IthaGenes

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Showing all Point-Mutations (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
3523	rs7138216	N/A	NC_000012.12:g.4225142G>C	RPL18P9-CCND2-AS1	Modifier	Abnormal red blood cell count
2680	rs270387	N/A	NC_000006.12:g.7772759A>G	BMP6	Modifier	Bacteremia		0
2681	rs267188	N/A	NC_000006.12:g.7840548T>A	BMP6	Modifier	Bacteremia		0
2682	rs408505	N/A	NC_000006.12:g.7866194T>C	BMP6	Modifier	Stroke, Bacteremia		0
2683	rs449853	N/A	NC_000006.12:g.7872119C>T	BMP6	Modifier	Osteonecrosis/Avascular necrosis, Stroke, Bacteremia		0
2915	-840 G>A (rs7438135)	N/A	NC_000004.12:g.69095621G>A	UGT2B7	Modifier	Morphine glucuronidation		0
3108	rs7118086	N/A	NC_000011.10:g.5316981T>C	OR51B2	Modifier	Hb F levels		0
3109	rs6578603	N/A	NC_000011.10:g.5321174C>T	OR51B2	Modifier	Hb F levels		0
3110	rs11036815	N/A	NC_000011.10:g.5323451G>A	OR51B2	Modifier	Hb F levels		0
3111	rs6578605	N/A	NC_000011.10:g.5328374A>G	OR51B2	Modifier	Hb F levels		0
3190	rs12793110	N/A	NC_000011.10:g.5210335C>T	OR51V1-HBB	Modifier	Anaemia		0
3346	rs7198458	N/A	NC_000016.10:g.66924983T>G	RRAD	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count		0
3350	rs13291830	N/A	NC_000009.12:g.137383374C>T	EXD3	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count		0
3353	rs28376707	N/A	NC_000008.11:g.76851837C>T	ZFHX4	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count		0
3354	rs35495590	N/A	NC_000007.14:g.23689312T>C	FAM221A	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count		0
3356	rs12366219	N/A	NC_000011.10:g.124023412A>G	OR10G9	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count		0
3357	rs17160348	N/A	NC_000019.10:g.8261982C>A \| NC_000019.10:g.8261982C>G \| NC_000019.10:g.8261982C>T	CERS4	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count		0
3465	rs2445284	N/A	NC_000011.10:g.5008473C>T	OR51L1-OR51P1P	Modifier	Haemolytic anaemia		0
3470	rs6778854	N/A	NC_000003.12:g.546765A>G	CHL1-LINC01266	Modifier	Acute chest syndrome		0
3481	rs540006	N/A	NG_029975.1:g.2726A>G	TGFA-ADD2	Modifier	Pain		0
3492	rs17084406	N/A	NC_000004.12:g.54496017A>G	PDGFRA-KIT	Modifier	Abnormal red blood cell count		0
3524	rs16887645	N/A	NC_000008.11:g.115685828C>A	TRPS1-LINC00536	Modifier	Abnormal red blood cell count		0
3191	rs11036338	N/A	NG_000007.3:g.76148C>G	OR51V1-HBB	Modifier	Anaemia		76148
3396	IVS I-113 C>A	Hb Beach Haven	HBA2:c.96-5C>A	α3.7 hybrid	Causative	Haemolytic anaemia	NG_000006.1
3631	-α3.7;CD 104 TGC>TAC	Hb Sallanches	N/A	α3.7 hybrid	Causative	α-thalassaemia	NG_000006.1
3192	rs141494605	N/A	NG_000006.1:g.27457T>C	HBM	Modifier	Anaemia	NG_000006.1	27457
2988	-54 G>A	N/A	HBA2:c.-91G>A	α2	Causative	α-thalassaemia	NG_000006.1	33685
2971	-44 C>A	N/A	HBA2:c.-81C>A	α2	Neutral	N/A	NG_000006.1	33695
2967	-22 C>T	N/A	HBA2:c.-59C>T	α2	Causative	α-thalassaemia	NG_000006.1	33717
3785	-6 G>C	N/A	HBA2:c.-43G>C	α2	Neutral	N/A	NG_000006.1	33733
3725	-4 G>C	N/A	HBA2:c.-41C>G	α2	Causative	α-thalassaemia	NG_000006.1	33735
3726	Cap +11 T>A	N/A	HBA2:c.-27T>A	α2	Causative	α-thalassaemia	NG_000006.1	33749
2481	CAP +14 C>G	N/A	HBA2:c.-24C>G	α2	Neutral	N/A	NG_000006.1	33752
3727	Cap +23 C>G	N/A	HBA2:c.-15C>G	α2	Causative	α-thalassaemia	NG_000006.1	33761
3728	Cap +30 A>C	N/A	HBA2:c.-8A>C	α2	Causative	α-thalassaemia	NG_000006.1	33768
3050	Init CD ATG>TTG [Met>Leu]	N/A	HBA2:c.1A>T	α2	Causative	α-thalassaemia	NG_000006.1	33776
3604	Init CD ATG>GTG [Met>Pro]	N/A	HBA2:c.1A>G	α2	Causative	α-thalassaemia	NG_000006.1	33776
2460	Init CD ATG>AGG [Met>Arg]	N/A	HBA2:c.2T>G	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33777
3754	Init CD ATG>AAG [Met>Lys]	N/A	HBA2:c.2T>A	α2	Causative	α-thalassaemia	NG_000006.1	33777
342	Init CD ATG>ACG [Met>Thr]	N/A	HBA2:c.2T>C	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33777
3027	Init CD ATG>ATT [Met>Ile]	Hb Valdecilla	HBA2:c.3G>T	α2	Causative	α-chain variant	NG_000006.1	33778
3564	Init CD ATG>ATC [Met>Ile]	N/A	HBA2:c.3G>C	α2	Causative	α-thalassaemia	NG_000006.1	33778
2306	CD 1 GTG>CTG (Val>Leu)	Hb St. Josef	HBA2:c.4G>C	α2	Causative	α-chain variant	NG_000006.1	33779
431	CD 1 GTG>ATG [Val>Met]	Hb A2-Fontanabuona	HBA2:c.4G>A	α2	Causative	α-chain variant	NG_000006.1	33779
432	CD 1 GTG>GGG [Val>Gly]	Hb Antananarivo	HBA1:c.5T>G \| HBA2:c.5T>G	α1, α1 or α2	Causative	α-chain variant	NG_000006.1	33780, 37584
433	CD 1 GTG>GAG [Val>Glu]	Hb Thionville	HBA1:c.5T>A \| HBA2:c.5T>A	α1 or α2	Causative	α-chain variant	NG_000006.1	33780, 37584
434	CD 1 GTG>GCG [Val>Ala]	Hb Lyon-Bron	HBA2:c.5T>C	α2	Causative	α-chain variant	NG_000006.1	33780
2361	CD 2 CTG>CCG [Leu>Pro]	Hb Kaiser West End	HBA2:c.8T>C	α2	Causative	α-chain variant	NG_000006.1	33783
436	CD 3 TCT>CCT [Ser>Pro]	Hb Central Middlesex	HBA1:c.10T>C \| HBA2:c.10T>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33785, 37589
2371	CD 3 TCT>TGT [Ser>Cys]	Hb Teterboro	HBA2:c.11C>G	α2	Causative	α-chain variant	NG_000006.1	33786
2489	CD 3 TCT>TAT [Ser>Tyr]	Hb Tallahassee	HBA2:c.11C>A	α2	Causative	α-chain variant	NG_000006.1	33786
438	CD 4 CCT>CGT [Pro>Arg]	Hb Gorée	HBA2:c.14C>G	α2	Causative	α-chain variant	NG_000006.1	33789
439	CD 4 CCT>CAT [Pro>His]	Hb Bellevue	HBA2:c.14C>A	α2	Causative	α-chain variant	NG_000006.1	33789
440	CD 5 GCC>CCC [Ala>Pro]	Hb Karachi	HBA1:c.16G>C \| HBA2:c.16G>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33791, 37595
3983	CD 5 GCC>ACC [Ala>Thr]	Hb Hengqin II	HBA2:c.16G>A	α2	Causative	α-chain variant	NG_000006.1	33791
3038	CD 6 GAC>TAC [Asp>Tyr]	Hb Woodville	HBA2:c.19G>T	α2	Causative	α-chain variant	NG_000006.1	33794
443	CD 6 GAC>AAC [Asp>Asn]	Hb Dunn	HBA1:c.19G>A \| HBA2:c.19G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	33794, 37598
445	CD 6 GAC>CAC [Asp>His]	Hb Galliera II	HBA2:c.19G>C	α2	Causative	α-chain variant	NG_000006.1	33794
446	CD 6 -GAC [-Asp]	Hb Boyle Heights	HBA1:c.19_21delGAC \| HBA2:c.19_21delGAC	α1 or α2	Causative	α-chain variant	NG_000006.1	33794, 37598
447	CD 6 GAC>GGC [Asp>Gly]	Hb Swan River	HBA2:c.20A>G	α2	Causative	α-chain variant	NG_000006.1	33795
448	CD 6 GAC>GTC [Asp>Val]	Hb Ferndown	HBA1:c.20A>T \| HBA2:c.20A>T	α1 or α2	Causative	α-chain variant	NG_000006.1	33795, 37599
449	CD 6 GAC>GCC [Asp>Ala]	Hb Sawara	HBA1:c.20A>C \| HBA2:c.20A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33795, 37599
2383	CD 7 AAG>CAG [Lys>Gln]	Hb J-Brainerd	HBA2:c.22A>C	α2	Causative	α-chain variant	NG_000006.1	33797
2469	CD 7 AAG>TAG	N/A	HBA2:c.22A>T	α2	Causative	α-thalassaemia	NG_000006.1	33797
3762	CD 7 AAG>GAG [Lys>Glu]	Hb Kurosaki	NM_000517.6(HBA2):c.22A>G	α2	Causative	α-chain variant	NG_000006.1	33797
2384	CD 7 AAG>ACG [Lys>Thr]	Hb Nayarit	HBA2:c.23A>C	α2	Causative	α-chain variant	NG_000006.1	33798
451	CD 7 AAG>AGG [Lys>Arg]	Hb Guanajuato	HBA2:c.23A>G	α2	Causative	α-chain variant	NG_000006.1	33798
452	CD 7 AAG>AAC [Lys>Asn]	Hb Tatras	HBA1:c.24G>C \| HBA2:c.24G>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33799, 37603
4011	CD 9 AAC>TAC [Asn>Tyr]	N/A	HBA2:c.28A>T	α2	Causative	α-thalassaemia	NG_000006.1	33803
454	CD 9 AAC>AGC [Asn>Ser]	Hb Zurich-Hottingen	HBA2:c.29A>G	α2	Causative	α-chain variant	NG_000006.1	33804
455	CD 9 AAC>ACC [Asn>Thr]	Hb Broomfield	HBA1:c.29A>C \| HBA2:c.29A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33804, 37608
457	CD 9 AAC>AAG [Asn>Lys]	Hb Park Ridge	HBA2:c.30C>G	α2	Causative	α-chain variant	NG_000006.1	33805
3402	CD 9 AAC>AAA [Asn>Lys]	Hb Zhaoqing	HBA2:c.30C>A	α2	Causative	α-chain variant	NG_000006.1	33805
3991	CD 10 GTC>GAC [Val>Asp]	Hb Chumphae	HBA2:c.32T>A	α2	Causative	α-thalassaemia	NG_000006.1	33807
3791	CD 11 AAG>GAG [Lys>Glu]	Hb Arbresle	HBA2:c.34A>G	α2	Causative	α-chain variant	NG_000006.1	33809
458	CD 11 AAG>CAG [Lys>Gln]	Hb J-Wenchang-Wuming	HBA2:c.34A>C	α2	Causative	α-chain variant	NG_000006.1	33809
459	CD 11 AAG>CAG [Lys>Glu]	Hb Anantharaj	HBA2:p.Lys12Glu \| HBA1:p.Lys12Glu	α1 or α2	Causative	α-chain variant	NG_000006.1	33809, 37613
3713	CD 11 AAG>ACG [Lys>Thr]	N/A	HBA2:c.35A>C	α2	Causative	α-chain variant	NG_000006.1	33810
460	CD 11 AAG>AAC or AAT [Lys>Asn]	Hb Albany-Suma	HBA1:c.36G>C \| HBA1:c.36G>T \| HBA2:c.36G>C \| HBA2:c.36G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	33811, 37615
2499	CD 12 GCC>GAC [Ala>Asp] (Hb J-Aljezur)	Hb J-Paris-I	HBA1:c.38C>A	α1	Causative	α-chain variant	NG_000006.1	33813
3599	CD 13 GCC>TCC [Ala>Ser]	Hb Binyang	HBA2:c.40G>T	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	33815
462	CD 13 GCC>CCC [Ala>Pro]	Hb Ravenscourt Park	HBA1:c.40G>C \| HBA2:c.40G>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33815, 37619
2977	CD 13 GCC>GAC [Ala>Asp]	Hb Little Waltham	HBA2:c.41C>A	α2	Causative	α-chain variant	NG_000006.1	33816
3984	CD 13 GCC>GTC [Ala>Val]	Hb Huidong	HBA2:c.41C>T	α2	Causative	α-chain variant	NG_000006.1	33816
2348	CD 14 TGG>TTG [Trp>Leu]	N/A	HBA2:c.44G>T	α2	Causative	α-chain variant	NG_000006.1	33819
3941	CD 14 TGG>TCG [Trp>Ser]	Hb Jax	HBA2:c.44G>C	α2	Causative	β-chain variant	NG_000006.1	33819
2518	CD 14 TGG>TGA	N/A	HBA2:c.45G>A	α2	Causative	α-thalassaemia	NG_000006.1	33820
464	CD 14 TGG>TGC [Trp>Cys]	Hb Bladensburg	HBA2:c.45G>C	α2	Causative	α-chain variant	NG_000006.1	33820
3761	CD 15 GGT>CGT [Gly>Arg]	Hb Ottawa	HBA2:c.46G>C	α2	Causative	α-chain variant	NG_000006.1	33821
3841	CD 15 GGT>AGT [Gly>Ser]	Hb Nanchang	HBA2:c.46G>A	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	33821
3916	CD 15 GGT>TGT [Gly>Cys]	Hb Orbassano	HBA2:c.46G>T	α2	Causative	α-chain variant	NG_000006.1	33821
3487	CD 15 GGT>GTT [Gly>Val]	Hb Liaoning	HBA2:c.47G>T	α2	Causative	α-chain variant	NG_000006.1	33822
3623	CD 16 AAG>CAG [Lys>Gln]	Hb Heilongjiang	HBA2:c.49A>C	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	33824
467	CD 16 AAG>GAG [Lys>Glu] (Hb I-Burlington, Hb I-Philadelphia, Hb I-Skamania, Hb I-Texas)	HbI	HBA2:c.49A>G	α2	Causative	α-chain variant	NG_000006.1	33824
469	CD 16 AAG>ACG [Lys>Thr]	Hb Boa Esperanca	HBA2:c.50A>C	α2	Causative	α-chain variant	NG_000006.1	33825
470	CD 16 AAG>AAT [Lys>Asn]	Hb Beijing	HBA2:c.51G>T	α2	Causative	α-chain variant	NG_000006.1	33826
3064	CD 17 GTC>TTC [Val>Phe]	Hb Dapu	HBA2:c.52G>T	α2	Causative	α-chain variant	NG_000006.1	33827
2978	CD 17 GTC>GAC [Val>Asp]	Hb Oxford	HBA2:c.53T>A	α2	Causative	α-chain variant	NG_000006.1	33828
3037	CD 18 GGC>CGC [Gly>Arg]	Hb Handsworth	HBA2:c.55G>C	α2	Causative	α-chain variant	NG_000006.1	33830
472	CD 18 GGC>GAC [Gly>Asp]	Hb Al-Ain Abu Dhabi	HBA1:c.56G>A \| HBA2:c.56G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	33831, 37635
473	CD 19 GCG>GAG [Ala>Glu]	Hb J-Tashikuergan	HBA2:c.59C>A	α2	Causative	α-chain variant	NG_000006.1	33834
474	CD 19 GCG>GAY [Ala>Asp]	Hb J-Kurosh	HBA2:c.59_60delinsAY^HBA1:c.59_60delinsAY	α1 or α2	Causative	α-chain variant	NG_000006.1	33834, 37638
3715	CD 19 GCG>GTG [Ala>Val]	N/A	HBA2:c.59C>T	α2	Causative	α-chain variant	NG_000006.1	33834
2465	CD 19 GCG>GC-	N/A	HBA2:c.60delG	α2	Causative	α-thalassaemia	NG_000006.1	33835
475	CD 20 CAC>TAC [His>Tyr]	Hb Necker Enfants-Malades	HBA1:c.61C>T \| HBA2:c.61C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	33836, 37640
476	CD 20 CAC>GAC [His>Asp]	Hb Nikaia	HBA2:c.61C>G	α2	Causative	α-chain variant	NG_000006.1	33836
478	CD 20 CAC>CGC [His>Arg]	Hb Hobart	HBA1:c.62A>G \| HBA2:c.62A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	33837, 37641
3989	CD 20 CAC>CTC [His>Leu]	Hb Hebei	HBA2: c.62A>T	α2	Causative	α-chain variant	NG_000006.1	33837
479	CD 20 CAC>CAA [His>Gln]	Hb Le Lamentin	HBA2:c.63C>A	α2	Causative	α-chain variant	NG_000006.1	33838
351	CD 21 GCT>TCT [Ala>Ser]	Hb Zoetermeer	HBA2:c.64G>T	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33839
481	CD 21 GCT>CCT [Ala>Pro]	Hb Fontainebleau	HBA2:c.64G>C	α2	Causative	α-chain variant	NG_000006.1	33839
2351	CD 21 GCT>GTT [Ala>Val]	Hb Venetia	HBA2:c.65C>T	α2	Causative	α-chain variant	NG_000006.1	33840
483	CD 22 GGC>GAC [Gly>Asp]	Hb J-Medellin	HBA1:c.68G>A \| HBA2:c.68G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	33843, 37647
352	CD 22 GGC>GGT new donor consensus	N/A	HBA2:c.69C>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33844
354	CD 23 GAG>TAG [Glu>STOP]	N/A	HBA2:c.70G>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33845
484	CD 23 GAG>CAG [Glu>Gln]	Hb Memphis	HBA2:c.70G>C	α2	Causative	α-chain variant	NG_000006.1	33845
485	CD 23 GAG>AAG [Glu>Lys] (Hb E-Keelung)	Hb Chad	HBA2:c.70G>A	α2	Causative	α-chain variant	NG_000006.1	33845
3915	-α3.7;CD 23 GAG>AAG	Hb Chad	NG_000006.1:g.34247_38050del;33845G>A	α3.7 hybrid	Causative	α-thalassaemia, α-chain variant	NG_000006.1	33845
2368	CD 23 GAG>GCG [Glu>Ala]	Hb Dayton	HBA2:c.71A>C	α2	Causative	α-chain variant	NG_000006.1	33846
486	CD 23 GAG>GGG [Glu>Gly]	Hb Reims	HBA1:c.71A>G \| HBA2:c.71A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	33846, 37650
487	CD 23 GAG>GTG [Glu>Val]	Hb G-Audhali	HBA1:c.71A>T \| HBA2:c.71A>T	α1 or α2	Causative	α-chain variant	NG_000006.1	33846, 37650
488	CD 23 GAG>GAT [Glu>Asp]	Hb Lisbon	HBA1:c.72G>T \| HBA2:c.72G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	33847, 37651
489	CD 24 TAT>CAT [Tyr>His]	Hb Luxembourg	HBA1:c.73T>C \| HBA2:c.73T>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33848, 37652
490	CD 24 TAT>GAT [Tyr>Asp]	Hb Creve Coeur	HBA2:c.73T>G	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	33848
2208	CD 24 TAT>TAG	N/A	HBA2:c.75T>G	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33850
2488	CD 24 TAT>TAA	N/A	HBA2:c.75T>A	α2	Causative	α-thalassaemia	NG_000006.1	33850
3985	CD 25 GGT>AGT [Gly>Ser]	Hb Jinwan	HBA2:c.76G>A	α2	Causative	α-chain variant	NG_000006.1	33851
2538	CD 25 GGT>GAT [Gly>Asp]	Hb Cibeles	HBA2:c.77G>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33852
3657	CD 26 GCG>ACG [Ala>Thr];CD 130 GCT>CCT [Ala>Pro]	Hb Southern Italy	HBA2:c.[79G>A;391G>C]	α2	Causative	α-thalassaemia	NG_000006.1	33854, 34425
355	CD 26 GCG>ACG [Ala>Thr]	Hb Caserta	HBA2:c.79G>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33854
493	CD 26 GCG>GTG [Ala>Val]	Hb Campinas	HBA2:c.80C>T	α2	Causative	α-chain variant	NG_000006.1	33855
494	CD GCG>GAG [Ala>Glu]	Hb Shenyang	HBA2:c.80C>A	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	33855
495	CD 27 GAG>AAG [Glu>Lys]	Hb Shuangfeng	HBA2:c.82G>A	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	33857
496	CD 27 GAG>GGG [Glu>Gly]	Hb Fort Worth	HBA2:c.83A>G	α2	Causative	α-chain variant	NG_000006.1	33858
497	CD 27 GAG>GTG [Glu>Val]	Hb Spanish Town	HBA2:c.83A>T	α2	Causative	α-chain variant	NG_000006.1	33858
498	CD 27 GAG>GCG [Glu>Ala]	Hb Hackney	HBA1:c.83A>C \| HBA2:c.83A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33858, 37662
499	CD 27 GAG>GAC [Glu>Asp]	Hb Hekinan	HBA2:c.84G>C	α2	Causative	α-chain variant	NG_000006.1	33859
356	CD 29 CTG>CCG [Leu>Pro]	Hb Agrinio	HBA2:c.89T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33864
503	CD 30 GAG>AAG [Glu>Lys]	Hb O-Padova	HBA2:c.91G>A	α2	Causative	α-chain variant	NG_000006.1	33866
3766	CD 30 GAG>CAG [Glu>Gln]	Hb G-Honolulu	HBA2:c.91G>C	α2	Causative	α-chain variant	NG_000006.1	33866
2210	CD 31 AGG>CGG [Arg>Arg]	N/A	HBA2:c.94A>C	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33869
2487	CD 31 AGG>GGG [Arg>Gly]	Hb Maranon	HBA2:c.94A>G	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	33869
3217	CD 31 AGG>TGG [Arg>Trp]	Hb Debao	HBA2:c.94A>T	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	33869
366	CD 31 AGG>AAG [Arg>Lys]	N/A	HBA2:c.95G>A	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33870
2483	IVS I-1 G>T	N/A	HBA2:c.95+1G>T	α2	Causative	α-thalassaemia	NG_000006.1	33871
3745	IVS I-1 G>A	N/A	HBA2:c.95+1G>A	α2	Causative	α-thalassaemia	NG_000006.1	33871
360	IVS I-5 G>A	N/A	HBA2:c.95+5 G>A	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33875
4043	IVS I-57 C>T	N/A	HBA2:c.95+7C>T	α2	Causative	α-thalassaemia	NG_000006.1	33877
3033	IVS I-27 C>T	N/A	HBA2:c.95+27C>T	α2	Neutral	N/A	NG_000006.1	33897
3769	IVS I-36 C>T	N/A	HBA2:c.95+36C>T	α2	Neutral	N/A	NG_000006.1	33906
3770	IVS I-39 C>T	N/A	HBA2:c.95+39C>T	α2	Neutral	N/A	NG_000006.1	33909
362	IVS I-55 G>A	N/A	HBA2:c.95+55 G>A	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33925
3976	IVS I-68 G>A	N/A	HBA2:c.96-50G>A	α2	Causative	α-thalassaemia	NG_000006.1	33938
3730	IVS I-73 G>A	N/A	HBA2:c.96-45G>A	α2	Causative	α-thalassaemia	NG_000006.1	33943
3877	IVS I-114 G>T	N/A	HBA2:c.96-4G>T	α2	Causative	α-thalassaemia	NG_000006.1	33984
363	IVS I-116 GCAGGA>GCGGGA acceptor	N/A	HBA2:c.96-2A>G	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33986
2957	IVS I-117 G>A	N/A	HBA2:c.96-1G>A	α2	Causative	α-thalassaemia	NG_000006.1	33987
506	CD 31 AGG>AGC [Arg>Ser]	Hb Prato	HBA2:c.96G>C	α2	Causative	α-chain variant	NG_000006.1	33988
2209	CD 32 ATG>AGG [Met>Arg] (Hb Gran Vía)	Hb Rotterdam	HBA2:c.98T>G	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33990
367	CD 32 G>A	Hb Amsterdam	HBA2:c.99G>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33991
3363	CD 33 TTC>CTC [Phe>Leu]	Hb Worthing	HBA2:c.100T>C	α2	Causative	α-chain variant	NG_000006.1	33992
368	CD 33 T>C	Hb Chartres	HBA2:c.101T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33993
3362	CD 34 CTG>CCG [Leu>Pro]	Hb Bass Hill	HBA2:c.104T>C	α2	Causative	α-chain variant	NG_000006.1	33996
369	CD 35 TCC>CCC [Ser>Pro]	Hb Evora	HBA2:c.106T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33998
511	CD 35 TCC>TAC [Ser>Tyr]	Hb Shinagawa	HBA2:c.107C>A	α2	Causative	α-chain variant	NG_000006.1	33999
2999	CD 35 TCC>TTC [Ser>Phe]	Hb Colorado	HBA2:c.107C>T	α2	Causative	α-chain variant	NG_000006.1	33999
512	CD 36 TTC>CTC [Phe>Leu]	Hb Geisinger	HBA2:c.109T>C	α2	Causative	α-chain variant	NG_000006.1	34001
2373	CD 37 CCC>TCC [Pro>Ser]	Hb Boskoop	HBA2:c.112C>T	α2	Causative	α-chain variant	NG_000006.1	34004
514	CD 37 CCC>CTC [Pro>Leu]	Hb Manawatu	HBA2:c.113C>T	α2	Causative	α-chain variant	NG_000006.1	34005
515	CD 37 CCC>CGC [Pro>Arg]	Hb Boumerdes	HBA2:c.113C>G	α2	Causative	α-chain variant	NG_000006.1	34005
2319	CD 38 ACC>GCC [Thr>Ala]	Hb Beaconsfield	HBA1:c.115A>G \| HBA2:c.115A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34007, 37811
3488	CD 38 ACC>AAC [Thr>Asn]	Hb Pescara	HBA2:c.116C>A	α2	Causative	α-chain variant	NG_000006.1	34008
372	CD 39-41 (-9 bp, + 8 bp)	N/A	NG_000006.1:g.34010_34018delinsTACTTCCC	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34010
519	CD 40 AAG>GAG [Lys>Glu]	Hb Kariya	HBA1:c.121A>G \| HBA2:c.121A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34013, 37817
520	CD 40 AAG>CAG [Lys>Gln]	Hb Linwood	HBA2:c.121A>C	α2	Causative	α-chain variant	NG_000006.1	34013
521	CD 40 AAG>ATG [Lys>Met]	Hb Kanagawa	HBA2:c.122A>T	α2	Causative	α-chain variant	NG_000006.1	34014
524	CD 40 AAG>AAC [Lys>Asn]	Hb Villiers le Bel	HBA2:c.123G>C	α2	Causative	α-chain variant	NG_000006.1	34015
525	CD 41 ACC>TCC or AGC [Thr>Ser]	Hb Miyano	HBA1:c.124A>T \| HBA1:c.125C>G \| HBA2:c.124A>T \| HBA2:c.125C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34016, 37820
3986	CD 41 ACC>AAC [Thr>Asn]	Hb Zhuhai	HBA2:c.125C>A	α2	Causative	α-chain variant	NG_000006.1	34017
3489	CD 42 TAC>GAC [Tyr>Asp]	Hb Huaxi	HBA2:c.127T>G	α2	Causative	α-chain variant	NG_000006.1	34019
373	CD 42 TAC>CAC [Tyr>His]	Hb Barika	HBA2:c.127T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34019
3801	CD 42 TAC>TGC [Tyr>Cys]	Hb Hauteluce	HBA2:c.128A>G	α2	Causative	α-chain variant	NG_000006.1	34020
527	CD 43 TTC>GTC [Phe>Val]	Hb Torino	HBA1:c.130T>G \| HBA2:c.130T>G	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34022, 37826
528	CD 43 TTC>ATC [Phe>Ile]	Hb Sens	HBA2:c.130T>A	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34022
529	CD 43 TTC>TTG [Phe>Leu]	Hb Hirosaki	HBA2:c.132C>G	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34024
3382	CD 44 CCG>TCG [Pro>Ser]	Hb Xuchang	HBA2:c.133C>T	α2	Causative	α-chain variant	NG_000006.1	34025
3763	CD 44 CCG>GCG [Pro>Ala]	Hb Milne	HBA2:c.133C>G	α2	Causative	α-chain variant	NG_000006.1	34025
532	CD 44 CCG>CGG [Pro>Arg]	Hb Kawachi	HBA1:c.134C>G \| HBA2:c.134C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34026, 37830
533	CD 44 CCG>CTG [Pro>Leu]	Hb Milledgeville	HBA2:c.134C>T	α2	Causative	α-chain variant	NG_000006.1	34026
534	CD 45 CAC>TAC [His>Tyr]	Hb Matsudo	HBA1:c.136C>T \| HBA2:c.136C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34028, 37832
535	CD 45 CAC>GAC [His>Asp]	Hb Poitiers	HBA1:c.136C>G \| HBA2:c.136C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34028, 37832
537	CD 45 CAC>CCC [His>Pro]	Hb Oita	HBA2:c.137A>C	α2	Causative	α-chain variant	NG_000006.1	34029
538	CD 45 CAC>CAG [His>Gln]	Hb Bari	HBA2:c.138C>G	α2	Causative	α-chain variant	NG_000006.1	34030
2541	CD 45 CAC>CAG [His>Gln]; CD 57 GGC>CGC [Gly>Arg]	Hb Blythe Boulevard	HBA2:c.[138C>G;172G>C]	α2	Causative	α-chain variant	NG_000006.1	34030, 34064
2953	CD 46 TTC>ATC [Phe>Ile]	Hb Brigante	HBA2:c.139T>A	α2	Causative	α-chain variant	NG_000006.1	34031
539	CD 46 TTC>TTG or TTA or CTC [Phe>Leu]	Hb Rockaway	HBA1:c.139T>C \| HBA1:c.141C>A \| HBA1:c.141C>G \| HBA2:c.139T>C \| HBA2:c.141C>A \| HBA2:c.141C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34031, 37835
540	CD 46 TTC>GTC [Phe>Val]	Hb Hillingdon	HBA1:c.139T>G \| HBA2:c.139T>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34031, 37835
2376	CD 46 TTC>TCC [Phe>Ser]	Hb Lake Tapawingo	HBA2:c.140T>C	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34032
541	CD 47 GAC>CAC [Asp>His] (Hb L-Ferrara, Hb Michigan-I, Hb Michigan-II, Hb Sealy, Hb Sinai)	Hb Hasharon	HBA2:c.142G>C	α2	Causative	α-chain variant	NG_000006.1	34034
543	CD 47 GAC>TAC [Asp>Tyr]	Hb Kurdistan	HBA2:c.142G>T	α2	Causative	α-chain variant	NG_000006.1	34034
4107	CD 47 GAC>AAC [Asp>Asn]	Hb Arya	HBA2:c.142G>A	α2	Causative	α-chain variant	NG_000006.1	34034
544	CD 47 GAC>GGC [Asp>Gly] (Hb Kokura , Hb L-Gaslini , Hb Mugino , Hb Tagawa-II , Hb Umi , Hb Yukuhashi-II)	Hb Beilinson	HBA1:c.143A>G \| HBA2:c.143A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34035, 37839
545	CD 47 GAC>GCC [Asp>Ala]	Hb Cordele	HBA1:c.143A>C \| HBA2:c.143A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34035, 37839
546	CD 48 CTG>CGG [Leu>Arg]	Hb Montgomery	HBA2:c.146T>G	α2	Causative	α-chain variant	NG_000006.1	34038
3694	CD 48 CTG>CAG [Leu>Gln]	Hb Ijselland	HBA2:c.146T>A	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34038
548	CD 49 AGC>AGA or AGG [Ser>Arg]	Hb Savaria	HBA2:c.150C>A \|HBA2:c.150C>G	α2	Causative	α-chain variant	NG_000006.1	34042
549	CD 50 CAC>GAC [His>Asp]	Hb J-Sardegna	HBA2:c.151C>G	α2	Causative	α-chain variant	NG_000006.1	34043
2314	CD 50 CAC>TAC [His>Tyr]	Hb South Yorkshire	HBA1:c.151C>T \| HBA2:c.151C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34043, 37847
3923	CD 50 CAC>CCC [His>Pro]	Hb Porter Brook	HBA2:c.152A>C	α2	Causative	α-chain variant	NG_000006.1	34044
551	CD 50 CAC>CGC [His>Arg]	Hb Aichi	HBA1:c.152A>G \| HBA2:c.152A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34044, 37848
552	CD 50 CAC>CAG [His>Gln]	Hb Frankfurt	HBA2:c.153C>G	α2	Causative	α-chain variant	NG_000006.1	34045
2511	-α3.7;CD 50 CAC>CAG [His>Gln] (-α3.7kb Frankfurt)	Hb Frankfurt	NG_000006.1:g.34247_38050del;34045C>G	α3.7 hybrid	Causative	α-chain variant	NG_000006.1	34045
2458	CD 51 GGC>AGC [Gly>Ser]	Hb Riccarton II	HBA2:c.154G>A	α2	Causative	α-chain variant	NG_000006.1	34046
3397	CD 51 GGC>TGC [Gly>Cys]	Hb Hunan	HBA2:c.154G>T	α2	Causative	α-chain variant	NG_000006.1	34046
554	CD 51 GGC>CGC [Gly>Arg]	Hb Russ	HBA2:c.154G>C	α2	Causative	α-chain variant	NG_000006.1	34046
555	CD 51 GGC>GAC [Gly>Asp]	Hb J-Abidjan	HBA1:c.155G>A \| HBA2:c.155G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34047, 37851
2423	CD 52 TCT>GCT [Ser>Ala]	Hb Cheshire	HBA1:c.157T>G \| HBA2:c.157T>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34049, 37853
557	CD 52 TCT>TTT [Ser>Phe]	Hb Essex	HBA2:c.158C>T	α2	Causative	α-chain variant	NG_000006.1	34050
558	CD 53 GCC>GAC [Ala>Asp]	Hb J-Rovigo	HBA2:c.161C>A	α2	Causative	α-chain variant	NG_000006.1	34053
376	CD 54 (CAG>TAG)	N/A	HBA2:c.163C>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34055
2472	CD 54 CAG>CCG [Gln>Pro]	Hb Dhaka	HBA1:c.164A>C \| HBA2:c.164A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34056, 37860
2397	CD 54 CAG>CAC or CAT [Gln>His]	Hb Princes Risborough	HBA1:p.[Gln55His] \| HBA2:p.[Gln55His]	α1 or α2	Causative	α-chain variant	NG_000006.1	34057, 37861
563	CD 55 GTT>GCT [Val>Ala]	Hb Gerland	HBA2:c.167T>C	α2	Causative	α-chain variant	NG_000006.1	34059
564	CD 56 AAG>GAG [Lys>Glu]	Hb Shaare Zedek	HBA2:c.169A>G	α2	Causative	α-chain variant	NG_000006.1	34061
565	CD 56 AAG>AGG [Lys>Arg]	Hb Port Huron	HBA1:c.170A>G \| HBA2:c.170A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34062, 37866
569	CD 57 GGC>GAC [Gly>Asp] (Hb Kagoshima, Hb Nishik-I, Hb Nishik-II, Hb Nishik-III)	Hb J-Norfolk	HBA2:c.173G>A	α2	Causative	α-chain variant	NG_000006.1	34065
570	CD 58 CAC>TAC [His>Tyr] (Hb M-Gothenburg, Hb M-Kiskunhalas, Hb M-Norin, Hb M-Osaka)	Hb M-Boston	HBA2:c.175C>T	α2	Causative	α-chain variant	NG_000006.1	34067
4072	CD 58 CAC>AAC [His>Asn]	Hb DG-Nancheng	HBA2:c.175C>A	α2	Causative	α-chain variant	NG_000006.1	34067
2474	CD 58 CAC>CAG [His>Gln]	Hb Flurlingen	HBA2:c.177C>G	α2	Causative	α-chain variant	NG_000006.1	34069
571	CD 58 CAC>CAA [His>Gln]	Hb Boghé	HBA2:c.177C>A	α2	Causative	α-chain variant	NG_000006.1	34069
379	CD 59 GGC>CGC [Gly>Arg]	Hb Zurich-Albisrieden	HBA2:c.178G>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34070
2409	CD 59 GGC>AGC [Gly>Ser]	Hb Parma	HBA2:c.178G>A	α2	Causative	α-chain variant	NG_000006.1	34070
377	CD 59 GGC>GAC [Gly>Asp]	Hb Adana	HBA2:c.179G>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34071
575	CD 59 GGC>GTC [Gly>Val]	Hb Tottori	HBA1:c.179G>T \| HBA2:c.179G>T	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34071, 37875
577	CD 60 AAG>GAG [Lys>Glu]	Hb Dagestan	HBA2:c.181A>G	α2	Causative	α-chain variant	NG_000006.1	34073
3987	CD 60 AAG>AGG [Lys>Arg]	Hb Liuzhou-Liyong	HBA2:c.182A>G	α2	Causative	α-chain variant	NG_000006.1	34074
3286	CD 61 AAG>TAG [Lys>STOP]	N/A	HBA2:c.184A>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34076
580	CD 61 AAG>GAG [Lys>Glu]	Hb Miyagi	HBA1:c.184A>G \| HBA2:c.184A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34076, 37880
581	CD 61 AAG>ACG [Lys>Thr]	Hb J-Anatolia	HBA2:c.185A>C	α2	Causative	α-chain variant	NG_000006.1	34077
583	CD 62 GTG>ATG [Val>Met]	Hb Evans	HBA2:c.187G>A	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34079
384	CD 66 CTG>CCG [Leu>Pro]	Hb Dartmouth	HBA2:c.190T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34082
2362	CD 63 GCC>GTC [Ala>Val] (Hb Aberystwyth)	Hb Nakhon Ratchsima	HBA2:c.191C>T	α2	Causative	α-chain variant	NG_000006.1	34083
586	CD 64 GAC>TAC [Asp>Tyr]	Hb Persepolis	HBA1:c.193G>T \| HBA2:c.193G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34085, 37889
588	CD 64 GAC>AAC [Asp>Asn] (Hb Aida)	Hb G-Waimanalo	HBA2:c.193G>A	α2	Causative	α-chain variant	NG_000006.1	34085
589	CD 64 GAC>GGC [Asp>Gly]	Hb Guangzhou-Hangzhou	HBA1:c.194A>G \| HBA2:c.194A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34086, 37890
590	CD 65 GCG>ACG [Ala>Thr]	Hb Part-Dieu	HBA2:c.196G>A	α2	Causative	α-chain variant	NG_000006.1	34088
591	CD 65 GCG>GTG [Ala>Val]	Hb Bois Guillaume	HBA1:c.197C>T \| HBA2:c.197C>T	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34089, 37893
3381	CD 67 ACC>ATC [Thr>Ile]	Hb Sichuan	HBA2:c.203C>T	α2	Causative	α-chain variant	NG_000006.1	34095
2318	CD 68 AAC>TAC [Asn>Tyr]	Hb Chelmsford	HBA1:c.205A>T \| HBA2:c.205A>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34097, 37901
593	CD 68 AAC>GAC [Asn>Asp]	Hb Ube-2	HBA2:c.205A>G	α2	Causative	α-chain variant	NG_000006.1	34097
595	CD 68 AAC>CAC [Asn>His]	Hb St. Truiden	HBA2:c.205A>C	α2	Causative	α-chain variant	NG_000006.1	34097
596	CD 68 AAC>AAA [Asn>Lys] (Hb D-Baltimore, Hb D-St. Louis, Hb D-Washington, Hb G-Azakouli, Hb G-Bristol, Hb G-Knoxville, Hb Stanleyville-I)	Hb G-Philadelphia	HBA2:c.207C>A	α2	Causative	α-chain variant	NG_000006.1	34099
598	CD 69 GCC>ACC [Ala>Thr]	Hb Decines-Charpieu	HBA2:c.208G>A	α2	Causative	α-chain variant	NG_000006.1	34100
2335	CD 70 GTG>GGG [Val>Gly]	Hb Edinburgh	HBA2:c.212T>G	α2	Causative	α-chain variant	NG_000006.1	34104
2312	CD 71 GCG>ACG [Ala>Thr]	Hb Hatfield	HBA1:c.214G>A \| HBA2:c.214G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34106, 37910
600	CD 71 GCG>GAG [Ala>Glu]	Hb J-Habana	HBA1:c.215C>A \| HBA2:c.215C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34107, 37911
602	CD 72 CAC>GAC [His>Asp]	Hb Norton	HBA2:c.217C>G	α2	Causative	α-chain variant	NG_000006.1	34109
603	CD 72 CAC>TAC [His>Tyr] (Hb Tanashi)	Hb Fuchu-I	HBA1:c.217C>T \| HBA2:c.217C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34109, 37913
604	CD 72 CAC>CGC [His>Arg]	Hb Daneshgah-Tehran	HBA2:c.218A>G	α2	Causative	α-chain variant	NG_000006.1	34110
605	CD 72 CAC>CAA [His>Gln]	Hb Gouda	HBA2:c.219C>A	α2	Causative	α-chain variant	NG_000006.1	34111
606	CD 74 GAC>AAC [Asp>Asn]	Hb G-Pest	HBA2:c.223G>A	α2	Causative	α-chain variant	NG_000006.1	34115
2979	CD 74 GAC>TAC [ Asp>Tyr]	Hb Uttoxeter	HBA2:c.223G>T	α2	Causative	α-chain variant	NG_000006.1	34115
3749	CD 74 GAC>GGC [Asp>Gly] (Hb Chapel Hill)	Hb Liangqing	HBA2:c224A>G	α2	Causative	α-chain variant	NG_000006.1	34116
610	CD 74 GAC>GCC [Asp>Ala]	Hb Lille	HBA1:c.224A>C \| HBA2:c.224A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34116, 37920
612	CD 75 GAC>AAC [Asp>Asn]	Hb Matsue-Oki	HBA2:c.226G>A	α2	Causative	α-chain variant	NG_000006.1	34118
613	CD 75 GAC>CAC [Asp>His]	Hb Q-Iran	HBA2:c.226G>C	α2	Causative	α-chain variant	NG_000006.1	34118
614	CD 75 GAC>TAC [Asp>Tyr]	Hb Winnipeg	HBA2:c.226G>T	α2	Causative	α-chain variant	NG_000006.1	34118
615	CD 75 GAC>GTC [Asp>Val]	Hb Al-Hammadi Riyadh	HBA2:c.227A>T	α2	Causative	α-chain variant	NG_000006.1	34119
616	CD 75 GAC>GGC [Asp>Gly]	Hb Mizushi	HBA2:c.227A>G	α2	Causative	α-chain variant	NG_000006.1	34119
617	CD 76 ATG>AGG [Met>Arg]	Hb Walpole	HBA1:c.230T>G \| HBA2:c.230T>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34122, 37926
618	CD 76 ATG>ACG [Met>Thr]	Hb Aztec	HBA2:c.230T>C	α2	Causative	α-chain variant	NG_000006.1	34122
619	CD 76 ATG>AAG [Met>Lys]	Hb Noko	HBA1:c.230T>A \| HBA2:c.230T>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34122, 37926
620	CD 76 ATG>ATA [Met>Ile]	Hb Hellux	HBA2:c.231G>A	α2	Causative	α-chain variant	NG_000006.1	34123
2486	CD 77 CCC>TCC [Pro>Ser]	Hb Nile	HBA2:c.232C>T	α2	Causative	α-chain variant	NG_000006.1	34124
621	CD 77 CCC>CAC [Pro>His]	Hb Toulon	HBA2:c.233C>A	α2	Causative	α-chain variant	NG_000006.1	34125
622	CD 77 CCC>CTC [Pro>Leu]	Hb Asklipios	HBA2:c.233C>T	α2	Causative	α-chain variant	NG_000006.1	34125
623	CD 77 CCC>CGC [Pro>Arg]	Hb GuiZhou	HBA1:c.233C>G \| HBA2:c.233C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34125, 37929
624	CD 78 AAC>GAC [Asn>Asp]	Hb J-Singa	HBA1:c.235A>G \| HBA2:c.235A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34127, 37931
626	CD 78 AAC>AAG or AAA [Asn>Lys]	Hb Stanleyville-II	HBA2:c.[237C>A ;237C>G]	α2	Causative	α-chain variant	NG_000006.1	34129
627	CD 79 GCG>ACG [Ala>Thr]	Hb Mantes-La-Jolie	HBA1:c.238G>A \| HBA2:c.238G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34130, 37934
628	CD 79 GCG>GGG [Ala>Gly]	Hb J-Singapore	HBA2:c.239C>G	α2	Causative	α-chain variant	NG_000006.1	34131
629	CD 80 CTG>GTG [Leu>Val]	Hb Conakry	HBA2:c.241C>G	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34133
630	CD 80 CTG>CGG [Leu>Arg]	Hb Ann Arbor	HBA2:c.242T>G	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34134
3800	CD 80 CTG>CCG [Leu>Pro]	Hb Robbinsdale	HBA2:c.242T>C	α2	Causative	α-chain variant	NG_000006.1	34134
631	CD 81 TCC>CCC [Ser>Pro]	Hb Passy	HBA2:c.244T>C	α2	Causative	α-chain variant	NG_000006.1	34136
2980	CD 81 TCC>TAC [Ser>Tyr]	Hb Wolverhampton	HBA2:c.245C>A	α2	Causative	α-chain variant	NG_000006.1	34137
3884	CD 81 TCC>TTC [Ser>Phe]	Hb Zhaotong	HBA2:c.245C>T	α2	Causative	α-chain variant	NG_000006.1	34137
634	CD 82 GCC>GAC [Ala>Asp]	Hb Garden State	HBA1:c.248C>A \| HBA2:c.248C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34140, 37944
635	CD 83 CTG>CCG [Leu>Pro]	Hb Les Andelys	HBA2:c.251T>C	α2	Causative	α-chain variant	NG_000006.1	34143
636	CD 84 AGC>GGC [Ser>Gly]	Hb Wembley	HBA1:c.253A>G \| HBA2:c.253A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34145, 37949
638	CD 84 AGC>AAC [Ser>Asn]	Hb Meulan	HBA2:c.254G>A	α2	Causative	α-chain variant	NG_000006.1	34146
2970	CD 84 AGC>ACC [Ser>Thr]	Hb Oelsnitz	HBA2:c.254G>C	α2	Causative	α-chain variant	NG_000006.1	34146
2446	CD 85 GAC>CAC [Asp>His]	Hb Canuts II	HBA2:c.256G>C	α2	Causative	α-chain variant	NG_000006.1	34148
3952	CD 85 GAC>AAC [Asp>Asn]	Hb G-Norfolk	HBA2:c.256G>A	α2	Causative	α-chain variant	NG_000006.1	34148
640	CD 85 GAC>TAC [Asp>Tyr]	Hb Atago	HBA1:c.256G>T \| HBA2:c.256G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34148, 37952
642	CD 85 GAC>GTC [Asp>Val]	Hb Inkster	HBA2:c.257A>T	α2	Causative	α-chain variant	NG_000006.1	34149
2355	CD 85 GAC>GGC [Asp>Gly]	Hb Benton	HBA2:c.257A>G	α2	Causative	α-chain variant	NG_000006.1	34149
2398	CD 85 GAC>GAA or GAG [Asp>Glu]	Hb Aylesbury	HBA1:c.258C>A \| HBA1:c.258C>G \| HBA2:c.258C>A \| HBA2:c.258C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34150, 37954
2372	CD 86 CTG>GTG [Leu>Val]	Hb Ridgewood	HBA2:c.259C>G	α2	Causative	α-chain variant	NG_000006.1	34151
643	CD 86 CTG>CGG [Leu>Arg]	Hb Moabit	HBA1:c.260T>G \| HBA2:c.260T>G	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34152, 37956
645	CD 87 CAC>TAC [His>Tyr] (Hb M-Kankakee, Hb M-Oldenburg, Hb M-Sendai)	Hb M-Iwate	HBA2:c.262C>T	α2	Causative	α-chain variant	NG_000006.1	34154
646	CD 87 CAC>AAC [His>Asn]	Hb Auckland	HBA1:c.262C>A \| HBA2:c.262C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34154, 37958
648	CD 87 CAC>CGC [His>Arg]	Hb Iwata	HBA1:c.263A>G \| HBA2:c.263A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34155, 37959
2308	CD 87 CAC>CAG [His>Gln]	Hb Lansing	HBA2:c.264C>G	α2	Causative	α-chain variant	NG_000006.1	34156
2549	CD 87 CAC>CAA [His>Glu]	Hb Lansing (A)	HBA2:c.264C>A	α2	Causative	α-chain variant	NG_000006.1	34156
2367	CD 88 GCG>ACG [Ala>Thr]	Hb Voorhees	HBA2:c.265G>A	α2	Causative	α-chain variant	NG_000006.1	34157
650	CD 88 GCG>TCG [Ala>Ser]	Hb Loire	HBA1:c.265G>T \| HBA2:c.265G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34157, 37961
651	CD 88 GCG>GAG [Ala>Glu]	Hb Wroclaw	HBA1:c.266C>A \| HBA2:c.266C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34158, 37962
652	CD 88 GCG>GTG [Ala>Val]	Hb Columbia Missouri	HBA1:c.266C>T \| HBA2:c.266C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34158, 37962
653	CD 88 GCG>GGG [Ala>Gly]	Hb Valparaiso	HBA1:c.266C>G \| HBA2:c.266C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34158, 37962
654	CD 89 CAC>TAC [His>Tyr]	Hb Villeurbanne	HBA2:c.268C>T	α2	Causative	α-chain variant	NG_000006.1	34160
655	CD 89 CAC>CCC [His>Pro]	Hb Tokyo	HBA1:c.269A>C \| HBA2:c.269A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34161, 37965
656	CD 89 CAC>CGC [His>Arg]	Hb Tamano	HBA1:c.269A>G \| HBA2:c.269A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34161, 37965
657	CD 89 CAC>CTC [His>Leu]	Hb Luton	HBA2:c.269A>T	α2	Causative	α-chain variant	NG_000006.1	34161
2390	CD 89 CAC>CAG [His>Gln]	Hb Enfield	HBA2:c.270C>G	α2	Causative	α-chain variant	NG_000006.1	34162
2388	CD 90 AAG>CAG [Lys>Gln]	Hb Bergerac	HBA2:c.271A>C	α2	Causative	α-chain variant	NG_000006.1	34163
388	CD 90 AAG>TAG	N/A	HBA2:c.271A>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34163
659	CD 90 AAG>GAG [Lys>Glu]	Hb Sudbury	HBA1:c.271A>G \| HBA2:c.271A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34163, 37967
660	CD 90 AAG>ATG [Lys>Met] (Hb Munakata)	Hb Handa	HBA1:c.272A>T \| HBA2:c.272A>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34164, 37968
661	CD 90 AAG>AGG [Lys>Arg]	Hb Clinico-Madrid	HBA2:c.272A>G	α2	Causative	α-chain variant	NG_000006.1	34164
664	CD 90 AAG>AAT (Hb Tagawa-I)	Hb J-Broussais	HBA2:c.273G>T	α2	Causative	α-chain variant	NG_000006.1	34165
2311	CD 91 CTT>TTT [Leu>Phe]	Hb Treviso	HBA2: c.274C>T	α2	Causative	α-chain variant	NG_000006.1	34166
2470	CD 91 CTT>ATT [Leu>Ile]	Hb Zara	HBA2:c.274C>A	α2	Causative	α-chain variant	NG_000006.1	34166
2952	CD 91 CTT>CGT [Leu>Arg]	Hb La Mancha	HBA2:c.275T>G	α2	Causative	α-chain variant	NG_000006.1	34167
2956	CD 91 CTT>CAT [Leu>His]	Hb Kalavasos	HBA2:c.275T>A	α2	Causative	α-chain variant	NG_000006.1	34167
666	CD 91 CTT>CCT [Leu>Pro]	Hb Port Phillip	HBA2:c.275T>C	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34167
667	CD 92 CGG>TGG [Arg>Trp]	Hb Cemenelum	HBA1:c.277C>T \| HBA2:c.277C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34169, 37973
3587	CD 92 CGG>GGG [Arg>Gly]	Hb Leeuwarden	HBA2:c.277C>G	α2	Causative	α-chain variant	NG_000006.1	34169
669	CD 92 CGG>CTG [Arg>Leu]	Hb Chesapeake	HBA2:c.278G>T	α2	Causative	α-chain variant	NG_000006.1	34170
670	CD 92 CGG>CCG [Arg>Pro]	Hb Monou	HBA2:c.278G>C	α2	Causative	α-chain variant	NG_000006.1	34170
389	CD 93 GTG>GGG [Val>Gly]	Hb Bronte	HBA2:c.281T>G	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34173
673	CD 94 GAC>TAC [Asp>Tyr]	Hb Setif	HBA2:c.283G>T	α2	Causative	α-chain variant	NG_000006.1	34175
674	CD 94 GAC>AAC [Asp>Asn]	Hb Titusville	HBA2:c.283G>A	α2	Causative	α-chain variant	NG_000006.1	34175
675	CD 94 GAC>CAC [Asp>His]	Hb Sunshine Seth	HBA2:c.283G>C	α2	Causative	α-chain variant	NG_000006.1	34175
676	CD 94 GAC>GTC [Asp>Val]	Hb Kirksey	HBA2:c.284A>T	α2	Causative	α-chain variant	NG_000006.1	34176
679	CD 94 GAC>GAG [Asp>Glu]	Hb Roanne	HBA1:c.285C>G \| HBA2:c.285C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34177, 37981
3696	CD 94 GAC>GAT [Asp>Asp]	N/A	HBA2:c.285C>T	α2	Neutral	N/A	NG_000006.1	34177
680	CD 95 CCG>GCG [Pro>Ala]	Hb Denmark Hill	HBA2:c.286C>G	α2	Causative	α-chain variant	NG_000006.1	34178
682	CD 95 CCG>TCG [Pro>Ser]	Hb Rampa	NM_000517.4(HBA2):c.286C>T	α2	Causative	α-chain variant	NG_000006.1	34178
683	CD 95 CCG>CTG [Pro>Leu]	Hb G-Georgia	HBA2:c.287C>T	α2	Causative	α-chain variant	NG_000006.1	34179
2375	CD 96 GTC>ATC [Vla>Ile]	Hb El Salvador	HBA2:c.289G>A	α2	Causative	α-chain variant	NG_000006.1	34181
686	CD 96 GTC>GAC [Val>Asp]	Hb El Escorial	HBA2:c.290T>A	α2	Causative	α-chain variant	NG_000006.1	34182
687	CD AAC>CAC [Asn>His] (Hb Shinbashi)	Hb Fuchu-II	HBA2:c.292A>C	α2	Causative	α-chain variant	NG_000006.1	34184
2350	CD 97 AAC>GAC [Asn>Asp]	Hb Cheektowaga	HBA2:c.292A>G	α2	Causative	α-chain variant	NG_000006.1	34184
688	CD 97 AAC>AAA [Asn>Lys]	Hb Dallas	HBA2:c.294C>A	α2	Causative	α-chain variant	NG_000006.1	34186
3988	CD 98 TTC>GTC [Phe>Val]	Hb Xiangzhou	HBA2:c.295T>G	α2	Causative	α-chain variant	NG_000006.1	34187
689	CD 98 TTC>TAC [Phe>Tyr]	Hb Mill Hill	HBA1:c.296T>A \| HBA2:c.296T>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34188, 37992
2466	CD 99 AAG>CAG [Lys>Gln]	Hb Burkina Fassa	HBA2:c.298A>C	α2	Causative	α-chain variant	NG_000006.1	34190
3610	CD 99 AAG>TAG [Lys>STOP]	N/A	HBA2:c.298A>T	α2	Causative	α-thalassaemia	NG_000006.1	34190
2416	CD 99 AAG>ATG [Lys>Met]	N/A	HBA1:c.299A>T	α1	Causative	α-chain variant	NG_000006.1	34191
2424	CD 99 AAG>AGG [Lys>Arg]	Hb Papanui	HBA2:c.299A>G	α2	Causative	α-chain variant	NG_000006.1	34191
2370	CD 99 AAG>AAC [Lys>Asn]	Hb Fulton	HBA2:c.300G>C	α2	Causative	α-chain variant	NG_000006.1	34192
391	IVS II-2 GT>GA donor	N/A	HBA2:c.300+2T>A	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34194
3731	IVS II-34 G>A	N/A	HBA2:c.300+34G>A	α2	Causative	α-thalassaemia	NG_000006.1	34226
3063	IVS II-55 T>G	N/A	HBA2:c.300+55T>G	α2	Neutral	N/A	NG_000006.1	34247
3783	IVS II-64 A>G	N/A	HBA2:c.300+64A>G	α2	Neutral	N/A	NG_000006.1	34256
392	IVS II-142 G>A	N/A	HBA2:c.301-1G>A	α2	Causative	α-thalassaemia	NG_000006.1	34334
2220	CD 101 CTA>CCA [Leu>Pro]	Hb Bishopstown	HBA2:c.305T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34339
692	CD 102 AGC>CGC [Ser>Arg]	Hb Manitoba I	HBA2:c.307A>C	α2	Causative	α-chain variant	NG_000006.1	34341
2304	CD 102 AGC>AAC (Ser>Asn)	Hb Enschede	HBA2:c.308G>A	α2	Causative	α-chain variant	NG_000006.1	34342
694	CD 102 AGC>AGA [Ser>Arg]	Hb Manitoba III	HBA2:c.309C>A	α2	Causative	α-chain variant	NG_000006.1	34343
696	CD 103 CAC>TAC [His>Tyr]	Hb Lombard	HBA2:c.310C>T	α2	Causative	α-chain variant	NG_000006.1	34344
394	CD 103 CAC>CTC [His>Leu]	Hb Bronovo	HBA2:c.311A>T	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34345
698	CD 103 CAC>CGC [His>Arg]	Hb Contaldo	HBA1:c.311A>G \| HBA2:c.311A>G	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34345, 38156
2420	CD 104 TGC>CGC [Cys>Arg]	Hb Iberia	HBA2:c.313T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34347
3056	CD 104 TGC>AGC [Cys>Ser]	Hb Oegstgeest	HBA2:c.313T>A	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34347
396	CD 104 TGC>TAC [Cys>Tyr]	Hb Sallanches	HBA2:c.314G>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34348
3583	CD 106 CTG>CGG [Leu>Arg]	Hb Beckett	HBA2:c.320T>G	α2	Causative	α-chain variant	NG_000006.1	34354
3913	CD 107 GTG>CTG [Val>Leu]	Hb Liaobu	HBA2:c.322G>C	α2	Causative	α-chain variant	NG_000006.1	34356
3611	CD 108 ACC>GCC [Thr>Ala]	N/A	HBA2:c.325A>G	α2	Causative	α-thalassaemia	NG_000006.1	34359
4078	CD 108 ACC>CCC [Thr>Pro]	N/A	HBA1:c.325A>C	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34359
2991	CD 108 ACC>AAC [Thr>Asn]	Hb Rogliano	HBA1:c.326C>A	α1	Causative	α-chain variant	NG_000006.1	34360
397	CD 108 ACC>AAC [Thr>Asn]	Hb Bleuland	HBA2:c.326C>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34360
399	CD 109 CTG>CGG [Leu>Arg]	Hb Suan Dok	HBA2:c.329T>G	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34363
2571	CD 109 CTG>CCG [Leu>Pro]	Hb Milano	HBA1:c.329T>C	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34363
704	CD 110 GCC>ACC [Ala>Thr]	Hb Tonosho	HBA1:c.331G>A \| HBA2:c.331G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34365, 38176
401	CD 110 GCC>GAC [Ala>Asp]	Hb Petah Tikva	HBA1:c.332C>A \| HBA2:c.332C>A	α1 or α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34366
706	CD 111 GCC>ACC [Ala>Thr]	Hb Mosella	HBA1:c.334G>A \| HBA2:c.334G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34368, 38179
3982	CD 111 GCC>TCC [Ala>Ser]	Hb Liuzhou-Yufeng	HBA1:c.334G>T	α1	Causative	α-chain variant	NG_000006.1	34368
707	CD 111 GCC>GTC [Ala>Val]	Hb Anamosa	HBA2:c.335C>T	α2	Causative	α-chain variant	NG_000006.1	34369
2360	CD 112 CAC>TAC [His>Tyr]	Hb Kansas City	HBA2:c.337C>T	α2	Causative	α-chain variant	NG_000006.1	34371
2366	CD 112 CAC>AAC [His>Asn]	Hb Royal Oak	HBA2:c.337C>A	α2	Causative	α-chain variant	NG_000006.1	34371
3924	CD 112 CAC>CCC [His>Pro]	Hb Beligneux	HBA2:c.338A>C	α2	Causative	α-chain variant	NG_000006.1	34372
709	CD 112 CAC>CGC [His>Arg] (Hb Serbia)	Hb Strumica	HBA1:c.338A>G \| HBA2:c.338A>G	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34372, 38183
404	CD 113-116 (-12 bp) & CD 112 (C>G)	Hb Leida	HBA2:c.[339C>G;340_351delCTCCCCGCCGAG]	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34373
3482	CD 113 CTC>TTC [Leu>Phe]	Hb Pretoria	HBA2:c.340C>T	α2	Causative	α-chain variant	NG_000006.1	34374
711	CD 113 CTC>CGC [Leu>Arg]	Hb San Antonio	HBA2:c.341T>G	α2	Causative	α-chain variant	NG_000006.1	34375
712	CD 113 CTC>CAC [Leu>His]	Hb Twin Peaks	HBA1:c.341T>A \| HBA2:c.341T>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34375, 38186
713	CD 114 CCC>TCC [Pro>Ser]	Hb Melusine	NM_000517.6(HBA2):c.343C>T	α2	Causative	α-chain variant	NG_000006.1	34377
714	CD 114 CCC>ACC [Pro>Thr] (Hb Bamako)	Hb Jura	HBA2:c.343C>A	α2	Causative	α-chain variant	NG_000006.1	34377
716	CD 114 CCC>CGC [Pro>Arg]	Hb Chiapas	HBA1:c.344C>G \| HBA2:c.344C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34378, 38189
717	CD 115 GCC>GAC [Ala>Asp]	Hb J-Tongariki	HBA1:c.347C>A \| HBA2:c.347C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34381, 38192
405	CD 116 GAG>TAG	N/A	HBA2:c.349G>T	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34383
718	CD 116 GAG>CAG [Glu>Gln]	Hb Oleander	HBA1:c.349G>C \| HBA2:c.349G>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34383, 38194
3041	CD 116 GAG>AAG [Glu>Lys]	Hb O-Indonesia	HBA2:c.349G>A	α2	Causative	α-chain variant	NG_000006.1	34383
2337	CD 116 GAG>GTG [Glu>Val]	Hb Walsgrave	HBA2:c.350A>T	α2	Causative	α-chain variant	NG_000006.1	34384
722	CD 117 TTC>ATC [Phe>Ile]	Hb Ambroise Pare	HBA2:c.352T>A	α2	Causative	α-chain variant	NG_000006.1	34386
2023	CD 117 TTC>TCC [Phe>Ser]	Hb Foggia	HBA2:c.353T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34387
3970	CD 117 TTC>TTG [Phe>Leu]	Hb Jendouba	HBA2:c.354C>G	α2	Causative	α-chain variant	NG_000006.1	34388
2951	CD 118 ACC>ATC [Thr>Ile]	Hb Cervantes	HBA2:c.356C>T	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34390
3028	CD 119 CCT>TCT [Pro>Ser]	Hb Macarena	HBA2:c.358C>T	α2	Causative	α-chain variant	NG_000006.1	34392
3271	CD 119 CCT>GCT [Pro>Ala] (Hb Lakeview Terrace)	Hb Arcadia	HBA2:c.358C>G	α2	Causative	α-chain variant	NG_000006.1	34392
3716	CD 119 CCT>CAT [Pro>His]	N/A	HBA2:c.359C>A	α2	Causative	α-chain variant	NG_000006.1	34393
727	CD 120 GCG>GAG [Ala>Glu] (Hb J-Birmingham)	Hb J-Meerut	HBA2:c.362C>A	α2	Causative	α-chain variant	NG_000006.1	34396
3029	CD 121 (+3bp): (+GTG)	Hb El Retiro	HBA2:c.364_366dupGTG	α2	Causative	α-chain variant	NG_000006.1	34398
3042	CD 122 CAC>TAC [His>Tyr]	Hb Yanase	HBA2:c.367C>T	α2	Causative	α-chain variant	NG_000006.1	34401
2356	CD 122 CAC>CTC [His>Leu]	Hb Dubai	HBA2:c.368A>T	α2	Causative	α-chain variant	NG_000006.1	34402
730	CD 122 CAC>CAG [His>Gln]	Hb Westmead	HBA2:c.369C>G	α2	Causative	α-chain variant	NG_000006.1	34403
731	CD 123 GCC>ACC [Ala>Thr] (Hb Croxley Green)	Hb Santa Barnabas	HBA2:c.370G>A	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34404
2457	CD 123 GCC>GTC [Ala>Val]	Hb Pressath	HBA2:c.371C>T	α2	Causative	α-chain variant	NG_000006.1	34405
3748	CD 124 TCC>ACC [Ser>Thr]	Hb Huadu	HBA2:c.373T>A	α2	Causative	α-chain variant	NG_000006.1	34407
734	CD 124 TCC>CCC [Ser>Pro]	Hb Policoro	HBA2:c.373T>C	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34407
2444	CD 124 TCC>TTC [Ser>Phe]	Hb Batley	HBA1:c.374C>T \| HBA2:c.374C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34408, 38219
408	CD 125 CTG>CCG [Leu>Pro]	Hb Quong Sze	HBA2:c.377T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34411
409	CD 125 CTG>CGG [Leu>Arg]	Hb Plasencia	HBA2:c.377T>G	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34411
736	CD 125 CTG>CAG [Leu>Gln]	Hb West-Einde	HBA2:c.377T>A	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34411
3758	CD 126 GAC>AAC [Asp>Asn]	Hb Tarrant	HBA2:c.379G>A	α2	Causative	α-chain variant	NG_000006.1	34413
741	CD 126 GAC>GGC [Asp>Gly]	Hb West One	HBA2:c.380A>G	α2	Causative	α-chain variant	NG_000006.1	34414
742	CD 126 GAC>GGC [Asp>Val]	Hb Fukutomi	HBA1:c.380A>T \| HBA2:c.380A>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34414, 38225
2338	CD 127 AAG>GAG [Lys>Glu]	Hb Coombe Park	HBA2:c.382A>G	α2	Causative	α-chain variant	NG_000006.1	34416
2519	CD 127 AAG>TAG [Lys>STOP]	N/A	HBA2:c.382A>T	α2	Causative	α-thalassaemia	NG_000006.1	34416
2530	CD 127 AAG>AGG [Lys>Arg]	Hb Longview	HBA2:c.383A>G	α2	Causative	α-chain variant	NG_000006.1	34417
3612	CD 127 AAG>ATG [Lys>Met]	N/A	HBA2:c.383A>T	α2	Causative	α-thalassaemia	NG_000006.1	34417
744	CD 127 AAG>ACG [Lys>Thr]	Hb St. Claude	HBA1:c.383A>C \| HBA2:c.383A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	34417, 38228
745	CD 127 AAG>AAT or AAC [Lys>Asn]	Hb Jackson	HBA1:c.384G>C \| HBA1:c.384G>T \| HBA2:c.384G>C \| HBA2:c.384G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34418, 38229
412	CD 129 CTG>CCG [Leu>Pro]	Hb Utrecht	HBA2:c.389T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34423
3613	CD 129 CTG>CGG [Leu>Arg]	N/A	HBA2:c.389T>G	α2	Causative	α-thalassaemia	NG_000006.1	34423
413	CD 130 GCT>CCT [Ala>Pro]	Hb Sun Prairie	HBA2:c.391G>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34425
750	CD 130 GCT>GAT [Ala>Asp]	Hb Yuda	HBA2:c.392C>A	α2	Causative	α-chain variant	NG_000006.1	34426
414	CD 131 TCT>CCT [Ser>Pro]	Hb Questembert	HBA2:c.394T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34428
415	CD 132 GTG>GGG [Val>Gly]	Hb Caen	HBA1:c.398T>G \| HBA2:c.398T>G	α1 or α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34432
756	CD 133 AGC>AAC [Ser>Asn]	Hb Saclay	HBA1:c.401G>A \| HBA2:c.401G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34435, 38246
757	CD 133 AGC>AGA [Ser>Arg] (Hb Footscray)	Hb Val de Marne	HBA2:c.402C>A	α2	Causative	α-chain variant	NG_000006.1	34436
758	CD 134 ACC>GCC [Thr>Ala]	Hb Brunswick	HBA2:c.403A>G	α2	Causative	α-chain variant	NG_000006.1	34437
759	CD 134 ACC>AGC or TCC [Thr>Ser]	Hb Kenton	HBA1:c.403A>T \| HBA1:c.404C>G \| HBA2:c.403A>T \| HBA2:c.404C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34437, 34438, 38248, 38249
761	CD 135 GTG>CTG [Val>Leu]	Hb Tottenham	HBA2:c.406G>C	α2	Causative	α-chain variant	NG_000006.1	34440
764	CD 136 CTG>ATG [Leu>Met]	Hb Chicago	HBA2:c.409C>A	α2	Causative	α-chain variant	NG_000006.1	34443
417	CD 136 CTG>CCG [Leu>Pro]	Hb Bibba	HBA2:c.410T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34444
766	CD 136 CTG>CGG [Leu>Arg]	Hb Toyama	HBA1:c.410T>G \| HBA2:c.410T>G	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34444, 38255
2540	CD 137-138 ACCTCC>ACTCTC	Hb Pohnpei	HBA2:c.414_416delinsTCT	α2	Causative	α-chain variant	NG_000006.1	34448
3333	CD 137 ACC>ACT	N/A	HBA2:c.414C>T	α2	Neutral	N/A	NG_000006.1	34448
768	CD 138 TCC>CCC [Ser>Pro]	Hb Attleboro	HBA1:c.415T>C \| HBA2:c.415T>C	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34449, 38260
770	CD 138 TCC>TTC [Ser>Phe]	Hb Frauenfeld	HBA2:c.416C>T	α2	Causative	α-chain variant	NG_000006.1	34450
772	CD 139 AAA>GAA [Lys>Glu]	Hb Hanamaki-2	HBA2:c.418A>G	α2	Causative	α-chain variant	NG_000006.1	34452
3379	CD 139 AAA>CAA [Lys>Gln]	Hb Jilin	HBA2:c.418A>C	α2	Causative	α-chain variant	NG_000006.1	34452
2981	CD 139 AAA>AGA [Lys>Arg]	Hb Witham	HBA2:c.419A>G	α2	Causative	α-chain variant	NG_000006.1	34453
774	CD 139 AAA>AAC [Lys>Asn]	Hb Fukui	HBA2:c.420A>C	α2	Causative	α-chain variant	NG_000006.1	34454
775	CD 139 (-A)	Hb Wayne	HBA2:c.420delA	α2	Causative	α-chain variant	NG_000006.1	34454
3712	CD 140 TAC>TCC [Tyr>Ser]	Hb Angers	HBA2:c.422A>C	α2	Causative	α-chain variant	NG_000006.1	34456
3732	CD 140 TAC>TAT [Tyr>Tyr]	N/A	HBA2:c.423C>T	α2	Neutral	N/A	NG_000006.1	34457
777	CD 140 TAC>TAA	Hb Natal	HBA2:c.423C>A	α2	Causative	α-chain variant	NG_000006.1	34457
778	CD 141 CGT>CAT [Arg>Ser]	Hb J-Cubujuqui	HBA1:c.424C>A \| HBA2:c.424C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34458, 38269
780	CD 141 CTG>TGT [Arg>Cys]	Hb Nunobiki	HBA2:c.424C>T	α2	Causative	α-chain variant	NG_000006.1	34458
781	CD 141 CGT>CCT [Arg>Pro]	Hb Singapore	HBA2:c.425G>C	α2	Causative	α-chain variant	NG_000006.1	34459
418	CD 142 (TAA>CAA) >172aa	Hb Constant Spring	HBA2:c.427T>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34461
419	CD 142 (TAA>AAA) >172aa	Hb Icaria	HBA2:c.427T>A	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34461
421	CD 142 (TAA>GAA) >172aa	Hb Seal Rock	HBA2:c.427T>G	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34461
785	CD 142 TAA>CAA>CAT	Hb Zurich-Altstetten	HBA2:c.[427T>C;429A>T]	α2	Causative	α-chain variant	NG_000006.1	34461
420	CD 142 TAA>TCA >172aa	Hb Koya Dora	HBA2:c.428A>C	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34462
2526	CD 142 TAA>TTA >172aa	Hb Kinshasa	HBA2:c.428A>T	α2	Causative	α-chain variant	NG_000006.1	34462
422	CD 142 (TAA>TAT) >172aa	Hb Paksé	HBA2:c.429A>T	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34463
2226	3'UTR +46 C>A	N/A	HBA2:c.*46C>A	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34509
3753	3'UTR +71 G>C	N/A	HBA2:c.*71G>C	α2	Causative	α-thalassaemia	NG_000006.1	34534
3733	3'UTR +82 G>A	N/A	HBA2:c.*82G>A	α2	Causative	α-thalassaemia	NG_000006.1	34545
4111	Poly A (AATAAA>AAΑΑΑ)	N/A	HBA2:c.*91delT	α2	Causative	α-thalassaemia	NG_000006.1	34554
425	Poly A (AATAAA>AATGAA) (αPolyA2)	N/A	HBA2:c.*92A>G	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34555
426	Poly A (AATAAA>AATA--)	N/A	HBA2:c.93_94delAA	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34556
424	Poly A (AATAAA>AATAAG) (αPolyA1, αT-Saudi)	N/A	HBA2:c.*94A>G	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34557
427	Poly A (AATAAA>AATAAC)	N/A	HBA2:c.*94A>C	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	34557
3805	Poly A (AATAAA>AATAAG);CD 94 (+21 bp duplication)	N/A	NG_000006.1:g.[34557A>G;37979_379996dup]	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34557
3734	3'UTR +98 T>C	N/A	HBA2:c.*98T>C	α2	Causative	α-thalassaemia	NG_000006.1	34561
2228	3'UTR +107 A>G (3' UTR +832 G>A)	N/A	HBA2:c.*107A>G	α2	Causative	α-thalassaemia	NG_000006.1	34570
3301	TTS +26 A>G	N/A	HBA2:c.*136A>G	α2	Neutral	N/A	NG_000006.1	34599
3740	-5 C>T	N/A	HBA1:c.-42C>T	α1	Neutral	α-thalassaemia	NG_000006.1	37538
3764	-4 G>C	N/A	HBA1:c.-41C>G	α1	Causative	α-thalassaemia	NG_000006.1	37539
3614	CAP +14 C>G	N/A	HBA1:c.-24C>G	α1	Neutral	α-thalassaemia	NG_000006.1	37556
340	CAP +22 T>C	N/A	HBA1:c.-16T>C	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37564
3735	Cap +23 C>G	N/A	HBA1:c.-15C>G	α1	Causative	α-thalassaemia	NG_000006.1	37565
2203	CAP +29 (G>C)	N/A	HBA1:c.-9G>C	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37571
341	Init CD ATG>GTG	N/A	HBA1:c.1A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37580
3147	Init CD ATG>AAG [Met>Lys]	N/A	HBA1:c.2T>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37581
3719	Init CD ATG>ACG [Met>Thr]	N/A	HBA1:c.2T>C	α1	Causative	α-thalassaemia	NG_000006.1	37581
429	CD 1 GTG>TTG [Val>Leu]	Hb Baldock	HBA1:c.4G>T	α1	Causative	α-chain variant	NG_000006.1	37583
435	CD 2 CTG>CGG [Leu>Arg]	Hb Chongqing	HBA1:c.8T>G	α1	Causative	α-chain variant	NG_000006.1	37587
3699	CD 2 CTG>CCG [Leu>Pro]	Hb Kaiser West End	HBA1:c.8T>C	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37587
437	CD 3 TCT>TTT [Ser>Phe]	Hb Douala	HBA1:c.11C>T	α1	Causative	α-chain variant	NG_000006.1	37590
3981	CD 5 GCC>ACC [Ala>Thr]	Hb Hengqin I	HBA1:c.16G>A	α1	Causative	α-chain variant	NG_000006.1	37595
441	CD 5 GCC>GAC [Ala>Asp]	Hb J-Toronto	HBA1:c.17C>A	α1	Causative	α-chain variant	NG_000006.1	37596
442	CD 6 GAC>TAC [Asp>Tyr]	Hb Woodville	HBA1:c.19G>T	α1	Causative	α-chain variant	NG_000006.1	37598
444	CD 6 GAC>CAC [Asp>His]	Hb Galliera I	HBA1:c.19G>C	α1	Causative	α-chain variant	NG_000006.1	37598
3922	CD 6 GAC>GAG [Asp>Glu]	Hb Brammer	HBA1:c.21C>G	α1	Causative	α-chain variant	NG_000006.1	37600
450	CD 7 AAG>GAG [Lys>Glu]	Hb Kurosaki	HBA1:c.22A>G	α1	Causative	α-chain variant	NG_000006.1	37601
2987	CD 9 AAC>GAC [Asn>Asp]	Hb Farnborough	HBA1:c.28A>G	α1	Causative	α-chain variant	NG_000006.1	37607
453	CD 9 AAC>AGC [Asn>Ser]	Hb Anadour	HBA1:c.29A>G	α1	Causative	α-chain variant	NG_000006.1	37608
456	CD 9 AAC>AAG or AAA [Asn>Lys]	Hb Delfzicht	HBA1:c.30C>G \| HBA1:c.30C>A	α1	Causative	α-chain variant	NG_000006.1	37609
3953	CD 11 AAG>CAG [Lys>Gln]	Hb J-Wenchang-Wuming	HBA1:c.34A>C	α1	Causative	α-chain variant	NG_000006.1	37613
461	CD 12 GCC>GAC [Ala>Asp] (Hb J-Aljezur)	Hb J-Paris-I	HBA2:c.38C>A	α2	Causative	α-chain variant	NG_000006.1	37617
2386	CD 13 GCC>ACC [Ala>Thr]	Hb Olivet	HBA1:c.40G>A	α1	Causative	α-chain variant	NG_000006.1	37619
347	CD 14 TGG>CGG [Trp>Arg]	Hb Evanston	HBA1:c.43T>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37622
349	CD 14 TGG>TAG [Trp>STOP]	N/A	HBA1:c.44G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37623
2380	CD 14 TGG>TTG [Trp>Leu]	Hb Basel	HBA1:c.44G>T	α1	Causative	α-chain variant	NG_000006.1	37623
2365	CD 15 GGT>TGT [Gly>Cys]	Hb St. Rose	HBA1:c.46G>T	α1	Causative	α-chain variant	NG_000006.1	37625
465	CD 15 GGT>CGT [Gly>Arg] (Hb Siam)	Hb Ottawa	HBA1:c.46G>C	α1	Causative	α-chain variant	NG_000006.1	37625
466	cd 15 GGT>GAT [Gly>Asp] (Hb J-Oxford , Hb N-Cosenza)	Hb I-Interlaken	HBA1:c.47G>A	α1	Causative	α-chain variant	NG_000006.1	37626
2509	CD 16 AAG>GAG [Lys>Glu] (Hb I-Burlington, Hb I-Philadelphia, Hb I-Skamania, Hb I-Texas)	HbI	HBA1:c.49A>G	α1	Causative	α-chain variant	NG_000006.1	37628
3395	CD 16 AAG>TAG [Lys>STOP]	N/A	HBA1:c.49A>T	α1	Causative	α-thalassaemia	NG_000006.1	37628
468	CD 16 AAG>ATG [Lys>Met]	Hb Harbin	HBA1:c.50A>T	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37629
471	CD 18 GGC>CGC [Gly>Arg]	Hb Handsworth	HBA1:c.55G>C	α1	Causative	α-chain variant	NG_000006.1	37634
2353	CD 18 GGC>TGC [Gly>Cys]	Hb Lima	HBA1:c.55G>T	α1	Causative	α-chain variant	NG_000006.1	37634
3000	CD 18 GGC>AGC [ Gly>Ser]	Hb King Ecgbert	HBA1:c.55G>A	α1	Causative	α-chain variant	NG_000006.1	37634
2285	CD 20 CAC>CCC [His>Pro] (Hb Anderlecht)	Hb Fulton-Georgia	HBA1:c.62A>C	α1	Causative	α-chain variant	NG_000006.1	37641
2317	CD 20 CAC>CAA [His>Gln] (Hb Le Lamentin)	Hb Brugg	HBA1:c.63C>A	α1	Causative	α-chain variant	NG_000006.1	37642
4102	CD 20 CAC>CAG [His>Gln]	Hb Ormylia	HBA1:c.63C>G	α1	Causative	α-chain variant	NG_000006.1	37642
482	CD 21 GCT>GAT [Ala>Asp]	Hb J-Nyanza	HBA1:c.65C>A	α1	Causative	α-chain variant	NG_000006.1	37644
3266	CD 22 GGC>GGT [Gly>Gly]	N/A	HBA1:c.69C>T	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37648
3267	CD 23 GAG>TAG	N/A	HBA1:c.70G>T	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37649
3757	CD 23 GAG>CAG [Glu>Gln]	Hb Memphis	HBA1:c.70G>C	α1	Causative	α-chain variant	NG_000006.1	37649
491	CD 24 TAT>TGT [Tyr>Cys]	Hb Ramona	HBA1:c.74A>G	α1	Causative	α-chain variant	NG_000006.1	37653
3954	CD 16 AAG>AAC [Lys>Asn]	Hb Beijing	HBA1:c.51G>C	α1	Causative	α-chain variant	NG_000006.1	37656
3942	CD 26 GCG>GGG [Ala>Gly]	N/A	HBA1:c.80C>G	α1	Causative	α-thalassaemia	NG_000006.1	37659
2510	CD 27 GAG>GAC [Glu>Asp]	Hb Hekinan	HBA1:c.84G>C	α1	Causative	α-chain variant	NG_000006.1	37663
2983	CD 27 GAG>GAT [Glu>Asp]	Hb Hekinan II	HBA1:c.84G>T	α1	Causative	α-chain variant	NG_000006.1	37663
2995	CD 28 GCC>ACC [Ala>Thr]	Hb Bramall Lane	HBA1:c.85G>A	α1	Causative	α-chain variant	NG_000006.1	37664
3032	CD 28 GCC>TCC [Ala>Ser]	N/A	HBA1:c.85G>T	α1	Causative	α-thalassaemia	NG_000006.1	37664
2313	CD 28 GCC>GTC [Ala>Val]	Hb Nedlands	HBA1:c.86C>T	α1	Causative	α-chain variant	NG_000006.1	37665
2310	CD 29 CTG>GTG [Leu>Val]	Hb Kosovo	HBA1:c.88C>G	α1	Causative	α-chain variant	NG_000006.1	37667
3030	CD 30 GAG>TAG	N/A	HBA1:c.91G>T	α1	Causative	α-thalassaemia	NG_000006.1	37670
3767	CD 30 GAG>AAG [Glu>Lys]	Hb O-Padova	HBA1:c.91G>A	α1	Causative	α-chain variant	NG_000006.1	37670
502	CD 30 GAG>CAG [Glu>Gln] (Hb G-Chinese, Hb G-Hong Kong, Hb G-Singapore)	Hb G-Honolulu	NM_000558.5(HBA1):c.91G>C	α1	Causative	α-chain variant	NG_000006.1	37670
504	CD 30 GAG>GCG [Glu>Ala]	Hb Bom Jesus da Lapa	HBA1:c.92A>C	α1	Causative	α-chain variant	NG_000006.1	37671
505	CD 30 GAG>GTG [Glu>Val]	Hb Itapira	HBA1:c.92A>T	α1	Causative	α-chain variant	NG_000006.1	37671
2402	CD 31 AGG>ACG [Arg>Thr]	Hb Mao	HBA1:c.95G>C	α1	Causative	α-chain variant	NG_000006.1	37674
3049	IVS I-1 AGGT>AGCT donor	N/A	HBA1:c.95+1G>C	α1	Causative	α-thalassaemia	NG_000006.1	37675
358	IVS I-1 AGGT>AGAT donor	N/A	HBA1:c.95+1G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37675
2204	IVS I-4 A>G	N/A	HBA1:c.95+4A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37678
361	IVS I-5 G>A	N/A	HBA1:c.95+5 G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37679
3431	IVS I-38 C>T	N/A	HBA1:c.95+38C>T	α1	Causative	α-thalassaemia	NG_000006.1	37712
3768	IVS I-39 C>T	N/A	HBA1:c.95+39C>T	α1	Neutral	N/A	NG_000006.1	37713
3782	IVS I-41 G>T	N/A	NM_000558.5(HBA1):c.95+41G>T	α1	Neutral	N/A	NG_000006.1	37715
2212	IVS I-45 G>C	N/A	HBA1:c.95+45G>C	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37719
2451	IVS I-116 A>G	N/A	HBA1:c.96-2A>G	α1	Causative	α-thalassaemia	NG_000006.1	37790
3251	IVS I-117 GCAGGA>GCACGA acceptor	N/A	HBA1:c.96-1G>C	α1	Causative	α-thalassaemia	NG_000006.1	37791
364	IVS I-117 GCAGGA>GCAAGA acceptor	N/A	HBA1:c.96-1G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37791
2381	CD 32 ATG>AAG [Met>Lys] (Hb Chao Pra Ya)	Hb Queens Park	HBA1:c.98T>A	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37794
2986	CD 32 ATG>ACG [Met>Thr]	Hb Bridlington	HBA1:c.98T>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37794
3252	CD 32 ATG>ATA [Met>Ile]	Hb Amsterdam-A1	HBA1:c.99G>A	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37795
509	CD 34 CTG>CGG [Leu>Arg] (Hb Ogi)	Hb Queens	HBA1:c.104T>G	α1	Causative	α-chain variant	NG_000006.1	37800
2968	CD 36 TTC>TAC [ Phe>Tyr]	Hb Kempten	HBA1:c.110T>A	α1	Causative	α-chain variant	NG_000006.1	37806
517	CD 38 ACC>ATC [Thr>Ile]	Hb Chelsea	HBA1:c.116C>T	α1	Causative	α-chain variant	NG_000006.1	37812
522	CD 40 AAG>ACG [Lys>Thr]	Hb Pisa	HBA1:c.122A>C	α1	Causative	α-chain variant	NG_000006.1	37818
523	CD 40 AAG>AAC [Lys>Asn]	Hb Saratoga Springs	HBA1:c.123G>C	α1	Causative	α-chain variant	NG_000006.1	37819
2385	CD 42 TAC>TCC [Tyr>Ser]	Hb Erzeroum	HBA1:c.128A>C	α1	Causative	α-chain variant	NG_000006.1	37824
3557	CD 43 TTC>CTC [Phe>Leu]	Hb Vanvitelli	HBA1:c.130T>C	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37826
530	CD 44 CCG>GCG [Pro>Ala] (Hb Milne)	Hb Hagerstown	HBA1:c.133C>G	α1	Causative	α-chain variant	NG_000006.1	37829
3264	CD 44 CCG>TCG [Pro>Ser]	Hb Wiangpapao	HBA1:c.133C>T	α1	Causative	α-chain variant	NG_000006.1	37829
536	CD 45 CAC>CGC [His>Arg]	Hb Fort de France	HBA1:c.137A>G	α1	Causative	α-chain variant	NG_000006.1	37833
542	CD 47 GAC>AAC [Asp>Asn]	Hb Arya	HBA1:c.142G>A	α1	Causative	α-chain variant	NG_000006.1	37838
2500	CD 47 GAC>CAC [Asp>His] (Hb L-Ferrara, Hb Michigan-I, Hb Michigan-II, Hb Sealy, Hb Sinai)	Hb Hasharon	HBA1:c.142G>C	α1	Causative	α-chain variant	NG_000006.1	37838
547	CD 48 CTG>CCG [Leu>Pro]	Hb Reading	HBA1:c.146T>C	α1	Causative	α-chain variant	NG_000006.1	37842
3040	CD 48 CTG>CGG [Leu>Arg]	Hb Montgomery	HBA1:c.146T>G	α1	Causative	α-chain variant	NG_000006.1	37842
3026	CD 49 AGC>CGC [Ser>Arg]	Hb Puerta del Sol	HBA1:c.148A>C	α1	Causative	α-chain variant	NG_000006.1	37844
2993	CD 49 AGC>AAC [Ser>Asn]	Hb Furuset	HBA1:c.149G>A	α1	Causative	α-chain variant	NG_000006.1	37845
550	CD 50 CAC>CTC [His>Leu]	Hb Dublin	NM_000558.5(HBA1):c.152A>T	α1	Causative	α-chain variant	NG_000006.1	37848
2501	CD 50 CAC>CAG [His>Gln]	Hb Frankfurt	HBA1:c.153C>G	α1	Causative	α-chain variant	NG_000006.1	37849
2502	CD 51 GGC>CGC [Gly>Arg]	Hb Russ	HBA1:c.154G>C	α1	Causative	α-chain variant	NG_000006.1	37850
553	CD 51 GGC>AGC [Gly>Ser]	Hb Riccarton	HBA1:c.154G>A	α1	Causative	α-chain variant	NG_000006.1	37850
375	CD 51-55 (-13 bp deletion)	N/A	HBA1:c.155_167delGCTCTGCCCAGGT	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37851
3560	CD 52 TCT>TGT [Ser>Cys]	Hb Dongguan	HBA1:c.158C>G	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37854
4009	CD53 GCC>ACC [Ala>Thr] (g.443 (GenBank MK600512.1))	N/A	HBA1:c.160G>A	α1	Causative	α-thalassaemia	NG_000006.1	37856
559	CD 54 CAG>GAG [Gln>Glu] (Hb J-Paris-II, Hb Uppsala)	Hb Mexico	HBA1:c.163C>G	α1	Causative	α-chain variant	NG_000006.1	37859
560	CD 54 CAG>CGG [Gln>Arg] (Hb Hikoshima)	Hb Shimonoseki	HBA1:c.164A>G	α1	Causative	α-chain variant	NG_000006.1	37860
2417	CD 54 CAG>CGG [Gln>Arg]	Hb Shimonoseki	HBA1:c.164A>G	α1, α3.7 hybrid	Causative	α-thalassaemia	NG_000006.1	37860
3626	CD 54 CAG>CAT [Gln>His]	Hb Goole	HBA1:c.165G>T	α1	Causative	α-chain variant	NG_000006.1	37861
561	CD 55 GTT>CTT [Val>Leu] (Hb Poland)	Hb Roubaix	HBA1:c.166G>C	α1	Causative	α-chain variant	NG_000006.1	37862
562	CD 55 GTT>GCT [Val>Ala] (Hb Gerland 1)	Hb Gerland	HBA1:c.167T>C	α1	Causative	α-chain variant	NG_000006.1	37863
566	CD 56 AAG>ACG [Lys>Thr]	Hb Thailand	HBA1:c.170A>C	α1	Causative	α-chain variant	NG_000006.1	37866
567	CD 56 AAG>AAT or AAC [Lys>Asn]	Hb Belliard	HBA1:c.171G>C \| HBA1:c.171G>T	α1	Causative	α-chain variant	NG_000006.1	37867
568	CD 57 GGC>CGC [Gly>Arg]	Hb L-Persian Gulf	HBA1:c.172G>C	α1	Causative	α-chain variant	NG_000006.1	37868
3962	CD 57 GGC>TGC [Gly>Cys]	Hb Kirikiriroa	HBA1:c.172G>T	α1	Causative	α-chain variant	NG_000006.1	37868
3175	CD 58 CAC>CTC [His>Leu]	Hb Kirklareli	HBA1:c.176A>T	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37872
3280	CD 59 GGC>CGC [Gly>Arg]	Hb Zurich-Albisrieden	HBA1:c.178G>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37874
573	CD 59 GGC>AGC [Gly>Ser]	Hb Parma	HBA1:c.178G>A	α1	Causative	α-chain variant	NG_000006.1	37874
378	CD 59 GGC>GAC [Gly>Asp]	Hb Adana	HBA1:c.179G>A	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37875
3624	CD 60 AAG>GAG [Lys>Glu]	Hb Liuzhou	HBA1:c.182A>G	α1	Causative	α-chain variant	NG_000006.1	37878
578	CD 60 AAG>AAT	Hb Zambia	HBA1:c.183G>T	α1	Causative	α-chain variant	NG_000006.1	37879
3334	CD 61 AAG>TAG [Lys>STOP]	N/A	HBA1:c.184A>T	α1	Causative	α-thalassaemia	NG_000006.1	37880
2982	CD 61 AAG>AGG [Lys>Arg]	Hb Derby	HBA1:c.185A>G	α1	Causative	α-chain variant	NG_000006.1	37881
582	CD AAG>AAT [Lys>Asn]	Hb J-Buda	HBA1:c.186G>T	α1	Causative	α-chain variant	NG_000006.1	37882
2429	CD 62 GTG>GCG [Val>Ala]	N/A	HBA1:c.188T>C	α1	Causative	α-thalassaemia	NG_000006.1	37884
3015	CD 63 GCC>ACC [Ala>Thr]	Hb Greenville-NC	HBA1:c.190G>A	α1	Causative	α-chain variant	NG_000006.1	37886
585	CD 63 GCC>GAC [Ala>Asp] (Hb J-Pontoise)	Hb Pontoise	NM_000558.5(HBA1):c.191C>A	α1	Causative	α-chain variant	NG_000006.1	37887
587	CD 64 GAC>CAC [Asp>His]	Hb Q-India	HBA1:c.193G>C	α1	Causative	α-chain variant	NG_000006.1	37889
2528	CD 64 GAC>AAC [Asp>Asn] (Hb Wädenswil, Hb Burgos)	Hb G-Waimanalo	HBA1:c.193G>A	α1	Causative	α-chain variant	NG_000006.1	37889
2455	CD 64 GAC>GCC [Asp>Ala]	Hb Lucan	HBA1:c.194A>C	α1	Causative	α-chain variant	NG_000006.1	37890
3788	CD 65 GCG>CCG [Ala>Pro]	Hb Maruchi	HBA1:c.196G>C	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37892
594	CD 68 AAC>CAC [Asn>His]	Hb Jeddah	HBA1:c.205A>C	α1	Causative	α-chain variant	NG_000006.1	37901
3755	CD 69 GCC>GCT [Ala>Ala]	N/A	HBA1:c.210C>T	α1	Neutral	N/A	NG_000006.1	37906
4007	CD 70 GTG>TTG [Val>Leu] (g.494 (GenBank MK600512.1))	N/A	HBA1:c.211G>T	α1	Causative	α-thalassaemia	NG_000006.1	37907
599	CD 70 GTG>ATG [Val>Met]	Hb Haaksbergen	HBA1:c.211G>A	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37907
2358	CD 71 GCG>GTG [Ala>Val] (Hb Ozieri)	Hb Allison Park	HBA1:c.215C>T	α1	Causative	α-chain variant	NG_000006.1	37911
3312	CD 72 CAC>CAG [His>Gln]	Hb Madonie	HBA1:c.219C>G	α1	Causative	α-chain variant	NG_000006.1	37915
2996	CD 73 GTG>ATG [Val>Met]	Hb Argenteuil	HBA1:c.220G>A	α1	Causative	α-chain variant	NG_000006.1	37916
3759	CD 74 GAC>AAC [Asp>Asn]	Hb G-Pest	HBA1:c.223G>A	α1	Causative	α-chain variant	NG_000006.1	37919
3848	-α4.2-Q-Thailand	N/A	N/A	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37919
607	CD 74 GAC>CAC [Asp>His] (Hb Asabara, Hb G-Taichung, Hb Kurashiki-I, Hb Mahidol)	Hb Q-Thailand	HBA1:c.223G>C	α1	Causative	α-chain variant	NG_000006.1	37919
608	CD 74 GAC>GTC [Asp>Val]	Hb Les Lilas	HBA1:c.224A>T	α1	Causative	α-chain variant	NG_000006.1	37920
609	CD 74 GAC>GGC [Asp>Gly]	Hb Chapel Hill	HBA1:c.224A>G	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37920
3875	CD 74 GAC>GAG [Asp>Glu]	Hb Jishui	HBA1:c.225C>G	α1	Causative	α-chain variant	NG_000006.1	37921
2503	CD 75 GAC>TAC [Asp>Tyr]	Hb Winnipeg	HBA1:c.226G>T	α1	Causative	α-chain variant	NG_000006.1	37922
3760	CD 75 GAC>AAC [Asp>Asn]	Hb Matsue-Oki	HBA1:c.226G>A	α1	Causative	α-chain variant	NG_000006.1	37922
2485	CD 77 CCC>TCC [Pro>Ser]	Hb Nile	HBA1:c.232C>T	α1	Causative	α-chain variant	NG_000006.1	37928
2504	CD 77 CCC>CAC [Pro>His]	Hb Toulon	HBA1:c.233C>A	α1	Causative	α-chain variant	NG_000006.1	37929
625	CD 78 AAC>CAC [Asn>His]	Hb Davenport	HBA1:c.235A>C	α1	Causative	α-chain variant	NG_000006.1	37931
2505	CD 78 AAC>AAG [Asn>Lys]	Hb Stanleyville-II	HBA1:c.237C>G	α1	Causative	α-chain variant	NG_000006.1	37933
3897	CD 78 AAC>AAA [Asn>Lys]	Hb Qinzhou	HBA1:c.237C>A	α1	Causative	α-chain variant	NG_000006.1	37933
4081	CD 79 GCG>GTG [Ala>Val]	Hb Tangshan	HBA1:c.239C>T	α1	Causative	α-chain variant	NG_000006.1	37935
632	CD 81 TCC>TGC [Ser>Cys]	Hb Nigeria	HBA1:c.245C>G	α1	Causative	α-chain variant	NG_000006.1	37941
387	CD 82-84 (-9 bp)	N/A	HBA1:c.247_255del	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37943
633	CD 82 GCC>ACC (Ala>Thr)	Hb Hagley Park	HBA1:c.247G>A	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37943
2281	CD 83 CTG>CGG [Leu>Arg]	Hb Ahvaz	HBA2: c.251T>G	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37947
637	CD 84 AGC>AGA [Ser>Arg]	Hb Etobicoke	HBA1:c.255C>A	α1	Causative	α-chain variant	NG_000006.1	37949
639	CD 85 GAC>AAC [Asp>Asn]	Hb G-Norfolk	HBA1:c.256G>A	α1	Causative	α-chain variant	NG_000006.1	37952
641	CD 85 GAC>CAC [Asp>His]	Hb Canuts	HBA1:c.256G>C	α1	Causative	α-chain variant	NG_000006.1	37952
2336	CD 86 CTG>GTG [Leu>Val]	N/A	HBA1:c.259C>G	α1	Causative	α-chain variant	NG_000006.1	37955
4098	CD 86 CTG>CCG [Leu>Pro]	Hb Thessaloniki	HBA1:c.260T>C	α1	Causative	α-chain variant	NG_000006.1	37956
2506	CD 87 CAC>TAC [His>Tyr] (Hb M-Kankakee , Hb M-Oldenburg , Hb M-Sendai)	Hb M-Iwate	HBA1:c.262C>T	α1	Causative	α-chain variant	NG_000006.1	37958
647	CD 87 CAC>GAC [His>Asp]	Hb Bonn	HBA1:c.262C>G	α1	Causative	α-chain variant	NG_000006.1	37958
649	CD 87 CAC>CCC [His>Pro]	Hb Grifton	HBA1:c.263A>C	α1	Causative	α-chain variant	NG_000006.1	37959
3879	CD 87 CAC>CTC [His>Leu]	Hb Padma River	HBA1:c.263A>T	α1	Causative	α-chain variant	NG_000006.1	37959
3434	CD 87 CAC>CAG [His>Gln]	Hb Lansing-Ramathibodi	HBA1:c.264C>G	α1	Causative	α-chain variant	NG_000006.1	37960
658	CD 89 CAC>CAG [His>Gln]	Hb Buffalo	HBA1:c.270C>G	α1	Causative	α-chain variant	NG_000006.1	37966
3630	CD 90 AAG>CAG [Lys>Gln]	Hb Luocheng	HBA1:c.271A>C	α1	Causative	α-chain variant	NG_000006.1	37967
662	CD 90 AAG>AGG [Lys>Arg]	Hb Clinico Madrid II	HBA1:c.272A>G	α1	Causative	α-chain variant	NG_000006.1	37968
663	CD 90 AAG>ACG	Hb J-Rajappen	HBA1:c.272A>C	α1	Causative	α-chain variant	NG_000006.1	37968
3756	CD 90 AAG>AAC [Lys>Asn]	Hb J-Broussais	HBA1:c.273G>C	α1	Causative	α-chain variant	NG_000006.1	37969
3993	CD 90 AAG>AAT [Lys>Asn]	Hb Guigang	HBA1:c.273G>T	α1	Causative	α-chain variant	NG_000006.1	37969
665	CD 91 CTT>TTT [Leu>Phe] (Hb Grey Lynn)	Hb Vientiane	HBA1:c.274C>T	α1	Causative	α-chain variant	NG_000006.1	37970
668	CD 92 CGG>CAG [Arg>Gln]	Hb J-Cape Town	HBA1:c.278G>A	α1	Causative	α-chain variant	NG_000006.1	37973
3852	CD 93 GTG>ATG [Val>Met]	Hb Qingcheng	HBA1:c.280G>A	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37976
672	CD 93 GTG>GCG [Val>Ala]	Hb Die	HBA1:c.281T>C	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37977
2507	CD 94 GAC>AAC [Asp>Asn]	Hb Titusville	HBA1:c.283G>A	α1	Causative	α-chain variant	NG_000006.1	37979
677	CD 94 GAC>GCC [Asp>Ala]	Hb Bassett	HBA1:c.284A>C	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37980
678	CD 94 GAC>GGC [Asp>Gly]	Hb Çapa	HBA1:c.284A>G	α1	Causative	α-chain variant	NG_000006.1	37980
681	CD 95 CCG>ACG [Pro>Thr]	Hb Godavari	NM_000558.3(HBA1):c.286C>A	α1	Causative	α-chain variant	NG_000006.1	37982
684	CD 95 CCG>CGG [Pro>Arg]	Hb St. Luke's	HBA1:c.287C>G	α1	Causative	α-chain variant	NG_000006.1	37983
685	CD 95 CCG>CAG [Pro>Gln]	Hb Wichita	HBA1:c.287C>A	α1	Causative	α-chain variant	NG_000006.1	37983
3718	CD 95 CCG>CTG [Pro>Leu]	Hb Georgia	HBA1:c.287C>T	α1	Causative	α-chain variant	NG_000006.1	37983
2357	CD 96 GTC>CTC [Val>Leu]	Hb Woodstock	HBA1:c.289G>C	α1	Causative	α-chain variant	NG_000006.1	37985
3914	CD 97 AAC>AGC [Asn>Ser]	Hb Northwood	HBA1:c.293A>G	α1	Causative	α-chain variant	NG_000006.1	37989
690	CD 99 AAG>GAG [Lys>Glu] (Hb Turriff-I)	Hb Turriff	NM_000558.5(HBA1):c.298A>G	α1	Causative	α-chain variant	NG_000006.1	37994
2467	CD 99 AAG>TAG	N/A	HBA1:c.298A>T	α1	Causative	α-thalassaemia	NG_000006.1	37994
691	CD 99 AAG>AAT [Lys>Asn] (Hb Harlow)	Hb Beziers	HBA1:c.300G>T	α1	Causative	α-chain variant	NG_000006.1	37996
3031	IVS II-1 G>A	N/A	HBA1:c.300+1G>A	α1	Causative	α-thalassaemia	NG_000006.1	37997
3736	IVS II-55 G>T	N/A	HBA1:c.300+55G>T	α1	Causative	α-thalassaemia	NG_000006.1	38051
3737	IVS II-58 G>A	N/A	HBA1:c.300+58G>A	α1	Causative	α-thalassaemia	NG_000006.1	38054
4005	IVS II-96 G>C (g.679 (GenBank MK600512.1))	N/A	HBA1:c.300+96G>C	α1	Causative	α-thalassaemia	NG_000006.1	38092
3738	IVS II-141 T>C	N/A	HBA1:c.301-9T>C	α1	Causative	α-thalassaemia	NG_000006.1	38137
2222	IVS II-147 C>G	N/A	HBA1:c.301-3C>G	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	38143
393	IVS II-148 A>G consensus	N/A	HBA1:c.301-2A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	38144
2303	CD 100 CTC>TTC (Leu>Phe)	Hb Weesp	HBA1:c.301C>T	α1	Causative	α-chain variant	NG_000006.1	38146
2305	CD 100 CTC>CCC [Leu>Pro]	Hb Corsica	HBA1:c.302T>C	α1	Causative	α-chain variant	NG_000006.1	38147
2985	CD 102 AGC>CGC [Ser>Arg]	Hb Manitoba IV	HBA1:c.307A>C	α1	Causative	α-chain variant	NG_000006.1	38152
693	CD 102 AGC>AGA [Ser>Arg]	Hb Manitoba II	HBA1:c.309C>A	α1	Causative	α-chain variant	NG_000006.1	38154
695	CD 103 CAC>TAC [His>Tyr]	Hb Charolles	HBA1:c.310C>T	α1	Causative	α-chain variant	NG_000006.1	38155
2532	CD 103 CAC>GAC [His>Asp]	Hb Illinois	HBA1:c.310C>G	α1	Causative	α-chain variant	NG_000006.1	38155
395	CD 104 TGC>AGC [Cys>Ser]	Hb Oegstgeest	HBA1:c.313T>A	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38158
3956	CD 104 TGC>TAC [Cys>Tyr]	Hb Sallanches	HBA1:c.314G>A	α1	Causative	α-chain variant	NG_000006.1	38159
2340	CD 104 TGC>TGG [Cys>Trp]	Hb Donnington	HBA1:c.315C>G	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38160
701	CD 106 CTG>CCG [Leu>Pro]	Hb Charlieu	HBA1:c.320T>C	α1	Causative	α-chain variant	NG_000006.1	38165
2315	CD 110 GCC>GTC [Ala>Val] (Hb White Rose)	Hb Montluel	HBA1:c.332C>T	α1	Causative	α-chain variant	NG_000006.1	38177
708	CD 112 CAC>GAC [His>Asp]	Hb Hopkins-II	NM_000558.5(HBA1):c.337C>G	α1	Causative	α-chain variant	NG_000006.1	38182
2377	CD 112 CAC>CAA [His>Gln]	Hb West Allis	HBA1:c.339C>A	α1	Causative	α-chain variant	NG_000006.1	38184
2316	CD 114 CCC>GCC [Pro>Ala]	Hb Broomhill	NM_000558.5(HBA1):c.343C>G	α1	Causative	α-chain variant	NG_000006.1	38188
3378	CD 114 CCC>CAC [Pro>His]	Hb Hubei	HBA1:c.344C>A	α1	Causative	α-chain variant	NG_000006.1	38189
715	CD 114 CCC>CTC [Pro>Leu]	Hb Nouakchott	NM_000558.3(HBA1):c.344C>T	α1	Causative	α-chain variant	NG_000006.1	38189
2322	CD 115 GCC>GTC [Ala>Val]	Hb Palmela	HBA1:c.347C>T	α1	Causative	α-chain variant	NG_000006.1	38192
3864	CD 116 GAG>TAG [Glu>Stop]	N/A	HBA1:c.349G>T	α1	Causative	α-thalassaemia	NG_000006.1	38194
720	CD 116 GAG>AAG [Glu>Lys] (Hb Buginese-X, Hb Oliviere)	Hb O-Indonesia	HBA1:c.349G>A	α1	Causative	α-chain variant	NG_000006.1	38194
719	CD 116 GAG>GCG [Glu>Ala]	Hb Ube-4	HBA1:c.350A>C	α1	Causative	α-chain variant	NG_000006.1	38195
724	CD 117/118 +ATC [+Ile]	Hb Phnom Penh	HBA1:c.354_355insATC	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38199
3036	CD 117/118 +TCA [+Ser]	Hb Wexham	HBA1:c.354_355insTCA	α1	Causative	α-chain variant	NG_000006.1	38199
406	CD 119 CCT>TCT [Pro>Ser] (Hb Bemalda P, Hb Bernalda)	Hb Groene Hart	HBA1:c.358C>T	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38203
726	CD 119 CCT>CTT [Pro>Leu]	Hb Diamant	HBA1:c.359C>T	α1	Causative	α-chain variant	NG_000006.1	38204
2508	CD 120 GCG>GAG [Ala>Glu] (Hb J-Birmingham)	Hb J-Meerut	HBA1:c.362C>A	α1	Causative	α-chain variant	NG_000006.1	38207
728	CD 121 GTG>ATG [Val>Met]	Hb Owari	HBA1:c.364G>A	α1	Causative	α-chain variant	NG_000006.1	38209
729	CD 122 CAC>TAC [His>Tyr]	Hb Yanase	HBA1:c.367C>T	α1	Causative	α-chain variant	NG_000006.1	38212
3751	CD 122 CAC>GAC [His>Asp]	Hb Daxin	HBA1:c.367C>G	α1	Causative	α-chain variant	NG_000006.1	38212
407	CD 123 GCC >CCC [Ala>Pro]	Hb Voreppe	HBA1:c.370G>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38215
733	CD 123 GCC>TCC [Ala>Ser]	Hb Mulhacen	HBA1:c.370G>T	α1	Causative	α-chain variant	NG_000006.1	38215
3016	CD 123 GCC>GTC [Ala>Val]	Hb Louisa	HBA1:c.371C>T	α1	Causative	α-chain variant	NG_000006.1	38216
2984	CD124 TCC>TGC [Ser>Cys]	Hb Harehills	HBA1:c.374C>G	α1	Causative	α-chain variant	NG_000006.1	38219
2414	CD 125 CTG>CCG [Leu>Pro]	Hb Quong Sze II	HBA1:c.377T>C	α1	Causative	α-chain variant	NG_000006.1	38222
738	CD 126 GAC>CAC [Asp>His]	Hb Sassari	HBA1:c.379G>C	α1	Causative	α-chain variant	NG_000006.1	38224
739	CD 126 GAC>TΑC [Asp>Tyr]	Hb Montefiore	HBA1:c.379G>T	α1, α1 or α2	Causative	α-chain variant	NG_000006.1	38224
2408	CD 126 GAC>GCC [Asp>Ala]	Hb Verdun	HBA1:c.380A>C	α1	Causative	α-chain variant	NG_000006.1	38225
743	CD 126 GAC>GAG [Asp>Glu]	Hb Burlington	HBA1:c.381C>G	α1	Causative	α-chain variant	NG_000006.1	38226
3380	CD 127 AAG>GAG [Lys>Glu]	Hb Shantou	HBA1:c.382A>G	α1	Causative	α-chain variant	NG_000006.1	38227
3789	CD 127 AAG>CAG [Lys>Gln]	Hb Waikato	HBA1:c.382A>C	α1	Causative	α-chain variant	NG_000006.1	38227
411	CD 129 CTG>CCG [Leu>Pro]	Hb Tunis-Bizerte	NM_000558.3(HBA1):c.389T>C	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	38234
749	CD 130 GCT>GTT [Ala>Val]	Hb Westborough	HBA1:c.392C>T	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	38237
752	CD 131 TCT>TTT	Hb Lusaka	HBA1:c.395C>T	α1	Causative	α-chain variant	NG_000006.1	38240
753	CD 131 TCT>TC-	Hb Fez	HBA1:c.396delT	α1	Causative	α-chain variant	NG_000006.1	38241
3695	CD 131 TCT>TCC [Ser>Ser]	N/A	HBA1:c.396T>C	α1	Neutral	N/A	NG_000006.1	38241
2323	CD 132 GTG>ATG [Val>Met]	Hb Portimão	HBA1:c.397G>A	α1	Causative	α-chain variant	NG_000006.1	38242
3723	CD 132 GTG>GCG [Val>Ala]	N/A	HBA1:c.398T>C	α1	Causative	α-chain variant	NG_000006.1	38243
4027	CD 133 AGC>CGC [Ser>Arg]	Hb Val de Marne	HBA2:c.400A>C	α2	Causative	α-chain variant	NG_000006.1	38245
762	CD 135 GTG>CTG [Val>Met]	Hb Trenton	HBA1:c.406G>A	α1	Causative	α-chain variant	NG_000006.1	38251
763	CD 135 GTG>ATG [Val>Glu]	Hb Pavie	HBA1:c.407T>A \| HBA2:c.407T>A	α1 or α2	Causative	α-chain variant	NG_000006.1	38252
3724	CD 136 CTG>CAG [Leu>Gln]	N/A	HBA1:c.410T>A	α1	Causative	α-chain variant	NG_000006.1	38255
767	CD 137 ACC>CCC [Thr>Pro]	Hb Verona	HBA1:c.412A>C	α1	Causative	α-chain variant	NG_000006.1	38257
3802	CD 138 TCC>GCC [Ser>Ala]	Hb Paynesville	HBA1:c.415T>G	α1	Causative	α-chain variant	NG_000006.1	38260
769	CD 138 TCC>TGC [Ser>Cys]	Hb Ecuador	HBA1:c.416C>G	α1	Causative	α-chain variant	NG_000006.1	38261
771	CD 139 AAA>GAA [Ala>Glu]	Hb Hanamaki-1	HBA1:c.418A>G	α1	Causative	α-chain variant	NG_000006.1	38263
4017	CD 139 AAA>TAA [Lys>STOP] (Tenerife)	Hb Nivaria	HBA1:c.418A>T	α1	Causative	α-chain variant	NG_000006.1	38263
773	CD 139 AAA>ACA [Lys>Thr]	Hb Tokoname	NM_000558.5(HBA1):c.419A>C	α1	Causative	α-chain variant	NG_000006.1	38264
776	CD 140 TAC>CAC [Tyr>His]	Hb Ethiopia	NM_000558.5(HBA1):c.421T>C	α1	Causative	α-chain variant	NG_000006.1	38266
3972	CD 140 TAC>TAA [Tyr>STOP]	Hb Natal	HBA1:c.423C>A	α1	Causative	α-chain variant	NG_000006.1	38268
779	CD 141 CGT>GGT [Arg>Gly]	Hb J-Camagüey	NM_000558.3(HBA1):c.424C>G	α1	Causative	α-chain variant	NG_000006.1	38269
782	CD 141 CGT>CTT [Arg>Leu]	Hb Legnano	HBA1:c.425G>T	α1	Causative	α-chain variant	NG_000006.1	38270
783	CD 141 CGT>CAT [Arg>His]	Hb Suresnes	NM_000558.3(HBA1):c.425G>A	α1	Causative	α-chain variant	NG_000006.1	38270
3302	3'UTR +46 C>A	N/A	HBA1:c.*46C>A	α1	Causative	α-thalassaemia	NG_000006.1	38320
2225	Poly A (G>A) AATAAAG>AATAAAA	N/A	HBA1:c.*96G>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	38370
3890	CD 18 GGC>TGC [Gly>Cys]	Hb Jiujiang	HBA2:c.55G>T	α2	Causative	α-chain variant	NG_000006.1	172967
3826	rs6578598	N/A	NC_000011.10:g.5297978A>G	OR51AB1P-OR51B4	Modifier	Severity	NG_000007.3
3828	rs449937	N/A	NC_000011.10:g.5469115G>A	OR51B5	Modifier	Severity	NG_000007.3
3881	rs3759071	N/A	NC_000011.10:g.5270302G>A \| NC_000011.10:g.5270302G>T	ε	Modifier	Hb F levels	NG_000007.3
3882	rs3813726	N/A	NC_000011.10:g.5234759T>A \| NC_000011.10:g.5234759T>C	δ	Modifier	Hb F levels	NG_000007.3
2378	CD 6 GAG>CAG [Glu>Gln]	Hb A2-Ramallah	HBD:c.19G>C	δ	Causative	δ-chain variant	NG_000007.3	0
3825	rs3888708	N/A	NG_000007.3:g.466G>T	OR51AB1P-OR51B4	Modifier	Severity	NG_000007.3	466
3824	rs7933082	N/A	NG_000007.3:g.2115C>G	OR51AB1P-OR51B4	Modifier	Severity	NG_000007.3	2115
3107	rs4601817	N/A	NG_000007.3:g.6445T>C	βLCR	Modifier	Hb F levels, Severity	NG_000007.3	6445
2812	rs11036639	N/A	NG_000007.3:g.8340T>G	βLCR	Modifier	Hb F levels, Severity	NG_000007.3	8340
2950	rs16912979	N/A	NG_000007.3:g.9151A>G	βLCR	Modifier	Hb F levels	NG_000007.3	9151
3106	rs11036634	N/A	NG_000007.3:g.10118G>A	βLCR	Modifier	Hb F levels, Severity	NG_000007.3	10118
2792	rs4910742	N/A	NG_000007.3:g.12337C>T	βLCR	Modifier	Hb F levels, Abnormal red blood cell count	NG_000007.3	12337
3260	rs7119428	N/A	NG_000007.3:g.16766T>G	βLCR	Modifier	Hb F levels	NG_000007.3	16766
3261	rs9736333	N/A	NG_000007.3:g.16784A>G	βLCR	Modifier	Hb F levels	NG_000007.3	16784
2718	rs7130110	N/A	NG_000007.3:g.22742C>G	ε	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_000007.3	22742
2813	rs11036562	N/A	NG_000007.3:g.24701G>T	ε	Modifier	Hb F levels, Severity	NG_000007.3	24701
3820	rs3759069	N/A	NG_000007.3:g.27016T>A	ε	Modifier	Severity	NG_000007.3	27016
2727	rs3759070	N/A	NG_000007.3:g.27218G>C	ε	Modifier	Hb F levels, Severity	NG_000007.3	27218
3185	rs67385638	N/A	NG_000007.3:g.28476G>C	ε	Modifier	Hb F levels	NG_000007.3	28476
3880	rs72872549	N/A	NC_000011.10:g.5268823C>T	ε	Modifier	Hb F levels	NG_000007.3	28793
2824	rs4910740	N/A	NG_000007.3:g.31556C>T	HBG2-HBE1	Modifier	Hb F levels, Severity	NG_000007.3	31556
2814	rs10837707	N/A	NG_000007.3:g.32038A>G	HBG2-HBE1	Modifier	Hb F levels, Severity	NG_000007.3	32038
3417	rs4348933 (rs11036509)	N/A	NG_000007.3:g.33868T>C \| NG_000007.3:g.33868T>G	HBG2-HBE1	Modifier	Hb F levels	NG_000007.3	33868
3819	rs7480802	N/A	NG_000007.3:g.36338A>G	HBG2-HBE1	Modifier	Severity	NG_000007.3	36338
3818	rs10160820	N/A	NG_000007.3:g.36389T>G	HBG2-HBE1	Modifier	Severity	NG_000007.3	36389
2825	rs10128653	N/A	NG_000007.3:g.41385T>G	Gγ	Modifier	Hb F levels	NG_000007.3	41385
3411	rs2855121	N/A	NG_000007.3:g.41555G>A	Gγ	Modifier	Hb F levels, Severity	NG_000007.3	41555
2826	rs2855122	N/A	NG_000007.3:g.41610G>A	Gγ	Modifier	Hb F levels	NG_000007.3	41610
2874	rs2855123	N/A	NG_000007.3:g.41768T>A	Gγ	Modifier	Hb F levels, Severity	NG_000007.3	41768
3816	rs2011051	N/A	NG_000007.3:g.42028C>A	Gγ	Modifier	Severity	NG_000007.3	42028
1554	-567 T>G (Iranian non-deletional HPFH)	N/A	HBG2:c.-620T>G	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42268
1555	-202 C>G (Black non-deletional HPFH)	N/A	HBG2:c.-255C>G	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42633
2300	-197 C>T	N/A	HBG2:c.-250c>T	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42638
1557	-196 C>T (Greek non-deletional HPFH)	N/A	HBG2:c.-249C>T	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42639
1558	-175 T>C (Black/Sardinian/British non-deletional HPFH)	N/A	HBG2:c.-228T>C	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42660
2127	-158 C>T (XmnI, rs7482144)	N/A	NG_000007.3:g.42677C>T	Gγ	Modifier	Hb F levels, Pain, Hb F response to hydroxyurea, F-cell numbers, Anaemia, Severity	NG_000007.3	42677
3790	-125 C>T	N/A	HBG2:c.-177C>T	Gγ	Causative	HPFH	NG_000007.3	42710
1559	-114 C>G (Australian non-deletional HPFH)	N/A	HBG2:c.-167C>G	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42721
1560	-114 C>A (Algerian non-deletional HPFH)	N/A	HBG2:c.-167C>A	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42721
1561	-114 C>T (Japanese non-deletional HPFH)	N/A	HBG2:c.-167C>T	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42721
1562	-110 A>C (Czech non-deletional HPFH)	N/A	HBG2:c.-163A>C	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42725
1563	-109 G>T (Greek non-deletional HPFH)	N/A	HBG2:c.-162A>C	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42726
1564	-37 A>T (Belgian non-deletional HPFH)	N/A	HBG2:c.-90A>T	Gγ	Causative	HPFH, Hb F levels	NG_000007.3	42798
3162	rs1894397	N/A	NG_000007.3:g.42859G>A	Gγ	Modifier	Hb F levels	NG_000007.3	42859
2449	CD 1 GGT>AGT [Gly>Ser]	Hb F-Montchat	HBG2:c.4G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42891
1406	CD 1 GGT>TGT	Hb F-Malaysia	HBG2:c.4G>T	Gγ	Causative	γ-chain variant	NG_000007.3	42891
3319	CD 1 GGT>GAT [Gly>Asp]	Hb F-Hayward	HBG2:c.5G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42892
1407	CD 5 GAG>GGG	Hb F-Meinohama	HBG2:c.17A>G	Gγ	Causative	γ-chain variant	NG_000007.3	42904
1409	CD 7 GAC>AAC	Hb F-Auckland	HBG2:c.22G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42909
1410	CD 8 AAG>CAG or GAG	Hb F-Albaicin	HBG2:c.25A>C \| HBG2:c.25A>G	Gγ	Causative	γ-chain variant	NG_000007.3	42912
1412	CD 12 ACA>AGA [Thr>Arg]	Hb F-Heather	HBG2:c.38C>G	Gγ	Causative	γ-chain variant	NG_000007.3	42925
3804	CD 13 AGC>AGA [Ser>Arg]	Hb F-Millennium Park	HBG2:c.42C>A	Gγ	Causative	γ-chain variant	NG_000007.3	42929
1413	CD 15 TGG>CGG	Hb F-Catalonia	HBG2:c.46T>C	Gγ	Causative	γ-chain variant	NG_000007.3	42933
1414	CD 16 GGC>CGC	Hb F-Melbourne	HBG2:c.49G>C	Gγ	Causative	γ-chain variant	NG_000007.3	42936
1415	CD 17 AAG>AAC or AAT	Hb F-Clamart	HBG2:c.54G>C \| HBG2:c.54G>T	Gγ	Causative	γ-chain variant	NG_000007.3	42941
1416	CD 19 AAT>AAA or AAG	Hb F-Ouled Rabah	HBG2:c.60T>A \| HBG2:c.60T>G	Gγ	Causative	γ-chain variant	NG_000007.3	42947
1417	CD 20 GTG>GCG	Hb F-Bron	HBG2:c.62T>C	Gγ	Causative	γ-chain variant	NG_000007.3	42949
1418	CD 21 GAA>AAA	Hb F-Saskatoon	HBG2:c.64G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42951
1419	CD 21 GAA>CAA	Hb F-Fuchu	HBG2:c.64G>C	Gγ	Causative	γ-chain variant	NG_000007.3	42951
4099	CD 22 GAT>CAT [Asp>His]	Hb F-Nancy	HBG2:c.67G>C	Gγ	Causative	γ-chain variant	NG_000007.3	42954
1420	CD 22 GAT>GTT	Hb F-Granada	HBG2:c.68A>T	Gγ	Causative	γ-chain variant	NG_000007.3	42955
1421	CD 22 GAT>GGT	Hb F-Urumqi	HBG2:c.68A>G	Gγ	Causative	γ-chain variant	NG_000007.3	42955
3566	CD 24 GGA>GAA [Gly>Glu]	Hb F-Wentzville	HBG2:c.74G>A	Gγ	Causative	γ-chain variant, Haemolytic anaemia	NG_000007.3	42961
1422	CD 25 GGA>GAA	Hb F-Cosenza	HBG2:c.77G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42964
1423	CD 26 GAA>AAA	Hb F-Oakland	HBG2:c.79G>A	Gγ	Causative	γ-chain variant	NG_000007.3	42966
3322	CD 28 CTG>ATG [Leu>Met]	Hb F-M Viseu	HBG2:c.85C>A	Gγ	Causative	γ-chain variant	NG_000007.3	42972
1424	CD 34 GTC>ATC	Hb F-Tokyo	HBG2:c.103G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43112
2428	CD 37 TGG>GGG [Trp>Gly]	Hb F-Cobb II	HBG2:c.112T>G	Gγ	Causative	γ-chain variant	NG_000007.3	43121
1425	CD 38 ACC>CCC	Hb F-Bonheiden	HBG2:c.115A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43124
1426	CD 40 AGG>GGG	Hb F-Veleta	HBG2:c.121A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43130
1427	CD 40 AGG>AAG	Hb F-Austell	HBG2:c.122G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43131
2427	CD 41 TTC>CTC [Phe>Leu]	Hb F-Avellino	HBG2:c.124T>C	Gγ	Causative	γ-chain variant, Hb F levels	NG_000007.3	43133
1428	CD 41 TTC>TCC	Hb F-Cincinnati	HBG2:c.125T>C	Gγ	Causative	γ-chain variant	NG_000007.3	43134
1429	CD 44 AGC>CGC	Hb F-Lodz	HBG2:c.133A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43142
3608	CD 50 (TCT>TGT);CD 75(ATA>ACA)	Hb F-Madrid	HBG2:c.[152C>G;227T>C]	Gγ	Causative	γ-chain variant	NG_000007.3	43161
1430	CD 55 ATG>AGG	Hb F-Kingston	HBG2:c.167T>G	Gγ	Causative	γ-chain variant	NG_000007.3	43176
1431	CD 59 AAA>CAA	Hb F-Sacromonte	HBG2:c.178A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43187
1432	CD 59 AAA>GAA	Hb F-Emirates	HBG2:c.178A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43187
2552	CD 59 AAA>AGA [Lys>Arg]	Hb F-Augusta GA	HBG2:c.179A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43188
1433	CD 63 CAT>TAT	Hb F-M-Osaka	HBG2:c.190C>T	Gγ	Causative	γ-chain variant	NG_000007.3	43199
3369	CD 63 CAT>CTT [His>Leu]	Hb F-Circleville	HBG2:c.191A>T	Gγ	Causative	γ-chain variant	NG_000007.3	43200
2471	CD 64 GGC>GAC [Gly>Asp]	Hb F-Turritana	HBG2:c.194G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43203
1434	CD 65 AAG>AAT or AAC	Hb F-Clarke	HBG2:c.198G>C \| HBG2:c.198G>T	Gγ	Causative	γ-chain variant	NG_000007.3	43207
1435	CD 66 AAG>CAG	Hb F-Brooklyn	HBG2:c.199A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43208
1436	CD 66 AAG>AGG	Hb F-Shanghai	HBG2:c.200A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43209
2435	CD 67 GTG>ATG [Val>Met] (Hb F-Heuried)	Hb Toms River	HBG2:c.202G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43211
1437	CD 72 GGA>CGA	Hb F-Minoo	HBG2:c.217G>C	Gγ	Causative	γ-chain variant	NG_000007.3	43226
1438	CD 73 GAT>GCT	Hb F-Joanopolis	HBG2:c.221A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43230
1439	CD 75 ATA>GTA	Hb F-Coigneres	HBG2:c.226A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43235
1440	CD 75 ATA>ACA	Hb F-Lesvos	HBG2:c.227T>C	Gγ	Causative	γ-chain variant	NG_000007.3	43236
1441	CD 77 CAC>CGC	Hb F-Kennestone	HBG2:c.233A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43242
1442	CD 79 GAT>CAT [Asp>His]	Hb F-Saint-Etienne	HBG2:c.238G>C	Gγ	Causative	γ-chain variant	NG_000007.3	43247
3803	CD 79 GAT>GGT [Asp>Gly]	Hb F-Northerly Island	HBG2:c.239A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43248
1443	CD 80 GAT>AAT	Hb F-Marietta	HBG2:c.241G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43250
1444	CD 80 GAT>TAT [Asp>Tyr]	Hb F-Paulinia	HBG2:c.241G>T	Gγ	Causative	γ-chain variant	NG_000007.3	43250
3389	CD 89 AGT>AAT [Ser>Asn]	Hb F-Careggi	HBG2:c.269G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43278
1445	CD 92 CAC>TAC	Hb F-M-Fort Ripley	HBG2:c.277C>T	Gγ	Causative	γ-chain variant	NG_000007.3	43286
2395	CD 93 TGT>CGT [Cys>Arg]	Hb F-Monserrato-Sassari	HBG2:c.280T>C	Gγ	Causative	γ-chain variant	NG_000007.3	43289
1446	CD 94 GAC>AAC	Hb F-Columbus-GA	HBG2:c.283G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43292
1447	CD 97 CAT>CGT [His>Arg]	Hb F-Lyon	HBG2:c.293A>G	Gγ	Causative	γ-chain variant	NG_000007.3	43302
1448	CD 101 GAG>CAG [Glu>Gln]	Hb F-Zheijang	HBG2:c.304G>C	Gγ	Causative	γ-chain variant	NG_000007.3	43313
1449	CD 101 GAG>AAG	Hb F-La Grange	HBG2:c.304G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43313
1450	CD 102 AAC>ACC [Asn>Thr]	Hb F-Sarajevo	HBG2:c.308A>C	Gγ	Causative	γ-chain variant	NG_000007.3	43317
1451	CD 104 AAG>AAC	Hb F-Macedonia-II	HBG2:c.315G>C	Gγ	Causative	γ-chain variant	NG_000007.3	43324
2459	CD 105 CTC>CAC [Leu>His]	Hb F-Brugine/Feldkirch	HBG2:c.317T>A	Gγ	Causative	γ-chain variant	NG_000007.3	43326
3815	rs2070973	N/A	NG_000007.3:g.43439A>G	Gγ	Modifier	Severity	NG_000007.3	43439
3161	rs11036475	N/A	NG_000007.3:g.43606C>T	Gγ	Modifier	Hb F levels	NG_000007.3	43606
3160	rs11036474	N/A	NG_000007.3:g.43668A>G	Gγ	Modifier	Hb F levels	NG_000007.3	43668
2804	rs2070972	N/A	NG_000007.3:g.44129T>G	Gγ	Modifier	Hb F levels, Severity	NG_000007.3	44129
1452	CD 108 AAT>AAA [Asn>Lys]	Hb F-Ube	HBG1:c.327T>A \| HBG2:c.327T>A	Aγ or Gγ	Causative	γ-chain variant	NG_000007.3	44222, 49140
1453	CD 117 CAT>CGT	Hb F-Malta-I	HBG2:c.353A>G	Gγ	Causative	γ-chain variant	NG_000007.3	44248
1454	CD 118 TTC>CTC	Hb F-Calabria	HBG2:c.355T>C	Gγ	Causative	γ-chain variant	NG_000007.3	44250
3891	CD 119 GGC>CGC [Gly>Arg]	Hb F-Pill Hill	HBG2:c.358G>C	Gγ	Causative	γ-chain variant	NG_000007.3	44253
1455	CD 120 AAA>CAA	Hb F-Caltech	HBG2:c.361A>C	Gγ	Causative	γ-chain variant	NG_000007.3	44256
1456	CD 121 GAA>AAA	Hb F-Carlton	HBG2:c.364G>A	Gγ	Causative	γ-chain variant	NG_000007.3	44259
1457	CD 125 GAG>GCG	Hb F-Port Royal	HBG2:c.377A>C	Gγ	Causative	γ-chain variant	NG_000007.3	44272
1458	CD 130 TGG>GGG	Hb F-Poole	HBG2:c.391T>G	Gγ	Causative	γ-chain variant	NG_000007.3	44286
2450	CD 136 GGA>GAA [Gly>Glu]	Hb F-Privas	HBG2:c.410G>A	Gγ	Causative	γ-chain variant	NG_000007.3	44305
3950	CD 140 GCC>GAC [Ala>Asp]	Hb F-Wyandotte	HBG2:c.422C>A	Gγ	Causative	γ-chain variant	NG_000007.3	44317
1459	CD 146 CAC>TAC	Hb F-Onoda	HBG2:c.439C>T	Gγ	Causative	γ-chain variant	NG_000007.3	44334
2394	CD 146 CAC>CGC [His>Arg]	Hb F-Istambul	HBG2:c.440A>G	Gγ	Causative	γ-chain variant	NG_000007.3	44335
3813	rs2236794	N/A	NG_000007.3:g.44579G>A	Gγ	Modifier	Severity	NG_000007.3	44579
2803	rs2855125	N/A	NG_000007.3:g.45159A>C	HBG1-HBG2	Modifier	Hb F levels, Severity	NG_000007.3	45159
3105	rs2255519	N/A	NG_000007.3:g.45305C>T	Gγ	Modifier	Hb F levels	NG_000007.3	45305
2802	rs2855126	N/A	NG_000007.3:g.45699G>C	HBG1-HBG2	Modifier	Hb F levels, Hyperuricemia, Severity	NG_000007.3	45699
3812	rs2855036	N/A	NG_000007.3:g.46164G>A	Aγ	Modifier	Severity	NG_000007.3	46164
2801	rs2855038	N/A	NG_000007.3:g.46692A>G	Aγ	Modifier	Hb F levels, Severity	NG_000007.3	46692
3104	rs2855039	N/A	NG_000007.3:g.47175G>A	Aγ	Modifier	Hb F levels	NG_000007.3	47175
3920	-368 C>A	N/A	HBG1:c.-420C>A	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47391
3887	-365 G>C	N/A	HBG1:c.-417G>C	Aγ	Neutral	N/A	NG_000007.3	47394
4074	-352 A>G	N/A	HBG1:c.-404A>G	Aγ	Neutral	N/A	NG_000007.3	47407
1565	-211 C>T (Venezuelan non-deletional HPFH)	N/A	HBG1:c.-264C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47548
1566	-202 C>T (Black non-deletional HPFH)	N/A	HBG1:c.-255C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47557
1567	-201 C>T (Greek non-deletional HPFH)	N/A	HBG1:c.-254C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47558
1568	-198 T>C (British non-deletional HPFH)	N/A	HBG1:c.-251T>C	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47561
2301	-197 C>T	N/A	HBG1:c.-250C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47562
1569	-196 C>T (Italian/Chinese non-deletional HPFH)	N/A	HBG1:c.-249C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47563
1570	-195 C>G (Brazilian non-deletional HPFH)	N/A	HBG1:c.-248C>G	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47564
1571	-175 T>C (Black non-deletional HPFH)	N/A	HBG1:c.-228T>C	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47584
1572	-158 C>T (Cretan non-deletional HPFH)	N/A	HBG1:c.-211C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47601
1573	-117 G>A (Greek/Italian/Black non-deletional HPFH)	N/A	HBG1:c.-170G>A	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47642
1574	-114 to -102 (13 bp deletion , Black non-deletional HPFH)	N/A	HBG1:c.-167_-155delCAATAGCCTTGAC	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47645
1575	-114 C>T (Georgian non-deletional HPFH)	N/A	HBG1:c.-167C>T	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47645
3025	-114 C>G (African-American/Hispanic non-deletional HPFH)	N/A	HBG1:c.-167C>G	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47645
2302	-113 A>G	N/A	HBG1:c.-166A>G	Aγ	Causative	HPFH, Hb F levels	NG_000007.3	47646
2945	rs368698783 (Aγ(+25 G>A))	N/A	NG_000007.3:g.47783G>A	Aγ	Modifier	Hb F levels	NG_000007.3	47783
1460	CD 2 CAT>CAG	Hb F-Macedonia-I	HBG1:c.9T>G	Aγ	Causative	γ-chain variant	NG_000007.3	47820
1461	CD 5 GAG>AAG	Hb F-Texas-I	HBG1:c.16G>A	Aγ	Causative	γ-chain variant	NG_000007.3	47827
1408	CD 6 GAG>AAG	Hb F-Texas-II	HBG1:c.19G>A \| HBG2:c.19G>A	Aγ or Gγ	Causative	γ-chain variant	NG_000007.3	47830
1462	CD 6 GAG>CAG	Hb F-Pordenone	HBG1:c.19G>C	Aγ	Causative	γ-chain variant	NG_000007.3	47830
1463	CD 6 GAG>GGG	Hb F-Kotobuki	HBG1:c.20A>G	Aγ	Causative	γ-chain variant	NG_000007.3	47831
1411	CD 12 ACA>AAA [Thr>Lys]	Hb F-Alexandra	HBG1:c.38C>A \| HBG2:c.38C>A	Aγ or Gγ	Causative	γ-chain variant	NG_000007.3	47849
1464	CD 12 ACA>AGA	Hb F-Calluna	HBG1:c.38C>G	Aγ	Causative	γ-chain variant	NG_000007.3	47849
3320	CD 16 GGC>GAC [Gly>Asp]	Hb F-Chori-I	HBG1:c.50G>A	Aγ	Causative	γ-chain variant	NG_000007.3	47861
1465	CD 22 GAT>AAT [Asp>Asn]	Hb F-Beni Khirane	HBG1:c.67G>A	Aγ	Causative	γ-chain variant	NG_000007.3	47878
1466	CD 22 GAT>GGT	Hb F-Kuala Lumpur	HBG1:c.68A>G	Aγ	Causative	γ-chain variant	NG_000007.3	47879
1468	CD 25 GGA>CGA	Hb F-Xinjiang	HBG1:c.76G>C	Aγ	Causative	γ-chain variant	NG_000007.3	47887
3321	CD 29 GGA>GAA [Gly>Glu]	Hb F-Chori-II	HBG1:c.89G>A	Aγ	Causative	γ-chain variant	NG_000007.3	47900
1469	CD 36 CCA>CGA	Hb F-Pendergrass	HBG1:c.110C>G	Aγ	Causative	γ-chain variant	NG_000007.3	48043
1470	CD 37 TGG>GGG	Hb F-Cobb	HBG1:c.112T>G	Aγ	Causative	γ-chain variant	NG_000007.3	48045
1471	CD 39 CAG>CGG	Hb F-Bonaire-GA	HBG1:c.119A>G	Aγ	Causative	γ-chain variant	NG_000007.3	48052
1472	CD 40 AGG>AAG	Hb F-Woodstock	HBG1:c.122G>A	Aγ	Causative	γ-chain variant	NG_000007.3	48055
1473	CD 43 GAC>AAC	Hb F-Fukuyama	HBG1:c.130G>A	Aγ	Causative	γ-chain variant	NG_000007.3	48063
1474	CD 53 GCC>GAC	Hb F-Beech Island	HBG1:c.161C>A	Aγ	Causative	γ-chain variant	NG_000007.3	48094
1475	CD 61 AAG>GAG	Hb F-Jamaica	HBG1:c.184A>G	Aγ	Causative	γ-chain variant	NG_000007.3	48117
3917	CD 67 GTG>ATG [Val>Met]	Hb Toms River	HBG1:c.202G>A	Aγ	Causative	γ-chain variant	NG_000007.3	48135
1476	CD 72 GGA>CGA	Hb F-Iwata	HBG1:c.217G>C	Aγ	Causative	γ-chain variant	NG_000007.3	48150
1477	CD 73 GAT>CAT	Hb F-Xin-Su	HBG1:c.220G>C	Aγ	Causative	γ-chain variant	NG_000007.3	48153
1478	CD 73 GAT>AAT	Hb F-Forest Park	HBG1:c.220G>A	Aγ	Causative	γ-chain variant	NG_000007.3	48153
1479	CD 75 ATA>ACA	Hb F-Sardinia (AgammaT)	HBG1:c.227T>C	Aγ	Causative	γ-chain variant	NG_000007.3	48160
1480	CD 79 GAT>AAT	Hb F-Dammam	HBG1:c.238G>A	Aγ	Causative	γ-chain variant	NG_000007.3	48171
1481	CD 80 GAT>AAT	Hb F-Yamaguchi	HBG1:c.241G>A	Aγ	Causative	γ-chain variant	NG_000007.3	48174
1482	CD 80 GAT>TAT [Asp>Tyr]	Hb F-Victoria Jubilee	HBG1:c.241G>T	Aγ	Causative	γ-chain variant	NG_000007.3	48174
2415	CD 91 CTG>CGG [Leu>Arg]	Hb F-Moyen-Orient	HBG1:c.275T>G	Aγ	Causative	γ-chain variant	NG_000007.3	48208
1483	CD 97 CAT>CGT	Hb F-Dickinson	HBG1:c.293A>G	Aγ	Causative	γ-chain variant	NG_000007.3	48226
3158	rs11036455	N/A	NG_000007.3:g.48428T>C	Aγ	Modifier	Hb F levels	NG_000007.3	48428
3814	rs2187608	N/A	NG_000007.3:g.48915C>G	Aγ	Modifier	Severity	NG_000007.3	48915
3574	rs28440105	N/A	NG_000007.3:g.49047T>G \| NG_000007.3:g.49047T>A	Aγ	Neutral	N/A	NG_000007.3	49047
2556	CD 113 GTT>ATT [Val>Ile]	Hb F-Sykesville MD	HBG1:c.340G>A	Aγ	Causative	γ-chain variant	NG_000007.3	49153
1484	CD 119 GGC>AGC [Gly>Ser]	Hb F-Osilo	HBG1:c.358G>A	Aγ	Causative	γ-chain variant	NG_000007.3	49171
1485	CD 121 GAA>AAA [Glu>Lys] (Hb F-Siena)	Hb F-Hull	HBG1:c.364G>A	Aγ	Causative	γ-chain variant	NG_000007.3	49177
1487	CD 121 GAA>CAA	Hb F-Campinas	HBG1:c.364G>C	Aγ	Causative	γ-chain variant	NG_000007.3	49177
2396	CD 121 GAA>GTA [Glu>Val]	Hb F-Salamanque	HBG1:c.365A>T	Aγ	Causative	γ-chain variant	NG_000007.3	49178
2453	CD 125 GAG>GCG [Glu>Ala]	Hb F-Port Royal II	HBG1:c.377A>C	Aγ	Causative	γ-chain variant	NG_000007.3	49190
1488	CD 128 GCT>ACT	Hb F-Baskent	HBG1:c.385G>A	Aγ	Causative	γ-chain variant	NG_000007.3	49198
1489	CD 131 CAG>CAT [Gln>His]	Hb F-Oman	HBG1:c.396G>T	Aγ	Causative	γ-chain variant	NG_000007.3	49209
1490	CD 134 GTG>ATG	Hb F-Jiangsu	HBG1:c.403G>A	Aγ	Causative	γ-chain variant	NG_000007.3	49216
1491	CD 136 GCA>TCA	Hb F-Porto Torres	HBG1:c.409G>T	Aγ	Causative	γ-chain variant	NG_000007.3	49222
1492	CD 136 GCA>GGA	Hb F-Charlotte	HBG1:c.410C>G	Aγ	Causative	γ-chain variant	NG_000007.3	49223
3892	CD 139 AGT>AGG [Ser>Arg]	Hb F-Streeterville	HBG1:c.420T>G	Aγ	Causative	γ-chain variant	NG_000007.3	49233
3159	rs201642811	N/A	NG_000007.3:g.49274T>G	Aγ	Modifier	Hb F levels	NG_000007.3	49274
2800	rs916111	N/A	NG_000007.3:g.49503A>T	Aγ	Modifier	Hb F levels, Severity	NG_000007.3	49503
3103	rs10488676	N/A	NG_000007.3:g.50049C>T	Aγ	Modifier	Hb F levels	NG_000007.3	50049
3845	rs7924684	N/A	NG_000007.3:g.52118G>A	BGLT3	Modifier	Hb F levels	NG_000007.3	52118
3811	rs11036431	N/A	NG_000007.3:g.53166C>T	pseudo β	Modifier	Severity	NG_000007.3	53166
2815	rs2071348	N/A	NG_000007.3:g.54700A>C	pseudo β	Modifier	Hb F levels, Severity	NG_000007.3	54700
2827	rs16912210	N/A	NG_000007.3:g.54993T>C	pseudo β	Modifier	Hb F levels	NG_000007.3	54993
2128	rs10128556	N/A	NG_000007.3:g.55163G>A	pseudo β	Modifier	HPFH, Hb F levels, Severity	NG_000007.3	55163
2870	rs968856	N/A	NG_000007.3:g.58270A>G	HBD-HBBP1	Modifier	Hb F levels	NG_000007.3	58270
3575	rs968857	N/A	NG_000007.3:g.58388A>T \| NG_000007.3:g.58388A>G	HBD-HBBP1	Neutral	N/A	NG_000007.3	58388
2811	rs2105819	N/A	NG_000007.3:g.59119C>G	HBD-HBBP1	Modifier	Hb F levels, Severity	NG_000007.3	59119
2828	rs4910736	N/A	NG_000007.3:g.59857G>T	HBD-HBBP1	Modifier	Hb F levels	NG_000007.3	59857
2810	rs4910543	N/A	NG_000007.3:g.60019C>G	HBD-HBBP1	Modifier	Hb F levels, Severity	NG_000007.3	60019
2809	rs4402323	N/A	NG_000007.3:g.60254G>A	HBD-HBBP1	Modifier	Hb F levels, Severity	NG_000007.3	60254
2871	rs4283007	N/A	NG_000007.3:g.60356T>A	HBD-HBBP1	Modifier	Hb F levels	NG_000007.3	60356
2808	rs4320977	N/A	NG_000007.3:g.60684T>C	HBD-HBBP1	Modifier	Hb F levels, Severity	NG_000007.3	60684
2807	rs10837643	N/A	NG_000007.3:g.60808A>T	HBD-HBBP1	Modifier	Hb F levels, Severity	NG_000007.3	60808
2806	rs3759074	N/A	NG_000007.3:g.61068C>T	δ	Modifier	Hb F levels, Severity	NG_000007.3	61068
2799	rs3813727	N/A	NG_000007.3:g.62934T>C	δ	Modifier	Hb F levels, Severity	NG_000007.3	62934
3601	-130 A>G	N/A	HBD:c.-180A>G	δ	Causative	δ-thalassaemia	NG_000007.3	63003
3223	CAP +48 (A>T)	N/A	HBD:c.-6A>T	δ	Causative	δ-thalassaemia	NG_000007.3	63019
2202	CAP +53 (G>A)	N/A	HBD:c.-1G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63024
1321	-80 (G>A)	N/A	HBD:c.-130G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63053
1322	-77 T>C	N/A	HBD:c.-127T>C	δ	Causative	δ-thalassaemia	NG_000007.3	63056
1323	-76 (A>T)	N/A	HBD:c.-126A>T	δ	Causative	δ-thalassaemia	NG_000007.3	63057
1324	-68 (C>T)	N/A	HBD:c.-118C>T	δ	Causative	δ-thalassaemia	NG_000007.3	63065
1325	-65 (A>G)	N/A	HBD:c.-115A>G	δ	Causative	δ-thalassaemia	NG_000007.3	63068
1326	-55 (T>C)	N/A	HBD:c.-105T>C	δ	Causative	δ-thalassaemia	NG_000007.3	63078
3602	-44 G>A	N/A	HBD:c.-94G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63089
1327	-36 (C>A)	N/A	HBD:c.-86C>A	δ	Causative	δ-thalassaemia	NG_000007.3	63097
1328	-31 (A>G)	N/A	HBD:c.-81A>G	δ	Causative	δ-thalassaemia	NG_000007.3	63102
1329	-30 T>C	N/A	HBD:c.-80T>C	δ	Causative	δ-thalassaemia	NG_000007.3	63103
1330	Init CD ATG>ATA [Met>Ile]	N/A	HBD:c.3G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63185
1347	CD 1 GTG>GCG	Hb A2-Niigata	HBD:c.5T>C	δ	Causative	δ-chain variant	NG_000007.3	63187
2328	CD 2 CAT>AAT [His>Asn]	Hb A2-Calderdale	HBD:c.7C>A	δ	Causative	δ-chain variant	NG_000007.3	63189
1348	CD 2 CAT>CTT	Hb A2-Catania	HBD:c.8A>T	δ	Causative	δ-chain variant	NG_000007.3	63190
1349	CD 2 CAT>CGT	Hb A2-Sphakiá	HBD:c.8A>G	δ	Causative	δ-chain variant	NG_000007.3	63190
3366	CD 3 CTG>CCG [Leu>Pro]	Hb A2-Sile	HBD:c.11T>C	δ	Causative	δ-chain variant	NG_000007.3	63193
1331	CD 4 ACT>ATT [Thr>Ile] (HbA2-Mitsero)	N/A	HBD:c.14C>T	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63196
1350	CD 4 ACT>AGT [Thr>Ser]	Hb A2-Acacias	HBD:c.14C>G	δ	Causative	δ-chain variant	NG_000007.3	63196
3617	CD 5 CCT>ACT [Pro>Thr]	Hb A2-Partinico	HBD:c.16C>A	δ	Causative	δ-thalassaemia	NG_000007.3	63198
3336	CD 7 GAG>TAG [Glu>STOP]	N/A	HBD:c.22G>T	δ	Causative	δ-thalassaemia	NG_000007.3	63204
4035	CD 7 GAG>AAG [Glu>Lys]	Hb A2-Zhengzhou	HBD:c.22G>A	δ	Causative	δ-chain variant	NG_000007.3	63204
1351	CD 7 GAG>GCG [Glu>Ala]	Hb A2-Udine	HBD:c.23A>C	δ	Causative	δ-chain variant	NG_000007.3	63205
2325	CD 7 GAG>GAC [Glu>Asp]	Hb A2-Pordenone	HBD:c.24G>C	δ	Causative	δ-chain variant	NG_000007.3	63206
1352	CD 8 AAG>GAG [Lys>Glu]	Hb A2-Toranomon	HBD:c.25A>G	δ	Causative	δ-chain variant	NG_000007.3	63207
4030	CD 8 AAG>AAC [Lys>Asn]	Hb A2-Hengyang	HBD:c.27G>C	δ	Causative	δ-chain variant	NG_000007.3	63209
3243	CD 10 GCT>CCT [Ala>Pro]	Hb A2-Guangzhou	HBD:c.31G>C	δ	Causative	δ-chain variant	NG_000007.3	63213
3496	CD 10 GCT>GTT [Ala>Val]	Hb A2-Canakkale	HBD:c.32C>T	δ	Causative	δ-chain variant	NG_000007.3	63214
1353	CD 11 GTC>GGC	Hb A2-Pylos	HBD:c.35T>G	δ	Causative	δ-chain variant	NG_000007.3	63217
2299	CD 12 AAT>ACT (Asn>Thr)	Hb A2-Rotterdam	HBD:c.38A>C	δ	Causative	δ-chain variant	NG_000007.3	63220
1354	CD 12 AAT>AAA [Asn>Lys]	Hb A2-NYU	HBD:c.39T>A	δ	Causative	δ-chain variant	NG_000007.3	63221
1355	CD 13 GCC>GAC [Ala>Asp] (Hb A2-Corleone)	Hb A2-MUMC	HBD:c.41C>A	δ	Causative	δ-chain variant	NG_000007.3	63223
2448	CD 14 CTG>CCG [Leu>Pro]	Hb A2-Saint-Etienne	HBD:c.44T>C	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63226
3628	CD 15 TGG>CGG [Trp>Arg]	Hb A2-Utah	HBD:c.46T>C	δ	Causative	δ-chain variant	NG_000007.3	63228
3372	CD 15 TGG>TTG [Trp>Leu]	Hb A2-Stockholm	HBD:c.47G>T	δ	Causative	δ-chain variant	NG_000007.3	63229
1356	CD 16 GGC>CGC	Hb A2' or Hb B2	HBD:c.49G>C	δ	Causative	δ-chain variant	NG_000007.3	63231
4097	CD 17 AAA>CAA [Lys>Gln]	Hb A2-Laibin	HBD:c.52A>C	δ	Causative	δ-thalassaemia	NG_000007.3	63234
3242	CD 17 AAA>ACA [Lys>Thr]	Hb A2-Qingyuan	HBD:c.53A>C	δ	Causative	δ-chain variant	NG_000007.3	63235
4039	CD 18 GTG>GGG [Val>Gly]	Hb A2-Siping	HBD:c.56T>G	δ	Causative	δ-chain variant	NG_000007.3	63238
2292	CD 19 AAC>AAA [Asn>Lys]	Hb Famagusta	HBD:c.60C>A	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63242
1357	CD 20 GTG>GAG	Hb A2-Roosevelt	HBD:c.62T>A	δ	Causative	δ-chain variant	NG_000007.3	63244
3241	CD 21 GAT>GGT [Asp>Gly]	Hb A2-Dongguan	HBD:c.65A>G	δ	Causative	δ-chain variant	NG_000007.3	63247
2447	CD 22 GCA>ACA>AAA [Ala>Lys]	Hb A2-Marseille	HBD:c.[67G>A; 68C>A]	δ	Causative	δ-chain variant	NG_000007.3	63249
1358	CD 22 GCA>GAA [Ala>Glu]	Hb A2-Flatbush	HBD:c.68C>A	δ	Causative	δ-chain variant	NG_000007.3	63250
1359	CD 24 GGT>GAT	Hb A2-Victoria	HBD:c.74G>A	δ	Causative	δ-chain variant	NG_000007.3	63256
1360	CD 25 GGT>GAT	Hb A2-Yokoshima	HBD:c.77G>A	δ	Causative	δ-chain variant	NG_000007.3	63259
1361	CD 26 GAG>GAC	Hb A2-Puglia	HBD:c.81G>C	δ	Causative	δ-chain variant	NG_000007.3	63263
1332	CD 27 GCC>TCC [Ala>Ser]	Hb A2-Yialousa	HBD:c.82G>T	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63264
3187	rs35152987	N/A	NG_000007.3:g.63264G>T	δ	Modifier	Anaemia	NG_000007.3	63264
3240	CD 28 CTG>CCG [Leu>Pro]	Hb A2-Hunan	HBD:c.86T>C	δ	Causative	δ-chain variant	NG_000007.3	63268
2437	CD 29 GGC>GAC [Gly>Asp]	Hb A2-Hong Kong	HBD:c.89G>A	δ	Causative	δ-chain variant	NG_000007.3	63271
3960	CD 29 GGC>GGT [Gly>Gly]	N/A	HBD:c.90C>T	δ	Causative	δ-thalassaemia	NG_000007.3	63272
1333	CD 30 (AGG>ACG)	N/A	HBD:c.92G>C	δ	Causative	δ-thalassaemia	NG_000007.3	63274
3883	IVS I-1 G>C	N/A	HBD:c.92+1G>C	δ	Causative	δ-thalassaemia	NG_000007.3	63275
1334	IVS I-2 (T>C)	N/A	HBD:c.92+2T>C	δ	Causative	δ-thalassaemia	NG_000007.3	63276
2090	IVS I-5 G>T	N/A	HBD:c.92+5G>T	δ	Causative	δ-thalassaemia	NG_000007.3	63279
1335	IVS I-128 G>C (IVS I 3' AG>AC)	N/A	HBD:c.93-1G>C	δ	Causative	δ-thalassaemia	NG_000007.3	63402
1363	CD 36 CCT>CAT	Hb A2-Metaponto	HBD:c.110C>A	δ	Causative	δ-chain variant	NG_000007.3	63420
3387	CD 36 CCT>CGT [Pro>Arg]	Hb A2-Sanremo	HBD:c.110C>G	δ	Causative	δ-chain variant	NG_000007.3	63420
1336	CD 37 (TGG>TAG)	N/A	HBD:c.113G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63423
4029	CD 39 CAG>AAG [Gln>Lys]	Hb A2-Chengdu	HBD:c.118C>A	δ	Causative	δ-chain variant	NG_000007.3	63428
2320	CD 39 CAG>CAC [Gln>His]	Hb A2-Lyon	HBD:c.120G>C	δ	Causative	δ-chain variant	NG_000007.3	63430
4037	CD 40 AGG>AGT [Arg>Ser]	Hb A2-Wuhan	HBD:c.123G>T	δ	Causative	δ-chain variant	NG_000007.3	63433
3239	CD 42 TTT>CTT [Phe>Leu]	Hb A2-Huadu	HBD:c.127T>C	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63437
1364	CD 43 GAG>AAG	Hb A2-Melbourne	HBD:c.130G>A	δ	Causative	δ-chain variant	NG_000007.3	63440
1365	CD 43 GAG>GGG	Hb A2-Agrinio	HBD:c.131A>G	δ	Causative	δ-chain variant	NG_000007.3	63441
3238	CD 44 TCC>TGC [Ser>Cys]	Hb A2-Conghua	HBD:c.134C>G	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63444
4026	CD 46 GGG>CGG [Gly>Arg], IVS II-456 A>G	Hb A2-Malay	HBD:c.[139G>C;316-443A>G]	δ	Causative	δ-thalassaemia	NG_000007.3	63449, 64081
4069	CD 46 GGG>AGG [Gly>Arg]	Hb A2-Yulin	HBD:c.139G>A	δ	Causative	δ-chain variant	NG_000007.3	63449
2425	CD 46 GGG>GAG [Gly>Glu]	Hb A2-Tunis	HBD:c.140G>A	δ	Causative	δ-chain variant	NG_000007.3	63450
3317	CD 47 GAT>AAT [Asp>Asn]	Hb A2-Lampang	HBD:c.142G>A	δ	Causative	δ-chain variant	NG_000007.3	63452
1366	CD 47 GAT>GTT	Hb A2-Parkville	HBD:c.143A>T	δ	Causative	δ-chain variant	NG_000007.3	63453
2426	CD 50 TCT>ACT [Ser>Thr]	Hb A2-Konz	HBD:c.151T>A	δ	Causative	δ-chain variant	NG_000007.3	63461
1367	CD 51 CCT>CGT	Hb A2-Adria	HBD:c.155C>G	δ	Causative	δ-chain variant	NG_000007.3	63465
2329	CD 52 GAT>CAT [Asp>His]	Hb A2-Walsgrave	HBD:c.157G>C	δ	Causative	δ-chain variant	NG_000007.3	63467
3316	CD 53 GCT>CCT [Ala>Pro]	Hb A2-Edirne	HBD:c.160G>C	δ	Causative	δ-chain variant	NG_000007.3	63470
3315	CD 56 GGC>GAC [Gly>Asp]	Hb A2-Shah Alam	HBD:c.170G>A	δ	Causative	δ-chain variant	NG_000007.3	63480
1368	CD 57 AAC>AAA	Hb A2-Campania	HBD:c.174C>A	δ	Causative	δ-chain variant	NG_000007.3	63484
1369	CD 59 AAG>ATG [Lys>Met]	Hb A2-North Africa	HBD:c.179A>T	δ	Causative	δ-chain variant	NG_000007.3	63489
1370	CD 59 AAG>AAC	Hb A2-Pasteur-Tunis	HBD:c.180G>C	δ	Causative	δ-chain variant	NG_000007.3	63490
3870	CD 62 GCT>CCT [Ala>Pro]	N/A	HBD:c.187G>C	δ	Causative	δ-thalassaemia	NG_000007.3	63497
1371	CD 64 GGC>AGC (Gly>Ser) (Hb A2-Venlo)	Hb A2-Fogo	HBD:c.193G>A	δ	Causative	δ-chain variant	NG_000007.3	63503
4036	CD 65 AAG>ATG [Lys>Met]	Hb A2-Zhaoqing	HBD:c.197A>G	δ	Causative	δ-chain variant	NG_000007.3	63507
3495	CD 65 AAG>AAT [Lys>Asn]	Hb A2-Yunnan	HBD:c.198G>T	δ	Causative	δ-chain variant	NG_000007.3	63508
2573	CD 67 GTG>ATG [Val>Met]	Hb A2-Deventer	HBD:c.202G>A	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63512
1372	CD 69 GGT>CGT	Hb A2-Indonesia	HBD:c.208G>C	δ	Causative	δ-chain variant	NG_000007.3	63518
3406	CD 69 GGT>GAT [Gly>Asp]	Hb A2-Gebenstorf	HBD:c.209G>A	δ	Causative	δ-chain variant	NG_000007.3	63519
1373	CD 70 GCC>GGC [Ala>Gly] (Cubstitution of Ala with Gly at helical position E14, which is in contact with heme.)	Hb A2-Ventimiglia	HBD:c.212C>G	δ	Causative	δ-chain variant	NG_000007.3	63522
3335	CD 73 GAT>GTT [Asp>Val]	Hb A2-Henan	HBD:c.221A>T	δ	Causative	δ-chain variant	NG_000007.3	63531
2324	CD 74 GGC>GAC [Gly>Asp]	Hb A2-Asti	HBD:c.224G>A	δ	Causative	δ-chain variant	NG_000007.3	63534
1374	CD 75 CTG>GTG	Hb A2-Grovetown	HBD:c.226C>G	δ	Causative	δ-chain variant	NG_000007.3	63536
4092	CD 76 GCT>GAT [Ala>Asp]	Hb A2-Moyen-Orient	HBD:c.230C>A	δ	Causative	δ-chain variant	NG_000007.3	63540
3256	CD 77 CAC>CGC [His>Arg]	Hb A2-Kiriwong	HBD:c.233A>G	δ	Causative	δ-chain variant	NG_000007.3	63543
4091	CD 79 GAC>AAC [Asp>Asn]	Hb A2-Guangxi	HBD:c.238G>A	δ	Causative	δ-chain variant	NG_000007.3	63548
2477	CD 79 GAC>GGC [Asp>Gly]	Hb A2-Turkish	HBD:c.239A>G	δ	Causative	δ-chain variant	NG_000007.3	63549
4032	CD 80 AAC>AAA [Asn>Lys]	Hb A2-Lishui	HBD:c.243C>A	δ	Causative	δ-chain variant	NG_000007.3	63552
2309	CD 81 CTC>TTC [Leu>Phe] (Hb A2-Saint-Denis)	Hb A2-St. George's	HBD:c.244C>T	δ	Causative	δ-chain variant	NG_000007.3	63554
2092	CD 82 AAG>TAG	N/A	NG_000007.3:g.63557A>T	δ	Causative	δ-thalassaemia	NG_000007.3	63557
3992	CD 82 AAG>AAT [Lys>Asn]; CD133 GTG>ATG [Val>Met]	Hb A2-Roi-Et	HBD:c.[249G>T;400G>A]	δ	Causative	δ-chain variant	NG_000007.3	63559, 64608
1375	CD 83 GGC>GAC [Gly>Asp]	Hb A2-Nishishinbashi	HBD:c.251G>A	δ	Causative	δ-chain variant	NG_000007.3	63561
1376	CD 85 TTT>TCT	Hb A2-Etolia	HBD:c.257T>C	δ	Causative	δ-chain variant	NG_000007.3	63567
1377	CD 87 CAG>AAG	Hb A2-Montechiaro	HBD:c.262C>A	δ	Causative	δ-chain variant	NG_000007.3	63572
3844	CD 87 CAG>TAG [Gln>STOP]	N/A	HBD:c.262C>T	δ	Causative	δ-thalassaemia	NG_000007.3	63572
4016	CD 87 CAG>CGG [Gln>Arg]	Hb A2-Cremona	HBD:c.263A>G	δ	Causative	δ-chain variant	NG_000007.3	63573
1378	CD 88 CTG>GTG	Hb A2-Lucania	HBD:c.265C>G	δ	Causative	δ-chain variant	NG_000007.3	63575
3547	CD 89 AGT>AAT [Ser>Asn]	Hb A2-Pistoia	HBD:c.269G>A	δ	Causative	δ-chain variant	NG_000007.3	63579
2476	CD 90 GAG>AAG [Glu>Lys]	Hb A2-Canebière	HBD:c.271G>A	δ	Causative	δ-chain variant	NG_000007.3	63581
2354	CD 90 GAG>GGG [Glu>Gly]	Hb A2-India	HBD:c.272A>G	δ	Causative	δ-chain variant	NG_000007.3	63582
1379	CD 90 GAG>GTG [Glu>Val]	Hb A2-Honai	HBD:c.272A>T	δ	Causative	δ-chain variant	NG_000007.3	63582
3383	CD 91 CTG>CCG [Leu>Pro]	Hb A2-Courbevoie	HBD:c.275T>C	δ	Causative	δ-chain variant	NG_000007.3	63585
1380	CD 93 TGT>GGT	Hb A2-Sant' Antioco	HBD:c.280T>G	δ	Causative	δ-chain variant	NG_000007.3	63590
4013	CD 93 TGT>TGG [Cys>Trp]	Hb A2-Pontedera	HBD:c.282T>G	δ	Causative	δ-chain variant	NG_000007.3	63592
4031	CD 96 CTG>CGG [Leu>Arg]	Hb A2-Hubei	HBD:C.290T>G	δ	Causative	δ-chain variant	NG_000007.3	63600
3222	CD 97 CAC>CGC [His>Arg]	Hb A2-Merchang	HBD:c.293A>G	δ	Causative	δ-chain variant	NG_000007.3	63603
3787	CD 97 CAC>CAT [His>His]	N/A	HBD:c.294C>T	δ	Neutral	N/A	NG_000007.3	63604
1339	CD 98 (GTG>ATG)	Hb A2-Wrens	HBD:c.295G>A	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63605
1382	CD 99 GAT>AAT	Hb A2-Canada	HBD:c.298G>A	δ	Causative	δ-chain variant	NG_000007.3	63608
4038	CD 99 GAT>GGT [Asp>Gly]	Hb A2-Wanxian	HBD:c.299A>G	δ	Causative	δ-chain variant	NG_000007.3	63609
3003	CD 100 CCT>TCT [Pro>Ser]	Hb A2-Saurashtra	HBD:c.301C>T	δ	Causative	δ-chain variant	NG_000007.3	63611
3002	CD 104 AGG>AAG [Arg>Lys]	Hb Chori-Burnaby	HBD:c.314G>A	δ	Causative	δ-chain variant	NG_000007.3	63624
1383	CD 104 AGG>AGT	Hb A2-Capri	HBD:c.315G>T	δ	Causative	δ-chain variant	NG_000007.3	63625
1340	IVS II-1 G>A	N/A	HBD:c.315+1G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63626
1341	IVS II-6 (T>A)	N/A	HBD:c.315+6T>A	δ	Causative	δ-thalassaemia	NG_000007.3	63631
1342	IVS II-894 C>T	N/A	HBD:c.316-5C>T	δ	Causative	δ-thalassaemia	NG_000007.3	64519
1343	IVS II-897 A>C	N/A	HBD:c.316-2A>C	δ	Causative	δ-thalassaemia	NG_000007.3	64522
2473	IVS II-897 A>G	N/A	HBD:c.316-2A>G	δ	Causative	δ-thalassaemia	NG_000007.3	64522
2201	CD 107 G>A [Gly>Asp]	Hb A2-Tianhe	HBD:c.323G>A	δ	Causative	δ-chain variant	NG_000007.3	64531
3235	CD 108 AAT>GAT [Asn>Asp]	Hb A2-Meizhou	HBD:c.325A>G	δ	Causative	δ-chain variant	NG_000007.3	64533
3230	CD 115 GCC>GTC [Ala>Val]	N/A	HBD:c.347C>T	δ	Causative	δ-thalassaemia	NG_000007.3	64555
3229	CD 116 CGC>GGC [Arg>Gly]	N/A	HBD:c.349C>G	δ	Causative	δ-thalassaemia	NG_000007.3	64557
1384	CD 116 CGC>TGC [Arg>Cys]	Hb A2-Troodos	HBD:c.349C>T	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64557
1385	CD 116 CGC>CAC [Arg>His]	Hb A2-Coburg	HBD:c.350G>A	δ	Causative	δ-chain variant	NG_000007.3	64558
3314	CD 116 CGC>CCC [Arg>Pro]	Hb A2-Bornova	HBD:c.350G>C	δ	Causative	δ-chain variant	NG_000007.3	64558
3318	CD 116 CGC>CTC [Arg>Leu] (Hb A2-India)	Hb A2-Lepore	HBD:c.350G>T	δ	Causative	δ-chain variant	NG_000007.3	64558
1386	CD 117 AAC>GAC	Hb A2-Liangcheng	HBD:c.352A>G	δ	Causative	δ-chain variant	NG_000007.3	64560
2574	CD 117 AAC>ACC [Asn>Thr]	Hb A2-Amsterdam	HBD:c.353A>C	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64561
2363	CD 119 GGC>GAC [Gly>Asp]	Hb A2-Lewisburg	HBD:c.359G>A	δ	Causative	δ-chain variant	NG_000007.3	64567
3843	CD 120 AAG>ACG [Lys>Thr]	Hb A2-Liangqing	HBD:c.362A>C	δ	Causative	δ-chain variant	NG_000007.3	64570
3058	CD 121 GAA>AAA [Glu>Lys]	Hb A2-Fengshun	HBD:c.364G>A	δ	Causative	δ-chain variant	NG_000007.3	64572
1387	CD 121 GAA>GTA	Hb A2-Manzanares	HBD:c.365A>T	δ	Causative	δ-chain variant	NG_000007.3	64573
4012	CD 123 ACC>GCC [Thr>Ala]	Hb A2-Kuching	HBD:c.370A>G	δ	Causative	δ-chain variant	NG_000007.3	64578
1388	CD 125 CAA>GAA	Hb A2-Zagreb	HBD:c.376C>G	δ	Causative	δ-chain variant	NG_000007.3	64584
4034	CD 125 CAA>CGA [Gln>Arg]	Hb A2-Tongchuan	HBD:c.377A>G	δ	Causative	δ-chain variant	NG_000007.3	64585
3546	CD 130 TAT>-AT	Hb A2-Gaslini 1	HBD:c.391delT	δ	Causative	δ-chain variant	NG_000007.3	64599
3490	CD 131 CAG>GAG [Gln>Glu]	Hb A2-Puer	HBD:c.394C>G	δ	Causative	δ-chain variant	NG_000007.3	64602
1389	CD 133 GTG>GCG	Hb A2-Ninive	HBD:c.401T>C	δ	Causative	δ-chain variant	NG_000007.3	64609
3842	CD134 GTG>GAG [Val>Glu]	N/A	HBD:c.404T>A	δ	Causative	δ-thalassaemia	NG_000007.3	64612
1390	CD 136 GGT>GAT [Gly>Asp]	Hb A2-Babinga	HBD:c.410G>A	δ	Causative	δ-chain variant	NG_000007.3	64618
1391	CD 140 GCC>GTC	Hb A2-Bagheria	HBD:c.422C>T	δ	Causative	δ-chain variant	NG_000007.3	64630
1392	CD 141 CTG>CCG	Hb A2-Pelendri	HBD:c.425T>C	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64633
2524	CD 142 GCT>CCT [Ala>Pro]	N/A	HBD:c.427C>A	δ	Causative	δ-chain variant	NG_000007.3	64635
2560	CD 142 GCT>GTT [Ala>Val]	Hb A2-Episkopi	HBD:c.428C>T	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64636
1393	CD 142 GCT>GAT [Ala>Asp]	Hb A2-Fitzroy	HBD:c.428C>A	δ	Causative	δ-chain variant	NG_000007.3	64636
2392	CD 143 CAC>TAC [His>Tyr]	Hb Noah Mehmet Oeztuerk	HBD:c.430C>T	δ	Causative	δ-chain variant	NG_000007.3	64638
2421	CD 143 CAC>GAC [His>Asp]	Hb A2-Leuven	HBD:c.430C>G	δ	Causative	δ-chain variant	NG_000007.3	64638
2989	CD 143 CAC>CGC [His>Arg] (Hb A2-Abruzzo)	Hb A2-Leuven II	HBD:c.431A>G	δ	Causative	δ-chain variant	NG_000007.3	64639
3376	CD 144 AAG>GAG [Lys>Glu]	Hb A2-Angola	HBD:c.433A>G	δ	Causative	δ-chain variant	NG_000007.3	64641
2349	CD 144 AAG>ACG [Lys>Thr]	Hb A2-San Floro	HBD:c.434A>C	δ	Causative	δ-chain variant	NG_000007.3	64642
1394	CD 146 CAT>CGT	Hb A2-Monreale	HBD:c.440A>G	δ	Causative	δ-chain variant	NG_000007.3	64648
3269	CD 147 TGA>CGA [Stop>Arg]	N/A	HBD:c.442T>C	δ	Causative	δ-thalassaemia	NG_000007.3	64650
2520	CD 147 TGA>TTA	N/A	HBD:c.443G>T	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	64651
4033	Poly A +69 (G>T)	N/A	HBD:c.*199G>T	δ	Causative	δ-thalassaemia	NG_000007.3	64851
1346	Poly A +69 (G>A)	N/A	HBD:c.*199G>A	δ	Causative	δ-thalassaemia	NG_000007.3	64851
2872	rs6578588	N/A	NG_000007.3:g.66595A>G	HBB-HBD	Modifier	Hb F levels, Severity	NG_000007.3	66595
3188	rs7944544	N/A	NG_000007.3:g.66997C>A	HBB-HBD	Modifier	Anaemia	NG_000007.3	66997
3189	rs7936823	N/A	NG_000007.3:g.68678C>T	β	Modifier	Hb F levels, Anaemia, Severity	NG_000007.3	68678
2869	rs1003586	N/A	NG_000007.3:g.69476G>A	β	Modifier	Hb F levels	NG_000007.3	69476
2036	-487 T>C	N/A	NG_000007.3:g.70076C>T	β	Neutral	N/A	NG_000007.3	70076
2037	-300 C>T	N/A	NG_000007.3:g.70205C>T	β	Neutral	N/A	NG_000007.3	70205
3081	-223 T>C	N/A	HBB:c.-273T>C	β	Causative	β-thalassaemia	NG_000007.3	70322
3562	-198 A>G	N/A	HBB:c.-248A>G	β	Causative	β-thalassaemia	NG_000007.3	70347
1	-190 (G>A)	N/A	HBB:c.-240G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70355
2546	-126 C>T	N/A	HBB:c.-176C>T	β	Neutral	N/A	NG_000007.3	70419
2	-102 (C>A)	N/A	HBB:c.-152C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70443
3	-101 (C>T)	N/A	HBB:c.-151C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70444
4	-101 (C>G)	N/A	HBB:c.-151C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70444
3059	-98 T>A	N/A	HBB:c.-148T>A	β	Causative	β-thalassaemia	NG_000007.3	70447
5	-93 C>G	N/A	HBB:c.-143C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70452
6	-92 (C>T)	N/A	HBB:c.-142C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70453
7	-90 (C>T)	N/A	HBB:c.-140C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70455
3224	-90 (C>G)	N/A	HBB:c.-140C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70455
2178	-88 C>G	N/A	HBB:c.-138C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70457
8	-88 (C>T)	N/A	HBB:c.-138C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70457
9	-88 (C>A)	N/A	HBB:c.-138C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70457
10	-87 C>G	N/A	HBB:c.-137C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70458
11	-87 (C>T)	N/A	HBB:c.-137C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70458
12	-87 (C>A)	N/A	HBB:c.-137C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70458
13	-86 C>G	N/A	HBB:c.-136C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70459
14	-86 (C>A)	N/A	HBB:c.-136C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70459
4028	-86 C>T	N/A	HBB:c.-136C>T	β	Causative	β-thalassaemia	NG_000007.3	70459
3077	-83 G>A	N/A	HBB:c.-133G>A	β	Causative	β-thalassaemia	NG_000007.3	70462
3069	-77 G>C	N/A	HBB:c.-127G>C	β	Causative	β-thalassaemia	NG_000007.3	70468
3386	-76 C>A	N/A	HBB:c.-126C>A	β	Causative	β-thalassaemia	NG_000007.3	70469
3671	-76 C>T	N/A	HBB:c.-126C>T	β	Causative	β-thalassaemia	NG_000007.3	70469
3672	-73 A>C	N/A	HBB:c.-123A>C	β	Causative	β-thalassaemia	NG_000007.3	70472
3673	-73 A>G	N/A	HBB:c.-123A>G	β	Causative	β-thalassaemia	NG_000007.3	70472
15	-73 (A>T)	N/A	HBB:c.-123A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70472
2997	-72 T>A	N/A	HBB:c.-122T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70473
2171	-71 C>T	N/A	HBB:c.-121C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70474
3674	-63 A>G	N/A	HBB:c.-113A>G	β	Causative	β-thalassaemia	NG_000007.3	70482
16	-56 G>C	N/A	HBB:c.-106G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70489
2039	-54 G>A	N/A	NG_000007.3:g.70491G>A	β	Neutral	N/A	NG_000007.3	70491
17	-50 G>A	N/A	HBB:c.-100G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70495
3060	-42 C>G	N/A	HBB:c.-92C>G	β	Causative	β-thalassaemia	NG_000007.3	70503
2172	-41 A>T	N/A	HBB:c.-91A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70504
18	-32 (C>A)	N/A	HBB:c.-82C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70513
19	-32 (C>T)	N/A	HBB:c.-82C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70513
20	-31 (A>G)	N/A	HBB:c.-81A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70514
21	-31 (A>C)	N/A	HBB:c.-81A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70514
22	-30 (T>A)	N/A	HBB:c.-80T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70515
23	-30 (T>C)	N/A	HBB:c.-80T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70515
2179	-30 T>G	N/A	HBB:c.-80T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70515
25	-29 (A>G)	N/A	HBB:c.-79A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70516
26	-29 (A>C)	N/A	HBB:c.-79A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70516
28	-28 (A>C)	N/A	HBB:c.-78A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70517
29	-28 (A>G)	N/A	HBB:c.-78A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70517
30	-27 (A>T)	N/A	HBB:c.-77A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70518
2175	-26 A>C	N/A	HBB:c.-76A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70519
2565	-25 G>T	N/A	HBB:c.-75G>T	β	Causative	β-thalassaemia	NG_000007.3	70520
32	-25 (G>C)	N/A	HBB:c.-75G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70520
3926	-17 (A>G)	N/A	HBB:c.-67A>G	β	Causative	β-thalassaemia	NG_000007.3	70528
34	CAP +1 (A>C)	N/A	HBB:c.-50A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70545
3464	CAP +3 A>T	N/A	HBB:c.-48A>T	β	Causative	β-thalassaemia	NG_000007.3	70547
35	CAP +8 (C>T)	N/A	HBB:c.-43C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70552
2494	CAP +16 A>G	N/A	HBB:c.-35A>G	β	Neutral	N/A	NG_000007.3	70560
37	CAP +20 C>T; IVS II-745 C>G	N/A	HBB:c.[-31C>T;316-106C>G]	β	Neutral	N/A	NG_000007.3	70564, 71784
38	CAP +22 (G>A)	N/A	HBB:c.-29G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70566
3345	CAP +22 (G>T)	N/A	HBB:c.-29G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70566
3676	CAP +27 (C>G)	N/A	HBB:c.-24C>G	β	Causative	β-thalassaemia	NG_000007.3	70571
2536	CAP +30 T>A	N/A	HBB:c.-21T>A	β	Causative	β-thalassaemia	NG_000007.3	70574
4089	CAP +32 (G>C)	N/A	HBB:c.-19G>C	β	Causative	β-thalassaemia	NG_000007.3	70576
39	CAP +33 (C>G)	N/A	HBB:c.-18C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70577
2176	CAP +39 C>T	N/A	HBB:c.-12C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70583
41	CAP +45 (G>C)	Hb Odisha	HBB:c.-6G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70589
42	Init CD ATG>GTG	N/A	HBB:c.1A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70595
43	Init CD ATG>CTG	N/A	HBB:c.1A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70595
44	Init CD ATG>ACG	N/A	HBB:c.2T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70596
45	Init CD ATG>AGG	N/A	HBB:c.2T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70596
46	Init CD ATG>AAG	N/A	HBB:c.2T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70596
47	Init CD ATG>ATC	N/A	HBB:c.3G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70597
48	Init CD ATG>ATA	N/A	HBB:c.3G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70597
49	Init CD ATG>ATT	N/A	HBB:c.3G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70597
790	CD 1 GTG>ATG	Hb South Florida	HBB:c.4G>A	β	Causative	β-chain variant	NG_000007.3	70598
791	CD 1 GTG>TTG	Hb Niigata	HBB:c.4G>T	β	Causative	β-chain variant	NG_000007.3	70598
792	CD 1 GTG>GGG	Hb Watford	HBB:c.5T>G	β	Causative	β-chain variant	NG_000007.3	70599
793	CD 1 GTG>GCG	Hb Raleigh	HBB:c.5T>C	β	Causative	β-chain variant	NG_000007.3	70599
794	CD 1 GTG>GAG	Hb Doha	HBB:c.5T>A	β	Causative	β-chain variant	NG_000007.3	70599
795	CD 2 CAT>TAT	Hb Fukuoka	HBB:c.7C>T	β	Causative	β-chain variant	NG_000007.3	70601
2542	CD 2 CAT>AAT [His>Asn]	Hb Franklin Park	HBB:c.7C>A	β	Causative	β-chain variant	NG_000007.3	70601
796	CD 2 CAT>CCT [His>Pro] (Hb Long Island-Marseille, Hb Agrigente)	Hb Marseille	HBB:c.8A>C	β	Causative	β-chain variant	NG_000007.3	70602
797	CD 2 CAT>CTT	Hb Graz	HBB:c.8A>T	β	Causative	β-chain variant	NG_000007.3	70602
799	CD 2 CAT>CGT	Hb Deer Lodge	HBB:c.8A>G	β	Causative	β-chain variant	NG_000007.3	70602
800	CD 2 CAT>CAA or CAG	Hb Okayama	HBB:c.9T>A \| HBB:c.9T>G	β	Causative	β-chain variant	NG_000007.3	70603
2041	CD 2 CAC>CAT [His>His]	N/A	NG_000007.3:g.70603T>C	β	Neutral	N/A	NG_000007.3	70603
3007	rs713040 (NM_000518.5(HBB):c.9T>C)	N/A	NG_059281.1:g.5059T>C	β	Neutral	N/A	NG_000007.3	70603
2327	CD 3 CTG>ATG [Leu>Met]	Hb Niguarda	HBB:c.10C>A	β	Causative	β-chain variant	NG_000007.3	70604
3794	CD 3 (CTG>AAG) [Leu>Lys]	Hb Jiangnan	HBB:c.10_11delinsAA	β	Causative	β-chain variant	NG_000007.3	70604
3850	CD 3 CTG>TTG [Leu>Leu]	N/A	HBB:c.10C>T	β	Neutral	N/A	NG_000007.3	70604
802	CD 3 CTG>GTG [Leu>Val]	Hb Kamakura	HBB:c.10C>G	β	Causative	β-chain variant	NG_000007.3	70604
803	CD 3 CTG>CAG [Leu>Gln]	Hb Santo Domingo	HBB:c.11T>A	β	Causative	β-chain variant	NG_000007.3	70605
2359	CD 3 CTG>CCG [Leu>Pro]	Hb Jabalpur	HBB:c.11T>C	β	Causative	β-chain variant	NG_000007.3	70605
3878	CD 3 CTG>CGG [Leu>Arg]	Hb Sedgwick	HBB:c.11T>G	β	Causative	β-chain variant	NG_000007.3	70605
2326	CD 4 ACT>CCT [Thr>Pro]	Hb Benin City	HBB:c.13A>C	β	Causative	β-chain variant	NG_000007.3	70607
3949	CD 4 ACT>ATT [Thr>Ile]	Hb Fox Point	HBB:c.14C>T	β	Causative	β-chain variant	NG_000007.3	70608
804	CD 4 ACT>AAT	Hb Wurzburg	HBB:c.14C>A	β	Causative	β-chain variant	NG_000007.3	70608
55	CD 4/5/6: CD 4 (ACT>ACA), CD 5 (CCT>TCT), CD 6 (GAG>TAG)	N/A	HBB:c.[15T>A;16C>T;19G>T]	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70609, 70610, 70613
805	CD 5 CCT>TCT	Hb Tyne	HBB:c.16C>T	β	Causative	β-chain variant	NG_000007.3	70610
806	CD 5 CCT>GCT [Pro>Ala] (Hb Hinchingbrooke)	Hb Gorwihl	HBB:c.16C>G	β	Causative	β-chain variant	NG_000007.3	70610
807	CD 5 CCT>CGT	Hb Warwickshire	HBB:c.17C>G	β	Causative	β-chain variant	NG_000007.3	70611
2321	CD 5 CCT>CTT [Pro>Leu]	Hb Aix-les-Bains	HBB:c.17C>T	β	Causative	β-chain variant	NG_000007.3	70611
56	CD 6 (GAG>TAG)	N/A	HBB:c.19G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70613
808	CD 6 GAG>AAG; CD 95 AAG>GAG	Hb Arlington Park	HBB:c.[19G>A;286A>G]	β	Causative	β-chain variant	NG_000007.3	70613
809	CD 6 GAG>AAG [Glu>Lys] and CD 98 GTG>ATG [Val>Met]	Hb Kingsbury	HBB:c.[19G>A ;295G>A]	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70613
810	CD 6 GAG>AAG [Glu>Lys]	HbC	HBB:c.19G>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70613
811	CD 6 GAG>AAG [Glu>Lys]; CD 37 TGG>AGG or CGG [Trp>Arg]	Hb C-Rothschild	HBB:c.[19G>A;112T>A] \| HBB:c.[19G>A;112T>C]	β	Causative	β-chain variant	NG_000007.3	70613, 70836
812	CD 6 GAG>AAG; CD 83 GGC>GAC	Hb C-New Cross	HBB:c.[19G>A;251G>A]	β	Causative	β-chain variant	NG_000007.3	70613
813	CD 6 GAG>CAG	Hb Machida	HBB:c.19G>C	β	Causative	β-chain variant	NG_000007.3	70613
814	CD 6 GAG>GTG	Hb S-South End	HBB:c.[20A>T;399A>C]	β	Causative	β-chain variant	NG_000007.3	70614
815	CD 6 GAG>GTG; CD 23 GTT>ATT	Hb S-Antilles	HBB:c.[20A>T;70G>A]	β	Causative	β-chain variant	NG_000007.3	70614
816	CD 6 GAG>GTG; CD 58 CCT>CGT	Hb C-Ziguinchor	HBB:c.[20A>T;176C>G]	β	Causative	β-chain variant	NG_000007.3	70614
817	CD 6 GAG>GTG; CD 73 GAT>AAT	Hb C-Harlem	HBB:c.[20A>T;220G>A]	β	Causative	β-chain variant	NG_000007.3	70614
818	CD 6 GAG>GTG; CD 82AAG>AAT or AAC	Hb S-Providence	HBB:c.[20A>T;249G>C] \| HBB:c.[20A>T;249G>T]	β	Causative	β-chain variant	NG_000007.3	70614
819	CD 6 GAG>GTG; CD 142 GCC>GTC	Hb S-Travis	HBB:c.[20A>T;428C>T]	β	Causative	β-chain variant	NG_000007.3	70614
820	CD 6 GAG>GTG [Glu>Val]; CD 37 TGG>GGG [Trp>Gly]	Hb C-Ndjamena; Hb S-Northwick	HBB:c.[20A>T;112T>G]	β	Causative	β-chain variant	NG_000007.3	70614, 70836
821	CD 6 GAG>GTG; CD 121 GAA>AAA	Hb S-Oman	HBB:c.[20A>T;364G>A]	β	Causative	β-chain variant	NG_000007.3	70614
822	CD 6 GAG>GTG [Glu>Val], CD 8 AAG>ACG [Lys>Thr]	Hb S-Clichy	HBB:c.[20A>T;26A>C]	β	Causative	β-chain variant	NG_000007.3	70614
823	CD 6 GAG>GTG; CD 90 GAG>AAG	Hb S-Cameroon	HBB:c.[20A>T;271G>A]	β	Causative	β-chain variant	NG_000007.3	70614
824	CD 6 GAG>GTG [Glu>Val] (Sickle-cell)	HbS	HBB:c.20A>T	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70614
825	CD 6 GAG>GTG; CD 68 CTC>TTC	Hb Jamaica Plain	HBB:c.[20A>T;205C>T]	β	Causative	β-chain variant	NG_000007.3	70614
826	CD 6 GAG>GCG	Hb G-Makassar	HBB:c.20A>C	β	Causative	β-chain variant	NG_000007.3	70614
827	CD 6 GAG>GGG [Glu>Gly]	Hb Lavagna	HBB:c.20A>G	β	Causative	β-chain variant	NG_000007.3	70614
2440	CD 6 GAG>GTG [Glu>Val] AND CD 65 AAG>GAG [Lys>Glu]	Hb S-Sao Paulo	HBB:c.[20A>T ;196A>G]	β	Causative	β-chain variant	NG_000007.3	70614, 70920
3324	CD 6 GAG>GTG [Glu>Val]; CD 139 AAT>AGT [Asn>Ser]	Hb S-Wake	HBB:c.[20A>T;419A>G]	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70614, 71993
2400	CD 7 GAG>CAG [Glu>Gln] (Hb Bellevue III)	Hb Vellore	HBB:c.22G>C	β	Causative	β-chain variant	NG_000007.3	70616
60	CD 7 GAG>TAG	N/A	HBB:c.22G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70616
829	CD 7 GAG>AAG	Hb G-Siriraj	HBB:c.22G>A	β	Causative	β-chain variant	NG_000007.3	70616
830	CD 7 GAG>GGG	Hb G-San José	HBB:c.23A>G	β	Causative	β-chain variant	NG_000007.3	70617
2963	CD 7 GAG>GTG [Glu>Val]	Hb Haaglanden	HBB:c.23A>T	β	Causative	β-chain variant	NG_000007.3	70617
2382	CD 7 GAG>GAT [Glu>Asp]	Hb Stockholm	HBB:c.24G>T	β	Causative	β-chain variant	NG_000007.3	70618
831	CD 8 AAG>CAG [Lys>Gln]	Hb J-Luhe	HBB:c.25A>C	β	Causative	β-chain variant	NG_000007.3	70619
832	CD 8 AAG>GAG	Hb N-Timone	HBB:c.25A>G	β	Causative	β-chain variant	NG_000007.3	70619
833	CD 8 AAG>ACG	Hb Rio Grande	HBB:c.26A>C	β	Causative	β-chain variant	NG_000007.3	70620
834	CD 8 AAG>ATG	Hb Nakano	HBB:c.26A>T	β	Causative	β-chain variant	NG_000007.3	70620
835	CD 8 AAG>AGG [Lys>Arg]	Hb Lucknow	HBB:c.26A>G	β	Causative	β-chain variant	NG_000007.3	70620
836	CD 8 AAG>AAC	Hb Limassol	HBB:c.27G>C	β	Causative	β-chain variant	NG_000007.3	70621
3513	CD 8 AAG>AA-	N/A	HBB:c.27delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70621
3401	CD 9 TCT>TTT [Ser>Phe]	Hb Hengyang	HBB:c.29C>T	β	Causative	β-chain variant	NG_000007.3	70623
837	CD 9 TCT>TAT	Hb Brem-sur-Mer	HBB:c.29C>A	β	Causative	β-chain variant	NG_000007.3	70623
838	CD 9 TCT>TGT	Hb Pôrto Alegre	HBB:c.29C>G	β	Causative	β-chain variant	NG_000007.3	70623
839	CD 9 TCT>TAT; CD 121 GAA>CAA	Hb D-Agri	HBB:c.[29C>A;364G>C]	β	Causative	β-chain variant	NG_000007.3	70623
840	CD 10 GCC>ACC [Ala>Thr]	Hb Belleville	HBB:c.31G>A	β	Causative	β-chain variant	NG_000007.3	70625
841	CD 10 GCC>GTC	Hb Iraq-Halabja	HBB:c.32C>T	β	Causative	β-chain variant	NG_000007.3	70626
842	CD 10 GCC>GAC	Hb Ankara	HBB:c.32C>A	β	Causative	β-chain variant	NG_000007.3	70626
65	CD 10 GCC>GCA [Ala>Ala]	N/A	HBB:c.33C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70627
843	CD 11 GTT>ATT	Hb Hamilton	HBB:c.34G>A	β	Causative	β-chain variant	NG_000007.3	70628
844	CD 11 GTT>TTT	Hb Washtenaw	HBB:c.34G>T	β	Causative	β-chain variant	NG_000007.3	70628
845	CD 11 GTT>ATT; CD 121 GAA>AAA	Hb O-Tibesti	HBB:c.[34G>A;364G>A]	β	Causative	β-chain variant	NG_000007.3	70628
847	CD 11 GTT>GAT	Hb Windsor	HBB:c.35T>A	β	Causative	β-chain variant	NG_000007.3	70629
2492	CD 12 ACT>CCT [Thr>Pro] (Hb Feilding)	Hb Ashburton	HBB:c.37A>C	β	Causative	β-chain variant	NG_000007.3	70631
2543	CD 12 ACT>ATT [Thr>Ile]	Hb William-Harvey	HBB:c.38C>T	β	Causative	β-chain variant	NG_000007.3	70632
3359	CD 13 GCC>ACC [Ala>Thr] (Hb Chuxiong)	Hb Tower Hamlets	HBB:c.40G>A	β	Causative	β-chain variant	NG_000007.3	70634
3248	CD 13 GCC>GTC [Ala>Val]	Hb Yulin	HBB:c.41C>T	β	Causative	β-chain variant	NG_000007.3	70635
848	CD 13 GCC>GAC	Hb J-Lens	HBB:c.41C>A	β	Causative	β-chain variant	NG_000007.3	70635
849	CD 14 CTG>CCG	Hb Saki	HBB:c.44T>C	β	Causative	β-chain variant	NG_000007.3	70638
850	CD 14 CTG>CGG	Hb Sogn	HBB:c.44T>G	β	Causative	β-chain variant	NG_000007.3	70638
851	CD 15 TGG>GGG	Hb Randwick	HBB:c.46T>G	β	Causative	β-chain variant	NG_000007.3	70640
852	CD 15 TGG>AGG or CGG	Hb Belfast	HBB:c.46T>A \| HBB:c.46T>C	β	Causative	β-chain variant	NG_000007.3	70640
72	CD 15 TGG>TAG	N/A	HBB:c.47G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70641
73	CD 15 TGG>TGA	N/A	HBB:c.48G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70642
2464	CD 15 TGG>TGC or TGT [Trp>Cys]	Hb Garston	HBB:c.48G>Y	β	Causative	β-chain variant	NG_000007.3	70642
2374	CD 16 GGC>TGC [Gly>Cys]	Hb Whitmire	HBB:c.49G>T	β	Causative	β-chain variant	NG_000007.3	70643
853	CD 16 GGC>CGC	Hb D-Bushman	HBB:c.49G>C	β	Causative	β-chain variant	NG_000007.3	70643
854	CD 16 GGC>GAC (Hb J-Georgia , Hb J-Ireland , Hb J-Trinidad , Hb N-New Haven)	Hb J-Baltimore	HBB:c.50G>A	β	Causative	β-chain variant	NG_000007.3	70644
76	CD 16 GGC>GGT [Gly>Gly]	N/A	HBB:c.51C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70645
77	CD 17 AAG>TAG [Lys>STOP]	N/A	HBB:c.52A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70646
856	CD 17 AAG>GAG	Hb Nagasaki	HBB:c.52A>G	β	Causative	β-chain variant	NG_000007.3	70646
857	CD 17 AAG>CAG (Hb Nicosia)	Hb Nikosia	HBB:c.52A>C	β	Causative	β-chain variant	NG_000007.3	70646
2298	CD 17 AAG>ATG (Lys>Met)	Hb Ede	HBB:c.53A>T	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70647
858	CD 17 AAG>AAC or AAT	Hb J-Amiens	HBB:c.54G>C \| HBB:c.54G>T	β	Causative	β-chain variant	NG_000007.3	70648
859	CD 18 GTG>ATG	Hb Baden	HBB:c.55G>A	β	Causative	β-chain variant	NG_000007.3	70649
3005	CD 18 GTG>CTG [Val>Leu]	Hb Bhubaneswar	HBB:c.55G>C	β	Causative	β-chain variant	NG_000007.3	70649
860	CD 18 GTG>GGG	Hb Sinai-Baltimore	HBB:c.56T>G	β	Causative	β-chain variant	NG_000007.3	70650
861	CD 19 AAC>GAC	Hb Alamo	HBB:c.58A>G	β	Causative	β-chain variant	NG_000007.3	70652
79	CD 19 AAC>AGC [Asn>Ser]	Hb Malay	HBB:c.59A>G	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70653
863	CD 19 AAC>AAA or AAG	Hb D-Ouled Rabah	HBB:c.60C>A \| HBB:c.60C>G	β	Causative	β-chain variant	NG_000007.3	70654
864	CD 20 GTG>ATG	Hb Olympia	HBB:c.61G>A	β	Causative	β-chain variant	NG_000007.3	70655
865	CD 20 GTG>GGG	Hb Uxbridge	HBB:c.62T>G	β	Causative	β-chain variant	NG_000007.3	70656
866	CD 20 GTG>GAG	Hb Trollhättan	HBB:c.62T>A	β	Causative	β-chain variant	NG_000007.3	70656
2974	CD 20 GTG>GCG [Val>Ala]	Hb Howden	HBB:c.62T>C	β	Causative	β-chain variant	NG_000007.3	70656
867	CD 21 GAT>TAT	Hb Yusa	HBB:c.64G>T	β	Causative	β-chain variant	NG_000007.3	70658
868	CD 21 GAT>CAT	Hb Karlskoga	HBB:c.64G>C	β	Causative	β-chain variant	NG_000007.3	70658
869	CD 21 GAT>AAT	Hb Cocody	HBB:c.64G>A	β	Causative	β-chain variant	NG_000007.3	70658
870	CD 21 GAT>GGT	Hb Connecticut	HBB:c.65A>G	β	Causative	β-chain variant	NG_000007.3	70659
871	CD 21 GAT>GTT	Hb Rocky Mountain	HBB:c.65A>T	β	Causative	β-chain variant	NG_000007.3	70659
83	CD 22 (GAA>TAA)	N/A	HBB:c.67G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70661
873	CD 22 GAA>CAA	Hb D-Iran	HBB:c.67G>C	β	Causative	β-chain variant	NG_000007.3	70661
874	CD 22 GAA>AAA	Hb E-Saskatoon	HBB:c.67G>A	β	Causative	β-chain variant	NG_000007.3	70661
875	CD 22 GAA>GTA	Hb D-Granada	HBB:c.68A>T	β	Causative	β-chain variant	NG_000007.3	70662
876	CD 22 GAA>GCA (Hb G-Hsin Chu, Hb G-Saskatoon, Hb G-Taegu)	Hb G-Coushatta	HBB:c.68A>C	β	Causative	β-chain variant	NG_000007.3	70662
877	CD 22 GAA>GGA	Hb G-Taipei	HBB:c.68A>G	β	Causative	β-chain variant	NG_000007.3	70662
872	CD 22-26 (-12bp)	Hb Olinda	HBB:c.69_80delAGTTGGTGGTGA	β	Causative	β-chain variant	NG_000007.3	70663
2330	CD 22 GAA>GAT [Glu>Asp]	Hb Bury	HBB:c.69A>T	β	Causative	β-chain variant	NG_000007.3	70663
4106	CD 23 GTT>TTT; CD 26 GAG>AAG	Hb E-Palmerston North	HBB:c.[70G>T;79G>A]	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70664, 70673
879	CD 23 GTT>ATT [Val>Ile]	Hb Saveh	HBB:c.70G>A	β	Causative	β-chain variant	NG_000007.3	70664
880	CD 23 GTT>TTT	Hb Palmerston North	HBB:c.70G>T	β	Causative	β-chain variant	NG_000007.3	70664
881	CD 23 GTT>GCT	Hb Zoeterwoude	HBB:c.71T>C	β	Causative	β-chain variant	NG_000007.3	70665
882	CD 23 GTT>GGT	Hb Miyashiro	HBB:c.71T>G	β	Causative	β-chain variant	NG_000007.3	70665
883	CD 23 GTT>GAT	Hb Strasbourg	HBB:c.71T>A	β	Causative	β-chain variant	NG_000007.3	70665
885	CD 24 GGT>CGT	Hb Riverdale-Bronx	HBB:c.73G>C	β	Causative	β-chain variant	NG_000007.3	70667
886	CD 24 GGT>GAT [Gly>Asp]	Hb Moscva	HBB:c.74G>A	β	Causative	β-chain variant	NG_000007.3	70668
887	CD 24 GGT>GTT	Hb Savannah	HBB:c.74G>T	β	Causative	β-chain variant	NG_000007.3	70668
2174	CD 24 -G	N/A	HBB:c.74delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70668
86	CD 24 GGT>GGA [Gly>Gly]	N/A	HBB:c.75T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70669
888	CD 25 GGT>CGT	Hb G-Taiwan-Ami	HBB:c.76G>C	β	Causative	β-chain variant	NG_000007.3	70670
2452	CD 25 GGT>AGT [Gly>Ser]	Hb Brazzaville	HBB:c.76G>A	β	Causative	β-chain variant	NG_000007.3	70670
889	CD 25 GGT>GAT	Hb J-Auckland	HBB:c.77G>A	β	Causative	β-chain variant	NG_000007.3	70671
88	CD 26 GAG>AAG [Glu>Lys]	HbE	HBB:c.79G>A	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70673
89	CD 26 (GAG>TAG)	N/A	HBB:c.79G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70673
891	CD 26 GAG>AAG, CD 104 AGG>ACG	Hb Corbeil	HBB:c.[79G>A;314G>C]	β	Causative	β-chain variant	NG_000007.3	70673
892	CD 26 GAG>AAG; CD 121 GAA>CAA	Hb T-Cambodia	HBB:c.[79G>A;364G>C]	β	Causative	β-chain variant	NG_000007.3	70673
3035	CD 26 GAG>CAG [Glu>Gln]	Hb King's Mill	HBB:c.79G>C	β	Causative	β-chain variant	NG_000007.3	70673
3409	CD 26 GAG>AAG, IVS I-7 A>G	Hb E-Udon Thani	HBB:c.[79G>A;92+7A>G]	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70673, 70693
3597	CD 26 (GAG>AAG); CD 104 (AGG>GGG)	Hb E-Gurdaspur	HBB:c.[79G>A;313A>G]	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70673, 71037
4023	CD 26 GAG>AAG, IVS I-7 A>T	N/A	HBB:c.[79G>A;92+7A>T]	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70673, 70693
893	CD 26 GAG>GGG	Hb Aubenas	HBB:c.80A>G	β	Causative	β-chain variant	NG_000007.3	70674
894	CD 26 GAG>GCG	Hb Tripoli	HBB:c.80A>C	β	Causative	β-chain variant	NG_000007.3	70674
895	CD 26 GAG>GTG [Glu>Val]	Hb Henri Mondor	HBB:c.80A>T	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70674
2403	CD 26 GAG>GAC or GAT [Glu>Asp]	Hb Marijampolė	HBB:c.81G>Y	β	Causative	β-chain variant	NG_000007.3	70675
3635	CD 26 GAG>GAA	N/A	HBB:c.81G>A	β	Neutral	N/A	NG_000007.3	70675
91	CD 27 GCC>TCC [Ala>Ser]	Hb Knossos	HBB:c.82G>T	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70676
897	CD 27 GCC>GTC	Hb Grange-Blanche	HBB:c.83C>T	β	Causative	β-chain variant	NG_000007.3	70677
898	CD 27 GCC>GAC	Hb Volga	HBB:c.83C>A	β	Causative	β-chain variant	NG_000007.3	70677
899	CD 27 GCC>GGC [Ala>Gly]	Hb Siirt	HBB:c.83C>G	β	Causative	β-chain variant	NG_000007.3	70677
3781	CD 27 GCC>GCT [Ala>Ala]	N/A	HBB:c.84C>T	β	Neutral	N/A	NG_000007.3	70678
900	CD 28 CTG>ATG [Leu>Met]	Hb Chile	HBB:c.85C>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70679
94	CD 28 CTG>CGG [Leu >Arg]	Hb Chesterfield	HBB:c.86T>G	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70680
901	CD 28 CTG>CCG [Leu>Pro]	Hb Genova	HBB:c.86T>C	β	Causative	β-chain variant	NG_000007.3	70680
902	CD 28 CTG>CAG [Leu>Gln]	Hb Saint Louis	HBB:c.86T>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70680
904	CD 29 GGC>AGC [Gly>Ser]	Hb Tizi-Ouzou	HBB:c.88G>A	β	Causative	β-chain variant	NG_000007.3	70682
2523	CD 29 GGC>CGC [Gly>Arg]	Hb Dompierre	HBB:c.88G>C	β	Causative	β-chain variant	NG_000007.3	70682
905	CD 29 GGC>GAC	Hb Lufkin	HBB:c.89G>A	β	Causative	β-chain variant	NG_000007.3	70683
96	CD 29 (C>T) or IVS I (-3) GGC>GGT (Gly>Gly)	N/A	HBB:c.90C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70684
2044	CD 29 GGC>GGG [Gly>Gly]	N/A	NG_000007.3:g.70684C>G	β	Neutral	N/A	NG_000007.3	70684
97	CD 30 (A>G) or IVS I (-2) AGG>GGG (Arg>Gly)	N/A	HBB:c.91A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70685
98	CD 30 (A>C) or IVS I (-2) AGG>CGG [Arg>Arg]	N/A	HBB:c.91A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70685
3710	CD 30 AGG>TGG [Arg>Trp]	Hb New Berlin	HBB:c.91A>T	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70685
99	CD 30 (G>A) or IVS I (-1) AGG>AAG (Arg>Lys)	N/A	HBB:c.92G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70686
100	CD 30 (G>C) or IVS I (-1) AGG>ACG (Arg>Thr) (Hb Kairouan)	Hb Monroe	HBB:c.92G>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70686
101	IVS I-1 G>A	N/A	HBB:c.92+1G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70687
102	IVS I-1 (G>T)	N/A	HBB:c.92+1G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70687
103	IVS I-1 (G>C)	N/A	HBB:c.92+1G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70687
104	IVS I-2 (T>G)	N/A	HBB:c.92+2T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70688
105	IVS I-2 (T>C)	N/A	HBB:c.92+2T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70688
106	IVS I-2 (T>A)	N/A	HBB:c.92+2T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70688
107	IVS I-5 (G>C)	N/A	HBB:c.92+5G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70691
108	IVS I-5 (G>T)	N/A	HBB:c.92+5G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70691
109	IVS I-5 (G>A)	N/A	HBB:c.92+5G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70691
111	IVS I-6 (T>C)	N/A	HBB:c.92+6T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70692
3565	IVS I-6 (T>G)	N/A	HBB:c.92+6T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70692
3276	IVS I-7 A>G	N/A	HBB:c.92+7A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70693
112	IVS I-7 A>T	N/A	HBB:c.92+7A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70693
3445	IVS I-13 G>T	N/A	HBB:c.92+13G>T	β	Neutral	N/A	NG_000007.3	70699
2045	IVS I-16 A>C	N/A	NG_000007.3:g.70702A>C	β	Neutral	N/A	NG_000007.3	70702
3246	IVS I-44 A>G	N/A	HBB:c.92+44A>G	β	Neutral	N/A	NG_000007.3	70730
3690	IVS I-65 (G>A)	N/A	HBB:c.92+65G>A	β	Causative	β-thalassaemia	NG_000007.3	70751
2046	IVS I-91 C>T	N/A	HBB:c.93-40C>T	β	Neutral	N/A	NG_000007.3	70777
2047	IVS I-93 G>A	N/A	NG_000007.3:g.70779G>A	β	Neutral	N/A	NG_000007.3	70779
3066	IVS I-108 T>C	N/A	HBB:c.93-23T>C	β	Causative	β-thalassaemia	NG_000007.3	70794
113	IVS I-110 G>A	N/A	HBB:c.93-21G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70796
3008	IVS I-115 (A>T)	N/A	HBB:c.93-16A>T	β	Causative	β-thalassaemia	NG_000007.3	70801
114	IVS I-116 (T>G)	N/A	HBB:c.93-15T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70802
115	IVS I-128 (T>G)	N/A	HBB:c.93-3T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70814
116	IVS I-129 (A>C)	N/A	HBB:c.93-2A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70815
117	IVS I-129 (A>G)	N/A	HBB:c.93-2A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70815
4067	IVS I-129 (A>T)	N/A	HBB:c.93-2A>T	β	Causative	β-thalassaemia	NG_000007.3	70815
118	IVS I-130 G>C	N/A	HBB:c.93-1G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70816
119	IVS I-130 (G>A)	N/A	HBB:c.93-1G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70816
120	IVS I-130 (+1) or CD 30, (G>C); AGG>AGC (Arg>Ser)	Hb Tacoma II	HBB:c.93G>C	β	Causative	β-thalassaemia	NG_000007.3	70817
907	CD 30 AGG>AGT [Arg>Ser]	Hb Tacoma	HBB:c.93G>T	β	Causative	β-chain variant	NG_000007.3	70817
908	CD 31 CTG>GTG	Hb Badalona	HBB:c.94C>G	β	Causative	β-chain variant	NG_000007.3	70818
909	CD 31 CTG>CGG	Hb Hakkari	HBB:c.95T>G	β	Causative	β-chain variant	NG_000007.3	70819
910	CD 31 CTG>CCG	Hb Yokohama	HBB:c.95T>C	β	Causative	β-chain variant	NG_000007.3	70819
911	CD 32 CTG>GTG	Hb Muscat	HBB:c.97C>G	β	Causative	β-chain variant	NG_000007.3	70821
127	CD 32 CTG>CAG: CD 98 GTG>ATG	Hb Medicine Lake	HBB:c.[98T>A; 295G>A]	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70822
912	CD 32 CTG>CCG	Hb Perth	HBB:c.98T>C	β	Causative	β-chain variant	NG_000007.3	70822
913	CD 32 CTG>CAG [Leu>Gln]	Hb Clermont Ferrand	HBB:c.98T>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70822
915	CD 32 CTG>CGG [Leu>Arg]	Hb Castilla	HBB:c.98T>G	β	Causative	β-chain variant	NG_000007.3	70822
916	CD 33 GTG>ATG	Hb Rio Claro	HBB:c.100G>A	β	Causative	β-chain variant	NG_000007.3	70824
3364	CD 33 GTG>TTG [Val>Leu]	Hb Venissieux	HBB:c.100G>T	β	Causative	β-chain variant	NG_000007.3	70824
919	CD 34 GTC>CTC	Hb Nantes	HBB:c.103G>C	β	Causative	β-chain variant	NG_000007.3	70827
920	CD 34 GTC>TTC	Hb Pitie-Salpetriere	HBB:c.103G>T	β	Causative	β-chain variant	NG_000007.3	70827
921	CD 34 GTC>GAC	Hb Santander	HBB:c.104T>A	β	Causative	β-chain variant	NG_000007.3	70828
3700	CD 34 GTC>GCC [Val>Ala]	Hb San Francisco-KP	HBB:c.104T>C	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70828
2331	CD 35 TAC>CAC [Tyr>His]	Hb Fulwood	HBB:c.106T>C	β	Causative	β-chain variant	NG_000007.3	70830
3795	CD 35 TAC>GAC [Tyr>Asp]	Hb Oristano	HBB:c.106T>G	β	Causative	β-chain variant	NG_000007.3	70830
132	CD 35 TAC>TGC [Tyr>Cys]	N/A	HBB:c.107A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70831
922	CD 35 TAC>TTC [Tyr>Phe]	Hb Philly	HBB:c.107A>T	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70831
133	CD 35 TAC>TAA	N/A	HBB:c.108C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70832
2048	CD 35 TAC>TAT [Tyr>Tyr]	N/A	NG_000007.3:g.70832C>T	β	Neutral	N/A	NG_000007.3	70832
3023	CD 35 TAC>TAG	N/A	HBB:c.108C>G	β	Causative	β-thalassaemia	NG_000007.3	70832
923	CD 36 CCT>ACT	Hb Linköping	HBB:c.109C>A	β	Causative	β-chain variant	NG_000007.3	70833
924	CD 36 CCT>GCT	Hb Brie Comte Robert	HBB:c.109C>G	β	Causative	β-chain variant	NG_000007.3	70833
925	CD 36 CCT>TCT	Hb North Chicago	HBB:c.109C>T	β	Causative	β-chain variant	NG_000007.3	70833
926	CD 36 CCT>CGT [Pro>Arg]	Hb Sunnybrook	HBB:c.110C>G	β	Causative	β-chain variant	NG_000007.3	70834
927	CD 36 CCT>CAT	Hb Vila Real	HBB:c.110C>A	β	Causative	β-chain variant	NG_000007.3	70834
928	CD 37 TGG>AGG [Trp>Arg]	Hb Rothschild	HBB:c.112T>A	β	Causative	β-chain variant	NG_000007.3	70836
929	CD 37 TGG>GGG	Hb Howick	HBB:c.112T>G	β	Causative	β-chain variant	NG_000007.3	70836
138	CD 37 (TGG>TAG)	N/A	HBB:c.113G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70837
930	CD 37 TGG>TCG	Hb Hirose	HBB:c.113G>C	β	Causative	β-chain variant	NG_000007.3	70837
3918	CD 37 TGG>TTG [Trp>Leu]	Hb Alessandria	HBB:c.113G>T	β	Causative	β-chain variant	NG_000007.3	70837
3282	CD 37 TGG>TGC [Trp>Cys] (Hb Kent)	N/A	HBB:c.114G>C	β	Causative	β-chain variant	NG_000007.3	70838
137	CD 37 (TGG>TGA)	N/A	HBB:c.114G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70838
931	CD 37 TGG>TGT [Trp>Cys] (Hb Greendale)	Hb Kent	HBB:c.114G>T	β	Causative	β-chain variant	NG_000007.3	70838
932	CD 38 ACC>CCC	Hb Hazebrouck	HBB:c.115A>C	β	Causative	β-chain variant	NG_000007.3	70839
4112	CD 38 ACC>GCC [Thr>Ala]	Hb Oviedo	HBB:c.115A>G	β	Causative	β-chain variant	NG_000007.3	70839
933	CD 38 ACC>AAC	Hb Hinwil	HBB:c.116C>A	β	Causative	β-chain variant	NG_000007.3	70840
934	CD 38 ACC>ATC	Hb La Coruna	HBB:c.116C>T	β	Causative	β-chain variant	NG_000007.3	70840
2280	CD 38 ACC>AGC	N/A	HBB:c.116C>G	β	Causative	β-chain variant	NG_000007.3	70840
142	CD 39 CAG>TAG [Gln>STOP]	N/A	HBB:c.118C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70842
935	CD 39 CAG>AAG	Hb Alabama	HBB:c.118C>A	β	Causative	β-chain variant	NG_000007.3	70842
936	CD 39 CAG>GAG	Hb Vaasa	HBB:c.118C>G	β	Causative	β-chain variant	NG_000007.3	70842
937	CD 39 CAG>CGG [Gln>Arg]	Hb Tianshui	HBB:c.119A>G	β	Causative	β-chain variant	NG_000007.3	70843
2962	CD 39 CAG>CCG [Gln>Pro]	Hb Hyden	HBB:c.119A>C	β	Causative	β-chain variant	NG_000007.3	70843
938	CD 39 CAG>CAC	Hb San Bruno	HBB:c.120G>C	β	Causative	β-chain variant	NG_000007.3	70844
4045	CD 40 AGG>GGG [Arg>Gly]	Hb Montpellier	HBB:c.121A>G	β	Causative	β-chain variant	NG_000007.3	70845
2544	CD 40 AGG>ACG [Arg>Thr]	Hb Alcorn County	HBB:c.122G>C	β	Causative	β-chain variant	NG_000007.3	70846
939	CD 40 AGG>AAG [Arg>Lys]	Hb Athens-GA	HBB:c.122G>A	β	Causative	β-chain variant	NG_000007.3	70846
940	CD 40 AGG>ATG [Arg>Met]	Hb Taipei-Tien	HBB:c.122G>T	β	Causative	β-chain variant	NG_000007.3	70846
941	CD 40 AGG>AGT [Arg>Ser]	Hb Austin	HBB:c.123G>T	β	Causative	β-chain variant	NG_000007.3	70847
3004	CD 41 TTC>GTC [Phe>Val]	Hb Valme	HBB:c.124T>G	β	Causative	β-chain variant	NG_000007.3	70848
942	CD 41 TTC>TGC	Hb Ilmenau	HBB:c.125T>G	β	Causative	β-chain variant	NG_000007.3	70849
943	CD 41 TTC>TCC	Hb Denver	HBB:c.125T>C	β	Causative	β-chain variant	NG_000007.3	70849
944	CD 41 TTC>TAC	Hb Mequon	HBB:c.125T>A	β	Causative	β-chain variant	NG_000007.3	70849
2387	CD 67 GTG>ATG [Val>Met] AND CD 41 TTC>TTG [Phe>Leu]	Hb Brevedent	HBB:c.[202G>A ;126C>G]	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70850
2972	CD 41 TTC>TTA [Phe>Leu]	Hb Wilton	HBB:c.126C>A	β	Causative	β-chain variant	NG_000007.3	70850
2461	CD 42 TTT>ATT [Phe>Ile]	Hb Oslo	HBB:c.127T>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70851
947	CD 42 TTT>CTT [Phe>Leu]	Hb Louisville	HBB:c.127T>C	β	Causative	β-chain variant	NG_000007.3	70851
948	CD 42 TTT>GTT (Hb Warsaw)	Hb Sendagi	HBB:c.127T>G	β	Causative	β-chain variant	NG_000007.3	70851
949	CD 42 TTT>TCT [Phe>Ser]	Hb Hammersmith	HBB:c.128T>C	β	Causative	β-chain variant	NG_000007.3	70852
2332	CD 42 TTT>TGT [Phe>Cys]	Hb Little Venice	HBB:c.128T>G	β	Causative	β-chain variant	NG_000007.3	70852
4079	CD 42 TTT>TTA [Phe>Leu]	Hb Suqian	HBB:c.129T>A	β	Causative	β-chain variant	NG_000007.3	70853
3594	CD 43 (GAG>TAG);CD 71/72 (+A)	N/A	HBB:c.[130G>T;217dupA]	β	Causative	β-thalassaemia	NG_000007.3	70854, 70941
150	CD 43 (GAG>TAG)	N/A	HBB:c.130G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70854
950	CD 43 GAG>CAG	Hb Hoshida	HBB:c.130G>C	β	Causative	β-chain variant	NG_000007.3	70854
951	CD 43 GAG>AAG [Glu>Lys]	Hb Hornchurch	HBB:c.130G>A	β	Causative	β-chain variant	NG_000007.3	70854
952	CD 43 GAG>GGG [Glu>Gly]	Hb Haringey	HBB:c.131A>G	β	Causative	β-chain variant	NG_000007.3	70855
953	CD 43 GAG>GCG	Hb G-Galveston	HBB:c.131A>C	β	Causative	β-chain variant	NG_000007.3	70855
954	CD 44 TCC>TGC	Hb Mississippi	HBB:c.134C>G	β	Causative	β-chain variant	NG_000007.3	70858
3969	CD 44 TCC>TTC [Ser>Phe]	Hb Narges Lab	HBB:c.134C>T	β	Causative	β-chain variant	NG_000007.3	70858
2531	CD 45 TTT>GTT [Phe>Val]	Hb Duc Pho	HBB:c.136T>G	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70860
955	CD 45 TTT>TCT	Hb Cheverly	HBB:c.137T>C	β	Causative	β-chain variant	NG_000007.3	70861
956	CD 45 TTT>TAT [Phe>Tyr]	Hb Den Haag	HBB:c.137T>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70861
957	CD 45 TTT>TGT	Hb Arta	HBB:c.137T>G	β	Causative	β-chain variant	NG_000007.3	70861
958	CD 46 GGG>AGG	Hb Gainesville-GA	HBB:c.139G>A	β	Causative	β-chain variant	NG_000007.3	70863
3567	CD 46 GGG>CGG [Gly>Arg]	Hb Cenxi	HBB:c.139G>C	β	Causative	β-chain variant	NG_000007.3	70863
959	CD 46 GGG>GAG	Hb K-Ibadan	HBB:c.140G>A	β	Causative	β-chain variant	NG_000007.3	70864
960	CD 47 GAT>AAT [Asp>Asn]	Hb G-Copenhagen	HBB:c.142G>A	β	Causative	β-chain variant	NG_000007.3	70866
961	CD 47 GAT>CAT [Asp>His]	Hb Maryland	HBB:c.142G>C	β	Causative	β-chain variant	NG_000007.3	70866
962	CD 47 GAT>TAT	Hb Maputo	HBB:c.142G>T	β	Causative	β-chain variant	NG_000007.3	70866
963	CD 47 GAT>GCT	Hb Avicenna	HBB:c.143A>C	β	Causative	β-chain variant	NG_000007.3	70867
964	CD 47 GAT>GGT	Hb Gavello	HBB:c.143A>G	β	Causative	β-chain variant	NG_000007.3	70867
965	CD 47 GAT>GTT	Hb Muravera	HBB:c.143A>T	β	Causative	β-chain variant	NG_000007.3	70867
966	CD 48 CTG>CGG	Hb Okaloosa	HBB:c.146T>G	β	Causative	β-chain variant	NG_000007.3	70870
967	CD 48 CTG>CCG	Hb Bab-Saadoun	HBB:c.146T>C	β	Causative	β-chain variant	NG_000007.3	70870
3494	CD 49 TCC>CCC [Ser>Pro]	Hb Yunnan	HBB:c.148T>C	β	Causative	β-chain variant	NG_000007.3	70872
968	CD 49 TCC>TGC	Hb Colima	HBB:c.149C>G	β	Causative	β-chain variant	NG_000007.3	70873
969	CD 49 TCC>TTC	Hb Las Palmas	HBB:c.149C>T	β	Causative	β-chain variant	NG_000007.3	70873
970	CD 50 ACT>TCT [Thr>Ser]	Hb Zurich-Langstrasse	HBB:c.151A>T	β	Causative	β-chain variant	NG_000007.3	70875
3571	CD 50 ACT>GCT [Thr>Ala]	N/A	HBB:c.151A>G	β	Causative	β-thalassaemia	NG_000007.3	70875
3940	CD 50 ACT>TCT [Thr>Ser]; IVS II-654 C>T	Hb Zurich-Langstrasse	HBB:c.[151A>T;316-197C>T]	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70875, 71693
971	CD 50 ACT>AAG or AAA	Hb Edmonton	HBB:c.[152C>A;153T>A] \| HBB:c.[152C>A;153T>G]	β	Causative	β-chain variant	NG_000007.3	70876
2049	CD 50 ACT>ACA [Thr>Thr]	N/A	NG_000007.3:g.70877T>A	β	Neutral	N/A	NG_000007.3	70877
972	CD 51 CCT>TCT, CD 52 GAT>AAT	Hb Grenoble	HBB:c.[154C>T;157G>A]	β	Causative	β-chain variant	NG_000007.3	70878
973	CD 51 CCT>CAT	Hb North Manchester	HBB:c.155C>A	β	Causative	β-chain variant	NG_000007.3	70879
974	CD 51 CCT>CGT	Hb Willamette	HBB:c.155C>G	β	Causative	β-chain variant	NG_000007.3	70879
975	CD 52 GAT>TAT [Asp>Tyr]	Hb Languidic	HBB:c.157G>T	β	Causative	β-chain variant	NG_000007.3	70881
976	CD 52 GAT>CAT	Hb Summer Hill	HBB:c.157G>C	β	Causative	β-chain variant	NG_000007.3	70881
977	CD 52 GAT>AAT	Hb Osu Christiansborg	HBB:c.157G>A	β	Causative	β-chain variant	NG_000007.3	70881
978	CD 52 GAT>GGT	Hb Hokusetsu	HBB:c.158A>G	β	Causative	β-chain variant	NG_000007.3	70882
979	CD 52 GAT>GCT	Hb Ocho Rios	HBB:c.158A>C	β	Causative	β-chain variant	NG_000007.3	70882
980	CD 52 GAT>GTT [Asp>Val]	Hb Akron	HBB:c.158A>T	β	Causative	β-chain variant	NG_000007.3	70882
982	CD 53 GCT>ACT	Hb Acharnes	HBB:c.160G>A	β	Causative	β-chain variant	NG_000007.3	70884
2964	CD 53 GCT>GTT [Ala>Val]	Hb Midnapore	HBB:c.161C>T	β	Causative	β-chain variant	NG_000007.3	70885
3368	CD 54 GTT>CTT [Val>Leu]	Hb Askew	HBB:c.163G>C	β	Causative	β-chain variant	NG_000007.3	70887
983	CD 54 GTT>GAT	Hb Jacksonville	HBB:c.164T>A	β	Causative	β-chain variant	NG_000007.3	70888
164	CD 54-58 (-13bp)	N/A	HBB:c.165_177delTATGGGCAACCCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70889
984	CD 55 ATG>AAG	Hb Matera	HBB:c.167T>A	β	Causative	β-chain variant	NG_000007.3	70891
985	CD 56 GGC>TGC	Hb Leeds	HBB:c.169G>T	β	Causative	β-chain variant	NG_000007.3	70893
986	CD 56 GGC>CGC	Hb Hamadan	HBB:c.169G>C	β	Causative	β-chain variant	NG_000007.3	70893
987	CD 56 GGC>CGC; CD 86 GCC>CCC	Hb Poissy	HBB:c.[169G>C;259G>C]	β	Causative	β-chain variant	NG_000007.3	70893
988	CD 56 GGC>GAC (Hb J-Korat , Hb J-Manado , Hb J-Meinung)	Hb J-Bangkok	HBB:c.170G>A	β	Causative	β-chain variant	NG_000007.3	70894
3780	CD 56 GGC>GGT [Gly>Gly]	N/A	HBB:c.171C>T	β	Neutral	N/A	NG_000007.3	70895
990	CD 57 AAC>CAC [Asn>His]	Hb Sidcup	HBB:c.172A>C	β	Causative	β-chain variant	NG_000007.3	70896
991	CD 57 AAC>GAC	Hb J-Daloa	HBB:c.172A>G	β	Causative	β-chain variant	NG_000007.3	70896
992	CD 57 AAC>ACC [Asn>Thr]	Hb Viseu	HBB:c.173A>C	β	Causative	β-chain variant	NG_000007.3	70897
2333	CD 57 AAC>AGC [Asn>Ser]	Hb Cork	HBB:c.173A>G	β	Causative	β-chain variant	NG_000007.3	70897
3779	CD 57 AAC>AAT [Asn>Asn]	N/A	HBB:c.174C>T	β	Neutral	N/A	NG_000007.3	70898
993	CD 57 AAC>AAA or AAG	Hb G-Ferrara	HBB:c.174C>A \| HBB:c.174C>G	β	Causative	β-chain variant	NG_000007.3	70898
994	CD 58 CCT>CAT [Pro>His]	Hb Sheffield	HBB:c.176C>A	β	Causative	β-chain variant	NG_000007.3	70900
995	CD 58 CCT>CGT [Pro>Arg]	Hb Dhofar	HBB:c.176C>G	β	Causative	β-chain variant	NG_000007.3	70900
169	CD 59 (AAG>TAG)	N/A	HBB:c.178A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70902
996	CD 59 AAG>GAG	Hb I-High Wycombe	HBB:c.178A>G	β	Causative	β-chain variant	NG_000007.3	70902
2998	CD 59 AAG>CAG [ Lys>Gln]	Hb Hillsborought	HBB:c.178A>C	β	Causative	β-chain variant	NG_000007.3	70902
3061	CD 59 (+T)	N/A	HBB:c.178_179insT	β	Causative	β-thalassaemia	NG_000007.3	70902
3747	CD 59 AAG>ATG [Lys>Met]	Hb Dahua	HBB:c.179A>T	β	Causative	β-chain variant	NG_000007.3	70903
997	CD 59 AAG>ACG [Lys>Thr]	Hb J-Kaohsiung	HBB:c.179A>C	β	Causative	β-chain variant	NG_000007.3	70903
998	CD 59 AAG>AAC or AAT	Hb J-Lome	HBB:c.180G>C \| HBB:c.180G>T	β	Causative	β-chain variant	NG_000007.3	70904
2050	CD 59 AAG>AAA [Lys>Lys]	N/A	HBB:c.180G>A	β	Neutral	N/A	NG_000007.3	70904
999	CD 60 GTG>CTG [Val>Leu]	Hb Yatsushiro	HBB:c.181G>C	β	Causative	β-chain variant	NG_000007.3	70905
170	CD 60 GTG>GAG [Val>Glu]	Hb Cagliari	HBB:c.182T>A	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70906
1000	CD 60 GTG>GCG [Leu>Ala]	Hb Collingwood	HBB:c.182T>C	β	Causative	β-chain variant	NG_000007.3	70906
172	CD 61 (AAG>TAG)	N/A	HBB:c.184A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70908
1002	CD 61 AAG>CAG	Hb Pocos de Caldas	HBB:c.184A>C	β	Causative	β-chain variant	NG_000007.3	70908
1003	CD 61 AAG>GAG	Hb N-Seattle	HBB:c.184A>G	β	Causative	β-chain variant	NG_000007.3	70908
1004	CD 61 AAG>ATG	Hb Bologna	HBB:c.185A>T	β	Causative	β-chain variant	NG_000007.3	70909
1005	CD 61 AAG>AAC or AAT [Lys>Asn]	Hb Hikari	HBB:c.186G>C \| HBB:c.186G>T	β	Causative	β-chain variant	NG_000007.3	70910
1006	CD 62 GCT>CCT	Hb Duarte	HBB:c.187G>C	β	Causative	β-chain variant	NG_000007.3	70911
1007	CD 62 GCT>GAT	Hb J-Europa	HBB:c.188C>A	β	Causative	β-chain variant	NG_000007.3	70912
3342	CD 62 GCT>GTT [Ala>Val]	Hb Hachioji	HBB:c.188C>T	β	Causative	β-chain variant	NG_000007.3	70912
1008	CD 63 CAT>AAT [His>Asn]	Hb Haná	HBB:c.190C>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70914
1009	CD 63 CAT>TAT (Hb Hörlein-Weber, Hb Leipzig, Hb M-Arhus, Hb M-Chicago, Hb M-Emory, Hb M-Erlangen, Hb M-Hamburg, Hb M-Hida, Hb M-Kurume, Hb M-Radom, Hb Novi Sad)	Hb M-Saskatoon	HBB:c.190C>T	β	Causative	β-chain variant	NG_000007.3	70914
1010	CD 63 CAT>CCT	Hb Bicêtre	HBB:c.191A>C	β	Causative	β-chain variant	NG_000007.3	70915
1011	CD 63 CAT>CGT [His>Arg] (Hb Zurich)	Hb Zürich	HBB:c.191A>G	β	Causative	β-chain variant	NG_000007.3	70915
2456	CD 63 CAT>CTT [His>Leu]	Hb Temple Street	HBB:c.191A>T	β	Causative	β-chain variant	NG_000007.3	70915
3629	CD 64 GGC>AGC [Gly>Ser]	Hb Hezhou	HBB:c.193G>A	β	Causative	β-chain variant	NG_000007.3	70917
2976	CD 64 GGC>GTC [Gly>Val]	Hb Calgary	HBB:c.194G>T	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70918
1012	CD 64 GGC>GCC	Hb Aubagne	HBB:c.194G>C	β	Causative	β-chain variant	NG_000007.3	70918
1013	CD 64 GGC>GAC	Hb J-Calabria	HBB:c.194G>A	β	Causative	β-chain variant	NG_000007.3	70918
1014	CD 65 AAG>CAG	Hb J-Cairo	HBB:c.196A>C	β	Causative	β-chain variant	NG_000007.3	70920
3559	CD 65 AAG>GAG [Lys>Glu]	Hb Guangxi	HBB:c.196A>G	β	Causative	β-chain variant	NG_000007.3	70920
1016	CD 65 AAG>ATG	Hb J-Antakya	HBB:c.197A>T	β	Causative	β-chain variant	NG_000007.3	70921
1017	CD 65 AAG>AAC or AAT	Hb J-Sicilia	HBB:c.198G>C \| HBB:c.198G>T	β	Causative	β-chain variant	NG_000007.3	70922
174	CD 66 AAA>TAA [Lys>STOP]	N/A	HBB:c.199A>T	β	Causative	β-thalassaemia	NG_000007.3	70923
1018	CD 66 AAA>GAA	Hb I-Toulouse	HBB:c.199A>G	β	Causative	β-chain variant	NG_000007.3	70923
1019	CD 66 AAA>ACA	Hb Chico	HBB:c.200A>C	β	Causative	β-chain variant	NG_000007.3	70924
3367	CD 66 AAA>ATA [Lys>Ile]	Hb Vigo	HBB:c.200A>T	β	Causative	β-chain variant	NG_000007.3	70924
1020	CD 66 AAA>AAT	Hb Ulm	HBB:c.201A>T	β	Causative	β-chain variant	NG_000007.3	70925
1021	CD 67 GTG>ATG [Val>Met] (Hb Bristol-Alesha, Hb Bristol)	Hb Alesha	HBB:c.202G>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70926
1023	CD 67 GTG>GGG [Val>Gly]	Hb Manukau	HBB:c.203T>G	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70927
1024	CD 67 GTG>GAG	Hb M-Milwaukee-I	HBB:c.203T>A	β	Causative	β-chain variant	NG_000007.3	70927
1025	CD 67 GTG>GCG	Hb Sydney	HBB:c.203T>C	β	Causative	β-chain variant	NG_000007.3	70927
1026	CD 68 CTC>TTC	Hb Loves Park	HBB:c.205C>T	β	Causative	β-chain variant	NG_000007.3	70929
1027	CD 68 CTC>CAC	Hb Brisbane	HBB:c.206T>A	β	Causative	β-chain variant	NG_000007.3	70930
1028	CD 68 CTC>CCC [Leu>Pro]	Hb Mizuho	HBB:c.206T>C	β	Causative	β-chain variant	NG_000007.3	70930
3778	CD 68 CTC>CTT [Leu>Leu]	N/A	HBB:c.207C>T	β	Neutral	N/A	NG_000007.3	70931
3851	CD 68 CTC>CTA [Leu>Leu]	N/A	HBB:c.207C>A	β	Neutral	N/A	NG_000007.3	70931
3798	CD 69 GGT>TGT [Gly>Cys]	Hb Miguel Servet	HBB:c.208G>T	β	Causative	β-chain variant	NG_000007.3	70932
1030	CD 69 GGT>AGT	Hb City of Hope	HBB:c.208G>A	β	Causative	β-chain variant	NG_000007.3	70932
1031	CD 69 GGT>CGT	Hb Kenitra	HBB:c.208G>C	β	Causative	β-chain variant	NG_000007.3	70932
1032	CD 69 GGT>GAT	Hb Rambam	HBB:c.209G>A	β	Causative	β-chain variant	NG_000007.3	70933
1033	CD 70 GCC>CCC [Ala>Pro]	Hb Abington	HBB:c.211G>C	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70935
3799	CD 70 GCC>ACC [Ala>Thr]	Hb La Mesa	HBB:c.211G>A	β	Causative	β-chain variant	NG_000007.3	70935
1034	CD 70 GCC>GAC	Hb Seattle	HBB:c.212C>A	β	Causative	β-chain variant	NG_000007.3	70936
1035	CD 70 GCC>GGC [Ala>Gly]	Hb Hershey	HBB:c.212C>G	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70936
1036	CD 70 GCC>GTC	Hb Marineo	HBB:c.212C>T	β	Causative	β-chain variant	NG_000007.3	70936
1037	CD 71 TTT>TCT	Hb Christchurch	HBB:c.215T>C	β	Causative	β-chain variant	NG_000007.3	70939
2969	CD 71 TTT>TAT [Phe>Tyr]	Hb Saint-Clair	HBB:c.215T>A	β	Causative	β-chain variant	NG_000007.3	70939
2401	CD 72 AGT>ACT [Ser>Thr]	Hb Phimai	HBB:c.218G>C	β	Causative	β-chain variant	NG_000007.3	70942
3374	CD 72 AGT>AGA [Ser>Arg]; CD 73 GAT>TAT [Asp>Tyr]	Hb South China	HBB:c.[219T>A;220G>T]	β	Causative	β-thalassaemia	NG_000007.3	70943, 70944
1038	CD 72 AGT>AGA	Hb Headington	HBB:c.219T>A	β	Causative	β-chain variant	NG_000007.3	70943
1039	CD 73 GAT>TAT	Hb Vancouver	HBB:c.220G>T	β	Causative	β-chain variant	NG_000007.3	70944
1040	CD 73 GAT>AAT (Hb Korle-Bu)	Hb G-Accra	HBB:c.220G>A	β	Causative	β-chain variant	NG_000007.3	70944
2478	CD 73 GAT>TAT>TTT [Asp>Phe]	Hb Meylan	HBB:c.[220G>T ;221A>T]	β	Causative	β-chain variant	NG_000007.3	70944
1041	CD 73 GAT>GGT	Hb Tilburg	HBB:c.221A>G	β	Causative	β-chain variant	NG_000007.3	70945
1042	CD 73 GAT>GTT	Hb Mobile	HBB:c.221A>T	β	Causative	β-chain variant	NG_000007.3	70945
1045	CD 74 GGC>AGC [Gly>Ser]	Hb Kokomo	HBB:c.223G>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70947
1046	CD 74 GGC>CGC [Gly>Arg]	Hb Aalborg	HBB:c.223G>C	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70947
1047	CD 74 GGC>GTC	Hb Bushwick	HBB:c.224G>T	β	Causative	β-chain variant	NG_000007.3	70948
1048	CD 74 GGC>GAC	Hb Shepherds Bush	HBB:c.224G>A	β	Causative	β-chain variant	NG_000007.3	70948
1051	CD 75 CTG>CCG	Hb Atlanta	HBB:c.227T>C	β	Causative	β-chain variant	NG_000007.3	70951
1052	CD 75 CTG>CGG	Hb Pasadena	HBB:c.227T>G	β	Causative	β-chain variant	NG_000007.3	70951
4080	CD 75 CTG>CAG [Leu>Gln]	Hb Raklev	HBB:c.227T>A	β	Causative	β-chain variant	NG_000007.3	70951
1053	CD 76 GCT>CCT	Hb Calais	HBB:c.229G>C	β	Causative	β-chain variant	NG_000007.3	70953
1054	CD 76 GCT>GTT [Ala>Val]	Hb Harlequin	HBB:c.230C>T	β	Causative	β-chain variant	NG_000007.3	70954
1055	CD 76 GCT>GAT	Hb J-Chicago	HBB:c.230C>A	β	Causative	β-chain variant	NG_000007.3	70954
1056	CD 77 CAC>TAC; CD 80 AAC>AGC	Hb Villeparisis	HBB:c.[232C>T;242A>G]	β	Causative	β-chain variant	NG_000007.3	70956
1057	CD 77 CAC>TAC	Hb Fukuyama	HBB:c.232C>T	β	Causative	β-chain variant	NG_000007.3	70956
1058	CD 77 CAC>GAC	Hb J-Iran	HBB:c.232C>G	β	Causative	β-chain variant	NG_000007.3	70956
2405	CD 77 CAC>AAC [His>Asn]	Hb Heilbronn	HBB:c.232C>A	β	Causative	β-chain variant	NG_000007.3	70956
2533	CD 77 CAC>CCC [His>Pro]	Hb Brooklyn	HBB:c.233A>C	β	Causative	β-chain variant	NG_000007.3	70957
1059	CD 77 CAC>CTC [His>Leu]	Hb St. Joseph's	HBB:c.233A>T	β	Causative	β-chain variant	NG_000007.3	70957
1060	CD 77 CAC>CGC [His>Arg]	Hb Costa Rica	HBB:c.233A>G	β	Causative	β-chain variant	NG_000007.3	70957
1061	CD 77 CAC>CAG	Hb Vienna	HBB:c.234C>G	β	Causative	β-chain variant	NG_000007.3	70958
2422	CD 78 CTG>GTG [Leu>Val]	Hb Ullevaal	HBB:c.235C>G	β	Causative	β-chain variant	NG_000007.3	70959
3371	CD 78 CTG>CCG [Leu>Pro]	Hb Penang	HBB:c.236T>C	β	Causative	β-chain variant	NG_000007.3	70960
1062	CD 78 CTG>CGG	Hb Quin-Hai	HBB:c.236T>G	β	Causative	β-chain variant	NG_000007.3	70960
1063	CD 79 GAC>CAC	Hb Tigraye	HBB:c.238G>C	β	Causative	β-chain variant	NG_000007.3	70962
1064	CD 79 GAC>AAC	Hb Yaizu	HBB:c.238G>A	β	Causative	β-chain variant	NG_000007.3	70962
1065	CD 79 GAC>TAC	Hb Tampa	HBB:c.238G>T	β	Causative	β-chain variant	NG_000007.3	70962
1066	CD 79 GAC>GGC [Asp>Gly]	Hb G-Hsi-Tsou	HBB:c.239A>G	β	Causative	β-chain variant	NG_000007.3	70963
3310	CD 79 GAC>GCC [Asp>Ala]	Hb Torbay	HBB:c.239A>C	β	Causative	β-chain variant	NG_000007.3	70963
3919	CD 79 GAC>GAA [Asp>Glu]	Hb Kalundborg	HBB:c.240C>A	β	Causative	β-chain variant	NG_000007.3	70964
2307	CD 80 AAC>CAC [Asn>His]	Hb East Timor	HBB:c.241A>C	β	Causative	β-chain variant	NG_000007.3	70965
2391	CD 80 AAC>GAC [Asn>Asp]	Hb Valley Park	HBB:c.241A>G	β	Causative	β-chain variant	NG_000007.3	70965
1067	CD 80 AAC>TAC [Asn>Tyr]	Hb Hounslow	HBB:c.241A>T	β	Causative	β-chain variant	NG_000007.3	70965
3392	CD 80 AAC>AGC [Asn>Ser]	Hb Moncloa	HBB:c.242A>G	β	Causative	β-chain variant	NG_000007.3	70966
1068	CD 80 AAC>AAG [Asn>Lys] (Hb Gifu)	Hb G-Szuhu	HBB:c.243C>G	β	Causative	β-chain variant	NG_000007.3	70967
2443	CD 81 CTC>TTC [Leu>Phe]	Hb Seville	HBB:c.244C>T	β	Causative	β-chain variant	NG_000007.3	70968
1069	CD 81 CTC>CGC	Hb Baylor	HBB:c.245T>G	β	Causative	β-chain variant	NG_000007.3	70969
1070	CD 81 CTC>CAC	Hb La Roche-sur-Yon	HBB:c.245T>A	β	Causative	β-chain variant	NG_000007.3	70969
3777	CD 81 CTC>CTG [Leu>Leu]	N/A	HBB:c.246C>G	β	Neutral	N/A	NG_000007.3	70970
1071	CD 82 AAG>CAG	Hb Tsurumai	HBB:c.247A>C	β	Causative	β-chain variant	NG_000007.3	70971
1072	CD 82 AAG>GAG	Hb Gàmbara	HBB:c.247A>G	β	Causative	β-chain variant	NG_000007.3	70971
1073	CD 82 AAG>ACG	Hb Rahere	HBB:c.248A>C	β	Causative	β-chain variant	NG_000007.3	70972
1074	CD 82 AAG>ATG	Hb Helsinki	HBB:c.248A>T	β	Causative	β-chain variant	NG_000007.3	70972
1075	CD 82 AAG>AGG	Hb Taradale	HBB:c.248A>G	β	Causative	β-chain variant	NG_000007.3	70972
1076	CD 82 AAG>AAC	Hb Providence	HBB:c.249G>C	β	Causative	β-chain variant	NG_000007.3	70973
1077	CD 83 GGC>CGC [Gly>Arg]	Hb Muskegon	HBB:c.250G>C	β	Causative	β-chain variant	NG_000007.3	70974
1078	CD 83 GGC>TGC [Gly>Cys]	Hb Ta-Li	HBB:c.250G>T	β	Causative	β-chain variant	NG_000007.3	70974
2534	CD 83 GGC>AGC [Gly>Ser]	Hb Basking Ridge	HBB:c.250G>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70974
1079	CD 83 GGC>GAC	Hb Pyrgos	HBB:c.251G>A	β	Causative	β-chain variant	NG_000007.3	70975
1080	CD 84 ACC>GCC	Hb Saale	HBB:c.253A>G	β	Causative	β-chain variant	NG_000007.3	70977
1081	CD 84 ACC>AAC [Thr>Asn]	Hb Beaujolais	HBB:c.254C>A	β	Causative	β-chain variant	NG_000007.3	70978
1082	CD 84 ACC>ATC	Hb Kofu	HBB:c.254C>T	β	Causative	β-chain variant	NG_000007.3	70978
3323	CD 85 TTT>CTT [Phe>Leu]	Hb San Martin	HBB:c.256T>C	β	Causative	β-chain variant	NG_000007.3	70980
2975	CD 85 TTT>TGT [Phe>Cys]	Hb Grantham	HBB:c.257T>G	β	Causative	β-chain variant	NG_000007.3	70981
1083	CD 85 TTT>TCT (Hb Bryn Mawr)	Hb Buenos Aires	HBB:c.257T>C	β	Causative	β-chain variant	NG_000007.3	70981
3586	CD 85 TTT>TTG [Phe>Leu]	Hb Kennisis	HBB:c.258T>G	β	Causative	β-chain variant	NG_000007.3	70982
3065	CD 86 GCC>ACC [Ala>Thr]	Hb Seoul	HBB:c.259G>A	β	Causative	β-chain variant	NG_000007.3	70983
1084	CD 86 GCC>CCC	Hb Cardarelli	HBB:c.259G>C	β	Causative	β-chain variant	NG_000007.3	70983
1085	CD 86 GCC>ACC>ATC [Ala>Ile]	Hb Nebraska	HBB:c.[259G>A;260C>T]	β	Causative	β-chain variant	NG_000007.3	70983
1086	CD 86 GCC>GAC	Hb Olomouc	HBB:c.260C>A	β	Causative	β-chain variant	NG_000007.3	70984
2454	CD 86 GCC>GTC [Ala>Val]	Hb Izmir	HBB:c.260C>T	β	Causative	β-chain variant	NG_000007.3	70984
1088	CD 87 ACA>CCA	Hb Valletta	HBB:c.262A>C	β	Causative	β-chain variant	NG_000007.3	70986
1089	CD 87 ACA>ATA	Hb Quebec-Chori	HBB:c.263C>T	β	Causative	β-chain variant	NG_000007.3	70987
1090	CD 87 ACA>AAA	Hb D-Ibadan	HBB:c.263C>A	β	Causative	β-chain variant	NG_000007.3	70987
3377	CD 87 ACA>AGA [Thr>Arg]	Hb Saint Jean d Ardieres	HBB:c.263C>G	β	Causative	β-chain variant	NG_000007.3	70987
3009	CD 88 CTG>ATG [Leu>Met]	Hb NISER	HBB:c.265C>A	β	Causative	β-chain variant	NG_000007.3	70989
1091	CD 88 CTG>GTG [Leu>Val]	Hb Oofuna	HBB:c.265C>G	β	Causative	β-chain variant	NG_000007.3	70989
1092	CD 88 CTG>CGG	Hb Borås	HBB:c.266T>G	β	Causative	β-chain variant	NG_000007.3	70990
1093	CD 88 CTG>CCG	Hb Santa Ana	HBB:c.266T>C	β	Causative	β-chain variant	NG_000007.3	70990
2051	CD 88 CTG>CTC [Leu>Leu]	N/A	NG_000007.3:g.70991G>C	β	Neutral	N/A	NG_000007.3	70991
1095	CD 89 AGT>AAT	Hb Créteil	HBB:c.269G>A	β	Causative	β-chain variant	NG_000007.3	70993
1096	CD 89 AGT>ACT	Hb Villaverde	HBB:c.269G>C	β	Causative	β-chain variant	NG_000007.3	70993
1094	CD 89 AGT>AGR [Ser>Arg]	Hb Vanderbilt	HBB:c.270T>R	β	Causative	β-chain variant	NG_000007.3	70994
192	CD 90 GAG>TAG	N/A	HBB:c.271G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70995
1097	CD 90 GAG>AAG	Hb Agenogi	HBB:c.271G>A	β	Causative	β-chain variant	NG_000007.3	70995
2491	CD 90 GAG>CAG [Glu>Gln]	Hb Henan	HBB:c.271G>C	β	Causative	β-chain variant	NG_000007.3	70995
3593	CD 90 GAG>GCG [Glu>Ala]	Hb Shenzhen	HBB:c.272A>C	β	Causative	β-chain variant	NG_000007.3	70996
1098	CD 90 GAG>GGG	Hb Roseau-Pointe a Pitre	HBB:c.272A>G	β	Causative	β-chain variant	NG_000007.3	70996
1099	CD 90 GAG>GAC [Glu>Asp]	Hb Pierre-Bénite	HBB:c.273G>C	β	Causative	β-chain variant	NG_000007.3	70997
3133	IVS II-1 G>A and CD 91 CTG>TTG [Leu>Leu]	N/A	HBB:c.[315+1G>A; 274C>T]	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70998, 71040
1101	CD 91 CTG>CCG	Hb Sabine	HBB:c.275T>C	β	Causative	β-chain variant	NG_000007.3	70999
1102	CD 91 CTG>CGG	Hb Caribbean	HBB:c.275T>G	β	Causative	β-chain variant	NG_000007.3	70999
1103	CD 92 CAC>GAC	Hb J-Altgeld Gardens	HBB:c.277C>G	β	Causative	β-chain variant	NG_000007.3	71001
1104	CD 92 CAC>TAC (Hb M-Akita, Hb M-Hyde Park)	Hb M-Milwaukee-2	HBB:c.277C>T	β	Causative	β-chain variant	NG_000007.3	71001
1105	CD 92 CAC>AAC	Hb Redondo	HBB:c.277C>A	β	Causative	β-chain variant	NG_000007.3	71001
1106	CD 92 CAC>CCC	Hb Newcastle	HBB:c.278A>C	β	Causative	β-chain variant	NG_000007.3	71002
1107	CD 92 CAC>CGC	Hb Mozhaisk	HBB:c.278A>G	β	Causative	β-chain variant	NG_000007.3	71002
1108	CD 92 CAC>CCC; CD 104 AGG>AGC	Hb Duino	HBB:c.[278A>C;315G>C]	β	Causative	β-chain variant	NG_000007.3	71002, 71039
1109	CD 92 CAC>CAG [His>Gln] (Hb Istanbul)	Hb Saint Etienne	HBB:c.279C>G	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71003
1110	CD 93 TGT>CGT: CD 121 GAA>CAA	Hb Cleveland	HBB:c.[280T>C;364G>C]	β	Causative	β-chain variant	NG_000007.3	71004
1111	CD 93 TGT>CGT	Hb Okazaki	HBB:c.280T>C	β	Causative	β-chain variant	NG_000007.3	71004
1112	CD 93 TGT>TAT	Hb Fort Dodge	HBB:c.281G>A	β	Causative	β-chain variant	NG_000007.3	71005
2442	CD 93 TGT>TCT [Cys>Ser]	Hb Riesa	HBB:c.281G>C	β	Causative	β-chain variant	NG_000007.3	71005
2441	CD 93 TGT>TGG [Cys>Trp]	Hb Santa Giusta Sardegna	HBB:c.282T>G	β	Causative	β-chain variant	NG_000007.3	71006
1114	CD 94 GAC>TAC	Hb Geldrop St Anna	HBB:c.283G>T	β	Causative	β-chain variant	NG_000007.3	71007
1115	CD 94 GAC>CAC	Hb Barcelona	HBB:c.283G>C	β	Causative	β-chain variant	NG_000007.3	71007
1116	CD 94 GAC>AAC	Hb Bunbury	HBB:c.283G>A	β	Causative	β-chain variant	NG_000007.3	71007
1117	CD 94 GAC>GGC	Hb Chandigarh	HBB:c.284A>G	β	Causative	β-chain variant	NG_000007.3	71008
1119	CD 95 AAG>GAG (Hb Hopkins-I, Hb Jenkins, Hb N-Memphis, Hb Kenwood)	Hb N-Baltimore	HBB:c.286A>G	β	Causative	β-chain variant	NG_000007.3	71010
2545	CD 95 AAG>CAG [Lys>Gln]	Hb J-Valencia	HBB:c.286A>C	β	Causative	β-chain variant	NG_000007.3	71010
1120	CD 95 AAG>ATG	Hb J-Cordoba	HBB:c.287A>T	β	Causative	β-chain variant	NG_000007.3	71011
1121	CD 95 AAG>AAY [Lys>Asn]	Hb Detroit	HBB:c.288G>Y	β	Causative	β-chain variant	NG_000007.3	71012
3776	CD 95 AAG>AAA [Lys>Lys]	N/A	HBB:c.288G>A	β	Neutral	N/A	NG_000007.3	71012
1122	CD 96 CTG>GTG	Hb Regina	HBB:c.289C>G	β	Causative	β-chain variant	NG_000007.3	71013
1123	CD 96 CTG>CCG	Hb Debrousse	HBB:c.290T>C	β	Causative	β-chain variant	NG_000007.3	71014
3876	CD 96 CTG>CGG [Leu>Arg]	Hb Laibin	HBB:c.290T>G	β	Causative	β-chain variant	NG_000007.3	71014
1126	CD 97 CAC>TAC	Hb Moriguchi	HBB:c.292C>T	β	Causative	β-chain variant	NG_000007.3	71016
1127	CD 97 CAC>AAC	Hb Santa Clara	HBB:c.292C>A	β	Causative	β-chain variant	NG_000007.3	71016
1128	CD 97 CAC>CTC	Hb Wood	HBB:c.293A>T	β	Causative	β-chain variant	NG_000007.3	71017
1129	CD 97 CAC>CCC	Hb Nagoya	HBB:c.293A>C	β	Causative	β-chain variant	NG_000007.3	71017
1130	CD 97 CAC>CAA, also CAC>CAG	Hb Malmö	HBB:c.294C>A \| HBB:c.294C>G	β	Causative	β-chain variant	NG_000007.3	71018
1131	CD 98 GTG>ATG [Val>Met] (Hb San Francisco (Pacific), Hb Ube-1)	Hb Köln	HBB:c.295G>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71019
2413	CD 98 GTG>CTG [Val>Leu]	Hb Phou Bia	HBB:c.295G>C	β	Causative	β-chain variant	NG_000007.3	71019
1132	CD 98 GTG>GGG	Hb Nottingham	HBB:c.296T>G	β	Causative	β-chain variant	NG_000007.3	71020
1133	CD 98 GTG>GAG [Val>Glu]	Hb Mainz	HBB:c.296T>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71020
1134	CD 98 GTG>GCG	Hb Djelfa	HBB:c.296T>C	β	Causative	β-chain variant	NG_000007.3	71020
1135	CD 99 GAT>TAT	Hb Ypsilanti	HBB:c.298G>T	β	Causative	β-chain variant	NG_000007.3	71022
1136	CD 99 GAT>CAT	Hb Yakima	HBB:c.298G>C	β	Causative	β-chain variant	NG_000007.3	71022
1137	CD 99 GAT>AAT	Hb Kempsey	HBB:c.298G>A	β	Causative	β-chain variant	NG_000007.3	71022
1138	CD 99 GAT>GGT	Hb Hotel-Dieu	HBB:c.299A>G	β	Causative	β-chain variant	NG_000007.3	71023
1139	CD 99 GAT>GCT	Hb Radcliffe	HBB:c.299A>C	β	Causative	β-chain variant	NG_000007.3	71023
1140	CD 99 GAT>GTT	Hb Chemilly	HBB:c.299A>T	β	Causative	β-chain variant	NG_000007.3	71023
1141	CD 99 GAT>GAA [Asp>Glu]	Hb Coimbra	HBB:c.300T>A	β	Causative	β-chain variant	NG_000007.3	71024
1142	CD 100 CCT>GCT [Pro>Ala]	Hb Nice	HBB:c.301C>G	β	Causative	β-chain variant	NG_000007.3	71025
2399	CD 100 CCT>ACT [Pro>Thr]	Hb Bellevue II	HBB:c.301C>A	β	Causative	β-chain variant	NG_000007.3	71025
2412	CD 100 CCT>TCT [Pro>Ser]	Hb Niort	HBB:c.301C>T	β	Causative	β-chain variant	NG_000007.3	71025
1143	CD 100 CCT>CGT	Hb New Mexico	HBB:c.302C>G	β	Causative	β-chain variant	NG_000007.3	71026
1144	CD 100 CCT>CTT	Hb Brigham	HBB:c.302C>T	β	Causative	β-chain variant	NG_000007.3	71026
1145	CD 101 GAG>CAG	Hb Rush	HBB:c.304G>C	β	Causative	β-chain variant	NG_000007.3	71028
1146	CD 101 GAG>AAG	Hb British Columbia	HBB:c.304G>A	β	Causative	β-chain variant	NG_000007.3	71028
1147	CD 101 GAG>GGG	Hb Alberta	HBB:c.305A>G	β	Causative	β-chain variant	NG_000007.3	71029
1148	CD 101 GAG>GCG	Hb Youngstown \| Hb St Mary's	HBB:c.305A>C	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71029
2432	CD 101 GAG>GTG [Glu>Val]	Hb Belfort	HBB:c.305A>T	β	Causative	β-chain variant	NG_000007.3	71029
1149	CD 101 GAG>GAC or GAT	Hb Potomac	HBB:c.306G>C \| HBB:c.306G>T	β	Causative	β-chain variant	NG_000007.3	71030
1150	CD 102 AAC>TAC	Hb Saint Mandé	HBB:c.307A>T	β	Causative	β-chain variant	NG_000007.3	71031
1151	CD 102 AAC>CAC [Asn>His]	Hb Canebiere	HBB:c.307A>C	β	Causative	β-chain variant	NG_000007.3	71031
1152	CD 102 AAC>AGC	Hb Beth Israel	HBB:c.308A>G	β	Causative	β-chain variant	NG_000007.3	71032
1153	CD 102 AAC>ACC [Asn>Thr] (Hb Reissmann)	Hb Kansas	HBB:c.308A>C	β	Causative	β-chain variant	NG_000007.3	71032
1154	CD 102 AAC>AAA or AAG	Hb Richmond	HBB:c.309C>A \| HBB:c.309C>G	β	Causative	β-chain variant	NG_000007.3	71033
1155	CD 103 TTC>GTC	Hb Sparta	HBB:c.310T>G	β	Causative	β-chain variant	NG_000007.3	71034
1156	CD 103 TTC>ATC	Hb Saint Nazaire	HBB:c.310T>A	β	Causative	β-chain variant	NG_000007.3	71034
4114	CD 103 TTC>TCC [Phe>Ser]	Hb Koskullskulle	HBB:c.311T>C	β	Causative	β-chain variant	NG_000007.3	71035
3385	CD 103 TTC>TAC [Phe>Tyr]	Hb Gavle	HBB:c.311T>A	β	Causative	β-chain variant	NG_000007.3	71035
1157	CD 103 TTC>TTG	Hb Heathrow	HBB:c.312C>G	β	Causative	β-chain variant	NG_000007.3	71036
1158	CD 104 AGG>TGG	Hb Sainte Eugénie	HBB:c.313A>T	β	Causative	β-chain variant	NG_000007.3	71037
2406	CD 104 AGG>GGG [Arg>Gly]	Hb Nîmes	HBB:c.313A>G	β	Causative	β-chain variant	NG_000007.3	71037
2411	CD 104 AGG>ATG [Arg>Met]	Hb Bad Salzuflen	HBB:c.314G>T	β	Causative	β-chain variant	NG_000007.3	71038
1159	CD 104 AGG>ACG	Hb Sherwood Forest	HBB:c.314G>C	β	Causative	β-chain variant	NG_000007.3	71038
1161	CD 104 AGG>AAG	Hb Alzette	HBB:c.314G>A	β	Causative	β-chain variant	NG_000007.3	71038
1162	CD 104 AGG>AGC [Arg>Ser]	Hb Camperdown	HBB:c.315G>C	β	Causative	β-chain variant	NG_000007.3	71039
200	IVS II-1 G>A	N/A	HBB:c.315+1G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71040
201	IVS II-1 G>C	N/A	HBB:c.315+1G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71040
202	IVS II-1 G>T	N/A	HBB:c.315+1G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71040
3226	IVS II-2 T>G	N/A	HBB:c.315+2T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71041
203	IVS II-2 T>C	N/A	HBB:c.315+2T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71041
204	IVS II-2 (T>A)	N/A	HBB:c.315+2T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71041
208	IVS II-5 (G>C)	N/A	HBB:c.315+5G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71044
3677	IVS II-15 (C>T)	N/A	HBB:c.315+15C>T	β	Causative	β-thalassaemia	NG_000007.3	71054
3576	rs10768683 (IVS II-16 G>C, HBB:c.315+16G>C)	N/A	NG_000007.3:g.71055G>C	β	Neutral	N/A	NG_000007.3	71055
3775	IVS II-26 (T>G)	N/A	HBB:c.315+26T>G	β	Neutral	N/A	NG_000007.3	71065
2053	IVS II-26 T>G	N/A	NG_000007.3:g.71065T>G	β	Neutral	N/A	NG_000007.3	71065
3678	IVS II-45 (A>G)	N/A	HBB:c.315+45A>G	β	Causative	β-thalassaemia	NG_000007.3	71084
3681	IVS II-63 (T>C)	N/A	HBB:c.315+63T>C	β	Causative	β-thalassaemia	NG_000007.3	71102
3680	IVS II-70 (G>A)	N/A	HBB:c.315+70G>A	β	Causative	β-thalassaemia	NG_000007.3	71109
3774	IVS II-70 (G>C)	N/A	HBB:c.315+70G>C	β	Neutral	N/A	NG_000007.3	71109
2054	IVS II-74 T>G	N/A	HBB:c.315+74T>G	β	Neutral	N/A	NG_000007.3	71113
3011	IVS II-81 (C>T)	N/A	HBB:c.315+81C>T	β	Neutral	N/A	NG_000007.3	71120
3679	IVS II-129 (G>A)	N/A	HBB:c.315+129G>A	β	Causative	β-thalassaemia	NG_000007.3	71168
3977	IVS II-132 G>C	N/A	HBB:c.315+132G>C	β	Causative	β-thalassaemia	NG_000007.3	71171
4040	IVS II-143 G>A	N/A	HBB:c.315+143G>A	β	Causative	β-thalassaemia	NG_000007.3	71182
3633	IVS II-144 T>A	N/A	HBB:c.315+144T>A	β	Neutral	N/A	NG_000007.3	71183
3682	IVS II-180 (T>C)	N/A	HBB:c.315+180T>C	β	Causative	β-thalassaemia	NG_000007.3	71219
3634	IVS II-202 T>A	N/A	HBB:c.315+202T>A	β	Neutral	N/A	NG_000007.3	71241
3012	IVS II-255 T>C	N/A	HBB:c.315+255T>C	β	Neutral	N/A	NG_000007.3	71294
2055	IVS II-260 A>G	N/A	NG_000007.3:g.71299A>G	β	Neutral	N/A	NG_000007.3	71299
4046	IVS II-337 A>G	N/A	HBB:c.315+337A>G	β	Causative	β-thalassaemia	NG_000007.3	71376
2495	IVS II-478 C>A	N/A	HBB:c.316-373C>A	β	Neutral	N/A	NG_000007.3	71517
3446	IVS II-579 G>T	N/A	HBB:c.316-272G>T	β	Neutral	N/A	NG_000007.3	71618
3582	IVS II-579 G>C	N/A	HBB:c.316-272G>C	β	Neutral	N/A	NG_000007.3	71618
210	IVS II-613 (C>T)	N/A	HBB:c.316-238C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71652
3013	IVS II-643 (C>G)	N/A	HBB:c.316-208C>G	β	Neutral	N/A	NG_000007.3	71682
211	IVS II-654 C>T	N/A	HBB:c.316-197C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71693
2056	IVS II-666 (C>T)	N/A	HBB:c.316-185C>T	β	Neutral	N/A	NG_000007.3	71705
3773	IVS II-667 (T>C)	N/A	HBB:c.316-184T>C	β	Neutral	N/A	NG_000007.3	71706
3686	IVS II-672 (A>C)	N/A	HBB:c.316-179A>C	β	Causative	β-thalassaemia	NG_000007.3	71711
212	IVS II-705 (T>G)	N/A	HBB:c.316-146T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71744
213	IVS II-726 A>G	N/A	HBB:c.316-125A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71765
214	IVS II-745 C>G	N/A	HBB:c.316-106C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71784
3928	IVS II-752 T>G	N/A	HBB:c.316-99T>G	β	Causative	β-thalassaemia	NG_000007.3	71791
215	IVS II-761 A>G	N/A	HBB:c.316-90A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71800
2183	IVS II-781 C>G	N/A	HBB:c.316-70C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71820
4088	IVS II-786 T>A	N/A	HBB:c.316-65T>A	β	Causative	β-thalassaemia	NG_000007.3	71825
3687	IVS II-806 (G>C)	N/A	HBB:c.316-45G>C	β	Causative	β-thalassaemia	NG_000007.3	71845
3772	IVS II-814 (G>T)	N/A	HBB:c.316-37G>T	β	Neutral	N/A	NG_000007.3	71853
216	IVS II-815 (C>T)	N/A	HBB:c.316-36C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71854
3558	IVS II-821 (A>C)	N/A	HBB:c.316-30A>C	β	Causative	β-thalassaemia	NG_000007.3	71860
217	IVS II-837 (T>G)	N/A	HBB:c.316-14T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71876
218	IVS II-843 (T>G)	N/A	HBB:c.316-8T>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71882
219	IVS II-844 (C>A)	N/A	HBB:c.316-7C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71883
220	IVS II-844 (C>G)	N/A	HBB:c.316-7C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71883
221	IVS II-848 (C>A)	N/A	HBB:c.316-3C>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71887
222	IVS II-848 (C>G)	N/A	HBB:c.316-3C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71887
223	IVS II-849 (A>G)	N/A	HBB:c.316-2A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71888
224	IVS II-849 (A>C)	N/A	HBB:c.316-2A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71888
225	IVS II-850 G>C	N/A	HBB:c.316-1G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71889
226	IVS II-850 (G>A)	N/A	HBB:c.316-1G>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71889
227	IVS II-850 (G>T)	N/A	HBB:c.316-1G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71889
1163	CD 105 CTC>TTC	Hb South Milwaukee	HBB:c.316C>T	β	Causative	β-chain variant	NG_000007.3	71890
4100	CD 105 CTC>GTC [Leu>Val]	Hb Odder	HBB:c.316C>G	β	Causative	β-chain variant	NG_000007.3	71890
2379	CD 6 GAG>GTG [Glu>Val] AND CD 105 CTC>CCC [Leu>Pro]	Hb S-San Martin	HBB:c.[20A>T ;317T>C]	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71891
2404	CD 105 CTC>CCC [Leu>Pro]	Hb Bellevue IV	HBB:c.317T>C	β	Causative	β-chain variant	NG_000007.3	71891
229	CD 106 (CTG >GTG) Leu to Val (Hb Federico II)	Hb L'Aquila	HBB:c.319C>G	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71893
230	CD 106 CTG>CGG [Leu>Arg]	Hb Terre Haute	HBB:c.320T>G	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71894
1166	CD 106 CTG>CCG [Leu>Pro] (Hb Casper)	Hb Southampton	HBB:c.320T>C	β	Causative	β-chain variant	NG_000007.3	71894
1167	CD 106 CTG>CAG	Hb Tübingen	HBB:c.320T>A	β	Causative	β-chain variant	NG_000007.3	71894
1168	CD 107 GGC>CGC	Hb Burke	HBB:c.322G>C	β	Causative	β-chain variant	NG_000007.3	71896
1169	CD 107 GGC>GAC	Hb Lulu Island	HBB:c.323G>A	β	Causative	β-chain variant	NG_000007.3	71897
3309	CD 107 GGC>GTC [Gly>Val]	Hb Nurnberg	HBB:c.323G>T	β	Causative	β-chain variant	NG_000007.3	71897
1170	CD 108 AAC>GAC	Hb Yoshizuka	HBB:c.325A>G	β	Causative	β-chain variant	NG_000007.3	71899
1171	CD 108 AAC>CAC [Asn>His]	Hb Shizuoka	HBB:c.325A>C	β	Causative	β-chain variant	NG_000007.3	71899
1172	CD 108 AAC>ATC	Hb Schlierbach	HBB:c.326A>T	β	Causative	β-chain variant	NG_000007.3	71900
1173	CD 108 AAC>AGC [Asn>Ser] (Hb Serres)	Hb Santa Juana	HBB:c.326A>G	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71900
1174	CD 108 AAC>AAA or AAG	Hb Presbyterian	HBB:c.327C>A \| HBB:c.327C>G	β	Causative	β-chain variant	NG_000007.3	71901
1176	CD 109 GTG>CTG or TTG	Hb Johnstown	HBB:c.328G>C \| HBB:c.328G>T	β	Causative	β-chain variant	NG_000007.3	71902
1177	CD 109 GTG>ATG	Hb San Diego	HBB:c.328G>A	β	Causative	β-chain variant	NG_000007.3	71902
234	CD 110 CTG>CCG [Leu>Pro]	Hb Showa-Yakushiji	HBB:c.332T>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71906
3384	CD 110 CTG>CGG [Leu>Arg]	Hb London-Ontario	HBB:c.332T>G	β	Causative	β-chain variant	NG_000007.3	71906
1179	CD 111 GTC>CTC, CD 119 GGC>GAC	Hb Fannin-Lubbock II	HBB:c.[334G>C;359G>A]	β	Causative	β-chain variant	NG_000007.3	71908
1180	CD 111 GTC>TTC [Val>Phe]	Hb Peterborough	HBB:c.334G>T	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71908
1181	CD 111 GTC>GCC [Val>Ala]	Hb Stanmore	HBB:c.335T>C	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71909
3001	CD 111 GTC>GGC [Val>Gly]	Hb Belluno	HBB:c.335T>G	β	Causative	β-chain variant	NG_000007.3	71909
4075	CD 111/112 (+C)	N/A	HBB:c.336dup	β	Causative	β-thalassaemia	NG_000007.3	71910
2434	CD 112 TGT>GGT [Cys>Gly]	Hb Saint-Marcellin	HBB:c.337T>G	β	Causative	β-chain variant	NG_000007.3	71911
1182	CD 112 TGT>CGT [Cys>Arg]	Hb Indianapolis	HBB:c.337T>C	β	Causative	β-chain variant	NG_000007.3	71911
1183	CD 112 TGT>TTT	Hb Canterbury	HBB:c.338G>T	β	Causative	β-chain variant	NG_000007.3	71912
1184	CD 112 TGT>TAT	Hb Yahata	HBB:c.338G>A	β	Causative	β-chain variant	NG_000007.3	71912
4105	CD112 TGT>TCT [Cys>Ser]	Hb Jiangxi	HBB:c.338G>C	β	Causative	β-chain variant	NG_000007.3	71912
235	CD 112 (TGT>TGA)	N/A	HBB:c.339T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71913
1185	CD 112 TGT>TGG	Hb Toranomon	HBB:c.339T>G	β	Causative	β-chain variant	NG_000007.3	71913
1186	CD 113 GTG>CTG or TTG [Val>Leu]	Hb Champagne	HBB:c.340G>C \| HBB:c.340G>T	β	Causative	β-chain variant	NG_000007.3	71914
1187	CD 113 GTG>GAG [Val>Glu] (Hb Kaohsiung)	Hb New York	HBB:c.341T>A	β	Causative	β-chain variant	NG_000007.3	71915
1188	CD 114 CTG>ATG; CD 119 GGC>GAC	Hb Masuda	HBB:c.[343C>A;359G>A]	β	Causative	β-chain variant	NG_000007.3	71917
1190	CD 114 CTG>ATG	Hb Zengcheng	HBB:c.343C>A	β	Causative	β-chain variant	NG_000007.3	71917
237	CD 114 CTG>CCG [Leu>Pro] (Hb Brescia)	Hb Durham-N.C.	HBB:c.344T>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71918
1192	CD 115 GCC>CCC	Hb Madrid	HBB:c.346G>C	β	Causative	β-chain variant	NG_000007.3	71920
3750	CD 115 GCC>ACC [Ala>Thr]	N/A	HBB:c.346G>A	β	Causative	β-thalassaemia	NG_000007.3	71920
239	CD 115 (GCC>GAC) Ala to Asp	Hb Hradec Kralove (HK)	HBB:c.347C>A	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71921
1193	CD 115 GCC>GTC [Ala>Val]	Hb Roma	HBB:c.347C>T	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71921
1196	CD 116 CAT>TAT	Hb Rhode Island	HBB:c.349C>T	β	Causative	β-chain variant	NG_000007.3	71923
1197	CD 116 CAT>CCT [His>Pro]	Hb Miami	HBB:c.350A>C	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71924
1198	CD 116 CAT>CGT [His>Ala]	Hb Sfax	HBB:c.350A>G	β	Causative	β-chain variant	NG_000007.3	71924
1199	CD 116 CAT>CTT	Hb Vexin	HBB:c.350A>T	β	Causative	β-chain variant	NG_000007.3	71924
1200	CD 116 CAT>CAA or CAG	Hb Hafnia	HBB:c.351T>A \| HBB:c.351T>G	β	Causative	β-chain variant	NG_000007.3	71925
1201	CD 117 CAC>AAC	Hb Brent	HBB:c.352C>A	β	Causative	β-chain variant	NG_000007.3	71926
1202	CD 117 CAC>TAC	Hb Tsukumi	HBB:c.352C>T	β	Causative	β-chain variant	NG_000007.3	71926
1203	CD 117 CAC>GAC [His>Asp]	Hb North York	HBB:c.352C>G	β	Causative	β-chain variant	NG_000007.3	71926
1204	CD 117 CAC>CGC	Hb P-Galveston	HBB:c.353A>G	β	Causative	β-chain variant	NG_000007.3	71927
1205	CD 117 CAC>CCC	Hb Saitama	HBB:c.353A>C	β	Causative	β-chain variant	NG_000007.3	71927
3651	CD 117 CAC>CAG [His>Gln]	Hb Murcia	HBB:c.354C>G	β	Causative	β-chain variant	NG_000007.3	71928
1207	CD 118 TTT>GTT	Hb Sodertalje	HBB:c.355T>G	β	Causative	β-chain variant	NG_000007.3	71929
1208	CD 118 TTT>TGT	Hb Harrow	HBB:c.356T>G	β	Causative	β-chain variant	NG_000007.3	71930
1209	CD 118 TTT>TAT	Hb Minneapolis-Laos	HBB:c.356T>A	β	Causative	β-chain variant	NG_000007.3	71930
2334	CD 118 TTT>TCT [Phe>Ser]	Hb Basingstoke	HBB:c.356T>C	β	Causative	β-chain variant	NG_000007.3	71930
2410	CD 119 GGC>CGC [Gly>Arg]	Hb Angouleme	HBB:c.358G>C	β	Causative	β-chain variant	NG_000007.3	71932
2490	CD 119 GGC>AGC [Gly>Ser]	Hb Madison-NC	HBB:c.358G>A	β	Causative	β-chain variant	NG_000007.3	71932
1210	CD 119 GGC>GAC [Gly>Asp]	Hb Fannin-Lubbock I	HBB:c.359G>A	β	Causative	β-chain variant	NG_000007.3	71933
1211	CD 119 GGC>GTC	Hb Bougardirey-Mali	HBB:c.359G>T	β	Causative	β-chain variant	NG_000007.3	71933
1212	CD 119 GGC>GCC	Hb Iowa	HBB:c.359G>C	β	Causative	β-chain variant	NG_000007.3	71933
1213	CD 120 AAA>GAA	Hb Hijiyama	HBB:c.361A>G	β	Causative	β-chain variant	NG_000007.3	71935
1214	CD 120 AAA>CAA	Hb Takamatsu	HBB:c.361A>C	β	Causative	β-chain variant	NG_000007.3	71935
1215	CD 120 AAA>ATA	Hb Jianghua	HBB:c.362A>T	β	Causative	β-chain variant	NG_000007.3	71936
1216	CD 120 AAA>AAC	Hb Riyadh	HBB:c.363A>C	β	Causative	β-chain variant	NG_000007.3	71937
2973	CD 120 AAA>AAT [Lys>Asn]	Hb Belsize Park	HBB:c.363A>T	β	Causative	β-chain variant	NG_000007.3	71937
244	CD 121 GAA>TAA (120aa)	N/A	HBB:c.364G>T	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71938
1217	CD 121 GAA>CAA [Glu>Gln] (Hb D-Chicago, Hb D-North Carolina, Hb D-Portugal, Hb D-Los Angeles, Hb Oak Ridge)	Hb D-Punjab	HBB:c.364G>C	β	Causative	β-chain variant	NG_000007.3	71938
1218	CD 121 GAA>AAA (Hb Egypt, Hb O-Thrace)	Hb O-Arab	HBB:c.364G>A	β	Causative	β-chain variant	NG_000007.3	71938
1219	CD 121 GAA>GCA	Hb D-Neath	HBB:c.365A>C	β	Causative	β-chain variant	NG_000007.3	71939
1220	CD 121 GAA>GGA	Hb St. Francis	HBB:c.365A>G	β	Causative	β-chain variant	NG_000007.3	71939
1221	CD 121 GAA>GTA	Hb Beograd	HBB:c.365A>T	β	Causative	β-chain variant	NG_000007.3	71939
3934	CD 121 GAA>GAC [Glu>Asp]	Hb Westport	HBB:c.366A>C	β	Causative	β-chain variant	NG_000007.3	71940
1015	CD 65 AAG>ATG; CD 122 TTC>CTC or TTG or TTA	Hb Casablanca	HBB:c.[367T>C ; 197A>T] \| HBB:c.[369C>A ; 197A>T] \| HBB:c.[369C>G; 197A>T]	β	Causative	β-chain variant	NG_000007.3	71941
1222	CD 122 TTC>CTC or TTG or TTA	Hb Bushey	HBB:c.367T>C \| HBB:c.369C>A \| HBB:c.369C>G	β	Causative	β-chain variant	NG_000007.3	71941
1223	CD 122 TTC>TCC [Phe>Ser]	Hb Caruaru	HBB:c.368T>C	β	Causative	β-chain variant	NG_000007.3	71942
4022	CD 122 TTC>TGC [Phe>Cys]	Hb Tanah Merah	HBB:c.368T>G	β	Causative	β-chain variant	NG_000007.3	71942
2058	CD 122 TTT>TTC [Phe>Phe]	N/A	NG_000007.3:g.71943C>T	β	Neutral	N/A	NG_000007.3	71943
1225	CD 123 ACC>AAC	Hb Ernz	HBB:c.371C>A	β	Causative	β-chain variant	NG_000007.3	71945
1226	CD 123 ACC>ATC	Hb Villejuif	HBB:c.371C>T	β	Causative	β-chain variant	NG_000007.3	71945
1227	CD 124 CCA>TCA	Hb Tunis	HBB:c.373C>T	β	Causative	β-chain variant	NG_000007.3	71947
3556	CD 124 CCA>ACA [Pro>Thr] (Hb Yuxi)	Hb Gibbon	HBB:c.373C>A	β	Causative	β-chain variant	NG_000007.3	71947
1228	CD 124 CCA>CAA	Hb Ty Gard	HBB:c.374C>A	β	Causative	β-chain variant	NG_000007.3	71948
1229	CD 124 CCA>CTA	Hb Tende	HBB:c.374C>T	β	Causative	β-chain variant	NG_000007.3	71948
1230	CD 124 CCA>CGA [Pro>Arg]	Hb Khartoum	HBB:c.374C>G	β	Causative	β-chain variant	NG_000007.3	71948
3313	CD 125 CCA>ACA [Pro>Thr]	Hb Novara	HBB:c.376C>A	β	Causative	β-chain variant	NG_000007.3	71950
3563	CD 126 GTG>-TG	N/A	HBB:c.379delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71953
1231	CD 126 GTG>CTG	Hb Molfetta	HBB:c.379G>C	β	Causative	β-chain variant	NG_000007.3	71953
1233	CD 126 GTG>GCG	Hb Beirut	HBB:c.380T>C	β	Causative	β-chain variant	NG_000007.3	71954
1234	CD 126 GTG>GAG	Hb Hofu	HBB:c.380T>A	β	Causative	β-chain variant	NG_000007.3	71954
1235	CD 126 GTG>GGG [Val>Gly] (Hb Neapolis)	Hb Dhonburi	HBB:c.380T>G	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71954
255	CD 127 CAG>TAG [Gln>STOP]	N/A	HBB:c.382C>T	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71956
1236	CD 127 CAG>AAG	Hb Brest	HBB:c.382C>A	β	Causative	β-chain variant	NG_000007.3	71956
1237	CD 127 CAG>GAG	Hb Complutense	HBB:c.382C>G	β	Causative	β-chain variant	NG_000007.3	71956
253	CD 127 (CAG>CCG) Gln to Pro	Hb Houston	HBB:c.383A>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71957
254	CD 127 CAG>CGG [Gln>Arg]	Hb Dieppe	HBB:c.383A>G	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71957
1241	CD 128 GCT>CCT	Hb Mont Saint Aignan	HBB:c.385G>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71959
1242	CD 128 GCT>GTT	Hb Sitia	HBB:c.386C>T	β	Causative	β-chain variant	NG_000007.3	71960
1243	CD 128 GCT>GAT [Ala>Asp]	Hb J-Guantanamo	HBB:c.386C>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71960
1244	CD 129 GCC>CCC	Hb Crete	HBB:c.388G>C	β	Causative	β-chain variant	NG_000007.3	71962
1245	CD 129 GCC>GTC [Ala>Val]	Hb La Desirade	HBB:c.389C>T	β	Causative	β-chain variant	NG_000007.3	71963
1246	CD 129 GCC>GAC [Ala>Asp] (Hb K-Cameroon)	Hb J-Taichung	HBB:c.389C>A	β	Causative	β-chain variant	NG_000007.3	71963
1248	CD 130 TAT>GAT	Hb Wien	HBB:c.391T>G	β	Causative	β-chain variant	NG_000007.3	71965
1249	CD 130 TAT>TGT [Tyr>Cys]	Hb Montfermeil	HBB:c.392A>G	β	Causative	β-chain variant	NG_000007.3	71966
1250	CD 130 TAT>TCT	Hb Nevers	HBB:c.392A>C	β	Causative	β-chain variant	NG_000007.3	71966
2196	CD 130 TAT>TAA [Tyr>STOP]	N/A	HBB:c.393T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71967
3860	CD 130 TAT>TAG [Tyr>STOP]	N/A	HBB:c.393T>G	β	Causative	β-thalassaemia	NG_000007.3	71967
258	CD 131 (CAG>TAG)	N/A	HBB:c.394C>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71968
1251	CD 131 CAG>GAG	Hb Camden	HBB:c.394C>G	β	Causative	β-chain variant	NG_000007.3	71968
1252	CD 131 CAG>AAG	Hb Shelby	HBB:c.394C>A	β	Causative	β-chain variant	NG_000007.3	71968
1253	CD 131 CAG>CGG	Hb Sarrebourg	HBB:c.395A>G	β	Causative	β-chain variant	NG_000007.3	71969
1254	CD 131 CAG>CCG	Hb Shanghai	HBB:c.395A>C	β	Causative	β-chain variant	NG_000007.3	71969
1255	CD 131 CAG>CAC	Hb Silver Springs	HBB:c.396G>C	β	Causative	β-chain variant	NG_000007.3	71970
262	CD 132 (AAA>TAA)	N/A	HBB:c.397A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71971
1256	CD 132 AAA>GAA [Lys>Glu]	Hb Takasago	HBB:c.397A>G	β	Causative	β-chain variant	NG_000007.3	71971
1257	CD 132 AAA>CAA [Lys>Gln]	Hb K Woolwich	HBB:c.397A>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71971
1258	CD 132 AAA>ACA	Hb Cook	HBB:c.398A>C	β	Causative	β-chain variant	NG_000007.3	71972
1259	CD 132 AAA>AAC, also AAA>AAT	Hb Yamagata	HBB:c.399A>C \| HBB:c.399A>T	β	Causative	β-chain variant	NG_000007.3	71973
1260	CD 133 GTG>CTG	Hb Extremadura	HBB:c.400G>C	β	Causative	β-chain variant	NG_000007.3	71974
1261	CD 133 GTG>ATG [Val>Met]	Hb La Pommeraie	HBB:c.400G>A	β	Causative	β-chain variant	NG_000007.3	71974
3375	CD 133 GTG>TTG [Val>Leu]	Hb Miringa	HBB:c.400G>T	β	Causative	β-chain variant	NG_000007.3	71974
1262	CD 133 GTG>GCG	Hb Renert	HBB:c.401T>C	β	Causative	β-chain variant	NG_000007.3	71975
3784	CD 133 GTG>GTC [Val>Val]	N/A	HBB:c.402G>C	β	Neutral	N/A	NG_000007.3	71976
2389	CD 134 GTG>GGG [Val>Gly]	Hb Olupona	HBB:c.404T>G	β	Causative	β-chain variant	NG_000007.3	71978
1263	CD 134 GTG>GCG	Hb Yaounde	HBB:c.404T>C	β	Causative	β-chain variant	NG_000007.3	71978
1264	CD 134 GTG>GAG	Hb North Shore	HBB:c.404T>A	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71978
1265	CD 135 GCT>CCT [Ala>Pro]	Hb Altdorf	HBB:c.406G>C	β	Causative	β-chain variant	NG_000007.3	71980
2537	CD 135 GCT>ACT [Ala>Thr]	Hb Calvino	HBB:c.406G>A	β	Causative	β-chain variant	NG_000007.3	71980
1266	CD 135 GCT>GAT [Ala>Asp]	Hb Beckman	HBB:c.407C>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71981
1267	CD 135 GCT>GTT [Ala>Val]	Hb Alperton	HBB:c.407C>T	β	Causative	β-chain variant	NG_000007.3	71981
1268	CD 136 GGT>TGT [Gly>Cys]	Hb Visayan	HBB:c.409G>T	β	Causative	β-chain variant	NG_000007.3	71983
1269	CD 136 GGT>AGT [Gly>Ser]	Hb Perpignan	HBB:c.409G>A	β	Causative	β-chain variant	NG_000007.3	71983
1270	CD 136 GGT>CGT	Hb 'tlangeland	HBB:c.409G>C	β	Causative	β-chain variant	NG_000007.3	71983
1271	CD 136 GGT>GCT [Gly>Ala]	Hb Petit Bourg	HBB:c.410G>C	β	Causative	β-chain variant	NG_000007.3	71984
1272	CD 136 GGT>GAT	Hb Hope	HBB:c.410G>A	β	Causative	β-chain variant	NG_000007.3	71984
3847	CD 136 GGT>GTT [Gly>Val]	Hb Bourg-en-Bresse	HBB:c.410G>T	β	Causative	β-chain variant	NG_000007.3	71984
3034	CD 137 GTG>TGG [Val>Trp]	Hb Allentown	HBB:c.412_413delinsTG	β	Causative	β-chain variant	NG_000007.3	71986
1274	CD 138 GCT>CCT [Ala>Pro]	Hb Brockton	HBB:c.415G>C	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71989
1275	CD 138 GCT>ACT	Hb Buzen	HBB:c.415G>A	β	Causative	β-chain variant	NG_000007.3	71989
1276	CD 138 GCT>GTT [Ala>Val]	Hb Cutlerville	HBB:c.416C>T	β	Causative	β-chain variant	NG_000007.3	71990
3361	CD 138/139 (+T)	N/A	HBB:c.417dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71991
2994	CD 139 AAT>CAT [Asn>His]	Hb Bermondsey	HBB:c.418A>C	β	Causative	β-chain variant	NG_000007.3	71992
3370	CD 140 GCC>ACC [Ala>Thr] AND CD 139 (-AAT)	Hb Templeuve	HBB:c.[421G>A;418_420delAAT]	β	Causative	β-chain variant	NG_000007.3	71992, 71995
1277	CD 139 AAT>TAT	Hb Aurora	HBB:c.418A>T	β	Causative	β-chain variant	NG_000007.3	71992
1278	CD 139 AAT>GAT	Hb Geelong	HBB:c.418A>G	β	Causative	β-chain variant	NG_000007.3	71992
1279	CD 139 AAT>TAT [Asn>Tyr]; CD 138 (-GCT) [-Ala] (Hb Nykerk)	Hb Nijkerk	HBB:c.[418A>T;415_417delGCT]	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71992
1280	CD 139 AAT>ACT	Hb Sagami	HBB:c.419A>C	β	Causative	β-chain variant	NG_000007.3	71993
3388	CD 139 AAT>AGT [Asn>Ser]	Hb Emilia	HBB:c.419A>G	β	Causative	β-chain variant	NG_000007.3	71993
1281	CD 139 AAT>AAR [Asn>Lys]	Hb Hinsdale	HBB:c.420T>R	β	Causative	β-chain variant	NG_000007.3	71994
2059	CD 139 AAT>AAC [Asn>Asn]	N/A	NG_000007.3:g.71994T>C	β	Neutral	N/A	NG_000007.3	71994
1282	CD 140 GCC>ACC	Hb Saint-Jacques	HBB:c.421G>A	β	Causative	β-chain variant	NG_000007.3	71995
1283	CD 140 GCC>GAC [Ala>Asp]	Hb Himeji	HBB:c.422C>A	β	Causative	β-chain variant	NG_000007.3	71996
1284	CD 140 GCC>GTC	Hb Puttelange	HBB:c.422C>T	β	Causative	β-chain variant	NG_000007.3	71996
1285	CD 141 CTG>GTG; CD 144 AAG>TAG	Hb Kochi	HBB:c.[424C>G;433A>T]	β	Causative	β-chain variant	NG_000007.3	71998
2284	CD 141 CTG>GGG	Hb Aurillac	HBB:c.424C>G	β	Causative	β-chain variant	NG_000007.3	71998
3980	CD 141 CTG>CCG [Leu>Pro]	Hb Yoshkar-Ola	HBB:c.425T>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia	NG_000007.3	71999
1289	CD 141 CTG>CGG	Hb Olmsted	HBB:c.425T>G	β	Causative	β-chain variant	NG_000007.3	71999
1291	CD 142 GCC>ACC	Hb Inglewood	HBB:c.427G>A	β	Causative	β-chain variant	NG_000007.3	72001
1292	CD 142 GCC>CCC	Hb Toyoake	HBB:c.427G>C	β	Causative	β-chain variant	NG_000007.3	72001
1293	CD 142 GCC>GAC	Hb Ohio	HBB:c.428C>A	β	Causative	β-chain variant	NG_000007.3	72002
2297	CD 142 GCC>GTC (Ala>Val)	Hb Waterland	HBB:c.428C>T	β	Causative	β-chain variant	NG_000007.3	72002
1295	CD 143 CAC>GAC	Hb Rancho Mirage	HBB:c.430C>G	β	Causative	β-chain variant	NG_000007.3	72004
1296	CD 143 CAC>AAC [His>Asn]	Hb Sapporo	HBB:c.430C>A	β	Causative	β-chain variant	NG_000007.3	72004
1297	CD 143 CAC>TAC	Hb Old Dominion/Burton-upon-Trent (OD/BuT)	HBB:c.430C>T	β	Causative	β-chain variant	NG_000007.3	72004
1298	CD 143 CAC>CTC [His>Leu]	Hb Vancleave	HBB:c.431A>T	β	Causative	β-chain variant	NG_000007.3	72005
1299	CD 143 CAC>CGC	Hb Abruzzo	HBB:c.431A>G	β	Causative	β-chain variant	NG_000007.3	72005
1300	CD 143 CAC>CCC	Hb Syracuse	HBB:c.431A>C	β	Causative	β-chain variant	NG_000007.3	72005
1301	CD 143 CAC>CAA or CAG [His>Gln]	Hb Little Rock	HBB:c.432C>A \| HBB:c.432C>G	β	Causative	β-chain variant	NG_000007.3	72006
3771	CD 143 CAC>CAT [His>His]	N/A	HBB:c.432C>T	β	Neutral	N/A	NG_000007.3	72006
2364	CD 144 AAG>TAG	Hb Cambridge-MA	HBB:c.433A>T	β	Causative	β-chain variant	NG_000007.3	72007
1303	CD 144 AAG>GAG	Hb Mito	HBB:c.433A>G	β	Causative	β-chain variant	NG_000007.3	72007
1304	CD 144 AAG>ATG	Hb Barbizon	HBB:c.434A>T	β	Causative	β-chain variant	NG_000007.3	72008
2961	CD 144 AAG>ACG [Lys>Thr]	Hb San Cataldo	HBB:c.434A>C	β	Causative	β-chain variant	NG_000007.3	72008
3325	CD 144 AAG>AGG [Lys>Arg]	Hb Heze	HBB:c.434A>G	β	Causative	β-chain variant	NG_000007.3	72008
1305	CD 144 AAG>AAT or AAC	Hb Andrew-Minneapolis	HBB:c.435G>C \| HBB:c.435G>T	β	Causative	β-chain variant	NG_000007.3	72009
1307	CD 145 TAT>AAT	Hb Osler	HBB:c.436T>A	β	Causative	β-chain variant	NG_000007.3	72010
1308	CD 145 TAT>CAT	Hb Bethesda	HBB:c.436T>C	β	Causative	β-chain variant	NG_000007.3	72010
1309	CD 145 TAT>GAT	Hb Nancy	HBB:c.436T>G	β	Causative	β-chain variant	NG_000007.3	72010
1310	CD 145 TAT>TGT	Hb Rainier	HBB:c.437A>G	β	Causative	β-chain variant	NG_000007.3	72011
1311	CD 145 TAT>TAA	Hb McKees Rocks	HBB:c.438T>A	β	Causative	β-chain variant	NG_000007.3	72012
1312	CD 146 CAC>GAC	Hb Hiroshima	HBB:c.439C>G	β	Causative	β-chain variant	NG_000007.3	72013
1313	CD 146 CAC>TAC	Hb Bologna-St.Orsola	HBB:c.439C>T	β	Causative	β-chain variant	NG_000007.3	72013
3398	CD 146 CAC>AAC [His>Asn]	Hb Pusan	HBB:c.439C>A	β	Causative	β-chain variant	NG_000007.3	72013
1314	CD 146 CAC>CCC	Hb York	HBB:c.440A>C	β	Causative	β-chain variant	NG_000007.3	72014
1315	CD 146 CAC>CTC	Hb Cowtown	HBB:c.440A>T	β	Causative	β-chain variant	NG_000007.3	72014
1316	CD 146 CAC>CGC	Hb Cochin-Port Royal	HBB:c.440A>G	β	Causative	β-chain variant	NG_000007.3	72014
1317	CD 146 CAC>CAG	Hb Kodaira II	HBB:c.441C>G	β	Causative	β-chain variant	NG_000007.3	72015
1318	CD 146 CAC>CAA	Hb Kodaira	HBB:c.441C>A	β	Causative	β-chain variant	NG_000007.3	72015
3400	CD 147 TAA>CAA [Stop>Gln]	Hb Zunyi	HBB:c.442T>C	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	72016
3697	CD 147 TAA>ΑAA [Stop>Lys]	Hb Mokum	HBB:c.442T>A	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	72016
3444	CD 147 TAA>TCA [Stop>Ser]	Hb Kanagawa	HBB:c.443A>C	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	72017
4104	CD 147 TAA>ΑAC [Stop>Tyr]	N/A	HBB:c.444A>C	β	Causative	β-thalassaemia	NG_000007.3	72018
3863	3'UTR +1 G>A	N/A	HBB:c.*1G>A	β	Causative	β-thalassaemia	NG_000007.3	72019
2060	3'UTR +4 C>T (HBB:c.*4C>T, +1478 C>T)	N/A	NG_000007.3:g.72022C>T	β	Neutral	N/A	NG_000007.3	72022
267	3'UTR +6 C>G (Terminal CD +6 C>G, CAP +1480, β nt 1480 C>G)	N/A	HBB:c.*6C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72024
3688	3'UTR +21 A>G	N/A	HBB:c.*21A>G	β	Causative	β-thalassaemia	NG_000007.3	72039
2177	3'UTR +32 A>C (3'UTR +1506 (A>C), Terminal CD +32 A>C)	N/A	HBB:c.*32A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72050
268	3'UTR +47 C>G (Terminal CD +47 C>G)	N/A	HBB:c.*47C>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72065
3180	3'UTR +62 A>G	N/A	HBB:c.*62A>G	β	Causative	β-thalassaemia	NG_000007.3	72080
2061	3'UTR +67 G>T (HBB:c.*67G>T, +1541 G>T)	N/A	NG_000007.3:g.72085C>T	β	Neutral	N/A	NG_000007.3	72085
269	3'UTR -13 bp [CAP +1567 to +1579]	N/A	HBB:c.93_105delATCTGGATTCTGC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72111
3443	Cap +1570 (T>C)	N/A	HBB:c.*96T>C	β	Causative	β-thalassaemia	NG_000007.3	72114
4076	Cap +1570 (T>G)	N/A	HBB:c.*96T>G	β	Causative	β-thalassaemia	NG_000007.3	72114
2063	3'UTR +104 G>A (+1578 G>A)	N/A	HBB:c.*104G>A	β	Neutral	N/A	NG_000007.3	72122
270	Poly A (A>C) AATAAA>CATAAA	N/A	HBB:c.*108A>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72126
271	Poly A (A>G) AATAAA>GATAAA	N/A	HBB:c.*108A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72126
272	Poly A (T>C) AATAAA>AACAAA	N/A	HBB:c.*110T>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72128
273	Poly A (T>A) AATAAA>AAAAAA	N/A	HBB:c.*110T>A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72128
274	Poly A (A>G) AATAAA>AATGAA	N/A	HBB:c.*111A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72129
275	Poly A (A>G) AATAAA>AATAGA	N/A	HBB:c.*112A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72130
2198	Poly A (A>T) AATAAA>AATATA	N/A	HBB:c.*112A>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72130
276	Poly A (A>G) AATAAA>AATAAG	N/A	HBB:c.*113A>G	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72131
2564	3'UTR +118 (A>G) (3'UTR +1592 (A>G))	N/A	HBB:c.*118A>G	β	Causative	β-thalassaemia	NG_000007.3	72136
3786	3'UTR +129 T>A	N/A	HBB:c.*129T>A	β	Causative	β-thalassaemia	NG_000007.3	72147
3605	3'UTR +132 C>T	N/A	HBB:c.*132C>T	β	Causative	β-thalassaemia	NG_000007.3	72150
4018	3'UTR +132 C>G	N/A	HBB:c.*132C>G	β	Causative	β-thalassaemia	NG_000007.3	72150
2064	TTS +1 T>A (+1609 T>A, HBB:c.*135T>A)	N/A	NG_000007.3:g.72153T>A	β	Neutral	N/A	NG_000007.3	72153
3932	TTS +8 T>C (β nt +1616 T>C)	N/A	HBB:c.*142T>C	β	Causative	β-thalassaemia	NG_000007.3	72160
3931	TTS +22 G>C (β nt +1630 G>C)	N/A	HBB:c.*156G>C	β	Causative	β-thalassaemia	NG_000007.3	72174
2496	TTS +48 G>A (CAP +1656 G>A)	N/A	HBB:c.*182G>A	β	Causative	β-thalassaemia	NG_000007.3	72200
2463	TTS +99 C>C	N/A	HBB:c.*233G>C	β	Causative	β-thalassaemia	NG_000007.3	72251
3929	TTS +113 T>C (β nt + 1721 T>C)	N/A	HBB:c.*247T>C	β	Causative	β-thalassaemia	NG_000007.3	72265
3689	TTS +127 T>C	N/A	HBB:c.*261T>C	β	Causative	β-thalassaemia	NG_000007.3	72279
2816	rs10837631	N/A	NG_000007.3:g.72490A>T	β	Modifier	Hb F levels	NG_000007.3	72490
3872	rs886037864	N/A	NC_000002.12:g.60546217T>G	BCL11A	Modifier	Hb F levels	NG_011968.1	12282
3873	rs886037865	N/A	NC_000002.12:g.60546213C>A	BCL11A	Modifier	Hb F levels	NG_011968.1	12286
3874	rs886037866	N/A	NC_000002.12:g.60546158G>T	BCL11A	Modifier	Hb F levels	NG_011968.1	12341
3418	rs189984760	N/A	NG_011968.1:g.47126T>C	BCL11A	Modifier	Hb F levels	NG_011968.1	47126
3163	rs117674195	N/A	NG_011968.1:g.55290C>T	BCL11A	Modifier	Hb F levels	NG_011968.1	55290
2073	rs10184550	N/A	NG_011968.1:g.56340C>T	BCL11A	Modifier	Hb F levels, F-cell numbers	NG_011968.1	56340
2823	rs6709302	N/A	NG_011968.1:g.58005C>T	BCL11A	Modifier	Hb F levels	NG_011968.1	58005
2074	rs7606173	N/A	NG_011968.1:g.60183C>G	BCL11A	Modifier	Hb F levels, F-cell numbers	NG_011968.1	60183
3218	rs1896296	N/A	NG_011968.1:g.61547C>A	BCL11A	Modifier	Hb F levels	NG_011968.1	61547
2817	rs1896295	N/A	NG_011968.1:g.61548A>G	BCL11A	Modifier	Hb F levels	NG_011968.1	61548
3102	rs6729815	N/A	NG_011968.1:g.61962A>G	BCL11A	Modifier	Hb F levels	NG_011968.1	61962
2818	rs6738440	N/A	NG_011968.1:g.63393T>C	BCL11A	Modifier	Hb F levels	NG_011968.1	63393
2075	rs6706648	N/A	NG_011968.1:g.63594G>A	BCL11A	Modifier	Hb F levels, F-cell numbers	NG_011968.1	63594
2067	rs7557939	N/A	NG_011968.1:g.64287C>T	BCL11A	Modifier	Hb F levels, Pain, Anaemia	NG_011968.1	64287
2820	rs7584113	N/A	NG_011968.1:g.64323T>C	BCL11A	Modifier	Hb F levels	NG_011968.1	64323
2066	rs4671393	N/A	NG_011968.1:g.64683T>C	BCL11A	Modifier	Hb F levels, Acute chest syndrome, F-cell numbers	NG_011968.1	64683
2793	rs10172646	N/A	NG_011968.1:g.64877C>T	BCL11A	Modifier	Hb F levels	NG_011968.1	64877
2821	rs10195871	N/A	NG_011968.1:g.65045T>C	BCL11A	Modifier	Hb F levels	NG_011968.1	65045
2065	rs11886868	N/A	NG_011968.1:g.65388G>A	BCL11A	Modifier	Hb F levels, Pain, Anaemia	NG_011968.1	65388
2072	rs766432	N/A	NG_011968.1:g.65664G>T	BCL11A	Modifier	Hb F levels, Pain, Hb F response to hydroxyurea, F-cell numbers, Response to hydroxyurea	NG_011968.1	65664
3412	rs766431	N/A	NG_011968.1:g.65716T>C	BCL11A	Modifier	Hb F levels	NG_011968.1	65716
2822	rs1896294	N/A	NG_011968.1:g.66560G>A	BCL11A	Modifier	Hb F levels	NG_011968.1	66560
2070	rs7599488	N/A	NG_011968.1:g.67287G>A	BCL11A	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_011968.1	67287
2071	rs1427407	N/A	NG_011968.1:g.67591A>C	BCL11A	Modifier	Hb F levels, Pain, Stroke, Hb F response to hydroxyurea, Vaso-occlusive crisis, Bilirubin levels, F-cell numbers, Abnormal platelet count, Abnormal white blood cell count, Reticulocytosis, Reticulocytopenia, Anaemia	NG_011968.1	67591
3101	rs6545817	N/A	NG_011968.1:g.70455G>A	BCL11A	Modifier	Hb F levels	NG_011968.1	70455
2093	rs6545816	N/A	NG_011968.1:g.70773T>G	BCL11A	Modifier	Hb F levels, F-cell numbers, Abnormal platelet count	NG_011968.1	70773
2069	rs10189857	N/A	NG_011968.1:g.72399T>C	BCL11A	Modifier	N/A	NG_011968.1	72399
3183	rs13019832	N/A	NG_011968.1:g.75063C>T	BCL11A	Modifier	Hb F levels	NG_011968.1	75063
2068	rs6732518	N/A	NG_011968.1:g.77037G>A	BCL11A	Modifier	Hb F levels, F-cell numbers	NG_011968.1	77037
2794	rs7579014	N/A	NG_011968.1:g.77740C>T	BCL11A	Modifier	Hb F levels	NG_011968.1	77740
3165	rs7593947	N/A	NG_011968.1:g.80701T>A	BCL11A	Modifier	Hb F levels	NG_011968.1	80701
3164	rs7581162	N/A	NG_011968.1:g.81150A>T	BCL11A	Modifier	Hb F levels	NG_011968.1	81150
3416	rs12477097	N/A	NG_011968.1:g.87237T>G	BCL11A	Modifier	Hb F levels	NG_011968.1	87237
3859	rs7569946	N/A	NC_000002.12:g.60460824A>G	BCL11A	Modifier	Hb F levels	NG_011968.1	97675
2795	rs17331129	N/A	NG_011968.1:g.105692A>G	BCL11A	Modifier	Hb F levels	NG_011968.1	105692
2841	rs35786788	N/A	NC_000006.12:g.135097904G>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15
2842	rs9494145	N/A	NC_000006.12:g.135111414T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15
3331	rs1547247	N/A	NC_000006.11:g.135390836G>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15
3857	rs13220662	N/A	NC_000006.12:g.135074410G>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15
3911	rs796512567	N/A	NC_000006.12:g.135097900_135097901delinsA	HBS1L-MYB	Modifier	Hb F levels, Acute chest syndrome	NT_025741.15
3912	rs7776196	N/A	NC_000006.12:g.135097850A>G	HBS1L-MYB	Modifier	Pain	NT_025741.15
2096	rs9399137	N/A	NC_000006.12:g.135097880T>C	HBS1L-MYB	Modifier	Hb F levels, Acute chest syndrome, Pain, Abnormal platelet count, Abnormal red blood cell count	NT_025741.15
2099	rs4895441	N/A	NC_000006.12:g.135105435A>G	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15
2101	rs9402686	N/A	NC_000006.12:g.135106679G>A	HBS1L-MYB	Modifier	Hb F levels, Acute chest syndrome	NT_025741.15
2104	rs35959442	N/A	NC_000006.12:g.135103041C>G	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15
2097	rs7775698	N/A	NC_000006.12:g.135097497C>T	HBS1L-MYB	Modifier	Hb F levels, Abnormal red blood cell count	NT_025741.15	0
2098	rs9389268	N/A	NC_000006.12:g.135098493A>G	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2100	rs6929404	N/A	NC_000006.12:g.135132889C>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2102	rs1320963	N/A	NC_000006.12:g.135122074A>G	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2103	rs6904897	N/A	NC_000006.12:g.135061842T>G	HBS1L-MYB	Modifier	F-cell numbers	NT_025741.15	0
2105	rs9376090	N/A	NC_000006.12:g.135090090T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2106	rs4895440	N/A	NC_000006.12:g.135105420A>T	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2109	rs9402685	N/A	NC_000006.12:g.135098550T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2110	rs11759553	N/A	NC_000006.12:g.135101158A>T	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2111	rs6934903	N/A	NC_000006.12:g.135130426T>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2112	rs114398597	N/A	NC_000006.12:g.135107536A>G	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2837	rs9376092	N/A	NC_000006.12:g.135106006C>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2838	rs9389269	N/A	NC_000006.12:g.135106021T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2839	rs9483788	N/A	NC_000006.12:g.135114363T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2843	rs41294858	N/A	NC_000006.12:g.135091498T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2844	rs55731938	N/A	NC_000006.12:g.135093712G>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2845	rs7745098	N/A	NC_000006.12:g.135093866C>T	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2846	rs76267242	N/A	NC_000006.12:g.135096322G>T	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2847	rs11321816 (rs148201067)	N/A	NC_000006.12:g.135097900C>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2848	rs1074849	N/A	NC_000006.12:g.135102274G>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2849	rs1411919	N/A	NC_000006.12:g.135110923A>G	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2850	rs2223385	N/A	NC_000006.12:g.135114033G>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2851	rs1569534	N/A	NC_000006.12:g.135130442C>T	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3166	rs34208856	N/A	NC_000006.12:g.135099930delT	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3167	rs11356238	N/A	NC_000006.12:g.135103586delT	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3168	rs41294854	N/A	NC_000006.12:g.135080233C>T	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3169	rs56076748	N/A	NC_000006.12:g.135093071G>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3170	rs41294862	N/A	NC_000006.12:g.135098116T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3337	rs6920211	N/A	NC_000006.12:g.135110180T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3410	rs9494142 (rs11154792)	N/A	NC_000006.12:g.135110502T>C	HBS1L-MYB	Modifier	Hb F levels, F-cell numbers	NT_025741.15	0
3413	rs6913541	N/A	NC_000006.12:g.135087978A>G	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3414	rs9494139	N/A	NC_000006.12:g.135093655A>G	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3415	rs6569992	N/A	NC_000006.12:g.135131014G>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3419	rs2210366	N/A	NC_000006.12:g.135094070G>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3420	rs9376093	N/A	NC_000006.12:g.135124310C>T	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3421	rs2078213	N/A	NC_000006.12:g.135136933T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3422	rs1320959	N/A	NC_000006.12:g.135116248T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3423	rs6924609	N/A	NC_000006.12:g.135119519A>T \| NC_000006.12:g.135119519A>G	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3424	rs9483791	N/A	NC_000006.12:g.135121387T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3425	rs9376094	N/A	NC_000006.12:g.135124676T>A	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3426	rs9321485	N/A	NC_000006.12:g.135126635T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3427	rs9321486	N/A	NC_000006.12:g.135126682T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3428	rs9494149	N/A	NC_000006.12:g.135128177C>T	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3429	rs9376095	N/A	NC_000006.12:g.135129617T>C	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
3430	rs9385716	N/A	NC_000006.12:g.135134191A>G	HBS1L-MYB	Modifier	Hb F levels	NT_025741.15	0
2095	rs7776054	N/A	NC_000006.12:g.135097778A>G	HBS1L-MYB	Modifier	Anaemia	NT_025741.15	39588373
3290	rs3817621 (-251 C>G )	N/A	NG_013087.1:g.4813C>G	KLF1	Modifier	Hb F levels	NG_013087.1	4813
2346	-154 C>T	N/A	NG_013087.1:g.4910C>T	KLF1	Modifier	Hb F levels	NG_013087.1	4910
3092	-148 G>A	N/A	NG_013087.1:g.4916G>A	KLF1	Modifier	Hb F levels	NG_013087.1	4916
2514	CD 5 GAG>AAG [Glu>Lys]	N/A	NG_013087.1:g.5076G>A	KLF1	Modifier	Hb F levels	NG_013087.1	5076
2084	CD 51 (CTC>CGC)	N/A	NG_013087.1:g.6126T>G	KLF1	Modifier	Hb F levels	NG_013087.1	6126
2341	CD 58 (CAG>TAG)	N/A	NG_013087.1:g.6146C>T	KLF1	Modifier	Hb F levels	NG_013087.1	6146
3291	CD 102 TCC>CCC [Ser>Pro] (c.304T>C, p.S102P)	N/A	NG_013087.1:g.6278T>C	KLF1	Modifier	Hb F levels	NG_013087.1	6278
3485	CD 182 TTC>CTC [Phe>Leu] (rs2072596, p.F182L)	N/A	NG_013087.1:g.6518T>C	KLF1	Modifier	Hb F levels	NG_013087.1	6518
3216	rs765026103 (CD 211 CAG>CGG [Gln>Arg] , c.632 A>G)	N/A	NG_013087.1:g.6606A>G	KLF1	Modifier	Hb F levels	NG_013087.1	6606
3087	CD 217 CAG>TAG [Gln>Stop]	N/A	NG_013087.1:g.6623C>T	KLF1	Modifier	Hb F levels	NG_013087.1	6623
3088	CD223 CAG>TAG [Gln>Stop]	N/A	NG_013087.1:g.6641C>T	KLF1	Modifier	Hb F levels	NG_013087.1	6641
2515	CD 270 TCG>TGG	N/A	NG_013087.1:g.6783C>G	KLF1	Modifier	Hb F levels, Anaemia	NG_013087.1	6783
2131	CD 270 (TCG>TAG)	N/A	NG_013087.1:g.6783C>A	KLF1	Modifier	Hb F levels	NG_013087.1	6783
2557	CD 279 (CAC>CAG)	N/A	NG_013087.1:g.6811C>G	KLF1	Modifier	Hb F levels	NG_013087.1	6811
2088	CD 288 (AAG>TAG)	N/A	NG_013087.1:g.6836A>T	KLF1	Modifier	Hb F levels	NG_013087.1	6836
2345	CD 298 (GCG>CCG)	N/A	NG_013087.1:g.6866G>C	KLF1	Modifier	Hb F levels, Anaemia	NG_013087.1	6866
2512	CD 299 (CAT>GAT)	N/A	NG_013087.1:g.6869C>G	KLF1	Modifier	Hb F levels	NG_013087.1	6869
2077	CD 301 CGC>TGC [Arg>Cys] (p.R301C)	N/A	NG_013087.1:g.6875C>T	KLF1	Modifier	Hb F levels	NG_013087.1	6875
2078	CD 301 CGC>CAC [Arg>His] (p.R301H)	N/A	NG_013087.1:g.6876G>A	KLF1	Modifier	Hb F levels	NG_013087.1	6876
2083	IVS II-1 (G>A) (c.913+1 G>A)	N/A	NG_013087.1:g.6888G>A	KLF1	Modifier	Hb F levels	NG_013087.1	6888
3090	CD 307 AAG>AAC [Lys>Asn]	N/A	NG_013087.1:g.7151G>C	KLF1	Modifier	Hb F levels	NG_013087.1	7151
2079	CD 313 (TGG>TGT)	N/A	NG_013087.1:g.7169G>T	KLF1	Modifier	Hb F levels	NG_013087.1	7169
3093	CD 316 TGC>TAC [Cys>Tyr]	N/A	NG_013087.1:g.7177G>A	KLF1	Modifier	Hb F levels, Anaemia	NG_013087.1	7177
3138	CD 323 TCG>TTG [Ser>Leu] (p.Ser323Leu)	N/A	NG_013087.1:g.7198C>T	KLF1	Modifier	Hb F levels	NG_013087.1	7198
2132	CD 325 GAG>AAG [Glu>Lys] (E325K)	N/A	NG_013087.1:g.7203G>A	KLF1	Modifier	Hb F levels	NG_013087.1	7203
2293	CD 326 (GAG>AAG)	N/A	NG_013087.1:g.7207G>T	KLF1	Modifier	N/A	NG_013087.1	7207
2294	CD 327 (ACC>AGC)	N/A	NG_013087.1:g.7210C>G	KLF1	Modifier	N/A	NG_013087.1	7210
2080	CD 328 (CGC>CAC)	N/A	NG_013087.1:g.7213G>A	KLF1	Modifier	Hb F levels	NG_013087.1	7213
2081	CD 328 (CGC>CTC)	N/A	NG_013087.1:g.7213G>T	KLF1	Modifier	Hb F levels	NG_013087.1	7213
2558	CD 329 (CAC>CGC)	N/A	NG_013087.1:g.7216A>G	KLF1	Modifier	Hb F levels	NG_013087.1	7216
2343	CD 331 (CGG>TGG)	N/A	NG_013087.1:g.7221C>T	KLF1	Modifier	Hb F levels	NG_013087.1	7221
2277	CD 332 (AAA>CAA)	N/A	NG_013087.1:g.7224A>C	KLF1	Modifier	Hb F levels	NG_013087.1	7224
2082	CD 334 (ACG>AAG)	N/A	NG_013087.1:g.7231C>A	KLF1	Modifier	Hb F levels	NG_013087.1	7231
2086	CD 334 (ACG>AGG)	N/A	NG_013087.1:g.7231C>G	KLF1	Modifier	Hb F levels, Anaemia	NG_013087.1	7231
2344	CD 335 GGG>AGG	N/A	NG_013087.1:g.7233G>A	KLF1	Modifier	Hb F levels	NG_013087.1	7233
2516	CD 338 CCC>ACC [Pro>Thr]	N/A	NG_013087.1:g.7242C>A	KLF1	Modifier	N/A	NG_013087.1	7242
2513	rs483352839 (CD 341 TGC>TAC [Cys>Tyr], C341Y)	N/A	NG_013087.1:g.7252G>A	KLF1	Modifier	Hb F levels, Increased Hb A2 levels	NG_013087.1	7252
2559	CD 357 (CAC>CCC)	N/A	NG_013087.1:g.7300C>G	KLF1	Modifier	Hb F levels	NG_013087.1	7300
3089	CD 358 ATG>ATT [Met>Ile]	N/A	NG_013087.1:g.7304G>T	KLF1	Modifier	Hb F levels	NG_013087.1	7304
3149	CD 360 CGC>CAC [Arg>His]	N/A	NG_013087.1:g.7309G>A	KLF1	Modifier	Hb F levels	NG_013087.1	7309
2113	rs6530488	N/A	NG_016419.1:g.49197C>T	FRMPD4	Modifier	Hb F levels	NG_016419.1	49197
3698	rs16998911	N/A	NG_016419.1:g.49280T>C	FRMPD4	Modifier	Hb F levels, F-cell numbers	NG_016419.1	49280
2114	IVS XII-9251 G>A (rs12559632)	N/A	NG_007563.1:g.115072G>A	PHEX	Modifier	F-cell numbers	NG_007563.1	115072
2115	rs16981804	N/A	NG_007563.2:g.133649C>T	PHEX	Modifier	Hb F levels	NG_007563.1	133649
2117	rs6037828	N/A	NG_011970.1:g.40474G>A	CSNK2A1	Modifier	Hb F levels	NG_011970.1	40474
3343	rs743811	N/A	NC_000022.10:g.35792974T>C	HMOX1	Modifier	Abnormal GFR, Albuminuria	NG_023030.1
2120	-495 (A>T) (rs2071746)	N/A	NG_023030.1:g.4613A>T	HMOX1	Modifier	Hb F levels, Stroke, Vaso-occlusive crisis	NG_023030.1	4613
2788	rs12160039	N/A	NG_023030.1:g.18226T>A, NG_023030.1:g.18226T>C	HMOX1	Modifier	Acute chest syndrome	NG_023030.1	18226
2129	rs708564	N/A	NG_023386.1:g.16553C>T	CD81	Modifier	Red blood cell alloimmunisation	NG_023386.1	16553
2130	rs2237863	N/A	NG_023386.1:g.19251T>C	CD81	Modifier	Red blood cell alloimmunisation	NG_023386.1	19251
2118	rs4969555	N/A	NG_016387.1:g.6517A>G	EIF2S3	Modifier	Hb F levels	NG_016387.1	6517
2133	rs10494225	N/A	NG_011967.1:g.11702C>G	HAO2	Modifier	Hb F response to hydroxyurea	NG_011967.1	11702
2134	rs2327669	N/A	NG_011994.1:g.47849C>G	PDE7B	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_011994.1	47849
2135	rs11154849	N/A	NG_011994.1:g.185472C>T	PDE7B	Modifier	Hb F response to hydroxyurea	NG_011994.1	185472
2136	rs9376173	N/A	NG_011994.1:g.191613A>C	PDE7B	Modifier	Hb F response to hydroxyurea	NG_011994.1	191613
4021	rs2209331	N/A	NC_000006.12:g.136121468G>A	PDE7B	Modifier	Hb F response to hydroxyurea	NG_011994.1	274773
2137	rs1480642	N/A	NG_011994.1:g.331695C>T	PDE7B	Modifier	Hb F response to hydroxyurea	NG_011994.1	331695
2138	IVS X-1549 A>G (rs487278)	N/A	NG_011994.1:g.333995G>A	PDE7B	Modifier	Hb F response to hydroxyurea	NG_011994.1	333995
2143	rs380620	N/A	NG_011993.1:g.54236G>C	TOX	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_011993.1	54236
2168	rs172652	N/A	NG_011993.1:g.78627T>C	TOX	Modifier	Hb F response to hydroxyurea	NG_011993.1	78627
2142	rs9693712	N/A	NG_011993.1:g.89345G>A	TOX	Modifier	Hb F response to hydroxyurea	NG_011993.1	89345
2694	rs851800	N/A	NG_011993.1:g.97586T>G	TOX	Modifier	Hb F levels	NG_011993.1	97586
2693	rs4737532	N/A	NG_011993.1:g.99125C>T	TOX	Modifier	Hb F levels	NG_011993.1	99125
2692	rs389349	N/A	NG_011993.1:g.99652A>C	TOX	Modifier	Hb F levels	NG_011993.1	99652
2704	rs12545204	N/A	NG_011993.1:g.150456A>T	TOX	Modifier	Hb F levels	NG_011993.1	150456
2703	rs10283344	N/A	NG_011993.1:g.153441T>A	TOX	Modifier	Hb F levels	NG_011993.1	153441
2691	rs1947178	N/A	NG_011993.1:g.164591T>C	TOX	Modifier	Hb F levels	NG_011993.1	164591
2141	rs12155519	N/A	NG_011993.1:g.187938C>T	TOX	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_011993.1	187938
2690	rs6997859	N/A	NG_011993.1:g.190657A>C	TOX	Modifier	Hb F levels	NG_011993.1	190657
2689	rs10504269	N/A	NG_011993.1:g.194098T>G	TOX	Modifier	Hb F levels	NG_011993.1	194098
2140	rs765587	N/A	NG_011993.1:g.245865A>G	TOX	Modifier	Hb F response to hydroxyurea	NG_011993.1	245865
2702	rs2594953	N/A	NG_011993.1:g.246558C>G	TOX	Modifier	Hb F levels	NG_011993.1	246558
2701	rs1349115	N/A	NG_011993.1:g.275034A>G	TOX	Modifier	Hb F levels	NG_011993.1	275034
2700	rs3779999	N/A	NG_011993.1:g.292546G>A	TOX	Modifier	Hb F levels	NG_011993.1	292546
2699	rs826730	N/A	NG_011993.1:g.295878A>C	TOX	Modifier	Hb F levels	NG_011993.1	295878
2169	rs826729	N/A	NG_011993.1:g.297855C>T	TOX	Modifier	Hb F response to hydroxyurea	NG_011993.1	297855
2698	rs7817609	N/A	NG_011993.1:g.301929G>C	TOX	Modifier	Hb F levels	NG_011993.1	301929
2697	rs7821556	N/A	NG_011993.1:g.304719A>T	TOX	Modifier	Hb F levels	NG_011993.1	304719
2696	rs3109904	N/A	NG_011993.1:g.311267T>G	TOX	Modifier	Hb F levels	NG_011993.1	311267
2139	rs2693430	N/A	NG_011993.1:g.311720T>C	TOX	Modifier	Hb F response to hydroxyurea	NG_011993.1	311720
2695	rs2726599	N/A	NG_011993.1:g.318072G>A	TOX	Modifier	Hb F levels	NG_011993.1	318072
2707	rs1483757	N/A	NG_011991.2:g.43043T>C	NOS1	Modifier	Hb F levels	NG_011991.2	43043
2145	rs7977109	N/A	NG_011991.2:g.74243C>T	NOS1	Modifier	Hb F response to hydroxyurea	NG_011991.2	74243
2144	rs7309163	N/A	NG_011991.2:g.75309G>A	NOS1	Modifier	Hb F response to hydroxyurea	NG_011991.2	75309
2706	rs3825102	N/A	NG_011991.2:g.84398G>T	NOS1	Modifier	Hb F levels	NG_011991.2	84398
2705	rs2682820	N/A	NG_011991.2:g.108542A>C	NOS1	Modifier	Hb F levels	NG_011991.2	108542
2166	rs816361	N/A	NG_011991.2:g.149452G>C	NOS1	Modifier	Hb F response to hydroxyurea	NG_011991.2	149452
2715	rs600640	N/A	NG_012003.1:g.10297C>T	FLT1	Modifier	Hb F levels	NG_012003.1	10297
2714	rs670084	N/A	NG_012003.1:g.24482G>T	FLT1	Modifier	Hb F levels	NG_012003.1	24482
2713	rs2256849	N/A	NG_012003.1:g.28414T>C	FLT1	Modifier	Hb F levels	NG_012003.1	28414
2712	rs638889	N/A	NG_012003.1:g.29914A>G	FLT1	Modifier	Hb F levels	NG_012003.1	29914
2162	rs8002446	N/A	NG_012003.1:g.76866C>T	FLT1	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_012003.1	76866
2160	rs2387634	N/A	NG_012003.1:g.83838A>G	FLT1	Modifier	Hb F response to hydroxyurea	NG_012003.1	83838
2148	rs2182008	N/A	NG_012003.1:g.87205T>C	FLT1	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_012003.1	87205
2711	rs9508026	N/A	NG_012003.1:g.89866G>A	FLT1	Modifier	Hb F levels	NG_012003.1	89866
2710	rs9513097	N/A	NG_012003.1:g.97877G>A	FLT1	Modifier	Hb F levels	NG_012003.1	97877
2147	rs9319428	N/A	NG_012003.1:g.100645C>T	FLT1	Modifier	Hb F response to hydroxyurea	NG_012003.1	100645
2146	rs3751395	N/A	NG_012003.1:g.115311G>T	FLT1	Modifier	Hb F response to hydroxyurea	NG_012003.1	115311
2709	rs2387632	N/A	NG_012003.1:g.157923A>G	FLT1	Modifier	Hb F levels	NG_012003.1	157923
2708	rs7987291	N/A	NG_012003.1:g.180060T>C	FLT1	Modifier	Hb F levels	NG_012003.1	180060
2274	rs10483801	N/A	NG_011964.1:g.35428C>A	ARG2	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_011964.1	35428
2275	rs10483802	N/A	NG_011964.1:g.35843T>C	ARG2	Modifier	Hb F response to hydroxyurea	NG_011964.1	35843
2276	rs944725	N/A	NG_011470.1:g.22985G>A	NOS2	Modifier	Hb F response to hydroxyurea	NG_011470.1	22985
2170	rs1137933	N/A	NG_011470.1:g.26624C>T	NOS2	Modifier	Hb F response to hydroxyurea	NG_011470.1	26624
2227	rs9483947	N/A	NG_011965.1:g.13257G>A	MAP3K5	Modifier	Hb F response to hydroxyurea	NG_011965.1	13257
2229	rs9376230	N/A	NG_011965.1:g.16292G>T	MAP3K5	Modifier	Hb F response to hydroxyurea	NG_011965.1	16292
2853	rs7586110	N/A	NG_002601.2:g.97138T>G	UGT1A10	Modifier	Bilirubin levels	NG_002601.2	97138
2854	rs10168155	N/A	NG_002601.2:g.103447C>T	UGT1A10	Modifier	Gallstones, Bilirubin levels	NG_002601.2	103447
2855	rs10168416	N/A	NG_002601.2:g.103698C>G	UGT1A10	Modifier	Gallstones, Bilirubin levels	NG_002601.2	103698
2856	rs6759892	N/A	NG_002601.2:g.108280T>G	UGT1A10	Modifier	Gallstones, Bilirubin levels, Response to deferiprone	NG_002601.2	108280
2857	rs1105880	N/A	NG_002601.2:g.108576A>G	UGT1A10	Modifier	Gallstones, Bilirubin levels	NG_002601.2	108576
2858	rs2070959	N/A	NG_002601.2:g.108802A>G	UGT1A10, UGT1A6	Modifier	Gallstones, Bilirubin levels, Response to deferiprone	NG_002601.2	108802
2859	rs1105879	N/A	NG_002601.2:g.108813A>C	UGT1A10	Modifier	Gallstones, Bilirubin levels	NG_002601.2	108813
2860	rs17863787	N/A	NG_002601.2:g.117705T>G	UGT1A10	Modifier	Bilirubin levels	NG_002601.2	117705
2866	rs3755319	N/A	NG_002601.2:g.174193A>C	UGT1A10	Modifier	Gallstones, Bilirubin levels	NG_002601.2	174193
2852	rs887829	N/A	NG_002601.2:g.175181C>T	UGT1A10, UGT1A6	Modifier	Gallstones, Bilirubin levels	NG_002601.2	175181
2861	rs6742078	N/A	NG_002601.2:g.179250G>T	UGT1A10	Modifier	Gallstones, Bilirubin levels	NG_002601.2	179250
2862	rs4148324	N/A	NG_002601.2:g.179333T>G	UGT1A10	Modifier	Gallstones, Bilirubin levels	NG_002601.2	179333
2863	rs3771341	N/A	NG_002601.2:g.179850G>A	UGT1A10	Modifier	Gallstones, Bilirubin levels	NG_002601.2	179850
2864	rs4148325	N/A	NG_002601.2:g.179920C>T	UGT1A10	Modifier	Gallstones, Bilirubin levels	NG_002601.2	179920
2865	rs4148326	N/A	NG_002601.2:g.180073T>C	UGT1A10	Modifier	Gallstones, Bilirubin levels	NG_002601.2	180073
2286	-473 (A>G) (11943(A>G), c.-201A, rs4499252)	N/A	NT_010393.16:g.31478982A>G	AHSP	Neutral	N/A	NT_010393.16	31478982
2288	IVS I-103 (G>A) (12347 (G>A), c.100-72G, rs8050390)	N/A	NT_010393.16:g.31479386G>A	AHSP	Neutral	N/A	NT_010393.16	31479386
2289	IVS I-146 (G>A) (12391 (G>A), c.100-27G, rs4296276)	N/A	NT_010393.16:g.31479430G>A	AHSP	Modifier	Anaemia	NT_010393.16	31479430
2291	CD 56 GTG > GGG (V56G, rs186590045)	N/A	NT_010393.16:g.31479870T>G	AHSP	Modifier	Anaemia	NT_010393.16	31479870
2290	CD 77 CTG>CTT (12895 (G>T), L77L, rs17677)	N/A	NT_010393.16:g.31479934G>T	AHSP	Neutral	N/A	NT_010393.16	31479934
2684	rs10518707	N/A	NG_011990.1:g.12428A>G	SMAD3	Modifier	Bacteremia	NG_011990.1	12428
2716	rs8038623	N/A	NG_011990.1:g.53281G>A	SMAD3	Modifier	Hb F levels	NG_011990.1	53281
2685	rs5014202	N/A	NG_012244.1:g.858T>C	SMAD6	Modifier	Bacteremia	NG_012244.1	858
2717	rs1440372	N/A	NG_012244.1:g.43478T>C	SMAD6	Modifier	Hb F levels	NG_012244.1	43478
3552	APOE ε4 (rs429358, rs7412)	N/A	NG_007084.2:g.[7903T>C;8041C>T]	APOE	Modifier	Left ventricular diastolic dysfunction	NG_007084.2	7903, 8041
2623	rs713753	N/A	NG_023228.1:g.14418C>T	APOL1	Modifier	Focal segmental glomerulosclerosis	NG_023228.1	14418
2594	rs2239785	N/A	NG_023228.1:g.17214G>A	APOL1	Modifier	Focal segmental glomerulosclerosis	NG_023228.1	17214
2593	rs73885319 (APOL1 G1)	N/A	NG_023228.1:g.17790A>G	APOL1	Modifier	Stroke, Abnormal GFR, Proteinuria, Focal segmental glomerulosclerosis, Albuminuria	NG_023228.1	17790
3548	rs933224	N/A	NG_011884.2:g.23061A>G	MYH9	Modifier	Abnormal GFR	NG_011884.2	23061
2641	rs16996672	N/A	NG_011884.2:g.63094G>A	MYH9	Modifier	Proteinuria, Focal segmental glomerulosclerosis	NG_011884.2	63094
2640	rs1005570	N/A	NG_011884.2:g.73790T>C	MYH9	Modifier	Proteinuria	NG_011884.2	73790
2639	rs8141189	N/A	NG_011884.2:g.74354A>T	MYH9	Modifier	Proteinuria	NG_011884.2	74354
2646	rs8141971	N/A	NG_011884.2:g.77702T>C	MYH9	Modifier	Focal segmental glomerulosclerosis	NG_011884.2	77702
2645	rs4820230	N/A	NG_011884.2:g.79525C>T	MYH9	Modifier	Focal segmental glomerulosclerosis	NG_011884.2	79525
2644	rs2157256	N/A	NG_011884.2:g.81403T>C	MYH9	Modifier	Focal segmental glomerulosclerosis	NG_011884.2	81403
2638	rs1557529	N/A	NG_011884.2:g.83535T>C	MYH9	Modifier	Proteinuria	NG_011884.2	83535
2637	rs5750248	N/A	NG_011884.2:g.86173A>G	MYH9	Modifier	Proteinuria	NG_011884.2	86173
2642	rs4821481	N/A	NG_011884.2:g.93123G>A	MYH9	Modifier	Focal segmental glomerulosclerosis	NG_011884.2	93123
2636	rs16996648	N/A	NG_011884.2:g.96313A>G	MYH9	Modifier	Proteinuria	NG_011884.2	96313
2635	rs11912763	N/A	NG_011884.2:g.104343C>T	MYH9	Modifier	Proteinuria	NG_011884.2	104343
2614	rs2240036	N/A	NG_009245.1:g.157293T>C	BMPR1B	Modifier	Abnormal GFR	NG_009245.1	157293
2615	rs4145993	N/A	NG_009245.1:g.242152T>C	BMPR1B	Modifier	Abnormal GFR	NG_009245.1	242152
2616	rs17022863	N/A	NG_009245.1:g.265607A>G	BMPR1B	Modifier	Abnormal GFR	NG_009245.1	265607
2617	rs1434549	N/A	NG_009245.1:g.336782T>C	BMPR1B	Modifier	Abnormal GFR	NG_009245.1	336782
2618	rs1560909	N/A	NG_009245.1:g.346101A>G	BMPR1B	Modifier	Leg ulcers	NG_009245.1	346101
2619	rs7661539	N/A	NG_009245.1:g.354928C>T	BMPR1B	Modifier	Leg ulcers	NG_009245.1	354928
3086	rs1800469	N/A	NG_013364.1:g.4536T>C	TGFB1	Modifier	N/A	NG_013364.1	4536
2911	Sp1 polymorphism (rs1800012)	N/A	NG_007400.1:g.6252G>T	COL1A1	Modifier	Osteoporosis	NG_007400.1	6252
2944	rs2228570	N/A	NG_008731.1:g.30920T>C	VDR	Modifier	Osteoporosis	NG_008731.1	30920
2910	BsmI polymorphism (rs1544410)	N/A	NG_008731.1:g.63980G>A	VDR	Modifier	Osteoporosis	NG_008731.1	63980
2774	rs398655	N/A	NG_011485.1:g.2082A>C	KL	Modifier	Hb F levels	NG_011485.1	2082
2589	rs576404	N/A	NG_011485.1:g.7530C>A	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	7530
2588	rs499091	N/A	NG_011485.1:g.8586A>G	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	8586
2587	rs2238166	N/A	NG_011485.1:g.9111C>T	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	9111
2586	rs211234	N/A	NG_011485.1:g.9558G>A	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	9558
2578	rs211235	N/A	NG_011485.1:g.9630T>G	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	9630
2585	rs211239	N/A	NG_011485.1:g.10619A>G	KL	Modifier	Osteonecrosis/Avascular necrosis, Priapism	NG_011485.1	10619
2584	rs565587	N/A	NG_011485.1:g.14089A>G	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	14089
2583	rs516306	N/A	NG_011485.1:g.14707T>C	KL	Modifier	Leg ulcers, Osteonecrosis/Avascular necrosis	NG_011485.1	14707
2577	rs480780	N/A	NG_011485.1:g.21749G>T	KL	Modifier	Osteonecrosis/Avascular necrosis	NG_011485.1	21749
2747	rs577912	N/A	NG_011485.1:g.24581T>G	KL	Modifier	Hb F levels	NG_011485.1	24581
2748	rs7982726	N/A	NG_011485.1:g.25141T>C	KL	Modifier	Hb F levels	NG_011485.1	25141
2581	rs685417	N/A	NG_011485.1:g.27562G>A	KL	Modifier	Hb F levels, Leg ulcers, Osteonecrosis/Avascular necrosis	NG_011485.1	27562
3543	rs656525	N/A	NG_011485.1:g.37107A>C	KL	Modifier	Acute chest syndrome	NG_011485.1	37107
3330	rs1888057	N/A	NG_011485.1:g.37125C>T	KL	Modifier	Pulmonary arterial hypertension	NG_011485.1	37125
2647	rs2249358	N/A	NG_011485.1:g.37594G>A	KL	Modifier	Priapism	NG_011485.1	37594
2749	rs9527025	N/A	NG_011485.1:g.42623G>C	KL	Modifier	Hb F levels	NG_011485.1	42623
2580	rs2149860	N/A	NG_011485.1:g.43419A>G	KL	Modifier	Leg ulcers, Osteonecrosis/Avascular necrosis	NG_011485.1	43419
2750	rs648202	N/A	NG_011485.1:g.49893T>C	KL	Modifier	Hb F levels	NG_011485.1	49893
2673	rs8041224	N/A	NG_009492.1:g.109905T>C	IGF1R	Modifier	Bacteremia	NG_009492.1	109905
2674	rs2872060	N/A	NG_009492.1:g.311733G>T	IGF1R	Modifier	Bacteremia	NG_009492.1	311733
2773	rs2238426	N/A	NC_000016.10:g.3953732A>G	ADCY9	Modifier	Stroke	NG_011434.1
2772	rs437115	N/A	NG_011434.1:g.14764A>G	ADCY9	Modifier	Stroke	NG_011434.1	14764
2654	rs2283497	N/A	NG_011434.1:g.105126C>A	ADCY9	Modifier	Stroke	NG_011434.1	105126
2653	rs2072338	N/A	NG_011434.1:g.114260T>C	ADCY9	Modifier	Stroke	NG_011434.1	114260
2651	rs2238432	N/A	NG_011434.1:g.157046C>T	ADCY9	Modifier	Stroke	NG_011434.1	157046
3905	rs3103333	N/A	NC_000001.11:g.91836023G>A \| NC_000001.11:g.91836023G>C	TGFBR3	Modifier	Priapism	NG_027757.1
2606	rs284157	N/A	NG_027757.1:g.104640G>A	TGFBR3	Modifier	Acute chest syndrome, Osteonecrosis/Avascular necrosis	NG_027757.1	104640
2904	rs17443164	N/A	NG_027757.1:g.130512G>C	TGFBR3	Modifier	Pulmonary arterial hypertension	NG_027757.1	130512
2609	rs10874940	N/A	NG_027757.1:g.134374G>A	TGFBR3	Modifier	Pulmonary arterial hypertension	NG_027757.1	134374
2607	rs7526590	N/A	NG_027757.1:g.155106T>A	TGFBR3	Modifier	Priapism, Pulmonary arterial hypertension	NG_027757.1	155106
2608	rs2038931	N/A	NG_027757.1:g.202145C>T	TGFBR3	Modifier	Leg ulcers	NG_027757.1	202145
2610	rs284875	N/A	NG_027757.1:g.205852T>C	TGFBR3	Modifier	Stroke	NG_027757.1	205852
2612	rs2007686	N/A	NG_027757.1:g.214117G>A	TGFBR3	Modifier	Stroke	NG_027757.1	214117
2613	rs2765888	N/A	NG_027757.1:g.214268G>A	TGFBR3	Modifier	Stroke, Bacteremia	NG_027757.1	214268
2624	rs603085	N/A	NG_011828.1:g.19114A>G	TEK	Modifier	Leg ulcers	NG_011828.1	19114
2652	rs489347	N/A	NG_011828.1:g.83070C>G	TEK	Modifier	Stroke	NG_011828.1	83070
2745	rs2305948	N/A	NG_012004.1:g.17205G>A	KDR	Modifier	Hb F levels	NG_012004.1	17205
2744	rs7654599	N/A	NG_012004.1:g.20595G>A	KDR	Modifier	Hb F levels	NG_012004.1	20595
2743	rs6828477	N/A	NG_012004.1:g.29962G>A	KDR	Modifier	Hb F levels	NG_012004.1	29962
2742	rs6554233	N/A	NG_012004.1:g.31044T>C	KDR	Modifier	Hb F levels	NG_012004.1	31044
2728	rs590086	N/A	NG_011542.1:g.28566C>T	ASS1	Modifier	Hb F levels	NG_011542.1	28566
2729	rs652313	N/A	NG_011542.1:g.31827A>G	ASS1	Modifier	Hb F levels	NG_011542.1	31827
2730	rs12555797	N/A	NG_011542.1:g.42933A>G	ASS1	Modifier	Hb F levels	NG_011542.1	42933
2946	rs10901080	N/A	NG_011542.1:g.43563G>T	ASS1	Modifier	Hb F response to hydroxyurea	NG_011542.1	43563
2731	rs543048	N/A	NG_011542.1:g.49539A>T	ASS1	Modifier	Hb F levels	NG_011542.1	49539
2947	rs10793902	N/A	NG_011542.1:g.62817C>T	ASS1	Modifier	Hb F response to hydroxyurea	NG_011542.1	62817
2732	rs4468448	N/A	NG_011963.2:g.47702T>C	ALOX5AP	Modifier	Hb F levels	NG_011963.2	47702
2733	rs4769058	N/A	NG_011963.2:g.50817T>C	ALOX5AP	Modifier	Hb F levels	NG_011963.2	50817
2734	rs4445746	N/A	NC_000013.11:g.30767298G>A	ALOX5AP	Modifier	Hb F levels	NG_011963.2	30767298
2805	rs2580874	N/A	NG_011588.1:g.11633C>T	AICDA	Modifier	Hb F levels, Severity	NG_011588.1	11633
2629	rs725937	N/A	NG_042174.1:g.14905A>G	SPARC	Modifier	Hb F levels	NG_042174.1	14905
2630	rs6874468	N/A	NG_042174.1:g.15921C>T	SPARC	Modifier	Hb F levels	NG_042174.1	15921
2628	rs7719521	N/A	NG_042174.1:g.22212T>G	SPARC	Modifier	Hb F levels	NG_042174.1	22212
2631	rs16971033	N/A	NG_032674.1:g.49520T>C	EFTUD2	Modifier	Hb F levels	NG_032674.1	49520
2632	rs2289673	N/A	NG_032674.1:g.52024A>G	EFTUD2	Modifier	Hb F levels	NG_032674.1	52024
2633	rs2304986	N/A	NG_032674.1:g.53940A>G	EFTUD2	Modifier	Hb F levels	NG_032674.1	53940
2634	rs740127	N/A	NG_011499.1:g.187063C>T	JAZF1	Modifier	Hb F levels	NG_011499.1	187063
2719	rs1867380	N/A	NG_011975.1:g.50874A>G	AQP9	Modifier	Hb F levels	NG_011975.2	50874
2650	rs2070744 (-786T>C, T786C)	N/A	NG_011992.1:g.6933C>T	NOS3	Modifier	Acute chest syndrome, Bilirubin levels, Retinopathy, Delayed menarche, Increased lactate dehydrogenase activity, Reticulocytosis, Recurrent upper respiratory tract infections	NG_011992.1	6933
2948	rs1799983 (G894T)	N/A	NG_011992.1:g.12965T>G	NOS3	Modifier	Delayed menarche, Abnormal haematocrit, Increased lactate dehydrogenase activity, Reticulocytosis, Anaemia	NG_011992.1	12965
2735	rs1008140	N/A	NG_011992.1:g.22464T>C	NOS3	Modifier	Hb F levels	NG_011992.1	22464
2736	rs743507	N/A	NG_011992.1:g.24342C>T	NOS3	Modifier	Hb F levels	NG_011992.1	24342
2737	rs1808593	N/A	NG_011992.1:g.25156G>T	NOS3	Modifier	Hb F levels	NG_011992.1	25156
2741	rs6557420	N/A	NG_011995.1:g.19853C>A	NOX3	Modifier	Hb F levels	NG_011995.1	19853
2740	rs9371889	N/A	NG_011995.1:g.39392T>C	NOX3	Modifier	Hb F levels	NG_011995.1	39392
2739	rs231945	N/A	NG_011995.1:g.42114G>A	NOX3	Modifier	Hb F levels	NG_011995.1	42114
2738	rs231944	N/A	NG_011995.1:g.42270A>C	NOX3	Modifier	Hb F levels	NG_011995.1	42270
2726	rs6654096	N/A	NG_011988.1:g.10977A>G	GPM6B	Modifier	Hb F levels	NG_011988.1	10977
2725	rs5979998	N/A	NG_011988.1:g.27799C>T	GPM6B	Modifier	Hb F levels	NG_011988.1	27799
2724	rs4830513	N/A	NG_011988.1:g.43999C>T	GPM6B	Modifier	Hb F levels	NG_011988.1	43999
2723	rs7890737	N/A	NG_011988.1:g.44878C>T	GPM6B	Modifier	Hb F levels	NG_011988.1	44878
2720	rs1005589	N/A	NG_011988.1:g.70485C>T	GPM6B	Modifier	Hb F levels	NG_011988.1	70485
2721	rs11095629	N/A	NG_011988.1:g.111047G>A	GPM6B	Modifier	Hb F levels	NG_011988.1	111047
2722	rs5978663	N/A	NG_011988.1:g.157872G>A	GPM6B	Modifier	Hb F levels	NG_011988.1	157872
2622	rs157681	N/A	NG_011966.2:g.45247C>G	MAP3K7	Modifier	Hb F levels	NG_011966.2	45247
2621	rs1145729	N/A	NG_011966.2:g.46574C>T	MAP3K7	Modifier	Hb F levels	NG_011966.2	46574
2620	rs157702	N/A	NG_011966.2:g.74227G>A	MAP3K7	Modifier	Leg ulcers	NG_011966.2	74227
2891	rs2012700	N/A	NG_008462.1:g.40670G>A	PEX7	Modifier	Hb F levels	NG_008462.1	40670
2892	rs3799476	N/A	NG_008462.1:g.45356G>A	PEX7	Modifier	Hb F levels	NG_008462.1	45356
2893	rs1342645	N/A	NG_008462.1:g.68587G>A	PEX7	Modifier	Hb F levels	NG_008462.1	68587
2604	rs1019856	N/A	NG_007490.1:g.53823T>C	TGFBR2	Modifier	Leg ulcers, Osteonecrosis/Avascular necrosis, Stroke	NG_007490.1	53823
2605	rs934328	N/A	NG_007490.1:g.64751G>A	TGFBR2	Modifier	Osteonecrosis/Avascular necrosis	NG_007490.1	64751
2929	rs3773658	N/A	NG_007490.1:g.81443A>G	TGFBR2	Modifier	Stroke	NG_007490.1	81443
2928	rs876687	N/A	NG_007490.1:g.82652T>C	TGFBR2	Modifier	Stroke	NG_007490.1	82652
2909	rs11969912 (hcv1860621)	N/A	NG_008107.1:g.149950C>T	F13A1	Modifier	Priapism	NG_008107.1	149950
2897	rs5923	N/A	NG_009778.1:g.9063C>T	LCAT	Modifier	Pulmonary arterial hypertension	NG_009778.1	9063
2657	rs3753306	N/A	NG_012125.1:g.4146A>G	SELP	Modifier	Stroke	NG_012125.1	4146
2901	rs6131	N/A	NG_012125.1:g.23493G>A	SELP	Modifier	Pulmonary arterial hypertension	NG_012125.1	23493
2656	rs3917733	N/A	NG_012125.1:g.23868G>A	SELP	Modifier	Stroke	NG_012125.1	23868
2900	rs2235302	N/A	NG_012125.1:g.24088G>A	SELP	Modifier	Pulmonary arterial hypertension	NG_012125.1	24088
2655	rs2420378	N/A	NG_012125.1:g.34460T>A	SELP	Modifier	Stroke	NG_012125.1	34460
2649	rs706814	N/A	NG_009549.1:g.14642A>T	ACVRL1	Modifier	Pulmonary arterial hypertension	NG_009549.1	14642
2648	rs1801253	N/A	NG_012187.1:g.6251G>C	ADRB1	Modifier	Pulmonary arterial hypertension	NG_012187.1	6251
2908	rs1624292	N/A	NG_029954.1:g.65626T>C	NEDD4L	Modifier	Pulmonary arterial hypertension	NG_029954.1	65626
2907	rs559046	N/A	NG_029954.1:g.68394A>G	NEDD4L	Modifier	Pulmonary arterial hypertension	NG_029954.1	68394
2902	rs426634	N/A	NG_007951.1:g.63342G>A	SLC12A6	Modifier	Pulmonary arterial hypertension	NG_007951.1	63342
2687	rs3730070	N/A	NG_042166.1:g.19032C>G	ADCY6	Modifier	Haemolytic anaemia, RBC adhesion	NG_042166.1	19032
2903	rs9804777	N/A	NG_042166.1:g.23055A>G	ADCY6	Modifier	Pulmonary arterial hypertension	NG_042166.1	23055
2688	rs7300155	N/A	NG_042166.1:g.25282C>T	ADCY6	Modifier	RBC adhesion	NG_042166.1	25282
2895	rs6663530	N/A	NG_007481.1:g.96969G>A	CR1	Modifier	Pulmonary arterial hypertension	NG_007481.1	96969
3205	rs2814778	N/A	NG_011626.2:g.5174T>C	ACKR1	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count, Albuminuria	NG_011626.1	5174
2627	rs4489951	N/A	NG_008305.1:g.36684G>A	MAP2K1	Modifier	Hb F levels	NG_008305.1	36684
2626	rs8036023	N/A	NG_008305.1:g.57075G>C	MAP2K1	Modifier	Leg ulcers	NG_008305.1	57075
2625	rs9576135	N/A	NG_016963.1:g.17251T>C	SMAD9	Modifier	Leg ulcers	NG_016963.1	17251
2906	rs2068991	N/A	NG_042284.1:g.25565T>G	SMAD1	Modifier	Acute chest syndrome	NG_042284.1	25565
2601	rs538874	N/A	NG_029752.2:g.566235C>T	STARD13	Modifier	Osteonecrosis/Avascular necrosis	NG_029752.2	566235
2602	rs475303	N/A	NG_029752.2:g.575929A>G	STARD13	Modifier	Osteonecrosis/Avascular necrosis	NG_029752.2	575929
2675	rs6586039	N/A	NG_009362.1:g.57170G>A	BMPR1A	Modifier	Bacteremia	NG_009362.1	57170
2676	rs17107199 (hCV1663921)	N/A	NG_009362.1:g.167412C>T	BMPR1A	Modifier	Bacteremia	NG_009362.1	167412
3653	rs3892097	N/A	NG_008376.3:g.6047G>A	CYP2D6	Modifier	Response to hydroxyurea	NG_008376.3	6047
2672	rs7147286	N/A	NG_008647.1:g.15878C>T	GCH1	Modifier	Pain	NG_008647.1	15878
2669	rs12720497	N/A	NG_012203.1:g.37389C>T	PLA2G4A	Modifier	Pain	NG_012203.1	37389
3553	rs1800450	N/A	NG_008196.1:g.5226G>A	MBL2	Modifier	Recurrent infections	NG_008196.1	5226
3554	rs1800451	N/A	NG_008196.1:g.5235G>A	MBL2	Modifier	Recurrent infections	NG_008196.1	5235
2670	rs5911 (HPA-3)	N/A	NG_008331.1:g.18809T>G	ITGA2B	Modifier	Vaso-occlusive crisis	NG_008331.1	18809
2671	rs1801106 (HPA-5)	N/A	NG_008330.1:g.78602G>A	ITGA2	Modifier	Vaso-occlusive crisis	NG_008330.1	78602
3114	T8002C	N/A	N/A	EDN1	Modifier	Acute chest syndrome	NG_016196.1	8002
2592	rs5369	N/A	NG_016196.1:g.8730A>G	EDN1	Modifier	Osteonecrosis/Avascular necrosis	NG_016196.1	8730
3113	rs5370 (5665G>T)	N/A	NG_016196.1:g.10727G>T	EDN1	Modifier	Acute chest syndrome, Pulmonary arterial hypertension, Vaso-occlusive crisis	NG_016196.1	10727
2599	rs212531	N/A	NG_013008.1:g.88757C>T	ECE1	Modifier	Stroke	NG_013008.1	88757
2598	rs212528	N/A	NG_013008.1:g.91374A>G	ECE1	Modifier	Stroke	NG_013008.1	91374
2597	rs212527	N/A	NG_013008.1:g.92021G>A	ECE1	Modifier	Osteonecrosis/Avascular necrosis	NG_013008.1	92021
3898	rs1409419	N/A	NC_000001.11:g.100717840T>C	VCAM1	Modifier	Stroke	NG_023034.2	3100
2665	rs1041163 (−1594T>C)	N/A	NG_023034.2:g.3529T>C	VCAM1	Modifier	Stroke	NG_023034.2	3529
2667	rs3783613 (G1238C)	N/A	NG_023034.2:g.16491G>C	VCAM1	Modifier	Stroke	NG_023034.2	16491
2596	rs2836430	N/A	NG_029732.1:g.189152A>C	ERG	Modifier	Osteonecrosis/Avascular necrosis	NG_029732.1	189152
2595	rs979091	N/A	NG_029732.1:g.240941G>T	ERG	Modifier	Osteonecrosis/Avascular necrosis	NG_029732.1	240941
2658	rs989554	N/A	NG_029732.1:g.251778C>T	ERG	Modifier	Stroke	NG_029732.1	251778
2572	rs1801133 (C677T)	N/A	NG_013351.1:g.14783C>T	MTHFR	Modifier	Osteonecrosis/Avascular necrosis, Pain, Abnormal circulating homocysteine concentration	NG_013351.1	14783
3198	rs17778257	N/A	NG_016421.1:g.3422A>T	ADRB2	Modifier	Pain	NG_016421.1	3422
3199	rs12654778	N/A	NG_016421.1:g.4586G>A	ADRB2	Modifier	Pain	NG_016421.1	4586
3200	rs11168070	N/A	NG_016421.1:g.4772G>C	ADRB2	Modifier	Pain	NG_016421.1	4772
3202	rs11959427	N/A	NG_016421.1:g.4873C>T	ADRB2	Modifier	Pain	NG_016421.1	4873
3203	rs1042711	N/A	NG_016421.1:g.5193C>T	ADRB2	Modifier	Pain	NG_016421.1	5193
3204	rs1801704	N/A	NG_016421.1:g.5220C>T	ADRB2	Modifier	Pain	NG_016421.1	5220
2686	rs1042713	N/A	NG_016421.1:g.5285A>G, NG_016421.1:g.5285A=	ADRB2	Modifier	Pain, RBC adhesion	NG_016421.1	5285
2659	rs1042714 (Q27E)	N/A	NG_016421.1:g.5318C>G	ADRB2	Modifier	Stroke	NG_016421.1	5318
2894	rs5742911	N/A	NG_009060.1:g.48389A>G	LDLR	Modifier	Stroke	NG_009060.1	48389
2668	rs1800629 (–308G>A)	N/A	NG_007462.1:g.4682G>A	TNF	Modifier	Stroke, Decreased serum ferritin	NG_007462.1	4682
2660	rs1805015	N/A	NG_012086.1:g.53930T>C	IL4R	Modifier	Stroke	NG_012086.1	53930
2661	rs730012	N/A	NG_028161.1:g.4653A>C	LTC4S	Modifier	Stroke	NG_028161.1	4653
2778	rs38850	N/A	NG_008996.1:g.30191G>A	MET	Modifier	Stroke	NG_008996.1	30191
2779	rs38859	N/A	NG_008996.1:g.71636C>T	MET	Modifier	Stroke	NG_008996.1	71636
2780	rs4586	N/A	NG_012123.1:g.5974T>C	CCL2	Modifier	Stroke	NG_012123.1	5974
2781	rs25882	N/A	NG_033024.1:g.6976T>C	CSF2	Modifier	Stroke	NG_033024.1	6976
2782	rs7203560	N/A	NG_029669.1:g.9308A>C	NPRL3	Modifier	Haemolytic anaemia, Bilirubin levels, Reticulocytopenia	NG_029669.1	9308
3194	rs570013781	N/A	NG_029669.1:g.44159C>T	NPRL3	Modifier	Anaemia	NG_029669.1	44159
2783	rs6972505	N/A	NC_000007.14:g.103423590C>G	SLC26A5	Modifier	Severity	NG_023055.1	27588
3834	rs7804867	N/A	NC_000007.14:g.103393310G>A	SLC26A5	Modifier	Severity	NG_023055.1	57868
2949	rs8099917	N/A	NC_000019.10:g.39252525T>G	IFNL3	Modifier	Response to Hepatitis C treatment	NG_042193.1	0
2786	rs4803221	N/A	NG_042193.1:g.1483G>C	IFNL3	Modifier	Response to Hepatitis C treatment	NG_042193.1	1483
2785	rs12979860	N/A	NG_042193.1:g.1825G>A	IFNL3	Modifier	Response to Hepatitis C treatment	NG_042193.1	1825
2094	rs28384513	N/A	NG_012002.1:g.4828A>C	HBS1L	Modifier	Hb F levels	NG_012002.1	4828
3358	rs2297339 ( C32T, -162C>T)	N/A	NG_012002.1:g.5046C>T	HBS1L	Modifier	Hb F levels	NG_012002.1	5046
3184	rs11754265	N/A	NG_012002.1:g.24821C>G	HBS1L	Modifier	Hb F levels	NG_012002.1	24821
3171	rs186765701	N/A	NG_012002.1:g.56872T>G	HBS1L	Modifier	Hb F levels	NG_012002.1	56872
3833	rs4376364	N/A	NC_000006.12:g.134986347T>G	HBS1L	Modifier	Severity	NG_012002.1	73552
2905	rs35711585	N/A	NG_009363.1:g.174302G>C	BMPR2	Modifier	Pulmonary arterial hypertension	NG_009363.1	174302
2885	rs17199249	N/A	NG_009363.1:g.190619T>G	BMPR2	Modifier	Pulmonary arterial hypertension	NG_009363.1	190619
2920	rs17599586	N/A	NG_007086.2:g.15355C>T	ARG1	Modifier	Hb F response to hydroxyurea	NG_007086.2	15355
2921	rs1143634 (+3954 C>T)	N/A	NG_008851.1:g.8967C>T	IL1B	Modifier	Osteonecrosis/Avascular necrosis, Pulmonary arterial hypertension, Reticulocytopenia	NG_008851.1	8967
2922	rs1800797 (-597G>A)	N/A	NG_011640.1:g.4456A>G	IL6	Modifier	Retinopathy	NG_011640.1	4456
2923	rs1800795 (-174G>C)	N/A	NG_011640.1:g.4880C>G	IL6	Modifier	Leg ulcers, Stroke	NG_011640.1	4880
2925	rs186996510 (12C>G)	N/A	NG_015865.1:g.8168C>G	EGLN1	Modifier	Anaemia	NG_015865.1	8168
2927	rs13419896	N/A	NG_016000.1:g.36805G>A	EPAS1	Modifier	Anaemia	NG_016000.1	36805
2926	rs4953354	N/A	NG_016000.1:g.55848A>G	EPAS1	Modifier	Anaemia	NG_016000.1	55848
2931	rs1044498 (K173Q)	N/A	NG_008206.1:g.48213A>C	ENPP1	Modifier	Stroke	NG_008206.1	48213
2932	rs662 (Q192R)	N/A	NG_008779.1:g.21439A>G	PON1	Modifier	Stroke	NG_008779.1	21439
2942	rs699	N/A	NG_008836.1:g.9543T>C	AGT	Modifier	Stroke	NG_008836.1	9543
2941	rs1695 (GSTP1 Ile105Val)	N/A	NG_012075.1:g.6624A>G	GSTP1	Modifier	Hb F levels, Osteoporosis, Increased Hb A2 levels, Abnormal red blood cell count, Reticulocytopenia	NG_012075.1	6624
2943	rs2282786	N/A	NG_011441.1:g.93457T>C	EGF	Modifier	Abnormal platelet count	NG_011441.1	93457
2940	rs2280789 (g.In1.+1T>C)	N/A	NG_015990.1:g.5375T>C	CCL5	Modifier	Recurrent infections	NG_015990.1	5375
3491	rs2076086	N/A	NG_012856.2:g.40068G>A	TMPRSS6	Modifier	Abnormal Hb	NG_012856.2	40068
3082	rs2413450	N/A	NG_012856.2:g.40380A>G	TMPRSS6	Modifier	Anaemia	NG_012856.2	40380
3083	rs4820268	N/A	NG_012856.2:g.41013C>T	TMPRSS6	Modifier	Anaemia	NG_012856.2	41013
3084	rs855791	N/A	NG_012856.2:g.47668T>C	TMPRSS6	Modifier	Abnormal hepcidin level	NG_012856.2	47668
3094	rs144300387	N/A	NG_016323.1:g.6589T>C	PROC	Modifier	Thromboembolism	NG_016323.1	6589
3095	rs5936	N/A	NG_016323.1:g.9877G>T	PROC	Modifier	Thromboembolism	NG_016323.1	9877
3096	rs146922325	N/A	NG_016323.1:g.12695C>T	PROC	Modifier	Thromboembolism	NG_016323.1	12695
3097	rs1867504	N/A	NG_008673.3:g.196A>G	TF	Modifier	Increased serum ferritin, Anaemia	NG_013080.1	196
3098	rs1799852	N/A	NG_013080.1:g.15746C>T	TF	Modifier	Decreased serum ferritin	NG_013080.1	15746
3099	rs3811658	N/A	NG_013080.1:g.16876C>T	TF	Modifier	Anaemia	NG_013080.1	16876
3115	rs6025	N/A	NG_011806.1:g.41721G>A	F5	Modifier	Thromboembolism	NG_011806.1	41721
3116	rs1799963	N/A	NG_008953.1:g.25313G>A	F2	Modifier	Thromboembolism	NG_008953.1	25313
3117	rs5361	N/A	NG_012124.1:g.7161A>C	SELE	Modifier	Thromboembolism	NG_012124.1	7161
3122	rs10421768	N/A	NG_011563.1:g.4490A>G	HAMP	Modifier	Increased serum ferritin, Increased liver iron level, Anaemia	NG_011563.1	4490
3121	rs7385804	N/A	NG_007989.1:g.8204G>T	TFR2	Modifier	Decreased serum ferritin	NG_007989.1	8204
3120	rs1799945	N/A	NG_008720.2:g.8671C>G	HFE	Modifier	Increased serum iron, Elevated transferrin saturation, Increased serum ferritin	NG_008720.2	8671
3118	rs1613662	N/A	NG_031963.2:g.18038C>T	GP6	Modifier	Thromboembolism	NG_031963.2	18038
3124	rs747259055	N/A	NG_009813.1:g.82497G>A	PROS1	Modifier	Thromboembolism	NG_009813.1	82497
3125	rs5877	N/A	NG_012462.1:g.12655A>G	SERPINC1	Modifier	Thromboembolism	NG_012462.1	12655
3329	rs2227617	N/A	NG_012462.1:g.17458C>T	SERPINC1	Modifier	Pulmonary arterial hypertension	NG_012462.1	17458
3123	rs10904850	N/A	NG_008967.1:g.179110C>T	CUBN	Modifier	Anaemia	NG_008967.1	179110
3210	rs111265129	N/A	NG_008967.1:g.283485A>G	CUBN	Modifier	Abnormal GFR	NG_008967.1	283485
3119	rs13146272	N/A	NG_007965.1:g.12538C>A	CYP4V2	Modifier	Thromboembolism	NG_007965.1	12538
3126	rs61743453	N/A	NG_001332.2:g.46438G>C	SALL2	Modifier	Hb F response to hydroxyurea	NG_051069.1	46438
3129	rs2273668	N/A	NG_029518.1:g.97190C>A	SESN1	Modifier	Hb F response to hydroxyurea	NG_029518.1	97190
3131	rs61749462	N/A	NG_012324.1:g.24715C>A \| NG_012324.1:g.24715C>T	KRT80	Modifier	Hb F response to hydroxyurea	NG_012324.1	24715
3136	rs2606345	N/A	NG_008431.1:g.7294C>A	CYP1A1	Modifier	Response to deferasirox	NG_008431.2	7294
3134	rs762551	N/A	NG_008431.1:g.32035C>A	CYP1A2	Modifier	Response to deferasirox	NG_008431.2	32035
3135	rs2470890	N/A	NG_008431.1:g.37544C>T \| NG_008431.1:g.37544C=	CYP1A2	Modifier	Response to deferasirox	NG_008431.2	37544
3137	rs2273697	N/A	NG_011798.1:g.26353G>A	ABCC2	Modifier	Response to deferasirox	NG_011798.1	26353
2603	rs648464	N/A	NC_000013.11:g.33093328G>A	STARD13	Modifier	Osteonecrosis/Avascular necrosis	N/A
2678	rs8007267	N/A	NC_000014.9:g.54912273C>T	GCH1	Modifier	Pain	N/A
2679	rs17728960	N/A	NC_000020.11:g.51513177T>C	NFATC2	Modifier	Acute chest syndrome	N/A
2746	rs7985485 (hCV3118898)	N/A	NC_000013.11:g.32786336C>A	PDS5B	Modifier	Leg ulcers, Osteonecrosis/Avascular necrosis	N/A
2751	rs7170421 (hCV11770326)	N/A	NC_000015.10:g.60341947C>G	ANXA2	Modifier	Osteonecrosis/Avascular necrosis	N/A
2752	rs7170178	N/A	NC_000015.10:g.60341655G>A	ANXA2	Modifier	Osteonecrosis/Avascular necrosis	N/A
2753	rs1033028	N/A	NC_000015.10:g.60324736T>G	ANXA2	Modifier	Osteonecrosis/Avascular necrosis	N/A
2754	rs11853426 (hCV26910500)	N/A	NC_000015.10:g.60317231C>T	ANXA2	Modifier	Osteonecrosis/Avascular necrosis, Stroke	N/A
2758	rs9920494 (hCV1571628)	N/A	NC_000015.10:g.60313715T>G	ANXA2	Modifier	Osteonecrosis/Avascular necrosis	N/A
2760	rs270393	N/A	NC_000006.12:g.7768619G>C	BMP6	Modifier	Leg ulcers, Osteonecrosis/Avascular necrosis	N/A
2761	rs267196	N/A	NC_000006.12:g.7849102T>A	BMP6	Modifier	Osteonecrosis/Avascular necrosis, Stroke, Pulmonary arterial hypertension	N/A
2762	rs267201	N/A	NC_000006.12:g.7853358A>G	BMP6	Modifier	Osteonecrosis/Avascular necrosis, Stroke, Pulmonary arterial hypertension	N/A
2763	rs1225934	N/A	NC_000006.12:g.7877186A>C	BMP6	Modifier	Osteonecrosis/Avascular necrosis	N/A
2764	rs3812163	N/A	NC_000006.12:g.7725527A>T	BMP6	Modifier	Osteonecrosis/Avascular necrosis	N/A
2766	rs10244884	N/A	NC_000007.14:g.30932180T>C	AQP1	Modifier	Priapism	N/A
2767	rs3768780	N/A	NC_000002.12:g.186613773A>G	ITGAV	Modifier	Priapism	N/A
2768	rs219825	N/A	NC_000007.14:g.99047942C>G	SMURF1	Modifier	Leg ulcers	N/A
2769	rs736839	N/A	NC_000018.10:g.49001695C>T	SMAD7	Modifier	Acute chest syndrome, Leg ulcers	N/A
2770	rs3847859	N/A	NC_000012.12:g.51899716G>A	ACVRL1	Modifier	Pulmonary arterial hypertension	N/A
2771	rs267192	N/A	NC_000006.12:g.7845011C>T	BMP6	Modifier	Pulmonary arterial hypertension	N/A
2775	rs1122109	N/A	NC_000017.11:g.44807170C>A	GJC1	Modifier	Hb F levels	N/A
2776	rs2108393	N/A	NC_000017.11:g.44803385C>T	GJC1	Modifier	Hb F levels	N/A
2777	rs776717	N/A	NC_000015.10:g.42109454T>C	PLA2G4D-PLA2G4F	Modifier	Hb F levels	N/A
2787	rs4808793	N/A	NC_000019.10:g.18383027G>C	GDF15	Modifier	Abnormal hepcidin level	N/A
2791	rs840716	N/A	NC_000011.10:g.4932232G>T	OR51G1-OR51A3P	Modifier	Hb F levels	N/A
2796	rs1391619	N/A	NC_000011.10:g.5434699G>A	OR51B5	Modifier	Hb F levels	N/A
2797	rs7937649	N/A	NC_000011.10:g.5201149G>A	OR51V1	Modifier	Hb F levels	N/A
2798	rs10837540	N/A	NC_000011.10:g.5193183T>A	OR52Z1-OR51V1	Modifier	Hb F levels	N/A
2829	rs5006884	N/A	NC_000011.10:g.5352021C>T	OR51B6	Modifier	Hb F levels, Acute chest syndrome	N/A
2830	rs4910755	N/A	NC_000011.10:g.5351521A>C	OR51B6	Modifier	Hb F levels	N/A
2831	rs4910756	N/A	NC_000011.10:g.5351626A>G	OR51B6	Modifier	Hb F levels	N/A
2832	rs7483122	N/A	NC_000011.10:g.5351776T>C	OR51B6	Modifier	Hb F levels	N/A
2833	rs5006883	N/A	NC_000011.10:g.5352081T>C	OR51B6	Modifier	Hb F levels	N/A
2834	rs5024042	N/A	NC_000011.10:g.5352332C>A	OR51B6	Modifier	Hb F levels	N/A
2835	rs10500635	N/A	NC_000011.10:g.5365438G>A	OR51B5	Modifier	Hb F levels	N/A
2836	rs416586	N/A	NC_000011.10:g.5472327A>G	OR51B5	Modifier	Hb F levels	N/A
2868	rs11037191	N/A	NC_000011.10:g.5390842A>G	OR51B5	Modifier	Hb F levels	N/A
2873	rs11036238	N/A	NC_000011.10:g.5204405G>C	OR51V1-HBB	Modifier	Hb F levels	N/A
2875	rs10836955	N/A	NC_000011.10:g.4924401G>A	OR51G1	Modifier	Hb F levels	N/A
2877	rs2340653	N/A	NC_000011.10:g.5430531G>A	OR51B5	Modifier	Hb F levels	N/A
2878	rs2647579	N/A	NC_000011.10:g.5419057A>G	OR51B5	Modifier	Hb F levels	N/A
2879	rs7951206	N/A	NC_000011.10:g.4590424G>A	OR52I2-OR52I1	Modifier	Hb F levels	N/A
2880	rs888082	N/A	NC_000002.12:g.60402474G>A	LOC102724142	Modifier	Hb F levels	N/A
2881	rs12286144	N/A	NC_000011.10:g.5521789T>C	OLFM5P	Modifier	Hb F levels	N/A
2882	rs12802922	N/A	NC_000011.10:g.4914380C>T	OR51G2	Modifier	Hb F levels	N/A
2883	rs4821469	N/A	NC_000022.11:g.36220399T>C	APOL4-APOL2	Modifier	Focal segmental glomerulosclerosis	N/A
2884	rs4821475	N/A	NC_000022.11:g.36273049C>T	APOL1-MYH9	Modifier	Focal segmental glomerulosclerosis	N/A
2886	rs243027	N/A	NC_000002.12:g.60379872T>G	MIR4432HG	Modifier	F-cell numbers	N/A
2887	rs243081	N/A	NC_000002.12:g.60386641G>A	MIR4432HG	Modifier	F-cell numbers	N/A
2888	rs2179288	N/A	NC_000006.12:g.136368292A>G	MAP7	Modifier	Hb F levels	N/A
2889	rs2076192	N/A	NC_000006.12:g.136377559C>A	MAP7	Modifier	Hb F levels	N/A
2890	rs3778314	N/A	NC_000006.12:g.136516923T>C	MAP7	Modifier	Hb F levels	N/A
2896	rs3027045	N/A	NC_000001.11:g.159212305C>T	ACKR1	Modifier	Pulmonary arterial hypertension	N/A
2898	rs10492226	N/A	NC_000012.12:g.96010211T>A	LTA4H	Modifier	Pulmonary arterial hypertension	N/A
2899	rs1978331	N/A	NC_000012.12:g.96015423A>G	LTA4H	Modifier	Pulmonary arterial hypertension	N/A
2919	rs2295644	N/A	NC_000014.9:g.67599842A>T	ARG2	Modifier	Hb F response to hydroxyurea	N/A
2924	rs4786504	N/A	NC_000016.10:g.4487692T>C	HMOX2	Modifier	Anaemia	N/A
2930	rs3732410 (Y1212C)	N/A	NC_000003.12:g.121696873T>C	GOLGB1	Modifier	Stroke	N/A
2933	rs799813	N/A	NC_000002.12:g.154354666C>G	GALNT13	Modifier	Pulmonary arterial hypertension	N/A
2934	rs10497120	N/A	NC_000002.12:g.153513398A>C	GALNT13	Modifier	Pulmonary arterial hypertension	N/A
2935	rs13407922	N/A	NC_000002.12:g.154425285G>A	GALNT13	Modifier	Pulmonary arterial hypertension	N/A
2936	rs16833378	N/A	NC_000002.12:g.153515514A>G	GALNT13	Modifier	Pulmonary arterial hypertension	N/A
2937	rs9808145	N/A	NC_000002.12:g.154425689T>A	GALNT13	Modifier	Pulmonary arterial hypertension	N/A
2938	rs7208480	N/A	NC_000017.11:g.15770470C>T	ADORA2B	Modifier	Pulmonary arterial hypertension	N/A
2939	rs2794452	N/A	NC_000001.11:g.203468576T>C	PRELP	Modifier	Pulmonary arterial hypertension	N/A
3127	rs141631682	N/A	NC_000014.9:g.99865589G>A	EML1	Modifier	Hb F response to hydroxyurea	N/A
3128	rs17126352	N/A	NC_000014.9:g.73254537G>A	PAPLN	Modifier	Hb F response to hydroxyurea	N/A
3130	rs61746132	N/A	NC_000004.12:g.154235260G>A	DCHS2	Modifier	Hb F response to hydroxyurea	N/A
3132	rs61742645	N/A	NC_000007.14:g.156969123C>T	NOM1	Modifier	Hb F response to hydroxyurea	N/A
3151	rs10756993	N/A	NC_000009.12:g.18839726A>C	ADAMTSL1	Modifier	Hb F levels	N/A
3152	rs62573842	N/A	NC_000009.12:g.32264314A>G	HMGB3P23-RNA5SP281	Modifier	Hb F levels	N/A
3154	rs7163278	N/A	NC_000015.10:g.93345162T>C	LOC105370982	Modifier	Hb F levels	N/A
3155	rs10468869	N/A	NW_003315959.1:g.26240C>T	LOC100422053-RPS8P3	Modifier	Hb F levels	N/A
3156	rs28567737	N/A	NC_000019.10:g.46027961T>C	LOC105372421	Modifier	Hb F levels	N/A
3173	rs11072544	N/A	NC_000015.10:g.75373740G>A	SIN3A	Modifier	Hb F levels	N/A
3174	rs7166737	N/A	NC_000015.10:g.75390172A>G	SIN3A	Modifier	Hb F response to hydroxyurea	N/A
3181	rs141006889	N/A	NC_000016.10:g.88534873A>G	FOG1	Modifier	Anaemia	N/A
3196	rs1478605	N/A	NC_000015.10:g.39581083G>A	THBS1	Modifier	Pulmonary arterial hypertension	N/A
3197	rs10877969	N/A	NC_000012.12:g.63153459T>C	AVPR1A	Modifier	Pain	N/A
3220	rs4713339	N/A	NC_000006.12:g.11287099C>T	NEDD9	Modifier	Hb F levels	N/A
3285	rs11759328	N/A	NC_000006.12:g.129691228C>T	ARHGAP18	Modifier	Hb F levels	N/A
3300	rs6777055	N/A	NC_000003.12:g.55039890A>C	CACNA2D3	Modifier	Vaso-occlusive crisis	N/A
3304	rs734784	N/A	NC_000020.11:g.45094986T>C	KCNS1	Modifier	Vaso-occlusive crisis	N/A
3347	rs10499052	N/A	NC_000006.12:g.109564272G>A	AK9	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count	N/A
3579	rs3115229	N/A	NC_000004.12:g.122088578T>C	TRPC3-KIAA1109	Modifier	Vaso-occlusive crisis	N/A
3637	rs11968814	N/A	NC_000006.12:g.71067268G>A	B3GAT2-BECN1P2	Modifier	F-cell numbers	N/A
3639	rs10017284	N/A	NC_000004.12:g.120592060A>G	SAR1AP3-PRDM5	Modifier	F-cell numbers	N/A
3641	rs1845344	N/A	NC_000004.12:g.120041230G>T	PDE5A-MAD2L1	Modifier	F-cell numbers	N/A
3643	rs2577720	N/A	NC_000002.12:g.23325743A>C	LOC107985792-KLHL29	Modifier	F-cell numbers	N/A
3644	rs17135859	N/A	NC_000005.10:g.113660957T>C	YTHDC2-KCNN2	Modifier	F-cell numbers	N/A
3645	rs16914695	N/A	NC_000009.12:g.29336305A>G	PDK1P1-ME2P1	Modifier	F-cell numbers	N/A
3648	rs830868	N/A	NC_000005.10:g.52622080G>T	MFSD4BP1-ITGA1	Modifier	F-cell numbers	N/A
3658	rs1949857	N/A	NC_000007.14:g.71006906C>T	AUTS2-GALNT17	Modifier	F-cell numbers	N/A
3659	rs9304395	N/A	NC_000018.10:g.50309414G>T	CXXC1-RNA5SP458	Modifier	F-cell numbers	N/A
3660	rs4395533	N/A	NC_000004.12:g.120560795G>A	SAR1AP3-PRDM5	Modifier	F-cell numbers	N/A
3662	rs6891834	N/A	NC_000005.10:g.171841199C>T	LOC107986476	Modifier	F-cell numbers	N/A
3664	rs10439027	N/A	NC_000018.10:g.62620051T>C	ZCCHC2-RN7SL705P	Modifier	F-cell numbers	N/A
3666	rs2954930	N/A	NC_000012.12:g.11899768G>A	ETV6-BCL2L14	Modifier	F-cell numbers	N/A
3669	rs1442080	N/A	NC_000018.10:g.53658224G>A	RPL29P32-MBD2	Modifier	F-cell numbers	N/A
3670	rs584297	N/A	NC_000001.11:g.226520780T>C	LOC105373115	Modifier	F-cell numbers	N/A
3810	rs3759073	N/A	NG_000007.3:g.60581A>G	HBD-HBBP1	Modifier	Severity	N/A
3829	rs366257	N/A	NC_000011.10:g.5469313C>T	OR51B5	Modifier	Severity	N/A
3830	rs446541	N/A	NC_000011.10:g.5471070A>T	OR51B5	Modifier	Severity	N/A
3831	rs2030090	N/A	NC_000011.10:g.5452863A>G	OR51I2	Modifier	Severity	N/A
3832	rs3886223	N/A	NC_000011.10:g.5322517G>T	OR51B3P-OR51B2	Modifier	Severity	N/A
3858	rs1406811	N/A	NC_000006.12:g.135118989A>C	HBS1L-MYB	Modifier	Hb F levels	N/A
3908	rs201658643	N/A	NC_000022.11:g.34468965_34468966dup	LOC105373012-LOC441996	Modifier	Stroke	N/A
3909	rs10142478	N/A	NC_000014.9:g.21481668C>A	TOX4	Modifier	Stroke	N/A
3999	rs9315599	N/A	NC_000013.11:g.20463469C>G	CRYL1	Modifier	Proteinuria	N/A
4003	rs4903539	N/A	NC_000014.9:g.77066345T>G	LINC02288	Modifier	Abnormal GFR	N/A
4004	rs7526762	N/A	NC_000001.11:g.74527634A>G	FPGT-TNNI3K	Modifier	Abnormal GFR	N/A
4050	rs766003	N/A	NC_000009.12:g.69865524G>A	CFAP95	Modifier	Severity	N/A
4053	rs6443662	N/A	NC_000003.12:g.179633577C>T	NDUFB5-USP13	Modifier	Severity	N/A
4056	rs234915	N/A	NC_000006.12:g.2209343T>G	GMDS	Modifier	Severity	N/A
2116	rs6630120	N/A	NC_000023.11:g.25718363A>G	RANBP1P1-MAGEB18	Modifier	F-cell numbers	N/A
2119	rs12103880	N/A	NC_000017.11:g.9795025G>A	DHRS7C-GLP2R	Modifier	Hb F levels, Hb F response to hydroxyurea	N/A
2591	rs7163836	N/A	NC_000015.10:g.60348029C>T	ANXA2	Modifier	Osteonecrosis/Avascular necrosis	N/A	0
2611	rs2148322	N/A	NC_000001.11:g.91656775A>C	TGFBR3	Modifier	Stroke	N/A	0
3475	rs1176758	N/A	NC_000011.10:g.113899633G>A	HTRB3	Modifier	Acute chest syndrome	N/A	0
3477	rs9927848	N/A	NC_000016.10:g.23821750C>A	CHP2-PRKCB	Modifier	Acute chest syndrome	N/A	0
3479	rs6141803	N/A	NC_000020.11:g.32752550T>C	COMMD7-DNMT3B	Modifier	Acute chest syndrome	N/A	0
3519	rs11859733	N/A	NC_000016.10:g.58297869T>C	PRSS54-RNU6-269P	Modifier	Abnormal red blood cell count	N/A	0
3520	rs8070454	N/A	NC_000017.11:g.40004501C>T	PSMD3-CSF3	Modifier	Abnormal white blood cell count	N/A	0
3526	rs9760319	N/A	NC_000004.12:g.137491375A>G	RPS23P2-PCDH18	Modifier	Abnormal white blood cell count	N/A	0
3531	rs9277053	N/A	NC_000006.12:g.33038445G>A	HLA-DOA-HLA-DPA1	Modifier	Abnormal platelet count	N/A	0
3541	rs7938426	N/A	NC_000011.10:g.5450602A>G	OR51B5	Modifier	Haemolytic anaemia	N/A	0
3542	rs7948471	N/A	NC_000011.10:g.5450516G>A	OR51B5	Modifier	Haemolytic anaemia	N/A	0
3544	rs1526083	N/A	NG_050579.1:g.9354A>G	PIK3CG	Modifier	Acute chest syndrome	N/A	0
3545	rs12536620	N/A	NG_050579.1:g.44506A>G	PIK3CG	Modifier	Acute chest syndrome	N/A	0
3139	rs60684937	N/A	NC_000017.11:g.69422989T>C	MAP2K6	Modifier	EPO levels	NG_029437.1	0
3143	rs4644 (+191 (CCT>CAT) [Pro>His])	N/A	NG_017089.1:g.14001C>A	LGALS3	Modifier	Recurrent respiratory infections	NG_017089.1	14001
3144	rs4652 (+292 ACT>CCT [Thr>Pro])	N/A	NG_017089.1:g.14102A>C	LGALS3	Modifier	Vaso-occlusive crisis, Recurrent respiratory infections	NG_017089.1	14102
3145	rs1984112	N/A	NG_008192.1:g.16417A>G	CD36	Modifier	Vaso-occlusive crisis, Reticulocytosis	NG_008192.1	16417
3146	rs1800587	N/A	NG_008850.1:g.5012C>T	ILA1	Modifier	Pain	NG_008850.1	5012
3150	rs6466533	N/A	NG_011487.1:g.294999A>G	MAGI2	Modifier	Hb F levels	NG_011487.1	294999
3153	rs6590706	N/A	NG_012107.1:g.72498C>T	OPCML	Modifier	Hb F levels	NG_012107.1	72498
3157	rs45496295	N/A	NG_009617.1:g.6420G>A	CEBPE	Modifier	Anaemia	NG_009617.1	6420
3172	rs4527238	N/A	NG_012649.1:g.84516T>C	ANTXR1	Modifier	Hb F levels	NG_012649.1	84516
3263	rs35685045	N/A	NG_012649.1:g.90541C>T	ANTXR1	Modifier	Hb F levels	NG_012649.1	90541
3176	rs9496646	N/A	NG_027676.1:g.16974T>C	FUCA2	Modifier	Left ventricular diastolic dysfunction	NG_027676.1	16974
3178	rs2010963 (-634G/C)	N/A	NG_008732.1:g.5398C>G	VEGFA	Modifier	Vaso-occlusive crisis	NG_008732.1	5398
3179	rs833068 (G398A)	N/A	NG_008732.1:g.9575G>A	VEGFA	Modifier	Vaso-occlusive crisis	NG_008732.1	9575
3339	rs2146323	N/A	NG_008732.1:g.12143C>A	VEGFA	Modifier	Hb F levels, Hb F response to hydroxyurea	NG_008732.1	12143
3338	rs3024997	N/A	NG_008732.1:g.12155G>A	VEGFA	Modifier	Hb F levels	NG_008732.1	12155
3177	rs3025020	N/A	NG_008732.1:g.16158C>T	VEGFA	Modifier	Vaso-occlusive crisis	NG_008732.1	16158
3182	rs113267280	N/A	NG_041939.1:g.69122A>C	CCND3	Modifier	Anaemia	NG_041939.1	69122
3493	rs3218108	N/A	NG_041939.1:g.118978G>A	CCND3	Modifier	Abnormal red blood cell count	NG_041939.1	118978
3186	rs183437571	N/A	NG_032925.2:g.20316C>T	NFIX	Modifier	Hb F levels	NG_032925.2	20316
3193	rs148706947	N/A	NG_012267.1:g.65247G>A	AXIN1	Modifier	Anaemia	NG_012267.1	65247
3580	rs1050828	N/A	NG_009015.2:g.16571G>A	G6PD	Modifier	Stroke	NG_009015.2	16571
3581	rs1050829	N/A	NG_009015.2:g.17296A>T \| NG_009015.2:g.17296A>G	G6PD	Modifier	Stroke	NG_009015.2	17296
3195	rs5030868	N/A	NG_009015.2:g.18154C>T	G6PD	Modifier	Anaemia	NG_009015.2	18154
3207	rs76056952	N/A	NG_033236.1:g.77856G>C	PKD1L2	Modifier	Abnormal GFR	NG_033236.1	77856
3208	rs114990094	N/A	NG_030463.1:g.8143C>T	TOR2A	Modifier	Abnormal GFR	NG_030463.1	8143
3209	rs72765108	N/A	NG_027822.1:g.11259G>T	AGGF1	Modifier	Abnormal GFR	NG_027822.1	11259
3211	rs12094024	N/A	NG_007939.1:g.21183A>C	CYP4B1	Modifier	Abnormal GFR	NG_007939.1	21183
3212	rs61729510	N/A	NG_029826.1:g.21020G>A	CD163	Modifier	Abnormal GFR	NG_029826.1	21020
3585	rs980112	N/A	NG_033271.1:g.7618G>A	KLF10	Modifier	Hb F levels	NG_033271.1	7618
3550	rs3191333	N/A	NG_033271.1:g.10912C>T	KLF10	Modifier	Hb F levels, Response to hydroxyurea	NG_033271.1	10912
3213	rs764833434 (R218Q)	N/A	NG_030361.1:g.7406G>A	SP1	Modifier	Hb F levels	NG_030361.1	7406
3221	rs13080125	N/A	NG_009227.1:g.82390T>C	PAK2	Modifier	Hb F levels	NG_009227.1	82390
3245	rs4696480	N/A	NG_016229.1:g.6686T>A	TLR2	Modifier	Recurrent respiratory infections	NG_016229.1	6686
3254	rs5742909 (-318 C/T)	N/A	NG_011502.1:g.4839C>T	CTLA4	Modifier	Red blood cell alloimmunisation	NG_011502.1	4839
3257	rs231841	N/A	NG_008935.1:g.262384G>T	KCNQ1	Modifier	Anaemia	NG_008935.1	262384
3259	rs2333227 (-463G>A)	N/A	NG_009629.1:g.4535G>A	MPO	Modifier	Recurrent infections	NG_009629.1	4535
3551	FCGR2C.nc-ORF	N/A	NG_011982.1:g.[13259C>T;19253A>G]	FCGR2C	Modifier	Red blood cell alloimmunisation	NG_011982.1	13259, 19253
3303	rs4274224	N/A	NG_008841.1:g.31550C>T	DRD2	Modifier	Vaso-occlusive crisis	NG_008841.1	31550
3328	rs165599	N/A	NC_000022.11:g.19969258G>A	COMT	Modifier	Pain	NG_011526.1	32519
3348	rs73599293	N/A	NG_008678.1:g.625121A>G	LAMA2	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count	NG_008678.1	625121
2677	rs1319868	N/A	NC_000015.10:g.98643750G>T	IGF1R	Modifier	Bacteremia	NG_046911.1	0
3351	rs2271725	N/A	NG_046911.1:g.119852C>A	ITGA11	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count	NG_046911.1	119852
3355	rs34544747	N/A	NG_008318.1:g.14743G>T	MAN2B1	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count	NG_008318.1	14743
3349	rs920829	N/A	NG_033890.1:g.15117G>A	TRPA1	Modifier	Pain	NG_033890.1	15117
3352	rs951781	N/A	NG_012300.1:g.10653G>A	NES	Modifier	Abnormal neutrophil cell number, Abnormal white blood cell count	NG_012300.1	10653
3438	rs12568784	N/A	NC_000001.11:g.152350656G>T	FLG2	Modifier	Leg ulcers	NM_001014342.2	7130
3447	rs35108810	N/A	NC_000013.11:g.32443800T>A	N4BP2L2	Modifier	Hb F response to hydroxyurea	NM_033111.4	0
3448	rs16955011	N/A	NC_000013.11:g.98176963C>T	RNF113B	Modifier	Hb F response to hydroxyurea	NM_178861.5	0
3449	rs55904231	N/A	NC_000007.14:g.2239684G>A	MRM2	Modifier	Hb F response to hydroxyurea	NM_013393.3	0
3450	rs28626308	N/A	NC_000019.10:g.33026609C>T	RHPN2	Modifier	Hb F response to hydroxyurea	NM_033103.5	0
3451	rs17843865	N/A	NG_011844.2:g.38134A>G	ADAR	Modifier	Hb F response to hydroxyurea	NG_011844.2	38134
3452	rs61750777	N/A	NG_051819.1:g.5672C>T	RSPH3	Modifier	Hb F response to hydroxyurea	NG_051819.1	5672
3453	rs11053646	N/A	NG_016743.1:g.16343G>C	OLR1	Modifier	Hb F response to hydroxyurea	NG_016743.1	16343
3454	rs11819496	N/A	NC_000010.11:g.100499576C>G	SEC31B	Modifier	Hb F response to hydroxyurea	NM_015490.4	0
3455	rs34510432	N/A	NC_000019.10:g.18911007C>T	COPE	Modifier	Hb F response to hydroxyurea	NM_001330469.2	0
3456	rs6967330	N/A	NC_000007.14:g.106018005G>A	CDHR3	Modifier	Hb F response to hydroxyurea	NM_152750.5	0
3457	rs3770655	N/A	NC_000002.12:g.67404993C>T	ETAA1	Modifier	Hb F response to hydroxyurea	NM_019002.4	0
3458	rs113596156	N/A	NC_000001.11:g.1179319G>A	TTLL10	Modifier	Hb F response to hydroxyurea	NM_001130045.2	0
3459	rs869801	N/A	NG_033919.2:g.546967G>A	DOCK1	Modifier	Hb F response to hydroxyurea	NG_033919.2	546967
3460	rs899441	N/A	NG_047119.1:g.14532A>G	MYBBP1A	Modifier	Hb F response to hydroxyurea	NG_047119.1	14532
3461	rs116835087	N/A	NC_000017.11:g.62736109C>T	MARCHF10	Modifier	Hb F response to hydroxyurea	NM_001288779.2	0
3462	rs11972142	N/A	NG_052801.1:g.73041A>G	PKD1L1	Modifier	Hb F response to hydroxyurea	NG_052801.1	73041
3463	rs16859886	N/A	NG_016139.1:g.22583C>T	ADCY10	Modifier	Hb F response to hydroxyurea	NG_016139.1	22583
3466	rs10399947	N/A	NC_000001.11:g.150889484G>A	CTXND2	Modifier	Acute chest syndrome	NR_148929.1	0
3467	rs34661029	N/A	NC_000002.12:g.60921853C>G	REL	Modifier	Acute chest syndrome	NM_002908.4	0
3468	rs17749316	N/A	NG_008294.1:g.43268G>C	STAT1	Modifier	Acute chest syndrome	NG_008294.1	43268
3469	rs13021001	N/A	NG_042235.1:g.34942T>C	GPR17	Modifier	Acute chest syndrome	NM_001161415.1	34942
3471	rs3910551	N/A	NG_029729.1:g.96079G>C	ALCAM	Modifier	Acute chest syndrome	NG_029729.1	96079
3472	rs5030094	N/A	NG_016009.1:g.31061T>C	KNG1	Modifier	Acute chest syndrome	NG_016009.1	31061
3473	rs10478813	N/A	NG_008750.1:g.47471C>G	FBN2	Modifier	Acute chest syndrome	NG_008750.1	47471
3474	rs5576	N/A	NG_016148.1:g.12545A>G	NPY	Modifier	Acute chest syndrome	NG_016148.1	12545
3476	rs6309	N/A	NG_013011.1:g.5570T>A	HTR2A	Modifier	Acute chest syndrome	NG_013011.1	5570
3478	rs12447481	N/A	NG_012969.1:g.16095T>G	FTO	Modifier	Acute chest syndrome	NG_012969.1	16095
3508	rs9933611	N/A	NG_012969.1:g.41011A>G	FTO	Modifier	Pain	NG_012969.1	41011
3480	rs16998437	N/A	NG_012857.1:g.401T>G	NOL12	Modifier	Acute chest syndrome	NM_024313.3	401
3497	rs3917296	N/A	NC_000002.12:g.102168373A>G	IL1R1	Modifier	Pain	NM_000877.4	0
3498	rs324035	N/A	NG_008842.2:g.54401T>G	DRD3	Modifier	Pain	NG_008842.2	54401
3499	rs10513478	N/A	NC_000003.12:g.155522876C>T	PLCH1	Modifier	Pain	NM_001130960.2	0
3500	rs11732673	N/A	NC_000004.12:g.2681328A>G	FAM193A	Modifier	Pain	NM_003704.3	0
3501	rs6858735	N/A	NC_000004.12:g.37914606C>T	TBC1D1	Modifier	Pain	NM_015173.4	0
3502	rs13113915	N/A	NC_000004.12:g.186544810G>A	MTNR1A	Modifier	Pain	NM_005958.4	0
3503	rs10942625	N/A	NG_007083.2:g.590532G>A	ADGRV1	Modifier	Pain	NG_007083.2	590532
3504	rs1851426	N/A	NG_008421.1:g.3873T>C	CYP3A4	Modifier	Pain	NG_008421.1	3873
3505	rs7034457	N/A	NG_029445.1:g.117539A>G	PCSK5	Modifier	Pain	NG_029445.1	117539
3506	rs7899453	N/A	NG_012633.1:g.11442C>A	RPS24	Modifier	Pain	NG_012633.1	11442
3507	rs11817401	N/A	NG_029120.1:g.95564G>A	SORCS1	Modifier	Pain	NG_029120.1	95564
3509	rs17101814	N/A	NC_000011.10:g.103991948	PDGFD	Modifier	Pain	NM_033135.4	0
3510	rs445683	N/A	NC_000017.11:g.76405440C>T	UBE2O	Modifier	Pain	NM_022066.4	0
3511	rs7507634	N/A	NC_000019.10:g.10325886C>T	RAVER1	Modifier	Pain	NM_133452.3	0
3512	rs2872817	N/A	NG_028264.1:g.39392A>G	TKTL1	Modifier	Pain	NG_028264.1	39392
3515	rs8176743	N/A	NG_006669.2:g.24188G>A	ABO	Modifier	Abnormal red blood cell count	NG_006669.2	24188
3516	rs2218660	N/A	NC_000002.12:g.46120653T>G	PRKCE	Modifier	Abnormal Hb, Abnormal haematocrit, Abnormal red blood cell count	NM_005400.3	0
3517	rs11153167	N/A	NC_000006.12:g.109301379A>T	CCDC162P	Modifier	Abnormal red blood cell count	NR_152435.1	0
3518	rs2523554	N/A	NG_001113.6:g.3014G>A	DHFRP2	Modifier	Abnormal Hb	NG_001113.6	3014
3521	rs10936603	N/A	NC_000003.12:g.169827864G>T	LRRIQ4	Modifier	Abnormal white blood cell count	NM_001080460.2	0
3522	rs11981340	N/A	NG_015888.1:g.155282A>G	CDK6	Modifier	Abnormal white blood cell count	NG_015888.1	155282
3525	rs3729569	N/A	NG_008958.1:g.35707C>A	MCM6	Modifier	Abnormal white blood cell count	NG_008958.1	35707
3527	rs1977081	N/A	NG_008631.1:g.15510T>C	PNPLA3	Modifier	Abnormal platelet count	NG_008631.1	15510
3528	rs739496	N/A	NG_021216.1:g.48908A>G	SH2B3	Modifier	Abnormal platelet count	NG_021216.1	48908
3529	rs9469032	N/A	NC_000006.12:g.31677649C>G	LY6G5C	Modifier	Abnormal platelet count	NM_025262.3	0
3530	rs13091574	N/A	NG_012136.1:g.8828T>G	THPO	Modifier	Abnormal platelet count	NG_012136.1	8828
3535	rs56381518	N/A	NC_000010.11:g.70170483A>C \| NC_000010.11:g.70170483A>G \| NC_000010.11:g.70170483A>T	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2
3538	rs2394643	N/A	NC_000010.11:g.70151258C>A \| NC_000010.11:g.70151258C>T	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2
4047	rs1470556171	N/A	NC_000010.11:g.70151281A>C	SAR1A	Modifier	Hb F levels	NM_001142648.2
4048	rs1046747	N/A	NC_000010.11:g.70150874G>A	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2
4049	rs80028936	N/A	NC_000010.11:g.70151213GT[1] \| NC_000010.11:g.70151213GT[3]	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2
2917	rs2310991	N/A	NC_000010.11:g.70171890C>A	SAR1A	Modifier	Hb F response to hydroxyurea	NM_001142648.2	0
2918	rs4282891	N/A	NC_000010.11:g.70170313A>G	SAR1A	Modifier	Hb F response to hydroxyurea	NM_001142648.2	0
3532	rs56291099	N/A	NC_000010.11:g.70171322G>A	SAR1A	Modifier	Hb F response to hydroxyurea	NM_001142648.2	0
3533	rs56303718	N/A	NC_000010.11:g.70170898C>A	SAR1A	Modifier	Hb F response to hydroxyurea	NM_001142648.2	0
3534	rs55890525	N/A	NC_000010.11:g.70171015C>A	SAR1A	Modifier	Hb F response to hydroxyurea	NM_001142648.2	0
3539	rs115340990	N/A	NC_000010.11:g.70151008A>G	SAR1A	Modifier	Response to hydroxyurea	NM_001142648.2	0
3706	rs1160065459	N/A	NC_000019.10:g.10148923G>A	DNMT1	Modifier	Hb F levels	NG_028016.3	87364
3584	rs2236599	N/A	NC_000009.12:g.107487224C>T	KLF4	Modifier	Hb F response to hydroxyurea	NM_004235.6
3592	rs9324918	N/A	NG_009062.1:g.52918A>G	NR3C1	Modifier	Pain	NG_009062.1	52918
3591	rs2963155	N/A	NG_009062.1:g.64074T>C	NR3C1	Modifier	Pain	NG_009062.1	64074
3590	rs33389	N/A	NG_009062.1:g.119579G>A	NR3C1	Modifier	Pain	NG_009062.1	119579
3618	rs9722	N/A	NC_000021.9:g.46599326G>A	S100B	Modifier	Pain	NM_006272.3
3619	rs1051169	N/A	NC_000021.9:g.46602317C>G	S100B	Modifier	Pain	NM_006272.3
3620	rs9983698	N/A	NC_000021.9:g.46598630C>T	S100B	Modifier	Pain	NM_006272.3
3621	rs11911834	N/A	NC_000021.9:g.46602608G>T	S100B	Modifier	Pain	NM_006272.3
3625	rs2154586	N/A	NC_000021.9:g.46603603G>A	S100B	Modifier	Osteonecrosis/Avascular necrosis	NM_006272.3
3638	rs1318772	N/A	NG_012265.1:g.105961T>C	MCC	Modifier	F-cell numbers	NG_012265.1	105961
3640	rs3800569	N/A	NC_000007.14:g.138726680C>T	ATP6V0A4	Modifier	F-cell numbers	NG_008145.1	76517
3642	rs2279638	N/A	NC_000001.11:g.220828445G>A	LINC01352	Modifier	F-cell numbers	NR_110797.1
3646	rs11071959	N/A	NG_029143.1:g.228883A>G	MAP2K5	Modifier	F-cell numbers	NG_029143.1	228883
3647	rs3850229	N/A	NC_000006.12:g.147857222G>A	SAMD5	Modifier	F-cell numbers	NM_001030060.3
3649	rs140518	N/A	NC_000022.11:g.50560753C>T	SYCE3	Modifier	F-cell numbers	NM_001123225.3
3650	rs10510789	N/A	NC_000003.12:g.56843760C>T	ARHGEF3	Modifier	F-cell numbers	NM_019555.3
3656	rs2298720	N/A	NG_011775.4:g.48426G>A	SLC14A1	Modifier	Response to hydroxyurea	NG_011775.4	48426
3655	rs1001179	N/A	NG_013339.2:g.4760C>T	CAT	Modifier	Response to hydroxyurea	NG_013339.2	4760
3654	rs7943316	N/A	NG_013339.2:g.5001A>T	CAT	Modifier	Response to hydroxyurea	NG_013339.2	5001
3661	rs7032759	N/A	NC_000009.12:g.131960810T>C	MED27	Modifier	F-cell numbers	NM_004269.4
3665	rs2113120	N/A	NC_000016.10:g.78654247T>C	WWOX	Modifier	F-cell numbers	NG_011698.1	559594
3667	rs757369	N/A	NC_000014.9:g.68506829A>G	RAD51B	Modifier	F-cell numbers	NG_023267.2	692051
3668	rs12412148	N/A	NG_033998.1:g.90878C>T	SVIL	Modifier	F-cell numbers	NG_033998.1	90878
3701	rs9380142	N/A	NG_029039.1:g.9039A>G	HLA-G	Modifier	Gallstones	NG_029039.1	9039
3702	rs2246809	N/A	NC_000012.12:g.10404445A>G	KLRC4-KLRK1	Modifier	Retinopathy	NM_001199805.1
3703	rs2617160	N/A	NC_000012.12:g.10392998A>T	KLRC4-KLRK1	Modifier	Retinopathy	NM_001199805.1
3704	rs2617169	N/A	NC_000012.12:g.10408225T>A	KLRC4-KLRK1	Modifier	Retinopathy	NM_001199805.1
3707	rs56737264	N/A	NC_000002.12:g.15094029A>G	NBAS	Modifier	Red blood cell alloimmunisation	NG_032964.1
3708	rs67088901	N/A	NC_000002.12:g.15102159G>A	NBAS	Modifier	Red blood cell alloimmunisation	NG_032964.1
3709	rs75853687	N/A	NC_000005.10:g.159850278G>A	LINC01847	Modifier	Red blood cell alloimmunisation	NR_109891.1
3741	rs12275279	N/A	NC_000011.10:g.72726251C>A	ARAP1	Modifier	Red blood cell alloimmunisation	NM_001040118.3
3742	rs7123876	N/A	NC_000011.10:g.72733538T>C	ARAP1	Modifier	Red blood cell alloimmunisation	NM_001040118.3
3743	rs12289259	N/A	NC_000011.10:g.72735686A>C \| NC_000011.10:g.72735686A>G	ARAP1	Modifier	Red blood cell alloimmunisation	NM_001040118.3
3744	rs12272109	N/A	NC_000011.10:g.72742805G>A	ARAP1	Modifier	Red blood cell alloimmunisation	NM_001040118.3
3746	rs7122044	N/A	NC_000011.10:g.72751589A>G	ARAP1	Modifier	Red blood cell alloimmunisation	NM_001040118.3
3807	rs483850	N/A	NC_000001.11:g.206916626T>A	FCMR	Modifier	Severity	NM_005449.5
3808	rs934956	N/A	NC_000002.12:g.104480671G>A	LINC01102	Modifier	Severity	NR_015399.1
3809	rs370898	N/A	NC_000003.12:g.21426209C>A	ZNF385D	Modifier	Severity	NM_024697.3
3827	rs10837774	N/A	NC_000011.10:g.5302158G>A	OR51B4	Modifier	Severity	NM_033179.2
3836	rs545537	N/A	NC_000006.12:g.117323878C>T	ROS1	Modifier	Severity	NG_033929.1	106978
3837	rs678343	N/A	NC_000011.10:g.65204160G>C	CAPN1	Modifier	Severity	NG_052817.1
3838	rs638135	N/A	NC_000011.10:g.86474646A>G	ME3	Modifier	Severity	NM_006680.3
3839	rs632538	N/A	NC_000011.10:g.86480651C>T	ME3	Modifier	Severity	NM_006680.3
3840	rs593753	N/A	NC_000011.10:g.72980395T>C	FCHSD2	Modifier	Severity	NM_014824.3
3893	rs9533156	N/A	NC_000013.11:g.42573535T>C	RANKL	Modifier	Reduced bone mineral density	NG_008990.1	15800
3895	rs2073617	N/A	NC_000008.11:g.118952044G>A	OPG	Modifier	Reduced bone mineral density	NG_012202.1	5101
3894	rs2073618	N/A	NC_000008.11:g.118951813G>C	OPG	Modifier	Reduced bone mineral density	NG_012202.1	5332
3900	rs113276800	N/A	NC_000002.12:g.181457493C>A	ITGA4	Modifier	Stroke	NG_050623.1	5602
3899	rs3770138	N/A	NC_000002.12:g.181461180C>T	ITGA4	Modifier	Stroke	NG_050623.1	9289
3901	rs77635018	N/A	NC_000006.12:g.43846990C>A \| NC_000006.12:g.43846990C>G \| NC_000006.12:g.43846990C>T	LINC02537	Modifier	Priapism	NR_149142.1
3902	rs116116525	N/A	NC_000006.12:g.43848086A>G \| NC_000006.12:g.43848086A>T	LINC02537	Modifier	Priapism	NR_149142.1
3903	rs60503510	N/A	NC_000006.12:g.43849865C>T	LINC02537	Modifier	Priapism	NR_149142.1
3904	rs190103771	N/A	NC_000003.12:g.175698311A>G	NAALADL2	Modifier	Priapism	NM_207015.3
3906	rs6930487	N/A	NC_000006.12:g.143540230G>A	PHACTR2	Modifier	Stroke	NM_001100164.2
3907	rs1557759	N/A	NC_000005.10:g.130208414A>G	CHSY3	Modifier	Stroke	NM_175856.5
3910	rs2250806	N/A	NC_000001.11:g.84130407A>G	PRKACB	Modifier	Stroke	NG_029728.1
3921	rs964184	N/A	NC_000011.10:g.116778201G>C	ZPR1	Modifier	N/A	NM_003904.5
3978	rs772591609 (p.Arg7Ter)	N/A	NC_000019.10:g.19465364C>T, NC_000019.10(NM_017660.5):c.19C>T	GATAD2A	Modifier	Hb F levels	NM_001384528.1
4000	rs2238104	N/A	NC_000012.12:g.6078499G>T	VWF	Modifier	Proteinuria	NG_009072.2	51172
4001	rs3743057 (NP_055087.2:p.Val248=)	N/A	NC_000015.10:g.78796665T>C	ADAMTS7	Modifier	Proteinuria	NG_011492.1	19767
4002	rs1968911	N/A	NC_000002.12:g.140335313A>G	LRP1B	Modifier	Abnormal GFR	NG_051023.1	1802151
4051	rs1563408	N/A	NC_000007.14:g.114663134G>A	FOXP2	Modifier	Severity	NG_007491.3
4052	rs903047	N/A	NC_000003.12:g.131033165A>G	NEK11	Modifier	Severity	NG_029225.1
4054	rs950310	N/A	NC_000004.12:g.9841226T>A	SLC2A9	Modifier	Severity	NG_011540.2
4055	rs258824	N/A	NC_000005.10:g.143217725C>T	ARHGAP26	Modifier	Severity	NG_016711.2

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