IthaGenes

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Showing all entries with Unstable phenotype (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
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
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
451	CD 7 AAG>AGG [Lys>Arg]	Hb Guanajuato	HBA2:c.23A>G	α2	Causative	α-chain variant	NG_000006.1	33798
2433	CD 13-14 -GCCTGG [-Ala-Trp]	Hb Souli	HBA2:c.40_45delGCCTGG	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	33815
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
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
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
497	CD 27 GAG>GTG [Glu>Val]	Hb Spanish Town	HBA2:c.83A>T	α2	Causative	α-chain variant	NG_000006.1	33858
506	CD 31 AGG>AGC [Arg>Ser]	Hb Prato	HBA2:c.96G>C	α2	Causative	α-chain variant	NG_000006.1	33988
3362	CD 34 CTG>CCG [Leu>Pro]	Hb Bass Hill	HBA2:c.104T>C	α2	Causative	α-chain variant	NG_000006.1	33996
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
514	CD 37 CCC>CTC [Pro>Leu]	Hb Manawatu	HBA2:c.113C>T	α2	Causative	α-chain variant	NG_000006.1	34005
516	CD 37 +GAA [+Glu]	Hb Catonsville	HBA1:c.114_115insGAA \| HBA2:c.114_115insGAA	α1 or α2	Causative	α-chain variant	NG_000006.1	34006, 37810
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
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
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
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
2535	CD 48-54 -18 bp	Hb Fenton	HBA2:c.146_163delTGAGCCACGGCTCTGCCC	α2	Causative	α-chain variant	NG_000006.1	34038
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
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
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
583	CD 62 GTG>ATG [Val>Met]	Hb Evans	HBA2:c.187G>A	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34079
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
611	CD 75 (-GAC)	Hb Watts	HBA2:c.226_228del	α2	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34118
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
635	CD 83 CTG>CCG [Leu>Pro]	Hb Les Andelys	HBA2:c.251T>C	α2	Causative	α-chain variant	NG_000006.1	34143
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
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
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
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
669	CD 92 CGG>CTG [Arg>Leu]	Hb Chesapeake	HBA2:c.278G>T	α2	Causative	α-chain variant	NG_000006.1	34170
673	CD 94 GAC>TAC [Asp>Tyr]	Hb Setif	HBA2:c.283G>T	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
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
683	CD 95 CCG>CTG [Pro>Leu]	Hb G-Georgia	HBA2:c.287C>T	α2	Causative	α-chain variant	NG_000006.1	34179
686	CD 96 GTC>GAC [Val>Asp]	Hb El Escorial	HBA2:c.290T>A	α2	Causative	α-chain variant	NG_000006.1	34182
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
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
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
3056	CD 104 TGC>AGC [Cys>Ser]	Hb Oegstgeest	HBA2:c.313T>A	α2	Causative	α-thalassaemia, α-chain variant	NG_000006.1	34347
3583	CD 106 CTG>CGG [Leu>Arg]	Hb Beckett	HBA2:c.320T>G	α2	Causative	α-chain variant	NG_000006.1	34354
398	CD 109 (-C)	Hb Sciacca	HBA1:c.328delC	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	34362
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
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
734	CD 124 TCC>CCC [Ser>Pro]	Hb Policoro	HBA2:c.373T>C	α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34407
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
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
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
785	CD 142 TAA>CAA>CAT	Hb Zurich-Altstetten	HBA2:c.[427T>C;429A>T]	α2	Causative	α-chain variant	NG_000006.1	34461
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
435	CD 2 CTG>CGG [Leu>Arg]	Hb Chongqing	HBA1:c.8T>G	α1	Causative	α-chain variant	NG_000006.1	37587
468	CD 16 AAG>ATG [Lys>Met]	Hb Harbin	HBA1:c.50A>T	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37629
3000	CD 18 GGC>AGC [ Gly>Ser]	Hb King Ecgbert	HBA1:c.55G>A	α1	Causative	α-chain variant	NG_000006.1	37634
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
509	CD 34 CTG>CGG [Leu>Arg] (Hb Ogi)	Hb Queens	HBA1:c.104T>G	α1	Causative	α-chain variant	NG_000006.1	37800
371	CD 39 (-ACC) [-Thr]	Hb Taybe	HBA1:c.118_120del	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37814
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
553	CD 51 GGC>AGC [Gly>Ser]	Hb Riccarton	HBA1:c.154G>A	α1	Causative	α-chain variant	NG_000006.1	37850
556	CD 52-59 (-24 bp)	Hb J-Biskra	HBA1:c.157_180del	α1	Causative	α-chain variant	NG_000006.1	37853
3560	CD 52 TCT>TGT [Ser>Cys]	Hb Dongguan	HBA1:c.158C>G	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37854
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
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
383	CD 64-74 (-33 bp)	N/A	HBA1:c.193_225del33	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37889
597	CD 68 +GCGCTGACCAAC [+Ala-Leu-Thr-Asn]	Hb Esch	HBA1:c.207_208insGCGCTGACCAAC	α1	Causative	α-chain variant	NG_000006.1	37904
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
637	CD 84 AGC>AGA [Ser>Arg]	Hb Etobicoke	HBA1:c.255C>A	α1	Causative	α-chain variant	NG_000006.1	37949
4098	CD 86 CTG>CCG [Leu>Pro]	Hb Thessaloniki	HBA1:c.260T>C	α1	Causative	α-chain variant	NG_000006.1	37956
649	CD 87 CAC>CCC [His>Pro]	Hb Grifton	HBA1:c.263A>C	α1	Causative	α-chain variant	NG_000006.1	37959
3852	CD 93 GTG>ATG [Val>Met]	Hb Qingcheng	HBA1:c.280G>A	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37976
2539	IVS II-3 (+21bp)	Hb SKMC	HBA1:c.283_300+3dup	α1	Causative	α-thalassaemia, α-chain variant, Haemolytic anaemia	NG_000006.1	37979
678	CD 94 GAC>GGC [Asp>Gly]	Hb Çapa	HBA1:c.284A>G	α1	Causative	α-chain variant	NG_000006.1	37980
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
4093	CD 95 (-C)	Hb Campania	HBA1:c.287delC	α1	Causative	α-thalassaemia, α-chain variant	NG_000006.1	37983
691	CD 99 AAG>AAT [Lys>Asn] (Hb Harlow)	Hb Beziers	HBA1:c.300G>T	α1	Causative	α-chain variant	NG_000006.1	37996
693	CD 102 AGC>AGA [Ser>Arg]	Hb Manitoba II	HBA1:c.309C>A	α1	Causative	α-chain variant	NG_000006.1	38154
2532	CD 103 CAC>GAC [His>Asp]	Hb Illinois	HBA1:c.310C>G	α1	Causative	α-chain variant	NG_000006.1	38155
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
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
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
723	CD 118-119 +9 bp [+Glu-Phe-Thr] (Hb Dakar)	Hb Grady	HBA1:c.349_357dup	α1	Causative	α-chain variant	NG_000006.1	38194
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
729	CD 122 CAC>TAC [His>Tyr]	Hb Yanase	HBA1:c.367C>T	α1	Causative	α-chain variant	NG_000006.1	38212
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
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
1449	CD 101 GAG>AAG	Hb F-La Grange	HBG2:c.304G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43313
3891	CD 119 GGC>CGC [Gly>Arg]	Hb F-Pill Hill	HBG2:c.358G>C	Gγ	Causative	γ-chain variant	NG_000007.3	44253
1458	CD 130 TGG>GGG	Hb F-Poole	HBG2:c.391T>G	Gγ	Causative	γ-chain variant	NG_000007.3	44286
3950	CD 140 GCC>GAC [Ala>Asp]	Hb F-Wyandotte	HBG2:c.422C>A	Gγ	Causative	γ-chain variant	NG_000007.3	44317
1468	CD 25 GGA>CGA	Hb F-Xinjiang	HBG1:c.76G>C	Aγ	Causative	γ-chain variant	NG_000007.3	47887
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
2292	CD 19 AAC>AAA [Asn>Lys]	Hb Famagusta	HBD:c.60C>A	δ	Causative	δ-thalassaemia, δ-chain variant	NG_000007.3	63242
3387	CD 36 CCT>CGT [Pro>Arg]	Hb A2-Sanremo	HBD:c.110C>G	δ	Causative	δ-chain variant	NG_000007.3	63420
3383	CD 91 CTG>CCG [Leu>Pro]	Hb A2-Courbevoie	HBD:c.275T>C	δ	Causative	δ-chain variant	NG_000007.3	63585
3546	CD 130 TAT>-AT	Hb A2-Gaslini 1	HBD:c.391delT	δ	Causative	δ-chain variant	NG_000007.3	64599
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
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
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
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
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
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
828	CD 7 (-GAG) [-Glu] (Hb Xinyi)	Hb Leiden	HBB:c.22_24delGAG	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
840	CD 10 GCC>ACC [Ala>Thr]	Hb Belleville	HBB:c.31G>A	β	Causative	β-chain variant	NG_000007.3	70625
844	CD 11 GTT>TTT	Hb Washtenaw	HBB:c.34G>T	β	Causative	β-chain variant	NG_000007.3	70628
3297	CD 11-13 (-9bp): (-GTTACTGCC)	Hb JC-Paz	HBB:c.34_42delGTTACTGCC	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
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
857	CD 17 AAG>CAG (Hb Nicosia)	Hb Nikosia	HBB:c.52A>C	β	Causative	β-chain variant	NG_000007.3	70646
855	CD 17-19 (-GGTGAA)	Hb Lyon	HBB:c.54_59del	β	Causative	β-chain variant	NG_000007.3	70648
860	CD 18 GTG>GGG	Hb Sinai-Baltimore	HBB:c.56T>G	β	Causative	β-chain variant	NG_000007.3	70650
864	CD 20 GTG>ATG	Hb Olympia	HBB:c.61G>A	β	Causative	β-chain variant	NG_000007.3	70655
871	CD 21 GAT>GTT	Hb Rocky Mountain	HBB:c.65A>T	β	Causative	β-chain variant	NG_000007.3	70659
872	CD 22-26 (-12bp)	Hb Olinda	HBB:c.69_80delAGTTGGTGGTGA	β	Causative	β-chain variant	NG_000007.3	70663
880	CD 23 GTT>TTT	Hb Palmerston North	HBB:c.70G>T	β	Causative	β-chain variant	NG_000007.3	70664
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
878	CD 23/24 (GTTGGT>GGT)	Hb Freiburg	HBB:c.71_73del	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
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
889	CD 25 GGT>GAT	Hb J-Auckland	HBB:c.77G>A	β	Causative	β-chain variant	NG_000007.3	70671
3306	CD 25/26 -GTG [-Gly] (Hb Higashitochigi, Hb HT)	Hb M Dothan	HBB:c.77_79delGTG	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
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
893	CD 26 GAG>GGG	Hb Aubenas	HBB:c.80A>G	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
898	CD 27 GCC>GAC	Hb Volga	HBB:c.83C>A	β	Causative	β-chain variant	NG_000007.3	70677
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
905	CD 29 GGC>GAC	Hb Lufkin	HBB:c.89G>A	β	Causative	β-chain variant	NG_000007.3	70683
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
125	CD 30/31 +CGG [+Arg]	N/A	HBB:c.93_94insCGG	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	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
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
915	CD 32 CTG>CGG [Leu>Arg]	Hb Castilla	HBB:c.98T>G	β	Causative	β-chain variant	NG_000007.3	70822
3364	CD 33 GTG>TTG [Val>Leu]	Hb Venissieux	HBB:c.100G>T	β	Causative	β-chain variant	NG_000007.3	70824
131	CD 33-35 (-TGGTCT)	Hb Dresden	HBB:c.101_106delTGGTCT	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70825
129	CD 33/34 (GTGGTC>GTC)	Hb Korea	HBB:c.102_104del	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70826
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
922	CD 35 TAC>TTC [Tyr>Phe]	Hb Philly	HBB:c.107A>T	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70831
923	CD 36 CCT>ACT	Hb Linköping	HBB:c.109C>A	β	Causative	β-chain variant	NG_000007.3	70833
932	CD 38 ACC>CCC	Hb Hazebrouck	HBB:c.115A>C	β	Causative	β-chain variant	NG_000007.3	70839
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
2544	CD 40 AGG>ACG [Arg>Thr]	Hb Alcorn County	HBB:c.122G>C	β	Causative	β-chain variant	NG_000007.3	70846
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
945	CD 42 (-TTT)	Hb Bruxelles	HBB:c.127_129delTTT	β	Causative	β-chain variant	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
946	CD 43-46 (-9bp)	Hb Niteroi	HBB:c.131_139del	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70855
954	CD 44 TCC>TGC	Hb Mississippi	HBB:c.134C>G	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
957	CD 45 TTT>TGT	Hb Arta	HBB:c.137T>G	β	Causative	β-chain variant	NG_000007.3	70861
961	CD 47 GAT>CAT [Asp>His]	Hb Maryland	HBB:c.142G>C	β	Causative	β-chain variant	NG_000007.3	70866
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
969	CD 49 TCC>TTC	Hb Las Palmas	HBB:c.149C>T	β	Causative	β-chain variant	NG_000007.3	70873
974	CD 51 CCT>CGT	Hb Willamette	HBB:c.155C>G	β	Causative	β-chain variant	NG_000007.3	70879
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
983	CD 54 GTT>GAT	Hb Jacksonville	HBB:c.164T>A	β	Causative	β-chain variant	NG_000007.3	70888
984	CD 55 ATG>AAG	Hb Matera	HBB:c.167T>A	β	Causative	β-chain variant	NG_000007.3	70891
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
989	CD 56-60 (-12bp)	Hb Tochigi	HBB:c.170_181del	β	Causative	β-chain variant	NG_000007.3	70894
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
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
3298	CD 60-61 (-6bp): (-TGAAGG)	Hb Tavapy	HBB:c.182_187delTGAAGG	β	Causative	β-chain variant	NG_000007.3	70906
1006	CD 62 GCT>CCT	Hb Duarte	HBB:c.187G>C	β	Causative	β-chain variant	NG_000007.3	70911
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
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
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
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
1025	CD 67 GTG>GCG	Hb Sydney	HBB:c.203T>C	β	Causative	β-chain variant	NG_000007.3	70927
1029	CD 69 (+GCTCGG)	Hb Nishinomiya	HBB:c.204_209dupGCTCGG	β	Causative	β-chain variant	NG_000007.3	70928
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
1033	CD 70 GCC>CCC [Ala>Pro]	Hb Abington	HBB:c.211G>C	β	Causative	β-chain variant, Haemolytic anaemia	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
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
1043	CD 73-75 (-GATGGCCTG; + Ala-Arg-Cys-Gln)	Hb Montreal	HBB:c.220_228delinsGCTCGGTGCCAG	β	Causative	β-chain variant	NG_000007.3	70944
1046	CD 74 GGC>CGC [Gly>Arg]	Hb Aalborg	HBB:c.223G>C	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70947
1044	CD 74-76 (-GCCTGG)	Hb Saint-Antoine	HBB:c.224_229delGCCTGG	β	Causative	β-chain variant	NG_000007.3	70948
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
1050	CD 75 CTG>CCG; CD 141 (-CTG)	Hb Atlanta-Coventry	HBB:c.[227T>C;424_426delCTG]	β	Causative	β-chain variant	NG_000007.3	70951
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
1057	CD 77 CAC>TAC	Hb Fukuyama	HBB:c.232C>T	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
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
1078	CD 83 GGC>TGC [Gly>Cys]	Hb Ta-Li	HBB:c.250G>T	β	Causative	β-chain variant	NG_000007.3	70974
1080	CD 84 ACC>GCC	Hb Saale	HBB:c.253A>G	β	Causative	β-chain variant	NG_000007.3	70977
3323	CD 85 TTT>CTT [Phe>Leu]	Hb San Martin	HBB:c.256T>C	β	Causative	β-chain variant	NG_000007.3	70980
1083	CD 85 TTT>TCT (Hb Bryn Mawr)	Hb Buenos Aires	HBB:c.257T>C	β	Causative	β-chain variant	NG_000007.3	70981
1087	CD 87 (-ACA)	Hb Tours	HBB:c.262_264delACA	β	Causative	β-chain variant	NG_000007.3	70986
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
1097	CD 90 GAG>AAG	Hb Agenogi	HBB:c.271G>A	β	Causative	β-chain variant	NG_000007.3	70995
1118	CD 94/95 +15 bp [+Glu-Leu-His-Cys-Asp]	Hb Fairfax	HBB:c.271_285dupGAGCTGCACTGTGAC	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70995
1098	CD 90 GAG>GGG	Hb Roseau-Pointe a Pitre	HBB:c.272A>G	β	Causative	β-chain variant	NG_000007.3	70996
1124	CD 95/96 (+15 bp)	Hb Koriyama	HBB:c.274_288dup	β	Causative	β-chain variant	NG_000007.3	70998
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
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
1100	CD 93-97 (-15 bp)	Hb Gun Hill \| Hb GH	HBB:c.280_294delTGTGACAAGCTGCAC	β	Causative	β-chain variant	NG_000007.3	71004
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
2441	CD 93 TGT>TGG [Cys>Trp]	Hb Santa Giusta Sardegna	HBB:c.282T>G	β	Causative	β-chain variant	NG_000007.3	71006
1123	CD 96 CTG>CCG	Hb Debrousse	HBB:c.290T>C	β	Causative	β-chain variant	NG_000007.3	71014
1125	CD 97/98 (-ACG)	Hb Galicia	HBB:c.293_295delACG	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
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
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
2412	CD 100 CCT>TCT [Pro>Ser]	Hb Niort	HBB:c.301C>T	β	Causative	β-chain variant	NG_000007.3	71025
1145	CD 101 GAG>CAG	Hb Rush	HBB:c.304G>C	β	Causative	β-chain variant	NG_000007.3	71028
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
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
1162	CD 104 AGG>AGC [Arg>Ser]	Hb Camperdown	HBB:c.315G>C	β	Causative	β-chain variant	NG_000007.3	71039
209	IVS II-535 - CD 108 (+23, -310, +28)	Hb Jambol	HBB:c.[316-300_327delinsCAGGTGCCATCTGTCACCCTTTTCTTTG;316-316_316-315insAATATATTTTTAATATACTTTTT]	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71590
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
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
1172	CD 108 AAC>ATC	Hb Schlierbach	HBB:c.326A>T	β	Causative	β-chain variant	NG_000007.3	71900
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
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
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
1185	CD 112 TGT>TGG	Hb Toranomon	HBB:c.339T>G	β	Causative	β-chain variant	NG_000007.3	71913
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
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
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
1197	CD 116 CAT>CCT [His>Pro]	Hb Miami	HBB:c.350A>C	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71924
1205	CD 117 CAC>CCC	Hb Saitama	HBB:c.353A>C	β	Causative	β-chain variant	NG_000007.3	71927
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
1215	CD 120 AAA>ATA	Hb Jianghua	HBB:c.362A>T	β	Causative	β-chain variant	NG_000007.3	71936
1223	CD 122 TTC>TCC [Phe>Ser]	Hb Caruaru	HBB:c.368T>C	β	Causative	β-chain variant	NG_000007.3	71942
245	CD 123 (-A) >156aa	Hb Makabe	HBB:c.370delA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71944
1230	CD 124 CCA>CGA [Pro>Arg]	Hb Khartoum	HBB:c.374C>G	β	Causative	β-chain variant	NG_000007.3	71948
249	CD 125 (-A) >156aa	N/A	HBB:c.378delA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71952
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
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
256	CD 127/128 -AGG [Glu-Ala>Pro]	Hb Gunma	HBB:c.383_385delAGG	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71957
257	CD 128/129 (-4, +5, -11 bp) >153aa	N/A	HBB:c.[385_388delinsCCACA;397_407delAAAGTGGTGGC]	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71959
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
1248	CD 130 TAT>GAT	Hb Wien	HBB:c.391T>G	β	Causative	β-chain variant	NG_000007.3	71965
1250	CD 130 TAT>TCT	Hb Nevers	HBB:c.392A>C	β	Causative	β-chain variant	NG_000007.3	71966
1252	CD 131 CAG>AAG	Hb Shelby	HBB:c.394C>A	β	Causative	β-chain variant	NG_000007.3	71968
1254	CD 131 CAG>CCG	Hb Shanghai	HBB:c.395A>C	β	Causative	β-chain variant	NG_000007.3	71969
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
1262	CD 133 GTG>GCG	Hb Renert	HBB:c.401T>C	β	Causative	β-chain variant	NG_000007.3	71975
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
1266	CD 135 GCT>GAT [Ala>Asp]	Hb Beckman	HBB:c.407C>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71981
3034	CD 137 GTG>TGG [Val>Trp]	Hb Allentown	HBB:c.412_413delinsTG	β	Causative	β-chain variant	NG_000007.3	71986
264	CD 137-139 (-TGGCTA) Val-Ala-Asn to Asp	Hb Stara Zagora	HBB:c.413_418delTGGCTA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71987
1274	CD 138 GCT>CCT [Ala>Pro]	Hb Brockton	HBB:c.415G>C	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71989
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
2282	CD 139/140 +T [163 aa]	Hb Boston-Kuwait	HBB:c.420dupT	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71994
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
1287	CD 141 (-CTG)	Hb Coventry	HBB:c.424_426delCTG	β	Causative	β-chain variant	NG_000007.3	71998
1288	CD 141-144 (-TGGCCCACA)	Hb Birmingham	HBB:c.425_433delTGGCCCACA	β	Causative	β-chain variant	NG_000007.3	71999
1289	CD 141 CTG>CGG	Hb Olmsted	HBB:c.425T>G	β	Causative	β-chain variant	NG_000007.3	71999
1292	CD 142 GCC>CCC	Hb Toyoake	HBB:c.427G>C	β	Causative	β-chain variant	NG_000007.3	72001
1294	CD 143 (-A)	Hb Saverne	HBB:c.431delA	β	Causative	β-chain variant	NG_000007.3	72005
1302	CD 144 (-A)	Hb Trento	HBB:c.434delA	β	Causative	β-chain variant	NG_000007.3	72008
1306	CD 145 (+CT)	Hb Cranston	HBB:c.436_437insCT	β	Causative	β-chain variant	NG_000007.3	72010
1319	CD 146/147 (+AC)	Hb Tak	HBB:c.440_441dupAC	β	Causative	β-chain variant	NG_000007.3	72014
3697	CD 147 TAA>ΑAA [Stop>Lys]	Hb Mokum	HBB:c.442T>A	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	72016
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

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