IthaGenes

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Showing all entries involving gene β (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
2548	Inv-Del English V	N/A	NC_000011.10:g.5194460_5253454invdel5194460_5194542del5253454_5375965	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3
3112	African II duplication	N/A	NC_000011.10:g.5268938_5268939ins4619102_(5180070_5183700)ins(5216190_5222040)_5268938	ε, Aγ, Gγ, δ, β, pseudo β	Neutral	N/A	NG_000007.3
3393	3.5 kb deletion (Thai, 3485 bp deletion)	N/A	NC_000011.10:g.5224302_5227791del3490bp	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3
3570	1.78Mb εγδβ(0) del (Bedouin)	N/A	NC_000011.10:g.(4302665_4322227)_(6099443_6100105)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3
3578	2.2 Mb deletion	N/A	NC_000011.10:g.4052720_6253287del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3
3955	Siriraj I Gγ(Aγδβ)0 (~118 kb del)	N/A	N/A	Aγ, δ, β	Causative	δβ-thalassaemia	NG_000007.3
1400		Hb Lepore-Leiden	N/A	δ, β	Causative	δβ-thalassaemia	NG_000007.3
1404	(Hb Anti-Lepore Hong Kong)	Hb Hong Kong	NG_000007.3:g.63160_70572dup	δ, β	Causative	δ-chain variant	NG_000007.3
1405	(Hb Anti-Lepore P-Nilotic)	Hb P-Nilotic	NG_000007.3:g.63461_70874dup	δ, β	Causative	δ-chain variant	NG_000007.3
1525	Belgian (Aγδβ)0	N/A	NC_000011.10:g.(5200077_5215844)_(5249806_5251160)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3
2159	(εγδβ)0 with α triplication	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3
2418	Swiss (εγδβ)0	N/A	NC_000011.10:g.(4002734_4002784)_ (6907712_6907762)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia, Haemolytic anaemia	NG_000007.3
291	Czech (4237 bp deletion)	N/A	NG_000007.3:g.67258_71501del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	0
293	Cape Verdean	N/A	NG_000007.3:g.71548_79271del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	0
294	Asian Indian (10329 bp deletion)	N/A	NG_000007.3:g.(67531_67533)_(77874_77876)del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	0
295	Australian (Anglo Saxon) (12023 bp deletion)	N/A	NC_000011.10:g.5215894_5227926del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	0
299	Italian (~67 kb deletion)	N/A	N/A	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	0
1502	Italian 1 (HPFH-4)	N/A	N/A	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	0
1503	Italian 2, Sicilian (HPFH-5)	N/A	NC_000011.10:g.59893_72818del	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	0
1511	East European (δβ)0	N/A	NG_000007.3:g.61566_70708del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	0
1514	Macedonian/Turkish (δβ)0 (Turkish type 2 (δβ)0 \| Turkish Inv/Del (δβ)0)	N/A	N/A	δ, β	Causative	δβ-thalassaemia	NG_000007.3	0
1515	Turkish (δβ)0 (Turkish type 3 (δβ)0)	N/A	N/A	δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1516	Leiden 7.4 kb (δβ)0	N/A	NG_000007.3:g.(59658_64667)_(72019_81668)del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	0
1517	Thai 11.3 (δβ)0	N/A	NG_000007.3:g.60045_71313delinsTACATTAAGAGATACCTTAATG	δ, β	Causative	δβ-thalassaemia, Hb F levels	NG_000007.3	0
1518	Japanese 2 (δβ)0	N/A	NG_000007.3:g.52036_78987del	δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1519	Indian (Aγδβ)0 (inv) (Asian-Indian Inv/Del Gγ(Aγδβ)0)	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1521	Cantonese (Aγδβ)0	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1522	Malaysian-1 (Aγδβ)0	N/A	N/A	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1528	Yunnanese (Aγδβ)0	N/A	NC_000011.10:g.5182845_5249973del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1531	Canadian (Aγδβ)0	N/A	NC_000011.10:g.5196589_5251715delinsTA	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1532	Leiden 69.5	N/A	NC_000011.10:g.(5167906_5178684)_(5248184_5251232)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1533	49.3 kb Gγ(Aγδβ)0 Asian del	N/A	NC_000011.10:g.5201244_5250542del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	0
1534	Anglo-Saxon (εγδβ)0	N/A	NC_000011.8:g.5204501_5300223del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1535	Irish (εγδβ)0	N/A	NC_000011.8:g.5110112_5312961del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1536	Canadian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1537	Scottish - Irish	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1539	Mexican (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1541	Croatian (εγδβ)0	N/A	NC_000011.10:g.(5151491_5158092)_(5285862_5295096)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1544	English III	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1545	English IV	N/A	NC_000011.10:g.5156866_5595894del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1546	Chilean	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1547	Dutch II	N/A	NC_000011.10:g.(?_4999945)_(5409809_5430440)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B5, OR51M1	Causative	εγδβ-thalassaemia	NG_000007.3	0
1551	Dutch VI	N/A	NC_000011.10:g.(?_5227218)_(5373082_5382848)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1552	Japanese	N/A	NC_000011.10:g.4600605_6019332delinsCACTTGGTTATGATGTATT	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
1553	French	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
2123	7719 bp deletion	N/A	NG_000007.3:g.71550_79270del7719	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	0
2158	Pakistani I	N/A	NC_000011.10:g.5194461_5700474delins[250inv]	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
2167	Asian Indian (εγδβ)0	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
2419	Senegalese δ(0)β(+)	N/A	NG_000007.3:g.(63154_63209)_(70570_70625)del7417	δ, β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	0
2497	49.98 kb (δβ)0 Indian del (HPFH-9)	N/A	NC_000011.10:g.5194285_5244267del	δ, β, pseudo β	Causative	HPFH, Hb F levels	NG_000007.3	0
2498	86.7 kb (Αγδβ)0 Indian del (HPFH-10)	N/A	NC_000011.10:g.5164124_5250830delinsTG	Aγ, δ, β, pseudo β	Causative	HPFH, Hb F levels	NG_000007.3	0
2550	African I duplication	N/A	NC_000011.10: g.5372677_5372678insCACCTCCACTTdup5226885_5372677	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Neutral	N/A	NG_000007.3	0
2551	Austrian I	N/A	N/A	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
3073	Italian (εγδβ)0 deletion	N/A	NC_000011.10:g.[5194397_5357192del;5194356_5194401insAGCTAAAGGTTTTGTAAATGCACCAATCAGCAATCTGTGTCTAACTC]	ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	0
3340	Brazilian (εγδβ)0	N/A	NC_000011.10:g.(5106498_5151836)_(5324046_5390135)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β, OR51V1, OR51B2	Causative	εγδβ-thalassaemia	NG_000007.3	0
3390	βδβ hybrid	Hb Palencia	N/A	δ, β	Causative	β-chain variant	NG_000007.3	0
3483	CD 121 GAA>-AA	Hb Mahasarakham	HBB:c.364delG	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	6394
3849	~72 kb εγδβ(0) del	N/A	NC_000011.10:g.(5200032_5215881)_(5288356_5295076)del	βLCR, ε, Aγ, Gγ, δ, β, pseudo β	Causative	εγδβ-thalassaemia	NG_000007.3	9260
3270	Chinese I (εγδβ)0	N/A	NC_000011.10:g.5036736_5270337del	ε, Aγ, Gγ, δ, β, pseudo β, OR51V1	Causative	εγδβ-thalassaemia	NG_000007.3	27279
3573	rs3834466	N/A	NG_000007.3:g.27282dup	β	Neutral	N/A	NG_000007.3	27282
3869	>29.5 Kb duplication	N/A	NG_000007.3:g.(27675_41485)_(71150_72080)dup	Aγ, Gγ, δ, β, pseudo β	Causative	β-thalassaemia	NG_000007.3	41485
2149	N/A (Hb Gγ-β Ulsan)	Hb Ulsan	NG_000007.3:g.42946_70654del	Aγ, Gγ, δ, β, pseudo β	Causative	β-chain variant	NG_000007.3	42946
3835	78.9 kb Gγ(Aγδβ)0 del	N/A	NC_000011.10:g.5169895_5248821delins5216274_5216309	Aγ, δ, β, pseudo β, OR52Z1-OR51V1	Causative	δβ-thalassaemia	NG_000007.3	43875
1524	Turkish (Aγδβ)0	N/A	NG_000007.3:g.45410_81665del36256	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	45410
1504	SE Asian, Thai (Aγδβ)0 (HPFH-6)	N/A	NC_000011.10:g.5172745_5252029	Aγ, δ, β, pseudo β, OR51V1, OR52Z1-OR51V1	Causative	δβ-thalassaemia, Hb F levels	NG_000007.3	45587
1520	German (Aγδβ)0	N/A	NC_000011.10:g.(5197976_ 5198976)_(5251297_5251694)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	45922
1523	Malaysian-2 (Aγδβ)0	N/A	NC_000011.10:g.(5207467_5208467)_(5250061_5250240)del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	47376
1530	Italian (Aγδβ)0	N/A	NC_000011.10:g.5194458_5249516del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	48100
1498	(HPFH-7, Kenya)	Hb Kenya	NG_000007.3:g.48194_70985del	Aγ, δ, β, pseudo β	Causative	β-chain variant, Hb F levels	NG_000007.3	48194
1527	Chinese (Aγδβ)0	N/A	NC_000011.10:g.5169918_5248821del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	48795
1526	Black (Aγδβ)0	N/A	NC_000011.10:g.5212727_5248576del	Aγ, δ, β, pseudo β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	49040
1506	Indian (δβ)0 (32.6 kb GγΑγ(δβ)0 Indian del)	N/A	NC_000011.10:g.5214461_5247124del	δ, β, pseudo β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	50492
1508	Japanese (δβ)0	N/A	NC_000011.10:g.5132468_5246133del	δ, β, pseudo β	Causative	δβ-thalassaemia	NG_000007.3	51483
1501	Indian HPFH-3	N/A	NC_000011.10:g.5194459_5244226del	δ, β, pseudo β	Causative	HPFH, Hb F levels	NG_000007.3	53390
1500	Ghanaian (HPFH-2)	N/A	NC_000011.10:g.5158438_5242749del	δ, β, pseudo β	Causative	HPFH, Hb F levels	NG_000007.3	54867
2156	Algerian HPFH deletion	N/A	NG_000007.3:g.57141_81002del; 81008delA	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	57141, 81008
2155	French West-Indies deletion/insertion (French West-Indies HPFH deletion)	N/A	NG_000007.3:g.57155_80887delinsCAGCAGGAAAGTGAGAAG	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	57155
110	IVS I-5 (G>A) + Corfu deletion (7.2 kb Corfu δβ thalassaemia, Corfu (δβ)0)	N/A	NG_000007.3:g.57237_64443del7207; HBB:c.92+5G>A	δ, β	Causative	δβ-thalassaemia	NG_000007.3	57237, 70691
3971	Tunisian (δβ)0	N/A	NG_000007.3:g.58253_72837del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	58253
1499	Black (HPFH-1)	N/A	NC_000011.10:g.5153222_5238138delinsAAATA	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	59478
1509	Spanish (δβ)0	N/A	NG_000011.10:g.5144331_5237241del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	60375
1510	Black (δβ)0	N/A	NG_000007.3:g.(60530_60730)_(72351_72551)del11822	δ, β	Causative	δβ-thalassaemia	NG_000007.3	60530
2154	French deletion/insertion (French HPFH deletion)	N/A	NG_000007.3:g.[61399_61400insC; 61402_81144del]	δ, β	Causative	HPFH, Hb F levels	NG_000007.3	61402
4096	Hb Anti-Lepore Laibin	Hb Anti-Lepore Laibin	NG_000007.3:g.63100_70511dup	δ, β	Causative	δ-chain variant	NG_000007.3	63100
3792	N/A	Hb Lepore-Hong Kong	NG_000007.3:g.63154_70565del	δ, β	Causative	δβ-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	63154
3964	Hb Anti-Lepore Liuzhou	N/A	NG_000007.3:g.63154_70565dup	δ, β	Causative	δ-chain variant	NG_000007.3	63154
3307	N/A	Hb Lepore Rochester-MN	NG_000007.3:g.[63191_70603dup;63291_70703del]	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63191
1396	(δβδ hybrid)	Hb Parchman	NG_000007.3:g.[63249_70661del;63571_70985dup]	δ, β	Causative	δ-chain variant	NG_000007.3	63249
1401	(Hb Anti-Lepore Miyada)	Hb Miyada	NG_000007.3:g.63249_70661dup	δ, β	Causative	N/A	NG_000007.3	63249
1397		Hb Lepore-Hollandia	NG_000007.3:g.63290_70702del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63290
4109	N/A	Hb Lepore-Quanzhou	NG_000007.3:g.63511_70924del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63511
1398		Hb Lepore-Baltimore	NG_000007.3:g.63564_70978del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63564
1399		Hb Lepore-Boston-Washington	NG_000007.3:g.63632_71046del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	63632
1403	(Hb Anti-Lepore P-India)	Hb P-India	NG_000007.3:g.63632_71046dup	δ, β	Causative	δ-chain variant	NG_000007.3	63632
1507	Sicilian (δβ)0	N/A	NG_000007.3:g.64336_77738del	δ, β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	64336
1512	Laotian (δβ)0 (Thai (δβ)0-thal)	N/A	NG_000007.3:g.(64336_64524)_76866del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	64336
1513	Thai/Vietnamese (δβ)0 (Thai (δβ)0 , Vietnamese (δβ)0 )	N/A	NG_000007.3:g.64384_76993del	δ, β	Causative	δβ-thalassaemia, Haemolytic anaemia	NG_000007.3	64384
1402	(Hb Anti-Lepore P-Congo)	Hb P-Congo	NG_000007.3:g.64557_71923dup	δ, β	Causative	δ-chain variant	NG_000007.3	64557
3867	>6.5 Kb deletion	N/A	NG_000007.3:g.(63032_64585)_(71150_72080)del	δ, β	Causative	δβ-thalassaemia	NG_000007.3	64585
3394	223 kb deletion	N/A	NC_000011.10:g.5010012_5232933del	δ, β	Causative	β-thalassaemia	NG_000007.3	64683
3958	8.2 kb deletion	N/A	NG_000007.3:g.65147_73407del	β	Causative	β-thalassaemia	NG_000007.3	65147
298	Filipino (~45 kb deletion)	N/A	NC_000011.10:g.5112882 _5231358del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	66258
292	Turk (~7.6 kb deletion)	N/A	NG_000007.3:g.[52524_60162del;66278_73952del]	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	66278
2283	South-Italy	N/A	NC_000011.10:g.5164564_5230714del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	66902
2157	Indian (4056 bp deletion)	N/A	NG_000007.3:g.67357_71413del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	67357
3997	7.2 kb deletion	N/A	NC_000011.10:g.5222800_5230034del	β	Causative	β-thalassaemia	NG_000007.3	67582
296	Dutch (12620 bp deletion)	N/A	NG_000007.3:g.68071_80682del12612	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	68071
2124	Caucasian HPFH (27825 bp deletion)	N/A	NC_000011.10:g.5201455_5229279delins5223936_5223960	β	Causative	β-thalassaemia, Hb F levels	NG_000007.3	68337
1505	South East Asian (SEA) deletion (Vietnamese, SE Asian, HPFH-7, SEA-HPFH, 27 kb deletion)	N/A	NC_000011.10:g.5201647_5229059del	β	Causative	β-thalassaemia, Hb F levels	NG_000007.3	68557
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
3823	60 kb deletion (Prachinburi β0-thalassemia deletion)	N/A	NC_000011.10:g.5167971_5228123delinsA	β	Causative	β-thalassaemia	NG_000007.3	69493
289	Croatian (1605 bp deletion)	N/A	NG_000007.3:g.69561_71164del1604	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	69561
290	Thai (3485 bp deletion, Chongqing deletion, NC_000011.10: g.5224303-5227790del, NC_000011.9: g.5245533_5249020del)	N/A	NG_000007.3:g.69826_73313del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	69826
2150	1357 bp deletion (Taiwanese deletion)	N/A	NG_000007.3:g.69997_71353del1357	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	69997
288	Black, British (1393 bp deletion)	N/A	NG_000007.3:g.70060_71452del1393	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70060
2125	Afghan (909 bp deletion)	N/A	NG_000007:g.70067_70976del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70067
284	468 bp deletion	N/A	NG_000007.3:g.70070_70537del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70070
2036	-487 T>C	N/A	NG_000007.3:g.70076C>T	β	Neutral	N/A	NG_000007.3	70076
285	Black (532 bp deletion)	N/A	HBB:c.-504_28del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70091
3277	538 bp deletion	N/A	HBB:c.-464_74del \| NG_000007.3:g.70131_70668del	β	Causative	β-thalassaemia	NG_000007.3	70131
3278	1517 bp deletion	N/A	HBB:c.-390_316-169delinsA	β	Causative	β-thalassaemia	NG_000007.3	70205
2037	-300 C>T	N/A	NG_000007.3:g.70205C>T	β	Neutral	N/A	NG_000007.3	70205
4066	10.8 kb deletion	N/A	NC_000011.10:g.5216601_5227407del	β	Causative	β-thalassaemia	NG_000007.3	70209
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
2122	125 bp deletion	N/A	NG_000007.3:g.70360_70485del125	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70360
2153	Kabylia deletion/insertion	N/A	NG_000007.3:g.70417_72458delinsATAAG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70417
283	290 bp deletion	N/A	HBB:c.-176_92+25del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70419
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
3752	-99 to -85 (-15bp)	N/A	HBB:c.-149_-135delGTGGAGCCACACCCT	β	Causative	β-thalassaemia	NG_000007.3	70446
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
3990	-89 to -88 (-AC)	N/A	HBB:c.-139_-138delAC	β	Causative	β-thalassaemia	NG_000007.3	70456
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
2178	-88 C>G	N/A	HBB:c.-138C>G	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
3925	-42 (-C)	N/A	HBB:c.-92delC	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
3062	-30 (-T)	N/A	HBB:c.-80delT	β	Causative	β-thalassaemia	NG_000007.3	70515
24	-29 to -26 (-AA)	N/A	HBB:c.-79_78delAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70516
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
31	-27 (-AA)	N/A	HBB:c.-77_-76delAA	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
32	-25 (G>C)	N/A	HBB:c.-75G>C	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70520
2565	-25 G>T	N/A	HBB:c.-75G>T	β	Causative	β-thalassaemia	NG_000007.3	70520
282	105 bp deletion	N/A	HBB:c.-74_31del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70521
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
36	CAP +10 (-T) (5'UTR +10 (-T))	N/A	HBB:c.-41delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70554
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
3627	CAP +20 (-C)	N/A	HBB:c.-31delC	β	Causative	β-thalassaemia	NG_000007.3	70564
3345	CAP +22 (G>T)	N/A	HBB:c.-29G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70566
38	CAP +22 (G>A)	N/A	HBB:c.-29G>A	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
33	-22 to +23 (+45 bp duplication)	N/A	NG_000007.3:g.70573_70617dup	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70573
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
40	CAP +41 to +44 (-AACA) (CAP +40 to +43 (-AAAC))	N/A	HBB:c.-10_-7delAACA	β	Causative	β-thalassaemia	NG_000007.3	70585
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
50	CD 1 (-G)	N/A	HBB:c.4delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70598
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
51	CD 2-4 (-9 bp, +31 bp)	N/A	HBB:c.7_15delinsCCTGAGGTGAAGTCTGCCTGAGGAGAAGTCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70601
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
3437	CD 2 CAT>-AT	Hb Bundelkhand	HBB:c.7delC	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70601
3014	CD 2 CAT>C-T	N/A	HBB:c.8delA	β	Causative	β-thalassaemia	NG_000007.3	70602
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
53	CD 2/3 (+T); CD 5 (-C)	Hb Antalya	HBB:c.[9dupT; 17delC]	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70603, 70611
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
3561	CD 2 CAT/CA-	N/A	HBB:c.9delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70603
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
2327	CD 3 CTG>ATG [Leu>Met]	Hb Niguarda	HBB:c.10C>A	β	Causative	β-chain variant	NG_000007.3	70604
52	CD 3 (+T)	N/A	HBB:c.11dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70605
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
804	CD 4 ACT>AAT	Hb Wurzburg	HBB:c.14C>A	β	Causative	β-chain variant	NG_000007.3	70608
3817	CD 4 (-T)	N/A	HBB:c.14delC	β	Causative	β-thalassaemia	NG_000007.3	70608
3949	CD 4 ACT>ATT [Thr>Ile]	Hb Fox Point	HBB:c.14C>T	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
54	CD 5 -CT	N/A	HBB:c.17_18delCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70611
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
2180	CD 5/6 -TG	N/A	HBB:c.18_19delTG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70612
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
2184	CD 6-14 (-26 bp) (26 bp deletion)	N/A	HBB:c.20_45del26bp	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70613
57	CD 6 -A	N/A	HBB:c.20delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70614
58	CD 6 (-G)	N/A	HBB:c.20delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70614
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
59	CD 6-10 (-13 bp)	N/A	HBB:c.21_33delGGAGAAGTCTGCC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70615
60	CD 7 GAG>TAG	N/A	HBB:c.22G>T	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70616
828	CD 7 (-GAG) [-Glu] (Hb Xinyi)	Hb Leiden	HBB:c.22_24delGAG	β	Causative	β-chain variant	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
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
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
3288	CD7 GAG>G-G	N/A	HBB:c.23delA	β	Causative	β-thalassaemia	NG_000007.3	70617
2958	CD 7/8 (+G)	N/A	HBB:c.24dupG	β	Causative	β-thalassaemia	NG_000007.3	70618
2382	CD 7 GAG>GAT [Glu>Asp]	Hb Stockholm	HBB:c.24G>T	β	Causative	β-chain variant	NG_000007.3	70618
61	CD 8 (-AA)	N/A	HBB:c.25_26delAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70619
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
2185	CD 8/9 +AGAA	N/A	HBB:c.27_28insAGAA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70620
62	CD 8/9 (+G)	N/A	HBB:c.27dupG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70621
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
63	CD 9 (+TA)	N/A	HBB:c.28_29insTA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70622
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
3401	CD 9 TCT>TTT [Ser>Phe]	Hb Hengyang	HBB:c.29C>T	β	Causative	β-chain variant	NG_000007.3	70623
3399	CD 9 TCT>TC-	Hb Antep	HBB:c.30delT	β	Causative	β-chain variant	NG_000007.3	70624
64	CD 9/10 (+T)	Hb Gaziantep	HBB:c.30dupT	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70624
840	CD 10 GCC>ACC [Ala>Thr]	Hb Belleville	HBB:c.31G>A	β	Causative	β-chain variant	NG_000007.3	70625
4108	CD 10 GCC>GTC [Ala>Val]	N/A	HBB:c.31_32insT	β	Causative	β-thalassaemia	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
66	CD 10 (-C)	N/A	HBB:c.33delC	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
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
67	CD 11 (-T)	N/A	HBB:c.36delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70630
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
3721	CD 14 CTG>-TG	N/A	HBB:c.43delC	β	Causative	β-thalassaemia	NG_000007.3	70637
2553	CD 14 CTG>C-G	N/A	HBB:c.44delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70638
68	CD 14 (+T)	N/A	HBB:c.44dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70638
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
69	CD 14/15 (+G)	N/A	HBB:c.45dupG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70639
70	CD 15 (-T)	N/A	HBB:c.46delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70640
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
853	CD 16 GGC>CGC	Hb D-Bushman	HBB:c.49G>C	β	Causative	β-chain variant	NG_000007.3	70643
2374	CD 16 GGC>TGC [Gly>Cys]	Hb Whitmire	HBB:c.49G>T	β	Causative	β-chain variant	NG_000007.3	70643
71	CD 15/16 (+G)	N/A	HBB:c.50dupG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70644
74	CD 15/16 (-G)	N/A	HBB:c.50delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70644
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
75	CD 16 GGC>GG-	N/A	HBB:c.51delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70645
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
78	CD 17 (+A)	N/A	HBB:c.53dup	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70647
2298	CD 17 AAG>ATG (Lys>Met)	Hb Ede	HBB:c.53A>T	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70647
855	CD 17-19 (-GGTGAA)	Hb Lyon	HBB:c.54_59del	β	Causative	β-chain variant	NG_000007.3	70648
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
3609	CD 20/21 (-TGGA)	N/A	HBB:c.62_65delTGGA	β	Causative	β-thalassaemia	NG_000007.3	70656
80	CD 20-22 (GTGGATGAA>GTGAA)	N/A	HBB:c.64_67del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70658
81	CD 20/21 (+G)	N/A	HBB:c.64dupG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70658
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
84	CD 22-24 ( -7 bp): (-AAGTTGG)	N/A	HBB:c.68_74delAAGTTGG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70662
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
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
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
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
85	CD 24 (-G, +CAC)	N/A	HBB:c.74delinsCAC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70668
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
281	IVS I [3 end] -44 bp (44 bp deletion)	N/A	HBB:c.76_92+27del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70670
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
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
87	CD 25/26 (+T)	N/A	HBB:c.78dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70672
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
90	CD 26 (+T)	N/A	HBB:c.79_80insT	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
92	CD 27/28 (+C)	N/A	HBB:c.85dupC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70679
93	CD 28 (-C)	N/A	HBB:c.85delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70679
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
95	CD 28/29 (-G)	N/A	HBB:c.89delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70683
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
3484	CD 30 (-A) or IVS I (-2) AGG>-GG	N/A	HBB:c.91delA	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
280	IVS I [3' end] (-25 bp) (25 bp deletion)	N/A	NC_000011.10(NM_000518.4):c.93-22_95del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70795
2173	IVS I-109 (-T)	N/A	HBB:c.93-22delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70795
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
121	IVS I [3' end] (-17 bp) (17 bp deletion)	N/A	HBB:c.93-17_93-1delTATTTTCCCACCCTTAG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70800
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
124	IVS I [3' end] (+22bp)	N/A	NG_000007.3:g.70807_70828dup	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70807
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
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
126	CD 31 (-C)	N/A	HBB:c.94delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70818
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
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
130	CD 33-34 (-G)	N/A	HBB:c.102_103delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70826
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
3795	CD 35 TAC>GAC [Tyr>Asp]	Hb Oristano	HBB:c.106T>G	β	Causative	β-chain variant	NG_000007.3	70830
2331	CD 35 TAC>CAC [Tyr>His]	Hb Fulwood	HBB:c.106T>C	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
3692	CD 35 (TAC>TA-)	N/A	HBB:c.108delC	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
128	CD 36 CCT>C-T (CD 36 (-C))	N/A	HBB:c.110del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70834
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
135	CD 36-39 (-8 bp)	N/A	HBB:c.111_118delTTGGACCC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70835
134	CD 36/37 (-T)	N/A	HBB:c.112delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70836
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
136	CD 37 (-G)	N/A	HBB:c.114delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	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
139	CD 37-39 (-7 bp): (-GACCCAG)	N/A	HBB:c.114_120del	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
141	CD 38/39 (-CC)	N/A	HBB:c.117_118delCC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70841
140	CD 38/39 (-C)	N/A	HBB:c.118delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70842
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
2393	CD 39 -A	N/A	HBB:c.119delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	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
143	CD 40 (-G)	N/A	HBB:c.123delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70847
144	CD 40 (+86 bp) (HGSA)	N/A	HBB:c.123_208dup	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70847
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
145	CD 40/41 (+T)	N/A	HBB:c.125dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70849
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
146	CD 41 (-C)	N/A	HBB:c.126delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70850
147	CD 41/42 (-CTTT) (CD 41/42 (-TTCT), CD 41/42 (-TCTT))	N/A	HBB:c.126_129delCTTT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70850
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
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
2461	CD 42 TTT>ATT [Phe>Ile]	Hb Oslo	HBB:c.127T>A	β	Causative	β-chain variant, Haemolytic anaemia	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
148	CD 42/43 (+T)	N/A	HBB:c.129dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70853
2954	CD 42 TTT>TT-	Hb Yala	HBB:c.129delT	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70853
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
149	CD 42/43 (+G)	N/A	HBB:c.130dupG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70854
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
946	CD 43-46 (-9bp)	Hb Niteroi	HBB:c.131_139del	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70855
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
151	CD 44 -C	N/A	HBB:c.135delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70859
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
152	CD 45 (-T)	N/A	HBB:c.138delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70862
153	CD 45 (+T)	N/A	HBB:c.138dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70862
154	CD 45/46 (+A)	N/A	HBB:c.138_139insA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70862
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
2960	CD 46/47 (+G)	N/A	HBB:c.142_142dupG	β	Causative	β-thalassaemia	NG_000007.3	70866
155	CD 47 (+A)	N/A	HBB:c.143dup	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70867
156	CD 47/48 (+ATCT)	N/A	HBB:c.143_146dupATCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70867
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
2187	CD 48 -T	N/A	HBB:c.146delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	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
2407	CD 49-55 (-19 bp +4 bp)	Hb Martinez	HBB:c.149_167delinsAGCT	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70873
157	CD 49 (-C)	N/A	HBB:c.150delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70874
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
158	CD 50 (-T)	N/A	HBB:c.153delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70877
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
159	CD 51 (-C)	N/A	HBB:c.155delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70879
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
2959	CD 52 GAT>G-T	N/A	HBB:c.158delA	β	Causative	β-thalassaemia	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
160	CD 53 (-T)	N/A	HBB:c.162delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70886
161	CD 53/54 (+G)	N/A	HBB:c.163dupG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70887
3368	CD 54 GTT>CTT [Val>Leu]	Hb Askew	HBB:c.163G>C	β	Causative	β-chain variant	NG_000007.3	70887
4094	CD 54 GTT>-TT	N/A	HBB:c.163del	β	Causative	β-thalassaemia	NG_000007.3	70887
983	CD 54 GTT>GAT	Hb Jacksonville	HBB:c.164T>A	β	Causative	β-chain variant	NG_000007.3	70888
162	CD 54 -T	N/A	HBB:c.165delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70889
164	CD 54-58 (-13bp)	N/A	HBB:c.165_177delTATGGGCAACCCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70889
163	CD 54/55 (+A)	N/A	HBB:c.166dupA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70890
165	CD 55 (-A)	N/A	HBB:c.166delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70890
984	CD 55 ATG>AAG	Hb Matera	HBB:c.167T>A	β	Causative	β-chain variant	NG_000007.3	70891
2990	CD 55-59 (-13 bp)	N/A	HBB:c.167_179del	β	Causative	β-thalassaemia	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
166	CD 56-60 (+14 bp)	N/A	HBB:c.170_183dup	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70894
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
989	CD 56-60 (-12bp)	Hb Tochigi	HBB:c.170_181del	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
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
3779	CD 57 AAC>AAT [Asn>Asn]	N/A	HBB:c.174C>T	β	Neutral	N/A	NG_000007.3	70898
3311	CD 58 CCT>C-T	N/A	HBB:c.176delC	β	Causative	β-thalassaemia	NG_000007.3	70900
167	CD 58 (+C)	N/A	HBB:c.176dupC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70900
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
168	CD 59 -A	N/A	HBB:c.179delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	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
4086	CD 59 AAG>AA-, CD 59 (-G)	N/A	HBB:c.180del	β	Causative	β-thalassaemia	NG_000007.3	70904
3855	CD 60 GTG>-TG [Val>STOP]	N/A	HBB:c.181delG	β	Causative	β-thalassaemia	NG_000007.3	70905
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
3298	CD 60-61 (-6bp): (-TGAAGG)	Hb Tavapy	HBB:c.182_187delTGAAGG	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
2190	CD 62-83 (+65 bp)	N/A	HBB:c.187_251dup	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70911
3589	CD 62-65 (-12bp)	N/A	HBB:c.187_198delGCTCATGGCAAG	β	Causative	β-thalassaemia, Haemolytic anaemia	NG_000007.3	70911
3342	CD 62 GCT>GTT [Ala>Val]	Hb Hachioji	HBB:c.188C>T	β	Causative	β-chain variant	NG_000007.3	70912
1007	CD 62 GCT>GAT	Hb J-Europa	HBB:c.188C>A	β	Causative	β-chain variant	NG_000007.3	70912
171	CD 62-64 (-7bp)	N/A	HBB:c.189_195delTCATGGC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70913
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
3944	CD 64 (+G)	N/A	HBB:c.194dup	β	Causative	β-thalassaemia	NG_000007.3	70918
173	CD 64 (-G)	N/A	HBB:c.194delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	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
2525	CD 68/69 (+AAAGTGCTC)	Hb Bronx	HBB:c.199_207dupAAAGTGCTC	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70923
3854	CD 66/67 (-AAAG)	N/A	HBB:c.199_202delAAAG	β	Causative	β-thalassaemia	NG_000007.3	70923
3367	CD 66 AAA>ATA [Lys>Ile]	Hb Vigo	HBB:c.200A>T	β	Causative	β-chain variant	NG_000007.3	70924
1019	CD 66 AAA>ACA	Hb Chico	HBB:c.200A>C	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
2188	CD 66 -A	N/A	HBB:c.201delA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	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
175	CD 67 (-TG)	N/A	HBB:c.203_204delGT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70927
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
1029	CD 69 (+GCTCGG)	Hb Nishinomiya	HBB:c.204_209dupGCTCGG	β	Causative	β-chain variant	NG_000007.3	70928
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
3019	CD 68-70 (-7bp): (-TCGGTGC)	N/A	HBB:c.206_212delTCGGTGC	β	Causative	β-thalassaemia	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
2522	CD 69 GGT>G-T	N/A	HBB:c.209delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70933
2189	CD 69 -T	N/A	HBB:c.210delT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70934
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
176	CD 71 (+T)	N/A	HBB:c.216dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70940
2462	CD 71 -T	N/A	HBB:c.216delT	β	Causative	β-thalassaemia	NG_000007.3	70940
177	CD 71/72 (+A)	N/A	HBB:c.217dupA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70941
178	CD 72-73 (-AGTGA, +T)	N/A	HBB: c.217_221delAGTGAinsT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70941
2401	CD 72 AGT>ACT [Ser>Thr]	Hb Phimai	HBB:c.218G>C	β	Causative	β-chain variant	NG_000007.3	70942
1038	CD 72 AGT>AGA	Hb Headington	HBB:c.219T>A	β	Causative	β-chain variant	NG_000007.3	70943
2181	CD 72/73 (+T)	N/A	HBB:c.219dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70943
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
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
1043	CD 73-75 (-GATGGCCTG; + Ala-Arg-Cys-Gln)	Hb Montreal	HBB:c.220_228delinsGCTCGGTGCCAG	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
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
179	CD 75 (-C)	N/A	HBB:c.226delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70950
1049	CD 75 (-CTG)	Hb Vicksburg	HBB:c.226_228delCTG	β	Causative	β-chain variant	NG_000007.3	70950
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
4080	CD 75 CTG>CAG [Leu>Gln]	Hb Raklev	HBB:c.227T>A	β	Causative	β-chain variant	NG_000007.3	70951
180	CD 76 GCT>--T (-GC)	N/A	HBB:c.229_230delGC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70953
1053	CD 76 GCT>CCT	Hb Calais	HBB:c.229G>C	β	Causative	β-chain variant	NG_000007.3	70953
181	CD 76 (-C)	N/A	HBB:c.230delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70954
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
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
2533	CD 77 CAC>CCC [His>Pro]	Hb Brooklyn	HBB:c.233A>C	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
182	CD 78 CTG>-TG	N/A	HBB:c.235delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70959
2422	CD 78 CTG>GTG [Leu>Val]	Hb Ullevaal	HBB:c.235C>G	β	Causative	β-chain variant	NG_000007.3	70959
3299	CD 77/78 (+C)	N/A	HBB:c.235dupC	β	Causative	β-thalassaemia	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
3225	CD 78/85 (-20bp)	N/A	HBB:c.237_256delGGACAACCTCAAGGGCACCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70961
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
1067	CD 80 AAC>TAC [Asn>Tyr]	Hb Hounslow	HBB:c.241A>T	β	Causative	β-chain variant	NG_000007.3	70965
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
2445	CD 80 -AAC [-Asn]	Hb Saint-Chamond	HBB:c.241_243delAAC	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
183	CD 80/81 (-C)	N/A	HBB:c.244delC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70968
184	CD 81-87 (-22 bp)	N/A	HBB:c.244_265del22	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70968
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
185	CD 82/83 (-G)	N/A	HBB:c.251delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70975
1079	CD 83 GGC>GAC	Hb Pyrgos	HBB:c.251G>A	β	Causative	β-chain variant	NG_000007.3	70975
186	CD 84-86 (-8 bp): (-CACCTTTG)	N/A	HBB:c.253_260del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70977
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
187	CD 84/85 (+C)	N/A	HBB:c.255dupC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70979
3965	CD 84-87 (-CTTTGCCACA) (+TTTTTCTCAG) (Hb Donguan-Dongcheng)	Hb Wanjiang	HBB:c.255_264delinsTTTTTCTCAG	β	Causative	β-chain variant	NG_000007.3	70979
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
188	CD 84-86 (+T)	N/A	HBB:c.258dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70982
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
3722	CD 86 GCC>GC-	N/A	HBB:c.261delC	β	Causative	β-thalassaemia	NG_000007.3	70985
1087	CD 87 (-ACA)	Hb Tours	HBB:c.262_264delACA	β	Causative	β-chain variant	NG_000007.3	70986
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
4044	CD 87-91 (-14 bp)	N/A	HBB:c.263_276del	β	Causative	β-thalassaemia	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
3253	CD 88 CTG>--G (HBB:c.265_266delCT)	N/A	HBB:c.265_266del	β	Causative	β-thalassaemia	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
189	CD 88 (+T)	N/A	HBB:c.266dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70990
190	CD 88 (-TG)	N/A	HBB:c.266_267del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70990
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
3287	CD 89-93 (-14bp): (-AGTGAGCTGCACTG)	N/A	HBB:c.268_281delAGTGAGCTGCACTG	β	Causative	β-thalassaemia	NG_000007.3	70992
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
191	CD 89/90 (AGTGAG>AGAG)	N/A	HBB:c.270_271del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70994
1094	CD 89 AGT>AGR [Ser>Arg]	Hb Vanderbilt	HBB:c.270T>R	β	Causative	β-chain variant	NG_000007.3	70994
2965	CD 89-90 (-TGAG)	Hb Wilde	HBB:c.270_273delTGAG	β	Causative	β-chain variant	NG_000007.3	70994
3044	CD 90 GAG>-AG	N/A	HBB:c.271delG	β	Causative	β-thalassaemia	NG_000007.3	70995
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
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
2491	CD 90 GAG>CAG [Glu>Gln]	Hb Henan	HBB:c.271G>C	β	Causative	β-chain variant	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
3057	CD 90 (+24 bp) (+AGCTGCACTGTGACAAGCTGCACG)	N/A	HBB:c.272_295dup	β	Causative	β-thalassaemia	NG_000007.3	70996
3593	CD 90 GAG>GCG [Glu>Ala]	Hb Shenzhen	HBB:c.272A>C	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
1124	CD 95/96 (+15 bp)	Hb Koriyama	HBB:c.274_288dup	β	Causative	β-chain variant	NG_000007.3	70998
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
193	CD 91 CTG>C-G	Hb Morgantown	HBB:c.275del	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70999
194	CD 91 (+T)	N/A	HBB:c.275dupT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70999
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
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
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
195	CD 93/94 (+TG)	Hb Agnana	HBB:c.282_283dupTG	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71006
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
196	CD 95 (+A)	N/A	HBB:c.287dupA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71011
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
3888	CD 97/98 (+GCAC)	N/A	HBB:c.291_294dup	β	Causative	β-thalassaemia	NG_000007.3	71015
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
1125	CD 97/98 (-ACG)	Hb Galicia	HBB:c.293_295delACG	β	Causative	β-chain variant	NG_000007.3	71017
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
2966	CD 98/99 (+TG)	Hb Patagonia	HBB:c.296_297dup	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
198	CD 100 (-CC,+TCTGAGAACTT) >158aa	N/A	HBB:c.301_302delCCinsTCTGAGAACTT	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71025
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
2279	CD 102 AAC>ATCAC	N/A	HBB:c.308insTC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	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
3385	CD 103 TTC>TAC [Phe>Tyr]	Hb Gavle	HBB:c.311T>A	β	Causative	β-chain variant	NG_000007.3	71035
4114	CD 103 TTC>TCC [Phe>Ser]	Hb Koskullskulle	HBB:c.311T>C	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
3636	CD 104 (-A)	N/A	HBB:c.313delA	β	Causative	β-thalassaemia	NG_000007.3	71037
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
2411	CD 104 AGG>ATG [Arg>Met]	Hb Bad Salzuflen	HBB:c.314G>T	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
199	IVS II-1 (-G)	N/A	HBB:c.315+1delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71040
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
205	IVS II-2 (-T)	N/A	HBB:c.315+2del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71041
206	IVS II-2/3 (-2 bp, +11 bp) (IVS II-2,3 (+11/-2))	N/A	HBB:c.315+2_315+3delinsACGTTCTCTGA	β	Causative	β-thalassaemia	NG_000007.3	71041
2182	IVS II-2 -TGAGTCTATGGG	N/A	HBB:c.315+2_315+13delTGAGTCTATGGG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71041
207	IVS II 4/5 -AG	N/A	NG_000007.3:g.71043_71044delAG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71043
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
3247	IVS II-209 (-TTTT)	N/A	HBB:c.315+209_315+212delTTTT	β	Neutral	N/A	NG_000007.3	71248
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
3683	IVS II-308 (-A)	N/A	HBB:c.315+308delA	β	Causative	β-thalassaemia	NG_000007.3	71347
4046	IVS II-337 A>G	N/A	HBB:c.315+337A>G	β	Causative	β-thalassaemia	NG_000007.3	71376
3996	4.9 Kb deletion (NG_000007.3:g.71429_76331del)	N/A	NC_000011.10:g.5226187_5231089del	β	Causative	β-thalassaemia, Ineffective erythropoiesis	NG_000007.3	71429
2495	IVS II-478 C>A	N/A	HBB:c.316-373C>A	β	Neutral	N/A	NG_000007.3	71517
3797	IVS II-509 (-A)	N/A	HBB:c.316-342delA	β	Causative	β-thalassaemia	NG_000007.3	71548
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
286	619 bp deletion (Asian Indian)	N/A	NG_000007.3:g.71609_72227del619	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71609
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
3391	IVS II-648/649 (-T)	N/A	HBB:c.316-202del	β	Causative	β-thalassaemia	NG_000007.3	71688
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
3866	IVS II-659_664 (-GCAATA)	N/A	HBB:c.316-192_187del	β	Causative	β-thalassaemia	NG_000007.3	71698
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
3796	IVS II-716 (+T)	N/A	HBB:c.316-135dupT	β	Causative	β-thalassaemia	NG_000007.3	71755
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
2200	IVS II-765 L1 insertion (+CTGCTTTTATTTT)	N/A	HBB:c.316-98_316-86dup	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71792
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
3616	IVS II-809 (-G)	N/A	HBB:c.316-42delG	β	Causative	β-thalassaemia	NG_000007.3	71848
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
3045	IVS II-848 C>T	N/A	HBB: c.316-3C>T	β	Causative	β-thalassaemia	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
228	IVS II-850 (-G)	N/A	HBB:c.316-1delG	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
231	CD 107 (+G)	N/A	HBB:c.323dupG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71897
1169	CD 107 GGC>GAC	Hb Lulu Island	HBB:c.323G>A	β	Causative	β-chain variant	NG_000007.3	71897
2191	CD 107-111 (-12 bp): (-GCAACGTGCTGG)	N/A	HBB:c.323_334del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	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
232	CD 108-112 (-12 bp) Asn-Val-Leu-Val-Cys to Ser	N/A	HBB:c.326_337delACGTGCTGGTCT	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71900
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
233	CD 109 (-G) >156aa	Hb Manhattan	HBB:c.328delG	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71902
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
4064	CD109/110 (-GCT +CAGCACGATG)	N/A	HBB:c.330_332delinsCAGCACGATG	β	Causative	β-thalassaemia	NG_000007.3	71904
3384	CD 110 CTG>CGG [Leu>Arg]	Hb London-Ontario	HBB:c.332T>G	β	Causative	β-chain variant	NG_000007.3	71906
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
3024	CD 111-115 (-12bp): (-TCTGTGTGCTGG)	N/A	HBB:c.335_346del	β	Causative	β-thalassaemia	NG_000007.3	71909
4075	CD 111/112 (+C)	N/A	HBB:c.336dup	β	Causative	β-thalassaemia	NG_000007.3	71910
1182	CD 112 TGT>CGT [Cys>Arg]	Hb Indianapolis	HBB:c.337T>C	β	Causative	β-chain variant	NG_000007.3	71911
2434	CD 112 TGT>GGT [Cys>Gly]	Hb Saint-Marcellin	HBB:c.337T>G	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
1195	CD 112-116 (+GTGTGCTGGCCC)	Hb Antibes-Juan-Les-Pins	HBB:c.338_349dupGTGTGCTGGCCC	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
2192	CD 114/115 (+TGTGCTG)	N/A	HBB:c.339_345dupTGTGCTG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71913
236	CD 113 (-G) >156aa	N/A	HBB:c.340delG	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71914
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
238	CD 114 (-CT, +G) >156aa	Hb Geneva	HBB:c.343_344delinsG	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71917
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
3308	CD 115-116 (-CC, +G) >156aa	Hb Grand Junction	HBB:c.348_349delinsG	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	71922
3228	CD 116 CAT>-AT	N/A	HBB:c.349del	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71923
1196	CD 116 CAT>TAT	Hb Rhode Island	HBB:c.349C>T	β	Causative	β-chain variant	NG_000007.3	71923
240	CD 116 (+TGAT)	N/A	HBB:c.349_350insTGAT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71924
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
2193	CD 117 -C	N/A	HBB:c.354delC	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71928
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
3846	CD 118 (-TT)	N/A	HBB:c.356_357delTT	β	Causative	β-thalassaemia	NG_000007.3	71930
241	CD 118 (-T) > 156aa	Hb Sainte Seve	HBB:c.357delT	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71931
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
4113	CD 119-121 (+8 bp)	Hb Nanjing	HBB:c.358_365dup	β	Causative	β-thalassaemia	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
242	CD 120 -A [156 aa] (CD 120 AAA>AA-)	Hb Filottrano	HBB:c.363delA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71937
243	CD 120/121 (+A)	N/A	HBB:c.363dupA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71937
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
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
246	CD 123-125 (-ACCCCACC) >135aa	Hb Khon Kaen	HBB:c.370_378delACCCCACCA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71944
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
3555	CD 124 (+C)	N/A	HBB:c.374dup	β	Causative	β-thalassaemia, Haemolytic anaemia	NG_000007.3	71948
4065	CD 124 (-C)	N/A	HBB:c.374delC	β	Causative	α-thalassaemia	NG_000007.3	71948
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
247	CD 124 (-A) >156aa	N/A	HBB:c.375delA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71949
2194	CD 124/125 (+A)	N/A	HBB:c.375dupA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71949
248	CD 125 (+CCA)	N/A	HBB:c.376_378dupCCA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71950
3227	CD 125-126 (+CCAGT)	N/A	HBB:c.376_380dupCCAGT	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71950
3313	CD 125 CCA>ACA [Pro>Thr]	Hb Novara	HBB:c.376C>A	β	Causative	β-chain variant	NG_000007.3	71950
2195	CD 125-127 (-CAGTGC)	N/A	HBB:c.377_382delCAGTGC	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71951
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
1231	CD 126 GTG>CTG	Hb Molfetta	HBB:c.379G>C	β	Causative	β-chain variant	NG_000007.3	71953
3563	CD 126 GTG>-TG	N/A	HBB:c.379delG	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71953
250	CD 126 (-T) >156aa	Hb Vercelli	HBB:c.380delT	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71954
252	CD 126-131 (-17 bp)	Hb Westdale	HBB:c.380_396delTGCAGGCTGCCTATCAG	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	71954
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
4087	CD 128-134 (-21bp): (-CAGGCTGCCTATCAGAAAGTG)	N/A	HBB:c.382_402del	β	Causative	β-thalassaemia	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
3927	CD 128 GCT>-CT	N/A	HBB:c.385delG	β	Causative	β-thalassaemia	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
3951	CD 129-133 (-CCTATCAGAAAGT)	Hb Phoenix	HBB:c.389_401del	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
2197	CD 131 (+A)	N/A	HBB:c.395dupA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71969
259	CD 131/132 (+GCCT)	N/A	HBB:c.396_397insGCCT	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71970
260	CD 131-132 (-GA) >138aa	N/A	HBB:c.396_397delGA	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71970
261	CD 131-134 (-11bp) >134aa	N/A	HBB:c.396_406del	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71970
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
3896	CD 132 (AAA>AA-)	N/A	HBB:c.399del	β	Causative	β-thalassaemia	NG_000007.3	71973
3375	CD 133 GTG>TTG [Val>Leu]	Hb Miringa	HBB:c.400G>T	β	Causative	β-chain variant	NG_000007.3	71974
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
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
263	CD 134-137 (-12, +6 bp) Val-Ala-Gly-Val to Gly-Arg	N/A	HBB:c.404_413delinsGCAG	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	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
2389	CD 134 GTG>GGG [Val>Gly]	Hb Olupona	HBB:c.404T>G	β	Causative	β-chain variant	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
3249	CD 135 GCT>GC-	Hb Urumqi	HBB:c.408delT	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71982
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
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
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
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
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
265	CD 141 (-C) >156aa	Hb Florida	HBB:c.424delC	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71998
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
1287	CD 141 (-CTG)	Hb Coventry	HBB:c.424_426delCTG	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
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
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
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
1290	CD 142 (-CC)	Hb Uzes	HBB:c.429_430delCC	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72003
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
2024	CD 143 (-C)	Hb Montreal II	HBB:c.430delC	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72004
1294	CD 143 (-A)	Hb Saverne	HBB:c.431delA	β	Causative	β-chain variant	NG_000007.3	72005
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
1303	CD 144 AAG>GAG	Hb Mito	HBB:c.433A>G	β	Causative	β-chain variant	NG_000007.3	72007
2364	CD 144 AAG>TAG	Hb Cambridge-MA	HBB:c.433A>T	β	Causative	β-chain variant	NG_000007.3	72007
1302	CD 144 (-A)	Hb Trento	HBB:c.434delA	β	Causative	β-chain variant	NG_000007.3	72008
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
1306	CD 145 (+CT)	Hb Cranston	HBB:c.436_437insCT	β	Causative	β-chain variant	NG_000007.3	72010
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
1319	CD 146/147 (+AC)	Hb Tak	HBB:c.440_441dupAC	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
1320	CD 147 (+TA)	Hb Monplaisir	HBB:c.442_443dupTA	β	Causative	β-chain variant	NG_000007.3	72016
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
3048	3'UTR, +C, -TGGATTCT	N/A	HBB:c.96_103delTGGATTCTinsC	β	Causative	β-thalassaemia	NG_000007.3	72113
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
277	Poly A (-TA); (AATAAA>AAAA)	N/A	HBB:c.110_111delTA	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72128
278	Poly A (-AATAA) (polyA (-TAAAA))	N/A	HBB:c.110_114del	β	Causative	β-thalassaemia, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	72128
4025	Poly A (-T) AATAAA>AA-AAA	N/A	HBB:c.*110del	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
3046	3'UTR +115-+116 (-AA) (Poly A (-AA))	N/A	HBB:c.115_116del	β	Causative	β-thalassaemia	NG_000007.3	72133
3933	3'UTR +116 (+A) (β nt + 1590 (+A))	N/A	HBB:c.*116dup	β	Causative	β-thalassaemia	NG_000007.3	72134
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
3930	TTS +43 (+A) (β nt +1651 (+A))	N/A	HBB:c.*177dup	β	Causative	β-thalassaemia	NG_000007.3	72195
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

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