IthaGenes

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Showing all β-chain variants (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
3941	CD 14 TGG>TCG [Trp>Ser]	Hb Jax	HBA2:c.44G>C	α2	Causative	β-chain variant	NG_000006.1	33819
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
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
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
790	CD 1 GTG>ATG	Hb South Florida	HBB:c.4G>A	β	Causative	β-chain variant	NG_000007.3	70598
791	CD 1 GTG>TTG	Hb Niigata	HBB:c.4G>T	β	Causative	β-chain variant	NG_000007.3	70598
792	CD 1 GTG>GGG	Hb Watford	HBB:c.5T>G	β	Causative	β-chain variant	NG_000007.3	70599
793	CD 1 GTG>GCG	Hb Raleigh	HBB:c.5T>C	β	Causative	β-chain variant	NG_000007.3	70599
794	CD 1 GTG>GAG	Hb Doha	HBB:c.5T>A	β	Causative	β-chain variant	NG_000007.3	70599
795	CD 2 CAT>TAT	Hb Fukuoka	HBB:c.7C>T	β	Causative	β-chain variant	NG_000007.3	70601
2542	CD 2 CAT>AAT [His>Asn]	Hb Franklin Park	HBB:c.7C>A	β	Causative	β-chain variant	NG_000007.3	70601
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
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
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
3794	CD 3 (CTG>AAG) [Leu>Lys]	Hb Jiangnan	HBB:c.10_11delinsAA	β	Causative	β-chain variant	NG_000007.3	70604
803	CD 3 CTG>CAG [Leu>Gln]	Hb Santo Domingo	HBB:c.11T>A	β	Causative	β-chain variant	NG_000007.3	70605
2359	CD 3 CTG>CCG [Leu>Pro]	Hb Jabalpur	HBB:c.11T>C	β	Causative	β-chain variant	NG_000007.3	70605
3878	CD 3 CTG>CGG [Leu>Arg]	Hb Sedgwick	HBB:c.11T>G	β	Causative	β-chain variant	NG_000007.3	70605
2326	CD 4 ACT>CCT [Thr>Pro]	Hb Benin City	HBB:c.13A>C	β	Causative	β-chain variant	NG_000007.3	70607
804	CD 4 ACT>AAT	Hb Wurzburg	HBB:c.14C>A	β	Causative	β-chain variant	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
805	CD 5 CCT>TCT	Hb Tyne	HBB:c.16C>T	β	Causative	β-chain variant	NG_000007.3	70610
806	CD 5 CCT>GCT [Pro>Ala] (Hb Hinchingbrooke)	Hb Gorwihl	HBB:c.16C>G	β	Causative	β-chain variant	NG_000007.3	70610
807	CD 5 CCT>CGT	Hb Warwickshire	HBB:c.17C>G	β	Causative	β-chain variant	NG_000007.3	70611
2321	CD 5 CCT>CTT [Pro>Leu]	Hb Aix-les-Bains	HBB:c.17C>T	β	Causative	β-chain variant	NG_000007.3	70611
808	CD 6 GAG>AAG; CD 95 AAG>GAG	Hb Arlington Park	HBB:c.[19G>A;286A>G]	β	Causative	β-chain variant	NG_000007.3	70613
809	CD 6 GAG>AAG [Glu>Lys] and CD 98 GTG>ATG [Val>Met]	Hb Kingsbury	HBB:c.[19G>A ;295G>A]	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70613
810	CD 6 GAG>AAG [Glu>Lys]	HbC	HBB:c.19G>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70613
811	CD 6 GAG>AAG [Glu>Lys]; CD 37 TGG>AGG or CGG [Trp>Arg]	Hb C-Rothschild	HBB:c.[19G>A;112T>A] \| HBB:c.[19G>A;112T>C]	β	Causative	β-chain variant	NG_000007.3	70613, 70836
812	CD 6 GAG>AAG; CD 83 GGC>GAC	Hb C-New Cross	HBB:c.[19G>A;251G>A]	β	Causative	β-chain variant	NG_000007.3	70613
813	CD 6 GAG>CAG	Hb Machida	HBB:c.19G>C	β	Causative	β-chain variant	NG_000007.3	70613
814	CD 6 GAG>GTG	Hb S-South End	HBB:c.[20A>T;399A>C]	β	Causative	β-chain variant	NG_000007.3	70614
815	CD 6 GAG>GTG; CD 23 GTT>ATT	Hb S-Antilles	HBB:c.[20A>T;70G>A]	β	Causative	β-chain variant	NG_000007.3	70614
816	CD 6 GAG>GTG; CD 58 CCT>CGT	Hb C-Ziguinchor	HBB:c.[20A>T;176C>G]	β	Causative	β-chain variant	NG_000007.3	70614
817	CD 6 GAG>GTG; CD 73 GAT>AAT	Hb C-Harlem	HBB:c.[20A>T;220G>A]	β	Causative	β-chain variant	NG_000007.3	70614
818	CD 6 GAG>GTG; CD 82AAG>AAT or AAC	Hb S-Providence	HBB:c.[20A>T;249G>C] \| HBB:c.[20A>T;249G>T]	β	Causative	β-chain variant	NG_000007.3	70614
819	CD 6 GAG>GTG; CD 142 GCC>GTC	Hb S-Travis	HBB:c.[20A>T;428C>T]	β	Causative	β-chain variant	NG_000007.3	70614
820	CD 6 GAG>GTG [Glu>Val]; CD 37 TGG>GGG [Trp>Gly]	Hb C-Ndjamena; Hb S-Northwick	HBB:c.[20A>T;112T>G]	β	Causative	β-chain variant	NG_000007.3	70614, 70836
821	CD 6 GAG>GTG; CD 121 GAA>AAA	Hb S-Oman	HBB:c.[20A>T;364G>A]	β	Causative	β-chain variant	NG_000007.3	70614
822	CD 6 GAG>GTG [Glu>Val], CD 8 AAG>ACG [Lys>Thr]	Hb S-Clichy	HBB:c.[20A>T;26A>C]	β	Causative	β-chain variant	NG_000007.3	70614
823	CD 6 GAG>GTG; CD 90 GAG>AAG	Hb S-Cameroon	HBB:c.[20A>T;271G>A]	β	Causative	β-chain variant	NG_000007.3	70614
824	CD 6 GAG>GTG [Glu>Val] (Sickle-cell)	HbS	HBB:c.20A>T	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70614
825	CD 6 GAG>GTG; CD 68 CTC>TTC	Hb Jamaica Plain	HBB:c.[20A>T;205C>T]	β	Causative	β-chain variant	NG_000007.3	70614
826	CD 6 GAG>GCG	Hb G-Makassar	HBB:c.20A>C	β	Causative	β-chain variant	NG_000007.3	70614
827	CD 6 GAG>GGG [Glu>Gly]	Hb Lavagna	HBB:c.20A>G	β	Causative	β-chain variant	NG_000007.3	70614
2440	CD 6 GAG>GTG [Glu>Val] AND CD 65 AAG>GAG [Lys>Glu]	Hb S-Sao Paulo	HBB:c.[20A>T ;196A>G]	β	Causative	β-chain variant	NG_000007.3	70614, 70920
3324	CD 6 GAG>GTG [Glu>Val]; CD 139 AAT>AGT [Asn>Ser]	Hb S-Wake	HBB:c.[20A>T;419A>G]	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70614, 71993
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
2382	CD 7 GAG>GAT [Glu>Asp]	Hb Stockholm	HBB:c.24G>T	β	Causative	β-chain variant	NG_000007.3	70618
831	CD 8 AAG>CAG [Lys>Gln]	Hb J-Luhe	HBB:c.25A>C	β	Causative	β-chain variant	NG_000007.3	70619
832	CD 8 AAG>GAG	Hb N-Timone	HBB:c.25A>G	β	Causative	β-chain variant	NG_000007.3	70619
833	CD 8 AAG>ACG	Hb Rio Grande	HBB:c.26A>C	β	Causative	β-chain variant	NG_000007.3	70620
834	CD 8 AAG>ATG	Hb Nakano	HBB:c.26A>T	β	Causative	β-chain variant	NG_000007.3	70620
835	CD 8 AAG>AGG [Lys>Arg]	Hb Lucknow	HBB:c.26A>G	β	Causative	β-chain variant	NG_000007.3	70620
836	CD 8 AAG>AAC	Hb Limassol	HBB:c.27G>C	β	Causative	β-chain variant	NG_000007.3	70621
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
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
3399	CD 9 TCT>TC-	Hb Antep	HBB:c.30delT	β	Causative	β-chain variant	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
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
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
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
848	CD 13 GCC>GAC	Hb J-Lens	HBB:c.41C>A	β	Causative	β-chain variant	NG_000007.3	70635
3248	CD 13 GCC>GTC [Ala>Val]	Hb Yulin	HBB:c.41C>T	β	Causative	β-chain variant	NG_000007.3	70635
849	CD 14 CTG>CCG	Hb Saki	HBB:c.44T>C	β	Causative	β-chain variant	NG_000007.3	70638
850	CD 14 CTG>CGG	Hb Sogn	HBB:c.44T>G	β	Causative	β-chain variant	NG_000007.3	70638
851	CD 15 TGG>GGG	Hb Randwick	HBB:c.46T>G	β	Causative	β-chain variant	NG_000007.3	70640
852	CD 15 TGG>AGG or CGG	Hb Belfast	HBB:c.46T>A \| HBB:c.46T>C	β	Causative	β-chain variant	NG_000007.3	70640
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
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
856	CD 17 AAG>GAG	Hb Nagasaki	HBB:c.52A>G	β	Causative	β-chain variant	NG_000007.3	70646
857	CD 17 AAG>CAG (Hb Nicosia)	Hb Nikosia	HBB:c.52A>C	β	Causative	β-chain variant	NG_000007.3	70646
2298	CD 17 AAG>ATG (Lys>Met)	Hb Ede	HBB:c.53A>T	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70647
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
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
873	CD 22 GAA>CAA	Hb D-Iran	HBB:c.67G>C	β	Causative	β-chain variant	NG_000007.3	70661
874	CD 22 GAA>AAA	Hb E-Saskatoon	HBB:c.67G>A	β	Causative	β-chain variant	NG_000007.3	70661
875	CD 22 GAA>GTA	Hb D-Granada	HBB:c.68A>T	β	Causative	β-chain variant	NG_000007.3	70662
876	CD 22 GAA>GCA (Hb G-Hsin Chu, Hb G-Saskatoon, Hb G-Taegu)	Hb G-Coushatta	HBB:c.68A>C	β	Causative	β-chain variant	NG_000007.3	70662
877	CD 22 GAA>GGA	Hb G-Taipei	HBB:c.68A>G	β	Causative	β-chain variant	NG_000007.3	70662
872	CD 22-26 (-12bp)	Hb Olinda	HBB:c.69_80delAGTTGGTGGTGA	β	Causative	β-chain variant	NG_000007.3	70663
2330	CD 22 GAA>GAT [Glu>Asp]	Hb Bury	HBB:c.69A>T	β	Causative	β-chain variant	NG_000007.3	70663
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
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
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
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
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
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
900	CD 28 CTG>ATG [Leu>Met]	Hb Chile	HBB:c.85C>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70679
94	CD 28 CTG>CGG [Leu >Arg]	Hb Chesterfield	HBB:c.86T>G	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70680
901	CD 28 CTG>CCG [Leu>Pro]	Hb Genova	HBB:c.86T>C	β	Causative	β-chain variant	NG_000007.3	70680
902	CD 28 CTG>CAG [Leu>Gln]	Hb Saint Louis	HBB:c.86T>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70680
904	CD 29 GGC>AGC [Gly>Ser]	Hb Tizi-Ouzou	HBB:c.88G>A	β	Causative	β-chain variant	NG_000007.3	70682
2523	CD 29 GGC>CGC [Gly>Arg]	Hb Dompierre	HBB:c.88G>C	β	Causative	β-chain variant	NG_000007.3	70682
905	CD 29 GGC>GAC	Hb Lufkin	HBB:c.89G>A	β	Causative	β-chain variant	NG_000007.3	70683
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
100	CD 30 (G>C) or IVS I (-1) AGG>ACG (Arg>Thr) (Hb Kairouan)	Hb Monroe	HBB:c.92G>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70686
125	CD 30/31 +CGG [+Arg]	N/A	HBB:c.93_94insCGG	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	70817
907	CD 30 AGG>AGT [Arg>Ser]	Hb Tacoma	HBB:c.93G>T	β	Causative	β-chain variant	NG_000007.3	70817
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
919	CD 34 GTC>CTC	Hb Nantes	HBB:c.103G>C	β	Causative	β-chain variant	NG_000007.3	70827
920	CD 34 GTC>TTC	Hb Pitie-Salpetriere	HBB:c.103G>T	β	Causative	β-chain variant	NG_000007.3	70827
921	CD 34 GTC>GAC	Hb Santander	HBB:c.104T>A	β	Causative	β-chain variant	NG_000007.3	70828
3700	CD 34 GTC>GCC [Val>Ala]	Hb San Francisco-KP	HBB:c.104T>C	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70828
2331	CD 35 TAC>CAC [Tyr>His]	Hb Fulwood	HBB:c.106T>C	β	Causative	β-chain variant	NG_000007.3	70830
3795	CD 35 TAC>GAC [Tyr>Asp]	Hb Oristano	HBB:c.106T>G	β	Causative	β-chain variant	NG_000007.3	70830
922	CD 35 TAC>TTC [Tyr>Phe]	Hb Philly	HBB:c.107A>T	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70831
923	CD 36 CCT>ACT	Hb Linköping	HBB:c.109C>A	β	Causative	β-chain variant	NG_000007.3	70833
924	CD 36 CCT>GCT	Hb Brie Comte Robert	HBB:c.109C>G	β	Causative	β-chain variant	NG_000007.3	70833
925	CD 36 CCT>TCT	Hb North Chicago	HBB:c.109C>T	β	Causative	β-chain variant	NG_000007.3	70833
926	CD 36 CCT>CGT [Pro>Arg]	Hb Sunnybrook	HBB:c.110C>G	β	Causative	β-chain variant	NG_000007.3	70834
927	CD 36 CCT>CAT	Hb Vila Real	HBB:c.110C>A	β	Causative	β-chain variant	NG_000007.3	70834
928	CD 37 TGG>AGG [Trp>Arg]	Hb Rothschild	HBB:c.112T>A	β	Causative	β-chain variant	NG_000007.3	70836
929	CD 37 TGG>GGG	Hb Howick	HBB:c.112T>G	β	Causative	β-chain variant	NG_000007.3	70836
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
931	CD 37 TGG>TGT [Trp>Cys] (Hb Greendale)	Hb Kent	HBB:c.114G>T	β	Causative	β-chain variant	NG_000007.3	70838
3282	CD 37 TGG>TGC [Trp>Cys] (Hb Kent)	N/A	HBB:c.114G>C	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
935	CD 39 CAG>AAG	Hb Alabama	HBB:c.118C>A	β	Causative	β-chain variant	NG_000007.3	70842
936	CD 39 CAG>GAG	Hb Vaasa	HBB:c.118C>G	β	Causative	β-chain variant	NG_000007.3	70842
937	CD 39 CAG>CGG [Gln>Arg]	Hb Tianshui	HBB:c.119A>G	β	Causative	β-chain variant	NG_000007.3	70843
2962	CD 39 CAG>CCG [Gln>Pro]	Hb Hyden	HBB:c.119A>C	β	Causative	β-chain variant	NG_000007.3	70843
938	CD 39 CAG>CAC	Hb San Bruno	HBB:c.120G>C	β	Causative	β-chain variant	NG_000007.3	70844
4045	CD 40 AGG>GGG [Arg>Gly]	Hb Montpellier	HBB:c.121A>G	β	Causative	β-chain variant	NG_000007.3	70845
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
2544	CD 40 AGG>ACG [Arg>Thr]	Hb Alcorn County	HBB:c.122G>C	β	Causative	β-chain variant	NG_000007.3	70846
941	CD 40 AGG>AGT [Arg>Ser]	Hb Austin	HBB:c.123G>T	β	Causative	β-chain variant	NG_000007.3	70847
3004	CD 41 TTC>GTC [Phe>Val]	Hb Valme	HBB:c.124T>G	β	Causative	β-chain variant	NG_000007.3	70848
942	CD 41 TTC>TGC	Hb Ilmenau	HBB:c.125T>G	β	Causative	β-chain variant	NG_000007.3	70849
943	CD 41 TTC>TCC	Hb Denver	HBB:c.125T>C	β	Causative	β-chain variant	NG_000007.3	70849
944	CD 41 TTC>TAC	Hb Mequon	HBB:c.125T>A	β	Causative	β-chain variant	NG_000007.3	70849
2387	CD 67 GTG>ATG [Val>Met] AND CD 41 TTC>TTG [Phe>Leu]	Hb Brevedent	HBB:c.[202G>A ;126C>G]	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70850
2972	CD 41 TTC>TTA [Phe>Leu]	Hb Wilton	HBB:c.126C>A	β	Causative	β-chain variant	NG_000007.3	70850
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
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
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
2531	CD 45 TTT>GTT [Phe>Val]	Hb Duc Pho	HBB:c.136T>G	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70860
955	CD 45 TTT>TCT	Hb Cheverly	HBB:c.137T>C	β	Causative	β-chain variant	NG_000007.3	70861
956	CD 45 TTT>TAT [Phe>Tyr]	Hb Den Haag	HBB:c.137T>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70861
957	CD 45 TTT>TGT	Hb Arta	HBB:c.137T>G	β	Causative	β-chain variant	NG_000007.3	70861
958	CD 46 GGG>AGG	Hb Gainesville-GA	HBB:c.139G>A	β	Causative	β-chain variant	NG_000007.3	70863
3567	CD 46 GGG>CGG [Gly>Arg]	Hb Cenxi	HBB:c.139G>C	β	Causative	β-chain variant	NG_000007.3	70863
959	CD 46 GGG>GAG	Hb K-Ibadan	HBB:c.140G>A	β	Causative	β-chain variant	NG_000007.3	70864
960	CD 47 GAT>AAT [Asp>Asn]	Hb G-Copenhagen	HBB:c.142G>A	β	Causative	β-chain variant	NG_000007.3	70866
961	CD 47 GAT>CAT [Asp>His]	Hb Maryland	HBB:c.142G>C	β	Causative	β-chain variant	NG_000007.3	70866
962	CD 47 GAT>TAT	Hb Maputo	HBB:c.142G>T	β	Causative	β-chain variant	NG_000007.3	70866
963	CD 47 GAT>GCT	Hb Avicenna	HBB:c.143A>C	β	Causative	β-chain variant	NG_000007.3	70867
964	CD 47 GAT>GGT	Hb Gavello	HBB:c.143A>G	β	Causative	β-chain variant	NG_000007.3	70867
965	CD 47 GAT>GTT	Hb Muravera	HBB:c.143A>T	β	Causative	β-chain variant	NG_000007.3	70867
966	CD 48 CTG>CGG	Hb Okaloosa	HBB:c.146T>G	β	Causative	β-chain variant	NG_000007.3	70870
967	CD 48 CTG>CCG	Hb Bab-Saadoun	HBB:c.146T>C	β	Causative	β-chain variant	NG_000007.3	70870
3494	CD 49 TCC>CCC [Ser>Pro]	Hb Yunnan	HBB:c.148T>C	β	Causative	β-chain variant	NG_000007.3	70872
968	CD 49 TCC>TGC	Hb Colima	HBB:c.149C>G	β	Causative	β-chain variant	NG_000007.3	70873
969	CD 49 TCC>TTC	Hb Las Palmas	HBB:c.149C>T	β	Causative	β-chain variant	NG_000007.3	70873
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
970	CD 50 ACT>TCT [Thr>Ser]	Hb Zurich-Langstrasse	HBB:c.151A>T	β	Causative	β-chain variant	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
972	CD 51 CCT>TCT, CD 52 GAT>AAT	Hb Grenoble	HBB:c.[154C>T;157G>A]	β	Causative	β-chain variant	NG_000007.3	70878
973	CD 51 CCT>CAT	Hb North Manchester	HBB:c.155C>A	β	Causative	β-chain variant	NG_000007.3	70879
974	CD 51 CCT>CGT	Hb Willamette	HBB:c.155C>G	β	Causative	β-chain variant	NG_000007.3	70879
975	CD 52 GAT>TAT [Asp>Tyr]	Hb Languidic	HBB:c.157G>T	β	Causative	β-chain variant	NG_000007.3	70881
976	CD 52 GAT>CAT	Hb Summer Hill	HBB:c.157G>C	β	Causative	β-chain variant	NG_000007.3	70881
977	CD 52 GAT>AAT	Hb Osu Christiansborg	HBB:c.157G>A	β	Causative	β-chain variant	NG_000007.3	70881
978	CD 52 GAT>GGT	Hb Hokusetsu	HBB:c.158A>G	β	Causative	β-chain variant	NG_000007.3	70882
979	CD 52 GAT>GCT	Hb Ocho Rios	HBB:c.158A>C	β	Causative	β-chain variant	NG_000007.3	70882
980	CD 52 GAT>GTT [Asp>Val]	Hb Akron	HBB:c.158A>T	β	Causative	β-chain variant	NG_000007.3	70882
982	CD 53 GCT>ACT	Hb Acharnes	HBB:c.160G>A	β	Causative	β-chain variant	NG_000007.3	70884
2964	CD 53 GCT>GTT [Ala>Val]	Hb Midnapore	HBB:c.161C>T	β	Causative	β-chain variant	NG_000007.3	70885
3368	CD 54 GTT>CTT [Val>Leu]	Hb Askew	HBB:c.163G>C	β	Causative	β-chain variant	NG_000007.3	70887
983	CD 54 GTT>GAT	Hb Jacksonville	HBB:c.164T>A	β	Causative	β-chain variant	NG_000007.3	70888
984	CD 55 ATG>AAG	Hb Matera	HBB:c.167T>A	β	Causative	β-chain variant	NG_000007.3	70891
985	CD 56 GGC>TGC	Hb Leeds	HBB:c.169G>T	β	Causative	β-chain variant	NG_000007.3	70893
986	CD 56 GGC>CGC	Hb Hamadan	HBB:c.169G>C	β	Causative	β-chain variant	NG_000007.3	70893
987	CD 56 GGC>CGC; CD 86 GCC>CCC	Hb Poissy	HBB:c.[169G>C;259G>C]	β	Causative	β-chain variant	NG_000007.3	70893
988	CD 56 GGC>GAC (Hb J-Korat , Hb J-Manado , Hb J-Meinung)	Hb J-Bangkok	HBB:c.170G>A	β	Causative	β-chain variant	NG_000007.3	70894
989	CD 56-60 (-12bp)	Hb Tochigi	HBB:c.170_181del	β	Causative	β-chain variant	NG_000007.3	70894
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
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
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
997	CD 59 AAG>ACG [Lys>Thr]	Hb J-Kaohsiung	HBB:c.179A>C	β	Causative	β-chain variant	NG_000007.3	70903
3747	CD 59 AAG>ATG [Lys>Met]	Hb Dahua	HBB:c.179A>T	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
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
1002	CD 61 AAG>CAG	Hb Pocos de Caldas	HBB:c.184A>C	β	Causative	β-chain variant	NG_000007.3	70908
1003	CD 61 AAG>GAG	Hb N-Seattle	HBB:c.184A>G	β	Causative	β-chain variant	NG_000007.3	70908
1004	CD 61 AAG>ATG	Hb Bologna	HBB:c.185A>T	β	Causative	β-chain variant	NG_000007.3	70909
1005	CD 61 AAG>AAC or AAT [Lys>Asn]	Hb Hikari	HBB:c.186G>C \| HBB:c.186G>T	β	Causative	β-chain variant	NG_000007.3	70910
1006	CD 62 GCT>CCT	Hb Duarte	HBB:c.187G>C	β	Causative	β-chain variant	NG_000007.3	70911
1007	CD 62 GCT>GAT	Hb J-Europa	HBB:c.188C>A	β	Causative	β-chain variant	NG_000007.3	70912
3342	CD 62 GCT>GTT [Ala>Val]	Hb Hachioji	HBB:c.188C>T	β	Causative	β-chain variant	NG_000007.3	70912
1008	CD 63 CAT>AAT [His>Asn]	Hb Haná	HBB:c.190C>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70914
1009	CD 63 CAT>TAT (Hb Hörlein-Weber, Hb Leipzig, Hb M-Arhus, Hb M-Chicago, Hb M-Emory, Hb M-Erlangen, Hb M-Hamburg, Hb M-Hida, Hb M-Kurume, Hb M-Radom, Hb Novi Sad)	Hb M-Saskatoon	HBB:c.190C>T	β	Causative	β-chain variant	NG_000007.3	70914
1010	CD 63 CAT>CCT	Hb Bicêtre	HBB:c.191A>C	β	Causative	β-chain variant	NG_000007.3	70915
1011	CD 63 CAT>CGT [His>Arg] (Hb Zurich)	Hb Zürich	HBB:c.191A>G	β	Causative	β-chain variant	NG_000007.3	70915
2456	CD 63 CAT>CTT [His>Leu]	Hb Temple Street	HBB:c.191A>T	β	Causative	β-chain variant	NG_000007.3	70915
3629	CD 64 GGC>AGC [Gly>Ser]	Hb Hezhou	HBB:c.193G>A	β	Causative	β-chain variant	NG_000007.3	70917
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
2976	CD 64 GGC>GTC [Gly>Val]	Hb Calgary	HBB:c.194G>T	β	Causative	β-thalassaemia, 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
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
1019	CD 66 AAA>ACA	Hb Chico	HBB:c.200A>C	β	Causative	β-chain variant	NG_000007.3	70924
3367	CD 66 AAA>ATA [Lys>Ile]	Hb Vigo	HBB:c.200A>T	β	Causative	β-chain variant	NG_000007.3	70924
1020	CD 66 AAA>AAT	Hb Ulm	HBB:c.201A>T	β	Causative	β-chain variant	NG_000007.3	70925
1021	CD 67 GTG>ATG [Val>Met] (Hb Bristol-Alesha, Hb Bristol)	Hb Alesha	HBB:c.202G>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70926
1023	CD 67 GTG>GGG [Val>Gly]	Hb Manukau	HBB:c.203T>G	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70927
1024	CD 67 GTG>GAG	Hb M-Milwaukee-I	HBB:c.203T>A	β	Causative	β-chain variant	NG_000007.3	70927
1025	CD 67 GTG>GCG	Hb Sydney	HBB:c.203T>C	β	Causative	β-chain variant	NG_000007.3	70927
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
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
3798	CD 69 GGT>TGT [Gly>Cys]	Hb Miguel Servet	HBB:c.208G>T	β	Causative	β-chain variant	NG_000007.3	70932
1032	CD 69 GGT>GAT	Hb Rambam	HBB:c.209G>A	β	Causative	β-chain variant	NG_000007.3	70933
1033	CD 70 GCC>CCC [Ala>Pro]	Hb Abington	HBB:c.211G>C	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70935
3799	CD 70 GCC>ACC [Ala>Thr]	Hb La Mesa	HBB:c.211G>A	β	Causative	β-chain variant	NG_000007.3	70935
1034	CD 70 GCC>GAC	Hb Seattle	HBB:c.212C>A	β	Causative	β-chain variant	NG_000007.3	70936
1035	CD 70 GCC>GGC [Ala>Gly]	Hb Hershey	HBB:c.212C>G	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70936
1036	CD 70 GCC>GTC	Hb Marineo	HBB:c.212C>T	β	Causative	β-chain variant	NG_000007.3	70936
1037	CD 71 TTT>TCT	Hb Christchurch	HBB:c.215T>C	β	Causative	β-chain variant	NG_000007.3	70939
2969	CD 71 TTT>TAT [Phe>Tyr]	Hb Saint-Clair	HBB:c.215T>A	β	Causative	β-chain variant	NG_000007.3	70939
2401	CD 72 AGT>ACT [Ser>Thr]	Hb Phimai	HBB:c.218G>C	β	Causative	β-chain variant	NG_000007.3	70942
1038	CD 72 AGT>AGA	Hb Headington	HBB:c.219T>A	β	Causative	β-chain variant	NG_000007.3	70943
1039	CD 73 GAT>TAT	Hb Vancouver	HBB:c.220G>T	β	Causative	β-chain variant	NG_000007.3	70944
1040	CD 73 GAT>AAT (Hb Korle-Bu)	Hb G-Accra	HBB:c.220G>A	β	Causative	β-chain variant	NG_000007.3	70944
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
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
1053	CD 76 GCT>CCT	Hb Calais	HBB:c.229G>C	β	Causative	β-chain variant	NG_000007.3	70953
1054	CD 76 GCT>GTT [Ala>Val]	Hb Harlequin	HBB:c.230C>T	β	Causative	β-chain variant	NG_000007.3	70954
1055	CD 76 GCT>GAT	Hb J-Chicago	HBB:c.230C>A	β	Causative	β-chain variant	NG_000007.3	70954
1056	CD 77 CAC>TAC; CD 80 AAC>AGC	Hb Villeparisis	HBB:c.[232C>T;242A>G]	β	Causative	β-chain variant	NG_000007.3	70956
1057	CD 77 CAC>TAC	Hb Fukuyama	HBB:c.232C>T	β	Causative	β-chain variant	NG_000007.3	70956
1058	CD 77 CAC>GAC	Hb J-Iran	HBB:c.232C>G	β	Causative	β-chain variant	NG_000007.3	70956
2405	CD 77 CAC>AAC [His>Asn]	Hb Heilbronn	HBB:c.232C>A	β	Causative	β-chain variant	NG_000007.3	70956
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
2422	CD 78 CTG>GTG [Leu>Val]	Hb Ullevaal	HBB:c.235C>G	β	Causative	β-chain variant	NG_000007.3	70959
1062	CD 78 CTG>CGG	Hb Quin-Hai	HBB:c.236T>G	β	Causative	β-chain variant	NG_000007.3	70960
3371	CD 78 CTG>CCG [Leu>Pro]	Hb Penang	HBB:c.236T>C	β	Causative	β-chain variant	NG_000007.3	70960
1063	CD 79 GAC>CAC	Hb Tigraye	HBB:c.238G>C	β	Causative	β-chain variant	NG_000007.3	70962
1064	CD 79 GAC>AAC	Hb Yaizu	HBB:c.238G>A	β	Causative	β-chain variant	NG_000007.3	70962
1065	CD 79 GAC>TAC	Hb Tampa	HBB:c.238G>T	β	Causative	β-chain variant	NG_000007.3	70962
1066	CD 79 GAC>GGC [Asp>Gly]	Hb G-Hsi-Tsou	HBB:c.239A>G	β	Causative	β-chain variant	NG_000007.3	70963
3310	CD 79 GAC>GCC [Asp>Ala]	Hb Torbay	HBB:c.239A>C	β	Causative	β-chain variant	NG_000007.3	70963
3919	CD 79 GAC>GAA [Asp>Glu]	Hb Kalundborg	HBB:c.240C>A	β	Causative	β-chain variant	NG_000007.3	70964
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
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
1071	CD 82 AAG>CAG	Hb Tsurumai	HBB:c.247A>C	β	Causative	β-chain variant	NG_000007.3	70971
1072	CD 82 AAG>GAG	Hb Gàmbara	HBB:c.247A>G	β	Causative	β-chain variant	NG_000007.3	70971
1073	CD 82 AAG>ACG	Hb Rahere	HBB:c.248A>C	β	Causative	β-chain variant	NG_000007.3	70972
1074	CD 82 AAG>ATG	Hb Helsinki	HBB:c.248A>T	β	Causative	β-chain variant	NG_000007.3	70972
1075	CD 82 AAG>AGG	Hb Taradale	HBB:c.248A>G	β	Causative	β-chain variant	NG_000007.3	70972
1076	CD 82 AAG>AAC	Hb Providence	HBB:c.249G>C	β	Causative	β-chain variant	NG_000007.3	70973
1077	CD 83 GGC>CGC [Gly>Arg]	Hb Muskegon	HBB:c.250G>C	β	Causative	β-chain variant	NG_000007.3	70974
1078	CD 83 GGC>TGC [Gly>Cys]	Hb Ta-Li	HBB:c.250G>T	β	Causative	β-chain variant	NG_000007.3	70974
2534	CD 83 GGC>AGC [Gly>Ser]	Hb Basking Ridge	HBB:c.250G>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	70974
1079	CD 83 GGC>GAC	Hb Pyrgos	HBB:c.251G>A	β	Causative	β-chain variant	NG_000007.3	70975
1080	CD 84 ACC>GCC	Hb Saale	HBB:c.253A>G	β	Causative	β-chain variant	NG_000007.3	70977
1081	CD 84 ACC>AAC [Thr>Asn]	Hb Beaujolais	HBB:c.254C>A	β	Causative	β-chain variant	NG_000007.3	70978
1082	CD 84 ACC>ATC	Hb Kofu	HBB:c.254C>T	β	Causative	β-chain variant	NG_000007.3	70978
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
1083	CD 85 TTT>TCT (Hb Bryn Mawr)	Hb Buenos Aires	HBB:c.257T>C	β	Causative	β-chain variant	NG_000007.3	70981
2975	CD 85 TTT>TGT [Phe>Cys]	Hb Grantham	HBB:c.257T>G	β	Causative	β-chain variant	NG_000007.3	70981
3586	CD 85 TTT>TTG [Phe>Leu]	Hb Kennisis	HBB:c.258T>G	β	Causative	β-chain variant	NG_000007.3	70982
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
3065	CD 86 GCC>ACC [Ala>Thr]	Hb Seoul	HBB:c.259G>A	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
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
1091	CD 88 CTG>GTG [Leu>Val]	Hb Oofuna	HBB:c.265C>G	β	Causative	β-chain variant	NG_000007.3	70989
3009	CD 88 CTG>ATG [Leu>Met]	Hb NISER	HBB:c.265C>A	β	Causative	β-chain variant	NG_000007.3	70989
1092	CD 88 CTG>CGG	Hb Borås	HBB:c.266T>G	β	Causative	β-chain variant	NG_000007.3	70990
1093	CD 88 CTG>CCG	Hb Santa Ana	HBB:c.266T>C	β	Causative	β-chain variant	NG_000007.3	70990
1095	CD 89 AGT>AAT	Hb Créteil	HBB:c.269G>A	β	Causative	β-chain variant	NG_000007.3	70993
1096	CD 89 AGT>ACT	Hb Villaverde	HBB:c.269G>C	β	Causative	β-chain variant	NG_000007.3	70993
1094	CD 89 AGT>AGR [Ser>Arg]	Hb Vanderbilt	HBB:c.270T>R	β	Causative	β-chain variant	NG_000007.3	70994
2965	CD 89-90 (-TGAG)	Hb Wilde	HBB:c.270_273delTGAG	β	Causative	β-chain variant	NG_000007.3	70994
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
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
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
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
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
1122	CD 96 CTG>GTG	Hb Regina	HBB:c.289C>G	β	Causative	β-chain variant	NG_000007.3	71013
1123	CD 96 CTG>CCG	Hb Debrousse	HBB:c.290T>C	β	Causative	β-chain variant	NG_000007.3	71014
3876	CD 96 CTG>CGG [Leu>Arg]	Hb Laibin	HBB:c.290T>G	β	Causative	β-chain variant	NG_000007.3	71014
1126	CD 97 CAC>TAC	Hb Moriguchi	HBB:c.292C>T	β	Causative	β-chain variant	NG_000007.3	71016
1127	CD 97 CAC>AAC	Hb Santa Clara	HBB:c.292C>A	β	Causative	β-chain variant	NG_000007.3	71016
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
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
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
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
1163	CD 105 CTC>TTC	Hb South Milwaukee	HBB:c.316C>T	β	Causative	β-chain variant	NG_000007.3	71890
4100	CD 105 CTC>GTC [Leu>Val]	Hb Odder	HBB:c.316C>G	β	Causative	β-chain variant	NG_000007.3	71890
2379	CD 6 GAG>GTG [Glu>Val] AND CD 105 CTC>CCC [Leu>Pro]	Hb S-San Martin	HBB:c.[20A>T ;317T>C]	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71891
2404	CD 105 CTC>CCC [Leu>Pro]	Hb Bellevue IV	HBB:c.317T>C	β	Causative	β-chain variant	NG_000007.3	71891
229	CD 106 (CTG >GTG) Leu to Val (Hb Federico II)	Hb L'Aquila	HBB:c.319C>G	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71893
230	CD 106 CTG>CGG [Leu>Arg]	Hb Terre Haute	HBB:c.320T>G	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71894
1166	CD 106 CTG>CCG [Leu>Pro] (Hb Casper)	Hb Southampton	HBB:c.320T>C	β	Causative	β-chain variant	NG_000007.3	71894
1167	CD 106 CTG>CAG	Hb Tübingen	HBB:c.320T>A	β	Causative	β-chain variant	NG_000007.3	71894
1168	CD 107 GGC>CGC	Hb Burke	HBB:c.322G>C	β	Causative	β-chain variant	NG_000007.3	71896
1169	CD 107 GGC>GAC	Hb Lulu Island	HBB:c.323G>A	β	Causative	β-chain variant	NG_000007.3	71897
3309	CD 107 GGC>GTC [Gly>Val]	Hb Nurnberg	HBB:c.323G>T	β	Causative	β-chain variant	NG_000007.3	71897
1170	CD 108 AAC>GAC	Hb Yoshizuka	HBB:c.325A>G	β	Causative	β-chain variant	NG_000007.3	71899
1171	CD 108 AAC>CAC [Asn>His]	Hb Shizuoka	HBB:c.325A>C	β	Causative	β-chain variant	NG_000007.3	71899
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
234	CD 110 CTG>CCG [Leu>Pro]	Hb Showa-Yakushiji	HBB:c.332T>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71906
3384	CD 110 CTG>CGG [Leu>Arg]	Hb London-Ontario	HBB:c.332T>G	β	Causative	β-chain variant	NG_000007.3	71906
1179	CD 111 GTC>CTC, CD 119 GGC>GAC	Hb Fannin-Lubbock II	HBB:c.[334G>C;359G>A]	β	Causative	β-chain variant	NG_000007.3	71908
1180	CD 111 GTC>TTC [Val>Phe]	Hb Peterborough	HBB:c.334G>T	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71908
1181	CD 111 GTC>GCC [Val>Ala]	Hb Stanmore	HBB:c.335T>C	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71909
3001	CD 111 GTC>GGC [Val>Gly]	Hb Belluno	HBB:c.335T>G	β	Causative	β-chain variant	NG_000007.3	71909
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
1185	CD 112 TGT>TGG	Hb Toranomon	HBB:c.339T>G	β	Causative	β-chain variant	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
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
1196	CD 116 CAT>TAT	Hb Rhode Island	HBB:c.349C>T	β	Causative	β-chain variant	NG_000007.3	71923
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
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
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
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
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
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
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
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
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
253	CD 127 (CAG>CCG) Gln to Pro	Hb Houston	HBB:c.383A>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71957
254	CD 127 CAG>CGG [Gln>Arg]	Hb Dieppe	HBB:c.383A>G	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71957
256	CD 127/128 -AGG [Glu-Ala>Pro]	Hb Gunma	HBB:c.383_385delAGG	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71957
257	CD 128/129 (-4, +5, -11 bp) >153aa	N/A	HBB:c.[385_388delinsCCACA;397_407delAAAGTGGTGGC]	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71959
1241	CD 128 GCT>CCT	Hb Mont Saint Aignan	HBB:c.385G>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71959
1242	CD 128 GCT>GTT	Hb Sitia	HBB:c.386C>T	β	Causative	β-chain variant	NG_000007.3	71960
1243	CD 128 GCT>GAT [Ala>Asp]	Hb J-Guantanamo	HBB:c.386C>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71960
1244	CD 129 GCC>CCC	Hb Crete	HBB:c.388G>C	β	Causative	β-chain variant	NG_000007.3	71962
1245	CD 129 GCC>GTC [Ala>Val]	Hb La Desirade	HBB:c.389C>T	β	Causative	β-chain variant	NG_000007.3	71963
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
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
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
1256	CD 132 AAA>GAA [Lys>Glu]	Hb Takasago	HBB:c.397A>G	β	Causative	β-chain variant	NG_000007.3	71971
1257	CD 132 AAA>CAA [Lys>Gln]	Hb K Woolwich	HBB:c.397A>C	β	Causative	β-thalassaemia, β-chain variant, Haemolytic anaemia, Ineffective erythropoiesis	NG_000007.3	71971
1258	CD 132 AAA>ACA	Hb Cook	HBB:c.398A>C	β	Causative	β-chain variant	NG_000007.3	71972
1259	CD 132 AAA>AAC, also AAA>AAT	Hb Yamagata	HBB:c.399A>C \| HBB:c.399A>T	β	Causative	β-chain variant	NG_000007.3	71973
1260	CD 133 GTG>CTG	Hb Extremadura	HBB:c.400G>C	β	Causative	β-chain variant	NG_000007.3	71974
1261	CD 133 GTG>ATG [Val>Met]	Hb La Pommeraie	HBB:c.400G>A	β	Causative	β-chain variant	NG_000007.3	71974
3375	CD 133 GTG>TTG [Val>Leu]	Hb Miringa	HBB:c.400G>T	β	Causative	β-chain variant	NG_000007.3	71974
1262	CD 133 GTG>GCG	Hb Renert	HBB:c.401T>C	β	Causative	β-chain variant	NG_000007.3	71975
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
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
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
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
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
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

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