IthaGenes

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Showing all entries with Increased Oxygen Affinity phenotype (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
443	CD 6 GAC>AAC [Asp>Asn]	Hb Dunn	HBA1:c.19G>A \| HBA2:c.19G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	33794, 37598
3038	CD 6 GAC>TAC [Asp>Tyr]	Hb Woodville	HBA2:c.19G>T	α2	Causative	α-chain variant	NG_000006.1	33794
448	CD 6 GAC>GTC [Asp>Val]	Hb Ferndown	HBA1:c.20A>T \| HBA2:c.20A>T	α1 or α2	Causative	α-chain variant	NG_000006.1	33795, 37599
449	CD 6 GAC>GCC [Asp>Ala]	Hb Sawara	HBA1:c.20A>C \| HBA2:c.20A>C	α1 or α2	Causative	α-chain variant	NG_000006.1	33795, 37599
516	CD 37 +GAA [+Glu]	Hb Catonsville	HBA1:c.114_115insGAA \| HBA2:c.114_115insGAA	α1 or α2	Causative	α-chain variant	NG_000006.1	34006, 37810
519	CD 40 AAG>GAG [Lys>Glu]	Hb Kariya	HBA1:c.121A>G \| HBA2:c.121A>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34013, 37817
520	CD 40 AAG>CAG [Lys>Gln]	Hb Linwood	HBA2:c.121A>C	α2	Causative	α-chain variant	NG_000006.1	34013
521	CD 40 AAG>ATG [Lys>Met]	Hb Kanagawa	HBA2:c.122A>T	α2	Causative	α-chain variant	NG_000006.1	34014
525	CD 41 ACC>TCC or AGC [Thr>Ser]	Hb Miyano	HBA1:c.124A>T \| HBA1:c.125C>G \| HBA2:c.124A>T \| HBA2:c.125C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34016, 37820
532	CD 44 CCG>CGG [Pro>Arg]	Hb Kawachi	HBA1:c.134C>G \| HBA2:c.134C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34026, 37830
533	CD 44 CCG>CTG [Pro>Leu]	Hb Milledgeville	HBA2:c.134C>T	α2	Causative	α-chain variant	NG_000006.1	34026
535	CD 45 CAC>GAC [His>Asp]	Hb Poitiers	HBA1:c.136C>G \| HBA2:c.136C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34028, 37832
621	CD 77 CCC>CAC [Pro>His]	Hb Toulon	HBA2:c.233C>A	α2	Causative	α-chain variant	NG_000006.1	34125
638	CD 84 AGC>AAC [Ser>Asn]	Hb Meulan	HBA2:c.254G>A	α2	Causative	α-chain variant	NG_000006.1	34146
640	CD 85 GAC>TAC [Asp>Tyr]	Hb Atago	HBA1:c.256G>T \| HBA2:c.256G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34148, 37952
642	CD 85 GAC>GTC [Asp>Val]	Hb Inkster	HBA2:c.257A>T	α2	Causative	α-chain variant	NG_000006.1	34149
650	CD 88 GCG>TCG [Ala>Ser]	Hb Loire	HBA1:c.265G>T \| HBA2:c.265G>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34157, 37961
2367	CD 88 GCG>ACG [Ala>Thr]	Hb Voorhees	HBA2:c.265G>A	α2	Causative	α-chain variant	NG_000006.1	34157
652	CD 88 GCG>GTG [Ala>Val]	Hb Columbia Missouri	HBA1:c.266C>T \| HBA2:c.266C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34158, 37962
653	CD 88 GCG>GGG [Ala>Gly]	Hb Valparaiso	HBA1:c.266C>G \| HBA2:c.266C>G	α1 or α2	Causative	α-chain variant	NG_000006.1	34158, 37962
657	CD 89 CAC>CTC [His>Leu]	Hb Luton	HBA2:c.269A>T	α2	Causative	α-chain variant	NG_000006.1	34161
667	CD 92 CGG>TGG [Arg>Trp]	Hb Cemenelum	HBA1:c.277C>T \| HBA2:c.277C>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34169, 37973
669	CD 92 CGG>CTG [Arg>Leu]	Hb Chesapeake	HBA2:c.278G>T	α2	Causative	α-chain variant	NG_000006.1	34170
680	CD 95 CCG>GCG [Pro>Ala]	Hb Denmark Hill	HBA2:c.286C>G	α2	Causative	α-chain variant	NG_000006.1	34178
682	CD 95 CCG>TCG [Pro>Ser]	Hb Rampa	NM_000517.4(HBA2):c.286C>T	α2	Causative	α-chain variant	NG_000006.1	34178
683	CD 95 CCG>CTG [Pro>Leu]	Hb G-Georgia	HBA2:c.287C>T	α2	Causative	α-chain variant	NG_000006.1	34179
687	CD AAC>CAC [Asn>His] (Hb Shinbashi)	Hb Fuchu-II	HBA2:c.292A>C	α2	Causative	α-chain variant	NG_000006.1	34184
688	CD 97 AAC>AAA [Asn>Lys]	Hb Dallas	HBA2:c.294C>A	α2	Causative	α-chain variant	NG_000006.1	34186
704	CD 110 GCC>ACC [Ala>Thr]	Hb Tonosho	HBA1:c.331G>A \| HBA2:c.331G>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34365, 38176
3758	CD 126 GAC>AAC [Asp>Asn]	Hb Tarrant	HBA2:c.379G>A	α2	Causative	α-chain variant	NG_000006.1	34413
741	CD 126 GAC>GGC [Asp>Gly]	Hb West One	HBA2:c.380A>G	α2	Causative	α-chain variant	NG_000006.1	34414
742	CD 126 GAC>GGC [Asp>Val]	Hb Fukutomi	HBA1:c.380A>T \| HBA2:c.380A>T	α1 or α2	Causative	α-chain variant	NG_000006.1	34414, 38225
757	CD 133 AGC>AGA [Ser>Arg] (Hb Footscray)	Hb Val de Marne	HBA2:c.402C>A	α2	Causative	α-chain variant	NG_000006.1	34436
768	CD 138 TCC>CCC [Ser>Pro]	Hb Attleboro	HBA1:c.415T>C \| HBA2:c.415T>C	α1 or α2	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	34449, 38260
770	CD 138 TCC>TTC [Ser>Phe]	Hb Frauenfeld	HBA2:c.416C>T	α2	Causative	α-chain variant	NG_000006.1	34450
772	CD 139 AAA>GAA [Lys>Glu]	Hb Hanamaki-2	HBA2:c.418A>G	α2	Causative	α-chain variant	NG_000006.1	34452
775	CD 139 (-A)	Hb Wayne	HBA2:c.420delA	α2	Causative	α-chain variant	NG_000006.1	34454
3712	CD 140 TAC>TCC [Tyr>Ser]	Hb Angers	HBA2:c.422A>C	α2	Causative	α-chain variant	NG_000006.1	34456
777	CD 140 TAC>TAA	Hb Natal	HBA2:c.423C>A	α2	Causative	α-chain variant	NG_000006.1	34457
778	CD 141 CGT>CAT [Arg>Ser]	Hb J-Cubujuqui	HBA1:c.424C>A \| HBA2:c.424C>A	α1 or α2	Causative	α-chain variant	NG_000006.1	34458, 38269
780	CD 141 CTG>TGT [Arg>Cys]	Hb Nunobiki	HBA2:c.424C>T	α2	Causative	α-chain variant	NG_000006.1	34458
435	CD 2 CTG>CGG [Leu>Arg]	Hb Chongqing	HBA1:c.8T>G	α1	Causative	α-chain variant	NG_000006.1	37587
442	CD 6 GAC>TAC [Asp>Tyr]	Hb Woodville	HBA1:c.19G>T	α1	Causative	α-chain variant	NG_000006.1	37598
468	CD 16 AAG>ATG [Lys>Met]	Hb Harbin	HBA1:c.50A>T	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37629
2995	CD 28 GCC>ACC [Ala>Thr]	Hb Bramall Lane	HBA1:c.85G>A	α1	Causative	α-chain variant	NG_000006.1	37664
509	CD 34 CTG>CGG [Leu>Arg] (Hb Ogi)	Hb Queens	HBA1:c.104T>G	α1	Causative	α-chain variant	NG_000006.1	37800
2968	CD 36 TTC>TAC [ Phe>Tyr]	Hb Kempten	HBA1:c.110T>A	α1	Causative	α-chain variant	NG_000006.1	37806
523	CD 40 AAG>AAC [Lys>Asn]	Hb Saratoga Springs	HBA1:c.123G>C	α1	Causative	α-chain variant	NG_000006.1	37819
536	CD 45 CAC>CGC [His>Arg]	Hb Fort de France	HBA1:c.137A>G	α1	Causative	α-chain variant	NG_000006.1	37833
2529	CD 50 +GGAGCC	Hb Bakersfield	HBA1:c.151_152insGGAGCC	α1	Causative	α-chain variant	NG_000006.1	37847
556	CD 52-59 (-24 bp)	Hb J-Biskra	HBA1:c.157_180del	α1	Causative	α-chain variant	NG_000006.1	37853
585	CD 63 GCC>GAC [Ala>Asp] (Hb J-Pontoise)	Hb Pontoise	NM_000558.5(HBA1):c.191C>A	α1	Causative	α-chain variant	NG_000006.1	37887
597	CD 68 +GCGCTGACCAAC [+Ala-Leu-Thr-Asn]	Hb Esch	HBA1:c.207_208insGCGCTGACCAAC	α1	Causative	α-chain variant	NG_000006.1	37904
609	CD 74 GAC>GGC [Asp>Gly]	Hb Chapel Hill	HBA1:c.224A>G	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	37920
2504	CD 77 CCC>CAC [Pro>His]	Hb Toulon	HBA1:c.233C>A	α1	Causative	α-chain variant	NG_000006.1	37929
639	CD 85 GAC>AAC [Asp>Asn]	Hb G-Norfolk	HBA1:c.256G>A	α1	Causative	α-chain variant	NG_000006.1	37952
668	CD 92 CGG>CAG [Arg>Gln]	Hb J-Cape Town	HBA1:c.278G>A	α1	Causative	α-chain variant	NG_000006.1	37973
681	CD 95 CCG>ACG [Pro>Thr]	Hb Godavari	NM_000558.3(HBA1):c.286C>A	α1	Causative	α-chain variant	NG_000006.1	37982
684	CD 95 CCG>CGG [Pro>Arg]	Hb St. Luke's	HBA1:c.287C>G	α1	Causative	α-chain variant	NG_000006.1	37983
3914	CD 97 AAC>AGC [Asn>Ser]	Hb Northwood	HBA1:c.293A>G	α1	Causative	α-chain variant	NG_000006.1	37989
708	CD 112 CAC>GAC [His>Asp]	Hb Hopkins-II	NM_000558.5(HBA1):c.337C>G	α1	Causative	α-chain variant	NG_000006.1	38182
726	CD 119 CCT>CTT [Pro>Leu]	Hb Diamant	HBA1:c.359C>T	α1	Causative	α-chain variant	NG_000006.1	38204
738	CD 126 GAC>CAC [Asp>His]	Hb Sassari	HBA1:c.379G>C	α1	Causative	α-chain variant	NG_000006.1	38224
739	CD 126 GAC>TΑC [Asp>Tyr]	Hb Montefiore	HBA1:c.379G>T	α1, α1 or α2	Causative	α-chain variant	NG_000006.1	38224
743	CD 126 GAC>GAG [Asp>Glu]	Hb Burlington	HBA1:c.381C>G	α1	Causative	α-chain variant	NG_000006.1	38226
3789	CD 127 AAG>CAG [Lys>Gln]	Hb Waikato	HBA1:c.382A>C	α1	Causative	α-chain variant	NG_000006.1	38227
749	CD 130 GCT>GTT [Ala>Val]	Hb Westborough	HBA1:c.392C>T	α1	Causative	α-chain variant, Haemolytic anaemia	NG_000006.1	38237
771	CD 139 AAA>GAA [Ala>Glu]	Hb Hanamaki-1	HBA1:c.418A>G	α1	Causative	α-chain variant	NG_000006.1	38263
773	CD 139 AAA>ACA [Lys>Thr]	Hb Tokoname	NM_000558.5(HBA1):c.419A>C	α1	Causative	α-chain variant	NG_000006.1	38264
776	CD 140 TAC>CAC [Tyr>His]	Hb Ethiopia	NM_000558.5(HBA1):c.421T>C	α1	Causative	α-chain variant	NG_000006.1	38266
782	CD 141 CGT>CTT [Arg>Leu]	Hb Legnano	HBA1:c.425G>T	α1	Causative	α-chain variant	NG_000006.1	38270
783	CD 141 CGT>CAT [Arg>His]	Hb Suresnes	NM_000558.3(HBA1):c.425G>A	α1	Causative	α-chain variant	NG_000006.1	38270
1405	(Hb Anti-Lepore P-Nilotic)	Hb P-Nilotic	NG_000007.3:g.63461_70874dup	δ, β	Causative	δ-chain variant	NG_000007.3
1449	CD 101 GAG>AAG	Hb F-La Grange	HBG2:c.304G>A	Gγ	Causative	γ-chain variant	NG_000007.3	43313
1459	CD 146 CAC>TAC	Hb F-Onoda	HBG2:c.439C>T	Gγ	Causative	γ-chain variant	NG_000007.3	44334
2392	CD 143 CAC>TAC [His>Tyr]	Hb Noah Mehmet Oeztuerk	HBD:c.430C>T	δ	Causative	δ-chain variant	NG_000007.3	64638
799	CD 2 CAT>CGT	Hb Deer Lodge	HBB:c.8A>G	β	Causative	β-chain variant	NG_000007.3	70602
800	CD 2 CAT>CAA or CAG	Hb Okayama	HBB:c.9T>A \| HBB:c.9T>G	β	Causative	β-chain variant	NG_000007.3	70603
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
838	CD 9 TCT>TGT	Hb Pôrto Alegre	HBB:c.29C>G	β	Causative	β-chain variant	NG_000007.3	70623
847	CD 11 GTT>GAT	Hb Windsor	HBB:c.35T>A	β	Causative	β-chain variant	NG_000007.3	70629
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
855	CD 17-19 (-GGTGAA)	Hb Lyon	HBB:c.54_59del	β	Causative	β-chain variant	NG_000007.3	70648
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
880	CD 23 GTT>TTT	Hb Palmerston North	HBB:c.70G>T	β	Causative	β-chain variant	NG_000007.3	70664
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
897	CD 27 GCC>GTC	Hb Grange-Blanche	HBB:c.83C>T	β	Causative	β-chain variant	NG_000007.3	70677
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
905	CD 29 GGC>GAC	Hb Lufkin	HBB:c.89G>A	β	Causative	β-chain variant	NG_000007.3	70683
908	CD 31 CTG>GTG	Hb Badalona	HBB:c.94C>G	β	Causative	β-chain variant	NG_000007.3	70818
3364	CD 33 GTG>TTG [Val>Leu]	Hb Venissieux	HBB:c.100G>T	β	Causative	β-chain variant	NG_000007.3	70824
919	CD 34 GTC>CTC	Hb Nantes	HBB:c.103G>C	β	Causative	β-chain variant	NG_000007.3	70827
920	CD 34 GTC>TTC	Hb Pitie-Salpetriere	HBB:c.103G>T	β	Causative	β-chain variant	NG_000007.3	70827
921	CD 34 GTC>GAC	Hb Santander	HBB:c.104T>A	β	Causative	β-chain variant	NG_000007.3	70828
3700	CD 34 GTC>GCC [Val>Ala]	Hb San Francisco-KP	HBB:c.104T>C	β	Causative	β-thalassaemia, β-chain variant	NG_000007.3	70828
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
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
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
2962	CD 39 CAG>CCG [Gln>Pro]	Hb Hyden	HBB:c.119A>C	β	Causative	β-chain variant	NG_000007.3	70843
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
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
965	CD 47 GAT>GTT	Hb Muravera	HBB:c.143A>T	β	Causative	β-chain variant	NG_000007.3	70867
974	CD 51 CCT>CGT	Hb Willamette	HBB:c.155C>G	β	Causative	β-chain variant	NG_000007.3	70879
983	CD 54 GTT>GAT	Hb Jacksonville	HBB:c.164T>A	β	Causative	β-chain variant	NG_000007.3	70888
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
1006	CD 62 GCT>CCT	Hb Duarte	HBB:c.187G>C	β	Causative	β-chain variant	NG_000007.3	70911
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
1011	CD 63 CAT>CGT [His>Arg] (Hb Zurich)	Hb Zürich	HBB:c.191A>G	β	Causative	β-chain variant	NG_000007.3	70915
1013	CD 64 GGC>GAC	Hb J-Calabria	HBB:c.194G>A	β	Causative	β-chain variant	NG_000007.3	70918
1027	CD 68 CTC>CAC	Hb Brisbane	HBB:c.206T>A	β	Causative	β-chain variant	NG_000007.3	70930
2969	CD 71 TTT>TAT [Phe>Tyr]	Hb Saint-Clair	HBB:c.215T>A	β	Causative	β-chain variant	NG_000007.3	70939
1038	CD 72 AGT>AGA	Hb Headington	HBB:c.219T>A	β	Causative	β-chain variant	NG_000007.3	70943
1048	CD 74 GGC>GAC	Hb Shepherds Bush	HBB:c.224G>A	β	Causative	β-chain variant	NG_000007.3	70948
1052	CD 75 CTG>CGG	Hb Pasadena	HBB:c.227T>G	β	Causative	β-chain variant	NG_000007.3	70951
1063	CD 79 GAC>CAC	Hb Tigraye	HBB:c.238G>C	β	Causative	β-chain variant	NG_000007.3	70962
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
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
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
1086	CD 86 GCC>GAC	Hb Olomouc	HBB:c.260C>A	β	Causative	β-chain variant	NG_000007.3	70984
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
1099	CD 90 GAG>GAC [Glu>Asp]	Hb Pierre-Bénite	HBB:c.273G>C	β	Causative	β-chain variant	NG_000007.3	70997
1107	CD 92 CAC>CGC	Hb Mozhaisk	HBB:c.278A>G	β	Causative	β-chain variant	NG_000007.3	71002
1109	CD 92 CAC>CAG [His>Gln] (Hb Istanbul)	Hb Saint Etienne	HBB:c.279C>G	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71003
1100	CD 93-97 (-15 bp)	Hb Gun Hill \| Hb GH	HBB:c.280_294delTGTGACAAGCTGCAC	β	Causative	β-chain variant	NG_000007.3	71004
1110	CD 93 TGT>CGT: CD 121 GAA>CAA	Hb Cleveland	HBB:c.[280T>C;364G>C]	β	Causative	β-chain variant	NG_000007.3	71004
1111	CD 93 TGT>CGT	Hb Okazaki	HBB:c.280T>C	β	Causative	β-chain variant	NG_000007.3	71004
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
1120	CD 95 AAG>ATG	Hb J-Cordoba	HBB:c.287A>T	β	Causative	β-chain variant	NG_000007.3	71011
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
1126	CD 97 CAC>TAC	Hb Moriguchi	HBB:c.292C>T	β	Causative	β-chain variant	NG_000007.3	71016
1128	CD 97 CAC>CTC	Hb Wood	HBB:c.293A>T	β	Causative	β-chain variant	NG_000007.3	71017
1129	CD 97 CAC>CCC	Hb Nagoya	HBB:c.293A>C	β	Causative	β-chain variant	NG_000007.3	71017
1130	CD 97 CAC>CAA, also CAC>CAG	Hb Malmö	HBB:c.294C>A \| HBB:c.294C>G	β	Causative	β-chain variant	NG_000007.3	71018
1131	CD 98 GTG>ATG [Val>Met] (Hb San Francisco (Pacific), Hb Ube-1)	Hb Köln	HBB:c.295G>A	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71019
1132	CD 98 GTG>GGG	Hb Nottingham	HBB:c.296T>G	β	Causative	β-chain variant	NG_000007.3	71020
1134	CD 98 GTG>GCG	Hb Djelfa	HBB:c.296T>C	β	Causative	β-chain variant	NG_000007.3	71020
1135	CD 99 GAT>TAT	Hb Ypsilanti	HBB:c.298G>T	β	Causative	β-chain variant	NG_000007.3	71022
1136	CD 99 GAT>CAT	Hb Yakima	HBB:c.298G>C	β	Causative	β-chain variant	NG_000007.3	71022
1137	CD 99 GAT>AAT	Hb Kempsey	HBB:c.298G>A	β	Causative	β-chain variant	NG_000007.3	71022
1138	CD 99 GAT>GGT	Hb Hotel-Dieu	HBB:c.299A>G	β	Causative	β-chain variant	NG_000007.3	71023
1139	CD 99 GAT>GCT	Hb Radcliffe	HBB:c.299A>C	β	Causative	β-chain variant	NG_000007.3	71023
1140	CD 99 GAT>GTT	Hb Chemilly	HBB:c.299A>T	β	Causative	β-chain variant	NG_000007.3	71023
1141	CD 99 GAT>GAA [Asp>Glu]	Hb Coimbra	HBB:c.300T>A	β	Causative	β-chain variant	NG_000007.3	71024
1142	CD 100 CCT>GCT [Pro>Ala]	Hb Nice	HBB:c.301C>G	β	Causative	β-chain variant	NG_000007.3	71025
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
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
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
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
1157	CD 103 TTC>TTG	Hb Heathrow	HBB:c.312C>G	β	Causative	β-chain variant	NG_000007.3	71036
1163	CD 105 CTC>TTC	Hb South Milwaukee	HBB:c.316C>T	β	Causative	β-chain variant	NG_000007.3	71890
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
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
1193	CD 115 GCC>GTC [Ala>Val]	Hb Roma	HBB:c.347C>T	β	Causative	β-chain variant, Haemolytic anaemia	NG_000007.3	71921
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
1223	CD 122 TTC>TCC [Phe>Ser]	Hb Caruaru	HBB:c.368T>C	β	Causative	β-chain variant	NG_000007.3	71942
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
1244	CD 129 GCC>CCC	Hb Crete	HBB:c.388G>C	β	Causative	β-chain variant	NG_000007.3	71962
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
1265	CD 135 GCT>CCT [Ala>Pro]	Hb Altdorf	HBB:c.406G>C	β	Causative	β-chain variant	NG_000007.3	71980
1277	CD 139 AAT>TAT	Hb Aurora	HBB:c.418A>T	β	Causative	β-chain variant	NG_000007.3	71992
1282	CD 140 GCC>ACC	Hb Saint-Jacques	HBB:c.421G>A	β	Causative	β-chain variant	NG_000007.3	71995
1283	CD 140 GCC>GAC [Ala>Asp]	Hb Himeji	HBB:c.422C>A	β	Causative	β-chain variant	NG_000007.3	71996
1284	CD 140 GCC>GTC	Hb Puttelange	HBB:c.422C>T	β	Causative	β-chain variant	NG_000007.3	71996
1285	CD 141 CTG>GTG; CD 144 AAG>TAG	Hb Kochi	HBB:c.[424C>G;433A>T]	β	Causative	β-chain variant	NG_000007.3	71998
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
1292	CD 142 GCC>CCC	Hb Toyoake	HBB:c.427G>C	β	Causative	β-chain variant	NG_000007.3	72001
1293	CD 142 GCC>GAC	Hb Ohio	HBB:c.428C>A	β	Causative	β-chain variant	NG_000007.3	72002
2297	CD 142 GCC>GTC (Ala>Val)	Hb Waterland	HBB:c.428C>T	β	Causative	β-chain variant	NG_000007.3	72002
1295	CD 143 CAC>GAC	Hb Rancho Mirage	HBB:c.430C>G	β	Causative	β-chain variant	NG_000007.3	72004
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
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
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
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
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

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