IthaGenes

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Showing all entries with the following effect: initiation codon (Show All):

IthaID	Common Name	Hb Name	HGVS Name	Genes	Functionality	Phenotype	Locus	Position
3051	Init CD ACCATG>-CCATG	N/A	HBA2:c.-3delA	α2	Causative	α-thalassaemia	NG_000006.1	33773
3604	Init CD ATG>GTG [Met>Pro]	N/A	HBA2:c.1A>G	α2	Causative	α-thalassaemia	NG_000006.1	33776
3050	Init CD ATG>TTG [Met>Leu]	N/A	HBA2:c.1A>T	α2	Causative	α-thalassaemia	NG_000006.1	33776
344	Init CD ATG>-TG	N/A	HBA2:c.1delA	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33776
3754	Init CD ATG>AAG [Met>Lys]	N/A	HBA2:c.2T>A	α2	Causative	α-thalassaemia	NG_000006.1	33777
2460	Init CD ATG>AGG [Met>Arg]	N/A	HBA2:c.2T>G	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33777
343	Init CD ATG>A-G	N/A	HBA2:c.2delT	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33777
342	Init CD ATG>ACG [Met>Thr]	N/A	HBA2:c.2T>C	α2	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	33777
3564	Init CD ATG>ATC [Met>Ile]	N/A	HBA2:c.3G>C	α2	Causative	α-thalassaemia	NG_000006.1	33778
3027	Init CD ATG>ATT [Met>Ile]	Hb Valdecilla	HBA2:c.3G>T	α2	Causative	α-chain variant	NG_000006.1	33778
341	Init CD ATG>GTG	N/A	HBA1:c.1A>G	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37580
3719	Init CD ATG>ACG [Met>Thr]	N/A	HBA1:c.2T>C	α1	Causative	α-thalassaemia	NG_000006.1	37581
3250	Init CD ATG>A-G	N/A	HBA1:c.2delT	α1	Causative	α-thalassaemia	NG_000006.1	37581
3147	Init CD ATG>AAG [Met>Lys]	N/A	HBA1:c.2T>A	α1	Causative	α-thalassaemia, Haemolytic anaemia	NG_000006.1	37581
1330	Init CD ATG>ATA [Met>Ile]	N/A	HBD:c.3G>A	δ	Causative	δ-thalassaemia	NG_000007.3	63185
42	Init CD ATG>GTG	N/A	HBB:c.1A>G	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70595
43	Init CD ATG>CTG	N/A	HBB:c.1A>C	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70595
46	Init CD ATG>AAG	N/A	HBB:c.2T>A	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70596
45	Init CD ATG>AGG	N/A	HBB:c.2T>G	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70596
44	Init CD ATG>ACG	N/A	HBB:c.2T>C	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70596
49	Init CD ATG>ATT	N/A	HBB:c.3G>T	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70597
48	Init CD ATG>ATA	N/A	HBB:c.3G>A	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70597
47	Init CD ATG>ATC	N/A	HBB:c.3G>C	β	Causative	β-thalassaemia, Ineffective erythropoiesis, Haemolytic anaemia	NG_000007.3	70597

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