Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.7567353G>A	CA362675436	DSP	c.1045-1G>A (n.1045-1G>A) n.369-1G>A
6	g.7567353G>C	CA362675437	DSP	c.1045-1G>C (n.1045-1G>C) n.369-1G>C	ClinVar
6	g.7567353G>T	CA362675439	DSP	c.1045-1G>T (n.1045-1G>T) n.369-1G>T	gnomAD v4
6	g.7567354G>A	CA362675445	DSP	c.1045G>A (p.Ala349Thr) n.369G>A
6	g.7567354G>C	CA362675443	DSP	c.1045G>C (p.Ala349Pro) n.369G>C	ClinVar
6	g.7567354G>T	CA362675442	DSP	c.1045G>T (p.Ala349Ser) n.369G>T
6	g.7567355C>A	CA133955569	DSP	c.1046C>A (p.Ala349Asp) n.370C>A	dbSNP
6	g.7567355C=	CA1608620512	DSP	c.1046C= (p.Ala349=) n.370C=
6	g.7567355C>G	CA362675447	DSP	c.1046C>G (p.Ala349Gly) n.370C>G
6	g.7567355C>T	CA362675449	DSP	c.1046C>T (p.Ala349Val) n.370C>T	dbSNP
6	g.7567356C>A	CA448520034	DSP	c.1047C>A (p.Ala349=) n.371C>A
6	g.7567356C=	CA1608620516	DSP	c.1047C= (p.Ala349=) n.371C=
6	g.7567356C>G	CA448520036	DSP	c.1047C>G (p.Ala349=) n.371C>G
6	g.7567356C>T	CA448520038	DSP	c.1047C>T (p.Ala349=) n.371C>T	ClinVar dbSNP
6	g.7567357T>A	CA362675451	DSP	c.1048T>A (p.Tyr350Asn) n.372T>A
6	g.7567357T>C	CA362675452	DSP	c.1048T>C (p.Tyr350His) n.372T>C	dbSNP gnomAD v3 gnomAD v4
6	g.7567357T>G	CA362675455	DSP	c.1048T>G (p.Tyr350Asp) n.372T>G
6	g.7567357T=	CA1608620522	DSP	c.1048T= (p.Tyr350=) n.372T=
6	g.7567358A=	CA1608620529	DSP	c.1049A= (p.Tyr350=) n.373A=
6	g.7567358A>C	CA362675457	DSP	c.1049A>C (p.Tyr350Ser) n.373A>C	ClinVar
6	g.7567358A>G	CA362675459	DSP	c.1049A>G (p.Tyr350Cys) n.373A>G	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.7567358A>T	CA362675458	DSP	c.1049A>T (p.Tyr350Phe) n.373A>T
6	g.7567359T>A	CA362675460	DSP	c.1050T>A (p.Tyr350Ter) n.374T>A
6	g.7567359T>C	CA448520046	DSP	c.1050T>C (p.Tyr350=) n.374T>C	gnomAD v4
6	g.7567359T>G	CA362675461	DSP	c.1050T>G (p.Tyr350Ter) n.374T>G
6	g.7567360A=	CA1608620542	DSP	c.1051A= (p.Met351=) n.375A=
6	g.7567360A>C	CA362675462	DSP	c.1051A>C (p.Met351Leu) n.375A>C
6	g.7567360A>G	CA362675463	DSP	c.1051A>G (p.Met351Val) n.375A>G	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.7567360A>T	CA362675464	DSP	c.1051A>T (p.Met351Leu) n.375A>T
6	g.7567361T>A	CA362675466	DSP	c.1052T>A (p.Met351Lys) n.376T>A
6	g.7567361T>C	CA362675468	DSP	c.1052T>C (p.Met351Thr) n.376T>C	ClinVar dbSNP
6	g.7567361T>G	CA362675470	DSP	c.1052T>G (p.Met351Arg) n.376T>G	ClinVar
6	g.7567362G>A	CA362675471	DSP	c.1053G>A (p.Met351Ile) n.377G>A
6	g.7567362G>C	CA362675472	DSP	c.1053G>C (p.Met351Ile) n.377G>C
6	g.7567362G>T	CA362675475	DSP	c.1053G>T (p.Met351Ile) n.377G>T
6	g.7567362_7567368delinsGGACACT	CA1608620547	DSP	c.1053_1059delinsGGACACT (p.Met351=) n.377_383delinsGGACACT
6	g.7567363G>A	CA362675480	DSP	c.1054G>A (p.Asp352Asn) n.378G>A	ClinVar gnomAD v4
6	g.7567363G>C	CA362675477	DSP	c.1054G>C (p.Asp352His) n.378G>C
6	g.7567363G>T	CA362675478	DSP	c.1054G>T (p.Asp352Tyr) n.378G>T
6	g.7567363_7567368delinsCA	CA16618315	DSP	c.1054_1059delinsCA (p.Asp352HisfsTer20) n.378_383delinsCA	ClinVar dbSNP
6	g.7567364A>C	CA362675483	DSP	c.1055A>C (p.Asp352Ala) n.379A>C
6	g.7567364A>G	CA362675484	DSP	c.1055A>G (p.Asp352Gly) n.379A>G
6	g.7567364A>T	CA362675486	DSP	c.1055A>T (p.Asp352Val) n.379A>T
6	g.7567364_7567370delinsACACTCT	CA1608620560	DSP	c.1055_1061delinsACACTCT (p.Asp352=) n.379_385delinsACACTCT
6	g.7567365C>A	CA362675488	DSP	c.1056C>A (p.Asp352Glu) n.380C>A
6	g.7567365C=	CA1608620563	DSP	c.1056C= (p.Asp352=) n.380C=
6	g.7567365C>G	CA362675490	DSP	c.1056C>G (p.Asp352Glu) n.380C>G
6	g.7567365C>T	CA448520069	DSP	c.1056C>T (p.Asp352=) n.380C>T	dbSNP
6	g.7567365_7567370del	CA1608620562	DSP	c.1056_1061del (p.Asp352_Leu354delinsGlu) n.380_385del	ClinVar dbSNP
6	g.7567366A>C	CA362675491	DSP	c.1057A>C (p.Thr353Pro) n.381A>C

Number of alleles fetched