Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80108376A>C	CA401364696	GAA	c.1042A>C (p.Lys348Gln)
17	g.80108376A>G	CA401364700	GAA	c.1042A>G (p.Lys348Glu)
17	g.80108376A>T	CA401364698	GAA	c.1042A>T (p.Lys348Ter)
17	g.80108377A=	CA2277812696	GAA	c.1043A= (p.Lys348=)
17	g.80108377A>C	CA401364702	GAA	c.1043A>C (p.Lys348Thr)
17	g.80108377A>G	CA8815131	GAA	c.1043A>G (p.Lys348Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108377A>T	CA401364704	GAA	c.1043A>T (p.Lys348Met)
17	g.80108378G>A	CA502178319	GAA	c.1044G>A (p.Lys348=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80108378G>C	CA401364707	GAA	c.1044G>C (p.Lys348Asn)
17	g.80108378G=	CA2277812697	GAA	c.1044G= (p.Lys348=)
17	g.80108378G>T	CA401364709	GAA	c.1044G>T (p.Lys348Asn)
17	g.80108379A=	CA2277812698	GAA	c.1045A= (p.Ser349=)
17	g.80108379A>C	CA401364711	GAA	c.1045A>C (p.Ser349Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.80108379A>G	CA401364715	GAA	c.1045A>G (p.Ser349Gly)	ClinVar
17	g.80108379A>T	CA401364713	GAA	c.1045A>T (p.Ser349Cys)
17	g.80108380G>A	CA401364717	GAA	c.1046G>A (p.Ser349Asn)
17	g.80108380G>C	CA401364721	GAA	c.1046G>C (p.Ser349Thr)
17	g.80108380G>T	CA401364718	GAA	c.1046G>T (p.Ser349Ile)	gnomAD v4
17	g.80108381del	CA891862612	GAA	c.1047del (p.Ser349ArgfsTer?)
17	g.80108381C>A	CA401364723	GAA	c.1047C>A (p.Ser349Arg)	gnomAD v4
17	g.80108381C=	CA2277812699	GAA	c.1047C= (p.Ser349=)
17	g.80108381C>G	CA401364726	GAA	c.1047C>G (p.Ser349Arg)
17	g.80108381C>T	CA8815132	GAA	c.1047C>T (p.Ser349=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108382G>A	CA8815133	GAA	c.1048G>A (p.Val350Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108382G>C	CA401364731	GAA	c.1048G>C (p.Val350Leu)
17	g.80108382G=	CA2277812700	GAA	c.1048G= (p.Val350=)
17	g.80108382G>T	CA401364729	GAA	c.1048G>T (p.Val350Leu)
17	g.80108383T>A	CA401364732	GAA	c.1049T>A (p.Val350Glu)
17	g.80108383T>C	CA401364734	GAA	c.1049T>C (p.Val350Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80108383T>G	CA401364736	GAA	c.1049T>G (p.Val350Gly)
17	g.80108383T=	CA2277812702	GAA	c.1049T= (p.Val350=)
17	g.80108383_80108384delinsTG	CA2277812701	GAA	c.1049_1050delinsTG (p.Val350=)
17	g.80108384G>A	CA502402307	GAA	c.1050G>A (p.Val350=)
17	g.80108384G>C	CA502402308	GAA	c.1050G>C (p.Val350=)
17	g.80108384G>T	CA502402309	GAA	c.1050G>T (p.Val350=)
17	g.80108384_80108385del	CA891862620	GAA	c.1050_1051del (p.Val351AlafsTer?)
17	g.80108385del	CA274024	GAA	c.1051del (p.Val351CysfsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80108385G>A	CA401364739	GAA	c.1051G>A (p.Val351Met)	dbSNP gnomAD v3 gnomAD v4
17	g.80108385G>C	CA401364741	GAA	c.1051G>C (p.Val351Leu)
17	g.80108385G=	CA2277812703	GAA	c.1051G= (p.Val351=)
17	g.80108385G>T	CA401364742	GAA	c.1051G>T (p.Val351Leu)
17	g.80108386T>A	CA401364745	GAA	c.1052T>A (p.Val351Glu)
17	g.80108386T>C	CA401364748	GAA	c.1052T>C (p.Val351Ala)
17	g.80108386T>G	CA401364746	GAA	c.1052T>G (p.Val351Gly)
17	g.80108386_80108456del	CA2695227076	GAA	c.1052_1076-33del
17	g.80108387G>A	CA294891845	GAA	c.1053G>A (p.Val351=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80108387G>C	CA502402313	GAA	c.1053G>C (p.Val351=)
17	g.80108387G=	CA2277812704	GAA	c.1053G= (p.Val351=)
17	g.80108387G>T	CA8815134	GAA	c.1053G>T (p.Val351=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108388C>A	CA401364751	GAA	c.1054C>A (p.Gln352Lys)	ClinVar

Number of alleles fetched