Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.219418499_219419548del	CA1139655693	DES	c.37_578+508del c.37_495+591del	ClinVar
2	g.219418599C>A	CA217053	DES	c.137C>A (p.Ser46Tyr)	ClinVar dbSNP gnomAD v4
2	g.219418599C=	CA1329209882	DES	c.137C= (p.Ser46=)
2	g.219418599C>G	CA350683275	DES	c.137C>G (p.Ser46Cys)	dbSNP gnomAD v4
2	g.219418599C>T	CA217055	DES	c.137C>T (p.Ser46Phe)	ClinVar dbSNP
2	g.219418600C>A	CA431427515	DES	c.138C>A (p.Ser46=)	ClinVar gnomAD v4
2	g.219418600C=	CA1329209883	DES	c.138C= (p.Ser46=)
2	g.219418600C>G	CA431427517	DES	c.138C>G (p.Ser46=)	dbSNP
2	g.219418600C>T	CA431427519	DES	c.138C>T (p.Ser46=)
2	g.219418601A=	CA1329209884	DES	c.139A= (p.Ser47=)
2	g.219418601A>C	CA350683288	DES	c.139A>C (p.Ser47Arg)
2	g.219418601A>G	CA65980788	DES	c.139A>G (p.Ser47Gly)	dbSNP
2	g.219418601A>T	CA350683283	DES	c.139A>T (p.Ser47Cys)
2	g.219418602G>A	CA350683303	DES	c.140G>A (p.Ser47Asn)
2	g.219418602G>C	CA350683309	DES	c.140G>C (p.Ser47Thr)
2	g.219418602G>T	CA350683312	DES	c.140G>T (p.Ser47Ile)	ClinVar dbSNP
2	g.219418603C>A	CA2125032	DES	c.141C>A (p.Ser47Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418603C=	CA1329209885	DES	c.141C= (p.Ser47=)
2	g.219418603C>G	CA350683339	DES	c.141C>G (p.Ser47Arg)
2	g.219418603C>T	CA431427524	DES	c.141C>T (p.Ser47=)
2	g.219418604T>A	CA350683344	DES	c.142T>A (p.Ser48Thr)
2	g.219418604T>C	CA350683347	DES	c.142T>C (p.Ser48Pro)
2	g.219418604T>G	CA350683348	DES	c.142T>G (p.Ser48Ala)
2	g.219418604_219418608del	CA2663249089	DES	c.142_146del (p.Ser48AspfsTer?)	gnomAD v4
2	g.219418605C>A	CA350683352	DES	c.143C>A (p.Ser48Ter)	gnomAD v4
2	g.219418605C>G	CA350683353	DES	c.143C>G (p.Ser48Trp)
2	g.219418605C>T	CA350683357	DES	c.143C>T (p.Ser48Leu)	gnomAD v4
2	g.219418606G>A	CA431427528	DES	c.144G>A (p.Ser48=)	ClinVar dbSNP gnomAD v4
2	g.219418606G>C	CA431427530	DES	c.144G>C (p.Ser48=)
2	g.219418606G=	CA1329209886	DES	c.144G= (p.Ser48=)
2	g.219418606G>T	CA431427531	DES	c.144G>T (p.Ser48=)	gnomAD v4
2	g.219418607G>A	CA350683367	DES	c.145G>A (p.Val49Met)	dbSNP gnomAD v2 gnomAD v4
2	g.219418607G>C	CA350683360	DES	c.145G>C (p.Val49Leu)
2	g.219418607G=	CA1329209887	DES	c.145G= (p.Val49=)
2	g.219418607G>T	CA350683362	DES	c.145G>T (p.Val49Leu)
2	g.219418608T>A	CA350683373	DES	c.146T>A (p.Val49Glu)
2	g.219418608T>C	CA308287	DES	c.146T>C (p.Val49Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418608T>G	CA350683393	DES	c.146T>G (p.Val49Gly)
2	g.219418608T=	CA1329209888	DES	c.146T= (p.Val49=)
2	g.219418609G>A	CA431427534	DES	c.147G>A (p.Val49=)
2	g.219418609G>C	CA431427537	DES	c.147G>C (p.Val49=)	gnomAD v4
2	g.219418609G>T	CA431427536	DES	c.147G>T (p.Val49=)
2	g.219418610A=	CA1329209889	DES	c.148A= (p.Thr50=)
2	g.219418610A>C	CA350683394	DES	c.148A>C (p.Thr50Pro)
2	g.219418610A>G	CA350683395	DES	c.148A>G (p.Thr50Ala)
2	g.219418610A>T	CA2125033	DES	c.148A>T (p.Thr50Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418611C>A	CA350683396	DES	c.149C>A (p.Thr50Lys)	gnomAD v4
2	g.219418611C>G	CA350683397	DES	c.149C>G (p.Thr50Arg)
2	g.219418611C>T	CA350683398	DES	c.149C>T (p.Thr50Met)	gnomAD v4
2	g.219418612G>A	CA431427539	DES	c.150G>A (p.Thr50=)	dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched