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.219418592G>A	CA16617477	DES	c.130G>A (p.Gly44Ser)	ClinVar dbSNP gnomAD v4
2	g.219418592G>C	CA350683162	DES	c.130G>C (p.Gly44Arg)
2	g.219418592G=	CA1329209877	DES	c.130G= (p.Gly44=)
2	g.219418592G>T	CA350683170	DES	c.130G>T (p.Gly44Cys)	gnomAD v4
2	g.219418593G>A	CA350683178	DES	c.131G>A (p.Gly44Asp)	dbSNP gnomAD v3 gnomAD v4
2	g.219418593G>C	CA350683184	DES	c.131G>C (p.Gly44Ala)
2	g.219418593G=	CA1329209878	DES	c.131G= (p.Gly44=)
2	g.219418593G>T	CA350683193	DES	c.131G>T (p.Gly44Val)	ClinVar dbSNP gnomAD v4
2	g.219418594C>A	CA2125031	DES	c.132C>A (p.Gly44=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418594C=	CA1329209879	DES	c.132C= (p.Gly44=)
2	g.219418594C>G	CA431427506	DES	c.132C>G (p.Gly44=)
2	g.219418594C>T	CA2125030	DES	c.132C>T (p.Gly44=)	dbSNP ExAC gnomAD v2
2	g.219418595T>A	CA350683210	DES	c.133T>A (p.Ser45Thr)
2	g.219418595T>C	CA350683201	DES	c.133T>C (p.Ser45Pro)
2	g.219418595T>G	CA350683203	DES	c.133T>G (p.Ser45Ala)
2	g.219418596C>A	CA350683216	DES	c.134C>A (p.Ser45Tyr)	gnomAD v4
2	g.219418596C=	CA1329209880	DES	c.134C= (p.Ser45=)
2	g.219418596C>G	CA350683219	DES	c.134C>G (p.Ser45Cys)
2	g.219418596C>T	CA350683243	DES	c.134C>T (p.Ser45Phe)	dbSNP
2	g.219418597C>A	CA431427509	DES	c.135C>A (p.Ser45=)
2	g.219418597C=	CA1329209881	DES	c.135C= (p.Ser45=)
2	g.219418597C>G	CA431427510	DES	c.135C>G (p.Ser45=)	gnomAD v4
2	g.219418597C>T	CA431427512	DES	c.135C>T (p.Ser45=)	dbSNP gnomAD v4
2	g.219418598T>A	CA350683250	DES	c.136T>A (p.Ser46Thr)
2	g.219418598T>C	CA350683255	DES	c.136T>C (p.Ser46Pro)
2	g.219418598T>G	CA350683259	DES	c.136T>G (p.Ser46Ala)
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

Number of alleles fetched