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.219418657_219418663del	CA2663249309	DES	c.195_201del (p.Leu66ArgfsTer?)	gnomAD v4
2	g.219418657C>A	CA431427668	DES	c.195C>A (p.Gly65=)	gnomAD v4
2	g.219418657C=	CA1329209916	DES	c.195C= (p.Gly65=)
2	g.219418657C>G	CA431427669	DES	c.195C>G (p.Gly65=)
2	g.219418657C>T	CA431427671	DES	c.195C>T (p.Gly65=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219418658C>A	CA350683798	DES	c.196C>A (p.Leu66Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418658C=	CA1329209917	DES	c.196C= (p.Leu66=)
2	g.219418658C>G	CA350683802	DES	c.196C>G (p.Leu66Val)
2	g.219418658C>T	CA431427678	DES	c.196C>T (p.Leu66=)	gnomAD v4
2	g.219418659T>A	CA350683804	DES	c.197T>A (p.Leu66Gln)	gnomAD v4
2	g.219418659T>C	CA350683816	DES	c.197T>C (p.Leu66Pro)	gnomAD v4
2	g.219418659T>G	CA350683807	DES	c.197T>G (p.Leu66Arg)
2	g.219418660G>A	CA431427682	DES	c.198G>A (p.Leu66=)	gnomAD v4
2	g.219418660G>C	CA431427684	DES	c.198G>C (p.Leu66=)	gnomAD v4
2	g.219418660G>T	CA431427683	DES	c.198G>T (p.Leu66=)	gnomAD v4
2	g.219418663del	CA2663249374	DES	c.201del (p.Ser68ArgfsTer?)	gnomAD v4
2	g.219418661G>A	CA2125037	DES	c.199G>A (p.Gly67Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219418661G>C	CA350683827	DES	c.199G>C (p.Gly67Arg)
2	g.219418661G=	CA1329209918	DES	c.199G= (p.Gly67=)
2	g.219418661G>T	CA350683832	DES	c.199G>T (p.Gly67Trp)	gnomAD v4
2	g.219418662G>A	CA350683834	DES	c.200G>A (p.Gly67Glu)
2	g.219418662G>C	CA350683839	DES	c.200G>C (p.Gly67Ala)	dbSNP gnomAD v2 gnomAD v4
2	g.219418662G=	CA1329209919	DES	c.200G= (p.Gly67=)
2	g.219418662G>T	CA350683842	DES	c.200G>T (p.Gly67Val)	gnomAD v4
2	g.219418663G>A	CA431427692	DES	c.201G>A (p.Gly67=)
2	g.219418663G>C	CA431427694	DES	c.201G>C (p.Gly67=)
2	g.219418663G=	CA1329209920	DES	c.201G= (p.Gly67=)
2	g.219418663G>T	CA431427695	DES	c.201G>T (p.Gly67=)	dbSNP gnomAD v3 gnomAD v4
2	g.219418664T>A	CA350683846	DES	c.202T>A (p.Ser68Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.219418664T>C	CA350683847	DES	c.202T>C (p.Ser68Pro)
2	g.219418664T>G	CA350683853	DES	c.202T>G (p.Ser68Ala)
2	g.219418664T=	CA1329209921	DES	c.202T= (p.Ser68=)
2	g.219418665C>A	CA350683858	DES	c.203C>A (p.Ser68Ter)	gnomAD v4
2	g.219418665C>G	CA350683862	DES	c.203C>G (p.Ser68Trp)
2	g.219418665C>T	CA350683867	DES	c.203C>T (p.Ser68Leu)
2	g.219418666G>A	CA431427698	DES	c.204G>A (p.Ser68=)	dbSNP gnomAD v4
2	g.219418666G>C	CA431427699	DES	c.204G>C (p.Ser68=)
2	g.219418666G=	CA1329209922	DES	c.204G= (p.Ser68=)
2	g.219418666G>T	CA431427700	DES	c.204G>T (p.Ser68=)	gnomAD v4
2	g.219418666_219418667delinsAT	CA2740096472	DES	c.204_205delinsAT (p.Ser68=)	ClinVar
2	g.219418667C>A	CA350683874	DES	c.205C>A (p.Leu69Met)	gnomAD v4
2	g.219418667C>G	CA350683873	DES	c.205C>G (p.Leu69Val)
2	g.219418667C>T	CA431427702	DES	c.205C>T (p.Leu69=)	ClinVar dbSNP
2	g.219418668T>A	CA350683876	DES	c.206T>A (p.Leu69Gln)
2	g.219418668T>C	CA350683882	DES	c.206T>C (p.Leu69Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219418668T>G	CA350683884	DES	c.206T>G (p.Leu69Arg)
2	g.219418668T=	CA1329209923	DES	c.206T= (p.Leu69=)
2	g.219418669G>A	CA431427717	DES	c.207G>A (p.Leu69=)
2	g.219418669G>C	CA431427710	DES	c.207G>C (p.Leu69=)

Number of alleles fetched