Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104734_80107789del	CA658795223	GAA	c.148_859-11del	ClinVar
17	g.80105770C>A	CA401362112	GAA	c.568C>A (p.Arg190Ser)
17	g.80105770C=	CA2277811226	GAA	c.568C= (p.Arg190=)
17	g.80105770C>G	CA401362114	GAA	c.568C>G (p.Arg190Gly)
17	g.80105770C>T	CA8814929	GAA	c.568C>T (p.Arg190Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80105771G>A	CA273988	GAA	c.569G>A (p.Arg190His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105771G>C	CA401362118	GAA	c.569G>C (p.Arg190Pro)
17	g.80105771G=	CA2277811227	GAA	c.569G= (p.Arg190=)
17	g.80105771G>T	CA8814930	GAA	c.569G>T (p.Arg190Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105772C>A	CA502177495	GAA	c.570C>A (p.Arg190=)
17	g.80105772C>G	CA502177497	GAA	c.570C>G (p.Arg190=)
17	g.80105772C>T	CA502177498	GAA	c.570C>T (p.Arg190=)	gnomAD v4
17	g.80105773T>A	CA8814931	GAA	c.571T>A (p.Tyr191Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80105773T>C	CA294888098	GAA	c.571T>C (p.Tyr191His)	dbSNP gnomAD v4
17	g.80105773T>G	CA401362120	GAA	c.571T>G (p.Tyr191Asp)	ClinVar dbSNP
17	g.80105773T=	CA2277811228	GAA	c.571T= (p.Tyr191=)
17	g.80105774A=	CA2277811229	GAA	c.572A= (p.Tyr191=)
17	g.80105774A>C	CA401362122	GAA	c.572A>C (p.Tyr191Ser)
17	g.80105774A>G	CA401362123	GAA	c.572A>G (p.Tyr191Cys)	ClinVar dbSNP
17	g.80105774A>T	CA401362125	GAA	c.572A>T (p.Tyr191Phe)
17	g.80105775C>A	CA16041885	GAA	c.573C>A (p.Tyr191Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80105775C=	CA2277811230	GAA	c.573C= (p.Tyr191=)
17	g.80105775C>G	CA401362126	GAA	c.573C>G (p.Tyr191Ter)
17	g.80105775C>T	CA8814932	GAA	c.573C>T (p.Tyr191=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105776G>A	CA401362134	GAA	c.574G>A (p.Glu192Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105776G>C	CA401362130	GAA	c.574G>C (p.Glu192Gln)
17	g.80105776G=	CA2277811231	GAA	c.574G= (p.Glu192=)
17	g.80105776G>T	CA401362132	GAA	c.574G>T (p.Glu192Ter)	COSMIC
17	g.80105777A>C	CA401362136	GAA	c.575A>C (p.Glu192Ala)
17	g.80105777A>G	CA401362137	GAA	c.575A>G (p.Glu192Gly)
17	g.80105777A>T	CA401362139	GAA	c.575A>T (p.Glu192Val)
17	g.80105778G>A	CA502177509	GAA	c.576G>A (p.Glu192=)
17	g.80105778G>C	CA8814933	GAA	c.576G>C (p.Glu192Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105778G=	CA2277811232	GAA	c.576G= (p.Glu192=)
17	g.80105778G>T	CA401362143	GAA	c.576G>T (p.Glu192Asp)	gnomAD v4
17	g.80105779G>A	CA401362145	GAA	c.577G>A (p.Val193Met)
17	g.80105779G>C	CA401362148	GAA	c.577G>C (p.Val193Leu)
17	g.80105779G>T	CA401362147	GAA	c.577G>T (p.Val193Leu)	gnomAD v4
17	g.80105780T>A	CA401362150	GAA	c.578T>A (p.Val193Glu)
17	g.80105780T>C	CA401362152	GAA	c.578T>C (p.Val193Ala)
17	g.80105780T>G	CA401362154	GAA	c.578T>G (p.Val193Gly)
17	g.80105781G>A	CA502177515	GAA	c.579G>A (p.Val193=)	ClinVar dbSNP
17	g.80105781G>C	CA8814934	GAA	c.579G>C (p.Val193=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105781G=	CA2277811233	GAA	c.579G= (p.Val193=)
17	g.80105781G>T	CA502177517	GAA	c.579G>T (p.Val193=)	gnomAD v4
17	g.80105781dup	CA2576660839	GAA	c.579dup (p.Pro194AlafsTer?)
17	g.80105782C>A	CA401362156	GAA	c.580C>A (p.Pro194Thr)
17	g.80105782C>G	CA401362158	GAA	c.580C>G (p.Pro194Ala)
17	g.80105782C>T	CA401362160	GAA	c.580C>T (p.Pro194Ser)	gnomAD v4
17	g.80105783C>A	CA401362161	GAA	c.581C>A (p.Pro194His)	gnomAD v4

Number of alleles fetched