Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104734_80107789del	CA658795223	GAA	c.148_859-11del	ClinVar
17	g.80104950_80104951delinsAT	CA2277810739	GAA	c.364_365delinsAT (p.Met122=)
17	g.80104951del	CA274330	GAA	c.365del (p.Met122ArgfsTer20)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80104951T>A	CA401360903	GAA	c.365T>A (p.Met122Lys)
17	g.80104951T>C	CA401360906	GAA	c.365T>C (p.Met122Thr)	gnomAD v4
17	g.80104951T>G	CA8814858	GAA	c.365T>G (p.Met122Arg)	dbSNP ExAC gnomAD v4
17	g.80104951T=	CA2277810741	GAA	c.365T= (p.Met122=)
17	g.80104952G>A	CA401360909	GAA	c.366G>A (p.Met122Ile)
17	g.80104952G>C	CA401360911	GAA	c.366G>C (p.Met122Ile)
17	g.80104952G>T	CA401360913	GAA	c.366G>T (p.Met122Ile)
17	g.80104953G>A	CA401360915	GAA	c.367G>A (p.Gly123Arg)	dbSNP gnomAD v2
17	g.80104953G>C	CA401360919	GAA	c.367G>C (p.Gly123Arg)
17	g.80104953G=	CA2277810742	GAA	c.367G= (p.Gly123=)
17	g.80104953G>T	CA401360917	GAA	c.367G>T (p.Gly123Trp)
17	g.80104954G>A	CA8814859	GAA	c.368G>A (p.Gly123Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104954G>C	CA401360922	GAA	c.368G>C (p.Gly123Ala)
17	g.80104954G=	CA2277810743	GAA	c.368G= (p.Gly123=)
17	g.80104954G>T	CA401360924	GAA	c.368G>T (p.Gly123Val)	ClinVar dbSNP
17	g.80104955G>A	CA8814860	GAA	c.369G>A (p.Gly123=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104955G>C	CA502402256	GAA	c.369G>C (p.Gly123=)
17	g.80104955G=	CA2277810744	GAA	c.369G= (p.Gly123=)
17	g.80104955G>T	CA502402257	GAA	c.369G>T (p.Gly123=)
17	g.80104957_80104967del	CA2695200347	GAA	c.371_381del (p.Gln124LeufsTer18)	ClinVar
17	g.80104956C>A	CA401360928	GAA	c.370C>A (p.Gln124Lys)	dbSNP
17	g.80104956C=	CA2277810745	GAA	c.370C= (p.Gln124=)
17	g.80104956C>G	CA401360930	GAA	c.370C>G (p.Gln124Glu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104956C>T	CA401360932	GAA	c.370C>T (p.Gln124Ter)
17	g.80104957A>C	CA401360934	GAA	c.371A>C (p.Gln124Pro)
17	g.80104957A>G	CA401360935	GAA	c.371A>G (p.Gln124Arg)
17	g.80104957A>T	CA401360937	GAA	c.371A>T (p.Gln124Leu)
17	g.80104958G>A	CA294887185	GAA	c.372G>A (p.Gln124=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104958G>C	CA401360938	GAA	c.372G>C (p.Gln124His)
17	g.80104958G=	CA2277810746	GAA	c.372G= (p.Gln124=)
17	g.80104958G>T	CA401360940	GAA	c.372G>T (p.Gln124His)
17	g.80104959C>A	CA401360944	GAA	c.373C>A (p.Pro125Thr)
17	g.80104959C>G	CA401360941	GAA	c.373C>G (p.Pro125Ala)
17	g.80104959C>T	CA401360942	GAA	c.373C>T (p.Pro125Ser)	gnomAD v4
17	g.80104959_80104962delinsCCCT	CA2277810747	GAA	c.373_376delinsCCCT (p.Pro125=)
17	g.80104960C>A	CA401360945	GAA	c.374C>A (p.Pro125His)
17	g.80104960C>G	CA401360947	GAA	c.374C>G (p.Pro125Arg)
17	g.80104960C>T	CA401360949	GAA	c.374C>T (p.Pro125Leu)	gnomAD v4
17	g.80104960_80104962del	CA775508596	GAA	c.374_376del (p.Pro125_Trp126delinsArg)	dbSNP
17	g.80104961C>A	CA502402258	GAA	c.375C>A (p.Pro125=)
17	g.80104961C>G	CA502402260	GAA	c.375C>G (p.Pro125=)
17	g.80104961C>T	CA502402259	GAA	c.375C>T (p.Pro125=)	COSMIC
17	g.80104961_80104962del	CA913014078	GAA	c.375_376del (p.Trp126ValfsTer19)
17	g.80104961_80104962delinsCT	CA2277810748	GAA	c.375_376delinsCT (p.Pro125=)
17	g.80104962del	CA658824773	GAA	c.376del (p.Trp126GlyfsTer16)	ClinVar dbSNP
17	g.80104962T>A	CA401360951	GAA	c.376T>A (p.Trp126Arg)
17	g.80104962T>C	CA401360953	GAA	c.376T>C (p.Trp126Arg)	dbSNP gnomAD v2

Number of alleles fetched