Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80108290_80108296del	CA2695227072	GAA	c.956_962del (p.Asp319AlafsTer?)
17	g.80108296T>A	CA401364386	GAA	c.962T>A (p.Val321Asp)
17	g.80108296T>C	CA401364384	GAA	c.962T>C (p.Val321Ala)	dbSNP gnomAD v4
17	g.80108296T>G	CA401364385	GAA	c.962T>G (p.Val321Gly)
17	g.80108296T=	CA2277812656	GAA	c.962T= (p.Val321=)
17	g.80108297C>A	CA502178179	GAA	c.963C>A (p.Val321=)
17	g.80108297C>G	CA502178180	GAA	c.963C>G (p.Val321=)
17	g.80108297C>T	CA502178182	GAA	c.963C>T (p.Val321=)
17	g.80108298C>A	CA401364388	GAA	c.964C>A (p.Leu322Met)
17	g.80108298C=	CA2277812657	GAA	c.964C= (p.Leu322=)
17	g.80108298C>G	CA401364390	GAA	c.964C>G (p.Leu322Val)	gnomAD v4
17	g.80108298C>T	CA502178184	GAA	c.964C>T (p.Leu322=)	dbSNP
17	g.80108299T>A	CA401364392	GAA	c.965T>A (p.Leu322Gln)
17	g.80108299T>C	CA401364394	GAA	c.965T>C (p.Leu322Pro)
17	g.80108299T>G	CA401364396	GAA	c.965T>G (p.Leu322Arg)
17	g.80108300G>A	CA502178190	GAA	c.966G>A (p.Leu322=)	ClinVar dbSNP gnomAD v2
17	g.80108300G>C	CA502178191	GAA	c.966G>C (p.Leu322=)
17	g.80108300G=	CA2277812658	GAA	c.966G= (p.Leu322=)
17	g.80108300G>T	CA502178193	GAA	c.966G>T (p.Leu322=)
17	g.80108301C>A	CA401364401	GAA	c.967C>A (p.Gln323Lys)
17	g.80108301C>G	CA401364398	GAA	c.967C>G (p.Gln323Glu)
17	g.80108301C>T	CA401364399	GAA	c.967C>T (p.Gln323Ter)	ClinVar
17	g.80108302A>C	CA401364403	GAA	c.968A>C (p.Gln323Pro)
17	g.80108302A>G	CA401364405	GAA	c.968A>G (p.Gln323Arg)
17	g.80108302A>T	CA401364406	GAA	c.968A>T (p.Gln323Leu)
17	g.80108303G>A	CA502178194	GAA	c.969G>A (p.Gln323=)	dbSNP gnomAD v2 gnomAD v4
17	g.80108303G>C	CA401364409	GAA	c.969G>C (p.Gln323His)	gnomAD v4
17	g.80108303G=	CA2277812659	GAA	c.969G= (p.Gln323=)
17	g.80108303G>T	CA401364411	GAA	c.969G>T (p.Gln323His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108304C>A	CA401364412	GAA	c.970C>A (p.Pro324Thr)
17	g.80108304C>G	CA401364414	GAA	c.970C>G (p.Pro324Ala)
17	g.80108304C>T	CA401364416	GAA	c.970C>T (p.Pro324Ser)	gnomAD v4
17	g.80108305dup	CA1585329339	GAA	c.971dup (p.Ser325GlufsTer5)	ClinVar dbSNP
17	g.80108305C>A	CA8815118	GAA	c.971C>A (p.Pro324Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108305C=	CA2277812660	GAA	c.971C= (p.Pro324=)
17	g.80108305C>G	CA8815120	GAA	c.971C>G (p.Pro324Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108305C>T	CA8815119	GAA	c.971C>T (p.Pro324Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108306G>A	CA8815121	GAA	c.972G>A (p.Pro324=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108306G>C	CA502178196	GAA	c.972G>C (p.Pro324=)	ClinVar dbSNP
17	g.80108306G=	CA2277812661	GAA	c.972G= (p.Pro324=)
17	g.80108306G>T	CA502178197	GAA	c.972G>T (p.Pro324=)	gnomAD v4
17	g.80108307A>C	CA401364421	GAA	c.973A>C (p.Ser325Arg)
17	g.80108307A>G	CA401364426	GAA	c.973A>G (p.Ser325Gly)
17	g.80108307A>T	CA401364424	GAA	c.973A>T (p.Ser325Cys)
17	g.80108308G>A	CA294891758	GAA	c.974G>A (p.Ser325Asn)	ClinVar dbSNP gnomAD v4
17	g.80108308G>C	CA401364431	GAA	c.974G>C (p.Ser325Thr)
17	g.80108308G=	CA2277812662	GAA	c.974G= (p.Ser325=)
17	g.80108308G>T	CA401364433	GAA	c.974G>T (p.Ser325Ile)
17	g.80108309C>A	CA401364435	GAA	c.975C>A (p.Ser325Arg)
17	g.80108309C>G	CA401364437	GAA	c.975C>G (p.Ser325Arg)

Number of alleles fetched