Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104734_80107789del	CA658795223	GAA	c.148_859-11del	ClinVar
17	g.80105857G>A	CA274334	GAA	c.655G>A (p.Gly219Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105857G>C	CA401362459	GAA	c.655G>C (p.Gly219Arg)
17	g.80105857G=	CA2277811277	GAA	c.655G= (p.Gly219=)
17	g.80105857G>T	CA401362461	GAA	c.655G>T (p.Gly219Trp)	gnomAD v4
17	g.80105860dup	CA2573154934	GAA	c.658dup (p.Val220GlyfsTer?)	ClinVar dbSNP
17	g.80105858G>A	CA401362463	GAA	c.656G>A (p.Gly219Glu)	ClinVar
17	g.80105858G>C	CA401362465	GAA	c.656G>C (p.Gly219Ala)
17	g.80105858G>T	CA401362467	GAA	c.656G>T (p.Gly219Val)	gnomAD v4
17	g.80105859G>A	CA502177647	GAA	c.657G>A (p.Gly219=)	ClinVar dbSNP
17	g.80105859G>C	CA502177648	GAA	c.657G>C (p.Gly219=)
17	g.80105859G=	CA2277811278	GAA	c.657G= (p.Gly219=)
17	g.80105859G>T	CA502177649	GAA	c.657G>T (p.Gly219=)	gnomAD v4
17	g.80105860G>A	CA401362469	GAA	c.658G>A (p.Val220Met)	gnomAD v4
17	g.80105860G>C	CA401362471	GAA	c.658G>C (p.Val220Leu)
17	g.80105860G=	CA2277811279	GAA	c.658G= (p.Val220=)
17	g.80105860G>T	CA8814955	GAA	c.658G>T (p.Val220Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105861T>A	CA401362473	GAA	c.659T>A (p.Val220Glu)	dbSNP gnomAD v2
17	g.80105861T>C	CA401362475	GAA	c.659T>C (p.Val220Ala)
17	g.80105861T>G	CA401362477	GAA	c.659T>G (p.Val220Gly)	dbSNP
17	g.80105861T=	CA2277811280	GAA	c.659T= (p.Val220=)
17	g.80105862G>A	CA502177650	GAA	c.660G>A (p.Val220=)	COSMIC
17	g.80105862G>C	CA502177651	GAA	c.660G>C (p.Val220=)	gnomAD v4
17	g.80105862G>T	CA502177652	GAA	c.660G>T (p.Val220=)	gnomAD v4
17	g.80105863A=	CA2277811281	GAA	c.661A= (p.Ile221=)
17	g.80105863A>C	CA401362479	GAA	c.661A>C (p.Ile221Leu)
17	g.80105863A>G	CA401362481	GAA	c.661A>G (p.Ile221Val)
17	g.80105863A>T	CA401362483	GAA	c.661A>T (p.Ile221Phe)	dbSNP gnomAD v4
17	g.80105864T>A	CA401362487	GAA	c.662T>A (p.Ile221Asn)
17	g.80105864T>C	CA401362489	GAA	c.662T>C (p.Ile221Thr)
17	g.80105864T>G	CA401362485	GAA	c.662T>G (p.Ile221Ser)
17	g.80105865C>A	CA502177653	GAA	c.663C>A (p.Ile221=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105865C=	CA2277811282	GAA	c.663C= (p.Ile221=)
17	g.80105865C>G	CA401362492	GAA	c.663C>G (p.Ile221Met)	ClinVar dbSNP gnomAD v4
17	g.80105865C>T	CA8814956	GAA	c.663C>T (p.Ile221=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105866del	CA2810576337	GAA	c.664del (p.Val222CysfsTer11)
17	g.80105866G>A	CA8814957	GAA	c.664G>A (p.Val222Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105866G>C	CA401362495	GAA	c.664G>C (p.Val222Leu)
17	g.80105866G=	CA2277811283	GAA	c.664G= (p.Val222=)
17	g.80105866G>T	CA401362498	GAA	c.664G>T (p.Val222Leu)
17	g.80105867T>A	CA401362499	GAA	c.665T>A (p.Val222Glu)
17	g.80105867T>C	CA401362501	GAA	c.665T>C (p.Val222Ala)
17	g.80105867T>G	CA401362502	GAA	c.665T>G (p.Val222Gly)	dbSNP gnomAD v4
17	g.80105867T=	CA2277811284	GAA	c.665T= (p.Val222=)
17	g.80105868G>A	CA502177654	GAA	c.666G>A (p.Val222=)	ClinVar gnomAD v4
17	g.80105868G>C	CA502177655	GAA	c.666G>C (p.Val222=)
17	g.80105868G>T	CA502177656	GAA	c.666G>T (p.Val222=)	gnomAD v4
17	g.80105869C>A	CA401362504	GAA	c.667C>A (p.Arg223Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.80105869C=	CA2277811285	GAA	c.667C= (p.Arg223=)
17	g.80105869C>G	CA401362506	GAA	c.667C>G (p.Arg223Gly)

Number of alleles fetched