Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80108679_80116948del	CA913184754	GAA	c.1195-18_2190-20del c.1195-18_*328-20del
17	g.80108678_80116951del	CA658795244	GAA	c.1195-19_2190-17del c.1195-19_*328-17del	ClinVar
17	g.80110028_80110030delinsCGA	CA2277813654	GAA	c.1410_1412delinsCGA (p.Asn470=)
17	g.80110028_80110032delinsCGAGA	CA2277813656	GAA	c.1410_1414delinsCGAGA (p.Asn470=)
17	g.80110029G>A	CA8815311	GAA	c.1411G>A (p.Glu471Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110029G>C	CA401366571	GAA	c.1411G>C (p.Glu471Gln)
17	g.80110029G=	CA2277813657	GAA	c.1411G= (p.Glu471=)
17	g.80110029G>T	CA401366574	GAA	c.1411G>T (p.Glu471Ter)
17	g.80110029_80110032del	CA274067	GAA	c.1411_1414del (p.Glu471ProfsTer5)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110031_80110032del	CA919905445	GAA	c.1413_1414del (p.Glu471AspfsTer?)	dbSNP
17	g.80110030A>C	CA401366575	GAA	c.1412A>C (p.Glu471Ala)
17	g.80110030A>G	CA401366577	GAA	c.1412A>G (p.Glu471Gly)
17	g.80110030A>T	CA401366579	GAA	c.1412A>T (p.Glu471Val)
17	g.80110031G>A	CA502178445	GAA	c.1413G>A (p.Glu471=)
17	g.80110031G>C	CA401366581	GAA	c.1413G>C (p.Glu471Asp)
17	g.80110031G=	CA2277813658	GAA	c.1413G= (p.Glu471=)
17	g.80110031G>T	CA401366582	GAA	c.1413G>T (p.Glu471Asp)	dbSNP
17	g.80110032A=	CA2277813659	GAA	c.1414A= (p.Thr472=)
17	g.80110032A>C	CA401366585	GAA	c.1414A>C (p.Thr472Pro)	dbSNP
17	g.80110032A>G	CA401366588	GAA	c.1414A>G (p.Thr472Ala)
17	g.80110032A>T	CA401366587	GAA	c.1414A>T (p.Thr472Ser)
17	g.80110033C>A	CA401366589	GAA	c.1415C>A (p.Thr472Asn)	COSMIC
17	g.80110033C=	CA2277813660	GAA	c.1415C= (p.Thr472=)
17	g.80110033C>G	CA401366591	GAA	c.1415C>G (p.Thr472Ser)	dbSNP
17	g.80110033C>T	CA401366592	GAA	c.1415C>T (p.Thr472Ile)
17	g.80110034dup	CA2695227090	GAA	c.1416dup (p.Gly473ArgfsTer?)
17	g.80110035_80110038del	CA2739268475	GAA	c.1417_1420del (p.Gly473SerfsTer3)	ClinVar
17	g.80110034C>A	CA502178447	GAA	c.1416C>A (p.Thr472=)	ClinVar dbSNP
17	g.80110034C=	CA2277813661	GAA	c.1416C= (p.Thr472=)
17	g.80110034C>G	CA502178448	GAA	c.1416C>G (p.Thr472=)	ClinVar dbSNP gnomAD v4
17	g.80110034C>T	CA8815312	GAA	c.1416C>T (p.Thr472=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80110035G>A	CA8815313	GAA	c.1417G>A (p.Gly473Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110035G>C	CA294894092	GAA	c.1417G>C (p.Gly473Arg)	dbSNP gnomAD v3 gnomAD v4
17	g.80110035G=	CA2277813662	GAA	c.1417G= (p.Gly473=)
17	g.80110035G>T	CA401366597	GAA	c.1417G>T (p.Gly473Cys)	dbSNP gnomAD v2 gnomAD v4
17	g.80110036G>A	CA401366599	GAA	c.1418G>A (p.Gly473Asp)	ClinVar dbSNP
17	g.80110036G>C	CA10606183	GAA	c.1418G>C (p.Gly473Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80110036G=	CA2277813663	GAA	c.1418G= (p.Gly473=)
17	g.80110036G>T	CA401366602	GAA	c.1418G>T (p.Gly473Val)
17	g.80110037C>A	CA502178449	GAA	c.1419C>A (p.Gly473=)
17	g.80110037C=	CA2277813664	GAA	c.1419C= (p.Gly473=)
17	g.80110037C>G	CA502178450	GAA	c.1419C>G (p.Gly473=)	dbSNP gnomAD v3 gnomAD v4
17	g.80110037C>T	CA502178451	GAA	c.1419C>T (p.Gly473=)
17	g.80110038C>A	CA401366608	GAA	c.1420C>A (p.Gln474Lys)
17	g.80110038C>G	CA401366606	GAA	c.1420C>G (p.Gln474Glu)
17	g.80110038C>T	CA401366604	GAA	c.1420C>T (p.Gln474Ter)
17	g.80110039A=	CA2277813665	GAA	c.1421A= (p.Gln474=)
17	g.80110039A>C	CA401366609	GAA	c.1421A>C (p.Gln474Pro)
17	g.80110039A>G	CA401366610	GAA	c.1421A>G (p.Gln474Arg)	gnomAD v4
17	g.80110039A>T	CA294894100	GAA	c.1421A>T (p.Gln474Leu)	dbSNP

Number of alleles fetched