Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80108264C>A	CA2576414011	GAA	c.956-26C>A (n.956-26C>A)
17	g.80108264C>G	CA2640285480	GAA	c.956-26C>G (n.956-26C>G)	gnomAD v4
17	g.80108265A>G	CA2576414012	GAA	c.956-25A>G (n.956-25A>G)	gnomAD v4
17	g.80108266A=	CA2277812638	GAA	c.956-24A= (n.956-24A=)
17	g.80108266A>G	CA775511954	GAA	c.956-24A>G (n.956-24A>G)	dbSNP gnomAD v3 gnomAD v4
17	g.80108267C>A	CA2640285482	GAA	c.956-23C>A (n.956-23C>A)	gnomAD v4
17	g.80108267C=	CA2277812639	GAA	c.956-23C= (n.956-23C=)
17	g.80108267C>T	CA775511955	GAA	c.956-23C>T (n.956-23C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.80108269_80108280delinsCCAGAGCTGCTT	CA2277812640	GAA	c.956-21_956-10delinsCCAGAGCTGCTT (n.956-21_956-10delinsCCAGAGCTGCTT)
17	g.80108270C>T	CA2640285483	GAA	c.956-20C>T (n.956-20C>T)	gnomAD v4
17	g.80108271_80108281del	CA2277812641	GAA	c.956-19_956-9del (n.956-19_956-9del)	dbSNP
17	g.80108272G>C	CA2640285486	GAA	c.956-18G>C (n.956-18G>C)	gnomAD v4
17	g.80108273A=	CA2277812642	GAA	c.956-17A= (n.956-17A=)
17	g.80108273A>T	CA2277812643	GAA	c.956-17A>T (n.956-17A>T)	ClinVar dbSNP gnomAD v4
17	g.80108276T>A	CA2640285488	GAA	c.956-14T>A (n.956-14T>A)	gnomAD v4
17	g.80108276T>G	CA2640285489	GAA	c.956-14T>G (n.956-14T>G)	gnomAD v4
17	g.80108277G>T	CA2697555242	GAA	c.956-13G>T (n.956-13G>T)	ClinVar
17	g.80108278C=	CA2277812644	GAA	c.956-12C= (n.956-12C=)
17	g.80108278C>T	CA8815117	GAA	c.956-12C>T (n.956-12C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108279T>C	CA2573154948	GAA	c.956-11T>C (n.956-11T>C)	ClinVar dbSNP gnomAD v4
17	g.80108281C>T	CA2576414013	GAA	c.956-9C>T (n.956-9C>T)
17	g.80108282C>A	CA294891689	GAA	c.956-8C>A (n.956-8C>A)	ClinVar dbSNP
17	g.80108282C=	CA2277812645	GAA	c.956-8C= (n.956-8C=)
17	g.80108282C>T	CA2573154949	GAA	c.956-8C>T (n.956-8C>T)	ClinVar dbSNP
17	g.80108283C=	CA2277812646	GAA	c.956-7C= (n.956-7C=)
17	g.80108283C>G	CA986705609	GAA	c.956-7C>G (n.956-7C>G)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80108283C>T	CA2277812648	GAA	c.956-7C>T (n.956-7C>T)	dbSNP
17	g.80108283_80108290delinsCTTCCAGA	CA2277812647	GAA	c.956-7_956delinsCTTCCAGA
17	g.80108285_80108291del	CA2277812649	GAA	c.956-5_957del	ClinVar dbSNP
17	g.80108285_80108286delinsTC	CA2277812650	GAA	c.956-5_956-4delinsTC (n.956-5_956-4delinsTC)
17	g.80108286C>T	CA2573154950	GAA	c.956-4C>T (n.956-4C>T)	ClinVar dbSNP gnomAD v4
17	g.80108287del	CA2277812651	GAA	c.956-3del (n.956-3del)	dbSNP
17	g.80108287C=	CA2277812652	GAA	c.956-3C= (n.956-3C=)
17	g.80108287C>T	CA627699086	GAA	c.956-3C>T (n.956-3C>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80108288A=	CA2277812653	GAA	c.956-2A= (n.956-2A=)
17	g.80108288A>C	CA401364349	GAA	c.956-2A>C (n.956-2A>C)
17	g.80108288A>G	CA401364351	GAA	c.956-2A>G (n.956-2A>G)	dbSNP gnomAD v3 gnomAD v4
17	g.80108288A>T	CA401364353	GAA	c.956-2A>T (n.956-2A>T)
17	g.80108289G>A	CA401364356	GAA	c.956-1G>A (n.956-1G>A)
17	g.80108289G>C	CA401364358	GAA	c.956-1G>C (n.956-1G>C)
17	g.80108289G>T	CA401364360	GAA	c.956-1G>T (n.956-1G>T)
17	g.80108290A>C	CA401364362	GAA	c.956A>C (p.Asp319Ala)
17	g.80108290A>G	CA401364363	GAA	c.956A>G (p.Asp319Gly)	ClinVar gnomAD v4
17	g.80108290A>T	CA401364365	GAA	c.956A>T (p.Asp319Val)	gnomAD v4
17	g.80108290_80108296del	CA2695227072	GAA	c.956_962del (p.Asp319AlafsTer?)
17	g.80108291T>A	CA401364367	GAA	c.957T>A (p.Asp319Glu)
17	g.80108291T>C	CA502178163	GAA	c.957T>C (p.Asp319=)	gnomAD v4
17	g.80108291T>G	CA401364369	GAA	c.957T>G (p.Asp319Glu)
17	g.80108292del	CA2640285516	GAA	c.958del (p.Val320TrpfsTer?)	gnomAD v4
17	g.80108292G>A	CA294891694	GAA	c.958G>A (p.Val320Met)	dbSNP
17	g.80108292G>C	CA401364373	GAA	c.958G>C (p.Val320Leu)
17	g.80108292G=	CA2277812654	GAA	c.958G= (p.Val320=)
17	g.80108292G>T	CA401364371	GAA	c.958G>T (p.Val320Leu)
17	g.80108292_80108293delinsAG	CA2580095299	GAA	c.958_959delinsAG (p.Val320Arg)	ClinVar
17	g.80108293T>A	CA401364374	GAA	c.959T>A (p.Val320Glu)
17	g.80108293T>C	CA401364376	GAA	c.959T>C (p.Val320Ala)
17	g.80108293T>G	CA401364378	GAA	c.959T>G (p.Val320Gly)
17	g.80108294G>A	CA502178170	GAA	c.960G>A (p.Val320=)	ClinVar dbSNP
17	g.80108294G>C	CA502178171	GAA	c.960G>C (p.Val320=)
17	g.80108294G>T	CA502178173	GAA	c.960G>T (p.Val320=)
17	g.80108295G>A	CA294891725	GAA	c.961G>A (p.Val321Ile)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80108295G>C	CA401364380	GAA	c.961G>C (p.Val321Leu)
17	g.80108295G=	CA2277812655	GAA	c.961G= (p.Val321=)
17	g.80108295G>T	CA401364382	GAA	c.961G>T (p.Val321Phe)	ClinVar dbSNP gnomAD v4
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)
17	g.80108309C>T	CA502178205	GAA	c.975C>T (p.Ser325=)
17	g.80108310C>A	CA401364439	GAA	c.976C>A (p.Pro326Thr)
17	g.80108310C=	CA2277812663	GAA	c.976C= (p.Pro326=)
17	g.80108310C>G	CA401364440	GAA	c.976C>G (p.Pro326Ala)
17	g.80108310C>T	CA401364442	GAA	c.976C>T (p.Pro326Ser)	ClinVar dbSNP
17	g.80108311C>A	CA401364444	GAA	c.977C>A (p.Pro326His)
17	g.80108311C>G	CA401364446	GAA	c.977C>G (p.Pro326Arg)
17	g.80108311C>T	CA401364447	GAA	c.977C>T (p.Pro326Leu)
17	g.80108312T>A	CA502178212	GAA	c.978T>A (p.Pro326=)
17	g.80108312T>C	CA502178214	GAA	c.978T>C (p.Pro326=)
17	g.80108312T>G	CA502178216	GAA	c.978T>G (p.Pro326=)
17	g.80108313G>A	CA8815122	GAA	c.979G>A (p.Ala327Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108313G>C	CA401364449	GAA	c.979G>C (p.Ala327Pro)	gnomAD v4
17	g.80108313G=	CA2277812664	GAA	c.979G= (p.Ala327=)
17	g.80108313G>T	CA401364448	GAA	c.979G>T (p.Ala327Ser)	gnomAD v4
17	g.80108314C>A	CA401364453	GAA	c.980C>A (p.Ala327Asp)
17	g.80108314C=	CA2277812665	GAA	c.980C= (p.Ala327=)
17	g.80108314C>G	CA401364455	GAA	c.980C>G (p.Ala327Gly)	dbSNP
17	g.80108314C>T	CA401364457	GAA	c.980C>T (p.Ala327Val)
17	g.80108316del	CA2695227073	GAA	c.982del (p.Ser329AlafsTer?)
17	g.80108315C>A	CA502178221	GAA	c.981C>A (p.Ala327=)
17	g.80108315C>G	CA502178223	GAA	c.981C>G (p.Ala327=)
17	g.80108315C>T	CA502178225	GAA	c.981C>T (p.Ala327=)
17	g.80108316C>A	CA401364459	GAA	c.982C>A (p.Leu328Ile)
17	g.80108316C=	CA2277812666	GAA	c.982C= (p.Leu328=)
17	g.80108316C>G	CA401364461	GAA	c.982C>G (p.Leu328Val)
17	g.80108316C>T	CA401364463	GAA	c.982C>T (p.Leu328Phe)	ClinVar dbSNP
17	g.80108316_80108322del	CA2695227074	GAA	c.982_988del (p.Leu328GlyfsTer?)
17	g.80108317T>A	CA401364464	GAA	c.983T>A (p.Leu328His)
17	g.80108317T>C	CA401364466	GAA	c.983T>C (p.Leu328Pro)
17	g.80108317T>G	CA401364468	GAA	c.983T>G (p.Leu328Arg)	gnomAD v4
17	g.80108318T>A	CA502178231	GAA	c.984T>A (p.Leu328=)
17	g.80108318T>C	CA502178233	GAA	c.984T>C (p.Leu328=)
17	g.80108318T>G	CA502178234	GAA	c.984T>G (p.Leu328=)
17	g.80108319del	CA2576414014	GAA	c.985del (p.Ser329AlafsTer?)
17	g.80108319A>C	CA401364471	GAA	c.985A>C (p.Ser329Arg)
17	g.80108319A>G	CA401364473	GAA	c.985A>G (p.Ser329Gly)
17	g.80108319A>T	CA401364475	GAA	c.985A>T (p.Ser329Cys)
17	g.80108320G>A	CA401364479	GAA	c.986G>A (p.Ser329Asn)
17	g.80108320G>C	CA401364478	GAA	c.986G>C (p.Ser329Thr)
17	g.80108320G>T	CA401364476	GAA	c.986G>T (p.Ser329Ile)
17	g.80108321C>A	CA401364480	GAA	c.987C>A (p.Ser329Arg)
17	g.80108321C=	CA2277812667	GAA	c.987C= (p.Ser329=)
17	g.80108321C>G	CA401364482	GAA	c.987C>G (p.Ser329Arg)	gnomAD v4
17	g.80108321C>T	CA8815123	GAA	c.987C>T (p.Ser329=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108322_80108332del	CA2697555243	GAA	c.988_998del (p.Trp330ArgfsTer?)	ClinVar
17	g.80108322T>A	CA401364483	GAA	c.988T>A (p.Trp330Arg)
17	g.80108322T>C	CA401364485	GAA	c.988T>C (p.Trp330Arg)
17	g.80108322T>G	CA401364484	GAA	c.988T>G (p.Trp330Gly)
17	g.80108323G>A	CA401364487	GAA	c.989G>A (p.Trp330Ter)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80108323G>C	CA401364489	GAA	c.989G>C (p.Trp330Ser)
17	g.80108323G=	CA2277812668	GAA	c.989G= (p.Trp330=)
17	g.80108323G>T	CA401364491	GAA	c.989G>T (p.Trp330Leu)
17	g.80108324G>A	CA401364492	GAA	c.990G>A (p.Trp330Ter)
17	g.80108324G>C	CA401364494	GAA	c.990G>C (p.Trp330Cys)	ClinVar
17	g.80108324G>T	CA401364495	GAA	c.990G>T (p.Trp330Cys)
17	g.80108325A>C	CA502178250	GAA	c.991A>C (p.Arg331=)
17	g.80108325A>G	CA401364497	GAA	c.991A>G (p.Arg331Gly)
17	g.80108325A>T	CA401364498	GAA	c.991A>T (p.Arg331Trp)
17	g.80108326G>A	CA401364500	GAA	c.992G>A (p.Arg331Lys)
17	g.80108326G>C	CA401364502	GAA	c.992G>C (p.Arg331Thr)
17	g.80108326G>T	CA401364503	GAA	c.992G>T (p.Arg331Met)
17	g.80108327G>A	CA8815124	GAA	c.993G>A (p.Arg331=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108327G>C	CA401364505	GAA	c.993G>C (p.Arg331Ser)
17	g.80108327G=	CA2277812669	GAA	c.993G= (p.Arg331=)
17	g.80108327G>T	CA401364507	GAA	c.993G>T (p.Arg331Ser)	gnomAD v4
17	g.80108328T>A	CA401364511	GAA	c.994T>A (p.Ser332Thr)
17	g.80108328T>C	CA401364512	GAA	c.994T>C (p.Ser332Pro)
17	g.80108328T>G	CA401364514	GAA	c.994T>G (p.Ser332Ala)
17	g.80108328_80108329insTT	CA919905421	GAA	c.994_995insTT (p.Ser332PhefsTer?)	dbSNP
17	g.80108329C>A	CA401364516	GAA	c.995C>A (p.Ser332Ter)	ClinVar dbSNP
17	g.80108329C=	CA2277812670	GAA	c.995C= (p.Ser332=)
17	g.80108329C>G	CA401364518	GAA	c.995C>G (p.Ser332Trp)
17	g.80108329C>T	CA8815125	GAA	c.995C>T (p.Ser332Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108330G>A	CA8815126	GAA	c.996G>A (p.Ser332=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.80108330G>C	CA502178262	GAA	c.996G>C (p.Ser332=)
17	g.80108330G=	CA2277812671	GAA	c.996G= (p.Ser332=)
17	g.80108330G>T	CA502178260	GAA	c.996G>T (p.Ser332=)	ClinVar dbSNP gnomAD v4
17	g.80108331A>C	CA401364522	GAA	c.997A>C (p.Thr333Pro)
17	g.80108331A>G	CA401364523	GAA	c.997A>G (p.Thr333Ala)
17	g.80108331A>T	CA401364525	GAA	c.997A>T (p.Thr333Ser)
17	g.80108332C>A	CA401364529	GAA	c.998C>A (p.Thr333Lys)	gnomAD v4
17	g.80108332C>G	CA401364530	GAA	c.998C>G (p.Thr333Arg)	gnomAD v4
17	g.80108332C>T	CA401364527	GAA	c.998C>T (p.Thr333Ile)
17	g.80108333A=	CA2277812672	GAA	c.999A= (p.Thr333=)
17	g.80108333A>C	CA502178268	GAA	c.999A>C (p.Thr333=)
17	g.80108333A>G	CA502178270	GAA	c.999A>G (p.Thr333=)	ClinVar dbSNP gnomAD v4
17	g.80108333A>T	CA502178272	GAA	c.999A>T (p.Thr333=)
17	g.80108334G>A	CA401364531	GAA	c.1000G>A (p.Gly334Ser)	ClinVar dbSNP
17	g.80108334G>C	CA401364533	GAA	c.1000G>C (p.Gly334Arg)
17	g.80108334G=	CA2277812673	GAA	c.1000G= (p.Gly334=)
17	g.80108334G>T	CA10604927	GAA	c.1000G>T (p.Gly334Cys)	ClinVar dbSNP gnomAD v4
17	g.80108335G>A	CA401364535	GAA	c.1001G>A (p.Gly334Asp)	ClinVar dbSNP COSMIC
17	g.80108335G>C	CA401364537	GAA	c.1001G>C (p.Gly334Ala)
17	g.80108335G=	CA2277812674	GAA	c.1001G= (p.Gly334=)
17	g.80108335G>T	CA401364539	GAA	c.1001G>T (p.Gly334Val)
17	g.80108336T>A	CA502178277	GAA	c.1002T>A (p.Gly334=)
17	g.80108336T>C	CA502178278	GAA	c.1002T>C (p.Gly334=)
17	g.80108336T>G	CA502178280	GAA	c.1002T>G (p.Gly334=)
17	g.80108337G>A	CA501005	GAA	c.1003G>A (p.Gly335Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108337G>C	CA401364542	GAA	c.1003G>C (p.Gly335Arg)
17	g.80108337G=	CA2277812675	GAA	c.1003G= (p.Gly335=)
17	g.80108337G>T	CA401364543	GAA	c.1003G>T (p.Gly335Trp)	ClinVar dbSNP
17	g.80108338_80108339dup	CA2695227075	GAA	c.1004_1005dup (p.Ile336GlyfsTer?)
17	g.80108338G>A	CA273683	GAA	c.1004G>A (p.Gly335Glu)	ClinVar dbSNP gnomAD v4
17	g.80108338G>C	CA401364545	GAA	c.1004G>C (p.Gly335Ala)
17	g.80108338G=	CA2277812676	GAA	c.1004G= (p.Gly335=)
17	g.80108338G>T	CA401364547	GAA	c.1004G>T (p.Gly335Val)
17	g.80108339G>A	CA502178284	GAA	c.1005G>A (p.Gly335=)	ClinVar dbSNP gnomAD v4
17	g.80108339G>C	CA502178285	GAA	c.1005G>C (p.Gly335=)	ClinVar
17	g.80108339G=	CA2277812677	GAA	c.1005G= (p.Gly335=)
17	g.80108339G>T	CA502178286	GAA	c.1005G>T (p.Gly335=)
17	g.80108340A>C	CA401364552	GAA	c.1006A>C (p.Ile336Leu)
17	g.80108340A>G	CA401364553	GAA	c.1006A>G (p.Ile336Val)
17	g.80108340A>T	CA401364550	GAA	c.1006A>T (p.Ile336Phe)
17	g.80108341T>A	CA8815127	GAA	c.1007T>A (p.Ile336Asn)	dbSNP ExAC gnomAD v2
17	g.80108341T>C	CA401364557	GAA	c.1007T>C (p.Ile336Thr)	ClinVar gnomAD v4
17	g.80108341T>G	CA401364558	GAA	c.1007T>G (p.Ile336Ser)
17	g.80108341T=	CA2277812678	GAA	c.1007T= (p.Ile336=)
17	g.80108342C>A	CA502178287	GAA	c.1008C>A (p.Ile336=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80108342C=	CA2277812679	GAA	c.1008C= (p.Ile336=)
17	g.80108342C>G	CA294891791	GAA	c.1008C>G (p.Ile336Met)	dbSNP gnomAD v3 gnomAD v4
17	g.80108342C>T	CA502178288	GAA	c.1008C>T (p.Ile336=)	ClinVar gnomAD v4
17	g.80108343C>A	CA401364562	GAA	c.1009C>A (p.Leu337Met)
17	g.80108343C=	CA2277812680	GAA	c.1009C= (p.Leu337=)
17	g.80108343C>G	CA401364563	GAA	c.1009C>G (p.Leu337Val)
17	g.80108343C>T	CA502178289	GAA	c.1009C>T (p.Leu337=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80108344T>A	CA401364567	GAA	c.1010T>A (p.Leu337Gln)
17	g.80108344T>C	CA401364570	GAA	c.1010T>C (p.Leu337Pro)
17	g.80108344T>G	CA401364568	GAA	c.1010T>G (p.Leu337Arg)
17	g.80108345G>A	CA8815128	GAA	c.1011G>A (p.Leu337=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108345G>C	CA502178290	GAA	c.1011G>C (p.Leu337=)
17	g.80108345G=	CA2277812681	GAA	c.1011G= (p.Leu337=)
17	g.80108345G>T	CA502178291	GAA	c.1011G>T (p.Leu337=)	ClinVar dbSNP
17	g.80108346G>A	CA401364572	GAA	c.1012G>A (p.Asp338Asn)
17	g.80108346G>C	CA401364573	GAA	c.1012G>C (p.Asp338His)
17	g.80108346G=	CA2277812682	GAA	c.1012G= (p.Asp338=)
17	g.80108346G>T	CA401364575	GAA	c.1012G>T (p.Asp338Tyr)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.80108347A=	CA2277812683	GAA	c.1013A= (p.Asp338=)
17	g.80108347A>C	CA401364580	GAA	c.1013A>C (p.Asp338Ala)	gnomAD v4
17	g.80108347A>G	CA294891797	GAA	c.1013A>G (p.Asp338Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108347A>T	CA401364577	GAA	c.1013A>T (p.Asp338Val)
17	g.80108348T>A	CA401364582	GAA	c.1014T>A (p.Asp338Glu)
17	g.80108348T>C	CA502178292	GAA	c.1014T>C (p.Asp338=)
17	g.80108348T>G	CA401364583	GAA	c.1014T>G (p.Asp338Glu)
17	g.80108349G>A	CA401364585	GAA	c.1015G>A (p.Val339Ile)
17	g.80108349G>C	CA401364588	GAA	c.1015G>C (p.Val339Leu)
17	g.80108349G>T	CA401364589	GAA	c.1015G>T (p.Val339Phe)	gnomAD v4
17	g.80108350T>A	CA401364590	GAA	c.1016T>A (p.Val339Asp)
17	g.80108350T>C	CA401364592	GAA	c.1016T>C (p.Val339Ala)
17	g.80108350T>G	CA401364594	GAA	c.1016T>G (p.Val339Gly)
17	g.80108351C>A	CA502178293	GAA	c.1017C>A (p.Val339=)
17	g.80108351C=	CA2277812684	GAA	c.1017C= (p.Val339=)
17	g.80108351C>G	CA502178294	GAA	c.1017C>G (p.Val339=)
17	g.80108351C>T	CA502178295	GAA	c.1017C>T (p.Val339=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80108352T>A	CA401364596	GAA	c.1018T>A (p.Tyr340Asn)
17	g.80108352T>C	CA401364598	GAA	c.1018T>C (p.Tyr340His)
17	g.80108352T>G	CA401364600	GAA	c.1018T>G (p.Tyr340Asp)
17	g.80108353A=	CA2277812685	GAA	c.1019A= (p.Tyr340=)
17	g.80108353A>C	CA401364603	GAA	c.1019A>C (p.Tyr340Ser)
17	g.80108353A>G	CA8815129	GAA	c.1019A>G (p.Tyr340Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108353A>T	CA401364606	GAA	c.1019A>T (p.Tyr340Phe)
17	g.80108354C>A	CA401364610	GAA	c.1020C>A (p.Tyr340Ter)
17	g.80108354C=	CA2277812686	GAA	c.1020C= (p.Tyr340=)
17	g.80108354C>G	CA401364608	GAA	c.1020C>G (p.Tyr340Ter)	ClinVar
17	g.80108354C>T	CA502178296	GAA	c.1020C>T (p.Tyr340=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80108355A=	CA2277812687	GAA	c.1021A= (p.Ile341=)
17	g.80108355A>C	CA401364612	GAA	c.1021A>C (p.Ile341Leu)
17	g.80108355A>G	CA8815130	GAA	c.1021A>G (p.Ile341Val)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108355A>T	CA401364614	GAA	c.1021A>T (p.Ile341Phe)
17	g.80108356T>A	CA401364617	GAA	c.1022T>A (p.Ile341Asn)
17	g.80108356T>C	CA401364618	GAA	c.1022T>C (p.Ile341Thr)
17	g.80108356T>G	CA401364620	GAA	c.1022T>G (p.Ile341Ser)
17	g.80108357C>A	CA502178297	GAA	c.1023C>A (p.Ile341=)	ClinVar gnomAD v4
17	g.80108357C>G	CA401364621	GAA	c.1023C>G (p.Ile341Met)
17	g.80108357C>T	CA502178298	GAA	c.1023C>T (p.Ile341=)	gnomAD v4
17	g.80108358T>A	CA401364623	GAA	c.1024T>A (p.Phe342Ile)
17	g.80108358T>C	CA401364625	GAA	c.1024T>C (p.Phe342Leu)	gnomAD v4
17	g.80108358T>G	CA401364627	GAA	c.1024T>G (p.Phe342Val)
17	g.80108359T>A	CA401364628	GAA	c.1025T>A (p.Phe342Tyr)
17	g.80108359T>C	CA401364630	GAA	c.1025T>C (p.Phe342Ser)
17	g.80108359T>G	CA401364632	GAA	c.1025T>G (p.Phe342Cys)
17	g.80108360C>A	CA401364636	GAA	c.1026C>A (p.Phe342Leu)
17	g.80108360C=	CA2277812688	GAA	c.1026C= (p.Phe342=)
17	g.80108360C>G	CA401364634	GAA	c.1026C>G (p.Phe342Leu)
17	g.80108360C>T	CA294891803	GAA	c.1026C>T (p.Phe342=)	ClinVar dbSNP gnomAD v4
17	g.80108361C>A	CA401364638	GAA	c.1027C>A (p.Leu343Met)
17	g.80108361C>G	CA401364640	GAA	c.1027C>G (p.Leu343Val)
17	g.80108361C>T	CA502178299	GAA	c.1027C>T (p.Leu343=)
17	g.80108362T>A	CA401364642	GAA	c.1028T>A (p.Leu343Gln)
17	g.80108362T>C	CA401364644	GAA	c.1028T>C (p.Leu343Pro)
17	g.80108362T>G	CA401364645	GAA	c.1028T>G (p.Leu343Arg)
17	g.80108362_80108364delinsTGG	CA2277812689	GAA	c.1028_1030delinsTGG (p.Leu343=)
17	g.80108363G>A	CA502178300	GAA	c.1029G>A (p.Leu343=)	gnomAD v4
17	g.80108363G>C	CA502178301	GAA	c.1029G>C (p.Leu343=)
17	g.80108363G>T	CA502178302	GAA	c.1029G>T (p.Leu343=)
17	g.80108364_80108365del	CA913191005	GAA	c.1030_1031del (p.Gly344ProfsTer?)	ClinVar dbSNP
17	g.80108364G>A	CA401364650	GAA	c.1030G>A (p.Gly344Ser)	dbSNP
17	g.80108364G>C	CA401364649	GAA	c.1030G>C (p.Gly344Arg)
17	g.80108364G=	CA2277812690	GAA	c.1030G= (p.Gly344=)
17	g.80108364G>T	CA401364647	GAA	c.1030G>T (p.Gly344Cys)

Number of alleles fetched