Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80108221C>A	CA2576414007	GAA	c.956-69C>A (n.956-69C>A)
17	g.80108222A=	CA2277812616	GAA	c.956-68A= (n.956-68A=)
17	g.80108222A>G	CA986705593	GAA	c.956-68A>G (n.956-68A>G)	dbSNP gnomAD v3 gnomAD v4
17	g.80108222A>T	CA775511927	GAA	c.956-68A>T (n.956-68A>T)	dbSNP gnomAD v4
17	g.80108224C=	CA2277812617	GAA	c.956-66C= (n.956-66C=)
17	g.80108224C>G	CA2277812618	GAA	c.956-66C>G (n.956-66C>G)	dbSNP gnomAD v4
17	g.80108225T>C	CA2640285431	GAA	c.956-65T>C (n.956-65T>C)	gnomAD v4
17	g.80108226G>A	CA294891646	GAA	c.956-64G>A (n.956-64G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108226G>C	CA2640285434	GAA	c.956-64G>C (n.956-64G>C)	gnomAD v4
17	g.80108226G=	CA2277812619	GAA	c.956-64G= (n.956-64G=)
17	g.80108226G>T	CA2640285436	GAA	c.956-64G>T (n.956-64G>T)	gnomAD v4
17	g.80108227_80108228delinsTG	CA2277812620	GAA	c.956-63_956-62delinsTG (n.956-63_956-62delinsTG)
17	g.80108228G>T	CA2810576451	GAA	c.956-62G>T (n.956-62G>T)
17	g.80108231del	CA2277812621	GAA	c.956-59del (n.956-59del)	dbSNP
17	g.80108229G>T	CA2640285437	GAA	c.956-61G>T (n.956-61G>T)	gnomAD v4
17	g.80108230G>A	CA2518499918	GAA	c.956-60G>A (n.956-60G>A)	gnomAD v4
17	g.80108231G>A	CA775511929	GAA	c.956-59G>A (n.956-59G>A)	dbSNP gnomAD v3 gnomAD v4
17	g.80108231G>C	CA2576414008	GAA	c.956-59G>C (n.956-59G>C)
17	g.80108231G=	CA2277812622	GAA	c.956-59G= (n.956-59G=)
17	g.80108231G>T	CA294891651	GAA	c.956-59G>T (n.956-59G>T)	dbSNP gnomAD v3 gnomAD v4
17	g.80108232T>C	CA2576414009	GAA	c.956-58T>C (n.956-58T>C)
17	g.80108233G>A	CA2277812624	GAA	c.956-57G>A (n.956-57G>A)	dbSNP gnomAD v4
17	g.80108233G=	CA2277812623	GAA	c.956-57G= (n.956-57G=)
17	g.80108233G>T	CA2640285446	GAA	c.956-57G>T (n.956-57G>T)	gnomAD v4
17	g.80108234C>A	CA2640285448	GAA	c.956-56C>A (n.956-56C>A)	gnomAD v4
17	g.80108234C>T	CA2640285449	GAA	c.956-56C>T (n.956-56C>T)	gnomAD v4
17	g.80108235A>G	CA2576414010	GAA	c.956-55A>G (n.956-55A>G)	gnomAD v4
17	g.80108236G>A	CA294891657	GAA	c.956-54G>A (n.956-54G>A)	dbSNP gnomAD v3 gnomAD v4
17	g.80108236G>C	CA294891659	GAA	c.956-54G>C (n.956-54G>C)	dbSNP gnomAD v3 gnomAD v4
17	g.80108236G=	CA2277812625	GAA	c.956-54G= (n.956-54G=)
17	g.80108237A=	CA2277812626	GAA	c.956-53A= (n.956-53A=)
17	g.80108237A>C	CA2733952936	GAA	c.956-53A>C (n.956-53A>C)	dbSNP
17	g.80108237A>G	CA627699080	GAA	c.956-53A>G (n.956-53A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108239C>A	CA2640285455	GAA	c.956-51C>A (n.956-51C>A)	gnomAD v4
17	g.80108240C=	CA2277812627	GAA	c.956-50C= (n.956-50C=)
17	g.80108240C>T	CA986705599	GAA	c.956-50C>T (n.956-50C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.80108241C=	CA2277812628	GAA	c.956-49C= (n.956-49C=)
17	g.80108241C>T	CA627699081	GAA	c.956-49C>T (n.956-49C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108243C=	CA2277812629	GAA	c.956-47C= (n.956-47C=)
17	g.80108243C>G	CA627699082	GAA	c.956-47C>G (n.956-47C>G)	dbSNP gnomAD v2 gnomAD v4
17	g.80108245A=	CA2277812630	GAA	c.956-45A= (n.956-45A=)
17	g.80108245A>G	CA294891660	GAA	c.956-45A>G (n.956-45A>G)	dbSNP gnomAD v3 gnomAD v4
17	g.80108246A=	CA2277812631	GAA	c.956-44A= (n.956-44A=)
17	g.80108246A>G	CA627699083	GAA	c.956-44A>G (n.956-44A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108248T>C	CA294891662	GAA	c.956-42T>C (n.956-42T>C)	dbSNP gnomAD v4
17	g.80108248T=	CA2277812632	GAA	c.956-42T= (n.956-42T=)
17	g.80108254A=	CA2277812633	GAA	c.956-36A= (n.956-36A=)
17	g.80108254A>G	CA2277812634	GAA	c.956-36A>G (n.956-36A>G)	dbSNP gnomAD v4
17	g.80108255T>A	CA2640285465	GAA	c.956-35T>A (n.956-35T>A)	gnomAD v4
17	g.80108258G>A	CA2640285467	GAA	c.956-32G>A (n.956-32G>A)	gnomAD v4
17	g.80108259T>C	CA8815115	GAA	c.956-31T>C (n.956-31T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80108259T=	CA2277812635	GAA	c.956-31T= (n.956-31T=)
17	g.80108260C>T	CA2734101630	GAA	c.956-30C>T (n.956-30C>T)	dbSNP
17	g.80108261C>A	CA2640285475	GAA	c.956-29C>A (n.956-29C>A)	gnomAD v4
17	g.80108261C>T	CA2640285474	GAA	c.956-29C>T (n.956-29C>T)	gnomAD v4
17	g.80108262C=	CA2277812636	GAA	c.956-28C= (n.956-28C=)
17	g.80108262C>T	CA8815116	GAA	c.956-28C>T (n.956-28C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80108263C=	CA2277812637	GAA	c.956-27C= (n.956-27C=)
17	g.80108263C>G	CA775511953	GAA	c.956-27C>G (n.956-27C>G)	dbSNP gnomAD v3 gnomAD v4
17	g.80108263C>T	CA2640285478	GAA	c.956-27C>T (n.956-27C>T)	gnomAD v4
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)

Number of alleles fetched