Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104734_80107789del	CA658795223	GAA	c.148_859-11del	ClinVar
17	g.80105061T>A	CA401361607	GAA	c.475T>A (p.Phe159Ile)
17	g.80105061T>C	CA401361608	GAA	c.475T>C (p.Phe159Leu)
17	g.80105061T>G	CA401361611	GAA	c.475T>G (p.Phe159Val)
17	g.80105062T>A	CA401361614	GAA	c.476T>A (p.Phe159Tyr)
17	g.80105062T>C	CA401361616	GAA	c.476T>C (p.Phe159Ser)
17	g.80105062T>G	CA401361618	GAA	c.476T>G (p.Phe159Cys)
17	g.80105063C>A	CA401361620	GAA	c.477C>A (p.Phe159Leu)
17	g.80105063C=	CA2277810808	GAA	c.477C= (p.Phe159=)
17	g.80105063C>G	CA401361619	GAA	c.477C>G (p.Phe159Leu)	dbSNP gnomAD v2
17	g.80105063C>T	CA502402468	GAA	c.477C>T (p.Phe159=)	gnomAD v4
17	g.80105064T>A	CA401361621	GAA	c.478T>A (p.Phe160Ile)
17	g.80105064T>C	CA401361622	GAA	c.478T>C (p.Phe160Leu)	gnomAD v4
17	g.80105064T>G	CA401361623	GAA	c.478T>G (p.Phe160Val)
17	g.80105065T>A	CA401361624	GAA	c.479T>A (p.Phe160Tyr)
17	g.80105065T>C	CA401361625	GAA	c.479T>C (p.Phe160Ser)
17	g.80105065T>G	CA401361626	GAA	c.479T>G (p.Phe160Cys)
17	g.80105065_80105067delinsTCC	CA2277810809	GAA	c.479_481delinsTCC (p.Phe160=)
17	g.80105066C>A	CA401361627	GAA	c.480C>A (p.Phe160Leu)
17	g.80105066C=	CA2277810810	GAA	c.480C= (p.Phe160=)
17	g.80105066C>G	CA401361628	GAA	c.480C>G (p.Phe160Leu)
17	g.80105066C>T	CA502402471	GAA	c.480C>T (p.Phe160=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80105069dup	CA658795231	GAA	c.483dup (p.Lys162GlnfsTer15)
17	g.80105068_80105069del	CA8814879	GAA	c.482_483del (p.Pro161GlnfsTer15)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80105067C>A	CA401361629	GAA	c.481C>A (p.Pro161Thr)
17	g.80105067C>G	CA401361630	GAA	c.481C>G (p.Pro161Ala)
17	g.80105067C>T	CA401361631	GAA	c.481C>T (p.Pro161Ser)
17	g.80105068C>A	CA294887341	GAA	c.482C>A (p.Pro161His)	ClinVar dbSNP gnomAD v4
17	g.80105068C=	CA2277810811	GAA	c.482C= (p.Pro161=)
17	g.80105068C>G	CA401361632	GAA	c.482C>G (p.Pro161Arg)
17	g.80105068C>T	CA401361633	GAA	c.482C>T (p.Pro161Leu)
17	g.80105069C>A	CA502402478	GAA	c.483C>A (p.Pro161=)
17	g.80105069C=	CA2277810812	GAA	c.483C= (p.Pro161=)
17	g.80105069C>G	CA502402479	GAA	c.483C>G (p.Pro161=)	COSMIC
17	g.80105069C>T	CA502402480	GAA	c.483C>T (p.Pro161=)	dbSNP
17	g.80105070A>C	CA401361634	GAA	c.484A>C (p.Lys162Gln)
17	g.80105070A>G	CA401361635	GAA	c.484A>G (p.Lys162Glu)
17	g.80105070A>T	CA401361636	GAA	c.484A>T (p.Lys162Ter)
17	g.80105071A=	CA2277810813	GAA	c.485A= (p.Lys162=)
17	g.80105071A>C	CA401361637	GAA	c.485A>C (p.Lys162Thr)
17	g.80105071A>G	CA401361638	GAA	c.485A>G (p.Lys162Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80105071A>T	CA401361639	GAA	c.485A>T (p.Lys162Met)
17	g.80105072G>A	CA502402482	GAA	c.486G>A (p.Lys162=)
17	g.80105072G>C	CA401361641	GAA	c.486G>C (p.Lys162Asn)
17	g.80105072G>T	CA401361640	GAA	c.486G>T (p.Lys162Asn)
17	g.80105073G>A	CA401361642	GAA	c.487G>A (p.Asp163Asn)	ClinVar dbSNP gnomAD v4
17	g.80105073G>C	CA401361644	GAA	c.487G>C (p.Asp163His)
17	g.80105073G=	CA2277810814	GAA	c.487G= (p.Asp163=)
17	g.80105073G>T	CA401361643	GAA	c.487G>T (p.Asp163Tyr)	gnomAD v4
17	g.80105076_80105110del	CA2695200351	GAA	c.490_524del (p.Ile164Ter)	ClinVar
17	g.80105074A=	CA2277810815	GAA	c.488A= (p.Asp163=)
17	g.80105074A>C	CA401361645	GAA	c.488A>C (p.Asp163Ala)
17	g.80105074A>G	CA401361646	GAA	c.488A>G (p.Asp163Gly)	gnomAD v4
17	g.80105074A>T	CA8814880	GAA	c.488A>T (p.Asp163Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105075C>A	CA401361647	GAA	c.489C>A (p.Asp163Glu)
17	g.80105075C>G	CA401361648	GAA	c.489C>G (p.Asp163Glu)
17	g.80105075C>T	CA502402491	GAA	c.489C>T (p.Asp163=)	gnomAD v4
17	g.80105076A=	CA2277810816	GAA	c.490A= (p.Ile164=)
17	g.80105076A>C	CA401361649	GAA	c.490A>C (p.Ile164Leu)
17	g.80105076A>G	CA401361650	GAA	c.490A>G (p.Ile164Val)
17	g.80105076A>T	CA401361651	GAA	c.490A>T (p.Ile164Phe)	dbSNP
17	g.80105077T>A	CA401361652	GAA	c.491T>A (p.Ile164Asn)
17	g.80105077T>C	CA401361653	GAA	c.491T>C (p.Ile164Thr)	gnomAD v4
17	g.80105077T>G	CA401361654	GAA	c.491T>G (p.Ile164Ser)
17	g.80105078C>A	CA502402503	GAA	c.492C>A (p.Ile164=)
17	g.80105078C>G	CA401361655	GAA	c.492C>G (p.Ile164Met)
17	g.80105078C>T	CA502402498	GAA	c.492C>T (p.Ile164=)
17	g.80105079C>A	CA401361657	GAA	c.493C>A (p.Leu165Met)
17	g.80105079C>G	CA401361656	GAA	c.493C>G (p.Leu165Val)
17	g.80105079C>T	CA502402506	GAA	c.493C>T (p.Leu165=)	ClinVar
17	g.80105080T>A	CA401361658	GAA	c.494T>A (p.Leu165Gln)
17	g.80105080T>C	CA401361659	GAA	c.494T>C (p.Leu165Pro)	dbSNP
17	g.80105080T>G	CA401361660	GAA	c.494T>G (p.Leu165Arg)	gnomAD v4
17	g.80105080T=	CA2277810817	GAA	c.494T= (p.Leu165=)
17	g.80105081G>A	CA502402508	GAA	c.495G>A (p.Leu165=)
17	g.80105081G>C	CA502402511	GAA	c.495G>C (p.Leu165=)
17	g.80105081G>T	CA502402509	GAA	c.495G>T (p.Leu165=)	gnomAD v4
17	g.80105082A>C	CA401361661	GAA	c.496A>C (p.Thr166Pro)
17	g.80105082A>G	CA401361662	GAA	c.496A>G (p.Thr166Ala)
17	g.80105082A>T	CA401361663	GAA	c.496A>T (p.Thr166Ser)
17	g.80105083C>A	CA401361666	GAA	c.497C>A (p.Thr166Asn)
17	g.80105083C>G	CA401361664	GAA	c.497C>G (p.Thr166Ser)
17	g.80105083C>T	CA401361665	GAA	c.497C>T (p.Thr166Ile)	ClinVar
17	g.80105084C>A	CA502402516	GAA	c.498C>A (p.Thr166=)
17	g.80105084C=	CA2277810818	GAA	c.498C= (p.Thr166=)
17	g.80105084C>G	CA502402518	GAA	c.498C>G (p.Thr166=)	dbSNP gnomAD v3 gnomAD v4
17	g.80105084C>T	CA502402519	GAA	c.498C>T (p.Thr166=)	ClinVar gnomAD v4
17	g.80105085C>A	CA401361667	GAA	c.499C>A (p.Leu167Met)
17	g.80105085C>G	CA401361668	GAA	c.499C>G (p.Leu167Val)
17	g.80105085C>T	CA502402521	GAA	c.499C>T (p.Leu167=)	ClinVar
17	g.80105086T>A	CA401361669	GAA	c.500T>A (p.Leu167Gln)	gnomAD v4
17	g.80105086T>C	CA401361670	GAA	c.500T>C (p.Leu167Pro)
17	g.80105086T>G	CA401361671	GAA	c.500T>G (p.Leu167Arg)
17	g.80105087G>A	CA502402524	GAA	c.501G>A (p.Leu167=)	ClinVar dbSNP
17	g.80105087G>C	CA502402526	GAA	c.501G>C (p.Leu167=)
17	g.80105087G=	CA2277810819	GAA	c.501G= (p.Leu167=)
17	g.80105087G>T	CA502402525	GAA	c.501G>T (p.Leu167=)
17	g.80105087_80105088delinsAA	CA2573154928	GAA	c.501_502delinsAA (p.Leu167=)	ClinVar dbSNP
17	g.80105088C>A	CA8814881	GAA	c.502C>A (p.Arg168=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80105088C=	CA2277810820	GAA	c.502C= (p.Arg168=)
17	g.80105088C>G	CA401361672	GAA	c.502C>G (p.Arg168Gly)
17	g.80105088C>T	CA8814882	GAA	c.502C>T (p.Arg168Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105089G>A	CA8814884	GAA	c.503G>A (p.Arg168Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105089G>C	CA401361673	GAA	c.503G>C (p.Arg168Pro)	ClinVar dbSNP
17	g.80105089G=	CA2277810821	GAA	c.503G= (p.Arg168=)
17	g.80105089G>T	CA8814883	GAA	c.503G>T (p.Arg168Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105090G>A	CA502402532	GAA	c.504G>A (p.Arg168=)
17	g.80105090G>C	CA502402533	GAA	c.504G>C (p.Arg168=)
17	g.80105090G>T	CA502402534	GAA	c.504G>T (p.Arg168=)	ClinVar gnomAD v4
17	g.80105091C>A	CA401361677	GAA	c.505C>A (p.Leu169Met)
17	g.80105091C>G	CA401361680	GAA	c.505C>G (p.Leu169Val)
17	g.80105091C>T	CA502402537	GAA	c.505C>T (p.Leu169=)
17	g.80105092T>A	CA401361687	GAA	c.506T>A (p.Leu169Gln)
17	g.80105092T>C	CA401361685	GAA	c.506T>C (p.Leu169Pro)	ClinVar
17	g.80105092T>G	CA401361683	GAA	c.506T>G (p.Leu169Arg)
17	g.80105093G>A	CA502402541	GAA	c.507G>A (p.Leu169=)	gnomAD v4
17	g.80105093G>C	CA502402542	GAA	c.507G>C (p.Leu169=)
17	g.80105093G=	CA2277810822	GAA	c.507G= (p.Leu169=)
17	g.80105093G>T	CA502402543	GAA	c.507G>T (p.Leu169=)	dbSNP gnomAD v2 gnomAD v4
17	g.80105094G>A	CA401361691	GAA	c.508G>A (p.Asp170Asn)
17	g.80105094G>C	CA401361693	GAA	c.508G>C (p.Asp170His)
17	g.80105094G>T	CA401361695	GAA	c.508G>T (p.Asp170Tyr)
17	g.80105095A=	CA2277810823	GAA	c.509A= (p.Asp170=)
17	g.80105095A>C	CA401361698	GAA	c.509A>C (p.Asp170Ala)
17	g.80105095A>G	CA294887359	GAA	c.509A>G (p.Asp170Gly)	dbSNP gnomAD v4
17	g.80105095A>T	CA401361702	GAA	c.509A>T (p.Asp170Val)
17	g.80105096C>A	CA401361705	GAA	c.510C>A (p.Asp170Glu)	dbSNP
17	g.80105096C=	CA2277810824	GAA	c.510C= (p.Asp170=)
17	g.80105096C>G	CA401361704	GAA	c.510C>G (p.Asp170Glu)
17	g.80105096C>T	CA8814885	GAA	c.510C>T (p.Asp170=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105097del	CA2573054600	GAA	c.511del (p.Val171Ter)	ClinVar dbSNP
17	g.80105097G>A	CA10651252	GAA	c.511G>A (p.Val171Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105097G>C	CA401361709	GAA	c.511G>C (p.Val171Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80105097G=	CA2277810825	GAA	c.511G= (p.Val171=)
17	g.80105097G>T	CA401361711	GAA	c.511G>T (p.Val171Leu)
17	g.80105098T>A	CA401361714	GAA	c.512T>A (p.Val171Glu)
17	g.80105098T>C	CA401361716	GAA	c.512T>C (p.Val171Ala)
17	g.80105098T>G	CA401361718	GAA	c.512T>G (p.Val171Gly)
17	g.80105103_80105105del	CA891862611	GAA	c.517_519del (p.Met173del)
17	g.80105099G>A	CA502402552	GAA	c.513G>A (p.Val171=)
17	g.80105099G>C	CA502402553	GAA	c.513G>C (p.Val171=)	ClinVar dbSNP gnomAD v2
17	g.80105099G=	CA2277810826	GAA	c.513G= (p.Val171=)
17	g.80105099G>T	CA502402554	GAA	c.513G>T (p.Val171=)	gnomAD v4
17	g.80105100A=	CA2277810827	GAA	c.514A= (p.Met172=)
17	g.80105100A>C	CA401361722	GAA	c.514A>C (p.Met172Leu)
17	g.80105100A>G	CA401361724	GAA	c.514A>G (p.Met172Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80105100A>T	CA401361726	GAA	c.514A>T (p.Met172Leu)	gnomAD v4
17	g.80105101del	CA2640276230	GAA	c.515del (p.Met172ArgfsTer?)	gnomAD v4
17	g.80105101T>A	CA401361729	GAA	c.515T>A (p.Met172Lys)	dbSNP gnomAD v2 gnomAD v4
17	g.80105101T>C	CA401361732	GAA	c.515T>C (p.Met172Thr)	ClinVar gnomAD v4
17	g.80105101T>G	CA401361733	GAA	c.515T>G (p.Met172Arg)
17	g.80105101T=	CA2277810828	GAA	c.515T= (p.Met172=)
17	g.80105102G>A	CA401361736	GAA	c.516G>A (p.Met172Ile)	gnomAD v4
17	g.80105102G>C	CA401361741	GAA	c.516G>C (p.Met172Ile)
17	g.80105102G=	CA2277810829	GAA	c.516G= (p.Met172=)
17	g.80105102G>T	CA401361738	GAA	c.516G>T (p.Met172Ile)	dbSNP gnomAD v2 gnomAD v4
17	g.80105103A=	CA2277810830	GAA	c.517A= (p.Met173=)
17	g.80105103A>C	CA401361744	GAA	c.517A>C (p.Met173Leu)
17	g.80105103A>G	CA401361748	GAA	c.517A>G (p.Met173Val)	dbSNP gnomAD v2 gnomAD v4
17	g.80105103A>T	CA401361746	GAA	c.517A>T (p.Met173Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105104T>A	CA401361750	GAA	c.518T>A (p.Met173Lys)
17	g.80105104T>C	CA401361752	GAA	c.518T>C (p.Met173Thr)	gnomAD v4
17	g.80105104T>G	CA401361755	GAA	c.518T>G (p.Met173Arg)
17	g.80105106_80105112del	CA2739265768	GAA	c.520_526del (p.Glu174ArgfsTer?)	ClinVar
17	g.80105105G>A	CA401361758	GAA	c.519G>A (p.Met173Ile)
17	g.80105105G>C	CA401361760	GAA	c.519G>C (p.Met173Ile)
17	g.80105105G>T	CA401361761	GAA	c.519G>T (p.Met173Ile)
17	g.80105106G>A	CA401361764	GAA	c.520G>A (p.Glu174Lys)	COSMIC
17	g.80105106G>C	CA401361765	GAA	c.520G>C (p.Glu174Gln)
17	g.80105106G>T	CA401361768	GAA	c.520G>T (p.Glu174Ter)	gnomAD v4
17	g.80105107A>C	CA401361770	GAA	c.521A>C (p.Glu174Ala)
17	g.80105107A>G	CA401361772	GAA	c.521A>G (p.Glu174Gly)
17	g.80105107A>T	CA401361774	GAA	c.521A>T (p.Glu174Val)	gnomAD v4
17	g.80105108G>A	CA502402566	GAA	c.522G>A (p.Glu174=)	ClinVar
17	g.80105108G>C	CA401361777	GAA	c.522G>C (p.Glu174Asp)
17	g.80105108G=	CA2277810831	GAA	c.522G= (p.Glu174=)
17	g.80105108G>T	CA8814886	GAA	c.522G>T (p.Glu174Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80105109A>C	CA401361781	GAA	c.523A>C (p.Thr175Pro)
17	g.80105109A>G	CA401361783	GAA	c.523A>G (p.Thr175Ala)
17	g.80105109A>T	CA401361785	GAA	c.523A>T (p.Thr175Ser)
17	g.80105110C>A	CA401361789	GAA	c.524C>A (p.Thr175Asn)
17	g.80105110C=	CA2277810833	GAA	c.524C= (p.Thr175=)
17	g.80105110C>G	CA401361791	GAA	c.524C>G (p.Thr175Ser)
17	g.80105110C>T	CA401361792	GAA	c.524C>T (p.Thr175Ile)	gnomAD v4
17	g.80105110_80105111del	CA913184732	GAA	c.524_525del (p.Thr175ArgfsTer13)
17	g.80105110_80105111delinsCT	CA2277810832	GAA	c.524_525delinsCT (p.Thr175=)
17	g.80105110_80105112delinsCTG	CA2277810834	GAA	c.524_526delinsCTG (p.Thr175=)
17	g.80105111del	CA220406	GAA	c.525del (p.Glu176ArgfsTer?)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105111T>A	CA502402580	GAA	c.525T>A (p.Thr175=)
17	g.80105111T>C	CA502402579	GAA	c.525T>C (p.Thr175=)	ClinVar dbSNP gnomAD v4
17	g.80105111T>G	CA502402578	GAA	c.525T>G (p.Thr175=)
17	g.80105111T=	CA2277810835	GAA	c.525T= (p.Thr175=)
17	g.80105111dup	CA8814887	GAA	c.525dup (p.Glu176Ter)	dbSNP ExAC gnomAD v2
17	g.80105111_80105112del	CA274328	GAA	c.525_526del (p.Asn177ProfsTer11)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80105112del	CA401361805	GAA	c.526del (p.Glu176ArgfsTer?)
17	g.80105112G>A	CA294887367	GAA	c.526G>A (p.Glu176Lys)	dbSNP gnomAD v3 gnomAD v4
17	g.80105112G>C	CA401361801	GAA	c.526G>C (p.Glu176Gln)	COSMIC
17	g.80105112G=	CA2277810836	GAA	c.526G= (p.Glu176=)
17	g.80105112G>T	CA401361802	GAA	c.526G>T (p.Glu176Ter)	gnomAD v4
17	g.80105114_80105115del	CA2580612685	GAA	c.528_529del (p.Asn177ProfsTer11)	ClinVar dbSNP
17	g.80105113A>C	CA401361808	GAA	c.527A>C (p.Glu176Ala)
17	g.80105113A>G	CA401361812	GAA	c.527A>G (p.Glu176Gly)
17	g.80105113A>T	CA401361810	GAA	c.527A>T (p.Glu176Val)
17	g.80105114G>A	CA502402582	GAA	c.528G>A (p.Glu176=)	gnomAD v4
17	g.80105114G>C	CA401361814	GAA	c.528G>C (p.Glu176Asp)
17	g.80105114G>T	CA401361816	GAA	c.528G>T (p.Glu176Asp)	gnomAD v4
17	g.80105115A>C	CA401361819	GAA	c.529A>C (p.Asn177His)
17	g.80105115A>G	CA401361822	GAA	c.529A>G (p.Asn177Asp)
17	g.80105115A>T	CA401361824	GAA	c.529A>T (p.Asn177Tyr)
17	g.80105116A=	CA2277810837	GAA	c.530A= (p.Asn177=)
17	g.80105116A>C	CA294887368	GAA	c.530A>C (p.Asn177Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80105116A>G	CA401361827	GAA	c.530A>G (p.Asn177Ser)
17	g.80105116A>T	CA401361828	GAA	c.530A>T (p.Asn177Ile)
17	g.80105117C>A	CA401361832	GAA	c.531C>A (p.Asn177Lys)	COSMIC
17	g.80105117C=	CA2277810838	GAA	c.531C= (p.Asn177=)
17	g.80105117C>G	CA401361834	GAA	c.531C>G (p.Asn177Lys)
17	g.80105117C>T	CA10647050	GAA	c.531C>T (p.Asn177=)	ClinVar dbSNP
17	g.80105118C>A	CA401361843	GAA	c.532C>A (p.Arg178Ser)	gnomAD v4
17	g.80105118C=	CA2277810839	GAA	c.532C= (p.Arg178=)
17	g.80105118C>G	CA401361841	GAA	c.532C>G (p.Arg178Gly)
17	g.80105118C>T	CA8814888	GAA	c.532C>T (p.Arg178Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80105119G>A	CA8814889	GAA	c.533G>A (p.Arg178His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105119G>C	CA401361847	GAA	c.533G>C (p.Arg178Pro)
17	g.80105119G=	CA2277810840	GAA	c.533G= (p.Arg178=)
17	g.80105119G>T	CA401361850	GAA	c.533G>T (p.Arg178Leu)	gnomAD v4
17	g.80105120C>A	CA502402591	GAA	c.534C>A (p.Arg178=)	gnomAD v4
17	g.80105120C=	CA2277810841	GAA	c.534C= (p.Arg178=)
17	g.80105120C>G	CA8814890	GAA	c.534C>G (p.Arg178=)	ClinVar dbSNP ExAC gnomAD v2
17	g.80105120C>T	CA502402595	GAA	c.534C>T (p.Arg178=)
17	g.80105121C>A	CA401361855	GAA	c.535C>A (p.Leu179Ile)
17	g.80105121C>G	CA401361857	GAA	c.535C>G (p.Leu179Val)	gnomAD v4
17	g.80105121C>T	CA401361859	GAA	c.535C>T (p.Leu179Phe)
17	g.80105122T>A	CA401361864	GAA	c.536T>A (p.Leu179His)
17	g.80105122T>C	CA401361866	GAA	c.536T>C (p.Leu179Pro)
17	g.80105122T>G	CA401361868	GAA	c.536T>G (p.Leu179Arg)
17	g.80105123C>A	CA502402598	GAA	c.537C>A (p.Leu179=)
17	g.80105123C>G	CA502402599	GAA	c.537C>G (p.Leu179=)	gnomAD v4
17	g.80105123C>T	CA502402600	GAA	c.537C>T (p.Leu179=)
17	g.80105124C>A	CA401361871	GAA	c.538C>A (p.His180Asn)
17	g.80105124C>G	CA401361872	GAA	c.538C>G (p.His180Asp)
17	g.80105124C>T	CA401361874	GAA	c.538C>T (p.His180Tyr)
17	g.80105127_80105131del	CA2695227065	GAA	c.541_545del (p.Phe181AspfsTer6)
17	g.80105125A=	CA2277810842	GAA	c.539A= (p.His180=)
17	g.80105125A>C	CA401361878	GAA	c.539A>C (p.His180Pro)	gnomAD v4
17	g.80105125A>G	CA8814891	GAA	c.539A>G (p.His180Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105125A>T	CA401361877	GAA	c.539A>T (p.His180Leu)
17	g.80105126C>A	CA401361880	GAA	c.540C>A (p.His180Gln)
17	g.80105126C>G	CA401361881	GAA	c.540C>G (p.His180Gln)
17	g.80105126C>T	CA502402603	GAA	c.540C>T (p.His180=)
17	g.80105127T>A	CA401361883	GAA	c.541T>A (p.Phe181Ile)
17	g.80105127T>C	CA8814892	GAA	c.541T>C (p.Phe181Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80105127T>G	CA401361885	GAA	c.541T>G (p.Phe181Val)
17	g.80105127T=	CA2277810843	GAA	c.541T= (p.Phe181=)
17	g.80105128T>A	CA401361889	GAA	c.542T>A (p.Phe181Tyr)
17	g.80105128T>C	CA401361893	GAA	c.542T>C (p.Phe181Ser)	dbSNP
17	g.80105128T>G	CA401361890	GAA	c.542T>G (p.Phe181Cys)
17	g.80105129C>A	CA401361894	GAA	c.543C>A (p.Phe181Leu)
17	g.80105129C=	CA2277810844	GAA	c.543C= (p.Phe181=)
17	g.80105129C>G	CA401361896	GAA	c.543C>G (p.Phe181Leu)
17	g.80105129C>T	CA502402607	GAA	c.543C>T (p.Phe181=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80105130A>C	CA401361898	GAA	c.544A>C (p.Thr182Pro)
17	g.80105130A>G	CA401361900	GAA	c.544A>G (p.Thr182Ala)
17	g.80105130A>T	CA401361902	GAA	c.544A>T (p.Thr182Ser)
17	g.80105131C>A	CA401361904	GAA	c.545C>A (p.Thr182Lys)
17	g.80105131C=	CA2277810845	GAA	c.545C= (p.Thr182=)
17	g.80105131C>G	CA8814893	GAA	c.545C>G (p.Thr182Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105131C>T	CA8814894	GAA	c.545C>T (p.Thr182Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105131_80105135delinsCGGTG	CA2277810846	GAA	c.545_546+3delinsCGGTG
17	g.80105134_80105157del	CA2576660787	GAA	c.546+2_546+25del
17	g.80105132G>A	CA8814895	GAA	c.546G>A (p.Thr182=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105132G>C	CA10603795	GAA	c.546G>C (p.Thr182=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80105132G=	CA2277810847	GAA	c.546G= (p.Thr182=)
17	g.80105132G>T	CA16041884	GAA	c.546G>T (p.Thr182=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80105133del	CA2695227066	GAA	c.546+1del
17	g.80105134_80105136del	CA2576660788	GAA	c.546+2_546+4del
17	g.80105134_80105137del	CA502402612	GAA	c.546+2_546+5del	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105133G>A	CA401361909	GAA	c.546+1G>A (n.546+1G>A)
17	g.80105133G>C	CA401361912	GAA	c.546+1G>C (n.546+1G>C)
17	g.80105133G=	CA2277810848	GAA	c.546+1G= (n.546+1G=)
17	g.80105133G>T	CA401361913	GAA	c.546+1G>T (n.546+1G>T)	gnomAD v4
17	g.80105134T>A	CA401361915	GAA	c.546+2T>A (n.546+2T>A)
17	g.80105134T>C	CA401361919	GAA	c.546+2T>C (n.546+2T>C)	ClinVar
17	g.80105134T>G	CA401361917	GAA	c.546+2T>G (n.546+2T>G)
17	g.80105134T=	CA2277810849	GAA	c.546+2T= (n.546+2T=)
17	g.80105134_80105138dup	CA8814896	GAA	c.546+2_546+6dup (n.546+2_546+6dup)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105135G>A	CA8814898	GAA	c.546+3G>A (n.546+3G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105135G=	CA2277810850	GAA	c.546+3G= (n.546+3G=)
17	g.80105135G>T	CA2640276484	GAA	c.546+3G>T (n.546+3G>T)	gnomAD v4
17	g.80105143_80105147dup	CA8814897	GAA	c.546+11_546+15dup (n.546+11_546+15dup)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105143_80105147del	CA2576660789	GAA	c.546+11_546+15del (n.546+11_546+15del)	gnomAD v4
17	g.80105136G>C	CA8814899	GAA	c.546+4G>C (n.546+4G>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105136G=	CA2277810851	GAA	c.546+4G= (n.546+4G=)
17	g.80105137G>A	CA8814900	GAA	c.546+5G>A (n.546+5G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105137G=	CA2277810852	GAA	c.546+5G= (n.546+5G=)
17	g.80105137G>T	CA8814901	GAA	c.546+5G>T (n.546+5G>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105138C=	CA2277810853	GAA	c.546+6C= (n.546+6C=)
17	g.80105138C>T	CA8814902	GAA	c.546+6C>T (n.546+6C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105139A=	CA2277810854	GAA	c.546+7A= (n.546+7A=)
17	g.80105139A>C	CA628018327	GAA	c.546+7A>C (n.546+7A>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105139A>G	CA2573154929	GAA	c.546+7A>G (n.546+7A>G)	ClinVar dbSNP
17	g.80105139_80105144del	CA2697555225	GAA	c.546+7_546+12del (n.546+7_546+12del)	ClinVar
17	g.80105139_80105145delinsAGGGCAG	CA2277810855	GAA	c.546+7_546+13delinsAGGGCAG (n.546+7_546+13delinsAGGGCAG)
17	g.80105140G>A	CA294887513	GAA	c.546+8G>A (n.546+8G>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80105140G=	CA2277810856	GAA	c.546+8G= (n.546+8G=)
17	g.80105140G>T	CA2640276517	GAA	c.546+8G>T (n.546+8G>T)	gnomAD v4
17	g.80105144_80105149dup	CA2640276518	GAA	c.546+12_546+17dup (n.546+12_546+17dup)	ClinVar gnomAD v4
17	g.80105144_80105149del	CA628018328	GAA	c.546+12_546+17del (n.546+12_546+17del)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80105141G>A	CA2573154930	GAA	c.546+9G>A (n.546+9G>A)	ClinVar dbSNP
17	g.80105141G>C	CA2576660790	GAA	c.546+9G>C (n.546+9G>C)
17	g.80105142G>A	CA2697555226	GAA	c.546+10G>A (n.546+10G>A)	ClinVar
17	g.80105142G>T	CA2640276527	GAA	c.546+10G>T (n.546+10G>T)	gnomAD v4
17	g.80105143C>A	CA628018329	GAA	c.546+11C>A (n.546+11C>A)	dbSNP gnomAD v2 gnomAD v4
17	g.80105143C=	CA2277810857	GAA	c.546+11C= (n.546+11C=)
17	g.80105143C>T	CA2640276530	GAA	c.546+11C>T (n.546+11C>T)	gnomAD v4
17	g.80105144A=	CA2277810858	GAA	c.546+12A= (n.546+12A=)
17	g.80105144A>C	CA2640276535	GAA	c.546+12A>C (n.546+12A>C)	gnomAD v4
17	g.80105144A>G	CA628018330	GAA	c.546+12A>G (n.546+12A>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105144_80105150delinsAGGGGCG	CA2277810859	GAA	c.546+12_546+18delinsAGGGGCG (n.546+12_546+18delinsAGGGGCG)
17	g.80105145G>T	CA2640276542	GAA	c.546+13G>T (n.546+13G>T)	gnomAD v4
17	g.80105152_80105157dup	CA986721133	GAA	c.546+20_546+25dup (n.546+20_546+25dup)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80105152_80105157del	CA986721144	GAA	c.546+20_546+25del (n.546+20_546+25del)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80105148G>A	CA2580095295	GAA	c.546+16G>A (n.546+16G>A)	ClinVar gnomAD v4
17	g.80105148G>C	CA2573154931	GAA	c.546+16G>C (n.546+16G>C)	ClinVar dbSNP
17	g.80105148G=	CA2277810860	GAA	c.546+16G= (n.546+16G=)
17	g.80105148G>T	CA294887519	GAA	c.546+16G>T (n.546+16G>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80105149C>A	CA2640276556	GAA	c.546+17C>A (n.546+17C>A)	gnomAD v4
17	g.80105149C=	CA2277810861	GAA	c.546+17C= (n.546+17C=)
17	g.80105149C>T	CA8814903	GAA	c.546+17C>T (n.546+17C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105149_80105150delinsCG	CA2277810862	GAA	c.546+17_546+18delinsCG (n.546+17_546+18delinsCG)
17	g.80105150G>A	CA8814904	GAA	c.546+18G>A (n.546+18G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105150G=	CA2277810864	GAA	c.546+18G= (n.546+18G=)
17	g.80105150G>T	CA2640276563	GAA	c.546+18G>T (n.546+18G>T)	gnomAD v4
17	g.80105154dup	CA919905319	GAA	c.546+22dup (n.546+22dup)	dbSNP
17	g.80105154del	CA2277810863	GAA	c.546+22del (n.546+22del)	dbSNP gnomAD v4
17	g.80105152G>A	CA2580095296	GAA	c.546+20G>A (n.546+20G>A)	ClinVar gnomAD v4
17	g.80105153G>A	CA2640276569	GAA	c.546+21G>A (n.546+21G>A)	gnomAD v4
17	g.80105156_80105161dup	CA2640276568	GAA	c.546+24_546+29dup (n.546+24_546+29dup)	gnomAD v4
17	g.80105154G>A	CA8814906	GAA	c.546+22G>A (n.546+22G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105154G=	CA2277810865	GAA	c.546+22G= (n.546+22G=)
17	g.80105154G>T	CA2556385190	GAA	c.546+22G>T (n.546+22G>T)
17	g.80105154_80105155delinsGC	CA2277810866	GAA	c.546+22_546+23delinsGC (n.546+22_546+23delinsGC)
17	g.80105155del	CA8814905	GAA	c.546+23del (n.546+23del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105155C>A	CA2640276578	GAA	c.546+23C>A (n.546+23C>A)	gnomAD v4
17	g.80105155C=	CA2277810868	GAA	c.546+23C= (n.546+23C=)
17	g.80105155C>G	CA2277810867	GAA	c.546+23C>G (n.546+23C>G)	dbSNP
17	g.80105155C>T	CA8814907	GAA	c.546+23C>T (n.546+23C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105156G>A	CA8814908	GAA	c.546+24G>A (n.546+24G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105156G=	CA2277810869	GAA	c.546+24G= (n.546+24G=)
17	g.80105157G>A	CA986721158	GAA	c.546+25G>A (n.546+25G>A)	dbSNP gnomAD v3 gnomAD v4
17	g.80105157G=	CA2277810870	GAA	c.546+25G= (n.546+25G=)
17	g.80105158C>A	CA2277810872	GAA	c.546+26C>A (n.546+26C>A)	dbSNP gnomAD v4
17	g.80105158C=	CA2277810871	GAA	c.546+26C= (n.546+26C=)
17	g.80105158C>T	CA294887556	GAA	c.546+26C>T (n.546+26C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105159G>A	CA8814909	GAA	c.546+27G>A (n.546+27G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105159G>C	CA2640276587	GAA	c.546+27G>C (n.546+27G>C)	gnomAD v4
17	g.80105159G=	CA2277810873	GAA	c.546+27G= (n.546+27G=)
17	g.80105160G>A	CA2640276588	GAA	c.546+28G>A (n.546+28G>A)	gnomAD v4
17	g.80105160G=	CA2277810874	GAA	c.546+28G= (n.546+28G=)
17	g.80105160G>T	CA8814910	GAA	c.546+28G>T (n.546+28G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80105161C=	CA2277810875	GAA	c.546+29C= (n.546+29C=)
17	g.80105161C>G	CA2277810876	GAA	c.546+29C>G (n.546+29C>G)	dbSNP
17	g.80105161C>T	CA628018331	GAA	c.546+29C>T (n.546+29C>T)	dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched