Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104734_80107789del	CA658795223	GAA	c.148_859-11del	ClinVar
17	g.80104881_80104900del	CA2640275279	GAA	c.295_314del (p.Thr99ProfsTer?)	gnomAD v4
17	g.80104889A>C	CA401360667	GAA	c.303A>C (p.Glu101Asp)
17	g.80104889A>G	CA502402220	GAA	c.303A>G (p.Glu101=)	ClinVar dbSNP gnomAD v4
17	g.80104889A>T	CA401360668	GAA	c.303A>T (p.Glu101Asp)
17	g.80104890C>A	CA401360670	GAA	c.304C>A (p.Gln102Lys)
17	g.80104890C=	CA2277810704	GAA	c.304C= (p.Gln102=)
17	g.80104890C>G	CA401360672	GAA	c.304C>G (p.Gln102Glu)
17	g.80104890C>T	CA401360674	GAA	c.304C>T (p.Gln102Ter)	ClinVar dbSNP gnomAD v2
17	g.80104891A>C	CA401360675	GAA	c.305A>C (p.Gln102Pro)
17	g.80104891A>G	CA401360677	GAA	c.305A>G (p.Gln102Arg)	gnomAD v4
17	g.80104891A>T	CA401360679	GAA	c.305A>T (p.Gln102Leu)
17	g.80104892G>A	CA502402221	GAA	c.306G>A (p.Gln102=)	gnomAD v4
17	g.80104892G>C	CA401360681	GAA	c.306G>C (p.Gln102His)
17	g.80104892G>T	CA401360682	GAA	c.306G>T (p.Gln102His)
17	g.80104893T>A	CA401360687	GAA	c.307T>A (p.Cys103Ser)
17	g.80104893T>C	CA401360685	GAA	c.307T>C (p.Cys103Arg)	ClinVar dbSNP gnomAD v4
17	g.80104893T>G	CA220404	GAA	c.307T>G (p.Cys103Gly)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104893T=	CA2277810705	GAA	c.307T= (p.Cys103=)
17	g.80104894G>A	CA401360690	GAA	c.308G>A (p.Cys103Tyr)	ClinVar dbSNP
17	g.80104894G>C	CA401360691	GAA	c.308G>C (p.Cys103Ser)
17	g.80104894G>T	CA401360693	GAA	c.308G>T (p.Cys103Phe)
17	g.80104895C>A	CA401360695	GAA	c.309C>A (p.Cys103Ter)	ClinVar dbSNP
17	g.80104895C=	CA2277810706	GAA	c.309C= (p.Cys103=)
17	g.80104895C>G	CA401360696	GAA	c.309C>G (p.Cys103Trp)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.80104895C>T	CA8814844	GAA	c.309C>T (p.Cys103=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104895_80104898delinsCGAG	CA2277810707	GAA	c.309_312delinsCGAG (p.Cys103=)
17	g.80104896G>A	CA8814846	GAA	c.310G>A (p.Glu104Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104896G>C	CA8814845	GAA	c.310G>C (p.Glu104Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104896G=	CA2277810708	GAA	c.310G= (p.Glu104=)
17	g.80104896G>T	CA401360700	GAA	c.310G>T (p.Glu104Ter)
17	g.80104897_80104899del	CA916082437	GAA	c.311_313del (p.Glu104del)	ClinVar dbSNP
17	g.80104897A>C	CA401360702	GAA	c.311A>C (p.Glu104Ala)
17	g.80104897A>G	CA401360703	GAA	c.311A>G (p.Glu104Gly)
17	g.80104897A>T	CA401360704	GAA	c.311A>T (p.Glu104Val)
17	g.80104898G>A	CA502402222	GAA	c.312G>A (p.Glu104=)	dbSNP gnomAD v2
17	g.80104898G>C	CA401360707	GAA	c.312G>C (p.Glu104Asp)
17	g.80104898G=	CA2277810709	GAA	c.312G= (p.Glu104=)
17	g.80104898G>T	CA401360709	GAA	c.312G>T (p.Glu104Asp)	gnomAD v4
17	g.80104899G>A	CA401360713	GAA	c.313G>A (p.Ala105Thr)	gnomAD v4
17	g.80104899G>C	CA401360715	GAA	c.313G>C (p.Ala105Pro)
17	g.80104899G>T	CA401360712	GAA	c.313G>T (p.Ala105Ser)	gnomAD v4
17	g.80104900C>A	CA8814847	GAA	c.314C>A (p.Ala105Asp)	dbSNP ExAC
17	g.80104900C=	CA2277810710	GAA	c.314C= (p.Ala105=)
17	g.80104900C>G	CA401360718	GAA	c.314C>G (p.Ala105Gly)
17	g.80104900C>T	CA8814848	GAA	c.314C>T (p.Ala105Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104901C>A	CA502402223	GAA	c.315C>A (p.Ala105=)
17	g.80104901C>G	CA502402224	GAA	c.315C>G (p.Ala105=)
17	g.80104901C>T	CA502402225	GAA	c.315C>T (p.Ala105=)
17	g.80104902C>A	CA401360722	GAA	c.316C>A (p.Arg106Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.80104902C=	CA2277810711	GAA	c.316C= (p.Arg106=)
17	g.80104902C>G	CA401360724	GAA	c.316C>G (p.Arg106Gly)	ClinVar dbSNP gnomAD v4
17	g.80104902C>T	CA294887086	GAA	c.316C>T (p.Arg106Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104903G>A	CA8814849	GAA	c.317G>A (p.Arg106His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104903G>C	CA401360727	GAA	c.317G>C (p.Arg106Pro)
17	g.80104903G=	CA2277810712	GAA	c.317G= (p.Arg106=)
17	g.80104903G>T	CA401360728	GAA	c.317G>T (p.Arg106Leu)
17	g.80104904_80104909dup	CA2573154941	GAA	c.318_323dup (p.Cys108_Cys109insGlyCys)	ClinVar dbSNP
17	g.80104904C>A	CA502402226	GAA	c.318C>A (p.Arg106=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80104904C=	CA2277810713	GAA	c.318C= (p.Arg106=)
17	g.80104904C>G	CA502402227	GAA	c.318C>G (p.Arg106=)
17	g.80104904C>T	CA241288	GAA	c.318C>T (p.Arg106=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.80104905G>A	CA8814850	GAA	c.319G>A (p.Gly107Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104905G>C	CA401360731	GAA	c.319G>C (p.Gly107Arg)
17	g.80104905G=	CA2277810714	GAA	c.319G= (p.Gly107=)
17	g.80104905G>T	CA294887102	GAA	c.319G>T (p.Gly107Cys)	dbSNP gnomAD v2 gnomAD v4
17	g.80104906G>A	CA401360737	GAA	c.320G>A (p.Gly107Asp)	dbSNP gnomAD v2
17	g.80104906G>C	CA401360734	GAA	c.320G>C (p.Gly107Ala)
17	g.80104906G=	CA2277810715	GAA	c.320G= (p.Gly107=)
17	g.80104906G>T	CA401360736	GAA	c.320G>T (p.Gly107Val)
17	g.80104907C>A	CA502402228	GAA	c.321C>A (p.Gly107=)
17	g.80104907C>G	CA502402230	GAA	c.321C>G (p.Gly107=)
17	g.80104907C>T	CA502402229	GAA	c.321C>T (p.Gly107=)
17	g.80104908T>A	CA401360738	GAA	c.322T>A (p.Cys108Ser)	ClinVar dbSNP
17	g.80104908T>C	CA401360740	GAA	c.322T>C (p.Cys108Arg)
17	g.80104908T>G	CA401360742	GAA	c.322T>G (p.Cys108Gly)
17	g.80104908T=	CA2277810716	GAA	c.322T= (p.Cys108=)
17	g.80104909G>A	CA401360744	GAA	c.323G>A (p.Cys108Tyr)	ClinVar dbSNP gnomAD v4
17	g.80104909G>C	CA401360745	GAA	c.323G>C (p.Cys108Ser)
17	g.80104909G=	CA2277810717	GAA	c.323G= (p.Cys108=)
17	g.80104909G>T	CA401360747	GAA	c.323G>T (p.Cys108Phe)	gnomAD v4
17	g.80104909_80104910delinsAC	CA2695227063	GAA	c.323_324delinsAC (p.Cys108Tyr)
17	g.80104910T>A	CA401360749	GAA	c.324T>A (p.Cys108Ter)	dbSNP gnomAD v4
17	g.80104910T>C	CA145781	GAA	c.324T>C (p.Cys108=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104910T>G	CA401360751	GAA	c.324T>G (p.Cys108Trp)	dbSNP
17	g.80104910T=	CA2277810718	GAA	c.324T= (p.Cys108=)
17	g.80104911T>A	CA401360754	GAA	c.325T>A (p.Cys109Ser)
17	g.80104911T>C	CA294887113	GAA	c.325T>C (p.Cys109Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.80104911T>G	CA401360756	GAA	c.325T>G (p.Cys109Gly)
17	g.80104911T=	CA2277810719	GAA	c.325T= (p.Cys109=)
17	g.80104912G>A	CA401360760	GAA	c.326G>A (p.Cys109Tyr)	gnomAD v4
17	g.80104912G>C	CA401360761	GAA	c.326G>C (p.Cys109Ser)
17	g.80104912G>T	CA401360758	GAA	c.326G>T (p.Cys109Phe)
17	g.80104913C>A	CA401360765	GAA	c.327C>A (p.Cys109Ter)	gnomAD v4
17	g.80104913C>G	CA401360763	GAA	c.327C>G (p.Cys109Trp)
17	g.80104913C>T	CA502402231	GAA	c.327C>T (p.Cys109=)
17	g.80104914T>A	CA401360768	GAA	c.328T>A (p.Tyr110Asn)
17	g.80104914T>C	CA8814851	GAA	c.328T>C (p.Tyr110His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104914T>G	CA401360769	GAA	c.328T>G (p.Tyr110Asp)
17	g.80104914T=	CA2277810720	GAA	c.328T= (p.Tyr110=)
17	g.80104915A=	CA2277810721	GAA	c.329A= (p.Tyr110=)
17	g.80104915A>C	CA401360770	GAA	c.329A>C (p.Tyr110Ser)
17	g.80104915A>G	CA401360774	GAA	c.329A>G (p.Tyr110Cys)	dbSNP
17	g.80104915A>T	CA401360772	GAA	c.329A>T (p.Tyr110Phe)
17	g.80104916C>A	CA401360775	GAA	c.330C>A (p.Tyr110Ter)
17	g.80104916C>G	CA401360777	GAA	c.330C>G (p.Tyr110Ter)
17	g.80104916C>T	CA502402232	GAA	c.330C>T (p.Tyr110=)	ClinVar gnomAD v4
17	g.80104917A=	CA2277810722	GAA	c.331A= (p.Ile111=)
17	g.80104917A>C	CA401360779	GAA	c.331A>C (p.Ile111Leu)
17	g.80104917A>G	CA401360780	GAA	c.331A>G (p.Ile111Val)	dbSNP gnomAD v4
17	g.80104917A>T	CA401360782	GAA	c.331A>T (p.Ile111Phe)	dbSNP gnomAD v2 gnomAD v4
17	g.80104918T>A	CA401360783	GAA	c.332T>A (p.Ile111Asn)
17	g.80104918T>C	CA401360784	GAA	c.332T>C (p.Ile111Thr)
17	g.80104918T>G	CA401360785	GAA	c.332T>G (p.Ile111Ser)
17	g.80104919C>A	CA502402233	GAA	c.333C>A (p.Ile111=)
17	g.80104919C=	CA2277810723	GAA	c.333C= (p.Ile111=)
17	g.80104919C>G	CA401360786	GAA	c.333C>G (p.Ile111Met)	dbSNP gnomAD v3 gnomAD v4
17	g.80104919C>T	CA502402234	GAA	c.333C>T (p.Ile111=)	ClinVar dbSNP gnomAD v2
17	g.80104920C>A	CA401360789	GAA	c.334C>A (p.Pro112Thr)	gnomAD v4
17	g.80104920C=	CA2277810724	GAA	c.334C= (p.Pro112=)
17	g.80104920C>G	CA401360791	GAA	c.334C>G (p.Pro112Ala)	dbSNP gnomAD v2 gnomAD v4
17	g.80104920C>T	CA401360792	GAA	c.334C>T (p.Pro112Ser)	dbSNP
17	g.80104921C>A	CA401360795	GAA	c.335C>A (p.Pro112His)
17	g.80104921C>G	CA401360796	GAA	c.335C>G (p.Pro112Arg)
17	g.80104921C>T	CA401360798	GAA	c.335C>T (p.Pro112Leu)	gnomAD v4
17	g.80104922T>A	CA294887125	GAA	c.336T>A (p.Pro112=)	dbSNP
17	g.80104922T>C	CA502402235	GAA	c.336T>C (p.Pro112=)
17	g.80104922T>G	CA502402236	GAA	c.336T>G (p.Pro112=)
17	g.80104922T=	CA2277810725	GAA	c.336T= (p.Pro112=)
17	g.80104923G>A	CA401360801	GAA	c.337G>A (p.Ala113Thr)
17	g.80104923G>C	CA401360803	GAA	c.337G>C (p.Ala113Pro)
17	g.80104923G>T	CA401360804	GAA	c.337G>T (p.Ala113Ser)
17	g.80104924C>A	CA401360805	GAA	c.338C>A (p.Ala113Glu)
17	g.80104924C>G	CA401360807	GAA	c.338C>G (p.Ala113Gly)
17	g.80104924C>T	CA401360809	GAA	c.338C>T (p.Ala113Val)
17	g.80104925A>C	CA502402237	GAA	c.339A>C (p.Ala113=)
17	g.80104925A>G	CA502402238	GAA	c.339A>G (p.Ala113=)	gnomAD v4
17	g.80104925A>T	CA502402239	GAA	c.339A>T (p.Ala113=)
17	g.80104926A>C	CA401360810	GAA	c.340A>C (p.Lys114Gln)
17	g.80104926A>G	CA401360811	GAA	c.340A>G (p.Lys114Glu)
17	g.80104926A>T	CA401360813	GAA	c.340A>T (p.Lys114Ter)
17	g.80104926_80104927insT	CA658795226	GAA	c.340_341insT (p.Lys114IlefsTer?)	ClinVar dbSNP
17	g.80104927A=	CA2277810726	GAA	c.341A= (p.Lys114=)
17	g.80104927A>C	CA401360815	GAA	c.341A>C (p.Lys114Thr)	gnomAD v4
17	g.80104927A>G	CA8814852	GAA	c.341A>G (p.Lys114Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104927A>T	CA401360817	GAA	c.341A>T (p.Lys114Met)
17	g.80104927_80104928delinsAG	CA2277810727	GAA	c.341_342delinsAG (p.Lys114=)
17	g.80104928del	CA658798976	GAA	c.342del (p.Lys114AsnfsTer28)	ClinVar dbSNP
17	g.80104928G>A	CA502402240	GAA	c.342G>A (p.Lys114=)
17	g.80104928G>C	CA401360820	GAA	c.342G>C (p.Lys114Asn)
17	g.80104928G>T	CA401360821	GAA	c.342G>T (p.Lys114Asn)	gnomAD v4
17	g.80104929C>A	CA401360823	GAA	c.343C>A (p.Gln115Lys)
17	g.80104929C=	CA2277810728	GAA	c.343C= (p.Gln115=)
17	g.80104929C>G	CA401360825	GAA	c.343C>G (p.Gln115Glu)
17	g.80104929C>T	CA274228	GAA	c.343C>T (p.Gln115Ter)	ClinVar dbSNP
17	g.80104930A>C	CA401360827	GAA	c.344A>C (p.Gln115Pro)
17	g.80104930A>G	CA401360829	GAA	c.344A>G (p.Gln115Arg)
17	g.80104930A>T	CA401360831	GAA	c.344A>T (p.Gln115Leu)
17	g.80104931G>A	CA502402241	GAA	c.345G>A (p.Gln115=)	dbSNP gnomAD v2
17	g.80104931G>C	CA401360833	GAA	c.345G>C (p.Gln115His)
17	g.80104931G=	CA2277810729	GAA	c.345G= (p.Gln115=)
17	g.80104931G>T	CA401360834	GAA	c.345G>T (p.Gln115His)
17	g.80104932G>A	CA401360836	GAA	c.346G>A (p.Gly116Arg)
17	g.80104932G>C	CA401360838	GAA	c.346G>C (p.Gly116Arg)
17	g.80104932G>T	CA401360840	GAA	c.346G>T (p.Gly116Trp)	gnomAD v4
17	g.80104933G>A	CA401360844	GAA	c.347G>A (p.Gly116Glu)	ClinVar dbSNP
17	g.80104933G>C	CA401360842	GAA	c.347G>C (p.Gly116Ala)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104933G=	CA2277810730	GAA	c.347G= (p.Gly116=)
17	g.80104933G>T	CA8814853	GAA	c.347G>T (p.Gly116Val)	ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
17	g.80104934G>A	CA502402242	GAA	c.348G>A (p.Gly116=)
17	g.80104934G>C	CA502402243	GAA	c.348G>C (p.Gly116=)
17	g.80104934G>T	CA502402244	GAA	c.348G>T (p.Gly116=)	ClinVar dbSNP
17	g.80104935C>A	CA401360846	GAA	c.349C>A (p.Leu117Met)
17	g.80104935C>G	CA401360848	GAA	c.349C>G (p.Leu117Val)
17	g.80104935C>T	CA502402245	GAA	c.349C>T (p.Leu117=)
17	g.80104936T>A	CA401360850	GAA	c.350T>A (p.Leu117Gln)
17	g.80104936T>C	CA401360852	GAA	c.350T>C (p.Leu117Pro)
17	g.80104936T>G	CA401360853	GAA	c.350T>G (p.Leu117Arg)
17	g.80104937G>A	CA8814854	GAA	c.351G>A (p.Leu117=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104937G>C	CA502402246	GAA	c.351G>C (p.Leu117=)
17	g.80104937G=	CA2277810731	GAA	c.351G= (p.Leu117=)
17	g.80104937G>T	CA502402247	GAA	c.351G>T (p.Leu117=)
17	g.80104938C>A	CA401360855	GAA	c.352C>A (p.Gln118Lys)
17	g.80104938C=	CA2277810732	GAA	c.352C= (p.Gln118=)
17	g.80104938C>G	CA401360857	GAA	c.352C>G (p.Gln118Glu)
17	g.80104938C>T	CA401360858	GAA	c.352C>T (p.Gln118Ter)	ClinVar dbSNP
17	g.80104939A=	CA2277810733	GAA	c.353A= (p.Gln118=)
17	g.80104939A>C	CA401360860	GAA	c.353A>C (p.Gln118Pro)	dbSNP
17	g.80104939A>G	CA401360861	GAA	c.353A>G (p.Gln118Arg)	dbSNP
17	g.80104939A>T	CA401360863	GAA	c.353A>T (p.Gln118Leu)
17	g.80104940G>A	CA502402248	GAA	c.354G>A (p.Gln118=)	ClinVar dbSNP gnomAD v4
17	g.80104940G>C	CA401360866	GAA	c.354G>C (p.Gln118His)
17	g.80104940G=	CA2277810734	GAA	c.354G= (p.Gln118=)
17	g.80104940G>T	CA401360864	GAA	c.354G>T (p.Gln118His)
17	g.80104941G>A	CA401360869	GAA	c.355G>A (p.Gly119Arg)	ClinVar dbSNP gnomAD v4
17	g.80104941G>C	CA401360870	GAA	c.355G>C (p.Gly119Arg)
17	g.80104941G=	CA2277810735	GAA	c.355G= (p.Gly119=)
17	g.80104941G>T	CA401360871	GAA	c.355G>T (p.Gly119Ter)	ClinVar dbSNP gnomAD v4
17	g.80104942G>A	CA401360873	GAA	c.356G>A (p.Gly119Glu)
17	g.80104942G>C	CA401360874	GAA	c.356G>C (p.Gly119Ala)
17	g.80104942G>T	CA401360876	GAA	c.356G>T (p.Gly119Val)
17	g.80104943A>C	CA502402249	GAA	c.357A>C (p.Gly119=)	ClinVar
17	g.80104943A>G	CA502402250	GAA	c.357A>G (p.Gly119=)
17	g.80104943A>T	CA502402251	GAA	c.357A>T (p.Gly119=)
17	g.80104944G>A	CA401360881	GAA	c.358G>A (p.Ala120Thr)
17	g.80104944G>C	CA401360880	GAA	c.358G>C (p.Ala120Pro)
17	g.80104944G>T	CA401360878	GAA	c.358G>T (p.Ala120Ser)	gnomAD v4
17	g.80104945C>A	CA401360883	GAA	c.359C>A (p.Ala120Asp)
17	g.80104945C=	CA2277810736	GAA	c.359C= (p.Ala120=)
17	g.80104945C>G	CA8814855	GAA	c.359C>G (p.Ala120Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104945C>T	CA401360885	GAA	c.359C>T (p.Ala120Val)	gnomAD v4
17	g.80104946C>A	CA502402252	GAA	c.360C>A (p.Ala120=)	gnomAD v4
17	g.80104946C>G	CA502402253	GAA	c.360C>G (p.Ala120=)
17	g.80104946C>T	CA502402254	GAA	c.360C>T (p.Ala120=)
17	g.80104947C>A	CA401360887	GAA	c.361C>A (p.Gln121Lys)
17	g.80104947C=	CA2277810737	GAA	c.361C= (p.Gln121=)
17	g.80104947C>G	CA401360889	GAA	c.361C>G (p.Gln121Glu)
17	g.80104947C>T	CA8814856	GAA	c.361C>T (p.Gln121Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104948A=	CA2277810738	GAA	c.362A= (p.Gln121=)
17	g.80104948A>C	CA401360891	GAA	c.362A>C (p.Gln121Pro)	dbSNP
17	g.80104948A>G	CA8814857	GAA	c.362A>G (p.Gln121Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104948A>T	CA401360893	GAA	c.362A>T (p.Gln121Leu)
17	g.80104949G>A	CA502402255	GAA	c.363G>A (p.Gln121=)
17	g.80104949G>C	CA401360895	GAA	c.363G>C (p.Gln121His)
17	g.80104949G>T	CA401360896	GAA	c.363G>T (p.Gln121His)	gnomAD v4
17	g.80104950A=	CA2277810740	GAA	c.364A= (p.Met122=)
17	g.80104950A>C	CA401360898	GAA	c.364A>C (p.Met122Leu)
17	g.80104950A>G	CA401360899	GAA	c.364A>G (p.Met122Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80104950A>T	CA401360901	GAA	c.364A>T (p.Met122Leu)
17	g.80104950_80104951delinsAT	CA2277810739	GAA	c.364_365delinsAT (p.Met122=)
17	g.80104951del	CA274330	GAA	c.365del (p.Met122ArgfsTer20)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80104951T>A	CA401360903	GAA	c.365T>A (p.Met122Lys)
17	g.80104951T>C	CA401360906	GAA	c.365T>C (p.Met122Thr)	gnomAD v4
17	g.80104951T>G	CA8814858	GAA	c.365T>G (p.Met122Arg)	dbSNP ExAC gnomAD v4
17	g.80104951T=	CA2277810741	GAA	c.365T= (p.Met122=)
17	g.80104952G>A	CA401360909	GAA	c.366G>A (p.Met122Ile)
17	g.80104952G>C	CA401360911	GAA	c.366G>C (p.Met122Ile)
17	g.80104952G>T	CA401360913	GAA	c.366G>T (p.Met122Ile)
17	g.80104953G>A	CA401360915	GAA	c.367G>A (p.Gly123Arg)	dbSNP gnomAD v2
17	g.80104953G>C	CA401360919	GAA	c.367G>C (p.Gly123Arg)
17	g.80104953G=	CA2277810742	GAA	c.367G= (p.Gly123=)
17	g.80104953G>T	CA401360917	GAA	c.367G>T (p.Gly123Trp)
17	g.80104954G>A	CA8814859	GAA	c.368G>A (p.Gly123Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104954G>C	CA401360922	GAA	c.368G>C (p.Gly123Ala)
17	g.80104954G=	CA2277810743	GAA	c.368G= (p.Gly123=)
17	g.80104954G>T	CA401360924	GAA	c.368G>T (p.Gly123Val)	ClinVar dbSNP
17	g.80104955G>A	CA8814860	GAA	c.369G>A (p.Gly123=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104955G>C	CA502402256	GAA	c.369G>C (p.Gly123=)
17	g.80104955G=	CA2277810744	GAA	c.369G= (p.Gly123=)
17	g.80104955G>T	CA502402257	GAA	c.369G>T (p.Gly123=)
17	g.80104957_80104967del	CA2695200347	GAA	c.371_381del (p.Gln124LeufsTer18)	ClinVar
17	g.80104956C>A	CA401360928	GAA	c.370C>A (p.Gln124Lys)	dbSNP
17	g.80104956C=	CA2277810745	GAA	c.370C= (p.Gln124=)
17	g.80104956C>G	CA401360930	GAA	c.370C>G (p.Gln124Glu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104956C>T	CA401360932	GAA	c.370C>T (p.Gln124Ter)
17	g.80104957A>C	CA401360934	GAA	c.371A>C (p.Gln124Pro)
17	g.80104957A>G	CA401360935	GAA	c.371A>G (p.Gln124Arg)
17	g.80104957A>T	CA401360937	GAA	c.371A>T (p.Gln124Leu)
17	g.80104958G>A	CA294887185	GAA	c.372G>A (p.Gln124=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104958G>C	CA401360938	GAA	c.372G>C (p.Gln124His)
17	g.80104958G=	CA2277810746	GAA	c.372G= (p.Gln124=)
17	g.80104958G>T	CA401360940	GAA	c.372G>T (p.Gln124His)
17	g.80104959C>A	CA401360944	GAA	c.373C>A (p.Pro125Thr)
17	g.80104959C>G	CA401360941	GAA	c.373C>G (p.Pro125Ala)
17	g.80104959C>T	CA401360942	GAA	c.373C>T (p.Pro125Ser)	gnomAD v4
17	g.80104961del	CA2810576312	GAA	c.375del (p.Trp126GlyfsTer16)
17	g.80104959_80104962delinsCCCT	CA2277810747	GAA	c.373_376delinsCCCT (p.Pro125=)
17	g.80104960C>A	CA401360945	GAA	c.374C>A (p.Pro125His)
17	g.80104960C>G	CA401360947	GAA	c.374C>G (p.Pro125Arg)
17	g.80104960C>T	CA401360949	GAA	c.374C>T (p.Pro125Leu)	gnomAD v4
17	g.80104960_80104962del	CA775508596	GAA	c.374_376del (p.Pro125_Trp126delinsArg)	dbSNP
17	g.80104961C>A	CA502402258	GAA	c.375C>A (p.Pro125=)
17	g.80104961C>G	CA502402260	GAA	c.375C>G (p.Pro125=)
17	g.80104961C>T	CA502402259	GAA	c.375C>T (p.Pro125=)	COSMIC
17	g.80104961_80104962del	CA913014078	GAA	c.375_376del (p.Trp126ValfsTer19)
17	g.80104961_80104962delinsCT	CA2277810748	GAA	c.375_376delinsCT (p.Pro125=)
17	g.80104962del	CA658824773	GAA	c.376del (p.Trp126GlyfsTer16)	ClinVar dbSNP
17	g.80104962T>A	CA401360951	GAA	c.376T>A (p.Trp126Arg)
17	g.80104962T>C	CA401360953	GAA	c.376T>C (p.Trp126Arg)	dbSNP gnomAD v2
17	g.80104962T>G	CA401360955	GAA	c.376T>G (p.Trp126Gly)	gnomAD v4
17	g.80104962T=	CA2277810749	GAA	c.376T= (p.Trp126=)
17	g.80104964_80104966del	CA913014079	GAA	c.378_380del (p.Trp126del)
17	g.80104963G>A	CA294887189	GAA	c.377G>A (p.Trp126Ter)	ClinVar dbSNP
17	g.80104963G>C	CA401360958	GAA	c.377G>C (p.Trp126Ser)	dbSNP gnomAD v4
17	g.80104963G=	CA2277810751	GAA	c.377G= (p.Trp126=)
17	g.80104963G>T	CA401360960	GAA	c.377G>T (p.Trp126Leu)
17	g.80104963_80104965delinsGGT	CA2277810750	GAA	c.377_379delinsGGT (p.Trp126=)
17	g.80104964G>A	CA401360961	GAA	c.378G>A (p.Trp126Ter)	ClinVar dbSNP
17	g.80104964G>C	CA401360963	GAA	c.378G>C (p.Trp126Cys)
17	g.80104964G=	CA2277810752	GAA	c.378G= (p.Trp126=)
17	g.80104964G>T	CA401360964	GAA	c.378G>T (p.Trp126Cys)	gnomAD v4
17	g.80104965_80104966del	CA658795227	GAA	c.379_380del (p.Cys127LeufsTer18)	ClinVar dbSNP gnomAD v4
17	g.80104965T>A	CA401360968	GAA	c.379T>A (p.Cys127Ser)
17	g.80104965T>C	CA401360970	GAA	c.379T>C (p.Cys127Arg)	gnomAD v4
17	g.80104965T>G	CA401360967	GAA	c.379T>G (p.Cys127Gly)
17	g.80104966G>A	CA401360975	GAA	c.380G>A (p.Cys127Tyr)
17	g.80104966G>C	CA401360972	GAA	c.380G>C (p.Cys127Ser)
17	g.80104966G>T	CA401360974	GAA	c.380G>T (p.Cys127Phe)	COSMIC
17	g.80104966_80104969delinsGCTT	CA2277810753	GAA	c.380_383delinsGCTT (p.Cys127=)
17	g.80104967C>A	CA401360977	GAA	c.381C>A (p.Cys127Ter)
17	g.80104967C=	CA2277810754	GAA	c.381C= (p.Cys127=)
17	g.80104967C>G	CA401360978	GAA	c.381C>G (p.Cys127Trp)
17	g.80104967C>T	CA502402261	GAA	c.381C>T (p.Cys127=)	ClinVar dbSNP
17	g.80104971_80104973del	CA986720965	GAA	c.385_387del (p.Phe129del)	dbSNP gnomAD v3 gnomAD v4
17	g.80104968T>A	CA401360980	GAA	c.382T>A (p.Phe128Ile)
17	g.80104968T>C	CA401360981	GAA	c.382T>C (p.Phe128Leu)
17	g.80104968T>G	CA401360983	GAA	c.382T>G (p.Phe128Val)	dbSNP gnomAD v4
17	g.80104968T=	CA2277810755	GAA	c.382T= (p.Phe128=)
17	g.80104969T>A	CA401360988	GAA	c.383T>A (p.Phe128Tyr)
17	g.80104969T>C	CA401360986	GAA	c.383T>C (p.Phe128Ser)	ClinVar dbSNP
17	g.80104969T>G	CA401360987	GAA	c.383T>G (p.Phe128Cys)
17	g.80104969T=	CA2277810756	GAA	c.383T= (p.Phe128=)
17	g.80104970C>A	CA401360990	GAA	c.384C>A (p.Phe128Leu)	gnomAD v4
17	g.80104970C=	CA2277810757	GAA	c.384C= (p.Phe128=)
17	g.80104970C>G	CA401360992	GAA	c.384C>G (p.Phe128Leu)
17	g.80104970C>T	CA294887195	GAA	c.384C>T (p.Phe128=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.80104971T>A	CA401360994	GAA	c.385T>A (p.Phe129Ile)
17	g.80104971T>C	CA401360996	GAA	c.385T>C (p.Phe129Leu)
17	g.80104971T>G	CA401360998	GAA	c.385T>G (p.Phe129Val)
17	g.80104972T>A	CA401360999	GAA	c.386T>A (p.Phe129Tyr)
17	g.80104972T>C	CA401361003	GAA	c.386T>C (p.Phe129Ser)
17	g.80104972T>G	CA401361001	GAA	c.386T>G (p.Phe129Cys)
17	g.80104973C>A	CA401361005	GAA	c.387C>A (p.Phe129Leu)
17	g.80104973C>G	CA401361006	GAA	c.387C>G (p.Phe129Leu)	gnomAD v4
17	g.80104973C>T	CA502402262	GAA	c.387C>T (p.Phe129=)
17	g.80104975del	CA2695200348	GAA	c.389del (p.Pro130HisfsTer12)	ClinVar
17	g.80104974C>A	CA401361008	GAA	c.388C>A (p.Pro130Thr)
17	g.80104974C=	CA2277810758	GAA	c.388C= (p.Pro130=)
17	g.80104974C>G	CA401361009	GAA	c.388C>G (p.Pro130Ala)
17	g.80104974C>T	CA8814861	GAA	c.388C>T (p.Pro130Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104975C>A	CA401361012	GAA	c.389C>A (p.Pro130Gln)
17	g.80104975C=	CA2277810759	GAA	c.389C= (p.Pro130=)
17	g.80104975C>G	CA401361014	GAA	c.389C>G (p.Pro130Arg)	ClinVar gnomAD v4
17	g.80104975C>T	CA8814862	GAA	c.389C>T (p.Pro130Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104976A=	CA2277810760	GAA	c.390A= (p.Pro130=)
17	g.80104976A>C	CA502402263	GAA	c.390A>C (p.Pro130=)	dbSNP gnomAD v4
17	g.80104976A>G	CA502402264	GAA	c.390A>G (p.Pro130=)	dbSNP gnomAD v3 gnomAD v4
17	g.80104976A>T	CA502402265	GAA	c.390A>T (p.Pro130=)
17	g.80104976dup	CA913014081	GAA	c.390dup (p.Pro131ThrfsTer15)
17	g.80104976_80104977delinsAC	CA2277810761	GAA	c.390_391delinsAC (p.Pro130=)
17	g.80104977C>A	CA401361016	GAA	c.391C>A (p.Pro131Thr)	dbSNP gnomAD v2 gnomAD v4
17	g.80104977C=	CA2277810762	GAA	c.391C= (p.Pro131=)
17	g.80104977C>G	CA401361018	GAA	c.391C>G (p.Pro131Ala)
17	g.80104977C>T	CA401361020	GAA	c.391C>T (p.Pro131Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.80104979del	CA16041882	GAA	c.393del (p.Ser132AlafsTer10)	ClinVar dbSNP
17	g.80104986_80104994dup	CA658824774	GAA	c.400_408dup (p.Tyr136_Lys137insProSerTyr)	ClinVar dbSNP
17	g.80104978C>A	CA401361023	GAA	c.392C>A (p.Pro131His)
17	g.80104978C>G	CA401361025	GAA	c.392C>G (p.Pro131Arg)
17	g.80104978C>T	CA401361026	GAA	c.392C>T (p.Pro131Leu)
17	g.80104979C>A	CA502402266	GAA	c.393C>A (p.Pro131=)
17	g.80104979C=	CA2277810763	GAA	c.393C= (p.Pro131=)
17	g.80104979C>G	CA8814863	GAA	c.393C>G (p.Pro131=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104979C>T	CA502402267	GAA	c.393C>T (p.Pro131=)	COSMIC
17	g.80104980A>C	CA401361029	GAA	c.394A>C (p.Ser132Arg)
17	g.80104980A>G	CA401361031	GAA	c.394A>G (p.Ser132Gly)	gnomAD v4 COSMIC
17	g.80104980A>T	CA401361032	GAA	c.394A>T (p.Ser132Cys)
17	g.80104981G>A	CA401361035	GAA	c.395G>A (p.Ser132Asn)	gnomAD v4
17	g.80104981G>C	CA8814864	GAA	c.395G>C (p.Ser132Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104981G=	CA2277810764	GAA	c.395G= (p.Ser132=)
17	g.80104981G>T	CA401361038	GAA	c.395G>T (p.Ser132Ile)
17	g.80104982C>A	CA401361040	GAA	c.396C>A (p.Ser132Arg)
17	g.80104982C>G	CA401361041	GAA	c.396C>G (p.Ser132Arg)	ClinVar dbSNP
17	g.80104982C>T	CA502402268	GAA	c.396C>T (p.Ser132=)
17	g.80104982dup	CA2695200349	GAA	c.396dup (p.Tyr133LeufsTer13)	ClinVar
17	g.80104983T>A	CA401361042	GAA	c.397T>A (p.Tyr133Asn)	dbSNP gnomAD v3 gnomAD v4
17	g.80104983T>C	CA401361044	GAA	c.397T>C (p.Tyr133His)	dbSNP gnomAD v4
17	g.80104983T>G	CA401361046	GAA	c.397T>G (p.Tyr133Asp)	gnomAD v4
17	g.80104983T=	CA2277810765	GAA	c.397T= (p.Tyr133=)
17	g.80104984A>C	CA401361048	GAA	c.398A>C (p.Tyr133Ser)
17	g.80104984A>G	CA401361052	GAA	c.398A>G (p.Tyr133Cys)
17	g.80104984A>T	CA401361050	GAA	c.398A>T (p.Tyr133Phe)
17	g.80104985C>A	CA401361056	GAA	c.399C>A (p.Tyr133Ter)	ClinVar dbSNP
17	g.80104985C=	CA2277810766	GAA	c.399C= (p.Tyr133=)
17	g.80104985C>G	CA401361058	GAA	c.399C>G (p.Tyr133Ter)
17	g.80104985C>T	CA502402269	GAA	c.399C>T (p.Tyr133=)	ClinVar gnomAD v4
17	g.80104986C>A	CA401361061	GAA	c.400C>A (p.Pro134Thr)
17	g.80104986C=	CA2277810767	GAA	c.400C= (p.Pro134=)
17	g.80104986C>G	CA401361063	GAA	c.400C>G (p.Pro134Ala)
17	g.80104986C>T	CA8814865	GAA	c.400C>T (p.Pro134Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104987C>A	CA401361069	GAA	c.401C>A (p.Pro134His)
17	g.80104987C=	CA2277810768	GAA	c.401C= (p.Pro134=)
17	g.80104987C>G	CA401361071	GAA	c.401C>G (p.Pro134Arg)	dbSNP
17	g.80104987C>T	CA401361074	GAA	c.401C>T (p.Pro134Leu)	COSMIC
17	g.80104988C>A	CA502402270	GAA	c.402C>A (p.Pro134=)	gnomAD v4
17	g.80104988C>G	CA502402273	GAA	c.402C>G (p.Pro134=)
17	g.80104988C>T	CA502402272	GAA	c.402C>T (p.Pro134=)
17	g.80104989A>C	CA401361077	GAA	c.403A>C (p.Ser135Arg)
17	g.80104989A>G	CA401361079	GAA	c.403A>G (p.Ser135Gly)	gnomAD v4
17	g.80104989A>T	CA401361080	GAA	c.403A>T (p.Ser135Cys)

Number of alleles fetched