Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.80104734_80107789del	CA658795223	GAA	c.148_859-11del	ClinVar
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)
17	g.80104990G>A	CA401361083	GAA	c.404G>A (p.Ser135Asn)	dbSNP gnomAD v3 gnomAD v4
17	g.80104990G>C	CA401361085	GAA	c.404G>C (p.Ser135Thr)
17	g.80104990G=	CA2277810769	GAA	c.404G= (p.Ser135=)
17	g.80104990G>T	CA401361081	GAA	c.404G>T (p.Ser135Ile)
17	g.80104991C>A	CA8814866	GAA	c.405C>A (p.Ser135Arg)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.80104991C=	CA2277810770	GAA	c.405C= (p.Ser135=)
17	g.80104991C>G	CA401361088	GAA	c.405C>G (p.Ser135Arg)
17	g.80104991C>T	CA502402274	GAA	c.405C>T (p.Ser135=)
17	g.80104992T>A	CA401361091	GAA	c.406T>A (p.Tyr136Asn)
17	g.80104992T>C	CA401361093	GAA	c.406T>C (p.Tyr136His)
17	g.80104992T>G	CA401361109	GAA	c.406T>G (p.Tyr136Asp)
17	g.80104993A>C	CA401361121	GAA	c.407A>C (p.Tyr136Ser)
17	g.80104993A>G	CA401361124	GAA	c.407A>G (p.Tyr136Cys)	ClinVar gnomAD v4
17	g.80104993A>T	CA401361128	GAA	c.407A>T (p.Tyr136Phe)
17	g.80104995_80105006del	CA2640275634	GAA	c.409_420del (p.Lys137_Asn140del)	gnomAD v4
17	g.80104994C>A	CA401361132	GAA	c.408C>A (p.Tyr136Ter)
17	g.80104994C=	CA2277810771	GAA	c.408C= (p.Tyr136=)
17	g.80104994C>G	CA401361133	GAA	c.408C>G (p.Tyr136Ter)	dbSNP gnomAD v4
17	g.80104994C>T	CA8814867	GAA	c.408C>T (p.Tyr136=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80104995A>C	CA401361140	GAA	c.409A>C (p.Lys137Gln)
17	g.80104995A>G	CA401361142	GAA	c.409A>G (p.Lys137Glu)
17	g.80104995A>T	CA401361144	GAA	c.409A>T (p.Lys137Ter)
17	g.80104996A>C	CA401361165	GAA	c.410A>C (p.Lys137Thr)
17	g.80104996A>G	CA401361159	GAA	c.410A>G (p.Lys137Arg)
17	g.80104996A>T	CA401361161	GAA	c.410A>T (p.Lys137Met)
17	g.80104997G>A	CA502402279	GAA	c.411G>A (p.Lys137=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.80104997G>C	CA401361167	GAA	c.411G>C (p.Lys137Asn)
17	g.80104997G=	CA2277810772	GAA	c.411G= (p.Lys137=)
17	g.80104997G>T	CA401361169	GAA	c.411G>T (p.Lys137Asn)
17	g.80104998C>A	CA401361172	GAA	c.412C>A (p.Leu138Met)	COSMIC
17	g.80104998C=	CA2277810773	GAA	c.412C= (p.Leu138=)
17	g.80104998C>G	CA8814868	GAA	c.412C>G (p.Leu138Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.80104998C>T	CA502402280	GAA	c.412C>T (p.Leu138=)	gnomAD v4
17	g.80104999T>A	CA401361175	GAA	c.413T>A (p.Leu138Gln)
17	g.80104999T>C	CA401361177	GAA	c.413T>C (p.Leu138Pro)
17	g.80104999T>G	CA401361179	GAA	c.413T>G (p.Leu138Arg)
17	g.80105000G>A	CA502402284	GAA	c.414G>A (p.Leu138=)	ClinVar
17	g.80105000G>C	CA502402285	GAA	c.414G>C (p.Leu138=)
17	g.80105000G>T	CA502402286	GAA	c.414G>T (p.Leu138=)
17	g.80105001G>A	CA294887228	GAA	c.415G>A (p.Glu139Lys)	ClinVar dbSNP gnomAD v4
17	g.80105001G>C	CA401361185	GAA	c.415G>C (p.Glu139Gln)
17	g.80105001G=	CA2277810774	GAA	c.415G= (p.Glu139=)
17	g.80105001G>T	CA401361188	GAA	c.415G>T (p.Glu139Ter)
17	g.80105002A>C	CA401361189	GAA	c.416A>C (p.Glu139Ala)
17	g.80105002A>G	CA401361192	GAA	c.416A>G (p.Glu139Gly)
17	g.80105002A>T	CA401361195	GAA	c.416A>T (p.Glu139Val)
17	g.80105003G>A	CA502402287	GAA	c.417G>A (p.Glu139=)
17	g.80105003G>C	CA401361199	GAA	c.417G>C (p.Glu139Asp)
17	g.80105003G>T	CA401361203	GAA	c.417G>T (p.Glu139Asp)
17	g.80105004A>C	CA401361206	GAA	c.418A>C (p.Asn140His)
17	g.80105004A>G	CA401361209	GAA	c.418A>G (p.Asn140Asp)	gnomAD v4
17	g.80105004A>T	CA401361212	GAA	c.418A>T (p.Asn140Tyr)
17	g.80105005A>C	CA401361216	GAA	c.419A>C (p.Asn140Thr)
17	g.80105005A>G	CA401361219	GAA	c.419A>G (p.Asn140Ser)
17	g.80105005A>T	CA401361221	GAA	c.419A>T (p.Asn140Ile)	ClinVar
17	g.80105006C>A	CA8814869	GAA	c.420C>A (p.Asn140Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105006C=	CA2277810775	GAA	c.420C= (p.Asn140=)
17	g.80105006C>G	CA401361226	GAA	c.420C>G (p.Asn140Lys)
17	g.80105006C>T	CA294887240	GAA	c.420C>T (p.Asn140=)	dbSNP
17	g.80105007C>A	CA401361229	GAA	c.421C>A (p.Leu141Met)	ClinVar dbSNP
17	g.80105007C=	CA2277810776	GAA	c.421C= (p.Leu141=)
17	g.80105007C>G	CA401361231	GAA	c.421C>G (p.Leu141Val)	gnomAD v4
17	g.80105007C>T	CA502402289	GAA	c.421C>T (p.Leu141=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.80105008T>A	CA401361236	GAA	c.422T>A (p.Leu141Gln)
17	g.80105008T>C	CA401361238	GAA	c.422T>C (p.Leu141Pro)
17	g.80105008T>G	CA401361241	GAA	c.422T>G (p.Leu141Arg)
17	g.80105009G>A	CA502402292	GAA	c.423G>A (p.Leu141=)	ClinVar
17	g.80105009G>C	CA502402294	GAA	c.423G>C (p.Leu141=)
17	g.80105009G>T	CA502402293	GAA	c.423G>T (p.Leu141=)	ClinVar dbSNP
17	g.80105010_80105026del	CA658795228	GAA	c.424_440del (p.Ser142LeufsTer29)	ClinVar
17	g.80105010A>C	CA401361247	GAA	c.424A>C (p.Ser142Arg)
17	g.80105010A>G	CA401361251	GAA	c.424A>G (p.Ser142Gly)
17	g.80105010A>T	CA401361244	GAA	c.424A>T (p.Ser142Cys)

Number of alleles fetched