Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.49459066T>A	CA2679047392	MMUT	c.385+16A>T (n.385+16A>T)	gnomAD v4
6	g.49459066T>C	CA2532368452	MMUT	c.385+16A>G (n.385+16A>G)
6	g.49459067A=	CA1627396408	MMUT	c.385+15T= (n.385+15T=)
6	g.49459067A>C	CA3847130	MMUT	c.385+15T>G (n.385+15T>G)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49459068C=	CA1627396411	MMUT	c.385+14G= (n.385+14G=)
6	g.49459068C>T	CA220550	MMUT	c.385+14G>A (n.385+14G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49459071T>G	CA3847131	MMUT	c.385+11A>C (n.385+11A>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49459071T=	CA1627396414	MMUT	c.385+11A= (n.385+11A=)
6	g.49459072A=	CA1627396416	MMUT	c.385+10T= (n.385+10T=)
6	g.49459072A>C	CA1088813533	MMUT	c.385+10T>G (n.385+10T>G)	dbSNP gnomAD v3 gnomAD v4
6	g.49459073A=	CA1627396421	MMUT	c.385+9T= (n.385+9T=)
6	g.49459073A>G	CA235523	MMUT	c.385+9T>C (n.385+9T>C)	ClinVar dbSNP gnomAD v4
6	g.49459076T>C	CA566931434	MMUT	c.385+6A>G (n.385+6A>G)	dbSNP gnomAD v2 gnomAD v4
6	g.49459076T=	CA1627396424	MMUT	c.385+6A= (n.385+6A=)
6	g.49459077C>A	CA2528531386	MMUT	c.385+5G>T (n.385+5G>T)
6	g.49459077C=	CA1627396427	MMUT	c.385+5G= (n.385+5G=)
6	g.49459077C>T	CA566931435	MMUT	c.385+5G>A (n.385+5G>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.49459078_49459079insACCCTTA	CA2695206693	MMUT	c.385+3_385+4insTAAGGGT (n.385+3_385+4insTAAGGGT)
6	g.49459080A=	CA1627396441	MMUT	c.385+2T= (n.385+2T=)
6	g.49459080A>C	CA364404844	MMUT	c.385+2T>G (n.385+2T>G)
6	g.49459080A>G	CA364404845	MMUT	c.385+2T>C (n.385+2T>C)	ClinVar dbSNP gnomAD v4
6	g.49459080A>T	CA364404846	MMUT	c.385+2T>A (n.385+2T>A)	dbSNP gnomAD v3 gnomAD v4
6	g.49459081C>A	CA364404847	MMUT	c.385+1G>T (n.385+1G>T)
6	g.49459081C=	CA1627396446	MMUT	c.385+1G= (n.385+1G=)
6	g.49459081C>G	CA364404848	MMUT	c.385+1G>C (n.385+1G>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.49459081C>T	CA364404849	MMUT	c.385+1G>A (n.385+1G>A)
6	g.49459083del	CA2578675233	MMUT	c.385+1del
6	g.49459082C>A	CA364404850	MMUT	c.385G>T (p.Ala129Ser)	gnomAD v4
6	g.49459082C>G	CA364404851	MMUT	c.385G>C (p.Ala129Pro)
6	g.49459082C>T	CA364404852	MMUT	c.385G>A (p.Ala129Thr)
6	g.49459087_49459098del	CA2695206694	MMUT	c.374_385del (p.Asp125_Lys128del)
6	g.49459083C>A	CA364404853	MMUT	c.384G>T (p.Lys128Asn)	COSMIC
6	g.49459083C=	CA1627396449	MMUT	c.384G= (p.Lys128=)
6	g.49459083C>G	CA364404854	MMUT	c.384G>C (p.Lys128Asn)	dbSNP
6	g.49459083C>T	CA450399542	MMUT	c.384G>A (p.Lys128=)	dbSNP gnomAD v3 gnomAD v4
6	g.49459084T>A	CA364404856	MMUT	c.383A>T (p.Lys128Met)
6	g.49459084T>C	CA364404857	MMUT	c.383A>G (p.Lys128Arg)	gnomAD v4
6	g.49459084T>G	CA364404855	MMUT	c.383A>C (p.Lys128Thr)	dbSNP
6	g.49459084T=	CA1627396452	MMUT	c.383A= (p.Lys128=)
6	g.49459085T>A	CA364404858	MMUT	c.382A>T (p.Lys128Ter)
6	g.49459085T>C	CA364404859	MMUT	c.382A>G (p.Lys128Glu)
6	g.49459085T>G	CA364404860	MMUT	c.382A>C (p.Lys128Gln)
6	g.49459086A>C	CA364404861	MMUT	c.381T>G (p.Ile127Met)
6	g.49459086A>G	CA450399550	MMUT	c.381T>C (p.Ile127=)
6	g.49459086A>T	CA450399552	MMUT	c.381T>A (p.Ile127=)
6	g.49459087A>C	CA364404862	MMUT	c.380T>G (p.Ile127Ser)
6	g.49459087A>G	CA364404863	MMUT	c.380T>C (p.Ile127Thr)
6	g.49459087A>T	CA364404864	MMUT	c.380T>A (p.Ile127Asn)
6	g.49459088T>A	CA364404865	MMUT	c.379A>T (p.Ile127Phe)
6	g.49459088T>C	CA364404867	MMUT	c.379A>G (p.Ile127Val)	dbSNP gnomAD v3 gnomAD v4
6	g.49459088T>G	CA364404866	MMUT	c.379A>C (p.Ile127Leu)
6	g.49459088T=	CA1627396458	MMUT	c.379A= (p.Ile127=)
6	g.49459089G>A	CA450399560	MMUT	c.378C>T (p.Asn126=)	gnomAD v4
6	g.49459089G>C	CA364404868	MMUT	c.378C>G (p.Asn126Lys)
6	g.49459089G=	CA1627396466	MMUT	c.378C= (p.Asn126=)
6	g.49459089G>T	CA10575884	MMUT	c.378C>A (p.Asn126Lys)	ClinVar dbSNP
6	g.49459090T>A	CA364404869	MMUT	c.377A>T (p.Asn126Ile)
6	g.49459090T>C	CA364404870	MMUT	c.377A>G (p.Asn126Ser)	gnomAD v4
6	g.49459090T>G	CA364404871	MMUT	c.377A>C (p.Asn126Thr)
6	g.49459091dup	CA2695206695	MMUT	c.377dup (p.Asn126LysfsTer3)
6	g.49459091T>A	CA364404872	MMUT	c.376A>T (p.Asn126Tyr)
6	g.49459091T>C	CA364404874	MMUT	c.376A>G (p.Asn126Asp)	dbSNP
6	g.49459091T>G	CA364404873	MMUT	c.376A>C (p.Asn126His)	gnomAD v4
6	g.49459091T=	CA1627396472	MMUT	c.376A= (p.Asn126=)
6	g.49459092G>A	CA450399568	MMUT	c.375C>T (p.Asp125=)
6	g.49459092G>C	CA364404875	MMUT	c.375C>G (p.Asp125Glu)
6	g.49459092G=	CA1627396475	MMUT	c.375C= (p.Asp125=)
6	g.49459092G>T	CA364404876	MMUT	c.375C>A (p.Asp125Glu)
6	g.49459093T>A	CA364404877	MMUT	c.374A>T (p.Asp125Val)
6	g.49459093T>C	CA364404878	MMUT	c.374A>G (p.Asp125Gly)
6	g.49459093T>G	CA364404879	MMUT	c.374A>C (p.Asp125Ala)
6	g.49459094_49459096dup	CA312788	MMUT	c.372_374dup (p.Lys124_Asp125insGlu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.49459094C>A	CA364404880	MMUT	c.373G>T (p.Asp125Tyr)
6	g.49459094C=	CA1627396485	MMUT	c.373G= (p.Asp125=)
6	g.49459094C>G	CA364404881	MMUT	c.373G>C (p.Asp125His)
6	g.49459094C>T	CA364404882	MMUT	c.373G>A (p.Asp125Asn)	dbSNP gnomAD v2 gnomAD v4
6	g.49459095C>A	CA364404883	MMUT	c.372G>T (p.Lys124Asn)
6	g.49459095C>G	CA364404884	MMUT	c.372G>C (p.Lys124Asn)
6	g.49459095C>T	CA450399584	MMUT	c.372G>A (p.Lys124=)
6	g.49459096T>A	CA364404885	MMUT	c.371A>T (p.Lys124Met)
6	g.49459096T>C	CA364404887	MMUT	c.371A>G (p.Lys124Arg)
6	g.49459096T>G	CA364404886	MMUT	c.371A>C (p.Lys124Thr)
6	g.49459097T>A	CA364404888	MMUT	c.370A>T (p.Lys124Ter)
6	g.49459097T>C	CA3847132	MMUT	c.370A>G (p.Lys124Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49459097T>G	CA364404889	MMUT	c.370A>C (p.Lys124Gln)
6	g.49459097T=	CA1627396490	MMUT	c.370A= (p.Lys124=)
6	g.49459098A>C	CA364404890	MMUT	c.369T>G (p.Tyr123Ter)	gnomAD v4
6	g.49459098A>G	CA450399587	MMUT	c.369T>C (p.Tyr123=)	gnomAD v4
6	g.49459098A>T	CA364404891	MMUT	c.369T>A (p.Tyr123Ter)
6	g.49459099T>A	CA364404892	MMUT	c.368A>T (p.Tyr123Phe)
6	g.49459099T>C	CA364404893	MMUT	c.368A>G (p.Tyr123Cys)	dbSNP gnomAD v2 gnomAD v4
6	g.49459099T>G	CA364404894	MMUT	c.368A>C (p.Tyr123Ser)
6	g.49459099T=	CA1627396494	MMUT	c.368A= (p.Tyr123=)
6	g.49459100A>C	CA364404895	MMUT	c.367T>G (p.Tyr123Asp)
6	g.49459100A>G	CA364404896	MMUT	c.367T>C (p.Tyr123His)
6	g.49459100A>T	CA364404897	MMUT	c.367T>A (p.Tyr123Asn)
6	g.49459101G>A	CA450399601	MMUT	c.366C>T (p.Phe122=)
6	g.49459101G>C	CA3847133	MMUT	c.366C>G (p.Phe122Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49459101G=	CA1627396497	MMUT	c.366C= (p.Phe122=)
6	g.49459101G>T	CA364404898	MMUT	c.366C>A (p.Phe122Leu)	gnomAD v4
6	g.49459102A>C	CA364404901	MMUT	c.365T>G (p.Phe122Cys)
6	g.49459102A>G	CA364404899	MMUT	c.365T>C (p.Phe122Ser)
6	g.49459102A>T	CA364404900	MMUT	c.365T>A (p.Phe122Tyr)
6	g.49459103A=	CA1627396501	MMUT	c.364T= (p.Phe122=)
6	g.49459103A>C	CA364404902	MMUT	c.364T>G (p.Phe122Val)
6	g.49459103A>G	CA364404903	MMUT	c.364T>C (p.Phe122Leu)
6	g.49459103A>T	CA364404904	MMUT	c.364T>A (p.Phe122Ile)	dbSNP gnomAD v3 gnomAD v4
6	g.49459104C>A	CA364404905	MMUT	c.363G>T (p.Lys121Asn)
6	g.49459104C=	CA1627396506	MMUT	c.363G= (p.Lys121=)
6	g.49459104C>G	CA364404906	MMUT	c.363G>C (p.Lys121Asn)
6	g.49459104C>T	CA3847134	MMUT	c.363G>A (p.Lys121=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49459105T>A	CA364404907	MMUT	c.362A>T (p.Lys121Met)
6	g.49459105T>C	CA364404908	MMUT	c.362A>G (p.Lys121Arg)
6	g.49459105T>G	CA364404909	MMUT	c.362A>C (p.Lys121Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.49459105T=	CA1627396509	MMUT	c.362A= (p.Lys121=)
6	g.49459106dup	CA913110635	MMUT	c.362dup (p.Phe122ValfsTer3)
6	g.49459106T>A	CA364404910	MMUT	c.361A>T (p.Lys121Ter)
6	g.49459106T>C	CA364404911	MMUT	c.361A>G (p.Lys121Glu)
6	g.49459106T>G	CA364404912	MMUT	c.361A>C (p.Lys121Gln)	gnomAD v4
6	g.49459106T=	CA1627396513	MMUT	c.361A= (p.Lys121=)
6	g.49459107A>C	CA364404913	MMUT	c.360T>G (p.Asn120Lys)	ClinVar
6	g.49459107A>G	CA450399619	MMUT	c.360T>C (p.Asn120=)
6	g.49459107A>T	CA364404914	MMUT	c.360T>A (p.Asn120Lys)
6	g.49459107dup	CA658823265	MMUT	c.360dup (p.Lys121Ter)	ClinVar dbSNP
6	g.49459108T>A	CA364404915	MMUT	c.359A>T (p.Asn120Ile)
6	g.49459108T>C	CA3847135	MMUT	c.359A>G (p.Asn120Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49459108T>G	CA364404916	MMUT	c.359A>C (p.Asn120Thr)
6	g.49459108T=	CA1627396519	MMUT	c.359A= (p.Asn120=)
6	g.49459109T>A	CA364404917	MMUT	c.358A>T (p.Asn120Tyr)
6	g.49459109T>C	CA364404919	MMUT	c.358A>G (p.Asn120Asp)
6	g.49459109T>G	CA364404918	MMUT	c.358A>C (p.Asn120His)
6	g.49459110G>A	CA450399633	MMUT	c.357C>T (p.Ser119=)
6	g.49459110G>C	CA364404920	MMUT	c.357C>G (p.Ser119Arg)
6	g.49459110G>T	CA364404921	MMUT	c.357C>A (p.Ser119Arg)
6	g.49459111C>A	CA364404922	MMUT	c.356G>T (p.Ser119Ile)
6	g.49459111C=	CA1627396526	MMUT	c.356G= (p.Ser119=)
6	g.49459111C>G	CA364404923	MMUT	c.356G>C (p.Ser119Thr)
6	g.49459111C>T	CA364404924	MMUT	c.356G>A (p.Ser119Asn)	dbSNP gnomAD v3 gnomAD v4
6	g.49459112T>A	CA364404925	MMUT	c.355A>T (p.Ser119Cys)
6	g.49459112T>C	CA364404926	MMUT	c.355A>G (p.Ser119Gly)
6	g.49459112T>G	CA364404927	MMUT	c.355A>C (p.Ser119Arg)
6	g.49459113T>A	CA364404928	MMUT	c.354A>T (p.Glu118Asp)
6	g.49459113T>C	CA450399642	MMUT	c.354A>G (p.Glu118=)
6	g.49459113T>G	CA364404929	MMUT	c.354A>C (p.Glu118Asp)
6	g.49459114T>A	CA364404930	MMUT	c.353A>T (p.Glu118Val)
6	g.49459114T>C	CA364404931	MMUT	c.353A>G (p.Glu118Gly)
6	g.49459114T>G	CA364404932	MMUT	c.353A>C (p.Glu118Ala)
6	g.49459115C>A	CA364404935	MMUT	c.352G>T (p.Glu118Ter)
6	g.49459115C>G	CA364404934	MMUT	c.352G>C (p.Glu118Gln)
6	g.49459115C>T	CA364404933	MMUT	c.352G>A (p.Glu118Lys)
6	g.49459116T>A	CA364404936	MMUT	c.351A>T (p.Glu117Asp)
6	g.49459116T>C	CA450399649	MMUT	c.351A>G (p.Glu117=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.49459116T>G	CA364404937	MMUT	c.351A>C (p.Glu117Asp)
6	g.49459116T=	CA1627396528	MMUT	c.351A= (p.Glu117=)
6	g.49459117T>A	CA364404938	MMUT	c.350A>T (p.Glu117Val)
6	g.49459117T>C	CA364404939	MMUT	c.350A>G (p.Glu117Gly)
6	g.49459117T>G	CA364404940	MMUT	c.350A>C (p.Glu117Ala)
6	g.49459118C>A	CA115264	MMUT	c.349G>T (p.Glu117Ter)	ClinVar dbSNP gnomAD v4
6	g.49459118C=	CA1627396534	MMUT	c.349G= (p.Glu117=)
6	g.49459118C>G	CA364404941	MMUT	c.349G>C (p.Glu117Gln)
6	g.49459118C>T	CA364404942	MMUT	c.349G>A (p.Glu117Lys)	dbSNP gnomAD v4
6	g.49459119del	CA2770993585	MMUT	c.349del (p.Glu117LysfsTer?)
6	g.49459119C>A	CA450399655	MMUT	c.348G>T (p.Val116=)
6	g.49459119C>G	CA450399656	MMUT	c.348G>C (p.Val116=)
6	g.49459119C>T	CA450399657	MMUT	c.348G>A (p.Val116=)
6	g.49459120A>C	CA364404943	MMUT	c.347T>G (p.Val116Gly)
6	g.49459120A>G	CA364404944	MMUT	c.347T>C (p.Val116Ala)
6	g.49459120A>T	CA364404945	MMUT	c.347T>A (p.Val116Glu)
6	g.49459121C>A	CA364404948	MMUT	c.346G>T (p.Val116Leu)
6	g.49459121C>G	CA364404947	MMUT	c.346G>C (p.Val116Leu)
6	g.49459121C>T	CA364404946	MMUT	c.346G>A (p.Val116Met)	gnomAD v4
6	g.49459122A=	CA1627396540	MMUT	c.345T= (p.Thr115=)
6	g.49459122A>C	CA450399663	MMUT	c.345T>G (p.Thr115=)
6	g.49459122A>G	CA138800930	MMUT	c.345T>C (p.Thr115=)	dbSNP gnomAD v4
6	g.49459122A>T	CA138800931	MMUT	c.345T>A (p.Thr115=)	ClinVar dbSNP
6	g.49459123G>A	CA364404949	MMUT	c.344C>T (p.Thr115Ile)	gnomAD v4
6	g.49459123G>C	CA364404950	MMUT	c.344C>G (p.Thr115Ser)
6	g.49459123G>T	CA364404951	MMUT	c.344C>A (p.Thr115Asn)
6	g.49459124T>A	CA364404952	MMUT	c.343A>T (p.Thr115Ser)
6	g.49459124T>C	CA364404953	MMUT	c.343A>G (p.Thr115Ala)
6	g.49459124T>G	CA364404954	MMUT	c.343A>C (p.Thr115Pro)
6	g.49459125A=	CA1627396545	MMUT	c.342T= (p.Ser114=)
6	g.49459125A>C	CA364404955	MMUT	c.342T>G (p.Ser114Arg)
6	g.49459125A>G	CA3847136	MMUT	c.342T>C (p.Ser114=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49459125A>T	CA364404956	MMUT	c.342T>A (p.Ser114Arg)
6	g.49459126C>A	CA364404957	MMUT	c.341G>T (p.Ser114Ile)
6	g.49459126C>G	CA364404958	MMUT	c.341G>C (p.Ser114Thr)
6	g.49459126C>T	CA364404959	MMUT	c.341G>A (p.Ser114Asn)
6	g.49459127T>A	CA364404962	MMUT	c.340A>T (p.Ser114Cys)
6	g.49459127T>C	CA364404960	MMUT	c.340A>G (p.Ser114Gly)
6	g.49459127T>G	CA364404961	MMUT	c.340A>C (p.Ser114Arg)
6	g.49459128A=	CA1627396547	MMUT	c.339T= (p.Phe113=)
6	g.49459128A>C	CA364404963	MMUT	c.339T>G (p.Phe113Leu)
6	g.49459128A>G	CA450399682	MMUT	c.339T>C (p.Phe113=)	dbSNP
6	g.49459128A>T	CA364404964	MMUT	c.339T>A (p.Phe113Leu)
6	g.49459129A>C	CA364404965	MMUT	c.338T>G (p.Phe113Cys)
6	g.49459129A>G	CA364404966	MMUT	c.338T>C (p.Phe113Ser)
6	g.49459129A>T	CA364404967	MMUT	c.338T>A (p.Phe113Tyr)
6	g.49459130A>C	CA364404968	MMUT	c.337T>G (p.Phe113Val)
6	g.49459130A>G	CA364404969	MMUT	c.337T>C (p.Phe113Leu)
6	g.49459130A>T	CA364404970	MMUT	c.337T>A (p.Phe113Ile)
6	g.49459131A>C	CA450399690	MMUT	c.336T>G (p.Gly112=)	gnomAD v4
6	g.49459131A>G	CA450399692	MMUT	c.336T>C (p.Gly112=)	ClinVar
6	g.49459131A>T	CA450399694	MMUT	c.336T>A (p.Gly112=)
6	g.49459132C>A	CA364404971	MMUT	c.335G>T (p.Gly112Val)
6	g.49459132C>G	CA364404972	MMUT	c.335G>C (p.Gly112Ala)
6	g.49459132C>T	CA364404973	MMUT	c.335G>A (p.Gly112Asp)
6	g.49459133C>A	CA364404975	MMUT	c.334G>T (p.Gly112Cys)	gnomAD v4
6	g.49459133C>G	CA364404976	MMUT	c.334G>C (p.Gly112Arg)
6	g.49459133C>T	CA364404974	MMUT	c.334G>A (p.Gly112Ser)
6	g.49459134A=	CA1627396552	MMUT	c.333T= (p.Ala111=)
6	g.49459134A>C	CA450399708	MMUT	c.333T>G (p.Ala111=)
6	g.49459134A>G	CA450399712	MMUT	c.333T>C (p.Ala111=)	ClinVar dbSNP gnomAD v2
6	g.49459134A>T	CA450399713	MMUT	c.333T>A (p.Ala111=)
6	g.49459135G>A	CA364404979	MMUT	c.332C>T (p.Ala111Val)
6	g.49459135G>C	CA364404977	MMUT	c.332C>G (p.Ala111Gly)
6	g.49459135G>T	CA364404978	MMUT	c.332C>A (p.Ala111Asp)
6	g.49459136C>A	CA364404980	MMUT	c.331G>T (p.Ala111Ser)
6	g.49459136C>G	CA364404981	MMUT	c.331G>C (p.Ala111Pro)	gnomAD v4
6	g.49459136C>T	CA364404982	MMUT	c.331G>A (p.Ala111Thr)
6	g.49459137A=	CA1627396559	MMUT	c.330T= (p.Tyr110=)
6	g.49459137A>C	CA10575885	MMUT	c.330T>G (p.Tyr110Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.49459137A>G	CA450399722	MMUT	c.330T>C (p.Tyr110=)	ClinVar dbSNP
6	g.49459137A>T	CA364404983	MMUT	c.330T>A (p.Tyr110Ter)
6	g.49459138T>A	CA364404984	MMUT	c.329A>T (p.Tyr110Phe)
6	g.49459138T>C	CA312775	MMUT	c.329A>G (p.Tyr110Cys)	ClinVar dbSNP
6	g.49459138T>G	CA364404985	MMUT	c.329A>C (p.Tyr110Ser)
6	g.49459138T=	CA1627396571	MMUT	c.329A= (p.Tyr110=)
6	g.49459139A>C	CA364404986	MMUT	c.328T>G (p.Tyr110Asp)
6	g.49459139A>G	CA364404987	MMUT	c.328T>C (p.Tyr110His)	gnomAD v4
6	g.49459139A>T	CA364404988	MMUT	c.328T>A (p.Tyr110Asn)
6	g.49459140C>A	CA364404990	MMUT	c.327G>T (p.Gln109His)
6	g.49459140C=	CA1627396575	MMUT	c.327G= (p.Gln109=)
6	g.49459140C>G	CA364404989	MMUT	c.327G>C (p.Gln109His)
6	g.49459140C>T	CA3847137	MMUT	c.327G>A (p.Gln109=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49459142_49459160del	CA2695206696	MMUT	c.309_327del (p.Arg103SerfsTer?)
6	g.49459141T>A	CA364404991	MMUT	c.326A>T (p.Gln109Leu)
6	g.49459141T>C	CA364404992	MMUT	c.326A>G (p.Gln109Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.49459141T>G	CA364404993	MMUT	c.326A>C (p.Gln109Pro)
6	g.49459141T=	CA1627396581	MMUT	c.326A= (p.Gln109=)
6	g.49459142G>A	CA364404994	MMUT	c.325C>T (p.Gln109Ter)
6	g.49459142G>C	CA364404995	MMUT	c.325C>G (p.Gln109Glu)
6	g.49459142G>T	CA364404996	MMUT	c.325C>A (p.Gln109Lys)
6	g.49459143G>A	CA450399739	MMUT	c.324C>T (p.Arg108=)	gnomAD v4
6	g.49459143G>C	CA450399745	MMUT	c.324C>G (p.Arg108=)
6	g.49459143G>T	CA450399743	MMUT	c.324C>A (p.Arg108=)
6	g.49459144C>A	CA364404997	MMUT	c.323G>T (p.Arg108Leu)	ClinVar gnomAD v4
6	g.49459144C=	CA1627396592	MMUT	c.323G= (p.Arg108=)
6	g.49459144C>G	CA364404998	MMUT	c.323G>C (p.Arg108Pro)
6	g.49459144C>T	CA235522	MMUT	c.323G>A (p.Arg108His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.49459144_49459145delinsCG	CA1627396587	MMUT	c.322_323delinsCG (p.Arg108=)
6	g.49459145G>A	CA249732	MMUT	c.322C>T (p.Arg108Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49459145G>C	CA364404999	MMUT	c.322C>G (p.Arg108Gly)	ClinVar dbSNP gnomAD v4
6	g.49459145G=	CA1627396604	MMUT	c.322C= (p.Arg108=)
6	g.49459145G>T	CA364405000	MMUT	c.322C>A (p.Arg108Ser)
6	g.49459146del	CA566931455	MMUT	c.322del (p.Arg108AlafsTer?)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.49459146G>A	CA3847138	MMUT	c.321C>T (p.Ile107=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.49459146G>C	CA364405001	MMUT	c.321C>G (p.Ile107Met)
6	g.49459146G=	CA1627396613	MMUT	c.321C= (p.Ile107=)
6	g.49459146G>T	CA450399754	MMUT	c.321C>A (p.Ile107=)	dbSNP
6	g.49459147A>C	CA364405002	MMUT	c.320T>G (p.Ile107Ser)
6	g.49459147A>G	CA364405003	MMUT	c.320T>C (p.Ile107Thr)
6	g.49459147A>T	CA364405004	MMUT	c.320T>A (p.Ile107Asn)
6	g.49459148T>A	CA364405005	MMUT	c.319A>T (p.Ile107Phe)	gnomAD v4
6	g.49459148T>C	CA364405006	MMUT	c.319A>G (p.Ile107Val)	gnomAD v4
6	g.49459148T>G	CA364405007	MMUT	c.319A>C (p.Ile107Leu)
6	g.49459148_49459149delinsTG	CA1627396617	MMUT	c.318_319delinsCA (p.Thr106=)
6	g.49459149G>A	CA450609505	MMUT	c.318C>T (p.Thr106=)	gnomAD v4
6	g.49459149G>C	CA450609506	MMUT	c.318C>G (p.Thr106=)
6	g.49459149G>T	CA450609507	MMUT	c.318C>A (p.Thr106=)
6	g.49459150del	CA825483786	MMUT	c.318del (p.Ile107SerfsTer?)	dbSNP gnomAD v3 gnomAD v4
6	g.49459150G>A	CA364405010	MMUT	c.317C>T (p.Thr106Ile)	ClinVar dbSNP
6	g.49459150G>C	CA364405009	MMUT	c.317C>G (p.Thr106Ser)
6	g.49459150G=	CA1627396628	MMUT	c.317C= (p.Thr106=)
6	g.49459150G>T	CA364405008	MMUT	c.317C>A (p.Thr106Asn)
6	g.49459151T>A	CA364405011	MMUT	c.316A>T (p.Thr106Ser)
6	g.49459151T>C	CA364405012	MMUT	c.316A>G (p.Thr106Ala)
6	g.49459151T>G	CA364405013	MMUT	c.316A>C (p.Thr106Pro)
6	g.49459152C>A	CA364405014	MMUT	c.315G>T (p.Trp105Cys)
6	g.49459152C>G	CA364405015	MMUT	c.315G>C (p.Trp105Cys)
6	g.49459152C>T	CA364405016	MMUT	c.315G>A (p.Trp105Ter)	gnomAD v4
6	g.49459153C>A	CA364405017	MMUT	c.314G>T (p.Trp105Leu)	gnomAD v4
6	g.49459153C>G	CA364405019	MMUT	c.314G>C (p.Trp105Ser)
6	g.49459153C>T	CA364405018	MMUT	c.314G>A (p.Trp105Ter)
6	g.49459154A=	CA1627396630	MMUT	c.313T= (p.Trp105=)
6	g.49459154A>C	CA364405020	MMUT	c.313T>G (p.Trp105Gly)
6	g.49459154A>G	CA249727	MMUT	c.313T>C (p.Trp105Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.49459154A>T	CA364405021	MMUT	c.313T>A (p.Trp105Arg)
6	g.49459154_49459155delinsAG	CA1627396633	MMUT	c.312_313delinsCT (p.Pro104=)
6	g.49459155G>A	CA450609511	MMUT	c.312C>T (p.Pro104=)	gnomAD v4
6	g.49459155G>C	CA450609512	MMUT	c.312C>G (p.Pro104=)	gnomAD v4
6	g.49459155G>T	CA450609513	MMUT	c.312C>A (p.Pro104=)
6	g.49459157del	CA16618295	MMUT	c.312del (p.Trp105GlyfsTer?)	ClinVar dbSNP gnomAD v4
6	g.49459156G>A	CA364405022	MMUT	c.311C>T (p.Pro104Leu)	COSMIC
6	g.49459156G>C	CA364405023	MMUT	c.311C>G (p.Pro104Arg)
6	g.49459156G>T	CA364405024	MMUT	c.311C>A (p.Pro104His)
6	g.49459157G>A	CA3847139	MMUT	c.310C>T (p.Pro104Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49459157G>C	CA364405025	MMUT	c.310C>G (p.Pro104Ala)
6	g.49459157G=	CA1627396650	MMUT	c.310C= (p.Pro104=)
6	g.49459157G>T	CA364405026	MMUT	c.310C>A (p.Pro104Thr)
6	g.49459158C>A	CA364405027	MMUT	c.309G>T (p.Arg103Ser)	gnomAD v4
6	g.49459158C>G	CA364405028	MMUT	c.309G>C (p.Arg103Ser)
6	g.49459158C>T	CA450609517	MMUT	c.309G>A (p.Arg103=)	gnomAD v4
6	g.49459159C>A	CA364405031	MMUT	c.308G>T (p.Arg103Met)
6	g.49459159C>G	CA364405030	MMUT	c.308G>C (p.Arg103Thr)
6	g.49459159C>T	CA364405029	MMUT	c.308G>A (p.Arg103Lys)
6	g.49459159_49459160insGCACCGCG	CA2550235074	MMUT	c.307_308insCGCGGTGC (p.Arg103ThrfsTer?)
6	g.49459160T>A	CA364405032	MMUT	c.307A>T (p.Arg103Trp)
6	g.49459160T>C	CA364405033	MMUT	c.307A>G (p.Arg103Gly)
6	g.49459160T>G	CA450609521	MMUT	c.307A>C (p.Arg103=)
6	g.49459161A>C	CA364405034	MMUT	c.306T>G (p.Phe102Leu)
6	g.49459161A>G	CA450609522	MMUT	c.306T>C (p.Phe102=)	gnomAD v4
6	g.49459161A>T	CA364405035	MMUT	c.306T>A (p.Phe102Leu)
6	g.49459161_49459162insCATGGTGGCCTGCGGGCCGCGC	CA2544888496	MMUT	c.305_306insGCGCGGCCCGCAGGCCACCATG (p.Phe102LeufsTer9)
6	g.49459162A>C	CA364405036	MMUT	c.305T>G (p.Phe102Cys)
6	g.49459162A>G	CA364405037	MMUT	c.305T>C (p.Phe102Ser)
6	g.49459162A>T	CA364405038	MMUT	c.305T>A (p.Phe102Tyr)	gnomAD v4
6	g.49459163A=	CA1627396653	MMUT	c.304T= (p.Phe102=)
6	g.49459163A>C	CA364405039	MMUT	c.304T>G (p.Phe102Val)	dbSNP
6	g.49459163A>G	CA364405040	MMUT	c.304T>C (p.Phe102Leu)
6	g.49459163A>T	CA364405041	MMUT	c.304T>A (p.Phe102Ile)
6	g.49459164G>A	CA450609527	MMUT	c.303C>T (p.Thr101=)	dbSNP gnomAD v4
6	g.49459164G>C	CA450609526	MMUT	c.303C>G (p.Thr101=)
6	g.49459164G=	CA1627396655	MMUT	c.303C= (p.Thr101=)
6	g.49459164G>T	CA450609525	MMUT	c.303C>A (p.Thr101=)
6	g.49459164_49459165insAAAGGCTCAAAGCCCGGCAGCGTGTCG	CA2512341428	MMUT	c.303_304insGACACGCTGCCGGGCTTTGAGCCTTTC (p.Thr101_Phe102insAspThrLeuProGlyPheGluProPhe)
6	g.49459165G>A	CA364405042	MMUT	c.302C>T (p.Thr101Ile)	gnomAD v4
6	g.49459165G>C	CA364405043	MMUT	c.302C>G (p.Thr101Ser)
6	g.49459165G>T	CA364405044	MMUT	c.302C>A (p.Thr101Asn)
6	g.49459166T>A	CA364405045	MMUT	c.301A>T (p.Thr101Ser)
6	g.49459166T>C	CA364405046	MMUT	c.301A>G (p.Thr101Ala)	COSMIC
6	g.49459166T>G	CA364405047	MMUT	c.301A>C (p.Thr101Pro)	dbSNP
6	g.49459166T=	CA1627396659	MMUT	c.301A= (p.Thr101=)
6	g.49459168_49459169dup	CA2695206697	MMUT	c.300_301dup (p.Thr101IlefsTer?)

Number of alleles fetched