Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5044688_5044759del	CA6399646	KCNA5	c.541_612del (p.Ser181_Gln204del)	ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044718G>A	CA383464704	KCNA5	c.571G>A (p.Val191Ile)	gnomAD v4
12	g.5044718G>C	CA383464705	KCNA5	c.571G>C (p.Val191Leu)	dbSNP gnomAD v2 gnomAD v4
12	g.5044718G=	CA2013430836	KCNA5	c.571G= (p.Val191=)
12	g.5044718G>T	CA383464706	KCNA5	c.571G>T (p.Val191Phe)
12	g.5044719T>A	CA383464708	KCNA5	c.572T>A (p.Val191Asp)
12	g.5044719T>C	CA383464709	KCNA5	c.572T>C (p.Val191Ala)
12	g.5044719T>G	CA383464707	KCNA5	c.572T>G (p.Val191Gly)
12	g.5044720C>A	CA478095092	KCNA5	c.573C>A (p.Val191=)	dbSNP
12	g.5044720C=	CA2013430837	KCNA5	c.573C= (p.Val191=)
12	g.5044720C>G	CA478095093	KCNA5	c.573C>G (p.Val191=)
12	g.5044720C>T	CA478095091	KCNA5	c.573C>T (p.Val191=)
12	g.5044721T>A	CA383464710	KCNA5	c.574T>A (p.Ser192Thr)
12	g.5044721T>C	CA383464711	KCNA5	c.574T>C (p.Ser192Pro)
12	g.5044721T>G	CA383464712	KCNA5	c.574T>G (p.Ser192Ala)
12	g.5044722C>A	CA6399660	KCNA5	c.575C>A (p.Ser192Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044722C=	CA2013430838	KCNA5	c.575C= (p.Ser192=)
12	g.5044722C>G	CA383464713	KCNA5	c.575C>G (p.Ser192Cys)
12	g.5044722C>T	CA383464714	KCNA5	c.575C>T (p.Ser192Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044723C>A	CA478095096	KCNA5	c.576C>A (p.Ser192=)	gnomAD v4
12	g.5044723C>G	CA478095097	KCNA5	c.576C>G (p.Ser192=)
12	g.5044723C>T	CA478095098	KCNA5	c.576C>T (p.Ser192=)
12	g.5044724C>A	CA383464715	KCNA5	c.577C>A (p.Leu193Met)	dbSNP gnomAD v3 gnomAD v4
12	g.5044724C=	CA2013430839	KCNA5	c.577C= (p.Leu193=)
12	g.5044724C>G	CA383464716	KCNA5	c.577C>G (p.Leu193Val)
12	g.5044724C>T	CA231867458	KCNA5	c.577C>T (p.Leu193=)	dbSNP gnomAD v4 COSMIC
12	g.5044725T>A	CA383464717	KCNA5	c.578T>A (p.Leu193Gln)	gnomAD v4
12	g.5044725T>C	CA383464718	KCNA5	c.578T>C (p.Leu193Pro)
12	g.5044725T>G	CA383464719	KCNA5	c.578T>G (p.Leu193Arg)
12	g.5044726G>A	CA478095100	KCNA5	c.579G>A (p.Leu193=)
12	g.5044726G>C	CA478095101	KCNA5	c.579G>C (p.Leu193=)
12	g.5044726G>T	CA478095099	KCNA5	c.579G>T (p.Leu193=)
12	g.5044727G>A	CA383464720	KCNA5	c.580G>A (p.Asp194Asn)
12	g.5044727G>C	CA383464721	KCNA5	c.580G>C (p.Asp194His)	dbSNP gnomAD v3 gnomAD v4
12	g.5044727G=	CA2013430840	KCNA5	c.580G= (p.Asp194=)
12	g.5044727G>T	CA383464722	KCNA5	c.580G>T (p.Asp194Tyr)
12	g.5044728A>C	CA383464724	KCNA5	c.581A>C (p.Asp194Ala)
12	g.5044728A>G	CA383464725	KCNA5	c.581A>G (p.Asp194Gly)
12	g.5044728A>T	CA383464723	KCNA5	c.581A>T (p.Asp194Val)
12	g.5044729C>A	CA6399661	KCNA5	c.582C>A (p.Asp194Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044729C=	CA2013430841	KCNA5	c.582C= (p.Asp194=)
12	g.5044729C>G	CA383464726	KCNA5	c.582C>G (p.Asp194Glu)
12	g.5044729C>T	CA478095102	KCNA5	c.582C>T (p.Asp194=)	dbSNP gnomAD v4 COSMIC
12	g.5044729_5044731delinsCGT	CA2013430842	KCNA5	c.582_584delinsCGT (p.Asp194=)
12	g.5044730G>A	CA6399663	KCNA5	c.583G>A (p.Val195Met)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044730G>C	CA383464727	KCNA5	c.583G>C (p.Val195Leu)
12	g.5044730G=	CA2013430843	KCNA5	c.583G= (p.Val195=)
12	g.5044730G>T	CA6399662	KCNA5	c.583G>T (p.Val195Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044732_5044733del	CA2013430844	KCNA5	c.585_586del (p.Phe196ArgfsTer21)	dbSNP
12	g.5044731T>A	CA383464728	KCNA5	c.584T>A (p.Val195Glu)
12	g.5044731T>C	CA383464729	KCNA5	c.584T>C (p.Val195Ala)
12	g.5044731T>G	CA383464730	KCNA5	c.584T>G (p.Val195Gly)
12	g.5044732G>A	CA478095104	KCNA5	c.585G>A (p.Val195=)	dbSNP gnomAD v2
12	g.5044732G>C	CA478095105	KCNA5	c.585G>C (p.Val195=)
12	g.5044732G=	CA2013430845	KCNA5	c.585G= (p.Val195=)
12	g.5044732G>T	CA478095103	KCNA5	c.585G>T (p.Val195=)
12	g.5044733T>A	CA383464731	KCNA5	c.586T>A (p.Phe196Ile)
12	g.5044733T>C	CA383464732	KCNA5	c.586T>C (p.Phe196Leu)	COSMIC
12	g.5044733T>G	CA383464733	KCNA5	c.586T>G (p.Phe196Val)	gnomAD v4
12	g.5044734T>A	CA383464734	KCNA5	c.587T>A (p.Phe196Tyr)
12	g.5044734T>C	CA383464735	KCNA5	c.587T>C (p.Phe196Ser)
12	g.5044734T>G	CA383464736	KCNA5	c.587T>G (p.Phe196Cys)
12	g.5044735C>A	CA383464737	KCNA5	c.588C>A (p.Phe196Leu)
12	g.5044735C>G	CA383464738	KCNA5	c.588C>G (p.Phe196Leu)
12	g.5044735C>T	CA478095106	KCNA5	c.588C>T (p.Phe196=)	COSMIC
12	g.5044736G>A	CA383464741	KCNA5	c.589G>A (p.Ala197Thr)	dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.5044736G>C	CA383464740	KCNA5	c.589G>C (p.Ala197Pro)	gnomAD v4
12	g.5044736G=	CA2013430846	KCNA5	c.589G= (p.Ala197=)
12	g.5044736G>T	CA383464739	KCNA5	c.589G>T (p.Ala197Ser)
12	g.5044737C>A	CA383464742	KCNA5	c.590C>A (p.Ala197Glu)
12	g.5044737C=	CA2013430847	KCNA5	c.590C= (p.Ala197=)
12	g.5044737C>G	CA383464743	KCNA5	c.590C>G (p.Ala197Gly)
12	g.5044737C>T	CA383464744	KCNA5	c.590C>T (p.Ala197Val)	dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.5044738G>A	CA478095108	KCNA5	c.591G>A (p.Ala197=)	dbSNP
12	g.5044738G>C	CA478095109	KCNA5	c.591G>C (p.Ala197=)
12	g.5044738G=	CA2013430848	KCNA5	c.591G= (p.Ala197=)
12	g.5044738G>T	CA478095107	KCNA5	c.591G>T (p.Ala197=)
12	g.5044739G>A	CA383464745	KCNA5	c.592G>A (p.Asp198Asn)
12	g.5044739G>C	CA383464746	KCNA5	c.592G>C (p.Asp198His)
12	g.5044739G>T	CA383464747	KCNA5	c.592G>T (p.Asp198Tyr)
12	g.5044740A=	CA2013430849	KCNA5	c.593A= (p.Asp198=)
12	g.5044740A>C	CA383464748	KCNA5	c.593A>C (p.Asp198Ala)
12	g.5044740A>G	CA383464749	KCNA5	c.593A>G (p.Asp198Gly)	dbSNP
12	g.5044740A>T	CA383464750	KCNA5	c.593A>T (p.Asp198Val)
12	g.5044741C>A	CA383464751	KCNA5	c.594C>A (p.Asp198Glu)
12	g.5044741C=	CA2013430850	KCNA5	c.594C= (p.Asp198=)
12	g.5044741C>G	CA383464752	KCNA5	c.594C>G (p.Asp198Glu)
12	g.5044741C>T	CA478095111	KCNA5	c.594C>T (p.Asp198=)	dbSNP gnomAD v4 COSMIC
12	g.5044742G>A	CA383464753	KCNA5	c.595G>A (p.Glu199Lys)	COSMIC
12	g.5044742G>C	CA383464754	KCNA5	c.595G>C (p.Glu199Gln)	dbSNP
12	g.5044742G=	CA2013430851	KCNA5	c.595G= (p.Glu199=)
12	g.5044742G>T	CA383464755	KCNA5	c.595G>T (p.Glu199Ter)	gnomAD v4
12	g.5044744_5044745del	CA2725578713	KCNA5	c.597_598del (p.Glu199AspfsTer18)	dbSNP
12	g.5044743A>C	CA383464757	KCNA5	c.596A>C (p.Glu199Ala)
12	g.5044743A>G	CA383464758	KCNA5	c.596A>G (p.Glu199Gly)	gnomAD v4
12	g.5044743A>T	CA383464756	KCNA5	c.596A>T (p.Glu199Val)
12	g.5044744G>A	CA478095113	KCNA5	c.597G>A (p.Glu199=)	dbSNP gnomAD v3 gnomAD v4
12	g.5044744G>C	CA6399664	KCNA5	c.597G>C (p.Glu199Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044744G=	CA2013430852	KCNA5	c.597G= (p.Glu199=)
12	g.5044744G>T	CA383464759	KCNA5	c.597G>T (p.Glu199Asp)
12	g.5044745A=	CA2013430853	KCNA5	c.598A= (p.Ile200=)
12	g.5044745A>C	CA383464760	KCNA5	c.598A>C (p.Ile200Leu)
12	g.5044745A>G	CA383464761	KCNA5	c.598A>G (p.Ile200Val)
12	g.5044745A>T	CA6399665	KCNA5	c.598A>T (p.Ile200Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044746T>A	CA383464762	KCNA5	c.599T>A (p.Ile200Lys)
12	g.5044746T>C	CA383464763	KCNA5	c.599T>C (p.Ile200Thr)	COSMIC
12	g.5044746T>G	CA383464764	KCNA5	c.599T>G (p.Ile200Arg)
12	g.5044749_5044756del	CA2617209902	KCNA5	c.602_609del (p.Arg201ProfsTer14)	gnomAD v4
12	g.5044747A>C	CA478095117	KCNA5	c.600A>C (p.Ile200=)
12	g.5044747A>G	CA383464765	KCNA5	c.600A>G (p.Ile200Met)	gnomAD v4 COSMIC
12	g.5044747A>T	CA478095118	KCNA5	c.600A>T (p.Ile200=)
12	g.5044748C>A	CA383464766	KCNA5	c.601C>A (p.Arg201Ser)
12	g.5044748C=	CA2013430854	KCNA5	c.601C= (p.Arg201=)
12	g.5044748C>G	CA383464767	KCNA5	c.601C>G (p.Arg201Gly)	gnomAD v4
12	g.5044748C>T	CA6399666	KCNA5	c.601C>T (p.Arg201Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044749G>A	CA231867518	KCNA5	c.602G>A (p.Arg201His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5044749G>C	CA383464768	KCNA5	c.602G>C (p.Arg201Pro)	dbSNP gnomAD v3 gnomAD v4
12	g.5044749G=	CA2013430855	KCNA5	c.602G= (p.Arg201=)
12	g.5044749G>T	CA6399667	KCNA5	c.602G>T (p.Arg201Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044750C>A	CA478095119	KCNA5	c.603C>A (p.Arg201=)
12	g.5044750C>G	CA478095120	KCNA5	c.603C>G (p.Arg201=)
12	g.5044750C>T	CA478095121	KCNA5	c.603C>T (p.Arg201=)	gnomAD v4
12	g.5044751T>A	CA383464769	KCNA5	c.604T>A (p.Phe202Ile)
12	g.5044751T>C	CA383464770	KCNA5	c.604T>C (p.Phe202Leu)	gnomAD v4
12	g.5044751T>G	CA383464771	KCNA5	c.604T>G (p.Phe202Val)
12	g.5044752T>A	CA383464772	KCNA5	c.605T>A (p.Phe202Tyr)
12	g.5044752T>C	CA383464773	KCNA5	c.605T>C (p.Phe202Ser)
12	g.5044752T>G	CA383464774	KCNA5	c.605T>G (p.Phe202Cys)
12	g.5044753C>A	CA383464775	KCNA5	c.606C>A (p.Phe202Leu)
12	g.5044753C=	CA2013430856	KCNA5	c.606C= (p.Phe202=)
12	g.5044753C>G	CA383464776	KCNA5	c.606C>G (p.Phe202Leu)
12	g.5044753C>T	CA478095122	KCNA5	c.606C>T (p.Phe202=)	dbSNP
12	g.5044754T>A	CA383464777	KCNA5	c.607T>A (p.Tyr203Asn)
12	g.5044754T>C	CA383464778	KCNA5	c.607T>C (p.Tyr203His)
12	g.5044754T>G	CA383464779	KCNA5	c.607T>G (p.Tyr203Asp)
12	g.5044755A=	CA2013430857	KCNA5	c.608A= (p.Tyr203=)
12	g.5044755A>C	CA383464782	KCNA5	c.608A>C (p.Tyr203Ser)	dbSNP gnomAD v4
12	g.5044755A>G	CA383464781	KCNA5	c.608A>G (p.Tyr203Cys)	gnomAD v4
12	g.5044755A>T	CA383464780	KCNA5	c.608A>T (p.Tyr203Phe)
12	g.5044756C>A	CA383464783	KCNA5	c.609C>A (p.Tyr203Ter)
12	g.5044756C>G	CA383464784	KCNA5	c.609C>G (p.Tyr203Ter)	gnomAD v4
12	g.5044756C>T	CA478095124	KCNA5	c.609C>T (p.Tyr203=)
12	g.5044757C>A	CA383464785	KCNA5	c.610C>A (p.Gln204Lys)
12	g.5044757C>G	CA383464786	KCNA5	c.610C>G (p.Gln204Glu)	gnomAD v4
12	g.5044757C>T	CA383464787	KCNA5	c.610C>T (p.Gln204Ter)
12	g.5044758A>C	CA383464788	KCNA5	c.611A>C (p.Gln204Pro)
12	g.5044758A>G	CA383464789	KCNA5	c.611A>G (p.Gln204Arg)
12	g.5044758A>T	CA383464790	KCNA5	c.611A>T (p.Gln204Leu)
12	g.5044759G>A	CA6399668	KCNA5	c.612G>A (p.Gln204=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044759G>C	CA383464791	KCNA5	c.612G>C (p.Gln204His)	dbSNP gnomAD v2 gnomAD v4
12	g.5044759G=	CA2013430858	KCNA5	c.612G= (p.Gln204=)
12	g.5044759G>T	CA383464792	KCNA5	c.612G>T (p.Gln204His)
12	g.5044760C>A	CA231867548	KCNA5	c.613C>A (p.Leu205Met)	dbSNP gnomAD v3 gnomAD v4
12	g.5044760C=	CA2013430859	KCNA5	c.613C= (p.Leu205=)
12	g.5044760C>G	CA383464793	KCNA5	c.613C>G (p.Leu205Val)	COSMIC
12	g.5044760C>T	CA6399669	KCNA5	c.613C>T (p.Leu205=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044761T>A	CA383464796	KCNA5	c.614T>A (p.Leu205Gln)
12	g.5044761T>C	CA383464794	KCNA5	c.614T>C (p.Leu205Pro)
12	g.5044761T>G	CA383464795	KCNA5	c.614T>G (p.Leu205Arg)	gnomAD v4
12	g.5044762G>A	CA478095126	KCNA5	c.615G>A (p.Leu205=)	gnomAD v4
12	g.5044762G>C	CA6399670	KCNA5	c.615G>C (p.Leu205=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044762G=	CA2013430860	KCNA5	c.615G= (p.Leu205=)
12	g.5044762G>T	CA478095127	KCNA5	c.615G>T (p.Leu205=)
12	g.5044763G>A	CA6399671	KCNA5	c.616G>A (p.Gly206Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044763G>C	CA383464797	KCNA5	c.616G>C (p.Gly206Arg)	gnomAD v4
12	g.5044763G=	CA2013430861	KCNA5	c.616G= (p.Gly206=)
12	g.5044763G>T	CA383464798	KCNA5	c.616G>T (p.Gly206Trp)
12	g.5044764G>A	CA383464799	KCNA5	c.617G>A (p.Gly206Glu)	COSMIC
12	g.5044764G>C	CA6399672	KCNA5	c.617G>C (p.Gly206Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044764G=	CA2013430862	KCNA5	c.617G= (p.Gly206=)
12	g.5044764G>T	CA383464800	KCNA5	c.617G>T (p.Gly206Val)
12	g.5044765G>A	CA6399673	KCNA5	c.618G>A (p.Gly206=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044765G>C	CA478095131	KCNA5	c.618G>C (p.Gly206=)
12	g.5044765G=	CA2013430863	KCNA5	c.618G= (p.Gly206=)
12	g.5044765G>T	CA478095132	KCNA5	c.618G>T (p.Gly206=)
12	g.5044766G>A	CA6399674	KCNA5	c.619G>A (p.Asp207Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044766G>C	CA383464801	KCNA5	c.619G>C (p.Asp207His)	dbSNP
12	g.5044766G=	CA2013430864	KCNA5	c.619G= (p.Asp207=)
12	g.5044766G>T	CA383464802	KCNA5	c.619G>T (p.Asp207Tyr)	gnomAD v4
12	g.5044767A>C	CA383464804	KCNA5	c.620A>C (p.Asp207Ala)
12	g.5044767A>G	CA383464805	KCNA5	c.620A>G (p.Asp207Gly)
12	g.5044767A>T	CA383464803	KCNA5	c.620A>T (p.Asp207Val)
12	g.5044768C>A	CA383464806	KCNA5	c.621C>A (p.Asp207Glu)
12	g.5044768C=	CA2013430865	KCNA5	c.621C= (p.Asp207=)
12	g.5044768C>G	CA6399675	KCNA5	c.621C>G (p.Asp207Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044768C>T	CA478095135	KCNA5	c.621C>T (p.Asp207=)	ClinVar dbSNP gnomAD v4
12	g.5044769G>A	CA383464807	KCNA5	c.622G>A (p.Glu208Lys)	ClinVar dbSNP gnomAD v4 COSMIC
12	g.5044769G>C	CA383464808	KCNA5	c.622G>C (p.Glu208Gln)	gnomAD v4
12	g.5044769G=	CA2013430866	KCNA5	c.622G= (p.Glu208=)
12	g.5044769G>T	CA6399676	KCNA5	c.622G>T (p.Glu208Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044770A>C	CA383464811	KCNA5	c.623A>C (p.Glu208Ala)
12	g.5044770A>G	CA383464810	KCNA5	c.623A>G (p.Glu208Gly)
12	g.5044770A>T	CA383464809	KCNA5	c.623A>T (p.Glu208Val)
12	g.5044771G>A	CA6399677	KCNA5	c.624G>A (p.Glu208=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044771G>C	CA383464812	KCNA5	c.624G>C (p.Glu208Asp)	gnomAD v4
12	g.5044771G=	CA2013430867	KCNA5	c.624G= (p.Glu208=)
12	g.5044771G>T	CA383464813	KCNA5	c.624G>T (p.Glu208Asp)
12	g.5044772G>A	CA383464814	KCNA5	c.625G>A (p.Ala209Thr)
12	g.5044772G>C	CA383464815	KCNA5	c.625G>C (p.Ala209Pro)	gnomAD v4
12	g.5044772G>T	CA383464816	KCNA5	c.625G>T (p.Ala209Ser)
12	g.5044773C>A	CA383464817	KCNA5	c.626C>A (p.Ala209Asp)
12	g.5044773C=	CA2013430868	KCNA5	c.626C= (p.Ala209=)
12	g.5044773C>G	CA383464818	KCNA5	c.626C>G (p.Ala209Gly)	dbSNP
12	g.5044773C>T	CA6399678	KCNA5	c.626C>T (p.Ala209Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044774C>A	CA478095142	KCNA5	c.627C>A (p.Ala209=)
12	g.5044774C>G	CA478095141	KCNA5	c.627C>G (p.Ala209=)
12	g.5044774C>T	CA478095139	KCNA5	c.627C>T (p.Ala209=)
12	g.5044775A=	CA2013430869	KCNA5	c.628A= (p.Met210=)
12	g.5044775A>C	CA231867577	KCNA5	c.628A>C (p.Met210Leu)	dbSNP
12	g.5044775A>G	CA383464819	KCNA5	c.628A>G (p.Met210Val)
12	g.5044775A>T	CA383464820	KCNA5	c.628A>T (p.Met210Leu)
12	g.5044776T>A	CA383464821	KCNA5	c.629T>A (p.Met210Lys)
12	g.5044776T>C	CA383464822	KCNA5	c.629T>C (p.Met210Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5044776T>G	CA383464823	KCNA5	c.629T>G (p.Met210Arg)
12	g.5044776T=	CA2013430871	KCNA5	c.629T= (p.Met210=)
12	g.5044776_5044777delinsTG	CA2013430870	KCNA5	c.629_630delinsTG (p.Met210=)
12	g.5044777G>A	CA383464824	KCNA5	c.630G>A (p.Met210Ile)	COSMIC
12	g.5044777G>C	CA383464825	KCNA5	c.630G>C (p.Met210Ile)
12	g.5044777G>T	CA383464826	KCNA5	c.630G>T (p.Met210Ile)	gnomAD v4
12	g.5044778del	CA919011934	KCNA5	c.631del (p.Glu211SerfsTer?)	dbSNP gnomAD v4
12	g.5044778G>A	CA383464827	KCNA5	c.631G>A (p.Glu211Lys)	ClinVar COSMIC
12	g.5044778G>C	CA383464828	KCNA5	c.631G>C (p.Glu211Gln)	ClinVar dbSNP gnomAD v4
12	g.5044778G=	CA2013430872	KCNA5	c.631G= (p.Glu211=)
12	g.5044778G>T	CA383464829	KCNA5	c.631G>T (p.Glu211Ter)
12	g.5044779A>C	CA383464831	KCNA5	c.632A>C (p.Glu211Ala)
12	g.5044779A>G	CA383464832	KCNA5	c.632A>G (p.Glu211Gly)
12	g.5044779A>T	CA383464830	KCNA5	c.632A>T (p.Glu211Val)
12	g.5044780G>A	CA478095145	KCNA5	c.633G>A (p.Glu211=)
12	g.5044780G>C	CA278491	KCNA5	c.633G>C (p.Glu211Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044780G=	CA2013430873	KCNA5	c.633G= (p.Glu211=)
12	g.5044780G>T	CA383464833	KCNA5	c.633G>T (p.Glu211Asp)
12	g.5044781C>A	CA6399679	KCNA5	c.634C>A (p.Arg212Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044781C=	CA2013430874	KCNA5	c.634C= (p.Arg212=)
12	g.5044781C>G	CA383464834	KCNA5	c.634C>G (p.Arg212Gly)
12	g.5044781C>T	CA236715	KCNA5	c.634C>T (p.Arg212Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044781dup	CA689645217	KCNA5	c.634dup (p.Arg212ProfsTer6)	dbSNP
12	g.5044782G>A	CA383464835	KCNA5	c.635G>A (p.Arg212His)	ClinVar COSMIC
12	g.5044782G>C	CA383464836	KCNA5	c.635G>C (p.Arg212Pro)
12	g.5044782G>T	CA383464837	KCNA5	c.635G>T (p.Arg212Leu)
12	g.5044783C>A	CA478095147	KCNA5	c.636C>A (p.Arg212=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044783C=	CA2013430875	KCNA5	c.636C= (p.Arg212=)
12	g.5044783C>G	CA6399680	KCNA5	c.636C>G (p.Arg212=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044783C>T	CA478095146	KCNA5	c.636C>T (p.Arg212=)
12	g.5044784T>A	CA383464840	KCNA5	c.637T>A (p.Phe213Ile)
12	g.5044784T>C	CA383464838	KCNA5	c.637T>C (p.Phe213Leu)
12	g.5044784T>G	CA383464839	KCNA5	c.637T>G (p.Phe213Val)
12	g.5044785T>A	CA383464841	KCNA5	c.638T>A (p.Phe213Tyr)	COSMIC
12	g.5044785T>C	CA6399681	KCNA5	c.638T>C (p.Phe213Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044785T>G	CA383464842	KCNA5	c.638T>G (p.Phe213Cys)
12	g.5044785T=	CA2013430876	KCNA5	c.638T= (p.Phe213=)
12	g.5044786C>A	CA383464843	KCNA5	c.639C>A (p.Phe213Leu)
12	g.5044786C=	CA2013430877	KCNA5	c.639C= (p.Phe213=)
12	g.5044786C>G	CA6399682	KCNA5	c.639C>G (p.Phe213Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044786C>T	CA478095151	KCNA5	c.639C>T (p.Phe213=)	gnomAD v4
12	g.5044787C>A	CA383464844	KCNA5	c.640C>A (p.Arg214Ser)
12	g.5044787C=	CA2013430878	KCNA5	c.640C= (p.Arg214=)
12	g.5044787C>G	CA231867612	KCNA5	c.640C>G (p.Arg214Gly)	dbSNP
12	g.5044787C>T	CA6399683	KCNA5	c.640C>T (p.Arg214Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044788G>A	CA383464845	KCNA5	c.641G>A (p.Arg214His)	ClinVar dbSNP COSMIC
12	g.5044788G>C	CA383464846	KCNA5	c.641G>C (p.Arg214Pro)
12	g.5044788G=	CA2013430879	KCNA5	c.641G= (p.Arg214=)
12	g.5044788G>T	CA383464847	KCNA5	c.641G>T (p.Arg214Leu)	dbSNP
12	g.5044789C>A	CA6399684	KCNA5	c.642C>A (p.Arg214=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044789C=	CA2013430880	KCNA5	c.642C= (p.Arg214=)
12	g.5044789C>G	CA478095155	KCNA5	c.642C>G (p.Arg214=)
12	g.5044789C>T	CA478095156	KCNA5	c.642C>T (p.Arg214=)
12	g.5044790G>A	CA383464848	KCNA5	c.643G>A (p.Glu215Lys)	gnomAD v4 COSMIC
12	g.5044790G>C	CA383464849	KCNA5	c.643G>C (p.Glu215Gln)
12	g.5044790G>T	CA383464850	KCNA5	c.643G>T (p.Glu215Ter)	gnomAD v4
12	g.5044791A>C	CA383464851	KCNA5	c.644A>C (p.Glu215Ala)
12	g.5044791A>G	CA383464852	KCNA5	c.644A>G (p.Glu215Gly)	dbSNP gnomAD v4
12	g.5044791A>T	CA383464853	KCNA5	c.644A>T (p.Glu215Val)
12	g.5044792G>A	CA6399685	KCNA5	c.645G>A (p.Glu215=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044792G>C	CA383464855	KCNA5	c.645G>C (p.Glu215Asp)
12	g.5044792G=	CA2013430881	KCNA5	c.645G= (p.Glu215=)
12	g.5044792G>T	CA383464854	KCNA5	c.645G>T (p.Glu215Asp)
12	g.5044793G>A	CA383464856	KCNA5	c.646G>A (p.Asp216Asn)
12	g.5044793G>C	CA6399686	KCNA5	c.646G>C (p.Asp216His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044793G=	CA2013430882	KCNA5	c.646G= (p.Asp216=)
12	g.5044793G>T	CA383464857	KCNA5	c.646G>T (p.Asp216Tyr)	COSMIC
12	g.5044794A>C	CA383464858	KCNA5	c.647A>C (p.Asp216Ala)
12	g.5044794A>G	CA383464859	KCNA5	c.647A>G (p.Asp216Gly)	gnomAD v4 COSMIC
12	g.5044794A>T	CA383464860	KCNA5	c.647A>T (p.Asp216Val)
12	g.5044795T>A	CA383464862	KCNA5	c.648T>A (p.Asp216Glu)
12	g.5044795T>C	CA478095159	KCNA5	c.648T>C (p.Asp216=)
12	g.5044795T>G	CA383464861	KCNA5	c.648T>G (p.Asp216Glu)
12	g.5044796G>A	CA383464863	KCNA5	c.649G>A (p.Glu217Lys)	dbSNP gnomAD v4
12	g.5044796G>C	CA383464864	KCNA5	c.649G>C (p.Glu217Gln)	gnomAD v4
12	g.5044796G=	CA2013430883	KCNA5	c.649G= (p.Glu217=)
12	g.5044796G>T	CA383464865	KCNA5	c.649G>T (p.Glu217Ter)
12	g.5044797A=	CA2013430884	KCNA5	c.650A= (p.Glu217=)
12	g.5044797A>C	CA383464866	KCNA5	c.650A>C (p.Glu217Ala)	dbSNP
12	g.5044797A>G	CA383464867	KCNA5	c.650A>G (p.Glu217Gly)
12	g.5044797A>T	CA383464868	KCNA5	c.650A>T (p.Glu217Val)
12	g.5044798G>A	CA6399687	KCNA5	c.651G>A (p.Glu217=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044798G>C	CA383464870	KCNA5	c.651G>C (p.Glu217Asp)
12	g.5044798G=	CA2013430885	KCNA5	c.651G= (p.Glu217=)
12	g.5044798G>T	CA383464869	KCNA5	c.651G>T (p.Glu217Asp)
12	g.5044799G>A	CA383464871	KCNA5	c.652G>A (p.Gly218Ser)
12	g.5044799G>C	CA383464872	KCNA5	c.652G>C (p.Gly218Arg)
12	g.5044799G>T	CA383464873	KCNA5	c.652G>T (p.Gly218Cys)
12	g.5044800G>A	CA383464874	KCNA5	c.653G>A (p.Gly218Asp)
12	g.5044800G>C	CA383464875	KCNA5	c.653G>C (p.Gly218Ala)
12	g.5044800G=	CA2013430886	KCNA5	c.653G= (p.Gly218=)
12	g.5044800G>T	CA6399688	KCNA5	c.653G>T (p.Gly218Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044801C>A	CA478095162	KCNA5	c.654C>A (p.Gly218=)
12	g.5044801C>G	CA478095163	KCNA5	c.654C>G (p.Gly218=)
12	g.5044801C>T	CA478095161	KCNA5	c.654C>T (p.Gly218=)
12	g.5044802T>A	CA383464876	KCNA5	c.655T>A (p.Phe219Ile)
12	g.5044802T>C	CA383464877	KCNA5	c.655T>C (p.Phe219Leu)
12	g.5044802T>G	CA383464878	KCNA5	c.655T>G (p.Phe219Val)
12	g.5044803T>A	CA383464879	KCNA5	c.656T>A (p.Phe219Tyr)
12	g.5044803T>C	CA383464880	KCNA5	c.656T>C (p.Phe219Ser)
12	g.5044803T>G	CA383464881	KCNA5	c.656T>G (p.Phe219Cys)
12	g.5044804C>A	CA383464883	KCNA5	c.657C>A (p.Phe219Leu)
12	g.5044804C=	CA2013430887	KCNA5	c.657C= (p.Phe219=)
12	g.5044804C>G	CA383464882	KCNA5	c.657C>G (p.Phe219Leu)
12	g.5044804C>T	CA478095165	KCNA5	c.657C>T (p.Phe219=)	dbSNP
12	g.5044805A=	CA2013430888	KCNA5	c.658A= (p.Ile220=)
12	g.5044805A>C	CA383464884	KCNA5	c.658A>C (p.Ile220Leu)	dbSNP gnomAD v2 gnomAD v4
12	g.5044805A>G	CA383464886	KCNA5	c.658A>G (p.Ile220Val)
12	g.5044805A>T	CA383464885	KCNA5	c.658A>T (p.Ile220Phe)
12	g.5044806T>A	CA383464887	KCNA5	c.659T>A (p.Ile220Asn)
12	g.5044806T>C	CA383464888	KCNA5	c.659T>C (p.Ile220Thr)
12	g.5044806T>G	CA383464889	KCNA5	c.659T>G (p.Ile220Ser)
12	g.5044807T>A	CA478095168	KCNA5	c.660T>A (p.Ile220=)
12	g.5044807T>C	CA478095166	KCNA5	c.660T>C (p.Ile220=)	dbSNP gnomAD v4
12	g.5044807T>G	CA383464890	KCNA5	c.660T>G (p.Ile220Met)
12	g.5044807T=	CA2013430889	KCNA5	c.660T= (p.Ile220=)
12	g.5044808A>C	CA383464891	KCNA5	c.661A>C (p.Lys221Gln)
12	g.5044808A>G	CA383464892	KCNA5	c.661A>G (p.Lys221Glu)
12	g.5044808A>T	CA383464893	KCNA5	c.661A>T (p.Lys221Ter)
12	g.5044809A=	CA2013430890	KCNA5	c.662A= (p.Lys221=)
12	g.5044809A>C	CA383464894	KCNA5	c.662A>C (p.Lys221Thr)
12	g.5044809A>G	CA231867640	KCNA5	c.662A>G (p.Lys221Arg)	dbSNP gnomAD v3 gnomAD v4
12	g.5044809A>T	CA383464895	KCNA5	c.662A>T (p.Lys221Ile)
12	g.5044813_5044815del	CA2617209903	KCNA5	c.666_668del (p.Glu223del)	gnomAD v4
12	g.5044810A>C	CA383464896	KCNA5	c.663A>C (p.Lys221Asn)
12	g.5044810A>G	CA478095169	KCNA5	c.663A>G (p.Lys221=)
12	g.5044810A>T	CA383464897	KCNA5	c.663A>T (p.Lys221Asn)
12	g.5044811G>A	CA383464900	KCNA5	c.664G>A (p.Glu222Lys)	gnomAD v4
12	g.5044811G>C	CA383464898	KCNA5	c.664G>C (p.Glu222Gln)
12	g.5044811G>T	CA383464899	KCNA5	c.664G>T (p.Glu222Ter)
12	g.5044812A>C	CA383464901	KCNA5	c.665A>C (p.Glu222Ala)
12	g.5044812A>G	CA383464902	KCNA5	c.665A>G (p.Glu222Gly)
12	g.5044812A>T	CA383464903	KCNA5	c.665A>T (p.Glu222Val)
12	g.5044813A>C	CA383464904	KCNA5	c.666A>C (p.Glu222Asp)	gnomAD v4
12	g.5044813A>G	CA478095172	KCNA5	c.666A>G (p.Glu222=)
12	g.5044813A>T	CA383464905	KCNA5	c.666A>T (p.Glu222Asp)
12	g.5044813_5044814delinsAG	CA2013430892	KCNA5	c.666_667delinsAG (p.Glu222=)
12	g.5044813_5044816delinsAGAG	CA2013430891	KCNA5	c.666_669delinsAGAG (p.Glu222=)
12	g.5044814del	CA2013430893	KCNA5	c.667del (p.Glu223ArgfsTer?)	dbSNP gnomAD v4
12	g.5044814G>A	CA6399690	KCNA5	c.667G>A (p.Glu223Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044814G>C	CA383464906	KCNA5	c.667G>C (p.Glu223Gln)	gnomAD v4
12	g.5044814G=	CA2013430894	KCNA5	c.667G= (p.Glu223=)
12	g.5044814G>T	CA383464907	KCNA5	c.667G>T (p.Glu223Ter)
12	g.5044817_5044819del	CA6399689	KCNA5	c.670_672del (p.Glu224del)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044815A>C	CA383464908	KCNA5	c.668A>C (p.Glu223Ala)
12	g.5044815A>G	CA383464909	KCNA5	c.668A>G (p.Glu223Gly)
12	g.5044815A>T	CA383464910	KCNA5	c.668A>T (p.Glu223Val)	COSMIC
12	g.5044815_5044816delinsAG	CA2013430895	KCNA5	c.668_669delinsAG (p.Glu223=)
12	g.5044816G>A	CA478095173	KCNA5	c.669G>A (p.Glu223=)
12	g.5044816G>C	CA383464912	KCNA5	c.669G>C (p.Glu223Asp)	dbSNP
12	g.5044816G=	CA2013430896	KCNA5	c.669G= (p.Glu223=)
12	g.5044816G>T	CA383464911	KCNA5	c.669G>T (p.Glu223Asp)
12	g.5044817del	CA1139662474	KCNA5	c.670del (p.Glu224ArgfsTer?)	ClinVar dbSNP
12	g.5044817G>A	CA383464913	KCNA5	c.670G>A (p.Glu224Lys)	dbSNP gnomAD v3 gnomAD v4
12	g.5044817G>C	CA383464915	KCNA5	c.670G>C (p.Glu224Gln)
12	g.5044817G=	CA2013430897	KCNA5	c.670G= (p.Glu224=)
12	g.5044817G>T	CA383464914	KCNA5	c.670G>T (p.Glu224Ter)
12	g.5044818A>C	CA383464916	KCNA5	c.671A>C (p.Glu224Ala)
12	g.5044818A>G	CA383464917	KCNA5	c.671A>G (p.Glu224Gly)
12	g.5044818A>T	CA383464918	KCNA5	c.671A>T (p.Glu224Val)

Number of alleles fetched