Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5045066C>A	CA383465413	KCNA5	c.919C>A (p.Pro307Thr)
12	g.5045066C=	CA2013431048	KCNA5	c.919C= (p.Pro307=)
12	g.5045066C>G	CA383465414	KCNA5	c.919C>G (p.Pro307Ala)
12	g.5045066C>T	CA199821	KCNA5	c.919C>T (p.Pro307Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045067C>A	CA383465415	KCNA5	c.920C>A (p.Pro307His)
12	g.5045067C=	CA2013431049	KCNA5	c.920C= (p.Pro307=)
12	g.5045067C>G	CA383465416	KCNA5	c.920C>G (p.Pro307Arg)
12	g.5045067C>T	CA383465417	KCNA5	c.920C>T (p.Pro307Leu)	dbSNP gnomAD v2 gnomAD v4
12	g.5045068C>A	CA478095307	KCNA5	c.921C>A (p.Pro307=)
12	g.5045068C=	CA2013431050	KCNA5	c.921C= (p.Pro307=)
12	g.5045068C>G	CA6399758	KCNA5	c.921C>G (p.Pro307=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045068C>T	CA478095308	KCNA5	c.921C>T (p.Pro307=)	dbSNP gnomAD v4
12	g.5045069del	CA645578788	KCNA5	c.922del (p.Ser308LeufsTer?)	COSMIC
12	g.5045069T>A	CA383465420	KCNA5	c.922T>A (p.Ser308Thr)
12	g.5045069T>C	CA383465419	KCNA5	c.922T>C (p.Ser308Pro)
12	g.5045069T>G	CA383465418	KCNA5	c.922T>G (p.Ser308Ala)
12	g.5045070C>A	CA383465421	KCNA5	c.923C>A (p.Ser308Tyr)
12	g.5045070C>G	CA383465422	KCNA5	c.923C>G (p.Ser308Cys)
12	g.5045070C>T	CA383465423	KCNA5	c.923C>T (p.Ser308Phe)
12	g.5045071T>A	CA478095309	KCNA5	c.924T>A (p.Ser308=)
12	g.5045071T>C	CA478095310	KCNA5	c.924T>C (p.Ser308=)	dbSNP gnomAD v2
12	g.5045071T>G	CA478095311	KCNA5	c.924T>G (p.Ser308=)
12	g.5045071T=	CA2013431051	KCNA5	c.924T= (p.Ser308=)
12	g.5045072G>A	CA383465424	KCNA5	c.925G>A (p.Gly309Ser)	gnomAD v4
12	g.5045072G>C	CA383465425	KCNA5	c.925G>C (p.Gly309Arg)
12	g.5045072G>T	CA383465426	KCNA5	c.925G>T (p.Gly309Cys)
12	g.5045073G>A	CA6399759	KCNA5	c.926G>A (p.Gly309Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045073G>C	CA383465427	KCNA5	c.926G>C (p.Gly309Ala)
12	g.5045073G=	CA2013431052	KCNA5	c.926G= (p.Gly309=)
12	g.5045073G>T	CA383465428	KCNA5	c.926G>T (p.Gly309Val)
12	g.5045074C>A	CA478095314	KCNA5	c.927C>A (p.Gly309=)	dbSNP
12	g.5045074C=	CA2013431053	KCNA5	c.927C= (p.Gly309=)
12	g.5045074C>G	CA478095315	KCNA5	c.927C>G (p.Gly309=)
12	g.5045074C>T	CA6399760	KCNA5	c.927C>T (p.Gly309=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045075C>A	CA383465429	KCNA5	c.928C>A (p.Pro310Thr)
12	g.5045075C>G	CA383465430	KCNA5	c.928C>G (p.Pro310Ala)
12	g.5045075C>T	CA383465431	KCNA5	c.928C>T (p.Pro310Ser)
12	g.5045076C>A	CA383465432	KCNA5	c.929C>A (p.Pro310His)
12	g.5045076C=	CA1630855460	KCNA5	c.929C= (p.Pro310=)
12	g.5045076C>G	CA383465433	KCNA5	c.929C>G (p.Pro310Arg)	dbSNP
12	g.5045076C>T	CA199947	KCNA5	c.929C>T (p.Pro310Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045077T>A	CA478095319	KCNA5	c.930T>A (p.Pro310=)	dbSNP COSMIC
12	g.5045077T>C	CA478095318	KCNA5	c.930T>C (p.Pro310=)
12	g.5045077T>G	CA478095317	KCNA5	c.930T>G (p.Pro310=)
12	g.5045077T=	CA2013431054	KCNA5	c.930T= (p.Pro310=)
12	g.5045078A=	CA2013431055	KCNA5	c.931A= (p.Thr311=)
12	g.5045078A>C	CA383465434	KCNA5	c.931A>C (p.Thr311Pro)
12	g.5045078A>G	CA383465436	KCNA5	c.931A>G (p.Thr311Ala)	dbSNP gnomAD v2 gnomAD v4
12	g.5045078A>T	CA383465435	KCNA5	c.931A>T (p.Thr311Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5045079C>A	CA383465437	KCNA5	c.932C>A (p.Thr311Lys)	dbSNP gnomAD v4 COSMIC
12	g.5045079C=	CA2013431056	KCNA5	c.932C= (p.Thr311=)
12	g.5045079C>G	CA383465438	KCNA5	c.932C>G (p.Thr311Arg)	gnomAD v4
12	g.5045079C>T	CA6399761	KCNA5	c.932C>T (p.Thr311Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045079_5045080del	CA2617209908	KCNA5	c.932_933del (p.Thr311SerfsTer?)	gnomAD v4
12	g.5045080_5045085dup	CA912996252	KCNA5	c.933_938dup (p.Ala313_Pro314insValAla)	gnomAD v4
12	g.5045080G>A	CA478095322	KCNA5	c.933G>A (p.Thr311=)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.5045080G>C	CA6399762	KCNA5	c.933G>C (p.Thr311=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045080G=	CA2013431057	KCNA5	c.933G= (p.Thr311=)
12	g.5045080G>T	CA478095321	KCNA5	c.933G>T (p.Thr311=)	gnomAD v4
12	g.5045081G>A	CA383465439	KCNA5	c.934G>A (p.Val312Met)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045081G>C	CA383465440	KCNA5	c.934G>C (p.Val312Leu)	gnomAD v4
12	g.5045081G=	CA2013431058	KCNA5	c.934G= (p.Val312=)
12	g.5045081G>T	CA383465441	KCNA5	c.934G>T (p.Val312Leu)
12	g.5045082T>A	CA383465442	KCNA5	c.935T>A (p.Val312Glu)
12	g.5045082T>C	CA383465443	KCNA5	c.935T>C (p.Val312Ala)
12	g.5045082T>G	CA383465444	KCNA5	c.935T>G (p.Val312Gly)
12	g.5045083G>A	CA478095327	KCNA5	c.936G>A (p.Val312=)	gnomAD v4
12	g.5045083G>C	CA478095325	KCNA5	c.936G>C (p.Val312=)
12	g.5045083G=	CA2013431059	KCNA5	c.936G= (p.Val312=)
12	g.5045083G>T	CA478095324	KCNA5	c.936G>T (p.Val312=)
12	g.5045084_5045089dup	CA2617209909	KCNA5	c.937_942dup (p.Pro314_Leu315insAlaPro)	dbSNP gnomAD v4
12	g.5045084G>A	CA383465446	KCNA5	c.937G>A (p.Ala313Thr)	dbSNP gnomAD v2 gnomAD v4
12	g.5045084G>C	CA231868219	KCNA5	c.937G>C (p.Ala313Pro)	dbSNP gnomAD v4
12	g.5045084G=	CA2013431060	KCNA5	c.937G= (p.Ala313=)
12	g.5045084G>T	CA383465445	KCNA5	c.937G>T (p.Ala313Ser)	gnomAD v4
12	g.5045084_5045087dup	CA1139662475	KCNA5	c.937_940dup (p.Pro314ArgfsTer?)	ClinVar dbSNP
12	g.5045085C>A	CA383465447	KCNA5	c.938C>A (p.Ala313Glu)
12	g.5045085C>G	CA383465448	KCNA5	c.938C>G (p.Ala313Gly)
12	g.5045085C>T	CA383465449	KCNA5	c.938C>T (p.Ala313Val)	gnomAD v4
12	g.5045086A>C	CA478095328	KCNA5	c.939A>C (p.Ala313=)
12	g.5045086A>G	CA478095330	KCNA5	c.939A>G (p.Ala313=)
12	g.5045086A>T	CA478095329	KCNA5	c.939A>T (p.Ala313=)
12	g.5045087C>A	CA383465450	KCNA5	c.940C>A (p.Pro314Thr)
12	g.5045087C>G	CA383465451	KCNA5	c.940C>G (p.Pro314Ala)
12	g.5045087C>T	CA383465452	KCNA5	c.940C>T (p.Pro314Ser)	gnomAD v4
12	g.5045088C>A	CA383465453	KCNA5	c.941C>A (p.Pro314Gln)
12	g.5045088C=	CA2013431061	KCNA5	c.941C= (p.Pro314=)
12	g.5045088C>G	CA383465454	KCNA5	c.941C>G (p.Pro314Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045088C>T	CA231868221	KCNA5	c.941C>T (p.Pro314Leu)	dbSNP gnomAD v3 gnomAD v4
12	g.5045089G>A	CA6399764	KCNA5	c.942G>A (p.Pro314=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045089G>C	CA478095333	KCNA5	c.942G>C (p.Pro314=)	gnomAD v4
12	g.5045089G=	CA2013431062	KCNA5	c.942G= (p.Pro314=)
12	g.5045089G>T	CA6399763	KCNA5	c.942G>T (p.Pro314=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045090C>A	CA383465456	KCNA5	c.943C>A (p.Leu315Ile)	dbSNP gnomAD v2 gnomAD v4
12	g.5045090C=	CA2013431063	KCNA5	c.943C= (p.Leu315=)
12	g.5045090C>G	CA383465457	KCNA5	c.943C>G (p.Leu315Val)
12	g.5045090C>T	CA383465455	KCNA5	c.943C>T (p.Leu315Phe)
12	g.5045091T>A	CA383465458	KCNA5	c.944T>A (p.Leu315His)
12	g.5045091T>C	CA6399765	KCNA5	c.944T>C (p.Leu315Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045091T>G	CA383465459	KCNA5	c.944T>G (p.Leu315Arg)
12	g.5045091T=	CA2013431064	KCNA5	c.944T= (p.Leu315=)
12	g.5045092C>A	CA6399766	KCNA5	c.945C>A (p.Leu315=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.5045092C=	CA2013431065	KCNA5	c.945C= (p.Leu315=)
12	g.5045092C>G	CA478095335	KCNA5	c.945C>G (p.Leu315=)	dbSNP gnomAD v4
12	g.5045092C>T	CA478095336	KCNA5	c.945C>T (p.Leu315=)
12	g.5045093C>A	CA383465460	KCNA5	c.946C>A (p.Leu316Met)
12	g.5045093C>G	CA383465461	KCNA5	c.946C>G (p.Leu316Val)
12	g.5045093C>T	CA478095337	KCNA5	c.946C>T (p.Leu316=)	gnomAD v4
12	g.5045094T>A	CA383465462	KCNA5	c.947T>A (p.Leu316Gln)
12	g.5045094T>C	CA383465463	KCNA5	c.947T>C (p.Leu316Pro)
12	g.5045094T>G	CA383465464	KCNA5	c.947T>G (p.Leu316Arg)
12	g.5045095G>A	CA478095338	KCNA5	c.948G>A (p.Leu316=)	gnomAD v4
12	g.5045095G>C	CA478095339	KCNA5	c.948G>C (p.Leu316=)	gnomAD v4
12	g.5045095G>T	CA478095340	KCNA5	c.948G>T (p.Leu316=)
12	g.5045096C>A	CA383465465	KCNA5	c.949C>A (p.Pro317Thr)
12	g.5045096C=	CA2013431066	KCNA5	c.949C= (p.Pro317=)
12	g.5045096C>G	CA383465466	KCNA5	c.949C>G (p.Pro317Ala)
12	g.5045096C>T	CA231868230	KCNA5	c.949C>T (p.Pro317Ser)	dbSNP
12	g.5045097C>A	CA383465468	KCNA5	c.950C>A (p.Pro317His)
12	g.5045097C>G	CA383465469	KCNA5	c.950C>G (p.Pro317Arg)
12	g.5045097C>T	CA383465467	KCNA5	c.950C>T (p.Pro317Leu)	gnomAD v4
12	g.5045098C>A	CA478095344	KCNA5	c.951C>A (p.Pro317=)
12	g.5045098C>G	CA478095345	KCNA5	c.951C>G (p.Pro317=)
12	g.5045098C>T	CA478095346	KCNA5	c.951C>T (p.Pro317=)
12	g.5045099A>C	CA478095350	KCNA5	c.952A>C (p.Arg318=)
12	g.5045099A>G	CA383465470	KCNA5	c.952A>G (p.Arg318Gly)
12	g.5045099A>T	CA383465471	KCNA5	c.952A>T (p.Arg318Trp)
12	g.5045100G>A	CA383465472	KCNA5	c.953G>A (p.Arg318Lys)	gnomAD v4
12	g.5045100G>C	CA383465473	KCNA5	c.953G>C (p.Arg318Thr)
12	g.5045100G>T	CA383465474	KCNA5	c.953G>T (p.Arg318Met)
12	g.5045101G>A	CA478095351	KCNA5	c.954G>A (p.Arg318=)	COSMIC
12	g.5045101G>C	CA383465476	KCNA5	c.954G>C (p.Arg318Ser)
12	g.5045101G>T	CA383465475	KCNA5	c.954G>T (p.Arg318Ser)
12	g.5045102A=	CA2013431067	KCNA5	c.955A= (p.Thr319=)
12	g.5045102A>C	CA383465477	KCNA5	c.955A>C (p.Thr319Pro)
12	g.5045102A>G	CA383465478	KCNA5	c.955A>G (p.Thr319Ala)	dbSNP gnomAD v3 gnomAD v4
12	g.5045102A>T	CA383465479	KCNA5	c.955A>T (p.Thr319Ser)
12	g.5045103C>A	CA383465480	KCNA5	c.956C>A (p.Thr319Asn)
12	g.5045103C>G	CA383465481	KCNA5	c.956C>G (p.Thr319Ser)
12	g.5045103C>T	CA383465482	KCNA5	c.956C>T (p.Thr319Ile)
12	g.5045104C>A	CA478095472	KCNA5	c.957C>A (p.Thr319=)	gnomAD v4
12	g.5045104C=	CA2013431068	KCNA5	c.957C= (p.Thr319=)
12	g.5045104C>G	CA478095475	KCNA5	c.957C>G (p.Thr319=)
12	g.5045104C>T	CA6399767	KCNA5	c.957C>T (p.Thr319=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045105C>A	CA383465483	KCNA5	c.958C>A (p.Leu320Met)
12	g.5045105C>G	CA383465484	KCNA5	c.958C>G (p.Leu320Val)
12	g.5045105C>T	CA478095477	KCNA5	c.958C>T (p.Leu320=)
12	g.5045106T>A	CA383465485	KCNA5	c.959T>A (p.Leu320Gln)
12	g.5045106T>C	CA231868240	KCNA5	c.959T>C (p.Leu320Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045106T>G	CA383465486	KCNA5	c.959T>G (p.Leu320Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045106T=	CA2013431069	KCNA5	c.959T= (p.Leu320=)
12	g.5045107G>A	CA6399768	KCNA5	c.960G>A (p.Leu320=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045107G>C	CA478095483	KCNA5	c.960G>C (p.Leu320=)
12	g.5045107G=	CA2013431070	KCNA5	c.960G= (p.Leu320=)
12	g.5045107G>T	CA478095484	KCNA5	c.960G>T (p.Leu320=)
12	g.5045108G>A	CA6399769	KCNA5	c.961G>A (p.Ala321Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045108G>C	CA383465487	KCNA5	c.961G>C (p.Ala321Pro)
12	g.5045108G=	CA2013431071	KCNA5	c.961G= (p.Ala321=)
12	g.5045108G>T	CA383465488	KCNA5	c.961G>T (p.Ala321Ser)
12	g.5045109C>A	CA383465489	KCNA5	c.962C>A (p.Ala321Asp)
12	g.5045109C=	CA2013431072	KCNA5	c.962C= (p.Ala321=)
12	g.5045109C>G	CA383465490	KCNA5	c.962C>G (p.Ala321Gly)
12	g.5045109C>T	CA6399770	KCNA5	c.962C>T (p.Ala321Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045110C>A	CA6399771	KCNA5	c.963C>A (p.Ala321=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045110C=	CA2013431073	KCNA5	c.963C= (p.Ala321=)
12	g.5045110C>G	CA478095487	KCNA5	c.963C>G (p.Ala321=)	dbSNP gnomAD v4
12	g.5045110C>T	CA478095486	KCNA5	c.963C>T (p.Ala321=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045111G>A	CA6399773	KCNA5	c.964G>A (p.Asp322Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045111G>C	CA6399772	KCNA5	c.964G>C (p.Asp322His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045111G=	CA2013431074	KCNA5	c.964G= (p.Asp322=)
12	g.5045111G>T	CA6399774	KCNA5	c.964G>T (p.Asp322Tyr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045112A=	CA2013431075	KCNA5	c.965A= (p.Asp322=)
12	g.5045112A>C	CA383465491	KCNA5	c.965A>C (p.Asp322Ala)
12	g.5045112A>G	CA383465492	KCNA5	c.965A>G (p.Asp322Gly)	gnomAD v4
12	g.5045112A>T	CA231868287	KCNA5	c.965A>T (p.Asp322Val)	dbSNP
12	g.5045112_5045113delinsAC	CA2013431076	KCNA5	c.965_966delinsAC (p.Asp322=)
12	g.5045113C>A	CA383465493	KCNA5	c.966C>A (p.Asp322Glu)
12	g.5045113C=	CA2013431077	KCNA5	c.966C= (p.Asp322=)
12	g.5045113C>G	CA236721	KCNA5	c.966C>G (p.Asp322Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045113C>T	CA478095491	KCNA5	c.966C>T (p.Asp322=)
12	g.5045116dup	CA2741226806	KCNA5	c.969dup (p.Phe324LeufsTer?)
12	g.5045116del	CA2013431078	KCNA5	c.969del (p.Phe324SerfsTer?)	dbSNP
12	g.5045114C>A	CA6399776	KCNA5	c.967C>A (p.Pro323Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045114C=	CA2013431079	KCNA5	c.967C= (p.Pro323=)
12	g.5045114C>G	CA383465494	KCNA5	c.967C>G (p.Pro323Ala)	gnomAD v4
12	g.5045114C>T	CA6399775	KCNA5	c.967C>T (p.Pro323Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045115C>A	CA383465495	KCNA5	c.968C>A (p.Pro323His)	dbSNP COSMIC
12	g.5045115C=	CA2013431080	KCNA5	c.968C= (p.Pro323=)
12	g.5045115C>G	CA383465496	KCNA5	c.968C>G (p.Pro323Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045115C>T	CA383465497	KCNA5	c.968C>T (p.Pro323Leu)	dbSNP gnomAD v4
12	g.5045116C>A	CA478095497	KCNA5	c.969C>A (p.Pro323=)
12	g.5045116C=	CA2013431081	KCNA5	c.969C= (p.Pro323=)
12	g.5045116C>G	CA478095498	KCNA5	c.969C>G (p.Pro323=)
12	g.5045116C>T	CA478095496	KCNA5	c.969C>T (p.Pro323=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045117T>A	CA383465498	KCNA5	c.970T>A (p.Phe324Ile)
12	g.5045117T>C	CA383465499	KCNA5	c.970T>C (p.Phe324Leu)
12	g.5045117T>G	CA383465500	KCNA5	c.970T>G (p.Phe324Val)
12	g.5045118T>A	CA383465501	KCNA5	c.971T>A (p.Phe324Tyr)
12	g.5045118T>C	CA383465502	KCNA5	c.971T>C (p.Phe324Ser)
12	g.5045118T>G	CA383465503	KCNA5	c.971T>G (p.Phe324Cys)
12	g.5045119C>A	CA383465504	KCNA5	c.972C>A (p.Phe324Leu)	dbSNP gnomAD v3 gnomAD v4
12	g.5045119C=	CA2013431082	KCNA5	c.972C= (p.Phe324=)
12	g.5045119C>G	CA383465505	KCNA5	c.972C>G (p.Phe324Leu)
12	g.5045119C>T	CA478095501	KCNA5	c.972C>T (p.Phe324=)
12	g.5045120T>A	CA383465506	KCNA5	c.973T>A (p.Phe325Ile)
12	g.5045120T>C	CA383465507	KCNA5	c.973T>C (p.Phe325Leu)
12	g.5045120T>G	CA383465508	KCNA5	c.973T>G (p.Phe325Val)	gnomAD v4
12	g.5045121T>A	CA383465509	KCNA5	c.974T>A (p.Phe325Tyr)
12	g.5045121T>C	CA383465510	KCNA5	c.974T>C (p.Phe325Ser)
12	g.5045121T>G	CA383465511	KCNA5	c.974T>G (p.Phe325Cys)
12	g.5045122C>A	CA383465512	KCNA5	c.975C>A (p.Phe325Leu)
12	g.5045122C>G	CA383465513	KCNA5	c.975C>G (p.Phe325Leu)
12	g.5045122C>T	CA478095504	KCNA5	c.975C>T (p.Phe325=)
12	g.5045122_5045125dup	CA2617209910	KCNA5	c.975_978dup (p.Val327HisfsTer?)	gnomAD v4
12	g.5045123A>C	CA383465514	KCNA5	c.976A>C (p.Ile326Leu)
12	g.5045123A>G	CA383465516	KCNA5	c.976A>G (p.Ile326Val)	gnomAD v4
12	g.5045123A>T	CA383465515	KCNA5	c.976A>T (p.Ile326Phe)
12	g.5045124T>A	CA383465517	KCNA5	c.977T>A (p.Ile326Asn)
12	g.5045124T>C	CA383465518	KCNA5	c.977T>C (p.Ile326Thr)	gnomAD v4
12	g.5045124T>G	CA6399777	KCNA5	c.977T>G (p.Ile326Ser)	dbSNP ExAC gnomAD v2
12	g.5045124T=	CA2013431083	KCNA5	c.977T= (p.Ile326=)
12	g.5045125C>A	CA478095508	KCNA5	c.978C>A (p.Ile326=)	gnomAD v4
12	g.5045125C=	CA2013431084	KCNA5	c.978C= (p.Ile326=)
12	g.5045125C>G	CA383465519	KCNA5	c.978C>G (p.Ile326Met)
12	g.5045125C>T	CA478095510	KCNA5	c.978C>T (p.Ile326=)	dbSNP gnomAD v4 COSMIC
12	g.5045126G>A	CA383465520	KCNA5	c.979G>A (p.Val327Met)	gnomAD v4 COSMIC
12	g.5045126G>C	CA383465522	KCNA5	c.979G>C (p.Val327Leu)
12	g.5045126G>T	CA383465521	KCNA5	c.979G>T (p.Val327Leu)
12	g.5045127_5045129del	CA2617209911	KCNA5	c.980_982del (p.Val327del)	gnomAD v4
12	g.5045127T>A	CA383465523	KCNA5	c.980T>A (p.Val327Glu)
12	g.5045127T>C	CA383465524	KCNA5	c.980T>C (p.Val327Ala)
12	g.5045127T>G	CA383465525	KCNA5	c.980T>G (p.Val327Gly)
12	g.5045128G>A	CA478095512	KCNA5	c.981G>A (p.Val327=)
12	g.5045128G>C	CA478095513	KCNA5	c.981G>C (p.Val327=)
12	g.5045128G>T	CA478095511	KCNA5	c.981G>T (p.Val327=)
12	g.5045129G>A	CA383465526	KCNA5	c.982G>A (p.Glu328Lys)
12	g.5045129G>C	CA383465527	KCNA5	c.982G>C (p.Glu328Gln)
12	g.5045129G>T	CA383465528	KCNA5	c.982G>T (p.Glu328Ter)
12	g.5045130A=	CA2013431085	KCNA5	c.983A= (p.Glu328=)
12	g.5045130A>C	CA383465529	KCNA5	c.983A>C (p.Glu328Ala)
12	g.5045130A>G	CA383465530	KCNA5	c.983A>G (p.Glu328Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045130A>T	CA383465531	KCNA5	c.983A>T (p.Glu328Val)
12	g.5045131G>A	CA478095515	KCNA5	c.984G>A (p.Glu328=)
12	g.5045131G>C	CA383465532	KCNA5	c.984G>C (p.Glu328Asp)
12	g.5045131G>T	CA383465533	KCNA5	c.984G>T (p.Glu328Asp)
12	g.5045132A=	CA2013431086	KCNA5	c.985A= (p.Thr329=)
12	g.5045132A>C	CA383465534	KCNA5	c.985A>C (p.Thr329Pro)
12	g.5045132A>G	CA383465536	KCNA5	c.985A>G (p.Thr329Ala)	ClinVar dbSNP
12	g.5045132A>T	CA383465535	KCNA5	c.985A>T (p.Thr329Ser)	dbSNP
12	g.5045133C>A	CA383465537	KCNA5	c.986C>A (p.Thr329Asn)
12	g.5045133C>G	CA383465539	KCNA5	c.986C>G (p.Thr329Ser)
12	g.5045133C>T	CA383465538	KCNA5	c.986C>T (p.Thr329Ile)
12	g.5045134C>A	CA478095518	KCNA5	c.987C>A (p.Thr329=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045134C=	CA2013431087	KCNA5	c.987C= (p.Thr329=)
12	g.5045134C>G	CA478095520	KCNA5	c.987C>G (p.Thr329=)
12	g.5045134C>T	CA478095519	KCNA5	c.987C>T (p.Thr329=)	dbSNP gnomAD v4
12	g.5045135A>C	CA383465540	KCNA5	c.988A>C (p.Thr330Pro)
12	g.5045135A>G	CA383465541	KCNA5	c.988A>G (p.Thr330Ala)
12	g.5045135A>T	CA383465542	KCNA5	c.988A>T (p.Thr330Ser)
12	g.5045136C>A	CA6399779	KCNA5	c.989C>A (p.Thr330Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045136C=	CA2013431088	KCNA5	c.989C= (p.Thr330=)
12	g.5045136C>G	CA383465543	KCNA5	c.989C>G (p.Thr330Arg)
12	g.5045136C>T	CA6399778	KCNA5	c.989C>T (p.Thr330Met)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045137del	CA2617209912	KCNA5	c.990del (p.Cys331AlafsTer27)	gnomAD v4
12	g.5045137G>A	CA478095524	KCNA5	c.990G>A (p.Thr330=)	dbSNP gnomAD v2
12	g.5045137G>C	CA478095526	KCNA5	c.990G>C (p.Thr330=)
12	g.5045137G=	CA2013431089	KCNA5	c.990G= (p.Thr330=)
12	g.5045137G>T	CA478095525	KCNA5	c.990G>T (p.Thr330=)	gnomAD v4
12	g.5045138T>A	CA383465544	KCNA5	c.991T>A (p.Cys331Ser)
12	g.5045138T>C	CA383465545	KCNA5	c.991T>C (p.Cys331Arg)
12	g.5045138T>G	CA383465546	KCNA5	c.991T>G (p.Cys331Gly)
12	g.5045139G>A	CA383465547	KCNA5	c.992G>A (p.Cys331Tyr)
12	g.5045139G>C	CA383465548	KCNA5	c.992G>C (p.Cys331Ser)
12	g.5045139G>T	CA383465549	KCNA5	c.992G>T (p.Cys331Phe)	gnomAD v4
12	g.5045140C>A	CA383465551	KCNA5	c.993C>A (p.Cys331Ter)
12	g.5045140C>G	CA383465550	KCNA5	c.993C>G (p.Cys331Trp)	dbSNP
12	g.5045140C>T	CA478095528	KCNA5	c.993C>T (p.Cys331=)
12	g.5045141G>A	CA383465552	KCNA5	c.994G>A (p.Val332Ile)	gnomAD v4 COSMIC
12	g.5045141G>C	CA383465553	KCNA5	c.994G>C (p.Val332Leu)
12	g.5045141G=	CA2013431090	KCNA5	c.994G= (p.Val332=)
12	g.5045141G>T	CA383465554	KCNA5	c.994G>T (p.Val332Phe)	dbSNP gnomAD v2 gnomAD v4
12	g.5045142T>A	CA383465555	KCNA5	c.995T>A (p.Val332Asp)
12	g.5045142T>C	CA383465556	KCNA5	c.995T>C (p.Val332Ala)
12	g.5045142T>G	CA383465557	KCNA5	c.995T>G (p.Val332Gly)
12	g.5045143C>A	CA478095534	KCNA5	c.996C>A (p.Val332=)
12	g.5045143C>G	CA478095535	KCNA5	c.996C>G (p.Val332=)
12	g.5045143C>T	CA478095533	KCNA5	c.996C>T (p.Val332=)	gnomAD v4
12	g.5045144A=	CA2013431091	KCNA5	c.997A= (p.Ile333=)
12	g.5045144A>C	CA383465558	KCNA5	c.997A>C (p.Ile333Leu)
12	g.5045144A>G	CA383465559	KCNA5	c.997A>G (p.Ile333Val)
12	g.5045144A>T	CA6399780	KCNA5	c.997A>T (p.Ile333Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045145T>A	CA383465560	KCNA5	c.998T>A (p.Ile333Asn)
12	g.5045145T>C	CA6399781	KCNA5	c.998T>C (p.Ile333Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045145T>G	CA383465561	KCNA5	c.998T>G (p.Ile333Ser)
12	g.5045145T=	CA2013431092	KCNA5	c.998T= (p.Ile333=)
12	g.5045146C>A	CA478095537	KCNA5	c.999C>A (p.Ile333=)
12	g.5045146C>G	CA383465562	KCNA5	c.999C>G (p.Ile333Met)
12	g.5045146C>T	CA478095539	KCNA5	c.999C>T (p.Ile333=)
12	g.5045147T>A	CA383465565	KCNA5	c.1000T>A (p.Trp334Arg)
12	g.5045147T>C	CA383465563	KCNA5	c.1000T>C (p.Trp334Arg)	gnomAD v4
12	g.5045147T>G	CA383465564	KCNA5	c.1000T>G (p.Trp334Gly)	dbSNP
12	g.5045147T=	CA2013431093	KCNA5	c.1000T= (p.Trp334=)
12	g.5045148G>A	CA383465566	KCNA5	c.1001G>A (p.Trp334Ter)	gnomAD v4
12	g.5045148G>C	CA383465567	KCNA5	c.1001G>C (p.Trp334Ser)	gnomAD v4
12	g.5045148G>T	CA383465568	KCNA5	c.1001G>T (p.Trp334Leu)	gnomAD v4
12	g.5045149G>A	CA383465569	KCNA5	c.1002G>A (p.Trp334Ter)
12	g.5045149G>C	CA383465570	KCNA5	c.1002G>C (p.Trp334Cys)	gnomAD v4
12	g.5045149G>T	CA383465571	KCNA5	c.1002G>T (p.Trp334Cys)
12	g.5045150T>A	CA383465572	KCNA5	c.1003T>A (p.Phe335Ile)
12	g.5045150T>C	CA383465573	KCNA5	c.1003T>C (p.Phe335Leu)
12	g.5045150T>G	CA383465574	KCNA5	c.1003T>G (p.Phe335Val)
12	g.5045151T>A	CA383465575	KCNA5	c.1004T>A (p.Phe335Tyr)
12	g.5045151T>C	CA6399782	KCNA5	c.1004T>C (p.Phe335Ser)	dbSNP ExAC gnomAD v2
12	g.5045151T>G	CA383465576	KCNA5	c.1004T>G (p.Phe335Cys)
12	g.5045151T=	CA2013431094	KCNA5	c.1004T= (p.Phe335=)
12	g.5045152C>A	CA383465577	KCNA5	c.1005C>A (p.Phe335Leu)
12	g.5045152C=	CA2013431095	KCNA5	c.1005C= (p.Phe335=)
12	g.5045152C>G	CA231868313	KCNA5	c.1005C>G (p.Phe335Leu)	dbSNP
12	g.5045152C>T	CA478095542	KCNA5	c.1005C>T (p.Phe335=)	ClinVar dbSNP gnomAD v4
12	g.5045153A=	CA2013431096	KCNA5	c.1006A= (p.Thr336=)
12	g.5045153A>C	CA383465578	KCNA5	c.1006A>C (p.Thr336Pro)	dbSNP
12	g.5045153A>G	CA383465579	KCNA5	c.1006A>G (p.Thr336Ala)
12	g.5045153A>T	CA383465580	KCNA5	c.1006A>T (p.Thr336Ser)	ClinVar
12	g.5045154C>A	CA383465581	KCNA5	c.1007C>A (p.Thr336Asn)
12	g.5045154C=	CA2013431097	KCNA5	c.1007C= (p.Thr336=)
12	g.5045154C>G	CA383465582	KCNA5	c.1007C>G (p.Thr336Ser)
12	g.5045154C>T	CA383465583	KCNA5	c.1007C>T (p.Thr336Ile)	dbSNP gnomAD v3 gnomAD v4
12	g.5045155C>A	CA478095543	KCNA5	c.1008C>A (p.Thr336=)
12	g.5045155C=	CA2013431098	KCNA5	c.1008C= (p.Thr336=)
12	g.5045155C>G	CA478095544	KCNA5	c.1008C>G (p.Thr336=)
12	g.5045155C>T	CA478095547	KCNA5	c.1008C>T (p.Thr336=)	dbSNP gnomAD v4
12	g.5045156T>A	CA383465584	KCNA5	c.1009T>A (p.Phe337Ile)
12	g.5045156T>C	CA6399783	KCNA5	c.1009T>C (p.Phe337Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045156T>G	CA383465585	KCNA5	c.1009T>G (p.Phe337Val)
12	g.5045156T=	CA2013431099	KCNA5	c.1009T= (p.Phe337=)
12	g.5045157T>A	CA383465586	KCNA5	c.1010T>A (p.Phe337Tyr)
12	g.5045157T>C	CA383465587	KCNA5	c.1010T>C (p.Phe337Ser)
12	g.5045157T>G	CA383465588	KCNA5	c.1010T>G (p.Phe337Cys)
12	g.5045158C>A	CA383465590	KCNA5	c.1011C>A (p.Phe337Leu)	dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.5045158C=	CA2013431100	KCNA5	c.1011C= (p.Phe337=)
12	g.5045158C>G	CA383465589	KCNA5	c.1011C>G (p.Phe337Leu)
12	g.5045158C>T	CA231868316	KCNA5	c.1011C>T (p.Phe337=)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.5045159G>A	CA383465591	KCNA5	c.1012G>A (p.Glu338Lys)	dbSNP gnomAD v2 gnomAD v4
12	g.5045159G>C	CA383465593	KCNA5	c.1012G>C (p.Glu338Gln)	gnomAD v4
12	g.5045159G=	CA2013431101	KCNA5	c.1012G= (p.Glu338=)
12	g.5045159G>T	CA383465592	KCNA5	c.1012G>T (p.Glu338Ter)
12	g.5045160A>C	CA383465594	KCNA5	c.1013A>C (p.Glu338Ala)
12	g.5045160A>G	CA383465596	KCNA5	c.1013A>G (p.Glu338Gly)
12	g.5045160A>T	CA383465595	KCNA5	c.1013A>T (p.Glu338Val)
12	g.5045161G>A	CA478095552	KCNA5	c.1014G>A (p.Glu338=)
12	g.5045161G>C	CA383465597	KCNA5	c.1014G>C (p.Glu338Asp)
12	g.5045161G>T	CA383465598	KCNA5	c.1014G>T (p.Glu338Asp)
12	g.5045161_5045181delinsGCTGCTCGTGCGCTTCTTCGC	CA2013431102	KCNA5	c.1014_1034delinsGCTGCTCGTGCGCTTCTTCGC (p.Glu338=)
12	g.5045162C>A	CA383465599	KCNA5	c.1015C>A (p.Leu339Met)	gnomAD v4
12	g.5045162C>G	CA383465600	KCNA5	c.1015C>G (p.Leu339Val)
12	g.5045162C>T	CA478095555	KCNA5	c.1015C>T (p.Leu339=)
12	g.5045166_5045185del	CA2013431103	KCNA5	c.1019_1038del (p.Leu340ProfsTer?)	dbSNP gnomAD v4
12	g.5045163T>A	CA383465601	KCNA5	c.1016T>A (p.Leu339Gln)
12	g.5045163T>C	CA383465602	KCNA5	c.1016T>C (p.Leu339Pro)
12	g.5045163T>G	CA383465603	KCNA5	c.1016T>G (p.Leu339Arg)
12	g.5045164G>A	CA478095557	KCNA5	c.1017G>A (p.Leu339=)
12	g.5045164G>C	CA478095558	KCNA5	c.1017G>C (p.Leu339=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045164G=	CA2013431104	KCNA5	c.1017G= (p.Leu339=)
12	g.5045164G>T	CA478095559	KCNA5	c.1017G>T (p.Leu339=)
12	g.5045165C>A	CA383465604	KCNA5	c.1018C>A (p.Leu340Ile)
12	g.5045165C=	CA2013431105	KCNA5	c.1018C= (p.Leu340=)
12	g.5045165C>G	CA383465605	KCNA5	c.1018C>G (p.Leu340Val)
12	g.5045165C>T	CA6399784	KCNA5	c.1018C>T (p.Leu340Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045166T>A	CA383465608	KCNA5	c.1019T>A (p.Leu340His)
12	g.5045166T>C	CA383465607	KCNA5	c.1019T>C (p.Leu340Pro)
12	g.5045166T>G	CA383465606	KCNA5	c.1019T>G (p.Leu340Arg)

Number of alleles fetched