Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5044978T>A	CA383465247	KCNA5	c.831T>A (p.Asp277Glu)	gnomAD v4
12	g.5044978T>C	CA478095197	KCNA5	c.831T>C (p.Asp277=)	gnomAD v4
12	g.5044978T>G	CA383465248	KCNA5	c.831T>G (p.Asp277Glu)	dbSNP gnomAD v2 gnomAD v4
12	g.5044978T=	CA2013430989	KCNA5	c.831T= (p.Asp277=)
12	g.5044979G>A	CA383465249	KCNA5	c.832G>A (p.Glu278Lys)
12	g.5044979G>C	CA383465250	KCNA5	c.832G>C (p.Glu278Gln)
12	g.5044979G>T	CA383465251	KCNA5	c.832G>T (p.Glu278Ter)
12	g.5044980A>C	CA383465252	KCNA5	c.833A>C (p.Glu278Ala)
12	g.5044980A>G	CA383465254	KCNA5	c.833A>G (p.Glu278Gly)
12	g.5044980A>T	CA383465253	KCNA5	c.833A>T (p.Glu278Val)
12	g.5044981A=	CA2013430990	KCNA5	c.834A= (p.Glu278=)
12	g.5044981A>C	CA383465255	KCNA5	c.834A>C (p.Glu278Asp)	dbSNP gnomAD v4
12	g.5044981A>G	CA478095210	KCNA5	c.834A>G (p.Glu278=)	gnomAD v4
12	g.5044981A>T	CA383465256	KCNA5	c.834A>T (p.Glu278Asp)
12	g.5044982C>A	CA383465257	KCNA5	c.835C>A (p.Arg279Ser)	COSMIC
12	g.5044982C=	CA2013430991	KCNA5	c.835C= (p.Arg279=)
12	g.5044982C>G	CA383465258	KCNA5	c.835C>G (p.Arg279Gly)
12	g.5044982C>T	CA6399726	KCNA5	c.835C>T (p.Arg279Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5044983G>A	CA6399727	KCNA5	c.836G>A (p.Arg279His)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044983G>C	CA383465259	KCNA5	c.836G>C (p.Arg279Pro)	gnomAD v4
12	g.5044983G=	CA2013430992	KCNA5	c.836G= (p.Arg279=)
12	g.5044983G>T	CA383465260	KCNA5	c.836G>T (p.Arg279Leu)	dbSNP
12	g.5044984T>A	CA6399728	KCNA5	c.837T>A (p.Arg279=)	dbSNP ExAC gnomAD v2
12	g.5044984T>C	CA478095211	KCNA5	c.837T>C (p.Arg279=)
12	g.5044984T>G	CA478095212	KCNA5	c.837T>G (p.Arg279=)
12	g.5044984T=	CA2013430993	KCNA5	c.837T= (p.Arg279=)
12	g.5044985G>A	CA383465261	KCNA5	c.838G>A (p.Glu280Lys)
12	g.5044985G>C	CA383465262	KCNA5	c.838G>C (p.Glu280Gln)
12	g.5044985G>T	CA383465263	KCNA5	c.838G>T (p.Glu280Ter)
12	g.5044986A>C	CA383465266	KCNA5	c.839A>C (p.Glu280Ala)
12	g.5044986A>G	CA383465264	KCNA5	c.839A>G (p.Glu280Gly)
12	g.5044986A>T	CA383465265	KCNA5	c.839A>T (p.Glu280Val)
12	g.5044987G>A	CA478095215	KCNA5	c.840G>A (p.Glu280=)
12	g.5044987G>C	CA383465267	KCNA5	c.840G>C (p.Glu280Asp)
12	g.5044987G>T	CA383465268	KCNA5	c.840G>T (p.Glu280Asp)	gnomAD v4
12	g.5044988C>A	CA383465269	KCNA5	c.841C>A (p.Leu281Met)	gnomAD v4 COSMIC
12	g.5044988C=	CA2013430994	KCNA5	c.841C= (p.Leu281=)
12	g.5044988C>G	CA383465270	KCNA5	c.841C>G (p.Leu281Val)
12	g.5044988C>T	CA478095216	KCNA5	c.841C>T (p.Leu281=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044988_5044989delinsTA	CA645578787	KCNA5	c.841_842delinsTA (p.Leu281Ter)	COSMIC
12	g.5044989T>A	CA383465271	KCNA5	c.842T>A (p.Leu281Gln)
12	g.5044989T>C	CA383465272	KCNA5	c.842T>C (p.Leu281Pro)
12	g.5044989T>G	CA383465273	KCNA5	c.842T>G (p.Leu281Arg)
12	g.5044990G>A	CA6399729	KCNA5	c.843G>A (p.Leu281=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5044990G>C	CA478095218	KCNA5	c.843G>C (p.Leu281=)	dbSNP gnomAD v2
12	g.5044990G=	CA2013430995	KCNA5	c.843G= (p.Leu281=)
12	g.5044990G>T	CA231867974	KCNA5	c.843G>T (p.Leu281=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044991C>A	CA383465274	KCNA5	c.844C>A (p.Leu282Ile)
12	g.5044991C>G	CA383465275	KCNA5	c.844C>G (p.Leu282Val)
12	g.5044991C>T	CA383465276	KCNA5	c.844C>T (p.Leu282Phe)	gnomAD v4
12	g.5044992T>A	CA383465278	KCNA5	c.845T>A (p.Leu282His)
12	g.5044992T>C	CA383465279	KCNA5	c.845T>C (p.Leu282Pro)	gnomAD v4
12	g.5044992T>G	CA383465277	KCNA5	c.845T>G (p.Leu282Arg)
12	g.5044992T=	CA2013430996	KCNA5	c.845T= (p.Leu282=)
12	g.5044993C>A	CA478095225	KCNA5	c.846C>A (p.Leu282=)
12	g.5044993C=	CA2013430997	KCNA5	c.846C= (p.Leu282=)
12	g.5044993C>G	CA478095224	KCNA5	c.846C>G (p.Leu282=)
12	g.5044993C>T	CA478095223	KCNA5	c.846C>T (p.Leu282=)	dbSNP gnomAD v3 gnomAD v4
12	g.5044994del	CA2617209906	KCNA5	c.847del (p.Arg283AlafsTer?)	gnomAD v4
12	g.5044995_5045012dup	CA6399730	KCNA5	c.848_865dup (p.Pro288_His289insArgHisProProAlaPro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044995_5045012del	CA2617209905	KCNA5	c.848_865del (p.Arg283_Pro288del)	gnomAD v4
12	g.5044994C>A	CA383465280	KCNA5	c.847C>A (p.Arg283Ser)
12	g.5044994C=	CA2013430998	KCNA5	c.847C= (p.Arg283=)
12	g.5044994C>G	CA383465281	KCNA5	c.847C>G (p.Arg283Gly)
12	g.5044994C>T	CA10641639	KCNA5	c.847C>T (p.Arg283Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5044995G>A	CA6399731	KCNA5	c.848G>A (p.Arg283His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044995G>C	CA383465282	KCNA5	c.848G>C (p.Arg283Pro)	gnomAD v4
12	g.5044995G=	CA2013431000	KCNA5	c.848G= (p.Arg283=)
12	g.5044995G>T	CA383465283	KCNA5	c.848G>T (p.Arg283Leu)	dbSNP gnomAD v2 gnomAD v4
12	g.5044995_5045013delinsGCCACCCTCCGGCGCCCCA	CA2013430999	KCNA5	c.848_866delinsGCCACCCTCCGGCGCCCCA (p.Arg283=)
12	g.5044996C>A	CA478095230	KCNA5	c.849C>A (p.Arg283=)
12	g.5044996C=	CA2013431001	KCNA5	c.849C= (p.Arg283=)
12	g.5044996C>G	CA478095228	KCNA5	c.849C>G (p.Arg283=)
12	g.5044996C>T	CA478095229	KCNA5	c.849C>T (p.Arg283=)	dbSNP gnomAD v3 gnomAD v4
12	g.5044999_5045016del	CA6399732	KCNA5	c.852_869del (p.His284_His289del)	ClinVar dbSNP ExAC gnomAD v4
12	g.5044997C>A	CA383465284	KCNA5	c.850C>A (p.His284Asn)
12	g.5044997C=	CA2013431002	KCNA5	c.850C= (p.His284=)
12	g.5044997C>G	CA383465285	KCNA5	c.850C>G (p.His284Asp)
12	g.5044997C>T	CA6399733	KCNA5	c.850C>T (p.His284Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044998A>C	CA383465286	KCNA5	c.851A>C (p.His284Pro)
12	g.5044998A>G	CA383465287	KCNA5	c.851A>G (p.His284Arg)
12	g.5044998A>T	CA383465288	KCNA5	c.851A>T (p.His284Leu)
12	g.5044999C>A	CA383465290	KCNA5	c.852C>A (p.His284Gln)
12	g.5044999C=	CA2013431003	KCNA5	c.852C= (p.His284=)
12	g.5044999C>G	CA383465289	KCNA5	c.852C>G (p.His284Gln)
12	g.5044999C>T	CA6399734	KCNA5	c.852C>T (p.His284=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045000C>A	CA383465291	KCNA5	c.853C>A (p.Pro285Thr)
12	g.5045000C=	CA2013431004	KCNA5	c.853C= (p.Pro285=)
12	g.5045000C>G	CA383465292	KCNA5	c.853C>G (p.Pro285Ala)	ClinVar dbSNP gnomAD v4 COSMIC
12	g.5045000C>T	CA383465293	KCNA5	c.853C>T (p.Pro285Ser)
12	g.5045001C>A	CA383465294	KCNA5	c.854C>A (p.Pro285His)	gnomAD v4
12	g.5045001C=	CA2013431005	KCNA5	c.854C= (p.Pro285=)
12	g.5045001C>G	CA383465295	KCNA5	c.854C>G (p.Pro285Arg)	dbSNP gnomAD v3 gnomAD v4
12	g.5045001C>T	CA383465296	KCNA5	c.854C>T (p.Pro285Leu)
12	g.5045002T>A	CA478095236	KCNA5	c.855T>A (p.Pro285=)
12	g.5045002T>C	CA478095238	KCNA5	c.855T>C (p.Pro285=)
12	g.5045002T>G	CA478095237	KCNA5	c.855T>G (p.Pro285=)
12	g.5045003C>A	CA383465297	KCNA5	c.856C>A (p.Pro286Thr)
12	g.5045003C>G	CA383465298	KCNA5	c.856C>G (p.Pro286Ala)
12	g.5045003C>T	CA383465299	KCNA5	c.856C>T (p.Pro286Ser)
12	g.5045004C>A	CA383465300	KCNA5	c.857C>A (p.Pro286Gln)	gnomAD v4
12	g.5045004C=	CA2013431006	KCNA5	c.857C= (p.Pro286=)
12	g.5045004C>G	CA383465301	KCNA5	c.857C>G (p.Pro286Arg)
12	g.5045004C>T	CA6399735	KCNA5	c.857C>T (p.Pro286Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045005G>A	CA6399736	KCNA5	c.858G>A (p.Pro286=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045005G>C	CA478095241	KCNA5	c.858G>C (p.Pro286=)	gnomAD v4
12	g.5045005G=	CA2013431007	KCNA5	c.858G= (p.Pro286=)
12	g.5045005G>T	CA478095242	KCNA5	c.858G>T (p.Pro286=)
12	g.5045006G>A	CA383465303	KCNA5	c.859G>A (p.Ala287Thr)	gnomAD v4
12	g.5045006G>C	CA383465302	KCNA5	c.859G>C (p.Ala287Pro)
12	g.5045006G=	CA2013431008	KCNA5	c.859G= (p.Ala287=)
12	g.5045006G>T	CA6399737	KCNA5	c.859G>T (p.Ala287Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045006_5045007delinsGC	CA2013431009	KCNA5	c.859_860delinsGC (p.Ala287=)
12	g.5045006_5045007delinsTT	CA913190307	KCNA5	c.859_860delinsTT (p.Ala287Leu)	ClinVar dbSNP
12	g.5045007C>A	CA383465304	KCNA5	c.860C>A (p.Ala287Glu)	ClinVar gnomAD v4
12	g.5045007C=	CA2013431010	KCNA5	c.860C= (p.Ala287=)
12	g.5045007C>G	CA383465305	KCNA5	c.860C>G (p.Ala287Gly)
12	g.5045007C>T	CA6399738	KCNA5	c.860C>T (p.Ala287Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045008G>A	CA478095246	KCNA5	c.861G>A (p.Ala287=)	gnomAD v4 COSMIC
12	g.5045008G>C	CA478095244	KCNA5	c.861G>C (p.Ala287=)
12	g.5045008G>T	CA478095245	KCNA5	c.861G>T (p.Ala287=)	gnomAD v4
12	g.5045009C>A	CA383465306	KCNA5	c.862C>A (p.Pro288Thr)
12	g.5045009C>G	CA383465307	KCNA5	c.862C>G (p.Pro288Ala)
12	g.5045009C>T	CA383465308	KCNA5	c.862C>T (p.Pro288Ser)	gnomAD v4
12	g.5045010C>A	CA383465309	KCNA5	c.863C>A (p.Pro288His)
12	g.5045010C>G	CA383465310	KCNA5	c.863C>G (p.Pro288Arg)
12	g.5045010C>T	CA383465311	KCNA5	c.863C>T (p.Pro288Leu)
12	g.5045011C>A	CA478095247	KCNA5	c.864C>A (p.Pro288=)
12	g.5045011C=	CA2013431011	KCNA5	c.864C= (p.Pro288=)
12	g.5045011C>G	CA478095248	KCNA5	c.864C>G (p.Pro288=)
12	g.5045011C>T	CA478095249	KCNA5	c.864C>T (p.Pro288=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045012C>A	CA383465312	KCNA5	c.865C>A (p.His289Asn)
12	g.5045012C=	CA2013431012	KCNA5	c.865C= (p.His289=)
12	g.5045012C>G	CA383465313	KCNA5	c.865C>G (p.His289Asp)
12	g.5045012C>T	CA383465314	KCNA5	c.865C>T (p.His289Tyr)	dbSNP gnomAD v2 gnomAD v4
12	g.5045013A>C	CA383465315	KCNA5	c.866A>C (p.His289Pro)
12	g.5045013A>G	CA383465316	KCNA5	c.866A>G (p.His289Arg)	gnomAD v4 COSMIC
12	g.5045013A>T	CA383465317	KCNA5	c.866A>T (p.His289Leu)
12	g.5045014C>A	CA383465318	KCNA5	c.867C>A (p.His289Gln)	dbSNP
12	g.5045014C>G	CA383465319	KCNA5	c.867C>G (p.His289Gln)
12	g.5045014C>T	CA478095252	KCNA5	c.867C>T (p.His289=)
12	g.5045015C>A	CA6399739	KCNA5	c.868C>A (p.Gln290Lys)	dbSNP ExAC gnomAD v2 COSMIC
12	g.5045015C=	CA2013431013	KCNA5	c.868C= (p.Gln290=)
12	g.5045015C>G	CA383465320	KCNA5	c.868C>G (p.Gln290Glu)
12	g.5045015C>T	CA383465321	KCNA5	c.868C>T (p.Gln290Ter)
12	g.5045015_5045016insCCCCAAACACACCCAACAC	CA2794382109	KCNA5	c.868_869insCCCCAAACACACCCAACAC (p.Gln290ProfsTer?)
12	g.5045016_5045017insAACCAAACACACCCAACACA	CA2794382108	KCNA5	c.869_870insAACCAAACACACCCAACACA (p.Pro291ThrfsTer?)
12	g.5045016A>C	CA383465322	KCNA5	c.869A>C (p.Gln290Pro)
12	g.5045016A>G	CA383465323	KCNA5	c.869A>G (p.Gln290Arg)
12	g.5045016A>T	CA383465324	KCNA5	c.869A>T (p.Gln290Leu)
12	g.5045017G>A	CA6399740	KCNA5	c.870G>A (p.Gln290=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045017G>C	CA383465325	KCNA5	c.870G>C (p.Gln290His)
12	g.5045017G=	CA2013431014	KCNA5	c.870G= (p.Gln290=)
12	g.5045017G>T	CA383465326	KCNA5	c.870G>T (p.Gln290His)
12	g.5045018C>A	CA383465327	KCNA5	c.871C>A (p.Pro291Thr)
12	g.5045018C=	CA2013431015	KCNA5	c.871C= (p.Pro291=)
12	g.5045018C>G	CA231868038	KCNA5	c.871C>G (p.Pro291Ala)	dbSNP gnomAD v3 gnomAD v4
12	g.5045018C>T	CA383465328	KCNA5	c.871C>T (p.Pro291Ser)
12	g.5045019C>A	CA383465329	KCNA5	c.872C>A (p.Pro291His)
12	g.5045019C>G	CA383465331	KCNA5	c.872C>G (p.Pro291Arg)
12	g.5045019C>T	CA383465330	KCNA5	c.872C>T (p.Pro291Leu)	gnomAD v4
12	g.5045020T>A	CA478095256	KCNA5	c.873T>A (p.Pro291=)
12	g.5045020T>C	CA478095258	KCNA5	c.873T>C (p.Pro291=)
12	g.5045020T>G	CA478095257	KCNA5	c.873T>G (p.Pro291=)
12	g.5045021C>A	CA383465332	KCNA5	c.874C>A (p.Pro292Thr)
12	g.5045021C=	CA2013431016	KCNA5	c.874C= (p.Pro292=)
12	g.5045021C>G	CA383465333	KCNA5	c.874C>G (p.Pro292Ala)
12	g.5045021C>T	CA231868040	KCNA5	c.874C>T (p.Pro292Ser)	dbSNP gnomAD v3 gnomAD v4
12	g.5045022C>A	CA383465334	KCNA5	c.875C>A (p.Pro292His)
12	g.5045022C=	CA2013431017	KCNA5	c.875C= (p.Pro292=)
12	g.5045022C>G	CA383465335	KCNA5	c.875C>G (p.Pro292Arg)
12	g.5045022C>T	CA383465336	KCNA5	c.875C>T (p.Pro292Leu)	dbSNP gnomAD v4
12	g.5045023C>A	CA478095263	KCNA5	c.876C>A (p.Pro292=)	gnomAD v4
12	g.5045023C=	CA2013431018	KCNA5	c.876C= (p.Pro292=)
12	g.5045023C>G	CA478095264	KCNA5	c.876C>G (p.Pro292=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045023C>T	CA6399741	KCNA5	c.876C>T (p.Pro292=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045024G>A	CA231868047	KCNA5	c.877G>A (p.Ala293Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045024G>C	CA383465337	KCNA5	c.877G>C (p.Ala293Pro)
12	g.5045024G=	CA2013431019	KCNA5	c.877G= (p.Ala293=)
12	g.5045024G>T	CA383465338	KCNA5	c.877G>T (p.Ala293Ser)
12	g.5045025C>A	CA383465339	KCNA5	c.878C>A (p.Ala293Glu)
12	g.5045025C>G	CA383465340	KCNA5	c.878C>G (p.Ala293Gly)
12	g.5045025C>T	CA383465341	KCNA5	c.878C>T (p.Ala293Val)	COSMIC
12	g.5045026G>A	CA478095268	KCNA5	c.879G>A (p.Ala293=)	dbSNP gnomAD v4
12	g.5045026G>C	CA478095270	KCNA5	c.879G>C (p.Ala293=)
12	g.5045026G=	CA2013431020	KCNA5	c.879G= (p.Ala293=)
12	g.5045026G>T	CA478095269	KCNA5	c.879G>T (p.Ala293=)	ClinVar dbSNP gnomAD v2
12	g.5045027C>A	CA383465344	KCNA5	c.880C>A (p.Pro294Thr)
12	g.5045027C=	CA2013431021	KCNA5	c.880C= (p.Pro294=)
12	g.5045027C>G	CA383465343	KCNA5	c.880C>G (p.Pro294Ala)
12	g.5045027C>T	CA383465342	KCNA5	c.880C>T (p.Pro294Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045028C>A	CA383465345	KCNA5	c.881C>A (p.Pro294His)
12	g.5045028C>G	CA383465346	KCNA5	c.881C>G (p.Pro294Arg)
12	g.5045028C>T	CA383465347	KCNA5	c.881C>T (p.Pro294Leu)	gnomAD v4
12	g.5045029C>A	CA6399742	KCNA5	c.882C>A (p.Pro294=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045029C=	CA2013431022	KCNA5	c.882C= (p.Pro294=)
12	g.5045029C>G	CA478095273	KCNA5	c.882C>G (p.Pro294=)	gnomAD v4
12	g.5045029C>T	CA478095274	KCNA5	c.882C>T (p.Pro294=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045030G>A	CA383465348	KCNA5	c.883G>A (p.Ala295Thr)	gnomAD v4 COSMIC
12	g.5045030G>C	CA383465349	KCNA5	c.883G>C (p.Ala295Pro)
12	g.5045030G>T	CA383465350	KCNA5	c.883G>T (p.Ala295Ser)	ClinVar gnomAD v4 COSMIC
12	g.5045031C>A	CA231868055	KCNA5	c.884C>A (p.Ala295Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045031C=	CA2013431023	KCNA5	c.884C= (p.Ala295=)
12	g.5045031C>G	CA383465351	KCNA5	c.884C>G (p.Ala295Gly)
12	g.5045031C>T	CA383465352	KCNA5	c.884C>T (p.Ala295Val)	gnomAD v4
12	g.5045032C>A	CA478095276	KCNA5	c.885C>A (p.Ala295=)
12	g.5045032C=	CA2013431024	KCNA5	c.885C= (p.Ala295=)
12	g.5045032C>G	CA478095277	KCNA5	c.885C>G (p.Ala295=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045032C>T	CA6399743	KCNA5	c.885C>T (p.Ala295=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045033C>A	CA383465353	KCNA5	c.886C>A (p.Pro296Thr)
12	g.5045033C=	CA2013431025	KCNA5	c.886C= (p.Pro296=)
12	g.5045033C>G	CA383465354	KCNA5	c.886C>G (p.Pro296Ala)
12	g.5045033C>T	CA383465355	KCNA5	c.886C>T (p.Pro296Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045034C>A	CA383465357	KCNA5	c.887C>A (p.Pro296His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045034C=	CA2013431026	KCNA5	c.887C= (p.Pro296=)
12	g.5045034C>G	CA383465358	KCNA5	c.887C>G (p.Pro296Arg)
12	g.5045034C>T	CA383465356	KCNA5	c.887C>T (p.Pro296Leu)	gnomAD v4
12	g.5045035del	CA2697559074	KCNA5	c.888del (p.Ala298ProfsTer?)	ClinVar
12	g.5045035T>A	CA478095278	KCNA5	c.888T>A (p.Pro296=)
12	g.5045035T>C	CA478095279	KCNA5	c.888T>C (p.Pro296=)
12	g.5045035T>G	CA478095280	KCNA5	c.888T>G (p.Pro296=)
12	g.5045036G>A	CA383465359	KCNA5	c.889G>A (p.Gly297Arg)	gnomAD v4
12	g.5045036G>C	CA383465360	KCNA5	c.889G>C (p.Gly297Arg)
12	g.5045036G>T	CA383465361	KCNA5	c.889G>T (p.Gly297Trp)
12	g.5045037G>A	CA6399744	KCNA5	c.890G>A (p.Gly297Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045037G>C	CA383465362	KCNA5	c.890G>C (p.Gly297Ala)
12	g.5045037G=	CA2013431027	KCNA5	c.890G= (p.Gly297=)
12	g.5045037G>T	CA383465363	KCNA5	c.890G>T (p.Gly297Val)
12	g.5045038G>A	CA478095281	KCNA5	c.891G>A (p.Gly297=)	dbSNP
12	g.5045038G>C	CA478095282	KCNA5	c.891G>C (p.Gly297=)
12	g.5045038G=	CA2013431028	KCNA5	c.891G= (p.Gly297=)
12	g.5045038G>T	CA478095283	KCNA5	c.891G>T (p.Gly297=)	gnomAD v4
12	g.5045039G>A	CA383465364	KCNA5	c.892G>A (p.Ala298Thr)
12	g.5045039G>C	CA383465365	KCNA5	c.892G>C (p.Ala298Pro)
12	g.5045039G>T	CA383465366	KCNA5	c.892G>T (p.Ala298Ser)
12	g.5045040C>A	CA383465367	KCNA5	c.893C>A (p.Ala298Asp)
12	g.5045040C>G	CA383465368	KCNA5	c.893C>G (p.Ala298Gly)
12	g.5045040C>T	CA383465369	KCNA5	c.893C>T (p.Ala298Val)
12	g.5045041C>A	CA478095284	KCNA5	c.894C>A (p.Ala298=)
12	g.5045041C>G	CA478095286	KCNA5	c.894C>G (p.Ala298=)
12	g.5045041C>T	CA478095285	KCNA5	c.894C>T (p.Ala298=)
12	g.5045042A>C	CA383465372	KCNA5	c.895A>C (p.Asn299His)
12	g.5045042A>G	CA383465370	KCNA5	c.895A>G (p.Asn299Asp)
12	g.5045042A>T	CA383465371	KCNA5	c.895A>T (p.Asn299Tyr)	gnomAD v4
12	g.5045043A>C	CA383465373	KCNA5	c.896A>C (p.Asn299Thr)
12	g.5045043A>G	CA383465374	KCNA5	c.896A>G (p.Asn299Ser)
12	g.5045043A>T	CA383465375	KCNA5	c.896A>T (p.Asn299Ile)
12	g.5045044C>A	CA383465376	KCNA5	c.897C>A (p.Asn299Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045044C=	CA2013431029	KCNA5	c.897C= (p.Asn299=)
12	g.5045044C>G	CA6399746	KCNA5	c.897C>G (p.Asn299Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045044C>T	CA6399745	KCNA5	c.897C>T (p.Asn299=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.5045047_5045052dup	CA2617209907	KCNA5	c.900_905dup (p.Gly302_Val303insSerGly)	gnomAD v4
12	g.5045045G>A	CA236719	KCNA5	c.898G>A (p.Gly300Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045045G>C	CA6399747	KCNA5	c.898G>C (p.Gly300Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045045G=	CA2013431030	KCNA5	c.898G= (p.Gly300=)
12	g.5045045G>T	CA383465377	KCNA5	c.898G>T (p.Gly300Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5045046G>A	CA6399748	KCNA5	c.899G>A (p.Gly300Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045046G>C	CA383465378	KCNA5	c.899G>C (p.Gly300Ala)
12	g.5045046G=	CA2013431032	KCNA5	c.899G= (p.Gly300=)
12	g.5045046G>T	CA383465379	KCNA5	c.899G>T (p.Gly300Val)
12	g.5045048_5045050dup	CA2013431031	KCNA5	c.901_903dup (p.Ser301_Gly302insSer)	dbSNP
12	g.5045047C>A	CA478095289	KCNA5	c.900C>A (p.Gly300=)
12	g.5045047C=	CA2013431033	KCNA5	c.900C= (p.Gly300=)
12	g.5045047C>G	CA478095288	KCNA5	c.900C>G (p.Gly300=)
12	g.5045047C>T	CA478095287	KCNA5	c.900C>T (p.Gly300=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045048A>C	CA383465381	KCNA5	c.901A>C (p.Ser301Arg)
12	g.5045048A>G	CA383465382	KCNA5	c.901A>G (p.Ser301Gly)
12	g.5045048A>T	CA383465380	KCNA5	c.901A>T (p.Ser301Cys)
12	g.5045049G>A	CA383465384	KCNA5	c.902G>A (p.Ser301Asn)
12	g.5045049G>C	CA383465383	KCNA5	c.902G>C (p.Ser301Thr)
12	g.5045049G>T	CA383465385	KCNA5	c.902G>T (p.Ser301Ile)
12	g.5045050C>A	CA383465386	KCNA5	c.903C>A (p.Ser301Arg)
12	g.5045050C=	CA2013431034	KCNA5	c.903C= (p.Ser301=)
12	g.5045050C>G	CA6399749	KCNA5	c.903C>G (p.Ser301Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045050C>T	CA6399750	KCNA5	c.903C>T (p.Ser301=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045051G>A	CA6399752	KCNA5	c.904G>A (p.Gly302Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045051G>C	CA6399751	KCNA5	c.904G>C (p.Gly302Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045051G=	CA2013431036	KCNA5	c.904G= (p.Gly302=)
12	g.5045051G>T	CA383465387	KCNA5	c.904G>T (p.Gly302Trp)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5045051_5045052delinsCA	CA916083285	KCNA5	c.904_905delinsCA (p.Gly302Gln)	ClinVar dbSNP
12	g.5045051_5045052delinsGG	CA2013431035	KCNA5	c.904_905delinsGG (p.Gly302=)
12	g.5045052G>A	CA383465388	KCNA5	c.905G>A (p.Gly302Glu)	dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.5045052G>C	CA383465389	KCNA5	c.905G>C (p.Gly302Ala)
12	g.5045052G=	CA2013431037	KCNA5	c.905G= (p.Gly302=)
12	g.5045052G>T	CA383465390	KCNA5	c.905G>T (p.Gly302Val)
12	g.5045053G>A	CA6399753	KCNA5	c.906G>A (p.Gly302=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045053G>C	CA6399754	KCNA5	c.906G>C (p.Gly302=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045053G=	CA2013431038	KCNA5	c.906G= (p.Gly302=)
12	g.5045053G>T	CA478095290	KCNA5	c.906G>T (p.Gly302=)	gnomAD v4
12	g.5045054G>A	CA383465391	KCNA5	c.907G>A (p.Val303Ile)	COSMIC
12	g.5045054G>C	CA383465392	KCNA5	c.907G>C (p.Val303Leu)	gnomAD v4
12	g.5045054G>T	CA383465393	KCNA5	c.907G>T (p.Val303Phe)
12	g.5045055T>A	CA383465395	KCNA5	c.908T>A (p.Val303Asp)
12	g.5045055T>C	CA383465394	KCNA5	c.908T>C (p.Val303Ala)	gnomAD v3 gnomAD v4
12	g.5045055T>G	CA6399755	KCNA5	c.908T>G (p.Val303Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045055T=	CA2013431039	KCNA5	c.908T= (p.Val303=)
12	g.5045056C>A	CA478095292	KCNA5	c.909C>A (p.Val303=)	ClinVar gnomAD v4
12	g.5045056C>G	CA478095293	KCNA5	c.909C>G (p.Val303=)
12	g.5045056C>T	CA478095291	KCNA5	c.909C>T (p.Val303=)	gnomAD v4 COSMIC
12	g.5045057A>C	CA383465396	KCNA5	c.910A>C (p.Met304Leu)
12	g.5045057A>G	CA383465397	KCNA5	c.910A>G (p.Met304Val)
12	g.5045057A>T	CA383465398	KCNA5	c.910A>T (p.Met304Leu)
12	g.5045058T>A	CA383465399	KCNA5	c.911T>A (p.Met304Lys)	COSMIC
12	g.5045058T>C	CA6399756	KCNA5	c.911T>C (p.Met304Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045058T>G	CA383465400	KCNA5	c.911T>G (p.Met304Arg)	dbSNP gnomAD v3 gnomAD v4
12	g.5045058T=	CA2013431040	KCNA5	c.911T= (p.Met304=)
12	g.5045059G>A	CA231868177	KCNA5	c.912G>A (p.Met304Ile)	dbSNP gnomAD v2
12	g.5045059G>C	CA383465401	KCNA5	c.912G>C (p.Met304Ile)
12	g.5045059G=	CA2013431041	KCNA5	c.912G= (p.Met304=)
12	g.5045059G>T	CA383465402	KCNA5	c.912G>T (p.Met304Ile)	gnomAD v3 gnomAD v4
12	g.5045060G>A	CA151378	KCNA5	c.913G>A (p.Ala305Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045060G>C	CA383465403	KCNA5	c.913G>C (p.Ala305Pro)
12	g.5045060G=	CA2013431042	KCNA5	c.913G= (p.Ala305=)
12	g.5045060G>T	CA383465404	KCNA5	c.913G>T (p.Ala305Ser)
12	g.5045060_5045062delinsGCC	CA2013431043	KCNA5	c.913_915delinsGCC (p.Ala305=)
12	g.5045061C>A	CA383465407	KCNA5	c.914C>A (p.Ala305Asp)
12	g.5045061C>G	CA383465406	KCNA5	c.914C>G (p.Ala305Gly)
12	g.5045061C>T	CA383465405	KCNA5	c.914C>T (p.Ala305Val)
12	g.5045063_5045064del	CA603482590	KCNA5	c.916_917del (p.Pro306AlafsTer?)	dbSNP gnomAD v2 gnomAD v4
12	g.5045062C>A	CA478095297	KCNA5	c.915C>A (p.Ala305=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045062C=	CA2013431044	KCNA5	c.915C= (p.Ala305=)
12	g.5045062C>G	CA478095299	KCNA5	c.915C>G (p.Ala305=)	dbSNP
12	g.5045062C>T	CA478095298	KCNA5	c.915C>T (p.Ala305=)	gnomAD v4
12	g.5045063C>A	CA383465410	KCNA5	c.916C>A (p.Pro306Thr)
12	g.5045063C=	CA2013431045	KCNA5	c.916C= (p.Pro306=)
12	g.5045063C>G	CA383465408	KCNA5	c.916C>G (p.Pro306Ala)	dbSNP gnomAD v2 gnomAD v4
12	g.5045063C>T	CA383465409	KCNA5	c.916C>T (p.Pro306Ser)
12	g.5045064C>A	CA6399757	KCNA5	c.917C>A (p.Pro306Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045064C=	CA2013431046	KCNA5	c.917C= (p.Pro306=)
12	g.5045064C>G	CA383465411	KCNA5	c.917C>G (p.Pro306Arg)
12	g.5045064C>T	CA383465412	KCNA5	c.917C>T (p.Pro306Leu)	dbSNP gnomAD v2 gnomAD v4
12	g.5045065G>A	CA478095301	KCNA5	c.918G>A (p.Pro306=)	dbSNP gnomAD v4 COSMIC
12	g.5045065G>C	CA478095302	KCNA5	c.918G>C (p.Pro306=)
12	g.5045065G=	CA2013431047	KCNA5	c.918G= (p.Pro306=)
12	g.5045065G>T	CA478095303	KCNA5	c.918G>T (p.Pro306=)	dbSNP gnomAD v4
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

Number of alleles fetched