Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5044151_5044189del	CA2617209874	KCNA5	c.4_42del (p.Glu2_Met14del)	gnomAD v4
12	g.5044146C>A	CA2575052155	KCNA5	c.-2C>A (n.-2C>A)	gnomAD v4
12	g.5044146C>T	CA2617209876	KCNA5	c.-2C>T (n.-2C>T)	gnomAD v4
12	g.5044147C>A	CA2617209877	KCNA5	c.-1C>A (n.-1C>A)	gnomAD v4
12	g.5044148A=	CA2013430498	KCNA5	c.1A= (p.Met1=)
12	g.5044148A>C	CA383461692	KCNA5	c.1A>C (p.Met1Leu)
12	g.5044148A>G	CA231866707	KCNA5	c.1A>G (p.Met1Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044148A>T	CA383461693	KCNA5	c.1A>T (p.Met1Leu)
12	g.5044149T>A	CA383461696	KCNA5	c.2T>A (p.Met1Lys)	gnomAD v4
12	g.5044149T>C	CA383461695	KCNA5	c.2T>C (p.Met1Thr)	ClinVar gnomAD v4
12	g.5044149T>G	CA383461694	KCNA5	c.2T>G (p.Met1Arg)	gnomAD v4
12	g.5044150G>A	CA383461697	KCNA5	c.3G>A (p.Met1Ile)	gnomAD v4
12	g.5044150G>C	CA383461699	KCNA5	c.3G>C (p.Met1Ile)
12	g.5044150G>T	CA383461698	KCNA5	c.3G>T (p.Met1Ile)	gnomAD v4
12	g.5044151G>A	CA383461700	KCNA5	c.4G>A (p.Glu2Lys)
12	g.5044151G>C	CA383461701	KCNA5	c.4G>C (p.Glu2Gln)	gnomAD v4
12	g.5044151G>T	CA383461702	KCNA5	c.4G>T (p.Glu2Ter)	gnomAD v4
12	g.5044152A>C	CA383461703	KCNA5	c.5A>C (p.Glu2Ala)
12	g.5044152A>G	CA383461704	KCNA5	c.5A>G (p.Glu2Gly)
12	g.5044152A>T	CA383461705	KCNA5	c.5A>T (p.Glu2Val)
12	g.5044153G>A	CA478094427	KCNA5	c.6G>A (p.Glu2=)
12	g.5044153G>C	CA383461706	KCNA5	c.6G>C (p.Glu2Asp)
12	g.5044153G>T	CA383461707	KCNA5	c.6G>T (p.Glu2Asp)	gnomAD v4
12	g.5044154A=	CA2013430499	KCNA5	c.7A= (p.Ile3=)
12	g.5044154A>C	CA383461708	KCNA5	c.7A>C (p.Ile3Leu)
12	g.5044154A>G	CA231866720	KCNA5	c.7A>G (p.Ile3Val)	dbSNP gnomAD v3 gnomAD v4
12	g.5044154A>T	CA383461709	KCNA5	c.7A>T (p.Ile3Phe)	gnomAD v4
12	g.5044155T>A	CA383461712	KCNA5	c.8T>A (p.Ile3Asn)	gnomAD v4
12	g.5044155T>C	CA383461711	KCNA5	c.8T>C (p.Ile3Thr)
12	g.5044155T>G	CA383461710	KCNA5	c.8T>G (p.Ile3Ser)
12	g.5044156C>A	CA478094433	KCNA5	c.9C>A (p.Ile3=)	gnomAD v4
12	g.5044156C=	CA2013430500	KCNA5	c.9C= (p.Ile3=)
12	g.5044156C>G	CA383461713	KCNA5	c.9C>G (p.Ile3Met)
12	g.5044156C>T	CA478094431	KCNA5	c.9C>T (p.Ile3=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044157G>A	CA383461714	KCNA5	c.10G>A (p.Ala4Thr)	gnomAD v4
12	g.5044157G>C	CA383461715	KCNA5	c.10G>C (p.Ala4Pro)
12	g.5044157G=	CA2013430501	KCNA5	c.10G= (p.Ala4=)
12	g.5044157G>T	CA383461716	KCNA5	c.10G>T (p.Ala4Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044158C>A	CA383461717	KCNA5	c.11C>A (p.Ala4Asp)	gnomAD v4
12	g.5044158C=	CA2013430502	KCNA5	c.11C= (p.Ala4=)
12	g.5044158C>G	CA383461718	KCNA5	c.11C>G (p.Ala4Gly)
12	g.5044158C>T	CA383461719	KCNA5	c.11C>T (p.Ala4Val)	dbSNP gnomAD v2 gnomAD v4
12	g.5044159C>A	CA478094434	KCNA5	c.12C>A (p.Ala4=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044159C=	CA2013430503	KCNA5	c.12C= (p.Ala4=)
12	g.5044159C>G	CA478094435	KCNA5	c.12C>G (p.Ala4=)
12	g.5044159C>T	CA478094436	KCNA5	c.12C>T (p.Ala4=)	gnomAD v4
12	g.5044160C>A	CA383461720	KCNA5	c.13C>A (p.Leu5Met)	gnomAD v4
12	g.5044160C>G	CA383461721	KCNA5	c.13C>G (p.Leu5Val)
12	g.5044160C>T	CA478094437	KCNA5	c.13C>T (p.Leu5=)	gnomAD v4
12	g.5044161T>A	CA383461722	KCNA5	c.14T>A (p.Leu5Gln)
12	g.5044161T>C	CA383461723	KCNA5	c.14T>C (p.Leu5Pro)	ClinVar dbSNP gnomAD v4
12	g.5044161T>G	CA383461724	KCNA5	c.14T>G (p.Leu5Arg)	gnomAD v4
12	g.5044161T=	CA2013430504	KCNA5	c.14T= (p.Leu5=)
12	g.5044162G>A	CA478094444	KCNA5	c.15G>A (p.Leu5=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044162G>C	CA478094445	KCNA5	c.15G>C (p.Leu5=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044162G=	CA2013430505	KCNA5	c.15G= (p.Leu5=)
12	g.5044162G>T	CA478094443	KCNA5	c.15G>T (p.Leu5=)	gnomAD v4
12	g.5044163G>A	CA383461727	KCNA5	c.16G>A (p.Val6Met)	gnomAD v4
12	g.5044163G>C	CA383461726	KCNA5	c.16G>C (p.Val6Leu)
12	g.5044163G>T	CA383461725	KCNA5	c.16G>T (p.Val6Leu)	gnomAD v4
12	g.5044164T>A	CA383461728	KCNA5	c.17T>A (p.Val6Glu)
12	g.5044164T>C	CA383461729	KCNA5	c.17T>C (p.Val6Ala)	gnomAD v4
12	g.5044164T>G	CA383461730	KCNA5	c.17T>G (p.Val6Gly)
12	g.5044165G>A	CA231866722	KCNA5	c.18G>A (p.Val6=)	dbSNP gnomAD v4
12	g.5044165G>C	CA478094449	KCNA5	c.18G>C (p.Val6=)
12	g.5044165G=	CA2013430506	KCNA5	c.18G= (p.Val6=)
12	g.5044165G>T	CA478094450	KCNA5	c.18G>T (p.Val6=)	gnomAD v4
12	g.5044166C>A	CA383461731	KCNA5	c.19C>A (p.Pro7Thr)	gnomAD v4
12	g.5044166C=	CA2013430507	KCNA5	c.19C= (p.Pro7=)
12	g.5044166C>G	CA383461732	KCNA5	c.19C>G (p.Pro7Ala)	gnomAD v4
12	g.5044166C>T	CA383461733	KCNA5	c.19C>T (p.Pro7Ser)	dbSNP gnomAD v2 gnomAD v4
12	g.5044169del	CA2617209878	KCNA5	c.22del (p.Leu8TrpfsTer7)	gnomAD v4
12	g.5044167C>A	CA383461736	KCNA5	c.20C>A (p.Pro7His)	gnomAD v4
12	g.5044167C=	CA2013430508	KCNA5	c.20C= (p.Pro7=)
12	g.5044167C>G	CA383461734	KCNA5	c.20C>G (p.Pro7Arg)	ClinVar dbSNP gnomAD v4
12	g.5044167C>T	CA383461735	KCNA5	c.20C>T (p.Pro7Leu)	dbSNP gnomAD v2 gnomAD v4
12	g.5044168C>A	CA478094453	KCNA5	c.21C>A (p.Pro7=)	gnomAD v4
12	g.5044168C>G	CA478094455	KCNA5	c.21C>G (p.Pro7=)
12	g.5044168C>T	CA478094457	KCNA5	c.21C>T (p.Pro7=)	gnomAD v4
12	g.5044169C>A	CA383461737	KCNA5	c.22C>A (p.Leu8Met)	gnomAD v4
12	g.5044169C>G	CA383461738	KCNA5	c.22C>G (p.Leu8Val)
12	g.5044169C>T	CA478094459	KCNA5	c.22C>T (p.Leu8=)
12	g.5044170del	CA2617209879	KCNA5	c.23del (p.Leu8ArgfsTer7)	gnomAD v4
12	g.5044170T>A	CA383461739	KCNA5	c.23T>A (p.Leu8Gln)	gnomAD v4
12	g.5044170T>C	CA383461740	KCNA5	c.23T>C (p.Leu8Pro)	dbSNP gnomAD v4
12	g.5044170T>G	CA383461741	KCNA5	c.23T>G (p.Leu8Arg)
12	g.5044170T=	CA2013430509	KCNA5	c.23T= (p.Leu8=)
12	g.5044171G>A	CA478094463	KCNA5	c.24G>A (p.Leu8=)	gnomAD v4
12	g.5044171G>C	CA478094464	KCNA5	c.24G>C (p.Leu8=)
12	g.5044171G>T	CA478094466	KCNA5	c.24G>T (p.Leu8=)	gnomAD v4
12	g.5044172del	CA2617209880	KCNA5	c.25del (p.Glu9ArgfsTer6)	gnomAD v4
12	g.5044172G>A	CA383461742	KCNA5	c.25G>A (p.Glu9Lys)
12	g.5044172G>C	CA383461744	KCNA5	c.25G>C (p.Glu9Gln)
12	g.5044172G>T	CA383461743	KCNA5	c.25G>T (p.Glu9Ter)	gnomAD v4
12	g.5044173A>C	CA383461745	KCNA5	c.26A>C (p.Glu9Ala)
12	g.5044173A>G	CA383461746	KCNA5	c.26A>G (p.Glu9Gly)	gnomAD v4
12	g.5044173A>T	CA383461747	KCNA5	c.26A>T (p.Glu9Val)	gnomAD v4
12	g.5044174G>A	CA478094469	KCNA5	c.27G>A (p.Glu9=)
12	g.5044174G>C	CA383461748	KCNA5	c.27G>C (p.Glu9Asp)
12	g.5044174G>T	CA383461749	KCNA5	c.27G>T (p.Glu9Asp)	gnomAD v4
12	g.5044175A=	CA2013430510	KCNA5	c.28A= (p.Asn10=)
12	g.5044175A>C	CA383461750	KCNA5	c.28A>C (p.Asn10His)
12	g.5044175A>G	CA231866726	KCNA5	c.28A>G (p.Asn10Asp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044175A>T	CA383461751	KCNA5	c.28A>T (p.Asn10Tyr)
12	g.5044176A>C	CA383461752	KCNA5	c.29A>C (p.Asn10Thr)
12	g.5044176A>G	CA383461753	KCNA5	c.29A>G (p.Asn10Ser)	gnomAD v4
12	g.5044176A>T	CA383461754	KCNA5	c.29A>T (p.Asn10Ile)
12	g.5044177C>A	CA383461755	KCNA5	c.30C>A (p.Asn10Lys)
12	g.5044177C=	CA2013430511	KCNA5	c.30C= (p.Asn10=)
12	g.5044177C>G	CA383461756	KCNA5	c.30C>G (p.Asn10Lys)	dbSNP gnomAD v2 gnomAD v4
12	g.5044177C>T	CA478094475	KCNA5	c.30C>T (p.Asn10=)	gnomAD v4
12	g.5044180_5044182dup	CA2580615117	KCNA5	c.33_35dup (p.Gly12_Ala13insGly)	ClinVar dbSNP gnomAD v4
12	g.5044178G>A	CA383461757	KCNA5	c.31G>A (p.Gly11Ser)	gnomAD v4
12	g.5044178G>C	CA383461759	KCNA5	c.31G>C (p.Gly11Arg)	dbSNP gnomAD v2
12	g.5044178G=	CA2013430512	KCNA5	c.31G= (p.Gly11=)
12	g.5044178G>T	CA383461758	KCNA5	c.31G>T (p.Gly11Cys)	gnomAD v4
12	g.5044178_5044180delinsGGC	CA2013430513	KCNA5	c.31_33delinsGGC (p.Gly11=)
12	g.5044179G>A	CA383461760	KCNA5	c.32G>A (p.Gly11Asp)	gnomAD v4
12	g.5044179G>C	CA383461762	KCNA5	c.32G>C (p.Gly11Ala)
12	g.5044179G>T	CA383461761	KCNA5	c.32G>T (p.Gly11Val)	gnomAD v4
12	g.5044180_5044181del	CA603482585	KCNA5	c.33_34del (p.Gly12CysfsTer9)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044180C>A	CA478094480	KCNA5	c.33C>A (p.Gly11=)	gnomAD v4
12	g.5044180C>G	CA478094481	KCNA5	c.33C>G (p.Gly11=)	gnomAD v4
12	g.5044180C>T	CA478094482	KCNA5	c.33C>T (p.Gly11=)	gnomAD v4
12	g.5044181G>A	CA383461763	KCNA5	c.34G>A (p.Gly12Ser)	gnomAD v4
12	g.5044181G>C	CA383461764	KCNA5	c.34G>C (p.Gly12Arg)
12	g.5044181G>T	CA383461765	KCNA5	c.34G>T (p.Gly12Cys)	gnomAD v4
12	g.5044182G>A	CA6399530	KCNA5	c.35G>A (p.Gly12Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044182G>C	CA383461766	KCNA5	c.35G>C (p.Gly12Ala)
12	g.5044182G=	CA2013430514	KCNA5	c.35G= (p.Gly12=)
12	g.5044182G>T	CA383461767	KCNA5	c.35G>T (p.Gly12Val)	dbSNP gnomAD v4
12	g.5044183T>A	CA478094486	KCNA5	c.36T>A (p.Gly12=)
12	g.5044183T>C	CA10633066	KCNA5	c.36T>C (p.Gly12=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044183T>G	CA478094487	KCNA5	c.36T>G (p.Gly12=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044183T=	CA2013430515	KCNA5	c.36T= (p.Gly12=)
12	g.5044184G>A	CA383461768	KCNA5	c.37G>A (p.Ala13Thr)	dbSNP gnomAD v4
12	g.5044184G>C	CA383461769	KCNA5	c.37G>C (p.Ala13Pro)
12	g.5044184G>T	CA383461770	KCNA5	c.37G>T (p.Ala13Ser)	gnomAD v4
12	g.5044185C>A	CA383461771	KCNA5	c.38C>A (p.Ala13Asp)	gnomAD v4
12	g.5044185C>G	CA383461772	KCNA5	c.38C>G (p.Ala13Gly)
12	g.5044185C>T	CA383461773	KCNA5	c.38C>T (p.Ala13Val)	gnomAD v4
12	g.5044186C>A	CA478094490	KCNA5	c.39C>A (p.Ala13=)	gnomAD v4
12	g.5044186C=	CA2013430516	KCNA5	c.39C= (p.Ala13=)
12	g.5044186C>G	CA478094492	KCNA5	c.39C>G (p.Ala13=)
12	g.5044186C>T	CA478094493	KCNA5	c.39C>T (p.Ala13=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044187A=	CA2013430517	KCNA5	c.40A= (p.Met14=)
12	g.5044187A>C	CA383461774	KCNA5	c.40A>C (p.Met14Leu)
12	g.5044187A>G	CA383461776	KCNA5	c.40A>G (p.Met14Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044187A>T	CA383461775	KCNA5	c.40A>T (p.Met14Leu)
12	g.5044187dup	CA2617209881	KCNA5	c.40dup (p.Met14AsnfsTer8)	gnomAD v4
12	g.5044188T>A	CA383461777	KCNA5	c.41T>A (p.Met14Lys)	gnomAD v4
12	g.5044188T>C	CA383461778	KCNA5	c.41T>C (p.Met14Thr)
12	g.5044188T>G	CA231866737	KCNA5	c.41T>G (p.Met14Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044188T=	CA2013430518	KCNA5	c.41T= (p.Met14=)
12	g.5044188_5044189delinsTG	CA2013430519	KCNA5	c.41_42delinsTG (p.Met14=)
12	g.5044189del	CA944255789	KCNA5	c.42del (p.Met14IlefsTer?)	dbSNP gnomAD v3 gnomAD v4
12	g.5044189G>A	CA383461779	KCNA5	c.42G>A (p.Met14Ile)	gnomAD v4
12	g.5044189G>C	CA383461780	KCNA5	c.42G>C (p.Met14Ile)
12	g.5044189G>T	CA383461781	KCNA5	c.42G>T (p.Met14Ile)	gnomAD v4
12	g.5044190A=	CA2013430520	KCNA5	c.43A= (p.Thr15=)
12	g.5044190A>C	CA383461782	KCNA5	c.43A>C (p.Thr15Pro)
12	g.5044190A>G	CA231866740	KCNA5	c.43A>G (p.Thr15Ala)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044190A>T	CA383461783	KCNA5	c.43A>T (p.Thr15Ser)
12	g.5044191C>A	CA383461786	KCNA5	c.44C>A (p.Thr15Asn)	gnomAD v4
12	g.5044191C=	CA2013430521	KCNA5	c.44C= (p.Thr15=)
12	g.5044191C>G	CA383461785	KCNA5	c.44C>G (p.Thr15Ser)
12	g.5044191C>T	CA383461784	KCNA5	c.44C>T (p.Thr15Ile)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.5044192C>A	CA478094498	KCNA5	c.45C>A (p.Thr15=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044192C=	CA2013430522	KCNA5	c.45C= (p.Thr15=)
12	g.5044192C>G	CA478094500	KCNA5	c.45C>G (p.Thr15=)
12	g.5044192C>T	CA478094501	KCNA5	c.45C>T (p.Thr15=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.5044193G>A	CA383461787	KCNA5	c.46G>A (p.Val16Ile)	gnomAD v4
12	g.5044193G>C	CA383461788	KCNA5	c.46G>C (p.Val16Leu)
12	g.5044193G=	CA2013430523	KCNA5	c.46G= (p.Val16=)
12	g.5044193G>T	CA383461789	KCNA5	c.46G>T (p.Val16Phe)	dbSNP gnomAD v3 gnomAD v4
12	g.5044194T>A	CA383461790	KCNA5	c.47T>A (p.Val16Asp)
12	g.5044194T>C	CA383461791	KCNA5	c.47T>C (p.Val16Ala)	gnomAD v4
12	g.5044194T>G	CA383461792	KCNA5	c.47T>G (p.Val16Gly)
12	g.5044195C>A	CA478094502	KCNA5	c.48C>A (p.Val16=)	gnomAD v4
12	g.5044195C>G	CA478094504	KCNA5	c.48C>G (p.Val16=)
12	g.5044195C>T	CA478094505	KCNA5	c.48C>T (p.Val16=)	gnomAD v4
12	g.5044196A>C	CA478094506	KCNA5	c.49A>C (p.Arg17=)
12	g.5044196A>G	CA383461793	KCNA5	c.49A>G (p.Arg17Gly)	gnomAD v4
12	g.5044196A>T	CA383461794	KCNA5	c.49A>T (p.Arg17Ter)	gnomAD v4
12	g.5044197G>A	CA6399531	KCNA5	c.50G>A (p.Arg17Lys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044197G>C	CA383461795	KCNA5	c.50G>C (p.Arg17Thr)
12	g.5044197G=	CA2013430524	KCNA5	c.50G= (p.Arg17=)
12	g.5044197G>T	CA383461796	KCNA5	c.50G>T (p.Arg17Ile)	gnomAD v4
12	g.5044198A>C	CA383461797	KCNA5	c.51A>C (p.Arg17Ser)
12	g.5044198A>G	CA478094510	KCNA5	c.51A>G (p.Arg17=)
12	g.5044198A>T	CA383461798	KCNA5	c.51A>T (p.Arg17Ser)
12	g.5044199G>A	CA383461801	KCNA5	c.52G>A (p.Gly18Arg)	dbSNP gnomAD v4
12	g.5044199G>C	CA383461799	KCNA5	c.52G>C (p.Gly18Arg)
12	g.5044199G=	CA2013430525	KCNA5	c.52G= (p.Gly18=)
12	g.5044199G>T	CA383461800	KCNA5	c.52G>T (p.Gly18Ter)	gnomAD v4
12	g.5044200G>A	CA231866755	KCNA5	c.53G>A (p.Gly18Glu)	dbSNP gnomAD v3 gnomAD v4
12	g.5044200G>C	CA383461802	KCNA5	c.53G>C (p.Gly18Ala)
12	g.5044200G=	CA2013430526	KCNA5	c.53G= (p.Gly18=)
12	g.5044200G>T	CA383461803	KCNA5	c.53G>T (p.Gly18Val)	gnomAD v4
12	g.5044201A=	CA2013430527	KCNA5	c.54A= (p.Gly18=)
12	g.5044201A>C	CA478094511	KCNA5	c.54A>C (p.Gly18=)
12	g.5044201A>G	CA478094512	KCNA5	c.54A>G (p.Gly18=)	dbSNP gnomAD v4
12	g.5044201A>T	CA478094513	KCNA5	c.54A>T (p.Gly18=)
12	g.5044202G>A	CA383461804	KCNA5	c.55G>A (p.Gly19Ser)	dbSNP gnomAD v2 gnomAD v4
12	g.5044202G>C	CA383461805	KCNA5	c.55G>C (p.Gly19Arg)
12	g.5044202G=	CA2013430528	KCNA5	c.55G= (p.Gly19=)
12	g.5044202G>T	CA383461806	KCNA5	c.55G>T (p.Gly19Cys)	gnomAD v4
12	g.5044203G>A	CA383461807	KCNA5	c.56G>A (p.Gly19Asp)	ClinVar dbSNP gnomAD v4
12	g.5044203G>C	CA383461808	KCNA5	c.56G>C (p.Gly19Ala)	gnomAD v4
12	g.5044203G=	CA2013430529	KCNA5	c.56G= (p.Gly19=)
12	g.5044203G>T	CA383461809	KCNA5	c.56G>T (p.Gly19Val)	gnomAD v4
12	g.5044204C>A	CA478094515	KCNA5	c.57C>A (p.Gly19=)	gnomAD v4
12	g.5044204C=	CA2013430530	KCNA5	c.57C= (p.Gly19=)
12	g.5044204C>G	CA478094516	KCNA5	c.57C>G (p.Gly19=)	gnomAD v4
12	g.5044204C>T	CA478094517	KCNA5	c.57C>T (p.Gly19=)	dbSNP gnomAD v4
12	g.5044205G>A	CA383461810	KCNA5	c.58G>A (p.Asp20Asn)	gnomAD v4 COSMIC
12	g.5044205G>C	CA383461811	KCNA5	c.58G>C (p.Asp20His)
12	g.5044205G>T	CA383461812	KCNA5	c.58G>T (p.Asp20Tyr)	gnomAD v4
12	g.5044206A=	CA2013430531	KCNA5	c.59A= (p.Asp20=)
12	g.5044206A>C	CA383461815	KCNA5	c.59A>C (p.Asp20Ala)	dbSNP
12	g.5044206A>G	CA383461814	KCNA5	c.59A>G (p.Asp20Gly)	gnomAD v4
12	g.5044206A>T	CA383461813	KCNA5	c.59A>T (p.Asp20Val)
12	g.5044207T>A	CA383461817	KCNA5	c.60T>A (p.Asp20Glu)	gnomAD v4
12	g.5044207T>C	CA478094518	KCNA5	c.60T>C (p.Asp20=)
12	g.5044207T>G	CA383461816	KCNA5	c.60T>G (p.Asp20Glu)
12	g.5044208G>A	CA383461820	KCNA5	c.61G>A (p.Glu21Lys)	ClinVar dbSNP gnomAD v4
12	g.5044208G>C	CA383461818	KCNA5	c.61G>C (p.Glu21Gln)
12	g.5044208G=	CA2013430532	KCNA5	c.61G= (p.Glu21=)
12	g.5044208G>T	CA383461819	KCNA5	c.61G>T (p.Glu21Ter)	gnomAD v4
12	g.5044209A=	CA2013430533	KCNA5	c.62A= (p.Glu21=)
12	g.5044209A>C	CA231866757	KCNA5	c.62A>C (p.Glu21Ala)	dbSNP
12	g.5044209A>G	CA383461821	KCNA5	c.62A>G (p.Glu21Gly)	gnomAD v4
12	g.5044209A>T	CA383461822	KCNA5	c.62A>T (p.Glu21Val)
12	g.5044210G>A	CA478094787	KCNA5	c.63G>A (p.Glu21=)	gnomAD v4
12	g.5044210G>C	CA383461823	KCNA5	c.63G>C (p.Glu21Asp)
12	g.5044210G>T	CA383461824	KCNA5	c.63G>T (p.Glu21Asp)	gnomAD v4
12	g.5044211G>A	CA383461825	KCNA5	c.64G>A (p.Ala22Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.5044211G>C	CA383461826	KCNA5	c.64G>C (p.Ala22Pro)	gnomAD v4
12	g.5044211G=	CA2013430534	KCNA5	c.64G= (p.Ala22=)
12	g.5044211G>T	CA383461827	KCNA5	c.64G>T (p.Ala22Ser)	gnomAD v4
12	g.5044212C>A	CA383461828	KCNA5	c.65C>A (p.Ala22Asp)	gnomAD v4
12	g.5044212C=	CA2013430535	KCNA5	c.65C= (p.Ala22=)
12	g.5044212C>G	CA383461829	KCNA5	c.65C>G (p.Ala22Gly)
12	g.5044212C>T	CA383461830	KCNA5	c.65C>T (p.Ala22Val)	dbSNP gnomAD v2 gnomAD v4
12	g.5044213C>A	CA478094791	KCNA5	c.66C>A (p.Ala22=)
12	g.5044213C>G	CA478094792	KCNA5	c.66C>G (p.Ala22=)
12	g.5044213C>T	CA478094793	KCNA5	c.66C>T (p.Ala22=)	gnomAD v4
12	g.5044214C>A	CA478094795	KCNA5	c.67C>A (p.Arg23=)	gnomAD v4
12	g.5044214C=	CA2013430536	KCNA5	c.67C= (p.Arg23=)
12	g.5044214C>G	CA6399533	KCNA5	c.67C>G (p.Arg23Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044214C>T	CA6399532	KCNA5	c.67C>T (p.Arg23Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044215G>A	CA383461831	KCNA5	c.68G>A (p.Arg23Gln)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5044215G>C	CA383461832	KCNA5	c.68G>C (p.Arg23Pro)	dbSNP gnomAD v4
12	g.5044215G=	CA2013430537	KCNA5	c.68G= (p.Arg23=)
12	g.5044215G>T	CA383461833	KCNA5	c.68G>T (p.Arg23Leu)	gnomAD v4
12	g.5044216G>A	CA478094797	KCNA5	c.69G>A (p.Arg23=)	ClinVar gnomAD v4 COSMIC
12	g.5044216G>C	CA478094798	KCNA5	c.69G>C (p.Arg23=)
12	g.5044216G>T	CA478094799	KCNA5	c.69G>T (p.Arg23=)	gnomAD v4
12	g.5044217G>A	CA383461834	KCNA5	c.70G>A (p.Ala24Thr)	gnomAD v4
12	g.5044217G>C	CA383461835	KCNA5	c.70G>C (p.Ala24Pro)
12	g.5044217G=	CA2013430538	KCNA5	c.70G= (p.Ala24=)
12	g.5044217G>T	CA383461836	KCNA5	c.70G>T (p.Ala24Ser)	ClinVar dbSNP gnomAD v4
12	g.5044218C>A	CA383461837	KCNA5	c.71C>A (p.Ala24Glu)	gnomAD v4
12	g.5044218C>G	CA383461838	KCNA5	c.71C>G (p.Ala24Gly)
12	g.5044218C>T	CA383461839	KCNA5	c.71C>T (p.Ala24Val)	gnomAD v4
12	g.5044219A=	CA2013430539	KCNA5	c.72A= (p.Ala24=)
12	g.5044219A>C	CA478094801	KCNA5	c.72A>C (p.Ala24=)
12	g.5044219A>G	CA478094802	KCNA5	c.72A>G (p.Ala24=)	dbSNP gnomAD v3 gnomAD v4
12	g.5044219A>T	CA478094803	KCNA5	c.72A>T (p.Ala24=)
12	g.5044220G>A	CA383461840	KCNA5	c.73G>A (p.Gly25Ser)
12	g.5044220G>C	CA383461841	KCNA5	c.73G>C (p.Gly25Arg)
12	g.5044220G>T	CA383461842	KCNA5	c.73G>T (p.Gly25Cys)	gnomAD v4
12	g.5044221G>A	CA383461845	KCNA5	c.74G>A (p.Gly25Asp)	gnomAD v4
12	g.5044221G>C	CA383461844	KCNA5	c.74G>C (p.Gly25Ala)	gnomAD v4
12	g.5044221G>T	CA383461843	KCNA5	c.74G>T (p.Gly25Val)	gnomAD v4
12	g.5044222C>A	CA478094807	KCNA5	c.75C>A (p.Gly25=)	gnomAD v4
12	g.5044222C>G	CA478094808	KCNA5	c.75C>G (p.Gly25=)
12	g.5044222C>T	CA478094809	KCNA5	c.75C>T (p.Gly25=)	gnomAD v4
12	g.5044223T>A	CA383461846	KCNA5	c.76T>A (p.Cys26Ser)	dbSNP gnomAD v4
12	g.5044223T>C	CA383461847	KCNA5	c.76T>C (p.Cys26Arg)	dbSNP gnomAD v4
12	g.5044223T>G	CA383461848	KCNA5	c.76T>G (p.Cys26Gly)	gnomAD v4
12	g.5044223T=	CA2013430540	KCNA5	c.76T= (p.Cys26=)
12	g.5044224G>A	CA383461849	KCNA5	c.77G>A (p.Cys26Tyr)	gnomAD v4
12	g.5044224G>C	CA383461850	KCNA5	c.77G>C (p.Cys26Ser)
12	g.5044224G>T	CA383461851	KCNA5	c.77G>T (p.Cys26Phe)	gnomAD v4
12	g.5044225C>A	CA383461852	KCNA5	c.78C>A (p.Cys26Ter)	gnomAD v4
12	g.5044225C=	CA2013430541	KCNA5	c.78C= (p.Cys26=)
12	g.5044225C>G	CA383461853	KCNA5	c.78C>G (p.Cys26Trp)
12	g.5044225C>T	CA6399534	KCNA5	c.78C>T (p.Cys26=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044226G>A	CA6399535	KCNA5	c.79G>A (p.Gly27Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044226G>C	CA383461854	KCNA5	c.79G>C (p.Gly27Arg)
12	g.5044226G=	CA2013430542	KCNA5	c.79G= (p.Gly27=)
12	g.5044226G>T	CA383461855	KCNA5	c.79G>T (p.Gly27Cys)	gnomAD v4
12	g.5044227G>A	CA6399536	KCNA5	c.80G>A (p.Gly27Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044227G>C	CA383461857	KCNA5	c.80G>C (p.Gly27Ala)
12	g.5044227G=	CA2013430543	KCNA5	c.80G= (p.Gly27=)
12	g.5044227G>T	CA383461856	KCNA5	c.80G>T (p.Gly27Val)	dbSNP gnomAD v4
12	g.5044228C>A	CA478094818	KCNA5	c.81C>A (p.Gly27=)	gnomAD v4
12	g.5044228C=	CA2013430544	KCNA5	c.81C= (p.Gly27=)
12	g.5044228C>G	CA478094819	KCNA5	c.81C>G (p.Gly27=)	gnomAD v4
12	g.5044228C>T	CA478094821	KCNA5	c.81C>T (p.Gly27=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044229C>A	CA383461858	KCNA5	c.82C>A (p.Gln28Lys)	gnomAD v4
12	g.5044229C>G	CA383461859	KCNA5	c.82C>G (p.Gln28Glu)
12	g.5044229C>T	CA383461860	KCNA5	c.82C>T (p.Gln28Ter)	gnomAD v4
12	g.5044230A>C	CA383461861	KCNA5	c.83A>C (p.Gln28Pro)
12	g.5044230A>G	CA383461862	KCNA5	c.83A>G (p.Gln28Arg)	gnomAD v4
12	g.5044230A>T	CA383461863	KCNA5	c.83A>T (p.Gln28Leu)	COSMIC
12	g.5044231G>A	CA478094823	KCNA5	c.84G>A (p.Gln28=)	gnomAD v4
12	g.5044231G>C	CA383461864	KCNA5	c.84G>C (p.Gln28His)
12	g.5044231G>T	CA383461865	KCNA5	c.84G>T (p.Gln28His)	gnomAD v4
12	g.5044232G>A	CA383461866	KCNA5	c.85G>A (p.Ala29Thr)	gnomAD v4
12	g.5044232G>C	CA383461867	KCNA5	c.85G>C (p.Ala29Pro)
12	g.5044232G>T	CA383461868	KCNA5	c.85G>T (p.Ala29Ser)	gnomAD v4
12	g.5044233C>A	CA6399537	KCNA5	c.86C>A (p.Ala29Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044233C=	CA2013430545	KCNA5	c.86C= (p.Ala29=)
12	g.5044233C>G	CA383461869	KCNA5	c.86C>G (p.Ala29Gly)
12	g.5044233C>T	CA383461870	KCNA5	c.86C>T (p.Ala29Val)	gnomAD v4
12	g.5044234C>A	CA478094825	KCNA5	c.87C>A (p.Ala29=)	gnomAD v4
12	g.5044234C=	CA2013430546	KCNA5	c.87C= (p.Ala29=)
12	g.5044234C>G	CA478094826	KCNA5	c.87C>G (p.Ala29=)
12	g.5044234C>T	CA478094827	KCNA5	c.87C>T (p.Ala29=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044235A>C	CA383461872	KCNA5	c.88A>C (p.Thr30Pro)	gnomAD v4
12	g.5044235A>G	CA383461873	KCNA5	c.88A>G (p.Thr30Ala)	gnomAD v4
12	g.5044235A>T	CA383461871	KCNA5	c.88A>T (p.Thr30Ser)	gnomAD v4
12	g.5044236C>A	CA383461874	KCNA5	c.89C>A (p.Thr30Lys)	gnomAD v4
12	g.5044236C>G	CA383461876	KCNA5	c.89C>G (p.Thr30Arg)	gnomAD v4
12	g.5044236C>T	CA383461875	KCNA5	c.89C>T (p.Thr30Ile)	gnomAD v4
12	g.5044237A=	CA2013430547	KCNA5	c.90A= (p.Thr30=)
12	g.5044237A>C	CA478094829	KCNA5	c.90A>C (p.Thr30=)
12	g.5044237A>G	CA478094831	KCNA5	c.90A>G (p.Thr30=)	gnomAD v4
12	g.5044237A>T	CA478094830	KCNA5	c.90A>T (p.Thr30=)	gnomAD v4
12	g.5044238G>A	CA383461877	KCNA5	c.91G>A (p.Gly31Arg)	gnomAD v4 COSMIC
12	g.5044238G>C	CA383461878	KCNA5	c.91G>C (p.Gly31Arg)	ClinVar dbSNP
12	g.5044238G=	CA2013430548	KCNA5	c.91G= (p.Gly31=)
12	g.5044238G>T	CA383461879	KCNA5	c.91G>T (p.Gly31Trp)	gnomAD v4
12	g.5044242dup	CA915947829	KCNA5	c.95dup (p.Glu33ArgfsTer?)	ClinVar dbSNP
12	g.5044242del	CA2575052156	KCNA5	c.95del (p.Gly32GlufsTer?)	gnomAD v4
12	g.5044239G>A	CA383461880	KCNA5	c.92G>A (p.Gly31Glu)	dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.5044239G>C	CA6399539	KCNA5	c.92G>C (p.Gly31Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044239G=	CA2013430549	KCNA5	c.92G= (p.Gly31=)
12	g.5044239G>T	CA6399538	KCNA5	c.92G>T (p.Gly31Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044240G>A	CA478094833	KCNA5	c.93G>A (p.Gly31=)
12	g.5044240G>C	CA478094834	KCNA5	c.93G>C (p.Gly31=)	gnomAD v4
12	g.5044240G>T	CA478094836	KCNA5	c.93G>T (p.Gly31=)	gnomAD v4
12	g.5044241G>A	CA383461883	KCNA5	c.94G>A (p.Gly32Arg)	dbSNP gnomAD v2 gnomAD v4
12	g.5044241G>C	CA383461882	KCNA5	c.94G>C (p.Gly32Arg)
12	g.5044241G=	CA2013430550	KCNA5	c.94G= (p.Gly32=)
12	g.5044241G>T	CA383461881	KCNA5	c.94G>T (p.Gly32Ter)	gnomAD v4
12	g.5044242G>A	CA383461884	KCNA5	c.95G>A (p.Gly32Glu)	ClinVar dbSNP gnomAD v4
12	g.5044242G>C	CA383461885	KCNA5	c.95G>C (p.Gly32Ala)
12	g.5044242G=	CA2013430551	KCNA5	c.95G= (p.Gly32=)
12	g.5044242G>T	CA383461886	KCNA5	c.95G>T (p.Gly32Val)	dbSNP gnomAD v4
12	g.5044243A=	CA2013430552	KCNA5	c.96A= (p.Gly32=)
12	g.5044243A>C	CA478094838	KCNA5	c.96A>C (p.Gly32=)
12	g.5044243A>G	CA478094840	KCNA5	c.96A>G (p.Gly32=)	dbSNP gnomAD v4
12	g.5044243A>T	CA478094839	KCNA5	c.96A>T (p.Gly32=)
12	g.5044244G>A	CA383461887	KCNA5	c.97G>A (p.Glu33Lys)	gnomAD v4
12	g.5044244G>C	CA231866781	KCNA5	c.97G>C (p.Glu33Gln)	ClinVar dbSNP gnomAD v4
12	g.5044244G=	CA2013430553	KCNA5	c.97G= (p.Glu33=)
12	g.5044244G>T	CA383461888	KCNA5	c.97G>T (p.Glu33Ter)	gnomAD v4
12	g.5044245A=	CA2013430554	KCNA5	c.98A= (p.Glu33=)
12	g.5044245A>C	CA383461889	KCNA5	c.98A>C (p.Glu33Ala)	gnomAD v4
12	g.5044245A>G	CA383461890	KCNA5	c.98A>G (p.Glu33Gly)	gnomAD v4
12	g.5044245A>T	CA6399540	KCNA5	c.98A>T (p.Glu33Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044246G>A	CA478094844	KCNA5	c.99G>A (p.Glu33=)	gnomAD v4
12	g.5044246G>C	CA383461891	KCNA5	c.99G>C (p.Glu33Asp)
12	g.5044246G>T	CA383461892	KCNA5	c.99G>T (p.Glu33Asp)	gnomAD v4

Number of alleles fetched