Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5045550C>A	CA383466411	KCNA5	c.1403C>A (p.Pro468His)
12	g.5045550C>G	CA383466412	KCNA5	c.1403C>G (p.Pro468Arg)
12	g.5045550C>T	CA383466413	KCNA5	c.1403C>T (p.Pro468Leu)	gnomAD v4
12	g.5045551T>A	CA478095872	KCNA5	c.1404T>A (p.Pro468=)
12	g.5045551T>C	CA478095873	KCNA5	c.1404T>C (p.Pro468=)
12	g.5045551T>G	CA478095874	KCNA5	c.1404T>G (p.Pro468=)	dbSNP gnomAD v4
12	g.5045551T=	CA2013431276	KCNA5	c.1404T= (p.Pro468=)
12	g.5045552G>A	CA383466416	KCNA5	c.1405G>A (p.Asp469Asn)
12	g.5045552G>C	CA383466415	KCNA5	c.1405G>C (p.Asp469His)
12	g.5045552G>T	CA383466414	KCNA5	c.1405G>T (p.Asp469Tyr)
12	g.5045553A>C	CA383466419	KCNA5	c.1406A>C (p.Asp469Ala)
12	g.5045553A>G	CA383466417	KCNA5	c.1406A>G (p.Asp469Gly)
12	g.5045553A>T	CA383466418	KCNA5	c.1406A>T (p.Asp469Val)
12	g.5045554C>A	CA6399864	KCNA5	c.1407C>A (p.Asp469Glu)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.5045554C=	CA2013431277	KCNA5	c.1407C= (p.Asp469=)
12	g.5045554C>G	CA383466420	KCNA5	c.1407C>G (p.Asp469Glu)
12	g.5045554C>T	CA6399865	KCNA5	c.1407C>T (p.Asp469=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.5045555G>A	CA383466423	KCNA5	c.1408G>A (p.Ala470Thr)	ClinVar dbSNP gnomAD v4
12	g.5045555G>C	CA383466422	KCNA5	c.1408G>C (p.Ala470Pro)
12	g.5045555G=	CA2013431278	KCNA5	c.1408G= (p.Ala470=)
12	g.5045555G>T	CA383466421	KCNA5	c.1408G>T (p.Ala470Ser)
12	g.5045556C>A	CA383466424	KCNA5	c.1409C>A (p.Ala470Asp)
12	g.5045556C=	CA2013431279	KCNA5	c.1409C= (p.Ala470=)
12	g.5045556C>G	CA383466425	KCNA5	c.1409C>G (p.Ala470Gly)
12	g.5045556C>T	CA383466426	KCNA5	c.1409C>T (p.Ala470Val)	dbSNP gnomAD v2
12	g.5045557C>A	CA478095879	KCNA5	c.1410C>A (p.Ala470=)
12	g.5045557C>G	CA478095880	KCNA5	c.1410C>G (p.Ala470=)	gnomAD v4
12	g.5045557C>T	CA478095883	KCNA5	c.1410C>T (p.Ala470=)	gnomAD v4
12	g.5045558T>A	CA383466427	KCNA5	c.1411T>A (p.Phe471Ile)
12	g.5045558T>C	CA383466428	KCNA5	c.1411T>C (p.Phe471Leu)
12	g.5045558T>G	CA383466429	KCNA5	c.1411T>G (p.Phe471Val)
12	g.5045559T>A	CA383466430	KCNA5	c.1412T>A (p.Phe471Tyr)
12	g.5045559T>C	CA383466432	KCNA5	c.1412T>C (p.Phe471Ser)
12	g.5045559T>G	CA383466431	KCNA5	c.1412T>G (p.Phe471Cys)
12	g.5045560C>A	CA383466433	KCNA5	c.1413C>A (p.Phe471Leu)
12	g.5045560C=	CA2013431280	KCNA5	c.1413C= (p.Phe471=)
12	g.5045560C>G	CA383466434	KCNA5	c.1413C>G (p.Phe471Leu)	gnomAD v4
12	g.5045560C>T	CA6399866	KCNA5	c.1413C>T (p.Phe471=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045561T>A	CA383466435	KCNA5	c.1414T>A (p.Trp472Arg)
12	g.5045561T>C	CA383466436	KCNA5	c.1414T>C (p.Trp472Arg)
12	g.5045561T>G	CA383466437	KCNA5	c.1414T>G (p.Trp472Gly)
12	g.5045562G>A	CA383466438	KCNA5	c.1415G>A (p.Trp472Ter)
12	g.5045562G>C	CA383466439	KCNA5	c.1415G>C (p.Trp472Ser)
12	g.5045562G=	CA2013431281	KCNA5	c.1415G= (p.Trp472=)
12	g.5045562G>T	CA383466440	KCNA5	c.1415G>T (p.Trp472Leu)	dbSNP gnomAD v2
12	g.5045563G>A	CA383466441	KCNA5	c.1416G>A (p.Trp472Ter)	gnomAD v4
12	g.5045563G>C	CA383466442	KCNA5	c.1416G>C (p.Trp472Cys)
12	g.5045563G>T	CA383466443	KCNA5	c.1416G>T (p.Trp472Cys)	gnomAD v4
12	g.5045564T>A	CA383466445	KCNA5	c.1417T>A (p.Trp473Arg)
12	g.5045564T>C	CA383466446	KCNA5	c.1417T>C (p.Trp473Arg)
12	g.5045564T>G	CA383466444	KCNA5	c.1417T>G (p.Trp473Gly)
12	g.5045565G>A	CA383466447	KCNA5	c.1418G>A (p.Trp473Ter)
12	g.5045565G>C	CA383466449	KCNA5	c.1418G>C (p.Trp473Ser)
12	g.5045565G>T	CA383466448	KCNA5	c.1418G>T (p.Trp473Leu)
12	g.5045566G>A	CA231868940	KCNA5	c.1419G>A (p.Trp473Ter)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045566G>C	CA383466450	KCNA5	c.1419G>C (p.Trp473Cys)
12	g.5045566G=	CA2013431282	KCNA5	c.1419G= (p.Trp473=)
12	g.5045566G>T	CA383466451	KCNA5	c.1419G>T (p.Trp473Cys)
12	g.5045567G>A	CA383466452	KCNA5	c.1420G>A (p.Ala474Thr)	gnomAD v4
12	g.5045567G>C	CA383466453	KCNA5	c.1420G>C (p.Ala474Pro)
12	g.5045567G>T	CA383466454	KCNA5	c.1420G>T (p.Ala474Ser)
12	g.5045567_5045568del	CA645578789	KCNA5	c.1420_1421del (p.Ala474SerfsTer?)	COSMIC
12	g.5045568C>A	CA383466455	KCNA5	c.1421C>A (p.Ala474Glu)	COSMIC
12	g.5045568C>G	CA383466456	KCNA5	c.1421C>G (p.Ala474Gly)
12	g.5045568C>T	CA383466457	KCNA5	c.1421C>T (p.Ala474Val)	gnomAD v4
12	g.5045569A=	CA2013431283	KCNA5	c.1422A= (p.Ala474=)
12	g.5045569A>C	CA478095899	KCNA5	c.1422A>C (p.Ala474=)
12	g.5045569A>G	CA478095900	KCNA5	c.1422A>G (p.Ala474=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045569A>T	CA478095901	KCNA5	c.1422A>T (p.Ala474=)
12	g.5045570G>A	CA383466458	KCNA5	c.1423G>A (p.Val475Met)	dbSNP gnomAD v4
12	g.5045570G>C	CA383466459	KCNA5	c.1423G>C (p.Val475Leu)
12	g.5045570G=	CA2013431284	KCNA5	c.1423G= (p.Val475=)
12	g.5045570G>T	CA383466460	KCNA5	c.1423G>T (p.Val475Leu)
12	g.5045571T>A	CA383466461	KCNA5	c.1424T>A (p.Val475Glu)
12	g.5045571T>C	CA383466463	KCNA5	c.1424T>C (p.Val475Ala)
12	g.5045571T>G	CA383466462	KCNA5	c.1424T>G (p.Val475Gly)	gnomAD v4
12	g.5045572G>A	CA478095902	KCNA5	c.1425G>A (p.Val475=)	gnomAD v4
12	g.5045572G>C	CA478095903	KCNA5	c.1425G>C (p.Val475=)
12	g.5045572G=	CA2013431285	KCNA5	c.1425G= (p.Val475=)
12	g.5045572G>T	CA6399867	KCNA5	c.1425G>T (p.Val475=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045573G>A	CA383466464	KCNA5	c.1426G>A (p.Val476Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5045573G>C	CA383466465	KCNA5	c.1426G>C (p.Val476Leu)	gnomAD v4
12	g.5045573G=	CA2013431286	KCNA5	c.1426G= (p.Val476=)
12	g.5045573G>T	CA6399868	KCNA5	c.1426G>T (p.Val476Phe)	dbSNP ExAC gnomAD v2
12	g.5045574T>A	CA383466466	KCNA5	c.1427T>A (p.Val476Asp)
12	g.5045574T>C	CA383466467	KCNA5	c.1427T>C (p.Val476Ala)
12	g.5045574T>G	CA383466468	KCNA5	c.1427T>G (p.Val476Gly)
12	g.5045575C>A	CA478095910	KCNA5	c.1428C>A (p.Val476=)
12	g.5045575C>G	CA478095911	KCNA5	c.1428C>G (p.Val476=)
12	g.5045575C>T	CA478095913	KCNA5	c.1428C>T (p.Val476=)
12	g.5045576A>C	CA383466469	KCNA5	c.1429A>C (p.Thr477Pro)
12	g.5045576A>G	CA383466470	KCNA5	c.1429A>G (p.Thr477Ala)
12	g.5045576A>T	CA383466471	KCNA5	c.1429A>T (p.Thr477Ser)
12	g.5045577C>A	CA383466473	KCNA5	c.1430C>A (p.Thr477Asn)	gnomAD v4 COSMIC
12	g.5045577C>G	CA383466474	KCNA5	c.1430C>G (p.Thr477Ser)
12	g.5045577C>T	CA383466472	KCNA5	c.1430C>T (p.Thr477Ile)
12	g.5045578C>A	CA478095919	KCNA5	c.1431C>A (p.Thr477=)
12	g.5045578C>G	CA478095920	KCNA5	c.1431C>G (p.Thr477=)
12	g.5045578C>T	CA478095921	KCNA5	c.1431C>T (p.Thr477=)	gnomAD v4
12	g.5045579A>C	CA383466475	KCNA5	c.1432A>C (p.Met478Leu)
12	g.5045579A>G	CA383466476	KCNA5	c.1432A>G (p.Met478Val)	gnomAD v4
12	g.5045579A>T	CA383466477	KCNA5	c.1432A>T (p.Met478Leu)
12	g.5045580T>A	CA383466478	KCNA5	c.1433T>A (p.Met478Lys)	gnomAD v4
12	g.5045580T>C	CA383466479	KCNA5	c.1433T>C (p.Met478Thr)	dbSNP gnomAD v2 gnomAD v4
12	g.5045580T>G	CA383466480	KCNA5	c.1433T>G (p.Met478Arg)
12	g.5045580T=	CA2013431287	KCNA5	c.1433T= (p.Met478=)
12	g.5045581G>A	CA383466481	KCNA5	c.1434G>A (p.Met478Ile)	dbSNP
12	g.5045581G>C	CA383466482	KCNA5	c.1434G>C (p.Met478Ile)
12	g.5045581G=	CA2013431289	KCNA5	c.1434G= (p.Met478=)
12	g.5045581G>T	CA383466483	KCNA5	c.1434G>T (p.Met478Ile)
12	g.5045581_5045582delinsGA	CA2013431288	KCNA5	c.1434_1435delinsGA (p.Met478=)
12	g.5045582del	CA603482591	KCNA5	c.1435del (p.Thr479ProfsTer8)	dbSNP gnomAD v2
12	g.5045582A>C	CA383466484	KCNA5	c.1435A>C (p.Thr479Pro)
12	g.5045582A>G	CA383466485	KCNA5	c.1435A>G (p.Thr479Ala)
12	g.5045582A>T	CA383466486	KCNA5	c.1435A>T (p.Thr479Ser)	gnomAD v4
12	g.5045583C>A	CA383466488	KCNA5	c.1436C>A (p.Thr479Asn)	gnomAD v4
12	g.5045583C>G	CA383466489	KCNA5	c.1436C>G (p.Thr479Ser)
12	g.5045583C>T	CA383466487	KCNA5	c.1436C>T (p.Thr479Ile)
12	g.5045584C>A	CA478095929	KCNA5	c.1437C>A (p.Thr479=)	gnomAD v4
12	g.5045584C>G	CA478095931	KCNA5	c.1437C>G (p.Thr479=)
12	g.5045584C>T	CA478095932	KCNA5	c.1437C>T (p.Thr479=)
12	g.5045585A>C	CA383466490	KCNA5	c.1438A>C (p.Thr480Pro)
12	g.5045585A>G	CA383466491	KCNA5	c.1438A>G (p.Thr480Ala)
12	g.5045585A>T	CA383466492	KCNA5	c.1438A>T (p.Thr480Ser)
12	g.5045586C>A	CA383466493	KCNA5	c.1439C>A (p.Thr480Asn)
12	g.5045586C>G	CA383466494	KCNA5	c.1439C>G (p.Thr480Ser)
12	g.5045586C>T	CA383466495	KCNA5	c.1439C>T (p.Thr480Ile)
12	g.5045587T>A	CA478095939	KCNA5	c.1440T>A (p.Thr480=)
12	g.5045587T>C	CA6399869	KCNA5	c.1440T>C (p.Thr480=)	dbSNP ExAC gnomAD v2
12	g.5045587T>G	CA478095940	KCNA5	c.1440T>G (p.Thr480=)	gnomAD v4
12	g.5045587T=	CA2013431290	KCNA5	c.1440T= (p.Thr480=)
12	g.5045588G>A	CA383466496	KCNA5	c.1441G>A (p.Val481Met)
12	g.5045588G>C	CA383466497	KCNA5	c.1441G>C (p.Val481Leu)	gnomAD v4
12	g.5045588G=	CA2013431291	KCNA5	c.1441G= (p.Val481=)
12	g.5045588G>T	CA383466498	KCNA5	c.1441G>T (p.Val481Leu)
12	g.5045589T>A	CA383466499	KCNA5	c.1442T>A (p.Val481Glu)
12	g.5045589T>C	CA383466500	KCNA5	c.1442T>C (p.Val481Ala)
12	g.5045589T>G	CA383466501	KCNA5	c.1442T>G (p.Val481Gly)
12	g.5045589dup	CA6399870	KCNA5	c.1442dup (p.Tyr483LeufsTer?)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045590G>A	CA478095946	KCNA5	c.1443G>A (p.Val481=)	dbSNP
12	g.5045590G>C	CA478095948	KCNA5	c.1443G>C (p.Val481=)	gnomAD v4
12	g.5045590G=	CA2013431292	KCNA5	c.1443G= (p.Val481=)
12	g.5045590G>T	CA478095949	KCNA5	c.1443G>T (p.Val481=)
12	g.5045591G>A	CA383466503	KCNA5	c.1444G>A (p.Gly482Ser)
12	g.5045591G>C	CA383466504	KCNA5	c.1444G>C (p.Gly482Arg)
12	g.5045591G>T	CA383466502	KCNA5	c.1444G>T (p.Gly482Cys)
12	g.5045592G>A	CA383466507	KCNA5	c.1445G>A (p.Gly482Asp)
12	g.5045592G>C	CA383466505	KCNA5	c.1445G>C (p.Gly482Ala)
12	g.5045592G>T	CA383466506	KCNA5	c.1445G>T (p.Gly482Val)
12	g.5045593C>A	CA478095951	KCNA5	c.1446C>A (p.Gly482=)
12	g.5045593C>G	CA478095952	KCNA5	c.1446C>G (p.Gly482=)
12	g.5045593C>T	CA478095953	KCNA5	c.1446C>T (p.Gly482=)
12	g.5045594T>A	CA383466508	KCNA5	c.1447T>A (p.Tyr483Asn)
12	g.5045594T>C	CA383466509	KCNA5	c.1447T>C (p.Tyr483His)
12	g.5045594T>G	CA383466510	KCNA5	c.1447T>G (p.Tyr483Asp)
12	g.5045594_5045595delinsTA	CA2013431293	KCNA5	c.1447_1448delinsTA (p.Tyr483=)
12	g.5045595del	CA2013431294	KCNA5	c.1448del (p.Tyr483SerfsTer4)	dbSNP
12	g.5045595A>C	CA383466511	KCNA5	c.1448A>C (p.Tyr483Ser)
12	g.5045595A>G	CA383466512	KCNA5	c.1448A>G (p.Tyr483Cys)
12	g.5045595A>T	CA383466513	KCNA5	c.1448A>T (p.Tyr483Phe)
12	g.5045596C>A	CA383466514	KCNA5	c.1449C>A (p.Tyr483Ter)
12	g.5045596C=	CA2013431295	KCNA5	c.1449C= (p.Tyr483=)
12	g.5045596C>G	CA383466515	KCNA5	c.1449C>G (p.Tyr483Ter)
12	g.5045596C>T	CA6399871	KCNA5	c.1449C>T (p.Tyr483=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045597G>A	CA231868985	KCNA5	c.1450G>A (p.Gly484Arg)	dbSNP
12	g.5045597G>C	CA383466516	KCNA5	c.1450G>C (p.Gly484Arg)	gnomAD v4
12	g.5045597G=	CA2013431296	KCNA5	c.1450G= (p.Gly484=)
12	g.5045597G>T	CA383466517	KCNA5	c.1450G>T (p.Gly484Trp)	gnomAD v4
12	g.5045598G>A	CA383466520	KCNA5	c.1451G>A (p.Gly484Glu)
12	g.5045598G>C	CA383466519	KCNA5	c.1451G>C (p.Gly484Ala)
12	g.5045598G>T	CA383466518	KCNA5	c.1451G>T (p.Gly484Val)
12	g.5045599G>A	CA478095962	KCNA5	c.1452G>A (p.Gly484=)	gnomAD v4
12	g.5045599G>C	CA478095964	KCNA5	c.1452G>C (p.Gly484=)
12	g.5045599G>T	CA478095963	KCNA5	c.1452G>T (p.Gly484=)	COSMIC
12	g.5045600G>A	CA383466521	KCNA5	c.1453G>A (p.Asp485Asn)	gnomAD v4 COSMIC
12	g.5045600G>C	CA383466522	KCNA5	c.1453G>C (p.Asp485His)	gnomAD v4
12	g.5045600G>T	CA383466523	KCNA5	c.1453G>T (p.Asp485Tyr)
12	g.5045601A>C	CA383466524	KCNA5	c.1454A>C (p.Asp485Ala)
12	g.5045601A>G	CA383466525	KCNA5	c.1454A>G (p.Asp485Gly)
12	g.5045601A>T	CA383466526	KCNA5	c.1454A>T (p.Asp485Val)
12	g.5045602C>A	CA383466527	KCNA5	c.1455C>A (p.Asp485Glu)
12	g.5045602C>G	CA383466528	KCNA5	c.1455C>G (p.Asp485Glu)
12	g.5045602C>T	CA478095971	KCNA5	c.1455C>T (p.Asp485=)
12	g.5045603A=	CA2013431297	KCNA5	c.1456A= (p.Met486=)
12	g.5045603A>C	CA383466529	KCNA5	c.1456A>C (p.Met486Leu)
12	g.5045603A>G	CA383466530	KCNA5	c.1456A>G (p.Met486Val)	dbSNP gnomAD v4
12	g.5045603A>T	CA383466531	KCNA5	c.1456A>T (p.Met486Leu)
12	g.5045604T>A	CA383466532	KCNA5	c.1457T>A (p.Met486Lys)
12	g.5045604T>C	CA383466533	KCNA5	c.1457T>C (p.Met486Thr)
12	g.5045604T>G	CA383466534	KCNA5	c.1457T>G (p.Met486Arg)	dbSNP gnomAD v2 gnomAD v4
12	g.5045604T=	CA2013431298	KCNA5	c.1457T= (p.Met486=)
12	g.5045605G>A	CA383466537	KCNA5	c.1458G>A (p.Met486Ile)
12	g.5045605G>C	CA383466536	KCNA5	c.1458G>C (p.Met486Ile)	gnomAD v4
12	g.5045605G>T	CA383466535	KCNA5	c.1458G>T (p.Met486Ile)
12	g.5045606A>C	CA478095976	KCNA5	c.1459A>C (p.Arg487=)
12	g.5045606A>G	CA383466538	KCNA5	c.1459A>G (p.Arg487Gly)
12	g.5045606A>T	CA383466539	KCNA5	c.1459A>T (p.Arg487Trp)
12	g.5045607G>A	CA383466540	KCNA5	c.1460G>A (p.Arg487Lys)
12	g.5045607G>C	CA383466541	KCNA5	c.1460G>C (p.Arg487Thr)
12	g.5045607G>T	CA383466542	KCNA5	c.1460G>T (p.Arg487Met)
12	g.5045608G>A	CA478095980	KCNA5	c.1461G>A (p.Arg487=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045608G>C	CA383466543	KCNA5	c.1461G>C (p.Arg487Ser)
12	g.5045608G=	CA2013431299	KCNA5	c.1461G= (p.Arg487=)
12	g.5045608G>T	CA383466544	KCNA5	c.1461G>T (p.Arg487Ser)
12	g.5045609C>A	CA383466545	KCNA5	c.1462C>A (p.Pro488Thr)
12	g.5045609C>G	CA383466546	KCNA5	c.1462C>G (p.Pro488Ala)
12	g.5045609C>T	CA383466547	KCNA5	c.1462C>T (p.Pro488Ser)	gnomAD v4
12	g.5045610C>A	CA383466548	KCNA5	c.1463C>A (p.Pro488His)
12	g.5045610C=	CA2013431300	KCNA5	c.1463C= (p.Pro488=)
12	g.5045610C>G	CA383466549	KCNA5	c.1463C>G (p.Pro488Arg)
12	g.5045610C>T	CA231868999	KCNA5	c.1463C>T (p.Pro488Leu)	dbSNP COSMIC
12	g.5045611C>A	CA478095984	KCNA5	c.1464C>A (p.Pro488=)
12	g.5045611C>G	CA478095986	KCNA5	c.1464C>G (p.Pro488=)
12	g.5045611C>T	CA478095985	KCNA5	c.1464C>T (p.Pro488=)	gnomAD v4
12	g.5045612A>C	CA383466552	KCNA5	c.1465A>C (p.Ile489Leu)
12	g.5045612A>G	CA383466551	KCNA5	c.1465A>G (p.Ile489Val)
12	g.5045612A>T	CA383466550	KCNA5	c.1465A>T (p.Ile489Phe)
12	g.5045613T>A	CA383466553	KCNA5	c.1466T>A (p.Ile489Asn)
12	g.5045613T>C	CA383466554	KCNA5	c.1466T>C (p.Ile489Thr)
12	g.5045613T>G	CA383466555	KCNA5	c.1466T>G (p.Ile489Ser)
12	g.5045613_5045615delinsTCA	CA2013431301	KCNA5	c.1466_1468delinsTCA (p.Ile489=)
12	g.5045614C>A	CA478095990	KCNA5	c.1467C>A (p.Ile489=)
12	g.5045614C=	CA2013431303	KCNA5	c.1467C= (p.Ile489=)
12	g.5045614C>G	CA383466556	KCNA5	c.1467C>G (p.Ile489Met)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5045614C>T	CA478095993	KCNA5	c.1467C>T (p.Ile489=)
12	g.5045615_5045616del	CA2013431302	KCNA5	c.1468_1469del (p.Thr490CysfsTer?)	dbSNP gnomAD v4
12	g.5045615A>C	CA383466557	KCNA5	c.1468A>C (p.Thr490Pro)
12	g.5045615A>G	CA383466558	KCNA5	c.1468A>G (p.Thr490Ala)
12	g.5045615A>T	CA383466559	KCNA5	c.1468A>T (p.Thr490Ser)
12	g.5045616C>A	CA383466560	KCNA5	c.1469C>A (p.Thr490Asn)
12	g.5045616C>G	CA383466561	KCNA5	c.1469C>G (p.Thr490Ser)
12	g.5045616C>T	CA383466562	KCNA5	c.1469C>T (p.Thr490Ile)	gnomAD v4
12	g.5045617T>A	CA478095999	KCNA5	c.1470T>A (p.Thr490=)	COSMIC
12	g.5045617T>C	CA478096001	KCNA5	c.1470T>C (p.Thr490=)	dbSNP gnomAD v4
12	g.5045617T>G	CA478096002	KCNA5	c.1470T>G (p.Thr490=)
12	g.5045617T=	CA2013431304	KCNA5	c.1470T= (p.Thr490=)
12	g.5045618G>A	CA383466563	KCNA5	c.1471G>A (p.Val491Ile)	ClinVar gnomAD v4
12	g.5045618G>C	CA383466564	KCNA5	c.1471G>C (p.Val491Leu)
12	g.5045618G>T	CA383466565	KCNA5	c.1471G>T (p.Val491Phe)
12	g.5045619T>A	CA383466567	KCNA5	c.1472T>A (p.Val491Asp)
12	g.5045619T>C	CA6399872	KCNA5	c.1472T>C (p.Val491Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045619T>G	CA383466566	KCNA5	c.1472T>G (p.Val491Gly)
12	g.5045619T=	CA2013431305	KCNA5	c.1472T= (p.Val491=)
12	g.5045620T>A	CA478096009	KCNA5	c.1473T>A (p.Val491=)
12	g.5045620T>C	CA478096010	KCNA5	c.1473T>C (p.Val491=)
12	g.5045620T>G	CA478096011	KCNA5	c.1473T>G (p.Val491=)
12	g.5045620T=	CA2013431306	KCNA5	c.1473T= (p.Val491=)
12	g.5045621G>A	CA383466568	KCNA5	c.1474G>A (p.Gly492Arg)	dbSNP gnomAD v2 gnomAD v4
12	g.5045621G>C	CA383466570	KCNA5	c.1474G>C (p.Gly492Arg)
12	g.5045621G=	CA2013431307	KCNA5	c.1474G= (p.Gly492=)
12	g.5045621G>T	CA383466569	KCNA5	c.1474G>T (p.Gly492Trp)
12	g.5045625dup	CA603482593	KCNA5	c.1478dup (p.Lys494GlnfsTer?)	dbSNP gnomAD v2 gnomAD v4
12	g.5045625del	CA2741226807	KCNA5	c.1478del (p.Gly493AlafsTer?)
12	g.5045622G>A	CA383466571	KCNA5	c.1475G>A (p.Gly492Glu)	COSMIC
12	g.5045622G>C	CA383466572	KCNA5	c.1475G>C (p.Gly492Ala)
12	g.5045622G>T	CA383466573	KCNA5	c.1475G>T (p.Gly492Val)
12	g.5045623G>A	CA478096017	KCNA5	c.1476G>A (p.Gly492=)	gnomAD v4
12	g.5045623G>C	CA478096018	KCNA5	c.1476G>C (p.Gly492=)
12	g.5045623G>T	CA478096019	KCNA5	c.1476G>T (p.Gly492=)
12	g.5045624G>A	CA383466574	KCNA5	c.1477G>A (p.Gly493Ser)	COSMIC
12	g.5045624G>C	CA383466575	KCNA5	c.1477G>C (p.Gly493Arg)
12	g.5045624G>T	CA383466576	KCNA5	c.1477G>T (p.Gly493Cys)
12	g.5045625G>A	CA383466577	KCNA5	c.1478G>A (p.Gly493Asp)	gnomAD v4
12	g.5045625G>C	CA383466578	KCNA5	c.1478G>C (p.Gly493Ala)
12	g.5045625G>T	CA383466579	KCNA5	c.1478G>T (p.Gly493Val)
12	g.5045626C>A	CA478096027	KCNA5	c.1479C>A (p.Gly493=)	gnomAD v4
12	g.5045626C>G	CA478096031	KCNA5	c.1479C>G (p.Gly493=)
12	g.5045626C>T	CA478096029	KCNA5	c.1479C>T (p.Gly493=)
12	g.5045627A=	CA2013431308	KCNA5	c.1480A= (p.Lys494=)
12	g.5045627A>C	CA383466580	KCNA5	c.1480A>C (p.Lys494Gln)
12	g.5045627A>G	CA383466581	KCNA5	c.1480A>G (p.Lys494Glu)
12	g.5045627A>T	CA383466582	KCNA5	c.1480A>T (p.Lys494Ter)	dbSNP gnomAD v3 gnomAD v4
12	g.5045628A>C	CA383466585	KCNA5	c.1481A>C (p.Lys494Thr)	gnomAD v4
12	g.5045628A>G	CA383466583	KCNA5	c.1481A>G (p.Lys494Arg)
12	g.5045628A>T	CA383466584	KCNA5	c.1481A>T (p.Lys494Met)
12	g.5045629G>A	CA478096038	KCNA5	c.1482G>A (p.Lys494=)
12	g.5045629G>C	CA383466586	KCNA5	c.1482G>C (p.Lys494Asn)
12	g.5045629G>T	CA383466587	KCNA5	c.1482G>T (p.Lys494Asn)
12	g.5045630A=	CA2013431309	KCNA5	c.1483A= (p.Ile495=)
12	g.5045630A>C	CA383466588	KCNA5	c.1483A>C (p.Ile495Leu)
12	g.5045630A>G	CA6399873	KCNA5	c.1483A>G (p.Ile495Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045630A>T	CA383466589	KCNA5	c.1483A>T (p.Ile495Phe)	dbSNP
12	g.5045631T>A	CA383466590	KCNA5	c.1484T>A (p.Ile495Asn)
12	g.5045631T>C	CA383466591	KCNA5	c.1484T>C (p.Ile495Thr)	gnomAD v4
12	g.5045631T>G	CA383466592	KCNA5	c.1484T>G (p.Ile495Ser)
12	g.5045632C>A	CA6399874	KCNA5	c.1485C>A (p.Ile495=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045632C=	CA2013431310	KCNA5	c.1485C= (p.Ile495=)
12	g.5045632C>G	CA383466593	KCNA5	c.1485C>G (p.Ile495Met)	COSMIC
12	g.5045632C>T	CA6399875	KCNA5	c.1485C>T (p.Ile495=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045633G>A	CA6399876	KCNA5	c.1486G>A (p.Val496Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045633G>C	CA383466595	KCNA5	c.1486G>C (p.Val496Leu)
12	g.5045633G=	CA2013431311	KCNA5	c.1486G= (p.Val496=)
12	g.5045633G>T	CA383466594	KCNA5	c.1486G>T (p.Val496Leu)
12	g.5045634T>A	CA383466596	KCNA5	c.1487T>A (p.Val496Glu)
12	g.5045634T>C	CA383466597	KCNA5	c.1487T>C (p.Val496Ala)	gnomAD v4
12	g.5045634T>G	CA383466598	KCNA5	c.1487T>G (p.Val496Gly)
12	g.5045635G>A	CA6399877	KCNA5	c.1488G>A (p.Val496=)	dbSNP ExAC gnomAD v4
12	g.5045635G>C	CA478096056	KCNA5	c.1488G>C (p.Val496=)
12	g.5045635G=	CA2013431312	KCNA5	c.1488G= (p.Val496=)
12	g.5045635G>T	CA478096055	KCNA5	c.1488G>T (p.Val496=)
12	g.5045636G>A	CA383466599	KCNA5	c.1489G>A (p.Gly497Ser)
12	g.5045636G>C	CA383466600	KCNA5	c.1489G>C (p.Gly497Arg)
12	g.5045636G>T	CA383466601	KCNA5	c.1489G>T (p.Gly497Cys)
12	g.5045637G>A	CA383466602	KCNA5	c.1490G>A (p.Gly497Asp)
12	g.5045637G>C	CA383466603	KCNA5	c.1490G>C (p.Gly497Ala)
12	g.5045637G>T	CA383466604	KCNA5	c.1490G>T (p.Gly497Val)
12	g.5045638C>A	CA478096061	KCNA5	c.1491C>A (p.Gly497=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045638C=	CA2013431313	KCNA5	c.1491C= (p.Gly497=)
12	g.5045638C>G	CA478096062	KCNA5	c.1491C>G (p.Gly497=)	gnomAD v4
12	g.5045638C>T	CA478096063	KCNA5	c.1491C>T (p.Gly497=)
12	g.5045639T>A	CA383466605	KCNA5	c.1492T>A (p.Ser498Thr)
12	g.5045639T>C	CA383466606	KCNA5	c.1492T>C (p.Ser498Pro)
12	g.5045639T>G	CA383466607	KCNA5	c.1492T>G (p.Ser498Ala)
12	g.5045640C>A	CA383466609	KCNA5	c.1493C>A (p.Ser498Ter)
12	g.5045640C=	CA2013431314	KCNA5	c.1493C= (p.Ser498=)
12	g.5045640C>G	CA383466608	KCNA5	c.1493C>G (p.Ser498Trp)
12	g.5045640C>T	CA6399878	KCNA5	c.1493C>T (p.Ser498Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045641G>A	CA6399879	KCNA5	c.1494G>A (p.Ser498=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045641G>C	CA6399880	KCNA5	c.1494G>C (p.Ser498=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045641G=	CA2013431315	KCNA5	c.1494G= (p.Ser498=)
12	g.5045641G>T	CA478096065	KCNA5	c.1494G>T (p.Ser498=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045642C>A	CA383466610	KCNA5	c.1495C>A (p.Leu499Met)	dbSNP
12	g.5045642C=	CA2013431316	KCNA5	c.1495C= (p.Leu499=)
12	g.5045642C>G	CA383466611	KCNA5	c.1495C>G (p.Leu499Val)
12	g.5045642C>T	CA478096069	KCNA5	c.1495C>T (p.Leu499=)	gnomAD v4
12	g.5045643T>A	CA383466612	KCNA5	c.1496T>A (p.Leu499Gln)
12	g.5045643T>C	CA383466613	KCNA5	c.1496T>C (p.Leu499Pro)
12	g.5045643T>G	CA383466614	KCNA5	c.1496T>G (p.Leu499Arg)
12	g.5045644G>A	CA6399881	KCNA5	c.1497G>A (p.Leu499=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045644G>C	CA478096071	KCNA5	c.1497G>C (p.Leu499=)
12	g.5045644G=	CA2013431317	KCNA5	c.1497G= (p.Leu499=)
12	g.5045644G>T	CA478096072	KCNA5	c.1497G>T (p.Leu499=)
12	g.5045645T>A	CA383466615	KCNA5	c.1498T>A (p.Cys500Ser)
12	g.5045645T>C	CA383466616	KCNA5	c.1498T>C (p.Cys500Arg)
12	g.5045645T>G	CA383466617	KCNA5	c.1498T>G (p.Cys500Gly)
12	g.5045646G>A	CA383466620	KCNA5	c.1499G>A (p.Cys500Tyr)	dbSNP
12	g.5045646G>C	CA383466619	KCNA5	c.1499G>C (p.Cys500Ser)
12	g.5045646G=	CA2013431318	KCNA5	c.1499G= (p.Cys500=)
12	g.5045646G>T	CA383466618	KCNA5	c.1499G>T (p.Cys500Phe)
12	g.5045647T>A	CA383466621	KCNA5	c.1500T>A (p.Cys500Ter)
12	g.5045647T>C	CA478096074	KCNA5	c.1500T>C (p.Cys500=)
12	g.5045647T>G	CA383466622	KCNA5	c.1500T>G (p.Cys500Trp)
12	g.5045648G>A	CA383466623	KCNA5	c.1501G>A (p.Ala501Thr)	ClinVar dbSNP
12	g.5045648G>C	CA383466625	KCNA5	c.1501G>C (p.Ala501Pro)
12	g.5045648G>T	CA383466624	KCNA5	c.1501G>T (p.Ala501Ser)
12	g.5045649C>A	CA383466626	KCNA5	c.1502C>A (p.Ala501Asp)
12	g.5045649C=	CA2013431319	KCNA5	c.1502C= (p.Ala501=)
12	g.5045649C>G	CA383466627	KCNA5	c.1502C>G (p.Ala501Gly)
12	g.5045649C>T	CA383466628	KCNA5	c.1502C>T (p.Ala501Val)	dbSNP
12	g.5045650C>A	CA478096076	KCNA5	c.1503C>A (p.Ala501=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045650C=	CA2013431320	KCNA5	c.1503C= (p.Ala501=)
12	g.5045650C>G	CA478096077	KCNA5	c.1503C>G (p.Ala501=)	gnomAD v4
12	g.5045650C>T	CA478096078	KCNA5	c.1503C>T (p.Ala501=)

Number of alleles fetched