Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.63947033_63947039del	CA2639315420	SCN4A	c.3441+6_3441+12del (n.3441+6_3441+12del)	gnomAD v4
17	g.63947037G>A	CA2639315450	SCN4A	c.3441+8C>T (n.3441+8C>T)	gnomAD v4
17	g.63947037G>C	CA2639315454	SCN4A	c.3441+8C>G (n.3441+8C>G)	gnomAD v4
17	g.63947037G>T	CA2639315452	SCN4A	c.3441+8C>A (n.3441+8C>A)	gnomAD v4
17	g.63947038C=	CA2270163755	SCN4A	c.3441+7G= (n.3441+7G=)
17	g.63947038C>T	CA155074	SCN4A	c.3441+7G>A (n.3441+7G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947039A>C	CA2639315471	SCN4A	c.3441+6T>G (n.3441+6T>G)	gnomAD v4
17	g.63947040C>A	CA2639315474	SCN4A	c.3441+5G>T (n.3441+5G>T)	gnomAD v4
17	g.63947041C>A	CA2639315480	SCN4A	c.3441+4G>T (n.3441+4G>T)	gnomAD v4
17	g.63947041C=	CA2270163756	SCN4A	c.3441+4G= (n.3441+4G=)
17	g.63947041C>T	CA8709282	SCN4A	c.3441+4G>A (n.3441+4G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947042C>A	CA2639315500	SCN4A	c.3441+3G>T (n.3441+3G>T)	gnomAD v4
17	g.63947043del	CA2639315503	SCN4A	c.3441+2del (n.3441+2del)	gnomAD v4
17	g.63947043A>C	CA400619224	SCN4A	c.3441+2T>G (n.3441+2T>G)	gnomAD v4
17	g.63947043A>G	CA400619226	SCN4A	c.3441+2T>C (n.3441+2T>C)
17	g.63947043A>T	CA400619233	SCN4A	c.3441+2T>A (n.3441+2T>A)
17	g.63947044C>A	CA400619234	SCN4A	c.3441+1G>T (n.3441+1G>T)	gnomAD v4
17	g.63947044C>G	CA400619236	SCN4A	c.3441+1G>C (n.3441+1G>C)
17	g.63947044C>T	CA400619237	SCN4A	c.3441+1G>A (n.3441+1G>A)
17	g.63947045C>A	CA400619242	SCN4A	c.3441G>T (p.Arg1147Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.63947045C=	CA2270163757	SCN4A	c.3441G= (p.Arg1147=)
17	g.63947045C>G	CA400619240	SCN4A	c.3441G>C (p.Arg1147Ser)	dbSNP gnomAD v3 gnomAD v4
17	g.63947045C>T	CA501219556	SCN4A	c.3441G>A (p.Arg1147=)
17	g.63947046C>A	CA400619244	SCN4A	c.3440G>T (p.Arg1147Met)	gnomAD v4
17	g.63947046C=	CA2270163758	SCN4A	c.3440G= (p.Arg1147=)
17	g.63947046C>G	CA400619246	SCN4A	c.3440G>C (p.Arg1147Thr)	ClinVar dbSNP gnomAD v4
17	g.63947046C>T	CA400619247	SCN4A	c.3440G>A (p.Arg1147Lys)	gnomAD v4
17	g.63947047T>A	CA400619251	SCN4A	c.3439A>T (p.Arg1147Trp)	dbSNP gnomAD v4
17	g.63947047T>C	CA400619252	SCN4A	c.3439A>G (p.Arg1147Gly)	dbSNP gnomAD v3 gnomAD v4
17	g.63947047T>G	CA501219576	SCN4A	c.3439A>C (p.Arg1147=)
17	g.63947047T=	CA2270163759	SCN4A	c.3439A= (p.Arg1147=)
17	g.63947048C>A	CA400619260	SCN4A	c.3438G>T (p.Met1146Ile)	dbSNP gnomAD v2
17	g.63947048C=	CA2270163760	SCN4A	c.3438G= (p.Met1146=)
17	g.63947048C>G	CA400619257	SCN4A	c.3438G>C (p.Met1146Ile)
17	g.63947048C>T	CA400619255	SCN4A	c.3438G>A (p.Met1146Ile)	gnomAD v4
17	g.63947049A=	CA2270163761	SCN4A	c.3437T= (p.Met1146=)
17	g.63947049A>C	CA400619262	SCN4A	c.3437T>G (p.Met1146Arg)	gnomAD v4
17	g.63947049A>G	CA8709283	SCN4A	c.3437T>C (p.Met1146Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63947049A>T	CA400619266	SCN4A	c.3437T>A (p.Met1146Lys)
17	g.63947050T>A	CA400619269	SCN4A	c.3436A>T (p.Met1146Leu)	gnomAD v4
17	g.63947050T>C	CA8709284	SCN4A	c.3436A>G (p.Met1146Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63947050T>G	CA400619272	SCN4A	c.3436A>C (p.Met1146Leu)
17	g.63947050T=	CA2270163762	SCN4A	c.3436A= (p.Met1146=)
17	g.63947051G>A	CA501219591	SCN4A	c.3435C>T (p.Gly1145=)
17	g.63947051G>C	CA501219595	SCN4A	c.3435C>G (p.Gly1145=)
17	g.63947051G>T	CA501219598	SCN4A	c.3435C>A (p.Gly1145=)	gnomAD v4
17	g.63947052C>A	CA400619274	SCN4A	c.3434G>T (p.Gly1145Val)
17	g.63947052C>G	CA400619279	SCN4A	c.3434G>C (p.Gly1145Ala)
17	g.63947052C>T	CA400619277	SCN4A	c.3434G>A (p.Gly1145Asp)
17	g.63947053C>A	CA400619282	SCN4A	c.3433G>T (p.Gly1145Cys)
17	g.63947053C>G	CA400619284	SCN4A	c.3433G>C (p.Gly1145Arg)
17	g.63947053C>T	CA400619286	SCN4A	c.3433G>A (p.Gly1145Ser)
17	g.63947054C>A	CA400619288	SCN4A	c.3432G>T (p.Glu1144Asp)	gnomAD v4
17	g.63947054C=	CA2270163763	SCN4A	c.3432G= (p.Glu1144=)
17	g.63947054C>G	CA400619291	SCN4A	c.3432G>C (p.Glu1144Asp)	gnomAD v4
17	g.63947054C>T	CA8709285	SCN4A	c.3432G>A (p.Glu1144=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947055T>A	CA400619295	SCN4A	c.3431A>T (p.Glu1144Val)	gnomAD v4
17	g.63947055T>C	CA400619296	SCN4A	c.3431A>G (p.Glu1144Gly)	gnomAD v4
17	g.63947055T>G	CA400619298	SCN4A	c.3431A>C (p.Glu1144Ala)
17	g.63947056C>A	CA400619301	SCN4A	c.3430G>T (p.Glu1144Ter)
17	g.63947056C=	CA2270163764	SCN4A	c.3430G= (p.Glu1144=)
17	g.63947056C>G	CA400619302	SCN4A	c.3430G>C (p.Glu1144Gln)	dbSNP gnomAD v2 gnomAD v4
17	g.63947056C>T	CA8709286	SCN4A	c.3430G>A (p.Glu1144Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63947056_63947057del	CA645580712	SCN4A	c.3429_3430del (p.Phe1143LeufsTer?)	COSMIC
17	g.63947057G>A	CA8709287	SCN4A	c.3429C>T (p.Phe1143=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947057G>C	CA400619308	SCN4A	c.3429C>G (p.Phe1143Leu)	gnomAD v4
17	g.63947057G=	CA2270163765	SCN4A	c.3429C= (p.Phe1143=)
17	g.63947057G>T	CA400619306	SCN4A	c.3429C>A (p.Phe1143Leu)
17	g.63947058A=	CA2270163766	SCN4A	c.3428T= (p.Phe1143=)
17	g.63947058A>C	CA400619312	SCN4A	c.3428T>G (p.Phe1143Cys)
17	g.63947058A>G	CA400619310	SCN4A	c.3428T>C (p.Phe1143Ser)
17	g.63947058A>T	CA400619314	SCN4A	c.3428T>A (p.Phe1143Tyr)	dbSNP gnomAD v3 gnomAD v4
17	g.63947059A>C	CA400619317	SCN4A	c.3427T>G (p.Phe1143Val)
17	g.63947059A>G	CA400619321	SCN4A	c.3427T>C (p.Phe1143Leu)
17	g.63947059A>T	CA400619319	SCN4A	c.3427T>A (p.Phe1143Ile)
17	g.63947060T>A	CA501219639	SCN4A	c.3426A>T (p.Arg1142=)
17	g.63947060T>C	CA501219640	SCN4A	c.3426A>G (p.Arg1142=)
17	g.63947060T>G	CA501219641	SCN4A	c.3426A>C (p.Arg1142=)
17	g.63947061C>A	CA8709289	SCN4A	c.3425G>T (p.Arg1142Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947061C=	CA2270163767	SCN4A	c.3425G= (p.Arg1142=)
17	g.63947061C>G	CA400619325	SCN4A	c.3425G>C (p.Arg1142Pro)
17	g.63947061C>T	CA8709288	SCN4A	c.3425G>A (p.Arg1142Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947062G>A	CA292962490	SCN4A	c.3424C>T (p.Arg1142Ter)	ClinVar dbSNP gnomAD v4
17	g.63947062G>C	CA400619328	SCN4A	c.3424C>G (p.Arg1142Gly)	gnomAD v4
17	g.63947062G=	CA2270163768	SCN4A	c.3424C= (p.Arg1142=)
17	g.63947062G>T	CA501219655	SCN4A	c.3424C>A (p.Arg1142=)
17	g.63947063G>A	CA501219664	SCN4A	c.3423C>T (p.Ser1141=)
17	g.63947063G>C	CA501219663	SCN4A	c.3423C>G (p.Ser1141=)
17	g.63947063G>T	CA501219659	SCN4A	c.3423C>A (p.Ser1141=)
17	g.63947064G>A	CA400619330	SCN4A	c.3422C>T (p.Ser1141Phe)
17	g.63947064G>C	CA400619332	SCN4A	c.3422C>G (p.Ser1141Cys)
17	g.63947064G>T	CA400619334	SCN4A	c.3422C>A (p.Ser1141Tyr)
17	g.63947065A>C	CA400619336	SCN4A	c.3421T>G (p.Ser1141Ala)
17	g.63947065A>G	CA400619338	SCN4A	c.3421T>C (p.Ser1141Pro)
17	g.63947065A>T	CA400619340	SCN4A	c.3421T>A (p.Ser1141Thr)
17	g.63947066C>A	CA501219678	SCN4A	c.3420G>T (p.Leu1140=)
17	g.63947066C=	CA2270163769	SCN4A	c.3420G= (p.Leu1140=)
17	g.63947066C>G	CA501219680	SCN4A	c.3420G>C (p.Leu1140=)	dbSNP gnomAD v3 gnomAD v4
17	g.63947066C>T	CA501219683	SCN4A	c.3420G>A (p.Leu1140=)
17	g.63947067A>C	CA400619341	SCN4A	c.3419T>G (p.Leu1140Arg)
17	g.63947067A>G	CA400619342	SCN4A	c.3419T>C (p.Leu1140Pro)
17	g.63947067A>T	CA400619344	SCN4A	c.3419T>A (p.Leu1140Gln)
17	g.63947068G>A	CA501219692	SCN4A	c.3418C>T (p.Leu1140=)	dbSNP gnomAD v3 gnomAD v4
17	g.63947068G>C	CA400619350	SCN4A	c.3418C>G (p.Leu1140Val)
17	g.63947068G=	CA2270163770	SCN4A	c.3418C= (p.Leu1140=)
17	g.63947068G>T	CA400619347	SCN4A	c.3418C>A (p.Leu1140Met)
17	g.63947069T>A	CA501219699	SCN4A	c.3417A>T (p.Ala1139=)
17	g.63947069T>C	CA501219701	SCN4A	c.3417A>G (p.Ala1139=)
17	g.63947069T>G	CA501219703	SCN4A	c.3417A>C (p.Ala1139=)
17	g.63947070G>A	CA400619351	SCN4A	c.3416C>T (p.Ala1139Val)	dbSNP
17	g.63947070G>C	CA400619352	SCN4A	c.3416C>G (p.Ala1139Gly)
17	g.63947070G=	CA2270163771	SCN4A	c.3416C= (p.Ala1139=)
17	g.63947070G>T	CA400619353	SCN4A	c.3416C>A (p.Ala1139Glu)
17	g.63947074_63947091dup	CA2639315708	SCN4A	c.3399_3416dup (p.Ala1139_Leu1140insLeuArgProLeuArgAla)	gnomAD v4
17	g.63947071C>A	CA400619355	SCN4A	c.3415G>T (p.Ala1139Ser)
17	g.63947071C>G	CA400619357	SCN4A	c.3415G>C (p.Ala1139Pro)
17	g.63947071C>T	CA400619360	SCN4A	c.3415G>A (p.Ala1139Thr)	gnomAD v4 COSMIC
17	g.63947073del	CA2639315719	SCN4A	c.3415del (p.Ala1139HisfsTer8)	gnomAD v4
17	g.63947072C>A	CA400619362	SCN4A	c.3414G>T (p.Arg1138Ser)
17	g.63947072C>G	CA400619363	SCN4A	c.3414G>C (p.Arg1138Ser)
17	g.63947072C>T	CA501219723	SCN4A	c.3414G>A (p.Arg1138=)
17	g.63947073C>A	CA400619365	SCN4A	c.3413G>T (p.Arg1138Met)	COSMIC
17	g.63947073C>G	CA400619367	SCN4A	c.3413G>C (p.Arg1138Thr)
17	g.63947073C>T	CA400619369	SCN4A	c.3413G>A (p.Arg1138Lys)
17	g.63947074T>A	CA400619371	SCN4A	c.3412A>T (p.Arg1138Trp)
17	g.63947074T>C	CA400619372	SCN4A	c.3412A>G (p.Arg1138Gly)
17	g.63947074T>G	CA501219733	SCN4A	c.3412A>C (p.Arg1138=)
17	g.63947074T=	CA2270163772	SCN4A	c.3412A= (p.Arg1138=)
17	g.63947075C>A	CA501219739	SCN4A	c.3411G>T (p.Leu1137=)
17	g.63947075C>G	CA501219741	SCN4A	c.3411G>C (p.Leu1137=)
17	g.63947075C>T	CA501219743	SCN4A	c.3411G>A (p.Leu1137=)
17	g.63947078_63947095dup	CA919876810	SCN4A	c.3394_3411dup (p.Leu1137_Arg1138insArgAlaLeuArgProLeu)	dbSNP
17	g.63947076A>C	CA400619373	SCN4A	c.3410T>G (p.Leu1137Arg)
17	g.63947076A>G	CA400619377	SCN4A	c.3410T>C (p.Leu1137Pro)
17	g.63947076A>T	CA400619375	SCN4A	c.3410T>A (p.Leu1137Gln)
17	g.63947077G>A	CA501219751	SCN4A	c.3409C>T (p.Leu1137=)
17	g.63947077G>C	CA400619380	SCN4A	c.3409C>G (p.Leu1137Val)
17	g.63947077G>T	CA400619382	SCN4A	c.3409C>A (p.Leu1137Met)
17	g.63947078G>A	CA501219756	SCN4A	c.3408C>T (p.Pro1136=)	gnomAD v4
17	g.63947078G>C	CA501219757	SCN4A	c.3408C>G (p.Pro1136=)
17	g.63947078G>T	CA501219759	SCN4A	c.3408C>A (p.Pro1136=)
17	g.63947079G>A	CA400619383	SCN4A	c.3407C>T (p.Pro1136Leu)	COSMIC
17	g.63947079G>C	CA400619384	SCN4A	c.3407C>G (p.Pro1136Arg)
17	g.63947079G>T	CA400619385	SCN4A	c.3407C>A (p.Pro1136His)
17	g.63947080G>A	CA400619386	SCN4A	c.3406C>T (p.Pro1136Ser)
17	g.63947080G>C	CA400619388	SCN4A	c.3406C>G (p.Pro1136Ala)
17	g.63947080G>T	CA400619389	SCN4A	c.3406C>A (p.Pro1136Thr)	gnomAD v4
17	g.63947081A=	CA2270163773	SCN4A	c.3405T= (p.Arg1135=)
17	g.63947081A>C	CA501219773	SCN4A	c.3405T>G (p.Arg1135=)
17	g.63947081A>G	CA501219775	SCN4A	c.3405T>C (p.Arg1135=)	dbSNP gnomAD v2 gnomAD v4
17	g.63947081A>T	CA501219778	SCN4A	c.3405T>A (p.Arg1135=)
17	g.63947082C>A	CA400619391	SCN4A	c.3404G>T (p.Arg1135Leu)
17	g.63947082C=	CA2270163774	SCN4A	c.3404G= (p.Arg1135=)
17	g.63947082C>G	CA400619393	SCN4A	c.3404G>C (p.Arg1135Pro)	ClinVar
17	g.63947082C>T	CA345720	SCN4A	c.3404G>A (p.Arg1135His)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.63947083G>A	CA400619401	SCN4A	c.3403C>T (p.Arg1135Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947083G>C	CA400619399	SCN4A	c.3403C>G (p.Arg1135Gly)
17	g.63947083G=	CA2270163775	SCN4A	c.3403C= (p.Arg1135=)
17	g.63947083G>T	CA400619397	SCN4A	c.3403C>A (p.Arg1135Ser)	ClinVar dbSNP COSMIC
17	g.63947084C>A	CA8709290	SCN4A	c.3402G>T (p.Leu1134=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63947084C=	CA2270163776	SCN4A	c.3402G= (p.Leu1134=)
17	g.63947084C>G	CA501219791	SCN4A	c.3402G>C (p.Leu1134=)	COSMIC
17	g.63947084C>T	CA501219787	SCN4A	c.3402G>A (p.Leu1134=)	ClinVar
17	g.63947085A=	CA2270163777	SCN4A	c.3401T= (p.Leu1134=)
17	g.63947085A>C	CA400619406	SCN4A	c.3401T>G (p.Leu1134Arg)
17	g.63947085A>G	CA400619407	SCN4A	c.3401T>C (p.Leu1134Pro)	dbSNP gnomAD v2 gnomAD v4
17	g.63947085A>T	CA400619410	SCN4A	c.3401T>A (p.Leu1134Gln)
17	g.63947086G>A	CA501219810	SCN4A	c.3400C>T (p.Leu1134=)	COSMIC
17	g.63947086G>C	CA400619413	SCN4A	c.3400C>G (p.Leu1134Val)
17	g.63947086G>T	CA400619416	SCN4A	c.3400C>A (p.Leu1134Met)	COSMIC
17	g.63947087G>A	CA501219814	SCN4A	c.3399C>T (p.Ala1133=)
17	g.63947087G>C	CA501219813	SCN4A	c.3399C>G (p.Ala1133=)	gnomAD v4
17	g.63947087G>T	CA501219812	SCN4A	c.3399C>A (p.Ala1133=)
17	g.63947088G>A	CA400619421	SCN4A	c.3398C>T (p.Ala1133Val)	ClinVar
17	g.63947088G>C	CA400619430	SCN4A	c.3398C>G (p.Ala1133Gly)
17	g.63947088G>T	CA400619435	SCN4A	c.3398C>A (p.Ala1133Asp)
17	g.63947089C>A	CA400619439	SCN4A	c.3397G>T (p.Ala1133Ser)
17	g.63947089C>G	CA400619442	SCN4A	c.3397G>C (p.Ala1133Pro)
17	g.63947089C>T	CA400619447	SCN4A	c.3397G>A (p.Ala1133Thr)
17	g.63947091del	CA2580094600	SCN4A	c.3397del (p.Ala1133ProfsTer5)	ClinVar
17	g.63947090C>A	CA501219822	SCN4A	c.3396G>T (p.Arg1132=)	dbSNP
17	g.63947090C=	CA2270163778	SCN4A	c.3396G= (p.Arg1132=)
17	g.63947090C>G	CA501219827	SCN4A	c.3396G>C (p.Arg1132=)
17	g.63947090C>T	CA501219825	SCN4A	c.3396G>A (p.Arg1132=)	dbSNP gnomAD v2 gnomAD v4
17	g.63947091C>A	CA400619457	SCN4A	c.3395G>T (p.Arg1132Leu)
17	g.63947091C=	CA2270163779	SCN4A	c.3395G= (p.Arg1132=)
17	g.63947091C>G	CA400619454	SCN4A	c.3395G>C (p.Arg1132Pro)
17	g.63947091C>T	CA263213	SCN4A	c.3395G>A (p.Arg1132Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947092G>A	CA8709291	SCN4A	c.3394C>T (p.Arg1132Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63947092G>C	CA400619461	SCN4A	c.3394C>G (p.Arg1132Gly)	ClinVar dbSNP
17	g.63947092G=	CA2270163780	SCN4A	c.3394C= (p.Arg1132=)
17	g.63947092G>T	CA501219837	SCN4A	c.3394C>A (p.Arg1132=)	ClinVar dbSNP gnomAD v2
17	g.63947093C>A	CA501219841	SCN4A	c.3393G>T (p.Leu1131=)
17	g.63947093C>G	CA501219844	SCN4A	c.3393G>C (p.Leu1131=)
17	g.63947093C>T	CA501219845	SCN4A	c.3393G>A (p.Leu1131=)
17	g.63947094A=	CA2270163781	SCN4A	c.3392T= (p.Leu1131=)
17	g.63947094A>C	CA400619466	SCN4A	c.3392T>G (p.Leu1131Arg)	ClinVar gnomAD v4
17	g.63947094A>G	CA8709292	SCN4A	c.3392T>C (p.Leu1131Pro)	dbSNP ExAC gnomAD v2
17	g.63947094A>T	CA400619470	SCN4A	c.3392T>A (p.Leu1131Gln)
17	g.63947095G>A	CA501219850	SCN4A	c.3391C>T (p.Leu1131=)
17	g.63947095G>C	CA400619473	SCN4A	c.3391C>G (p.Leu1131Val)
17	g.63947095G=	CA2270163782	SCN4A	c.3391C= (p.Leu1131=)
17	g.63947095G>T	CA8709293	SCN4A	c.3391C>A (p.Leu1131Met)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63947096T>A	CA501219857	SCN4A	c.3390A>T (p.Thr1130=)
17	g.63947096T>C	CA8709294	SCN4A	c.3390A>G (p.Thr1130=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63947096T>G	CA501219862	SCN4A	c.3390A>C (p.Thr1130=)	gnomAD v4
17	g.63947096T=	CA2270163783	SCN4A	c.3390A= (p.Thr1130=)
17	g.63947097G>A	CA400619480	SCN4A	c.3389C>T (p.Thr1130Ile)
17	g.63947097G>C	CA400619483	SCN4A	c.3389C>G (p.Thr1130Arg)
17	g.63947097G>T	CA400619487	SCN4A	c.3389C>A (p.Thr1130Lys)
17	g.63947098T>A	CA400619491	SCN4A	c.3388A>T (p.Thr1130Ser)
17	g.63947098T>C	CA400619494	SCN4A	c.3388A>G (p.Thr1130Ala)
17	g.63947098T>G	CA400619496	SCN4A	c.3388A>C (p.Thr1130Pro)
17	g.63947099C>A	CA501219874	SCN4A	c.3387G>T (p.Arg1129=)
17	g.63947099C>G	CA501219877	SCN4A	c.3387G>C (p.Arg1129=)
17	g.63947099C>T	CA501219879	SCN4A	c.3387G>A (p.Arg1129=)	COSMIC
17	g.63947100C>A	CA400620459	SCN4A	c.3386G>T (p.Arg1129Leu)
17	g.63947100C=	CA2270163784	SCN4A	c.3386G= (p.Arg1129=)
17	g.63947100C>G	CA292962517	SCN4A	c.3386G>C (p.Arg1129Pro)	ClinVar dbSNP
17	g.63947100C>T	CA345719	SCN4A	c.3386G>A (p.Arg1129Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947101G>A	CA8709295	SCN4A	c.3385C>T (p.Arg1129Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.63947101G>C	CA400620464	SCN4A	c.3385C>G (p.Arg1129Gly)
17	g.63947101G=	CA2270163785	SCN4A	c.3385C= (p.Arg1129=)
17	g.63947101G>T	CA501220230	SCN4A	c.3385C>A (p.Arg1129=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947102C>A	CA501220232	SCN4A	c.3384G>T (p.Leu1128=)
17	g.63947102C>G	CA501220234	SCN4A	c.3384G>C (p.Leu1128=)
17	g.63947102C>T	CA501220236	SCN4A	c.3384G>A (p.Leu1128=)
17	g.63947103A>C	CA400620470	SCN4A	c.3383T>G (p.Leu1128Arg)
17	g.63947103A>G	CA400620474	SCN4A	c.3383T>C (p.Leu1128Pro)	gnomAD v4
17	g.63947103A>T	CA400620476	SCN4A	c.3383T>A (p.Leu1128Gln)
17	g.63947104G>A	CA501220237	SCN4A	c.3382C>T (p.Leu1128=)
17	g.63947104G>C	CA400620480	SCN4A	c.3382C>G (p.Leu1128Val)
17	g.63947104G>T	CA400620482	SCN4A	c.3382C>A (p.Leu1128Met)
17	g.63947105G>A	CA501220239	SCN4A	c.3381C>T (p.Ser1127=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947105G>C	CA501220240	SCN4A	c.3381C>G (p.Ser1127=)
17	g.63947105G=	CA2270163786	SCN4A	c.3381C= (p.Ser1127=)
17	g.63947105G>T	CA501220238	SCN4A	c.3381C>A (p.Ser1127=)
17	g.63947106G>A	CA400620484	SCN4A	c.3380C>T (p.Ser1127Phe)	gnomAD v4
17	g.63947106G>C	CA400620487	SCN4A	c.3380C>G (p.Ser1127Cys)
17	g.63947106G>T	CA400620490	SCN4A	c.3380C>A (p.Ser1127Tyr)
17	g.63947107A>C	CA400620495	SCN4A	c.3379T>G (p.Ser1127Ala)
17	g.63947107A>G	CA400620498	SCN4A	c.3379T>C (p.Ser1127Pro)	dbSNP gnomAD v3 gnomAD v4
17	g.63947107A>T	CA400620501	SCN4A	c.3379T>A (p.Ser1127Thr)	gnomAD v4
17	g.63947108T>A	CA400620506	SCN4A	c.3378A>T (p.Lys1126Asn)
17	g.63947108T>C	CA501220243	SCN4A	c.3378A>G (p.Lys1126=)
17	g.63947108T>G	CA400620508	SCN4A	c.3378A>C (p.Lys1126Asn)
17	g.63947110del	CA2576355668	SCN4A	c.3378del (p.Lys1126AsnfsTer12)
17	g.63947109T>A	CA400620513	SCN4A	c.3377A>T (p.Lys1126Ile)
17	g.63947109T>C	CA400620516	SCN4A	c.3377A>G (p.Lys1126Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63947109T>G	CA400620520	SCN4A	c.3377A>C (p.Lys1126Thr)
17	g.63947109T=	CA2270163787	SCN4A	c.3377A= (p.Lys1126=)
17	g.63947110T>A	CA400620523	SCN4A	c.3376A>T (p.Lys1126Ter)	dbSNP
17	g.63947110T>C	CA400620524	SCN4A	c.3376A>G (p.Lys1126Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947110T>G	CA400620527	SCN4A	c.3376A>C (p.Lys1126Gln)	gnomAD v4
17	g.63947110T=	CA2270163788	SCN4A	c.3376A= (p.Lys1126=)
17	g.63947111G>A	CA501220249	SCN4A	c.3375C>T (p.Ile1125=)
17	g.63947111G>C	CA400620530	SCN4A	c.3375C>G (p.Ile1125Met)
17	g.63947111G>T	CA501220250	SCN4A	c.3375C>A (p.Ile1125=)
17	g.63947112A=	CA2270163789	SCN4A	c.3374T= (p.Ile1125=)
17	g.63947112A>C	CA400620534	SCN4A	c.3374T>G (p.Ile1125Ser)	gnomAD v4
17	g.63947112A>G	CA400620537	SCN4A	c.3374T>C (p.Ile1125Thr)
17	g.63947112A>T	CA400620541	SCN4A	c.3374T>A (p.Ile1125Asn)	dbSNP
17	g.63947113del	CA2639315910	SCN4A	c.3373del (p.Ile1125SerfsTer13)	gnomAD v4
17	g.63947113T>A	CA400620544	SCN4A	c.3373A>T (p.Ile1125Phe)
17	g.63947113T>C	CA400620546	SCN4A	c.3373A>G (p.Ile1125Val)
17	g.63947113T>G	CA400620549	SCN4A	c.3373A>C (p.Ile1125Leu)	gnomAD v4
17	g.63947114G>A	CA501220251	SCN4A	c.3372C>T (p.Pro1124=)
17	g.63947114G>C	CA501220252	SCN4A	c.3372C>G (p.Pro1124=)
17	g.63947114G>T	CA501220253	SCN4A	c.3372C>A (p.Pro1124=)
17	g.63947115G>A	CA400620558	SCN4A	c.3371C>T (p.Pro1124Leu)
17	g.63947115G>C	CA400620552	SCN4A	c.3371C>G (p.Pro1124Arg)
17	g.63947115G=	CA2270163790	SCN4A	c.3371C= (p.Pro1124=)
17	g.63947115G>T	CA292962523	SCN4A	c.3371C>A (p.Pro1124His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947116G>A	CA400620562	SCN4A	c.3370C>T (p.Pro1124Ser)
17	g.63947116G>C	CA400620564	SCN4A	c.3370C>G (p.Pro1124Ala)
17	g.63947116G>T	CA400620567	SCN4A	c.3370C>A (p.Pro1124Thr)
17	g.63947117T>A	CA501220259	SCN4A	c.3369A>T (p.Gly1123=)
17	g.63947117T>C	CA501220261	SCN4A	c.3369A>G (p.Gly1123=)	gnomAD v4
17	g.63947117T>G	CA501220262	SCN4A	c.3369A>C (p.Gly1123=)
17	g.63947118C>A	CA400620572	SCN4A	c.3368G>T (p.Gly1123Val)
17	g.63947118C>G	CA400620573	SCN4A	c.3368G>C (p.Gly1123Ala)
17	g.63947118C>T	CA400620576	SCN4A	c.3368G>A (p.Gly1123Glu)	ClinVar
17	g.63947119C>A	CA400620580	SCN4A	c.3367G>T (p.Gly1123Ter)	dbSNP gnomAD v4
17	g.63947119C=	CA2270163791	SCN4A	c.3367G= (p.Gly1123=)
17	g.63947119C>G	CA292962525	SCN4A	c.3367G>C (p.Gly1123Arg)	dbSNP gnomAD v3 gnomAD v4
17	g.63947119C>T	CA400620586	SCN4A	c.3367G>A (p.Gly1123Arg)	gnomAD v4
17	g.63947120C>A	CA501220266	SCN4A	c.3366G>T (p.Leu1122=)
17	g.63947120C>G	CA501220267	SCN4A	c.3366G>C (p.Leu1122=)
17	g.63947120C>T	CA501220268	SCN4A	c.3366G>A (p.Leu1122=)
17	g.63947121A>C	CA400620590	SCN4A	c.3365T>G (p.Leu1122Arg)	gnomAD v4
17	g.63947121A>G	CA400620593	SCN4A	c.3365T>C (p.Leu1122Pro)
17	g.63947121A>T	CA400620595	SCN4A	c.3365T>A (p.Leu1122Gln)
17	g.63947122G>A	CA501220272	SCN4A	c.3364C>T (p.Leu1122=)	gnomAD v4
17	g.63947122G>C	CA400620599	SCN4A	c.3364C>G (p.Leu1122Val)
17	g.63947122G>T	CA400620602	SCN4A	c.3364C>A (p.Leu1122Met)
17	g.63947123C>A	CA400620606	SCN4A	c.3363G>T (p.Glu1121Asp)
17	g.63947123C>G	CA400620609	SCN4A	c.3363G>C (p.Glu1121Asp)
17	g.63947123C>T	CA501220276	SCN4A	c.3363G>A (p.Glu1121=)
17	g.63947124T>A	CA400620613	SCN4A	c.3362A>T (p.Glu1121Val)
17	g.63947124T>C	CA400620619	SCN4A	c.3362A>G (p.Glu1121Gly)
17	g.63947124T>G	CA400620616	SCN4A	c.3362A>C (p.Glu1121Ala)
17	g.63947125C>A	CA400620623	SCN4A	c.3361G>T (p.Glu1121Ter)	dbSNP gnomAD v2
17	g.63947125C=	CA2270163792	SCN4A	c.3361G= (p.Glu1121=)
17	g.63947125C>G	CA400620626	SCN4A	c.3361G>C (p.Glu1121Gln)
17	g.63947125C>T	CA8709296	SCN4A	c.3361G>A (p.Glu1121Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63947126C>A	CA501220280	SCN4A	c.3360G>T (p.Ser1120=)
17	g.63947126C=	CA2270163793	SCN4A	c.3360G= (p.Ser1120=)
17	g.63947126C>G	CA501220281	SCN4A	c.3360G>C (p.Ser1120=)	gnomAD v4
17	g.63947126C>T	CA8709297	SCN4A	c.3360G>A (p.Ser1120=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63947127G>A	CA400620634	SCN4A	c.3359C>T (p.Ser1120Leu)	ClinVar dbSNP gnomAD v4
17	g.63947127G>C	CA400620638	SCN4A	c.3359C>G (p.Ser1120Trp)
17	g.63947127G=	CA2270163794	SCN4A	c.3359C= (p.Ser1120=)
17	g.63947127G>T	CA400620641	SCN4A	c.3359C>A (p.Ser1120Ter)	dbSNP COSMIC
17	g.63947128A=	CA2270163795	SCN4A	c.3358T= (p.Ser1120=)
17	g.63947128A>C	CA400620645	SCN4A	c.3358T>G (p.Ser1120Ala)
17	g.63947128A>G	CA400620648	SCN4A	c.3358T>C (p.Ser1120Pro)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63947128A>T	CA400620651	SCN4A	c.3358T>A (p.Ser1120Thr)
17	g.63947129G>A	CA292962531	SCN4A	c.3357C>T (p.Tyr1119=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63947129G>C	CA400620655	SCN4A	c.3357C>G (p.Tyr1119Ter)
17	g.63947129G=	CA2270163796	SCN4A	c.3357C= (p.Tyr1119=)
17	g.63947129G>T	CA400620658	SCN4A	c.3357C>A (p.Tyr1119Ter)
17	g.63947130T>A	CA400620664	SCN4A	c.3356A>T (p.Tyr1119Phe)
17	g.63947130T>C	CA400620668	SCN4A	c.3356A>G (p.Tyr1119Cys)
17	g.63947130T>G	CA400620666	SCN4A	c.3356A>C (p.Tyr1119Ser)
17	g.63947131A>C	CA400620671	SCN4A	c.3355T>G (p.Tyr1119Asp)
17	g.63947131A>G	CA400620673	SCN4A	c.3355T>C (p.Tyr1119His)
17	g.63947131A>T	CA400620675	SCN4A	c.3355T>A (p.Tyr1119Asn)
17	g.63947132G>A	CA501220289	SCN4A	c.3354C>T (p.Gly1118=)
17	g.63947132G>C	CA501220290	SCN4A	c.3354C>G (p.Gly1118=)
17	g.63947132G>T	CA501220291	SCN4A	c.3354C>A (p.Gly1118=)
17	g.63947133C>A	CA400620678	SCN4A	c.3353G>T (p.Gly1118Val)
17	g.63947133C>G	CA400620680	SCN4A	c.3353G>C (p.Gly1118Ala)	gnomAD v4
17	g.63947133C>T	CA400620682	SCN4A	c.3353G>A (p.Gly1118Asp)
17	g.63947134C>A	CA292962534	SCN4A	c.3352G>T (p.Gly1118Cys)	dbSNP
17	g.63947134C=	CA2270163797	SCN4A	c.3352G= (p.Gly1118=)
17	g.63947134C>G	CA400620686	SCN4A	c.3352G>C (p.Gly1118Arg)
17	g.63947134C>T	CA400620689	SCN4A	c.3352G>A (p.Gly1118Ser)	ClinVar
17	g.63947135C>A	CA501220296	SCN4A	c.3351G>T (p.Leu1117=)
17	g.63947135C>G	CA501220298	SCN4A	c.3351G>C (p.Leu1117=)
17	g.63947135C>T	CA501220300	SCN4A	c.3351G>A (p.Leu1117=)
17	g.63947136A>C	CA400620694	SCN4A	c.3350T>G (p.Leu1117Arg)
17	g.63947136A>G	CA400620696	SCN4A	c.3350T>C (p.Leu1117Pro)
17	g.63947136A>T	CA400620693	SCN4A	c.3350T>A (p.Leu1117Gln)
17	g.63947137G>A	CA501220301	SCN4A	c.3349C>T (p.Leu1117=)	gnomAD v4
17	g.63947137G>C	CA400620699	SCN4A	c.3349C>G (p.Leu1117Val)
17	g.63947137G>T	CA400620701	SCN4A	c.3349C>A (p.Leu1117Met)

Number of alleles fetched