Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.165097282A>C	CA429880805	SCN3A	c.4158T>G (p.Val1386=) c.4209T>G (p.Val1403=) c.2050T>G (n.2050T>G) c.943T>G (n.943T>G) c.2418T>G (n.2418T>G) c.4062T>G (p.Val1354=) n.333T>G c.2319T>G (p.Val773=) c.4071T>G (p.Val1357=)
2	g.165097282A>G	CA429880804	SCN3A	c.4158T>C (p.Val1386=) c.4209T>C (p.Val1403=) c.2050T>C (n.2050T>C) c.943T>C (n.943T>C) c.2418T>C (n.2418T>C) c.4062T>C (p.Val1354=) n.333T>C c.2319T>C (p.Val773=) c.4071T>C (p.Val1357=)
2	g.165097282A>T	CA429880803	SCN3A	c.4158T>A (p.Val1386=) c.4209T>A (p.Val1403=) c.2050T>A (n.2050T>A) c.943T>A (n.943T>A) c.2418T>A (n.2418T>A) c.4062T>A (p.Val1354=) n.333T>A c.2319T>A (p.Val773=) c.4071T>A (p.Val1357=)
2	g.165097283A>C	CA349024959	SCN3A	c.4157T>G (p.Val1386Gly) c.4208T>G (p.Val1403Gly) c.2049T>G (n.2049T>G) c.942T>G (n.942T>G) c.2417T>G (n.2417T>G) c.4061T>G (p.Val1354Gly) n.332T>G c.2318T>G (p.Val773Gly) c.4070T>G (p.Val1357Gly)
2	g.165097283A>G	CA349024963	SCN3A	c.4157T>C (p.Val1386Ala) c.4208T>C (p.Val1403Ala) c.2049T>C (n.2049T>C) c.942T>C (n.942T>C) c.2417T>C (n.2417T>C) c.4061T>C (p.Val1354Ala) n.332T>C c.2318T>C (p.Val773Ala) c.4070T>C (p.Val1357Ala)
2	g.165097283A>T	CA349024965	SCN3A	c.4157T>A (p.Val1386Asp) c.4208T>A (p.Val1403Asp) c.2049T>A (n.2049T>A) c.942T>A (n.942T>A) c.2417T>A (n.2417T>A) c.4061T>A (p.Val1354Asp) n.332T>A c.2318T>A (p.Val773Asp) c.4070T>A (p.Val1357Asp)
2	g.165097284C>A	CA349024971	SCN3A	c.4156G>T (p.Val1386Phe) c.4207G>T (p.Val1403Phe) c.2048G>T (n.2048G>T) c.941G>T (n.941G>T) c.2416G>T (n.2416G>T) c.4060G>T (p.Val1354Phe) n.331G>T c.2317G>T (p.Val773Phe) c.4069G>T (p.Val1357Phe)
2	g.165097284C=	CA1304438416	SCN3A	c.4156G= (p.Val1386=) c.4207G= (p.Val1403=) c.2048G= (n.2048G=) c.941G= (n.941G=) c.2416G= (n.2416G=) c.4060G= (p.Val1354=) n.331G= c.2317G= (p.Val773=) c.4069G= (p.Val1357=)
2	g.165097284C>G	CA349024976	SCN3A	c.4156G>C (p.Val1386Leu) c.4207G>C (p.Val1403Leu) c.2048G>C (n.2048G>C) c.941G>C (n.941G>C) c.2416G>C (n.2416G>C) c.4060G>C (p.Val1354Leu) n.331G>C c.2317G>C (p.Val773Leu) c.4069G>C (p.Val1357Leu)
2	g.165097284C>T	CA59712651	SCN3A	c.4156G>A (p.Val1386Ile) c.4207G>A (p.Val1403Ile) c.2048G>A (n.2048G>A) c.941G>A (n.941G>A) c.2416G>A (n.2416G>A) c.4060G>A (p.Val1354Ile) n.331G>A c.2317G>A (p.Val773Ile) c.4069G>A (p.Val1357Ile)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.165097285A>C	CA349024980	SCN3A	c.4155T>G (p.Asn1385Lys) c.4206T>G (p.Asn1402Lys) c.2047T>G (n.2047T>G) c.940T>G (n.940T>G) c.2415T>G (n.2415T>G) c.4059T>G (p.Asn1353Lys) n.330T>G c.2316T>G (p.Asn772Lys) c.4068T>G (p.Asn1356Lys)
2	g.165097285A>G	CA429880806	SCN3A	c.4155T>C (p.Asn1385=) c.4206T>C (p.Asn1402=) c.2047T>C (n.2047T>C) c.940T>C (n.940T>C) c.2415T>C (n.2415T>C) c.4059T>C (p.Asn1353=) n.330T>C c.2316T>C (p.Asn772=) c.4068T>C (p.Asn1356=)
2	g.165097285A>T	CA349024984	SCN3A	c.4155T>A (p.Asn1385Lys) c.4206T>A (p.Asn1402Lys) c.2047T>A (n.2047T>A) c.940T>A (n.940T>A) c.2415T>A (n.2415T>A) c.4059T>A (p.Asn1353Lys) n.330T>A c.2316T>A (p.Asn772Lys) c.4068T>A (p.Asn1356Lys)
2	g.165097286T>A	CA349024985	SCN3A	c.4154A>T (p.Asn1385Ile) c.4205A>T (p.Asn1402Ile) c.2046A>T (n.2046A>T) c.939A>T (n.939A>T) c.2414A>T (n.2414A>T) c.4058A>T (p.Asn1353Ile) n.329A>T c.2315A>T (p.Asn772Ile) c.4067A>T (p.Asn1356Ile)
2	g.165097286T>C	CA349024986	SCN3A	c.4154A>G (p.Asn1385Ser) c.4205A>G (p.Asn1402Ser) c.2046A>G (n.2046A>G) c.939A>G (n.939A>G) c.2414A>G (n.2414A>G) c.4058A>G (p.Asn1353Ser) n.329A>G c.2315A>G (p.Asn772Ser) c.4067A>G (p.Asn1356Ser)
2	g.165097286T>G	CA349024990	SCN3A	c.4154A>C (p.Asn1385Thr) c.4205A>C (p.Asn1402Thr) c.2046A>C (n.2046A>C) c.939A>C (n.939A>C) c.2414A>C (n.2414A>C) c.4058A>C (p.Asn1353Thr) n.329A>C c.2315A>C (p.Asn772Thr) c.4067A>C (p.Asn1356Thr)
2	g.165097287T>A	CA349024998	SCN3A	c.4153A>T (p.Asn1385Tyr) c.4204A>T (p.Asn1402Tyr) c.2045A>T (n.2045A>T) c.938A>T (n.938A>T) c.2413A>T (n.2413A>T) c.4057A>T (p.Asn1353Tyr) n.328A>T c.2314A>T (p.Asn772Tyr) c.4066A>T (p.Asn1356Tyr)
2	g.165097287T>C	CA349025007	SCN3A	c.4153A>G (p.Asn1385Asp) c.4204A>G (p.Asn1402Asp) c.2045A>G (n.2045A>G) c.938A>G (n.938A>G) c.2413A>G (n.2413A>G) c.4057A>G (p.Asn1353Asp) n.328A>G c.2314A>G (p.Asn772Asp) c.4066A>G (p.Asn1356Asp)	ClinVar dbSNP
2	g.165097287T>G	CA349025014	SCN3A	c.4153A>C (p.Asn1385His) c.4204A>C (p.Asn1402His) c.2045A>C (n.2045A>C) c.938A>C (n.938A>C) c.2413A>C (n.2413A>C) c.4057A>C (p.Asn1353His) n.328A>C c.2314A>C (p.Asn772His) c.4066A>C (p.Asn1356His)
2	g.165097287T=	CA1304438417	SCN3A	c.4153A= (p.Asn1385=) c.4204A= (p.Asn1402=) c.2045A= (n.2045A=) c.938A= (n.938A=) c.2413A= (n.2413A=) c.4057A= (p.Asn1353=) n.328A= c.2314A= (p.Asn772=) c.4066A= (p.Asn1356=)
2	g.165097288A>C	CA349025019	SCN3A	c.4152T>G (p.Asp1384Glu) c.4203T>G (p.Asp1401Glu) c.2044T>G (n.2044T>G) c.937T>G (n.937T>G) c.2412T>G (n.2412T>G) c.4056T>G (p.Asp1352Glu) n.327T>G c.2313T>G (p.Asp771Glu) c.4065T>G (p.Asp1355Glu)
2	g.165097288A>G	CA429880807	SCN3A	c.4152T>C (p.Asp1384=) c.4203T>C (p.Asp1401=) c.2044T>C (n.2044T>C) c.937T>C (n.937T>C) c.2412T>C (n.2412T>C) c.4056T>C (p.Asp1352=) n.327T>C c.2313T>C (p.Asp771=) c.4065T>C (p.Asp1355=)	gnomAD v4
2	g.165097288A>T	CA349025026	SCN3A	c.4152T>A (p.Asp1384Glu) c.4203T>A (p.Asp1401Glu) c.2044T>A (n.2044T>A) c.937T>A (n.937T>A) c.2412T>A (n.2412T>A) c.4056T>A (p.Asp1352Glu) n.327T>A c.2313T>A (p.Asp771Glu) c.4065T>A (p.Asp1355Glu)
2	g.165097289T>A	CA349025027	SCN3A	c.4151A>T (p.Asp1384Val) c.4202A>T (p.Asp1401Val) c.2043A>T (n.2043A>T) c.936A>T (n.936A>T) c.2411A>T (n.2411A>T) c.4055A>T (p.Asp1352Val) n.326A>T c.2312A>T (p.Asp771Val) c.4064A>T (p.Asp1355Val)
2	g.165097289T>C	CA349025029	SCN3A	c.4151A>G (p.Asp1384Gly) c.4202A>G (p.Asp1401Gly) c.2043A>G (n.2043A>G) c.936A>G (n.936A>G) c.2411A>G (n.2411A>G) c.4055A>G (p.Asp1352Gly) n.326A>G c.2312A>G (p.Asp771Gly) c.4064A>G (p.Asp1355Gly)
2	g.165097289T>G	CA349025032	SCN3A	c.4151A>C (p.Asp1384Ala) c.4202A>C (p.Asp1401Ala) c.2043A>C (n.2043A>C) c.936A>C (n.936A>C) c.2411A>C (n.2411A>C) c.4055A>C (p.Asp1352Ala) n.326A>C c.2312A>C (p.Asp771Ala) c.4064A>C (p.Asp1355Ala)
2	g.165097290C>A	CA349025040	SCN3A	c.4150G>T (p.Asp1384Tyr) c.4201G>T (p.Asp1401Tyr) c.2042G>T (n.2042G>T) c.935G>T (n.935G>T) c.2410G>T (n.2410G>T) c.4054G>T (p.Asp1352Tyr) n.325G>T c.2311G>T (p.Asp771Tyr) c.4063G>T (p.Asp1355Tyr)
2	g.165097290C=	CA1304438418	SCN3A	c.4150G= (p.Asp1384=) c.4201G= (p.Asp1401=) c.2042G= (n.2042G=) c.935G= (n.935G=) c.2410G= (n.2410G=) c.4054G= (p.Asp1352=) n.325G= c.2311G= (p.Asp771=) c.4063G= (p.Asp1355=)
2	g.165097290C>G	CA349025045	SCN3A	c.4150G>C (p.Asp1384His) c.4201G>C (p.Asp1401His) c.2042G>C (n.2042G>C) c.935G>C (n.935G>C) c.2410G>C (n.2410G>C) c.4054G>C (p.Asp1352His) n.325G>C c.2311G>C (p.Asp771His) c.4063G>C (p.Asp1355His)	dbSNP gnomAD v3 gnomAD v4
2	g.165097290C>T	CA349025051	SCN3A	c.4150G>A (p.Asp1384Asn) c.4201G>A (p.Asp1401Asn) c.2042G>A (n.2042G>A) c.935G>A (n.935G>A) c.2410G>A (n.2410G>A) c.4054G>A (p.Asp1352Asn) n.325G>A c.2311G>A (p.Asp771Asn) c.4063G>A (p.Asp1355Asn)	ClinVar COSMIC
2	g.165097291A>C	CA349025056	SCN3A	c.4149T>G (p.Phe1383Leu) c.4200T>G (p.Phe1400Leu) c.2041T>G (n.2041T>G) c.934T>G (n.934T>G) c.2409T>G (n.2409T>G) c.4053T>G (p.Phe1351Leu) n.324T>G c.2310T>G (p.Phe770Leu) c.4062T>G (p.Phe1354Leu)
2	g.165097291A>G	CA429880808	SCN3A	c.4149T>C (p.Phe1383=) c.4200T>C (p.Phe1400=) c.2041T>C (n.2041T>C) c.934T>C (n.934T>C) c.2409T>C (n.2409T>C) c.4053T>C (p.Phe1351=) n.324T>C c.2310T>C (p.Phe770=) c.4062T>C (p.Phe1354=)
2	g.165097291A>T	CA349025057	SCN3A	c.4149T>A (p.Phe1383Leu) c.4200T>A (p.Phe1400Leu) c.2041T>A (n.2041T>A) c.934T>A (n.934T>A) c.2409T>A (n.2409T>A) c.4053T>A (p.Phe1351Leu) n.324T>A c.2310T>A (p.Phe770Leu) c.4062T>A (p.Phe1354Leu)
2	g.165097292A>C	CA349025058	SCN3A	c.4148T>G (p.Phe1383Cys) c.4199T>G (p.Phe1400Cys) c.2040T>G (n.2040T>G) c.933T>G (n.933T>G) c.2408T>G (n.2408T>G) c.4052T>G (p.Phe1351Cys) n.323T>G c.2309T>G (p.Phe770Cys) c.4061T>G (p.Phe1354Cys)
2	g.165097292A>G	CA349025060	SCN3A	c.4148T>C (p.Phe1383Ser) c.4199T>C (p.Phe1400Ser) c.2040T>C (n.2040T>C) c.933T>C (n.933T>C) c.2408T>C (n.2408T>C) c.4052T>C (p.Phe1351Ser) n.323T>C c.2309T>C (p.Phe770Ser) c.4061T>C (p.Phe1354Ser)
2	g.165097292A>T	CA349025063	SCN3A	c.4148T>A (p.Phe1383Tyr) c.4199T>A (p.Phe1400Tyr) c.2040T>A (n.2040T>A) c.933T>A (n.933T>A) c.2408T>A (n.2408T>A) c.4052T>A (p.Phe1351Tyr) n.323T>A c.2309T>A (p.Phe770Tyr) c.4061T>A (p.Phe1354Tyr)
2	g.165097293A>C	CA349025064	SCN3A	c.4147T>G (p.Phe1383Val) c.4198T>G (p.Phe1400Val) c.2039T>G (n.2039T>G) c.932T>G (n.932T>G) c.2407T>G (n.2407T>G) c.4051T>G (p.Phe1351Val) n.322T>G c.2308T>G (p.Phe770Val) c.4060T>G (p.Phe1354Val)
2	g.165097293A>G	CA349025065	SCN3A	c.4147T>C (p.Phe1383Leu) c.4198T>C (p.Phe1400Leu) c.2039T>C (n.2039T>C) c.932T>C (n.932T>C) c.2407T>C (n.2407T>C) c.4051T>C (p.Phe1351Leu) n.322T>C c.2308T>C (p.Phe770Leu) c.4060T>C (p.Phe1354Leu)
2	g.165097293A>T	CA349025068	SCN3A	c.4147T>A (p.Phe1383Ile) c.4198T>A (p.Phe1400Ile) c.2039T>A (n.2039T>A) c.932T>A (n.932T>A) c.2407T>A (n.2407T>A) c.4051T>A (p.Phe1351Ile) n.322T>A c.2308T>A (p.Phe770Ile) c.4060T>A (p.Phe1354Ile)
2	g.165097294G>A	CA429880809	SCN3A	c.4146C>T (p.Asn1382=) c.4197C>T (p.Asn1399=) c.2038C>T (n.2038C>T) c.931C>T (n.931C>T) c.2406C>T (n.2406C>T) c.4050C>T (p.Asn1350=) n.321C>T c.2307C>T (p.Asn769=) c.4059C>T (p.Asn1353=)	dbSNP
2	g.165097294G>C	CA349025072	SCN3A	c.4146C>G (p.Asn1382Lys) c.4197C>G (p.Asn1399Lys) c.2038C>G (n.2038C>G) c.931C>G (n.931C>G) c.2406C>G (n.2406C>G) c.4050C>G (p.Asn1350Lys) n.321C>G c.2307C>G (p.Asn769Lys) c.4059C>G (p.Asn1353Lys)
2	g.165097294G=	CA1304438419	SCN3A	c.4146C= (p.Asn1382=) c.4197C= (p.Asn1399=) c.2038C= (n.2038C=) c.931C= (n.931C=) c.2406C= (n.2406C=) c.4050C= (p.Asn1350=) n.321C= c.2307C= (p.Asn769=) c.4059C= (p.Asn1353=)
2	g.165097294G>T	CA349025075	SCN3A	c.4146C>A (p.Asn1382Lys) c.4197C>A (p.Asn1399Lys) c.2038C>A (n.2038C>A) c.931C>A (n.931C>A) c.2406C>A (n.2406C>A) c.4050C>A (p.Asn1350Lys) n.321C>A c.2307C>A (p.Asn769Lys) c.4059C>A (p.Asn1353Lys)
2	g.165097295T>A	CA349025097	SCN3A	c.4145A>T (p.Asn1382Ile) c.4196A>T (p.Asn1399Ile) c.2037A>T (n.2037A>T) c.930A>T (n.930A>T) c.2405A>T (n.2405A>T) c.4049A>T (p.Asn1350Ile) n.320A>T c.2306A>T (p.Asn769Ile) c.4058A>T (p.Asn1353Ile)
2	g.165097295T>C	CA349025098	SCN3A	c.4145A>G (p.Asn1382Ser) c.4196A>G (p.Asn1399Ser) c.2037A>G (n.2037A>G) c.930A>G (n.930A>G) c.2405A>G (n.2405A>G) c.4049A>G (p.Asn1350Ser) n.320A>G c.2306A>G (p.Asn769Ser) c.4058A>G (p.Asn1353Ser)
2	g.165097295T>G	CA349025099	SCN3A	c.4145A>C (p.Asn1382Thr) c.4196A>C (p.Asn1399Thr) c.2037A>C (n.2037A>C) c.930A>C (n.930A>C) c.2405A>C (n.2405A>C) c.4049A>C (p.Asn1350Thr) n.320A>C c.2306A>C (p.Asn769Thr) c.4058A>C (p.Asn1353Thr)
2	g.165097296T>A	CA349025105	SCN3A	c.4144A>T (p.Asn1382Tyr) c.4195A>T (p.Asn1399Tyr) c.2036A>T (n.2036A>T) c.929A>T (n.929A>T) c.2404A>T (n.2404A>T) c.4048A>T (p.Asn1350Tyr) n.319A>T c.2305A>T (p.Asn769Tyr) c.4057A>T (p.Asn1353Tyr)
2	g.165097296T>C	CA349025102	SCN3A	c.4144A>G (p.Asn1382Asp) c.4195A>G (p.Asn1399Asp) c.2036A>G (n.2036A>G) c.929A>G (n.929A>G) c.2404A>G (n.2404A>G) c.4048A>G (p.Asn1350Asp) n.319A>G c.2305A>G (p.Asn769Asp) c.4057A>G (p.Asn1353Asp)
2	g.165097296T>G	CA349025100	SCN3A	c.4144A>C (p.Asn1382His) c.4195A>C (p.Asn1399His) c.2036A>C (n.2036A>C) c.929A>C (n.929A>C) c.2404A>C (n.2404A>C) c.4048A>C (p.Asn1350His) n.319A>C c.2305A>C (p.Asn769His) c.4057A>C (p.Asn1353His)
2	g.165097297T>A	CA429880810	SCN3A	c.4143A>T (p.Val1381=) c.4194A>T (p.Val1398=) c.2035A>T (n.2035A>T) c.928A>T (n.928A>T) c.2403A>T (n.2403A>T) c.4047A>T (p.Val1349=) n.318A>T c.2304A>T (p.Val768=) c.4056A>T (p.Val1352=)

Number of alleles fetched