Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166228698A>CCA349063180SCN1A-AS1,SCN9Ac.4199T>G (p.Leu1400Arg)
c.4043T>G (p.Leu1348Arg)
c.4166T>G (p.Leu1389Arg)
n.612-19497A>C
c.3812T>G (p.Leu1271Arg)
c.3455T>G (p.Leu1152Arg)
2g.166228698A>GCA349063184SCN1A-AS1,SCN9Ac.4199T>C (p.Leu1400Pro)
c.4043T>C (p.Leu1348Pro)
c.4166T>C (p.Leu1389Pro)
n.612-19497A>G
c.3812T>C (p.Leu1271Pro)
c.3455T>C (p.Leu1152Pro)
2g.166228698A>TCA349063182SCN1A-AS1,SCN9Ac.4199T>A (p.Leu1400His)
c.4043T>A (p.Leu1348His)
c.4166T>A (p.Leu1389His)
n.612-19497A>T
c.3812T>A (p.Leu1271His)
c.3455T>A (p.Leu1152His)
2g.166228699G>ACA349063186SCN1A-AS1,SCN9Ac.4198C>T (p.Leu1400Phe)
c.4042C>T (p.Leu1348Phe)
c.4165C>T (p.Leu1389Phe)
n.612-19496G>A
c.3811C>T (p.Leu1271Phe)
c.3454C>T (p.Leu1152Phe)
2g.166228699G>CCA349063188SCN1A-AS1,SCN9Ac.4198C>G (p.Leu1400Val)
c.4042C>G (p.Leu1348Val)
c.4165C>G (p.Leu1389Val)
n.612-19496G>C
c.3811C>G (p.Leu1271Val)
c.3454C>G (p.Leu1152Val)
2g.166228699G>TCA349063190SCN1A-AS1,SCN9Ac.4198C>A (p.Leu1400Ile)
c.4042C>A (p.Leu1348Ile)
c.4165C>A (p.Leu1389Ile)
n.612-19496G>T
c.3811C>A (p.Leu1271Ile)
c.3454C>A (p.Leu1152Ile)
 ClinVar dbSNP
2g.166228700C>ACA429899056SCN1A-AS1,SCN9Ac.4197G>T (p.Leu1399=)
c.4041G>T (p.Leu1347=)
c.4164G>T (p.Leu1388=)
n.612-19495C>A
c.3810G>T (p.Leu1270=)
c.3453G>T (p.Leu1151=)
2g.166228700C=CA1304943598SCN1A-AS1,SCN9Ac.4197G= (p.Leu1399=)
c.4041G= (p.Leu1347=)
c.4164G= (p.Leu1388=)
n.612-19495C=
c.3810G= (p.Leu1270=)
c.3453G= (p.Leu1151=)
2g.166228700C>GCA429899057SCN1A-AS1,SCN9Ac.4197G>C (p.Leu1399=)
c.4041G>C (p.Leu1347=)
c.4164G>C (p.Leu1388=)
n.612-19495C>G
c.3810G>C (p.Leu1270=)
c.3453G>C (p.Leu1151=)
2g.166228700C>TCA1943934SCN1A-AS1,SCN9Ac.4197G>A (p.Leu1399=)
c.4041G>A (p.Leu1347=)
c.4164G>A (p.Leu1388=)
n.612-19495C>T
c.3810G>A (p.Leu1270=)
c.3453G>A (p.Leu1151=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228701A>CCA349063196SCN1A-AS1,SCN9Ac.4196T>G (p.Leu1399Arg)
c.4040T>G (p.Leu1347Arg)
c.4163T>G (p.Leu1388Arg)
n.612-19494A>C
c.3809T>G (p.Leu1270Arg)
c.3452T>G (p.Leu1151Arg)
2g.166228701A>GCA349063200SCN1A-AS1,SCN9Ac.4196T>C (p.Leu1399Pro)
c.4040T>C (p.Leu1347Pro)
c.4163T>C (p.Leu1388Pro)
n.612-19494A>G
c.3809T>C (p.Leu1270Pro)
c.3452T>C (p.Leu1151Pro)
2g.166228701A>TCA349063198SCN1A-AS1,SCN9Ac.4196T>A (p.Leu1399Gln)
c.4040T>A (p.Leu1347Gln)
c.4163T>A (p.Leu1388Gln)
n.612-19494A>T
c.3809T>A (p.Leu1270Gln)
c.3452T>A (p.Leu1151Gln)
2g.166228704_166228705delCA2580614392SCN1A-AS1,SCN9Ac.4195_4196del (p.Leu1399AlafsTer7)
c.4039_4040del (p.Leu1347AlafsTer7)
c.4162_4163del (p.Leu1388AlafsTer7)
n.612-19491_612-19490del
c.3808_3809del (p.Leu1270AlafsTer7)
c.3451_3452del (p.Leu1151AlafsTer7)
 ClinVar dbSNP
2g.166228702G>ACA429899058SCN1A-AS1,SCN9Ac.4195C>T (p.Leu1399=)
c.4039C>T (p.Leu1347=)
c.4162C>T (p.Leu1388=)
n.612-19493G>A
c.3808C>T (p.Leu1270=)
c.3451C>T (p.Leu1151=)
2g.166228702G>CCA349063202SCN1A-AS1,SCN9Ac.4195C>G (p.Leu1399Val)
c.4039C>G (p.Leu1347Val)
c.4162C>G (p.Leu1388Val)
n.612-19493G>C
c.3808C>G (p.Leu1270Val)
c.3451C>G (p.Leu1151Val)
 dbSNP COSMIC
2g.166228702G=CA1304943599SCN1A-AS1,SCN9Ac.4195C= (p.Leu1399=)
c.4039C= (p.Leu1347=)
c.4162C= (p.Leu1388=)
n.612-19493G=
c.3808C= (p.Leu1270=)
c.3451C= (p.Leu1151=)
2g.166228702G>TCA349063204SCN1A-AS1,SCN9Ac.4195C>A (p.Leu1399Met)
c.4039C>A (p.Leu1347Met)
c.4162C>A (p.Leu1388Met)
n.612-19493G>T
c.3808C>A (p.Leu1270Met)
c.3451C>A (p.Leu1151Met)
2g.166228703A>CCA429899062SCN1A-AS1,SCN9Ac.4194T>G (p.Ser1398=)
c.4038T>G (p.Ser1346=)
c.4161T>G (p.Ser1387=)
n.612-19492A>C
c.3807T>G (p.Ser1269=)
c.3450T>G (p.Ser1150=)
2g.166228703A>GCA429899063SCN1A-AS1,SCN9Ac.4194T>C (p.Ser1398=)
c.4038T>C (p.Ser1346=)
c.4161T>C (p.Ser1387=)
n.612-19492A>G
c.3807T>C (p.Ser1269=)
c.3450T>C (p.Ser1150=)
2g.166228703A>TCA429899064SCN1A-AS1,SCN9Ac.4194T>A (p.Ser1398=)
c.4038T>A (p.Ser1346=)
c.4161T>A (p.Ser1387=)
n.612-19492A>T
c.3807T>A (p.Ser1269=)
c.3450T>A (p.Ser1150=)
2g.166228704G>ACA349063206SCN1A-AS1,SCN9Ac.4193C>T (p.Ser1398Phe)
c.4037C>T (p.Ser1346Phe)
c.4160C>T (p.Ser1387Phe)
n.612-19491G>A
c.3806C>T (p.Ser1269Phe)
c.3449C>T (p.Ser1150Phe)
2g.166228704G>CCA349063208SCN1A-AS1,SCN9Ac.4193C>G (p.Ser1398Cys)
c.4037C>G (p.Ser1346Cys)
c.4160C>G (p.Ser1387Cys)
n.612-19491G>C
c.3806C>G (p.Ser1269Cys)
c.3449C>G (p.Ser1150Cys)
2g.166228704G>TCA349063210SCN1A-AS1,SCN9Ac.4193C>A (p.Ser1398Tyr)
c.4037C>A (p.Ser1346Tyr)
c.4160C>A (p.Ser1387Tyr)
n.612-19491G>T
c.3806C>A (p.Ser1269Tyr)
c.3449C>A (p.Ser1150Tyr)
2g.166228705A=CA1304943600SCN1A-AS1,SCN9Ac.4192T= (p.Ser1398=)
c.4036T= (p.Ser1346=)
c.4159T= (p.Ser1387=)
n.612-19490A=
c.3805T= (p.Ser1269=)
c.3448T= (p.Ser1150=)
2g.166228705A>CCA349063212SCN1A-AS1,SCN9Ac.4192T>G (p.Ser1398Ala)
c.4036T>G (p.Ser1346Ala)
c.4159T>G (p.Ser1387Ala)
n.612-19490A>C
c.3805T>G (p.Ser1269Ala)
c.3448T>G (p.Ser1150Ala)
2g.166228705A>GCA349063214SCN1A-AS1,SCN9Ac.4192T>C (p.Ser1398Pro)
c.4036T>C (p.Ser1346Pro)
c.4159T>C (p.Ser1387Pro)
n.612-19490A>G
c.3805T>C (p.Ser1269Pro)
c.3448T>C (p.Ser1150Pro)
2g.166228705A>TCA349063216SCN1A-AS1,SCN9Ac.4192T>A (p.Ser1398Thr)
c.4036T>A (p.Ser1346Thr)
c.4159T>A (p.Ser1387Thr)
n.612-19490A>T
c.3805T>A (p.Ser1269Thr)
c.3448T>A (p.Ser1150Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.166228706T>ACA429899070SCN1A-AS1,SCN9Ac.4191A>T (p.Leu1397=)
c.4035A>T (p.Leu1345=)
c.4158A>T (p.Leu1386=)
n.612-19489T>A
c.3804A>T (p.Leu1268=)
c.3447A>T (p.Leu1149=)
2g.166228706T>CCA429899071SCN1A-AS1,SCN9Ac.4191A>G (p.Leu1397=)
c.4035A>G (p.Leu1345=)
c.4158A>G (p.Leu1386=)
n.612-19489T>C
c.3804A>G (p.Leu1268=)
c.3447A>G (p.Leu1149=)
2g.166228706T>GCA429899072SCN1A-AS1,SCN9Ac.4191A>C (p.Leu1397=)
c.4035A>C (p.Leu1345=)
c.4158A>C (p.Leu1386=)
n.612-19489T>G
c.3804A>C (p.Leu1268=)
c.3447A>C (p.Leu1149=)
2g.166228707A=CA1304943601SCN1A-AS1,SCN9Ac.4190T= (p.Leu1397=)
c.4034T= (p.Leu1345=)
c.4157T= (p.Leu1386=)
n.612-19488A=
c.3803T= (p.Leu1268=)
c.3446T= (p.Leu1149=)
2g.166228707A>CCA349063218SCN1A-AS1,SCN9Ac.4190T>G (p.Leu1397Arg)
c.4034T>G (p.Leu1345Arg)
c.4157T>G (p.Leu1386Arg)
n.612-19488A>C
c.3803T>G (p.Leu1268Arg)
c.3446T>G (p.Leu1149Arg)
2g.166228707A>GCA349063220SCN1A-AS1,SCN9Ac.4190T>C (p.Leu1397Pro)
c.4034T>C (p.Leu1345Pro)
c.4157T>C (p.Leu1386Pro)
n.612-19488A>G
c.3803T>C (p.Leu1268Pro)
c.3446T>C (p.Leu1149Pro)
 ClinVar dbSNP
2g.166228707A>TCA349063222SCN1A-AS1,SCN9Ac.4190T>A (p.Leu1397Gln)
c.4034T>A (p.Leu1345Gln)
c.4157T>A (p.Leu1386Gln)
n.612-19488A>T
c.3803T>A (p.Leu1268Gln)
c.3446T>A (p.Leu1149Gln)
2g.166228708G>ACA429899074SCN1A-AS1,SCN9Ac.4189C>T (p.Leu1397=)
c.4033C>T (p.Leu1345=)
c.4156C>T (p.Leu1386=)
n.612-19487G>A
c.3802C>T (p.Leu1268=)
c.3445C>T (p.Leu1149=)
 dbSNP gnomAD v4
2g.166228708G>CCA349063226SCN1A-AS1,SCN9Ac.4189C>G (p.Leu1397Val)
c.4033C>G (p.Leu1345Val)
c.4156C>G (p.Leu1386Val)
n.612-19487G>C
c.3802C>G (p.Leu1268Val)
c.3445C>G (p.Leu1149Val)
2g.166228708G=CA1304943602SCN1A-AS1,SCN9Ac.4189C= (p.Leu1397=)
c.4033C= (p.Leu1345=)
c.4156C= (p.Leu1386=)
n.612-19487G=
c.3802C= (p.Leu1268=)
c.3445C= (p.Leu1149=)
2g.166228708G>TCA59810203SCN1A-AS1,SCN9Ac.4189C>A (p.Leu1397Ile)
c.4033C>A (p.Leu1345Ile)
c.4156C>A (p.Leu1386Ile)
n.612-19487G>T
c.3802C>A (p.Leu1268Ile)
c.3445C>A (p.Leu1149Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166228709G>ACA429899077SCN1A-AS1,SCN9Ac.4188C>T (p.Tyr1396=)
c.4032C>T (p.Tyr1344=)
c.4155C>T (p.Tyr1385=)
n.612-19486G>A
c.3801C>T (p.Tyr1267=)
c.3444C>T (p.Tyr1148=)
2g.166228709G>CCA349063229SCN1A-AS1,SCN9Ac.4188C>G (p.Tyr1396Ter)
c.4032C>G (p.Tyr1344Ter)
c.4155C>G (p.Tyr1385Ter)
n.612-19486G>C
c.3801C>G (p.Tyr1267Ter)
c.3444C>G (p.Tyr1148Ter)
2g.166228709G>TCA349063231SCN1A-AS1,SCN9Ac.4188C>A (p.Tyr1396Ter)
c.4032C>A (p.Tyr1344Ter)
c.4155C>A (p.Tyr1385Ter)
n.612-19486G>T
c.3801C>A (p.Tyr1267Ter)
c.3444C>A (p.Tyr1148Ter)
2g.166228710T>ACA349063234SCN1A-AS1,SCN9Ac.4187A>T (p.Tyr1396Phe)
c.4031A>T (p.Tyr1344Phe)
c.4154A>T (p.Tyr1385Phe)
n.612-19485T>A
c.3800A>T (p.Tyr1267Phe)
c.3443A>T (p.Tyr1148Phe)
2g.166228710T>CCA349063235SCN1A-AS1,SCN9Ac.4187A>G (p.Tyr1396Cys)
c.4031A>G (p.Tyr1344Cys)
c.4154A>G (p.Tyr1385Cys)
n.612-19485T>C
c.3800A>G (p.Tyr1267Cys)
c.3443A>G (p.Tyr1148Cys)
2g.166228710T>GCA349063237SCN1A-AS1,SCN9Ac.4187A>C (p.Tyr1396Ser)
c.4031A>C (p.Tyr1344Ser)
c.4154A>C (p.Tyr1385Ser)
n.612-19485T>G
c.3800A>C (p.Tyr1267Ser)
c.3443A>C (p.Tyr1148Ser)
2g.166228711A>CCA349063239SCN1A-AS1,SCN9Ac.4186T>G (p.Tyr1396Asp)
c.4030T>G (p.Tyr1344Asp)
c.4153T>G (p.Tyr1385Asp)
n.612-19484A>C
c.3799T>G (p.Tyr1267Asp)
c.3442T>G (p.Tyr1148Asp)
2g.166228711A>GCA349063241SCN1A-AS1,SCN9Ac.4186T>C (p.Tyr1396His)
c.4030T>C (p.Tyr1344His)
c.4153T>C (p.Tyr1385His)
n.612-19484A>G
c.3799T>C (p.Tyr1267His)
c.3442T>C (p.Tyr1148His)
2g.166228711A>TCA349063243SCN1A-AS1,SCN9Ac.4186T>A (p.Tyr1396Asn)
c.4030T>A (p.Tyr1344Asn)
c.4153T>A (p.Tyr1385Asn)
n.612-19484A>T
c.3799T>A (p.Tyr1267Asn)
c.3442T>A (p.Tyr1148Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.166228712A>CCA429899079SCN1A-AS1,SCN9Ac.4185T>G (p.Gly1395=)
c.4029T>G (p.Gly1343=)
c.4152T>G (p.Gly1384=)
n.612-19483A>C
c.3798T>G (p.Gly1266=)
c.3441T>G (p.Gly1147=)
2g.166228712A>GCA429899081SCN1A-AS1,SCN9Ac.4185T>C (p.Gly1395=)
c.4029T>C (p.Gly1343=)
c.4152T>C (p.Gly1384=)
n.612-19483A>G
c.3798T>C (p.Gly1266=)
c.3441T>C (p.Gly1147=)
2g.166228712A>TCA429899080SCN1A-AS1,SCN9Ac.4185T>A (p.Gly1395=)
c.4029T>A (p.Gly1343=)
c.4152T>A (p.Gly1384=)
n.612-19483A>T
c.3798T>A (p.Gly1266=)
c.3441T>A (p.Gly1147=)
2g.166228713C>ACA349063245SCN1A-AS1,SCN9Ac.4184G>T (p.Gly1395Val)
c.4028G>T (p.Gly1343Val)
c.4151G>T (p.Gly1384Val)
n.612-19482C>A
c.3797G>T (p.Gly1266Val)
c.3440G>T (p.Gly1147Val)
 ClinVar dbSNP gnomAD v4
2g.166228713C=CA1304943603SCN1A-AS1,SCN9Ac.4184G= (p.Gly1395=)
c.4028G= (p.Gly1343=)
c.4151G= (p.Gly1384=)
n.612-19482C=
c.3797G= (p.Gly1266=)
c.3440G= (p.Gly1147=)
2g.166228713C>GCA349063248SCN1A-AS1,SCN9Ac.4184G>C (p.Gly1395Ala)
c.4028G>C (p.Gly1343Ala)
c.4151G>C (p.Gly1384Ala)
n.612-19482C>G
c.3797G>C (p.Gly1266Ala)
c.3440G>C (p.Gly1147Ala)
 gnomAD v4
2g.166228713C>TCA1943935SCN1A-AS1,SCN9Ac.4184G>A (p.Gly1395Asp)
c.4028G>A (p.Gly1343Asp)
c.4151G>A (p.Gly1384Asp)
n.612-19482C>T
c.3797G>A (p.Gly1266Asp)
c.3440G>A (p.Gly1147Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166228714C>ACA349063252SCN1A-AS1,SCN9Ac.4183G>T (p.Gly1395Cys)
c.4027G>T (p.Gly1343Cys)
c.4150G>T (p.Gly1384Cys)
n.612-19481C>A
c.3796G>T (p.Gly1266Cys)
c.3439G>T (p.Gly1147Cys)
2g.166228714C>GCA349063257SCN1A-AS1,SCN9Ac.4183G>C (p.Gly1395Arg)
c.4027G>C (p.Gly1343Arg)
c.4150G>C (p.Gly1384Arg)
n.612-19481C>G
c.3796G>C (p.Gly1266Arg)
c.3439G>C (p.Gly1147Arg)
 ClinVar gnomAD v4
2g.166228714C>TCA349063259SCN1A-AS1,SCN9Ac.4183G>A (p.Gly1395Ser)
c.4027G>A (p.Gly1343Ser)
c.4150G>A (p.Gly1384Ser)
n.612-19481C>T
c.3796G>A (p.Gly1266Ser)
c.3439G>A (p.Gly1147Ser)
 gnomAD v4
2g.166228715A>CCA429899085SCN1A-AS1,SCN9Ac.4182T>G (p.Leu1394=)
c.4026T>G (p.Leu1342=)
c.4149T>G (p.Leu1383=)
n.612-19480A>C
c.3795T>G (p.Leu1265=)
c.3438T>G (p.Leu1146=)
2g.166228715A>GCA429899086SCN1A-AS1,SCN9Ac.4182T>C (p.Leu1394=)
c.4026T>C (p.Leu1342=)
c.4149T>C (p.Leu1383=)
n.612-19480A>G
c.3795T>C (p.Leu1265=)
c.3438T>C (p.Leu1146=)
2g.166228715A>TCA429899087SCN1A-AS1,SCN9Ac.4182T>A (p.Leu1394=)
c.4026T>A (p.Leu1342=)
c.4149T>A (p.Leu1383=)
n.612-19480A>T
c.3795T>A (p.Leu1265=)
c.3438T>A (p.Leu1146=)
2g.166228716A>CCA349063267SCN1A-AS1,SCN9Ac.4181T>G (p.Leu1394Arg)
c.4025T>G (p.Leu1342Arg)
c.4148T>G (p.Leu1383Arg)
n.612-19479A>C
c.3794T>G (p.Leu1265Arg)
c.3437T>G (p.Leu1146Arg)
2g.166228716A>GCA349063265SCN1A-AS1,SCN9Ac.4181T>C (p.Leu1394Pro)
c.4025T>C (p.Leu1342Pro)
c.4148T>C (p.Leu1383Pro)
n.612-19479A>G
c.3794T>C (p.Leu1265Pro)
c.3437T>C (p.Leu1146Pro)
2g.166228716A>TCA349063263SCN1A-AS1,SCN9Ac.4181T>A (p.Leu1394His)
c.4025T>A (p.Leu1342His)
c.4148T>A (p.Leu1383His)
n.612-19479A>T
c.3794T>A (p.Leu1265His)
c.3437T>A (p.Leu1146His)
 gnomAD v4
2g.166228717G>ACA349063269SCN1A-AS1,SCN9Ac.4180C>T (p.Leu1394Phe)
c.4024C>T (p.Leu1342Phe)
c.4147C>T (p.Leu1383Phe)
n.612-19478G>A
c.3793C>T (p.Leu1265Phe)
c.3436C>T (p.Leu1146Phe)
 dbSNP
2g.166228717G>CCA349063271SCN1A-AS1,SCN9Ac.4180C>G (p.Leu1394Val)
c.4024C>G (p.Leu1342Val)
c.4147C>G (p.Leu1383Val)
n.612-19478G>C
c.3793C>G (p.Leu1265Val)
c.3436C>G (p.Leu1146Val)
2g.166228717G=CA1304943604SCN1A-AS1,SCN9Ac.4180C= (p.Leu1394=)
c.4024C= (p.Leu1342=)
c.4147C= (p.Leu1383=)
n.612-19478G=
c.3793C= (p.Leu1265=)
c.3436C= (p.Leu1146=)
2g.166228717G>TCA349063273SCN1A-AS1,SCN9Ac.4180C>A (p.Leu1394Ile)
c.4024C>A (p.Leu1342Ile)
c.4147C>A (p.Leu1383Ile)
n.612-19478G>T
c.3793C>A (p.Leu1265Ile)
c.3436C>A (p.Leu1146Ile)
2g.166228718T>ACA429899089SCN1A-AS1,SCN9Ac.4179A>T (p.Gly1393=)
c.4023A>T (p.Gly1341=)
c.4146A>T (p.Gly1382=)
n.612-19477T>A
c.3792A>T (p.Gly1264=)
c.3435A>T (p.Gly1145=)
2g.166228718T>CCA429899090SCN1A-AS1,SCN9Ac.4179A>G (p.Gly1393=)
c.4023A>G (p.Gly1341=)
c.4146A>G (p.Gly1382=)
n.612-19477T>C
c.3792A>G (p.Gly1264=)
c.3435A>G (p.Gly1145=)
2g.166228718T>GCA429899091SCN1A-AS1,SCN9Ac.4179A>C (p.Gly1393=)
c.4023A>C (p.Gly1341=)
c.4146A>C (p.Gly1382=)
n.612-19477T>G
c.3792A>C (p.Gly1264=)
c.3435A>C (p.Gly1145=)
2g.166228719C>ACA349063277SCN1A-AS1,SCN9Ac.4178G>T (p.Gly1393Val)
c.4022G>T (p.Gly1341Val)
c.4145G>T (p.Gly1382Val)
n.612-19476C>A
c.3791G>T (p.Gly1264Val)
c.3434G>T (p.Gly1145Val)
 gnomAD v4
2g.166228719C>GCA349063278SCN1A-AS1,SCN9Ac.4178G>C (p.Gly1393Ala)
c.4022G>C (p.Gly1341Ala)
c.4145G>C (p.Gly1382Ala)
n.612-19476C>G
c.3791G>C (p.Gly1264Ala)
c.3434G>C (p.Gly1145Ala)
2g.166228719C>TCA349063281SCN1A-AS1,SCN9Ac.4178G>A (p.Gly1393Glu)
c.4022G>A (p.Gly1341Glu)
c.4145G>A (p.Gly1382Glu)
n.612-19476C>T
c.3791G>A (p.Gly1264Glu)
c.3434G>A (p.Gly1145Glu)
2g.166228720C>ACA349063283SCN1A-AS1,SCN9Ac.4177G>T (p.Gly1393Ter)
c.4021G>T (p.Gly1341Ter)
c.4144G>T (p.Gly1382Ter)
n.612-19475C>A
c.3790G>T (p.Gly1264Ter)
c.3433G>T (p.Gly1145Ter)
 dbSNP
2g.166228720C=CA1304943605SCN1A-AS1,SCN9Ac.4177G= (p.Gly1393=)
c.4021G= (p.Gly1341=)
c.4144G= (p.Gly1382=)
n.612-19475C=
c.3790G= (p.Gly1264=)
c.3433G= (p.Gly1145=)
2g.166228720C>GCA349063285SCN1A-AS1,SCN9Ac.4177G>C (p.Gly1393Arg)
c.4021G>C (p.Gly1341Arg)
c.4144G>C (p.Gly1382Arg)
n.612-19475C>G
c.3790G>C (p.Gly1264Arg)
c.3433G>C (p.Gly1145Arg)
2g.166228720C>TCA1943936SCN1A-AS1,SCN9Ac.4177G>A (p.Gly1393Arg)
c.4021G>A (p.Gly1341Arg)
c.4144G>A (p.Gly1382Arg)
n.612-19475C>T
c.3790G>A (p.Gly1264Arg)
c.3433G>A (p.Gly1145Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228721G>ACA1943937SCN1A-AS1,SCN9Ac.4176C>T (p.Val1392=)
c.4020C>T (p.Val1340=)
c.4143C>T (p.Val1381=)
n.612-19474G>A
c.3789C>T (p.Val1263=)
c.3432C>T (p.Val1144=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166228721G>CCA429899093SCN1A-AS1,SCN9Ac.4176C>G (p.Val1392=)
c.4020C>G (p.Val1340=)
c.4143C>G (p.Val1381=)
n.612-19474G>C
c.3789C>G (p.Val1263=)
c.3432C>G (p.Val1144=)
2g.166228721G=CA1304943606SCN1A-AS1,SCN9Ac.4176C= (p.Val1392=)
c.4020C= (p.Val1340=)
c.4143C= (p.Val1381=)
n.612-19474G=
c.3789C= (p.Val1263=)
c.3432C= (p.Val1144=)
2g.166228721G>TCA429899095SCN1A-AS1,SCN9Ac.4176C>A (p.Val1392=)
c.4020C>A (p.Val1340=)
c.4143C>A (p.Val1381=)
n.612-19474G>T
c.3789C>A (p.Val1263=)
c.3432C>A (p.Val1144=)
 gnomAD v4
2g.166228722A>CCA349063290SCN1A-AS1,SCN9Ac.4175T>G (p.Val1392Gly)
c.4019T>G (p.Val1340Gly)
c.4142T>G (p.Val1381Gly)
n.612-19473A>C
c.3788T>G (p.Val1263Gly)
c.3431T>G (p.Val1144Gly)
2g.166228722A>GCA349063291SCN1A-AS1,SCN9Ac.4175T>C (p.Val1392Ala)
c.4019T>C (p.Val1340Ala)
c.4142T>C (p.Val1381Ala)
n.612-19473A>G
c.3788T>C (p.Val1263Ala)
c.3431T>C (p.Val1144Ala)
2g.166228722A>TCA349063294SCN1A-AS1,SCN9Ac.4175T>A (p.Val1392Asp)
c.4019T>A (p.Val1340Asp)
c.4142T>A (p.Val1381Asp)
n.612-19473A>T
c.3788T>A (p.Val1263Asp)
c.3431T>A (p.Val1144Asp)
2g.166228723C>ACA349063298SCN1A-AS1,SCN9Ac.4174G>T (p.Val1392Phe)
c.4018G>T (p.Val1340Phe)
c.4141G>T (p.Val1381Phe)
n.612-19472C>A
c.3787G>T (p.Val1263Phe)
c.3430G>T (p.Val1144Phe)
2g.166228723C=CA1304943607SCN1A-AS1,SCN9Ac.4174G= (p.Val1392=)
c.4018G= (p.Val1340=)
c.4141G= (p.Val1381=)
n.612-19472C=
c.3787G= (p.Val1263=)
c.3430G= (p.Val1144=)
2g.166228723C>GCA349063301SCN1A-AS1,SCN9Ac.4174G>C (p.Val1392Leu)
c.4018G>C (p.Val1340Leu)
c.4141G>C (p.Val1381Leu)
n.612-19472C>G
c.3787G>C (p.Val1263Leu)
c.3430G>C (p.Val1144Leu)
2g.166228723C>TCA349063296SCN1A-AS1,SCN9Ac.4174G>A (p.Val1392Ile)
c.4018G>A (p.Val1340Ile)
c.4141G>A (p.Val1381Ile)
n.612-19472C>T
c.3787G>A (p.Val1263Ile)
c.3430G>A (p.Val1144Ile)
 ClinVar dbSNP gnomAD v4
2g.166228724A=CA1304943608SCN1A-AS1,SCN9Ac.4173T= (p.Asn1391=)
c.4017T= (p.Asn1339=)
c.4140T= (p.Asn1380=)
n.612-19471A=
c.3786T= (p.Asn1262=)
c.3429T= (p.Asn1143=)
2g.166228724A>CCA349063303SCN1A-AS1,SCN9Ac.4173T>G (p.Asn1391Lys)
c.4017T>G (p.Asn1339Lys)
c.4140T>G (p.Asn1380Lys)
n.612-19471A>C
c.3786T>G (p.Asn1262Lys)
c.3429T>G (p.Asn1143Lys)
2g.166228724A>GCA59810222SCN1A-AS1,SCN9Ac.4173T>C (p.Asn1391=)
c.4017T>C (p.Asn1339=)
c.4140T>C (p.Asn1380=)
n.612-19471A>G
c.3786T>C (p.Asn1262=)
c.3429T>C (p.Asn1143=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166228724A>TCA349063305SCN1A-AS1,SCN9Ac.4173T>A (p.Asn1391Lys)
c.4017T>A (p.Asn1339Lys)
c.4140T>A (p.Asn1380Lys)
n.612-19471A>T
c.3786T>A (p.Asn1262Lys)
c.3429T>A (p.Asn1143Lys)
2g.166228725T>ACA349063309SCN1A-AS1,SCN9Ac.4172A>T (p.Asn1391Ile)
c.4016A>T (p.Asn1339Ile)
c.4139A>T (p.Asn1380Ile)
n.612-19470T>A
c.3785A>T (p.Asn1262Ile)
c.3428A>T (p.Asn1143Ile)
2g.166228725T>CCA349063313SCN1A-AS1,SCN9Ac.4172A>G (p.Asn1391Ser)
c.4016A>G (p.Asn1339Ser)
c.4139A>G (p.Asn1380Ser)
n.612-19470T>C
c.3785A>G (p.Asn1262Ser)
c.3428A>G (p.Asn1143Ser)
2g.166228725T>GCA349063311SCN1A-AS1,SCN9Ac.4172A>C (p.Asn1391Thr)
c.4016A>C (p.Asn1339Thr)
c.4139A>C (p.Asn1380Thr)
n.612-19470T>G
c.3785A>C (p.Asn1262Thr)
c.3428A>C (p.Asn1143Thr)
2g.166228726T>ACA349063315SCN1A-AS1,SCN9Ac.4171A>T (p.Asn1391Tyr)
c.4015A>T (p.Asn1339Tyr)
c.4138A>T (p.Asn1380Tyr)
n.612-19469T>A
c.3784A>T (p.Asn1262Tyr)
c.3427A>T (p.Asn1143Tyr)
2g.166228726T>CCA349063320SCN1A-AS1,SCN9Ac.4171A>G (p.Asn1391Asp)
c.4015A>G (p.Asn1339Asp)
c.4138A>G (p.Asn1380Asp)
n.612-19469T>C
c.3784A>G (p.Asn1262Asp)
c.3427A>G (p.Asn1143Asp)
 ClinVar dbSNP
2g.166228726T>GCA349063317SCN1A-AS1,SCN9Ac.4171A>C (p.Asn1391His)
c.4015A>C (p.Asn1339His)
c.4138A>C (p.Asn1380His)
n.612-19469T>G
c.3784A>C (p.Asn1262His)
c.3427A>C (p.Asn1143His)
2g.166228727A>CCA349063322SCN1A-AS1,SCN9Ac.4170T>G (p.Asp1390Glu)
c.4014T>G (p.Asp1338Glu)
c.4137T>G (p.Asp1379Glu)
n.612-19468A>C
c.3783T>G (p.Asp1261Glu)
c.3426T>G (p.Asp1142Glu)
2g.166228727A>GCA429899098SCN1A-AS1,SCN9Ac.4170T>C (p.Asp1390=)
c.4014T>C (p.Asp1338=)
c.4137T>C (p.Asp1379=)
n.612-19468A>G
c.3783T>C (p.Asp1261=)
c.3426T>C (p.Asp1142=)
 ClinVar dbSNP
2g.166228727A>TCA349063324SCN1A-AS1,SCN9Ac.4170T>A (p.Asp1390Glu)
c.4014T>A (p.Asp1338Glu)
c.4137T>A (p.Asp1379Glu)
n.612-19468A>T
c.3783T>A (p.Asp1261Glu)
c.3426T>A (p.Asp1142Glu)
2g.166228728T>ACA349063326SCN1A-AS1,SCN9Ac.4169A>T (p.Asp1390Val)
c.4013A>T (p.Asp1338Val)
c.4136A>T (p.Asp1379Val)
n.612-19467T>A
c.3782A>T (p.Asp1261Val)
c.3425A>T (p.Asp1142Val)
2g.166228728T>CCA349063327SCN1A-AS1,SCN9Ac.4169A>G (p.Asp1390Gly)
c.4013A>G (p.Asp1338Gly)
c.4136A>G (p.Asp1379Gly)
n.612-19467T>C
c.3782A>G (p.Asp1261Gly)
c.3425A>G (p.Asp1142Gly)
2g.166228728T>GCA349063329SCN1A-AS1,SCN9Ac.4169A>C (p.Asp1390Ala)
c.4013A>C (p.Asp1338Ala)
c.4136A>C (p.Asp1379Ala)
n.612-19467T>G
c.3782A>C (p.Asp1261Ala)
c.3425A>C (p.Asp1142Ala)
2g.166228729C>ACA349063332SCN1A-AS1,SCN9Ac.4168G>T (p.Asp1390Tyr)
c.4012G>T (p.Asp1338Tyr)
c.4135G>T (p.Asp1379Tyr)
n.612-19466C>A
c.3781G>T (p.Asp1261Tyr)
c.3424G>T (p.Asp1142Tyr)
 gnomAD v4
2g.166228729C=CA1304943609SCN1A-AS1,SCN9Ac.4168G= (p.Asp1390=)
c.4012G= (p.Asp1338=)
c.4135G= (p.Asp1379=)
n.612-19466C=
c.3781G= (p.Asp1261=)
c.3424G= (p.Asp1142=)
2g.166228729C>GCA349063334SCN1A-AS1,SCN9Ac.4168G>C (p.Asp1390His)
c.4012G>C (p.Asp1338His)
c.4135G>C (p.Asp1379His)
n.612-19466C>G
c.3781G>C (p.Asp1261His)
c.3424G>C (p.Asp1142His)
2g.166228729C>TCA1943938SCN1A-AS1,SCN9Ac.4168G>A (p.Asp1390Asn)
c.4012G>A (p.Asp1338Asn)
c.4135G>A (p.Asp1379Asn)
n.612-19466C>T
c.3781G>A (p.Asp1261Asn)
c.3424G>A (p.Asp1142Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166228730A>CCA349063337SCN1A-AS1,SCN9Ac.4167T>G (p.Phe1389Leu)
c.4011T>G (p.Phe1337Leu)
c.4134T>G (p.Phe1378Leu)
n.612-19465A>C
c.3780T>G (p.Phe1260Leu)
c.3423T>G (p.Phe1141Leu)
2g.166228730A>GCA429899100SCN1A-AS1,SCN9Ac.4167T>C (p.Phe1389=)
c.4011T>C (p.Phe1337=)
c.4134T>C (p.Phe1378=)
n.612-19465A>G
c.3780T>C (p.Phe1260=)
c.3423T>C (p.Phe1141=)
2g.166228730A>TCA349063340SCN1A-AS1,SCN9Ac.4167T>A (p.Phe1389Leu)
c.4011T>A (p.Phe1337Leu)
c.4134T>A (p.Phe1378Leu)
n.612-19465A>T
c.3780T>A (p.Phe1260Leu)
c.3423T>A (p.Phe1141Leu)
2g.166228731A>CCA349063343SCN1A-AS1,SCN9Ac.4166T>G (p.Phe1389Cys)
c.4010T>G (p.Phe1337Cys)
c.4133T>G (p.Phe1378Cys)
n.612-19464A>C
c.3779T>G (p.Phe1260Cys)
c.3422T>G (p.Phe1141Cys)
2g.166228731A>GCA349063344SCN1A-AS1,SCN9Ac.4166T>C (p.Phe1389Ser)
c.4010T>C (p.Phe1337Ser)
c.4133T>C (p.Phe1378Ser)
n.612-19464A>G
c.3779T>C (p.Phe1260Ser)
c.3422T>C (p.Phe1141Ser)
2g.166228731A>TCA349063346SCN1A-AS1,SCN9Ac.4166T>A (p.Phe1389Tyr)
c.4010T>A (p.Phe1337Tyr)
c.4133T>A (p.Phe1378Tyr)
n.612-19464A>T
c.3779T>A (p.Phe1260Tyr)
c.3422T>A (p.Phe1141Tyr)
2g.166228732A>CCA349063353SCN1A-AS1,SCN9Ac.4165T>G (p.Phe1389Val)
c.4009T>G (p.Phe1337Val)
c.4132T>G (p.Phe1378Val)
n.612-19463A>C
c.3778T>G (p.Phe1260Val)
c.3421T>G (p.Phe1141Val)
2g.166228732A>GCA349063351SCN1A-AS1,SCN9Ac.4165T>C (p.Phe1389Leu)
c.4009T>C (p.Phe1337Leu)
c.4132T>C (p.Phe1378Leu)
n.612-19463A>G
c.3778T>C (p.Phe1260Leu)
c.3421T>C (p.Phe1141Leu)
2g.166228732A>TCA349063349SCN1A-AS1,SCN9Ac.4165T>A (p.Phe1389Ile)
c.4009T>A (p.Phe1337Ile)
c.4132T>A (p.Phe1378Ile)
n.612-19463A>T
c.3778T>A (p.Phe1260Ile)
c.3421T>A (p.Phe1141Ile)
2g.166228733G>ACA59810228SCN1A-AS1,SCN9Ac.4164C>T (p.Asn1388=)
c.4008C>T (p.Asn1336=)
c.4131C>T (p.Asn1377=)
n.612-19462G>A
c.3777C>T (p.Asn1259=)
c.3420C>T (p.Asn1140=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166228733G>CCA349063356SCN1A-AS1,SCN9Ac.4164C>G (p.Asn1388Lys)
c.4008C>G (p.Asn1336Lys)
c.4131C>G (p.Asn1377Lys)
n.612-19462G>C
c.3777C>G (p.Asn1259Lys)
c.3420C>G (p.Asn1140Lys)
2g.166228733G=CA1304943610SCN1A-AS1,SCN9Ac.4164C= (p.Asn1388=)
c.4008C= (p.Asn1336=)
c.4131C= (p.Asn1377=)
n.612-19462G=
c.3777C= (p.Asn1259=)
c.3420C= (p.Asn1140=)
2g.166228733G>TCA349063358SCN1A-AS1,SCN9Ac.4164C>A (p.Asn1388Lys)
c.4008C>A (p.Asn1336Lys)
c.4131C>A (p.Asn1377Lys)
n.612-19462G>T
c.3777C>A (p.Asn1259Lys)
c.3420C>A (p.Asn1140Lys)
2g.166228734T>ACA349063361SCN1A-AS1,SCN9Ac.4163A>T (p.Asn1388Ile)
c.4007A>T (p.Asn1336Ile)
c.4130A>T (p.Asn1377Ile)
n.612-19461T>A
c.3776A>T (p.Asn1259Ile)
c.3419A>T (p.Asn1140Ile)
2g.166228734T>CCA59810232SCN1A-AS1,SCN9Ac.4163A>G (p.Asn1388Ser)
c.4007A>G (p.Asn1336Ser)
c.4130A>G (p.Asn1377Ser)
n.612-19461T>C
c.3776A>G (p.Asn1259Ser)
c.3419A>G (p.Asn1140Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166228734T>GCA349063364SCN1A-AS1,SCN9Ac.4163A>C (p.Asn1388Thr)
c.4007A>C (p.Asn1336Thr)
c.4130A>C (p.Asn1377Thr)
n.612-19461T>G
c.3776A>C (p.Asn1259Thr)
c.3419A>C (p.Asn1140Thr)
2g.166228734T=CA1304943611SCN1A-AS1,SCN9Ac.4163A= (p.Asn1388=)
c.4007A= (p.Asn1336=)
c.4130A= (p.Asn1377=)
n.612-19461T=
c.3776A= (p.Asn1259=)
c.3419A= (p.Asn1140=)
2g.166228735T>ACA349063367SCN1A-AS1,SCN9Ac.4162A>T (p.Asn1388Tyr)
c.4006A>T (p.Asn1336Tyr)
c.4129A>T (p.Asn1377Tyr)
n.612-19460T>A
c.3775A>T (p.Asn1259Tyr)
c.3418A>T (p.Asn1140Tyr)
2g.166228735T>CCA349063368SCN1A-AS1,SCN9Ac.4162A>G (p.Asn1388Asp)
c.4006A>G (p.Asn1336Asp)
c.4129A>G (p.Asn1377Asp)
n.612-19460T>C
c.3775A>G (p.Asn1259Asp)
c.3418A>G (p.Asn1140Asp)
2g.166228735T>GCA349063371SCN1A-AS1,SCN9Ac.4162A>C (p.Asn1388His)
c.4006A>C (p.Asn1336His)
c.4129A>C (p.Asn1377His)
n.612-19460T>G
c.3775A>C (p.Asn1259His)
c.3418A>C (p.Asn1140His)
2g.166228736C>ACA429899102SCN1A-AS1,SCN9Ac.4161G>T (p.Val1387=)
c.4005G>T (p.Val1335=)
c.4128G>T (p.Val1376=)
n.612-19459C>A
c.3774G>T (p.Val1258=)
c.3417G>T (p.Val1139=)
2g.166228736C>GCA429899103SCN1A-AS1,SCN9Ac.4161G>C (p.Val1387=)
c.4005G>C (p.Val1335=)
c.4128G>C (p.Val1376=)
n.612-19459C>G
c.3774G>C (p.Val1258=)
c.3417G>C (p.Val1139=)
2g.166228736C>TCA429899104SCN1A-AS1,SCN9Ac.4161G>A (p.Val1387=)
c.4005G>A (p.Val1335=)
c.4128G>A (p.Val1376=)
n.612-19459C>T
c.3774G>A (p.Val1258=)
c.3417G>A (p.Val1139=)
 gnomAD v4 COSMIC COSMIC
2g.166228737A=CA1304943612SCN1A-AS1,SCN9Ac.4160T= (p.Val1387=)
c.4004T= (p.Val1335=)
c.4127T= (p.Val1376=)
n.612-19458A=
c.3773T= (p.Val1258=)
c.3416T= (p.Val1139=)
2g.166228737A>CCA349063373SCN1A-AS1,SCN9Ac.4160T>G (p.Val1387Gly)
c.4004T>G (p.Val1335Gly)
c.4127T>G (p.Val1376Gly)
n.612-19458A>C
c.3773T>G (p.Val1258Gly)
c.3416T>G (p.Val1139Gly)
2g.166228737A>GCA349063375SCN1A-AS1,SCN9Ac.4160T>C (p.Val1387Ala)
c.4004T>C (p.Val1335Ala)
c.4127T>C (p.Val1376Ala)
n.612-19458A>G
c.3773T>C (p.Val1258Ala)
c.3416T>C (p.Val1139Ala)
 ClinVar
2g.166228737A>TCA349063377SCN1A-AS1,SCN9Ac.4160T>A (p.Val1387Glu)
c.4004T>A (p.Val1335Glu)
c.4127T>A (p.Val1376Glu)
n.612-19458A>T
c.3773T>A (p.Val1258Glu)
c.3416T>A (p.Val1139Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.166228738C>ACA349063384SCN1A-AS1,SCN9Ac.4159G>T (p.Val1387Leu)
c.4003G>T (p.Val1335Leu)
c.4126G>T (p.Val1376Leu)
n.612-19457C>A
c.3772G>T (p.Val1258Leu)
c.3415G>T (p.Val1139Leu)
2g.166228738C>GCA349063382SCN1A-AS1,SCN9Ac.4159G>C (p.Val1387Leu)
c.4003G>C (p.Val1335Leu)
c.4126G>C (p.Val1376Leu)
n.612-19457C>G
c.3772G>C (p.Val1258Leu)
c.3415G>C (p.Val1139Leu)
2g.166228738C>TCA349063379SCN1A-AS1,SCN9Ac.4159G>A (p.Val1387Met)
c.4003G>A (p.Val1335Met)
c.4126G>A (p.Val1376Met)
n.612-19457C>T
c.3772G>A (p.Val1258Met)
c.3415G>A (p.Val1139Met)
2g.166228739T>ACA349063386SCN1A-AS1,SCN9Ac.4158A>T (p.Lys1386Asn)
c.4002A>T (p.Lys1334Asn)
c.4125A>T (p.Lys1375Asn)
n.612-19456T>A
c.3771A>T (p.Lys1257Asn)
c.3414A>T (p.Lys1138Asn)
2g.166228739T>CCA429899107SCN1A-AS1,SCN9Ac.4158A>G (p.Lys1386=)
c.4002A>G (p.Lys1334=)
c.4125A>G (p.Lys1375=)
n.612-19456T>C
c.3771A>G (p.Lys1257=)
c.3414A>G (p.Lys1138=)
2g.166228739T>GCA349063389SCN1A-AS1,SCN9Ac.4158A>C (p.Lys1386Asn)
c.4002A>C (p.Lys1334Asn)
c.4125A>C (p.Lys1375Asn)
n.612-19456T>G
c.3771A>C (p.Lys1257Asn)
c.3414A>C (p.Lys1138Asn)
2g.166228740T>ACA349063391SCN1A-AS1,SCN9Ac.4157A>T (p.Lys1386Ile)
c.4001A>T (p.Lys1334Ile)
c.4124A>T (p.Lys1375Ile)
n.612-19455T>A
c.3770A>T (p.Lys1257Ile)
c.3413A>T (p.Lys1138Ile)
2g.166228740T>CCA1943939SCN1A-AS1,SCN9Ac.4157A>G (p.Lys1386Arg)
c.4001A>G (p.Lys1334Arg)
c.4124A>G (p.Lys1375Arg)
n.612-19455T>C
c.3770A>G (p.Lys1257Arg)
c.3413A>G (p.Lys1138Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166228740T>GCA349063395SCN1A-AS1,SCN9Ac.4157A>C (p.Lys1386Thr)
c.4001A>C (p.Lys1334Thr)
c.4124A>C (p.Lys1375Thr)
n.612-19455T>G
c.3770A>C (p.Lys1257Thr)
c.3413A>C (p.Lys1138Thr)
2g.166228740T=CA1304943613SCN1A-AS1,SCN9Ac.4157A= (p.Lys1386=)
c.4001A= (p.Lys1334=)
c.4124A= (p.Lys1375=)
n.612-19455T=
c.3770A= (p.Lys1257=)
c.3413A= (p.Lys1138=)
2g.166228741T>ACA349063397SCN1A-AS1,SCN9Ac.4156A>T (p.Lys1386Ter)
c.4000A>T (p.Lys1334Ter)
c.4123A>T (p.Lys1375Ter)
n.612-19454T>A
c.3769A>T (p.Lys1257Ter)
c.3412A>T (p.Lys1138Ter)
 dbSNP
2g.166228741T>CCA349063400SCN1A-AS1,SCN9Ac.4156A>G (p.Lys1386Glu)
c.4000A>G (p.Lys1334Glu)
c.4123A>G (p.Lys1375Glu)
n.612-19454T>C
c.3769A>G (p.Lys1257Glu)
c.3412A>G (p.Lys1138Glu)
 ClinVar gnomAD v4
2g.166228741T>GCA1943940SCN1A-AS1,SCN9Ac.4156A>C (p.Lys1386Gln)
c.4000A>C (p.Lys1334Gln)
c.4123A>C (p.Lys1375Gln)
n.612-19454T>G
c.3769A>C (p.Lys1257Gln)
c.3412A>C (p.Lys1138Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228741T=CA1304943614SCN1A-AS1,SCN9Ac.4156A= (p.Lys1386=)
c.4000A= (p.Lys1334=)
c.4123A= (p.Lys1375=)
n.612-19454T=
c.3769A= (p.Lys1257=)
c.3412A= (p.Lys1138=)
2g.166228742C>ACA429899113SCN1A-AS1,SCN9Ac.4155G>T (p.Leu1385=)
c.3999G>T (p.Leu1333=)
c.4122G>T (p.Leu1374=)
n.612-19453C>A
c.3768G>T (p.Leu1256=)
c.3411G>T (p.Leu1137=)
2g.166228742C=CA1304943615SCN1A-AS1,SCN9Ac.4155G= (p.Leu1385=)
c.3999G= (p.Leu1333=)
c.4122G= (p.Leu1374=)
n.612-19453C=
c.3768G= (p.Leu1256=)
c.3411G= (p.Leu1137=)
2g.166228742C>GCA429899111SCN1A-AS1,SCN9Ac.4155G>C (p.Leu1385=)
c.3999G>C (p.Leu1333=)
c.4122G>C (p.Leu1374=)
n.612-19453C>G
c.3768G>C (p.Leu1256=)
c.3411G>C (p.Leu1137=)
2g.166228742C>TCA429899112SCN1A-AS1,SCN9Ac.4155G>A (p.Leu1385=)
c.3999G>A (p.Leu1333=)
c.4122G>A (p.Leu1374=)
n.612-19453C>T
c.3768G>A (p.Leu1256=)
c.3411G>A (p.Leu1137=)
 ClinVar dbSNP gnomAD v4
2g.166228744_166228758delCA2586970372SCN1A-AS1,SCN9Ac.4141_4155del (p.Arg1381_Leu1385del)
c.3985_3999del (p.Arg1329_Leu1333del)
c.4108_4122del (p.Arg1370_Leu1374del)
n.612-19451_612-19437del
c.3754_3768del (p.Arg1252_Leu1256del)
c.3397_3411del (p.Arg1133_Leu1137del)
2g.166228743A>CCA349063404SCN1A-AS1,SCN9Ac.4154T>G (p.Leu1385Arg)
c.3998T>G (p.Leu1333Arg)
c.4121T>G (p.Leu1374Arg)
n.612-19452A>C
c.3767T>G (p.Leu1256Arg)
c.3410T>G (p.Leu1137Arg)
2g.166228743A>GCA349063405SCN1A-AS1,SCN9Ac.4154T>C (p.Leu1385Pro)
c.3998T>C (p.Leu1333Pro)
c.4121T>C (p.Leu1374Pro)
n.612-19452A>G
c.3767T>C (p.Leu1256Pro)
c.3410T>C (p.Leu1137Pro)
2g.166228743A>TCA349063407SCN1A-AS1,SCN9Ac.4154T>A (p.Leu1385Gln)
c.3998T>A (p.Leu1333Gln)
c.4121T>A (p.Leu1374Gln)
n.612-19452A>T
c.3767T>A (p.Leu1256Gln)
c.3410T>A (p.Leu1137Gln)
 COSMIC COSMIC
2g.166228744G>ACA429899114SCN1A-AS1,SCN9Ac.4153C>T (p.Leu1385=)
c.3997C>T (p.Leu1333=)
c.4120C>T (p.Leu1374=)
n.612-19451G>A
c.3766C>T (p.Leu1256=)
c.3409C>T (p.Leu1137=)
2g.166228744G>CCA349063409SCN1A-AS1,SCN9Ac.4153C>G (p.Leu1385Val)
c.3997C>G (p.Leu1333Val)
c.4120C>G (p.Leu1374Val)
n.612-19451G>C
c.3766C>G (p.Leu1256Val)
c.3409C>G (p.Leu1137Val)
2g.166228744G>TCA349063411SCN1A-AS1,SCN9Ac.4153C>A (p.Leu1385Met)
c.3997C>A (p.Leu1333Met)
c.4120C>A (p.Leu1374Met)
n.612-19451G>T
c.3766C>A (p.Leu1256Met)
c.3409C>A (p.Leu1137Met)
2g.166228745G>ACA429899115SCN1A-AS1,SCN9Ac.4152C>T (p.Asn1384=)
c.3996C>T (p.Asn1332=)
c.4119C>T (p.Asn1373=)
n.612-19450G>A
c.3765C>T (p.Asn1255=)
c.3408C>T (p.Asn1136=)
 COSMIC COSMIC
2g.166228745G>CCA349063413SCN1A-AS1,SCN9Ac.4152C>G (p.Asn1384Lys)
c.3996C>G (p.Asn1332Lys)
c.4119C>G (p.Asn1373Lys)
n.612-19450G>C
c.3765C>G (p.Asn1255Lys)
c.3408C>G (p.Asn1136Lys)
2g.166228745G>TCA349063415SCN1A-AS1,SCN9Ac.4152C>A (p.Asn1384Lys)
c.3996C>A (p.Asn1332Lys)
c.4119C>A (p.Asn1373Lys)
n.612-19450G>T
c.3765C>A (p.Asn1255Lys)
c.3408C>A (p.Asn1136Lys)
2g.166228746T>ACA349063417SCN1A-AS1,SCN9Ac.4151A>T (p.Asn1384Ile)
c.3995A>T (p.Asn1332Ile)
c.4118A>T (p.Asn1373Ile)
n.612-19449T>A
c.3764A>T (p.Asn1255Ile)
c.3407A>T (p.Asn1136Ile)
2g.166228746T>CCA349063419SCN1A-AS1,SCN9Ac.4151A>G (p.Asn1384Ser)
c.3995A>G (p.Asn1332Ser)
c.4118A>G (p.Asn1373Ser)
n.612-19449T>C
c.3764A>G (p.Asn1255Ser)
c.3407A>G (p.Asn1136Ser)
2g.166228746T>GCA349063422SCN1A-AS1,SCN9Ac.4151A>C (p.Asn1384Thr)
c.3995A>C (p.Asn1332Thr)
c.4118A>C (p.Asn1373Thr)
n.612-19449T>G
c.3764A>C (p.Asn1255Thr)
c.3407A>C (p.Asn1136Thr)
2g.166228747T>ACA349063424SCN1A-AS1,SCN9Ac.4150A>T (p.Asn1384Tyr)
c.3994A>T (p.Asn1332Tyr)
c.4117A>T (p.Asn1373Tyr)
n.612-19448T>A
c.3763A>T (p.Asn1255Tyr)
c.3406A>T (p.Asn1136Tyr)
2g.166228747T>CCA349063425SCN1A-AS1,SCN9Ac.4150A>G (p.Asn1384Asp)
c.3994A>G (p.Asn1332Asp)
c.4117A>G (p.Asn1373Asp)
n.612-19448T>C
c.3763A>G (p.Asn1255Asp)
c.3406A>G (p.Asn1136Asp)
2g.166228747T>GCA349063426SCN1A-AS1,SCN9Ac.4150A>C (p.Asn1384His)
c.3994A>C (p.Asn1332His)
c.4117A>C (p.Asn1373His)
n.612-19448T>G
c.3763A>C (p.Asn1255His)
c.3406A>C (p.Asn1136His)
2g.166228748T>ACA349063427SCN1A-AS1,SCN9Ac.4149A>T (p.Lys1383Asn)
c.3993A>T (p.Lys1331Asn)
c.4116A>T (p.Lys1372Asn)
n.612-19447T>A
c.3762A>T (p.Lys1254Asn)
c.3405A>T (p.Lys1135Asn)
2g.166228748T>CCA429899119SCN1A-AS1,SCN9Ac.4149A>G (p.Lys1383=)
c.3993A>G (p.Lys1331=)
c.4116A>G (p.Lys1372=)
n.612-19447T>C
c.3762A>G (p.Lys1254=)
c.3405A>G (p.Lys1135=)
 dbSNP
2g.166228748T>GCA349063428SCN1A-AS1,SCN9Ac.4149A>C (p.Lys1383Asn)
c.3993A>C (p.Lys1331Asn)
c.4116A>C (p.Lys1372Asn)
n.612-19447T>G
c.3762A>C (p.Lys1254Asn)
c.3405A>C (p.Lys1135Asn)
2g.166228748T=CA1304943616SCN1A-AS1,SCN9Ac.4149A= (p.Lys1383=)
c.3993A= (p.Lys1331=)
c.4116A= (p.Lys1372=)
n.612-19447T=
c.3762A= (p.Lys1254=)
c.3405A= (p.Lys1135=)
2g.166228749T>ACA349063429SCN1A-AS1,SCN9Ac.4148A>T (p.Lys1383Ile)
c.3992A>T (p.Lys1331Ile)
c.4115A>T (p.Lys1372Ile)
n.612-19446T>A
c.3761A>T (p.Lys1254Ile)
c.3404A>T (p.Lys1135Ile)
2g.166228749T>CCA209307SCN1A-AS1,SCN9Ac.4148A>G (p.Lys1383Arg)
c.3992A>G (p.Lys1331Arg)
c.4115A>G (p.Lys1372Arg)
n.612-19446T>C
c.3761A>G (p.Lys1254Arg)
c.3404A>G (p.Lys1135Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228749T>GCA349063430SCN1A-AS1,SCN9Ac.4148A>C (p.Lys1383Thr)
c.3992A>C (p.Lys1331Thr)
c.4115A>C (p.Lys1372Thr)
n.612-19446T>G
c.3761A>C (p.Lys1254Thr)
c.3404A>C (p.Lys1135Thr)
2g.166228749T=CA1304943617SCN1A-AS1,SCN9Ac.4148A= (p.Lys1383=)
c.3992A= (p.Lys1331=)
c.4115A= (p.Lys1372=)
n.612-19446T=
c.3761A= (p.Lys1254=)
c.3404A= (p.Lys1135=)
2g.166228750T>ACA349063432SCN1A-AS1,SCN9Ac.4147A>T (p.Lys1383Ter)
c.3991A>T (p.Lys1331Ter)
c.4114A>T (p.Lys1372Ter)
n.612-19445T>A
c.3760A>T (p.Lys1254Ter)
c.3403A>T (p.Lys1135Ter)
2g.166228750T>CCA1943941SCN1A-AS1,SCN9Ac.4147A>G (p.Lys1383Glu)
c.3991A>G (p.Lys1331Glu)
c.4114A>G (p.Lys1372Glu)
n.612-19445T>C
c.3760A>G (p.Lys1254Glu)
c.3403A>G (p.Lys1135Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228750T>GCA349063431SCN1A-AS1,SCN9Ac.4147A>C (p.Lys1383Gln)
c.3991A>C (p.Lys1331Gln)
c.4114A>C (p.Lys1372Gln)
n.612-19445T>G
c.3760A>C (p.Lys1254Gln)
c.3403A>C (p.Lys1135Gln)
2g.166228750T=CA1304943618SCN1A-AS1,SCN9Ac.4147A= (p.Lys1383=)
c.3991A= (p.Lys1331=)
c.4114A= (p.Lys1372=)
n.612-19445T=
c.3760A= (p.Lys1254=)
c.3403A= (p.Lys1135=)
2g.166228751C>ACA349063433SCN1A-AS1,SCN9Ac.4146G>T (p.Trp1382Cys)
c.3990G>T (p.Trp1330Cys)
c.4113G>T (p.Trp1371Cys)
n.612-19444C>A
c.3759G>T (p.Trp1253Cys)
c.3402G>T (p.Trp1134Cys)
2g.166228751C=CA1304943619SCN1A-AS1,SCN9Ac.4146G= (p.Trp1382=)
c.3990G= (p.Trp1330=)
c.4113G= (p.Trp1371=)
n.612-19444C=
c.3759G= (p.Trp1253=)
c.3402G= (p.Trp1134=)
2g.166228751C>GCA349063435SCN1A-AS1,SCN9Ac.4146G>C (p.Trp1382Cys)
c.3990G>C (p.Trp1330Cys)
c.4113G>C (p.Trp1371Cys)
n.612-19444C>G
c.3759G>C (p.Trp1253Cys)
c.3402G>C (p.Trp1134Cys)
2g.166228751C>TCA349063434SCN1A-AS1,SCN9Ac.4146G>A (p.Trp1382Ter)
c.3990G>A (p.Trp1330Ter)
c.4113G>A (p.Trp1371Ter)
n.612-19444C>T
c.3759G>A (p.Trp1253Ter)
c.3402G>A (p.Trp1134Ter)
 dbSNP COSMIC COSMIC
2g.166228752C>ACA349063436SCN1A-AS1,SCN9Ac.4145G>T (p.Trp1382Leu)
c.3989G>T (p.Trp1330Leu)
c.4112G>T (p.Trp1371Leu)
n.612-19443C>A
c.3758G>T (p.Trp1253Leu)
c.3401G>T (p.Trp1134Leu)
2g.166228752C>GCA349063437SCN1A-AS1,SCN9Ac.4145G>C (p.Trp1382Ser)
c.3989G>C (p.Trp1330Ser)
c.4112G>C (p.Trp1371Ser)
n.612-19443C>G
c.3758G>C (p.Trp1253Ser)
c.3401G>C (p.Trp1134Ser)
2g.166228752C>TCA349063438SCN1A-AS1,SCN9Ac.4145G>A (p.Trp1382Ter)
c.3989G>A (p.Trp1330Ter)
c.4112G>A (p.Trp1371Ter)
n.612-19443C>T
c.3758G>A (p.Trp1253Ter)
c.3401G>A (p.Trp1134Ter)
2g.166228753A=CA1304943620SCN1A-AS1,SCN9Ac.4144T= (p.Trp1382=)
c.3988T= (p.Trp1330=)
c.4111T= (p.Trp1371=)
n.612-19442A=
c.3757T= (p.Trp1253=)
c.3400T= (p.Trp1134=)
2g.166228753A>CCA349063439SCN1A-AS1,SCN9Ac.4144T>G (p.Trp1382Gly)
c.3988T>G (p.Trp1330Gly)
c.4111T>G (p.Trp1371Gly)
n.612-19442A>C
c.3757T>G (p.Trp1253Gly)
c.3400T>G (p.Trp1134Gly)
2g.166228753A>GCA349063440SCN1A-AS1,SCN9Ac.4144T>C (p.Trp1382Arg)
c.3988T>C (p.Trp1330Arg)
c.4111T>C (p.Trp1371Arg)
n.612-19442A>G
c.3757T>C (p.Trp1253Arg)
c.3400T>C (p.Trp1134Arg)
 ClinVar gnomAD v4
2g.166228753A>TCA1943942SCN1A-AS1,SCN9Ac.4144T>A (p.Trp1382Arg)
c.3988T>A (p.Trp1330Arg)
c.4111T>A (p.Trp1371Arg)
n.612-19442A>T
c.3757T>A (p.Trp1253Arg)
c.3400T>A (p.Trp1134Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.166228754T>ACA429899123SCN1A-AS1,SCN9Ac.4143A>T (p.Arg1381=)
c.3987A>T (p.Arg1329=)
c.4110A>T (p.Arg1370=)
n.612-19441T>A
c.3756A>T (p.Arg1252=)
c.3399A>T (p.Arg1133=)
 ClinVar dbSNP gnomAD v4
2g.166228754T>CCA59810250SCN1A-AS1,SCN9Ac.4143A>G (p.Arg1381=)
c.3987A>G (p.Arg1329=)
c.4110A>G (p.Arg1370=)
n.612-19441T>C
c.3756A>G (p.Arg1252=)
c.3399A>G (p.Arg1133=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166228754T>GCA429899125SCN1A-AS1,SCN9Ac.4143A>C (p.Arg1381=)
c.3987A>C (p.Arg1329=)
c.4110A>C (p.Arg1370=)
n.612-19441T>G
c.3756A>C (p.Arg1252=)
c.3399A>C (p.Arg1133=)
2g.166228754T=CA1304943621SCN1A-AS1,SCN9Ac.4143A= (p.Arg1381=)
c.3987A= (p.Arg1329=)
c.4110A= (p.Arg1370=)
n.612-19441T=
c.3756A= (p.Arg1252=)
c.3399A= (p.Arg1133=)
2g.166228755C>ACA349063441SCN1A-AS1,SCN9Ac.4142G>T (p.Arg1381Leu)
c.3986G>T (p.Arg1329Leu)
c.4109G>T (p.Arg1370Leu)
n.612-19440C>A
c.3755G>T (p.Arg1252Leu)
c.3398G>T (p.Arg1133Leu)
2g.166228755C=CA1304943622SCN1A-AS1,SCN9Ac.4142G= (p.Arg1381=)
c.3986G= (p.Arg1329=)
c.4109G= (p.Arg1370=)
n.612-19440C=
c.3755G= (p.Arg1252=)
c.3398G= (p.Arg1133=)
2g.166228755C>GCA349063442SCN1A-AS1,SCN9Ac.4142G>C (p.Arg1381Pro)
c.3986G>C (p.Arg1329Pro)
c.4109G>C (p.Arg1370Pro)
n.612-19440C>G
c.3755G>C (p.Arg1252Pro)
c.3398G>C (p.Arg1133Pro)
2g.166228755C>TCA1943943SCN1A-AS1,SCN9Ac.4142G>A (p.Arg1381Gln)
c.3986G>A (p.Arg1329Gln)
c.4109G>A (p.Arg1370Gln)
n.612-19440C>T
c.3755G>A (p.Arg1252Gln)
c.3398G>A (p.Arg1133Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166228756G>ACA1943944SCN1A-AS1,SCN9Ac.4141C>T (p.Arg1381Ter)
c.3985C>T (p.Arg1329Ter)
c.4108C>T (p.Arg1370Ter)
n.612-19439G>A
c.3754C>T (p.Arg1252Ter)
c.3397C>T (p.Arg1133Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.166228756G>CCA349063443SCN1A-AS1,SCN9Ac.4141C>G (p.Arg1381Gly)
c.3985C>G (p.Arg1329Gly)
c.4108C>G (p.Arg1370Gly)
n.612-19439G>C
c.3754C>G (p.Arg1252Gly)
c.3397C>G (p.Arg1133Gly)
 gnomAD v4
2g.166228756G=CA1304943623SCN1A-AS1,SCN9Ac.4141C= (p.Arg1381=)
c.3985C= (p.Arg1329=)
c.4108C= (p.Arg1370=)
n.612-19439G=
c.3754C= (p.Arg1252=)
c.3397C= (p.Arg1133=)
2g.166228756G>TCA16603952SCN1A-AS1,SCN9Ac.4141C>A (p.Arg1381=)
c.3985C>A (p.Arg1329=)
c.4108C>A (p.Arg1370=)
n.612-19439G>T
c.3754C>A (p.Arg1252=)
c.3397C>A (p.Arg1133=)
 ClinVar dbSNP
2g.166228757C>ACA429899127SCN1A-AS1,SCN9Ac.4140G>T (p.Val1380=)
c.3984G>T (p.Val1328=)
c.4107G>T (p.Val1369=)
n.612-19438C>A
c.3753G>T (p.Val1251=)
c.3396G>T (p.Val1132=)
2g.166228757C=CA1304943624SCN1A-AS1,SCN9Ac.4140G= (p.Val1380=)
c.3984G= (p.Val1328=)
c.4107G= (p.Val1369=)
n.612-19438C=
c.3753G= (p.Val1251=)
c.3396G= (p.Val1132=)
2g.166228757C>GCA429899128SCN1A-AS1,SCN9Ac.4140G>C (p.Val1380=)
c.3984G>C (p.Val1328=)
c.4107G>C (p.Val1369=)
n.612-19438C>G
c.3753G>C (p.Val1251=)
c.3396G>C (p.Val1132=)
2g.166228757C>TCA429899129SCN1A-AS1,SCN9Ac.4140G>A (p.Val1380=)
c.3984G>A (p.Val1328=)
c.4107G>A (p.Val1369=)
n.612-19438C>T
c.3753G>A (p.Val1251=)
c.3396G>A (p.Val1132=)
 ClinVar dbSNP gnomAD v4
2g.166228758A=CA1304943625SCN1A-AS1,SCN9Ac.4139T= (p.Val1380=)
c.3983T= (p.Val1328=)
c.4106T= (p.Val1369=)
n.612-19437A=
c.3752T= (p.Val1251=)
c.3395T= (p.Val1132=)
2g.166228758A>CCA349063445SCN1A-AS1,SCN9Ac.4139T>G (p.Val1380Gly)
c.3983T>G (p.Val1328Gly)
c.4106T>G (p.Val1369Gly)
n.612-19437A>C
c.3752T>G (p.Val1251Gly)
c.3395T>G (p.Val1132Gly)
2g.166228758A>GCA1943945SCN1A-AS1,SCN9Ac.4139T>C (p.Val1380Ala)
c.3983T>C (p.Val1328Ala)
c.4106T>C (p.Val1369Ala)
n.612-19437A>G
c.3752T>C (p.Val1251Ala)
c.3395T>C (p.Val1132Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228758A>TCA349063444SCN1A-AS1,SCN9Ac.4139T>A (p.Val1380Glu)
c.3983T>A (p.Val1328Glu)
c.4106T>A (p.Val1369Glu)
n.612-19437A>T
c.3752T>A (p.Val1251Glu)
c.3395T>A (p.Val1132Glu)
2g.166228759C>ACA349063446SCN1A-AS1,SCN9Ac.4138G>T (p.Val1380Leu)
c.3982G>T (p.Val1328Leu)
c.4105G>T (p.Val1369Leu)
n.612-19436C>A
c.3751G>T (p.Val1251Leu)
c.3394G>T (p.Val1132Leu)
 COSMIC COSMIC
2g.166228759C>GCA349063447SCN1A-AS1,SCN9Ac.4138G>C (p.Val1380Leu)
c.3982G>C (p.Val1328Leu)
c.4105G>C (p.Val1369Leu)
n.612-19436C>G
c.3751G>C (p.Val1251Leu)
c.3394G>C (p.Val1132Leu)
2g.166228759C>TCA349063448SCN1A-AS1,SCN9Ac.4138G>A (p.Val1380Met)
c.3982G>A (p.Val1328Met)
c.4105G>A (p.Val1369Met)
n.612-19436C>T
c.3751G>A (p.Val1251Met)
c.3394G>A (p.Val1132Met)
2g.166228760A>CCA349063449SCN1A-AS1,SCN9Ac.4137T>G (p.Asn1379Lys)
c.3981T>G (p.Asn1327Lys)
c.4104T>G (p.Asn1368Lys)
n.612-19435A>C
c.3750T>G (p.Asn1250Lys)
c.3393T>G (p.Asn1131Lys)
2g.166228760A>GCA429899133SCN1A-AS1,SCN9Ac.4137T>C (p.Asn1379=)
c.3981T>C (p.Asn1327=)
c.4104T>C (p.Asn1368=)
n.612-19435A>G
c.3750T>C (p.Asn1250=)
c.3393T>C (p.Asn1131=)
2g.166228760A>TCA349063450SCN1A-AS1,SCN9Ac.4137T>A (p.Asn1379Lys)
c.3981T>A (p.Asn1327Lys)
c.4104T>A (p.Asn1368Lys)
n.612-19435A>T
c.3750T>A (p.Asn1250Lys)
c.3393T>A (p.Asn1131Lys)
2g.166228761T>ACA349063451SCN1A-AS1,SCN9Ac.4136A>T (p.Asn1379Ile)
c.3980A>T (p.Asn1327Ile)
c.4103A>T (p.Asn1368Ile)
n.612-19434T>A
c.3749A>T (p.Asn1250Ile)
c.3392A>T (p.Asn1131Ile)
2g.166228761T>CCA349063452SCN1A-AS1,SCN9Ac.4136A>G (p.Asn1379Ser)
c.3980A>G (p.Asn1327Ser)
c.4103A>G (p.Asn1368Ser)
n.612-19434T>C
c.3749A>G (p.Asn1250Ser)
c.3392A>G (p.Asn1131Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.166228761T>GCA349063453SCN1A-AS1,SCN9Ac.4136A>C (p.Asn1379Thr)
c.3980A>C (p.Asn1327Thr)
c.4103A>C (p.Asn1368Thr)
n.612-19434T>G
c.3749A>C (p.Asn1250Thr)
c.3392A>C (p.Asn1131Thr)
2g.166228761T=CA1304943626SCN1A-AS1,SCN9Ac.4136A= (p.Asn1379=)
c.3980A= (p.Asn1327=)
c.4103A= (p.Asn1368=)
n.612-19434T=
c.3749A= (p.Asn1250=)
c.3392A= (p.Asn1131=)
2g.166228764delCA645519728SCN1A-AS1,SCN9Ac.4136del (p.Asn1379MetfsTer7)
c.3980del (p.Asn1327MetfsTer7)
c.4103del (p.Asn1368MetfsTer7)
n.612-19431del
c.3749del (p.Asn1250MetfsTer7)
c.3392del (p.Asn1131MetfsTer7)
 COSMIC COSMIC
2g.166228762T>ACA349063454SCN1A-AS1,SCN9Ac.4135A>T (p.Asn1379Tyr)
c.3979A>T (p.Asn1327Tyr)
c.4102A>T (p.Asn1368Tyr)
n.612-19433T>A
c.3748A>T (p.Asn1250Tyr)
c.3391A>T (p.Asn1131Tyr)
2g.166228762T>CCA349063455SCN1A-AS1,SCN9Ac.4135A>G (p.Asn1379Asp)
c.3979A>G (p.Asn1327Asp)
c.4102A>G (p.Asn1368Asp)
n.612-19433T>C
c.3748A>G (p.Asn1250Asp)
c.3391A>G (p.Asn1131Asp)
2g.166228762T>GCA349063457SCN1A-AS1,SCN9Ac.4135A>C (p.Asn1379His)
c.3979A>C (p.Asn1327His)
c.4102A>C (p.Asn1368His)
n.612-19433T>G
c.3748A>C (p.Asn1250His)
c.3391A>C (p.Asn1131His)
 gnomAD v4
2g.166228763T>ACA349063459SCN1A-AS1,SCN9Ac.4134A>T (p.Gln1378His)
c.3978A>T (p.Gln1326His)
c.4101A>T (p.Gln1367His)
n.612-19432T>A
c.3747A>T (p.Gln1249His)
c.3390A>T (p.Gln1130His)
2g.166228763T>CCA429899134SCN1A-AS1,SCN9Ac.4134A>G (p.Gln1378=)
c.3978A>G (p.Gln1326=)
c.4101A>G (p.Gln1367=)
n.612-19432T>C
c.3747A>G (p.Gln1249=)
c.3390A>G (p.Gln1130=)
2g.166228763T>GCA349063460SCN1A-AS1,SCN9Ac.4134A>C (p.Gln1378His)
c.3978A>C (p.Gln1326His)
c.4101A>C (p.Gln1367His)
n.612-19432T>G
c.3747A>C (p.Gln1249His)
c.3390A>C (p.Gln1130His)
2g.166228764T>ACA349063461SCN1A-AS1,SCN9Ac.4133A>T (p.Gln1378Leu)
c.3977A>T (p.Gln1326Leu)
c.4100A>T (p.Gln1367Leu)
n.612-19431T>A
c.3746A>T (p.Gln1249Leu)
c.3389A>T (p.Gln1130Leu)
2g.166228764T>CCA349063462SCN1A-AS1,SCN9Ac.4133A>G (p.Gln1378Arg)
c.3977A>G (p.Gln1326Arg)
c.4100A>G (p.Gln1367Arg)
n.612-19431T>C
c.3746A>G (p.Gln1249Arg)
c.3389A>G (p.Gln1130Arg)
2g.166228764T>GCA349063463SCN1A-AS1,SCN9Ac.4133A>C (p.Gln1378Pro)
c.3977A>C (p.Gln1326Pro)
c.4100A>C (p.Gln1367Pro)
n.612-19431T>G
c.3746A>C (p.Gln1249Pro)
c.3389A>C (p.Gln1130Pro)
2g.166228765G>ACA349063464SCN1A-AS1,SCN9Ac.4132C>T (p.Gln1378Ter)
c.3976C>T (p.Gln1326Ter)
c.4099C>T (p.Gln1367Ter)
n.612-19430G>A
c.3745C>T (p.Gln1249Ter)
c.3388C>T (p.Gln1130Ter)
 dbSNP
2g.166228765G>CCA349063465SCN1A-AS1,SCN9Ac.4132C>G (p.Gln1378Glu)
c.3976C>G (p.Gln1326Glu)
c.4099C>G (p.Gln1367Glu)
n.612-19430G>C
c.3745C>G (p.Gln1249Glu)
c.3388C>G (p.Gln1130Glu)
2g.166228765G=CA1304943627SCN1A-AS1,SCN9Ac.4132C= (p.Gln1378=)
c.3976C= (p.Gln1326=)
c.4099C= (p.Gln1367=)
n.612-19430G=
c.3745C= (p.Gln1249=)
c.3388C= (p.Gln1130=)
2g.166228765G>TCA349063466SCN1A-AS1,SCN9Ac.4132C>A (p.Gln1378Lys)
c.3976C>A (p.Gln1326Lys)
c.4099C>A (p.Gln1367Lys)
n.612-19430G>T
c.3745C>A (p.Gln1249Lys)
c.3388C>A (p.Gln1130Lys)
2g.166228766A>CCA349063469SCN1A-AS1,SCN9Ac.4131T>G (p.Ser1377Arg)
c.3975T>G (p.Ser1325Arg)
c.4098T>G (p.Ser1366Arg)
n.612-19429A>C
c.3744T>G (p.Ser1248Arg)
c.3387T>G (p.Ser1129Arg)
2g.166228766A>GCA429899137SCN1A-AS1,SCN9Ac.4131T>C (p.Ser1377=)
c.3975T>C (p.Ser1325=)
c.4098T>C (p.Ser1366=)
n.612-19429A>G
c.3744T>C (p.Ser1248=)
c.3387T>C (p.Ser1129=)
2g.166228766A>TCA349063467SCN1A-AS1,SCN9Ac.4131T>A (p.Ser1377Arg)
c.3975T>A (p.Ser1325Arg)
c.4098T>A (p.Ser1366Arg)
n.612-19429A>T
c.3744T>A (p.Ser1248Arg)
c.3387T>A (p.Ser1129Arg)
2g.166228767C>ACA349063470SCN1A-AS1,SCN9Ac.4130G>T (p.Ser1377Ile)
c.3974G>T (p.Ser1325Ile)
c.4097G>T (p.Ser1366Ile)
n.612-19428C>A
c.3743G>T (p.Ser1248Ile)
c.3386G>T (p.Ser1129Ile)
2g.166228767C=CA1304943628SCN1A-AS1,SCN9Ac.4130G= (p.Ser1377=)
c.3974G= (p.Ser1325=)
c.4097G= (p.Ser1366=)
n.612-19428C=
c.3743G= (p.Ser1248=)
c.3386G= (p.Ser1129=)
2g.166228767C>GCA349063471SCN1A-AS1,SCN9Ac.4130G>C (p.Ser1377Thr)
c.3974G>C (p.Ser1325Thr)
c.4097G>C (p.Ser1366Thr)
n.612-19428C>G
c.3743G>C (p.Ser1248Thr)
c.3386G>C (p.Ser1129Thr)
2g.166228767C>TCA349063473SCN1A-AS1,SCN9Ac.4130G>A (p.Ser1377Asn)
c.3974G>A (p.Ser1325Asn)
c.4097G>A (p.Ser1366Asn)
n.612-19428C>T
c.3743G>A (p.Ser1248Asn)
c.3386G>A (p.Ser1129Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.166228768T>ACA349063475SCN1A-AS1,SCN9Ac.4129A>T (p.Ser1377Cys)
c.3973A>T (p.Ser1325Cys)
c.4096A>T (p.Ser1366Cys)
n.612-19427T>A
c.3742A>T (p.Ser1248Cys)
c.3385A>T (p.Ser1129Cys)
2g.166228768T>CCA349063476SCN1A-AS1,SCN9Ac.4129A>G (p.Ser1377Gly)
c.3973A>G (p.Ser1325Gly)
c.4096A>G (p.Ser1366Gly)
n.612-19427T>C
c.3742A>G (p.Ser1248Gly)
c.3385A>G (p.Ser1129Gly)
2g.166228768T>GCA349063477SCN1A-AS1,SCN9Ac.4129A>C (p.Ser1377Arg)
c.3973A>C (p.Ser1325Arg)
c.4096A>C (p.Ser1366Arg)
n.612-19427T>G
c.3742A>C (p.Ser1248Arg)
c.3385A>C (p.Ser1129Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.166228768T=CA1304943629SCN1A-AS1,SCN9Ac.4129A= (p.Ser1377=)
c.3973A= (p.Ser1325=)
c.4096A= (p.Ser1366=)
n.612-19427T=
c.3742A= (p.Ser1248=)
c.3385A= (p.Ser1129=)
2g.166228769A=CA1304943630SCN1A-AS1,SCN9Ac.4128T= (p.Val1376=)
c.3972T= (p.Val1324=)
c.4095T= (p.Val1365=)
n.612-19426A=
c.3741T= (p.Val1247=)
c.3384T= (p.Val1128=)
2g.166228769A>CCA429899140SCN1A-AS1,SCN9Ac.4128T>G (p.Val1376=)
c.3972T>G (p.Val1324=)
c.4095T>G (p.Val1365=)
n.612-19426A>C
c.3741T>G (p.Val1247=)
c.3384T>G (p.Val1128=)
 gnomAD v4
2g.166228769A>GCA429899141SCN1A-AS1,SCN9Ac.4128T>C (p.Val1376=)
c.3972T>C (p.Val1324=)
c.4095T>C (p.Val1365=)
n.612-19426A>G
c.3741T>C (p.Val1247=)
c.3384T>C (p.Val1128=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166228769A>TCA429899142SCN1A-AS1,SCN9Ac.4128T>A (p.Val1376=)
c.3972T>A (p.Val1324=)
c.4095T>A (p.Val1365=)
n.612-19426A>T
c.3741T>A (p.Val1247=)
c.3384T>A (p.Val1128=)
2g.166228776_166228792delCA2661765422SCN1A-AS1,SCN9Ac.4112_4128del (p.Phe1371Ter)
c.3956_3972del (p.Phe1319Ter)
c.4079_4095del (p.Phe1360Ter)
n.612-19419_612-19403del
c.3725_3741del (p.Phe1242Ter)
c.3368_3384del (p.Phe1123Ter)
 gnomAD v4
2g.166228770A>CCA349063478SCN1A-AS1,SCN9Ac.4127T>G (p.Val1376Gly)
c.3971T>G (p.Val1324Gly)
c.4094T>G (p.Val1365Gly)
n.612-19425A>C
c.3740T>G (p.Val1247Gly)
c.3383T>G (p.Val1128Gly)
2g.166228770A>GCA349063481SCN1A-AS1,SCN9Ac.4127T>C (p.Val1376Ala)
c.3971T>C (p.Val1324Ala)
c.4094T>C (p.Val1365Ala)
n.612-19425A>G
c.3740T>C (p.Val1247Ala)
c.3383T>C (p.Val1128Ala)
 COSMIC COSMIC
2g.166228770A>TCA349063480SCN1A-AS1,SCN9Ac.4127T>A (p.Val1376Asp)
c.3971T>A (p.Val1324Asp)
c.4094T>A (p.Val1365Asp)
n.612-19425A>T
c.3740T>A (p.Val1247Asp)
c.3383T>A (p.Val1128Asp)
2g.166228771C>ACA349063482SCN1A-AS1,SCN9Ac.4126G>T (p.Val1376Phe)
c.3970G>T (p.Val1324Phe)
c.4093G>T (p.Val1365Phe)
n.612-19424C>A
c.3739G>T (p.Val1247Phe)
c.3382G>T (p.Val1128Phe)
2g.166228771C=CA1304943631SCN1A-AS1,SCN9Ac.4126G= (p.Val1376=)
c.3970G= (p.Val1324=)
c.4093G= (p.Val1365=)
n.612-19424C=
c.3739G= (p.Val1247=)
c.3382G= (p.Val1128=)
2g.166228771C>GCA349063483SCN1A-AS1,SCN9Ac.4126G>C (p.Val1376Leu)
c.3970G>C (p.Val1324Leu)
c.4093G>C (p.Val1365Leu)
n.612-19424C>G
c.3739G>C (p.Val1247Leu)
c.3382G>C (p.Val1128Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.166228771C>TCA349063484SCN1A-AS1,SCN9Ac.4126G>A (p.Val1376Ile)
c.3970G>A (p.Val1324Ile)
c.4093G>A (p.Val1365Ile)
n.612-19424C>T
c.3739G>A (p.Val1247Ile)
c.3382G>A (p.Val1128Ile)
 ClinVar
2g.166228772A>CCA349063486SCN1A-AS1,SCN9Ac.4125T>G (p.Asn1375Lys)
c.3969T>G (p.Asn1323Lys)
c.4092T>G (p.Asn1364Lys)
n.612-19423A>C
c.3738T>G (p.Asn1246Lys)
c.3381T>G (p.Asn1127Lys)
2g.166228772A>GCA429899147SCN1A-AS1,SCN9Ac.4125T>C (p.Asn1375=)
c.3969T>C (p.Asn1323=)
c.4092T>C (p.Asn1364=)
n.612-19423A>G
c.3738T>C (p.Asn1246=)
c.3381T>C (p.Asn1127=)
2g.166228772A>TCA349063488SCN1A-AS1,SCN9Ac.4125T>A (p.Asn1375Lys)
c.3969T>A (p.Asn1323Lys)
c.4092T>A (p.Asn1364Lys)
n.612-19423A>T
c.3738T>A (p.Asn1246Lys)
c.3381T>A (p.Asn1127Lys)
2g.166228773T>ACA349063490SCN1A-AS1,SCN9Ac.4124A>T (p.Asn1375Ile)
c.3968A>T (p.Asn1323Ile)
c.4091A>T (p.Asn1364Ile)
n.612-19422T>A
c.3737A>T (p.Asn1246Ile)
c.3380A>T (p.Asn1127Ile)
2g.166228773T>CCA1943946SCN1A-AS1,SCN9Ac.4124A>G (p.Asn1375Ser)
c.3968A>G (p.Asn1323Ser)
c.4091A>G (p.Asn1364Ser)
n.612-19422T>C
c.3737A>G (p.Asn1246Ser)
c.3380A>G (p.Asn1127Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228773T>GCA349063491SCN1A-AS1,SCN9Ac.4124A>C (p.Asn1375Thr)
c.3968A>C (p.Asn1323Thr)
c.4091A>C (p.Asn1364Thr)
n.612-19422T>G
c.3737A>C (p.Asn1246Thr)
c.3380A>C (p.Asn1127Thr)
2g.166228773T=CA1304943632SCN1A-AS1,SCN9Ac.4124A= (p.Asn1375=)
c.3968A= (p.Asn1323=)
c.4091A= (p.Asn1364=)
n.612-19422T=
c.3737A= (p.Asn1246=)
c.3380A= (p.Asn1127=)
2g.166228774T>ACA349063494SCN1A-AS1,SCN9Ac.4123A>T (p.Asn1375Tyr)
c.3967A>T (p.Asn1323Tyr)
c.4090A>T (p.Asn1364Tyr)
n.612-19421T>A
c.3736A>T (p.Asn1246Tyr)
c.3379A>T (p.Asn1127Tyr)
2g.166228774T>CCA349063496SCN1A-AS1,SCN9Ac.4123A>G (p.Asn1375Asp)
c.3967A>G (p.Asn1323Asp)
c.4090A>G (p.Asn1364Asp)
n.612-19421T>C
c.3736A>G (p.Asn1246Asp)
c.3379A>G (p.Asn1127Asp)
2g.166228774T>GCA349063497SCN1A-AS1,SCN9Ac.4123A>C (p.Asn1375His)
c.3967A>C (p.Asn1323His)
c.4090A>C (p.Asn1364His)
n.612-19421T>G
c.3736A>C (p.Asn1246His)
c.3379A>C (p.Asn1127His)
2g.166228775C>ACA349063502SCN1A-AS1,SCN9Ac.4122G>T (p.Met1374Ile)
c.3966G>T (p.Met1322Ile)
c.4089G>T (p.Met1363Ile)
n.612-19420C>A
c.3735G>T (p.Met1245Ile)
c.3378G>T (p.Met1126Ile)
 gnomAD v4
2g.166228775C=CA1304943633SCN1A-AS1,SCN9Ac.4122G= (p.Met1374=)
c.3966G= (p.Met1322=)
c.4089G= (p.Met1363=)
n.612-19420C=
c.3735G= (p.Met1245=)
c.3378G= (p.Met1126=)
2g.166228775C>GCA349063500SCN1A-AS1,SCN9Ac.4122G>C (p.Met1374Ile)
c.3966G>C (p.Met1322Ile)
c.4089G>C (p.Met1363Ile)
n.612-19420C>G
c.3735G>C (p.Met1245Ile)
c.3378G>C (p.Met1126Ile)
2g.166228775C>TCA1943947SCN1A-AS1,SCN9Ac.4122G>A (p.Met1374Ile)
c.3966G>A (p.Met1322Ile)
c.4089G>A (p.Met1363Ile)
n.612-19420C>T
c.3735G>A (p.Met1245Ile)
c.3378G>A (p.Met1126Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166228776A>CCA349063505SCN1A-AS1,SCN9Ac.4121T>G (p.Met1374Arg)
c.3965T>G (p.Met1322Arg)
c.4088T>G (p.Met1363Arg)
n.612-19419A>C
c.3734T>G (p.Met1245Arg)
c.3377T>G (p.Met1126Arg)
2g.166228776A>GCA349063504SCN1A-AS1,SCN9Ac.4121T>C (p.Met1374Thr)
c.3965T>C (p.Met1322Thr)
c.4088T>C (p.Met1363Thr)
n.612-19419A>G
c.3734T>C (p.Met1245Thr)
c.3377T>C (p.Met1126Thr)
 ClinVar gnomAD v4
2g.166228776A>TCA349063506SCN1A-AS1,SCN9Ac.4121T>A (p.Met1374Lys)
c.3965T>A (p.Met1322Lys)
c.4088T>A (p.Met1363Lys)
n.612-19419A>T
c.3734T>A (p.Met1245Lys)
c.3377T>A (p.Met1126Lys)
2g.166228777T>ACA59810264SCN1A-AS1,SCN9Ac.4120A>T (p.Met1374Leu)
c.3964A>T (p.Met1322Leu)
c.4087A>T (p.Met1363Leu)
n.612-19418T>A
c.3733A>T (p.Met1245Leu)
c.3376A>T (p.Met1126Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166228777T>CCA349063509SCN1A-AS1,SCN9Ac.4120A>G (p.Met1374Val)
c.3964A>G (p.Met1322Val)
c.4087A>G (p.Met1363Val)
n.612-19418T>C
c.3733A>G (p.Met1245Val)
c.3376A>G (p.Met1126Val)
2g.166228777T>GCA349063508SCN1A-AS1,SCN9Ac.4120A>C (p.Met1374Leu)
c.3964A>C (p.Met1322Leu)
c.4087A>C (p.Met1363Leu)
n.612-19418T>G
c.3733A>C (p.Met1245Leu)
c.3376A>C (p.Met1126Leu)
 ClinVar dbSNP
2g.166228777T=CA1304943634SCN1A-AS1,SCN9Ac.4120A= (p.Met1374=)
c.3964A= (p.Met1322=)
c.4087A= (p.Met1363=)
n.612-19418T=
c.3733A= (p.Met1245=)
c.3376A= (p.Met1126=)
2g.166228778A>CCA429899155SCN1A-AS1,SCN9Ac.4119T>G (p.Leu1373=)
c.3963T>G (p.Leu1321=)
c.4086T>G (p.Leu1362=)
n.612-19417A>C
c.3732T>G (p.Leu1244=)
c.3375T>G (p.Leu1125=)
2g.166228778A>GCA429899156SCN1A-AS1,SCN9Ac.4119T>C (p.Leu1373=)
c.3963T>C (p.Leu1321=)
c.4086T>C (p.Leu1362=)
n.612-19417A>G
c.3732T>C (p.Leu1244=)
c.3375T>C (p.Leu1125=)
2g.166228778A>TCA429899157SCN1A-AS1,SCN9Ac.4119T>A (p.Leu1373=)
c.3963T>A (p.Leu1321=)
c.4086T>A (p.Leu1362=)
n.612-19417A>T
c.3732T>A (p.Leu1244=)
c.3375T>A (p.Leu1125=)
2g.166228779A>CCA349063512SCN1A-AS1,SCN9Ac.4118T>G (p.Leu1373Arg)
c.3962T>G (p.Leu1321Arg)
c.4085T>G (p.Leu1362Arg)
n.612-19416A>C
c.3731T>G (p.Leu1244Arg)
c.3374T>G (p.Leu1125Arg)
2g.166228779A>GCA349063513SCN1A-AS1,SCN9Ac.4118T>C (p.Leu1373Pro)
c.3962T>C (p.Leu1321Pro)
c.4085T>C (p.Leu1362Pro)
n.612-19416A>G
c.3731T>C (p.Leu1244Pro)
c.3374T>C (p.Leu1125Pro)
2g.166228779A>TCA349063515SCN1A-AS1,SCN9Ac.4118T>A (p.Leu1373His)
c.3962T>A (p.Leu1321His)
c.4085T>A (p.Leu1362His)
n.612-19416A>T
c.3731T>A (p.Leu1244His)
c.3374T>A (p.Leu1125His)
2g.166228780G>ACA1943948SCN1A-AS1,SCN9Ac.4117C>T (p.Leu1373Phe)
c.3961C>T (p.Leu1321Phe)
c.4084C>T (p.Leu1362Phe)
n.612-19415G>A
c.3730C>T (p.Leu1244Phe)
c.3373C>T (p.Leu1125Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228780G>CCA349063518SCN1A-AS1,SCN9Ac.4117C>G (p.Leu1373Val)
c.3961C>G (p.Leu1321Val)
c.4084C>G (p.Leu1362Val)
n.612-19415G>C
c.3730C>G (p.Leu1244Val)
c.3373C>G (p.Leu1125Val)
2g.166228780G=CA1304943635SCN1A-AS1,SCN9Ac.4117C= (p.Leu1373=)
c.3961C= (p.Leu1321=)
c.4084C= (p.Leu1362=)
n.612-19415G=
c.3730C= (p.Leu1244=)
c.3373C= (p.Leu1125=)
2g.166228780G>TCA349063520SCN1A-AS1,SCN9Ac.4117C>A (p.Leu1373Ile)
c.3961C>A (p.Leu1321Ile)
c.4084C>A (p.Leu1362Ile)
n.612-19415G>T
c.3730C>A (p.Leu1244Ile)
c.3373C>A (p.Leu1125Ile)
2g.166228781G>ACA429899164SCN1A-AS1,SCN9Ac.4116C>T (p.Ala1372=)
c.3960C>T (p.Ala1320=)
c.4083C>T (p.Ala1361=)
n.612-19414G>A
c.3729C>T (p.Ala1243=)
c.3372C>T (p.Ala1124=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166228781G>CCA429899166SCN1A-AS1,SCN9Ac.4116C>G (p.Ala1372=)
c.3960C>G (p.Ala1320=)
c.4083C>G (p.Ala1361=)
n.612-19414G>C
c.3729C>G (p.Ala1243=)
c.3372C>G (p.Ala1124=)
 gnomAD v4
2g.166228781G=CA1304943636SCN1A-AS1,SCN9Ac.4116C= (p.Ala1372=)
c.3960C= (p.Ala1320=)
c.4083C= (p.Ala1361=)
n.612-19414G=
c.3729C= (p.Ala1243=)
c.3372C= (p.Ala1124=)
2g.166228781G>TCA429899167SCN1A-AS1,SCN9Ac.4116C>A (p.Ala1372=)
c.3960C>A (p.Ala1320=)
c.4083C>A (p.Ala1361=)
n.612-19414G>T
c.3729C>A (p.Ala1243=)
c.3372C>A (p.Ala1124=)
2g.166228782G>ACA349063523SCN1A-AS1,SCN9Ac.4115C>T (p.Ala1372Val)
c.3959C>T (p.Ala1320Val)
c.4082C>T (p.Ala1361Val)
n.612-19413G>A
c.3728C>T (p.Ala1243Val)
c.3371C>T (p.Ala1124Val)
2g.166228782G>CCA349063525SCN1A-AS1,SCN9Ac.4115C>G (p.Ala1372Gly)
c.3959C>G (p.Ala1320Gly)
c.4082C>G (p.Ala1361Gly)
n.612-19413G>C
c.3728C>G (p.Ala1243Gly)
c.3371C>G (p.Ala1124Gly)
2g.166228782G>TCA349063527SCN1A-AS1,SCN9Ac.4115C>A (p.Ala1372Asp)
c.3959C>A (p.Ala1320Asp)
c.4082C>A (p.Ala1361Asp)
n.612-19413G>T
c.3728C>A (p.Ala1243Asp)
c.3371C>A (p.Ala1124Asp)
2g.166228783C>ACA349063528SCN1A-AS1,SCN9Ac.4114G>T (p.Ala1372Ser)
c.3958G>T (p.Ala1320Ser)
c.4081G>T (p.Ala1361Ser)
n.612-19412C>A
c.3727G>T (p.Ala1243Ser)
c.3370G>T (p.Ala1124Ser)
2g.166228783C>GCA349063529SCN1A-AS1,SCN9Ac.4114G>C (p.Ala1372Pro)
c.3958G>C (p.Ala1320Pro)
c.4081G>C (p.Ala1361Pro)
n.612-19412C>G
c.3727G>C (p.Ala1243Pro)
c.3370G>C (p.Ala1124Pro)
2g.166228783C>TCA349063530SCN1A-AS1,SCN9Ac.4114G>A (p.Ala1372Thr)
c.3958G>A (p.Ala1320Thr)
c.4081G>A (p.Ala1361Thr)
n.612-19412C>T
c.3727G>A (p.Ala1243Thr)
c.3370G>A (p.Ala1124Thr)
2g.166228784A>CCA349063532SCN1A-AS1,SCN9Ac.4113T>G (p.Phe1371Leu)
c.3957T>G (p.Phe1319Leu)
c.4080T>G (p.Phe1360Leu)
n.612-19411A>C
c.3726T>G (p.Phe1242Leu)
c.3369T>G (p.Phe1123Leu)
2g.166228784A>GCA429899172SCN1A-AS1,SCN9Ac.4113T>C (p.Phe1371=)
c.3957T>C (p.Phe1319=)
c.4080T>C (p.Phe1360=)
n.612-19411A>G
c.3726T>C (p.Phe1242=)
c.3369T>C (p.Phe1123=)
2g.166228784A>TCA349063534SCN1A-AS1,SCN9Ac.4113T>A (p.Phe1371Leu)
c.3957T>A (p.Phe1319Leu)
c.4080T>A (p.Phe1360Leu)
n.612-19411A>T
c.3726T>A (p.Phe1242Leu)
c.3369T>A (p.Phe1123Leu)
2g.166228785A=CA1304943637SCN1A-AS1,SCN9Ac.4112T= (p.Phe1371=)
c.3956T= (p.Phe1319=)
c.4079T= (p.Phe1360=)
n.612-19410A=
c.3725T= (p.Phe1242=)
c.3368T= (p.Phe1123=)
2g.166228785A>CCA349063536SCN1A-AS1,SCN9Ac.4112T>G (p.Phe1371Cys)
c.3956T>G (p.Phe1319Cys)
c.4079T>G (p.Phe1360Cys)
n.612-19410A>C
c.3725T>G (p.Phe1242Cys)
c.3368T>G (p.Phe1123Cys)
2g.166228785A>GCA349063539SCN1A-AS1,SCN9Ac.4112T>C (p.Phe1371Ser)
c.3956T>C (p.Phe1319Ser)
c.4079T>C (p.Phe1360Ser)
n.612-19410A>G
c.3725T>C (p.Phe1242Ser)
c.3368T>C (p.Phe1123Ser)
 ClinVar dbSNP
2g.166228785A>TCA349063541SCN1A-AS1,SCN9Ac.4112T>A (p.Phe1371Tyr)
c.3956T>A (p.Phe1319Tyr)
c.4079T>A (p.Phe1360Tyr)
n.612-19410A>T
c.3725T>A (p.Phe1242Tyr)
c.3368T>A (p.Phe1123Tyr)
2g.166228786A>CCA349063544SCN1A-AS1,SCN9Ac.4111T>G (p.Phe1371Val)
c.3955T>G (p.Phe1319Val)
c.4078T>G (p.Phe1360Val)
n.612-19409A>C
c.3724T>G (p.Phe1242Val)
c.3367T>G (p.Phe1123Val)
2g.166228786A>GCA349063546SCN1A-AS1,SCN9Ac.4111T>C (p.Phe1371Leu)
c.3955T>C (p.Phe1319Leu)
c.4078T>C (p.Phe1360Leu)
n.612-19409A>G
c.3724T>C (p.Phe1242Leu)
c.3367T>C (p.Phe1123Leu)
2g.166228786A>TCA349063548SCN1A-AS1,SCN9Ac.4111T>A (p.Phe1371Ile)
c.3955T>A (p.Phe1319Ile)
c.4078T>A (p.Phe1360Ile)
n.612-19409A>T
c.3724T>A (p.Phe1242Ile)
c.3367T>A (p.Phe1123Ile)
2g.166228787A=CA1304943638SCN1A-AS1,SCN9Ac.4110T= (p.Cys1370=)
c.3954T= (p.Cys1318=)
c.4077T= (p.Cys1359=)
n.612-19408A=
c.3723T= (p.Cys1241=)
c.3366T= (p.Cys1122=)
2g.166228787A>CCA349063550SCN1A-AS1,SCN9Ac.4110T>G (p.Cys1370Trp)
c.3954T>G (p.Cys1318Trp)
c.4077T>G (p.Cys1359Trp)
n.612-19408A>C
c.3723T>G (p.Cys1241Trp)
c.3366T>G (p.Cys1122Trp)
2g.166228787A>GCA1943949SCN1A-AS1,SCN9Ac.4110T>C (p.Cys1370=)
c.3954T>C (p.Cys1318=)
c.4077T>C (p.Cys1359=)
n.612-19408A>G
c.3723T>C (p.Cys1241=)
c.3366T>C (p.Cys1122=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228787A>TCA349063553SCN1A-AS1,SCN9Ac.4110T>A (p.Cys1370Ter)
c.3954T>A (p.Cys1318Ter)
c.4077T>A (p.Cys1359Ter)
n.612-19408A>T
c.3723T>A (p.Cys1241Ter)
c.3366T>A (p.Cys1122Ter)
 dbSNP
2g.166228788C>ACA349063555SCN1A-AS1,SCN9Ac.4109G>T (p.Cys1370Phe)
c.3953G>T (p.Cys1318Phe)
c.4076G>T (p.Cys1359Phe)
n.612-19407C>A
c.3722G>T (p.Cys1241Phe)
c.3365G>T (p.Cys1122Phe)
2g.166228788C=CA1304943639SCN1A-AS1,SCN9Ac.4109G= (p.Cys1370=)
c.3953G= (p.Cys1318=)
c.4076G= (p.Cys1359=)
n.612-19407C=
c.3722G= (p.Cys1241=)
c.3365G= (p.Cys1122=)
2g.166228788C>GCA349063558SCN1A-AS1,SCN9Ac.4109G>C (p.Cys1370Ser)
c.3953G>C (p.Cys1318Ser)
c.4076G>C (p.Cys1359Ser)
n.612-19407C>G
c.3722G>C (p.Cys1241Ser)
c.3365G>C (p.Cys1122Ser)
2g.166228788C>TCA349063560SCN1A-AS1,SCN9Ac.4109G>A (p.Cys1370Tyr)
c.3953G>A (p.Cys1318Tyr)
c.4076G>A (p.Cys1359Tyr)
n.612-19407C>T
c.3722G>A (p.Cys1241Tyr)
c.3365G>A (p.Cys1122Tyr)
 dbSNP gnomAD v2
2g.166228789A>CCA349063563SCN1A-AS1,SCN9Ac.4108T>G (p.Cys1370Gly)
c.3952T>G (p.Cys1318Gly)
c.4075T>G (p.Cys1359Gly)
n.612-19406A>C
c.3721T>G (p.Cys1241Gly)
c.3364T>G (p.Cys1122Gly)
2g.166228789A>GCA349063567SCN1A-AS1,SCN9Ac.4108T>C (p.Cys1370Arg)
c.3952T>C (p.Cys1318Arg)
c.4075T>C (p.Cys1359Arg)
n.612-19406A>G
c.3721T>C (p.Cys1241Arg)
c.3364T>C (p.Cys1122Arg)
2g.166228789A>TCA349063565SCN1A-AS1,SCN9Ac.4108T>A (p.Cys1370Ser)
c.3952T>A (p.Cys1318Ser)
c.4075T>A (p.Cys1359Ser)
n.612-19406A>T
c.3721T>A (p.Cys1241Ser)
c.3364T>A (p.Cys1122Ser)
2g.166228790T>ACA349063568SCN1A-AS1,SCN9Ac.4107A>T (p.Glu1369Asp)
c.3951A>T (p.Glu1317Asp)
c.4074A>T (p.Glu1358Asp)
n.612-19405T>A
c.3720A>T (p.Glu1240Asp)
c.3363A>T (p.Glu1121Asp)
2g.166228790T>CCA1943950SCN1A-AS1,SCN9Ac.4107A>G (p.Glu1369=)
c.3951A>G (p.Glu1317=)
c.4074A>G (p.Glu1358=)
n.612-19405T>C
c.3720A>G (p.Glu1240=)
c.3363A>G (p.Glu1121=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166228790T>GCA349063570SCN1A-AS1,SCN9Ac.4107A>C (p.Glu1369Asp)
c.3951A>C (p.Glu1317Asp)
c.4074A>C (p.Glu1358Asp)
n.612-19405T>G
c.3720A>C (p.Glu1240Asp)
c.3363A>C (p.Glu1121Asp)
2g.166228790T=CA1304943640SCN1A-AS1,SCN9Ac.4107A= (p.Glu1369=)
c.3951A= (p.Glu1317=)
c.4074A= (p.Glu1358=)
n.612-19405T=
c.3720A= (p.Glu1240=)
c.3363A= (p.Glu1121=)
2g.166228791delCA2661765423SCN1A-AS1,SCN9Ac.4107del (p.Glu1369AspfsTer6)
c.3951del (p.Glu1317AspfsTer6)
c.4074del (p.Glu1358AspfsTer6)
n.612-19404del
c.3720del (p.Glu1240AspfsTer6)
c.3363del (p.Glu1121AspfsTer6)
 gnomAD v4
2g.166228791T>ACA349063573SCN1A-AS1,SCN9Ac.4106A>T (p.Glu1369Val)
c.3950A>T (p.Glu1317Val)
c.4073A>T (p.Glu1358Val)
n.612-19404T>A
c.3719A>T (p.Glu1240Val)
c.3362A>T (p.Glu1121Val)
2g.166228791T>CCA349063575SCN1A-AS1,SCN9Ac.4106A>G (p.Glu1369Gly)
c.3950A>G (p.Glu1317Gly)
c.4073A>G (p.Glu1358Gly)
n.612-19404T>C
c.3719A>G (p.Glu1240Gly)
c.3362A>G (p.Glu1121Gly)
2g.166228791T>GCA349063578SCN1A-AS1,SCN9Ac.4106A>C (p.Glu1369Ala)
c.3950A>C (p.Glu1317Ala)
c.4073A>C (p.Glu1358Ala)
n.612-19404T>G
c.3719A>C (p.Glu1240Ala)
c.3362A>C (p.Glu1121Ala)
 gnomAD v4
2g.166228792C>ACA349063581SCN1A-AS1,SCN9Ac.4105G>T (p.Glu1369Ter)
c.3949G>T (p.Glu1317Ter)
c.4072G>T (p.Glu1358Ter)
n.612-19403C>A
c.3718G>T (p.Glu1240Ter)
c.3361G>T (p.Glu1121Ter)
 dbSNP gnomAD v4
2g.166228792C=CA1304943641SCN1A-AS1,SCN9Ac.4105G= (p.Glu1369=)
c.3949G= (p.Glu1317=)
c.4072G= (p.Glu1358=)
n.612-19403C=
c.3718G= (p.Glu1240=)
c.3361G= (p.Glu1121=)
2g.166228792C>GCA349063582SCN1A-AS1,SCN9Ac.4105G>C (p.Glu1369Gln)
c.3949G>C (p.Glu1317Gln)
c.4072G>C (p.Glu1358Gln)
n.612-19403C>G
c.3718G>C (p.Glu1240Gln)
c.3361G>C (p.Glu1121Gln)
2g.166228792C>TCA349063585SCN1A-AS1,SCN9Ac.4105G>A (p.Glu1369Lys)
c.3949G>A (p.Glu1317Lys)
c.4072G>A (p.Glu1358Lys)
n.612-19403C>T
c.3718G>A (p.Glu1240Lys)
c.3361G>A (p.Glu1121Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166228793G>ACA429899179SCN1A-AS1,SCN9Ac.4104C>T (p.Ser1368=)
c.3948C>T (p.Ser1316=)
c.4071C>T (p.Ser1357=)
n.612-19402G>A
c.3717C>T (p.Ser1239=)
c.3360C>T (p.Ser1120=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.166228793G>CCA429899180SCN1A-AS1,SCN9Ac.4104C>G (p.Ser1368=)
c.3948C>G (p.Ser1316=)
c.4071C>G (p.Ser1357=)
n.612-19402G>C
c.3717C>G (p.Ser1239=)
c.3360C>G (p.Ser1120=)
 dbSNP
2g.166228793G=CA1304943642SCN1A-AS1,SCN9Ac.4104C= (p.Ser1368=)
c.3948C= (p.Ser1316=)
c.4071C= (p.Ser1357=)
n.612-19402G=
c.3717C= (p.Ser1239=)
c.3360C= (p.Ser1120=)
2g.166228793G>TCA429899181SCN1A-AS1,SCN9Ac.4104C>A (p.Ser1368=)
c.3948C>A (p.Ser1316=)
c.4071C>A (p.Ser1357=)
n.612-19402G>T
c.3717C>A (p.Ser1239=)
c.3360C>A (p.Ser1120=)
2g.166228794G>ACA349063587SCN1A-AS1,SCN9Ac.4103C>T (p.Ser1368Phe)
c.3947C>T (p.Ser1316Phe)
c.4070C>T (p.Ser1357Phe)
n.612-19401G>A
c.3716C>T (p.Ser1239Phe)
c.3359C>T (p.Ser1120Phe)
 COSMIC COSMIC
2g.166228794G>CCA349063588SCN1A-AS1,SCN9Ac.4103C>G (p.Ser1368Cys)
c.3947C>G (p.Ser1316Cys)
c.4070C>G (p.Ser1357Cys)
n.612-19401G>C
c.3716C>G (p.Ser1239Cys)
c.3359C>G (p.Ser1120Cys)
2g.166228794G>TCA349063590SCN1A-AS1,SCN9Ac.4103C>A (p.Ser1368Tyr)
c.3947C>A (p.Ser1316Tyr)
c.4070C>A (p.Ser1357Tyr)
n.612-19401G>T
c.3716C>A (p.Ser1239Tyr)
c.3359C>A (p.Ser1120Tyr)
 gnomAD v4
2g.166228795A=CA1304943643SCN1A-AS1,SCN9Ac.4102T= (p.Ser1368=)
c.3946T= (p.Ser1316=)
c.4069T= (p.Ser1357=)
n.612-19400A=
c.3715T= (p.Ser1239=)
c.3358T= (p.Ser1120=)
2g.166228795A>CCA349063598SCN1A-AS1,SCN9Ac.4102T>G (p.Ser1368Ala)
c.3946T>G (p.Ser1316Ala)
c.4069T>G (p.Ser1357Ala)
n.612-19400A>C
c.3715T>G (p.Ser1239Ala)
c.3358T>G (p.Ser1120Ala)
2g.166228795A>GCA349063593SCN1A-AS1,SCN9Ac.4102T>C (p.Ser1368Pro)
c.3946T>C (p.Ser1316Pro)
c.4069T>C (p.Ser1357Pro)
n.612-19400A>G
c.3715T>C (p.Ser1239Pro)
c.3358T>C (p.Ser1120Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166228795A>TCA349063596SCN1A-AS1,SCN9Ac.4102T>A (p.Ser1368Thr)
c.3946T>A (p.Ser1316Thr)
c.4069T>A (p.Ser1357Thr)
n.612-19400A>T
c.3715T>A (p.Ser1239Thr)
c.3358T>A (p.Ser1120Thr)
2g.166228796A=CA1304943644SCN1A-AS1,SCN9Ac.4101T= (p.Arg1367=)
c.3945T= (p.Arg1315=)
c.4068T= (p.Arg1356=)
n.612-19399A=
c.3714T= (p.Arg1238=)
c.3357T= (p.Arg1119=)
2g.166228796A>CCA429899186SCN1A-AS1,SCN9Ac.4101T>G (p.Arg1367=)
c.3945T>G (p.Arg1315=)
c.4068T>G (p.Arg1356=)
n.612-19399A>C
c.3714T>G (p.Arg1238=)
c.3357T>G (p.Arg1119=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166228796A>GCA429899187SCN1A-AS1,SCN9Ac.4101T>C (p.Arg1367=)
c.3945T>C (p.Arg1315=)
c.4068T>C (p.Arg1356=)
n.612-19399A>G
c.3714T>C (p.Arg1238=)
c.3357T>C (p.Arg1119=)
2g.166228796A>TCA429899188SCN1A-AS1,SCN9Ac.4101T>A (p.Arg1367=)
c.3945T>A (p.Arg1315=)
c.4068T>A (p.Arg1356=)
n.612-19399A>T
c.3714T>A (p.Arg1238=)
c.3357T>A (p.Arg1119=)
2g.166228797C>ACA349063601SCN1A-AS1,SCN9Ac.4100G>T (p.Arg1367Leu)
c.3944G>T (p.Arg1315Leu)
c.4067G>T (p.Arg1356Leu)
n.612-19398C>A
c.3713G>T (p.Arg1238Leu)
c.3356G>T (p.Arg1119Leu)
 gnomAD v4
2g.166228797C=CA1304943645SCN1A-AS1,SCN9Ac.4100G= (p.Arg1367=)
c.3944G= (p.Arg1315=)
c.4067G= (p.Arg1356=)
n.612-19398C=
c.3713G= (p.Arg1238=)
c.3356G= (p.Arg1119=)
2g.166228797C>GCA349063604SCN1A-AS1,SCN9Ac.4100G>C (p.Arg1367Pro)
c.3944G>C (p.Arg1315Pro)
c.4067G>C (p.Arg1356Pro)
n.612-19398C>G
c.3713G>C (p.Arg1238Pro)
c.3356G>C (p.Arg1119Pro)
2g.166228797C>TCA1943951SCN1A-AS1,SCN9Ac.4100G>A (p.Arg1367His)
c.3944G>A (p.Arg1315His)
c.4067G>A (p.Arg1356His)
n.612-19398C>T
c.3713G>A (p.Arg1238His)
c.3356G>A (p.Arg1119His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166228798G>ACA59810279SCN1A-AS1,SCN9Ac.4099C>T (p.Arg1367Cys)
c.3943C>T (p.Arg1315Cys)
c.4066C>T (p.Arg1356Cys)
n.612-19397G>A
c.3712C>T (p.Arg1238Cys)
c.3355C>T (p.Arg1119Cys)
 ClinVar dbSNP COSMIC COSMIC
2g.166228798G>CCA349063607SCN1A-AS1,SCN9Ac.4099C>G (p.Arg1367Gly)
c.3943C>G (p.Arg1315Gly)
c.4066C>G (p.Arg1356Gly)
n.612-19397G>C
c.3712C>G (p.Arg1238Gly)
c.3355C>G (p.Arg1119Gly)
2g.166228798G=CA1304943646SCN1A-AS1,SCN9Ac.4099C= (p.Arg1367=)
c.3943C= (p.Arg1315=)
c.4066C= (p.Arg1356=)
n.612-19397G=
c.3712C= (p.Arg1238=)
c.3355C= (p.Arg1119=)
2g.166228798G>TCA349063609SCN1A-AS1,SCN9Ac.4099C>A (p.Arg1367Ser)
c.3943C>A (p.Arg1315Ser)
c.4066C>A (p.Arg1356Ser)
n.612-19397G>T
c.3712C>A (p.Arg1238Ser)
c.3355C>A (p.Arg1119Ser)

Number of alleles fetched