Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166228854T>A | CA349064024 | SCN1A-AS1,SCN9A | c.4043A>T (p.Tyr1348Phe) c.3887A>T (p.Tyr1296Phe) c.4010A>T (p.Tyr1337Phe) n.612-19341T>A c.3656A>T (p.Tyr1219Phe) c.3299A>T (p.Tyr1100Phe) | gnomAD v4 |
2 | g.166228854T>C | CA231503 | SCN1A-AS1,SCN9A | c.4043A>G (p.Tyr1348Cys) c.3887A>G (p.Tyr1296Cys) c.4010A>G (p.Tyr1337Cys) n.612-19341T>C c.3656A>G (p.Tyr1219Cys) c.3299A>G (p.Tyr1100Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228854T>G | CA349064019 | SCN1A-AS1,SCN9A | c.4043A>C (p.Tyr1348Ser) c.3887A>C (p.Tyr1296Ser) c.4010A>C (p.Tyr1337Ser) n.612-19341T>G c.3656A>C (p.Tyr1219Ser) c.3299A>C (p.Tyr1100Ser) | |
2 | g.166228854T= | CA1304943679 | SCN1A-AS1,SCN9A | c.4043A= (p.Tyr1348=) c.3887A= (p.Tyr1296=) c.4010A= (p.Tyr1337=) n.612-19341T= c.3656A= (p.Tyr1219=) c.3299A= (p.Tyr1100=) | |
2 | g.166228855A>C | CA349064031 | SCN1A-AS1,SCN9A | c.4042T>G (p.Tyr1348Asp) c.3886T>G (p.Tyr1296Asp) c.4009T>G (p.Tyr1337Asp) n.612-19340A>C c.3655T>G (p.Tyr1219Asp) c.3298T>G (p.Tyr1100Asp) | |
2 | g.166228855A>G | CA349064035 | SCN1A-AS1,SCN9A | c.4042T>C (p.Tyr1348His) c.3886T>C (p.Tyr1296His) c.4009T>C (p.Tyr1337His) n.612-19340A>G c.3655T>C (p.Tyr1219His) c.3298T>C (p.Tyr1100His) | |
2 | g.166228855A>T | CA349064039 | SCN1A-AS1,SCN9A | c.4042T>A (p.Tyr1348Asn) c.3886T>A (p.Tyr1296Asn) c.4009T>A (p.Tyr1337Asn) n.612-19340A>T c.3655T>A (p.Tyr1219Asn) c.3298T>A (p.Tyr1100Asn) | |
2 | g.166228856G>A | CA429899256 | SCN1A-AS1,SCN9A | c.4041C>T (p.Phe1347=) c.3885C>T (p.Phe1295=) c.4008C>T (p.Phe1336=) n.612-19339G>A c.3654C>T (p.Phe1218=) c.3297C>T (p.Phe1099=) | dbSNP gnomAD v2 |
2 | g.166228856G>C | CA349064045 | SCN1A-AS1,SCN9A | c.4041C>G (p.Phe1347Leu) c.3885C>G (p.Phe1295Leu) c.4008C>G (p.Phe1336Leu) n.612-19339G>C c.3654C>G (p.Phe1218Leu) c.3297C>G (p.Phe1099Leu) | |
2 | g.166228856G= | CA1304943680 | SCN1A-AS1,SCN9A | c.4041C= (p.Phe1347=) c.3885C= (p.Phe1295=) c.4008C= (p.Phe1336=) n.612-19339G= c.3654C= (p.Phe1218=) c.3297C= (p.Phe1099=) | |
2 | g.166228856G>T | CA349064053 | SCN1A-AS1,SCN9A | c.4041C>A (p.Phe1347Leu) c.3885C>A (p.Phe1295Leu) c.4008C>A (p.Phe1336Leu) n.612-19339G>T c.3654C>A (p.Phe1218Leu) c.3297C>A (p.Phe1099Leu) | |
2 | g.166228857A= | CA1304943681 | SCN1A-AS1,SCN9A | c.4040T= (p.Phe1347=) c.3884T= (p.Phe1295=) c.4007T= (p.Phe1336=) n.612-19338A= c.3653T= (p.Phe1218=) c.3296T= (p.Phe1099=) | |
2 | g.166228857A>C | CA349064060 | SCN1A-AS1,SCN9A | c.4040T>G (p.Phe1347Cys) c.3884T>G (p.Phe1295Cys) c.4007T>G (p.Phe1336Cys) n.612-19338A>C c.3653T>G (p.Phe1218Cys) c.3296T>G (p.Phe1099Cys) | |
2 | g.166228857A>G | CA349064057 | SCN1A-AS1,SCN9A | c.4040T>C (p.Phe1347Ser) c.3884T>C (p.Phe1295Ser) c.4007T>C (p.Phe1336Ser) n.612-19338A>G c.3653T>C (p.Phe1218Ser) c.3296T>C (p.Phe1099Ser) | ClinVar dbSNP |
2 | g.166228857A>T | CA349064058 | SCN1A-AS1,SCN9A | c.4040T>A (p.Phe1347Tyr) c.3884T>A (p.Phe1295Tyr) c.4007T>A (p.Phe1336Tyr) n.612-19338A>T c.3653T>A (p.Phe1218Tyr) c.3296T>A (p.Phe1099Tyr) | |
2 | g.166228858A>C | CA349064061 | SCN1A-AS1,SCN9A | c.4039T>G (p.Phe1347Val) c.3883T>G (p.Phe1295Val) c.4006T>G (p.Phe1336Val) n.612-19337A>C c.3652T>G (p.Phe1218Val) c.3295T>G (p.Phe1099Val) | |
2 | g.166228858A>G | CA349064063 | SCN1A-AS1,SCN9A | c.4039T>C (p.Phe1347Leu) c.3883T>C (p.Phe1295Leu) c.4006T>C (p.Phe1336Leu) n.612-19337A>G c.3652T>C (p.Phe1218Leu) c.3295T>C (p.Phe1099Leu) | |
2 | g.166228858A>T | CA349064065 | SCN1A-AS1,SCN9A | c.4039T>A (p.Phe1347Ile) c.3883T>A (p.Phe1295Ile) c.4006T>A (p.Phe1336Ile) n.612-19337A>T c.3652T>A (p.Phe1218Ile) c.3295T>A (p.Phe1099Ile) | |
2 | g.166228859C>A | CA349064068 | SCN1A-AS1,SCN9A | c.4038G>T (p.Lys1346Asn) c.3882G>T (p.Lys1294Asn) c.4005G>T (p.Lys1335Asn) n.612-19336C>A c.3651G>T (p.Lys1217Asn) c.3294G>T (p.Lys1098Asn) | |
2 | g.166228859C= | CA1304943682 | SCN1A-AS1,SCN9A | c.4038G= (p.Lys1346=) c.3882G= (p.Lys1294=) c.4005G= (p.Lys1335=) n.612-19336C= c.3651G= (p.Lys1217=) c.3294G= (p.Lys1098=) | |
2 | g.166228859C>G | CA349064071 | SCN1A-AS1,SCN9A | c.4038G>C (p.Lys1346Asn) c.3882G>C (p.Lys1294Asn) c.4005G>C (p.Lys1335Asn) n.612-19336C>G c.3651G>C (p.Lys1217Asn) c.3294G>C (p.Lys1098Asn) | |
2 | g.166228859C>T | CA429899260 | SCN1A-AS1,SCN9A | c.4038G>A (p.Lys1346=) c.3882G>A (p.Lys1294=) c.4005G>A (p.Lys1335=) n.612-19336C>T c.3651G>A (p.Lys1217=) c.3294G>A (p.Lys1098=) | dbSNP |
2 | g.166228860T>A | CA349064085 | SCN1A-AS1,SCN9A | c.4037A>T (p.Lys1346Met) c.3881A>T (p.Lys1294Met) c.4004A>T (p.Lys1335Met) n.612-19335T>A c.3650A>T (p.Lys1217Met) c.3293A>T (p.Lys1098Met) | |
2 | g.166228860T>C | CA349064077 | SCN1A-AS1,SCN9A | c.4037A>G (p.Lys1346Arg) c.3881A>G (p.Lys1294Arg) c.4004A>G (p.Lys1335Arg) n.612-19335T>C c.3650A>G (p.Lys1217Arg) c.3293A>G (p.Lys1098Arg) | ClinVar dbSNP |
2 | g.166228860T>G | CA349064080 | SCN1A-AS1,SCN9A | c.4037A>C (p.Lys1346Thr) c.3881A>C (p.Lys1294Thr) c.4004A>C (p.Lys1335Thr) n.612-19335T>G c.3650A>C (p.Lys1217Thr) c.3293A>C (p.Lys1098Thr) | |
2 | g.166228861T>A | CA349064087 | SCN1A-AS1,SCN9A | c.4036A>T (p.Lys1346Ter) c.3880A>T (p.Lys1294Ter) c.4003A>T (p.Lys1335Ter) n.612-19334T>A c.3649A>T (p.Lys1217Ter) c.3292A>T (p.Lys1098Ter) | dbSNP |
2 | g.166228861T>C | CA349064089 | SCN1A-AS1,SCN9A | c.4036A>G (p.Lys1346Glu) c.3880A>G (p.Lys1294Glu) c.4003A>G (p.Lys1335Glu) n.612-19334T>C c.3649A>G (p.Lys1217Glu) c.3292A>G (p.Lys1098Glu) | |
2 | g.166228861T>G | CA349064095 | SCN1A-AS1,SCN9A | c.4036A>C (p.Lys1346Gln) c.3880A>C (p.Lys1294Gln) c.4003A>C (p.Lys1335Gln) n.612-19334T>G c.3649A>C (p.Lys1217Gln) c.3292A>C (p.Lys1098Gln) | |
2 | g.166228861T= | CA1304943683 | SCN1A-AS1,SCN9A | c.4036A= (p.Lys1346=) c.3880A= (p.Lys1294=) c.4003A= (p.Lys1335=) n.612-19334T= c.3649A= (p.Lys1217=) c.3292A= (p.Lys1098=) | |
2 | g.166228862G>A | CA429899261 | SCN1A-AS1,SCN9A | c.4035C>T (p.Gly1345=) c.3879C>T (p.Gly1293=) c.4002C>T (p.Gly1334=) n.612-19333G>A c.3648C>T (p.Gly1216=) c.3291C>T (p.Gly1097=) | gnomAD v4 |
2 | g.166228862G>C | CA429899262 | SCN1A-AS1,SCN9A | c.4035C>G (p.Gly1345=) c.3879C>G (p.Gly1293=) c.4002C>G (p.Gly1334=) n.612-19333G>C c.3648C>G (p.Gly1216=) c.3291C>G (p.Gly1097=) | |
2 | g.166228862G= | CA1304943684 | SCN1A-AS1,SCN9A | c.4035C= (p.Gly1345=) c.3879C= (p.Gly1293=) c.4002C= (p.Gly1334=) n.612-19333G= c.3648C= (p.Gly1216=) c.3291C= (p.Gly1097=) | |
2 | g.166228862G>T | CA59810319 | SCN1A-AS1,SCN9A | c.4035C>A (p.Gly1345=) c.3879C>A (p.Gly1293=) c.4002C>A (p.Gly1334=) n.612-19333G>T c.3648C>A (p.Gly1216=) c.3291C>A (p.Gly1097=) | ClinVar dbSNP gnomAD v4 |
2 | g.166228863C>A | CA349064100 | SCN1A-AS1,SCN9A | c.4034G>T (p.Gly1345Val) c.3878G>T (p.Gly1293Val) c.4001G>T (p.Gly1334Val) n.612-19332C>A c.3647G>T (p.Gly1216Val) c.3290G>T (p.Gly1097Val) | |
2 | g.166228863C= | CA1304943685 | SCN1A-AS1,SCN9A | c.4034G= (p.Gly1345=) c.3878G= (p.Gly1293=) c.4001G= (p.Gly1334=) n.612-19332C= c.3647G= (p.Gly1216=) c.3290G= (p.Gly1097=) | |
2 | g.166228863C>G | CA349064104 | SCN1A-AS1,SCN9A | c.4034G>C (p.Gly1345Ala) c.3878G>C (p.Gly1293Ala) c.4001G>C (p.Gly1334Ala) n.612-19332C>G c.3647G>C (p.Gly1216Ala) c.3290G>C (p.Gly1097Ala) | |
2 | g.166228863C>T | CA59810321 | SCN1A-AS1,SCN9A | c.4034G>A (p.Gly1345Asp) c.3878G>A (p.Gly1293Asp) c.4001G>A (p.Gly1334Asp) n.612-19332C>T c.3647G>A (p.Gly1216Asp) c.3290G>A (p.Gly1097Asp) | dbSNP gnomAD v4 |
2 | g.166228864C>A | CA349064118 | SCN1A-AS1,SCN9A | c.4033G>T (p.Gly1345Cys) c.3877G>T (p.Gly1293Cys) c.4000G>T (p.Gly1334Cys) n.612-19331C>A c.3646G>T (p.Gly1216Cys) c.3289G>T (p.Gly1097Cys) | |
2 | g.166228864C>G | CA349064121 | SCN1A-AS1,SCN9A | c.4033G>C (p.Gly1345Arg) c.3877G>C (p.Gly1293Arg) c.4000G>C (p.Gly1334Arg) n.612-19331C>G c.3646G>C (p.Gly1216Arg) c.3289G>C (p.Gly1097Arg) | |
2 | g.166228864C>T | CA349064125 | SCN1A-AS1,SCN9A | c.4033G>A (p.Gly1345Ser) c.3877G>A (p.Gly1293Ser) c.4000G>A (p.Gly1334Ser) n.612-19331C>T c.3646G>A (p.Gly1216Ser) c.3289G>A (p.Gly1097Ser) | |
2 | g.166228865A>C | CA429899265 | SCN1A-AS1,SCN9A | c.4032T>G (p.Ala1344=) c.3876T>G (p.Ala1292=) c.3999T>G (p.Ala1333=) n.612-19330A>C c.3645T>G (p.Ala1215=) c.3288T>G (p.Ala1096=) | |
2 | g.166228865A>G | CA429899266 | SCN1A-AS1,SCN9A | c.4032T>C (p.Ala1344=) c.3876T>C (p.Ala1292=) c.3999T>C (p.Ala1333=) n.612-19330A>G c.3645T>C (p.Ala1215=) c.3288T>C (p.Ala1096=) | |
2 | g.166228865A>T | CA429899267 | SCN1A-AS1,SCN9A | c.4032T>A (p.Ala1344=) c.3876T>A (p.Ala1292=) c.3999T>A (p.Ala1333=) n.612-19330A>T c.3645T>A (p.Ala1215=) c.3288T>A (p.Ala1096=) | |
2 | g.166228866G>A | CA349064128 | SCN1A-AS1,SCN9A | c.4031C>T (p.Ala1344Val) c.3875C>T (p.Ala1292Val) c.3998C>T (p.Ala1333Val) n.612-19329G>A c.3644C>T (p.Ala1215Val) c.3287C>T (p.Ala1096Val) | |
2 | g.166228866G>C | CA349064131 | SCN1A-AS1,SCN9A | c.4031C>G (p.Ala1344Gly) c.3875C>G (p.Ala1292Gly) c.3998C>G (p.Ala1333Gly) n.612-19329G>C c.3644C>G (p.Ala1215Gly) c.3287C>G (p.Ala1096Gly) | |
2 | g.166228866G>T | CA349064134 | SCN1A-AS1,SCN9A | c.4031C>A (p.Ala1344Asp) c.3875C>A (p.Ala1292Asp) c.3998C>A (p.Ala1333Asp) n.612-19329G>T c.3644C>A (p.Ala1215Asp) c.3287C>A (p.Ala1096Asp) | |
2 | g.166228867C>A | CA1943961 | SCN1A-AS1,SCN9A | c.4030G>T (p.Ala1344Ser) c.3874G>T (p.Ala1292Ser) c.3997G>T (p.Ala1333Ser) n.612-19328C>A c.3643G>T (p.Ala1215Ser) c.3286G>T (p.Ala1096Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228867C= | CA1304943686 | SCN1A-AS1,SCN9A | c.4030G= (p.Ala1344=) c.3874G= (p.Ala1292=) c.3997G= (p.Ala1333=) n.612-19328C= c.3643G= (p.Ala1215=) c.3286G= (p.Ala1096=) | |
2 | g.166228867C>G | CA349064143 | SCN1A-AS1,SCN9A | c.4030G>C (p.Ala1344Pro) c.3874G>C (p.Ala1292Pro) c.3997G>C (p.Ala1333Pro) n.612-19328C>G c.3643G>C (p.Ala1215Pro) c.3286G>C (p.Ala1096Pro) | gnomAD v4 |
2 | g.166228867C>T | CA349064141 | SCN1A-AS1,SCN9A | c.4030G>A (p.Ala1344Thr) c.3874G>A (p.Ala1292Thr) c.3997G>A (p.Ala1333Thr) n.612-19328C>T c.3643G>A (p.Ala1215Thr) c.3286G>A (p.Ala1096Thr) | |
2 | g.166228868A>C | CA349064145 | SCN1A-AS1,SCN9A | c.4029T>G (p.Phe1343Leu) c.3873T>G (p.Phe1291Leu) c.3996T>G (p.Phe1332Leu) n.612-19327A>C c.3642T>G (p.Phe1214Leu) c.3285T>G (p.Phe1095Leu) | |
2 | g.166228868A>G | CA429899332 | SCN1A-AS1,SCN9A | c.4029T>C (p.Phe1343=) c.3873T>C (p.Phe1291=) c.3996T>C (p.Phe1332=) n.612-19327A>G c.3642T>C (p.Phe1214=) c.3285T>C (p.Phe1095=) | gnomAD v4 |
2 | g.166228868A>T | CA349064157 | SCN1A-AS1,SCN9A | c.4029T>A (p.Phe1343Leu) c.3873T>A (p.Phe1291Leu) c.3996T>A (p.Phe1332Leu) n.612-19327A>T c.3642T>A (p.Phe1214Leu) c.3285T>A (p.Phe1095Leu) | |
2 | g.166228869A>C | CA349064160 | SCN1A-AS1,SCN9A | c.4028T>G (p.Phe1343Cys) c.3872T>G (p.Phe1291Cys) c.3995T>G (p.Phe1332Cys) n.612-19326A>C c.3641T>G (p.Phe1214Cys) c.3284T>G (p.Phe1095Cys) | |
2 | g.166228869A>G | CA349064161 | SCN1A-AS1,SCN9A | c.4028T>C (p.Phe1343Ser) c.3872T>C (p.Phe1291Ser) c.3995T>C (p.Phe1332Ser) n.612-19326A>G c.3641T>C (p.Phe1214Ser) c.3284T>C (p.Phe1095Ser) | |
2 | g.166228869A>T | CA349064162 | SCN1A-AS1,SCN9A | c.4028T>A (p.Phe1343Tyr) c.3872T>A (p.Phe1291Tyr) c.3995T>A (p.Phe1332Tyr) n.612-19326A>T c.3641T>A (p.Phe1214Tyr) c.3284T>A (p.Phe1095Tyr) | |
2 | g.166228870A>C | CA349064163 | SCN1A-AS1,SCN9A | c.4027T>G (p.Phe1343Val) c.3871T>G (p.Phe1291Val) c.3994T>G (p.Phe1332Val) n.612-19325A>C c.3640T>G (p.Phe1214Val) c.3283T>G (p.Phe1095Val) | |
2 | g.166228870A>G | CA349064164 | SCN1A-AS1,SCN9A | c.4027T>C (p.Phe1343Leu) c.3871T>C (p.Phe1291Leu) c.3994T>C (p.Phe1332Leu) n.612-19325A>G c.3640T>C (p.Phe1214Leu) c.3283T>C (p.Phe1095Leu) | |
2 | g.166228870A>T | CA349064166 | SCN1A-AS1,SCN9A | c.4027T>A (p.Phe1343Ile) c.3871T>A (p.Phe1291Ile) c.3994T>A (p.Phe1332Ile) n.612-19325A>T c.3640T>A (p.Phe1214Ile) c.3283T>A (p.Phe1095Ile) | |
2 | g.166228870_166228871delinsAC | CA1304943687 | SCN1A-AS1,SCN9A | c.4026_4027delinsGT (p.Leu1342=) c.3870_3871delinsGT (p.Leu1290=) c.3993_3994delinsGT (p.Leu1331=) n.612-19325_612-19324delinsAC c.3639_3640delinsGT (p.Leu1213=) c.3282_3283delinsGT (p.Leu1094=) | |
2 | g.166228871C>A | CA59810326 | SCN1A-AS1,SCN9A | c.4026G>T (p.Leu1342Phe) c.3870G>T (p.Leu1290Phe) c.3993G>T (p.Leu1331Phe) n.612-19324C>A c.3639G>T (p.Leu1213Phe) c.3282G>T (p.Leu1094Phe) | dbSNP |
2 | g.166228871C= | CA1304943688 | SCN1A-AS1,SCN9A | c.4026G= (p.Leu1342=) c.3870G= (p.Leu1290=) c.3993G= (p.Leu1331=) n.612-19324C= c.3639G= (p.Leu1213=) c.3282G= (p.Leu1094=) | |
2 | g.166228871C>G | CA59810323 | SCN1A-AS1,SCN9A | c.4026G>C (p.Leu1342Phe) c.3870G>C (p.Leu1290Phe) c.3993G>C (p.Leu1331Phe) n.612-19324C>G c.3639G>C (p.Leu1213Phe) c.3282G>C (p.Leu1094Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166228871C>T | CA429899336 | SCN1A-AS1,SCN9A | c.4026G>A (p.Leu1342=) c.3870G>A (p.Leu1290=) c.3993G>A (p.Leu1331=) n.612-19324C>T c.3639G>A (p.Leu1213=) c.3282G>A (p.Leu1094=) | |
2 | g.166228871delinsAA | CA171010 | SCN1A-AS1,SCN9A | c.4026delinsTT (p.Leu1342PhefsTer8) c.3870delinsTT (p.Leu1290PhefsTer8) c.3993delinsTT (p.Leu1331PhefsTer8) n.612-19324delinsAA c.3639delinsTT (p.Leu1213PhefsTer8) c.3282delinsTT (p.Leu1094PhefsTer8) | ClinVar dbSNP |
2 | g.166228872A= | CA1304943689 | SCN1A-AS1,SCN9A | c.4025T= (p.Leu1342=) c.3869T= (p.Leu1290=) c.3992T= (p.Leu1331=) n.612-19323A= c.3638T= (p.Leu1213=) c.3281T= (p.Leu1094=) | |
2 | g.166228872A>C | CA349064195 | SCN1A-AS1,SCN9A | c.4025T>G (p.Leu1342Trp) c.3869T>G (p.Leu1290Trp) c.3992T>G (p.Leu1331Trp) n.612-19323A>C c.3638T>G (p.Leu1213Trp) c.3281T>G (p.Leu1094Trp) | |
2 | g.166228872A>G | CA349064198 | SCN1A-AS1,SCN9A | c.4025T>C (p.Leu1342Ser) c.3869T>C (p.Leu1290Ser) c.3992T>C (p.Leu1331Ser) n.612-19323A>G c.3638T>C (p.Leu1213Ser) c.3281T>C (p.Leu1094Ser) | ClinVar dbSNP |
2 | g.166228872A>T | CA349064201 | SCN1A-AS1,SCN9A | c.4025T>A (p.Leu1342Ter) c.3869T>A (p.Leu1290Ter) c.3992T>A (p.Leu1331Ter) n.612-19323A>T c.3638T>A (p.Leu1213Ter) c.3281T>A (p.Leu1094Ter) | dbSNP |
2 | g.166228873A= | CA1304943690 | SCN1A-AS1,SCN9A | c.4024T= (p.Leu1342=) c.3868T= (p.Leu1290=) c.3991T= (p.Leu1331=) n.612-19322A= c.3637T= (p.Leu1213=) c.3280T= (p.Leu1094=) | |
2 | g.166228873A>C | CA349064206 | SCN1A-AS1,SCN9A | c.4024T>G (p.Leu1342Val) c.3868T>G (p.Leu1290Val) c.3991T>G (p.Leu1331Val) n.612-19322A>C c.3637T>G (p.Leu1213Val) c.3280T>G (p.Leu1094Val) | ClinVar dbSNP COSMIC COSMIC |
2 | g.166228873A>G | CA429899344 | SCN1A-AS1,SCN9A | c.4024T>C (p.Leu1342=) c.3868T>C (p.Leu1290=) c.3991T>C (p.Leu1331=) n.612-19322A>G c.3637T>C (p.Leu1213=) c.3280T>C (p.Leu1094=) | gnomAD v4 |
2 | g.166228873A>T | CA349064208 | SCN1A-AS1,SCN9A | c.4024T>A (p.Leu1342Met) c.3868T>A (p.Leu1290Met) c.3991T>A (p.Leu1331Met) n.612-19322A>T c.3637T>A (p.Leu1213Met) c.3280T>A (p.Leu1094Met) | |
2 | g.166228874A>C | CA349064212 | SCN1A-AS1,SCN9A | c.4023T>G (p.Asn1341Lys) c.3867T>G (p.Asn1289Lys) c.3990T>G (p.Asn1330Lys) n.612-19321A>C c.3636T>G (p.Asn1212Lys) c.3279T>G (p.Asn1093Lys) | COSMIC COSMIC |
2 | g.166228874A>G | CA429899346 | SCN1A-AS1,SCN9A | c.4023T>C (p.Asn1341=) c.3867T>C (p.Asn1289=) c.3990T>C (p.Asn1330=) n.612-19321A>G c.3636T>C (p.Asn1212=) c.3279T>C (p.Asn1093=) | |
2 | g.166228874A>T | CA349064215 | SCN1A-AS1,SCN9A | c.4023T>A (p.Asn1341Lys) c.3867T>A (p.Asn1289Lys) c.3990T>A (p.Asn1330Lys) n.612-19321A>T c.3636T>A (p.Asn1212Lys) c.3279T>A (p.Asn1093Lys) | |
2 | g.166228875T>A | CA349064221 | SCN1A-AS1,SCN9A | c.4022A>T (p.Asn1341Ile) c.3866A>T (p.Asn1289Ile) c.3989A>T (p.Asn1330Ile) n.612-19320T>A c.3635A>T (p.Asn1212Ile) c.3278A>T (p.Asn1093Ile) | |
2 | g.166228875T>C | CA349064226 | SCN1A-AS1,SCN9A | c.4022A>G (p.Asn1341Ser) c.3866A>G (p.Asn1289Ser) c.3989A>G (p.Asn1330Ser) n.612-19320T>C c.3635A>G (p.Asn1212Ser) c.3278A>G (p.Asn1093Ser) | |
2 | g.166228875T>G | CA349064228 | SCN1A-AS1,SCN9A | c.4022A>C (p.Asn1341Thr) c.3866A>C (p.Asn1289Thr) c.3989A>C (p.Asn1330Thr) n.612-19320T>G c.3635A>C (p.Asn1212Thr) c.3278A>C (p.Asn1093Thr) | |
2 | g.166228876T>A | CA349064231 | SCN1A-AS1,SCN9A | c.4021A>T (p.Asn1341Tyr) c.3865A>T (p.Asn1289Tyr) c.3988A>T (p.Asn1330Tyr) n.612-19319T>A c.3634A>T (p.Asn1212Tyr) c.3277A>T (p.Asn1093Tyr) | |
2 | g.166228876T>C | CA349064235 | SCN1A-AS1,SCN9A | c.4021A>G (p.Asn1341Asp) c.3865A>G (p.Asn1289Asp) c.3988A>G (p.Asn1330Asp) n.612-19319T>C c.3634A>G (p.Asn1212Asp) c.3277A>G (p.Asn1093Asp) | |
2 | g.166228876T>G | CA1943962 | SCN1A-AS1,SCN9A | c.4021A>C (p.Asn1341His) c.3865A>C (p.Asn1289His) c.3988A>C (p.Asn1330His) n.612-19319T>G c.3634A>C (p.Asn1212His) c.3277A>C (p.Asn1093His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166228876T= | CA1304943691 | SCN1A-AS1,SCN9A | c.4021A= (p.Asn1341=) c.3865A= (p.Asn1289=) c.3988A= (p.Asn1330=) n.612-19319T= c.3634A= (p.Asn1212=) c.3277A= (p.Asn1093=) | |
2 | g.166228877T>A | CA429899347 | SCN1A-AS1,SCN9A | c.4020A>T (p.Val1340=) c.3864A>T (p.Val1288=) c.3987A>T (p.Val1329=) n.612-19318T>A c.3633A>T (p.Val1211=) c.3276A>T (p.Val1092=) | |
2 | g.166228877T>C | CA429899348 | SCN1A-AS1,SCN9A | c.4020A>G (p.Val1340=) c.3864A>G (p.Val1288=) c.3987A>G (p.Val1329=) n.612-19318T>C c.3633A>G (p.Val1211=) c.3276A>G (p.Val1092=) | |
2 | g.166228877T>G | CA429899349 | SCN1A-AS1,SCN9A | c.4020A>C (p.Val1340=) c.3864A>C (p.Val1288=) c.3987A>C (p.Val1329=) n.612-19318T>G c.3633A>C (p.Val1211=) c.3276A>C (p.Val1092=) | |
2 | g.166228878A>C | CA349064240 | SCN1A-AS1,SCN9A | c.4019T>G (p.Val1340Gly) c.3863T>G (p.Val1288Gly) c.3986T>G (p.Val1329Gly) n.612-19317A>C c.3632T>G (p.Val1211Gly) c.3275T>G (p.Val1092Gly) | |
2 | g.166228878A>G | CA349064241 | SCN1A-AS1,SCN9A | c.4019T>C (p.Val1340Ala) c.3863T>C (p.Val1288Ala) c.3986T>C (p.Val1329Ala) n.612-19317A>G c.3632T>C (p.Val1211Ala) c.3275T>C (p.Val1092Ala) | |
2 | g.166228878A>T | CA349064242 | SCN1A-AS1,SCN9A | c.4019T>A (p.Val1340Glu) c.3863T>A (p.Val1288Glu) c.3986T>A (p.Val1329Glu) n.612-19317A>T c.3632T>A (p.Val1211Glu) c.3275T>A (p.Val1092Glu) | |
2 | g.166228879C>A | CA349064247 | SCN1A-AS1,SCN9A | c.4018G>T (p.Val1340Leu) c.3862G>T (p.Val1288Leu) c.3985G>T (p.Val1329Leu) n.612-19316C>A c.3631G>T (p.Val1211Leu) c.3274G>T (p.Val1092Leu) | |
2 | g.166228879C>G | CA349064245 | SCN1A-AS1,SCN9A | c.4018G>C (p.Val1340Leu) c.3862G>C (p.Val1288Leu) c.3985G>C (p.Val1329Leu) n.612-19316C>G c.3631G>C (p.Val1211Leu) c.3274G>C (p.Val1092Leu) | |
2 | g.166228879C>T | CA349064243 | SCN1A-AS1,SCN9A | c.4018G>A (p.Val1340Ile) c.3862G>A (p.Val1288Ile) c.3985G>A (p.Val1329Ile) n.612-19316C>T c.3631G>A (p.Val1211Ile) c.3274G>A (p.Val1092Ile) | gnomAD v4 |
2 | g.166228880T>A | CA429899351 | SCN1A-AS1,SCN9A | c.4017A>T (p.Gly1339=) c.3861A>T (p.Gly1287=) c.3984A>T (p.Gly1328=) n.612-19315T>A c.3630A>T (p.Gly1210=) c.3273A>T (p.Gly1091=) | |
2 | g.166228880T>C | CA429899352 | SCN1A-AS1,SCN9A | c.4017A>G (p.Gly1339=) c.3861A>G (p.Gly1287=) c.3984A>G (p.Gly1328=) n.612-19315T>C c.3630A>G (p.Gly1210=) c.3273A>G (p.Gly1091=) | |
2 | g.166228880T>G | CA429899353 | SCN1A-AS1,SCN9A | c.4017A>C (p.Gly1339=) c.3861A>C (p.Gly1287=) c.3984A>C (p.Gly1328=) n.612-19315T>G c.3630A>C (p.Gly1210=) c.3273A>C (p.Gly1091=) | |
2 | g.166228881C>A | CA349064250 | SCN1A-AS1,SCN9A | c.4016G>T (p.Gly1339Val) c.3860G>T (p.Gly1287Val) c.3983G>T (p.Gly1328Val) n.612-19314C>A c.3629G>T (p.Gly1210Val) c.3272G>T (p.Gly1091Val) | |
2 | g.166228881C= | CA1304943692 | SCN1A-AS1,SCN9A | c.4016G= (p.Gly1339=) c.3860G= (p.Gly1287=) c.3983G= (p.Gly1328=) n.612-19314C= c.3629G= (p.Gly1210=) c.3272G= (p.Gly1091=) | |
2 | g.166228881C>G | CA349064251 | SCN1A-AS1,SCN9A | c.4016G>C (p.Gly1339Ala) c.3860G>C (p.Gly1287Ala) c.3983G>C (p.Gly1328Ala) n.612-19314C>G c.3629G>C (p.Gly1210Ala) c.3272G>C (p.Gly1091Ala) | |
2 | g.166228881C>T | CA59810333 | SCN1A-AS1,SCN9A | c.4016G>A (p.Gly1339Glu) c.3860G>A (p.Gly1287Glu) c.3983G>A (p.Gly1328Glu) n.612-19314C>T c.3629G>A (p.Gly1210Glu) c.3272G>A (p.Gly1091Glu) | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.166228882C>A | CA349064252 | SCN1A-AS1,SCN9A | c.4015G>T (p.Gly1339Ter) c.3859G>T (p.Gly1287Ter) c.3982G>T (p.Gly1328Ter) n.612-19313C>A c.3628G>T (p.Gly1210Ter) c.3271G>T (p.Gly1091Ter) | dbSNP |
2 | g.166228882C= | CA1304943693 | SCN1A-AS1,SCN9A | c.4015G= (p.Gly1339=) c.3859G= (p.Gly1287=) c.3982G= (p.Gly1328=) n.612-19313C= c.3628G= (p.Gly1210=) c.3271G= (p.Gly1091=) | |
2 | g.166228882C>G | CA349064253 | SCN1A-AS1,SCN9A | c.4015G>C (p.Gly1339Arg) c.3859G>C (p.Gly1287Arg) c.3982G>C (p.Gly1328Arg) n.612-19313C>G c.3628G>C (p.Gly1210Arg) c.3271G>C (p.Gly1091Arg) | |
2 | g.166228882C>T | CA349064254 | SCN1A-AS1,SCN9A | c.4015G>A (p.Gly1339Arg) c.3859G>A (p.Gly1287Arg) c.3982G>A (p.Gly1328Arg) n.612-19313C>T c.3628G>A (p.Gly1210Arg) c.3271G>A (p.Gly1091Arg) | |
2 | g.166228883C>A | CA349064255 | SCN1A-AS1,SCN9A | c.4014G>T (p.Met1338Ile) c.3858G>T (p.Met1286Ile) c.3981G>T (p.Met1327Ile) n.612-19312C>A c.3627G>T (p.Met1209Ile) c.3270G>T (p.Met1090Ile) | |
2 | g.166228883C>G | CA349064256 | SCN1A-AS1,SCN9A | c.4014G>C (p.Met1338Ile) c.3858G>C (p.Met1286Ile) c.3981G>C (p.Met1327Ile) n.612-19312C>G c.3627G>C (p.Met1209Ile) c.3270G>C (p.Met1090Ile) | |
2 | g.166228883C>T | CA349064257 | SCN1A-AS1,SCN9A | c.4014G>A (p.Met1338Ile) c.3858G>A (p.Met1286Ile) c.3981G>A (p.Met1327Ile) n.612-19312C>T c.3627G>A (p.Met1209Ile) c.3270G>A (p.Met1090Ile) | |
2 | g.166228884A>C | CA349064258 | SCN1A-AS1,SCN9A | c.4013T>G (p.Met1338Arg) c.3857T>G (p.Met1286Arg) c.3980T>G (p.Met1327Arg) n.612-19311A>C c.3626T>G (p.Met1209Arg) c.3269T>G (p.Met1090Arg) | |
2 | g.166228884A>G | CA349064259 | SCN1A-AS1,SCN9A | c.4013T>C (p.Met1338Thr) c.3857T>C (p.Met1286Thr) c.3980T>C (p.Met1327Thr) n.612-19311A>G c.3626T>C (p.Met1209Thr) c.3269T>C (p.Met1090Thr) | |
2 | g.166228884A>T | CA349064260 | SCN1A-AS1,SCN9A | c.4013T>A (p.Met1338Lys) c.3857T>A (p.Met1286Lys) c.3980T>A (p.Met1327Lys) n.612-19311A>T c.3626T>A (p.Met1209Lys) c.3269T>A (p.Met1090Lys) | |
2 | g.166228885T>A | CA349064261 | SCN1A-AS1,SCN9A | c.4012A>T (p.Met1338Leu) c.3856A>T (p.Met1286Leu) c.3979A>T (p.Met1327Leu) n.612-19310T>A c.3625A>T (p.Met1209Leu) c.3268A>T (p.Met1090Leu) | gnomAD v4 |
2 | g.166228885T>C | CA59810336 | SCN1A-AS1,SCN9A | c.4012A>G (p.Met1338Val) c.3856A>G (p.Met1286Val) c.3979A>G (p.Met1327Val) n.612-19310T>C c.3625A>G (p.Met1209Val) c.3268A>G (p.Met1090Val) | ClinVar dbSNP |
2 | g.166228885T>G | CA349064262 | SCN1A-AS1,SCN9A | c.4012A>C (p.Met1338Leu) c.3856A>C (p.Met1286Leu) c.3979A>C (p.Met1327Leu) n.612-19310T>G c.3625A>C (p.Met1209Leu) c.3268A>C (p.Met1090Leu) | |
2 | g.166228885T= | CA1304943694 | SCN1A-AS1,SCN9A | c.4012A= (p.Met1338=) c.3856A= (p.Met1286=) c.3979A= (p.Met1327=) n.612-19310T= c.3625A= (p.Met1209=) c.3268A= (p.Met1090=) | |
2 | g.166228886G>A | CA429899358 | SCN1A-AS1,SCN9A | c.4011C>T (p.Ile1337=) c.3855C>T (p.Ile1285=) c.3978C>T (p.Ile1326=) n.612-19309G>A c.3624C>T (p.Ile1208=) c.3267C>T (p.Ile1089=) | |
2 | g.166228886G>C | CA349064263 | SCN1A-AS1,SCN9A | c.4011C>G (p.Ile1337Met) c.3855C>G (p.Ile1285Met) c.3978C>G (p.Ile1326Met) n.612-19309G>C c.3624C>G (p.Ile1208Met) c.3267C>G (p.Ile1089Met) | |
2 | g.166228886G>T | CA429899360 | SCN1A-AS1,SCN9A | c.4011C>A (p.Ile1337=) c.3855C>A (p.Ile1285=) c.3978C>A (p.Ile1326=) n.612-19309G>T c.3624C>A (p.Ile1208=) c.3267C>A (p.Ile1089=) | |
2 | g.166228887A>C | CA349064266 | SCN1A-AS1,SCN9A | c.4010T>G (p.Ile1337Ser) c.3854T>G (p.Ile1285Ser) c.3977T>G (p.Ile1326Ser) n.612-19308A>C c.3623T>G (p.Ile1208Ser) c.3266T>G (p.Ile1089Ser) | |
2 | g.166228887A>G | CA349064265 | SCN1A-AS1,SCN9A | c.4010T>C (p.Ile1337Thr) c.3854T>C (p.Ile1285Thr) c.3977T>C (p.Ile1326Thr) n.612-19308A>G c.3623T>C (p.Ile1208Thr) c.3266T>C (p.Ile1089Thr) | |
2 | g.166228887A>T | CA349064264 | SCN1A-AS1,SCN9A | c.4010T>A (p.Ile1337Asn) c.3854T>A (p.Ile1285Asn) c.3977T>A (p.Ile1326Asn) n.612-19308A>T c.3623T>A (p.Ile1208Asn) c.3266T>A (p.Ile1089Asn) | |
2 | g.166228888T>A | CA349064267 | SCN1A-AS1,SCN9A | c.4009A>T (p.Ile1337Phe) c.3853A>T (p.Ile1285Phe) c.3976A>T (p.Ile1326Phe) n.612-19307T>A c.3622A>T (p.Ile1208Phe) c.3265A>T (p.Ile1089Phe) | |
2 | g.166228888T>C | CA1943963 | SCN1A-AS1,SCN9A | c.4009A>G (p.Ile1337Val) c.3853A>G (p.Ile1285Val) c.3976A>G (p.Ile1326Val) n.612-19307T>C c.3622A>G (p.Ile1208Val) c.3265A>G (p.Ile1089Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166228888T>G | CA1943964 | SCN1A-AS1,SCN9A | c.4009A>C (p.Ile1337Leu) c.3853A>C (p.Ile1285Leu) c.3976A>C (p.Ile1326Leu) n.612-19307T>G c.3622A>C (p.Ile1208Leu) c.3265A>C (p.Ile1089Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228888T= | CA1304943695 | SCN1A-AS1,SCN9A | c.4009A= (p.Ile1337=) c.3853A= (p.Ile1285=) c.3976A= (p.Ile1326=) n.612-19307T= c.3622A= (p.Ile1208=) c.3265A= (p.Ile1089=) | |
2 | g.166228889G>A | CA429899361 | SCN1A-AS1,SCN9A | c.4008C>T (p.Ser1336=) c.3852C>T (p.Ser1284=) c.3975C>T (p.Ser1325=) n.612-19306G>A c.3621C>T (p.Ser1207=) c.3264C>T (p.Ser1088=) | ClinVar dbSNP |
2 | g.166228889G>C | CA349064268 | SCN1A-AS1,SCN9A | c.4008C>G (p.Ser1336Arg) c.3852C>G (p.Ser1284Arg) c.3975C>G (p.Ser1325Arg) n.612-19306G>C c.3621C>G (p.Ser1207Arg) c.3264C>G (p.Ser1088Arg) | |
2 | g.166228889G= | CA1304943696 | SCN1A-AS1,SCN9A | c.4008C= (p.Ser1336=) c.3852C= (p.Ser1284=) c.3975C= (p.Ser1325=) n.612-19306G= c.3621C= (p.Ser1207=) c.3264C= (p.Ser1088=) | |
2 | g.166228889G>T | CA349064269 | SCN1A-AS1,SCN9A | c.4008C>A (p.Ser1336Arg) c.3852C>A (p.Ser1284Arg) c.3975C>A (p.Ser1325Arg) n.612-19306G>T c.3621C>A (p.Ser1207Arg) c.3264C>A (p.Ser1088Arg) | |
2 | g.166228890C>A | CA349064270 | SCN1A-AS1,SCN9A | c.4007G>T (p.Ser1336Ile) c.3851G>T (p.Ser1284Ile) c.3974G>T (p.Ser1325Ile) n.612-19305C>A c.3620G>T (p.Ser1207Ile) c.3263G>T (p.Ser1088Ile) | |
2 | g.166228890C>G | CA349064271 | SCN1A-AS1,SCN9A | c.4007G>C (p.Ser1336Thr) c.3851G>C (p.Ser1284Thr) c.3974G>C (p.Ser1325Thr) n.612-19305C>G c.3620G>C (p.Ser1207Thr) c.3263G>C (p.Ser1088Thr) | |
2 | g.166228890C>T | CA349064272 | SCN1A-AS1,SCN9A | c.4007G>A (p.Ser1336Asn) c.3851G>A (p.Ser1284Asn) c.3974G>A (p.Ser1325Asn) n.612-19305C>T c.3620G>A (p.Ser1207Asn) c.3263G>A (p.Ser1088Asn) | |
2 | g.166228891T>A | CA349064273 | SCN1A-AS1,SCN9A | c.4006A>T (p.Ser1336Cys) c.3850A>T (p.Ser1284Cys) c.3973A>T (p.Ser1325Cys) n.612-19304T>A c.3619A>T (p.Ser1207Cys) c.3262A>T (p.Ser1088Cys) | |
2 | g.166228891T>C | CA349064274 | SCN1A-AS1,SCN9A | c.4006A>G (p.Ser1336Gly) c.3850A>G (p.Ser1284Gly) c.3973A>G (p.Ser1325Gly) n.612-19304T>C c.3619A>G (p.Ser1207Gly) c.3262A>G (p.Ser1088Gly) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.166228891T>G | CA349064275 | SCN1A-AS1,SCN9A | c.4006A>C (p.Ser1336Arg) c.3850A>C (p.Ser1284Arg) c.3973A>C (p.Ser1325Arg) n.612-19304T>G c.3619A>C (p.Ser1207Arg) c.3262A>C (p.Ser1088Arg) | |
2 | g.166228891T= | CA1304943697 | SCN1A-AS1,SCN9A | c.4006A= (p.Ser1336=) c.3850A= (p.Ser1284=) c.3973A= (p.Ser1325=) n.612-19304T= c.3619A= (p.Ser1207=) c.3262A= (p.Ser1088=) | |
2 | g.166228892G>A | CA429899367 | SCN1A-AS1,SCN9A | c.4005C>T (p.Phe1335=) c.3849C>T (p.Phe1283=) c.3972C>T (p.Phe1324=) n.612-19303G>A c.3618C>T (p.Phe1206=) c.3261C>T (p.Phe1087=) | |
2 | g.166228892G>C | CA349064276 | SCN1A-AS1,SCN9A | c.4005C>G (p.Phe1335Leu) c.3849C>G (p.Phe1283Leu) c.3972C>G (p.Phe1324Leu) n.612-19303G>C c.3618C>G (p.Phe1206Leu) c.3261C>G (p.Phe1087Leu) | ClinVar gnomAD v4 |
2 | g.166228892G>T | CA349064279 | SCN1A-AS1,SCN9A | c.4005C>A (p.Phe1335Leu) c.3849C>A (p.Phe1283Leu) c.3972C>A (p.Phe1324Leu) n.612-19303G>T c.3618C>A (p.Phe1206Leu) c.3261C>A (p.Phe1087Leu) | |
2 | g.166228893A>C | CA349064281 | SCN1A-AS1,SCN9A | c.4004T>G (p.Phe1335Cys) c.3848T>G (p.Phe1283Cys) c.3971T>G (p.Phe1324Cys) n.612-19302A>C c.3617T>G (p.Phe1206Cys) c.3260T>G (p.Phe1087Cys) | |
2 | g.166228893A>G | CA349064282 | SCN1A-AS1,SCN9A | c.4004T>C (p.Phe1335Ser) c.3848T>C (p.Phe1283Ser) c.3971T>C (p.Phe1324Ser) n.612-19302A>G c.3617T>C (p.Phe1206Ser) c.3260T>C (p.Phe1087Ser) | |
2 | g.166228893A>T | CA349064280 | SCN1A-AS1,SCN9A | c.4004T>A (p.Phe1335Tyr) c.3848T>A (p.Phe1283Tyr) c.3971T>A (p.Phe1324Tyr) n.612-19302A>T c.3617T>A (p.Phe1206Tyr) c.3260T>A (p.Phe1087Tyr) | |
2 | g.166228894A>C | CA349064283 | SCN1A-AS1,SCN9A | c.4003T>G (p.Phe1335Val) c.3847T>G (p.Phe1283Val) c.3970T>G (p.Phe1324Val) n.612-19301A>C c.3616T>G (p.Phe1206Val) c.3259T>G (p.Phe1087Val) | |
2 | g.166228894A>G | CA349064284 | SCN1A-AS1,SCN9A | c.4003T>C (p.Phe1335Leu) c.3847T>C (p.Phe1283Leu) c.3970T>C (p.Phe1324Leu) n.612-19301A>G c.3616T>C (p.Phe1206Leu) c.3259T>C (p.Phe1087Leu) | |
2 | g.166228894A>T | CA349064307 | SCN1A-AS1,SCN9A | c.4003T>A (p.Phe1335Ile) c.3847T>A (p.Phe1283Ile) c.3970T>A (p.Phe1324Ile) n.612-19301A>T c.3616T>A (p.Phe1206Ile) c.3259T>A (p.Phe1087Ile) | |
2 | g.166228895T>A | CA429899369 | SCN1A-AS1,SCN9A | c.4002A>T (p.Ile1334=) c.3846A>T (p.Ile1282=) c.3969A>T (p.Ile1323=) n.612-19300T>A c.3615A>T (p.Ile1205=) c.3258A>T (p.Ile1086=) | |
2 | g.166228895T>C | CA349064313 | SCN1A-AS1,SCN9A | c.4002A>G (p.Ile1334Met) c.3846A>G (p.Ile1282Met) c.3969A>G (p.Ile1323Met) n.612-19300T>C c.3615A>G (p.Ile1205Met) c.3258A>G (p.Ile1086Met) | |
2 | g.166228895T>G | CA429899370 | SCN1A-AS1,SCN9A | c.4002A>C (p.Ile1334=) c.3846A>C (p.Ile1282=) c.3969A>C (p.Ile1323=) n.612-19300T>G c.3615A>C (p.Ile1205=) c.3258A>C (p.Ile1086=) | |
2 | g.166228896A>C | CA349064316 | SCN1A-AS1,SCN9A | c.4001T>G (p.Ile1334Arg) c.3845T>G (p.Ile1282Arg) c.3968T>G (p.Ile1323Arg) n.612-19299A>C c.3614T>G (p.Ile1205Arg) c.3257T>G (p.Ile1086Arg) | |
2 | g.166228896A>G | CA349064319 | SCN1A-AS1,SCN9A | c.4001T>C (p.Ile1334Thr) c.3845T>C (p.Ile1282Thr) c.3968T>C (p.Ile1323Thr) n.612-19299A>G c.3614T>C (p.Ile1205Thr) c.3257T>C (p.Ile1086Thr) | gnomAD v4 |
2 | g.166228896A>T | CA349064322 | SCN1A-AS1,SCN9A | c.4001T>A (p.Ile1334Lys) c.3845T>A (p.Ile1282Lys) c.3968T>A (p.Ile1323Lys) n.612-19299A>T c.3614T>A (p.Ile1205Lys) c.3257T>A (p.Ile1086Lys) | |
2 | g.166228897T>A | CA349064326 | SCN1A-AS1,SCN9A | c.4000A>T (p.Ile1334Leu) c.3844A>T (p.Ile1282Leu) c.3967A>T (p.Ile1323Leu) n.612-19298T>A c.3613A>T (p.Ile1205Leu) c.3256A>T (p.Ile1086Leu) | |
2 | g.166228897T>C | CA349064329 | SCN1A-AS1,SCN9A | c.4000A>G (p.Ile1334Val) c.3844A>G (p.Ile1282Val) c.3967A>G (p.Ile1323Val) n.612-19298T>C c.3613A>G (p.Ile1205Val) c.3256A>G (p.Ile1086Val) | |
2 | g.166228897T>G | CA349064336 | SCN1A-AS1,SCN9A | c.4000A>C (p.Ile1334Leu) c.3844A>C (p.Ile1282Leu) c.3967A>C (p.Ile1323Leu) n.612-19298T>G c.3613A>C (p.Ile1205Leu) c.3256A>C (p.Ile1086Leu) | |
2 | g.166228898C>A | CA429899372 | SCN1A-AS1,SCN9A | c.3999G>T (p.Leu1333=) c.3843G>T (p.Leu1281=) c.3966G>T (p.Leu1322=) n.612-19297C>A c.3612G>T (p.Leu1204=) c.3255G>T (p.Leu1085=) | |
2 | g.166228898C>G | CA429899373 | SCN1A-AS1,SCN9A | c.3999G>C (p.Leu1333=) c.3843G>C (p.Leu1281=) c.3966G>C (p.Leu1322=) n.612-19297C>G c.3612G>C (p.Leu1204=) c.3255G>C (p.Leu1085=) | |
2 | g.166228898C>T | CA429899374 | SCN1A-AS1,SCN9A | c.3999G>A (p.Leu1333=) c.3843G>A (p.Leu1281=) c.3966G>A (p.Leu1322=) n.612-19297C>T c.3612G>A (p.Leu1204=) c.3255G>A (p.Leu1085=) | |
2 | g.166228899A>C | CA349064340 | SCN1A-AS1,SCN9A | c.3998T>G (p.Leu1333Arg) c.3842T>G (p.Leu1281Arg) c.3965T>G (p.Leu1322Arg) n.612-19296A>C c.3611T>G (p.Leu1204Arg) c.3254T>G (p.Leu1085Arg) | |
2 | g.166228899A>G | CA349064342 | SCN1A-AS1,SCN9A | c.3998T>C (p.Leu1333Pro) c.3842T>C (p.Leu1281Pro) c.3965T>C (p.Leu1322Pro) n.612-19296A>G c.3611T>C (p.Leu1204Pro) c.3254T>C (p.Leu1085Pro) | |
2 | g.166228899A>T | CA349064344 | SCN1A-AS1,SCN9A | c.3998T>A (p.Leu1333Gln) c.3842T>A (p.Leu1281Gln) c.3965T>A (p.Leu1322Gln) n.612-19296A>T c.3611T>A (p.Leu1204Gln) c.3254T>A (p.Leu1085Gln) | |
2 | g.166228900G>A | CA429899377 | SCN1A-AS1,SCN9A | c.3997C>T (p.Leu1333=) c.3841C>T (p.Leu1281=) c.3964C>T (p.Leu1322=) n.612-19295G>A c.3610C>T (p.Leu1204=) c.3253C>T (p.Leu1085=) | ClinVar dbSNP gnomAD v4 |
2 | g.166228900G>C | CA349064347 | SCN1A-AS1,SCN9A | c.3997C>G (p.Leu1333Val) c.3841C>G (p.Leu1281Val) c.3964C>G (p.Leu1322Val) n.612-19295G>C c.3610C>G (p.Leu1204Val) c.3253C>G (p.Leu1085Val) | ClinVar |
2 | g.166228900G= | CA1304943698 | SCN1A-AS1,SCN9A | c.3997C= (p.Leu1333=) c.3841C= (p.Leu1281=) c.3964C= (p.Leu1322=) n.612-19295G= c.3610C= (p.Leu1204=) c.3253C= (p.Leu1085=) | |
2 | g.166228900G>T | CA349064349 | SCN1A-AS1,SCN9A | c.3997C>A (p.Leu1333Met) c.3841C>A (p.Leu1281Met) c.3964C>A (p.Leu1322Met) n.612-19295G>T c.3610C>A (p.Leu1204Met) c.3253C>A (p.Leu1085Met) | |
2 | g.166228901C>A | CA349064351 | SCN1A-AS1,SCN9A | c.3996G>T (p.Trp1332Cys) c.3840G>T (p.Trp1280Cys) c.3963G>T (p.Trp1321Cys) n.612-19294C>A c.3609G>T (p.Trp1203Cys) c.3252G>T (p.Trp1084Cys) | ClinVar dbSNP |
2 | g.166228901C= | CA1304943699 | SCN1A-AS1,SCN9A | c.3996G= (p.Trp1332=) c.3840G= (p.Trp1280=) c.3963G= (p.Trp1321=) n.612-19294C= c.3609G= (p.Trp1203=) c.3252G= (p.Trp1084=) | |
2 | g.166228901C>G | CA349064355 | SCN1A-AS1,SCN9A | c.3996G>C (p.Trp1332Cys) c.3840G>C (p.Trp1280Cys) c.3963G>C (p.Trp1321Cys) n.612-19294C>G c.3609G>C (p.Trp1203Cys) c.3252G>C (p.Trp1084Cys) | |
2 | g.166228901C>T | CA349064359 | SCN1A-AS1,SCN9A | c.3996G>A (p.Trp1332Ter) c.3840G>A (p.Trp1280Ter) c.3963G>A (p.Trp1321Ter) n.612-19294C>T c.3609G>A (p.Trp1203Ter) c.3252G>A (p.Trp1084Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.166228902C>A | CA349064362 | SCN1A-AS1,SCN9A | c.3995G>T (p.Trp1332Leu) c.3839G>T (p.Trp1280Leu) c.3962G>T (p.Trp1321Leu) n.612-19293C>A c.3608G>T (p.Trp1203Leu) c.3251G>T (p.Trp1084Leu) | |
2 | g.166228902C= | CA1304943700 | SCN1A-AS1,SCN9A | c.3995G= (p.Trp1332=) c.3839G= (p.Trp1280=) c.3962G= (p.Trp1321=) n.612-19293C= c.3608G= (p.Trp1203=) c.3251G= (p.Trp1084=) | |
2 | g.166228902C>G | CA349064366 | SCN1A-AS1,SCN9A | c.3995G>C (p.Trp1332Ser) c.3839G>C (p.Trp1280Ser) c.3962G>C (p.Trp1321Ser) n.612-19293C>G c.3608G>C (p.Trp1203Ser) c.3251G>C (p.Trp1084Ser) | |
2 | g.166228902C>T | CA349064370 | SCN1A-AS1,SCN9A | c.3995G>A (p.Trp1332Ter) c.3839G>A (p.Trp1280Ter) c.3962G>A (p.Trp1321Ter) n.612-19293C>T c.3608G>A (p.Trp1203Ter) c.3251G>A (p.Trp1084Ter) | ClinVar dbSNP |
2 | g.166228903A>C | CA349064372 | SCN1A-AS1,SCN9A | c.3994T>G (p.Trp1332Gly) c.3838T>G (p.Trp1280Gly) c.3961T>G (p.Trp1321Gly) n.612-19292A>C c.3607T>G (p.Trp1203Gly) c.3250T>G (p.Trp1084Gly) | |
2 | g.166228903A>G | CA349064376 | SCN1A-AS1,SCN9A | c.3994T>C (p.Trp1332Arg) c.3838T>C (p.Trp1280Arg) c.3961T>C (p.Trp1321Arg) n.612-19292A>G c.3607T>C (p.Trp1203Arg) c.3250T>C (p.Trp1084Arg) | |
2 | g.166228903A>T | CA349064378 | SCN1A-AS1,SCN9A | c.3994T>A (p.Trp1332Arg) c.3838T>A (p.Trp1280Arg) c.3961T>A (p.Trp1321Arg) n.612-19292A>T c.3607T>A (p.Trp1203Arg) c.3250T>A (p.Trp1084Arg) | |
2 | g.166228904G>A | CA429899378 | SCN1A-AS1,SCN9A | c.3993C>T (p.Phe1331=) c.3837C>T (p.Phe1279=) c.3960C>T (p.Phe1320=) n.612-19291G>A c.3606C>T (p.Phe1202=) c.3249C>T (p.Phe1083=) | gnomAD v4 |
2 | g.166228904G>C | CA349064382 | SCN1A-AS1,SCN9A | c.3993C>G (p.Phe1331Leu) c.3837C>G (p.Phe1279Leu) c.3960C>G (p.Phe1320Leu) n.612-19291G>C c.3606C>G (p.Phe1202Leu) c.3249C>G (p.Phe1083Leu) | gnomAD v4 |
2 | g.166228904G>T | CA349064384 | SCN1A-AS1,SCN9A | c.3993C>A (p.Phe1331Leu) c.3837C>A (p.Phe1279Leu) c.3960C>A (p.Phe1320Leu) n.612-19291G>T c.3606C>A (p.Phe1202Leu) c.3249C>A (p.Phe1083Leu) | |
2 | g.166228905A= | CA1304943701 | SCN1A-AS1,SCN9A | c.3992T= (p.Phe1331=) c.3836T= (p.Phe1279=) c.3959T= (p.Phe1320=) n.612-19290A= c.3605T= (p.Phe1202=) c.3248T= (p.Phe1083=) | |
2 | g.166228905A>C | CA349064405 | SCN1A-AS1,SCN9A | c.3992T>G (p.Phe1331Cys) c.3836T>G (p.Phe1279Cys) c.3959T>G (p.Phe1320Cys) n.612-19290A>C c.3605T>G (p.Phe1202Cys) c.3248T>G (p.Phe1083Cys) | |
2 | g.166228905A>G | CA349064393 | SCN1A-AS1,SCN9A | c.3992T>C (p.Phe1331Ser) c.3836T>C (p.Phe1279Ser) c.3959T>C (p.Phe1320Ser) n.612-19290A>G c.3605T>C (p.Phe1202Ser) c.3248T>C (p.Phe1083Ser) | dbSNP gnomAD v4 |
2 | g.166228905A>T | CA349064388 | SCN1A-AS1,SCN9A | c.3992T>A (p.Phe1331Tyr) c.3836T>A (p.Phe1279Tyr) c.3959T>A (p.Phe1320Tyr) n.612-19290A>T c.3605T>A (p.Phe1202Tyr) c.3248T>A (p.Phe1083Tyr) | |
2 | g.166228906A>C | CA349064409 | SCN1A-AS1,SCN9A | c.3991T>G (p.Phe1331Val) c.3835T>G (p.Phe1279Val) c.3958T>G (p.Phe1320Val) n.612-19289A>C c.3604T>G (p.Phe1202Val) c.3247T>G (p.Phe1083Val) | gnomAD v4 |
2 | g.166228906A>G | CA349064415 | SCN1A-AS1,SCN9A | c.3991T>C (p.Phe1331Leu) c.3835T>C (p.Phe1279Leu) c.3958T>C (p.Phe1320Leu) n.612-19289A>G c.3604T>C (p.Phe1202Leu) c.3247T>C (p.Phe1083Leu) | |
2 | g.166228906A>T | CA349064411 | SCN1A-AS1,SCN9A | c.3991T>A (p.Phe1331Ile) c.3835T>A (p.Phe1279Ile) c.3958T>A (p.Phe1320Ile) n.612-19289A>T c.3604T>A (p.Phe1202Ile) c.3247T>A (p.Phe1083Ile) | |
2 | g.166228907T>A | CA429899380 | SCN1A-AS1,SCN9A | c.3990A>T (p.Ile1330=) c.3834A>T (p.Ile1278=) c.3957A>T (p.Ile1319=) n.612-19288T>A c.3603A>T (p.Ile1201=) c.3246A>T (p.Ile1082=) | |
2 | g.166228907T>C | CA349064417 | SCN1A-AS1,SCN9A | c.3990A>G (p.Ile1330Met) c.3834A>G (p.Ile1278Met) c.3957A>G (p.Ile1319Met) n.612-19288T>C c.3603A>G (p.Ile1201Met) c.3246A>G (p.Ile1082Met) | |
2 | g.166228907T>G | CA429899381 | SCN1A-AS1,SCN9A | c.3990A>C (p.Ile1330=) c.3834A>C (p.Ile1278=) c.3957A>C (p.Ile1319=) n.612-19288T>G c.3603A>C (p.Ile1201=) c.3246A>C (p.Ile1082=) | |
2 | g.166228908A>C | CA349064419 | SCN1A-AS1,SCN9A | c.3989T>G (p.Ile1330Arg) c.3833T>G (p.Ile1278Arg) c.3956T>G (p.Ile1319Arg) n.612-19287A>C c.3602T>G (p.Ile1201Arg) c.3245T>G (p.Ile1082Arg) | |
2 | g.166228908A>G | CA349064423 | SCN1A-AS1,SCN9A | c.3989T>C (p.Ile1330Thr) c.3833T>C (p.Ile1278Thr) c.3956T>C (p.Ile1319Thr) n.612-19287A>G c.3602T>C (p.Ile1201Thr) c.3245T>C (p.Ile1082Thr) | ClinVar |
2 | g.166228908A>T | CA349064425 | SCN1A-AS1,SCN9A | c.3989T>A (p.Ile1330Lys) c.3833T>A (p.Ile1278Lys) c.3956T>A (p.Ile1319Lys) n.612-19287A>T c.3602T>A (p.Ile1201Lys) c.3245T>A (p.Ile1082Lys) | |
2 | g.166228909T>A | CA349064429 | SCN1A-AS1,SCN9A | c.3988A>T (p.Ile1330Leu) c.3832A>T (p.Ile1278Leu) c.3955A>T (p.Ile1319Leu) n.612-19286T>A c.3601A>T (p.Ile1201Leu) c.3244A>T (p.Ile1082Leu) | |
2 | g.166228909T>C | CA349064431 | SCN1A-AS1,SCN9A | c.3988A>G (p.Ile1330Val) c.3832A>G (p.Ile1278Val) c.3955A>G (p.Ile1319Val) n.612-19286T>C c.3601A>G (p.Ile1201Val) c.3244A>G (p.Ile1082Val) | |
2 | g.166228909T>G | CA349064433 | SCN1A-AS1,SCN9A | c.3988A>C (p.Ile1330Leu) c.3832A>C (p.Ile1278Leu) c.3955A>C (p.Ile1319Leu) n.612-19286T>G c.3601A>C (p.Ile1201Leu) c.3244A>C (p.Ile1082Leu) | |
2 | g.166228910A>C | CA429899385 | SCN1A-AS1,SCN9A | c.3987T>G (p.Leu1329=) c.3831T>G (p.Leu1277=) c.3954T>G (p.Leu1318=) n.612-19285A>C c.3600T>G (p.Leu1200=) c.3243T>G (p.Leu1081=) | |
2 | g.166228910A>G | CA429899383 | SCN1A-AS1,SCN9A | c.3987T>C (p.Leu1329=) c.3831T>C (p.Leu1277=) c.3954T>C (p.Leu1318=) n.612-19285A>G c.3600T>C (p.Leu1200=) c.3243T>C (p.Leu1081=) | |
2 | g.166228910A>T | CA429899384 | SCN1A-AS1,SCN9A | c.3987T>A (p.Leu1329=) c.3831T>A (p.Leu1277=) c.3954T>A (p.Leu1318=) n.612-19285A>T c.3600T>A (p.Leu1200=) c.3243T>A (p.Leu1081=) | |
2 | g.166228911A= | CA1304943702 | SCN1A-AS1,SCN9A | c.3986T= (p.Leu1329=) c.3830T= (p.Leu1277=) c.3953T= (p.Leu1318=) n.612-19284A= c.3599T= (p.Leu1200=) c.3242T= (p.Leu1081=) | |
2 | g.166228911A>C | CA349064435 | SCN1A-AS1,SCN9A | c.3986T>G (p.Leu1329Arg) c.3830T>G (p.Leu1277Arg) c.3953T>G (p.Leu1318Arg) n.612-19284A>C c.3599T>G (p.Leu1200Arg) c.3242T>G (p.Leu1081Arg) | |
2 | g.166228911A>G | CA349064436 | SCN1A-AS1,SCN9A | c.3986T>C (p.Leu1329Pro) c.3830T>C (p.Leu1277Pro) c.3953T>C (p.Leu1318Pro) n.612-19284A>G c.3599T>C (p.Leu1200Pro) c.3242T>C (p.Leu1081Pro) | |
2 | g.166228911A>T | CA1943965 | SCN1A-AS1,SCN9A | c.3986T>A (p.Leu1329His) c.3830T>A (p.Leu1277His) c.3953T>A (p.Leu1318His) n.612-19284A>T c.3599T>A (p.Leu1200His) c.3242T>A (p.Leu1081His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166228912G>A | CA349064437 | SCN1A-AS1,SCN9A | c.3985C>T (p.Leu1329Phe) c.3829C>T (p.Leu1277Phe) c.3952C>T (p.Leu1318Phe) n.612-19283G>A c.3598C>T (p.Leu1200Phe) c.3241C>T (p.Leu1081Phe) | |
2 | g.166228912G>C | CA349064440 | SCN1A-AS1,SCN9A | c.3985C>G (p.Leu1329Val) c.3829C>G (p.Leu1277Val) c.3952C>G (p.Leu1318Val) n.612-19283G>C c.3598C>G (p.Leu1200Val) c.3241C>G (p.Leu1081Val) | |
2 | g.166228912G>T | CA349064443 | SCN1A-AS1,SCN9A | c.3985C>A (p.Leu1329Ile) c.3829C>A (p.Leu1277Ile) c.3952C>A (p.Leu1318Ile) n.612-19283G>T c.3598C>A (p.Leu1200Ile) c.3241C>A (p.Leu1081Ile) | |
2 | g.166228913A= | CA1304943703 | SCN1A-AS1,SCN9A | c.3984T= (p.Cys1328=) c.3828T= (p.Cys1276=) c.3951T= (p.Cys1317=) n.612-19282A= c.3597T= (p.Cys1199=) c.3240T= (p.Cys1080=) | |
2 | g.166228913A>C | CA349064448 | SCN1A-AS1,SCN9A | c.3984T>G (p.Cys1328Trp) c.3828T>G (p.Cys1276Trp) c.3951T>G (p.Cys1317Trp) n.612-19282A>C c.3597T>G (p.Cys1199Trp) c.3240T>G (p.Cys1080Trp) | |
2 | g.166228913A>G | CA1943966 | SCN1A-AS1,SCN9A | c.3984T>C (p.Cys1328=) c.3828T>C (p.Cys1276=) c.3951T>C (p.Cys1317=) n.612-19282A>G c.3597T>C (p.Cys1199=) c.3240T>C (p.Cys1080=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166228913A>T | CA349064459 | SCN1A-AS1,SCN9A | c.3984T>A (p.Cys1328Ter) c.3828T>A (p.Cys1276Ter) c.3951T>A (p.Cys1317Ter) n.612-19282A>T c.3597T>A (p.Cys1199Ter) c.3240T>A (p.Cys1080Ter) | dbSNP |
2 | g.166228914C>A | CA349064464 | SCN1A-AS1,SCN9A | c.3983G>T (p.Cys1328Phe) c.3827G>T (p.Cys1276Phe) c.3950G>T (p.Cys1317Phe) n.612-19281C>A c.3596G>T (p.Cys1199Phe) c.3239G>T (p.Cys1080Phe) | |
2 | g.166228914C>G | CA349064467 | SCN1A-AS1,SCN9A | c.3983G>C (p.Cys1328Ser) c.3827G>C (p.Cys1276Ser) c.3950G>C (p.Cys1317Ser) n.612-19281C>G c.3596G>C (p.Cys1199Ser) c.3239G>C (p.Cys1080Ser) | |
2 | g.166228914C>T | CA349064471 | SCN1A-AS1,SCN9A | c.3983G>A (p.Cys1328Tyr) c.3827G>A (p.Cys1276Tyr) c.3950G>A (p.Cys1317Tyr) n.612-19281C>T c.3596G>A (p.Cys1199Tyr) c.3239G>A (p.Cys1080Tyr) | |
2 | g.166228915A>C | CA349064475 | SCN1A-AS1,SCN9A | c.3982T>G (p.Cys1328Gly) c.3826T>G (p.Cys1276Gly) c.3949T>G (p.Cys1317Gly) n.612-19280A>C c.3595T>G (p.Cys1199Gly) c.3238T>G (p.Cys1080Gly) | |
2 | g.166228915A>G | CA349064476 | SCN1A-AS1,SCN9A | c.3982T>C (p.Cys1328Arg) c.3826T>C (p.Cys1276Arg) c.3949T>C (p.Cys1317Arg) n.612-19280A>G c.3595T>C (p.Cys1199Arg) c.3238T>C (p.Cys1080Arg) | |
2 | g.166228915A>T | CA349064479 | SCN1A-AS1,SCN9A | c.3982T>A (p.Cys1328Ser) c.3826T>A (p.Cys1276Ser) c.3949T>A (p.Cys1317Ser) n.612-19280A>T c.3595T>A (p.Cys1199Ser) c.3238T>A (p.Cys1080Ser) | |
2 | g.166228916C>A | CA429899391 | SCN1A-AS1,SCN9A | c.3981G>T (p.Val1327=) c.3825G>T (p.Val1275=) c.3948G>T (p.Val1316=) n.612-19279C>A c.3594G>T (p.Val1198=) c.3237G>T (p.Val1079=) | gnomAD v4 |
2 | g.166228916C= | CA1304943704 | SCN1A-AS1,SCN9A | c.3981G= (p.Val1327=) c.3825G= (p.Val1275=) c.3948G= (p.Val1316=) n.612-19279C= c.3594G= (p.Val1198=) c.3237G= (p.Val1079=) | |
2 | g.166228916C>G | CA429899392 | SCN1A-AS1,SCN9A | c.3981G>C (p.Val1327=) c.3825G>C (p.Val1275=) c.3948G>C (p.Val1316=) n.612-19279C>G c.3594G>C (p.Val1198=) c.3237G>C (p.Val1079=) | |
2 | g.166228916C>T | CA1943967 | SCN1A-AS1,SCN9A | c.3981G>A (p.Val1327=) c.3825G>A (p.Val1275=) c.3948G>A (p.Val1316=) n.612-19279C>T c.3594G>A (p.Val1198=) c.3237G>A (p.Val1079=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166228917A>C | CA349064484 | SCN1A-AS1,SCN9A | c.3980T>G (p.Val1327Gly) c.3824T>G (p.Val1275Gly) c.3947T>G (p.Val1316Gly) n.612-19278A>C c.3593T>G (p.Val1198Gly) c.3236T>G (p.Val1079Gly) | dbSNP |
2 | g.166228917A>G | CA349064498 | SCN1A-AS1,SCN9A | c.3980T>C (p.Val1327Ala) c.3824T>C (p.Val1275Ala) c.3947T>C (p.Val1316Ala) n.612-19278A>G c.3593T>C (p.Val1198Ala) c.3236T>C (p.Val1079Ala) | |
2 | g.166228917A>T | CA349064502 | SCN1A-AS1,SCN9A | c.3980T>A (p.Val1327Glu) c.3824T>A (p.Val1275Glu) c.3947T>A (p.Val1316Glu) n.612-19278A>T c.3593T>A (p.Val1198Glu) c.3236T>A (p.Val1079Glu) | |
2 | g.166228918C>A | CA349064520 | SCN1A-AS1,SCN9A | c.3979G>T (p.Val1327Leu) c.3823G>T (p.Val1275Leu) c.3946G>T (p.Val1316Leu) n.612-19277C>A c.3592G>T (p.Val1198Leu) c.3235G>T (p.Val1079Leu) | ClinVar |
2 | g.166228918C>G | CA349064510 | SCN1A-AS1,SCN9A | c.3979G>C (p.Val1327Leu) c.3823G>C (p.Val1275Leu) c.3946G>C (p.Val1316Leu) n.612-19277C>G c.3592G>C (p.Val1198Leu) c.3235G>C (p.Val1079Leu) | |
2 | g.166228918C>T | CA349064506 | SCN1A-AS1,SCN9A | c.3979G>A (p.Val1327Met) c.3823G>A (p.Val1275Met) c.3946G>A (p.Val1316Met) n.612-19277C>T c.3592G>A (p.Val1198Met) c.3235G>A (p.Val1079Met) | |
2 | g.166228919A>C | CA429899394 | SCN1A-AS1,SCN9A | c.3978T>G (p.Leu1326=) c.3822T>G (p.Leu1274=) c.3945T>G (p.Leu1315=) n.612-19276A>C c.3591T>G (p.Leu1197=) c.3234T>G (p.Leu1078=) | |
2 | g.166228919A>G | CA429899395 | SCN1A-AS1,SCN9A | c.3978T>C (p.Leu1326=) c.3822T>C (p.Leu1274=) c.3945T>C (p.Leu1315=) n.612-19276A>G c.3591T>C (p.Leu1197=) c.3234T>C (p.Leu1078=) | |
2 | g.166228919A>T | CA429899397 | SCN1A-AS1,SCN9A | c.3978T>A (p.Leu1326=) c.3822T>A (p.Leu1274=) c.3945T>A (p.Leu1315=) n.612-19276A>T c.3591T>A (p.Leu1197=) c.3234T>A (p.Leu1078=) | |
2 | g.166228920A>C | CA349064522 | SCN1A-AS1,SCN9A | c.3977T>G (p.Leu1326Arg) c.3821T>G (p.Leu1274Arg) c.3944T>G (p.Leu1315Arg) n.612-19275A>C c.3590T>G (p.Leu1197Arg) c.3233T>G (p.Leu1078Arg) | |
2 | g.166228920A>G | CA349064524 | SCN1A-AS1,SCN9A | c.3977T>C (p.Leu1326Pro) c.3821T>C (p.Leu1274Pro) c.3944T>C (p.Leu1315Pro) n.612-19275A>G c.3590T>C (p.Leu1197Pro) c.3233T>C (p.Leu1078Pro) | |
2 | g.166228920A>T | CA349064529 | SCN1A-AS1,SCN9A | c.3977T>A (p.Leu1326His) c.3821T>A (p.Leu1274His) c.3944T>A (p.Leu1315His) n.612-19275A>T c.3590T>A (p.Leu1197His) c.3233T>A (p.Leu1078His) | |
2 | g.166228921G>A | CA349064532 | SCN1A-AS1,SCN9A | c.3976C>T (p.Leu1326Phe) c.3820C>T (p.Leu1274Phe) c.3943C>T (p.Leu1315Phe) n.612-19274G>A c.3589C>T (p.Leu1197Phe) c.3232C>T (p.Leu1078Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228921G>C | CA349064535 | SCN1A-AS1,SCN9A | c.3976C>G (p.Leu1326Val) c.3820C>G (p.Leu1274Val) c.3943C>G (p.Leu1315Val) n.612-19274G>C c.3589C>G (p.Leu1197Val) c.3232C>G (p.Leu1078Val) | |
2 | g.166228921G= | CA1304943705 | SCN1A-AS1,SCN9A | c.3976C= (p.Leu1326=) c.3820C= (p.Leu1274=) c.3943C= (p.Leu1315=) n.612-19274G= c.3589C= (p.Leu1197=) c.3232C= (p.Leu1078=) | |
2 | g.166228921G>T | CA349064538 | SCN1A-AS1,SCN9A | c.3976C>A (p.Leu1326Ile) c.3820C>A (p.Leu1274Ile) c.3943C>A (p.Leu1315Ile) n.612-19274G>T c.3589C>A (p.Leu1197Ile) c.3232C>A (p.Leu1078Ile) | |
2 | g.166228921_166228922del | CA2753023369 | SCN1A-AS1,SCN9A | c.3975_3976del (p.Leu1326CysfsTer23) c.3819_3820del (p.Leu1274CysfsTer23) c.3942_3943del (p.Leu1315CysfsTer23) n.612-19274_612-19273del c.3588_3589del (p.Leu1197CysfsTer23) c.3231_3232del (p.Leu1078CysfsTer23) | |
2 | g.166228922T>A | CA429899400 | SCN1A-AS1,SCN9A | c.3975A>T (p.Leu1325=) c.3819A>T (p.Leu1273=) c.3942A>T (p.Leu1314=) n.612-19273T>A c.3588A>T (p.Leu1196=) c.3231A>T (p.Leu1077=) | |
2 | g.166228922T>C | CA1943968 | SCN1A-AS1,SCN9A | c.3975A>G (p.Leu1325=) c.3819A>G (p.Leu1273=) c.3942A>G (p.Leu1314=) n.612-19273T>C c.3588A>G (p.Leu1196=) c.3231A>G (p.Leu1077=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228922T>G | CA429899401 | SCN1A-AS1,SCN9A | c.3975A>C (p.Leu1325=) c.3819A>C (p.Leu1273=) c.3942A>C (p.Leu1314=) n.612-19273T>G c.3588A>C (p.Leu1196=) c.3231A>C (p.Leu1077=) | |
2 | g.166228922T= | CA1304943706 | SCN1A-AS1,SCN9A | c.3975A= (p.Leu1325=) c.3819A= (p.Leu1273=) c.3942A= (p.Leu1314=) n.612-19273T= c.3588A= (p.Leu1196=) c.3231A= (p.Leu1077=) | |
2 | g.166228923A>C | CA349064553 | SCN1A-AS1,SCN9A | c.3974T>G (p.Leu1325Arg) c.3818T>G (p.Leu1273Arg) c.3941T>G (p.Leu1314Arg) n.612-19272A>C c.3587T>G (p.Leu1196Arg) c.3230T>G (p.Leu1077Arg) | |
2 | g.166228923A>G | CA349064557 | SCN1A-AS1,SCN9A | c.3974T>C (p.Leu1325Pro) c.3818T>C (p.Leu1273Pro) c.3941T>C (p.Leu1314Pro) n.612-19272A>G c.3587T>C (p.Leu1196Pro) c.3230T>C (p.Leu1077Pro) | |
2 | g.166228923A>T | CA349064559 | SCN1A-AS1,SCN9A | c.3974T>A (p.Leu1325Gln) c.3818T>A (p.Leu1273Gln) c.3941T>A (p.Leu1314Gln) n.612-19272A>T c.3587T>A (p.Leu1196Gln) c.3230T>A (p.Leu1077Gln) | |
2 | g.166228924G>A | CA1943969 | SCN1A-AS1,SCN9A | c.3973C>T (p.Leu1325=) c.3817C>T (p.Leu1273=) c.3940C>T (p.Leu1314=) n.612-19271G>A c.3586C>T (p.Leu1196=) c.3229C>T (p.Leu1077=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166228924G>C | CA349064563 | SCN1A-AS1,SCN9A | c.3973C>G (p.Leu1325Val) c.3817C>G (p.Leu1273Val) c.3940C>G (p.Leu1314Val) n.612-19271G>C c.3586C>G (p.Leu1196Val) c.3229C>G (p.Leu1077Val) | |
2 | g.166228924G= | CA1304943707 | SCN1A-AS1,SCN9A | c.3973C= (p.Leu1325=) c.3817C= (p.Leu1273=) c.3940C= (p.Leu1314=) n.612-19271G= c.3586C= (p.Leu1196=) c.3229C= (p.Leu1077=) | |
2 | g.166228924G>T | CA349064567 | SCN1A-AS1,SCN9A | c.3973C>A (p.Leu1325Ile) c.3817C>A (p.Leu1273Ile) c.3940C>A (p.Leu1314Ile) n.612-19271G>T c.3586C>A (p.Leu1196Ile) c.3229C>A (p.Leu1077Ile) | |
2 | g.166228925C>A | CA429899405 | SCN1A-AS1,SCN9A | c.3972G>T (p.Val1324=) c.3816G>T (p.Val1272=) c.3939G>T (p.Val1313=) n.612-19270C>A c.3585G>T (p.Val1195=) c.3228G>T (p.Val1076=) | |
2 | g.166228925C= | CA1304943708 | SCN1A-AS1,SCN9A | c.3972G= (p.Val1324=) c.3816G= (p.Val1272=) c.3939G= (p.Val1313=) n.612-19270C= c.3585G= (p.Val1195=) c.3228G= (p.Val1076=) | |
2 | g.166228925C>G | CA429899406 | SCN1A-AS1,SCN9A | c.3972G>C (p.Val1324=) c.3816G>C (p.Val1272=) c.3939G>C (p.Val1313=) n.612-19270C>G c.3585G>C (p.Val1195=) c.3228G>C (p.Val1076=) | |
2 | g.166228925C>T | CA429899407 | SCN1A-AS1,SCN9A | c.3972G>A (p.Val1324=) c.3816G>A (p.Val1272=) c.3939G>A (p.Val1313=) n.612-19270C>T c.3585G>A (p.Val1195=) c.3228G>A (p.Val1076=) | dbSNP |
2 | g.166228926A= | CA1304943709 | SCN1A-AS1,SCN9A | c.3971T= (p.Val1324=) c.3815T= (p.Val1272=) c.3938T= (p.Val1313=) n.612-19269A= c.3584T= (p.Val1195=) c.3227T= (p.Val1076=) | |
2 | g.166228926A>C | CA1943970 | SCN1A-AS1,SCN9A | c.3971T>G (p.Val1324Gly) c.3815T>G (p.Val1272Gly) c.3938T>G (p.Val1313Gly) n.612-19269A>C c.3584T>G (p.Val1195Gly) c.3227T>G (p.Val1076Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166228926A>G | CA349064570 | SCN1A-AS1,SCN9A | c.3971T>C (p.Val1324Ala) c.3815T>C (p.Val1272Ala) c.3938T>C (p.Val1313Ala) n.612-19269A>G c.3584T>C (p.Val1195Ala) c.3227T>C (p.Val1076Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228926A>T | CA349064572 | SCN1A-AS1,SCN9A | c.3971T>A (p.Val1324Glu) c.3815T>A (p.Val1272Glu) c.3938T>A (p.Val1313Glu) n.612-19269A>T c.3584T>A (p.Val1195Glu) c.3227T>A (p.Val1076Glu) | |
2 | g.166228927C>A | CA349064579 | SCN1A-AS1,SCN9A | c.3970G>T (p.Val1324Leu) c.3814G>T (p.Val1272Leu) c.3937G>T (p.Val1313Leu) n.612-19268C>A c.3583G>T (p.Val1195Leu) c.3226G>T (p.Val1076Leu) | |
2 | g.166228927C= | CA1304943710 | SCN1A-AS1,SCN9A | c.3970G= (p.Val1324=) c.3814G= (p.Val1272=) c.3937G= (p.Val1313=) n.612-19268C= c.3583G= (p.Val1195=) c.3226G= (p.Val1076=) | |
2 | g.166228927C>G | CA349064582 | SCN1A-AS1,SCN9A | c.3970G>C (p.Val1324Leu) c.3814G>C (p.Val1272Leu) c.3937G>C (p.Val1313Leu) n.612-19268C>G c.3583G>C (p.Val1195Leu) c.3226G>C (p.Val1076Leu) | |
2 | g.166228927C>T | CA349064583 | SCN1A-AS1,SCN9A | c.3970G>A (p.Val1324Met) c.3814G>A (p.Val1272Met) c.3937G>A (p.Val1313Met) n.612-19268C>T c.3583G>A (p.Val1195Met) c.3226G>A (p.Val1076Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228928A>C | CA349064586 | SCN1A-AS1,SCN9A | c.3969T>G (p.Asn1323Lys) c.3813T>G (p.Asn1271Lys) c.3936T>G (p.Asn1312Lys) n.612-19267A>C c.3582T>G (p.Asn1194Lys) c.3225T>G (p.Asn1075Lys) | |
2 | g.166228928A>G | CA429899411 | SCN1A-AS1,SCN9A | c.3969T>C (p.Asn1323=) c.3813T>C (p.Asn1271=) c.3936T>C (p.Asn1312=) n.612-19267A>G c.3582T>C (p.Asn1194=) c.3225T>C (p.Asn1075=) | |
2 | g.166228928A>T | CA349064589 | SCN1A-AS1,SCN9A | c.3969T>A (p.Asn1323Lys) c.3813T>A (p.Asn1271Lys) c.3936T>A (p.Asn1312Lys) n.612-19267A>T c.3582T>A (p.Asn1194Lys) c.3225T>A (p.Asn1075Lys) | |
2 | g.166228929T>A | CA349064598 | SCN1A-AS1,SCN9A | c.3968A>T (p.Asn1323Ile) c.3812A>T (p.Asn1271Ile) c.3935A>T (p.Asn1312Ile) n.612-19266T>A c.3581A>T (p.Asn1194Ile) c.3224A>T (p.Asn1075Ile) | |
2 | g.166228929T>C | CA349064601 | SCN1A-AS1,SCN9A | c.3968A>G (p.Asn1323Ser) c.3812A>G (p.Asn1271Ser) c.3935A>G (p.Asn1312Ser) n.612-19266T>C c.3581A>G (p.Asn1194Ser) c.3224A>G (p.Asn1075Ser) | dbSNP |
2 | g.166228929T>G | CA349064604 | SCN1A-AS1,SCN9A | c.3968A>C (p.Asn1323Thr) c.3812A>C (p.Asn1271Thr) c.3935A>C (p.Asn1312Thr) n.612-19266T>G c.3581A>C (p.Asn1194Thr) c.3224A>C (p.Asn1075Thr) | |
2 | g.166228929T= | CA1304943711 | SCN1A-AS1,SCN9A | c.3968A= (p.Asn1323=) c.3812A= (p.Asn1271=) c.3935A= (p.Asn1312=) n.612-19266T= c.3581A= (p.Asn1194=) c.3224A= (p.Asn1075=) | |
2 | g.166228930T>A | CA349064607 | SCN1A-AS1,SCN9A | c.3967A>T (p.Asn1323Tyr) c.3811A>T (p.Asn1271Tyr) c.3934A>T (p.Asn1312Tyr) n.612-19265T>A c.3580A>T (p.Asn1194Tyr) c.3223A>T (p.Asn1075Tyr) | |
2 | g.166228930T>C | CA349064608 | SCN1A-AS1,SCN9A | c.3967A>G (p.Asn1323Asp) c.3811A>G (p.Asn1271Asp) c.3934A>G (p.Asn1312Asp) n.612-19265T>C c.3580A>G (p.Asn1194Asp) c.3223A>G (p.Asn1075Asp) | |
2 | g.166228930T>G | CA349064610 | SCN1A-AS1,SCN9A | c.3967A>C (p.Asn1323His) c.3811A>C (p.Asn1271His) c.3934A>C (p.Asn1312His) n.612-19265T>G c.3580A>C (p.Asn1194His) c.3223A>C (p.Asn1075His) | |
2 | g.166228931C>A | CA349064638 | SCN1A-AS1,SCN9A | c.3966G>T (p.Met1322Ile) c.3810G>T (p.Met1270Ile) c.3933G>T (p.Met1311Ile) n.612-19264C>A c.3579G>T (p.Met1193Ile) c.3222G>T (p.Met1074Ile) | |
2 | g.166228931C>G | CA349064619 | SCN1A-AS1,SCN9A | c.3966G>C (p.Met1322Ile) c.3810G>C (p.Met1270Ile) c.3933G>C (p.Met1311Ile) n.612-19264C>G c.3579G>C (p.Met1193Ile) c.3222G>C (p.Met1074Ile) | |
2 | g.166228931C>T | CA349064616 | SCN1A-AS1,SCN9A | c.3966G>A (p.Met1322Ile) c.3810G>A (p.Met1270Ile) c.3933G>A (p.Met1311Ile) n.612-19264C>T c.3579G>A (p.Met1193Ile) c.3222G>A (p.Met1074Ile) | |
2 | g.166228932A>C | CA349064646 | SCN1A-AS1,SCN9A | c.3965T>G (p.Met1322Arg) c.3809T>G (p.Met1270Arg) c.3932T>G (p.Met1311Arg) n.612-19263A>C c.3578T>G (p.Met1193Arg) c.3221T>G (p.Met1074Arg) | |
2 | g.166228932A>G | CA349064651 | SCN1A-AS1,SCN9A | c.3965T>C (p.Met1322Thr) c.3809T>C (p.Met1270Thr) c.3932T>C (p.Met1311Thr) n.612-19263A>G c.3578T>C (p.Met1193Thr) c.3221T>C (p.Met1074Thr) | |
2 | g.166228932A>T | CA349064649 | SCN1A-AS1,SCN9A | c.3965T>A (p.Met1322Lys) c.3809T>A (p.Met1270Lys) c.3932T>A (p.Met1311Lys) n.612-19263A>T c.3578T>A (p.Met1193Lys) c.3221T>A (p.Met1074Lys) | |
2 | g.166228933T>A | CA349064654 | SCN1A-AS1,SCN9A | c.3964A>T (p.Met1322Leu) c.3808A>T (p.Met1270Leu) c.3931A>T (p.Met1311Leu) n.612-19262T>A c.3577A>T (p.Met1193Leu) c.3220A>T (p.Met1074Leu) | |
2 | g.166228933T>C | CA1943971 | SCN1A-AS1,SCN9A | c.3964A>G (p.Met1322Val) c.3808A>G (p.Met1270Val) c.3931A>G (p.Met1311Val) n.612-19262T>C c.3577A>G (p.Met1193Val) c.3220A>G (p.Met1074Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228933T>G | CA349064658 | SCN1A-AS1,SCN9A | c.3964A>C (p.Met1322Leu) c.3808A>C (p.Met1270Leu) c.3931A>C (p.Met1311Leu) n.612-19262T>G c.3577A>C (p.Met1193Leu) c.3220A>C (p.Met1074Leu) | |
2 | g.166228933T= | CA1304943712 | SCN1A-AS1,SCN9A | c.3964A= (p.Met1322=) c.3808A= (p.Met1270=) c.3931A= (p.Met1311=) n.612-19262T= c.3577A= (p.Met1193=) c.3220A= (p.Met1074=) | |
2 | g.166228934G>A | CA429899417 | SCN1A-AS1,SCN9A | c.3963C>T (p.Ile1321=) c.3807C>T (p.Ile1269=) c.3930C>T (p.Ile1310=) n.612-19261G>A c.3576C>T (p.Ile1192=) c.3219C>T (p.Ile1073=) | |
2 | g.166228934G>C | CA59810347 | SCN1A-AS1,SCN9A | c.3963C>G (p.Ile1321Met) c.3807C>G (p.Ile1269Met) c.3930C>G (p.Ile1310Met) n.612-19261G>C c.3576C>G (p.Ile1192Met) c.3219C>G (p.Ile1073Met) | dbSNP gnomAD v4 |
2 | g.166228934G= | CA1304943713 | SCN1A-AS1,SCN9A | c.3963C= (p.Ile1321=) c.3807C= (p.Ile1269=) c.3930C= (p.Ile1310=) n.612-19261G= c.3576C= (p.Ile1192=) c.3219C= (p.Ile1073=) | |
2 | g.166228934G>T | CA429899418 | SCN1A-AS1,SCN9A | c.3963C>A (p.Ile1321=) c.3807C>A (p.Ile1269=) c.3930C>A (p.Ile1310=) n.612-19261G>T c.3576C>A (p.Ile1192=) c.3219C>A (p.Ile1073=) | |
2 | g.166228935A>C | CA349064667 | SCN1A-AS1,SCN9A | c.3962T>G (p.Ile1321Ser) c.3806T>G (p.Ile1269Ser) c.3929T>G (p.Ile1310Ser) n.612-19260A>C c.3575T>G (p.Ile1192Ser) c.3218T>G (p.Ile1073Ser) | |
2 | g.166228935A>G | CA349064665 | SCN1A-AS1,SCN9A | c.3962T>C (p.Ile1321Thr) c.3806T>C (p.Ile1269Thr) c.3929T>C (p.Ile1310Thr) n.612-19260A>G c.3575T>C (p.Ile1192Thr) c.3218T>C (p.Ile1073Thr) | |
2 | g.166228935A>T | CA349064671 | SCN1A-AS1,SCN9A | c.3962T>A (p.Ile1321Asn) c.3806T>A (p.Ile1269Asn) c.3929T>A (p.Ile1310Asn) n.612-19260A>T c.3575T>A (p.Ile1192Asn) c.3218T>A (p.Ile1073Asn) | |
2 | g.166228936T>A | CA349064673 | SCN1A-AS1,SCN9A | c.3961A>T (p.Ile1321Phe) c.3805A>T (p.Ile1269Phe) c.3928A>T (p.Ile1310Phe) n.612-19259T>A c.3574A>T (p.Ile1192Phe) c.3217A>T (p.Ile1073Phe) | dbSNP |
2 | g.166228936T>C | CA349064674 | SCN1A-AS1,SCN9A | c.3961A>G (p.Ile1321Val) c.3805A>G (p.Ile1269Val) c.3928A>G (p.Ile1310Val) n.612-19259T>C c.3574A>G (p.Ile1192Val) c.3217A>G (p.Ile1073Val) | |
2 | g.166228936T>G | CA349064677 | SCN1A-AS1,SCN9A | c.3961A>C (p.Ile1321Leu) c.3805A>C (p.Ile1269Leu) c.3928A>C (p.Ile1310Leu) n.612-19259T>G c.3574A>C (p.Ile1192Leu) c.3217A>C (p.Ile1073Leu) | |
2 | g.166228936T= | CA1304943714 | SCN1A-AS1,SCN9A | c.3961A= (p.Ile1321=) c.3805A= (p.Ile1269=) c.3928A= (p.Ile1310=) n.612-19259T= c.3574A= (p.Ile1192=) c.3217A= (p.Ile1073=) | |
2 | g.166228937G>A | CA429899420 | SCN1A-AS1,SCN9A | c.3960C>T (p.Ser1320=) c.3804C>T (p.Ser1268=) c.3927C>T (p.Ser1309=) n.612-19258G>A c.3573C>T (p.Ser1191=) c.3216C>T (p.Ser1072=) | |
2 | g.166228937G>C | CA429899422 | SCN1A-AS1,SCN9A | c.3960C>G (p.Ser1320=) c.3804C>G (p.Ser1268=) c.3927C>G (p.Ser1309=) n.612-19258G>C c.3573C>G (p.Ser1191=) c.3216C>G (p.Ser1072=) | |
2 | g.166228937G>T | CA429899421 | SCN1A-AS1,SCN9A | c.3960C>A (p.Ser1320=) c.3804C>A (p.Ser1268=) c.3927C>A (p.Ser1309=) n.612-19258G>T c.3573C>A (p.Ser1191=) c.3216C>A (p.Ser1072=) | |
2 | g.166228938G>A | CA349064679 | SCN1A-AS1,SCN9A | c.3959C>T (p.Ser1320Phe) c.3803C>T (p.Ser1268Phe) c.3926C>T (p.Ser1309Phe) n.612-19257G>A c.3572C>T (p.Ser1191Phe) c.3215C>T (p.Ser1072Phe) | |
2 | g.166228938G>C | CA349064681 | SCN1A-AS1,SCN9A | c.3959C>G (p.Ser1320Cys) c.3803C>G (p.Ser1268Cys) c.3926C>G (p.Ser1309Cys) n.612-19257G>C c.3572C>G (p.Ser1191Cys) c.3215C>G (p.Ser1072Cys) | |
2 | g.166228938G>T | CA349064683 | SCN1A-AS1,SCN9A | c.3959C>A (p.Ser1320Tyr) c.3803C>A (p.Ser1268Tyr) c.3926C>A (p.Ser1309Tyr) n.612-19257G>T c.3572C>A (p.Ser1191Tyr) c.3215C>A (p.Ser1072Tyr) | |
2 | g.166228939A>C | CA349064685 | SCN1A-AS1,SCN9A | c.3958T>G (p.Ser1320Ala) c.3802T>G (p.Ser1268Ala) c.3925T>G (p.Ser1309Ala) n.612-19256A>C c.3571T>G (p.Ser1191Ala) c.3214T>G (p.Ser1072Ala) | |
2 | g.166228939A>G | CA349064686 | SCN1A-AS1,SCN9A | c.3958T>C (p.Ser1320Pro) c.3802T>C (p.Ser1268Pro) c.3925T>C (p.Ser1309Pro) n.612-19256A>G c.3571T>C (p.Ser1191Pro) c.3214T>C (p.Ser1072Pro) | |
2 | g.166228939A>T | CA349064687 | SCN1A-AS1,SCN9A | c.3958T>A (p.Ser1320Thr) c.3802T>A (p.Ser1268Thr) c.3925T>A (p.Ser1309Thr) n.612-19256A>T c.3571T>A (p.Ser1191Thr) c.3214T>A (p.Ser1072Thr) | |
2 | g.166228940A>C | CA429899425 | SCN1A-AS1,SCN9A | c.3957T>G (p.Pro1319=) c.3801T>G (p.Pro1267=) c.3924T>G (p.Pro1308=) n.612-19255A>C c.3570T>G (p.Pro1190=) c.3213T>G (p.Pro1071=) | gnomAD v4 |
2 | g.166228940A>G | CA429899426 | SCN1A-AS1,SCN9A | c.3957T>C (p.Pro1319=) c.3801T>C (p.Pro1267=) c.3924T>C (p.Pro1308=) n.612-19255A>G c.3570T>C (p.Pro1190=) c.3213T>C (p.Pro1071=) | |
2 | g.166228940A>T | CA429899427 | SCN1A-AS1,SCN9A | c.3957T>A (p.Pro1319=) c.3801T>A (p.Pro1267=) c.3924T>A (p.Pro1308=) n.612-19255A>T c.3570T>A (p.Pro1190=) c.3213T>A (p.Pro1071=) | |
2 | g.166228941G>A | CA349064688 | SCN1A-AS1,SCN9A | c.3956C>T (p.Pro1319Leu) c.3800C>T (p.Pro1267Leu) c.3923C>T (p.Pro1308Leu) n.612-19254G>A c.3569C>T (p.Pro1190Leu) c.3212C>T (p.Pro1071Leu) | |
2 | g.166228941G>C | CA349064689 | SCN1A-AS1,SCN9A | c.3956C>G (p.Pro1319Arg) c.3800C>G (p.Pro1267Arg) c.3923C>G (p.Pro1308Arg) n.612-19254G>C c.3569C>G (p.Pro1190Arg) c.3212C>G (p.Pro1071Arg) | |
2 | g.166228941G>T | CA349064690 | SCN1A-AS1,SCN9A | c.3956C>A (p.Pro1319His) c.3800C>A (p.Pro1267His) c.3923C>A (p.Pro1308His) n.612-19254G>T c.3569C>A (p.Pro1190His) c.3212C>A (p.Pro1071His) | |
2 | g.166228942G>A | CA59810349 | SCN1A-AS1,SCN9A | c.3955C>T (p.Pro1319Ser) c.3799C>T (p.Pro1267Ser) c.3922C>T (p.Pro1308Ser) n.612-19253G>A c.3568C>T (p.Pro1190Ser) c.3211C>T (p.Pro1071Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.166228942G>C | CA349064691 | SCN1A-AS1,SCN9A | c.3955C>G (p.Pro1319Ala) c.3799C>G (p.Pro1267Ala) c.3922C>G (p.Pro1308Ala) n.612-19253G>C c.3568C>G (p.Pro1190Ala) c.3211C>G (p.Pro1071Ala) | |
2 | g.166228942G= | CA1304943715 | SCN1A-AS1,SCN9A | c.3955C= (p.Pro1319=) c.3799C= (p.Pro1267=) c.3922C= (p.Pro1308=) n.612-19253G= c.3568C= (p.Pro1190=) c.3211C= (p.Pro1071=) | |
2 | g.166228942G>T | CA349064692 | SCN1A-AS1,SCN9A | c.3955C>A (p.Pro1319Thr) c.3799C>A (p.Pro1267Thr) c.3922C>A (p.Pro1308Thr) n.612-19253G>T c.3568C>A (p.Pro1190Thr) c.3211C>A (p.Pro1071Thr) | |
2 | g.166228943A>C | CA349064693 | SCN1A-AS1,SCN9A | c.3954T>G (p.Ile1318Met) c.3798T>G (p.Ile1266Met) c.3921T>G (p.Ile1307Met) n.612-19252A>C c.3567T>G (p.Ile1189Met) c.3210T>G (p.Ile1070Met) | |
2 | g.166228943A>G | CA429899432 | SCN1A-AS1,SCN9A | c.3954T>C (p.Ile1318=) c.3798T>C (p.Ile1266=) c.3921T>C (p.Ile1307=) n.612-19252A>G c.3567T>C (p.Ile1189=) c.3210T>C (p.Ile1070=) | |
2 | g.166228943A>T | CA429899431 | SCN1A-AS1,SCN9A | c.3954T>A (p.Ile1318=) c.3798T>A (p.Ile1266=) c.3921T>A (p.Ile1307=) n.612-19252A>T c.3567T>A (p.Ile1189=) c.3210T>A (p.Ile1070=) | |
2 | g.166228944A>C | CA349064694 | SCN1A-AS1,SCN9A | c.3953T>G (p.Ile1318Ser) c.3797T>G (p.Ile1266Ser) c.3920T>G (p.Ile1307Ser) n.612-19251A>C c.3566T>G (p.Ile1189Ser) c.3209T>G (p.Ile1070Ser) | |
2 | g.166228944A>G | CA349064695 | SCN1A-AS1,SCN9A | c.3953T>C (p.Ile1318Thr) c.3797T>C (p.Ile1266Thr) c.3920T>C (p.Ile1307Thr) n.612-19251A>G c.3566T>C (p.Ile1189Thr) c.3209T>C (p.Ile1070Thr) | |
2 | g.166228944A>T | CA349064696 | SCN1A-AS1,SCN9A | c.3953T>A (p.Ile1318Asn) c.3797T>A (p.Ile1266Asn) c.3920T>A (p.Ile1307Asn) n.612-19251A>T c.3566T>A (p.Ile1189Asn) c.3209T>A (p.Ile1070Asn) | |
2 | g.166228945T>A | CA349064697 | SCN1A-AS1,SCN9A | c.3952A>T (p.Ile1318Phe) c.3796A>T (p.Ile1266Phe) c.3919A>T (p.Ile1307Phe) n.612-19250T>A c.3565A>T (p.Ile1189Phe) c.3208A>T (p.Ile1070Phe) | |
2 | g.166228945T>C | CA349064698 | SCN1A-AS1,SCN9A | c.3952A>G (p.Ile1318Val) c.3796A>G (p.Ile1266Val) c.3919A>G (p.Ile1307Val) n.612-19250T>C c.3565A>G (p.Ile1189Val) c.3208A>G (p.Ile1070Val) | |
2 | g.166228945T>G | CA349064699 | SCN1A-AS1,SCN9A | c.3952A>C (p.Ile1318Leu) c.3796A>C (p.Ile1266Leu) c.3919A>C (p.Ile1307Leu) n.612-19250T>G c.3565A>C (p.Ile1189Leu) c.3208A>C (p.Ile1070Leu) | |
2 | g.166228946T>A | CA429899433 | SCN1A-AS1,SCN9A | c.3951A>T (p.Ala1317=) c.3795A>T (p.Ala1265=) c.3918A>T (p.Ala1306=) n.612-19249T>A c.3564A>T (p.Ala1188=) c.3207A>T (p.Ala1069=) | |
2 | g.166228946T>C | CA429899434 | SCN1A-AS1,SCN9A | c.3951A>G (p.Ala1317=) c.3795A>G (p.Ala1265=) c.3918A>G (p.Ala1306=) n.612-19249T>C c.3564A>G (p.Ala1188=) c.3207A>G (p.Ala1069=) | |
2 | g.166228946T>G | CA429899435 | SCN1A-AS1,SCN9A | c.3951A>C (p.Ala1317=) c.3795A>C (p.Ala1265=) c.3918A>C (p.Ala1306=) n.612-19249T>G c.3564A>C (p.Ala1188=) c.3207A>C (p.Ala1069=) | |
2 | g.166228947G>A | CA349064700 | SCN1A-AS1,SCN9A | c.3950C>T (p.Ala1317Val) c.3794C>T (p.Ala1265Val) c.3917C>T (p.Ala1306Val) n.612-19248G>A c.3563C>T (p.Ala1188Val) c.3206C>T (p.Ala1069Val) | |
2 | g.166228947G>C | CA349064701 | SCN1A-AS1,SCN9A | c.3950C>G (p.Ala1317Gly) c.3794C>G (p.Ala1265Gly) c.3917C>G (p.Ala1306Gly) n.612-19248G>C c.3563C>G (p.Ala1188Gly) c.3206C>G (p.Ala1069Gly) | |
2 | g.166228947G>T | CA349064702 | SCN1A-AS1,SCN9A | c.3950C>A (p.Ala1317Glu) c.3794C>A (p.Ala1265Glu) c.3917C>A (p.Ala1306Glu) n.612-19248G>T c.3563C>A (p.Ala1188Glu) c.3206C>A (p.Ala1069Glu) | |
2 | g.166228948C>A | CA349064705 | SCN1A-AS1,SCN9A | c.3949G>T (p.Ala1317Ser) c.3793G>T (p.Ala1265Ser) c.3916G>T (p.Ala1306Ser) n.612-19247C>A c.3562G>T (p.Ala1188Ser) c.3205G>T (p.Ala1069Ser) | |
2 | g.166228948C>G | CA349064704 | SCN1A-AS1,SCN9A | c.3949G>C (p.Ala1317Pro) c.3793G>C (p.Ala1265Pro) c.3916G>C (p.Ala1306Pro) n.612-19247C>G c.3562G>C (p.Ala1188Pro) c.3205G>C (p.Ala1069Pro) | |
2 | g.166228948C>T | CA349064703 | SCN1A-AS1,SCN9A | c.3949G>A (p.Ala1317Thr) c.3793G>A (p.Ala1265Thr) c.3916G>A (p.Ala1306Thr) n.612-19247C>T c.3562G>A (p.Ala1188Thr) c.3205G>A (p.Ala1069Thr) | |
2 | g.166228949T>A | CA429899436 | SCN1A-AS1,SCN9A | c.3948A>T (p.Gly1316=) c.3792A>T (p.Gly1264=) c.3915A>T (p.Gly1305=) n.612-19246T>A c.3561A>T (p.Gly1187=) c.3204A>T (p.Gly1068=) | |
2 | g.166228949T>C | CA429899437 | SCN1A-AS1,SCN9A | c.3948A>G (p.Gly1316=) c.3792A>G (p.Gly1264=) c.3915A>G (p.Gly1305=) n.612-19246T>C c.3561A>G (p.Gly1187=) c.3204A>G (p.Gly1068=) | gnomAD v4 |
2 | g.166228949T>G | CA429899438 | SCN1A-AS1,SCN9A | c.3948A>C (p.Gly1316=) c.3792A>C (p.Gly1264=) c.3915A>C (p.Gly1305=) n.612-19246T>G c.3561A>C (p.Gly1187=) c.3204A>C (p.Gly1068=) | |
2 | g.166228950C>A | CA349064706 | SCN1A-AS1,SCN9A | c.3947G>T (p.Gly1316Val) c.3791G>T (p.Gly1264Val) c.3914G>T (p.Gly1305Val) n.612-19245C>A c.3560G>T (p.Gly1187Val) c.3203G>T (p.Gly1068Val) | |
2 | g.166228950C>G | CA349064708 | SCN1A-AS1,SCN9A | c.3947G>C (p.Gly1316Ala) c.3791G>C (p.Gly1264Ala) c.3914G>C (p.Gly1305Ala) n.612-19245C>G c.3560G>C (p.Gly1187Ala) c.3203G>C (p.Gly1068Ala) | |
2 | g.166228950C>T | CA349064711 | SCN1A-AS1,SCN9A | c.3947G>A (p.Gly1316Glu) c.3791G>A (p.Gly1264Glu) c.3914G>A (p.Gly1305Glu) n.612-19245C>T c.3560G>A (p.Gly1187Glu) c.3203G>A (p.Gly1068Glu) | gnomAD v4 |
2 | g.166228951C>A | CA349064714 | SCN1A-AS1,SCN9A | c.3946G>T (p.Gly1316Ter) c.3790G>T (p.Gly1264Ter) c.3913G>T (p.Gly1305Ter) n.612-19244C>A c.3559G>T (p.Gly1187Ter) c.3202G>T (p.Gly1068Ter) | dbSNP |
2 | g.166228951C= | CA1304943716 | SCN1A-AS1,SCN9A | c.3946G= (p.Gly1316=) c.3790G= (p.Gly1264=) c.3913G= (p.Gly1305=) n.612-19244C= c.3559G= (p.Gly1187=) c.3202G= (p.Gly1068=) | |
2 | g.166228951C>G | CA349064715 | SCN1A-AS1,SCN9A | c.3946G>C (p.Gly1316Arg) c.3790G>C (p.Gly1264Arg) c.3913G>C (p.Gly1305Arg) n.612-19244C>G c.3559G>C (p.Gly1187Arg) c.3202G>C (p.Gly1068Arg) | |
2 | g.166228951C>T | CA349064716 | SCN1A-AS1,SCN9A | c.3946G>A (p.Gly1316Arg) c.3790G>A (p.Gly1264Arg) c.3913G>A (p.Gly1305Arg) n.612-19244C>T c.3559G>A (p.Gly1187Arg) c.3202G>A (p.Gly1068Arg) | COSMIC COSMIC |
2 | g.166228952T>A | CA429899440 | SCN1A-AS1,SCN9A | c.3945A>T (p.Ile1315=) c.3789A>T (p.Ile1263=) c.3912A>T (p.Ile1304=) n.612-19243T>A c.3558A>T (p.Ile1186=) c.3201A>T (p.Ile1067=) | |
2 | g.166228952T>C | CA349064717 | SCN1A-AS1,SCN9A | c.3945A>G (p.Ile1315Met) c.3789A>G (p.Ile1263Met) c.3912A>G (p.Ile1304Met) n.612-19243T>C c.3558A>G (p.Ile1186Met) c.3201A>G (p.Ile1067Met) | |
2 | g.166228952T>G | CA429899439 | SCN1A-AS1,SCN9A | c.3945A>C (p.Ile1315=) c.3789A>C (p.Ile1263=) c.3912A>C (p.Ile1304=) n.612-19243T>G c.3558A>C (p.Ile1186=) c.3201A>C (p.Ile1067=) | |
2 | g.166228953A= | CA1304943717 | SCN1A-AS1,SCN9A | c.3944T= (p.Ile1315=) c.3788T= (p.Ile1263=) c.3911T= (p.Ile1304=) n.612-19242A= c.3557T= (p.Ile1186=) c.3200T= (p.Ile1067=) | |
2 | g.166228953A>C | CA349064719 | SCN1A-AS1,SCN9A | c.3944T>G (p.Ile1315Arg) c.3788T>G (p.Ile1263Arg) c.3911T>G (p.Ile1304Arg) n.612-19242A>C c.3557T>G (p.Ile1186Arg) c.3200T>G (p.Ile1067Arg) | |
2 | g.166228953A>G | CA1943972 | SCN1A-AS1,SCN9A | c.3944T>C (p.Ile1315Thr) c.3788T>C (p.Ile1263Thr) c.3911T>C (p.Ile1304Thr) n.612-19242A>G c.3557T>C (p.Ile1186Thr) c.3200T>C (p.Ile1067Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166228953A>T | CA349064725 | SCN1A-AS1,SCN9A | c.3944T>A (p.Ile1315Lys) c.3788T>A (p.Ile1263Lys) c.3911T>A (p.Ile1304Lys) n.612-19242A>T c.3557T>A (p.Ile1186Lys) c.3200T>A (p.Ile1067Lys) | |
2 | g.166228954T>A | CA349064729 | SCN1A-AS1,SCN9A | c.3943A>T (p.Ile1315Leu) c.3787A>T (p.Ile1263Leu) c.3910A>T (p.Ile1304Leu) n.612-19241T>A c.3556A>T (p.Ile1186Leu) c.3199A>T (p.Ile1067Leu) | |
2 | g.166228954T>C | CA349064731 | SCN1A-AS1,SCN9A | c.3943A>G (p.Ile1315Val) c.3787A>G (p.Ile1263Val) c.3910A>G (p.Ile1304Val) n.612-19241T>C c.3556A>G (p.Ile1186Val) c.3199A>G (p.Ile1067Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166228954T>G | CA349064734 | SCN1A-AS1,SCN9A | c.3943A>C (p.Ile1315Leu) c.3787A>C (p.Ile1263Leu) c.3910A>C (p.Ile1304Leu) n.612-19241T>G c.3556A>C (p.Ile1186Leu) c.3199A>C (p.Ile1067Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166228954T= | CA1304943718 | SCN1A-AS1,SCN9A | c.3943A= (p.Ile1315=) c.3787A= (p.Ile1263=) c.3910A= (p.Ile1304=) n.612-19241T= c.3556A= (p.Ile1186=) c.3199A= (p.Ile1067=) |