| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51769188_51769208dup | CA605238528 | SCN8A | c.3225_3245dup (p.Glu1081_Asp1082insGluLysTyrIleIleAspGlu) c.1072_1092dup c.1289_1309dup c.3258_3278dup (p.Glu1092_Asp1093insGluLysTyrIleIleAspGlu) n.217_237dup | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51769203T>A | CA384893154 | SCN8A | c.3240T>A (p.Asp1080Glu) c.1087T>A c.1304T>A c.3273T>A (p.Asp1091Glu) n.232T>A | ClinVar |
| 12 | g.51769203T>C | CA480061298 | SCN8A | c.3240T>C (p.Asp1080=) c.1087T>C c.1304T>C c.3273T>C (p.Asp1091=) n.232T>C | |
| 12 | g.51769203T>G | CA384893156 | SCN8A | c.3240T>G (p.Asp1080Glu) c.1087T>G c.1304T>G c.3273T>G (p.Asp1091Glu) n.232T>G | |
| 12 | g.51769204G>A | CA384893161 | SCN8A | c.3241G>A (p.Glu1081Lys) c.1088G>A c.1305G>A c.3274G>A (p.Glu1092Lys) n.233G>A | |
| 12 | g.51769204G>C | CA384893162 | SCN8A | c.3241G>C (p.Glu1081Gln) c.1088G>C c.1305G>C c.3274G>C (p.Glu1092Gln) n.233G>C | |
| 12 | g.51769204G= | CA2036188456 | SCN8A | c.3241G= (p.Glu1081=) c.1088G= c.1305G= c.3274G= (p.Glu1092=) n.233G= | |
| 12 | g.51769204G>T | CA384893163 | SCN8A | c.3241G>T (p.Glu1081Ter) c.1088G>T c.1305G>T c.3274G>T (p.Glu1092Ter) n.233G>T | dbSNP COSMIC COSMIC |
| 12 | g.51769205A>C | CA384893172 | SCN8A | c.3242A>C (p.Glu1081Ala) c.1089A>C c.1306A>C c.3275A>C (p.Glu1092Ala) n.234A>C | |
| 12 | g.51769205A>G | CA384893166 | SCN8A | c.3242A>G (p.Glu1081Gly) c.1089A>G c.1306A>G c.3275A>G (p.Glu1092Gly) n.234A>G | |
| 12 | g.51769205A>T | CA384893164 | SCN8A | c.3242A>T (p.Glu1081Val) c.1089A>T c.1306A>T c.3275A>T (p.Glu1092Val) n.234A>T | |
| 12 | g.51769206G>A | CA480061304 | SCN8A | c.3243G>A (p.Glu1081=) c.1090G>A c.1307G>A c.3276G>A (p.Glu1092=) n.235G>A | |
| 12 | g.51769206G>C | CA384893185 | SCN8A | c.3243G>C (p.Glu1081Asp) c.1090G>C c.1307G>C c.3276G>C (p.Glu1092Asp) n.235G>C | |
| 12 | g.51769206G>T | CA384893186 | SCN8A | c.3243G>T (p.Glu1081Asp) c.1090G>T c.1307G>T c.3276G>T (p.Glu1092Asp) n.235G>T | |
| 12 | g.51769207G>A | CA384893191 | SCN8A | c.3244G>A (p.Asp1082Asn) c.1091G>A c.1308G>A c.3277G>A (p.Asp1093Asn) n.236G>A | |
| 12 | g.51769207G>C | CA384893194 | SCN8A | c.3244G>C (p.Asp1082His) c.1091G>C c.1308G>C c.3277G>C (p.Asp1093His) n.236G>C | |
| 12 | g.51769207G>T | CA384893195 | SCN8A | c.3244G>T (p.Asp1082Tyr) c.1091G>T c.1308G>T c.3277G>T (p.Asp1093Tyr) n.236G>T | ClinVar |
| 12 | g.51769208A>C | CA384893196 | SCN8A | c.3245A>C (p.Asp1082Ala) c.1092A>C c.1309A>C c.3278A>C (p.Asp1093Ala) n.237A>C | |
| 12 | g.51769208A>G | CA384893197 | SCN8A | c.3245A>G (p.Asp1082Gly) c.1092A>G c.1309A>G c.3278A>G (p.Asp1093Gly) n.237A>G | |
| 12 | g.51769208A>T | CA384893199 | SCN8A | c.3245A>T (p.Asp1082Val) c.1092A>T c.1309A>T c.3278A>T (p.Asp1093Val) n.237A>T | ClinVar dbSNP |
| 12 | g.51769209C>A | CA6571564 | SCN8A | c.3246C>A (p.Asp1082Glu) c.1093C>A c.1310C>A c.3279C>A (p.Asp1093Glu) n.238C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51769209C= | CA2036188458 | SCN8A | c.3246C= (p.Asp1082=) c.1093C= c.1310C= c.3279C= (p.Asp1093=) n.238C= | |
| 12 | g.51769209C>G | CA384893204 | SCN8A | c.3246C>G (p.Asp1082Glu) c.1093C>G c.1310C>G c.3279C>G (p.Asp1093Glu) n.238C>G | |
| 12 | g.51769209C>T | CA480061308 | SCN8A | c.3246C>T (p.Asp1082=) c.1093C>T c.1310C>T c.3279C>T (p.Asp1093=) n.238C>T | |
| 12 | g.51769210C>A | CA384893207 | SCN8A | c.3247C>A (p.His1083Asn) c.1094C>A c.1311C>A c.3280C>A (p.His1094Asn) n.239C>A | |
| 12 | g.51769210C>G | CA384893209 | SCN8A | c.3247C>G (p.His1083Asp) c.1094C>G c.1311C>G c.3280C>G (p.His1094Asp) n.239C>G | |
| 12 | g.51769210C>T | CA384893212 | SCN8A | c.3247C>T (p.His1083Tyr) c.1094C>T c.1311C>T c.3280C>T (p.His1094Tyr) n.239C>T | gnomAD v4 |
| 12 | g.51769211A>C | CA384893216 | SCN8A | c.3248A>C (p.His1083Pro) c.1095A>C c.1312A>C c.3281A>C (p.His1094Pro) n.240A>C | |
| 12 | g.51769211A>G | CA384893217 | SCN8A | c.3248A>G (p.His1083Arg) c.1095A>G c.1312A>G c.3281A>G (p.His1094Arg) n.240A>G | |
| 12 | g.51769211A>T | CA384893215 | SCN8A | c.3248A>T (p.His1083Leu) c.1095A>T c.1312A>T c.3281A>T (p.His1094Leu) n.240A>T | |
| 12 | g.51769212C>A | CA384893218 | SCN8A | c.3249C>A (p.His1083Gln) c.1096C>A c.1313C>A c.3282C>A (p.His1094Gln) n.241C>A | |
| 12 | g.51769212C>G | CA384893219 | SCN8A | c.3249C>G (p.His1083Gln) c.1096C>G c.1313C>G c.3282C>G (p.His1094Gln) n.241C>G | |
| 12 | g.51769212C>T | CA480061313 | SCN8A | c.3249C>T (p.His1083=) c.1096C>T c.1313C>T c.3282C>T (p.His1094=) n.241C>T | |
| 12 | g.51769213A>C | CA384893220 | SCN8A | c.3250A>C (p.Met1084Leu) c.1097A>C c.1314A>C c.3283A>C (p.Met1095Leu) n.242A>C | |
| 12 | g.51769213A>G | CA384893222 | SCN8A | c.3250A>G (p.Met1084Val) c.1097A>G c.1314A>G c.3283A>G (p.Met1095Val) n.242A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.51769213A>T | CA384893225 | SCN8A | c.3250A>T (p.Met1084Leu) c.1097A>T c.1314A>T c.3283A>T (p.Met1095Leu) n.242A>T | gnomAD v4 |
| 12 | g.51769214T>A | CA384893226 | SCN8A | c.3251T>A (p.Met1084Lys) c.1098T>A c.1315T>A c.3284T>A (p.Met1095Lys) n.243T>A | |
| 12 | g.51769214T>C | CA384893227 | SCN8A | c.3251T>C (p.Met1084Thr) c.1098T>C c.1315T>C c.3284T>C (p.Met1095Thr) n.243T>C | |
| 12 | g.51769214T>G | CA384893228 | SCN8A | c.3251T>G (p.Met1084Arg) c.1098T>G c.1315T>G c.3284T>G (p.Met1095Arg) n.243T>G | |
| 12 | g.51769215_51769220del | CA2618840719 | SCN8A | c.3252_3257del (p.Met1084_Phe1086delinsIle) c.1099_1104del c.1316_1321del c.3285_3290del (p.Met1095_Phe1097delinsIle) n.244_249del | gnomAD v4 |
| 12 | g.51769215G>A | CA384893234 | SCN8A | c.3252G>A (p.Met1084Ile) c.1099G>A c.1316G>A c.3285G>A (p.Met1095Ile) n.244G>A | |
| 12 | g.51769215G>C | CA384893235 | SCN8A | c.3252G>C (p.Met1084Ile) c.1099G>C c.1316G>C c.3285G>C (p.Met1095Ile) n.244G>C | |
| 12 | g.51769215G>T | CA384893237 | SCN8A | c.3252G>T (p.Met1084Ile) c.1099G>T c.1316G>T c.3285G>T (p.Met1095Ile) n.244G>T | |
| 12 | g.51769216T>A | CA384893242 | SCN8A | c.3253T>A (p.Ser1085Thr) c.1100T>A c.1317T>A c.3286T>A (p.Ser1096Thr) n.245T>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51769216T>C | CA384893239 | SCN8A | c.3253T>C (p.Ser1085Pro) c.1100T>C c.1317T>C c.3286T>C (p.Ser1096Pro) n.245T>C | |
| 12 | g.51769216T>G | CA384893241 | SCN8A | c.3253T>G (p.Ser1085Ala) c.1100T>G c.1317T>G c.3286T>G (p.Ser1096Ala) n.245T>G | |
| 12 | g.51769216T= | CA2036188461 | SCN8A | c.3253T= (p.Ser1085=) c.1100T= c.1317T= c.3286T= (p.Ser1096=) n.245T= | |
| 12 | g.51769217C>A | CA384893243 | SCN8A | c.3254C>A (p.Ser1085Tyr) c.1101C>A c.1318C>A c.3287C>A (p.Ser1096Tyr) n.246C>A | |
| 12 | g.51769217C= | CA2036188466 | SCN8A | c.3254C= (p.Ser1085=) c.1101C= c.1318C= c.3287C= (p.Ser1096=) n.246C= | |
| 12 | g.51769217C>G | CA384893245 | SCN8A | c.3254C>G (p.Ser1085Cys) c.1101C>G c.1318C>G c.3287C>G (p.Ser1096Cys) n.246C>G | |
| 12 | g.51769217C>T | CA384893246 | SCN8A | c.3254C>T (p.Ser1085Phe) c.1101C>T c.1318C>T c.3287C>T (p.Ser1096Phe) n.246C>T | dbSNP gnomAD v4 |
| 12 | g.51769218C>A | CA480061324 | SCN8A | c.3255C>A (p.Ser1085=) c.1102C>A c.1319C>A c.3288C>A (p.Ser1096=) n.247C>A | gnomAD v4 |
| 12 | g.51769218C>G | CA480061325 | SCN8A | c.3255C>G (p.Ser1085=) c.1102C>G c.1319C>G c.3288C>G (p.Ser1096=) n.247C>G | |
| 12 | g.51769218C>T | CA480061326 | SCN8A | c.3255C>T (p.Ser1085=) c.1102C>T c.1319C>T c.3288C>T (p.Ser1096=) n.247C>T | |
| 12 | g.51769219T>A | CA384893247 | SCN8A | c.3256T>A (p.Phe1086Ile) c.1103T>A c.1320T>A c.3289T>A (p.Phe1097Ile) n.248T>A | |
| 12 | g.51769219T>C | CA384893248 | SCN8A | c.3256T>C (p.Phe1086Leu) c.1103T>C c.1320T>C c.3289T>C (p.Phe1097Leu) n.248T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51769219T>G | CA384893249 | SCN8A | c.3256T>G (p.Phe1086Val) c.1103T>G c.1320T>G c.3289T>G (p.Phe1097Val) n.248T>G | |
| 12 | g.51769219T= | CA2036188472 | SCN8A | c.3256T= (p.Phe1086=) c.1103T= c.1320T= c.3289T= (p.Phe1097=) n.248T= | |
| 12 | g.51769220T>A | CA384893250 | SCN8A | c.3257T>A (p.Phe1086Tyr) c.1104T>A c.1321T>A c.3290T>A (p.Phe1097Tyr) n.249T>A | |
| 12 | g.51769220T>C | CA384893251 | SCN8A | c.3257T>C (p.Phe1086Ser) c.1104T>C c.1321T>C c.3290T>C (p.Phe1097Ser) n.249T>C | |
| 12 | g.51769220T>G | CA384893252 | SCN8A | c.3257T>G (p.Phe1086Cys) c.1104T>G c.1321T>G c.3290T>G (p.Phe1097Cys) n.249T>G | |
| 12 | g.51769221C>A | CA384893253 | SCN8A | c.3258C>A (p.Phe1086Leu) c.1105C>A c.1322C>A c.3291C>A (p.Phe1097Leu) n.250C>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51769221C= | CA2036188478 | SCN8A | c.3258C= (p.Phe1086=) c.1105C= c.1322C= c.3291C= (p.Phe1097=) n.250C= | |
| 12 | g.51769221C>G | CA384893254 | SCN8A | c.3258C>G (p.Phe1086Leu) c.1105C>G c.1322C>G c.3291C>G (p.Phe1097Leu) n.250C>G | |
| 12 | g.51769221C>T | CA480061330 | SCN8A | c.3258C>T (p.Phe1086=) c.1105C>T c.1322C>T c.3291C>T (p.Phe1097=) n.250C>T | gnomAD v4 |
| 12 | g.51769222A= | CA2036188483 | SCN8A | c.3259A= (p.Ile1087=) c.1106A= c.1323A= c.3292A= (p.Ile1098=) n.251A= | |
| 12 | g.51769222A>C | CA384893260 | SCN8A | c.3259A>C (p.Ile1087Leu) c.1106A>C c.1323A>C c.3292A>C (p.Ile1098Leu) n.251A>C | |
| 12 | g.51769222A>G | CA6571565 | SCN8A | c.3259A>G (p.Ile1087Val) c.1106A>G c.1323A>G c.3292A>G (p.Ile1098Val) n.251A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769222A>T | CA384893258 | SCN8A | c.3259A>T (p.Ile1087Phe) c.1106A>T c.1323A>T c.3292A>T (p.Ile1098Phe) n.251A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769223T>A | CA384893264 | SCN8A | c.3260T>A (p.Ile1087Asn) c.1107T>A c.1324T>A c.3293T>A (p.Ile1098Asn) n.252T>A | |
| 12 | g.51769223T>C | CA384893261 | SCN8A | c.3260T>C (p.Ile1087Thr) c.1107T>C c.1324T>C c.3293T>C (p.Ile1098Thr) n.252T>C | |
| 12 | g.51769223T>G | CA384893263 | SCN8A | c.3260T>G (p.Ile1087Ser) c.1107T>G c.1324T>G c.3293T>G (p.Ile1098Ser) n.252T>G | |
| 12 | g.51769224C>A | CA480061333 | SCN8A | c.3261C>A (p.Ile1087=) c.1108C>A c.1325C>A c.3294C>A (p.Ile1098=) n.253C>A | |
| 12 | g.51769224C>G | CA384893265 | SCN8A | c.3261C>G (p.Ile1087Met) c.1108C>G c.1325C>G c.3294C>G (p.Ile1098Met) n.253C>G | ClinVar dbSNP |
| 12 | g.51769224C>T | CA480061334 | SCN8A | c.3261C>T (p.Ile1087=) c.1108C>T c.1325C>T c.3294C>T (p.Ile1098=) n.253C>T | COSMIC COSMIC |
| 12 | g.51769225A= | CA2036188488 | SCN8A | c.3262A= (p.Asn1088=) c.1109A= c.1326A= c.3295A= (p.Asn1099=) n.254A= | |
| 12 | g.51769225A>C | CA384893267 | SCN8A | c.3262A>C (p.Asn1088His) c.1109A>C c.1326A>C c.3295A>C (p.Asn1099His) n.254A>C | |
| 12 | g.51769225A>G | CA384893271 | SCN8A | c.3262A>G (p.Asn1088Asp) c.1109A>G c.1326A>G c.3295A>G (p.Asn1099Asp) n.254A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51769225A>T | CA384893273 | SCN8A | c.3262A>T (p.Asn1088Tyr) c.1109A>T c.1326A>T c.3295A>T (p.Asn1099Tyr) n.254A>T | |
| 12 | g.51769226A= | CA2036188493 | SCN8A | c.3263A= (p.Asn1088=) c.1110A= c.1327A= c.3296A= (p.Asn1099=) n.255A= | |
| 12 | g.51769226A>C | CA384893277 | SCN8A | c.3263A>C (p.Asn1088Thr) c.1110A>C c.1327A>C c.3296A>C (p.Asn1099Thr) n.255A>C | |
| 12 | g.51769226A>G | CA384893280 | SCN8A | c.3263A>G (p.Asn1088Ser) c.1110A>G c.1327A>G c.3296A>G (p.Asn1099Ser) n.255A>G | dbSNP |
| 12 | g.51769226A>T | CA384893281 | SCN8A | c.3263A>T (p.Asn1088Ile) c.1110A>T c.1327A>T c.3296A>T (p.Asn1099Ile) n.255A>T | |
| 12 | g.51769227C>A | CA384893286 | SCN8A | c.3264C>A (p.Asn1088Lys) c.1111C>A c.1328C>A c.3297C>A (p.Asn1099Lys) n.256C>A | |
| 12 | g.51769227C= | CA2036188496 | SCN8A | c.3264C= (p.Asn1088=) c.1111C= c.1328C= c.3297C= (p.Asn1099=) n.256C= | |
| 12 | g.51769227C>G | CA384893288 | SCN8A | c.3264C>G (p.Asn1088Lys) c.1111C>G c.1328C>G c.3297C>G (p.Asn1099Lys) n.256C>G | |
| 12 | g.51769227C>T | CA6571566 | SCN8A | c.3264C>T (p.Asn1088=) c.1111C>T c.1328C>T c.3297C>T (p.Asn1099=) n.256C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51769228A>C | CA384893291 | SCN8A | c.3265A>C (p.Asn1089His) c.1112A>C c.1329A>C c.3298A>C (p.Asn1100His) n.257A>C | |
| 12 | g.51769228A>G | CA384893289 | SCN8A | c.3265A>G (p.Asn1089Asp) c.1112A>G c.1329A>G c.3298A>G (p.Asn1100Asp) n.257A>G | |
| 12 | g.51769228A>T | CA384893290 | SCN8A | c.3265A>T (p.Asn1089Tyr) c.1112A>T c.1329A>T c.3298A>T (p.Asn1100Tyr) n.257A>T | |
| 12 | g.51769229A= | CA2036188499 | SCN8A | c.3266A= (p.Asn1089=) c.1113A= c.1330A= c.3299A= (p.Asn1100=) n.258A= | |
| 12 | g.51769229A>C | CA384893292 | SCN8A | c.3266A>C (p.Asn1089Thr) c.1113A>C c.1330A>C c.3299A>C (p.Asn1100Thr) n.258A>C | |
| 12 | g.51769229A>G | CA6571567 | SCN8A | c.3266A>G (p.Asn1089Ser) c.1113A>G c.1330A>G c.3299A>G (p.Asn1100Ser) n.258A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51769229A>T | CA384893293 | SCN8A | c.3266A>T (p.Asn1089Ile) c.1113A>T c.1330A>T c.3299A>T (p.Asn1100Ile) n.258A>T | |
| 12 | g.51769230C>A | CA6571568 | SCN8A | c.3267C>A (p.Asn1089Lys) c.1114C>A c.1331C>A c.3300C>A (p.Asn1100Lys) n.259C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51769230C= | CA2036188502 | SCN8A | c.3267C= (p.Asn1089=) c.1114C= c.1331C= c.3300C= (p.Asn1100=) n.259C= | |
| 12 | g.51769230C>G | CA384893294 | SCN8A | c.3267C>G (p.Asn1089Lys) c.1114C>G c.1331C>G c.3300C>G (p.Asn1100Lys) n.259C>G | |
| 12 | g.51769230C>T | CA480061339 | SCN8A | c.3267C>T (p.Asn1089=) c.1114C>T c.1331C>T c.3300C>T (p.Asn1100=) n.259C>T | ClinVar dbSNP |
| 12 | g.51769231C>A | CA384893295 | SCN8A | c.3268C>A (p.Pro1090Thr) c.1115C>A c.1332C>A c.3301C>A (p.Pro1101Thr) n.260C>A | gnomAD v4 |
| 12 | g.51769231C= | CA2036188508 | SCN8A | c.3268C= (p.Pro1090=) c.1115C= c.1332C= c.3301C= (p.Pro1101=) n.260C= | |
| 12 | g.51769231C>G | CA384893296 | SCN8A | c.3268C>G (p.Pro1090Ala) c.1115C>G c.1332C>G c.3301C>G (p.Pro1101Ala) n.260C>G | |
| 12 | g.51769231C>T | CA384893308 | SCN8A | c.3268C>T (p.Pro1090Ser) c.1115C>T c.1332C>T c.3301C>T (p.Pro1101Ser) n.260C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.51769232C>A | CA384893312 | SCN8A | c.3269C>A (p.Pro1090His) c.1116C>A c.1333C>A c.3302C>A (p.Pro1101His) n.261C>A | |
| 12 | g.51769232C= | CA2036188514 | SCN8A | c.3269C= (p.Pro1090=) c.1116C= c.1333C= c.3302C= (p.Pro1101=) n.261C= | |
| 12 | g.51769232C>G | CA384893314 | SCN8A | c.3269C>G (p.Pro1090Arg) c.1116C>G c.1333C>G c.3302C>G (p.Pro1101Arg) n.261C>G | |
| 12 | g.51769232C>T | CA6571569 | SCN8A | c.3269C>T (p.Pro1090Leu) c.1116C>T c.1333C>T c.3302C>T (p.Pro1101Leu) n.261C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51769233C>A | CA480061345 | SCN8A | c.3270C>A (p.Pro1090=) c.1117C>A c.1334C>A c.3303C>A (p.Pro1101=) n.262C>A | dbSNP |
| 12 | g.51769233C= | CA2036188518 | SCN8A | c.3270C= (p.Pro1090=) c.1117C= c.1334C= c.3303C= (p.Pro1101=) n.262C= | |
| 12 | g.51769233C>G | CA480061346 | SCN8A | c.3270C>G (p.Pro1090=) c.1117C>G c.1334C>G c.3303C>G (p.Pro1101=) n.262C>G | |
| 12 | g.51769233C>T | CA480061348 | SCN8A | c.3270C>T (p.Pro1090=) c.1117C>T c.1334C>T c.3303C>T (p.Pro1101=) n.262C>T | |
| 12 | g.51769234A= | CA2036188525 | SCN8A | c.3271A= (p.Asn1091=) c.1118A= c.1335A= c.3304A= (p.Asn1102=) n.263A= | |
| 12 | g.51769234A>C | CA384893320 | SCN8A | c.3271A>C (p.Asn1091His) c.1118A>C c.1335A>C c.3304A>C (p.Asn1102His) n.263A>C | |
| 12 | g.51769234A>G | CA384893322 | SCN8A | c.3271A>G (p.Asn1091Asp) c.1118A>G c.1335A>G c.3304A>G (p.Asn1102Asp) n.263A>G | |
| 12 | g.51769234A>T | CA384893318 | SCN8A | c.3271A>T (p.Asn1091Tyr) c.1118A>T c.1335A>T c.3304A>T (p.Asn1102Tyr) n.263A>T | dbSNP gnomAD v2 |
| 12 | g.51769235A= | CA2036188534 | SCN8A | c.3272A= (p.Asn1091=) c.1119A= c.1336A= c.3305A= (p.Asn1102=) n.264A= | |
| 12 | g.51769235A>C | CA6571571 | SCN8A | c.3272A>C (p.Asn1091Thr) c.1119A>C c.1336A>C c.3305A>C (p.Asn1102Thr) n.264A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769235A>G | CA6571570 | SCN8A | c.3272A>G (p.Asn1091Ser) c.1119A>G c.1336A>G c.3305A>G (p.Asn1102Ser) n.264A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769235A>T | CA384893329 | SCN8A | c.3272A>T (p.Asn1091Ile) c.1119A>T c.1336A>T c.3305A>T (p.Asn1102Ile) n.264A>T | |
| 12 | g.51769236C>A | CA384893333 | SCN8A | c.3273C>A (p.Asn1091Lys) c.1120C>A c.1337C>A c.3306C>A (p.Asn1102Lys) n.265C>A | |
| 12 | g.51769236C>G | CA384893336 | SCN8A | c.3273C>G (p.Asn1091Lys) c.1120C>G c.1337C>G c.3306C>G (p.Asn1102Lys) n.265C>G | |
| 12 | g.51769236C>T | CA480061350 | SCN8A | c.3273C>T (p.Asn1091=) c.1120C>T c.1337C>T c.3306C>T (p.Asn1102=) n.265C>T | |
| 12 | g.51769237T>A | CA384893337 | SCN8A | c.3274T>A (p.Leu1092Met) c.1121T>A c.1338T>A c.3307T>A (p.Leu1103Met) n.266T>A | ClinVar dbSNP |
| 12 | g.51769237T>C | CA480061353 | SCN8A | c.3274T>C (p.Leu1092=) c.1121T>C c.1338T>C c.3307T>C (p.Leu1103=) n.266T>C | |
| 12 | g.51769237T>G | CA384893338 | SCN8A | c.3274T>G (p.Leu1092Val) c.1121T>G c.1338T>G c.3307T>G (p.Leu1103Val) n.266T>G | |
| 12 | g.51769237T= | CA2036188540 | SCN8A | c.3274T= (p.Leu1092=) c.1121T= c.1338T= c.3307T= (p.Leu1103=) n.266T= | |
| 12 | g.51769238T>A | CA384893341 | SCN8A | c.3275T>A (p.Leu1092Ter) c.1122T>A c.1339T>A c.3308T>A (p.Leu1103Ter) n.267T>A | dbSNP |
| 12 | g.51769238T>C | CA384893344 | SCN8A | c.3275T>C (p.Leu1092Ser) c.1122T>C c.1339T>C c.3308T>C (p.Leu1103Ser) n.267T>C | |
| 12 | g.51769238T>G | CA384893346 | SCN8A | c.3275T>G (p.Leu1092Trp) c.1122T>G c.1339T>G c.3308T>G (p.Leu1103Trp) n.267T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51769238T= | CA2036188545 | SCN8A | c.3275T= (p.Leu1092=) c.1122T= c.1339T= c.3308T= (p.Leu1103=) n.267T= | |
| 12 | g.51769239G>A | CA480061356 | SCN8A | c.3276G>A (p.Leu1092=) c.1123G>A c.1340G>A c.3309G>A (p.Leu1103=) n.268G>A | |
| 12 | g.51769239G>C | CA384893349 | SCN8A | c.3276G>C (p.Leu1092Phe) c.1123G>C c.1340G>C c.3309G>C (p.Leu1103Phe) n.268G>C | |
| 12 | g.51769239G>T | CA384893355 | SCN8A | c.3276G>T (p.Leu1092Phe) c.1123G>T c.1340G>T c.3309G>T (p.Leu1103Phe) n.268G>T | |
| 12 | g.51769240A>C | CA384893360 | SCN8A | c.3277A>C (p.Thr1093Pro) c.1124A>C c.1341A>C c.3310A>C (p.Thr1104Pro) n.269A>C | |
| 12 | g.51769240A>G | CA384893361 | SCN8A | c.3277A>G (p.Thr1093Ala) c.1124A>G c.1341A>G c.3310A>G (p.Thr1104Ala) n.269A>G | |
| 12 | g.51769240A>T | CA384893359 | SCN8A | c.3277A>T (p.Thr1093Ser) c.1124A>T c.1341A>T c.3310A>T (p.Thr1104Ser) n.269A>T | |
| 12 | g.51769241C>A | CA384893364 | SCN8A | c.3278C>A (p.Thr1093Asn) c.1125C>A c.1342C>A c.3311C>A (p.Thr1104Asn) n.270C>A | |
| 12 | g.51769241C>G | CA384893368 | SCN8A | c.3278C>G (p.Thr1093Ser) c.1125C>G c.1342C>G c.3311C>G (p.Thr1104Ser) n.270C>G | |
| 12 | g.51769241C>T | CA384893370 | SCN8A | c.3278C>T (p.Thr1093Ile) c.1125C>T c.1342C>T c.3311C>T (p.Thr1104Ile) n.270C>T | |
| 12 | g.51769242T>A | CA480061361 | SCN8A | c.3279T>A (p.Thr1093=) c.1126T>A c.1343T>A c.3312T>A (p.Thr1104=) n.271T>A | |
| 12 | g.51769242T>C | CA480061362 | SCN8A | c.3279T>C (p.Thr1093=) c.1126T>C c.1343T>C c.3312T>C (p.Thr1104=) n.271T>C | |
| 12 | g.51769242T>G | CA480061363 | SCN8A | c.3279T>G (p.Thr1093=) c.1126T>G c.1343T>G c.3312T>G (p.Thr1104=) n.271T>G | |
| 12 | g.51769243G>A | CA6571572 | SCN8A | c.3280G>A (p.Val1094Ile) c.1127G>A c.1344G>A c.3313G>A (p.Val1105Ile) n.272G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769243G>C | CA384893386 | SCN8A | c.3280G>C (p.Val1094Leu) c.1127G>C c.1344G>C c.3313G>C (p.Val1105Leu) n.272G>C | |
| 12 | g.51769243G= | CA2036188551 | SCN8A | c.3280G= (p.Val1094=) c.1127G= c.1344G= c.3313G= (p.Val1105=) n.272G= | |
| 12 | g.51769243G>T | CA384893388 | SCN8A | c.3280G>T (p.Val1094Leu) c.1127G>T c.1344G>T c.3313G>T (p.Val1105Leu) n.272G>T | |
| 12 | g.51769244T>A | CA384893400 | SCN8A | c.3281T>A (p.Val1094Glu) c.1128T>A c.1345T>A c.3314T>A (p.Val1105Glu) n.273T>A | |
| 12 | g.51769244T>C | CA384893392 | SCN8A | c.3281T>C (p.Val1094Ala) c.1128T>C c.1345T>C c.3314T>C (p.Val1105Ala) n.273T>C | |
| 12 | g.51769244T>G | CA384893395 | SCN8A | c.3281T>G (p.Val1094Gly) c.1128T>G c.1345T>G c.3314T>G (p.Val1105Gly) n.273T>G | |
| 12 | g.51769245A>C | CA480061366 | SCN8A | c.3282A>C (p.Val1094=) c.1129A>C c.1346A>C c.3315A>C (p.Val1105=) n.274A>C | |
| 12 | g.51769245A>G | CA480061368 | SCN8A | c.3282A>G (p.Val1094=) c.1129A>G c.1346A>G c.3315A>G (p.Val1105=) n.274A>G | dbSNP |
| 12 | g.51769245A>T | CA480061370 | SCN8A | c.3282A>T (p.Val1094=) c.1129A>T c.1346A>T c.3315A>T (p.Val1105=) n.274A>T | |
| 12 | g.51769246C>A | CA480061371 | SCN8A | c.3283C>A (p.Arg1095=) c.1130C>A c.1347C>A c.3316C>A (p.Arg1106=) n.275C>A | gnomAD v3 gnomAD v4 |
| 12 | g.51769246C= | CA2036188557 | SCN8A | c.3283C= (p.Arg1095=) c.1130C= c.1347C= c.3316C= (p.Arg1106=) n.275C= | |
| 12 | g.51769246C>G | CA384893402 | SCN8A | c.3283C>G (p.Arg1095Gly) c.1130C>G c.1347C>G c.3316C>G (p.Arg1106Gly) n.275C>G | |
| 12 | g.51769246C>T | CA236318634 | SCN8A | c.3283C>T (p.Arg1095Trp) c.1130C>T c.1347C>T c.3316C>T (p.Arg1106Trp) n.275C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51769247G>A | CA384893406 | SCN8A | c.3284G>A (p.Arg1095Gln) c.1131G>A c.1348G>A c.3317G>A (p.Arg1106Gln) n.276G>A | ClinVar dbSNP |
| 12 | g.51769247G>C | CA384893407 | SCN8A | c.3284G>C (p.Arg1095Pro) c.1131G>C c.1348G>C c.3317G>C (p.Arg1106Pro) n.276G>C | |
| 12 | g.51769247G>T | CA384893411 | SCN8A | c.3284G>T (p.Arg1095Leu) c.1131G>T c.1348G>T c.3317G>T (p.Arg1106Leu) n.276G>T | |
| 12 | g.51769248G>A | CA6571573 | SCN8A | c.3285G>A (p.Arg1095=) c.1132G>A c.1349G>A c.3318G>A (p.Arg1106=) n.277G>A | dbSNP ExAC gnomAD v2 |
| 12 | g.51769248G>C | CA480061376 | SCN8A | c.3285G>C (p.Arg1095=) c.1132G>C c.1349G>C c.3318G>C (p.Arg1106=) n.277G>C | |
| 12 | g.51769248G= | CA2036188561 | SCN8A | c.3285G= (p.Arg1095=) c.1132G= c.1349G= c.3318G= (p.Arg1106=) n.277G= | |
| 12 | g.51769248G>T | CA480061377 | SCN8A | c.3285G>T (p.Arg1095=) c.1132G>T c.1349G>T c.3318G>T (p.Arg1106=) n.277G>T | |
| 12 | g.51769249G>A | CA384893419 | SCN8A | c.3286G>A (p.Val1096Ile) c.1133G>A c.1350G>A c.3319G>A (p.Val1107Ile) n.278G>A | |
| 12 | g.51769249G>C | CA384893423 | SCN8A | c.3286G>C (p.Val1096Leu) c.1133G>C c.1350G>C c.3319G>C (p.Val1107Leu) n.278G>C | |
| 12 | g.51769249G>T | CA384893416 | SCN8A | c.3286G>T (p.Val1096Leu) c.1133G>T c.1350G>T c.3319G>T (p.Val1107Leu) n.278G>T | |
| 12 | g.51769250T>A | CA384893430 | SCN8A | c.3287T>A (p.Val1096Glu) c.1134T>A c.1351T>A c.3320T>A (p.Val1107Glu) n.279T>A | |
| 12 | g.51769250T>C | CA384893429 | SCN8A | c.3287T>C (p.Val1096Ala) c.1134T>C c.1351T>C c.3320T>C (p.Val1107Ala) n.279T>C | |
| 12 | g.51769250T>G | CA384893434 | SCN8A | c.3287T>G (p.Val1096Gly) c.1134T>G c.1351T>G c.3320T>G (p.Val1107Gly) n.279T>G | |
| 12 | g.51769251A>C | CA480061379 | SCN8A | c.3288A>C (p.Val1096=) c.1135A>C c.1352A>C c.3321A>C (p.Val1107=) n.280A>C | |
| 12 | g.51769251A>G | CA480061380 | SCN8A | c.3288A>G (p.Val1096=) c.1135A>G c.1352A>G c.3321A>G (p.Val1107=) n.280A>G | ClinVar gnomAD v4 |
| 12 | g.51769251A>T | CA480061381 | SCN8A | c.3288A>T (p.Val1096=) c.1135A>T c.1352A>T c.3321A>T (p.Val1107=) n.280A>T | |
| 12 | g.51769252C>A | CA384893436 | SCN8A | c.3289C>A (p.Pro1097Thr) c.1136C>A c.1353C>A c.3322C>A (p.Pro1108Thr) n.281C>A | |
| 12 | g.51769252C>G | CA384893437 | SCN8A | c.3289C>G (p.Pro1097Ala) c.1136C>G c.1353C>G c.3322C>G (p.Pro1108Ala) n.281C>G | |
| 12 | g.51769252C>T | CA384893439 | SCN8A | c.3289C>T (p.Pro1097Ser) c.1136C>T c.1353C>T c.3322C>T (p.Pro1108Ser) n.281C>T | |
| 12 | g.51769253C>A | CA384893443 | SCN8A | c.3290C>A (p.Pro1097His) c.1137C>A c.1354C>A c.3323C>A (p.Pro1108His) n.282C>A | |
| 12 | g.51769253C>G | CA384893448 | SCN8A | c.3290C>G (p.Pro1097Arg) c.1137C>G c.1354C>G c.3323C>G (p.Pro1108Arg) n.282C>G | |
| 12 | g.51769253C>T | CA384893452 | SCN8A | c.3290C>T (p.Pro1097Leu) c.1137C>T c.1354C>T c.3323C>T (p.Pro1108Leu) n.282C>T | gnomAD v4 |
| 12 | g.51769254C>A | CA480061382 | SCN8A | c.3291C>A (p.Pro1097=) c.1138C>A c.1355C>A c.3324C>A (p.Pro1108=) n.283C>A | |
| 12 | g.51769254C>G | CA480061385 | SCN8A | c.3291C>G (p.Pro1097=) c.1138C>G c.1355C>G c.3324C>G (p.Pro1108=) n.283C>G | |
| 12 | g.51769254C>T | CA480061387 | SCN8A | c.3291C>T (p.Pro1097=) c.1138C>T c.1355C>T c.3324C>T (p.Pro1108=) n.283C>T | |
| 12 | g.51769255A= | CA2036188564 | SCN8A | c.3292A= (p.Ile1098=) c.1139A= c.1356A= c.3325A= (p.Ile1109=) n.284A= | |
| 12 | g.51769255A>C | CA384893458 | SCN8A | c.3292A>C (p.Ile1098Leu) c.1139A>C c.1356A>C c.3325A>C (p.Ile1109Leu) n.284A>C | |
| 12 | g.51769255A>G | CA318260 | SCN8A | c.3292A>G (p.Ile1098Val) c.1139A>G c.1356A>G c.3325A>G (p.Ile1109Val) n.284A>G | dbSNP gnomAD v4 |
| 12 | g.51769255A>T | CA384893464 | SCN8A | c.3292A>T (p.Ile1098Phe) c.1139A>T c.1356A>T c.3325A>T (p.Ile1109Phe) n.284A>T | |
| 12 | g.51769256T>A | CA384893466 | SCN8A | c.3293T>A (p.Ile1098Asn) c.1140T>A c.1357T>A c.3326T>A (p.Ile1109Asn) n.285T>A | ClinVar dbSNP |
| 12 | g.51769256T>C | CA384893469 | SCN8A | c.3293T>C (p.Ile1098Thr) c.1140T>C c.1357T>C c.3326T>C (p.Ile1109Thr) n.285T>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51769256T>G | CA384893472 | SCN8A | c.3293T>G (p.Ile1098Ser) c.1140T>G c.1357T>G c.3326T>G (p.Ile1109Ser) n.285T>G | |
| 12 | g.51769256T= | CA2036188568 | SCN8A | c.3293T= (p.Ile1098=) c.1140T= c.1357T= c.3326T= (p.Ile1109=) n.285T= | |
| 12 | g.51769257T>A | CA480061395 | SCN8A | c.3294T>A (p.Ile1098=) c.1141T>A c.1358T>A c.3327T>A (p.Ile1109=) n.286T>A | |
| 12 | g.51769257T>C | CA480061393 | SCN8A | c.3294T>C (p.Ile1098=) c.1141T>C c.1358T>C c.3327T>C (p.Ile1109=) n.286T>C | |
| 12 | g.51769257T>G | CA384893476 | SCN8A | c.3294T>G (p.Ile1098Met) c.1141T>G c.1358T>G c.3327T>G (p.Ile1109Met) n.286T>G | |
| 12 | g.51769258G>A | CA384893484 | SCN8A | c.3295G>A (p.Ala1099Thr) c.1142G>A c.1359G>A c.3328G>A (p.Ala1110Thr) n.287G>A | ClinVar dbSNP |
| 12 | g.51769258G>C | CA384893479 | SCN8A | c.3295G>C (p.Ala1099Pro) c.1142G>C c.1359G>C c.3328G>C (p.Ala1110Pro) n.287G>C | |
| 12 | g.51769258G= | CA2036188571 | SCN8A | c.3295G= (p.Ala1099=) c.1142G= c.1359G= c.3328G= (p.Ala1110=) n.287G= | |
| 12 | g.51769258G>T | CA384893483 | SCN8A | c.3295G>T (p.Ala1099Ser) c.1142G>T c.1359G>T c.3328G>T (p.Ala1110Ser) n.287G>T | |
| 12 | g.51769259C>A | CA384893488 | SCN8A | c.3296C>A (p.Ala1099Asp) c.1143C>A c.1360C>A c.3329C>A (p.Ala1110Asp) n.288C>A | |
| 12 | g.51769259C>G | CA384893495 | SCN8A | c.3296C>G (p.Ala1099Gly) c.1143C>G c.1360C>G c.3329C>G (p.Ala1110Gly) n.288C>G | |
| 12 | g.51769259C>T | CA384893500 | SCN8A | c.3296C>T (p.Ala1099Val) c.1143C>T c.1360C>T c.3329C>T (p.Ala1110Val) n.288C>T | |
| 12 | g.51769260T>A | CA480061401 | SCN8A | c.3297T>A (p.Ala1099=) c.1144T>A c.1361T>A c.3330T>A (p.Ala1110=) n.289T>A | |
| 12 | g.51769260T>C | CA480061400 | SCN8A | c.3297T>C (p.Ala1099=) c.1144T>C c.1361T>C c.3330T>C (p.Ala1110=) n.289T>C | |
| 12 | g.51769260T>G | CA480061398 | SCN8A | c.3297T>G (p.Ala1099=) c.1144T>G c.1361T>G c.3330T>G (p.Ala1110=) n.289T>G | |
| 12 | g.51769261G>A | CA6571574 | SCN8A | c.3298G>A (p.Val1100Met) c.1145G>A c.1362G>A c.3331G>A (p.Val1111Met) n.290G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51769261G>C | CA384893505 | SCN8A | c.3298G>C (p.Val1100Leu) c.1145G>C c.1362G>C c.3331G>C (p.Val1111Leu) n.290G>C | |
| 12 | g.51769261G= | CA2036188574 | SCN8A | c.3298G= (p.Val1100=) c.1145G= c.1362G= c.3331G= (p.Val1111=) n.290G= | |
| 12 | g.51769261G>T | CA384893508 | SCN8A | c.3298G>T (p.Val1100Leu) c.1145G>T c.1362G>T c.3331G>T (p.Val1111Leu) n.290G>T | |
| 12 | g.51769262T>A | CA384893509 | SCN8A | c.3299T>A (p.Val1100Glu) c.1146T>A c.1363T>A c.3332T>A (p.Val1111Glu) n.291T>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51769262T>C | CA384893510 | SCN8A | c.3299T>C (p.Val1100Ala) c.1146T>C c.1363T>C c.3332T>C (p.Val1111Ala) n.291T>C | |
| 12 | g.51769262T>G | CA384893513 | SCN8A | c.3299T>G (p.Val1100Gly) c.1146T>G c.1363T>G c.3332T>G (p.Val1111Gly) n.291T>G | |
| 12 | g.51769262T= | CA2036188579 | SCN8A | c.3299T= (p.Val1100=) c.1146T= c.1363T= c.3332T= (p.Val1111=) n.291T= | |
| 12 | g.51769263G>A | CA480061406 | SCN8A | c.3300G>A (p.Val1100=) c.1147G>A c.1364G>A c.3333G>A (p.Val1111=) n.292G>A | ClinVar |
| 12 | g.51769263G>C | CA480061409 | SCN8A | c.3300G>C (p.Val1100=) c.1147G>C c.1364G>C c.3333G>C (p.Val1111=) n.292G>C | |
| 12 | g.51769263G>T | CA480061408 | SCN8A | c.3300G>T (p.Val1100=) c.1147G>T c.1364G>T c.3333G>T (p.Val1111=) n.292G>T | |
| 12 | g.51769264G>A | CA236318645 | SCN8A | c.3301G>A (p.Gly1101Ser) c.1148G>A c.1365G>A c.3334G>A (p.Gly1112Ser) n.293G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769264G>C | CA384893518 | SCN8A | c.3301G>C (p.Gly1101Arg) c.1148G>C c.1365G>C c.3334G>C (p.Gly1112Arg) n.293G>C | |
| 12 | g.51769264G= | CA2036188581 | SCN8A | c.3301G= (p.Gly1101=) c.1148G= c.1365G= c.3334G= (p.Gly1112=) n.293G= | |
| 12 | g.51769264G>T | CA384893519 | SCN8A | c.3301G>T (p.Gly1101Cys) c.1148G>T c.1365G>T c.3334G>T (p.Gly1112Cys) n.293G>T | |
| 12 | g.51769265G>A | CA384893523 | SCN8A | c.3302G>A (p.Gly1101Asp) c.1149G>A c.1366G>A c.3335G>A (p.Gly1112Asp) n.294G>A | gnomAD v4 |
| 12 | g.51769265G>C | CA384893527 | SCN8A | c.3302G>C (p.Gly1101Ala) c.1149G>C c.1366G>C c.3335G>C (p.Gly1112Ala) n.294G>C | |
| 12 | g.51769265G>T | CA384893524 | SCN8A | c.3302G>T (p.Gly1101Val) c.1149G>T c.1366G>T c.3335G>T (p.Gly1112Val) n.294G>T | |
| 12 | g.51769266C>A | CA480061411 | SCN8A | c.3303C>A (p.Gly1101=) c.1150C>A c.1367C>A c.3336C>A (p.Gly1112=) n.295C>A | |
| 12 | g.51769266C= | CA2036188584 | SCN8A | c.3303C= (p.Gly1101=) c.1150C= c.1367C= c.3336C= (p.Gly1112=) n.295C= | |
| 12 | g.51769266C>G | CA480061412 | SCN8A | c.3303C>G (p.Gly1101=) c.1150C>G c.1367C>G c.3336C>G (p.Gly1112=) n.295C>G | |
| 12 | g.51769266C>T | CA480061413 | SCN8A | c.3303C>T (p.Gly1101=) c.1150C>T c.1367C>T c.3336C>T (p.Gly1112=) n.295C>T | ClinVar dbSNP |
| 12 | g.51769267G>A | CA384893531 | SCN8A | c.3304G>A (p.Glu1102Lys) c.1151G>A c.1368G>A c.3337G>A (p.Glu1113Lys) n.296G>A | |
| 12 | g.51769267G>C | CA384893532 | SCN8A | c.3304G>C (p.Glu1102Gln) c.1151G>C c.1368G>C c.3337G>C (p.Glu1113Gln) n.296G>C | |
| 12 | g.51769267G= | CA2036188588 | SCN8A | c.3304G= (p.Glu1102=) c.1151G= c.1368G= c.3337G= (p.Glu1113=) n.296G= | |
| 12 | g.51769267G>T | CA384893533 | SCN8A | c.3304G>T (p.Glu1102Ter) c.1151G>T c.1368G>T c.3337G>T (p.Glu1113Ter) n.296G>T | dbSNP |
| 12 | g.51769268A>C | CA384893534 | SCN8A | c.3305A>C (p.Glu1102Ala) c.1152A>C c.1369A>C c.3338A>C (p.Glu1113Ala) n.297A>C | |
| 12 | g.51769268A>G | CA384893537 | SCN8A | c.3305A>G (p.Glu1102Gly) c.1152A>G c.1369A>G c.3338A>G (p.Glu1113Gly) n.297A>G | |
| 12 | g.51769268A>T | CA384893540 | SCN8A | c.3305A>T (p.Glu1102Val) c.1152A>T c.1369A>T c.3338A>T (p.Glu1113Val) n.297A>T | |
| 12 | g.51769269G>A | CA6571575 | SCN8A | c.3306G>A (p.Glu1102=) c.1153G>A c.1370G>A c.3339G>A (p.Glu1113=) n.298G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51769269G>C | CA384893544 | SCN8A | c.3306G>C (p.Glu1102Asp) c.1153G>C c.1370G>C c.3339G>C (p.Glu1113Asp) n.298G>C | |
| 12 | g.51769269G= | CA2036188591 | SCN8A | c.3306G= (p.Glu1102=) c.1153G= c.1370G= c.3339G= (p.Glu1113=) n.298G= | |
| 12 | g.51769269G>T | CA384893547 | SCN8A | c.3306G>T (p.Glu1102Asp) c.1153G>T c.1370G>T c.3339G>T (p.Glu1113Asp) n.298G>T | |
| 12 | g.51769270T>A | CA6571576 | SCN8A | c.3307T>A (p.Ser1103Thr) c.1154T>A c.1371T>A c.3340T>A (p.Ser1114Thr) n.299T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769270T>C | CA384893552 | SCN8A | c.3307T>C (p.Ser1103Pro) c.1154T>C c.1371T>C c.3340T>C (p.Ser1114Pro) n.299T>C | |
| 12 | g.51769270T>G | CA384893555 | SCN8A | c.3307T>G (p.Ser1103Ala) c.1154T>G c.1371T>G c.3340T>G (p.Ser1114Ala) n.299T>G | |
| 12 | g.51769270T= | CA2036188599 | SCN8A | c.3307T= (p.Ser1103=) c.1154T= c.1371T= c.3340T= (p.Ser1114=) n.299T= | |
| 12 | g.51769271C>A | CA384893574 | SCN8A | c.3308C>A (p.Ser1103Tyr) c.1155C>A c.1372C>A c.3341C>A (p.Ser1114Tyr) n.300C>A | |
| 12 | g.51769271C>G | CA384893562 | SCN8A | c.3308C>G (p.Ser1103Cys) c.1155C>G c.1372C>G c.3341C>G (p.Ser1114Cys) n.300C>G | |
| 12 | g.51769271C>T | CA384893572 | SCN8A | c.3308C>T (p.Ser1103Phe) c.1155C>T c.1372C>T c.3341C>T (p.Ser1114Phe) n.300C>T | |
| 12 | g.51769272T>A | CA480061422 | SCN8A | c.3309T>A (p.Ser1103=) c.1156T>A c.1373T>A c.3342T>A (p.Ser1114=) n.301T>A | |
| 12 | g.51769272T>C | CA480061424 | SCN8A | c.3309T>C (p.Ser1103=) c.1156T>C c.1373T>C c.3342T>C (p.Ser1114=) n.301T>C | |
| 12 | g.51769272T>G | CA480061425 | SCN8A | c.3309T>G (p.Ser1103=) c.1156T>G c.1373T>G c.3342T>G (p.Ser1114=) n.301T>G | |
| 12 | g.51769273G>A | CA384893577 | SCN8A | c.3310G>A (p.Asp1104Asn) c.1157G>A c.1374G>A c.3343G>A (p.Asp1115Asn) n.302G>A | |
| 12 | g.51769273G>C | CA384893578 | SCN8A | c.3310G>C (p.Asp1104His) c.1157G>C c.1374G>C c.3343G>C (p.Asp1115His) n.302G>C | |
| 12 | g.51769273G>T | CA384893580 | SCN8A | c.3310G>T (p.Asp1104Tyr) c.1157G>T c.1374G>T c.3343G>T (p.Asp1115Tyr) n.302G>T | |
| 12 | g.51769274A>C | CA384893583 | SCN8A | c.3311A>C (p.Asp1104Ala) c.1158A>C c.1375A>C c.3344A>C (p.Asp1115Ala) n.303A>C | |
| 12 | g.51769274A>G | CA384893589 | SCN8A | c.3311A>G (p.Asp1104Gly) c.1158A>G c.1375A>G c.3344A>G (p.Asp1115Gly) n.303A>G | gnomAD v4 |
| 12 | g.51769274A>T | CA384893591 | SCN8A | c.3311A>T (p.Asp1104Val) c.1158A>T c.1375A>T c.3344A>T (p.Asp1115Val) n.303A>T | |
| 12 | g.51769275C>A | CA384893594 | SCN8A | c.3312C>A (p.Asp1104Glu) c.1159C>A c.1376C>A c.3345C>A (p.Asp1115Glu) n.304C>A | |
| 12 | g.51769275C>G | CA384893601 | SCN8A | c.3312C>G (p.Asp1104Glu) c.1159C>G c.1376C>G c.3345C>G (p.Asp1115Glu) n.304C>G | |
| 12 | g.51769275C>T | CA480061429 | SCN8A | c.3312C>T (p.Asp1104=) c.1159C>T c.1376C>T c.3345C>T (p.Asp1115=) n.304C>T | gnomAD v4 |
| 12 | g.51769276T>A | CA384893605 | SCN8A | c.3313T>A (p.Phe1105Ile) c.1160T>A c.1377T>A c.3346T>A (p.Phe1116Ile) n.305T>A | |
| 12 | g.51769276T>C | CA384893607 | SCN8A | c.3313T>C (p.Phe1105Leu) c.1160T>C c.1377T>C c.3346T>C (p.Phe1116Leu) n.305T>C | |
| 12 | g.51769276T>G | CA384893609 | SCN8A | c.3313T>G (p.Phe1105Val) c.1160T>G c.1377T>G c.3346T>G (p.Phe1116Val) n.305T>G | |
| 12 | g.51769277T>A | CA384893610 | SCN8A | c.3314T>A (p.Phe1105Tyr) c.1161T>A c.1378T>A c.3347T>A (p.Phe1116Tyr) n.306T>A | |
| 12 | g.51769277T>C | CA384893611 | SCN8A | c.3314T>C (p.Phe1105Ser) c.1161T>C c.1378T>C c.3347T>C (p.Phe1116Ser) n.306T>C | |
| 12 | g.51769277T>G | CA236318650 | SCN8A | c.3314T>G (p.Phe1105Cys) c.1161T>G c.1378T>G c.3347T>G (p.Phe1116Cys) n.306T>G | dbSNP |
| 12 | g.51769277T= | CA2036188607 | SCN8A | c.3314T= (p.Phe1105=) c.1161T= c.1378T= c.3347T= (p.Phe1116=) n.306T= | |
| 12 | g.51769278T>A | CA384893616 | SCN8A | c.3315T>A (p.Phe1105Leu) c.1162T>A c.1379T>A c.3348T>A (p.Phe1116Leu) n.307T>A | |
| 12 | g.51769278T>C | CA480061433 | SCN8A | c.3315T>C (p.Phe1105=) c.1162T>C c.1379T>C c.3348T>C (p.Phe1116=) n.307T>C | |
| 12 | g.51769278T>G | CA384893612 | SCN8A | c.3315T>G (p.Phe1105Leu) c.1162T>G c.1379T>G c.3348T>G (p.Phe1116Leu) n.307T>G | |
| 12 | g.51769279G>A | CA384893619 | SCN8A | c.3316G>A (p.Glu1106Lys) c.1163G>A c.1380G>A c.3349G>A (p.Glu1117Lys) n.308G>A | |
| 12 | g.51769279G>C | CA384893620 | SCN8A | c.3316G>C (p.Glu1106Gln) c.1163G>C c.1380G>C c.3349G>C (p.Glu1117Gln) n.308G>C | |
| 12 | g.51769279G>T | CA384893621 | SCN8A | c.3316G>T (p.Glu1106Ter) c.1163G>T c.1380G>T c.3349G>T (p.Glu1117Ter) n.308G>T | |
| 12 | g.51769280A>C | CA384893623 | SCN8A | c.3317A>C (p.Glu1106Ala) c.1164A>C c.1381A>C c.3350A>C (p.Glu1117Ala) n.309A>C | ClinVar dbSNP |
| 12 | g.51769280A>G | CA384893625 | SCN8A | c.3317A>G (p.Glu1106Gly) c.1164A>G c.1381A>G c.3350A>G (p.Glu1117Gly) n.309A>G | |
| 12 | g.51769280A>T | CA384893627 | SCN8A | c.3317A>T (p.Glu1106Val) c.1164A>T c.1381A>T c.3350A>T (p.Glu1117Val) n.309A>T | |
| 12 | g.51769281G>A | CA480061437 | SCN8A | c.3318G>A (p.Glu1106=) c.1165G>A c.1382G>A c.3351G>A (p.Glu1117=) n.310G>A | |
| 12 | g.51769281G>C | CA384893630 | SCN8A | c.3318G>C (p.Glu1106Asp) c.1165G>C c.1382G>C c.3351G>C (p.Glu1117Asp) n.310G>C | COSMIC COSMIC |
| 12 | g.51769281G>T | CA384893631 | SCN8A | c.3318G>T (p.Glu1106Asp) c.1165G>T c.1382G>T c.3351G>T (p.Glu1117Asp) n.310G>T | |
| 12 | g.51769282A= | CA2036188612 | SCN8A | c.3319A= (p.Asn1107=) c.1166A= c.1383A= c.3352A= (p.Asn1118=) n.311A= | |
| 12 | g.51769282A>C | CA384893632 | SCN8A | c.3319A>C (p.Asn1107His) c.1166A>C c.1383A>C c.3352A>C (p.Asn1118His) n.311A>C | ClinVar dbSNP |
| 12 | g.51769282A>G | CA384893633 | SCN8A | c.3319A>G (p.Asn1107Asp) c.1166A>G c.1383A>G c.3352A>G (p.Asn1118Asp) n.311A>G | |
| 12 | g.51769282A>T | CA384893634 | SCN8A | c.3319A>T (p.Asn1107Tyr) c.1166A>T c.1383A>T c.3352A>T (p.Asn1118Tyr) n.311A>T | |
| 12 | g.51769283A= | CA2036188619 | SCN8A | c.3320A= (p.Asn1107=) c.1167A= c.1384A= c.3353A= (p.Asn1118=) n.312A= | |
| 12 | g.51769283A>C | CA384893637 | SCN8A | c.3320A>C (p.Asn1107Thr) c.1167A>C c.1384A>C c.3353A>C (p.Asn1118Thr) n.312A>C | dbSNP gnomAD v4 |
| 12 | g.51769283A>G | CA384893635 | SCN8A | c.3320A>G (p.Asn1107Ser) c.1167A>G c.1384A>G c.3353A>G (p.Asn1118Ser) n.312A>G | dbSNP |
| 12 | g.51769283A>T | CA384893636 | SCN8A | c.3320A>T (p.Asn1107Ile) c.1167A>T c.1384A>T c.3353A>T (p.Asn1118Ile) n.312A>T | |
| 12 | g.51769284C>A | CA384893642 | SCN8A | c.3321C>A (p.Asn1107Lys) c.1168C>A c.1385C>A c.3354C>A (p.Asn1118Lys) n.313C>A | |
| 12 | g.51769284C= | CA2036188626 | SCN8A | c.3321C= (p.Asn1107=) c.1168C= c.1385C= c.3354C= (p.Asn1118=) n.313C= | |
| 12 | g.51769284C>G | CA384893646 | SCN8A | c.3321C>G (p.Asn1107Lys) c.1168C>G c.1385C>G c.3354C>G (p.Asn1118Lys) n.313C>G | |
| 12 | g.51769284C>T | CA6571577 | SCN8A | c.3321C>T (p.Asn1107=) c.1168C>T c.1385C>T c.3354C>T (p.Asn1118=) n.313C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769285C>A | CA384893656 | SCN8A | c.3322C>A (p.Leu1108Ile) c.1169C>A c.1386C>A c.3355C>A (p.Leu1119Ile) n.314C>A | |
| 12 | g.51769285C>G | CA384893657 | SCN8A | c.3322C>G (p.Leu1108Val) c.1169C>G c.1386C>G c.3355C>G (p.Leu1119Val) n.314C>G | gnomAD v4 |
| 12 | g.51769285C>T | CA384893658 | SCN8A | c.3322C>T (p.Leu1108Phe) c.1169C>T c.1386C>T c.3355C>T (p.Leu1119Phe) n.314C>T | |
| 12 | g.51769286T>A | CA384893659 | SCN8A | c.3323T>A (p.Leu1108His) c.1170T>A c.1387T>A c.3356T>A (p.Leu1119His) n.315T>A | |
| 12 | g.51769286T>C | CA384893662 | SCN8A | c.3323T>C (p.Leu1108Pro) c.1170T>C c.1387T>C c.3356T>C (p.Leu1119Pro) n.315T>C | |
| 12 | g.51769286T>G | CA384893663 | SCN8A | c.3323T>G (p.Leu1108Arg) c.1170T>G c.1387T>G c.3356T>G (p.Leu1119Arg) n.315T>G | |
| 12 | g.51769287C>A | CA480061445 | SCN8A | c.3324C>A (p.Leu1108=) c.1171C>A c.1388C>A c.3357C>A (p.Leu1119=) n.316C>A | |
| 12 | g.51769287C>G | CA480061446 | SCN8A | c.3324C>G (p.Leu1108=) c.1171C>G c.1388C>G c.3357C>G (p.Leu1119=) n.316C>G | |
| 12 | g.51769287C>T | CA480061448 | SCN8A | c.3324C>T (p.Leu1108=) c.1171C>T c.1388C>T c.3357C>T (p.Leu1119=) n.316C>T | gnomAD v4 |
| 12 | g.51769288A= | CA2036188630 | SCN8A | c.3325A= (p.Asn1109=) c.1172A= c.1389A= c.3358A= (p.Asn1120=) n.317A= | |
| 12 | g.51769288A>C | CA384893664 | SCN8A | c.3325A>C (p.Asn1109His) c.1172A>C c.1389A>C c.3358A>C (p.Asn1120His) n.317A>C | dbSNP |
| 12 | g.51769288A>G | CA384893665 | SCN8A | c.3325A>G (p.Asn1109Asp) c.1172A>G c.1389A>G c.3358A>G (p.Asn1120Asp) n.317A>G | |
| 12 | g.51769288A>T | CA384893672 | SCN8A | c.3325A>T (p.Asn1109Tyr) c.1172A>T c.1389A>T c.3358A>T (p.Asn1120Tyr) n.317A>T | |
| 12 | g.51769289A>C | CA384893682 | SCN8A | c.3326A>C (p.Asn1109Thr) c.1173A>C c.1390A>C c.3359A>C (p.Asn1120Thr) n.318A>C | |
| 12 | g.51769289A>G | CA384893684 | SCN8A | c.3326A>G (p.Asn1109Ser) c.1173A>G c.1390A>G c.3359A>G (p.Asn1120Ser) n.318A>G | |
| 12 | g.51769289A>T | CA384893676 | SCN8A | c.3326A>T (p.Asn1109Ile) c.1173A>T c.1390A>T c.3359A>T (p.Asn1120Ile) n.318A>T | |
| 12 | g.51769290C>A | CA384893685 | SCN8A | c.3327C>A (p.Asn1109Lys) c.1174C>A c.1391C>A c.3360C>A (p.Asn1120Lys) n.319C>A | |
| 12 | g.51769290C= | CA2036188635 | SCN8A | c.3327C= (p.Asn1109=) c.1174C= c.1391C= c.3360C= (p.Asn1120=) n.319C= | |
| 12 | g.51769290C>G | CA384893686 | SCN8A | c.3327C>G (p.Asn1109Lys) c.1174C>G c.1391C>G c.3360C>G (p.Asn1120Lys) n.319C>G | ClinVar |
| 12 | g.51769290C>T | CA480061450 | SCN8A | c.3327C>T (p.Asn1109=) c.1174C>T c.1391C>T c.3360C>T (p.Asn1120=) n.319C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51769291A>C | CA384893689 | SCN8A | c.3328A>C (p.Thr1110Pro) c.1175A>C c.1392A>C c.3361A>C (p.Thr1121Pro) n.320A>C | |
| 12 | g.51769291A>G | CA384893692 | SCN8A | c.3328A>G (p.Thr1110Ala) c.1175A>G c.1392A>G c.3361A>G (p.Thr1121Ala) n.320A>G | gnomAD v4 |
| 12 | g.51769291A>T | CA384893695 | SCN8A | c.3328A>T (p.Thr1110Ser) c.1175A>T c.1392A>T c.3361A>T (p.Thr1121Ser) n.320A>T | |
| 12 | g.51769292C>A | CA384893704 | SCN8A | c.3329C>A (p.Thr1110Lys) c.1176C>A c.1393C>A c.3362C>A (p.Thr1121Lys) n.321C>A | |
| 12 | g.51769292C>G | CA384893707 | SCN8A | c.3329C>G (p.Thr1110Arg) c.1176C>G c.1393C>G c.3362C>G (p.Thr1121Arg) n.321C>G | |
| 12 | g.51769292C>T | CA384893711 | SCN8A | c.3329C>T (p.Thr1110Ile) c.1176C>T c.1393C>T c.3362C>T (p.Thr1121Ile) n.321C>T | |
| 12 | g.51769293A>C | CA480061452 | SCN8A | c.3330A>C (p.Thr1110=) c.1177A>C c.1394A>C c.3363A>C (p.Thr1121=) n.322A>C | |
| 12 | g.51769293A>G | CA480061453 | SCN8A | c.3330A>G (p.Thr1110=) c.1177A>G c.1394A>G c.3363A>G (p.Thr1121=) n.322A>G | ClinVar gnomAD v4 |
| 12 | g.51769293A>T | CA480061454 | SCN8A | c.3330A>T (p.Thr1110=) c.1177A>T c.1394A>T c.3363A>T (p.Thr1121=) n.322A>T | |
| 12 | g.51769294G>A | CA384893714 | SCN8A | c.3331G>A (p.Glu1111Lys) c.1178G>A c.1395G>A c.3364G>A (p.Glu1122Lys) n.323G>A | |
| 12 | g.51769294G>C | CA384893718 | SCN8A | c.3331G>C (p.Glu1111Gln) c.1178G>C c.1395G>C c.3364G>C (p.Glu1122Gln) n.323G>C | ClinVar |
| 12 | g.51769294G= | CA2036188637 | SCN8A | c.3331G= (p.Glu1111=) c.1178G= c.1395G= c.3364G= (p.Glu1122=) n.323G= | |
| 12 | g.51769294G>T | CA384893720 | SCN8A | c.3331G>T (p.Glu1111Ter) c.1178G>T c.1395G>T c.3364G>T (p.Glu1122Ter) n.323G>T | dbSNP |
| 12 | g.51769295A>C | CA384893724 | SCN8A | c.3332A>C (p.Glu1111Ala) c.1179A>C c.1396A>C c.3365A>C (p.Glu1122Ala) n.324A>C | |
| 12 | g.51769295A>G | CA384893725 | SCN8A | c.3332A>G (p.Glu1111Gly) c.1179A>G c.1396A>G c.3365A>G (p.Glu1122Gly) n.324A>G | |
| 12 | g.51769295A>T | CA384893726 | SCN8A | c.3332A>T (p.Glu1111Val) c.1179A>T c.1396A>T c.3365A>T (p.Glu1122Val) n.324A>T | |
| 12 | g.51769296G>A | CA480061455 | SCN8A | c.3333G>A (p.Glu1111=) c.1180G>A c.1397G>A c.3366G>A (p.Glu1122=) n.325G>A | |
| 12 | g.51769296G>C | CA384893728 | SCN8A | c.3333G>C (p.Glu1111Asp) c.1180G>C c.1397G>C c.3366G>C (p.Glu1122Asp) n.325G>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51769296G= | CA2036188640 | SCN8A | c.3333G= (p.Glu1111=) c.1180G= c.1397G= c.3366G= (p.Glu1122=) n.325G= | |
| 12 | g.51769296G>T | CA384893730 | SCN8A | c.3333G>T (p.Glu1111Asp) c.1180G>T c.1397G>T c.3366G>T (p.Glu1122Asp) n.325G>T | |
| 12 | g.51769297G>A | CA384893734 | SCN8A | c.3334G>A (p.Asp1112Asn) c.1181G>A c.1398G>A c.3367G>A (p.Asp1123Asn) n.326G>A | |
| 12 | g.51769297G>C | CA384893742 | SCN8A | c.3334G>C (p.Asp1112His) c.1181G>C c.1398G>C c.3367G>C (p.Asp1123His) n.326G>C | |
| 12 | g.51769297G>T | CA384893743 | SCN8A | c.3334G>T (p.Asp1112Tyr) c.1181G>T c.1398G>T c.3367G>T (p.Asp1123Tyr) n.326G>T | |
| 12 | g.51769298A= | CA2036188644 | SCN8A | c.3335A= (p.Asp1112=) c.1182A= c.1399A= c.3368A= (p.Asp1123=) n.327A= | |
| 12 | g.51769298A>C | CA384893746 | SCN8A | c.3335A>C (p.Asp1112Ala) c.1182A>C c.1399A>C c.3368A>C (p.Asp1123Ala) n.327A>C | |
| 12 | g.51769298A>G | CA6571578 | SCN8A | c.3335A>G (p.Asp1112Gly) c.1182A>G c.1399A>G c.3368A>G (p.Asp1123Gly) n.327A>G | dbSNP ExAC gnomAD v2 |
| 12 | g.51769298A>T | CA384893751 | SCN8A | c.3335A>T (p.Asp1112Val) c.1182A>T c.1399A>T c.3368A>T (p.Asp1123Val) n.327A>T | |
| 12 | g.51769299T>A | CA384893758 | SCN8A | c.3336T>A (p.Asp1112Glu) c.1183T>A c.1400T>A c.3369T>A (p.Asp1123Glu) n.328T>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.51769299T>C | CA480061457 | SCN8A | c.3336T>C (p.Asp1112=) c.1183T>C c.1400T>C c.3369T>C (p.Asp1123=) n.328T>C | |
| 12 | g.51769299T>G | CA384893760 | SCN8A | c.3336T>G (p.Asp1112Glu) c.1183T>G c.1400T>G c.3369T>G (p.Asp1123Glu) n.328T>G | |
| 12 | g.51769299T= | CA2036188650 | SCN8A | c.3336T= (p.Asp1112=) c.1183T= c.1400T= c.3369T= (p.Asp1123=) n.328T= | |
| 12 | g.51769300G>A | CA384893764 | SCN8A | c.3337G>A (p.Val1113Ile) c.1184G>A c.1401G>A c.3370G>A (p.Val1124Ile) n.329G>A | |
| 12 | g.51769300G>C | CA384893766 | SCN8A | c.3337G>C (p.Val1113Leu) c.1184G>C c.1401G>C c.3370G>C (p.Val1124Leu) n.329G>C | |
| 12 | g.51769300G>T | CA384893771 | SCN8A | c.3337G>T (p.Val1113Phe) c.1184G>T c.1401G>T c.3370G>T (p.Val1124Phe) n.329G>T | |
| 12 | g.51769301T>A | CA384893776 | SCN8A | c.3338T>A (p.Val1113Asp) c.1185T>A c.1402T>A c.3371T>A (p.Val1124Asp) n.330T>A | |
| 12 | g.51769301T>C | CA384893783 | SCN8A | c.3338T>C (p.Val1113Ala) c.1185T>C c.1402T>C c.3371T>C (p.Val1124Ala) n.330T>C | |
| 12 | g.51769301T>G | CA384893786 | SCN8A | c.3338T>G (p.Val1113Gly) c.1185T>G c.1402T>G c.3371T>G (p.Val1124Gly) n.330T>G | |
| 12 | g.51769302T>A | CA480061462 | SCN8A | c.3339T>A (p.Val1113=) c.1186T>A c.1403T>A c.3372T>A (p.Val1124=) n.331T>A | |
| 12 | g.51769302T>C | CA480061463 | SCN8A | c.3339T>C (p.Val1113=) c.1186T>C c.1403T>C c.3372T>C (p.Val1124=) n.331T>C | ClinVar dbSNP |
| 12 | g.51769302T>G | CA480061464 | SCN8A | c.3339T>G (p.Val1113=) c.1186T>G c.1403T>G c.3372T>G (p.Val1124=) n.331T>G | |
| 12 | g.51769303A>C | CA384893795 | SCN8A | c.3340A>C (p.Ser1114Arg) c.1187A>C c.1404A>C c.3373A>C (p.Ser1125Arg) n.332A>C | |
| 12 | g.51769303A>G | CA384893798 | SCN8A | c.3340A>G (p.Ser1114Gly) c.1187A>G c.1404A>G c.3373A>G (p.Ser1125Gly) n.332A>G | |
| 12 | g.51769303A>T | CA384893790 | SCN8A | c.3340A>T (p.Ser1114Cys) c.1187A>T c.1404A>T c.3373A>T (p.Ser1125Cys) n.332A>T | |
| 12 | g.51769306_51769308del | CA2575160198 | SCN8A | c.3343_3345del (p.Ser1115del) c.1190_1192del c.1407_1409del c.3376_3378del (p.Ser1126del) n.335_337del |