UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 12 | g.51769304G>A | CA384893806 | SCN8A | c.3341G>A (p.Ser1114Asn) c.1188G>A c.1405G>A c.3374G>A (p.Ser1125Asn) n.333G>A | |
| 12 | g.51769304G>C | CA384893801 | SCN8A | c.3341G>C (p.Ser1114Thr) c.1188G>C c.1405G>C c.3374G>C (p.Ser1125Thr) n.333G>C | |
| 12 | g.51769304G>T | CA384893807 | SCN8A | c.3341G>T (p.Ser1114Ile) c.1188G>T c.1405G>T c.3374G>T (p.Ser1125Ile) n.333G>T | |
| 12 | g.51769305C>A | CA384893811 | SCN8A | c.3342C>A (p.Ser1114Arg) c.1189C>A c.1406C>A c.3375C>A (p.Ser1125Arg) n.334C>A | |
| 12 | g.51769305C>G | CA384893827 | SCN8A | c.3342C>G (p.Ser1114Arg) c.1189C>G c.1406C>G c.3375C>G (p.Ser1125Arg) n.334C>G | |
| 12 | g.51769305C>T | CA480061471 | SCN8A | c.3342C>T (p.Ser1114=) c.1189C>T c.1406C>T c.3375C>T (p.Ser1125=) n.334C>T | |
| 12 | g.51769306A= | CA2036188656 | SCN8A | c.3343A= (p.Ser1115=) c.1190A= c.1407A= c.3376A= (p.Ser1126=) n.335A= | |
| 12 | g.51769306A>C | CA384893831 | SCN8A | c.3343A>C (p.Ser1115Arg) c.1190A>C c.1407A>C c.3376A>C (p.Ser1126Arg) n.335A>C | |
| 12 | g.51769306A>G | CA384893834 | SCN8A | c.3343A>G (p.Ser1115Gly) c.1190A>G c.1407A>G c.3376A>G (p.Ser1126Gly) n.335A>G | dbSNP gnomAD v4 |
| 12 | g.51769306A>T | CA384893836 | SCN8A | c.3343A>T (p.Ser1115Cys) c.1190A>T c.1407A>T c.3376A>T (p.Ser1126Cys) n.335A>T | |
| 12 | g.51769307G>A | CA384893839 | SCN8A | c.3344G>A (p.Ser1115Asn) c.1191G>A c.1408G>A c.3377G>A (p.Ser1126Asn) n.336G>A | gnomAD v4 |
| 12 | g.51769307G>C | CA384893840 | SCN8A | c.3344G>C (p.Ser1115Thr) c.1191G>C c.1408G>C c.3377G>C (p.Ser1126Thr) n.336G>C | |
| 12 | g.51769307G>T | CA384893841 | SCN8A | c.3344G>T (p.Ser1115Ile) c.1191G>T c.1408G>T c.3377G>T (p.Ser1126Ile) n.336G>T | |
| 12 | g.51769308C>A | CA384893843 | SCN8A | c.3345C>A (p.Ser1115Arg) c.1192C>A c.1409C>A c.3378C>A (p.Ser1126Arg) n.337C>A | gnomAD v4 |
| 12 | g.51769308C= | CA2036188666 | SCN8A | c.3345C= (p.Ser1115=) c.1192C= c.1409C= c.3378C= (p.Ser1126=) n.337C= | |
| 12 | g.51769308C>G | CA384893845 | SCN8A | c.3345C>G (p.Ser1115Arg) c.1192C>G c.1409C>G c.3378C>G (p.Ser1126Arg) n.337C>G | |
| 12 | g.51769308C>T | CA6571579 | SCN8A | c.3345C>T (p.Ser1115=) c.1192C>T c.1409C>T c.3378C>T (p.Ser1126=) n.337C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769309G>A | CA384893855 | SCN8A | c.3346G>A (p.Glu1116Lys) c.1193G>A c.1410G>A c.3379G>A (p.Glu1127Lys) n.338G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.51769309G>C | CA384893854 | SCN8A | c.3346G>C (p.Glu1116Gln) c.1193G>C c.1410G>C c.3379G>C (p.Glu1127Gln) n.338G>C | gnomAD v4 |
| 12 | g.51769309G= | CA2036188676 | SCN8A | c.3346G= (p.Glu1116=) c.1193G= c.1410G= c.3379G= (p.Glu1127=) n.338G= | |
| 12 | g.51769309G>T | CA384893853 | SCN8A | c.3346G>T (p.Glu1116Ter) c.1193G>T c.1410G>T c.3379G>T (p.Glu1127Ter) n.338G>T | dbSNP gnomAD v4 |
| 12 | g.51769310A>C | CA384893859 | SCN8A | c.3347A>C (p.Glu1116Ala) c.1194A>C c.1411A>C c.3380A>C (p.Glu1127Ala) n.339A>C | |
| 12 | g.51769310A>G | CA384893864 | SCN8A | c.3347A>G (p.Glu1116Gly) c.1194A>G c.1411A>G c.3380A>G (p.Glu1127Gly) n.339A>G | |
| 12 | g.51769310A>T | CA384893865 | SCN8A | c.3347A>T (p.Glu1116Val) c.1194A>T c.1411A>T c.3380A>T (p.Glu1127Val) n.339A>T | |
| 12 | g.51769311G>A | CA480061482 | SCN8A | c.3348G>A (p.Glu1116=) c.1195G>A c.1412G>A c.3381G>A (p.Glu1127=) n.340G>A | |
| 12 | g.51769311G>C | CA384893873 | SCN8A | c.3348G>C (p.Glu1116Asp) c.1195G>C c.1412G>C c.3381G>C (p.Glu1127Asp) n.340G>C | |
| 12 | g.51769311G>T | CA384893875 | SCN8A | c.3348G>T (p.Glu1116Asp) c.1195G>T c.1412G>T c.3381G>T (p.Glu1127Asp) n.340G>T | |
| 12 | g.51769312T>A | CA384893876 | SCN8A | c.3349T>A (p.Ser1117Thr) c.1196T>A c.1413T>A c.3382T>A (p.Ser1128Thr) n.341T>A | |
| 12 | g.51769312T>C | CA384893879 | SCN8A | c.3349T>C (p.Ser1117Pro) c.1196T>C c.1413T>C c.3382T>C (p.Ser1128Pro) n.341T>C | |
| 12 | g.51769312T>G | CA384893884 | SCN8A | c.3349T>G (p.Ser1117Ala) c.1196T>G c.1413T>G c.3382T>G (p.Ser1128Ala) n.341T>G | |
| 12 | g.51769313C>A | CA384893891 | SCN8A | c.3350C>A (p.Ser1117Ter) c.1197C>A c.1414C>A c.3383C>A (p.Ser1128Ter) n.342C>A | dbSNP gnomAD v4 |
| 12 | g.51769313C= | CA2036188686 | SCN8A | c.3350C= (p.Ser1117=) c.1197C= c.1414C= c.3383C= (p.Ser1128=) n.342C= | |
| 12 | g.51769313C>G | CA384893894 | SCN8A | c.3350C>G (p.Ser1117Trp) c.1197C>G c.1414C>G c.3383C>G (p.Ser1128Trp) n.342C>G | |
| 12 | g.51769313C>T | CA6571580 | SCN8A | c.3350C>T (p.Ser1117Leu) c.1197C>T c.1414C>T c.3383C>T (p.Ser1128Leu) n.342C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.51769314G>A | CA6571581 | SCN8A | c.3351G>A (p.Ser1117=) c.1198G>A c.1415G>A c.3384G>A (p.Ser1128=) n.343G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51769314G>C | CA480061488 | SCN8A | c.3351G>C (p.Ser1117=) c.1198G>C c.1415G>C c.3384G>C (p.Ser1128=) n.343G>C | |
| 12 | g.51769314G= | CA2036188697 | SCN8A | c.3351G= (p.Ser1117=) c.1198G= c.1415G= c.3384G= (p.Ser1128=) n.343G= | |
| 12 | g.51769314G>T | CA480061489 | SCN8A | c.3351G>T (p.Ser1117=) c.1198G>T c.1415G>T c.3384G>T (p.Ser1128=) n.343G>T | COSMIC COSMIC |
| 12 | g.51769315G>A | CA384893906 | SCN8A | c.3352G>A (p.Asp1118Asn) c.1199G>A c.1416G>A c.3385G>A (p.Asp1129Asn) n.344G>A | |
| 12 | g.51769315G>C | CA384893905 | SCN8A | c.3352G>C (p.Asp1118His) c.1199G>C c.1416G>C c.3385G>C (p.Asp1129His) n.344G>C | |
| 12 | g.51769315G= | CA2036188701 | SCN8A | c.3352G= (p.Asp1118=) c.1199G= c.1416G= c.3385G= (p.Asp1129=) n.344G= | |
| 12 | g.51769315G>T | CA384893904 | SCN8A | c.3352G>T (p.Asp1118Tyr) c.1199G>T c.1416G>T c.3385G>T (p.Asp1129Tyr) n.344G>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.51769316A>C | CA384893908 | SCN8A | c.3353A>C (p.Asp1118Ala) c.1200A>C c.1417A>C c.3386A>C (p.Asp1129Ala) n.345A>C | |
| 12 | g.51769316A>G | CA384893910 | SCN8A | c.3353A>G (p.Asp1118Gly) c.1200A>G c.1417A>G c.3386A>G (p.Asp1129Gly) n.345A>G | |
| 12 | g.51769316A>T | CA384893915 | SCN8A | c.3353A>T (p.Asp1118Val) c.1200A>T c.1417A>T c.3386A>T (p.Asp1129Val) n.345A>T | |
| 12 | g.51769317T>A | CA384893921 | SCN8A | c.3354T>A (p.Asp1118Glu) c.1201T>A c.1418T>A c.3387T>A (p.Asp1129Glu) n.346T>A | |
| 12 | g.51769317T>C | CA480061492 | SCN8A | c.3354T>C (p.Asp1118=) c.1201T>C c.1418T>C c.3387T>C (p.Asp1129=) n.346T>C | |
| 12 | g.51769317T>G | CA384893924 | SCN8A | c.3354T>G (p.Asp1118Glu) c.1201T>G c.1418T>G c.3387T>G (p.Asp1129Glu) n.346T>G | |
| 12 | g.51769318C>A | CA384893933 | SCN8A | c.3355C>A (p.Pro1119Thr) c.1202C>A c.1419C>A c.3388C>A (p.Pro1130Thr) n.347C>A | |
| 12 | g.51769318C>G | CA384893929 | SCN8A | c.3355C>G (p.Pro1119Ala) c.1202C>G c.1419C>G c.3388C>G (p.Pro1130Ala) n.347C>G | |
| 12 | g.51769318C>T | CA384893927 | SCN8A | c.3355C>T (p.Pro1119Ser) c.1202C>T c.1419C>T c.3388C>T (p.Pro1130Ser) n.347C>T | |
| 12 | g.51769319C>A | CA384893934 | SCN8A | c.3356C>A (p.Pro1119His) c.1203C>A c.1420C>A c.3389C>A (p.Pro1130His) n.348C>A | |
| 12 | g.51769319C= | CA2036188706 | SCN8A | c.3356C= (p.Pro1119=) c.1203C= c.1420C= c.3389C= (p.Pro1130=) n.348C= | |
| 12 | g.51769319C>G | CA384893936 | SCN8A | c.3356C>G (p.Pro1119Arg) c.1203C>G c.1420C>G c.3389C>G (p.Pro1130Arg) n.348C>G | |
| 12 | g.51769319C>T | CA318262 | SCN8A | c.3356C>T (p.Pro1119Leu) c.1203C>T c.1420C>T c.3389C>T (p.Pro1130Leu) n.348C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769320T>A | CA480061497 | SCN8A | c.3357T>A (p.Pro1119=) c.1204T>A c.1421T>A c.3390T>A (p.Pro1130=) n.349T>A | |
| 12 | g.51769320T>C | CA480061498 | SCN8A | c.3357T>C (p.Pro1119=) c.1204T>C c.1421T>C c.3390T>C (p.Pro1130=) n.349T>C | |
| 12 | g.51769320T>G | CA480061499 | SCN8A | c.3357T>G (p.Pro1119=) c.1204T>G c.1421T>G c.3390T>G (p.Pro1130=) n.349T>G | |
| 12 | g.51769321G>A | CA384893940 | SCN8A | c.3358G>A (p.Glu1120Lys) c.1205G>A c.1422G>A c.3391G>A (p.Glu1131Lys) n.350G>A | gnomAD v4 |
| 12 | g.51769321G>C | CA384893941 | SCN8A | c.3358G>C (p.Glu1120Gln) c.1205G>C c.1422G>C c.3391G>C (p.Glu1131Gln) n.350G>C | |
| 12 | g.51769321G= | CA2036188712 | SCN8A | c.3358G= (p.Glu1120=) c.1205G= c.1422G= c.3391G= (p.Glu1131=) n.350G= | |
| 12 | g.51769321G>T | CA384893942 | SCN8A | c.3358G>T (p.Glu1120Ter) c.1205G>T c.1422G>T c.3391G>T (p.Glu1131Ter) n.350G>T | dbSNP |
| 12 | g.51769322A>C | CA384893943 | SCN8A | c.3359A>C (p.Glu1120Ala) c.1206A>C c.1423A>C c.3392A>C (p.Glu1131Ala) n.351A>C | |
| 12 | g.51769322A>G | CA384893946 | SCN8A | c.3359A>G (p.Glu1120Gly) c.1206A>G c.1423A>G c.3392A>G (p.Glu1131Gly) n.351A>G | |
| 12 | g.51769322A>T | CA384893945 | SCN8A | c.3359A>T (p.Glu1120Val) c.1206A>T c.1423A>T c.3392A>T (p.Glu1131Val) n.351A>T | |
| 12 | g.51769323A>C | CA384893947 | SCN8A | c.3360A>C (p.Glu1120Asp) c.1207A>C c.1424A>C c.3393A>C (p.Glu1131Asp) n.352A>C | |
| 12 | g.51769323A>G | CA480061504 | SCN8A | c.3360A>G (p.Glu1120=) c.1207A>G c.1424A>G c.3393A>G (p.Glu1131=) n.352A>G | |
| 12 | g.51769323A>T | CA384893950 | SCN8A | c.3360A>T (p.Glu1120Asp) c.1207A>T c.1424A>T c.3393A>T (p.Glu1131Asp) n.352A>T | |
| 12 | g.51769324G>A | CA384893957 | SCN8A | c.3361G>A (p.Gly1121Ser) c.1208G>A c.1425G>A c.3394G>A (p.Gly1132Ser) n.353G>A | |
| 12 | g.51769324G>C | CA384893958 | SCN8A | c.3361G>C (p.Gly1121Arg) c.1208G>C c.1425G>C c.3394G>C (p.Gly1132Arg) n.353G>C | |
| 12 | g.51769324G>T | CA384893959 | SCN8A | c.3361G>T (p.Gly1121Cys) c.1208G>T c.1425G>T c.3394G>T (p.Gly1132Cys) n.353G>T | |
| 12 | g.51769325G>A | CA384893962 | SCN8A | c.3362G>A (p.Gly1121Asp) c.1209G>A c.1426G>A c.3395G>A (p.Gly1132Asp) n.354G>A | |
| 12 | g.51769325G>C | CA384893982 | SCN8A | c.3362G>C (p.Gly1121Ala) c.1209G>C c.1426G>C c.3395G>C (p.Gly1132Ala) n.354G>C | |
| 12 | g.51769325G>T | CA384893985 | SCN8A | c.3362G>T (p.Gly1121Val) c.1209G>T c.1426G>T c.3395G>T (p.Gly1132Val) n.354G>T | |
| 12 | g.51769326C>A | CA480061510 | SCN8A | c.3363C>A (p.Gly1121=) c.1210C>A c.1427C>A c.3396C>A (p.Gly1132=) n.355C>A | gnomAD v4 |
| 12 | g.51769326C>G | CA480061508 | SCN8A | c.3363C>G (p.Gly1121=) c.1210C>G c.1427C>G c.3396C>G (p.Gly1132=) n.355C>G | |
| 12 | g.51769326C>T | CA480061509 | SCN8A | c.3363C>T (p.Gly1121=) c.1210C>T c.1427C>T c.3396C>T (p.Gly1132=) n.355C>T | gnomAD v4 |
| 12 | g.51769327A= | CA2036188718 | SCN8A | c.3364A= (p.Ser1122=) c.1211A= c.1428A= c.3397A= (p.Ser1133=) n.356A= | |
| 12 | g.51769327A>C | CA384893989 | SCN8A | c.3364A>C (p.Ser1122Arg) c.1211A>C c.1428A>C c.3397A>C (p.Ser1133Arg) n.356A>C | |
| 12 | g.51769327A>G | CA384893991 | SCN8A | c.3364A>G (p.Ser1122Gly) c.1211A>G c.1428A>G c.3397A>G (p.Ser1133Gly) n.356A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51769327A>T | CA6571582 | SCN8A | c.3364A>T (p.Ser1122Cys) c.1211A>T c.1428A>T c.3397A>T (p.Ser1133Cys) n.356A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51769328G>A | CA384894000 | SCN8A | c.3365G>A (p.Ser1122Asn) c.1212G>A c.1429G>A c.3398G>A (p.Ser1133Asn) n.357G>A | gnomAD v4 |
| 12 | g.51769328G>C | CA384894005 | SCN8A | c.3365G>C (p.Ser1122Thr) c.1212G>C c.1429G>C c.3398G>C (p.Ser1133Thr) n.357G>C | |
| 12 | g.51769328G>T | CA384893998 | SCN8A | c.3365G>T (p.Ser1122Ile) c.1212G>T c.1429G>T c.3398G>T (p.Ser1133Ile) n.357G>T | |
| 12 | g.51769329C>A | CA384894016 | SCN8A | c.3366C>A (p.Ser1122Arg) c.1213C>A c.1430C>A c.3399C>A (p.Ser1133Arg) n.358C>A | |
| 12 | g.51769329C= | CA2036188725 | SCN8A | c.3366C= (p.Ser1122=) c.1213C= c.1430C= c.3399C= (p.Ser1133=) n.358C= | |
| 12 | g.51769329C>G | CA384894008 | SCN8A | c.3366C>G (p.Ser1122Arg) c.1213C>G c.1430C>G c.3399C>G (p.Ser1133Arg) n.358C>G | |
| 12 | g.51769329C>T | CA6571583 | SCN8A | c.3366C>T (p.Ser1122=) c.1213C>T c.1430C>T c.3399C>T (p.Ser1133=) n.358C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51769330A= | CA2036188728 | SCN8A | c.3367A= (p.Lys1123=) c.1214A= c.1431A= c.3400A= (p.Lys1134=) n.359A= | |
| 12 | g.51769330A>C | CA384894017 | SCN8A | c.3367A>C (p.Lys1123Gln) c.1214A>C c.1431A>C c.3400A>C (p.Lys1134Gln) n.359A>C | ClinVar dbSNP |
| 12 | g.51769330A>G | CA384894018 | SCN8A | c.3367A>G (p.Lys1123Glu) c.1214A>G c.1431A>G c.3400A>G (p.Lys1134Glu) n.359A>G | gnomAD v4 |
| 12 | g.51769330A>T | CA384894019 | SCN8A | c.3367A>T (p.Lys1123Ter) c.1214A>T c.1431A>T c.3400A>T (p.Lys1134Ter) n.359A>T | dbSNP |