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.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 |