| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38725184A>T | CA352156592 | SCN10A | c.3218T>A (p.Val1073Asp) c.3215T>A (p.Val1072Asp) c.3242T>A (p.Val1081Asp) c.2924T>A (p.Val975Asp) c.3227T>A (p.Val1076Asp) c.3224T>A (p.Val1075Asp) c.2933T>A (p.Val978Asp) | dbSNP gnomAD v4 |
| 3 | g.38725184A>G | CA2320322 | SCN10A | c.3218T>C (p.Val1073Ala) c.3215T>C (p.Val1072Ala) c.3242T>C (p.Val1081Ala) c.2924T>C (p.Val975Ala) c.3227T>C (p.Val1076Ala) c.3224T>C (p.Val1075Ala) c.2933T>C (p.Val978Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |