| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38752313A>G | CA145437 | SCN10A | c.1661T>C (p.Leu554Pro) c.1688T>C (p.Leu563Pro) c.1462-2129T>C (n.1462-2129T>C) c.1670T>C (p.Leu557Pro) c.1471-2129T>C (n.1471-2129T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38752313A= | CA1358653241 | SCN10A | c.1661T= (p.Leu554=) c.1688T= (p.Leu563=) c.1462-2129T= (n.1462-2129T=) c.1670T= (p.Leu557=) c.1471-2129T= (n.1471-2129T=) | dbSNP |