| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166277134C>T | CA203854 | SCN1A-AS1,SCN9A | c.2723G>A (p.Trp908Ter) c.2690G>A (p.Trp897Ter) c.380G>A (p.Trp127Ter) c.1725G>A n.916C>T c.2336G>A (p.Trp779Ter) c.1979G>A (p.Trp660Ter) n.3037G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.166277134C= | CA1304964952 | SCN1A-AS1,SCN9A | c.2723G= (p.Trp908=) c.2690G= (p.Trp897=) c.380G= (p.Trp127=) c.1725G= n.916C= c.2336G= (p.Trp779=) c.1979G= (p.Trp660=) n.3037G= | dbSNP |