| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166228972C>A | CA118146 | SCN1A-AS1,SCN9A | c.3925G>T (p.Val1309Phe) c.3769G>T (p.Val1257Phe) c.3892G>T (p.Val1298Phe) n.612-19223C>A c.3538G>T (p.Val1180Phe) c.3181G>T (p.Val1061Phe) | ClinVar dbSNP gnomAD v4 |
| 2 | g.166228972C>T | CA349064822 | SCN1A-AS1,SCN9A | c.3925G>A (p.Val1309Ile) c.3769G>A (p.Val1257Ile) c.3892G>A (p.Val1298Ile) n.612-19223C>T c.3538G>A (p.Val1180Ile) c.3181G>A (p.Val1061Ile) | dbSNP gnomAD v4 |
| 2 | g.166228972C= | CA1304943725 | SCN1A-AS1,SCN9A | c.3925G= (p.Val1309=) c.3769G= (p.Val1257=) c.3892G= (p.Val1298=) n.612-19223C= c.3538G= (p.Val1180=) c.3181G= (p.Val1061=) | dbSNP |