| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38894945G>T | CA352175178 | SCN11A | c.2423C>A (p.Ala808Asp) c.2243C>A (p.Ala748Asp) c.2467C>A (n.2467C>A) c.2042C>A (p.Ala681Asp) c.1760C>A (p.Ala587Asp) c.971C>A (p.Ala324Asp) c.2798C>A (p.Ala933Asp) c.2225C>A (p.Ala742Asp) c.2150C>A (p.Ala717Asp) c.827C>A (p.Ala276Asp) | ClinVar dbSNP |
| 3 | g.38894945G>C | CA145435 | SCN11A | c.2423C>G (p.Ala808Gly) c.2243C>G (p.Ala748Gly) c.2467C>G (n.2467C>G) c.2042C>G (p.Ala681Gly) c.1760C>G (p.Ala587Gly) c.971C>G (p.Ala324Gly) c.2798C>G (p.Ala933Gly) c.2225C>G (p.Ala742Gly) c.2150C>G (p.Ala717Gly) c.827C>G (p.Ala276Gly) | ClinVar dbSNP |