| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165097377T>C | CA1938645 | SCN3A | c.4063A>G (p.Met1355Val) c.4114A>G (p.Met1372Val) c.*1955A>G (n.*1955A>G) c.*848A>G (n.*848A>G) c.2323A>G (n.2323A>G) c.3967A>G (p.Met1323Val) n.238A>G c.2224A>G (p.Met742Val) c.3976A>G (p.Met1326Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.165097377T= | CA1304438448 | SCN3A | c.4063A= (p.Met1355=) c.4114A= (p.Met1372=) c.*1955A= (n.*1955A=) c.*848A= (n.*848A=) c.2323A= (n.2323A=) c.3967A= (p.Met1323=) n.238A= c.2224A= (p.Met742=) c.3976A= (p.Met1326=) | dbSNP |