| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.35033599A>T | CA16044237 | SCN1B | c.308A>T (p.Asp103Val) c.209A>T (p.Asp70Val) c.208-113A>T (n.208-113A>T) n.317A>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.35033599A>G | CA405328749 | SCN1B | c.308A>G (p.Asp103Gly) c.209A>G (p.Asp70Gly) c.208-113A>G (n.208-113A>G) n.317A>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35033599A= | CA2333467013 | SCN1B | c.308A= (p.Asp103=) c.209A= (p.Asp70=) c.208-113A= (n.208-113A=) n.317A= | dbSNP |