| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.35033607A>G | CA307703640 | SCN1B | c.316A>G (p.Ile106Val) c.217A>G (p.Ile73Val) c.208-105A>G (n.208-105A>G) n.325A>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.35033607A>T | CA405328764 | SCN1B | c.316A>T (p.Ile106Phe) c.217A>T (p.Ile73Phe) c.208-105A>T (n.208-105A>T) n.325A>T | ClinVar dbSNP |
| 19 | g.35033607A= | CA2333467016 | SCN1B | c.316A= (p.Ile106=) c.217A= (p.Ile73=) c.208-105A= (n.208-105A=) n.325A= | dbSNP |