| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.35033654C>G | CA203839 | SCN1B | c.363C>G (p.Cys121Trp) c.264C>G (p.Cys88Trp) c.208-58C>G (n.208-58C>G) n.372C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35033654C>A | CA405328872 | SCN1B | c.363C>A (p.Cys121Ter) c.264C>A (p.Cys88Ter) c.208-58C>A (n.208-58C>A) n.372C>A | dbSNP |
| 19 | g.35033654C>T | CA307703655 | SCN1B | c.363C>T (p.Cys121=) c.264C>T (p.Cys88=) c.208-58C>T (n.208-58C>T) n.372C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |