| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165155865C>T | CA1939243 | SCN2A,SCN3A | c.1070G>A (p.Arg357Gln) c.-125+25661C>T (n.-125+25661C>T) c.-393+25661C>T (n.-393+25661C>T) c.-278+25661C>T (n.-278+25661C>T) c.-687G>A (n.-687G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.165155865C= | CA1304463056 | SCN2A,SCN3A | c.1070G= (p.Arg357=) c.-125+25661C= (n.-125+25661C=) c.-393+25661C= (n.-393+25661C=) c.-278+25661C= (n.-278+25661C=) c.-687G= (n.-687G=) | dbSNP |