| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38925454G>A | CA145434 | SCN11A | c.673C>T (p.Arg225Cys) c.717C>T (n.717C>T) c.92C>T (p.Pro31Leu) c.1048C>T (p.Arg350Cys) c.400C>T (p.Arg134Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38925454G= | CA1358731585 | SCN11A | c.673C= (p.Arg225=) c.717C= (n.717C=) c.92C= (p.Pro31=) c.1048C= (p.Arg350=) c.400C= (p.Arg134=) | dbSNP |