| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.96193102G>A | CA342159 | SLC25A13 | c.550C>T (p.Arg184Ter) n.625C>T c.583C>T (p.Arg195Ter) c.541C>T (p.Arg181Ter) c.-209C>T (n.-209C>T) n.721C>T n.863C>T n.576C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.96193102G= | CA1727583742 | SLC25A13 | c.550C= (p.Arg184=) n.625C= c.583C= (p.Arg195=) c.541C= (p.Arg181=) c.-209C= (n.-209C=) n.721C= n.863C= n.576C= | dbSNP |