| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.96191189G>T | CA340498 | SLC25A13 | c.674C>A (p.Ser225Ter) n.749C>A c.707C>A (p.Ser236Ter) c.-85C>A (n.-85C>A) c.665C>A (p.Ser222Ter) n.845C>A n.987C>A n.700C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.96191189G>A | CA4353197 | SLC25A13 | c.674C>T (p.Ser225Leu) n.749C>T c.707C>T (p.Ser236Leu) c.-85C>T (n.-85C>T) c.665C>T (p.Ser222Leu) n.845C>T n.987C>T n.700C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |