| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133352516C>T | CA16605403 | SURF1 | c.681G>A (p.Trp227Ter) n.591G>A n.671G>A c.354G>A (p.Trp118Ter) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133352516C= | CA1882634157 | SURF1 | c.681G= (p.Trp227=) n.591G= n.671G= c.354G= (p.Trp118=) | dbSNP |