| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.27161130G>C | CA115572 | MASTL | c.501G>C (p.Glu167Asp) n.576G>C n.1104G>C c.354G>C (p.Glu118Asp) c.18G>C (p.Glu6Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.27161130G= | CA3173901837 | MASTL | c.501G= (p.Glu167=) n.576G= n.1104G= c.354G= (p.Glu118=) c.18G= (p.Glu6=) | dbSNP |