| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109574894dup | CA145350 | MVK | c.-92+1021dup (n.-92+1021dup) c.72dup (p.Gly25TrpfsTer?) n.72dup c.58dup c.65dup n.317dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109574894T= | CA2062460223 | MVK | c.-92+1021T= (n.-92+1021T=) c.72T= (p.His24=) n.72T= c.58T= c.65T= n.317T= | dbSNP dbSNP |