| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109581440del | CA481713633 | MVK | c.-92+7567del (n.-92+7567del) c.417del (p.Ala141ArgfsTer18) n.79-4582del c.*181del (n.*181del) c.65-4582del c.265del c.371+1494del (n.371+1494del) c.227-4582del (n.227-4582del) n.472-4582del | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.109581440dup | CA130492 | MVK | c.-92+7567dup (n.-92+7567dup) c.417dup (p.Gly140ArgfsTer?) n.79-4582dup c.*181dup (n.*181dup) c.65-4582dup c.265dup c.371+1494dup (n.371+1494dup) c.227-4582dup (n.227-4582dup) n.472-4582dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |