| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109581444dup | CA149830 | MVK | c.-92+7571dup (n.-92+7571dup) c.421dup (p.Ala141GlyfsTer?) n.79-4578dup c.*185dup (n.*185dup) c.65-4578dup c.269dup c.371+1498dup (n.371+1498dup) c.227-4578dup (n.227-4578dup) n.472-4578dup | ClinVar dbSNP gnomAD v4 |
| 12 | g.109581444del | CA149829 | MVK | c.-92+7571del (n.-92+7571del) c.421del (p.Ala141ArgfsTer18) n.79-4578del c.*185del (n.*185del) c.65-4578del c.269del c.371+1498del (n.371+1498del) c.227-4578del (n.227-4578del) n.472-4578del | ClinVar dbSNP gnomAD v3 gnomAD v4 |