| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11950456del | CA10606121 | PLOD1 | c.402del (p.Asp135ThrfsTer?) n.448del c.543del (p.Asp182ThrfsTer?) n.445del c.483del (p.Asp162ThrfsTer?) c.-265del (n.-265del) | ClinVar dbSNP gnomAD v4 |
| 1 | g.11950456A= | CA3071758673 | PLOD1 | c.402A= (p.Pro134=) n.448A= c.543A= (p.Pro181=) n.445A= c.483A= (p.Pro161=) c.-265A= (n.-265A=) | dbSNP |