| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11974738C>T | CA598677 | PLOD1 | c.2114C>T (p.Thr705Met) n.1541C>T n.384-545C>T c.2255C>T (p.Thr752Met) c.2195C>T (p.Thr732Met) c.1448C>T (p.Thr483Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.11974738C= | CA1144190771 | PLOD1 | c.2114C= (p.Thr705=) n.1541C= n.384-545C= c.2255C= (p.Thr752=) c.2195C= (p.Thr732=) c.1448C= (p.Thr483=) | dbSNP |