| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11974656G>A | CA281010 | PLOD1 | c.2032G>A (p.Gly678Arg) n.1459G>A n.384-627G>A c.2173G>A (p.Gly725Arg) c.2113G>A (p.Gly705Arg) c.1366G>A (p.Gly456Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.11974656G= | CA1141580592 | PLOD1 | c.2032G= (p.Gly678=) n.1459G= n.384-627G= c.2173G= (p.Gly725=) c.2113G= (p.Gly705=) c.1366G= (p.Gly456=) | dbSNP |