| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189050640C>T | CA16617397 | COL5A2 | c.2968G>A (p.Gly990Arg) c.1807G>A (p.Gly603Arg) c.2830G>A (p.Gly944Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.189050640C= | CA1315425043 | COL5A2 | c.2968G= (p.Gly990=) c.1807G= (p.Gly603=) c.2830G= (p.Gly944=) | dbSNP |