| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189066461C>T | CA322472 | COL5A2 | c.1492G>A (p.Gly498Ser) c.359-28G>A (n.359-28G>A) c.1354G>A (p.Gly452Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189066461C= | CA1315431882 | COL5A2 | c.1492G= (p.Gly498=) c.359-28G= (n.359-28G=) c.1354G= (p.Gly452=) | dbSNP |