| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189066772C>G | CA2022712 | COL5A2 | c.1412G>C (p.Gly471Ala) c.359-339G>C (n.359-339G>C) c.1274G>C (p.Gly425Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189066772C= | CA1315432016 | COL5A2 | c.1412G= (p.Gly471=) c.359-339G= (n.359-339G=) c.1274G= (p.Gly425=) | dbSNP |