| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.134834960T>C | CA290310 | COL5A1 | c.5137-11T>C (n.5137-11T>C) c.395-11T>C n.71-14751A>G n.5821-11T>C n.5689-11T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134834960T>A | CA281067 | COL5A1 | c.5137-11T>A (n.5137-11T>A) c.395-11T>A n.71-14751A>T n.5821-11T>A n.5689-11T>A | ClinVar dbSNP |