| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.134806229C>T | CA325349 | COL5A1 | c.3299C>T (p.Pro1100Leu) n.3701C>T n.3697C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.134806229C>G | CA375451691 | COL5A1 | c.3299C>G (p.Pro1100Arg) n.3701C>G n.3697C>G | dbSNP gnomAD v4 |
| 9 | g.134806229C= | CA1883381845 | COL5A1 | c.3299C= (p.Pro1100=) n.3701C= n.3697C= | dbSNP |