| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189043249C>T | CA2022009 | COL5A2 | c.3373G>A (p.Gly1125Arg) c.2212G>A (p.Gly738Arg) c.3235G>A (p.Gly1079Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.189043249C>G | CA349861090 | COL5A2 | c.3373G>C (p.Gly1125Arg) c.2212G>C (p.Gly738Arg) c.3235G>C (p.Gly1079Arg) | ClinVar dbSNP |