| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.189043231C>A | CA2022005 | COL5A2 | c.3391G>T (p.Gly1131Cys) c.2230G>T (p.Gly744Cys) c.3253G>T (p.Gly1085Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.189043231C>T | CA325060 | COL5A2 | c.3391G>A (p.Gly1131Ser) c.2230G>A (p.Gly744Ser) c.3253G>A (p.Gly1085Ser) | ClinVar dbSNP COSMIC |
| 2 | g.189043231C= | CA1315416320 | COL5A2 | c.3391G= (p.Gly1131=) c.2230G= (p.Gly744=) c.3253G= (p.Gly1085=) | dbSNP |