| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.134817831G>C | CA320638 | COL5A1 | c.4230G>C (p.Lys1410Asn) n.4632G>C n.4628G>C | ClinVar dbSNP |
| 9 | g.134817831G>A | CA467664009 | COL5A1 | c.4230G>A (p.Lys1410=) n.4632G>A n.4628G>A | dbSNP |
| 9 | g.134817831G= | CA1883367883 | COL5A1 | c.4230G= (p.Lys1410=) n.4632G= n.4628G= | dbSNP |