| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108597461G>C | CA258516 | COL4A5 | c.1672G>C (p.Gly558Arg) n.1128G>C c.1348G>C (p.Gly450Arg) c.1687G>C (p.Gly563Arg) c.7G>C (p.Gly3Arg) | ClinVar dbSNP |
| X | g.108597461G= | CA2450688372 | COL4A5 | c.1672G= (p.Gly558=) n.1128G= c.1348G= (p.Gly450=) c.1687G= (p.Gly563=) c.7G= (p.Gly3=) | dbSNP |