| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108614947G>T | CA258685 | COL4A5 | c.2432G>T (p.Gly811Val) n.1888G>T c.2108G>T (p.Gly703Val) c.5G>T (p.Gly2Val) c.2447G>T (p.Gly816Val) c.767G>T (p.Gly256Val) | ClinVar dbSNP |
| X | g.108614947G= | CA2450694136 | COL4A5 | c.2432G= (p.Gly811=) n.1888G= c.2108G= (p.Gly703=) c.5G= (p.Gly2=) c.2447G= (p.Gly816=) c.767G= (p.Gly256=) | dbSNP |