| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108577980G>A | CA258296 | COL4A5 | c.638G>A (p.Gly213Glu) c.314G>A (p.Gly105Glu) c.653G>A (p.Gly218Glu) | ClinVar dbSNP |
| X | g.108577980G>T | CA413923235 | COL4A5 | c.638G>T (p.Gly213Val) c.314G>T (p.Gly105Val) c.653G>T (p.Gly218Val) | ClinVar dbSNP |
| X | g.108577980G= | CA2450682177 | COL4A5 | c.638G= (p.Gly213=) c.314G= (p.Gly105=) c.653G= (p.Gly218=) | dbSNP |