| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108614946G>A | CA258682 | COL4A5 | c.2431G>A (p.Gly811Arg) n.1887G>A c.2107G>A (p.Gly703Arg) c.4G>A (p.Gly2Arg) c.2446G>A (p.Gly816Arg) c.766G>A (p.Gly256Arg) | ClinVar dbSNP |
| X | g.108614946G= | CA2450694135 | COL4A5 | c.2431G= (p.Gly811=) n.1887G= c.2107G= (p.Gly703=) c.4G= (p.Gly2=) c.2446G= (p.Gly816=) c.766G= (p.Gly256=) | dbSNP |
| X | g.108614946G>T | CA413849875 | COL4A5 | c.2431G>T (p.Gly811Ter) n.1887G>T c.2107G>T (p.Gly703Ter) c.4G>T (p.Gly2Ter) c.2446G>T (p.Gly816Ter) c.766G>T (p.Gly256Ter) | ClinVar dbSNP |