| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108687508G>C | CA259027 | COL4A5 | c.4342G>C (p.Gly1448Arg) c.4324G>C (p.Gly1442Arg) n.836G>C c.138G>C c.4333G>C (p.Gly1445Arg) c.4018G>C (p.Gly1340Arg) c.1915G>C (p.Gly639Arg) c.4357G>C (p.Gly1453Arg) c.4348G>C (p.Gly1450Arg) c.4339G>C (p.Gly1447Arg) c.2677G>C (p.Gly893Arg) | ClinVar dbSNP |
| X | g.108687508G= | CA2450719220 | COL4A5 | c.4342G= (p.Gly1448=) c.4324G= (p.Gly1442=) n.836G= c.138G= c.4333G= (p.Gly1445=) c.4018G= (p.Gly1340=) c.1915G= (p.Gly639=) c.4357G= (p.Gly1453=) c.4348G= (p.Gly1450=) c.4339G= (p.Gly1447=) c.2677G= (p.Gly893=) | dbSNP |
| X | g.108687508G>T | CA413853986 | COL4A5 | c.4342G>T (p.Gly1448Cys) c.4324G>T (p.Gly1442Cys) n.836G>T c.138G>T c.4333G>T (p.Gly1445Cys) c.4018G>T (p.Gly1340Cys) c.1915G>T (p.Gly639Cys) c.4357G>T (p.Gly1453Cys) c.4348G>T (p.Gly1450Cys) c.4339G>T (p.Gly1447Cys) c.2677G>T (p.Gly893Cys) | ClinVar dbSNP |