| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108687509G>C | CA259035 | COL4A5 | c.4343G>C (p.Gly1448Ala) c.4325G>C (p.Gly1442Ala) n.837G>C c.139G>C c.4334G>C (p.Gly1445Ala) c.4019G>C (p.Gly1340Ala) c.1916G>C (p.Gly639Ala) c.4358G>C (p.Gly1453Ala) c.4349G>C (p.Gly1450Ala) c.4340G>C (p.Gly1447Ala) c.2678G>C (p.Gly893Ala) | dbSNP |
| X | g.108687509G>A | CA259038 | COL4A5 | c.4343G>A (p.Gly1448Asp) c.4325G>A (p.Gly1442Asp) n.837G>A c.139G>A c.4334G>A (p.Gly1445Asp) c.4019G>A (p.Gly1340Asp) c.1916G>A (p.Gly639Asp) c.4358G>A (p.Gly1453Asp) c.4349G>A (p.Gly1450Asp) c.4340G>A (p.Gly1447Asp) c.2678G>A (p.Gly893Asp) | dbSNP |