| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227007475G>T | CA257922 | COL4A4 | c.525C>A (p.Cys175Ter) c.4923C>A (p.Cys1641Ter) c.4368C>A (p.Cys1456Ter) c.4734C>A (p.Cys1578Ter) c.4809+543C>A (n.4809+543C>A) c.4216+14573C>A (n.4216+14573C>A) c.4842C>A (p.Cys1614Ter) c.4815C>A (p.Cys1605Ter) c.*685C>A (n.*685C>A) c.3249C>A (p.Cys1083Ter) n.5119+543C>A n.4526+14573C>A c.*372C>A (n.*372C>A) c.4806C>A (p.Cys1602Ter) n.5135+543C>A n.4995C>A n.4542+14573C>A | ClinVar dbSNP gnomAD v4 |
| 2 | g.227007475G= | CA1332723609 | COL4A4 | c.525C= (p.Cys175=) c.4923C= (p.Cys1641=) c.4368C= (p.Cys1456=) c.4734C= (p.Cys1578=) c.4809+543C= (n.4809+543C=) c.4216+14573C= (n.4216+14573C=) c.4842C= (p.Cys1614=) c.4815C= (p.Cys1605=) c.*685C= (n.*685C=) c.3249C= (p.Cys1083=) n.5119+543C= n.4526+14573C= c.*372C= (n.*372C=) c.4806C= (p.Cys1602=) n.5135+543C= n.4995C= n.4542+14573C= | dbSNP |