| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108686112G>A | CA334058397 | COL4A5 | c.4298G>A (p.Gly1433Asp) c.4280G>A (p.Gly1427Asp) n.792G>A n.701G>A c.94G>A c.4289G>A (p.Gly1430Asp) c.3974G>A (p.Gly1325Asp) c.1871G>A (p.Gly624Asp) c.4313G>A (p.Gly1438Asp) c.4304G>A (p.Gly1435Asp) c.4295G>A (p.Gly1432Asp) c.2633G>A (p.Gly878Asp) | dbSNP |
| X | g.108686112G>T | CA259019 | COL4A5 | c.4298G>T (p.Gly1433Val) c.4280G>T (p.Gly1427Val) n.792G>T n.701G>T c.94G>T c.4289G>T (p.Gly1430Val) c.3974G>T (p.Gly1325Val) c.1871G>T (p.Gly624Val) c.4313G>T (p.Gly1438Val) c.4304G>T (p.Gly1435Val) c.4295G>T (p.Gly1432Val) c.2633G>T (p.Gly878Val) | dbSNP |
| X | g.108686112G>C | CA261096 | COL4A5 | c.4298G>C (p.Gly1433Ala) c.4280G>C (p.Gly1427Ala) n.792G>C n.701G>C c.94G>C c.4289G>C (p.Gly1430Ala) c.3974G>C (p.Gly1325Ala) c.1871G>C (p.Gly624Ala) c.4313G>C (p.Gly1438Ala) c.4304G>C (p.Gly1435Ala) c.4295G>C (p.Gly1432Ala) c.2633G>C (p.Gly878Ala) | dbSNP |