| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108614979G>C | CA258687 | COL4A5 | c.2464G>C (p.Gly822Arg) n.1920G>C c.2140G>C (p.Gly714Arg) c.37G>C (p.Gly13Arg) c.2479G>C (p.Gly827Arg) c.799G>C (p.Gly267Arg) | dbSNP |
| X | g.108614979G>A | CA413850012 | COL4A5 | c.2464G>A (p.Gly822Arg) n.1920G>A c.2140G>A (p.Gly714Arg) c.37G>A (p.Gly13Arg) c.2479G>A (p.Gly827Arg) c.799G>A (p.Gly267Arg) | ClinVar dbSNP |