| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108598748G>T | CA258553 | COL4A5 | c.1826G>T (p.Gly609Val) n.1282G>T c.1502G>T (p.Gly501Val) c.1841G>T (p.Gly614Val) c.161G>T (p.Gly54Val) | dbSNP |
| X | g.108598748G>C | CA413845695 | COL4A5 | c.1826G>C (p.Gly609Ala) n.1282G>C c.1502G>C (p.Gly501Ala) c.1841G>C (p.Gly614Ala) c.161G>C (p.Gly54Ala) | ClinVar dbSNP |