| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108591118G>A | CA258437 | COL4A5 | c.1226G>A (p.Gly409Asp) n.682G>A c.902G>A (p.Gly301Asp) c.1241G>A (p.Gly414Asp) c.-484G>A (n.-484G>A) | ClinVar dbSNP |
| X | g.108591118G>C | CA413932460 | COL4A5 | c.1226G>C (p.Gly409Ala) n.682G>C c.902G>C (p.Gly301Ala) c.1241G>C (p.Gly414Ala) c.-484G>C (n.-484G>C) | ClinVar dbSNP |
| X | g.108591118G>T | CA413932463 | COL4A5 | c.1226G>T (p.Gly409Val) n.682G>T c.902G>T (p.Gly301Val) c.1241G>T (p.Gly414Val) c.-484G>T (n.-484G>T) | ClinVar dbSNP |