| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108655395G>A | CA413857427 | COL4A5 | c.3311G>A (p.Gly1104Asp) c.2987G>A (p.Gly996Asp) c.884G>A (p.Gly295Asp) c.3326G>A (p.Gly1109Asp) c.1646G>A (p.Gly549Asp) | ClinVar dbSNP |
| X | g.108655395G>T | CA258852 | COL4A5 | c.3311G>T (p.Gly1104Val) c.2987G>T (p.Gly996Val) c.884G>T (p.Gly295Val) c.3326G>T (p.Gly1109Val) c.1646G>T (p.Gly549Val) | dbSNP |