| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108667166G>A | CA258902 | COL4A5 | c.3587G>A (p.Gly1196Glu) c.3263G>A (p.Gly1088Glu) c.1160G>A (p.Gly387Glu) c.3602G>A (p.Gly1201Glu) c.1922G>A (p.Gly641Glu) | ClinVar dbSNP |
| X | g.108667166G>T | CA413848158 | COL4A5 | c.3587G>T (p.Gly1196Val) c.3263G>T (p.Gly1088Val) c.1160G>T (p.Gly387Val) c.3602G>T (p.Gly1201Val) c.1922G>T (p.Gly641Val) | ClinVar dbSNP |