| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108584494G>A | CA413928933 | COL4A5 | c.1001G>A (p.Gly334Asp) n.457G>A c.677G>A (p.Gly226Asp) c.1016G>A (p.Gly339Asp) c.-709G>A (n.-709G>A) | ClinVar dbSNP |
| X | g.108584494G>T | CA258385 | COL4A5 | c.1001G>T (p.Gly334Val) n.457G>T c.677G>T (p.Gly226Val) c.1016G>T (p.Gly339Val) c.-709G>T (n.-709G>T) | ClinVar dbSNP |