| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108668382G>T | CA258925 | COL4A5 | c.3668G>T (p.Gly1223Val) c.3344G>T (p.Gly1115Val) c.1241G>T (p.Gly414Val) c.3683G>T (p.Gly1228Val) c.2003G>T (p.Gly668Val) | dbSNP |
| X | g.108668382G>A | CA413848611 | COL4A5 | c.3668G>A (p.Gly1223Asp) c.3344G>A (p.Gly1115Asp) c.1241G>A (p.Gly414Asp) c.3683G>A (p.Gly1228Asp) c.2003G>A (p.Gly668Asp) | ClinVar dbSNP |