| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108668435G>A | CA413848924 | COL4A5 | c.3721G>A (p.Gly1241Ser) c.3397G>A (p.Gly1133Ser) c.1294G>A (p.Gly432Ser) c.3736G>A (p.Gly1246Ser) c.2056G>A (p.Gly686Ser) | ClinVar dbSNP |
| X | g.108668435G>T | CA258942 | COL4A5 | c.3721G>T (p.Gly1241Cys) c.3397G>T (p.Gly1133Cys) c.1294G>T (p.Gly432Cys) c.3736G>T (p.Gly1246Cys) c.2056G>T (p.Gly686Cys) | ClinVar dbSNP |