| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108668327G>A | CA258909 | COL4A5 | c.3613G>A (p.Gly1205Ser) c.3289G>A (p.Gly1097Ser) c.1186G>A (p.Gly396Ser) c.3628G>A (p.Gly1210Ser) c.1948G>A (p.Gly650Ser) | ClinVar dbSNP |
| X | g.108668327G>T | CA258907 | COL4A5 | c.3613G>T (p.Gly1205Cys) c.3289G>T (p.Gly1097Cys) c.1186G>T (p.Gly396Cys) c.3628G>T (p.Gly1210Cys) c.1948G>T (p.Gly650Cys) | dbSNP |
| X | g.108668327G= | CA2450712915 | COL4A5 | c.3613G= (p.Gly1205=) c.3289G= (p.Gly1097=) c.1186G= (p.Gly396=) c.3628G= (p.Gly1210=) c.1948G= (p.Gly650=) | dbSNP |