| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108692851G>A | CA259074 | COL4A5 | c.4632G>A (p.Trp1544Ter) c.4614G>A (p.Trp1538Ter) n.1126G>A c.30G>A (p.Trp10Ter) c.325-3446G>A c.4623G>A (p.Trp1541Ter) c.4308G>A (p.Trp1436Ter) c.2205G>A (p.Trp735Ter) c.4647G>A (p.Trp1549Ter) c.4638G>A (p.Trp1546Ter) c.4629G>A (p.Trp1543Ter) c.2967G>A (p.Trp989Ter) | dbSNP |
| X | g.108692851G>C | CA413855635 | COL4A5 | c.4632G>C (p.Trp1544Cys) c.4614G>C (p.Trp1538Cys) n.1126G>C c.30G>C (p.Trp10Cys) c.325-3446G>C c.4623G>C (p.Trp1541Cys) c.4308G>C (p.Trp1436Cys) c.2205G>C (p.Trp735Cys) c.4647G>C (p.Trp1549Cys) c.4638G>C (p.Trp1546Cys) c.4629G>C (p.Trp1543Cys) c.2967G>C (p.Trp989Cys) | ClinVar dbSNP |