Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108692850G>C | CA259071 | COL4A5 | c.4631G>C (p.Trp1544Ser) c.4613G>C (p.Trp1538Ser) n.1125G>C c.29G>C (p.Trp10Ser) c.325-3447G>C c.4622G>C (p.Trp1541Ser) c.4307G>C (p.Trp1436Ser) c.2204G>C (p.Trp735Ser) c.4646G>C (p.Trp1549Ser) c.4637G>C (p.Trp1546Ser) c.4628G>C (p.Trp1543Ser) c.2966G>C (p.Trp989Ser) | ClinVar dbSNP |
X | g.108692850G>A | CA334061644 | COL4A5 | c.4631G>A (p.Trp1544Ter) c.4613G>A (p.Trp1538Ter) n.1125G>A c.29G>A (p.Trp10Ter) c.325-3447G>A c.4622G>A (p.Trp1541Ter) c.4307G>A (p.Trp1436Ter) c.2204G>A (p.Trp735Ter) c.4646G>A (p.Trp1549Ter) c.4637G>A (p.Trp1546Ter) c.4628G>A (p.Trp1543Ter) c.2966G>A (p.Trp989Ter) | ClinVar dbSNP |