| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108696352T>G | CA414133143 | COL4A5 | c.5050T>G (p.Cys1684Gly) c.5032T>G (p.Cys1678Gly) n.1544T>G n.2738T>G c.275T>G (n.275T>G) c.380T>G c.5041T>G (p.Cys1681Gly) c.4726T>G (p.Cys1576Gly) c.2623T>G (p.Cys875Gly) c.5065T>G (p.Cys1689Gly) c.5056T>G (p.Cys1686Gly) c.5047T>G (p.Cys1683Gly) c.3385T>G (p.Cys1129Gly) | ClinVar dbSNP |
| X | g.108696352T>C | CA259153 | COL4A5 | c.5050T>C (p.Cys1684Arg) c.5032T>C (p.Cys1678Arg) n.1544T>C n.2738T>C c.275T>C (n.275T>C) c.380T>C c.5041T>C (p.Cys1681Arg) c.4726T>C (p.Cys1576Arg) c.2623T>C (p.Cys875Arg) c.5065T>C (p.Cys1689Arg) c.5056T>C (p.Cys1686Arg) c.5047T>C (p.Cys1683Arg) c.3385T>C (p.Cys1129Arg) | dbSNP |