| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108694909T>A | CA259120 | COL4A5 | c.4809T>A (p.Tyr1603Ter) c.4791T>A (p.Tyr1597Ter) n.1303T>A n.1295T>A c.207T>A (p.Tyr69Ter) c.325-1388T>A c.4800T>A (p.Tyr1600Ter) c.4485T>A (p.Tyr1495Ter) c.2382T>A (p.Tyr794Ter) c.4824T>A (p.Tyr1608Ter) c.4815T>A (p.Tyr1605Ter) c.4806T>A (p.Tyr1602Ter) c.3144T>A (p.Tyr1048Ter) | dbSNP |
| X | g.108694909T>G | CA414132597 | COL4A5 | c.4809T>G (p.Tyr1603Ter) c.4791T>G (p.Tyr1597Ter) n.1303T>G n.1295T>G c.207T>G (p.Tyr69Ter) c.325-1388T>G c.4800T>G (p.Tyr1600Ter) c.4485T>G (p.Tyr1495Ter) c.2382T>G (p.Tyr794Ter) c.4824T>G (p.Tyr1608Ter) c.4815T>G (p.Tyr1605Ter) c.4806T>G (p.Tyr1602Ter) c.3144T>G (p.Tyr1048Ter) | ClinVar dbSNP gnomAD v4 |