| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227032049G>T | CA257916 | COL4A4 | c.3713C>A (p.Ser1238Ter) c.3158C>A (p.Ser1053Ter) c.3632C>A (p.Ser1211Ter) c.3605C>A (p.Ser1202Ter) c.2039C>A (p.Ser680Ter) n.4023C>A c.3596C>A (p.Ser1199Ter) n.4039C>A | ClinVar dbSNP |
| 2 | g.227032049G>C | CA350837694 | COL4A4 | c.3713C>G (p.Ser1238Ter) c.3158C>G (p.Ser1053Ter) c.3632C>G (p.Ser1211Ter) c.3605C>G (p.Ser1202Ter) c.2039C>G (p.Ser680Ter) n.4023C>G c.3596C>G (p.Ser1199Ter) n.4039C>G | dbSNP |
| 2 | g.227032049G= | CA1332734759 | COL4A4 | c.3713C= (p.Ser1238=) c.3158C= (p.Ser1053=) c.3632C= (p.Ser1211=) c.3605C= (p.Ser1202=) c.2039C= (p.Ser680=) n.4023C= c.3596C= (p.Ser1199=) n.4039C= | dbSNP |