| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227059468C>G | CA067692 | COL4A4 | c.2320G>C (p.Gly774Arg) c.1765G>C (p.Gly589Arg) c.2212G>C (p.Gly738Arg) c.646G>C (p.Gly216Arg) n.2630G>C n.2646G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.227059468C>T | CA350841928 | COL4A4 | c.2320G>A (p.Gly774Ser) c.1765G>A (p.Gly589Ser) c.2212G>A (p.Gly738Ser) c.646G>A (p.Gly216Ser) n.2630G>A n.2646G>A | ClinVar dbSNP gnomAD v4 |
| 2 | g.227059468C= | CA1332747868 | COL4A4 | c.2320G= (p.Gly774=) c.1765G= (p.Gly589=) c.2212G= (p.Gly738=) c.646G= (p.Gly216=) n.2630G= n.2646G= | dbSNP |