| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.123319754C>T | CA342901 | ADCY5 | c.853G>A (p.Ala285Thr) c.1141G>A (p.Ala381Thr) c.2176G>A (p.Ala726Thr) n.435G>A c.1126G>A (p.Ala376Thr) c.1075G>A (p.Ala359Thr) c.1177G>A (p.Ala393Thr) c.1087G>A (p.Ala363Thr) c.1078G>A (p.Ala360Thr) | ClinVar dbSNP |
| 3 | g.123319754C= | CA1398343563 | ADCY5 | c.853G= (p.Ala285=) c.1141G= (p.Ala381=) c.2176G= (p.Ala726=) n.435G= c.1126G= (p.Ala376=) c.1075G= (p.Ala359=) c.1177G= (p.Ala393=) c.1087G= (p.Ala363=) c.1078G= (p.Ala360=) | dbSNP |