| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.157198835T>C | CA4067623 | ARID1B | c.4248T>C (p.Tyr1416=) c.4317T>C (p.Tyr1439=) c.4536T>C (p.Tyr1512=) c.4287T>C (p.Tyr1429=) c.3999T>C (p.Tyr1333=) c.2565T>C (p.Tyr855=) c.1728T>C (p.Tyr576=) c.1359T>C (p.Tyr453=) n.2870T>C n.327T>C c.4407T>C (p.Tyr1469=) n.2404T>C c.1775T>C c.1689T>C n.1073T>C c.1749T>C (p.Tyr583=) c.1908T>C (p.Tyr636=) c.4038T>C (p.Tyr1346=) c.4158T>C (p.Tyr1386=) c.3237T>C (p.Tyr1079=) c.3057T>C (p.Tyr1019=) c.2817T>C (p.Tyr939=) c.2436T>C (p.Tyr812=) c.1299T>C (p.Tyr433=) c.4368T>C (p.Tyr1456=) c.4269T>C (p.Tyr1423=) c.4239T>C (p.Tyr1413=) c.4209T>C (p.Tyr1403=) c.4080T>C (p.Tyr1360=) c.4059T>C (p.Tyr1353=) n.4427-1870T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.157198835T>A | CA10575558 | ARID1B | c.4248T>A (p.Tyr1416Ter) c.4317T>A (p.Tyr1439Ter) c.4536T>A (p.Tyr1512Ter) c.4287T>A (p.Tyr1429Ter) c.3999T>A (p.Tyr1333Ter) c.2565T>A (p.Tyr855Ter) c.1728T>A (p.Tyr576Ter) c.1359T>A (p.Tyr453Ter) n.2870T>A n.327T>A c.4407T>A (p.Tyr1469Ter) n.2404T>A c.1775T>A c.1689T>A n.1073T>A c.1749T>A (p.Tyr583Ter) c.1908T>A (p.Tyr636Ter) c.4038T>A (p.Tyr1346Ter) c.4158T>A (p.Tyr1386Ter) c.3237T>A (p.Tyr1079Ter) c.3057T>A (p.Tyr1019Ter) c.2817T>A (p.Tyr939Ter) c.2436T>A (p.Tyr812Ter) c.1299T>A (p.Tyr433Ter) c.4368T>A (p.Tyr1456Ter) c.4269T>A (p.Tyr1423Ter) c.4239T>A (p.Tyr1413Ter) c.4209T>A (p.Tyr1403Ter) c.4080T>A (p.Tyr1360Ter) c.4059T>A (p.Tyr1353Ter) n.4427-1870T>A | ClinVar dbSNP |