| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.157206470A>C | CA366246610 | ARID1B | c.5539A>C (p.Lys1847Gln) c.5608A>C (p.Lys1870Gln) c.5827A>C (p.Lys1943Gln) c.5578A>C (p.Lys1860Gln) c.5290A>C (p.Lys1764Gln) c.3856A>C (p.Lys1286Gln) c.3019A>C (p.Lys1007Gln) c.2650A>C (p.Lys884Gln) n.4161A>C n.1618A>C c.5698A>C (p.Lys1900Gln) n.3695A>C c.3066A>C c.2980A>C n.2364A>C c.3040A>C (p.Lys1014Gln) c.3199A>C (p.Lys1067Gln) n.2813A>C c.5329A>C (p.Lys1777Gln) c.5449A>C (p.Lys1817Gln) c.4528A>C (p.Lys1510Gln) c.4348A>C (p.Lys1450Gln) c.4108A>C (p.Lys1370Gln) c.3727A>C (p.Lys1243Gln) c.2590A>C (p.Lys864Gln) c.5659A>C (p.Lys1887Gln) c.5560A>C (p.Lys1854Gln) c.5530A>C (p.Lys1844Gln) c.5500A>C (p.Lys1834Gln) c.5371A>C (p.Lys1791Gln) c.5350A>C (p.Lys1784Gln) n.5645A>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.157206470A>T | CA129768 | ARID1B | c.5539A>T (p.Lys1847Ter) c.5608A>T (p.Lys1870Ter) c.5827A>T (p.Lys1943Ter) c.5578A>T (p.Lys1860Ter) c.5290A>T (p.Lys1764Ter) c.3856A>T (p.Lys1286Ter) c.3019A>T (p.Lys1007Ter) c.2650A>T (p.Lys884Ter) n.4161A>T n.1618A>T c.5698A>T (p.Lys1900Ter) n.3695A>T c.3066A>T c.2980A>T n.2364A>T c.3040A>T (p.Lys1014Ter) c.3199A>T (p.Lys1067Ter) n.2813A>T c.5329A>T (p.Lys1777Ter) c.5449A>T (p.Lys1817Ter) c.4528A>T (p.Lys1510Ter) c.4348A>T (p.Lys1450Ter) c.4108A>T (p.Lys1370Ter) c.3727A>T (p.Lys1243Ter) c.2590A>T (p.Lys864Ter) c.5659A>T (p.Lys1887Ter) c.5560A>T (p.Lys1854Ter) c.5530A>T (p.Lys1844Ter) c.5500A>T (p.Lys1834Ter) c.5371A>T (p.Lys1791Ter) c.5350A>T (p.Lys1784Ter) n.5645A>T | ClinVar dbSNP |