| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.77558685T>A | CA413699002 | ATRX | c.6488A>T (p.Tyr2163Phe) c.1586A>T (p.Tyr529Phe) c.6374A>T (p.Tyr2125Phe) c.*6116A>T (n.*6116A>T) n.3558A>T c.6485A>T (p.Tyr2162Phe) c.6401A>T (p.Tyr2134Phe) c.6371A>T (p.Tyr2124Phe) c.6323A>T (p.Tyr2108Phe) c.6284A>T (p.Tyr2095Phe) c.6209A>T (p.Tyr2070Phe) n.6830A>T c.6398A>T (p.Tyr2133Phe) c.6368A>T (p.Tyr2123Phe) c.6320A>T (p.Tyr2107Phe) c.6287A>T (p.Tyr2096Phe) c.6257A>T (p.Tyr2086Phe) c.6254A>T (p.Tyr2085Phe) c.6206A>T (p.Tyr2069Phe) c.6170A>T (p.Tyr2057Phe) c.6167A>T (p.Tyr2056Phe) c.6122A>T (p.Tyr2041Phe) n.6787A>T | dbSNP |
| X | g.77558685T>C | CA256031 | ATRX | c.6488A>G (p.Tyr2163Cys) c.1586A>G (p.Tyr529Cys) c.6374A>G (p.Tyr2125Cys) c.*6116A>G (n.*6116A>G) n.3558A>G c.6485A>G (p.Tyr2162Cys) c.6401A>G (p.Tyr2134Cys) c.6371A>G (p.Tyr2124Cys) c.6323A>G (p.Tyr2108Cys) c.6284A>G (p.Tyr2095Cys) c.6209A>G (p.Tyr2070Cys) n.6830A>G c.6398A>G (p.Tyr2133Cys) c.6368A>G (p.Tyr2123Cys) c.6320A>G (p.Tyr2107Cys) c.6287A>G (p.Tyr2096Cys) c.6257A>G (p.Tyr2086Cys) c.6254A>G (p.Tyr2085Cys) c.6206A>G (p.Tyr2069Cys) c.6170A>G (p.Tyr2057Cys) c.6167A>G (p.Tyr2056Cys) c.6122A>G (p.Tyr2041Cys) n.6787A>G | ClinVar dbSNP |