| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.77684030A>G | CA121655 | ATRX | c.1226T>C (p.Leu409Ser) c.1112T>C (p.Leu371Ser) c.*854T>C (n.*854T>C) c.1061T>C (p.Leu354Ser) c.1109T>C (p.Leu370Ser) c.1223T>C (p.Leu408Ser) c.947T>C (p.Leu316Ser) n.1494T>C c.1106T>C (p.Leu369Ser) c.1058T>C (p.Leu353Ser) c.995T>C (p.Leu332Ser) c.992T>C (p.Leu331Ser) c.944T>C (p.Leu315Ser) n.1451T>C | ClinVar dbSNP |
| X | g.77684030A>T | CA413719006 | ATRX | c.1226T>A (p.Leu409Ter) c.1112T>A (p.Leu371Ter) c.*854T>A (n.*854T>A) c.1061T>A (p.Leu354Ter) c.1109T>A (p.Leu370Ter) c.1223T>A (p.Leu408Ter) c.947T>A (p.Leu316Ter) n.1494T>A c.1106T>A (p.Leu369Ter) c.1058T>A (p.Leu353Ter) c.995T>A (p.Leu332Ter) c.992T>A (p.Leu331Ter) c.944T>A (p.Leu315Ter) n.1451T>A | dbSNP COSMIC COSMIC |