| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.77574326A>G | CA256028 | ATRX | c.6250T>C (p.Tyr2084His) n.85T>C c.1348T>C (p.Tyr450His) c.6136T>C (p.Tyr2046His) c.*5878T>C (n.*5878T>C) c.734T>C n.3320T>C c.6247T>C (p.Tyr2083His) c.6163T>C (p.Tyr2055His) c.6133T>C (p.Tyr2045His) c.6085T>C (p.Tyr2029His) c.6046T>C (p.Tyr2016His) c.5971T>C (p.Tyr1991His) n.6592T>C c.6160T>C (p.Tyr2054His) c.6130T>C (p.Tyr2044His) c.6082T>C (p.Tyr2028His) c.6049T>C (p.Tyr2017His) c.6019T>C (p.Tyr2007His) c.6016T>C (p.Tyr2006His) c.5968T>C (p.Tyr1990His) c.5932T>C (p.Tyr1978His) c.5929T>C (p.Tyr1977His) c.5884T>C (p.Tyr1962His) n.6549T>C | ClinVar dbSNP |
| X | g.77574326A= | CA2438951401 | ATRX | c.6250T= (p.Tyr2084=) n.85T= c.1348T= (p.Tyr450=) c.6136T= (p.Tyr2046=) c.*5878T= (n.*5878T=) c.734T= n.3320T= c.6247T= (p.Tyr2083=) c.6163T= (p.Tyr2055=) c.6133T= (p.Tyr2045=) c.6085T= (p.Tyr2029=) c.6046T= (p.Tyr2016=) c.5971T= (p.Tyr1991=) n.6592T= c.6160T= (p.Tyr2054=) c.6130T= (p.Tyr2044=) c.6082T= (p.Tyr2028=) c.6049T= (p.Tyr2017=) c.6019T= (p.Tyr2007=) c.6016T= (p.Tyr2006=) c.5968T= (p.Tyr1990=) c.5932T= (p.Tyr1978=) c.5929T= (p.Tyr1977=) c.5884T= (p.Tyr1962=) n.6549T= | dbSNP |