| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.77633682A>C | CA413704709 | ATRX | c.4840T>G (p.Cys1614Gly) c.-63T>G (n.-63T>G) n.575T>G c.4726T>G (p.Cys1576Gly) c.*4468T>G (n.*4468T>G) c.577T>G n.184T>G c.4837T>G (p.Cys1613Gly) c.4753T>G (p.Cys1585Gly) c.4723T>G (p.Cys1575Gly) c.4675T>G (p.Cys1559Gly) c.4636T>G (p.Cys1546Gly) c.4561T>G (p.Cys1521Gly) n.5108T>G c.4750T>G (p.Cys1584Gly) c.4720T>G (p.Cys1574Gly) c.4672T>G (p.Cys1558Gly) c.4639T>G (p.Cys1547Gly) c.4609T>G (p.Cys1537Gly) c.4606T>G (p.Cys1536Gly) c.4558T>G (p.Cys1520Gly) c.4522T>G (p.Cys1508Gly) c.4519T>G (p.Cys1507Gly) c.4474T>G (p.Cys1492Gly) n.5065T>G | dbSNP |
| X | g.77633682A>T | CA413704707 | ATRX | c.4840T>A (p.Cys1614Ser) c.-63T>A (n.-63T>A) n.575T>A c.4726T>A (p.Cys1576Ser) c.*4468T>A (n.*4468T>A) c.577T>A n.184T>A c.4837T>A (p.Cys1613Ser) c.4753T>A (p.Cys1585Ser) c.4723T>A (p.Cys1575Ser) c.4675T>A (p.Cys1559Ser) c.4636T>A (p.Cys1546Ser) c.4561T>A (p.Cys1521Ser) n.5108T>A c.4750T>A (p.Cys1584Ser) c.4720T>A (p.Cys1574Ser) c.4672T>A (p.Cys1558Ser) c.4639T>A (p.Cys1547Ser) c.4609T>A (p.Cys1537Ser) c.4606T>A (p.Cys1536Ser) c.4558T>A (p.Cys1520Ser) c.4522T>A (p.Cys1508Ser) c.4519T>A (p.Cys1507Ser) c.4474T>A (p.Cys1492Ser) n.5065T>A | dbSNP |
| X | g.77633682A>G | CA256019 | ATRX | c.4840T>C (p.Cys1614Arg) c.-63T>C (n.-63T>C) n.575T>C c.4726T>C (p.Cys1576Arg) c.*4468T>C (n.*4468T>C) c.577T>C n.184T>C c.4837T>C (p.Cys1613Arg) c.4753T>C (p.Cys1585Arg) c.4723T>C (p.Cys1575Arg) c.4675T>C (p.Cys1559Arg) c.4636T>C (p.Cys1546Arg) c.4561T>C (p.Cys1521Arg) n.5108T>C c.4750T>C (p.Cys1584Arg) c.4720T>C (p.Cys1574Arg) c.4672T>C (p.Cys1558Arg) c.4639T>C (p.Cys1547Arg) c.4609T>C (p.Cys1537Arg) c.4606T>C (p.Cys1536Arg) c.4558T>C (p.Cys1520Arg) c.4522T>C (p.Cys1508Arg) c.4519T>C (p.Cys1507Arg) c.4474T>C (p.Cys1492Arg) n.5065T>C | ClinVar dbSNP |