Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.77684516T>C | CA204628 | ATRX | c.740A>G (p.Asn247Ser) c.626A>G (p.Asn209Ser) c.*368A>G (n.*368A>G) c.575A>G (p.Asn192Ser) c.623A>G (p.Asn208Ser) c.555A>G c.737A>G (p.Asn246Ser) c.461A>G (p.Asn154Ser) n.1008A>G c.620A>G (p.Asn207Ser) c.572A>G (p.Asn191Ser) c.509A>G (p.Asn170Ser) c.506A>G (p.Asn169Ser) c.458A>G (p.Asn153Ser) n.965A>G | ClinVar dbSNP COSMIC COSMIC |
X | g.77684516T>A | CA413720770 | ATRX | c.740A>T (p.Asn247Ile) c.626A>T (p.Asn209Ile) c.*368A>T (n.*368A>T) c.575A>T (p.Asn192Ile) c.623A>T (p.Asn208Ile) c.555A>T c.737A>T (p.Asn246Ile) c.461A>T (p.Asn154Ile) n.1008A>T c.620A>T (p.Asn207Ile) c.572A>T (p.Asn191Ile) c.509A>T (p.Asn170Ile) c.506A>T (p.Asn169Ile) c.458A>T (p.Asn153Ile) n.965A>T | dbSNP |