| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.77593702T>C | CA413702706 | ATRX | c.6104A>G (p.Asp2035Gly) c.1202A>G (p.Asp401Gly) c.5990A>G (p.Asp1997Gly) c.*5732A>G (n.*5732A>G) c.588A>G n.3174A>G c.6101A>G (p.Asp2034Gly) c.6017A>G (p.Asp2006Gly) c.5987A>G (p.Asp1996Gly) c.5939A>G (p.Asp1980Gly) c.5900A>G (p.Asp1967Gly) c.5825A>G (p.Asp1942Gly) n.6446A>G c.6014A>G (p.Asp2005Gly) c.5984A>G (p.Asp1995Gly) c.5936A>G (p.Asp1979Gly) c.5903A>G (p.Asp1968Gly) c.5873A>G (p.Asp1958Gly) c.5870A>G (p.Asp1957Gly) c.5822A>G (p.Asp1941Gly) c.5786A>G (p.Asp1929Gly) c.5783A>G (p.Asp1928Gly) c.5738A>G (p.Asp1913Gly) n.6403A>G | ClinVar dbSNP |
| X | g.77593702T>A | CA256025 | ATRX | c.6104A>T (p.Asp2035Val) c.1202A>T (p.Asp401Val) c.5990A>T (p.Asp1997Val) c.*5732A>T (n.*5732A>T) c.588A>T n.3174A>T c.6101A>T (p.Asp2034Val) c.6017A>T (p.Asp2006Val) c.5987A>T (p.Asp1996Val) c.5939A>T (p.Asp1980Val) c.5900A>T (p.Asp1967Val) c.5825A>T (p.Asp1942Val) n.6446A>T c.6014A>T (p.Asp2005Val) c.5984A>T (p.Asp1995Val) c.5936A>T (p.Asp1979Val) c.5903A>T (p.Asp1968Val) c.5873A>T (p.Asp1958Val) c.5870A>T (p.Asp1957Val) c.5822A>T (p.Asp1941Val) c.5786A>T (p.Asp1929Val) c.5783A>T (p.Asp1928Val) c.5738A>T (p.Asp1913Val) n.6403A>T | ClinVar dbSNP |