Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.77523290T>G | CA517374835 | ATRX | c.6811A>C (p.Arg2271=) c.1909A>C (p.Arg637=) c.6697A>C (p.Arg2233=) c.*6439A>C (n.*6439A>C) n.3881A>C c.6808A>C (p.Arg2270=) c.6724A>C (p.Arg2242=) c.6694A>C (p.Arg2232=) c.6646A>C (p.Arg2216=) c.6607A>C (p.Arg2203=) c.6532A>C (p.Arg2178=) n.7153A>C c.6721A>C (p.Arg2241=) c.6691A>C (p.Arg2231=) c.6643A>C (p.Arg2215=) c.6610A>C (p.Arg2204=) c.6580A>C (p.Arg2194=) c.6577A>C (p.Arg2193=) c.6529A>C (p.Arg2177=) c.6493A>C (p.Arg2165=) c.6490A>C (p.Arg2164=) c.6445A>C (p.Arg2149=) n.7110A>C | ClinVar dbSNP |
X | g.77523290T>C | CA121662 | ATRX | c.6811A>G (p.Arg2271Gly) c.1909A>G (p.Arg637Gly) c.6697A>G (p.Arg2233Gly) c.*6439A>G (n.*6439A>G) n.3881A>G c.6808A>G (p.Arg2270Gly) c.6724A>G (p.Arg2242Gly) c.6694A>G (p.Arg2232Gly) c.6646A>G (p.Arg2216Gly) c.6607A>G (p.Arg2203Gly) c.6532A>G (p.Arg2178Gly) n.7153A>G c.6721A>G (p.Arg2241Gly) c.6691A>G (p.Arg2231Gly) c.6643A>G (p.Arg2215Gly) c.6610A>G (p.Arg2204Gly) c.6580A>G (p.Arg2194Gly) c.6577A>G (p.Arg2193Gly) c.6529A>G (p.Arg2177Gly) c.6493A>G (p.Arg2165Gly) c.6490A>G (p.Arg2164Gly) c.6445A>G (p.Arg2149Gly) n.7110A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |