| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.77684520G>C | CA413720778 | ATRX | c.736C>G (p.Arg246Gly) c.622C>G (p.Arg208Gly) c.*364C>G (n.*364C>G) c.571C>G (p.Arg191Gly) c.619C>G (p.Arg207Gly) c.551C>G c.733C>G (p.Arg245Gly) c.457C>G (p.Arg153Gly) n.1004C>G c.616C>G (p.Arg206Gly) c.568C>G (p.Arg190Gly) c.505C>G (p.Arg169Gly) c.502C>G (p.Arg168Gly) c.454C>G (p.Arg152Gly) n.961C>G | dbSNP |
| X | g.77684520G>A | CA204872 | ATRX | c.736C>T (p.Arg246Cys) c.622C>T (p.Arg208Cys) c.*364C>T (n.*364C>T) c.571C>T (p.Arg191Cys) c.619C>T (p.Arg207Cys) c.551C>T c.733C>T (p.Arg245Cys) c.457C>T (p.Arg153Cys) n.1004C>T c.616C>T (p.Arg206Cys) c.568C>T (p.Arg190Cys) c.505C>T (p.Arg169Cys) c.502C>T (p.Arg168Cys) c.454C>T (p.Arg152Cys) n.961C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |