| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.77574322C>T | CA16043310 | ATRX | c.6254G>A (p.Arg2085His) n.89G>A c.1352G>A (p.Arg451His) c.6140G>A (p.Arg2047His) c.*5882G>A (n.*5882G>A) c.738G>A n.3324G>A c.6251G>A (p.Arg2084His) c.6167G>A (p.Arg2056His) c.6137G>A (p.Arg2046His) c.6089G>A (p.Arg2030His) c.6050G>A (p.Arg2017His) c.5975G>A (p.Arg1992His) n.6596G>A c.6164G>A (p.Arg2055His) c.6134G>A (p.Arg2045His) c.6086G>A (p.Arg2029His) c.6053G>A (p.Arg2018His) c.6023G>A (p.Arg2008His) c.6020G>A (p.Arg2007His) c.5972G>A (p.Arg1991His) c.5936G>A (p.Arg1979His) c.5933G>A (p.Arg1978His) c.5888G>A (p.Arg1963His) n.6553G>A | ClinVar dbSNP gnomAD v4 |
| X | g.77574322C>A | CA413701166 | ATRX | c.6254G>T (p.Arg2085Leu) n.89G>T c.1352G>T (p.Arg451Leu) c.6140G>T (p.Arg2047Leu) c.*5882G>T (n.*5882G>T) c.738G>T n.3324G>T c.6251G>T (p.Arg2084Leu) c.6167G>T (p.Arg2056Leu) c.6137G>T (p.Arg2046Leu) c.6089G>T (p.Arg2030Leu) c.6050G>T (p.Arg2017Leu) c.5975G>T (p.Arg1992Leu) n.6596G>T c.6164G>T (p.Arg2055Leu) c.6134G>T (p.Arg2045Leu) c.6086G>T (p.Arg2029Leu) c.6053G>T (p.Arg2018Leu) c.6023G>T (p.Arg2008Leu) c.6020G>T (p.Arg2007Leu) c.5972G>T (p.Arg1991Leu) c.5936G>T (p.Arg1979Leu) c.5933G>T (p.Arg1978Leu) c.5888G>T (p.Arg1963Leu) n.6553G>T | ClinVar dbSNP |