Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.101360626C>T | CA413931714 | BTK | n.498G>A n.878G>A n.876G>A c.718G>A (p.Glu240Lys) c.*563G>A (n.*563G>A) c.715G>A (p.Glu239Lys) c.*467G>A (n.*467G>A) c.820G>A (p.Glu274Lys) | dbSNP |
X | g.101360626C>A | CA255803 | BTK | n.498G>T n.878G>T n.876G>T c.718G>T (p.Glu240Ter) c.*563G>T (n.*563G>T) c.715G>T (p.Glu239Ter) c.*467G>T (n.*467G>T) c.820G>T (p.Glu274Ter) | ClinVar dbSNP |
X | g.101360626C>G | CA413931713 | BTK | n.498G>C n.878G>C n.876G>C c.718G>C (p.Glu240Gln) c.*563G>C (n.*563G>C) c.715G>C (p.Glu239Gln) c.*467G>C (n.*467G>C) c.820G>C (p.Glu274Gln) | dbSNP |