| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.101360581G>A | CA255809 | BTK | n.543C>T n.923C>T n.921C>T c.763C>T (p.Arg255Ter) c.*608C>T (n.*608C>T) c.760C>T (p.Arg254Ter) c.*512C>T (n.*512C>T) c.865C>T (p.Arg289Ter) | ClinVar dbSNP COSMIC |
| X | g.101360581G>T | CA517534703 | BTK | n.543C>A n.923C>A n.921C>A c.763C>A (p.Arg255=) c.*608C>A (n.*608C>A) c.760C>A (p.Arg254=) c.*512C>A (n.*512C>A) c.865C>A (p.Arg289=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.101360581G= | CA2448285153 | BTK | n.543C= n.923C= n.921C= c.763C= (p.Arg255=) c.*608C= (n.*608C=) c.760C= (p.Arg254=) c.*512C= (n.*512C=) c.865C= (p.Arg289=) | dbSNP |