| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48681722_48688043delinsTGAAGAGACTCCAGTGAATCCTCACTGCCCTTCCTTCCCTCCCTTCATAGTGAAACCCTCTTGCCCTCTCCTGCCCAAAGAGACTCTGAGGGGCCAGAATTAATGAATGAGACTGAATGAGTGAATGAGTATAGGCAGGAGTTATGGAATTAGAAGGGCTCCATAGTTTGTGGTGCTGATCCATCCACCCATCCCTCTTTCCCCATCTATCCCATGCATTTGTCCACCTATTCATTCACATTCATCTGTTGGACTACTGATCTGTCCATACATCTGTCTCTGCAACTATCTGCCCACATATGTCTGTTCACCCATTTGTCCACCAGTCTGTCCTCACACACACTTGTCCATCCACCCATCCACCTACCCATGTGCCCACCTTTCCATCTATCCATCCACTCATTTTTCTACCCATGCAACCACACACTTCTGTTCACTTATCCATTGAACTGTCCATTCATCCACGTATCTGTCCACCTGTCCATCCCCATCCACCTTGTCTGTGAGCCAATCAGCCTGCATATCAATCTGTCCACACACCTATCCACTCACCCATCTATCTATCCACGCACCTCCCATCAACCCATCCACCCATAAACTTGTCCATCCAACCACTTATCCATTCATTCTTCAACCCATTCATTCATCCATTCATTTATCCATCCATCCACCCATCCACTCACCCACCTACCCACCAGCCCTTCTCATCCATCATCTACCTCATCTATCTATCCATTTGTTCACCTGCCCACCCACCTGCTCTCCTAACAGCCCACCCAGAGTGGGCCCAGGGTGAGGCAAGTAAGGTGCCTAGGGTGCAAAATTTAAGTGAGTCACTCACTCTGAGAGTCAGGAATTACAGTTGCATGCCTCTGAGAGTGAGTGCCTCCTTAAATTTTGTACCCTTGGTGCCTTATTTACCTCTCCCTAGACCCAGCCCTGCACCTACCTATCCAACCACCCATTTACCCACTCAGCCACCCAGCCATCTGCCCATCTGCCCATCCTTCCATTCACTCAGCTGTCCACTTGTTCATGTGCCCCTCTGCCCCCAGGAATCTGTGGGTCCACTGGGGAGTGGCTCTCACTTGAATCCACTGGGTGCACCAATATCAGCTTTGCTGATCTTCTTCTTCCCTGAGCGTTTCTTATCAGCTGGGCTAGGTCCAGGTGCTGGGAGCCCACGGTATCGTGAACTCGTGATGTCAGGGTTCTGGATGTCCACTGTCGCCAGCCCCAGGGAGAGCGGACCCACTGGAGGGCCTGTGGGGAAAATAGGGTGGTTGGCTCATTGACCCACTTACCAACCAACCAAAGCACAGGGGCAAGAAACGGAAGCCTTGAGGGAAATCTGTGTGTGTGTTGGATGGTCATGGAGGTAGTGGGTGAAGGGTTCAAGTAGGGTCTATGGAGAAGTGGGTGGATCCCACAAACCATTCATACATTCACTGATTCATTCATGTTTTCATTCCCTCATGCTTTATCATTCACTGGCTCATTGACTAATGAATTTGTTAAAATATTCATTTACTCATTTATTCATTCAATCATGCTTTCTTCACTGACTGAAACTTGTCATTTAGTCATTTATTCACTGTTCATTCATTCACTCATTGATTAATTTACTCAGTCATCCATCTACCTTTTCATTCATTTATCCACATACCCATTCACCTATGCATCTATCTACTTAGACTTTCATCCTCCCATCAATTCATCCCTCTACTCAGCCATCTACCGCCAATCCATCCACCCATCCATCAGTCCACACATCCATGCACCTGCTCGTCCATCCACATACCTATCAATCTACCTATCCATTCACCCACTTACGCACCCATCCAACTCCTCATTCCTCCATCCACTCTTACCCATCCATCCAGAGACACAGGGAAGAATCAGCACGCACCTCCTTGGTCTCCACCTGGATGCAGGGGCAGGGGTGGGAGCCCTCCTCTTCTCTCTGGGAAGATGGAATGTGTAGAGAGTTATCACAGCCCTGCCACAGGTTCCTGGGCTAGCCCCTTATTACCCCTACTTGCACTAGAGGACTCACCTTCATTGGCTGGTGTTGGTGGTGGGGGTAGCTGGCGTCTGTCTGTGGATAGATGGATTGGGAGCCAGGACCATGAGAGGGGACTTTTCTAGTTCCCCAGGCTTGCACTCACCTCTGCCCAACTTCCTTTCCTCCCCTGTGGCCTCCTCACCTCCACTTTGCCTCTGATTCCTTTTTTGTATCTTCTCCTGCACGAGGGCCCGGAAGGCCTGGGCCTCGTCCTCGTCTGCAAAGTTCAGCCCCGCTTGGCAGTCCTGCACATACCTTGGGGTCAGCCGCCTCCCAGGTCCCCCGCAACTTTCCCATCTCCTCTCCACACCCCAAGTGAGGCCCGAGGGCTGGTTGATCACTTACATCTCCAGCGAAGGTGTGGAAGAAGGGGGTGGGGGTGGAGTAGACAAGCTGTGAGTACAGCTCCTGTTCCCAGAGCAGCCGACCAGCCTGGAGAGGTGTAGGGTGGGAGGCACAGTGGCACTGAGGCACGCCGGGGGTGGCAGGCTTTTGTTAGCTGGGCAGGGAGCAGGGTGTCTGGATTTGGGAGCCTCATAGTCTGGTTTGGAGATTTTCAGCTCAGCACCAGAGAGTTGGTGTCTAAGGGTGTGGATTGTGGGGTATAGTCTGGGAGCCATACACTTTTGTGAGAGGTTTGGATTTGGGGTTTGGGGCCCTAGATCTGGGACTTGGGGGCTTGAATTTCATAATTTAGGACTCTAGTCTTAGGAAGTTGAGGCTCATTCACAGATTCAATCCATGCCCTCCCCCACCACCCCAGCCCCAATTCATGACAGGTAGGATTCTAGTATTTGGGGGTTGGAGTTGAGATTTGAAGTTCAGACACATAGACTTGGGAGTTTCGCGGGGAGTCCAGCTAAAGTAAGTGCAATTTGGGGTTTGTGGAGAGAGTTATGGTTTAGGAGTTTGGTGGATATTTGATAGCCTTGGGATCTGGAAGTTATGCTGGGTCCATCTTTATGGGTTTAAAAGGATGAATTTGGGGCTTAAACCTAGAAAGTTCAGGTCAGGGGATTGTGGAAAAGACTTTTTGCTTAAGAACTACCTCGGTATTTGAGTGTTCAGGAATTTTAATATGGGAACTCTGGGGTCTGTGCTGTGGATTTAGAAGGACAGATTTGGAGTTCAAGGATCAATGGAATATTCAACTTTGGGGTTTGTTGAACAGATTTATGACTTAGGAGCTTGGCAAACATCTGGGGTTCAGGAGTTTTGATGAGAGATTCCTGGGATGCAAAATGTTGAGTTTAGAATAGATTTGAGGTTCAGGTACAAATACAGTGCTCATTTATTGGAATTTGTGGAAAAGATTAGGCTTAGGCAGCAGACTAATACTGGGGGCTTTAGAGATCTTGATACGGAGACTGGGGCCAGTCATTGCAGACTTAGAAAGGCAAGTCAGAGTTTGCCATCTGGATGAGTCTTTGGTTCTGGGGCTCAGGGATTCACTGATCAGGTCTGAGGTCTTGAAGCTATGGACACATATGGACACAGATCTGGGTTTGCGGGTTGAGAACTGGCTTGCAAGTCCAGTCGGGGGTGGGGGGGTCACCTGAAGGCCGTAAAGGCGGATGAAGTAGGACTTCTGGGGGTTATCCTTCACGAAGCACACAGCCCCACAATGCTCCTTGGTCCAGTGCTCAGCTCCAGGGGGCAGCGCCAGGTACAGCTGAACAACTGCAGTGGCCAGCGTCTGGGAGAGGAAAGCAGGGGTCAGTGGAGTCTGGTCAGGGGTAGCCACAAGGTCTTGGAGCCAGACCTGGTCCTTCCTGCCTCATGACAGTCATGGGCCCAAAGGAAGAGCTGCAGCCAGAGGGAAGGCAAGTAGACATTGAGATCTTCCTGGGAAGGGTGGATTATGACGGGAAATTCTAGGAGAGGAGATGATGGAGAGGGAAAGGAGGAGCGGGAGGAGGGGAAGAGAGAGAAGGAGGAGAGGAAGAGGAAGAAACGGTGGGGACGGGGCGGGGGCAGGAGATCCCCAGCTCACCAAGCATTTTCGTCCAAGCATCTCAAAGAGTCGCTGGTTCTCGTGGTCCTGGAGGAGGGTGGAGGGTATGTTCTGCTGAACCGCTGGTGCTCCTCGGCCCCCGGGCCTTCCTCCCATTGGGCCCCCACTCATGGTGCTTTCTGCCCTTGTCTTCTCTGGCGAGGCTCTGGGTGCAGGGTAAGAAGAGGAACTTCCGCAATGAGCAGCAAGGGAACAGGAAATGCAAAAAACCACAAGGGACAAGGGAAACAAGTCCTCCAGGGGCCCCTTGGTGGGCCTGGCCTCCTCGTTAGGCTGAGCTTGGGCCCTCCGCCATCAGATTGGAACCCTCCTCCACTTGACTGCTTAGACCCACCTTTTGGATCAGCTTGGGTCCTCCTCCCCCTTTCTTACTCTCTGGGGCCCATCTCCTTCTGACTGGCTCAGACCCTCCTCCCTCTGGCTGGCAGCGAGAGCTTAGCACATCTGTGTGCAGGGCTCCCTGTGGCAAGGAGTAGTCATGGGCCTGGGTGGCCTCCTTTCTAAAGCACCTAGGTAGCCTGAGGCTGAGGCCCGAGGTCCCTAGTCCGGAAGGGTTACTACAGTAAAACTTTTCCTTTTGGCTGGGGACAATAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGAGTGGATCACTTGAGGTCAGGAGTTCAAGACGAGCCTGGGCAACATGGCAAAACCCCATTTCCACTAAAAAATACAAAAATTAGCCAGGCATGGTGGCACACACCTGTAGTCCTAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGACTGCACCACTGCACTCCAGCCTGGATGATGACAGAGCAAGACCCTTGTCTCAAAAACAGCAACAACAACAACACAACAAAAACCCTTTTCCTTTTAATTACAGAGCGAGCCCCTGTGATCCACGCCTATCGTGAGTGCTTAGACACTGCCAATGACGCATATGCCTCTGGTCCACTTCCCCATCCCTTACCCTTGCCTCCCCGCAGCTCCCAAATTACTTTCTGCTTGTCATACTTTTTTTTTTCTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCGGTGGCACGATCTCGGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATTTCTCGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTATTAGAATTACAGGCGTGAGCCACCGTGCCCAGCCCATCCCTTTTTTAAAGAAAGGAACTTTATATCATATATGAATGCCTGAACAACATCTTGTTTAGTTTTCATTGCACTTGAAGTTTGTAAAAGCACATAATCTTCAAAGGCTTGCTTTCTCCCCACTGGACATCCTAGTTTTATCTTAACACTCACATAGCACTTAACGTGTGTGCCAGTCACTGTTCTGACCCCTTTGCCCGGAGTGCGAGCCAGGCAGGCCAGGTGTGAGTGCATGGTCTCGTCCCTCCACGCCTTCACTCTTGGCTGTTGCTGTGATTCCTGTTTGCCTATAGTGGTAGCTGTTCATTTATTTCCACTGCCATACAGCATTCCATGGTGTGCATGTGCAGCCTGGGTGTCCATATTCTCCTGTAACAGCCCTTTGGGCTGCTTCTGGTTCTTGCTGTTGGGAGCAACACTGCAGTGTTCACTCCCGCACACATCTCCTGGTCCACATAGGCATGCAGACTCTCAGACGGGAATCTGAGGGCTGTAGGGTTTGCATGTCTCTAACTTCTCCAGATGATGCCAGACTATTTCCACAAGTGAATGCTAGCTCAGTCCCCGGCCTCCCCAGGCCTCAGTTTCCCCATGTATGAGGTAGGCCATTTGGAGACTTGAAGCTCTCAGATACAGGAACAGCAGTTTGGGGGAGCTGAGCAGGTCTGGGGTGTGACTGACATTCCCAGGTACCTGAAGGAGGAACGGCACATCTCCAGTTGGGACCTGCAGTCCTTCCTGGAAACTTCCATGGCTTCCCACACGTGCAGGTTCAAAGCCTCTCTCCTGAACCTAGGTTCAGAACCCCTTCTGCAGTGGCAGTTCCAACCTCCCTCCCGTGTCCCCACTCACAGCTAAGCTTCGGGCCTGGAGCACCTCCAACCTGCTG | CA915951079 | WAS | c.-34-2098_735-11delinsTGAAGAGACTCCAGTGAATCCTCACTGCCCTTCCTTCCCTCCCTTCATAGTGAAACCCTCTTGCCCTCTCCTGCCCAAAGAGACTCTGAGGGGCCAGAATTAATGAATGAGACTGAATGAGTGAATGAGTATAGGCAGGAGTTATGGAATTAGAAGGGCTCCATAGTTTGTGGTGCTGATCCATCCACCCATCCCTCTTTCCCCATCTATCCCATGCATTTGTCCACCTATTCATTCACATTCATCTGTTGGACTACTGATCTGTCCATACATCTGTCTCTGCAACTATCTGCCCACATATGTCTGTTCACCCATTTGTCCACCAGTCTGTCCTCACACACACTTGTCCATCCACCCATCCACCTACCCATGTGCCCACCTTTCCATCTATCCATCCACTCATTTTTCTACCCATGCAACCACACACTTCTGTTCACTTATCCATTGAACTGTCCATTCATCCACGTATCTGTCCACCTGTCCATCCCCATCCACCTTGTCTGTGAGCCAATCAGCCTGCATATCAATCTGTCCACACACCTATCCACTCACCCATCTATCTATCCACGCACCTCCCATCAACCCATCCACCCATAAACTTGTCCATCCAACCACTTATCCATTCATTCTTCAACCCATTCATTCATCCATTCATTTATCCATCCATCCACCCATCCACTCACCCACCTACCCACCAGCCCTTCTCATCCATCATCTACCTCATCTATCTATCCATTTGTTCACCTGCCCACCCACCTGCTCTCCTAACAGCCCACCCAGAGTGGGCCCAGGGTGAGGCAAGTAAGGTGCCTAGGGTGCAAAATTTAAGTGAGTCACTCACTCTGAGAGTCAGGAATTACAGTTGCATGCCTCTGAGAGTGAGTGCCTCCTTAAATTTTGTACCCTTGGTGCCTTATTTACCTCTCCCTAGACCCAGCCCTGCACCTACCTATCCAACCACCCATTTACCCACTCAGCCACCCAGCCATCTGCCCATCTGCCCATCCTTCCATTCACTCAGCTGTCCACTTGTTCATGTGCCCCTCTGCCCCCAGGAATCTGTGGGTCCACTGGGGAGTGGCTCTCACTTGAATCCACTGGGTGCACCAATATCAGCTTTGCTGATCTTCTTCTTCCCTGAGCGTTTCTTATCAGCTGGGCTAGGTCCAGGTGCTGGGAGCCCACGGTATCGTGAACTCGTGATGTCAGGGTTCTGGATGTCCACTGTCGCCAGCCCCAGGGAGAGCGGACCCACTGGAGGGCCTGTGGGGAAAATAGGGTGGTTGGCTCATTGACCCACTTACCAACCAACCAAAGCACAGGGGCAAGAAACGGAAGCCTTGAGGGAAATCTGTGTGTGTGTTGGATGGTCATGGAGGTAGTGGGTGAAGGGTTCAAGTAGGGTCTATGGAGAAGTGGGTGGATCCCACAAACCATTCATACATTCACTGATTCATTCATGTTTTCATTCCCTCATGCTTTATCATTCACTGGCTCATTGACTAATGAATTTGTTAAAATATTCATTTACTCATTTATTCATTCAATCATGCTTTCTTCACTGACTGAAACTTGTCATTTAGTCATTTATTCACTGTTCATTCATTCACTCATTGATTAATTTACTCAGTCATCCATCTACCTTTTCATTCATTTATCCACATACCCATTCACCTATGCATCTATCTACTTAGACTTTCATCCTCCCATCAATTCATCCCTCTACTCAGCCATCTACCGCCAATCCATCCACCCATCCATCAGTCCACACATCCATGCACCTGCTCGTCCATCCACATACCTATCAATCTACCTATCCATTCACCCACTTACGCACCCATCCAACTCCTCATTCCTCCATCCACTCTTACCCATCCATCCAGAGACACAGGGAAGAATCAGCACGCACCTCCTTGGTCTCCACCTGGATGCAGGGGCAGGGGTGGGAGCCCTCCTCTTCTCTCTGGGAAGATGGAATGTGTAGAGAGTTATCACAGCCCTGCCACAGGTTCCTGGGCTAGCCCCTTATTACCCCTACTTGCACTAGAGGACTCACCTTCATTGGCTGGTGTTGGTGGTGGGGGTAGCTGGCGTCTGTCTGTGGATAGATGGATTGGGAGCCAGGACCATGAGAGGGGACTTTTCTAGTTCCCCAGGCTTGCACTCACCTCTGCCCAACTTCCTTTCCTCCCCTGTGGCCTCCTCACCTCCACTTTGCCTCTGATTCCTTTTTTGTATCTTCTCCTGCACGAGGGCCCGGAAGGCCTGGGCCTCGTCCTCGTCTGCAAAGTTCAGCCCCGCTTGGCAGTCCTGCACATACCTTGGGGTCAGCCGCCTCCCAGGTCCCCCGCAACTTTCCCATCTCCTCTCCACACCCCAAGTGAGGCCCGAGGGCTGGTTGATCACTTACATCTCCAGCGAAGGTGTGGAAGAAGGGGGTGGGGGTGGAGTAGACAAGCTGTGAGTACAGCTCCTGTTCCCAGAGCAGCCGACCAGCCTGGAGAGGTGTAGGGTGGGAGGCACAGTGGCACTGAGGCACGCCGGGGGTGGCAGGCTTTTGTTAGCTGGGCAGGGAGCAGGGTGTCTGGATTTGGGAGCCTCATAGTCTGGTTTGGAGATTTTCAGCTCAGCACCAGAGAGTTGGTGTCTAAGGGTGTGGATTGTGGGGTATAGTCTGGGAGCCATACACTTTTGTGAGAGGTTTGGATTTGGGGTTTGGGGCCCTAGATCTGGGACTTGGGGGCTTGAATTTCATAATTTAGGACTCTAGTCTTAGGAAGTTGAGGCTCATTCACAGATTCAATCCATGCCCTCCCCCACCACCCCAGCCCCAATTCATGACAGGTAGGATTCTAGTATTTGGGGGTTGGAGTTGAGATTTGAAGTTCAGACACATAGACTTGGGAGTTTCGCGGGGAGTCCAGCTAAAGTAAGTGCAATTTGGGGTTTGTGGAGAGAGTTATGGTTTAGGAGTTTGGTGGATATTTGATAGCCTTGGGATCTGGAAGTTATGCTGGGTCCATCTTTATGGGTTTAAAAGGATGAATTTGGGGCTTAAACCTAGAAAGTTCAGGTCAGGGGATTGTGGAAAAGACTTTTTGCTTAAGAACTACCTCGGTATTTGAGTGTTCAGGAATTTTAATATGGGAACTCTGGGGTCTGTGCTGTGGATTTAGAAGGACAGATTTGGAGTTCAAGGATCAATGGAATATTCAACTTTGGGGTTTGTTGAACAGATTTATGACTTAGGAGCTTGGCAAACATCTGGGGTTCAGGAGTTTTGATGAGAGATTCCTGGGATGCAAAATGTTGAGTTTAGAATAGATTTGAGGTTCAGGTACAAATACAGTGCTCATTTATTGGAATTTGTGGAAAAGATTAGGCTTAGGCAGCAGACTAATACTGGGGGCTTTAGAGATCTTGATACGGAGACTGGGGCCAGTCATTGCAGACTTAGAAAGGCAAGTCAGAGTTTGCCATCTGGATGAGTCTTTGGTTCTGGGGCTCAGGGATTCACTGATCAGGTCTGAGGTCTTGAAGCTATGGACACATATGGACACAGATCTGGGTTTGCGGGTTGAGAACTGGCTTGCAAGTCCAGTCGGGGGTGGGGGGGTCACCTGAAGGCCGTAAAGGCGGATGAAGTAGGACTTCTGGGGGTTATCCTTCACGAAGCACACAGCCCCACAATGCTCCTTGGTCCAGTGCTCAGCTCCAGGGGGCAGCGCCAGGTACAGCTGAACAACTGCAGTGGCCAGCGTCTGGGAGAGGAAAGCAGGGGTCAGTGGAGTCTGGTCAGGGGTAGCCACAAGGTCTTGGAGCCAGACCTGGTCCTTCCTGCCTCATGACAGTCATGGGCCCAAAGGAAGAGCTGCAGCCAGAGGGAAGGCAAGTAGACATTGAGATCTTCCTGGGAAGGGTGGATTATGACGGGAAATTCTAGGAGAGGAGATGATGGAGAGGGAAAGGAGGAGCGGGAGGAGGGGAAGAGAGAGAAGGAGGAGAGGAAGAGGAAGAAACGGTGGGGACGGGGCGGGGGCAGGAGATCCCCAGCTCACCAAGCATTTTCGTCCAAGCATCTCAAAGAGTCGCTGGTTCTCGTGGTCCTGGAGGAGGGTGGAGGGTATGTTCTGCTGAACCGCTGGTGCTCCTCGGCCCCCGGGCCTTCCTCCCATTGGGCCCCCACTCATGGTGCTTTCTGCCCTTGTCTTCTCTGGCGAGGCTCTGGGTGCAGGGTAAGAAGAGGAACTTCCGCAATGAGCAGCAAGGGAACAGGAAATGCAAAAAACCACAAGGGACAAGGGAAACAAGTCCTCCAGGGGCCCCTTGGTGGGCCTGGCCTCCTCGTTAGGCTGAGCTTGGGCCCTCCGCCATCAGATTGGAACCCTCCTCCACTTGACTGCTTAGACCCACCTTTTGGATCAGCTTGGGTCCTCCTCCCCCTTTCTTACTCTCTGGGGCCCATCTCCTTCTGACTGGCTCAGACCCTCCTCCCTCTGGCTGGCAGCGAGAGCTTAGCACATCTGTGTGCAGGGCTCCCTGTGGCAAGGAGTAGTCATGGGCCTGGGTGGCCTCCTTTCTAAAGCACCTAGGTAGCCTGAGGCTGAGGCCCGAGGTCCCTAGTCCGGAAGGGTTACTACAGTAAAACTTTTCCTTTTGGCTGGGGACAATAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGAGTGGATCACTTGAGGTCAGGAGTTCAAGACGAGCCTGGGCAACATGGCAAAACCCCATTTCCACTAAAAAATACAAAAATTAGCCAGGCATGGTGGCACACACCTGTAGTCCTAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGACTGCACCACTGCACTCCAGCCTGGATGATGACAGAGCAAGACCCTTGTCTCAAAAACAGCAACAACAACAACACAACAAAAACCCTTTTCCTTTTAATTACAGAGCGAGCCCCTGTGATCCACGCCTATCGTGAGTGCTTAGACACTGCCAATGACGCATATGCCTCTGGTCCACTTCCCCATCCCTTACCCTTGCCTCCCCGCAGCTCCCAAATTACTTTCTGCTTGTCATACTTTTTTTTTTCTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCGGTGGCACGATCTCGGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATTTCTCGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTATTAGAATTACAGGCGTGAGCCACCGTGCCCAGCCCATCCCTTTTTTAAAGAAAGGAACTTTATATCATATATGAATGCCTGAACAACATCTTGTTTAGTTTTCATTGCACTTGAAGTTTGTAAAAGCACATAATCTTCAAAGGCTTGCTTTCTCCCCACTGGACATCCTAGTTTTATCTTAACACTCACATAGCACTTAACGTGTGTGCCAGTCACTGTTCTGACCCCTTTGCCCGGAGTGCGAGCCAGGCAGGCCAGGTGTGAGTGCATGGTCTCGTCCCTCCACGCCTTCACTCTTGGCTGTTGCTGTGATTCCTGTTTGCCTATAGTGGTAGCTGTTCATTTATTTCCACTGCCATACAGCATTCCATGGTGTGCATGTGCAGCCTGGGTGTCCATATTCTCCTGTAACAGCCCTTTGGGCTGCTTCTGGTTCTTGCTGTTGGGAGCAACACTGCAGTGTTCACTCCCGCACACATCTCCTGGTCCACATAGGCATGCAGACTCTCAGACGGGAATCTGAGGGCTGTAGGGTTTGCATGTCTCTAACTTCTCCAGATGATGCCAGACTATTTCCACAAGTGAATGCTAGCTCAGTCCCCGGCCTCCCCAGGCCTCAGTTTCCCCATGTATGAGGTAGGCCATTTGGAGACTTGAAGCTCTCAGATACAGGAACAGCAGTTTGGGGGAGCTGAGCAGGTCTGGGGTGTGACTGACATTCCCAGGTACCTGAAGGAGGAACGGCACATCTCCAGTTGGGACCTGCAGTCCTTCCTGGAAACTTCCATGGCTTCCCACACGTGCAGGTTCAAAGCCTCTCTCCTGAACCTAGGTTCAGAACCCCTTCTGCAGTGGCAGTTCCAACCTCCCTCCCGTGTCCCCACTCACAGCTAAGCTTCGGGCCTGGAGCACCTCCAACCTGCTG | ClinVar |
| X | g.48683762_48683764del | CA2693642810 | WAS | c.-34-58_-34-56del (n.-34-58_-34-56del) c.-92_-90del (n.-92_-90del) | gnomAD v4 |
| X | g.48683763C>A | CA2693642812 | WAS | c.-34-57C>A (n.-34-57C>A) c.-91C>A (n.-91C>A) | gnomAD v4 |
| X | g.48683763C= | CA2428354124 | WAS | c.-34-57C= (n.-34-57C=) c.-91C= (n.-91C=) | |
| X | g.48683763C>T | CA2428354125 | WAS | c.-34-57C>T (n.-34-57C>T) c.-91C>T (n.-91C>T) | dbSNP gnomAD v4 |
| X | g.48683764A= | CA2428354126 | WAS | c.-34-56A= (n.-34-56A=) c.-90A= (n.-90A=) | |
| X | g.48683764A>G | CA641510470 | WAS | c.-34-56A>G (n.-34-56A>G) c.-90A>G (n.-90A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683764A>T | CA2693642813 | WAS | c.-34-56A>T (n.-34-56A>T) c.-90A>T (n.-90A>T) | gnomAD v4 |
| X | g.48683765T>C | CA2579600559 | WAS | c.-34-55T>C (n.-34-55T>C) c.-89T>C (n.-89T>C) | |
| X | g.48683768C>T | CA2532903950 | WAS | c.-34-52C>T (n.-34-52C>T) c.-86C>T (n.-86C>T) | gnomAD v4 |
| X | g.48683769C>A | CA2693642814 | WAS | c.-34-51C>A (n.-34-51C>A) c.-85C>A (n.-85C>A) | dbSNP gnomAD v4 |
| X | g.48683769C>T | CA2531588860 | WAS | c.-34-51C>T (n.-34-51C>T) c.-85C>T (n.-85C>T) | gnomAD v4 |
| X | g.48683771G>T | CA2693642815 | WAS | c.-34-49G>T (n.-34-49G>T) c.-83G>T (n.-83G>T) | gnomAD v4 |
| X | g.48683772T>C | CA2693642816 | WAS | c.-34-48T>C (n.-34-48T>C) c.-82T>C (n.-82T>C) | gnomAD v4 |
| X | g.48683776C>A | CA2693642817 | WAS | c.-34-44C>A (n.-34-44C>A) c.-78C>A (n.-78C>A) | gnomAD v4 |
| X | g.48683776C>T | CA2693642818 | WAS | c.-34-44C>T (n.-34-44C>T) c.-78C>T (n.-78C>T) | gnomAD v4 |
| X | g.48683777T>C | CA2579600560 | WAS | c.-34-43T>C (n.-34-43T>C) c.-77T>C (n.-77T>C) | |
| X | g.48683778T>G | CA641510472 | WAS | c.-34-42T>G (n.-34-42T>G) c.-76T>G (n.-76T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683778T= | CA2428354127 | WAS | c.-34-42T= (n.-34-42T=) c.-76T= (n.-76T=) | |
| X | g.48683780C>A | CA2693642819 | WAS | c.-34-40C>A (n.-34-40C>A) c.-74C>A (n.-74C>A) | gnomAD v4 |
| X | g.48683780C>T | CA2693642820 | WAS | c.-34-40C>T (n.-34-40C>T) c.-74C>T (n.-74C>T) | gnomAD v4 |
| X | g.48683781T>A | CA2693642821 | WAS | c.-34-39T>A (n.-34-39T>A) c.-73T>A (n.-73T>A) | gnomAD v4 |
| X | g.48683782G>T | CA2693642822 | WAS | c.-34-38G>T (n.-34-38G>T) c.-72G>T (n.-72G>T) | gnomAD v4 |
| X | g.48683783C>A | CA2693642823 | WAS | c.-34-37C>A (n.-34-37C>A) c.-71C>A (n.-71C>A) | gnomAD v4 |
| X | g.48683784dup | CA657966336 | WAS | c.-34-36dup (n.-34-36dup) c.-70dup (n.-70dup) | COSMIC |
| X | g.48683785C>A | CA2693642824 | WAS | c.-34-35C>A (n.-34-35C>A) c.-69C>A (n.-69C>A) | gnomAD v4 |
| X | g.48683785C= | CA2428354128 | WAS | c.-34-35C= (n.-34-35C=) c.-69C= (n.-69C=) | |
| X | g.48683785C>T | CA641510473 | WAS | c.-34-35C>T (n.-34-35C>T) c.-69C>T (n.-69C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683787T>C | CA641510474 | WAS | c.-34-33T>C (n.-34-33T>C) c.-67T>C (n.-67T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683787T= | CA2428354129 | WAS | c.-34-33T= (n.-34-33T=) c.-67T= (n.-67T=) | |
| X | g.48683789G>T | CA2693642825 | WAS | c.-34-31G>T (n.-34-31G>T) c.-65G>T (n.-65G>T) | gnomAD v4 |
| X | g.48683790del | CA2579600561 | WAS | c.-34-30del (n.-34-30del) c.-64del (n.-64del) | |
| X | g.48683790C>A | CA875913443 | WAS | c.-34-30C>A (n.-34-30C>A) c.-64C>A (n.-64C>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683790C= | CA2428354131 | WAS | c.-34-30C= (n.-34-30C=) c.-64C= (n.-64C=) | |
| X | g.48683790C>G | CA2428354130 | WAS | c.-34-30C>G (n.-34-30C>G) c.-64C>G (n.-64C>G) | dbSNP |
| X | g.48683790C>T | CA2820814512 | WAS | c.-34-30C>T (n.-34-30C>T) c.-64C>T (n.-64C>T) | |
| X | g.48683791G>A | CA329099828 | WAS | c.-34-29G>A (n.-34-29G>A) c.-63G>A (n.-63G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683791G= | CA2428354132 | WAS | c.-34-29G= (n.-34-29G=) c.-63G= (n.-63G=) | |
| X | g.48683791_48683792insA | CA657966337 | WAS | c.-34-29_-34-28insA (n.-34-29_-34-28insA) c.-63_-62insA (n.-63_-62insA) c.-62-1_-62insA (n.-62-1_-62insA) | COSMIC |
| X | g.48683792G>A | CA875913453 | WAS | c.-34-28G>A (n.-34-28G>A) c.-62G>A (n.-62G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683792G= | CA2428354133 | WAS | c.-34-28G= (n.-34-28G=) c.-62G= (n.-62G=) | |
| X | g.48683792G>T | CA2693642826 | WAS | c.-34-28G>T (n.-34-28G>T) c.-62G>T (n.-62G>T) | gnomAD v4 |
| X | g.48683796T>A | CA2428354135 | WAS | c.-34-24T>A (n.-34-24T>A) c.-58T>A (n.-58T>A) | dbSNP |
| X | g.48683796T= | CA2428354134 | WAS | c.-34-24T= (n.-34-24T=) c.-58T= (n.-58T=) | |
| X | g.48683798C>T | CA2693642827 | WAS | c.-34-22C>T (n.-34-22C>T) c.-56C>T (n.-56C>T) | gnomAD v4 |
| X | g.48683801C>A | CA2693642828 | WAS | c.-34-19C>A (n.-34-19C>A) c.-53C>A (n.-53C>A) | gnomAD v4 |
| X | g.48683801C>T | CA2693642829 | WAS | c.-34-19C>T (n.-34-19C>T) c.-53C>T (n.-53C>T) | gnomAD v4 |
| X | g.48683802T>C | CA1132960281 | WAS | c.-34-18T>C (n.-34-18T>C) c.-52T>C (n.-52T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683802T= | CA2428354136 | WAS | c.-34-18T= (n.-34-18T=) c.-52T= (n.-52T=) | |
| X | g.48683804C>A | CA2738505065 | WAS | c.-34-16C>A (n.-34-16C>A) c.-50C>A (n.-50C>A) | dbSNP |
| X | g.48683808C>A | CA2693642830 | WAS | c.-34-12C>A (n.-34-12C>A) c.-46C>A (n.-46C>A) | gnomAD v4 |
| X | g.48683809C>A | CA2579600562 | WAS | c.-34-11C>A (n.-34-11C>A) c.-45C>A (n.-45C>A) | gnomAD v4 |
| X | g.48683809C>T | CA2693642831 | WAS | c.-34-11C>T (n.-34-11C>T) c.-45C>T (n.-45C>T) | gnomAD v4 |
| X | g.48683810C= | CA2428354137 | WAS | c.-34-10C= (n.-34-10C=) c.-44C= (n.-44C=) | |
| X | g.48683810C>G | CA2428354138 | WAS | c.-34-10C>G (n.-34-10C>G) c.-44C>G (n.-44C>G) | dbSNP |
| X | g.48683810C>T | CA2693642832 | WAS | c.-34-10C>T (n.-34-10C>T) c.-44C>T (n.-44C>T) | gnomAD v4 |
| X | g.48683811T>C | CA1132960282 | WAS | c.-34-9T>C (n.-34-9T>C) c.-43T>C (n.-43T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683811T>G | CA1132960283 | WAS | c.-34-9T>G (n.-34-9T>G) c.-43T>G (n.-43T>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683811T= | CA2428354139 | WAS | c.-34-9T= (n.-34-9T=) c.-43T= (n.-43T=) | |
| X | g.48683812G>A | CA2820814514 | WAS | c.-34-8G>A (n.-34-8G>A) c.-42G>A (n.-42G>A) | |
| X | g.48683813C= | CA2428354140 | WAS | c.-34-7C= (n.-34-7C=) c.-41C= (n.-41C=) | |
| X | g.48683813C>T | CA10403821 | WAS | c.-34-7C>T (n.-34-7C>T) c.-41C>T (n.-41C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683814A= | CA2428354142 | WAS | c.-34-6A= (n.-34-6A=) c.-40A= (n.-40A=) | |
| X | g.48683814A>G | CA1132960287 | WAS | c.-34-6A>G (n.-34-6A>G) c.-40A>G (n.-40A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683814_48684018delinsACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCC | CA2428354141 | WAS | c.-34-6_132+33delinsACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCC c.-40_132+33delinsACCCAGAGCCTCGCCAGAGAAGACAAGGGCAGAAAGCACCATGAGTGGGGGCCCAATGGGAGGAAGGCCCGGGGGCCGAGGAGCACCAGCGGTTCAGCAGAACATACCCTCCACCCTCCTCCAGGACCACGAGAACCAGCGACTCTTTGAGATGCTTGGACGAAAATGCTTGGTGAGCTGGGGATCTCCTGCCCCCGCCCCGTCC | |
| X | g.48683817_48684020del | CA915951080 | WAS | c.-34-3_132+35del c.-37_132+35del | ClinVar dbSNP |
| X | g.48683817C= | CA2428354143 | WAS | c.-34-3C= (n.-34-3C=) c.-37C= (n.-37C=) | |
| X | g.48683817C>T | CA10403822 | WAS | c.-34-3C>T (n.-34-3C>T) c.-37C>T (n.-37C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48683818A>G | CA2693642833 | WAS | c.-34-2A>G (n.-34-2A>G) c.-36A>G (n.-36A>G) | gnomAD v4 |
| X | g.48683821G>C | CA2820814515 | WAS | n.1G>C c.-33G>C (n.-33G>C) n.3G>C | |
| X | g.48683822C= | CA2428354144 | WAS | n.2C= c.-32C= (n.-32C=) n.4C= | |
| X | g.48683822C>T | CA641510482 | WAS | n.2C>T c.-32C>T (n.-32C>T) n.4C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48683823C= | CA2428354145 | WAS | n.3C= c.-31C= (n.-31C=) n.5C= | |
| X | g.48683823C>T | CA10403823 | WAS | n.3C>T c.-31C>T (n.-31C>T) n.5C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683825C>A | CA2693642834 | WAS | n.5C>A c.-29C>A (n.-29C>A) n.7C>A | gnomAD v4 |
| X | g.48683825C>T | CA2579600563 | WAS | n.5C>T c.-29C>T (n.-29C>T) n.7C>T | gnomAD v4 |
| X | g.48683826G>A | CA10403824 | WAS | n.6G>A c.-28G>A (n.-28G>A) n.8G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683826G= | CA2428354146 | WAS | n.6G= c.-28G= (n.-28G=) n.8G= | |
| X | g.48683826G>T | CA2693642835 | WAS | n.6G>T c.-28G>T (n.-28G>T) n.8G>T | gnomAD v4 |
| X | g.48683828C= | CA2428354147 | WAS | n.8C= c.-26C= (n.-26C=) n.10C= n.1C= | |
| X | g.48683828C>T | CA641510489 | WAS | n.8C>T c.-26C>T (n.-26C>T) n.10C>T n.1C>T | dbSNP gnomAD v2 |
| X | g.48683828_48683829insTGCCGCGTGTGTTG | CA2572857406 | WAS | n.8_9insTGCCGCGTGTGTTG c.-26_-25insTGCCGCGTGTGTTG (n.-26_-25insTGCCGCGTGTGTTG) n.10_11insTGCCGCGTGTGTTG n.1_2insTGCCGCGTGTGTTG | |
| X | g.48683831A= | CA2428354148 | WAS | n.11A= c.-23A= (n.-23A=) n.13A= n.4A= | |
| X | g.48683831A>G | CA10403825 | WAS | n.11A>G c.-23A>G (n.-23A>G) n.13A>G n.4A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683832_48683833insGTGG | CA2560714780 | WAS | n.12_13insGTGG c.-22_-21insGTGG (n.-22_-21insGTGG) n.14_15insGTGG n.5_6insGTGG | |
| X | g.48683833A>G | CA2693642836 | WAS | n.13A>G c.-21A>G (n.-21A>G) n.15A>G n.6A>G | gnomAD v4 |
| X | g.48683836A= | CA2428354150 | WAS | n.16A= c.-18A= (n.-18A=) n.18A= n.9A= | |
| X | g.48683836A>C | CA2693642837 | WAS | n.16A>C c.-18A>C (n.-18A>C) n.18A>C n.9A>C | gnomAD v4 |
| X | g.48683836A>T | CA2428354149 | WAS | n.16A>T c.-18A>T (n.-18A>T) n.18A>T n.9A>T | dbSNP |
| X | g.48683837del | CA2820814518 | WAS | n.17del c.-17del (n.-17del) n.19del n.10del | |
| X | g.48683837C>A | CA10403826 | WAS | n.17C>A c.-17C>A (n.-17C>A) n.19C>A n.10C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683837C= | CA2428354151 | WAS | n.17C= c.-17C= (n.-17C=) n.19C= n.10C= | |
| X | g.48683837C>G | CA2428354152 | WAS | n.17C>G c.-17C>G (n.-17C>G) n.19C>G n.10C>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683837C>T | CA875913468 | WAS | n.17C>T c.-17C>T (n.-17C>T) n.19C>T n.10C>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683837_48683841del | CA2543919301 | WAS | n.17_21del c.-17_-13del (n.-17_-13del) n.19_23del n.10_14del | |
| X | g.48683841G>T | CA2579600564 | WAS | n.21G>T c.-13G>T (n.-13G>T) n.23G>T n.14G>T | |
| X | g.48683843C= | CA2428354153 | WAS | n.23C= c.-11C= (n.-11C=) n.25C= n.16C= | |
| X | g.48683843C>T | CA641510496 | WAS | n.23C>T c.-11C>T (n.-11C>T) n.25C>T n.16C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683844A= | CA2428354154 | WAS | n.24A= c.-10A= (n.-10A=) n.26A= n.17A= | |
| X | g.48683844A>C | CA10403827 | WAS | n.24A>C c.-10A>C (n.-10A>C) n.26A>C n.17A>C | dbSNP ExAC gnomAD v2 |
| X | g.48683844A>T | CA2533568583 | WAS | n.24A>T c.-10A>T (n.-10A>T) n.26A>T n.17A>T | |
| X | g.48683844_48683995del | CA1139532693 | WAS | n.24_165+10del c.-10_132+10del n.26_167+10del n.17_158+10del | |
| X | g.48683845G>T | CA2693642838 | WAS | n.25G>T c.-9G>T (n.-9G>T) n.27G>T n.18G>T | gnomAD v4 |
| X | g.48683847A>G | CA2560940408 | WAS | n.27A>G c.-7A>G (n.-7A>G) n.29A>G n.20A>G | |
| X | g.48683851del | CA2551081065 | WAS | n.31del c.-3del (n.-3del) n.33del n.24del | |
| X | g.48683852C>T | CA2820814520 | WAS | n.32C>T c.-2C>T (n.-2C>T) n.34C>T n.25C>T | |
| X | g.48683854del | CA2544846787 | WAS | n.34del c.1del (p.Met1Ter) n.36del n.27del | |
| X | g.48683854A= | CA2428354155 | WAS | n.34A= c.1A= (p.Met1=) n.36A= n.27A= | |
| X | g.48683854A>C | CA412864927 | WAS | n.34A>C c.1A>C (p.Met1Leu) n.36A>C n.27A>C | |
| X | g.48683854A>G | CA412864932 | WAS | n.34A>G c.1A>G (p.Met1Val) n.36A>G n.27A>G | |
| X | g.48683854A>T | CA341008 | WAS | n.34A>T c.1A>T (p.Met1Leu) n.36A>T n.27A>T | ClinVar dbSNP |
| X | g.48683855T>A | CA412864939 | WAS | n.35T>A c.2T>A (p.Met1Lys) n.37T>A n.28T>A | |
| X | g.48683855T>C | CA412864943 | WAS | n.35T>C c.2T>C (p.Met1Thr) n.37T>C n.28T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683855T>G | CA412864948 | WAS | n.35T>G c.2T>G (p.Met1Arg) n.37T>G n.28T>G | |
| X | g.48683855T= | CA2428354156 | WAS | n.35T= c.2T= (p.Met1=) n.37T= n.28T= | |
| X | g.48683856G>A | CA412864953 | WAS | n.36G>A c.3G>A (p.Met1Ile) n.38G>A n.29G>A | |
| X | g.48683856G>C | CA412864955 | WAS | n.36G>C c.3G>C (p.Met1Ile) n.38G>C n.29G>C | |
| X | g.48683856G>T | CA412864962 | WAS | n.36G>T c.3G>T (p.Met1Ile) n.38G>T n.29G>T | |
| X | g.48683857A>C | CA412864975 | WAS | n.37A>C c.4A>C (p.Ser2Arg) n.39A>C n.30A>C | |
| X | g.48683857A>G | CA412864972 | WAS | n.37A>G c.4A>G (p.Ser2Gly) n.39A>G n.30A>G | |
| X | g.48683857A>T | CA412864966 | WAS | n.37A>T c.4A>T (p.Ser2Cys) n.39A>T n.30A>T | |
| X | g.48683857_48683858insAATCC | CA2549879564 | WAS | n.37_38insAATCC c.4_5insAATCC (p.Ser2LysfsTer?) n.39_40insAATCC n.30_31insAATCC | |
| X | g.48683858G>A | CA412864981 | WAS | n.38G>A c.5G>A (p.Ser2Asn) n.40G>A n.31G>A | |
| X | g.48683858G>C | CA412864984 | WAS | n.38G>C c.5G>C (p.Ser2Thr) n.40G>C n.31G>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683858G= | CA2428354157 | WAS | n.38G= c.5G= (p.Ser2=) n.40G= n.31G= | |
| X | g.48683858G>T | CA412865006 | WAS | n.38G>T c.5G>T (p.Ser2Ile) n.40G>T n.31G>T | |
| X | g.48683859T>A | CA412865011 | WAS | n.39T>A c.6T>A (p.Ser2Arg) n.41T>A n.32T>A | gnomAD v4 |
| X | g.48683859T>C | CA516021723 | WAS | n.39T>C c.6T>C (p.Ser2=) n.41T>C n.32T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48683859T>G | CA412865017 | WAS | n.39T>G c.6T>G (p.Ser2Arg) n.41T>G n.32T>G | |
| X | g.48683859T= | CA2428354159 | WAS | n.39T= c.6T= (p.Ser2=) n.41T= n.32T= | |
| X | g.48683859_48683860delinsTG | CA2428354158 | WAS | n.39_40delinsTG c.6_7delinsTG (p.Ser2=) n.41_42delinsTG n.32_33delinsTG | |
| X | g.48683860G>A | CA412865023 | WAS | n.40G>A c.7G>A (p.Gly3Arg) n.42G>A n.33G>A | dbSNP |
| X | g.48683860G>C | CA412865027 | WAS | n.40G>C c.7G>C (p.Gly3Arg) n.42G>C n.33G>C | |
| X | g.48683860G= | CA2428354160 | WAS | n.40G= c.7G= (p.Gly3=) n.42G= n.33G= | |
| X | g.48683860G>T | CA412865032 | WAS | n.40G>T c.7G>T (p.Gly3Trp) n.42G>T n.33G>T | |
| X | g.48683864dup | CA2695233936 | WAS | n.44dup c.11dup (p.Met6AsnfsTer?) n.46dup n.37dup | |
| X | g.48683863_48683864dup | CA2695233937 | WAS | n.43_44dup c.10_11dup (p.Pro5AlafsTer?) n.45_46dup n.36_37dup | |
| X | g.48683864del | CA341015 | WAS | n.44del c.11del (p.Gly4AlafsTer?) n.46del n.37del | ClinVar dbSNP |
| X | g.48683861G>A | CA412865039 | WAS | n.41G>A c.8G>A (p.Gly3Glu) n.43G>A n.34G>A | |
| X | g.48683861G>C | CA412865043 | WAS | n.41G>C c.8G>C (p.Gly3Ala) n.43G>C n.34G>C | gnomAD v4 |
| X | g.48683861G>T | CA412865046 | WAS | n.41G>T c.8G>T (p.Gly3Val) n.43G>T n.34G>T | |
| X | g.48683862G>A | CA516021724 | WAS | n.42G>A c.9G>A (p.Gly3=) n.44G>A n.35G>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683862G>C | CA516021725 | WAS | n.42G>C c.9G>C (p.Gly3=) n.44G>C n.35G>C | |
| X | g.48683862G= | CA2428354161 | WAS | n.42G= c.9G= (p.Gly3=) n.44G= n.35G= | |
| X | g.48683862G>T | CA10403828 | WAS | n.42G>T c.9G>T (p.Gly3=) n.44G>T n.35G>T | dbSNP ExAC |
| X | g.48683863G>A | CA412865064 | WAS | n.43G>A c.10G>A (p.Gly4Ser) n.45G>A n.36G>A | |
| X | g.48683863G>C | CA412865061 | WAS | n.43G>C c.10G>C (p.Gly4Arg) n.45G>C n.36G>C | |
| X | g.48683863G>T | CA412865067 | WAS | n.43G>T c.10G>T (p.Gly4Cys) n.45G>T n.36G>T |