UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48681722_48688043delinsTGAAGAGACTCCAGTGAATCCTCACTGCCCTTCCTTCCCTCCCTTCATAGTGAAACCCTCTTGCCCTCTCCTGCCCAAAGAGACTCTGAGGGGCCAGAATTAATGAATGAGACTGAATGAGTGAATGAGTATAGGCAGGAGTTATGGAATTAGAAGGGCTCCATAGTTTGTGGTGCTGATCCATCCACCCATCCCTCTTTCCCCATCTATCCCATGCATTTGTCCACCTATTCATTCACATTCATCTGTTGGACTACTGATCTGTCCATACATCTGTCTCTGCAACTATCTGCCCACATATGTCTGTTCACCCATTTGTCCACCAGTCTGTCCTCACACACACTTGTCCATCCACCCATCCACCTACCCATGTGCCCACCTTTCCATCTATCCATCCACTCATTTTTCTACCCATGCAACCACACACTTCTGTTCACTTATCCATTGAACTGTCCATTCATCCACGTATCTGTCCACCTGTCCATCCCCATCCACCTTGTCTGTGAGCCAATCAGCCTGCATATCAATCTGTCCACACACCTATCCACTCACCCATCTATCTATCCACGCACCTCCCATCAACCCATCCACCCATAAACTTGTCCATCCAACCACTTATCCATTCATTCTTCAACCCATTCATTCATCCATTCATTTATCCATCCATCCACCCATCCACTCACCCACCTACCCACCAGCCCTTCTCATCCATCATCTACCTCATCTATCTATCCATTTGTTCACCTGCCCACCCACCTGCTCTCCTAACAGCCCACCCAGAGTGGGCCCAGGGTGAGGCAAGTAAGGTGCCTAGGGTGCAAAATTTAAGTGAGTCACTCACTCTGAGAGTCAGGAATTACAGTTGCATGCCTCTGAGAGTGAGTGCCTCCTTAAATTTTGTACCCTTGGTGCCTTATTTACCTCTCCCTAGACCCAGCCCTGCACCTACCTATCCAACCACCCATTTACCCACTCAGCCACCCAGCCATCTGCCCATCTGCCCATCCTTCCATTCACTCAGCTGTCCACTTGTTCATGTGCCCCTCTGCCCCCAGGAATCTGTGGGTCCACTGGGGAGTGGCTCTCACTTGAATCCACTGGGTGCACCAATATCAGCTTTGCTGATCTTCTTCTTCCCTGAGCGTTTCTTATCAGCTGGGCTAGGTCCAGGTGCTGGGAGCCCACGGTATCGTGAACTCGTGATGTCAGGGTTCTGGATGTCCACTGTCGCCAGCCCCAGGGAGAGCGGACCCACTGGAGGGCCTGTGGGGAAAATAGGGTGGTTGGCTCATTGACCCACTTACCAACCAACCAAAGCACAGGGGCAAGAAACGGAAGCCTTGAGGGAAATCTGTGTGTGTGTTGGATGGTCATGGAGGTAGTGGGTGAAGGGTTCAAGTAGGGTCTATGGAGAAGTGGGTGGATCCCACAAACCATTCATACATTCACTGATTCATTCATGTTTTCATTCCCTCATGCTTTATCATTCACTGGCTCATTGACTAATGAATTTGTTAAAATATTCATTTACTCATTTATTCATTCAATCATGCTTTCTTCACTGACTGAAACTTGTCATTTAGTCATTTATTCACTGTTCATTCATTCACTCATTGATTAATTTACTCAGTCATCCATCTACCTTTTCATTCATTTATCCACATACCCATTCACCTATGCATCTATCTACTTAGACTTTCATCCTCCCATCAATTCATCCCTCTACTCAGCCATCTACCGCCAATCCATCCACCCATCCATCAGTCCACACATCCATGCACCTGCTCGTCCATCCACATACCTATCAATCTACCTATCCATTCACCCACTTACGCACCCATCCAACTCCTCATTCCTCCATCCACTCTTACCCATCCATCCAGAGACACAGGGAAGAATCAGCACGCACCTCCTTGGTCTCCACCTGGATGCAGGGGCAGGGGTGGGAGCCCTCCTCTTCTCTCTGGGAAGATGGAATGTGTAGAGAGTTATCACAGCCCTGCCACAGGTTCCTGGGCTAGCCCCTTATTACCCCTACTTGCACTAGAGGACTCACCTTCATTGGCTGGTGTTGGTGGTGGGGGTAGCTGGCGTCTGTCTGTGGATAGATGGATTGGGAGCCAGGACCATGAGAGGGGACTTTTCTAGTTCCCCAGGCTTGCACTCACCTCTGCCCAACTTCCTTTCCTCCCCTGTGGCCTCCTCACCTCCACTTTGCCTCTGATTCCTTTTTTGTATCTTCTCCTGCACGAGGGCCCGGAAGGCCTGGGCCTCGTCCTCGTCTGCAAAGTTCAGCCCCGCTTGGCAGTCCTGCACATACCTTGGGGTCAGCCGCCTCCCAGGTCCCCCGCAACTTTCCCATCTCCTCTCCACACCCCAAGTGAGGCCCGAGGGCTGGTTGATCACTTACATCTCCAGCGAAGGTGTGGAAGAAGGGGGTGGGGGTGGAGTAGACAAGCTGTGAGTACAGCTCCTGTTCCCAGAGCAGCCGACCAGCCTGGAGAGGTGTAGGGTGGGAGGCACAGTGGCACTGAGGCACGCCGGGGGTGGCAGGCTTTTGTTAGCTGGGCAGGGAGCAGGGTGTCTGGATTTGGGAGCCTCATAGTCTGGTTTGGAGATTTTCAGCTCAGCACCAGAGAGTTGGTGTCTAAGGGTGTGGATTGTGGGGTATAGTCTGGGAGCCATACACTTTTGTGAGAGGTTTGGATTTGGGGTTTGGGGCCCTAGATCTGGGACTTGGGGGCTTGAATTTCATAATTTAGGACTCTAGTCTTAGGAAGTTGAGGCTCATTCACAGATTCAATCCATGCCCTCCCCCACCACCCCAGCCCCAATTCATGACAGGTAGGATTCTAGTATTTGGGGGTTGGAGTTGAGATTTGAAGTTCAGACACATAGACTTGGGAGTTTCGCGGGGAGTCCAGCTAAAGTAAGTGCAATTTGGGGTTTGTGGAGAGAGTTATGGTTTAGGAGTTTGGTGGATATTTGATAGCCTTGGGATCTGGAAGTTATGCTGGGTCCATCTTTATGGGTTTAAAAGGATGAATTTGGGGCTTAAACCTAGAAAGTTCAGGTCAGGGGATTGTGGAAAAGACTTTTTGCTTAAGAACTACCTCGGTATTTGAGTGTTCAGGAATTTTAATATGGGAACTCTGGGGTCTGTGCTGTGGATTTAGAAGGACAGATTTGGAGTTCAAGGATCAATGGAATATTCAACTTTGGGGTTTGTTGAACAGATTTATGACTTAGGAGCTTGGCAAACATCTGGGGTTCAGGAGTTTTGATGAGAGATTCCTGGGATGCAAAATGTTGAGTTTAGAATAGATTTGAGGTTCAGGTACAAATACAGTGCTCATTTATTGGAATTTGTGGAAAAGATTAGGCTTAGGCAGCAGACTAATACTGGGGGCTTTAGAGATCTTGATACGGAGACTGGGGCCAGTCATTGCAGACTTAGAAAGGCAAGTCAGAGTTTGCCATCTGGATGAGTCTTTGGTTCTGGGGCTCAGGGATTCACTGATCAGGTCTGAGGTCTTGAAGCTATGGACACATATGGACACAGATCTGGGTTTGCGGGTTGAGAACTGGCTTGCAAGTCCAGTCGGGGGTGGGGGGGTCACCTGAAGGCCGTAAAGGCGGATGAAGTAGGACTTCTGGGGGTTATCCTTCACGAAGCACACAGCCCCACAATGCTCCTTGGTCCAGTGCTCAGCTCCAGGGGGCAGCGCCAGGTACAGCTGAACAACTGCAGTGGCCAGCGTCTGGGAGAGGAAAGCAGGGGTCAGTGGAGTCTGGTCAGGGGTAGCCACAAGGTCTTGGAGCCAGACCTGGTCCTTCCTGCCTCATGACAGTCATGGGCCCAAAGGAAGAGCTGCAGCCAGAGGGAAGGCAAGTAGACATTGAGATCTTCCTGGGAAGGGTGGATTATGACGGGAAATTCTAGGAGAGGAGATGATGGAGAGGGAAAGGAGGAGCGGGAGGAGGGGAAGAGAGAGAAGGAGGAGAGGAAGAGGAAGAAACGGTGGGGACGGGGCGGGGGCAGGAGATCCCCAGCTCACCAAGCATTTTCGTCCAAGCATCTCAAAGAGTCGCTGGTTCTCGTGGTCCTGGAGGAGGGTGGAGGGTATGTTCTGCTGAACCGCTGGTGCTCCTCGGCCCCCGGGCCTTCCTCCCATTGGGCCCCCACTCATGGTGCTTTCTGCCCTTGTCTTCTCTGGCGAGGCTCTGGGTGCAGGGTAAGAAGAGGAACTTCCGCAATGAGCAGCAAGGGAACAGGAAATGCAAAAAACCACAAGGGACAAGGGAAACAAGTCCTCCAGGGGCCCCTTGGTGGGCCTGGCCTCCTCGTTAGGCTGAGCTTGGGCCCTCCGCCATCAGATTGGAACCCTCCTCCACTTGACTGCTTAGACCCACCTTTTGGATCAGCTTGGGTCCTCCTCCCCCTTTCTTACTCTCTGGGGCCCATCTCCTTCTGACTGGCTCAGACCCTCCTCCCTCTGGCTGGCAGCGAGAGCTTAGCACATCTGTGTGCAGGGCTCCCTGTGGCAAGGAGTAGTCATGGGCCTGGGTGGCCTCCTTTCTAAAGCACCTAGGTAGCCTGAGGCTGAGGCCCGAGGTCCCTAGTCCGGAAGGGTTACTACAGTAAAACTTTTCCTTTTGGCTGGGGACAATAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGAGTGGATCACTTGAGGTCAGGAGTTCAAGACGAGCCTGGGCAACATGGCAAAACCCCATTTCCACTAAAAAATACAAAAATTAGCCAGGCATGGTGGCACACACCTGTAGTCCTAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGACTGCACCACTGCACTCCAGCCTGGATGATGACAGAGCAAGACCCTTGTCTCAAAAACAGCAACAACAACAACACAACAAAAACCCTTTTCCTTTTAATTACAGAGCGAGCCCCTGTGATCCACGCCTATCGTGAGTGCTTAGACACTGCCAATGACGCATATGCCTCTGGTCCACTTCCCCATCCCTTACCCTTGCCTCCCCGCAGCTCCCAAATTACTTTCTGCTTGTCATACTTTTTTTTTTCTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCGGTGGCACGATCTCGGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATTTCTCGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTATTAGAATTACAGGCGTGAGCCACCGTGCCCAGCCCATCCCTTTTTTAAAGAAAGGAACTTTATATCATATATGAATGCCTGAACAACATCTTGTTTAGTTTTCATTGCACTTGAAGTTTGTAAAAGCACATAATCTTCAAAGGCTTGCTTTCTCCCCACTGGACATCCTAGTTTTATCTTAACACTCACATAGCACTTAACGTGTGTGCCAGTCACTGTTCTGACCCCTTTGCCCGGAGTGCGAGCCAGGCAGGCCAGGTGTGAGTGCATGGTCTCGTCCCTCCACGCCTTCACTCTTGGCTGTTGCTGTGATTCCTGTTTGCCTATAGTGGTAGCTGTTCATTTATTTCCACTGCCATACAGCATTCCATGGTGTGCATGTGCAGCCTGGGTGTCCATATTCTCCTGTAACAGCCCTTTGGGCTGCTTCTGGTTCTTGCTGTTGGGAGCAACACTGCAGTGTTCACTCCCGCACACATCTCCTGGTCCACATAGGCATGCAGACTCTCAGACGGGAATCTGAGGGCTGTAGGGTTTGCATGTCTCTAACTTCTCCAGATGATGCCAGACTATTTCCACAAGTGAATGCTAGCTCAGTCCCCGGCCTCCCCAGGCCTCAGTTTCCCCATGTATGAGGTAGGCCATTTGGAGACTTGAAGCTCTCAGATACAGGAACAGCAGTTTGGGGGAGCTGAGCAGGTCTGGGGTGTGACTGACATTCCCAGGTACCTGAAGGAGGAACGGCACATCTCCAGTTGGGACCTGCAGTCCTTCCTGGAAACTTCCATGGCTTCCCACACGTGCAGGTTCAAAGCCTCTCTCCTGAACCTAGGTTCAGAACCCCTTCTGCAGTGGCAGTTCCAACCTCCCTCCCGTGTCCCCACTCACAGCTAAGCTTCGGGCCTGGAGCACCTCCAACCTGCTG | CA915951079 | WAS | c.-34-2098_735-11delinsTGAAGAGACTCCAGTGAATCCTCACTGCCCTTCCTTCCCTCCCTTCATAGTGAAACCCTCTTGCCCTCTCCTGCCCAAAGAGACTCTGAGGGGCCAGAATTAATGAATGAGACTGAATGAGTGAATGAGTATAGGCAGGAGTTATGGAATTAGAAGGGCTCCATAGTTTGTGGTGCTGATCCATCCACCCATCCCTCTTTCCCCATCTATCCCATGCATTTGTCCACCTATTCATTCACATTCATCTGTTGGACTACTGATCTGTCCATACATCTGTCTCTGCAACTATCTGCCCACATATGTCTGTTCACCCATTTGTCCACCAGTCTGTCCTCACACACACTTGTCCATCCACCCATCCACCTACCCATGTGCCCACCTTTCCATCTATCCATCCACTCATTTTTCTACCCATGCAACCACACACTTCTGTTCACTTATCCATTGAACTGTCCATTCATCCACGTATCTGTCCACCTGTCCATCCCCATCCACCTTGTCTGTGAGCCAATCAGCCTGCATATCAATCTGTCCACACACCTATCCACTCACCCATCTATCTATCCACGCACCTCCCATCAACCCATCCACCCATAAACTTGTCCATCCAACCACTTATCCATTCATTCTTCAACCCATTCATTCATCCATTCATTTATCCATCCATCCACCCATCCACTCACCCACCTACCCACCAGCCCTTCTCATCCATCATCTACCTCATCTATCTATCCATTTGTTCACCTGCCCACCCACCTGCTCTCCTAACAGCCCACCCAGAGTGGGCCCAGGGTGAGGCAAGTAAGGTGCCTAGGGTGCAAAATTTAAGTGAGTCACTCACTCTGAGAGTCAGGAATTACAGTTGCATGCCTCTGAGAGTGAGTGCCTCCTTAAATTTTGTACCCTTGGTGCCTTATTTACCTCTCCCTAGACCCAGCCCTGCACCTACCTATCCAACCACCCATTTACCCACTCAGCCACCCAGCCATCTGCCCATCTGCCCATCCTTCCATTCACTCAGCTGTCCACTTGTTCATGTGCCCCTCTGCCCCCAGGAATCTGTGGGTCCACTGGGGAGTGGCTCTCACTTGAATCCACTGGGTGCACCAATATCAGCTTTGCTGATCTTCTTCTTCCCTGAGCGTTTCTTATCAGCTGGGCTAGGTCCAGGTGCTGGGAGCCCACGGTATCGTGAACTCGTGATGTCAGGGTTCTGGATGTCCACTGTCGCCAGCCCCAGGGAGAGCGGACCCACTGGAGGGCCTGTGGGGAAAATAGGGTGGTTGGCTCATTGACCCACTTACCAACCAACCAAAGCACAGGGGCAAGAAACGGAAGCCTTGAGGGAAATCTGTGTGTGTGTTGGATGGTCATGGAGGTAGTGGGTGAAGGGTTCAAGTAGGGTCTATGGAGAAGTGGGTGGATCCCACAAACCATTCATACATTCACTGATTCATTCATGTTTTCATTCCCTCATGCTTTATCATTCACTGGCTCATTGACTAATGAATTTGTTAAAATATTCATTTACTCATTTATTCATTCAATCATGCTTTCTTCACTGACTGAAACTTGTCATTTAGTCATTTATTCACTGTTCATTCATTCACTCATTGATTAATTTACTCAGTCATCCATCTACCTTTTCATTCATTTATCCACATACCCATTCACCTATGCATCTATCTACTTAGACTTTCATCCTCCCATCAATTCATCCCTCTACTCAGCCATCTACCGCCAATCCATCCACCCATCCATCAGTCCACACATCCATGCACCTGCTCGTCCATCCACATACCTATCAATCTACCTATCCATTCACCCACTTACGCACCCATCCAACTCCTCATTCCTCCATCCACTCTTACCCATCCATCCAGAGACACAGGGAAGAATCAGCACGCACCTCCTTGGTCTCCACCTGGATGCAGGGGCAGGGGTGGGAGCCCTCCTCTTCTCTCTGGGAAGATGGAATGTGTAGAGAGTTATCACAGCCCTGCCACAGGTTCCTGGGCTAGCCCCTTATTACCCCTACTTGCACTAGAGGACTCACCTTCATTGGCTGGTGTTGGTGGTGGGGGTAGCTGGCGTCTGTCTGTGGATAGATGGATTGGGAGCCAGGACCATGAGAGGGGACTTTTCTAGTTCCCCAGGCTTGCACTCACCTCTGCCCAACTTCCTTTCCTCCCCTGTGGCCTCCTCACCTCCACTTTGCCTCTGATTCCTTTTTTGTATCTTCTCCTGCACGAGGGCCCGGAAGGCCTGGGCCTCGTCCTCGTCTGCAAAGTTCAGCCCCGCTTGGCAGTCCTGCACATACCTTGGGGTCAGCCGCCTCCCAGGTCCCCCGCAACTTTCCCATCTCCTCTCCACACCCCAAGTGAGGCCCGAGGGCTGGTTGATCACTTACATCTCCAGCGAAGGTGTGGAAGAAGGGGGTGGGGGTGGAGTAGACAAGCTGTGAGTACAGCTCCTGTTCCCAGAGCAGCCGACCAGCCTGGAGAGGTGTAGGGTGGGAGGCACAGTGGCACTGAGGCACGCCGGGGGTGGCAGGCTTTTGTTAGCTGGGCAGGGAGCAGGGTGTCTGGATTTGGGAGCCTCATAGTCTGGTTTGGAGATTTTCAGCTCAGCACCAGAGAGTTGGTGTCTAAGGGTGTGGATTGTGGGGTATAGTCTGGGAGCCATACACTTTTGTGAGAGGTTTGGATTTGGGGTTTGGGGCCCTAGATCTGGGACTTGGGGGCTTGAATTTCATAATTTAGGACTCTAGTCTTAGGAAGTTGAGGCTCATTCACAGATTCAATCCATGCCCTCCCCCACCACCCCAGCCCCAATTCATGACAGGTAGGATTCTAGTATTTGGGGGTTGGAGTTGAGATTTGAAGTTCAGACACATAGACTTGGGAGTTTCGCGGGGAGTCCAGCTAAAGTAAGTGCAATTTGGGGTTTGTGGAGAGAGTTATGGTTTAGGAGTTTGGTGGATATTTGATAGCCTTGGGATCTGGAAGTTATGCTGGGTCCATCTTTATGGGTTTAAAAGGATGAATTTGGGGCTTAAACCTAGAAAGTTCAGGTCAGGGGATTGTGGAAAAGACTTTTTGCTTAAGAACTACCTCGGTATTTGAGTGTTCAGGAATTTTAATATGGGAACTCTGGGGTCTGTGCTGTGGATTTAGAAGGACAGATTTGGAGTTCAAGGATCAATGGAATATTCAACTTTGGGGTTTGTTGAACAGATTTATGACTTAGGAGCTTGGCAAACATCTGGGGTTCAGGAGTTTTGATGAGAGATTCCTGGGATGCAAAATGTTGAGTTTAGAATAGATTTGAGGTTCAGGTACAAATACAGTGCTCATTTATTGGAATTTGTGGAAAAGATTAGGCTTAGGCAGCAGACTAATACTGGGGGCTTTAGAGATCTTGATACGGAGACTGGGGCCAGTCATTGCAGACTTAGAAAGGCAAGTCAGAGTTTGCCATCTGGATGAGTCTTTGGTTCTGGGGCTCAGGGATTCACTGATCAGGTCTGAGGTCTTGAAGCTATGGACACATATGGACACAGATCTGGGTTTGCGGGTTGAGAACTGGCTTGCAAGTCCAGTCGGGGGTGGGGGGGTCACCTGAAGGCCGTAAAGGCGGATGAAGTAGGACTTCTGGGGGTTATCCTTCACGAAGCACACAGCCCCACAATGCTCCTTGGTCCAGTGCTCAGCTCCAGGGGGCAGCGCCAGGTACAGCTGAACAACTGCAGTGGCCAGCGTCTGGGAGAGGAAAGCAGGGGTCAGTGGAGTCTGGTCAGGGGTAGCCACAAGGTCTTGGAGCCAGACCTGGTCCTTCCTGCCTCATGACAGTCATGGGCCCAAAGGAAGAGCTGCAGCCAGAGGGAAGGCAAGTAGACATTGAGATCTTCCTGGGAAGGGTGGATTATGACGGGAAATTCTAGGAGAGGAGATGATGGAGAGGGAAAGGAGGAGCGGGAGGAGGGGAAGAGAGAGAAGGAGGAGAGGAAGAGGAAGAAACGGTGGGGACGGGGCGGGGGCAGGAGATCCCCAGCTCACCAAGCATTTTCGTCCAAGCATCTCAAAGAGTCGCTGGTTCTCGTGGTCCTGGAGGAGGGTGGAGGGTATGTTCTGCTGAACCGCTGGTGCTCCTCGGCCCCCGGGCCTTCCTCCCATTGGGCCCCCACTCATGGTGCTTTCTGCCCTTGTCTTCTCTGGCGAGGCTCTGGGTGCAGGGTAAGAAGAGGAACTTCCGCAATGAGCAGCAAGGGAACAGGAAATGCAAAAAACCACAAGGGACAAGGGAAACAAGTCCTCCAGGGGCCCCTTGGTGGGCCTGGCCTCCTCGTTAGGCTGAGCTTGGGCCCTCCGCCATCAGATTGGAACCCTCCTCCACTTGACTGCTTAGACCCACCTTTTGGATCAGCTTGGGTCCTCCTCCCCCTTTCTTACTCTCTGGGGCCCATCTCCTTCTGACTGGCTCAGACCCTCCTCCCTCTGGCTGGCAGCGAGAGCTTAGCACATCTGTGTGCAGGGCTCCCTGTGGCAAGGAGTAGTCATGGGCCTGGGTGGCCTCCTTTCTAAAGCACCTAGGTAGCCTGAGGCTGAGGCCCGAGGTCCCTAGTCCGGAAGGGTTACTACAGTAAAACTTTTCCTTTTGGCTGGGGACAATAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGAGTGGATCACTTGAGGTCAGGAGTTCAAGACGAGCCTGGGCAACATGGCAAAACCCCATTTCCACTAAAAAATACAAAAATTAGCCAGGCATGGTGGCACACACCTGTAGTCCTAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGACTGCACCACTGCACTCCAGCCTGGATGATGACAGAGCAAGACCCTTGTCTCAAAAACAGCAACAACAACAACACAACAAAAACCCTTTTCCTTTTAATTACAGAGCGAGCCCCTGTGATCCACGCCTATCGTGAGTGCTTAGACACTGCCAATGACGCATATGCCTCTGGTCCACTTCCCCATCCCTTACCCTTGCCTCCCCGCAGCTCCCAAATTACTTTCTGCTTGTCATACTTTTTTTTTTCTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCGGTGGCACGATCTCGGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATTTCTCGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTATTAGAATTACAGGCGTGAGCCACCGTGCCCAGCCCATCCCTTTTTTAAAGAAAGGAACTTTATATCATATATGAATGCCTGAACAACATCTTGTTTAGTTTTCATTGCACTTGAAGTTTGTAAAAGCACATAATCTTCAAAGGCTTGCTTTCTCCCCACTGGACATCCTAGTTTTATCTTAACACTCACATAGCACTTAACGTGTGTGCCAGTCACTGTTCTGACCCCTTTGCCCGGAGTGCGAGCCAGGCAGGCCAGGTGTGAGTGCATGGTCTCGTCCCTCCACGCCTTCACTCTTGGCTGTTGCTGTGATTCCTGTTTGCCTATAGTGGTAGCTGTTCATTTATTTCCACTGCCATACAGCATTCCATGGTGTGCATGTGCAGCCTGGGTGTCCATATTCTCCTGTAACAGCCCTTTGGGCTGCTTCTGGTTCTTGCTGTTGGGAGCAACACTGCAGTGTTCACTCCCGCACACATCTCCTGGTCCACATAGGCATGCAGACTCTCAGACGGGAATCTGAGGGCTGTAGGGTTTGCATGTCTCTAACTTCTCCAGATGATGCCAGACTATTTCCACAAGTGAATGCTAGCTCAGTCCCCGGCCTCCCCAGGCCTCAGTTTCCCCATGTATGAGGTAGGCCATTTGGAGACTTGAAGCTCTCAGATACAGGAACAGCAGTTTGGGGGAGCTGAGCAGGTCTGGGGTGTGACTGACATTCCCAGGTACCTGAAGGAGGAACGGCACATCTCCAGTTGGGACCTGCAGTCCTTCCTGGAAACTTCCATGGCTTCCCACACGTGCAGGTTCAAAGCCTCTCTCCTGAACCTAGGTTCAGAACCCCTTCTGCAGTGGCAGTTCCAACCTCCCTCCCGTGTCCCCACTCACAGCTAAGCTTCGGGCCTGGAGCACCTCCAACCTGCTG | ClinVar |
| X | g.48684302T>A | CA412866146 | WAS | n.185T>A c.152T>A (p.Val51Asp) n.187T>A n.178T>A | |
| X | g.48684302T>C | CA412866148 | WAS | n.185T>C c.152T>C (p.Val51Ala) n.187T>C n.178T>C | |
| X | g.48684302T>G | CA412866151 | WAS | n.185T>G c.152T>G (p.Val51Gly) n.187T>G n.178T>G | |
| X | g.48684302_48684312del | CA2695233959 | WAS | n.185_195del c.152_162del (p.Val51AlafsTer8) n.187_197del n.178_188del | |
| X | g.48684303T>A | CA516022575 | WAS | n.186T>A c.153T>A (p.Val51=) n.188T>A n.179T>A | |
| X | g.48684303T>C | CA516022576 | WAS | n.186T>C c.153T>C (p.Val51=) n.188T>C n.179T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48684303T>G | CA516022577 | WAS | n.186T>G c.153T>G (p.Val51=) n.188T>G n.179T>G | |
| X | g.48684303T= | CA2428354309 | WAS | n.186T= c.153T= (p.Val51=) n.188T= n.179T= | |
| X | g.48684304C>A | CA412866160 | WAS | n.187C>A c.154C>A (p.Gln52Lys) n.189C>A n.180C>A | |
| X | g.48684304C>G | CA412866157 | WAS | n.187C>G c.154C>G (p.Gln52Glu) n.189C>G n.180C>G | |
| X | g.48684304C>T | CA412866155 | WAS | n.187C>T c.154C>T (p.Gln52Ter) n.189C>T n.180C>T | |
| X | g.48684305A>C | CA412866163 | WAS | n.188A>C c.155A>C (p.Gln52Pro) n.190A>C n.181A>C | |
| X | g.48684305A>G | CA412866166 | WAS | n.188A>G c.155A>G (p.Gln52Arg) n.190A>G n.181A>G | |
| X | g.48684305A>T | CA412866167 | WAS | n.188A>T c.155A>T (p.Gln52Leu) n.190A>T n.181A>T | |
| X | g.48684306G>A | CA516022578 | WAS | n.189G>A c.156G>A (p.Gln52=) n.191G>A n.182G>A | |
| X | g.48684306G>C | CA412866170 | WAS | n.189G>C c.156G>C (p.Gln52His) n.191G>C n.182G>C | ClinVar |
| X | g.48684306G>T | CA412866171 | WAS | n.189G>T c.156G>T (p.Gln52His) n.191G>T n.182G>T | |
| X | g.48684307C>A | CA412866175 | WAS | n.190C>A c.157C>A (p.Leu53Met) n.192C>A n.183C>A | |
| X | g.48684307C>G | CA412866177 | WAS | n.190C>G c.157C>G (p.Leu53Val) n.192C>G n.183C>G | |
| X | g.48684307C>T | CA516022579 | WAS | n.190C>T c.157C>T (p.Leu53=) n.192C>T n.183C>T | |
| X | g.48684310_48684315del | CA2695233960 | WAS | n.193_198del c.160_165del (p.Tyr54_Leu55del) n.195_200del n.186_191del | |
| X | g.48684308T>A | CA412866181 | WAS | n.191T>A c.158T>A (p.Leu53Gln) n.193T>A n.184T>A | |
| X | g.48684308T>C | CA412866183 | WAS | n.191T>C c.158T>C (p.Leu53Pro) n.193T>C n.184T>C | |
| X | g.48684308T>G | CA412866186 | WAS | n.191T>G c.158T>G (p.Leu53Arg) n.193T>G n.184T>G | |
| X | g.48684309G>A | CA10403867 | WAS | n.192G>A c.159G>A (p.Leu53=) n.194G>A n.185G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48684309G>C | CA516022581 | WAS | n.192G>C c.159G>C (p.Leu53=) n.194G>C n.185G>C | ClinVar dbSNP |
| X | g.48684309G= | CA2428354310 | WAS | n.192G= c.159G= (p.Leu53=) n.194G= n.185G= | |
| X | g.48684309G>T | CA516022582 | WAS | n.192G>T c.159G>T (p.Leu53=) n.194G>T n.185G>T | |
| X | g.48684309_48684314delinsGTACCT | CA2428354311 | WAS | n.192_197delinsGTACCT c.159_164delinsGTACCT (p.Leu53=) n.194_199delinsGTACCT n.185_190delinsGTACCT | |
| X | g.48684310T>A | CA412866189 | WAS | n.193T>A c.160T>A (p.Tyr54Asn) n.195T>A n.186T>A | |
| X | g.48684310T>C | CA412866191 | WAS | n.193T>C c.160T>C (p.Tyr54His) n.195T>C n.186T>C | |
| X | g.48684310T>G | CA412866193 | WAS | n.193T>G c.160T>G (p.Tyr54Asp) n.195T>G n.186T>G | |
| X | g.48684310_48684314delinsAACCTGGCGCTGCCCCC | CA658658984 | WAS | n.193_197delinsAACCTGGCGCTGCCCCC c.160_164delinsAACCTGGCGCTGCCCCC (p.Tyr54_Leu55delinsAsnLeuAlaLeuProPro) n.195_199delinsAACCTGGCGCTGCCCCC n.186_190delinsAACCTGGCGCTGCCCCC | ClinVar dbSNP |
| X | g.48684311A>C | CA412866198 | WAS | n.194A>C c.161A>C (p.Tyr54Ser) n.196A>C n.187A>C | |
| X | g.48684311A>G | CA412866200 | WAS | n.194A>G c.161A>G (p.Tyr54Cys) n.196A>G n.187A>G | |
| X | g.48684311A>T | CA412866196 | WAS | n.194A>T c.161A>T (p.Tyr54Phe) n.196A>T n.187A>T | |
| X | g.48684312C>A | CA412866203 | WAS | n.195C>A c.162C>A (p.Tyr54Ter) n.197C>A n.188C>A | |
| X | g.48684312C>G | CA412866206 | WAS | n.195C>G c.162C>G (p.Tyr54Ter) n.197C>G n.188C>G | |
| X | g.48684312C>T | CA516022583 | WAS | n.195C>T c.162C>T (p.Tyr54=) n.197C>T n.188C>T | gnomAD v4 COSMIC |
| X | g.48684317_48684329del | CA2695233961 | WAS | n.200_212del c.167_179del (p.Ala56GlufsTer16) n.202_214del n.193_205del | |
| X | g.48684313C>A | CA412866209 | WAS | n.196C>A c.163C>A (p.Leu55Met) n.198C>A n.189C>A | |
| X | g.48684313C>G | CA412866212 | WAS | n.196C>G c.163C>G (p.Leu55Val) n.198C>G n.189C>G | |
| X | g.48684313C>T | CA516022584 | WAS | n.196C>T c.163C>T (p.Leu55=) n.198C>T n.189C>T | |
| X | g.48684314T>A | CA412866216 | WAS | n.197T>A c.164T>A (p.Leu55Gln) n.199T>A n.190T>A | |
| X | g.48684314T>C | CA412866218 | WAS | n.197T>C c.164T>C (p.Leu55Pro) n.199T>C n.190T>C | ClinVar dbSNP |
| X | g.48684314T>G | CA412866220 | WAS | n.197T>G c.164T>G (p.Leu55Arg) n.199T>G n.190T>G | |
| X | g.48684314T= | CA2428354312 | WAS | n.197T= c.164T= (p.Leu55=) n.199T= n.190T= | |
| X | g.48684315G>A | CA516022585 | WAS | n.198G>A c.165G>A (p.Leu55=) n.200G>A n.191G>A | |
| X | g.48684315G>C | CA516022586 | WAS | n.198G>C c.165G>C (p.Leu55=) n.200G>C n.191G>C | |
| X | g.48684315G>T | CA516022587 | WAS | n.198G>T c.165G>T (p.Leu55=) n.200G>T n.191G>T | |
| X | g.48684316G>A | CA412866225 | WAS | n.199G>A c.166G>A (p.Ala56Thr) n.201G>A n.192G>A | |
| X | g.48684316G>C | CA412866227 | WAS | n.199G>C c.166G>C (p.Ala56Pro) n.201G>C n.192G>C | |
| X | g.48684316G>T | CA412866230 | WAS | n.199G>T c.166G>T (p.Ala56Ser) n.201G>T n.192G>T | |
| X | g.48684317C>A | CA412866232 | WAS | n.200C>A c.167C>A (p.Ala56Glu) n.202C>A n.193C>A | |
| X | g.48684317C= | CA2428354313 | WAS | n.200C= c.167C= (p.Ala56=) n.202C= n.193C= | |
| X | g.48684317C>G | CA412866235 | WAS | n.200C>G c.167C>G (p.Ala56Gly) n.202C>G n.193C>G | |
| X | g.48684317C>T | CA255723 | WAS | n.200C>T c.167C>T (p.Ala56Val) n.202C>T n.193C>T | ClinVar dbSNP COSMIC |
| X | g.48684318G>A | CA329100228 | WAS | n.201G>A c.168G>A (p.Ala56=) n.203G>A n.194G>A | ClinVar dbSNP gnomAD v4 |
| X | g.48684318G>C | CA516022590 | WAS | n.201G>C c.168G>C (p.Ala56=) n.203G>C n.194G>C | |
| X | g.48684318G= | CA2428354314 | WAS | n.201G= c.168G= (p.Ala56=) n.203G= n.194G= | |
| X | g.48684318G>T | CA516022589 | WAS | n.201G>T c.168G>T (p.Ala56=) n.203G>T n.194G>T | |
| X | g.48684319C>A | CA412866241 | WAS | n.202C>A c.169C>A (p.Leu57Met) n.204C>A n.195C>A | |
| X | g.48684319C>G | CA412866239 | WAS | n.202C>G c.169C>G (p.Leu57Val) n.204C>G n.195C>G | |
| X | g.48684319C>T | CA516022591 | WAS | n.202C>T c.169C>T (p.Leu57=) n.204C>T n.195C>T | |
| X | g.48684320T>A | CA412866244 | WAS | n.203T>A c.170T>A (p.Leu57Gln) n.205T>A n.196T>A | |
| X | g.48684320T>C | CA412866245 | WAS | n.203T>C c.170T>C (p.Leu57Pro) n.205T>C n.196T>C | |
| X | g.48684320T>G | CA412866247 | WAS | n.203T>G c.170T>G (p.Leu57Arg) n.205T>G n.196T>G | |
| X | g.48684321G>A | CA516022592 | WAS | n.204G>A c.171G>A (p.Leu57=) n.206G>A n.197G>A | |
| X | g.48684321G>C | CA516022593 | WAS | n.204G>C c.171G>C (p.Leu57=) n.206G>C n.197G>C | |
| X | g.48684321G>T | CA516022594 | WAS | n.204G>T c.171G>T (p.Leu57=) n.206G>T n.197G>T | |
| X | g.48684322C>A | CA412866249 | WAS | n.205C>A c.172C>A (p.Pro58Thr) n.207C>A n.198C>A | ClinVar dbSNP |
| X | g.48684322C= | CA2428354315 | WAS | n.205C= c.172C= (p.Pro58=) n.207C= n.198C= | |
| X | g.48684322C>G | CA412866251 | WAS | n.205C>G c.172C>G (p.Pro58Ala) n.207C>G n.198C>G | |
| X | g.48684322C>T | CA412866253 | WAS | n.205C>T c.172C>T (p.Pro58Ser) n.207C>T n.198C>T | |
| X | g.48684326dup | CA2820814577 | WAS | n.209dup c.176dup (p.Gly60TrpfsTer3) n.211dup n.202dup | |
| X | g.48684326del | CA2536813349 | WAS | n.209del c.176del (p.Pro59LeufsTer17) n.211del n.202del | ClinVar dbSNP |
| X | g.48684323C>A | CA16621416 | WAS | n.206C>A c.173C>A (p.Pro58His) n.208C>A n.199C>A | ClinVar dbSNP |
| X | g.48684323C= | CA2428354316 | WAS | n.206C= c.173C= (p.Pro58=) n.208C= n.199C= | |
| X | g.48684323C>G | CA121361 | WAS | n.206C>G c.173C>G (p.Pro58Arg) n.208C>G n.199C>G | ClinVar dbSNP |
| X | g.48684323C>T | CA412866258 | WAS | n.206C>T c.173C>T (p.Pro58Leu) n.208C>T n.199C>T | |
| X | g.48684324C>A | CA516022596 | WAS | n.207C>A c.174C>A (p.Pro58=) n.209C>A n.200C>A | |
| X | g.48684324C>G | CA516022598 | WAS | n.207C>G c.174C>G (p.Pro58=) n.209C>G n.200C>G | |
| X | g.48684324C>T | CA516022597 | WAS | n.207C>T c.174C>T (p.Pro58=) n.209C>T n.200C>T | |
| X | g.48684325C>A | CA412866262 | WAS | n.208C>A c.175C>A (p.Pro59Thr) n.210C>A n.201C>A | |
| X | g.48684325C= | CA2428354317 | WAS | n.208C= c.175C= (p.Pro59=) n.210C= n.201C= | |
| X | g.48684325C>G | CA412866264 | WAS | n.208C>G c.175C>G (p.Pro59Ala) n.210C>G n.201C>G | dbSNP |
| X | g.48684325C>T | CA412866266 | WAS | n.208C>T c.175C>T (p.Pro59Ser) n.210C>T n.201C>T | |
| X | g.48684326C>A | CA412866271 | WAS | n.209C>A c.176C>A (p.Pro59His) n.211C>A n.202C>A | |
| X | g.48684326C>G | CA412866275 | WAS | n.209C>G c.176C>G (p.Pro59Arg) n.211C>G n.202C>G | |
| X | g.48684326C>T | CA412866273 | WAS | n.209C>T c.176C>T (p.Pro59Leu) n.211C>T n.202C>T | |
| X | g.48684331_48684343del | CA2695233962 | WAS | n.214_226del c.181_193del (p.Ala61ProfsTer11) n.216_228del n.207_219del | |
| X | g.48684327del | CA2573055341 | WAS | n.210del c.177del (p.Gly60GlufsTer16) n.212del n.203del | ClinVar dbSNP |
| X | g.48684327T>A | CA516022600 | WAS | n.210T>A c.177T>A (p.Pro59=) n.212T>A n.203T>A | |
| X | g.48684327T>C | CA516022601 | WAS | n.210T>C c.177T>C (p.Pro59=) n.212T>C n.203T>C | |
| X | g.48684327T>G | CA516022602 | WAS | n.210T>G c.177T>G (p.Pro59=) n.212T>G n.203T>G | |
| X | g.48684328G>A | CA412866278 | WAS | n.211G>A c.178G>A (p.Gly60Arg) n.213G>A n.204G>A | gnomAD v4 |
| X | g.48684328G>C | CA412866279 | WAS | n.211G>C c.178G>C (p.Gly60Arg) n.213G>C n.204G>C | |
| X | g.48684328G>T | CA412866281 | WAS | n.211G>T c.178G>T (p.Gly60Ter) n.213G>T n.204G>T | |
| X | g.48684329G>A | CA412866284 | WAS | n.212G>A c.179G>A (p.Gly60Glu) n.214G>A n.205G>A | dbSNP |
| X | g.48684329G>C | CA412866286 | WAS | n.212G>C c.179G>C (p.Gly60Ala) n.214G>C n.205G>C | |
| X | g.48684329G= | CA2428354318 | WAS | n.212G= c.179G= (p.Gly60=) n.214G= n.205G= | |
| X | g.48684329G>T | CA412866288 | WAS | n.212G>T c.179G>T (p.Gly60Val) n.214G>T n.205G>T | gnomAD v4 COSMIC |
| X | g.48684330A= | CA2428354319 | WAS | n.213A= c.180A= (p.Gly60=) n.215A= n.206A= | |
| X | g.48684330A>C | CA516022604 | WAS | n.213A>C c.180A>C (p.Gly60=) n.215A>C n.206A>C | |
| X | g.48684330A>G | CA329100241 | WAS | n.213A>G c.180A>G (p.Gly60=) n.215A>G n.206A>G | dbSNP |
| X | g.48684330A>T | CA516022605 | WAS | n.213A>T c.180A>T (p.Gly60=) n.215A>T n.206A>T | dbSNP |
| X | g.48684331G>A | CA412866297 | WAS | n.214G>A c.181G>A (p.Ala61Thr) n.216G>A n.207G>A | |
| X | g.48684331G>C | CA412866295 | WAS | n.214G>C c.181G>C (p.Ala61Pro) n.216G>C n.207G>C | |
| X | g.48684331G>T | CA412866292 | WAS | n.214G>T c.181G>T (p.Ala61Ser) n.216G>T n.207G>T | |
| X | g.48684332C>A | CA412866301 | WAS | n.215C>A c.182C>A (p.Ala61Asp) n.217C>A n.208C>A | |
| X | g.48684332C>G | CA412866303 | WAS | n.215C>G c.182C>G (p.Ala61Gly) n.217C>G n.208C>G | |
| X | g.48684332C>T | CA412866306 | WAS | n.215C>T c.182C>T (p.Ala61Val) n.217C>T n.208C>T | |
| X | g.48684333T>A | CA516022609 | WAS | n.216T>A c.183T>A (p.Ala61=) n.218T>A n.209T>A | |
| X | g.48684333T>C | CA516022607 | WAS | n.216T>C c.183T>C (p.Ala61=) n.218T>C n.209T>C | |
| X | g.48684333T>G | CA516022608 | WAS | n.216T>G c.183T>G (p.Ala61=) n.218T>G n.209T>G | |
| X | g.48684334G>A | CA412866309 | WAS | n.217G>A c.184G>A (p.Glu62Lys) n.219G>A n.210G>A | gnomAD v4 |
| X | g.48684334G>C | CA10403868 | WAS | n.217G>C c.184G>C (p.Glu62Gln) n.219G>C n.210G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48684334G= | CA2428354320 | WAS | n.217G= c.184G= (p.Glu62=) n.219G= n.210G= | |
| X | g.48684334G>T | CA412866313 | WAS | n.217G>T c.184G>T (p.Glu62Ter) n.219G>T n.210G>T | |
| X | g.48684334dup | CA2695233963 | WAS | n.217dup c.184dup (p.Glu62GlyfsTer17) n.219dup n.210dup | |
| X | g.48684335A>C | CA412866321 | WAS | n.218A>C c.185A>C (p.Glu62Ala) n.220A>C n.211A>C | |
| X | g.48684335A>G | CA412866317 | WAS | n.218A>G c.185A>G (p.Glu62Gly) n.220A>G n.211A>G | |
| X | g.48684335A>T | CA412866319 | WAS | n.218A>T c.185A>T (p.Glu62Val) n.220A>T n.211A>T | |
| X | g.48684336G>A | CA516022610 | WAS | n.219G>A c.186G>A (p.Glu62=) n.221G>A n.212G>A | |
| X | g.48684336G>C | CA412866324 | WAS | n.219G>C c.186G>C (p.Glu62Asp) n.221G>C n.212G>C | |
| X | g.48684336G>T | CA412866326 | WAS | n.219G>T c.186G>T (p.Glu62Asp) n.221G>T n.212G>T | |
| X | g.48684337C>A | CA412866329 | WAS | n.220C>A c.187C>A (p.His63Asn) n.222C>A n.213C>A | |
| X | g.48684337C>G | CA412866331 | WAS | n.220C>G c.187C>G (p.His63Asp) n.222C>G n.213C>G | |
| X | g.48684337C>T | CA412866335 | WAS | n.220C>T c.187C>T (p.His63Tyr) n.222C>T n.213C>T | |
| X | g.48684338A>C | CA412866338 | WAS | n.221A>C c.188A>C (p.His63Pro) n.223A>C n.214A>C | |
| X | g.48684338A>G | CA412866340 | WAS | n.221A>G c.188A>G (p.His63Arg) n.223A>G n.214A>G | |
| X | g.48684338A>T | CA412866343 | WAS | n.221A>T c.188A>T (p.His63Leu) n.223A>T n.214A>T | |
| X | g.48684339C>A | CA412866346 | WAS | n.222C>A c.189C>A (p.His63Gln) n.224C>A n.215C>A | |
| X | g.48684339C>G | CA412866347 | WAS | n.222C>G c.189C>G (p.His63Gln) n.224C>G n.215C>G | COSMIC |
| X | g.48684339C>T | CA516022614 | WAS | n.222C>T c.189C>T (p.His63=) n.224C>T n.215C>T | ClinVar |
| X | g.48684340T>A | CA412866349 | WAS | n.223T>A c.190T>A (p.Trp64Arg) n.225T>A n.216T>A | |
| X | g.48684340T>C | CA412866352 | WAS | n.223T>C c.190T>C (p.Trp64Arg) n.225T>C n.216T>C | ClinVar dbSNP |
| X | g.48684340T>G | CA412866353 | WAS | n.223T>G c.190T>G (p.Trp64Gly) n.225T>G n.216T>G | |
| X | g.48684341G>A | CA412866356 | WAS | n.224G>A c.191G>A (p.Trp64Ter) n.226G>A n.217G>A | |
| X | g.48684341G>C | CA412866360 | WAS | n.224G>C c.191G>C (p.Trp64Ser) n.226G>C n.217G>C | |
| X | g.48684341G>T | CA412866357 | WAS | n.224G>T c.191G>T (p.Trp64Leu) n.226G>T n.217G>T | |
| X | g.48684342G>A | CA412866362 | WAS | n.225G>A c.192G>A (p.Trp64Ter) n.227G>A n.218G>A | ClinVar dbSNP |
| X | g.48684342G>C | CA412866364 | WAS | n.225G>C c.192G>C (p.Trp64Cys) n.227G>C n.218G>C | |
| X | g.48684342G>T | CA412866366 | WAS | n.225G>T c.192G>T (p.Trp64Cys) n.227G>T n.218G>T | |
| X | g.48684343A>C | CA412866370 | WAS | n.226A>C c.193A>C (p.Thr65Pro) n.228A>C n.219A>C | |
| X | g.48684343A>G | CA412866373 | WAS | n.226A>G c.193A>G (p.Thr65Ala) n.228A>G n.219A>G | |
| X | g.48684343A>T | CA412866376 | WAS | n.226A>T c.193A>T (p.Thr65Ser) n.228A>T n.219A>T | |
| X | g.48684344C>A | CA412866379 | WAS | n.227C>A c.194C>A (p.Thr65Asn) n.229C>A n.220C>A | ClinVar dbSNP gnomAD v4 |
| X | g.48684344C= | CA2428354321 | WAS | n.227C= c.194C= (p.Thr65=) n.229C= n.220C= | |
| X | g.48684344C>G | CA162681 | WAS | n.227C>G c.194C>G (p.Thr65Ser) n.229C>G n.220C>G | ClinVar dbSNP gnomAD v4 |
| X | g.48684344C>T | CA412866381 | WAS | n.227C>T c.194C>T (p.Thr65Ile) n.229C>T n.220C>T | |
| X | g.48684345C>A | CA516022616 | WAS | n.228C>A c.195C>A (p.Thr65=) n.230C>A n.221C>A | |
| X | g.48684345C= | CA2428354322 | WAS | n.228C= c.195C= (p.Thr65=) n.230C= n.221C= | |
| X | g.48684345C>G | CA516022617 | WAS | n.228C>G c.195C>G (p.Thr65=) n.230C>G n.221C>G | gnomAD v4 |
| X | g.48684345C>T | CA516022618 | WAS | n.228C>T c.195C>T (p.Thr65=) n.230C>T n.221C>T | dbSNP gnomAD v4 |
| X | g.48684346A>C | CA412866385 | WAS | n.229A>C c.196A>C (p.Lys66Gln) n.231A>C n.222A>C | |
| X | g.48684346A>G | CA412866387 | WAS | n.229A>G c.196A>G (p.Lys66Glu) n.231A>G n.222A>G | |
| X | g.48684346A>T | CA412866390 | WAS | n.229A>T c.196A>T (p.Lys66Ter) n.231A>T n.222A>T | |
| X | g.48684347A= | CA2428354323 | WAS | n.230A= c.197A= (p.Lys66=) n.232A= n.223A= | |
| X | g.48684347A>C | CA412866396 | WAS | n.230A>C c.197A>C (p.Lys66Thr) n.232A>C n.223A>C | |
| X | g.48684347A>G | CA412866398 | WAS | n.230A>G c.197A>G (p.Lys66Arg) n.232A>G n.223A>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48684347A>T | CA412866394 | WAS | n.230A>T c.197A>T (p.Lys66Met) n.232A>T n.223A>T | |
| X | g.48684348G>A | CA516022622 | WAS | n.231G>A c.198G>A (p.Lys66=) n.233G>A n.224G>A | |
| X | g.48684348G>C | CA412866401 | WAS | n.231G>C c.198G>C (p.Lys66Asn) n.233G>C n.224G>C | |
| X | g.48684348G>T | CA412866403 | WAS | n.231G>T c.198G>T (p.Lys66Asn) n.233G>T n.224G>T | |
| X | g.48684349G>A | CA412866406 | WAS | n.232G>A c.199G>A (p.Glu67Lys) n.234G>A n.225G>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48684349G>C | CA412866407 | WAS | n.232G>C c.199G>C (p.Glu67Gln) n.234G>C n.225G>C | |
| X | g.48684349G= | CA2428354324 | WAS | n.232G= c.199G= (p.Glu67=) n.234G= n.225G= | |
| X | g.48684349G>T | CA412866409 | WAS | n.232G>T c.199G>T (p.Glu67Ter) n.234G>T n.225G>T | |
| X | g.48684350A>C | CA412866422 | WAS | n.233A>C c.200A>C (p.Glu67Ala) n.235A>C n.226A>C | |
| X | g.48684350A>G | CA412866412 | WAS | n.233A>G c.200A>G (p.Glu67Gly) n.235A>G n.226A>G | |
| X | g.48684350A>T | CA412866414 | WAS | n.233A>T c.200A>T (p.Glu67Val) n.235A>T n.226A>T | |
| X | g.48684351G>A | CA516022624 | WAS | n.234G>A c.201G>A (p.Glu67=) n.236G>A n.227G>A | gnomAD v3 gnomAD v4 |
| X | g.48684351G>C | CA412866425 | WAS | n.234G>C c.201G>C (p.Glu67Asp) n.236G>C n.227G>C | |
| X | g.48684351G>T | CA412866427 | WAS | n.234G>T c.201G>T (p.Glu67Asp) n.236G>T n.227G>T | |
| X | g.48684353_48684362del | CA2695233964 | WAS | n.236_245del c.203_212del (p.His68LeufsTer5) n.238_247del n.229_238del | |
| X | g.48684352C>A | CA412866429 | WAS | n.235C>A c.202C>A (p.His68Asn) n.237C>A n.228C>A | |
| X | g.48684352C>G | CA412866431 | WAS | n.235C>G c.202C>G (p.His68Asp) n.237C>G n.228C>G | |
| X | g.48684352C>T | CA412866433 | WAS | n.235C>T c.202C>T (p.His68Tyr) n.237C>T n.228C>T | COSMIC |
| X | g.48684353A>C | CA412866436 | WAS | n.236A>C c.203A>C (p.His68Pro) n.238A>C n.229A>C | |
| X | g.48684353A>G | CA412866439 | WAS | n.236A>G c.203A>G (p.His68Arg) n.238A>G n.229A>G | |
| X | g.48684353A>T | CA412866438 | WAS | n.236A>T c.203A>T (p.His68Leu) n.238A>T n.229A>T | |
| X | g.48684354T>A | CA412866442 | WAS | n.237T>A c.204T>A (p.His68Gln) n.239T>A n.230T>A | |
| X | g.48684354T>C | CA516022626 | WAS | n.237T>C c.204T>C (p.His68=) n.239T>C n.230T>C | ClinVar dbSNP gnomAD v4 |
| X | g.48684354T>G | CA412866444 | WAS | n.237T>G c.204T>G (p.His68Gln) n.239T>G n.230T>G | |
| X | g.48684354T= | CA2428354325 | WAS | n.237T= c.204T= (p.His68=) n.239T= n.230T= | |
| X | g.48684355T>A | CA412866447 | WAS | n.238T>A c.205T>A (p.Cys69Ser) n.240T>A n.231T>A | |
| X | g.48684355T>C | CA412866449 | WAS | n.238T>C c.205T>C (p.Cys69Arg) n.240T>C n.231T>C | |
| X | g.48684355T>G | CA412866450 | WAS | n.238T>G c.205T>G (p.Cys69Gly) n.240T>G n.231T>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48684355T= | CA2428354326 | WAS | n.238T= c.205T= (p.Cys69=) n.240T= n.231T= | |
| X | g.48684356G>A | CA412866453 | WAS | n.239G>A c.206G>A (p.Cys69Tyr) n.241G>A n.232G>A | |
| X | g.48684356G>C | CA10403869 | WAS | n.239G>C c.206G>C (p.Cys69Ser) n.241G>C n.232G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48684356G= | CA2428354327 | WAS | n.239G= c.206G= (p.Cys69=) n.241G= n.232G= | |
| X | g.48684356G>T | CA412866455 | WAS | n.239G>T c.206G>T (p.Cys69Phe) n.241G>T n.232G>T | |
| X | g.48684357T>A | CA412866457 | WAS | n.240T>A c.207T>A (p.Cys69Ter) n.242T>A n.233T>A | |
| X | g.48684357T>C | CA516022627 | WAS | n.240T>C c.207T>C (p.Cys69=) n.242T>C n.233T>C | |
| X | g.48684357T>G | CA412866458 | WAS | n.240T>G c.207T>G (p.Cys69Trp) n.242T>G n.233T>G | |
| X | g.48684358G>A | CA412866460 | WAS | n.241G>A c.208G>A (p.Gly70Arg) n.243G>A n.234G>A | |
| X | g.48684358G>C | CA412866463 | WAS | n.241G>C c.208G>C (p.Gly70Arg) n.243G>C n.234G>C | |
| X | g.48684358G>T | CA412866464 | WAS | n.241G>T c.208G>T (p.Gly70Trp) n.243G>T n.234G>T | |
| X | g.48684359G>A | CA412866470 | WAS | n.242G>A c.209G>A (p.Gly70Glu) n.244G>A n.235G>A | |
| X | g.48684359G>C | CA412866469 | WAS | n.242G>C c.209G>C (p.Gly70Ala) n.244G>C n.235G>C | |
| X | g.48684359G>T | CA412866467 | WAS | n.242G>T c.209G>T (p.Gly70Val) n.244G>T n.235G>T | |
| X | g.48684360G>A | CA10587396 | WAS | n.243G>A c.210G>A (p.Gly70=) n.245G>A n.236G>A | ClinVar dbSNP gnomAD v4 |
| X | g.48684360G>C | CA516022632 | WAS | n.243G>C c.210G>C (p.Gly70=) n.245G>C n.236G>C | |
| X | g.48684360G= | CA2428354328 | WAS | n.243G= c.210G= (p.Gly70=) n.245G= n.236G= | |
| X | g.48684360G>T | CA516022631 | WAS | n.243G>T c.210G>T (p.Gly70=) n.245G>T n.236G>T | |
| X | g.48684361G>A | CA412866475 | WAS | n.244G>A c.211G>A (p.Ala71Thr) n.246G>A n.237G>A | |
| X | g.48684361G>C | CA412866477 | WAS | n.244G>C c.211G>C (p.Ala71Pro) n.246G>C n.237G>C | |
| X | g.48684361G>T | CA412866479 | WAS | n.244G>T c.211G>T (p.Ala71Ser) n.246G>T n.237G>T | |
| X | g.48684362C>A | CA412866481 | WAS | n.245C>A c.212C>A (p.Ala71Asp) n.247C>A n.238C>A | |
| X | g.48684362C>G | CA412866483 | WAS | n.245C>G c.212C>G (p.Ala71Gly) n.247C>G n.238C>G | |
| X | g.48684362C>T | CA412866485 | WAS | n.245C>T c.212C>T (p.Ala71Val) n.247C>T n.238C>T | |
| X | g.48684363T>A | CA516022634 | WAS | n.246T>A c.213T>A (p.Ala71=) n.248T>A n.239T>A | |
| X | g.48684363T>C | CA516022636 | WAS | n.246T>C c.213T>C (p.Ala71=) n.248T>C n.239T>C | gnomAD v4 |
| X | g.48684363T>G | CA516022637 | WAS | n.246T>G c.213T>G (p.Ala71=) n.248T>G n.239T>G | |
| X | g.48684364del | CA2695233965 | WAS | n.247del c.214del (p.Val72CysfsTer4) n.249del n.240del | |
| X | g.48684364G>A | CA412866488 | WAS | n.247G>A c.214G>A (p.Val72Met) n.249G>A n.240G>A | |
| X | g.48684364G>C | CA412866489 | WAS | n.247G>C c.214G>C (p.Val72Leu) n.249G>C n.240G>C | gnomAD v4 |
| X | g.48684364G>T | CA412866491 | WAS | n.247G>T c.214G>T (p.Val72Leu) n.249G>T n.240G>T | |
| X | g.48684365T>A | CA412866494 | WAS | n.248T>A c.215T>A (p.Val72Glu) n.250T>A n.241T>A | |
| X | g.48684365T>C | CA412866495 | WAS | n.248T>C c.215T>C (p.Val72Ala) n.250T>C n.241T>C | |
| X | g.48684365T>G | CA412866497 | WAS | n.248T>G c.215T>G (p.Val72Gly) n.250T>G n.241T>G | |
| X | g.48684366G>A | CA516022638 | WAS | n.249G>A c.216G>A (p.Val72=) n.251G>A n.242G>A | gnomAD v4 |
| X | g.48684366G>C | CA516022640 | WAS | n.249G>C c.216G>C (p.Val72=) n.251G>C n.242G>C | dbSNP |
| X | g.48684366G= | CA2428354329 | WAS | n.249G= c.216G= (p.Val72=) n.251G= n.242G= | |
| X | g.48684366G>T | CA516022639 | WAS | n.249G>T c.216G>T (p.Val72=) n.251G>T n.242G>T | |
| X | g.48684367T>A | CA412866501 | WAS | n.250T>A c.217T>A (p.Cys73Ser) n.252T>A n.243T>A | ClinVar dbSNP |
| X | g.48684367T>C | CA412866502 | WAS | n.250T>C c.217T>C (p.Cys73Arg) n.252T>C n.243T>C | dbSNP |
| X | g.48684367T>G | CA412866499 | WAS | n.250T>G c.217T>G (p.Cys73Gly) n.252T>G n.243T>G | |
| X | g.48684367T= | CA2428354330 | WAS | n.250T= c.217T= (p.Cys73=) n.252T= n.243T= | |
| X | g.48684368G>A | CA412866503 | WAS | n.251G>A c.218G>A (p.Cys73Tyr) n.253G>A n.244G>A | |
| X | g.48684368G>C | CA412866505 | WAS | n.251G>C c.218G>C (p.Cys73Ser) n.253G>C n.244G>C | |
| X | g.48684368G>T | CA412866507 | WAS | n.251G>T c.218G>T (p.Cys73Phe) n.253G>T n.244G>T | |
| X | g.48684369C>A | CA412866509 | WAS | n.252C>A c.219C>A (p.Cys73Ter) n.254C>A n.245C>A | |
| X | g.48684369C>G | CA412866511 | WAS | n.252C>G c.219C>G (p.Cys73Trp) n.254C>G n.245C>G | |
| X | g.48684369C>T | CA516022642 | WAS | n.252C>T c.219C>T (p.Cys73=) n.254C>T n.245C>T | |
| X | g.48684370T>A | CA412866513 | WAS | n.253T>A c.220T>A (p.Phe74Ile) n.255T>A n.246T>A | |
| X | g.48684370T>C | CA412866515 | WAS | n.253T>C c.220T>C (p.Phe74Leu) n.255T>C n.246T>C | |
| X | g.48684370T>G | CA412866517 | WAS | n.253T>G c.220T>G (p.Phe74Val) n.255T>G n.246T>G | |
| X | g.48684371T>A | CA412866519 | WAS | n.254T>A c.221T>A (p.Phe74Tyr) n.256T>A n.247T>A | |
| X | g.48684371T>C | CA412866521 | WAS | n.254T>C c.221T>C (p.Phe74Ser) n.256T>C n.247T>C | |
| X | g.48684371T>G | CA412866524 | WAS | n.254T>G c.221T>G (p.Phe74Cys) n.256T>G n.247T>G | |
| X | g.48684372C>A | CA412866526 | WAS | n.255C>A c.222C>A (p.Phe74Leu) n.257C>A n.248C>A | |
| X | g.48684372C= | CA2428354331 | WAS | n.255C= c.222C= (p.Phe74=) n.257C= n.248C= | |
| X | g.48684372C>G | CA412866528 | WAS | n.255C>G c.222C>G (p.Phe74Leu) n.257C>G n.248C>G | |
| X | g.48684372C>T | CA516022644 | WAS | n.255C>T c.222C>T (p.Phe74=) n.257C>T n.248C>T | ClinVar dbSNP gnomAD v4 |
| X | g.48684373G>A | CA10403870 | WAS | n.256G>A c.223G>A (p.Val75Met) n.258G>A n.249G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.48684373G>C | CA412866535 | WAS | n.256G>C c.223G>C (p.Val75Leu) n.258G>C n.249G>C | |
| X | g.48684373G= | CA2428354332 | WAS | n.256G= c.223G= (p.Val75=) n.258G= n.249G= | |
| X | g.48684373G>T | CA412866533 | WAS | n.256G>T c.223G>T (p.Val75Leu) n.258G>T n.249G>T | |
| X | g.48684374T>A | CA412866538 | WAS | n.257T>A c.224T>A (p.Val75Glu) n.259T>A n.250T>A | |
| X | g.48684374T>C | CA412866539 | WAS | n.257T>C c.224T>C (p.Val75Ala) n.259T>C n.250T>C | |
| X | g.48684374T>G | CA412866541 | WAS | n.257T>G c.224T>G (p.Val75Gly) n.259T>G n.250T>G | |
| X | g.48684375G>A | CA516022651 | WAS | n.258G>A c.225G>A (p.Val75=) n.260G>A n.251G>A | ClinVar |
| X | g.48684375G>C | CA516022648 | WAS | n.258G>C c.225G>C (p.Val75=) n.260G>C n.251G>C | |
| X | g.48684375G>T | CA516022650 | WAS | n.258G>T c.225G>T (p.Val75=) n.260G>T n.251G>T | |
| X | g.48684376_48684378del | CA2580617033 | WAS | n.259_261del c.226_228del (p.Lys76del) n.261_263del n.252_254del | ClinVar |
| X | g.48684376A>C | CA412866544 | WAS | n.259A>C c.226A>C (p.Lys76Gln) n.261A>C n.252A>C | |
| X | g.48684376A>G | CA412866545 | WAS | n.259A>G c.226A>G (p.Lys76Glu) n.261A>G n.252A>G | |
| X | g.48684376A>T | CA412866547 | WAS | n.259A>T c.226A>T (p.Lys76Ter) n.261A>T n.252A>T | |
| X | g.48684377del | CA2695233966 | WAS | n.260del c.227del (p.Lys76ArgfsTer?) n.262del n.253del | |
| X | g.48684377A= | CA2428354333 | WAS | n.260A= c.227A= (p.Lys76=) n.262A= n.253A= | |
| X | g.48684377A>C | CA10403871 | WAS | n.260A>C c.227A>C (p.Lys76Thr) n.262A>C n.253A>C | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.48684377A>G | CA412866550 | WAS | n.260A>G c.227A>G (p.Lys76Arg) n.262A>G n.253A>G | |
| X | g.48684377A>T | CA412866551 | WAS | n.260A>T c.227A>T (p.Lys76Met) n.262A>T n.253A>T | |
| X | g.48684378G>A | CA516022652 | WAS | n.261G>A c.228G>A (p.Lys76=) n.263G>A n.254G>A | |
| X | g.48684378G>C | CA412866552 | WAS | n.261G>C c.228G>C (p.Lys76Asn) n.263G>C n.254G>C | |
| X | g.48684378G>T | CA412866553 | WAS | n.261G>T c.228G>T (p.Lys76Asn) n.263G>T n.254G>T | |
| X | g.48684379G>A | CA412866556 | WAS | n.262G>A c.229G>A (p.Asp77Asn) n.264G>A n.255G>A | ClinVar dbSNP |
| X | g.48684379G>C | CA412866555 | WAS | n.262G>C c.229G>C (p.Asp77His) n.264G>C n.255G>C | |
| X | g.48684379G>T | CA412866554 | WAS | n.262G>T c.229G>T (p.Asp77Tyr) n.264G>T n.255G>T | |
| X | g.48684380A>C | CA412866558 | WAS | n.263A>C c.230A>C (p.Asp77Ala) n.265A>C n.256A>C | |
| X | g.48684380A>G | CA412866557 | WAS | n.263A>G c.230A>G (p.Asp77Gly) n.265A>G n.256A>G | ClinVar |
| X | g.48684380A>T | CA412866559 | WAS | n.263A>T c.230A>T (p.Asp77Val) n.265A>T n.256A>T | |
| X | g.48684381T>A | CA412866560 | WAS | n.264T>A c.231T>A (p.Asp77Glu) n.266T>A n.257T>A | |
| X | g.48684381T>C | CA516022653 | WAS | n.264T>C c.231T>C (p.Asp77=) n.266T>C n.257T>C | |
| X | g.48684381T>G | CA412866561 | WAS | n.264T>G c.231T>G (p.Asp77Glu) n.266T>G n.257T>G | |
| X | g.48684382A>C | CA412866562 | WAS | n.265A>C c.232A>C (p.Asn78His) n.267A>C n.258A>C | |
| X | g.48684382A>G | CA412866564 | WAS | n.265A>G c.232A>G (p.Asn78Asp) n.267A>G n.258A>G | |
| X | g.48684382A>T | CA412866563 | WAS | n.265A>T c.232A>T (p.Asn78Tyr) n.267A>T n.258A>T | |
| X | g.48684383del | CA2566481576 | WAS | n.266del c.233del (p.Asn78ThrfsTer?) n.268del n.259del | |
| X | g.48684383A>C | CA412866565 | WAS | n.266A>C c.233A>C (p.Asn78Thr) n.268A>C n.259A>C | |
| X | g.48684383A>G | CA412866567 | WAS | n.266A>G c.233A>G (p.Asn78Ser) n.268A>G n.259A>G | COSMIC |
| X | g.48684383A>T | CA412866566 | WAS | n.266A>T c.233A>T (p.Asn78Ile) n.268A>T n.259A>T | |
| X | g.48684384C>A | CA412866568 | WAS | n.267C>A c.234C>A (p.Asn78Lys) n.269C>A n.260C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48684384C= | CA2428354334 | WAS | n.267C= c.234C= (p.Asn78=) n.269C= n.260C= | |
| X | g.48684384C>G | CA412866569 | WAS | n.267C>G c.234C>G (p.Asn78Lys) n.269C>G n.260C>G | |
| X | g.48684384C>T | CA516022659 | WAS | n.267C>T c.234C>T (p.Asn78=) n.269C>T n.260C>T | |
| X | g.48684388del | CA2695233968 | WAS | n.271del c.238del (p.Gln80ArgfsTer?) n.273del n.264del | |
| X | g.48684385_48684388del | CA2695233967 | WAS | n.268_271del c.235_238del (p.Pro79ArgfsTer?) n.270_273del n.261_264del | |
| X | g.48684385C>A | CA412866570 | WAS | n.268C>A c.235C>A (p.Pro79Thr) n.270C>A n.261C>A | |
| X | g.48684385C>G | CA412866571 | WAS | n.268C>G c.235C>G (p.Pro79Ala) n.270C>G n.261C>G | |
| X | g.48684385C>T | CA412866572 | WAS | n.268C>T c.235C>T (p.Pro79Ser) n.270C>T n.261C>T | |
| X | g.48684386C>A | CA412866573 | WAS | n.269C>A c.236C>A (p.Pro79His) n.271C>A n.262C>A | |
| X | g.48684386C>G | CA412866574 | WAS | n.269C>G c.236C>G (p.Pro79Arg) n.271C>G n.262C>G | |
| X | g.48684386C>T | CA412866575 | WAS | n.269C>T c.236C>T (p.Pro79Leu) n.271C>T n.262C>T | gnomAD v4 COSMIC |
| X | g.48684387C>A | CA516022660 | WAS | n.270C>A c.237C>A (p.Pro79=) n.272C>A n.263C>A | |
| X | g.48684387C>G | CA516022661 | WAS | n.270C>G c.237C>G (p.Pro79=) n.272C>G n.263C>G | |
| X | g.48684387C>T | CA516022663 | WAS | n.270C>T c.237C>T (p.Pro79=) n.272C>T n.263C>T | gnomAD v4 |
| X | g.48684388C>A | CA412866576 | WAS | n.271C>A c.238C>A (p.Gln80Lys) n.273C>A n.264C>A | gnomAD v4 |
| X | g.48684388C= | CA2428354335 | WAS | n.271C= c.238C= (p.Gln80=) n.273C= n.264C= | |
| X | g.48684388C>G | CA412866577 | WAS | n.271C>G c.238C>G (p.Gln80Glu) n.273C>G n.264C>G | |
| X | g.48684388C>T | CA412866578 | WAS | n.271C>T c.238C>T (p.Gln80Ter) n.273C>T n.264C>T | ClinVar dbSNP |
| X | g.48684389A>C | CA412866582 | WAS | n.272A>C c.239A>C (p.Gln80Pro) n.274A>C n.265A>C | |
| X | g.48684389A>G | CA412866580 | WAS | n.272A>G c.239A>G (p.Gln80Arg) n.274A>G n.265A>G | |
| X | g.48684389A>T | CA412866581 | WAS | n.272A>T c.239A>T (p.Gln80Leu) n.274A>T n.265A>T | |
| X | g.48684390G>A | CA516022665 | WAS | n.273G>A c.240G>A (p.Gln80=) n.275G>A n.266G>A | |
| X | g.48684390G>C | CA412866583 | WAS | n.273G>C c.240G>C (p.Gln80His) n.275G>C n.266G>C | |
| X | g.48684390G>T | CA412866584 | WAS | n.273G>T c.240G>T (p.Gln80His) n.275G>T n.266G>T | |
| X | g.48684391A>C | CA412866585 | WAS | n.274A>C c.241A>C (p.Lys81Gln) n.276A>C n.267A>C | |
| X | g.48684391A>G | CA412866586 | WAS | n.274A>G c.241A>G (p.Lys81Glu) n.276A>G n.267A>G | |
| X | g.48684391A>T | CA412866587 | WAS | n.274A>T c.241A>T (p.Lys81Ter) n.276A>T n.267A>T | |
| X | g.48684392A>C | CA412866588 | WAS | n.275A>C c.242A>C (p.Lys81Thr) n.277A>C n.268A>C | COSMIC |
| X | g.48684392A>G | CA412866589 | WAS | n.275A>G c.242A>G (p.Lys81Arg) n.277A>G n.268A>G | |
| X | g.48684392A>T | CA412866590 | WAS | n.275A>T c.242A>T (p.Lys81Met) n.277A>T n.268A>T | |
| X | g.48684393G>A | CA516022670 | WAS | n.276G>A c.243G>A (p.Lys81=) n.278G>A n.269G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48684393G>C | CA412866591 | WAS | n.276G>C c.243G>C (p.Lys81Asn) n.278G>C n.269G>C | |
| X | g.48684393G= | CA2428354336 | WAS | n.276G= c.243G= (p.Lys81=) n.278G= n.269G= | |
| X | g.48684393G>T | CA412866592 | WAS | n.276G>T c.243G>T (p.Lys81Asn) n.278G>T n.269G>T | |
| X | g.48684394T>A | CA412866594 | WAS | n.277T>A c.244T>A (p.Ser82Thr) n.279T>A n.270T>A | |
| X | g.48684394T>C | CA121359 | WAS | n.277T>C c.244T>C (p.Ser82Pro) n.279T>C n.270T>C | ClinVar dbSNP |
| X | g.48684394T>G | CA412866593 | WAS | n.277T>G c.244T>G (p.Ser82Ala) n.279T>G n.270T>G | |
| X | g.48684394T= | CA2428354337 | WAS | n.277T= c.244T= (p.Ser82=) n.279T= n.270T= | |
| X | g.48684395C>A | CA412866595 | WAS | n.278C>A c.245C>A (p.Ser82Tyr) n.280C>A n.271C>A | |
| X | g.48684395C>G | CA412866596 | WAS | n.278C>G c.245C>G (p.Ser82Cys) n.280C>G n.271C>G | |
| X | g.48684395C>T | CA412866597 | WAS | n.278C>T c.245C>T (p.Ser82Phe) n.280C>T n.271C>T | |
| X | g.48684396del | CA2695233969 | WAS | n.279del c.246del (p.Tyr83ThrfsTer?) n.281del n.272del | |
| X | g.48684396C>A | CA516022678 | WAS | n.279C>A c.246C>A (p.Ser82=) n.281C>A n.272C>A | |
| X | g.48684396C>G | CA516022676 | WAS | n.279C>G c.246C>G (p.Ser82=) n.281C>G n.272C>G | |
| X | g.48684396C>T | CA516022674 | WAS | n.279C>T c.246C>T (p.Ser82=) n.281C>T n.272C>T | |
| X | g.48684398_48684400del | CA2695233970 | WAS | n.281_283del c.248_250del (p.Tyr83del) n.283_285del n.274_276del | |
| X | g.48684397T>A | CA412866598 | WAS | n.280T>A c.247T>A (p.Tyr83Asn) n.282T>A n.273T>A | |
| X | g.48684397T>C | CA412866599 | WAS | n.280T>C c.247T>C (p.Tyr83His) n.282T>C n.273T>C | |
| X | g.48684397T>G | CA412866600 | WAS | n.280T>G c.247T>G (p.Tyr83Asp) n.282T>G n.273T>G | |
| X | g.48684398A>C | CA412866601 | WAS | n.281A>C c.248A>C (p.Tyr83Ser) n.283A>C n.274A>C | |
| X | g.48684398A>G | CA412866602 | WAS | n.281A>G c.248A>G (p.Tyr83Cys) n.283A>G n.274A>G | |
| X | g.48684398A>T | CA412866603 | WAS | n.281A>T c.248A>T (p.Tyr83Phe) n.283A>T n.274A>T | |
| X | g.48684398dup | CA2695233971 | WAS | n.281dup c.248dup (p.Tyr83Ter) n.283dup n.274dup | |
| X | g.48684399_48684403del | CA2695233972 | WAS | n.282_286del c.249_253del (p.Phe84ProfsTer?) n.284_288del n.275_279del | |
| X | g.48684399C>A | CA16621417 | WAS | n.282C>A c.249C>A (p.Tyr83Ter) n.284C>A n.275C>A | ClinVar dbSNP |
| X | g.48684399C= | CA2428354338 | WAS | n.282C= c.249C= (p.Tyr83=) n.284C= n.275C= | |
| X | g.48684399C>G | CA412866604 | WAS | n.282C>G c.249C>G (p.Tyr83Ter) n.284C>G n.275C>G | |
| X | g.48684399C>T | CA10403872 | WAS | n.282C>T c.249C>T (p.Tyr83=) n.284C>T n.275C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48684400T>A | CA412866607 | WAS | n.283T>A c.250T>A (p.Phe84Ile) n.285T>A n.276T>A | |
| X | g.48684400T>C | CA412866605 | WAS | n.283T>C c.250T>C (p.Phe84Leu) n.285T>C n.276T>C | ClinVar dbSNP |
| X | g.48684400T>G | CA412866606 | WAS | n.283T>G c.250T>G (p.Phe84Val) n.285T>G n.276T>G | |
| X | g.48684401T>A | CA412866608 | WAS | n.284T>A c.251T>A (p.Phe84Tyr) n.286T>A n.277T>A | |
| X | g.48684401T>C | CA412866609 | WAS | n.284T>C c.251T>C (p.Phe84Ser) n.286T>C n.277T>C | |
| X | g.48684401T>G | CA412866610 | WAS | n.284T>G c.251T>G (p.Phe84Cys) n.286T>G n.277T>G | |
| X | g.48684402C>A | CA412866611 | WAS | n.285C>A c.252C>A (p.Phe84Leu) n.287C>A n.278C>A | |
| X | g.48684402C>G | CA412866612 | WAS | n.285C>G c.252C>G (p.Phe84Leu) n.287C>G n.278C>G | |
| X | g.48684402C>T | CA516022682 | WAS | n.285C>T c.252C>T (p.Phe84=) n.287C>T n.278C>T |