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.48683727G>C | CA2693642792 | WAS | c.-34-93G>C (n.-34-93G>C) | gnomAD v4 |
| X | g.48683727G>T | CA2693642793 | WAS | c.-34-93G>T (n.-34-93G>T) | gnomAD v4 |
| X | g.48683728del | CA2693642791 | WAS | c.-34-92del (n.-34-92del) | gnomAD v4 |
| X | g.48683728G>A | CA2693642794 | WAS | c.-34-92G>A (n.-34-92G>A) | gnomAD v4 |
| X | g.48683728G>T | CA2693642795 | WAS | c.-34-92G>T (n.-34-92G>T) | gnomAD v4 |
| X | g.48683730G>T | CA2693642796 | WAS | c.-34-90G>T (n.-34-90G>T) | gnomAD v4 |
| X | g.48683732A= | CA2428354113 | WAS | c.-34-88A= (n.-34-88A=) | |
| X | g.48683732A>T | CA875913402 | WAS | c.-34-88A>T (n.-34-88A>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683733C>A | CA2693642797 | WAS | c.-34-87C>A (n.-34-87C>A) | gnomAD v4 |
| X | g.48683734T>G | CA2428354115 | WAS | c.-34-86T>G (n.-34-86T>G) | dbSNP gnomAD v4 |
| X | g.48683734T= | CA2428354114 | WAS | c.-34-86T= (n.-34-86T=) | |
| X | g.48683735T>A | CA657966335 | WAS | c.-34-85T>A (n.-34-85T>A) | COSMIC |
| X | g.48683735T>C | CA2693642798 | WAS | c.-34-85T>C (n.-34-85T>C) | gnomAD v4 |
| X | g.48683736G>C | CA1132960276 | WAS | c.-34-84G>C (n.-34-84G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683736G= | CA2428354116 | WAS | c.-34-84G= (n.-34-84G=) | |
| X | g.48683736G>T | CA2693642799 | WAS | c.-34-84G>T (n.-34-84G>T) | gnomAD v4 |
| X | g.48683739dup | CA2693642800 | WAS | c.-34-81dup (n.-34-81dup) | gnomAD v4 |
| X | g.48683740C= | CA2428354117 | WAS | c.-34-80C= (n.-34-80C=) | |
| X | g.48683740C>T | CA875913403 | WAS | c.-34-80C>T (n.-34-80C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683742C>A | CA2693642801 | WAS | c.-34-78C>A (n.-34-78C>A) | gnomAD v4 |
| X | g.48683744T>C | CA2693642802 | WAS | c.-34-76T>C (n.-34-76T>C) | gnomAD v4 |
| X | g.48683748C>G | CA2693642803 | WAS | c.-34-72C>G (n.-34-72C>G) | gnomAD v4 |
| X | g.48683750T>C | CA2693642804 | WAS | c.-34-70T>C (n.-34-70T>C) | gnomAD v4 |
| X | g.48683752G= | CA2428354118 | WAS | c.-34-68G= (n.-34-68G=) | |
| X | g.48683752G>T | CA875913407 | WAS | c.-34-68G>T (n.-34-68G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683753T>A | CA2693642805 | WAS | c.-34-67T>A (n.-34-67T>A) c.-101T>A (n.-101T>A) | gnomAD v4 |
| X | g.48683753T>C | CA1132960278 | WAS | c.-34-67T>C (n.-34-67T>C) c.-101T>C (n.-101T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683753T= | CA2428354119 | WAS | c.-34-67T= (n.-34-67T=) c.-101T= (n.-101T=) | |
| X | g.48683755del | CA2693642806 | WAS | c.-34-65del (n.-34-65del) c.-99del (n.-99del) | gnomAD v4 |
| X | g.48683755G>A | CA2428354120 | WAS | c.-34-65G>A (n.-34-65G>A) c.-99G>A (n.-99G>A) | dbSNP |
| X | g.48683755G= | CA2428354121 | WAS | c.-34-65G= (n.-34-65G=) c.-99G= (n.-99G=) | |
| X | g.48683755G>T | CA2594481288 | WAS | c.-34-65G>T (n.-34-65G>T) c.-99G>T (n.-99G>T) | gnomAD v3 gnomAD v4 |
| X | g.48683756T>A | CA2693642808 | WAS | c.-34-64T>A (n.-34-64T>A) c.-98T>A (n.-98T>A) | gnomAD v4 |
| X | g.48683761dup | CA329099824 | WAS | c.-34-59dup (n.-34-59dup) c.-93dup (n.-93dup) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683761del | CA2693642807 | WAS | c.-34-59del (n.-34-59del) c.-93del (n.-93del) | gnomAD v4 |
| X | g.48683757T>A | CA2579600557 | WAS | c.-34-63T>A (n.-34-63T>A) c.-97T>A (n.-97T>A) | |
| X | g.48683759T>C | CA2693642809 | WAS | c.-34-61T>C (n.-34-61T>C) c.-95T>C (n.-95T>C) | gnomAD v4 |
| X | g.48683760T>C | CA2428354123 | WAS | c.-34-60T>C (n.-34-60T>C) c.-94T>C (n.-94T>C) | dbSNP |
| X | g.48683760T= | CA2428354122 | WAS | c.-34-60T= (n.-34-60T=) c.-94T= (n.-94T=) | |
| X | g.48683762G>A | CA2579600558 | WAS | c.-34-58G>A (n.-34-58G>A) c.-92G>A (n.-92G>A) | gnomAD v4 |
| X | g.48683762G>T | CA2693642811 | WAS | c.-34-58G>T (n.-34-58G>T) c.-92G>T (n.-92G>T) | gnomAD v4 |
| 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 |