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.48683697_48683700delinsCGAG | CA2428354096 | WAS | c.-34-123_-34-120delinsCGAG (n.-34-123_-34-120delinsCGAG) | |
| X | g.48683698G>A | CA2428354099 | WAS | c.-34-122G>A (n.-34-122G>A) | dbSNP gnomAD v4 |
| X | g.48683698G= | CA2428354098 | WAS | c.-34-122G= (n.-34-122G=) | |
| X | g.48683698G>T | CA2693642769 | WAS | c.-34-122G>T (n.-34-122G>T) | gnomAD v4 |
| X | g.48683702_48683704del | CA2428354097 | WAS | c.-34-118_-34-116del (n.-34-118_-34-116del) | dbSNP |
| X | g.48683700G>C | CA2428354101 | WAS | c.-34-120G>C (n.-34-120G>C) | dbSNP gnomAD v4 |
| X | g.48683700G= | CA2428354100 | WAS | c.-34-120G= (n.-34-120G=) | |
| X | g.48683701G>T | CA2594481287 | WAS | c.-34-119G>T (n.-34-119G>T) | gnomAD v3 gnomAD v4 |
| X | g.48683702A= | CA2428354102 | WAS | c.-34-118A= (n.-34-118A=) | |
| X | g.48683702A>C | CA329099797 | WAS | c.-34-118A>C (n.-34-118A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683704G>A | CA2693642770 | WAS | c.-34-116G>A (n.-34-116G>A) | gnomAD v4 |
| X | g.48683704G>T | CA2693642771 | WAS | c.-34-116G>T (n.-34-116G>T) | gnomAD v4 |
| X | g.48683705C>A | CA2693642772 | WAS | c.-34-115C>A (n.-34-115C>A) | gnomAD v4 |
| X | g.48683705C>T | CA2693642773 | WAS | c.-34-115C>T (n.-34-115C>T) | gnomAD v4 |
| X | g.48683706C>A | CA2693642774 | WAS | c.-34-114C>A (n.-34-114C>A) | gnomAD v4 |
| X | g.48683706C= | CA2428354103 | WAS | c.-34-114C= (n.-34-114C=) | |
| X | g.48683706C>T | CA641510466 | WAS | c.-34-114C>T (n.-34-114C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683707_48683720delinsAGGCCCACCAAGGG | CA2428354104 | WAS | c.-34-113_-34-100delinsAGGCCCACCAAGGG (n.-34-113_-34-100delinsAGGCCCACCAAGGG) | |
| X | g.48683708G>A | CA2693642775 | WAS | c.-34-112G>A (n.-34-112G>A) | gnomAD v4 |
| X | g.48683708G>T | CA2693642776 | WAS | c.-34-112G>T (n.-34-112G>T) | gnomAD v4 |
| X | g.48683709_48683721del | CA875913396 | WAS | c.-34-111_-34-99del (n.-34-111_-34-99del) | dbSNP |
| X | g.48683709G>T | CA2693642777 | WAS | c.-34-111G>T (n.-34-111G>T) | gnomAD v4 |
| X | g.48683709_48683723delinsGCCCACCAAGGGGCC | CA2428354105 | WAS | c.-34-111_-34-97delinsGCCCACCAAGGGGCC (n.-34-111_-34-97delinsGCCCACCAAGGGGCC) | |
| X | g.48683710C>A | CA2693642778 | WAS | c.-34-110C>A (n.-34-110C>A) | gnomAD v4 |
| X | g.48683712_48683725del | CA2428354106 | WAS | c.-34-108_-34-95del (n.-34-108_-34-95del) | dbSNP |
| X | g.48683711C>A | CA2693642779 | WAS | c.-34-109C>A (n.-34-109C>A) | gnomAD v4 |
| X | g.48683712C>A | CA2693642780 | WAS | c.-34-108C>A (n.-34-108C>A) | gnomAD v4 |
| X | g.48683714C>A | CA329099802 | WAS | c.-34-106C>A (n.-34-106C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683714C= | CA2428354107 | WAS | c.-34-106C= (n.-34-106C=) | |
| X | g.48683714C>T | CA2693642781 | WAS | c.-34-106C>T (n.-34-106C>T) | gnomAD v4 |
| X | g.48683715C>A | CA2693642782 | WAS | c.-34-105C>A (n.-34-105C>A) | gnomAD v4 |
| X | g.48683716A= | CA2428354108 | WAS | c.-34-104A= (n.-34-104A=) | |
| X | g.48683716A>G | CA1132960273 | WAS | c.-34-104A>G (n.-34-104A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683717A= | CA2428354109 | WAS | c.-34-103A= (n.-34-103A=) | |
| X | g.48683718G>A | CA875913399 | WAS | c.-34-102G>A (n.-34-102G>A) | dbSNP gnomAD v4 |
| X | g.48683718G= | CA2428354111 | WAS | c.-34-102G= (n.-34-102G=) | |
| X | g.48683718G>T | CA2693642783 | WAS | c.-34-102G>T (n.-34-102G>T) | gnomAD v4 |
| X | g.48683720_48683721dup | CA2428354110 | WAS | c.-34-100_-34-99dup (n.-34-100_-34-99dup) | dbSNP gnomAD v4 |
| X | g.48683719G>T | CA2693642784 | WAS | c.-34-101G>T (n.-34-101G>T) | gnomAD v4 |
| X | g.48683720G>A | CA2693642785 | WAS | c.-34-100G>A (n.-34-100G>A) | gnomAD v4 |
| X | g.48683720G>T | CA2693642786 | WAS | c.-34-100G>T (n.-34-100G>T) | gnomAD v4 |
| X | g.48683721G>T | CA2693642787 | WAS | c.-34-99G>T (n.-34-99G>T) | gnomAD v4 |
| X | g.48683722C>A | CA2693642788 | WAS | c.-34-98C>A (n.-34-98C>A) | gnomAD v4 |
| X | g.48683722C>T | CA2531590487 | WAS | c.-34-98C>T (n.-34-98C>T) | gnomAD v4 |
| X | g.48683723C>T | CA2693642789 | WAS | c.-34-97C>T (n.-34-97C>T) | gnomAD v4 |
| X | g.48683724C>A | CA2693642790 | WAS | c.-34-96C>A (n.-34-96C>A) | gnomAD v4 |
| X | g.48683726T>C | CA329099807 | WAS | c.-34-94T>C (n.-34-94T>C) | dbSNP gnomAD v4 |
| X | g.48683726T= | CA2428354112 | WAS | c.-34-94T= (n.-34-94T=) | |
| 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 |