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.48683609A>G | CA2820814500 | WAS | c.-34-211A>G (n.-34-211A>G) | |
| X | g.48683610G>A | CA875913347 | WAS | c.-34-210G>A (n.-34-210G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683610G= | CA2428354067 | WAS | c.-34-210G= (n.-34-210G=) | |
| X | g.48683613C>A | CA875913348 | WAS | c.-34-207C>A (n.-34-207C>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683613C= | CA2428354068 | WAS | c.-34-207C= (n.-34-207C=) | |
| X | g.48683623T>A | CA641510464 | WAS | c.-34-197T>A (n.-34-197T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683623T= | CA2428354069 | WAS | c.-34-197T= (n.-34-197T=) | |
| X | g.48683629A>C | CA2820814501 | WAS | c.-34-191A>C (n.-34-191A>C) | |
| X | g.48683629A>G | CA2693642713 | WAS | c.-34-191A>G (n.-34-191A>G) | gnomAD v4 |
| X | g.48683630G>A | CA875913360 | WAS | c.-34-190G>A (n.-34-190G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683630G= | CA2428354070 | WAS | c.-34-190G= (n.-34-190G=) | |
| X | g.48683630G>T | CA2820814502 | WAS | c.-34-190G>T (n.-34-190G>T) | |
| X | g.48683631G>A | CA2693642714 | WAS | c.-34-189G>A (n.-34-189G>A) | gnomAD v4 |
| X | g.48683632T>C | CA2693642716 | WAS | c.-34-188T>C (n.-34-188T>C) | gnomAD v4 |
| X | g.48683632T>G | CA2693642715 | WAS | c.-34-188T>G (n.-34-188T>G) | gnomAD v4 |
| X | g.48683633G>A | CA1132960260 | WAS | c.-34-187G>A (n.-34-187G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683633G= | CA2428354071 | WAS | c.-34-187G= (n.-34-187G=) | |
| X | g.48683633G>T | CA2693642717 | WAS | c.-34-187G>T (n.-34-187G>T) | gnomAD v4 |
| X | g.48683634G>A | CA2693642718 | WAS | c.-34-186G>A (n.-34-186G>A) | gnomAD v4 |
| X | g.48683634G>T | CA2693642719 | WAS | c.-34-186G>T (n.-34-186G>T) | gnomAD v4 |
| X | g.48683637C>A | CA2693642720 | WAS | c.-34-183C>A (n.-34-183C>A) | gnomAD v4 |
| X | g.48683638T>C | CA2693642721 | WAS | c.-34-182T>C (n.-34-182T>C) | gnomAD v4 |
| X | g.48683640del | CA2693642722 | WAS | c.-34-180del (n.-34-180del) | gnomAD v4 |
| X | g.48683640A>T | CA2693642723 | WAS | c.-34-180A>T (n.-34-180A>T) | gnomAD v4 |
| X | g.48683641G>A | CA2428354073 | WAS | c.-34-179G>A (n.-34-179G>A) | dbSNP gnomAD v4 |
| X | g.48683641G= | CA2428354072 | WAS | c.-34-179G= (n.-34-179G=) | |
| X | g.48683642C>A | CA2693642724 | WAS | c.-34-178C>A (n.-34-178C>A) | gnomAD v4 |
| X | g.48683642C>T | CA2693642725 | WAS | c.-34-178C>T (n.-34-178C>T) | gnomAD v4 |
| X | g.48683643A>G | CA2820814503 | WAS | c.-34-177A>G (n.-34-177A>G) | |
| X | g.48683644G= | CA2428354074 | WAS | c.-34-176G= (n.-34-176G=) | |
| X | g.48683644G>T | CA2428354075 | WAS | c.-34-176G>T (n.-34-176G>T) | dbSNP gnomAD v4 |
| X | g.48683646C>A | CA2693642726 | WAS | c.-34-174C>A (n.-34-174C>A) | gnomAD v4 |
| X | g.48683646C>T | CA2693642727 | WAS | c.-34-174C>T (n.-34-174C>T) | gnomAD v4 |
| X | g.48683646_48683647delinsCA | CA2428354076 | WAS | c.-34-174_-34-173delinsCA (n.-34-174_-34-173delinsCA) | |
| X | g.48683647A>C | CA2693642728 | WAS | c.-34-173A>C (n.-34-173A>C) | gnomAD v4 |
| X | g.48683648del | CA2428354077 | WAS | c.-34-172del (n.-34-172del) | dbSNP |
| X | g.48683648A>G | CA2693642729 | WAS | c.-34-172A>G (n.-34-172A>G) | gnomAD v4 |
| X | g.48683649G>A | CA2693642730 | WAS | c.-34-171G>A (n.-34-171G>A) | gnomAD v4 |
| X | g.48683650T>A | CA2693642731 | WAS | c.-34-170T>A (n.-34-170T>A) | gnomAD v4 |
| X | g.48683651G>T | CA2693642732 | WAS | c.-34-169G>T (n.-34-169G>T) | gnomAD v4 |
| X | g.48683653A>G | CA2693642733 | WAS | c.-34-167A>G (n.-34-167A>G) | gnomAD v4 |
| X | g.48683654G>T | CA2693642734 | WAS | c.-34-166G>T (n.-34-166G>T) | gnomAD v4 |
| X | g.48683655G>A | CA329099792 | WAS | c.-34-165G>A (n.-34-165G>A) | dbSNP |
| X | g.48683655G= | CA2428354078 | WAS | c.-34-165G= (n.-34-165G=) | |
| X | g.48683656A>G | CA2693642735 | WAS | c.-34-164A>G (n.-34-164A>G) | gnomAD v4 |
| X | g.48683656A>T | CA2693642736 | WAS | c.-34-164A>T (n.-34-164A>T) | gnomAD v4 |
| X | g.48683657G>C | CA2693642737 | WAS | c.-34-163G>C (n.-34-163G>C) | gnomAD v4 |
| X | g.48683658G>A | CA875913372 | WAS | c.-34-162G>A (n.-34-162G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683658G= | CA2428354079 | WAS | c.-34-162G= (n.-34-162G=) | |
| X | g.48683658G>T | CA2693642738 | WAS | c.-34-162G>T (n.-34-162G>T) | gnomAD v4 |
| X | g.48683659G>A | CA2693642739 | WAS | c.-34-161G>A (n.-34-161G>A) | gnomAD v4 |
| X | g.48683659G>C | CA875913375 | WAS | c.-34-161G>C (n.-34-161G>C) | dbSNP |
| X | g.48683659G= | CA2428354080 | WAS | c.-34-161G= (n.-34-161G=) | |
| X | g.48683660T>G | CA2693642740 | WAS | c.-34-160T>G (n.-34-160T>G) | gnomAD v4 |
| X | g.48683662C>A | CA2428354082 | WAS | c.-34-158C>A (n.-34-158C>A) | dbSNP gnomAD v4 |
| X | g.48683662C= | CA2428354081 | WAS | c.-34-158C= (n.-34-158C=) | |
| X | g.48683665A>T | CA2693642741 | WAS | c.-34-155A>T (n.-34-155A>T) | gnomAD v4 |
| X | g.48683666T>C | CA2693642742 | WAS | c.-34-154T>C (n.-34-154T>C) | gnomAD v4 |
| X | g.48683667C>A | CA2693642743 | WAS | c.-34-153C>A (n.-34-153C>A) | gnomAD v4 |
| X | g.48683669G>T | CA2693642744 | WAS | c.-34-151G>T (n.-34-151G>T) | gnomAD v4 |
| X | g.48683671T>C | CA2693642745 | WAS | c.-34-149T>C (n.-34-149T>C) | gnomAD v4 |
| X | g.48683673G>A | CA2428354084 | WAS | c.-34-147G>A (n.-34-147G>A) | dbSNP |
| X | g.48683673G= | CA2428354083 | WAS | c.-34-147G= (n.-34-147G=) | |
| X | g.48683673G>T | CA2693642746 | WAS | c.-34-147G>T (n.-34-147G>T) | gnomAD v4 |
| X | g.48683674C>A | CA2693642747 | WAS | c.-34-146C>A (n.-34-146C>A) | gnomAD v4 |
| X | g.48683674C= | CA2428354085 | WAS | c.-34-146C= (n.-34-146C=) | |
| X | g.48683674C>T | CA1132960262 | WAS | c.-34-146C>T (n.-34-146C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683675G>A | CA875913383 | WAS | c.-34-145G>A (n.-34-145G>A) | dbSNP gnomAD v4 |
| X | g.48683675G= | CA2428354086 | WAS | c.-34-145G= (n.-34-145G=) | |
| X | g.48683676G>A | CA2693642748 | WAS | c.-34-144G>A (n.-34-144G>A) | gnomAD v4 |
| X | g.48683676G>T | CA2693642749 | WAS | c.-34-144G>T (n.-34-144G>T) | gnomAD v4 |
| X | g.48683677A= | CA2428354087 | WAS | c.-34-143A= (n.-34-143A=) | |
| X | g.48683677A>G | CA329099795 | WAS | c.-34-143A>G (n.-34-143A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683677dup | CA2693642750 | WAS | c.-34-143dup (n.-34-143dup) | gnomAD v4 |
| X | g.48683679G>A | CA2693642751 | WAS | c.-34-141G>A (n.-34-141G>A) | gnomAD v4 |
| X | g.48683679G>T | CA2693642752 | WAS | c.-34-141G>T (n.-34-141G>T) | gnomAD v4 |
| X | g.48683680G>A | CA2693642753 | WAS | c.-34-140G>A (n.-34-140G>A) | gnomAD v4 |
| X | g.48683680G= | CA2428354088 | WAS | c.-34-140G= (n.-34-140G=) | |
| X | g.48683680G>T | CA2428354089 | WAS | c.-34-140G>T (n.-34-140G>T) | dbSNP gnomAD v4 |
| X | g.48683681C>A | CA2693642754 | WAS | c.-34-139C>A (n.-34-139C>A) | gnomAD v4 |
| X | g.48683681C>T | CA2693642755 | WAS | c.-34-139C>T (n.-34-139C>T) | gnomAD v4 |
| X | g.48683683_48683697del | CA2693642756 | WAS | c.-34-137_-34-123del (n.-34-137_-34-123del) | gnomAD v4 |
| X | g.48683683C= | CA2428354090 | WAS | c.-34-137C= (n.-34-137C=) | |
| X | g.48683683C>G | CA2428354091 | WAS | c.-34-137C>G (n.-34-137C>G) | dbSNP gnomAD v4 |
| X | g.48683684A= | CA2428354092 | WAS | c.-34-136A= (n.-34-136A=) | |
| X | g.48683684A>G | CA875913386 | WAS | c.-34-136A>G (n.-34-136A>G) | dbSNP gnomAD v4 |
| X | g.48683685A>G | CA2693642757 | WAS | c.-34-135A>G (n.-34-135A>G) | gnomAD v4 |
| X | g.48683686G>A | CA2693642758 | WAS | c.-34-134G>A (n.-34-134G>A) | gnomAD v4 |
| X | g.48683686G>C | CA2693642759 | WAS | c.-34-134G>C (n.-34-134G>C) | gnomAD v4 |
| X | g.48683686G>T | CA2693642760 | WAS | c.-34-134G>T (n.-34-134G>T) | gnomAD v4 |
| X | g.48683687C>A | CA2693642761 | WAS | c.-34-133C>A (n.-34-133C>A) | gnomAD v4 |
| X | g.48683689C>A | CA2693642762 | WAS | c.-34-131C>A (n.-34-131C>A) | gnomAD v4 |
| X | g.48683690A>G | CA2693642763 | WAS | c.-34-130A>G (n.-34-130A>G) | gnomAD v4 |
| X | g.48683691G>T | CA2693642764 | WAS | c.-34-129G>T (n.-34-129G>T) | gnomAD v4 |
| X | g.48683692C>A | CA2693642765 | WAS | c.-34-128C>A (n.-34-128C>A) | gnomAD v4 |
| X | g.48683693C>A | CA2693642766 | WAS | c.-34-127C>A (n.-34-127C>A) | gnomAD v4 |
| X | g.48683694T>C | CA875913391 | WAS | c.-34-126T>C (n.-34-126T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683694T= | CA2428354093 | WAS | c.-34-126T= (n.-34-126T=) | |
| X | g.48683695A>G | CA2693642767 | WAS | c.-34-125A>G (n.-34-125A>G) | gnomAD v4 |
| X | g.48683697C>A | CA2693642768 | WAS | c.-34-123C>A (n.-34-123C>A) | gnomAD v4 |
| X | g.48683697C= | CA2428354094 | WAS | c.-34-123C= (n.-34-123C=) | |
| X | g.48683697C>G | CA2428354095 | WAS | c.-34-123C>G (n.-34-123C>G) | dbSNP |
| X | g.48683697C>T | CA875913392 | WAS | c.-34-123C>T (n.-34-123C>T) | dbSNP gnomAD v4 |
| 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) |