OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48681722_48688043delinsTGAAGAGACTCCAGTGAATCCTCACTGCCCTTCCTTCCCTCCCTTCATAGTGAAACCCTCTTGCCCTCTCCTGCCCAAAGAGACTCTGAGGGGCCAGAATTAATGAATGAGACTGAATGAGTGAATGAGTATAGGCAGGAGTTATGGAATTAGAAGGGCTCCATAGTTTGTGGTGCTGATCCATCCACCCATCCCTCTTTCCCCATCTATCCCATGCATTTGTCCACCTATTCATTCACATTCATCTGTTGGACTACTGATCTGTCCATACATCTGTCTCTGCAACTATCTGCCCACATATGTCTGTTCACCCATTTGTCCACCAGTCTGTCCTCACACACACTTGTCCATCCACCCATCCACCTACCCATGTGCCCACCTTTCCATCTATCCATCCACTCATTTTTCTACCCATGCAACCACACACTTCTGTTCACTTATCCATTGAACTGTCCATTCATCCACGTATCTGTCCACCTGTCCATCCCCATCCACCTTGTCTGTGAGCCAATCAGCCTGCATATCAATCTGTCCACACACCTATCCACTCACCCATCTATCTATCCACGCACCTCCCATCAACCCATCCACCCATAAACTTGTCCATCCAACCACTTATCCATTCATTCTTCAACCCATTCATTCATCCATTCATTTATCCATCCATCCACCCATCCACTCACCCACCTACCCACCAGCCCTTCTCATCCATCATCTACCTCATCTATCTATCCATTTGTTCACCTGCCCACCCACCTGCTCTCCTAACAGCCCACCCAGAGTGGGCCCAGGGTGAGGCAAGTAAGGTGCCTAGGGTGCAAAATTTAAGTGAGTCACTCACTCTGAGAGTCAGGAATTACAGTTGCATGCCTCTGAGAGTGAGTGCCTCCTTAAATTTTGTACCCTTGGTGCCTTATTTACCTCTCCCTAGACCCAGCCCTGCACCTACCTATCCAACCACCCATTTACCCACTCAGCCACCCAGCCATCTGCCCATCTGCCCATCCTTCCATTCACTCAGCTGTCCACTTGTTCATGTGCCCCTCTGCCCCCAGGAATCTGTGGGTCCACTGGGGAGTGGCTCTCACTTGAATCCACTGGGTGCACCAATATCAGCTTTGCTGATCTTCTTCTTCCCTGAGCGTTTCTTATCAGCTGGGCTAGGTCCAGGTGCTGGGAGCCCACGGTATCGTGAACTCGTGATGTCAGGGTTCTGGATGTCCACTGTCGCCAGCCCCAGGGAGAGCGGACCCACTGGAGGGCCTGTGGGGAAAATAGGGTGGTTGGCTCATTGACCCACTTACCAACCAACCAAAGCACAGGGGCAAGAAACGGAAGCCTTGAGGGAAATCTGTGTGTGTGTTGGATGGTCATGGAGGTAGTGGGTGAAGGGTTCAAGTAGGGTCTATGGAGAAGTGGGTGGATCCCACAAACCATTCATACATTCACTGATTCATTCATGTTTTCATTCCCTCATGCTTTATCATTCACTGGCTCATTGACTAATGAATTTGTTAAAATATTCATTTACTCATTTATTCATTCAATCATGCTTTCTTCACTGACTGAAACTTGTCATTTAGTCATTTATTCACTGTTCATTCATTCACTCATTGATTAATTTACTCAGTCATCCATCTACCTTTTCATTCATTTATCCACATACCCATTCACCTATGCATCTATCTACTTAGACTTTCATCCTCCCATCAATTCATCCCTCTACTCAGCCATCTACCGCCAATCCATCCACCCATCCATCAGTCCACACATCCATGCACCTGCTCGTCCATCCACATACCTATCAATCTACCTATCCATTCACCCACTTACGCACCCATCCAACTCCTCATTCCTCCATCCACTCTTACCCATCCATCCAGAGACACAGGGAAGAATCAGCACGCACCTCCTTGGTCTCCACCTGGATGCAGGGGCAGGGGTGGGAGCCCTCCTCTTCTCTCTGGGAAGATGGAATGTGTAGAGAGTTATCACAGCCCTGCCACAGGTTCCTGGGCTAGCCCCTTATTACCCCTACTTGCACTAGAGGACTCACCTTCATTGGCTGGTGTTGGTGGTGGGGGTAGCTGGCGTCTGTCTGTGGATAGATGGATTGGGAGCCAGGACCATGAGAGGGGACTTTTCTAGTTCCCCAGGCTTGCACTCACCTCTGCCCAACTTCCTTTCCTCCCCTGTGGCCTCCTCACCTCCACTTTGCCTCTGATTCCTTTTTTGTATCTTCTCCTGCACGAGGGCCCGGAAGGCCTGGGCCTCGTCCTCGTCTGCAAAGTTCAGCCCCGCTTGGCAGTCCTGCACATACCTTGGGGTCAGCCGCCTCCCAGGTCCCCCGCAACTTTCCCATCTCCTCTCCACACCCCAAGTGAGGCCCGAGGGCTGGTTGATCACTTACATCTCCAGCGAAGGTGTGGAAGAAGGGGGTGGGGGTGGAGTAGACAAGCTGTGAGTACAGCTCCTGTTCCCAGAGCAGCCGACCAGCCTGGAGAGGTGTAGGGTGGGAGGCACAGTGGCACTGAGGCACGCCGGGGGTGGCAGGCTTTTGTTAGCTGGGCAGGGAGCAGGGTGTCTGGATTTGGGAGCCTCATAGTCTGGTTTGGAGATTTTCAGCTCAGCACCAGAGAGTTGGTGTCTAAGGGTGTGGATTGTGGGGTATAGTCTGGGAGCCATACACTTTTGTGAGAGGTTTGGATTTGGGGTTTGGGGCCCTAGATCTGGGACTTGGGGGCTTGAATTTCATAATTTAGGACTCTAGTCTTAGGAAGTTGAGGCTCATTCACAGATTCAATCCATGCCCTCCCCCACCACCCCAGCCCCAATTCATGACAGGTAGGATTCTAGTATTTGGGGGTTGGAGTTGAGATTTGAAGTTCAGACACATAGACTTGGGAGTTTCGCGGGGAGTCCAGCTAAAGTAAGTGCAATTTGGGGTTTGTGGAGAGAGTTATGGTTTAGGAGTTTGGTGGATATTTGATAGCCTTGGGATCTGGAAGTTATGCTGGGTCCATCTTTATGGGTTTAAAAGGATGAATTTGGGGCTTAAACCTAGAAAGTTCAGGTCAGGGGATTGTGGAAAAGACTTTTTGCTTAAGAACTACCTCGGTATTTGAGTGTTCAGGAATTTTAATATGGGAACTCTGGGGTCTGTGCTGTGGATTTAGAAGGACAGATTTGGAGTTCAAGGATCAATGGAATATTCAACTTTGGGGTTTGTTGAACAGATTTATGACTTAGGAGCTTGGCAAACATCTGGGGTTCAGGAGTTTTGATGAGAGATTCCTGGGATGCAAAATGTTGAGTTTAGAATAGATTTGAGGTTCAGGTACAAATACAGTGCTCATTTATTGGAATTTGTGGAAAAGATTAGGCTTAGGCAGCAGACTAATACTGGGGGCTTTAGAGATCTTGATACGGAGACTGGGGCCAGTCATTGCAGACTTAGAAAGGCAAGTCAGAGTTTGCCATCTGGATGAGTCTTTGGTTCTGGGGCTCAGGGATTCACTGATCAGGTCTGAGGTCTTGAAGCTATGGACACATATGGACACAGATCTGGGTTTGCGGGTTGAGAACTGGCTTGCAAGTCCAGTCGGGGGTGGGGGGGTCACCTGAAGGCCGTAAAGGCGGATGAAGTAGGACTTCTGGGGGTTATCCTTCACGAAGCACACAGCCCCACAATGCTCCTTGGTCCAGTGCTCAGCTCCAGGGGGCAGCGCCAGGTACAGCTGAACAACTGCAGTGGCCAGCGTCTGGGAGAGGAAAGCAGGGGTCAGTGGAGTCTGGTCAGGGGTAGCCACAAGGTCTTGGAGCCAGACCTGGTCCTTCCTGCCTCATGACAGTCATGGGCCCAAAGGAAGAGCTGCAGCCAGAGGGAAGGCAAGTAGACATTGAGATCTTCCTGGGAAGGGTGGATTATGACGGGAAATTCTAGGAGAGGAGATGATGGAGAGGGAAAGGAGGAGCGGGAGGAGGGGAAGAGAGAGAAGGAGGAGAGGAAGAGGAAGAAACGGTGGGGACGGGGCGGGGGCAGGAGATCCCCAGCTCACCAAGCATTTTCGTCCAAGCATCTCAAAGAGTCGCTGGTTCTCGTGGTCCTGGAGGAGGGTGGAGGGTATGTTCTGCTGAACCGCTGGTGCTCCTCGGCCCCCGGGCCTTCCTCCCATTGGGCCCCCACTCATGGTGCTTTCTGCCCTTGTCTTCTCTGGCGAGGCTCTGGGTGCAGGGTAAGAAGAGGAACTTCCGCAATGAGCAGCAAGGGAACAGGAAATGCAAAAAACCACAAGGGACAAGGGAAACAAGTCCTCCAGGGGCCCCTTGGTGGGCCTGGCCTCCTCGTTAGGCTGAGCTTGGGCCCTCCGCCATCAGATTGGAACCCTCCTCCACTTGACTGCTTAGACCCACCTTTTGGATCAGCTTGGGTCCTCCTCCCCCTTTCTTACTCTCTGGGGCCCATCTCCTTCTGACTGGCTCAGACCCTCCTCCCTCTGGCTGGCAGCGAGAGCTTAGCACATCTGTGTGCAGGGCTCCCTGTGGCAAGGAGTAGTCATGGGCCTGGGTGGCCTCCTTTCTAAAGCACCTAGGTAGCCTGAGGCTGAGGCCCGAGGTCCCTAGTCCGGAAGGGTTACTACAGTAAAACTTTTCCTTTTGGCTGGGGACAATAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGAGTGGATCACTTGAGGTCAGGAGTTCAAGACGAGCCTGGGCAACATGGCAAAACCCCATTTCCACTAAAAAATACAAAAATTAGCCAGGCATGGTGGCACACACCTGTAGTCCTAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGACTGCACCACTGCACTCCAGCCTGGATGATGACAGAGCAAGACCCTTGTCTCAAAAACAGCAACAACAACAACACAACAAAAACCCTTTTCCTTTTAATTACAGAGCGAGCCCCTGTGATCCACGCCTATCGTGAGTGCTTAGACACTGCCAATGACGCATATGCCTCTGGTCCACTTCCCCATCCCTTACCCTTGCCTCCCCGCAGCTCCCAAATTACTTTCTGCTTGTCATACTTTTTTTTTTCTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCGGTGGCACGATCTCGGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATTTCTCGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTATTAGAATTACAGGCGTGAGCCACCGTGCCCAGCCCATCCCTTTTTTAAAGAAAGGAACTTTATATCATATATGAATGCCTGAACAACATCTTGTTTAGTTTTCATTGCACTTGAAGTTTGTAAAAGCACATAATCTTCAAAGGCTTGCTTTCTCCCCACTGGACATCCTAGTTTTATCTTAACACTCACATAGCACTTAACGTGTGTGCCAGTCACTGTTCTGACCCCTTTGCCCGGAGTGCGAGCCAGGCAGGCCAGGTGTGAGTGCATGGTCTCGTCCCTCCACGCCTTCACTCTTGGCTGTTGCTGTGATTCCTGTTTGCCTATAGTGGTAGCTGTTCATTTATTTCCACTGCCATACAGCATTCCATGGTGTGCATGTGCAGCCTGGGTGTCCATATTCTCCTGTAACAGCCCTTTGGGCTGCTTCTGGTTCTTGCTGTTGGGAGCAACACTGCAGTGTTCACTCCCGCACACATCTCCTGGTCCACATAGGCATGCAGACTCTCAGACGGGAATCTGAGGGCTGTAGGGTTTGCATGTCTCTAACTTCTCCAGATGATGCCAGACTATTTCCACAAGTGAATGCTAGCTCAGTCCCCGGCCTCCCCAGGCCTCAGTTTCCCCATGTATGAGGTAGGCCATTTGGAGACTTGAAGCTCTCAGATACAGGAACAGCAGTTTGGGGGAGCTGAGCAGGTCTGGGGTGTGACTGACATTCCCAGGTACCTGAAGGAGGAACGGCACATCTCCAGTTGGGACCTGCAGTCCTTCCTGGAAACTTCCATGGCTTCCCACACGTGCAGGTTCAAAGCCTCTCTCCTGAACCTAGGTTCAGAACCCCTTCTGCAGTGGCAGTTCCAACCTCCCTCCCGTGTCCCCACTCACAGCTAAGCTTCGGGCCTGGAGCACCTCCAACCTGCTG | CA915951079 | WAS | c.-34-2098_735-11delinsTGAAGAGACTCCAGTGAATCCTCACTGCCCTTCCTTCCCTCCCTTCATAGTGAAACCCTCTTGCCCTCTCCTGCCCAAAGAGACTCTGAGGGGCCAGAATTAATGAATGAGACTGAATGAGTGAATGAGTATAGGCAGGAGTTATGGAATTAGAAGGGCTCCATAGTTTGTGGTGCTGATCCATCCACCCATCCCTCTTTCCCCATCTATCCCATGCATTTGTCCACCTATTCATTCACATTCATCTGTTGGACTACTGATCTGTCCATACATCTGTCTCTGCAACTATCTGCCCACATATGTCTGTTCACCCATTTGTCCACCAGTCTGTCCTCACACACACTTGTCCATCCACCCATCCACCTACCCATGTGCCCACCTTTCCATCTATCCATCCACTCATTTTTCTACCCATGCAACCACACACTTCTGTTCACTTATCCATTGAACTGTCCATTCATCCACGTATCTGTCCACCTGTCCATCCCCATCCACCTTGTCTGTGAGCCAATCAGCCTGCATATCAATCTGTCCACACACCTATCCACTCACCCATCTATCTATCCACGCACCTCCCATCAACCCATCCACCCATAAACTTGTCCATCCAACCACTTATCCATTCATTCTTCAACCCATTCATTCATCCATTCATTTATCCATCCATCCACCCATCCACTCACCCACCTACCCACCAGCCCTTCTCATCCATCATCTACCTCATCTATCTATCCATTTGTTCACCTGCCCACCCACCTGCTCTCCTAACAGCCCACCCAGAGTGGGCCCAGGGTGAGGCAAGTAAGGTGCCTAGGGTGCAAAATTTAAGTGAGTCACTCACTCTGAGAGTCAGGAATTACAGTTGCATGCCTCTGAGAGTGAGTGCCTCCTTAAATTTTGTACCCTTGGTGCCTTATTTACCTCTCCCTAGACCCAGCCCTGCACCTACCTATCCAACCACCCATTTACCCACTCAGCCACCCAGCCATCTGCCCATCTGCCCATCCTTCCATTCACTCAGCTGTCCACTTGTTCATGTGCCCCTCTGCCCCCAGGAATCTGTGGGTCCACTGGGGAGTGGCTCTCACTTGAATCCACTGGGTGCACCAATATCAGCTTTGCTGATCTTCTTCTTCCCTGAGCGTTTCTTATCAGCTGGGCTAGGTCCAGGTGCTGGGAGCCCACGGTATCGTGAACTCGTGATGTCAGGGTTCTGGATGTCCACTGTCGCCAGCCCCAGGGAGAGCGGACCCACTGGAGGGCCTGTGGGGAAAATAGGGTGGTTGGCTCATTGACCCACTTACCAACCAACCAAAGCACAGGGGCAAGAAACGGAAGCCTTGAGGGAAATCTGTGTGTGTGTTGGATGGTCATGGAGGTAGTGGGTGAAGGGTTCAAGTAGGGTCTATGGAGAAGTGGGTGGATCCCACAAACCATTCATACATTCACTGATTCATTCATGTTTTCATTCCCTCATGCTTTATCATTCACTGGCTCATTGACTAATGAATTTGTTAAAATATTCATTTACTCATTTATTCATTCAATCATGCTTTCTTCACTGACTGAAACTTGTCATTTAGTCATTTATTCACTGTTCATTCATTCACTCATTGATTAATTTACTCAGTCATCCATCTACCTTTTCATTCATTTATCCACATACCCATTCACCTATGCATCTATCTACTTAGACTTTCATCCTCCCATCAATTCATCCCTCTACTCAGCCATCTACCGCCAATCCATCCACCCATCCATCAGTCCACACATCCATGCACCTGCTCGTCCATCCACATACCTATCAATCTACCTATCCATTCACCCACTTACGCACCCATCCAACTCCTCATTCCTCCATCCACTCTTACCCATCCATCCAGAGACACAGGGAAGAATCAGCACGCACCTCCTTGGTCTCCACCTGGATGCAGGGGCAGGGGTGGGAGCCCTCCTCTTCTCTCTGGGAAGATGGAATGTGTAGAGAGTTATCACAGCCCTGCCACAGGTTCCTGGGCTAGCCCCTTATTACCCCTACTTGCACTAGAGGACTCACCTTCATTGGCTGGTGTTGGTGGTGGGGGTAGCTGGCGTCTGTCTGTGGATAGATGGATTGGGAGCCAGGACCATGAGAGGGGACTTTTCTAGTTCCCCAGGCTTGCACTCACCTCTGCCCAACTTCCTTTCCTCCCCTGTGGCCTCCTCACCTCCACTTTGCCTCTGATTCCTTTTTTGTATCTTCTCCTGCACGAGGGCCCGGAAGGCCTGGGCCTCGTCCTCGTCTGCAAAGTTCAGCCCCGCTTGGCAGTCCTGCACATACCTTGGGGTCAGCCGCCTCCCAGGTCCCCCGCAACTTTCCCATCTCCTCTCCACACCCCAAGTGAGGCCCGAGGGCTGGTTGATCACTTACATCTCCAGCGAAGGTGTGGAAGAAGGGGGTGGGGGTGGAGTAGACAAGCTGTGAGTACAGCTCCTGTTCCCAGAGCAGCCGACCAGCCTGGAGAGGTGTAGGGTGGGAGGCACAGTGGCACTGAGGCACGCCGGGGGTGGCAGGCTTTTGTTAGCTGGGCAGGGAGCAGGGTGTCTGGATTTGGGAGCCTCATAGTCTGGTTTGGAGATTTTCAGCTCAGCACCAGAGAGTTGGTGTCTAAGGGTGTGGATTGTGGGGTATAGTCTGGGAGCCATACACTTTTGTGAGAGGTTTGGATTTGGGGTTTGGGGCCCTAGATCTGGGACTTGGGGGCTTGAATTTCATAATTTAGGACTCTAGTCTTAGGAAGTTGAGGCTCATTCACAGATTCAATCCATGCCCTCCCCCACCACCCCAGCCCCAATTCATGACAGGTAGGATTCTAGTATTTGGGGGTTGGAGTTGAGATTTGAAGTTCAGACACATAGACTTGGGAGTTTCGCGGGGAGTCCAGCTAAAGTAAGTGCAATTTGGGGTTTGTGGAGAGAGTTATGGTTTAGGAGTTTGGTGGATATTTGATAGCCTTGGGATCTGGAAGTTATGCTGGGTCCATCTTTATGGGTTTAAAAGGATGAATTTGGGGCTTAAACCTAGAAAGTTCAGGTCAGGGGATTGTGGAAAAGACTTTTTGCTTAAGAACTACCTCGGTATTTGAGTGTTCAGGAATTTTAATATGGGAACTCTGGGGTCTGTGCTGTGGATTTAGAAGGACAGATTTGGAGTTCAAGGATCAATGGAATATTCAACTTTGGGGTTTGTTGAACAGATTTATGACTTAGGAGCTTGGCAAACATCTGGGGTTCAGGAGTTTTGATGAGAGATTCCTGGGATGCAAAATGTTGAGTTTAGAATAGATTTGAGGTTCAGGTACAAATACAGTGCTCATTTATTGGAATTTGTGGAAAAGATTAGGCTTAGGCAGCAGACTAATACTGGGGGCTTTAGAGATCTTGATACGGAGACTGGGGCCAGTCATTGCAGACTTAGAAAGGCAAGTCAGAGTTTGCCATCTGGATGAGTCTTTGGTTCTGGGGCTCAGGGATTCACTGATCAGGTCTGAGGTCTTGAAGCTATGGACACATATGGACACAGATCTGGGTTTGCGGGTTGAGAACTGGCTTGCAAGTCCAGTCGGGGGTGGGGGGGTCACCTGAAGGCCGTAAAGGCGGATGAAGTAGGACTTCTGGGGGTTATCCTTCACGAAGCACACAGCCCCACAATGCTCCTTGGTCCAGTGCTCAGCTCCAGGGGGCAGCGCCAGGTACAGCTGAACAACTGCAGTGGCCAGCGTCTGGGAGAGGAAAGCAGGGGTCAGTGGAGTCTGGTCAGGGGTAGCCACAAGGTCTTGGAGCCAGACCTGGTCCTTCCTGCCTCATGACAGTCATGGGCCCAAAGGAAGAGCTGCAGCCAGAGGGAAGGCAAGTAGACATTGAGATCTTCCTGGGAAGGGTGGATTATGACGGGAAATTCTAGGAGAGGAGATGATGGAGAGGGAAAGGAGGAGCGGGAGGAGGGGAAGAGAGAGAAGGAGGAGAGGAAGAGGAAGAAACGGTGGGGACGGGGCGGGGGCAGGAGATCCCCAGCTCACCAAGCATTTTCGTCCAAGCATCTCAAAGAGTCGCTGGTTCTCGTGGTCCTGGAGGAGGGTGGAGGGTATGTTCTGCTGAACCGCTGGTGCTCCTCGGCCCCCGGGCCTTCCTCCCATTGGGCCCCCACTCATGGTGCTTTCTGCCCTTGTCTTCTCTGGCGAGGCTCTGGGTGCAGGGTAAGAAGAGGAACTTCCGCAATGAGCAGCAAGGGAACAGGAAATGCAAAAAACCACAAGGGACAAGGGAAACAAGTCCTCCAGGGGCCCCTTGGTGGGCCTGGCCTCCTCGTTAGGCTGAGCTTGGGCCCTCCGCCATCAGATTGGAACCCTCCTCCACTTGACTGCTTAGACCCACCTTTTGGATCAGCTTGGGTCCTCCTCCCCCTTTCTTACTCTCTGGGGCCCATCTCCTTCTGACTGGCTCAGACCCTCCTCCCTCTGGCTGGCAGCGAGAGCTTAGCACATCTGTGTGCAGGGCTCCCTGTGGCAAGGAGTAGTCATGGGCCTGGGTGGCCTCCTTTCTAAAGCACCTAGGTAGCCTGAGGCTGAGGCCCGAGGTCCCTAGTCCGGAAGGGTTACTACAGTAAAACTTTTCCTTTTGGCTGGGGACAATAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGAGTGGATCACTTGAGGTCAGGAGTTCAAGACGAGCCTGGGCAACATGGCAAAACCCCATTTCCACTAAAAAATACAAAAATTAGCCAGGCATGGTGGCACACACCTGTAGTCCTAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGACTGCACCACTGCACTCCAGCCTGGATGATGACAGAGCAAGACCCTTGTCTCAAAAACAGCAACAACAACAACACAACAAAAACCCTTTTCCTTTTAATTACAGAGCGAGCCCCTGTGATCCACGCCTATCGTGAGTGCTTAGACACTGCCAATGACGCATATGCCTCTGGTCCACTTCCCCATCCCTTACCCTTGCCTCCCCGCAGCTCCCAAATTACTTTCTGCTTGTCATACTTTTTTTTTTCTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCAGGCTGGAGTGCGGTGGCACGATCTCGGCTCACTGCAACCTTTGCCTCCCGGGTTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATTTCTCGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTATTAGAATTACAGGCGTGAGCCACCGTGCCCAGCCCATCCCTTTTTTAAAGAAAGGAACTTTATATCATATATGAATGCCTGAACAACATCTTGTTTAGTTTTCATTGCACTTGAAGTTTGTAAAAGCACATAATCTTCAAAGGCTTGCTTTCTCCCCACTGGACATCCTAGTTTTATCTTAACACTCACATAGCACTTAACGTGTGTGCCAGTCACTGTTCTGACCCCTTTGCCCGGAGTGCGAGCCAGGCAGGCCAGGTGTGAGTGCATGGTCTCGTCCCTCCACGCCTTCACTCTTGGCTGTTGCTGTGATTCCTGTTTGCCTATAGTGGTAGCTGTTCATTTATTTCCACTGCCATACAGCATTCCATGGTGTGCATGTGCAGCCTGGGTGTCCATATTCTCCTGTAACAGCCCTTTGGGCTGCTTCTGGTTCTTGCTGTTGGGAGCAACACTGCAGTGTTCACTCCCGCACACATCTCCTGGTCCACATAGGCATGCAGACTCTCAGACGGGAATCTGAGGGCTGTAGGGTTTGCATGTCTCTAACTTCTCCAGATGATGCCAGACTATTTCCACAAGTGAATGCTAGCTCAGTCCCCGGCCTCCCCAGGCCTCAGTTTCCCCATGTATGAGGTAGGCCATTTGGAGACTTGAAGCTCTCAGATACAGGAACAGCAGTTTGGGGGAGCTGAGCAGGTCTGGGGTGTGACTGACATTCCCAGGTACCTGAAGGAGGAACGGCACATCTCCAGTTGGGACCTGCAGTCCTTCCTGGAAACTTCCATGGCTTCCCACACGTGCAGGTTCAAAGCCTCTCTCCTGAACCTAGGTTCAGAACCCCTTCTGCAGTGGCAGTTCCAACCTCCCTCCCGTGTCCCCACTCACAGCTAAGCTTCGGGCCTGGAGCACCTCCAACCTGCTG | ClinVar |
| 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.48683844_48683995del | CA1139532693 | WAS | n.24_165+10del c.-10_132+10del n.26_167+10del n.17_158+10del | |
| X | g.48683854del | CA2544846787 | WAS | n.34del c.1del (p.Met1Ter) n.36del n.27del | |
| X | g.48683854A= | CA2428354155 | WAS | n.34A= c.1A= (p.Met1=) n.36A= n.27A= | |
| X | g.48683854A>C | CA412864927 | WAS | n.34A>C c.1A>C (p.Met1Leu) n.36A>C n.27A>C | |
| X | g.48683854A>G | CA412864932 | WAS | n.34A>G c.1A>G (p.Met1Val) n.36A>G n.27A>G | |
| X | g.48683854A>T | CA341008 | WAS | n.34A>T c.1A>T (p.Met1Leu) n.36A>T n.27A>T | ClinVar dbSNP |
| X | g.48683855T>A | CA412864939 | WAS | n.35T>A c.2T>A (p.Met1Lys) n.37T>A n.28T>A | |
| X | g.48683855T>C | CA412864943 | WAS | n.35T>C c.2T>C (p.Met1Thr) n.37T>C n.28T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683855T>G | CA412864948 | WAS | n.35T>G c.2T>G (p.Met1Arg) n.37T>G n.28T>G | |
| X | g.48683855T= | CA2428354156 | WAS | n.35T= c.2T= (p.Met1=) n.37T= n.28T= | |
| X | g.48683856G>A | CA412864953 | WAS | n.36G>A c.3G>A (p.Met1Ile) n.38G>A n.29G>A | |
| X | g.48683856G>C | CA412864955 | WAS | n.36G>C c.3G>C (p.Met1Ile) n.38G>C n.29G>C | |
| X | g.48683856G>T | CA412864962 | WAS | n.36G>T c.3G>T (p.Met1Ile) n.38G>T n.29G>T | |
| X | g.48683857A>C | CA412864975 | WAS | n.37A>C c.4A>C (p.Ser2Arg) n.39A>C n.30A>C | |
| X | g.48683857A>G | CA412864972 | WAS | n.37A>G c.4A>G (p.Ser2Gly) n.39A>G n.30A>G | |
| X | g.48683857A>T | CA412864966 | WAS | n.37A>T c.4A>T (p.Ser2Cys) n.39A>T n.30A>T | |
| X | g.48683857_48683858insAATCC | CA2549879564 | WAS | n.37_38insAATCC c.4_5insAATCC (p.Ser2LysfsTer?) n.39_40insAATCC n.30_31insAATCC | |
| X | g.48683858G>A | CA412864981 | WAS | n.38G>A c.5G>A (p.Ser2Asn) n.40G>A n.31G>A | |
| X | g.48683858G>C | CA412864984 | WAS | n.38G>C c.5G>C (p.Ser2Thr) n.40G>C n.31G>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683858G= | CA2428354157 | WAS | n.38G= c.5G= (p.Ser2=) n.40G= n.31G= | |
| X | g.48683858G>T | CA412865006 | WAS | n.38G>T c.5G>T (p.Ser2Ile) n.40G>T n.31G>T | |
| X | g.48683859T>A | CA412865011 | WAS | n.39T>A c.6T>A (p.Ser2Arg) n.41T>A n.32T>A | gnomAD v4 |
| X | g.48683859T>C | CA516021723 | WAS | n.39T>C c.6T>C (p.Ser2=) n.41T>C n.32T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48683859T>G | CA412865017 | WAS | n.39T>G c.6T>G (p.Ser2Arg) n.41T>G n.32T>G | |
| X | g.48683859T= | CA2428354159 | WAS | n.39T= c.6T= (p.Ser2=) n.41T= n.32T= | |
| X | g.48683859_48683860delinsTG | CA2428354158 | WAS | n.39_40delinsTG c.6_7delinsTG (p.Ser2=) n.41_42delinsTG n.32_33delinsTG | |
| X | g.48683860G>A | CA412865023 | WAS | n.40G>A c.7G>A (p.Gly3Arg) n.42G>A n.33G>A | dbSNP |
| X | g.48683860G>C | CA412865027 | WAS | n.40G>C c.7G>C (p.Gly3Arg) n.42G>C n.33G>C | |
| X | g.48683860G= | CA2428354160 | WAS | n.40G= c.7G= (p.Gly3=) n.42G= n.33G= | |
| X | g.48683860G>T | CA412865032 | WAS | n.40G>T c.7G>T (p.Gly3Trp) n.42G>T n.33G>T | |
| X | g.48683864dup | CA2695233936 | WAS | n.44dup c.11dup (p.Met6AsnfsTer?) n.46dup n.37dup | |
| X | g.48683863_48683864dup | CA2695233937 | WAS | n.43_44dup c.10_11dup (p.Pro5AlafsTer?) n.45_46dup n.36_37dup | |
| X | g.48683864del | CA341015 | WAS | n.44del c.11del (p.Gly4AlafsTer?) n.46del n.37del | ClinVar dbSNP |
| X | g.48683861G>A | CA412865039 | WAS | n.41G>A c.8G>A (p.Gly3Glu) n.43G>A n.34G>A | |
| X | g.48683861G>C | CA412865043 | WAS | n.41G>C c.8G>C (p.Gly3Ala) n.43G>C n.34G>C | gnomAD v4 |
| X | g.48683861G>T | CA412865046 | WAS | n.41G>T c.8G>T (p.Gly3Val) n.43G>T n.34G>T | |
| X | g.48683862G>A | CA516021724 | WAS | n.42G>A c.9G>A (p.Gly3=) n.44G>A n.35G>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48683862G>C | CA516021725 | WAS | n.42G>C c.9G>C (p.Gly3=) n.44G>C n.35G>C | |
| X | g.48683862G= | CA2428354161 | WAS | n.42G= c.9G= (p.Gly3=) n.44G= n.35G= | |
| X | g.48683862G>T | CA10403828 | WAS | n.42G>T c.9G>T (p.Gly3=) n.44G>T n.35G>T | dbSNP ExAC |
| X | g.48683863G>A | CA412865064 | WAS | n.43G>A c.10G>A (p.Gly4Ser) n.45G>A n.36G>A | |
| X | g.48683863G>C | CA412865061 | WAS | n.43G>C c.10G>C (p.Gly4Arg) n.45G>C n.36G>C | |
| X | g.48683863G>T | CA412865067 | WAS | n.43G>T c.10G>T (p.Gly4Cys) n.45G>T n.36G>T | |
| X | g.48683863_48683864insTTGTT | CA2501157837 | WAS | n.43_44insTTGTT c.10_11insTTGTT (p.Gly4ValfsTer?) n.45_46insTTGTT n.36_37insTTGTT | |
| X | g.48683864G>A | CA412865073 | WAS | n.44G>A c.11G>A (p.Gly4Asp) n.46G>A n.37G>A | |
| X | g.48683864G>C | CA412865077 | WAS | n.44G>C c.11G>C (p.Gly4Ala) n.46G>C n.37G>C | |
| X | g.48683864G>T | CA412865083 | WAS | n.44G>T c.11G>T (p.Gly4Val) n.46G>T n.37G>T | |
| X | g.48683865C>A | CA516021732 | WAS | n.45C>A c.12C>A (p.Gly4=) n.47C>A n.38C>A | dbSNP gnomAD v4 |
| X | g.48683865C= | CA2428354162 | WAS | n.45C= c.12C= (p.Gly4=) n.47C= n.38C= | |
| X | g.48683865C>G | CA516021731 | WAS | n.45C>G c.12C>G (p.Gly4=) n.47C>G n.38C>G | |
| X | g.48683865C>T | CA516021733 | WAS | n.45C>T c.12C>T (p.Gly4=) n.47C>T n.38C>T | |
| X | g.48683866C>A | CA412865091 | WAS | n.46C>A c.13C>A (p.Pro5Thr) n.48C>A n.39C>A | |
| X | g.48683866C>G | CA412865094 | WAS | n.46C>G c.13C>G (p.Pro5Ala) n.48C>G n.39C>G | |
| X | g.48683866C>T | CA412865100 | WAS | n.46C>T c.13C>T (p.Pro5Ser) n.48C>T n.39C>T | |
| X | g.48683867C>A | CA412865103 | WAS | n.47C>A c.14C>A (p.Pro5Gln) n.49C>A n.40C>A | |
| X | g.48683867C>G | CA412865105 | WAS | n.47C>G c.14C>G (p.Pro5Arg) n.49C>G n.40C>G | |
| X | g.48683867C>T | CA412865109 | WAS | n.47C>T c.14C>T (p.Pro5Leu) n.49C>T n.40C>T | |
| X | g.48683868A>C | CA516021735 | WAS | n.48A>C c.15A>C (p.Pro5=) n.50A>C n.41A>C | |
| X | g.48683868A>G | CA516021737 | WAS | n.48A>G c.15A>G (p.Pro5=) n.50A>G n.41A>G | |
| X | g.48683868A>T | CA516021736 | WAS | n.48A>T c.15A>T (p.Pro5=) n.50A>T n.41A>T | |
| X | g.48683868_48683869del | CA2527386153 | WAS | n.48_49del c.15_16del (p.Met6GlyfsTer?) n.50_51del n.41_42del | |
| X | g.48683869A= | CA2428354163 | WAS | n.49A= c.16A= (p.Met6=) n.51A= n.42A= | |
| X | g.48683869A>C | CA412865112 | WAS | n.49A>C c.16A>C (p.Met6Leu) n.51A>C n.42A>C | |
| X | g.48683869A>G | CA10403829 | WAS | n.49A>G c.16A>G (p.Met6Val) n.51A>G n.42A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683869A>T | CA412865122 | WAS | n.49A>T c.16A>T (p.Met6Leu) n.51A>T n.42A>T | |
| X | g.48683870T>A | CA412865131 | WAS | n.50T>A c.17T>A (p.Met6Lys) n.52T>A n.43T>A | gnomAD v4 |
| X | g.48683870T>C | CA412865127 | WAS | n.50T>C c.17T>C (p.Met6Thr) n.52T>C n.43T>C | gnomAD v4 |
| X | g.48683870T>G | CA412865129 | WAS | n.50T>G c.17T>G (p.Met6Arg) n.52T>G n.43T>G | |
| X | g.48683870_48683871insTT | CA2507369089 | WAS | n.50_51insTT c.17_18insTT (p.Met6IlefsTer?) n.52_53insTT n.43_44insTT | |
| X | g.48683871G>A | CA412865137 | WAS | n.51G>A c.18G>A (p.Met6Ile) n.53G>A n.44G>A | dbSNP |
| X | g.48683871G>C | CA412865141 | WAS | n.51G>C c.18G>C (p.Met6Ile) n.53G>C n.44G>C | |
| X | g.48683871G= | CA2428354164 | WAS | n.51G= c.18G= (p.Met6=) n.53G= n.44G= | |
| X | g.48683871G>T | CA412865142 | WAS | n.51G>T c.18G>T (p.Met6Ile) n.53G>T n.44G>T | |
| X | g.48683871_48683872insCG | CA2534768052 | WAS | n.51_52insCG c.18_19insCG (p.Gly7ArgfsTer?) n.53_54insCG n.44_45insCG | |
| X | g.48683873del | CA2695233939 | WAS | n.53del c.20del (p.Gly7GlufsTer?) n.55del n.46del | |
| X | g.48683872_48683894del | CA2580101039 | WAS | n.52_74del c.19_41del (p.Gly7SerfsTer23) n.54_76del n.45_67del | ClinVar |
| X | g.48683872G>A | CA412865146 | WAS | n.52G>A c.19G>A (p.Gly7Arg) n.54G>A n.45G>A | |
| X | g.48683872G>C | CA412865150 | WAS | n.52G>C c.19G>C (p.Gly7Arg) n.54G>C n.45G>C | |
| X | g.48683872G= | CA2428354165 | WAS | n.52G= c.19G= (p.Gly7=) n.54G= n.45G= | |
| X | g.48683872G>T | CA16621415 | WAS | n.52G>T c.19G>T (p.Gly7Ter) n.54G>T n.45G>T | ClinVar dbSNP |
| X | g.48683872_48683873insT | CA2502436640 | WAS | n.52_53insT c.19_20insT (p.Gly7ValfsTer?) n.54_55insT n.45_46insT | |
| X | g.48683872_48683873insATT | CA2693642839 | WAS | n.52_53insATT c.19_20insATT (p.Gly7AspfsTer2) n.54_55insATT n.45_46insATT | gnomAD v4 |
| X | g.48683873G>A | CA412865176 | WAS | n.53G>A c.20G>A (p.Gly7Glu) n.55G>A n.46G>A | |
| X | g.48683873G>C | CA412865177 | WAS | n.53G>C c.20G>C (p.Gly7Ala) n.55G>C n.46G>C | dbSNP gnomAD v2 |
| X | g.48683873G= | CA2428354166 | WAS | n.53G= c.20G= (p.Gly7=) n.55G= n.46G= | |
| X | g.48683873G>T | CA412865182 | WAS | n.53G>T c.20G>T (p.Gly7Val) n.55G>T n.46G>T | |
| X | g.48683874A>C | CA516021740 | WAS | n.54A>C c.21A>C (p.Gly7=) n.56A>C n.47A>C | |
| X | g.48683874A>G | CA516021742 | WAS | n.54A>G c.21A>G (p.Gly7=) n.56A>G n.47A>G | |
| X | g.48683874A>T | CA516021741 | WAS | n.54A>T c.21A>T (p.Gly7=) n.56A>T n.47A>T | gnomAD v4 |
| X | g.48683874_48683875delinsAG | CA2428354167 | WAS | n.54_55delinsAG c.21_22delinsAG (p.Gly7=) n.56_57delinsAG n.47_48delinsAG | |
| X | g.48683875G>A | CA412865186 | WAS | n.55G>A c.22G>A (p.Gly8Arg) n.57G>A n.48G>A | |
| X | g.48683875G>C | CA412865188 | WAS | n.55G>C c.22G>C (p.Gly8Arg) n.57G>C n.48G>C | |
| X | g.48683875G>T | CA412865192 | WAS | n.55G>T c.22G>T (p.Gly8Ter) n.57G>T n.48G>T | |
| X | g.48683876del | CA915951081 | WAS | n.56del c.23del (p.Gly8GlufsTer?) n.58del n.49del | ClinVar dbSNP |
| X | g.48683876G>A | CA412865198 | WAS | n.56G>A c.23G>A (p.Gly8Glu) n.58G>A n.49G>A | |
| X | g.48683876G>C | CA412865200 | WAS | n.56G>C c.23G>C (p.Gly8Ala) n.58G>C n.49G>C | |
| X | g.48683876G>T | CA412865196 | WAS | n.56G>T c.23G>T (p.Gly8Val) n.58G>T n.49G>T | |
| X | g.48683876_48683881del | CA2562073455 | WAS | n.56_61del c.23_28del (p.Gly8_Pro10delinsAla) n.58_63del n.49_54del | |
| X | g.48683877A>C | CA516021743 | WAS | n.57A>C c.24A>C (p.Gly8=) n.59A>C n.50A>C | |
| X | g.48683877A>G | CA516021744 | WAS | n.57A>G c.24A>G (p.Gly8=) n.59A>G n.50A>G | |
| X | g.48683877A>T | CA516021745 | WAS | n.57A>T c.24A>T (p.Gly8=) n.59A>T n.50A>T | |
| X | g.48683878A>C | CA516021746 | WAS | n.58A>C c.25A>C (p.Arg9=) n.60A>C n.51A>C | |
| X | g.48683878A>G | CA412865204 | WAS | n.58A>G c.25A>G (p.Arg9Gly) n.60A>G n.51A>G | |
| X | g.48683878A>T | CA412865202 | WAS | n.58A>T c.25A>T (p.Arg9Trp) n.60A>T n.51A>T | |
| X | g.48683879G>A | CA412865212 | WAS | n.59G>A c.26G>A (p.Arg9Lys) n.61G>A n.52G>A | |
| X | g.48683879G>C | CA412865207 | WAS | n.59G>C c.26G>C (p.Arg9Thr) n.61G>C n.52G>C | |
| X | g.48683879G>T | CA412865211 | WAS | n.59G>T c.26G>T (p.Arg9Met) n.61G>T n.52G>T | |
| X | g.48683880G>A | CA516021750 | WAS | n.60G>A c.27G>A (p.Arg9=) n.62G>A n.53G>A | |
| X | g.48683880G>C | CA412865213 | WAS | n.60G>C c.27G>C (p.Arg9Ser) n.62G>C n.53G>C | |
| X | g.48683880G>T | CA412865215 | WAS | n.60G>T c.27G>T (p.Arg9Ser) n.62G>T n.53G>T | |
| X | g.48683880_48683881insT | CA2695233942 | WAS | n.60_61insT c.27_28insT (p.Pro10SerfsTer28) n.62_63insT n.53_54insT | |
| X | g.48683881C>A | CA412865219 | WAS | n.61C>A c.28C>A (p.Pro10Thr) n.63C>A n.54C>A | |
| X | g.48683881C>G | CA412865224 | WAS | n.61C>G c.28C>G (p.Pro10Ala) n.63C>G n.54C>G | COSMIC |
| X | g.48683881C>T | CA412865227 | WAS | n.61C>T c.28C>T (p.Pro10Ser) n.63C>T n.54C>T | ClinVar gnomAD v4 |
| X | g.48683883dup | CA2695233941 | WAS | n.63dup c.30dup (p.Gly11ArgfsTer27) n.65dup n.56dup | |
| X | g.48683882C>A | CA412865229 | WAS | n.62C>A c.29C>A (p.Pro10His) n.64C>A n.55C>A | |
| X | g.48683882C>G | CA412865232 | WAS | n.62C>G c.29C>G (p.Pro10Arg) n.64C>G n.55C>G | |
| X | g.48683882C>T | CA412865236 | WAS | n.62C>T c.29C>T (p.Pro10Leu) n.64C>T n.55C>T | |
| X | g.48683883C>A | CA10403830 | WAS | n.63C>A c.30C>A (p.Pro10=) n.65C>A n.56C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683883C= | CA2428354168 | WAS | n.63C= c.30C= (p.Pro10=) n.65C= n.56C= | |
| X | g.48683883C>G | CA516021760 | WAS | n.63C>G c.30C>G (p.Pro10=) n.65C>G n.56C>G | ClinVar |
| X | g.48683883C>T | CA10403831 | WAS | n.63C>T c.30C>T (p.Pro10=) n.65C>T n.56C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683884G>A | CA412865244 | WAS | n.64G>A c.31G>A (p.Gly11Arg) n.66G>A n.57G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.48683884G>C | CA412865246 | WAS | n.64G>C c.31G>C (p.Gly11Arg) n.66G>C n.57G>C | COSMIC |
| X | g.48683884G= | CA2428354169 | WAS | n.64G= c.31G= (p.Gly11=) n.66G= n.57G= | |
| X | g.48683884G>T | CA412865241 | WAS | n.64G>T c.31G>T (p.Gly11Trp) n.66G>T n.57G>T | gnomAD v4 |
| X | g.48683888dup | CA916081265 | WAS | n.68dup c.35dup (p.Arg13ProfsTer25) n.70dup n.61dup | ClinVar dbSNP |
| X | g.48683888del | CA516021767 | WAS | n.68del c.35del (p.Gly12AlafsTer?) n.70del n.61del | COSMIC |
| X | g.48683885G>A | CA412865252 | WAS | n.65G>A c.32G>A (p.Gly11Glu) n.67G>A n.58G>A | |
| X | g.48683885G>C | CA412865255 | WAS | n.65G>C c.32G>C (p.Gly11Ala) n.67G>C n.58G>C | gnomAD v4 |
| X | g.48683885G>T | CA412865258 | WAS | n.65G>T c.32G>T (p.Gly11Val) n.67G>T n.58G>T | |
| X | g.48683886G>A | CA516021773 | WAS | n.66G>A c.33G>A (p.Gly11=) n.68G>A n.59G>A | dbSNP |
| X | g.48683886G>C | CA516021775 | WAS | n.66G>C c.33G>C (p.Gly11=) n.68G>C n.59G>C | |
| X | g.48683886G= | CA2428354170 | WAS | n.66G= c.33G= (p.Gly11=) n.68G= n.59G= | |
| X | g.48683886G>T | CA516021776 | WAS | n.66G>T c.33G>T (p.Gly11=) n.68G>T n.59G>T | |
| X | g.48683887G>A | CA412865262 | WAS | n.67G>A c.34G>A (p.Gly12Ser) n.69G>A n.60G>A | COSMIC |
| X | g.48683887G>C | CA412865265 | WAS | n.67G>C c.34G>C (p.Gly12Arg) n.69G>C n.60G>C | |
| X | g.48683887G>T | CA412865267 | WAS | n.67G>T c.34G>T (p.Gly12Cys) n.69G>T n.60G>T | |
| X | g.48683888G>A | CA412865269 | WAS | n.68G>A c.35G>A (p.Gly12Asp) n.70G>A n.61G>A | gnomAD v4 |
| X | g.48683888G>C | CA10403832 | WAS | n.68G>C c.35G>C (p.Gly12Ala) n.70G>C n.61G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683888G= | CA2428354171 | WAS | n.68G= c.35G= (p.Gly12=) n.70G= n.61G= | |
| X | g.48683888G>T | CA412865272 | WAS | n.68G>T c.35G>T (p.Gly12Val) n.70G>T n.61G>T | |
| X | g.48683889C>A | CA516021785 | WAS | n.69C>A c.36C>A (p.Gly12=) n.71C>A n.62C>A | |
| X | g.48683889C>G | CA516021787 | WAS | n.69C>G c.36C>G (p.Gly12=) n.71C>G n.62C>G | |
| X | g.48683889C>T | CA516021789 | WAS | n.69C>T c.36C>T (p.Gly12=) n.71C>T n.62C>T | |
| X | g.48683890C>A | CA516021791 | WAS | n.70C>A c.37C>A (p.Arg13=) n.72C>A n.63C>A | |
| X | g.48683890C= | CA2428354172 | WAS | n.70C= c.37C= (p.Arg13=) n.72C= n.63C= | |
| X | g.48683890C>G | CA412865279 | WAS | n.70C>G c.37C>G (p.Arg13Gly) n.72C>G n.63C>G | gnomAD v4 |
| X | g.48683890C>T | CA342897 | WAS | n.70C>T c.37C>T (p.Arg13Ter) n.72C>T n.63C>T | ClinVar dbSNP COSMIC |
| X | g.48683891G>A | CA412865286 | WAS | n.71G>A c.38G>A (p.Arg13Gln) n.73G>A n.64G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.48683891G>C | CA412865289 | WAS | n.71G>C c.38G>C (p.Arg13Pro) n.73G>C n.64G>C | |
| X | g.48683891G= | CA2428354173 | WAS | n.71G= c.38G= (p.Arg13=) n.73G= n.64G= | |
| X | g.48683891G>T | CA412865293 | WAS | n.71G>T c.38G>T (p.Arg13Leu) n.73G>T n.64G>T | |
| X | g.48683892A= | CA2428354174 | WAS | n.72A= c.39A= (p.Arg13=) n.74A= n.65A= | |
| X | g.48683892A>C | CA516021798 | WAS | n.72A>C c.39A>C (p.Arg13=) n.74A>C n.65A>C | dbSNP gnomAD v4 |
| X | g.48683892A>G | CA516021800 | WAS | n.72A>G c.39A>G (p.Arg13=) n.74A>G n.65A>G | |
| X | g.48683892A>T | CA516021802 | WAS | n.72A>T c.39A>T (p.Arg13=) n.74A>T n.65A>T | |
| X | g.48683892_48683893delinsAG | CA2428354175 | WAS | n.72_73delinsAG c.39_40delinsAG (p.Arg13=) n.74_75delinsAG n.65_66delinsAG | |
| X | g.48683892_48683893delinsCC | CA162669 | WAS | n.72_73delinsCC c.39_40delinsCC (p.Gly14Arg) n.74_75delinsCC n.65_66delinsCC | ClinVar dbSNP |
| X | g.48683893G>A | CA412865301 | WAS | n.73G>A c.40G>A (p.Gly14Arg) n.75G>A n.66G>A | |
| X | g.48683893G>C | CA412865299 | WAS | n.73G>C c.40G>C (p.Gly14Arg) n.75G>C n.66G>C | dbSNP gnomAD v4 |
| X | g.48683893G= | CA2428354176 | WAS | n.73G= c.40G= (p.Gly14=) n.75G= n.66G= | |
| X | g.48683893G>T | CA412865305 | WAS | n.73G>T c.40G>T (p.Gly14Ter) n.75G>T n.66G>T | |
| X | g.48683894G>A | CA10403833 | WAS | n.74G>A c.41G>A (p.Gly14Glu) n.76G>A n.67G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48683894G>C | CA412865311 | WAS | n.74G>C c.41G>C (p.Gly14Ala) n.76G>C n.67G>C | |
| X | g.48683894G= | CA2428354177 | WAS | n.74G= c.41G= (p.Gly14=) n.76G= n.67G= | |
| X | g.48683894G>T | CA412865313 | WAS | n.74G>T c.41G>T (p.Gly14Val) n.76G>T n.67G>T | |
| X | g.48683895A>C | CA516021811 | WAS | n.75A>C c.42A>C (p.Gly14=) n.77A>C n.68A>C | |
| X | g.48683895A>G | CA516021813 | WAS | n.75A>G c.42A>G (p.Gly14=) n.77A>G n.68A>G | |
| X | g.48683895A>T | CA516021815 | WAS | n.75A>T c.42A>T (p.Gly14=) n.77A>T n.68A>T | |
| X | g.48683896G>A | CA412865318 | WAS | n.76G>A c.43G>A (p.Ala15Thr) n.78G>A n.69G>A | |
| X | g.48683896G>C | CA412865325 | WAS | n.76G>C c.43G>C (p.Ala15Pro) n.78G>C n.69G>C | |
| X | g.48683896G>T | CA412865327 | WAS | n.76G>T c.43G>T (p.Ala15Ser) n.78G>T n.69G>T | |
| X | g.48683897C>A | CA412865331 | WAS | n.77C>A c.44C>A (p.Ala15Glu) n.79C>A n.70C>A | |
| X | g.48683897C>G | CA412865334 | WAS | n.77C>G c.44C>G (p.Ala15Gly) n.79C>G n.70C>G | |
| X | g.48683897C>T | CA412865337 | WAS | n.77C>T c.44C>T (p.Ala15Val) n.79C>T n.70C>T | |
| X | g.48683898A>C | CA516021821 | WAS | n.78A>C c.45A>C (p.Ala15=) n.80A>C n.71A>C | |
| X | g.48683898A>G | CA516021823 | WAS | n.78A>G c.45A>G (p.Ala15=) n.80A>G n.71A>G | |
| X | g.48683898A>T | CA516021824 | WAS | n.78A>T c.45A>T (p.Ala15=) n.80A>T n.71A>T | |
| X | g.48683898_48683901del | CA2695233944 | WAS | n.78_81del c.45_48del (p.Pro16ArgfsTer28) n.80_83del n.71_74del | |
| X | g.48683899C>A | CA412865340 | WAS | n.79C>A c.46C>A (p.Pro16Thr) n.81C>A n.72C>A | |
| X | g.48683899C>G | CA412865344 | WAS | n.79C>G c.46C>G (p.Pro16Ala) n.81C>G n.72C>G | ClinVar |
| X | g.48683899C>T | CA412865346 | WAS | n.79C>T c.46C>T (p.Pro16Ser) n.81C>T n.72C>T | gnomAD v4 |
| X | g.48683900C>A | CA412865362 | WAS | n.80C>A c.47C>A (p.Pro16Gln) n.82C>A n.73C>A | |
| X | g.48683900C>G | CA412865359 | WAS | n.80C>G c.47C>G (p.Pro16Arg) n.82C>G n.73C>G | |
| X | g.48683900C>T | CA412865356 | WAS | n.80C>T c.47C>T (p.Pro16Leu) n.82C>T n.73C>T | gnomAD v4 |
| X | g.48683901A>C | CA516021834 | WAS | n.81A>C c.48A>C (p.Pro16=) n.83A>C n.74A>C | |
| X | g.48683901A>G | CA516021835 | WAS | n.81A>G c.48A>G (p.Pro16=) n.83A>G n.74A>G | |
| X | g.48683901A>T | CA516021839 | WAS | n.81A>T c.48A>T (p.Pro16=) n.83A>T n.74A>T | |
| X | g.48683902G>A | CA412865366 | WAS | n.82G>A c.49G>A (p.Ala17Thr) n.84G>A n.75G>A | |
| X | g.48683902G>C | CA412865370 | WAS | n.82G>C c.49G>C (p.Ala17Pro) n.84G>C n.75G>C | |
| X | g.48683902G= | CA2428354178 | WAS | n.82G= c.49G= (p.Ala17=) n.84G= n.75G= | |
| X | g.48683902G>T | CA412865373 | WAS | n.82G>T c.49G>T (p.Ala17Ser) n.84G>T n.75G>T | ClinVar dbSNP gnomAD v4 |
| X | g.48683903C>A | CA412865377 | WAS | n.83C>A c.50C>A (p.Ala17Glu) n.85C>A n.76C>A | |
| X | g.48683903C= | CA2428354179 | WAS | n.83C= c.50C= (p.Ala17=) n.85C= n.76C= | |
| X | g.48683903C>G | CA412865381 | WAS | n.83C>G c.50C>G (p.Ala17Gly) n.85C>G n.76C>G | |
| X | g.48683903C>T | CA10403834 | WAS | n.83C>T c.50C>T (p.Ala17Val) n.85C>T n.76C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683904G>A | CA516021855 | WAS | n.84G>A c.51G>A (p.Ala17=) n.86G>A n.77G>A | ClinVar dbSNP gnomAD v4 |
| X | g.48683904G>C | CA516021858 | WAS | n.84G>C c.51G>C (p.Ala17=) n.86G>C n.77G>C | ClinVar |
| X | g.48683904G= | CA2428354180 | WAS | n.84G= c.51G= (p.Ala17=) n.86G= n.77G= | |
| X | g.48683904G>T | CA516021861 | WAS | n.84G>T c.51G>T (p.Ala17=) n.86G>T n.77G>T | |
| X | g.48683905G>A | CA412865387 | WAS | n.85G>A c.52G>A (p.Val18Ile) n.87G>A n.78G>A | ClinVar dbSNP |
| X | g.48683905G>C | CA412865390 | WAS | n.85G>C c.52G>C (p.Val18Leu) n.87G>C n.78G>C | |
| X | g.48683905G= | CA2428354181 | WAS | n.85G= c.52G= (p.Val18=) n.87G= n.78G= | |
| X | g.48683905G>T | CA412865392 | WAS | n.85G>T c.52G>T (p.Val18Phe) n.87G>T n.78G>T | |
| X | g.48683906T>A | CA412865393 | WAS | n.86T>A c.53T>A (p.Val18Asp) n.88T>A n.79T>A | |
| X | g.48683906T>C | CA412865394 | WAS | n.86T>C c.53T>C (p.Val18Ala) n.88T>C n.79T>C | |
| X | g.48683906T>G | CA412865396 | WAS | n.86T>G c.53T>G (p.Val18Gly) n.88T>G n.79T>G | |
| X | g.48683907T>A | CA516021880 | WAS | n.87T>A c.54T>A (p.Val18=) n.89T>A n.80T>A | |
| X | g.48683907T>C | CA516021883 | WAS | n.87T>C c.54T>C (p.Val18=) n.89T>C n.80T>C | |
| X | g.48683907T>G | CA516021877 | WAS | n.87T>G c.54T>G (p.Val18=) n.89T>G n.80T>G | ClinVar gnomAD v3 gnomAD v4 |
| X | g.48683908C>A | CA412865405 | WAS | n.88C>A c.55C>A (p.Gln19Lys) n.90C>A n.81C>A | |
| X | g.48683908C>G | CA412865398 | WAS | n.88C>G c.55C>G (p.Gln19Glu) n.90C>G n.81C>G | |
| X | g.48683908C>T | CA412865401 | WAS | n.88C>T c.55C>T (p.Gln19Ter) n.90C>T n.81C>T | COSMIC |
| X | g.48683909A= | CA2428354182 | WAS | n.89A= c.56A= (p.Gln19=) n.91A= n.82A= | |
| X | g.48683909A>C | CA10403835 | WAS | n.89A>C c.56A>C (p.Gln19Pro) n.91A>C n.82A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683909A>G | CA412865410 | WAS | n.89A>G c.56A>G (p.Gln19Arg) n.91A>G n.82A>G | |
| X | g.48683909A>T | CA412865412 | WAS | n.89A>T c.56A>T (p.Gln19Leu) n.91A>T n.82A>T | |
| X | g.48683910G>A | CA516021899 | WAS | n.90G>A c.57G>A (p.Gln19=) n.92G>A n.83G>A | gnomAD v4 |
| X | g.48683910G>C | CA412865415 | WAS | n.90G>C c.57G>C (p.Gln19His) n.92G>C n.83G>C | gnomAD v4 |
| X | g.48683910G>T | CA412865419 | WAS | n.90G>T c.57G>T (p.Gln19His) n.92G>T n.83G>T | |
| X | g.48683911C>A | CA412865423 | WAS | n.91C>A c.58C>A (p.Gln20Lys) n.93C>A n.84C>A | |
| X | g.48683911C= | CA2428354183 | WAS | n.91C= c.58C= (p.Gln20=) n.93C= n.84C= | |
| X | g.48683911C>G | CA162672 | WAS | n.91C>G c.58C>G (p.Gln20Glu) n.93C>G n.84C>G | ClinVar dbSNP |
| X | g.48683911C>T | CA412865428 | WAS | n.91C>T c.58C>T (p.Gln20Ter) n.93C>T n.84C>T | ClinVar |
| X | g.48683912A>C | CA412865433 | WAS | n.92A>C c.59A>C (p.Gln20Pro) n.94A>C n.85A>C | |
| X | g.48683912A>G | CA412865437 | WAS | n.92A>G c.59A>G (p.Gln20Arg) n.94A>G n.85A>G | |
| X | g.48683912A>T | CA412865434 | WAS | n.92A>T c.59A>T (p.Gln20Leu) n.94A>T n.85A>T | |
| X | g.48683913G>A | CA516021922 | WAS | n.93G>A c.60G>A (p.Gln20=) n.95G>A n.86G>A | |
| X | g.48683913G>C | CA412865442 | WAS | n.93G>C c.60G>C (p.Gln20His) n.95G>C n.86G>C | |
| X | g.48683913G>T | CA412865445 | WAS | n.93G>T c.60G>T (p.Gln20His) n.95G>T n.86G>T | |
| X | g.48683914A>C | CA412865447 | WAS | n.94A>C c.61A>C (p.Asn21His) n.96A>C n.87A>C | |
| X | g.48683914A>G | CA412865450 | WAS | n.94A>G c.61A>G (p.Asn21Asp) n.96A>G n.87A>G | |
| X | g.48683914A>T | CA412865453 | WAS | n.94A>T c.61A>T (p.Asn21Tyr) n.96A>T n.87A>T | |
| X | g.48683915del | CA2695233946 | WAS | n.95del c.62del (p.Asn21ThrfsTer24) n.97del n.88del | |
| X | g.48683915A>C | CA412865459 | WAS | n.95A>C c.62A>C (p.Asn21Thr) n.97A>C n.88A>C | |
| X | g.48683915A>G | CA412865466 | WAS | n.95A>G c.62A>G (p.Asn21Ser) n.97A>G n.88A>G | |
| X | g.48683915A>T | CA412865463 | WAS | n.95A>T c.62A>T (p.Asn21Ile) n.97A>T n.88A>T | ClinVar |
| X | g.48683916C>A | CA412865470 | WAS | n.96C>A c.63C>A (p.Asn21Lys) n.98C>A n.89C>A | |
| X | g.48683916C>G | CA412865472 | WAS | n.96C>G c.63C>G (p.Asn21Lys) n.98C>G n.89C>G | |
| X | g.48683916C>T | CA516021943 | WAS | n.96C>T c.63C>T (p.Asn21=) n.98C>T n.89C>T | |
| X | g.48683917A= | CA2428354184 | WAS | n.97A= c.64A= (p.Ile22=) n.99A= n.90A= | |
| X | g.48683917A>C | CA412865478 | WAS | n.97A>C c.64A>C (p.Ile22Leu) n.99A>C n.90A>C | |
| X | g.48683917A>G | CA412865481 | WAS | n.97A>G c.64A>G (p.Ile22Val) n.99A>G n.90A>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48683917A>T | CA412865484 | WAS | n.97A>T c.64A>T (p.Ile22Leu) n.99A>T n.90A>T | |
| X | g.48683918T>A | CA412865488 | WAS | n.98T>A c.65T>A (p.Ile22Lys) n.100T>A n.91T>A | |
| X | g.48683918T>C | CA412865491 | WAS | n.98T>C c.65T>C (p.Ile22Thr) n.100T>C n.91T>C | gnomAD v4 |
| X | g.48683918T>G | CA412865493 | WAS | n.98T>G c.65T>G (p.Ile22Arg) n.100T>G n.91T>G | |
| X | g.48683919A>C | CA516021960 | WAS | n.99A>C c.66A>C (p.Ile22=) n.101A>C n.92A>C | |
| X | g.48683919A>G | CA412865496 | WAS | n.99A>G c.66A>G (p.Ile22Met) n.101A>G n.92A>G | |
| X | g.48683919A>T | CA516021966 | WAS | n.99A>T c.66A>T (p.Ile22=) n.101A>T n.92A>T | |
| X | g.48683920C>A | CA412865501 | WAS | n.100C>A c.67C>A (p.Pro23Thr) n.102C>A n.93C>A | |
| X | g.48683920C>G | CA412865504 | WAS | n.100C>G c.67C>G (p.Pro23Ala) n.102C>G n.93C>G | |
| X | g.48683920C>T | CA412865508 | WAS | n.100C>T c.67C>T (p.Pro23Ser) n.102C>T n.93C>T | |
| X | g.48683921C>A | CA412865513 | WAS | n.101C>A c.68C>A (p.Pro23His) n.103C>A n.94C>A | |
| X | g.48683921C= | CA2428354185 | WAS | n.101C= c.68C= (p.Pro23=) n.103C= n.94C= | |
| X | g.48683921C>G | CA412865520 | WAS | n.101C>G c.68C>G (p.Pro23Arg) n.103C>G n.94C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48683921C>T | CA412865515 | WAS | n.101C>T c.68C>T (p.Pro23Leu) n.103C>T n.94C>T | |
| X | g.48683922C>A | CA516021979 | WAS | n.102C>A c.69C>A (p.Pro23=) n.104C>A n.95C>A | |
| X | g.48683922C= | CA2428354186 | WAS | n.102C= c.69C= (p.Pro23=) n.104C= n.95C= | |
| X | g.48683922C>G | CA516021982 | WAS | n.102C>G c.69C>G (p.Pro23=) n.104C>G n.95C>G | |
| X | g.48683922C>T | CA516021984 | WAS | n.102C>T c.69C>T (p.Pro23=) n.104C>T n.95C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683923T>A | CA412865525 | WAS | n.103T>A c.70T>A (p.Ser24Thr) n.105T>A n.96T>A | |
| X | g.48683923T>C | CA412865528 | WAS | n.103T>C c.70T>C (p.Ser24Pro) n.105T>C n.96T>C | ClinVar dbSNP |
| X | g.48683923T>G | CA412865531 | WAS | n.103T>G c.70T>G (p.Ser24Ala) n.105T>G n.96T>G | |
| X | g.48683923T= | CA2428354187 | WAS | n.103T= c.70T= (p.Ser24=) n.105T= n.96T= | |
| X | g.48683924C>A | CA412865532 | WAS | n.104C>A c.71C>A (p.Ser24Tyr) n.106C>A n.97C>A | |
| X | g.48683924C>G | CA412865535 | WAS | n.104C>G c.71C>G (p.Ser24Cys) n.106C>G n.97C>G | |
| X | g.48683924C>T | CA412865539 | WAS | n.104C>T c.71C>T (p.Ser24Phe) n.106C>T n.97C>T | |
| X | g.48683924_48683926delinsCCA | CA2428354188 | WAS | n.104_106delinsCCA c.71_73delinsCCA (p.Ser24=) n.106_108delinsCCA n.97_99delinsCCA | |
| X | g.48683925C>A | CA516022001 | WAS | n.105C>A c.72C>A (p.Ser24=) n.107C>A n.98C>A | |
| X | g.48683925C>G | CA516022004 | WAS | n.105C>G c.72C>G (p.Ser24=) n.107C>G n.98C>G | |
| X | g.48683925C>T | CA516022007 | WAS | n.105C>T c.72C>T (p.Ser24=) n.107C>T n.98C>T | |
| X | g.48683926_48683927del | CA913185073 | WAS | n.106_107del c.73_74del (p.Thr25ProfsTer12) n.108_109del n.99_100del | ClinVar dbSNP |
| X | g.48683926A>C | CA412865543 | WAS | n.106A>C c.73A>C (p.Thr25Pro) n.108A>C n.99A>C | |
| X | g.48683926A>G | CA412865544 | WAS | n.106A>G c.73A>G (p.Thr25Ala) n.108A>G n.99A>G | |
| X | g.48683926A>T | CA412865548 | WAS | n.106A>T c.73A>T (p.Thr25Ser) n.108A>T n.99A>T | |
| X | g.48683927C>A | CA412865553 | WAS | n.107C>A c.74C>A (p.Thr25Asn) n.109C>A n.100C>A | |
| X | g.48683927C= | CA2428354189 | WAS | n.107C= c.74C= (p.Thr25=) n.109C= n.100C= | |
| X | g.48683927C>G | CA412865555 | WAS | n.107C>G c.74C>G (p.Thr25Ser) n.109C>G n.100C>G | |
| X | g.48683927C>T | CA10403836 | WAS | n.107C>T c.74C>T (p.Thr25Ile) n.109C>T n.100C>T | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.48683928C>A | CA516022023 | WAS | n.108C>A c.75C>A (p.Thr25=) n.110C>A n.101C>A | |
| X | g.48683928C>G | CA516022022 | WAS | n.108C>G c.75C>G (p.Thr25=) n.110C>G n.101C>G | |
| X | g.48683928C>T | CA516022019 | WAS | n.108C>T c.75C>T (p.Thr25=) n.110C>T n.101C>T | ClinVar |
| X | g.48683929C>A | CA412865575 | WAS | n.109C>A c.76C>A (p.Leu26Ile) n.111C>A n.102C>A | ClinVar |
| X | g.48683929C>G | CA412865573 | WAS | n.109C>G c.76C>G (p.Leu26Val) n.111C>G n.102C>G | |
| X | g.48683929C>T | CA412865561 | WAS | n.109C>T c.76C>T (p.Leu26Phe) n.111C>T n.102C>T | |
| X | g.48683930T>A | CA412865578 | WAS | n.110T>A c.77T>A (p.Leu26His) n.112T>A n.103T>A | |
| X | g.48683930T>C | CA412865581 | WAS | n.110T>C c.77T>C (p.Leu26Pro) n.112T>C n.103T>C | |
| X | g.48683930T>G | CA412865584 | WAS | n.110T>G c.77T>G (p.Leu26Arg) n.112T>G n.103T>G | |
| X | g.48683931C>A | CA516022046 | WAS | n.111C>A c.78C>A (p.Leu26=) n.113C>A n.104C>A | |
| X | g.48683931C>G | CA516022043 | WAS | n.111C>G c.78C>G (p.Leu26=) n.113C>G n.104C>G | |
| X | g.48683931C>T | CA516022040 | WAS | n.111C>T c.78C>T (p.Leu26=) n.113C>T n.104C>T | gnomAD v4 |
| X | g.48683932C>A | CA412865587 | WAS | n.112C>A c.79C>A (p.Leu27Ile) n.114C>A n.105C>A | |
| X | g.48683932C>G | CA412865589 | WAS | n.112C>G c.79C>G (p.Leu27Val) n.114C>G n.105C>G | |
| X | g.48683932C>T | CA412865592 | WAS | n.112C>T c.79C>T (p.Leu27Phe) n.114C>T n.105C>T | |
| X | g.48683933T>A | CA412865595 | WAS | n.113T>A c.80T>A (p.Leu27His) n.115T>A n.106T>A | |
| X | g.48683933T>C | CA412865599 | WAS | n.113T>C c.80T>C (p.Leu27Pro) n.115T>C n.106T>C | |
| X | g.48683933T>G | CA412865602 | WAS | n.113T>G c.80T>G (p.Leu27Arg) n.115T>G n.106T>G | |
| X | g.48683934C>A | CA516022059 | WAS | n.114C>A c.81C>A (p.Leu27=) n.116C>A n.107C>A | |
| X | g.48683934C>G | CA516022063 | WAS | n.114C>G c.81C>G (p.Leu27=) n.116C>G n.107C>G | |
| X | g.48683934C>T | CA516022060 | WAS | n.114C>T c.81C>T (p.Leu27=) n.116C>T n.107C>T | |
| X | g.48683935del | CA2695233947 | WAS | n.115del c.82del (p.Gln28ArgfsTer17) n.117del n.108del | |
| X | g.48683935C>A | CA412865607 | WAS | n.115C>A c.82C>A (p.Gln28Lys) n.117C>A n.108C>A | |
| X | g.48683935C>G | CA412865610 | WAS | n.115C>G c.82C>G (p.Gln28Glu) n.117C>G n.108C>G | |
| X | g.48683935C>T | CA412865612 | WAS | n.115C>T c.82C>T (p.Gln28Ter) n.117C>T n.108C>T | ClinVar |
| X | g.48683936A>C | CA412865617 | WAS | n.116A>C c.83A>C (p.Gln28Pro) n.118A>C n.109A>C | |
| X | g.48683936A>G | CA412865623 | WAS | n.116A>G c.83A>G (p.Gln28Arg) n.118A>G n.109A>G | |
| X | g.48683936A>T | CA412865620 | WAS | n.116A>T c.83A>T (p.Gln28Leu) n.118A>T n.109A>T | |
| X | g.48683937G>A | CA516022078 | WAS | n.117G>A c.84G>A (p.Gln28=) n.119G>A n.110G>A | |
| X | g.48683937G>C | CA412865626 | WAS | n.117G>C c.84G>C (p.Gln28His) n.119G>C n.110G>C | |
| X | g.48683937G>T | CA412865627 | WAS | n.117G>T c.84G>T (p.Gln28His) n.119G>T n.110G>T | |
| X | g.48683938G>A | CA412865631 | WAS | n.118G>A c.85G>A (p.Asp29Asn) n.120G>A n.111G>A | COSMIC |
| X | g.48683938G>C | CA412865634 | WAS | n.118G>C c.85G>C (p.Asp29His) n.120G>C n.111G>C | |
| X | g.48683938G>T | CA412865633 | WAS | n.118G>T c.85G>T (p.Asp29Tyr) n.120G>T n.111G>T | |
| X | g.48683939A>C | CA412865637 | WAS | n.119A>C c.86A>C (p.Asp29Ala) n.121A>C n.112A>C | |
| X | g.48683939A>G | CA412865639 | WAS | n.119A>G c.86A>G (p.Asp29Gly) n.121A>G n.112A>G | |
| X | g.48683939A>T | CA412865640 | WAS | n.119A>T c.86A>T (p.Asp29Val) n.121A>T n.112A>T | |
| X | g.48683941_48683943del | CA2695233948 | WAS | n.121_123del c.88_90del (p.His30del) n.123_125del n.114_116del | ClinVar |
| X | g.48683940C>A | CA412865644 | WAS | n.120C>A c.87C>A (p.Asp29Glu) n.122C>A n.113C>A | |
| X | g.48683940C>G | CA412865645 | WAS | n.120C>G c.87C>G (p.Asp29Glu) n.122C>G n.113C>G | |
| X | g.48683940C>T | CA516022101 | WAS | n.120C>T c.87C>T (p.Asp29=) n.122C>T n.113C>T | gnomAD v4 |
| X | g.48683941C>A | CA412865648 | WAS | n.121C>A c.88C>A (p.His30Asn) n.123C>A n.114C>A | |
| X | g.48683941C>G | CA412865651 | WAS | n.121C>G c.88C>G (p.His30Asp) n.123C>G n.114C>G | |
| X | g.48683941C>T | CA412865654 | WAS | n.121C>T c.88C>T (p.His30Tyr) n.123C>T n.114C>T | |
| X | g.48683942A= | CA2428354190 | WAS | n.122A= c.89A= (p.His30=) n.124A= n.115A= | |
| X | g.48683942A>C | CA412865657 | WAS | n.122A>C c.89A>C (p.His30Pro) n.124A>C n.115A>C | |
| X | g.48683942A>G | CA10403837 | WAS | n.122A>G c.89A>G (p.His30Arg) n.124A>G n.115A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48683942A>T | CA412865661 | WAS | n.122A>T c.89A>T (p.His30Leu) n.124A>T n.115A>T | |
| X | g.48683943C>A | CA412865668 | WAS | n.123C>A c.90C>A (p.His30Gln) n.125C>A n.116C>A | |
| X | g.48683943C= | CA2428354191 | WAS | n.123C= c.90C= (p.His30=) n.125C= n.116C= | |
| X | g.48683943C>G | CA412865666 | WAS | n.123C>G c.90C>G (p.His30Gln) n.125C>G n.116C>G | |
| X | g.48683943C>T | CA10403838 | WAS | n.123C>T c.90C>T (p.His30=) n.125C>T n.116C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48683944G>A | CA412865672 | WAS | n.124G>A c.91G>A (p.Glu31Lys) n.126G>A n.117G>A | ClinVar dbSNP |
| X | g.48683944G>C | CA412865674 | WAS | n.124G>C c.91G>C (p.Glu31Gln) n.126G>C n.117G>C | |
| X | g.48683944G= | CA2428354192 | WAS | n.124G= c.91G= (p.Glu31=) n.126G= n.117G= | |
| X | g.48683944G>T | CA412865676 | WAS | n.124G>T c.91G>T (p.Glu31Ter) n.126G>T n.117G>T | |
| X | g.48683945A>C | CA412865679 | WAS | n.125A>C c.92A>C (p.Glu31Ala) n.127A>C n.118A>C | |
| X | g.48683945A>G | CA412865681 | WAS | n.125A>G c.92A>G (p.Glu31Gly) n.127A>G n.118A>G | |
| X | g.48683945A>T | CA412865684 | WAS | n.125A>T c.92A>T (p.Glu31Val) n.127A>T n.118A>T | |
| X | g.48683946G>A | CA516022130 | WAS | n.126G>A c.93G>A (p.Glu31=) n.128G>A n.119G>A | gnomAD v4 |
| X | g.48683946G>C | CA412865686 | WAS | n.126G>C c.93G>C (p.Glu31Asp) n.128G>C n.119G>C | |
| X | g.48683946G>T | CA412865688 | WAS | n.126G>T c.93G>T (p.Glu31Asp) n.128G>T n.119G>T | |
| X | g.48683947A>C | CA412865691 | WAS | n.127A>C c.94A>C (p.Asn32His) n.129A>C n.120A>C | |
| X | g.48683947A>G | CA412865693 | WAS | n.127A>G c.94A>G (p.Asn32Asp) n.129A>G n.120A>G | |
| X | g.48683947A>T | CA412865695 | WAS | n.127A>T c.94A>T (p.Asn32Tyr) n.129A>T n.120A>T | |
| X | g.48683948A>C | CA412865705 | WAS | n.128A>C c.95A>C (p.Asn32Thr) n.130A>C n.121A>C | |
| X | g.48683948A>G | CA412865703 | WAS | n.128A>G c.95A>G (p.Asn32Ser) n.130A>G n.121A>G | |
| X | g.48683948A>T | CA412865701 | WAS | n.128A>T c.95A>T (p.Asn32Ile) n.130A>T n.121A>T | |
| X | g.48683949C>A | CA412865708 | WAS | n.129C>A c.96C>A (p.Asn32Lys) n.131C>A n.122C>A | |
| X | g.48683949C= | CA2428354193 | WAS | n.129C= c.96C= (p.Asn32=) n.131C= n.122C= | |
| X | g.48683949C>G | CA412865711 | WAS | n.129C>G c.96C>G (p.Asn32Lys) n.131C>G n.122C>G | dbSNP |
| X | g.48683949C>T | CA516022150 | WAS | n.129C>T c.96C>T (p.Asn32=) n.131C>T n.122C>T | |
| X | g.48683950C>A | CA412865713 | WAS | n.130C>A c.97C>A (p.Gln33Lys) n.132C>A n.123C>A | |
| X | g.48683950C= | CA2428354194 | WAS | n.130C= c.97C= (p.Gln33=) n.132C= n.123C= | |
| X | g.48683950C>G | CA412865716 | WAS | n.130C>G c.97C>G (p.Gln33Glu) n.132C>G n.123C>G | ClinVar dbSNP gnomAD v4 |
| X | g.48683950C>T | CA412865719 | WAS | n.130C>T c.97C>T (p.Gln33Ter) n.132C>T n.123C>T | |
| X | g.48683951A>C | CA412865722 | WAS | n.131A>C c.98A>C (p.Gln33Pro) n.133A>C n.124A>C | |
| X | g.48683951A>G | CA412865725 | WAS | n.131A>G c.98A>G (p.Gln33Arg) n.133A>G n.124A>G | COSMIC |
| X | g.48683951A>T | CA412865727 | WAS | n.131A>T c.98A>T (p.Gln33Leu) n.133A>T n.124A>T | |
| X | g.48683952G>A | CA516022168 | WAS | n.132G>A c.99G>A (p.Gln33=) n.134G>A n.125G>A | |
| X | g.48683952G>C | CA412865731 | WAS | n.132G>C c.99G>C (p.Gln33His) n.134G>C n.125G>C | |
| X | g.48683952G>T | CA412865748 | WAS | n.132G>T c.99G>T (p.Gln33His) n.134G>T n.125G>T | |
| X | g.48683953C>A | CA10403839 | WAS | n.133C>A c.100C>A (p.Arg34=) n.135C>A n.126C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48683953C= | CA2428354195 | WAS | n.133C= c.100C= (p.Arg34=) n.135C= n.126C= | |
| X | g.48683953C>G | CA412865755 | WAS | n.133C>G c.100C>G (p.Arg34Gly) n.135C>G n.126C>G | |
| X | g.48683953C>T | CA341005 | WAS | n.133C>T c.100C>T (p.Arg34Ter) n.135C>T n.126C>T | ClinVar dbSNP |
| X | g.48683954G>A | CA10403840 | WAS | n.134G>A c.101G>A (p.Arg34Gln) n.136G>A n.127G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.48683954G>C | CA412865761 | WAS | n.134G>C c.101G>C (p.Arg34Pro) n.136G>C n.127G>C | |
| X | g.48683954G= | CA2428354196 | WAS | n.134G= c.101G= (p.Arg34=) n.136G= n.127G= | |
| X | g.48683954G>T | CA412865763 | WAS | n.134G>T c.101G>T (p.Arg34Leu) n.136G>T n.127G>T |