Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117642410_117643191delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAACCA1737404713CFTRc.3518-28_*82+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC
c.*3432-28_*3587+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC
c.3535-28_3690+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC
c.3718-28_*86+208delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC
c.*371-28_*526+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC
c.3718-28_3873+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC
c.*379-28_*534+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC
c.*2093-28_*2248+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC
c.3712-28_3867+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC
c.*3542-28_*3697+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC
c.3292-28_3447+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC
c.466-28_737+208delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC
c.1505-28_1660+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC
c.300-28_455+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC
c.1168-28_1323+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC
c.3628-28_3783+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC
c.3808-28_3963+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC
c.3475-28_3630+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC
7g.117642414_117643194delCA327259CFTRc.3518-24_*82+601del
c.*3432-24_*3587+601del
c.3535-24_3690+601del
c.3718-24_*86+211del
c.*371-24_*526+601del
c.3718-24_3873+601del
c.*379-24_*534+601del
c.*2093-24_*2248+601del
c.3712-24_3867+601del
c.*3542-24_*3697+601del
c.3292-24_3447+601del
c.466-24_737+211del
c.1505-24_1660+601del
c.300-24_455+601del
c.1168-24_1323+601del
c.3628-24_3783+601del
c.3808-24_3963+601del
c.3475-24_3630+601del
ClinVar dbSNP
7g.117642615G>ACA1106311322CFTRc.*82+22G>A (n.*82+22G>A)
c.*3587+22G>A (n.*3587+22G>A)
c.3690+22G>A (n.3690+22G>A)
c.3873+22G>A (n.3873+22G>A)
c.*526+22G>A (n.*526+22G>A)
c.*534+22G>A (n.*534+22G>A)
c.*2248+22G>A (n.*2248+22G>A)
c.3867+22G>A (n.3867+22G>A)
c.*3697+22G>A (n.*3697+22G>A)
c.3447+22G>A (n.3447+22G>A)
c.621+22G>A (n.621+22G>A)
c.1660+22G>A (n.1660+22G>A)
c.455+22G>A
c.1323+22G>A
c.3783+22G>A (n.3783+22G>A)
c.3963+22G>A (n.3963+22G>A)
c.3630+22G>A (n.3630+22G>A)
gnomAD v3 gnomAD v4
7g.117642615G=CA1737404834CFTRc.*82+22G= (n.*82+22G=)
c.*3587+22G= (n.*3587+22G=)
c.3690+22G= (n.3690+22G=)
c.3873+22G= (n.3873+22G=)
c.*526+22G= (n.*526+22G=)
c.*534+22G= (n.*534+22G=)
c.*2248+22G= (n.*2248+22G=)
c.3867+22G= (n.3867+22G=)
c.*3697+22G= (n.*3697+22G=)
c.3447+22G= (n.3447+22G=)
c.621+22G= (n.621+22G=)
c.1660+22G= (n.1660+22G=)
c.455+22G=
c.1323+22G=
c.3783+22G= (n.3783+22G=)
c.3963+22G= (n.3963+22G=)
c.3630+22G= (n.3630+22G=)
7g.117642621dupCA4451564CFTRc.*82+28dup (n.*82+28dup)
c.*3587+28dup (n.*3587+28dup)
c.3690+28dup (n.3690+28dup)
c.3873+28dup (n.3873+28dup)
c.*526+28dup (n.*526+28dup)
c.*534+28dup (n.*534+28dup)
c.*2248+28dup (n.*2248+28dup)
c.3867+28dup (n.3867+28dup)
c.*3697+28dup (n.*3697+28dup)
c.3447+28dup (n.3447+28dup)
c.621+28dup (n.621+28dup)
c.1660+28dup (n.1660+28dup)
c.455+28dup
c.1323+28dup
c.3783+28dup (n.3783+28dup)
c.3963+28dup (n.3963+28dup)
c.3630+28dup (n.3630+28dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642621delCA577224073CFTRc.*82+28del (n.*82+28del)
c.*3587+28del (n.*3587+28del)
c.3690+28del (n.3690+28del)
c.3873+28del (n.3873+28del)
c.*526+28del (n.*526+28del)
c.*534+28del (n.*534+28del)
c.*2248+28del (n.*2248+28del)
c.3867+28del (n.3867+28del)
c.*3697+28del (n.*3697+28del)
c.3447+28del (n.3447+28del)
c.621+28del (n.621+28del)
c.1660+28del (n.1660+28del)
c.455+28del
c.1323+28del
c.3783+28del (n.3783+28del)
c.3963+28del (n.3963+28del)
c.3630+28del (n.3630+28del)
gnomAD v2 gnomAD v4
7g.117642617A=CA1737404835CFTRc.*82+24A= (n.*82+24A=)
c.*3587+24A= (n.*3587+24A=)
c.3690+24A= (n.3690+24A=)
c.3873+24A= (n.3873+24A=)
c.*526+24A= (n.*526+24A=)
c.*534+24A= (n.*534+24A=)
c.*2248+24A= (n.*2248+24A=)
c.3867+24A= (n.3867+24A=)
c.*3697+24A= (n.*3697+24A=)
c.3447+24A= (n.3447+24A=)
c.621+24A= (n.621+24A=)
c.1660+24A= (n.1660+24A=)
c.455+24A=
c.1323+24A=
c.3783+24A= (n.3783+24A=)
c.3963+24A= (n.3963+24A=)
c.3630+24A= (n.3630+24A=)
7g.117642617A>GCA4451565CFTRc.*82+24A>G (n.*82+24A>G)
c.*3587+24A>G (n.*3587+24A>G)
c.3690+24A>G (n.3690+24A>G)
c.3873+24A>G (n.3873+24A>G)
c.*526+24A>G (n.*526+24A>G)
c.*534+24A>G (n.*534+24A>G)
c.*2248+24A>G (n.*2248+24A>G)
c.3867+24A>G (n.3867+24A>G)
c.*3697+24A>G (n.*3697+24A>G)
c.3447+24A>G (n.3447+24A>G)
c.621+24A>G (n.621+24A>G)
c.1660+24A>G (n.1660+24A>G)
c.455+24A>G
c.1323+24A>G
c.3783+24A>G (n.3783+24A>G)
c.3963+24A>G (n.3963+24A>G)
c.3630+24A>G (n.3630+24A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.117642618A=CA1737404836CFTRc.*82+25A= (n.*82+25A=)
c.*3587+25A= (n.*3587+25A=)
c.3690+25A= (n.3690+25A=)
c.3873+25A= (n.3873+25A=)
c.*526+25A= (n.*526+25A=)
c.*534+25A= (n.*534+25A=)
c.*2248+25A= (n.*2248+25A=)
c.3867+25A= (n.3867+25A=)
c.*3697+25A= (n.*3697+25A=)
c.3447+25A= (n.3447+25A=)
c.621+25A= (n.621+25A=)
c.1660+25A= (n.1660+25A=)
c.455+25A=
c.1323+25A=
c.3783+25A= (n.3783+25A=)
c.3963+25A= (n.3963+25A=)
c.3630+25A= (n.3630+25A=)
7g.117642618A>GCA4451566CFTRc.*82+25A>G (n.*82+25A>G)
c.*3587+25A>G (n.*3587+25A>G)
c.3690+25A>G (n.3690+25A>G)
c.3873+25A>G (n.3873+25A>G)
c.*526+25A>G (n.*526+25A>G)
c.*534+25A>G (n.*534+25A>G)
c.*2248+25A>G (n.*2248+25A>G)
c.3867+25A>G (n.3867+25A>G)
c.*3697+25A>G (n.*3697+25A>G)
c.3447+25A>G (n.3447+25A>G)
c.621+25A>G (n.621+25A>G)
c.1660+25A>G (n.1660+25A>G)
c.455+25A>G
c.1323+25A>G
c.3783+25A>G (n.3783+25A>G)
c.3963+25A>G (n.3963+25A>G)
c.3630+25A>G (n.3630+25A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.117642620A>GCA2777590829CFTRc.*82+27A>G (n.*82+27A>G)
c.*3587+27A>G (n.*3587+27A>G)
c.3690+27A>G (n.3690+27A>G)
c.3873+27A>G (n.3873+27A>G)
c.*526+27A>G (n.*526+27A>G)
c.*534+27A>G (n.*534+27A>G)
c.*2248+27A>G (n.*2248+27A>G)
c.3867+27A>G (n.3867+27A>G)
c.*3697+27A>G (n.*3697+27A>G)
c.3447+27A>G (n.3447+27A>G)
c.621+27A>G (n.621+27A>G)
c.1660+27A>G (n.1660+27A>G)
c.455+27A>G
c.1323+27A>G
c.3783+27A>G (n.3783+27A>G)
c.3963+27A>G (n.3963+27A>G)
c.3630+27A>G (n.3630+27A>G)
7g.117642622G>ACA915526565CFTRc.*82+29G>A (n.*82+29G>A)
c.*3587+29G>A (n.*3587+29G>A)
c.3690+29G>A (n.3690+29G>A)
c.3873+29G>A (n.3873+29G>A)
c.*526+29G>A (n.*526+29G>A)
c.*534+29G>A (n.*534+29G>A)
c.*2248+29G>A (n.*2248+29G>A)
c.3867+29G>A (n.3867+29G>A)
c.*3697+29G>A (n.*3697+29G>A)
c.3447+29G>A (n.3447+29G>A)
c.621+29G>A (n.621+29G>A)
c.1660+29G>A (n.1660+29G>A)
c.455+29G>A
c.1323+29G>A
c.3783+29G>A (n.3783+29G>A)
c.3963+29G>A (n.3963+29G>A)
c.3630+29G>A (n.3630+29G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117642622G>CCA4451567CFTRc.*82+29G>C (n.*82+29G>C)
c.*3587+29G>C (n.*3587+29G>C)
c.3690+29G>C (n.3690+29G>C)
c.3873+29G>C (n.3873+29G>C)
c.*526+29G>C (n.*526+29G>C)
c.*534+29G>C (n.*534+29G>C)
c.*2248+29G>C (n.*2248+29G>C)
c.3867+29G>C (n.3867+29G>C)
c.*3697+29G>C (n.*3697+29G>C)
c.3447+29G>C (n.3447+29G>C)
c.621+29G>C (n.621+29G>C)
c.1660+29G>C (n.1660+29G>C)
c.455+29G>C
c.1323+29G>C
c.3783+29G>C (n.3783+29G>C)
c.3963+29G>C (n.3963+29G>C)
c.3630+29G>C (n.3630+29G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642622G=CA1737404837CFTRc.*82+29G= (n.*82+29G=)
c.*3587+29G= (n.*3587+29G=)
c.3690+29G= (n.3690+29G=)
c.3873+29G= (n.3873+29G=)
c.*526+29G= (n.*526+29G=)
c.*534+29G= (n.*534+29G=)
c.*2248+29G= (n.*2248+29G=)
c.3867+29G= (n.3867+29G=)
c.*3697+29G= (n.*3697+29G=)
c.3447+29G= (n.3447+29G=)
c.621+29G= (n.621+29G=)
c.1660+29G= (n.1660+29G=)
c.455+29G=
c.1323+29G=
c.3783+29G= (n.3783+29G=)
c.3963+29G= (n.3963+29G=)
c.3630+29G= (n.3630+29G=)
7g.117642622_117642623insCTCA577224074CFTRc.*82+29_*82+30insCT (n.*82+29_*82+30insCT)
c.*3587+29_*3587+30insCT (n.*3587+29_*3587+30insCT)
c.3690+29_3690+30insCT (n.3690+29_3690+30insCT)
c.3873+29_3873+30insCT (n.3873+29_3873+30insCT)
c.*526+29_*526+30insCT (n.*526+29_*526+30insCT)
c.*534+29_*534+30insCT (n.*534+29_*534+30insCT)
c.*2248+29_*2248+30insCT (n.*2248+29_*2248+30insCT)
c.3867+29_3867+30insCT (n.3867+29_3867+30insCT)
c.*3697+29_*3697+30insCT (n.*3697+29_*3697+30insCT)
c.3447+29_3447+30insCT (n.3447+29_3447+30insCT)
c.621+29_621+30insCT (n.621+29_621+30insCT)
c.1660+29_1660+30insCT (n.1660+29_1660+30insCT)
c.455+29_455+30insCT
c.1323+29_1323+30insCT
c.3783+29_3783+30insCT (n.3783+29_3783+30insCT)
c.3963+29_3963+30insCT (n.3963+29_3963+30insCT)
c.3630+29_3630+30insCT (n.3630+29_3630+30insCT)
gnomAD v2
7g.117642622_117642623insACACA2777590833CFTRc.*82+29_*82+30insACA (n.*82+29_*82+30insACA)
c.*3587+29_*3587+30insACA (n.*3587+29_*3587+30insACA)
c.3690+29_3690+30insACA (n.3690+29_3690+30insACA)
c.3873+29_3873+30insACA (n.3873+29_3873+30insACA)
c.*526+29_*526+30insACA (n.*526+29_*526+30insACA)
c.*534+29_*534+30insACA (n.*534+29_*534+30insACA)
c.*2248+29_*2248+30insACA (n.*2248+29_*2248+30insACA)
c.3867+29_3867+30insACA (n.3867+29_3867+30insACA)
c.*3697+29_*3697+30insACA (n.*3697+29_*3697+30insACA)
c.3447+29_3447+30insACA (n.3447+29_3447+30insACA)
c.621+29_621+30insACA (n.621+29_621+30insACA)
c.1660+29_1660+30insACA (n.1660+29_1660+30insACA)
c.455+29_455+30insACA
c.1323+29_1323+30insACA
c.3783+29_3783+30insACA (n.3783+29_3783+30insACA)
c.3963+29_3963+30insACA (n.3963+29_3963+30insACA)
c.3630+29_3630+30insACA (n.3630+29_3630+30insACA)
7g.117642623G>ACA4451568CFTRc.*82+30G>A (n.*82+30G>A)
c.*3587+30G>A (n.*3587+30G>A)
c.3690+30G>A (n.3690+30G>A)
c.3873+30G>A (n.3873+30G>A)
c.*526+30G>A (n.*526+30G>A)
c.*534+30G>A (n.*534+30G>A)
c.*2248+30G>A (n.*2248+30G>A)
c.3867+30G>A (n.3867+30G>A)
c.*3697+30G>A (n.*3697+30G>A)
c.3447+30G>A (n.3447+30G>A)
c.621+30G>A (n.621+30G>A)
c.1660+30G>A (n.1660+30G>A)
c.455+30G>A
c.1323+30G>A
c.3783+30G>A (n.3783+30G>A)
c.3963+30G>A (n.3963+30G>A)
c.3630+30G>A (n.3630+30G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.117642623G>CCA2777590834CFTRc.*82+30G>C (n.*82+30G>C)
c.*3587+30G>C (n.*3587+30G>C)
c.3690+30G>C (n.3690+30G>C)
c.3873+30G>C (n.3873+30G>C)
c.*526+30G>C (n.*526+30G>C)
c.*534+30G>C (n.*534+30G>C)
c.*2248+30G>C (n.*2248+30G>C)
c.3867+30G>C (n.3867+30G>C)
c.*3697+30G>C (n.*3697+30G>C)
c.3447+30G>C (n.3447+30G>C)
c.621+30G>C (n.621+30G>C)
c.1660+30G>C (n.1660+30G>C)
c.455+30G>C
c.1323+30G>C
c.3783+30G>C (n.3783+30G>C)
c.3963+30G>C (n.3963+30G>C)
c.3630+30G>C (n.3630+30G>C)
7g.117642623G=CA1737404838CFTRc.*82+30G= (n.*82+30G=)
c.*3587+30G= (n.*3587+30G=)
c.3690+30G= (n.3690+30G=)
c.3873+30G= (n.3873+30G=)
c.*526+30G= (n.*526+30G=)
c.*534+30G= (n.*534+30G=)
c.*2248+30G= (n.*2248+30G=)
c.3867+30G= (n.3867+30G=)
c.*3697+30G= (n.*3697+30G=)
c.3447+30G= (n.3447+30G=)
c.621+30G= (n.621+30G=)
c.1660+30G= (n.1660+30G=)
c.455+30G=
c.1323+30G=
c.3783+30G= (n.3783+30G=)
c.3963+30G= (n.3963+30G=)
c.3630+30G= (n.3630+30G=)
7g.117642623G>TCA2684620478CFTRc.*82+30G>T (n.*82+30G>T)
c.*3587+30G>T (n.*3587+30G>T)
c.3690+30G>T (n.3690+30G>T)
c.3873+30G>T (n.3873+30G>T)
c.*526+30G>T (n.*526+30G>T)
c.*534+30G>T (n.*534+30G>T)
c.*2248+30G>T (n.*2248+30G>T)
c.3867+30G>T (n.3867+30G>T)
c.*3697+30G>T (n.*3697+30G>T)
c.3447+30G>T (n.3447+30G>T)
c.621+30G>T (n.621+30G>T)
c.1660+30G>T (n.1660+30G>T)
c.455+30G>T
c.1323+30G>T
c.3783+30G>T (n.3783+30G>T)
c.3963+30G>T (n.3963+30G>T)
c.3630+30G>T (n.3630+30G>T)
gnomAD v4
7g.117642623_117642624insATAACA577224075CFTRc.*82+30_*82+31insATAA (n.*82+30_*82+31insATAA)
c.*3587+30_*3587+31insATAA (n.*3587+30_*3587+31insATAA)
c.3690+30_3690+31insATAA (n.3690+30_3690+31insATAA)
c.3873+30_3873+31insATAA (n.3873+30_3873+31insATAA)
c.*526+30_*526+31insATAA (n.*526+30_*526+31insATAA)
c.*534+30_*534+31insATAA (n.*534+30_*534+31insATAA)
c.*2248+30_*2248+31insATAA (n.*2248+30_*2248+31insATAA)
c.3867+30_3867+31insATAA (n.3867+30_3867+31insATAA)
c.*3697+30_*3697+31insATAA (n.*3697+30_*3697+31insATAA)
c.3447+30_3447+31insATAA (n.3447+30_3447+31insATAA)
c.621+30_621+31insATAA (n.621+30_621+31insATAA)
c.1660+30_1660+31insATAA (n.1660+30_1660+31insATAA)
c.455+30_455+31insATAA
c.1323+30_1323+31insATAA
c.3783+30_3783+31insATAA (n.3783+30_3783+31insATAA)
c.3963+30_3963+31insATAA (n.3963+30_3963+31insATAA)
c.3630+30_3630+31insATAA (n.3630+30_3630+31insATAA)
gnomAD v2
7g.117642624C=CA1737404839CFTRc.*82+31C= (n.*82+31C=)
c.*3587+31C= (n.*3587+31C=)
c.3690+31C= (n.3690+31C=)
c.3873+31C= (n.3873+31C=)
c.*526+31C= (n.*526+31C=)
c.*534+31C= (n.*534+31C=)
c.*2248+31C= (n.*2248+31C=)
c.3867+31C= (n.3867+31C=)
c.*3697+31C= (n.*3697+31C=)
c.3447+31C= (n.3447+31C=)
c.621+31C= (n.621+31C=)
c.1660+31C= (n.1660+31C=)
c.455+31C=
c.1323+31C=
c.3783+31C= (n.3783+31C=)
c.3963+31C= (n.3963+31C=)
c.3630+31C= (n.3630+31C=)
7g.117642624C>TCA577224076CFTRc.*82+31C>T (n.*82+31C>T)
c.*3587+31C>T (n.*3587+31C>T)
c.3690+31C>T (n.3690+31C>T)
c.3873+31C>T (n.3873+31C>T)
c.*526+31C>T (n.*526+31C>T)
c.*534+31C>T (n.*534+31C>T)
c.*2248+31C>T (n.*2248+31C>T)
c.3867+31C>T (n.3867+31C>T)
c.*3697+31C>T (n.*3697+31C>T)
c.3447+31C>T (n.3447+31C>T)
c.621+31C>T (n.621+31C>T)
c.1660+31C>T (n.1660+31C>T)
c.455+31C>T
c.1323+31C>T
c.3783+31C>T (n.3783+31C>T)
c.3963+31C>T (n.3963+31C>T)
c.3630+31C>T (n.3630+31C>T)
dbSNP gnomAD v2 gnomAD v4
7g.117642625A>TCA2684620479CFTRc.*82+32A>T (n.*82+32A>T)
c.*3587+32A>T (n.*3587+32A>T)
c.3690+32A>T (n.3690+32A>T)
c.3873+32A>T (n.3873+32A>T)
c.*526+32A>T (n.*526+32A>T)
c.*534+32A>T (n.*534+32A>T)
c.*2248+32A>T (n.*2248+32A>T)
c.3867+32A>T (n.3867+32A>T)
c.*3697+32A>T (n.*3697+32A>T)
c.3447+32A>T (n.3447+32A>T)
c.621+32A>T (n.621+32A>T)
c.1660+32A>T (n.1660+32A>T)
c.455+32A>T
c.1323+32A>T
c.3783+32A>T (n.3783+32A>T)
c.3963+32A>T (n.3963+32A>T)
c.3630+32A>T (n.3630+32A>T)
gnomAD v4
7g.117642626A=CA1737404840CFTRc.*82+33A= (n.*82+33A=)
c.*3587+33A= (n.*3587+33A=)
c.3690+33A= (n.3690+33A=)
c.3873+33A= (n.3873+33A=)
c.*526+33A= (n.*526+33A=)
c.*534+33A= (n.*534+33A=)
c.*2248+33A= (n.*2248+33A=)
c.3867+33A= (n.3867+33A=)
c.*3697+33A= (n.*3697+33A=)
c.3447+33A= (n.3447+33A=)
c.621+33A= (n.621+33A=)
c.1660+33A= (n.1660+33A=)
c.455+33A=
c.1323+33A=
c.3783+33A= (n.3783+33A=)
c.3963+33A= (n.3963+33A=)
c.3630+33A= (n.3630+33A=)
7g.117642626A>GCA327318CFTRc.*82+33A>G (n.*82+33A>G)
c.*3587+33A>G (n.*3587+33A>G)
c.3690+33A>G (n.3690+33A>G)
c.3873+33A>G (n.3873+33A>G)
c.*526+33A>G (n.*526+33A>G)
c.*534+33A>G (n.*534+33A>G)
c.*2248+33A>G (n.*2248+33A>G)
c.3867+33A>G (n.3867+33A>G)
c.*3697+33A>G (n.*3697+33A>G)
c.3447+33A>G (n.3447+33A>G)
c.621+33A>G (n.621+33A>G)
c.1660+33A>G (n.1660+33A>G)
c.455+33A>G
c.1323+33A>G
c.3783+33A>G (n.3783+33A>G)
c.3963+33A>G (n.3963+33A>G)
c.3630+33A>G (n.3630+33A>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117642626_117642627insTGCA2777590839CFTRc.*82+33_*82+34insTG (n.*82+33_*82+34insTG)
c.*3587+33_*3587+34insTG (n.*3587+33_*3587+34insTG)
c.3690+33_3690+34insTG (n.3690+33_3690+34insTG)
c.3873+33_3873+34insTG (n.3873+33_3873+34insTG)
c.*526+33_*526+34insTG (n.*526+33_*526+34insTG)
c.*534+33_*534+34insTG (n.*534+33_*534+34insTG)
c.*2248+33_*2248+34insTG (n.*2248+33_*2248+34insTG)
c.3867+33_3867+34insTG (n.3867+33_3867+34insTG)
c.*3697+33_*3697+34insTG (n.*3697+33_*3697+34insTG)
c.3447+33_3447+34insTG (n.3447+33_3447+34insTG)
c.621+33_621+34insTG (n.621+33_621+34insTG)
c.1660+33_1660+34insTG (n.1660+33_1660+34insTG)
c.455+33_455+34insTG
c.1323+33_1323+34insTG
c.3783+33_3783+34insTG (n.3783+33_3783+34insTG)
c.3963+33_3963+34insTG (n.3963+33_3963+34insTG)
c.3630+33_3630+34insTG (n.3630+33_3630+34insTG)
7g.117642627C>ACA2684620480CFTRc.*82+34C>A (n.*82+34C>A)
c.*3587+34C>A (n.*3587+34C>A)
c.3690+34C>A (n.3690+34C>A)
c.3873+34C>A (n.3873+34C>A)
c.*526+34C>A (n.*526+34C>A)
c.*534+34C>A (n.*534+34C>A)
c.*2248+34C>A (n.*2248+34C>A)
c.3867+34C>A (n.3867+34C>A)
c.*3697+34C>A (n.*3697+34C>A)
c.3447+34C>A (n.3447+34C>A)
c.621+34C>A (n.621+34C>A)
c.1660+34C>A (n.1660+34C>A)
c.455+34C>A
c.1323+34C>A
c.3783+34C>A (n.3783+34C>A)
c.3963+34C>A (n.3963+34C>A)
c.3630+34C>A (n.3630+34C>A)
gnomAD v4
7g.117642627_117642628insACA2777590843CFTRc.*82+34_*82+35insA (n.*82+34_*82+35insA)
c.*3587+34_*3587+35insA (n.*3587+34_*3587+35insA)
c.3690+34_3690+35insA (n.3690+34_3690+35insA)
c.3873+34_3873+35insA (n.3873+34_3873+35insA)
c.*526+34_*526+35insA (n.*526+34_*526+35insA)
c.*534+34_*534+35insA (n.*534+34_*534+35insA)
c.*2248+34_*2248+35insA (n.*2248+34_*2248+35insA)
c.3867+34_3867+35insA (n.3867+34_3867+35insA)
c.*3697+34_*3697+35insA (n.*3697+34_*3697+35insA)
c.3447+34_3447+35insA (n.3447+34_3447+35insA)
c.621+34_621+35insA (n.621+34_621+35insA)
c.1660+34_1660+35insA (n.1660+34_1660+35insA)
c.455+34_455+35insA
c.1323+34_1323+35insA
c.3783+34_3783+35insA (n.3783+34_3783+35insA)
c.3963+34_3963+35insA (n.3963+34_3963+35insA)
c.3630+34_3630+35insA (n.3630+34_3630+35insA)
7g.117642628delCA2684620481CFTRc.*82+35del (n.*82+35del)
c.*3587+35del (n.*3587+35del)
c.3690+35del (n.3690+35del)
c.3873+35del (n.3873+35del)
c.*526+35del (n.*526+35del)
c.*534+35del (n.*534+35del)
c.*2248+35del (n.*2248+35del)
c.3867+35del (n.3867+35del)
c.*3697+35del (n.*3697+35del)
c.3447+35del (n.3447+35del)
c.621+35del (n.621+35del)
c.1660+35del (n.1660+35del)
c.455+35del
c.1323+35del
c.3783+35del (n.3783+35del)
c.3963+35del (n.3963+35del)
c.3630+35del (n.3630+35del)
gnomAD v4
7g.117642628T>ACA577224077CFTRc.*82+35T>A (n.*82+35T>A)
c.*3587+35T>A (n.*3587+35T>A)
c.3690+35T>A (n.3690+35T>A)
c.3873+35T>A (n.3873+35T>A)
c.*526+35T>A (n.*526+35T>A)
c.*534+35T>A (n.*534+35T>A)
c.*2248+35T>A (n.*2248+35T>A)
c.3867+35T>A (n.3867+35T>A)
c.*3697+35T>A (n.*3697+35T>A)
c.3447+35T>A (n.3447+35T>A)
c.621+35T>A (n.621+35T>A)
c.1660+35T>A (n.1660+35T>A)
c.455+35T>A
c.1323+35T>A
c.3783+35T>A (n.3783+35T>A)
c.3963+35T>A (n.3963+35T>A)
c.3630+35T>A (n.3630+35T>A)
dbSNP gnomAD v2 gnomAD v4
7g.117642628T>CCA4451569CFTRc.*82+35T>C (n.*82+35T>C)
c.*3587+35T>C (n.*3587+35T>C)
c.3690+35T>C (n.3690+35T>C)
c.3873+35T>C (n.3873+35T>C)
c.*526+35T>C (n.*526+35T>C)
c.*534+35T>C (n.*534+35T>C)
c.*2248+35T>C (n.*2248+35T>C)
c.3867+35T>C (n.3867+35T>C)
c.*3697+35T>C (n.*3697+35T>C)
c.3447+35T>C (n.3447+35T>C)
c.621+35T>C (n.621+35T>C)
c.1660+35T>C (n.1660+35T>C)
c.455+35T>C
c.1323+35T>C
c.3783+35T>C (n.3783+35T>C)
c.3963+35T>C (n.3963+35T>C)
c.3630+35T>C (n.3630+35T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.117642628T=CA1737404841CFTRc.*82+35T= (n.*82+35T=)
c.*3587+35T= (n.*3587+35T=)
c.3690+35T= (n.3690+35T=)
c.3873+35T= (n.3873+35T=)
c.*526+35T= (n.*526+35T=)
c.*534+35T= (n.*534+35T=)
c.*2248+35T= (n.*2248+35T=)
c.3867+35T= (n.3867+35T=)
c.*3697+35T= (n.*3697+35T=)
c.3447+35T= (n.3447+35T=)
c.621+35T= (n.621+35T=)
c.1660+35T= (n.1660+35T=)
c.455+35T=
c.1323+35T=
c.3783+35T= (n.3783+35T=)
c.3963+35T= (n.3963+35T=)
c.3630+35T= (n.3630+35T=)
7g.117642629A=CA1737404842CFTRc.*82+36A= (n.*82+36A=)
c.*3587+36A= (n.*3587+36A=)
c.3690+36A= (n.3690+36A=)
c.3873+36A= (n.3873+36A=)
c.*526+36A= (n.*526+36A=)
c.*534+36A= (n.*534+36A=)
c.*2248+36A= (n.*2248+36A=)
c.3867+36A= (n.3867+36A=)
c.*3697+36A= (n.*3697+36A=)
c.3447+36A= (n.3447+36A=)
c.621+36A= (n.621+36A=)
c.1660+36A= (n.1660+36A=)
c.455+36A=
c.1323+36A=
c.3783+36A= (n.3783+36A=)
c.3963+36A= (n.3963+36A=)
c.3630+36A= (n.3630+36A=)
7g.117642629A>GCA1737404843CFTRc.*82+36A>G (n.*82+36A>G)
c.*3587+36A>G (n.*3587+36A>G)
c.3690+36A>G (n.3690+36A>G)
c.3873+36A>G (n.3873+36A>G)
c.*526+36A>G (n.*526+36A>G)
c.*534+36A>G (n.*534+36A>G)
c.*2248+36A>G (n.*2248+36A>G)
c.3867+36A>G (n.3867+36A>G)
c.*3697+36A>G (n.*3697+36A>G)
c.3447+36A>G (n.3447+36A>G)
c.621+36A>G (n.621+36A>G)
c.1660+36A>G (n.1660+36A>G)
c.455+36A>G
c.1323+36A>G
c.3783+36A>G (n.3783+36A>G)
c.3963+36A>G (n.3963+36A>G)
c.3630+36A>G (n.3630+36A>G)
dbSNP gnomAD v4
7g.117642630_117642631insCACA2777590844CFTRc.*82+37_*82+38insCA (n.*82+37_*82+38insCA)
c.*3587+37_*3587+38insCA (n.*3587+37_*3587+38insCA)
c.3690+37_3690+38insCA (n.3690+37_3690+38insCA)
c.3873+37_3873+38insCA (n.3873+37_3873+38insCA)
c.*526+37_*526+38insCA (n.*526+37_*526+38insCA)
c.*534+37_*534+38insCA (n.*534+37_*534+38insCA)
c.*2248+37_*2248+38insCA (n.*2248+37_*2248+38insCA)
c.3867+37_3867+38insCA (n.3867+37_3867+38insCA)
c.*3697+37_*3697+38insCA (n.*3697+37_*3697+38insCA)
c.3447+37_3447+38insCA (n.3447+37_3447+38insCA)
c.621+37_621+38insCA (n.621+37_621+38insCA)
c.1660+37_1660+38insCA (n.1660+37_1660+38insCA)
c.455+37_455+38insCA
c.1323+37_1323+38insCA
c.3783+37_3783+38insCA (n.3783+37_3783+38insCA)
c.3963+37_3963+38insCA (n.3963+37_3963+38insCA)
c.3630+37_3630+38insCA (n.3630+37_3630+38insCA)
7g.117642631A>GCA2684620482CFTRc.*82+38A>G (n.*82+38A>G)
c.*3587+38A>G (n.*3587+38A>G)
c.3690+38A>G (n.3690+38A>G)
c.3873+38A>G (n.3873+38A>G)
c.*526+38A>G (n.*526+38A>G)
c.*534+38A>G (n.*534+38A>G)
c.*2248+38A>G (n.*2248+38A>G)
c.3867+38A>G (n.3867+38A>G)
c.*3697+38A>G (n.*3697+38A>G)
c.3447+38A>G (n.3447+38A>G)
c.621+38A>G (n.621+38A>G)
c.1660+38A>G (n.1660+38A>G)
c.455+38A>G
c.1323+38A>G
c.3783+38A>G (n.3783+38A>G)
c.3963+38A>G (n.3963+38A>G)
c.3630+38A>G (n.3630+38A>G)
gnomAD v4
7g.117642632T>ACA2777590846CFTRc.*82+39T>A (n.*82+39T>A)
c.*3587+39T>A (n.*3587+39T>A)
c.3690+39T>A (n.3690+39T>A)
c.3873+39T>A (n.3873+39T>A)
c.*526+39T>A (n.*526+39T>A)
c.*534+39T>A (n.*534+39T>A)
c.*2248+39T>A (n.*2248+39T>A)
c.3867+39T>A (n.3867+39T>A)
c.*3697+39T>A (n.*3697+39T>A)
c.3447+39T>A (n.3447+39T>A)
c.621+39T>A (n.621+39T>A)
c.1660+39T>A (n.1660+39T>A)
c.455+39T>A
c.1323+39T>A
c.3783+39T>A (n.3783+39T>A)
c.3963+39T>A (n.3963+39T>A)
c.3630+39T>A (n.3630+39T>A)
7g.117642633T>ACA2777590848CFTRc.*82+40T>A (n.*82+40T>A)
c.*3587+40T>A (n.*3587+40T>A)
c.3690+40T>A (n.3690+40T>A)
c.3873+40T>A (n.3873+40T>A)
c.*526+40T>A (n.*526+40T>A)
c.*534+40T>A (n.*534+40T>A)
c.*2248+40T>A (n.*2248+40T>A)
c.3867+40T>A (n.3867+40T>A)
c.*3697+40T>A (n.*3697+40T>A)
c.3447+40T>A (n.3447+40T>A)
c.621+40T>A (n.621+40T>A)
c.1660+40T>A (n.1660+40T>A)
c.455+40T>A
c.1323+40T>A
c.3783+40T>A (n.3783+40T>A)
c.3963+40T>A (n.3963+40T>A)
c.3630+40T>A (n.3630+40T>A)
7g.117642634A=CA1737404844CFTRc.*82+41A= (n.*82+41A=)
c.*3587+41A= (n.*3587+41A=)
c.3690+41A= (n.3690+41A=)
c.3873+41A= (n.3873+41A=)
c.*526+41A= (n.*526+41A=)
c.*534+41A= (n.*534+41A=)
c.*2248+41A= (n.*2248+41A=)
c.3867+41A= (n.3867+41A=)
c.*3697+41A= (n.*3697+41A=)
c.3447+41A= (n.3447+41A=)
c.621+41A= (n.621+41A=)
c.1660+41A= (n.1660+41A=)
c.455+41A=
c.1323+41A=
c.3783+41A= (n.3783+41A=)
c.3963+41A= (n.3963+41A=)
c.3630+41A= (n.3630+41A=)
7g.117642634A>GCA577224078CFTRc.*82+41A>G (n.*82+41A>G)
c.*3587+41A>G (n.*3587+41A>G)
c.3690+41A>G (n.3690+41A>G)
c.3873+41A>G (n.3873+41A>G)
c.*526+41A>G (n.*526+41A>G)
c.*534+41A>G (n.*534+41A>G)
c.*2248+41A>G (n.*2248+41A>G)
c.3867+41A>G (n.3867+41A>G)
c.*3697+41A>G (n.*3697+41A>G)
c.3447+41A>G (n.3447+41A>G)
c.621+41A>G (n.621+41A>G)
c.1660+41A>G (n.1660+41A>G)
c.455+41A>G
c.1323+41A>G
c.3783+41A>G (n.3783+41A>G)
c.3963+41A>G (n.3963+41A>G)
c.3630+41A>G (n.3630+41A>G)
dbSNP gnomAD v2 gnomAD v4
7g.117642635T>CCA2684620483CFTRc.*82+42T>C (n.*82+42T>C)
c.*3587+42T>C (n.*3587+42T>C)
c.3690+42T>C (n.3690+42T>C)
c.3873+42T>C (n.3873+42T>C)
c.*526+42T>C (n.*526+42T>C)
c.*534+42T>C (n.*534+42T>C)
c.*2248+42T>C (n.*2248+42T>C)
c.3867+42T>C (n.3867+42T>C)
c.*3697+42T>C (n.*3697+42T>C)
c.3447+42T>C (n.3447+42T>C)
c.621+42T>C (n.621+42T>C)
c.1660+42T>C (n.1660+42T>C)
c.455+42T>C
c.1323+42T>C
c.3783+42T>C (n.3783+42T>C)
c.3963+42T>C (n.3963+42T>C)
c.3630+42T>C (n.3630+42T>C)
gnomAD v4
7g.117642636A>GCA2684620484CFTRc.*82+43A>G (n.*82+43A>G)
c.*3587+43A>G (n.*3587+43A>G)
c.3690+43A>G (n.3690+43A>G)
c.3873+43A>G (n.3873+43A>G)
c.*526+43A>G (n.*526+43A>G)
c.*534+43A>G (n.*534+43A>G)
c.*2248+43A>G (n.*2248+43A>G)
c.3867+43A>G (n.3867+43A>G)
c.*3697+43A>G (n.*3697+43A>G)
c.3447+43A>G (n.3447+43A>G)
c.621+43A>G (n.621+43A>G)
c.1660+43A>G (n.1660+43A>G)
c.455+43A>G
c.1323+43A>G
c.3783+43A>G (n.3783+43A>G)
c.3963+43A>G (n.3963+43A>G)
c.3630+43A>G (n.3630+43A>G)
gnomAD v4
7g.117642636_117642637delinsATCA1737404845CFTRc.*82+43_*82+44delinsAT (n.*82+43_*82+44delinsAT)
c.*3587+43_*3587+44delinsAT (n.*3587+43_*3587+44delinsAT)
c.3690+43_3690+44delinsAT (n.3690+43_3690+44delinsAT)
c.3873+43_3873+44delinsAT (n.3873+43_3873+44delinsAT)
c.*526+43_*526+44delinsAT (n.*526+43_*526+44delinsAT)
c.*534+43_*534+44delinsAT (n.*534+43_*534+44delinsAT)
c.*2248+43_*2248+44delinsAT (n.*2248+43_*2248+44delinsAT)
c.3867+43_3867+44delinsAT (n.3867+43_3867+44delinsAT)
c.*3697+43_*3697+44delinsAT (n.*3697+43_*3697+44delinsAT)
c.3447+43_3447+44delinsAT (n.3447+43_3447+44delinsAT)
c.621+43_621+44delinsAT (n.621+43_621+44delinsAT)
c.1660+43_1660+44delinsAT (n.1660+43_1660+44delinsAT)
c.455+43_455+44delinsAT
c.1323+43_1323+44delinsAT
c.3783+43_3783+44delinsAT (n.3783+43_3783+44delinsAT)
c.3963+43_3963+44delinsAT (n.3963+43_3963+44delinsAT)
c.3630+43_3630+44delinsAT (n.3630+43_3630+44delinsAT)
7g.117642637T>CCA2684620485CFTRc.*82+44T>C (n.*82+44T>C)
c.*3587+44T>C (n.*3587+44T>C)
c.3690+44T>C (n.3690+44T>C)
c.3873+44T>C (n.3873+44T>C)
c.*526+44T>C (n.*526+44T>C)
c.*534+44T>C (n.*534+44T>C)
c.*2248+44T>C (n.*2248+44T>C)
c.3867+44T>C (n.3867+44T>C)
c.*3697+44T>C (n.*3697+44T>C)
c.3447+44T>C (n.3447+44T>C)
c.621+44T>C (n.621+44T>C)
c.1660+44T>C (n.1660+44T>C)
c.455+44T>C
c.1323+44T>C
c.3783+44T>C (n.3783+44T>C)
c.3963+44T>C (n.3963+44T>C)
c.3630+44T>C (n.3630+44T>C)
gnomAD v4
7g.117642642dupCA164947775CFTRc.*82+49dup (n.*82+49dup)
c.*3587+49dup (n.*3587+49dup)
c.3690+49dup (n.3690+49dup)
c.3873+49dup (n.3873+49dup)
c.*526+49dup (n.*526+49dup)
c.*534+49dup (n.*534+49dup)
c.*2248+49dup (n.*2248+49dup)
c.3867+49dup (n.3867+49dup)
c.*3697+49dup (n.*3697+49dup)
c.3447+49dup (n.3447+49dup)
c.621+49dup (n.621+49dup)
c.1660+49dup (n.1660+49dup)
c.455+49dup
c.1323+49dup
c.3783+49dup (n.3783+49dup)
c.3963+49dup (n.3963+49dup)
c.3630+49dup (n.3630+49dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117642642delCA577224079CFTRc.*82+49del (n.*82+49del)
c.*3587+49del (n.*3587+49del)
c.3690+49del (n.3690+49del)
c.3873+49del (n.3873+49del)
c.*526+49del (n.*526+49del)
c.*534+49del (n.*534+49del)
c.*2248+49del (n.*2248+49del)
c.3867+49del (n.3867+49del)
c.*3697+49del (n.*3697+49del)
c.3447+49del (n.3447+49del)
c.621+49del (n.621+49del)
c.1660+49del (n.1660+49del)
c.455+49del
c.1323+49del
c.3783+49del (n.3783+49del)
c.3963+49del (n.3963+49del)
c.3630+49del (n.3630+49del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117642638T>ACA2684620486CFTRc.*82+45T>A (n.*82+45T>A)
c.*3587+45T>A (n.*3587+45T>A)
c.3690+45T>A (n.3690+45T>A)
c.3873+45T>A (n.3873+45T>A)
c.*526+45T>A (n.*526+45T>A)
c.*534+45T>A (n.*534+45T>A)
c.*2248+45T>A (n.*2248+45T>A)
c.3867+45T>A (n.3867+45T>A)
c.*3697+45T>A (n.*3697+45T>A)
c.3447+45T>A (n.3447+45T>A)
c.621+45T>A (n.621+45T>A)
c.1660+45T>A (n.1660+45T>A)
c.455+45T>A
c.1323+45T>A
c.3783+45T>A (n.3783+45T>A)
c.3963+45T>A (n.3963+45T>A)
c.3630+45T>A (n.3630+45T>A)
gnomAD v4
7g.117642638T>CCA1737404846CFTRc.*82+45T>C (n.*82+45T>C)
c.*3587+45T>C (n.*3587+45T>C)
c.3690+45T>C (n.3690+45T>C)
c.3873+45T>C (n.3873+45T>C)
c.*526+45T>C (n.*526+45T>C)
c.*534+45T>C (n.*534+45T>C)
c.*2248+45T>C (n.*2248+45T>C)
c.3867+45T>C (n.3867+45T>C)
c.*3697+45T>C (n.*3697+45T>C)
c.3447+45T>C (n.3447+45T>C)
c.621+45T>C (n.621+45T>C)
c.1660+45T>C (n.1660+45T>C)
c.455+45T>C
c.1323+45T>C
c.3783+45T>C (n.3783+45T>C)
c.3963+45T>C (n.3963+45T>C)
c.3630+45T>C (n.3630+45T>C)
dbSNP
7g.117642638T=CA1737404847CFTRc.*82+45T= (n.*82+45T=)
c.*3587+45T= (n.*3587+45T=)
c.3690+45T= (n.3690+45T=)
c.3873+45T= (n.3873+45T=)
c.*526+45T= (n.*526+45T=)
c.*534+45T= (n.*534+45T=)
c.*2248+45T= (n.*2248+45T=)
c.3867+45T= (n.3867+45T=)
c.*3697+45T= (n.*3697+45T=)
c.3447+45T= (n.3447+45T=)
c.621+45T= (n.621+45T=)
c.1660+45T= (n.1660+45T=)
c.455+45T=
c.1323+45T=
c.3783+45T= (n.3783+45T=)
c.3963+45T= (n.3963+45T=)
c.3630+45T= (n.3630+45T=)

Number of alleles fetched