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.117642433_117642445delCA2499218698CFTRc.3518-5_3525del
c.*3432-5_*3439del
c.3535-5_3542del
c.3718-5_3725del
c.*371-5_*378del
c.*379-5_*386del
c.*2093-5_*2100del
c.3712-5_3719del
c.*3542-5_*3549del
c.3292-5_3299del
c.466-5_473del
c.1505-5_1512del
c.300-5_307del
c.1168-5_1175del
c.3628-5_3635del
c.3808-5_3815del
c.3475-5_3482del
 ClinVar dbSNP
7g.117642439T>ACA368974403CFTRc.3519T>A (p.Gly1173=)
c.*3433T>A (n.*3433T>A)
c.3536T>A (p.Val1179Glu)
c.3719T>A (p.Val1240Glu)
c.*372T>A (n.*372T>A)
c.*380T>A (n.*380T>A)
c.*2094T>A (n.*2094T>A)
c.3713T>A (p.Val1238Glu)
c.*3543T>A (n.*3543T>A)
c.3293T>A (p.Val1098Glu)
c.467T>A (p.Val156Glu)
c.1506T>A (n.1506T>A)
c.301T>A
c.1169T>A
c.3629T>A (p.Val1210Glu)
c.3809T>A (p.Val1270Glu)
c.3476T>A (p.Val1159Glu)
7g.117642439T>CCA368974405CFTRc.3519T>C (p.Gly1173=)
c.*3433T>C (n.*3433T>C)
c.3536T>C (p.Val1179Ala)
c.3719T>C (p.Val1240Ala)
c.*372T>C (n.*372T>C)
c.*380T>C (n.*380T>C)
c.*2094T>C (n.*2094T>C)
c.3713T>C (p.Val1238Ala)
c.*3543T>C (n.*3543T>C)
c.3293T>C (p.Val1098Ala)
c.467T>C (p.Val156Ala)
c.1506T>C (n.1506T>C)
c.301T>C
c.1169T>C
c.3629T>C (p.Val1210Ala)
c.3809T>C (p.Val1270Ala)
c.3476T>C (p.Val1159Ala)
7g.117642439T>GCA327262CFTRc.3519T>G (p.Gly1173=)
c.*3433T>G (n.*3433T>G)
c.3536T>G (p.Val1179Gly)
c.3719T>G (p.Val1240Gly)
c.*372T>G (n.*372T>G)
c.*380T>G (n.*380T>G)
c.*2094T>G (n.*2094T>G)
c.3713T>G (p.Val1238Gly)
c.*3543T>G (n.*3543T>G)
c.3293T>G (p.Val1098Gly)
c.467T>G (p.Val156Gly)
c.1506T>G (n.1506T>G)
c.301T>G
c.1169T>G
c.3629T>G (p.Val1210Gly)
c.3809T>G (p.Val1270Gly)
c.3476T>G (p.Val1159Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117642439T=CA1737404725CFTRc.3519T= (p.Gly1173=)
c.*3433T= (n.*3433T=)
c.3536T= (p.Val1179=)
c.3719T= (p.Val1240=)
c.*372T= (n.*372T=)
c.*380T= (n.*380T=)
c.*2094T= (n.*2094T=)
c.3713T= (p.Val1238=)
c.*3543T= (n.*3543T=)
c.3293T= (p.Val1098=)
c.467T= (p.Val156=)
c.1506T= (n.1506T=)
c.301T=
c.1169T=
c.3629T= (p.Val1210=)
c.3809T= (p.Val1270=)
c.3476T= (p.Val1159=)
7g.117642440G>ACA457228053CFTRc.3520G>A (p.Gly1174Arg)
c.*3434G>A (n.*3434G>A)
c.3537G>A (p.Val1179=)
c.3720G>A (p.Val1240=)
c.*373G>A (n.*373G>A)
c.*381G>A (n.*381G>A)
c.*2095G>A (n.*2095G>A)
c.3714G>A (p.Val1238=)
c.*3544G>A (n.*3544G>A)
c.3294G>A (p.Val1098=)
c.468G>A (p.Val156=)
c.1507G>A (n.1507G>A)
c.302G>A
c.1170G>A
c.3630G>A (p.Val1210=)
c.3810G>A (p.Val1270=)
c.3477G>A (p.Val1159=)
7g.117642440G>CCA457228054CFTRc.3520G>C (p.Gly1174Arg)
c.*3434G>C (n.*3434G>C)
c.3537G>C (p.Val1179=)
c.3720G>C (p.Val1240=)
c.*373G>C (n.*373G>C)
c.*381G>C (n.*381G>C)
c.*2095G>C (n.*2095G>C)
c.3714G>C (p.Val1238=)
c.*3544G>C (n.*3544G>C)
c.3294G>C (p.Val1098=)
c.468G>C (p.Val156=)
c.1507G>C (n.1507G>C)
c.302G>C
c.1170G>C
c.3630G>C (p.Val1210=)
c.3810G>C (p.Val1270=)
c.3477G>C (p.Val1159=)
7g.117642440G>TCA457228055CFTRc.3520G>T (p.Gly1174Trp)
c.*3434G>T (n.*3434G>T)
c.3537G>T (p.Val1179=)
c.3720G>T (p.Val1240=)
c.*373G>T (n.*373G>T)
c.*381G>T (n.*381G>T)
c.*2095G>T (n.*2095G>T)
c.3714G>T (p.Val1238=)
c.*3544G>T (n.*3544G>T)
c.3294G>T (p.Val1098=)
c.468G>T (p.Val156=)
c.1507G>T (n.1507G>T)
c.302G>T
c.1170G>T
c.3630G>T (p.Val1210=)
c.3810G>T (p.Val1270=)
c.3477G>T (p.Val1159=)
7g.117642441G>ACA368974409CFTRc.3521G>A (p.Gly1174Glu)
c.*3435G>A (n.*3435G>A)
c.3538G>A (p.Gly1180Ser)
c.3721G>A (p.Gly1241Ser)
c.*374G>A (n.*374G>A)
c.*382G>A (n.*382G>A)
c.*2096G>A (n.*2096G>A)
c.3715G>A (p.Gly1239Ser)
c.*3545G>A (n.*3545G>A)
c.3295G>A (p.Gly1099Ser)
c.469G>A (p.Gly157Ser)
c.1508G>A (n.1508G>A)
c.303G>A
c.1171G>A
c.3631G>A (p.Gly1211Ser)
c.3811G>A (p.Gly1271Ser)
c.3478G>A (p.Gly1160Ser)
 ClinVar
7g.117642441G>CCA368974411CFTRc.3521G>C (p.Gly1174Ala)
c.*3435G>C (n.*3435G>C)
c.3538G>C (p.Gly1180Arg)
c.3721G>C (p.Gly1241Arg)
c.*374G>C (n.*374G>C)
c.*382G>C (n.*382G>C)
c.*2096G>C (n.*2096G>C)
c.3715G>C (p.Gly1239Arg)
c.*3545G>C (n.*3545G>C)
c.3295G>C (p.Gly1099Arg)
c.469G>C (p.Gly157Arg)
c.1508G>C (n.1508G>C)
c.303G>C
c.1171G>C
c.3631G>C (p.Gly1211Arg)
c.3811G>C (p.Gly1271Arg)
c.3478G>C (p.Gly1160Arg)
7g.117642441G>TCA368974414CFTRc.3521G>T (p.Gly1174Val)
c.*3435G>T (n.*3435G>T)
c.3538G>T (p.Gly1180Cys)
c.3721G>T (p.Gly1241Cys)
c.*374G>T (n.*374G>T)
c.*382G>T (n.*382G>T)
c.*2096G>T (n.*2096G>T)
c.3715G>T (p.Gly1239Cys)
c.*3545G>T (n.*3545G>T)
c.3295G>T (p.Gly1099Cys)
c.469G>T (p.Gly157Cys)
c.1508G>T (n.1508G>T)
c.303G>T
c.1171G>T
c.3631G>T (p.Gly1211Cys)
c.3811G>T (p.Gly1271Cys)
c.3478G>T (p.Gly1160Cys)
7g.117642442G>ACA368974417CFTRc.3522G>A (p.Gly1174=)
c.*3436G>A (n.*3436G>A)
c.3539G>A (p.Gly1180Asp)
c.3722G>A (p.Gly1241Asp)
c.*375G>A (n.*375G>A)
c.*383G>A (n.*383G>A)
c.*2097G>A (n.*2097G>A)
c.3716G>A (p.Gly1239Asp)
c.*3546G>A (n.*3546G>A)
c.3296G>A (p.Gly1099Asp)
c.470G>A (p.Gly157Asp)
c.1509G>A (n.1509G>A)
c.304G>A
c.1172G>A
c.3632G>A (p.Gly1211Asp)
c.3812G>A (p.Gly1271Asp)
c.3479G>A (p.Gly1160Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117642442G>CCA368974418CFTRc.3522G>C (p.Gly1174=)
c.*3436G>C (n.*3436G>C)
c.3539G>C (p.Gly1180Ala)
c.3722G>C (p.Gly1241Ala)
c.*375G>C (n.*375G>C)
c.*383G>C (n.*383G>C)
c.*2097G>C (n.*2097G>C)
c.3716G>C (p.Gly1239Ala)
c.*3546G>C (n.*3546G>C)
c.3296G>C (p.Gly1099Ala)
c.470G>C (p.Gly157Ala)
c.1509G>C (n.1509G>C)
c.304G>C
c.1172G>C
c.3632G>C (p.Gly1211Ala)
c.3812G>C (p.Gly1271Ala)
c.3479G>C (p.Gly1160Ala)
7g.117642442G=CA1737404726CFTRc.3522G= (p.Gly1174=)
c.*3436G= (n.*3436G=)
c.3539G= (p.Gly1180=)
c.3722G= (p.Gly1241=)
c.*375G= (n.*375G=)
c.*383G= (n.*383G=)
c.*2097G= (n.*2097G=)
c.3716G= (p.Gly1239=)
c.*3546G= (n.*3546G=)
c.3296G= (p.Gly1099=)
c.470G= (p.Gly157=)
c.1509G= (n.1509G=)
c.304G=
c.1172G=
c.3632G= (p.Gly1211=)
c.3812G= (p.Gly1271=)
c.3479G= (p.Gly1160=)
7g.117642442G>TCA368974420CFTRc.3522G>T (p.Gly1174=)
c.*3436G>T (n.*3436G>T)
c.3539G>T (p.Gly1180Val)
c.3722G>T (p.Gly1241Val)
c.*375G>T (n.*375G>T)
c.*383G>T (n.*383G>T)
c.*2097G>T (n.*2097G>T)
c.3716G>T (p.Gly1239Val)
c.*3546G>T (n.*3546G>T)
c.3296G>T (p.Gly1099Val)
c.470G>T (p.Gly157Val)
c.1509G>T (n.1509G>T)
c.304G>T
c.1172G>T
c.3632G>T (p.Gly1211Val)
c.3812G>T (p.Gly1271Val)
c.3479G>T (p.Gly1160Val)
7g.117642443C>ACA4451540CFTRc.3523C>A (p.Pro1175Thr)
c.*3437C>A (n.*3437C>A)
c.3540C>A (p.Gly1180=)
c.3723C>A (p.Gly1241=)
c.*376C>A (n.*376C>A)
c.*384C>A (n.*384C>A)
c.*2098C>A (n.*2098C>A)
c.3717C>A (p.Gly1239=)
c.*3547C>A (n.*3547C>A)
c.3297C>A (p.Gly1099=)
c.471C>A (p.Gly157=)
c.1510C>A (n.1510C>A)
c.305C>A
c.1173C>A
c.3633C>A (p.Gly1211=)
c.3813C>A (p.Gly1271=)
c.3480C>A (p.Gly1160=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642443C=CA1737404727CFTRc.3523C= (p.Pro1175=)
c.*3437C= (n.*3437C=)
c.3540C= (p.Gly1180=)
c.3723C= (p.Gly1241=)
c.*376C= (n.*376C=)
c.*384C= (n.*384C=)
c.*2098C= (n.*2098C=)
c.3717C= (p.Gly1239=)
c.*3547C= (n.*3547C=)
c.3297C= (p.Gly1099=)
c.471C= (p.Gly157=)
c.1510C= (n.1510C=)
c.305C=
c.1173C=
c.3633C= (p.Gly1211=)
c.3813C= (p.Gly1271=)
c.3480C= (p.Gly1160=)
7g.117642443C>GCA457228056CFTRc.3523C>G (p.Pro1175Ala)
c.*3437C>G (n.*3437C>G)
c.3540C>G (p.Gly1180=)
c.3723C>G (p.Gly1241=)
c.*376C>G (n.*376C>G)
c.*384C>G (n.*384C>G)
c.*2098C>G (n.*2098C>G)
c.3717C>G (p.Gly1239=)
c.*3547C>G (n.*3547C>G)
c.3297C>G (p.Gly1099=)
c.471C>G (p.Gly157=)
c.1510C>G (n.1510C>G)
c.305C>G
c.1173C>G
c.3633C>G (p.Gly1211=)
c.3813C>G (p.Gly1271=)
c.3480C>G (p.Gly1160=)
7g.117642443C>TCA164947466CFTRc.3523C>T (p.Pro1175Ser)
c.*3437C>T (n.*3437C>T)
c.3540C>T (p.Gly1180=)
c.3723C>T (p.Gly1241=)
c.*376C>T (n.*376C>T)
c.*384C>T (n.*384C>T)
c.*2098C>T (n.*2098C>T)
c.3717C>T (p.Gly1239=)
c.*3547C>T (n.*3547C>T)
c.3297C>T (p.Gly1099=)
c.471C>T (p.Gly157=)
c.1510C>T (n.1510C>T)
c.305C>T
c.1173C>T
c.3633C>T (p.Gly1211=)
c.3813C>T (p.Gly1271=)
c.3480C>T (p.Gly1160=)
 dbSNP
7g.117642444C>ACA368974425CFTRc.3524C>A (p.Pro1175His)
c.*3438C>A (n.*3438C>A)
c.3541C>A (p.Leu1181Ile)
c.3724C>A (p.Leu1242Ile)
c.*377C>A (n.*377C>A)
c.*385C>A (n.*385C>A)
c.*2099C>A (n.*2099C>A)
c.3718C>A (p.Leu1240Ile)
c.*3548C>A (n.*3548C>A)
c.3298C>A (p.Leu1100Ile)
c.472C>A (p.Leu158Ile)
c.1511C>A (n.1511C>A)
c.306C>A
c.1174C>A
c.3634C>A (p.Leu1212Ile)
c.3814C>A (p.Leu1272Ile)
c.3481C>A (p.Leu1161Ile)
7g.117642444C=CA1737404728CFTRc.3524C= (p.Pro1175=)
c.*3438C= (n.*3438C=)
c.3541C= (p.Leu1181=)
c.3724C= (p.Leu1242=)
c.*377C= (n.*377C=)
c.*385C= (n.*385C=)
c.*2099C= (n.*2099C=)
c.3718C= (p.Leu1240=)
c.*3548C= (n.*3548C=)
c.3298C= (p.Leu1100=)
c.472C= (p.Leu158=)
c.1511C= (n.1511C=)
c.306C=
c.1174C=
c.3634C= (p.Leu1212=)
c.3814C= (p.Leu1272=)
c.3481C= (p.Leu1161=)
7g.117642444C>GCA368974427CFTRc.3524C>G (p.Pro1175Arg)
c.*3438C>G (n.*3438C>G)
c.3541C>G (p.Leu1181Val)
c.3724C>G (p.Leu1242Val)
c.*377C>G (n.*377C>G)
c.*385C>G (n.*385C>G)
c.*2099C>G (n.*2099C>G)
c.3718C>G (p.Leu1240Val)
c.*3548C>G (n.*3548C>G)
c.3298C>G (p.Leu1100Val)
c.472C>G (p.Leu158Val)
c.1511C>G (n.1511C>G)
c.306C>G
c.1174C>G
c.3634C>G (p.Leu1212Val)
c.3814C>G (p.Leu1272Val)
c.3481C>G (p.Leu1161Val)
7g.117642444C>TCA368974429CFTRc.3524C>T (p.Pro1175Leu)
c.*3438C>T (n.*3438C>T)
c.3541C>T (p.Leu1181Phe)
c.3724C>T (p.Leu1242Phe)
c.*377C>T (n.*377C>T)
c.*385C>T (n.*385C>T)
c.*2099C>T (n.*2099C>T)
c.3718C>T (p.Leu1240Phe)
c.*3548C>T (n.*3548C>T)
c.3298C>T (p.Leu1100Phe)
c.472C>T (p.Leu158Phe)
c.1511C>T (n.1511C>T)
c.306C>T
c.1174C>T
c.3634C>T (p.Leu1212Phe)
c.3814C>T (p.Leu1272Phe)
c.3481C>T (p.Leu1161Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117642445delCA2573141565CFTRc.3525del (p.Lys1178ArgfsTer?)
c.*3439del (n.*3439del)
c.3542del (p.Leu1181ProfsTer17)
c.3725del (p.Leu1242ProfsTer17)
c.*378del (n.*378del)
c.*386del (n.*386del)
c.*2100del (n.*2100del)
c.3719del (p.Leu1240ProfsTer17)
c.*3549del (n.*3549del)
c.3299del (p.Leu1100ProfsTer17)
c.473del (p.Leu158ProfsTer17)
c.1512del (n.1512del)
c.307del
c.1175del
c.3635del (p.Leu1212ProfsTer17)
c.3815del (p.Leu1272ProfsTer17)
c.3482del (p.Leu1161ProfsTer17)
 ClinVar dbSNP
7g.117642445T>ACA368974433CFTRc.3525T>A (p.Pro1175=)
c.*3439T>A (n.*3439T>A)
c.3542T>A (p.Leu1181His)
c.3725T>A (p.Leu1242His)
c.*378T>A (n.*378T>A)
c.*386T>A (n.*386T>A)
c.*2100T>A (n.*2100T>A)
c.3719T>A (p.Leu1240His)
c.*3549T>A (n.*3549T>A)
c.3299T>A (p.Leu1100His)
c.473T>A (p.Leu158His)
c.1512T>A (n.1512T>A)
c.307T>A
c.1175T>A
c.3635T>A (p.Leu1212His)
c.3815T>A (p.Leu1272His)
c.3482T>A (p.Leu1161His)
 ClinVar
7g.117642445T>CCA368974436CFTRc.3525T>C (p.Pro1175=)
c.*3439T>C (n.*3439T>C)
c.3542T>C (p.Leu1181Pro)
c.3725T>C (p.Leu1242Pro)
c.*378T>C (n.*378T>C)
c.*386T>C (n.*386T>C)
c.*2100T>C (n.*2100T>C)
c.3719T>C (p.Leu1240Pro)
c.*3549T>C (n.*3549T>C)
c.3299T>C (p.Leu1100Pro)
c.473T>C (p.Leu158Pro)
c.1512T>C (n.1512T>C)
c.307T>C
c.1175T>C
c.3635T>C (p.Leu1212Pro)
c.3815T>C (p.Leu1272Pro)
c.3482T>C (p.Leu1161Pro)
7g.117642445T>GCA368974432CFTRc.3525T>G (p.Pro1175=)
c.*3439T>G (n.*3439T>G)
c.3542T>G (p.Leu1181Arg)
c.3725T>G (p.Leu1242Arg)
c.*378T>G (n.*378T>G)
c.*386T>G (n.*386T>G)
c.*2100T>G (n.*2100T>G)
c.3719T>G (p.Leu1240Arg)
c.*3549T>G (n.*3549T>G)
c.3299T>G (p.Leu1100Arg)
c.473T>G (p.Leu158Arg)
c.1512T>G (n.1512T>G)
c.307T>G
c.1175T>G
c.3635T>G (p.Leu1212Arg)
c.3815T>G (p.Leu1272Arg)
c.3482T>G (p.Leu1161Arg)
7g.117642446C>ACA457228058CFTRc.3526C>A (p.Leu1176Ile)
c.*3440C>A (n.*3440C>A)
c.3543C>A (p.Leu1181=)
c.3726C>A (p.Leu1242=)
c.*379C>A (n.*379C>A)
c.*387C>A (n.*387C>A)
c.*2101C>A (n.*2101C>A)
c.3720C>A (p.Leu1240=)
c.*3550C>A (n.*3550C>A)
c.3300C>A (p.Leu1100=)
c.474C>A (p.Leu158=)
c.1513C>A (n.1513C>A)
c.308C>A
c.1176C>A
c.3636C>A (p.Leu1212=)
c.3816C>A (p.Leu1272=)
c.3483C>A (p.Leu1161=)
7g.117642446C=CA1737404729CFTRc.3526C= (p.Leu1176=)
c.*3440C= (n.*3440C=)
c.3543C= (p.Leu1181=)
c.3726C= (p.Leu1242=)
c.*379C= (n.*379C=)
c.*387C= (n.*387C=)
c.*2101C= (n.*2101C=)
c.3720C= (p.Leu1240=)
c.*3550C= (n.*3550C=)
c.3300C= (p.Leu1100=)
c.474C= (p.Leu158=)
c.1513C= (n.1513C=)
c.308C=
c.1176C=
c.3636C= (p.Leu1212=)
c.3816C= (p.Leu1272=)
c.3483C= (p.Leu1161=)
7g.117642446C>GCA457228057CFTRc.3526C>G (p.Leu1176Val)
c.*3440C>G (n.*3440C>G)
c.3543C>G (p.Leu1181=)
c.3726C>G (p.Leu1242=)
c.*379C>G (n.*379C>G)
c.*387C>G (n.*387C>G)
c.*2101C>G (n.*2101C>G)
c.3720C>G (p.Leu1240=)
c.*3550C>G (n.*3550C>G)
c.3300C>G (p.Leu1100=)
c.474C>G (p.Leu158=)
c.1513C>G (n.1513C>G)
c.308C>G
c.1176C>G
c.3636C>G (p.Leu1212=)
c.3816C>G (p.Leu1272=)
c.3483C>G (p.Leu1161=)
 ClinVar dbSNP
7g.117642446C>TCA4451541CFTRc.3526C>T (p.Leu1176Phe)
c.*3440C>T (n.*3440C>T)
c.3543C>T (p.Leu1181=)
c.3726C>T (p.Leu1242=)
c.*379C>T (n.*379C>T)
c.*387C>T (n.*387C>T)
c.*2101C>T (n.*2101C>T)
c.3720C>T (p.Leu1240=)
c.*3550C>T (n.*3550C>T)
c.3300C>T (p.Leu1100=)
c.474C>T (p.Leu158=)
c.1513C>T (n.1513C>T)
c.308C>T
c.1176C>T
c.3636C>T (p.Leu1212=)
c.3816C>T (p.Leu1272=)
c.3483C>T (p.Leu1161=)
 ClinVar dbSNP ExAC gnomAD v2
7g.117642447T>ACA368974440CFTRc.3527T>A (p.Leu1176His)
c.*3441T>A (n.*3441T>A)
c.3544T>A (p.Leu1182Met)
c.3727T>A (p.Leu1243Met)
c.*380T>A (n.*380T>A)
c.*388T>A (n.*388T>A)
c.*2102T>A (n.*2102T>A)
c.3721T>A (p.Leu1241Met)
c.*3551T>A (n.*3551T>A)
c.3301T>A (p.Leu1101Met)
c.475T>A (p.Leu159Met)
c.1514T>A (n.1514T>A)
c.309T>A
c.1177T>A
c.3637T>A (p.Leu1213Met)
c.3817T>A (p.Leu1273Met)
c.3484T>A (p.Leu1162Met)
7g.117642447T>CCA457228059CFTRc.3527T>C (p.Leu1176Pro)
c.*3441T>C (n.*3441T>C)
c.3544T>C (p.Leu1182=)
c.3727T>C (p.Leu1243=)
c.*380T>C (n.*380T>C)
c.*388T>C (n.*388T>C)
c.*2102T>C (n.*2102T>C)
c.3721T>C (p.Leu1241=)
c.*3551T>C (n.*3551T>C)
c.3301T>C (p.Leu1101=)
c.475T>C (p.Leu159=)
c.1514T>C (n.1514T>C)
c.309T>C
c.1177T>C
c.3637T>C (p.Leu1213=)
c.3817T>C (p.Leu1273=)
c.3484T>C (p.Leu1162=)
 ClinVar dbSNP gnomAD v4
7g.117642447T>GCA368974442CFTRc.3527T>G (p.Leu1176Arg)
c.*3441T>G (n.*3441T>G)
c.3544T>G (p.Leu1182Val)
c.3727T>G (p.Leu1243Val)
c.*380T>G (n.*380T>G)
c.*388T>G (n.*388T>G)
c.*2102T>G (n.*2102T>G)
c.3721T>G (p.Leu1241Val)
c.*3551T>G (n.*3551T>G)
c.3301T>G (p.Leu1101Val)
c.475T>G (p.Leu159Val)
c.1514T>G (n.1514T>G)
c.309T>G
c.1177T>G
c.3637T>G (p.Leu1213Val)
c.3817T>G (p.Leu1273Val)
c.3484T>G (p.Leu1162Val)
 dbSNP
7g.117642447T=CA1737404730CFTRc.3527T= (p.Leu1176=)
c.*3441T= (n.*3441T=)
c.3544T= (p.Leu1182=)
c.3727T= (p.Leu1243=)
c.*380T= (n.*380T=)
c.*388T= (n.*388T=)
c.*2102T= (n.*2102T=)
c.3721T= (p.Leu1241=)
c.*3551T= (n.*3551T=)
c.3301T= (p.Leu1101=)
c.475T= (p.Leu159=)
c.1514T= (n.1514T=)
c.309T=
c.1177T=
c.3637T= (p.Leu1213=)
c.3817T= (p.Leu1273=)
c.3484T= (p.Leu1162=)
7g.117642448T>ACA368974444CFTRc.3528T>A (p.Leu1176=)
c.*3442T>A (n.*3442T>A)
c.3545T>A (p.Leu1182Ter)
c.3728T>A (p.Leu1243Ter)
c.*381T>A (n.*381T>A)
c.*389T>A (n.*389T>A)
c.*2103T>A (n.*2103T>A)
c.3722T>A (p.Leu1241Ter)
c.*3552T>A (n.*3552T>A)
c.3302T>A (p.Leu1101Ter)
c.476T>A (p.Leu159Ter)
c.1515T>A (n.1515T>A)
c.310T>A
c.1178T>A
c.3638T>A (p.Leu1213Ter)
c.3818T>A (p.Leu1273Ter)
c.3485T>A (p.Leu1162Ter)
 ClinVar dbSNP
7g.117642448T>CCA368974446CFTRc.3528T>C (p.Leu1176=)
c.*3442T>C (n.*3442T>C)
c.3545T>C (p.Leu1182Ser)
c.3728T>C (p.Leu1243Ser)
c.*381T>C (n.*381T>C)
c.*389T>C (n.*389T>C)
c.*2103T>C (n.*2103T>C)
c.3722T>C (p.Leu1241Ser)
c.*3552T>C (n.*3552T>C)
c.3302T>C (p.Leu1101Ser)
c.476T>C (p.Leu159Ser)
c.1515T>C (n.1515T>C)
c.310T>C
c.1178T>C
c.3638T>C (p.Leu1213Ser)
c.3818T>C (p.Leu1273Ser)
c.3485T>C (p.Leu1162Ser)
7g.117642448T>GCA368974448CFTRc.3528T>G (p.Leu1176=)
c.*3442T>G (n.*3442T>G)
c.3545T>G (p.Leu1182Trp)
c.3728T>G (p.Leu1243Trp)
c.*381T>G (n.*381T>G)
c.*389T>G (n.*389T>G)
c.*2103T>G (n.*2103T>G)
c.3722T>G (p.Leu1241Trp)
c.*3552T>G (n.*3552T>G)
c.3302T>G (p.Leu1101Trp)
c.476T>G (p.Leu159Trp)
c.1515T>G (n.1515T>G)
c.310T>G
c.1178T>G
c.3638T>G (p.Leu1213Trp)
c.3818T>G (p.Leu1273Trp)
c.3485T>G (p.Leu1162Trp)
 ClinVar gnomAD v4
7g.117642448T=CA1737404731CFTRc.3528T= (p.Leu1176=)
c.*3442T= (n.*3442T=)
c.3545T= (p.Leu1182=)
c.3728T= (p.Leu1243=)
c.*381T= (n.*381T=)
c.*389T= (n.*389T=)
c.*2103T= (n.*2103T=)
c.3722T= (p.Leu1241=)
c.*3552T= (n.*3552T=)
c.3302T= (p.Leu1101=)
c.476T= (p.Leu159=)
c.1515T= (n.1515T=)
c.310T=
c.1178T=
c.3638T= (p.Leu1213=)
c.3818T= (p.Leu1273=)
c.3485T= (p.Leu1162=)
7g.117642448_117642463dupCA2695205217CFTRc.3528_3543dup (p.Arg1182TrpfsTer16)
c.*3442_*3457dup (n.*3442_*3457dup)
c.3545_3560dup (p.Ser1190AsnfsTer19)
c.3728_3743dup (p.Ser1251AsnfsTer19)
c.*381_*396dup (n.*381_*396dup)
c.*389_*404dup (n.*389_*404dup)
c.*2103_*2118dup (n.*2103_*2118dup)
c.3722_3737dup (p.Ser1249AsnfsTer19)
c.*3552_*3567dup (n.*3552_*3567dup)
c.3302_3317dup (p.Ser1109AsnfsTer19)
c.476_491dup (p.Ser167AsnfsTer19)
c.1515_1530dup (n.1515_1530dup)
c.310_325dup
c.1178_1193dup
c.3638_3653dup (p.Ser1221AsnfsTer19)
c.3818_3833dup (p.Ser1281AsnfsTer19)
c.3485_3500dup (p.Ser1170AsnfsTer19)
7g.117642449G>ACA457228060CFTRc.3529G>A (p.Gly1177Arg)
c.*3443G>A (n.*3443G>A)
c.3546G>A (p.Leu1182=)
c.3729G>A (p.Leu1243=)
c.*382G>A (n.*382G>A)
c.*390G>A (n.*390G>A)
c.*2104G>A (n.*2104G>A)
c.3723G>A (p.Leu1241=)
c.*3553G>A (n.*3553G>A)
c.3303G>A (p.Leu1101=)
c.477G>A (p.Leu159=)
c.1516G>A (n.1516G>A)
c.311G>A
c.1179G>A
c.3639G>A (p.Leu1213=)
c.3819G>A (p.Leu1273=)
c.3486G>A (p.Leu1162=)
7g.117642449G>CCA368974449CFTRc.3529G>C (p.Gly1177Arg)
c.*3443G>C (n.*3443G>C)
c.3546G>C (p.Leu1182Phe)
c.3729G>C (p.Leu1243Phe)
c.*382G>C (n.*382G>C)
c.*390G>C (n.*390G>C)
c.*2104G>C (n.*2104G>C)
c.3723G>C (p.Leu1241Phe)
c.*3553G>C (n.*3553G>C)
c.3303G>C (p.Leu1101Phe)
c.477G>C (p.Leu159Phe)
c.1516G>C (n.1516G>C)
c.311G>C
c.1179G>C
c.3639G>C (p.Leu1213Phe)
c.3819G>C (p.Leu1273Phe)
c.3486G>C (p.Leu1162Phe)
7g.117642449G>TCA368974451CFTRc.3529G>T (p.Gly1177Trp)
c.*3443G>T (n.*3443G>T)
c.3546G>T (p.Leu1182Phe)
c.3729G>T (p.Leu1243Phe)
c.*382G>T (n.*382G>T)
c.*390G>T (n.*390G>T)
c.*2104G>T (n.*2104G>T)
c.3723G>T (p.Leu1241Phe)
c.*3553G>T (n.*3553G>T)
c.3303G>T (p.Leu1101Phe)
c.477G>T (p.Leu159Phe)
c.1516G>T (n.1516G>T)
c.311G>T
c.1179G>T
c.3639G>T (p.Leu1213Phe)
c.3819G>T (p.Leu1273Phe)
c.3486G>T (p.Leu1162Phe)
7g.117642450G>ACA327264CFTRc.3530G>A (p.Gly1177Glu)
c.*3444G>A (n.*3444G>A)
c.3547G>A (p.Gly1183Arg)
c.3730G>A (p.Gly1244Arg)
c.*383G>A (n.*383G>A)
c.*391G>A (n.*391G>A)
c.*2105G>A (n.*2105G>A)
c.3724G>A (p.Gly1242Arg)
c.*3554G>A (n.*3554G>A)
c.3304G>A (p.Gly1102Arg)
c.478G>A (p.Gly160Arg)
c.1517G>A (n.1517G>A)
c.312G>A
c.1180G>A
c.3640G>A (p.Gly1214Arg)
c.3820G>A (p.Gly1274Arg)
c.3487G>A (p.Gly1163Arg)
 ClinVar dbSNP
7g.117642450G>CCA368974453CFTRc.3530G>C (p.Gly1177Ala)
c.*3444G>C (n.*3444G>C)
c.3547G>C (p.Gly1183Arg)
c.3730G>C (p.Gly1244Arg)
c.*383G>C (n.*383G>C)
c.*391G>C (n.*391G>C)
c.*2105G>C (n.*2105G>C)
c.3724G>C (p.Gly1242Arg)
c.*3554G>C (n.*3554G>C)
c.3304G>C (p.Gly1102Arg)
c.478G>C (p.Gly160Arg)
c.1517G>C (n.1517G>C)
c.312G>C
c.1180G>C
c.3640G>C (p.Gly1214Arg)
c.3820G>C (p.Gly1274Arg)
c.3487G>C (p.Gly1163Arg)
7g.117642450G=CA1737404732CFTRc.3530G= (p.Gly1177=)
c.*3444G= (n.*3444G=)
c.3547G= (p.Gly1183=)
c.3730G= (p.Gly1244=)
c.*383G= (n.*383G=)
c.*391G= (n.*391G=)
c.*2105G= (n.*2105G=)
c.3724G= (p.Gly1242=)
c.*3554G= (n.*3554G=)
c.3304G= (p.Gly1102=)
c.478G= (p.Gly160=)
c.1517G= (n.1517G=)
c.312G=
c.1180G=
c.3640G= (p.Gly1214=)
c.3820G= (p.Gly1274=)
c.3487G= (p.Gly1163=)
7g.117642450G>TCA368974454CFTRc.3530G>T (p.Gly1177Val)
c.*3444G>T (n.*3444G>T)
c.3547G>T (p.Gly1183Ter)
c.3730G>T (p.Gly1244Ter)
c.*383G>T (n.*383G>T)
c.*391G>T (n.*391G>T)
c.*2105G>T (n.*2105G>T)
c.3724G>T (p.Gly1242Ter)
c.*3554G>T (n.*3554G>T)
c.3304G>T (p.Gly1102Ter)
c.478G>T (p.Gly160Ter)
c.1517G>T (n.1517G>T)
c.312G>T
c.1180G>T
c.3640G>T (p.Gly1214Ter)
c.3820G>T (p.Gly1274Ter)
c.3487G>T (p.Gly1163Ter)
7g.117642451G>ACA328120CFTRc.3531G>A (p.Gly1177=)
c.*3445G>A (n.*3445G>A)
c.3548G>A (p.Gly1183Glu)
c.3731G>A (p.Gly1244Glu)
c.*384G>A (n.*384G>A)
c.*392G>A (n.*392G>A)
c.*2106G>A (n.*2106G>A)
c.3725G>A (p.Gly1242Glu)
c.*3555G>A (n.*3555G>A)
c.3305G>A (p.Gly1102Glu)
c.479G>A (p.Gly160Glu)
c.1518G>A (n.1518G>A)
c.313G>A
c.1181G>A
c.3641G>A (p.Gly1214Glu)
c.3821G>A (p.Gly1274Glu)
c.3488G>A (p.Gly1163Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642451G>CCA368974455CFTRc.3531G>C (p.Gly1177=)
c.*3445G>C (n.*3445G>C)
c.3548G>C (p.Gly1183Ala)
c.3731G>C (p.Gly1244Ala)
c.*384G>C (n.*384G>C)
c.*392G>C (n.*392G>C)
c.*2106G>C (n.*2106G>C)
c.3725G>C (p.Gly1242Ala)
c.*3555G>C (n.*3555G>C)
c.3305G>C (p.Gly1102Ala)
c.479G>C (p.Gly160Ala)
c.1518G>C (n.1518G>C)
c.313G>C
c.1181G>C
c.3641G>C (p.Gly1214Ala)
c.3821G>C (p.Gly1274Ala)
c.3488G>C (p.Gly1163Ala)
7g.117642451G=CA1737404733CFTRc.3531G= (p.Gly1177=)
c.*3445G= (n.*3445G=)
c.3548G= (p.Gly1183=)
c.3731G= (p.Gly1244=)
c.*384G= (n.*384G=)
c.*392G= (n.*392G=)
c.*2106G= (n.*2106G=)
c.3725G= (p.Gly1242=)
c.*3555G= (n.*3555G=)
c.3305G= (p.Gly1102=)
c.479G= (p.Gly160=)
c.1518G= (n.1518G=)
c.313G=
c.1181G=
c.3641G= (p.Gly1214=)
c.3821G= (p.Gly1274=)
c.3488G= (p.Gly1163=)
7g.117642451G>TCA327266CFTRc.3531G>T (p.Gly1177=)
c.*3445G>T (n.*3445G>T)
c.3548G>T (p.Gly1183Val)
c.3731G>T (p.Gly1244Val)
c.*384G>T (n.*384G>T)
c.*392G>T (n.*392G>T)
c.*2106G>T (n.*2106G>T)
c.3725G>T (p.Gly1242Val)
c.*3555G>T (n.*3555G>T)
c.3305G>T (p.Gly1102Val)
c.479G>T (p.Gly160Val)
c.1518G>T (n.1518G>T)
c.313G>T
c.1181G>T
c.3641G>T (p.Gly1214Val)
c.3821G>T (p.Gly1274Val)
c.3488G>T (p.Gly1163Val)
 ClinVar dbSNP
7g.117642452A>CCA457228061CFTRc.3532A>C (p.Lys1178Gln)
c.*3446A>C (n.*3446A>C)
c.3549A>C (p.Gly1183=)
c.3732A>C (p.Gly1244=)
c.*385A>C (n.*385A>C)
c.*393A>C (n.*393A>C)
c.*2107A>C (n.*2107A>C)
c.3726A>C (p.Gly1242=)
c.*3556A>C (n.*3556A>C)
c.3306A>C (p.Gly1102=)
c.480A>C (p.Gly160=)
c.1519A>C (n.1519A>C)
c.314A>C
c.1182A>C
c.3642A>C (p.Gly1214=)
c.3822A>C (p.Gly1274=)
c.3489A>C (p.Gly1163=)
 gnomAD v4
7g.117642452A>GCA457228062CFTRc.3532A>G (p.Lys1178Glu)
c.*3446A>G (n.*3446A>G)
c.3549A>G (p.Gly1183=)
c.3732A>G (p.Gly1244=)
c.*385A>G (n.*385A>G)
c.*393A>G (n.*393A>G)
c.*2107A>G (n.*2107A>G)
c.3726A>G (p.Gly1242=)
c.*3556A>G (n.*3556A>G)
c.3306A>G (p.Gly1102=)
c.480A>G (p.Gly160=)
c.1519A>G (n.1519A>G)
c.314A>G
c.1182A>G
c.3642A>G (p.Gly1214=)
c.3822A>G (p.Gly1274=)
c.3489A>G (p.Gly1163=)
7g.117642452A>TCA457228063CFTRc.3532A>T (p.Lys1178Ter)
c.*3446A>T (n.*3446A>T)
c.3549A>T (p.Gly1183=)
c.3732A>T (p.Gly1244=)
c.*385A>T (n.*385A>T)
c.*393A>T (n.*393A>T)
c.*2107A>T (n.*2107A>T)
c.3726A>T (p.Gly1242=)
c.*3556A>T (n.*3556A>T)
c.3306A>T (p.Gly1102=)
c.480A>T (p.Gly160=)
c.1519A>T (n.1519A>T)
c.314A>T
c.1182A>T
c.3642A>T (p.Gly1214=)
c.3822A>T (p.Gly1274=)
c.3489A>T (p.Gly1163=)
7g.117642453A>CCA457228064CFTRc.3533A>C (p.Lys1178Thr)
c.*3447A>C (n.*3447A>C)
c.3550A>C (p.Arg1184=)
c.3733A>C (p.Arg1245=)
c.*386A>C (n.*386A>C)
c.*394A>C (n.*394A>C)
c.*2108A>C (n.*2108A>C)
c.3727A>C (p.Arg1243=)
c.*3557A>C (n.*3557A>C)
c.3307A>C (p.Arg1103=)
c.481A>C (p.Arg161=)
c.1520A>C (n.1520A>C)
c.315A>C
c.1183A>C
c.3643A>C (p.Arg1215=)
c.3823A>C (p.Arg1275=)
c.3490A>C (p.Arg1164=)
7g.117642453A>GCA368974462CFTRc.3533A>G (p.Lys1178Arg)
c.*3447A>G (n.*3447A>G)
c.3550A>G (p.Arg1184Gly)
c.3733A>G (p.Arg1245Gly)
c.*386A>G (n.*386A>G)
c.*394A>G (n.*394A>G)
c.*2108A>G (n.*2108A>G)
c.3727A>G (p.Arg1243Gly)
c.*3557A>G (n.*3557A>G)
c.3307A>G (p.Arg1103Gly)
c.481A>G (p.Arg161Gly)
c.1520A>G (n.1520A>G)
c.315A>G
c.1183A>G
c.3643A>G (p.Arg1215Gly)
c.3823A>G (p.Arg1275Gly)
c.3490A>G (p.Arg1164Gly)
7g.117642453A>TCA368974460CFTRc.3533A>T (p.Lys1178Met)
c.*3447A>T (n.*3447A>T)
c.3550A>T (p.Arg1184Ter)
c.3733A>T (p.Arg1245Ter)
c.*386A>T (n.*386A>T)
c.*394A>T (n.*394A>T)
c.*2108A>T (n.*2108A>T)
c.3727A>T (p.Arg1243Ter)
c.*3557A>T (n.*3557A>T)
c.3307A>T (p.Arg1103Ter)
c.481A>T (p.Arg161Ter)
c.1520A>T (n.1520A>T)
c.315A>T
c.1183A>T
c.3643A>T (p.Arg1215Ter)
c.3823A>T (p.Arg1275Ter)
c.3490A>T (p.Arg1164Ter)
7g.117642454G>ACA368974465CFTRc.3534G>A (p.Lys1178=)
c.*3448G>A (n.*3448G>A)
c.3551G>A (p.Arg1184Lys)
c.3734G>A (p.Arg1245Lys)
c.*387G>A (n.*387G>A)
c.*395G>A (n.*395G>A)
c.*2109G>A (n.*2109G>A)
c.3728G>A (p.Arg1243Lys)
c.*3558G>A (n.*3558G>A)
c.3308G>A (p.Arg1103Lys)
c.482G>A (p.Arg161Lys)
c.1521G>A (n.1521G>A)
c.316G>A
c.1184G>A
c.3644G>A (p.Arg1215Lys)
c.3824G>A (p.Arg1275Lys)
c.3491G>A (p.Arg1164Lys)
7g.117642454G>CCA368974466CFTRc.3534G>C (p.Lys1178Asn)
c.*3448G>C (n.*3448G>C)
c.3551G>C (p.Arg1184Thr)
c.3734G>C (p.Arg1245Thr)
c.*387G>C (n.*387G>C)
c.*395G>C (n.*395G>C)
c.*2109G>C (n.*2109G>C)
c.3728G>C (p.Arg1243Thr)
c.*3558G>C (n.*3558G>C)
c.3308G>C (p.Arg1103Thr)
c.482G>C (p.Arg161Thr)
c.1521G>C (n.1521G>C)
c.316G>C
c.1184G>C
c.3644G>C (p.Arg1215Thr)
c.3824G>C (p.Arg1275Thr)
c.3491G>C (p.Arg1164Thr)
7g.117642454G>TCA368974469CFTRc.3534G>T (p.Lys1178Asn)
c.*3448G>T (n.*3448G>T)
c.3551G>T (p.Arg1184Ile)
c.3734G>T (p.Arg1245Ile)
c.*387G>T (n.*387G>T)
c.*395G>T (n.*395G>T)
c.*2109G>T (n.*2109G>T)
c.3728G>T (p.Arg1243Ile)
c.*3558G>T (n.*3558G>T)
c.3308G>T (p.Arg1103Ile)
c.482G>T (p.Arg161Ile)
c.1521G>T (n.1521G>T)
c.316G>T
c.1184G>T
c.3644G>T (p.Arg1215Ile)
c.3824G>T (p.Arg1275Ile)
c.3491G>T (p.Arg1164Ile)
7g.117642455A=CA1737404734CFTRc.3535A= (p.Asn1179=)
c.*3449A= (n.*3449A=)
c.3552A= (p.Arg1184=)
c.3735A= (p.Arg1245=)
c.*388A= (n.*388A=)
c.*396A= (n.*396A=)
c.*2110A= (n.*2110A=)
c.3729A= (p.Arg1243=)
c.*3559A= (n.*3559A=)
c.3309A= (p.Arg1103=)
c.483A= (p.Arg161=)
c.1522A= (n.1522A=)
c.317A=
c.1185A=
c.3645A= (p.Arg1215=)
c.3825A= (p.Arg1275=)
c.3492A= (p.Arg1164=)
7g.117642455A>CCA368974472CFTRc.3535A>C (p.Asn1179His)
c.*3449A>C (n.*3449A>C)
c.3552A>C (p.Arg1184Ser)
c.3735A>C (p.Arg1245Ser)
c.*388A>C (n.*388A>C)
c.*396A>C (n.*396A>C)
c.*2110A>C (n.*2110A>C)
c.3729A>C (p.Arg1243Ser)
c.*3559A>C (n.*3559A>C)
c.3309A>C (p.Arg1103Ser)
c.483A>C (p.Arg161Ser)
c.1522A>C (n.1522A>C)
c.317A>C
c.1185A>C
c.3645A>C (p.Arg1215Ser)
c.3825A>C (p.Arg1275Ser)
c.3492A>C (p.Arg1164Ser)
7g.117642455A>GCA164947483CFTRc.3535A>G (p.Asn1179Asp)
c.*3449A>G (n.*3449A>G)
c.3552A>G (p.Arg1184=)
c.3735A>G (p.Arg1245=)
c.*388A>G (n.*388A>G)
c.*396A>G (n.*396A>G)
c.*2110A>G (n.*2110A>G)
c.3729A>G (p.Arg1243=)
c.*3559A>G (n.*3559A>G)
c.3309A>G (p.Arg1103=)
c.483A>G (p.Arg161=)
c.1522A>G (n.1522A>G)
c.317A>G
c.1185A>G
c.3645A>G (p.Arg1215=)
c.3825A>G (p.Arg1275=)
c.3492A>G (p.Arg1164=)
 ClinVar dbSNP
7g.117642455A>TCA368974474CFTRc.3535A>T (p.Asn1179Tyr)
c.*3449A>T (n.*3449A>T)
c.3552A>T (p.Arg1184Ser)
c.3735A>T (p.Arg1245Ser)
c.*388A>T (n.*388A>T)
c.*396A>T (n.*396A>T)
c.*2110A>T (n.*2110A>T)
c.3729A>T (p.Arg1243Ser)
c.*3559A>T (n.*3559A>T)
c.3309A>T (p.Arg1103Ser)
c.483A>T (p.Arg161Ser)
c.1522A>T (n.1522A>T)
c.317A>T
c.1185A>T
c.3645A>T (p.Arg1215Ser)
c.3825A>T (p.Arg1275Ser)
c.3492A>T (p.Arg1164Ser)
 dbSNP
7g.117642456delCA2573141566CFTRc.3536del (p.Asn1179ThrfsTer?)
c.*3450del (n.*3450del)
c.3553del (p.Thr1185LeufsTer13)
c.3736del (p.Thr1246LeufsTer13)
c.*389del (n.*389del)
c.*397del (n.*397del)
c.*2111del (n.*2111del)
c.3730del (p.Thr1244LeufsTer13)
c.*3560del (n.*3560del)
c.3310del (p.Thr1104LeufsTer13)
c.484del (p.Thr162LeufsTer13)
c.1523del (n.1523del)
c.318del
c.1186del
c.3646del (p.Thr1216LeufsTer13)
c.3826del (p.Thr1276LeufsTer13)
c.3493del (p.Thr1165LeufsTer13)
 ClinVar dbSNP
7g.117642456A>CCA368974476CFTRc.3536A>C (p.Asn1179Thr)
c.*3450A>C (n.*3450A>C)
c.3553A>C (p.Thr1185Pro)
c.3736A>C (p.Thr1246Pro)
c.*389A>C (n.*389A>C)
c.*397A>C (n.*397A>C)
c.*2111A>C (n.*2111A>C)
c.3730A>C (p.Thr1244Pro)
c.*3560A>C (n.*3560A>C)
c.3310A>C (p.Thr1104Pro)
c.484A>C (p.Thr162Pro)
c.1523A>C (n.1523A>C)
c.318A>C
c.1186A>C
c.3646A>C (p.Thr1216Pro)
c.3826A>C (p.Thr1276Pro)
c.3493A>C (p.Thr1165Pro)
7g.117642456A>GCA368974477CFTRc.3536A>G (p.Asn1179Ser)
c.*3450A>G (n.*3450A>G)
c.3553A>G (p.Thr1185Ala)
c.3736A>G (p.Thr1246Ala)
c.*389A>G (n.*389A>G)
c.*397A>G (n.*397A>G)
c.*2111A>G (n.*2111A>G)
c.3730A>G (p.Thr1244Ala)
c.*3560A>G (n.*3560A>G)
c.3310A>G (p.Thr1104Ala)
c.484A>G (p.Thr162Ala)
c.1523A>G (n.1523A>G)
c.318A>G
c.1186A>G
c.3646A>G (p.Thr1216Ala)
c.3826A>G (p.Thr1276Ala)
c.3493A>G (p.Thr1165Ala)
7g.117642456A>TCA368974480CFTRc.3536A>T (p.Asn1179Ile)
c.*3450A>T (n.*3450A>T)
c.3553A>T (p.Thr1185Ser)
c.3736A>T (p.Thr1246Ser)
c.*389A>T (n.*389A>T)
c.*397A>T (n.*397A>T)
c.*2111A>T (n.*2111A>T)
c.3730A>T (p.Thr1244Ser)
c.*3560A>T (n.*3560A>T)
c.3310A>T (p.Thr1104Ser)
c.484A>T (p.Thr162Ser)
c.1523A>T (n.1523A>T)
c.318A>T
c.1186A>T
c.3646A>T (p.Thr1216Ser)
c.3826A>T (p.Thr1276Ser)
c.3493A>T (p.Thr1165Ser)
7g.117642457delCA2684620471CFTRc.3537del (p.Trp1180GlyfsTer?)
c.*3451del (n.*3451del)
c.3554del (p.Thr1185MetfsTer13)
c.3737del (p.Thr1246MetfsTer13)
c.*390del (n.*390del)
c.*398del (n.*398del)
c.*2112del (n.*2112del)
c.3731del (p.Thr1244MetfsTer13)
c.*3561del (n.*3561del)
c.3311del (p.Thr1104MetfsTer13)
c.485del (p.Thr162MetfsTer13)
c.1524del (n.1524del)
c.319del
c.1187del
c.3647del (p.Thr1216MetfsTer13)
c.3827del (p.Thr1276MetfsTer13)
c.3494del (p.Thr1165MetfsTer13)
 gnomAD v4
7g.117642457C>ACA368974482CFTRc.3537C>A (p.Asn1179Lys)
c.*3451C>A (n.*3451C>A)
c.3554C>A (p.Thr1185Asn)
c.3737C>A (p.Thr1246Asn)
c.*390C>A (n.*390C>A)
c.*398C>A (n.*398C>A)
c.*2112C>A (n.*2112C>A)
c.3731C>A (p.Thr1244Asn)
c.*3561C>A (n.*3561C>A)
c.3311C>A (p.Thr1104Asn)
c.485C>A (p.Thr162Asn)
c.1524C>A (n.1524C>A)
c.319C>A
c.1187C>A
c.3647C>A (p.Thr1216Asn)
c.3827C>A (p.Thr1276Asn)
c.3494C>A (p.Thr1165Asn)
7g.117642457C=CA1737404735CFTRc.3537C= (p.Asn1179=)
c.*3451C= (n.*3451C=)
c.3554C= (p.Thr1185=)
c.3737C= (p.Thr1246=)
c.*390C= (n.*390C=)
c.*398C= (n.*398C=)
c.*2112C= (n.*2112C=)
c.3731C= (p.Thr1244=)
c.*3561C= (n.*3561C=)
c.3311C= (p.Thr1104=)
c.485C= (p.Thr162=)
c.1524C= (n.1524C=)
c.319C=
c.1187C=
c.3647C= (p.Thr1216=)
c.3827C= (p.Thr1276=)
c.3494C= (p.Thr1165=)
7g.117642457C>GCA368974483CFTRc.3537C>G (p.Asn1179Lys)
c.*3451C>G (n.*3451C>G)
c.3554C>G (p.Thr1185Ser)
c.3737C>G (p.Thr1246Ser)
c.*390C>G (n.*390C>G)
c.*398C>G (n.*398C>G)
c.*2112C>G (n.*2112C>G)
c.3731C>G (p.Thr1244Ser)
c.*3561C>G (n.*3561C>G)
c.3311C>G (p.Thr1104Ser)
c.485C>G (p.Thr162Ser)
c.1524C>G (n.1524C>G)
c.319C>G
c.1187C>G
c.3647C>G (p.Thr1216Ser)
c.3827C>G (p.Thr1276Ser)
c.3494C>G (p.Thr1165Ser)
 dbSNP gnomAD v2 gnomAD v4
7g.117642457C>TCA327268CFTRc.3537C>T (p.Asn1179=)
c.*3451C>T (n.*3451C>T)
c.3554C>T (p.Thr1185Ile)
c.3737C>T (p.Thr1246Ile)
c.*390C>T (n.*390C>T)
c.*398C>T (n.*398C>T)
c.*2112C>T (n.*2112C>T)
c.3731C>T (p.Thr1244Ile)
c.*3561C>T (n.*3561C>T)
c.3311C>T (p.Thr1104Ile)
c.485C>T (p.Thr162Ile)
c.1524C>T (n.1524C>T)
c.319C>T
c.1187C>T
c.3647C>T (p.Thr1216Ile)
c.3827C>T (p.Thr1276Ile)
c.3494C>T (p.Thr1165Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642458T>ACA457228065CFTRc.3538T>A (p.Trp1180Arg)
c.*3452T>A (n.*3452T>A)
c.3555T>A (p.Thr1185=)
c.3738T>A (p.Thr1246=)
c.*391T>A (n.*391T>A)
c.*399T>A (n.*399T>A)
c.*2113T>A (n.*2113T>A)
c.3732T>A (p.Thr1244=)
c.*3562T>A (n.*3562T>A)
c.3312T>A (p.Thr1104=)
c.486T>A (p.Thr162=)
c.1525T>A (n.1525T>A)
c.320T>A
c.1188T>A
c.3648T>A (p.Thr1216=)
c.3828T>A (p.Thr1276=)
c.3495T>A (p.Thr1165=)
7g.117642458T>CCA457228066CFTRc.3538T>C (p.Trp1180Arg)
c.*3452T>C (n.*3452T>C)
c.3555T>C (p.Thr1185=)
c.3738T>C (p.Thr1246=)
c.*391T>C (n.*391T>C)
c.*399T>C (n.*399T>C)
c.*2113T>C (n.*2113T>C)
c.3732T>C (p.Thr1244=)
c.*3562T>C (n.*3562T>C)
c.3312T>C (p.Thr1104=)
c.486T>C (p.Thr162=)
c.1525T>C (n.1525T>C)
c.320T>C
c.1188T>C
c.3648T>C (p.Thr1216=)
c.3828T>C (p.Thr1276=)
c.3495T>C (p.Thr1165=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117642458T>GCA457228067CFTRc.3538T>G (p.Trp1180Gly)
c.*3452T>G (n.*3452T>G)
c.3555T>G (p.Thr1185=)
c.3738T>G (p.Thr1246=)
c.*391T>G (n.*391T>G)
c.*399T>G (n.*399T>G)
c.*2113T>G (n.*2113T>G)
c.3732T>G (p.Thr1244=)
c.*3562T>G (n.*3562T>G)
c.3312T>G (p.Thr1104=)
c.486T>G (p.Thr162=)
c.1525T>G (n.1525T>G)
c.320T>G
c.1188T>G
c.3648T>G (p.Thr1216=)
c.3828T>G (p.Thr1276=)
c.3495T>G (p.Thr1165=)
7g.117642458T=CA1737404736CFTRc.3538T= (p.Trp1180=)
c.*3452T= (n.*3452T=)
c.3555T= (p.Thr1185=)
c.3738T= (p.Thr1246=)
c.*391T= (n.*391T=)
c.*399T= (n.*399T=)
c.*2113T= (n.*2113T=)
c.3732T= (p.Thr1244=)
c.*3562T= (n.*3562T=)
c.3312T= (p.Thr1104=)
c.486T= (p.Thr162=)
c.1525T= (n.1525T=)
c.320T=
c.1188T=
c.3648T= (p.Thr1216=)
c.3828T= (p.Thr1276=)
c.3495T= (p.Thr1165=)
7g.117642459G>ACA368974490CFTRc.3539G>A (p.Trp1180Ter)
c.*3453G>A (n.*3453G>A)
c.3556G>A (p.Gly1186Arg)
c.3739G>A (p.Gly1247Arg)
c.*392G>A (n.*392G>A)
c.*400G>A (n.*400G>A)
c.*2114G>A (n.*2114G>A)
c.3733G>A (p.Gly1245Arg)
c.*3563G>A (n.*3563G>A)
c.3313G>A (p.Gly1105Arg)
c.487G>A (p.Gly163Arg)
c.1526G>A (n.1526G>A)
c.321G>A
c.1189G>A
c.3649G>A (p.Gly1217Arg)
c.3829G>A (p.Gly1277Arg)
c.3496G>A (p.Gly1166Arg)
 ClinVar dbSNP gnomAD v4
7g.117642459G>CCA327270CFTRc.3539G>C (p.Trp1180Ser)
c.*3453G>C (n.*3453G>C)
c.3556G>C (p.Gly1186Arg)
c.3739G>C (p.Gly1247Arg)
c.*392G>C (n.*392G>C)
c.*400G>C (n.*400G>C)
c.*2114G>C (n.*2114G>C)
c.3733G>C (p.Gly1245Arg)
c.*3563G>C (n.*3563G>C)
c.3313G>C (p.Gly1105Arg)
c.487G>C (p.Gly163Arg)
c.1526G>C (n.1526G>C)
c.321G>C
c.1189G>C
c.3649G>C (p.Gly1217Arg)
c.3829G>C (p.Gly1277Arg)
c.3496G>C (p.Gly1166Arg)
 dbSNP
7g.117642459G=CA1737404737CFTRc.3539G= (p.Trp1180=)
c.*3453G= (n.*3453G=)
c.3556G= (p.Gly1186=)
c.3739G= (p.Gly1247=)
c.*392G= (n.*392G=)
c.*400G= (n.*400G=)
c.*2114G= (n.*2114G=)
c.3733G= (p.Gly1245=)
c.*3563G= (n.*3563G=)
c.3313G= (p.Gly1105=)
c.487G= (p.Gly163=)
c.1526G= (n.1526G=)
c.321G=
c.1189G=
c.3649G= (p.Gly1217=)
c.3829G= (p.Gly1277=)
c.3496G= (p.Gly1166=)
7g.117642459G>TCA368974488CFTRc.3539G>T (p.Trp1180Leu)
c.*3453G>T (n.*3453G>T)
c.3556G>T (p.Gly1186Ter)
c.3739G>T (p.Gly1247Ter)
c.*392G>T (n.*392G>T)
c.*400G>T (n.*400G>T)
c.*2114G>T (n.*2114G>T)
c.3733G>T (p.Gly1245Ter)
c.*3563G>T (n.*3563G>T)
c.3313G>T (p.Gly1105Ter)
c.487G>T (p.Gly163Ter)
c.1526G>T (n.1526G>T)
c.321G>T
c.1189G>T
c.3649G>T (p.Gly1217Ter)
c.3829G>T (p.Gly1277Ter)
c.3496G>T (p.Gly1166Ter)
 ClinVar
7g.117642460G>ACA368974496CFTRc.3540G>A (p.Trp1180Ter)
c.*3454G>A (n.*3454G>A)
c.3557G>A (p.Gly1186Glu)
c.3740G>A (p.Gly1247Glu)
c.*393G>A (n.*393G>A)
c.*401G>A (n.*401G>A)
c.*2115G>A (n.*2115G>A)
c.3734G>A (p.Gly1245Glu)
c.*3564G>A (n.*3564G>A)
c.3314G>A (p.Gly1105Glu)
c.488G>A (p.Gly163Glu)
c.1527G>A (n.1527G>A)
c.322G>A
c.1190G>A
c.3650G>A (p.Gly1217Glu)
c.3830G>A (p.Gly1277Glu)
c.3497G>A (p.Gly1166Glu)
 ClinVar
7g.117642460G>CCA368974497CFTRc.3540G>C (p.Trp1180Cys)
c.*3454G>C (n.*3454G>C)
c.3557G>C (p.Gly1186Ala)
c.3740G>C (p.Gly1247Ala)
c.*393G>C (n.*393G>C)
c.*401G>C (n.*401G>C)
c.*2115G>C (n.*2115G>C)
c.3734G>C (p.Gly1245Ala)
c.*3564G>C (n.*3564G>C)
c.3314G>C (p.Gly1105Ala)
c.488G>C (p.Gly163Ala)
c.1527G>C (n.1527G>C)
c.322G>C
c.1190G>C
c.3650G>C (p.Gly1217Ala)
c.3830G>C (p.Gly1277Ala)
c.3497G>C (p.Gly1166Ala)
7g.117642460G>TCA368974499CFTRc.3540G>T (p.Trp1180Cys)
c.*3454G>T (n.*3454G>T)
c.3557G>T (p.Gly1186Val)
c.3740G>T (p.Gly1247Val)
c.*393G>T (n.*393G>T)
c.*401G>T (n.*401G>T)
c.*2115G>T (n.*2115G>T)
c.3734G>T (p.Gly1245Val)
c.*3564G>T (n.*3564G>T)
c.3314G>T (p.Gly1105Val)
c.488G>T (p.Gly163Val)
c.1527G>T (n.1527G>T)
c.322G>T
c.1190G>T
c.3650G>T (p.Gly1217Val)
c.3830G>T (p.Gly1277Val)
c.3497G>T (p.Gly1166Val)
 ClinVar
7g.117642461_117642465dupCA2573052808CFTRc.3541_3545dup (p.Glu1183SerfsTer?)
c.*3455_*3459dup (n.*3455_*3459dup)
c.3558_3562dup (p.Gly1188AspfsTer12)
c.3741_3745dup (p.Gly1249AspfsTer12)
c.*394_*398dup (n.*394_*398dup)
c.*402_*406dup (n.*402_*406dup)
c.*2116_*2120dup (n.*2116_*2120dup)
c.3735_3739dup (p.Gly1247AspfsTer12)
c.*3565_*3569dup (n.*3565_*3569dup)
c.3315_3319dup (p.Gly1107AspfsTer12)
c.489_493dup (p.Gly165AspfsTer12)
c.1528_1532dup (n.1528_1532dup)
c.323_327dup
c.1191_1195dup
c.3651_3655dup (p.Gly1219AspfsTer12)
c.3831_3835dup (p.Gly1279AspfsTer12)
c.3498_3502dup (p.Gly1168AspfsTer12)
 ClinVar dbSNP
7g.117642461A=CA1737404738CFTRc.3541A= (p.Ile1181=)
c.*3455A= (n.*3455A=)
c.3558A= (p.Gly1186=)
c.3741A= (p.Gly1247=)
c.*394A= (n.*394A=)
c.*402A= (n.*402A=)
c.*2116A= (n.*2116A=)
c.3735A= (p.Gly1245=)
c.*3565A= (n.*3565A=)
c.3315A= (p.Gly1105=)
c.489A= (p.Gly163=)
c.1528A= (n.1528A=)
c.323A=
c.1191A=
c.3651A= (p.Gly1217=)
c.3831A= (p.Gly1277=)
c.3498A= (p.Gly1166=)
7g.117642461A>CCA457228068CFTRc.3541A>C (p.Ile1181Leu)
c.*3455A>C (n.*3455A>C)
c.3558A>C (p.Gly1186=)
c.3741A>C (p.Gly1247=)
c.*394A>C (n.*394A>C)
c.*402A>C (n.*402A>C)
c.*2116A>C (n.*2116A>C)
c.3735A>C (p.Gly1245=)
c.*3565A>C (n.*3565A>C)
c.3315A>C (p.Gly1105=)
c.489A>C (p.Gly163=)
c.1528A>C (n.1528A>C)
c.323A>C
c.1191A>C
c.3651A>C (p.Gly1217=)
c.3831A>C (p.Gly1277=)
c.3498A>C (p.Gly1166=)
7g.117642461A>GCA457228069CFTRc.3541A>G (p.Ile1181Val)
c.*3455A>G (n.*3455A>G)
c.3558A>G (p.Gly1186=)
c.3741A>G (p.Gly1247=)
c.*394A>G (n.*394A>G)
c.*402A>G (n.*402A>G)
c.*2116A>G (n.*2116A>G)
c.3735A>G (p.Gly1245=)
c.*3565A>G (n.*3565A>G)
c.3315A>G (p.Gly1105=)
c.489A>G (p.Gly163=)
c.1528A>G (n.1528A>G)
c.323A>G
c.1191A>G
c.3651A>G (p.Gly1217=)
c.3831A>G (p.Gly1277=)
c.3498A>G (p.Gly1166=)
 ClinVar dbSNP gnomAD v4
7g.117642461A>TCA457228070CFTRc.3541A>T (p.Ile1181Phe)
c.*3455A>T (n.*3455A>T)
c.3558A>T (p.Gly1186=)
c.3741A>T (p.Gly1247=)
c.*394A>T (n.*394A>T)
c.*402A>T (n.*402A>T)
c.*2116A>T (n.*2116A>T)
c.3735A>T (p.Gly1245=)
c.*3565A>T (n.*3565A>T)
c.3315A>T (p.Gly1105=)
c.489A>T (p.Gly163=)
c.1528A>T (n.1528A>T)
c.323A>T
c.1191A>T
c.3651A>T (p.Gly1217=)
c.3831A>T (p.Gly1277=)
c.3498A>T (p.Gly1166=)
 ClinVar dbSNP
7g.117642461_117642462insATCAGCA915945447CFTRc.3541_3542insATCAG (p.Ile1181AsnfsTer?)
c.*3455_*3456insATCAG (n.*3455_*3456insATCAG)
c.3558_3559insATCAG (p.Ser1187IlefsTer13)
c.3741_3742insATCAG (p.Ser1248IlefsTer13)
c.*394_*395insATCAG (n.*394_*395insATCAG)
c.*402_*403insATCAG (n.*402_*403insATCAG)
c.*2116_*2117insATCAG (n.*2116_*2117insATCAG)
c.3735_3736insATCAG (p.Ser1246IlefsTer13)
c.*3565_*3566insATCAG (n.*3565_*3566insATCAG)
c.3315_3316insATCAG (p.Ser1106IlefsTer13)
c.489_490insATCAG (p.Ser164IlefsTer13)
c.1528_1529insATCAG (n.1528_1529insATCAG)
c.323_324insATCAG
c.1191_1192insATCAG
c.3651_3652insATCAG (p.Ser1218IlefsTer13)
c.3831_3832insATCAG (p.Ser1278IlefsTer13)
c.3498_3499insATCAG (p.Ser1167IlefsTer13)
7g.117642462T>ACA368974502CFTRc.3542T>A (p.Ile1181Asn)
c.*3456T>A (n.*3456T>A)
c.3559T>A (p.Ser1187Thr)
c.3742T>A (p.Ser1248Thr)
c.*395T>A (n.*395T>A)
c.*403T>A (n.*403T>A)
c.*2117T>A (n.*2117T>A)
c.3736T>A (p.Ser1246Thr)
c.*3566T>A (n.*3566T>A)
c.3316T>A (p.Ser1106Thr)
c.490T>A (p.Ser164Thr)
c.1529T>A (n.1529T>A)
c.324T>A
c.1192T>A
c.3652T>A (p.Ser1218Thr)
c.3832T>A (p.Ser1278Thr)
c.3499T>A (p.Ser1167Thr)
7g.117642462T>CCA368974504CFTRc.3542T>C (p.Ile1181Thr)
c.*3456T>C (n.*3456T>C)
c.3559T>C (p.Ser1187Pro)
c.3742T>C (p.Ser1248Pro)
c.*395T>C (n.*395T>C)
c.*403T>C (n.*403T>C)
c.*2117T>C (n.*2117T>C)
c.3736T>C (p.Ser1246Pro)
c.*3566T>C (n.*3566T>C)
c.3316T>C (p.Ser1106Pro)
c.490T>C (p.Ser164Pro)
c.1529T>C (n.1529T>C)
c.324T>C
c.1192T>C
c.3652T>C (p.Ser1218Pro)
c.3832T>C (p.Ser1278Pro)
c.3499T>C (p.Ser1167Pro)
 dbSNP
7g.117642462T>GCA368974507CFTRc.3542T>G (p.Ile1181Ser)
c.*3456T>G (n.*3456T>G)
c.3559T>G (p.Ser1187Ala)
c.3742T>G (p.Ser1248Ala)
c.*395T>G (n.*395T>G)
c.*403T>G (n.*403T>G)
c.*2117T>G (n.*2117T>G)
c.3736T>G (p.Ser1246Ala)
c.*3566T>G (n.*3566T>G)
c.3316T>G (p.Ser1106Ala)
c.490T>G (p.Ser164Ala)
c.1529T>G (n.1529T>G)
c.324T>G
c.1192T>G
c.3652T>G (p.Ser1218Ala)
c.3832T>G (p.Ser1278Ala)
c.3499T>G (p.Ser1167Ala)
7g.117642463C>ACA368974509CFTRc.3543C>A (p.Ile1181=)
c.*3457C>A (n.*3457C>A)
c.3560C>A (p.Ser1187Ter)
c.3743C>A (p.Ser1248Ter)
c.*396C>A (n.*396C>A)
c.*404C>A (n.*404C>A)
c.*2118C>A (n.*2118C>A)
c.3737C>A (p.Ser1246Ter)
c.*3567C>A (n.*3567C>A)
c.3317C>A (p.Ser1106Ter)
c.491C>A (p.Ser164Ter)
c.1530C>A (n.1530C>A)
c.325C>A
c.1193C>A
c.3653C>A (p.Ser1218Ter)
c.3833C>A (p.Ser1278Ter)
c.3500C>A (p.Ser1167Ter)
 COSMIC
7g.117642463C=CA1737404740CFTRc.3543C= (p.Ile1181=)
c.*3457C= (n.*3457C=)
c.3560C= (p.Ser1187=)
c.3743C= (p.Ser1248=)
c.*396C= (n.*396C=)
c.*404C= (n.*404C=)
c.*2118C= (n.*2118C=)
c.3737C= (p.Ser1246=)
c.*3567C= (n.*3567C=)
c.3317C= (p.Ser1106=)
c.491C= (p.Ser164=)
c.1530C= (n.1530C=)
c.325C=
c.1193C=
c.3653C= (p.Ser1218=)
c.3833C= (p.Ser1278=)
c.3500C= (p.Ser1167=)
7g.117642463C>GCA368974511CFTRc.3543C>G (p.Ile1181Met)
c.*3457C>G (n.*3457C>G)
c.3560C>G (p.Ser1187Ter)
c.3743C>G (p.Ser1248Ter)
c.*396C>G (n.*396C>G)
c.*404C>G (n.*404C>G)
c.*2118C>G (n.*2118C>G)
c.3737C>G (p.Ser1246Ter)
c.*3567C>G (n.*3567C>G)
c.3317C>G (p.Ser1106Ter)
c.491C>G (p.Ser164Ter)
c.1530C>G (n.1530C>G)
c.325C>G
c.1193C>G
c.3653C>G (p.Ser1218Ter)
c.3833C>G (p.Ser1278Ter)
c.3500C>G (p.Ser1167Ter)
 ClinVar dbSNP gnomAD v4
7g.117642463C>TCA164947490CFTRc.3543C>T (p.Ile1181=)
c.*3457C>T (n.*3457C>T)
c.3560C>T (p.Ser1187Leu)
c.3743C>T (p.Ser1248Leu)
c.*396C>T (n.*396C>T)
c.*404C>T (n.*404C>T)
c.*2118C>T (n.*2118C>T)
c.3737C>T (p.Ser1246Leu)
c.*3567C>T (n.*3567C>T)
c.3317C>T (p.Ser1106Leu)
c.491C>T (p.Ser164Leu)
c.1530C>T (n.1530C>T)
c.325C>T
c.1193C>T
c.3653C>T (p.Ser1218Leu)
c.3833C>T (p.Ser1278Leu)
c.3500C>T (p.Ser1167Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.117642463_117642464delinsCACA1737404739CFTRc.3543_3544delinsCA (p.Ile1181=)
c.*3457_*3458delinsCA (n.*3457_*3458delinsCA)
c.3560_3561delinsCA (p.Ser1187=)
c.3743_3744delinsCA (p.Ser1248=)
c.*396_*397delinsCA (n.*396_*397delinsCA)
c.*404_*405delinsCA (n.*404_*405delinsCA)
c.*2118_*2119delinsCA (n.*2118_*2119delinsCA)
c.3737_3738delinsCA (p.Ser1246=)
c.*3567_*3568delinsCA (n.*3567_*3568delinsCA)
c.3317_3318delinsCA (p.Ser1106=)
c.491_492delinsCA (p.Ser164=)
c.1530_1531delinsCA (n.1530_1531delinsCA)
c.325_326delinsCA
c.1193_1194delinsCA
c.3653_3654delinsCA (p.Ser1218=)
c.3833_3834delinsCA (p.Ser1278=)
c.3500_3501delinsCA (p.Ser1167=)
7g.117642464delCA325611CFTRc.3544del (p.Arg1182GlyfsTer?)
c.*3458del (n.*3458del)
c.3561del (p.Lys1189ArgfsTer9)
c.3744del (p.Lys1250ArgfsTer9)
c.*397del (n.*397del)
c.*405del (n.*405del)
c.*2119del (n.*2119del)
c.3738del (p.Lys1248ArgfsTer9)
c.*3568del (n.*3568del)
c.3318del (p.Lys1108ArgfsTer9)
c.492del (p.Lys166ArgfsTer9)
c.1531del (n.1531del)
c.326del
c.1194del
c.3654del (p.Lys1220ArgfsTer9)
c.3834del (p.Lys1280ArgfsTer9)
c.3501del (p.Lys1169ArgfsTer9)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117642464A=CA1737404741CFTRc.3544A= (p.Arg1182=)
c.*3458A= (n.*3458A=)
c.3561A= (p.Ser1187=)
c.3744A= (p.Ser1248=)
c.*397A= (n.*397A=)
c.*405A= (n.*405A=)
c.*2119A= (n.*2119A=)
c.3738A= (p.Ser1246=)
c.*3568A= (n.*3568A=)
c.3318A= (p.Ser1106=)
c.492A= (p.Ser164=)
c.1531A= (n.1531A=)
c.326A=
c.1194A=
c.3654A= (p.Ser1218=)
c.3834A= (p.Ser1278=)
c.3501A= (p.Ser1167=)
7g.117642464A>CCA457228071CFTRc.3544A>C (p.Arg1182=)
c.*3458A>C (n.*3458A>C)
c.3561A>C (p.Ser1187=)
c.3744A>C (p.Ser1248=)
c.*397A>C (n.*397A>C)
c.*405A>C (n.*405A>C)
c.*2119A>C (n.*2119A>C)
c.3738A>C (p.Ser1246=)
c.*3568A>C (n.*3568A>C)
c.3318A>C (p.Ser1106=)
c.492A>C (p.Ser164=)
c.1531A>C (n.1531A>C)
c.326A>C
c.1194A>C
c.3654A>C (p.Ser1218=)
c.3834A>C (p.Ser1278=)
c.3501A>C (p.Ser1167=)
 dbSNP gnomAD v4
7g.117642464A>GCA457228072CFTRc.3544A>G (p.Arg1182Gly)
c.*3458A>G (n.*3458A>G)
c.3561A>G (p.Ser1187=)
c.3744A>G (p.Ser1248=)
c.*397A>G (n.*397A>G)
c.*405A>G (n.*405A>G)
c.*2119A>G (n.*2119A>G)
c.3738A>G (p.Ser1246=)
c.*3568A>G (n.*3568A>G)
c.3318A>G (p.Ser1106=)
c.492A>G (p.Ser164=)
c.1531A>G (n.1531A>G)
c.326A>G
c.1194A>G
c.3654A>G (p.Ser1218=)
c.3834A>G (p.Ser1278=)
c.3501A>G (p.Ser1167=)
 ClinVar gnomAD v4
7g.117642464A>TCA164947494CFTRc.3544A>T (p.Arg1182Trp)
c.*3458A>T (n.*3458A>T)
c.3561A>T (p.Ser1187=)
c.3744A>T (p.Ser1248=)
c.*397A>T (n.*397A>T)
c.*405A>T (n.*405A>T)
c.*2119A>T (n.*2119A>T)
c.3738A>T (p.Ser1246=)
c.*3568A>T (n.*3568A>T)
c.3318A>T (p.Ser1106=)
c.492A>T (p.Ser164=)
c.1531A>T (n.1531A>T)
c.326A>T
c.1194A>T
c.3654A>T (p.Ser1218=)
c.3834A>T (p.Ser1278=)
c.3501A>T (p.Ser1167=)
 dbSNP gnomAD v2 gnomAD v4
7g.117642464_117642465delinsAGCA1737404742CFTRc.3544_3545delinsAG (p.Arg1182=)
c.*3458_*3459delinsAG (n.*3458_*3459delinsAG)
c.3561_3562delinsAG (p.Ser1187=)
c.3744_3745delinsAG (p.Ser1248=)
c.*397_*398delinsAG (n.*397_*398delinsAG)
c.*405_*406delinsAG (n.*405_*406delinsAG)
c.*2119_*2120delinsAG (n.*2119_*2120delinsAG)
c.3738_3739delinsAG (p.Ser1246=)
c.*3568_*3569delinsAG (n.*3568_*3569delinsAG)
c.3318_3319delinsAG (p.Ser1106=)
c.492_493delinsAG (p.Ser164=)
c.1531_1532delinsAG (n.1531_1532delinsAG)
c.326_327delinsAG
c.1194_1195delinsAG
c.3654_3655delinsAG (p.Ser1218=)
c.3834_3835delinsAG (p.Ser1278=)
c.3501_3502delinsAG (p.Ser1167=)
7g.117642465G>ACA327272CFTRc.3545G>A (p.Arg1182Lys)
c.*3459G>A (n.*3459G>A)
c.3562G>A (p.Gly1188Arg)
c.3745G>A (p.Gly1249Arg)
c.*398G>A (n.*398G>A)
c.*406G>A (n.*406G>A)
c.*2120G>A (n.*2120G>A)
c.3739G>A (p.Gly1247Arg)
c.*3569G>A (n.*3569G>A)
c.3319G>A (p.Gly1107Arg)
c.493G>A (p.Gly165Arg)
c.1532G>A (n.1532G>A)
c.327G>A
c.1195G>A
c.3655G>A (p.Gly1219Arg)
c.3835G>A (p.Gly1279Arg)
c.3502G>A (p.Gly1168Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117642465G>CCA368974518CFTRc.3545G>C (p.Arg1182Thr)
c.*3459G>C (n.*3459G>C)
c.3562G>C (p.Gly1188Arg)
c.3745G>C (p.Gly1249Arg)
c.*398G>C (n.*398G>C)
c.*406G>C (n.*406G>C)
c.*2120G>C (n.*2120G>C)
c.3739G>C (p.Gly1247Arg)
c.*3569G>C (n.*3569G>C)
c.3319G>C (p.Gly1107Arg)
c.493G>C (p.Gly165Arg)
c.1532G>C (n.1532G>C)
c.327G>C
c.1195G>C
c.3655G>C (p.Gly1219Arg)
c.3835G>C (p.Gly1279Arg)
c.3502G>C (p.Gly1168Arg)
 ClinVar dbSNP
7g.117642465G=CA1737404743CFTRc.3545G= (p.Arg1182=)
c.*3459G= (n.*3459G=)
c.3562G= (p.Gly1188=)
c.3745G= (p.Gly1249=)
c.*398G= (n.*398G=)
c.*406G= (n.*406G=)
c.*2120G= (n.*2120G=)
c.3739G= (p.Gly1247=)
c.*3569G= (n.*3569G=)
c.3319G= (p.Gly1107=)
c.493G= (p.Gly165=)
c.1532G= (n.1532G=)
c.327G=
c.1195G=
c.3655G= (p.Gly1219=)
c.3835G= (p.Gly1279=)
c.3502G= (p.Gly1168=)
7g.117642465G>TCA368974520CFTRc.3545G>T (p.Arg1182Met)
c.*3459G>T (n.*3459G>T)
c.3562G>T (p.Gly1188Trp)
c.3745G>T (p.Gly1249Trp)
c.*398G>T (n.*398G>T)
c.*406G>T (n.*406G>T)
c.*2120G>T (n.*2120G>T)
c.3739G>T (p.Gly1247Trp)
c.*3569G>T (n.*3569G>T)
c.3319G>T (p.Gly1107Trp)
c.493G>T (p.Gly165Trp)
c.1532G>T (n.1532G>T)
c.327G>T
c.1195G>T
c.3655G>T (p.Gly1219Trp)
c.3835G>T (p.Gly1279Trp)
c.3502G>T (p.Gly1168Trp)
7g.117642467delCA276111CFTRc.3547del (p.Glu1183LysfsTer?)
c.*3461del (n.*3461del)
c.3564del (p.Lys1189ArgfsTer9)
c.3747del (p.Lys1250ArgfsTer9)
c.*400del (n.*400del)
c.*408del (n.*408del)
c.*2122del (n.*2122del)
c.3741del (p.Lys1248ArgfsTer9)
c.*3571del (n.*3571del)
c.3321del (p.Lys1108ArgfsTer9)
c.495del (p.Lys166ArgfsTer9)
c.1534del (n.1534del)
c.329del
c.1197del
c.3657del (p.Lys1220ArgfsTer9)
c.3837del (p.Lys1280ArgfsTer9)
c.3504del (p.Lys1169ArgfsTer9)
 ClinVar dbSNP gnomAD v4
7g.117642466G>ACA325602CFTRc.3546G>A (p.Arg1182=)
c.*3460G>A (n.*3460G>A)
c.3563G>A (p.Gly1188Glu)
c.3746G>A (p.Gly1249Glu)
c.*399G>A (n.*399G>A)
c.*407G>A (n.*407G>A)
c.*2121G>A (n.*2121G>A)
c.3740G>A (p.Gly1247Glu)
c.*3570G>A (n.*3570G>A)
c.3320G>A (p.Gly1107Glu)
c.494G>A (p.Gly165Glu)
c.1533G>A (n.1533G>A)
c.328G>A
c.1196G>A
c.3656G>A (p.Gly1219Glu)
c.3836G>A (p.Gly1279Glu)
c.3503G>A (p.Gly1168Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117642466G>CCA368974523CFTRc.3546G>C (p.Arg1182Ser)
c.*3460G>C (n.*3460G>C)
c.3563G>C (p.Gly1188Ala)
c.3746G>C (p.Gly1249Ala)
c.*399G>C (n.*399G>C)
c.*407G>C (n.*407G>C)
c.*2121G>C (n.*2121G>C)
c.3740G>C (p.Gly1247Ala)
c.*3570G>C (n.*3570G>C)
c.3320G>C (p.Gly1107Ala)
c.494G>C (p.Gly165Ala)
c.1533G>C (n.1533G>C)
c.328G>C
c.1196G>C
c.3656G>C (p.Gly1219Ala)
c.3836G>C (p.Gly1279Ala)
c.3503G>C (p.Gly1168Ala)
7g.117642466G=CA1737404744CFTRc.3546G= (p.Arg1182=)
c.*3460G= (n.*3460G=)
c.3563G= (p.Gly1188=)
c.3746G= (p.Gly1249=)
c.*399G= (n.*399G=)
c.*407G= (n.*407G=)
c.*2121G= (n.*2121G=)
c.3740G= (p.Gly1247=)
c.*3570G= (n.*3570G=)
c.3320G= (p.Gly1107=)
c.494G= (p.Gly165=)
c.1533G= (n.1533G=)
c.328G=
c.1196G=
c.3656G= (p.Gly1219=)
c.3836G= (p.Gly1279=)
c.3503G= (p.Gly1168=)
7g.117642466G>TCA368974525CFTRc.3546G>T (p.Arg1182Ser)
c.*3460G>T (n.*3460G>T)
c.3563G>T (p.Gly1188Val)
c.3746G>T (p.Gly1249Val)
c.*399G>T (n.*399G>T)
c.*407G>T (n.*407G>T)
c.*2121G>T (n.*2121G>T)
c.3740G>T (p.Gly1247Val)
c.*3570G>T (n.*3570G>T)
c.3320G>T (p.Gly1107Val)
c.494G>T (p.Gly165Val)
c.1533G>T (n.1533G>T)
c.328G>T
c.1196G>T
c.3656G>T (p.Gly1219Val)
c.3836G>T (p.Gly1279Val)
c.3503G>T (p.Gly1168Val)
7g.117642467G>ACA242296CFTRc.3547G>A (p.Glu1183Lys)
c.*3461G>A (n.*3461G>A)
c.3564G>A (p.Gly1188=)
c.3747G>A (p.Gly1249=)
c.*400G>A (n.*400G>A)
c.*408G>A (n.*408G>A)
c.*2122G>A (n.*2122G>A)
c.3741G>A (p.Gly1247=)
c.*3571G>A (n.*3571G>A)
c.3321G>A (p.Gly1107=)
c.495G>A (p.Gly165=)
c.1534G>A (n.1534G>A)
c.329G>A
c.1197G>A
c.3657G>A (p.Gly1219=)
c.3837G>A (p.Gly1279=)
c.3504G>A (p.Gly1168=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117642467G>CCA457228074CFTRc.3547G>C (p.Glu1183Gln)
c.*3461G>C (n.*3461G>C)
c.3564G>C (p.Gly1188=)
c.3747G>C (p.Gly1249=)
c.*400G>C (n.*400G>C)
c.*408G>C (n.*408G>C)
c.*2122G>C (n.*2122G>C)
c.3741G>C (p.Gly1247=)
c.*3571G>C (n.*3571G>C)
c.3321G>C (p.Gly1107=)
c.495G>C (p.Gly165=)
c.1534G>C (n.1534G>C)
c.329G>C
c.1197G>C
c.3657G>C (p.Gly1219=)
c.3837G>C (p.Gly1279=)
c.3504G>C (p.Gly1168=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117642467G=CA1737404745CFTRc.3547G= (p.Glu1183=)
c.*3461G= (n.*3461G=)
c.3564G= (p.Gly1188=)
c.3747G= (p.Gly1249=)
c.*400G= (n.*400G=)
c.*408G= (n.*408G=)
c.*2122G= (n.*2122G=)
c.3741G= (p.Gly1247=)
c.*3571G= (n.*3571G=)
c.3321G= (p.Gly1107=)
c.495G= (p.Gly165=)
c.1534G= (n.1534G=)
c.329G=
c.1197G=
c.3657G= (p.Gly1219=)
c.3837G= (p.Gly1279=)
c.3504G= (p.Gly1168=)
7g.117642467G>TCA457228073CFTRc.3547G>T (p.Glu1183Ter)
c.*3461G>T (n.*3461G>T)
c.3564G>T (p.Gly1188=)
c.3747G>T (p.Gly1249=)
c.*400G>T (n.*400G>T)
c.*408G>T (n.*408G>T)
c.*2122G>T (n.*2122G>T)
c.3741G>T (p.Gly1247=)
c.*3571G>T (n.*3571G>T)
c.3321G>T (p.Gly1107=)
c.495G>T (p.Gly165=)
c.1534G>T (n.1534G>T)
c.329G>T
c.1197G>T
c.3657G>T (p.Gly1219=)
c.3837G>T (p.Gly1279=)
c.3504G>T (p.Gly1168=)
7g.117642469_117642471dupCA915945448CFTRc.3549_3551dup (p.Glu1184_Tyr1185insGlu)
c.*3463_*3465dup (n.*3463_*3465dup)
c.3566_3568dup (p.Lys1189_Ser1190insLys)
c.3749_3751dup (p.Lys1250_Ser1251insLys)
c.*402_*404dup (n.*402_*404dup)
c.*410_*412dup (n.*410_*412dup)
c.*2124_*2126dup (n.*2124_*2126dup)
c.3743_3745dup (p.Lys1248_Ser1249insLys)
c.*3573_*3575dup (n.*3573_*3575dup)
c.3323_3325dup (p.Lys1108_Ser1109insLys)
c.497_499dup (p.Lys166_Ser167insLys)
c.1536_1538dup (n.1536_1538dup)
c.331_333dup
c.1199_1201dup
c.3659_3661dup (p.Lys1220_Ser1221insLys)
c.3839_3841dup (p.Lys1280_Ser1281insLys)
c.3506_3508dup (p.Lys1169_Ser1170insLys)
 ClinVar dbSNP
7g.117642468A>CCA368974530CFTRc.3548A>C (p.Glu1183Ala)
c.*3462A>C (n.*3462A>C)
c.3565A>C (p.Lys1189Gln)
c.3748A>C (p.Lys1250Gln)
c.*401A>C (n.*401A>C)
c.*409A>C (n.*409A>C)
c.*2123A>C (n.*2123A>C)
c.3742A>C (p.Lys1248Gln)
c.*3572A>C (n.*3572A>C)
c.3322A>C (p.Lys1108Gln)
c.496A>C (p.Lys166Gln)
c.1535A>C (n.1535A>C)
c.330A>C
c.1198A>C
c.3658A>C (p.Lys1220Gln)
c.3838A>C (p.Lys1280Gln)
c.3505A>C (p.Lys1169Gln)
7g.117642468A>GCA368974532CFTRc.3548A>G (p.Glu1183Gly)
c.*3462A>G (n.*3462A>G)
c.3565A>G (p.Lys1189Glu)
c.3748A>G (p.Lys1250Glu)
c.*401A>G (n.*401A>G)
c.*409A>G (n.*409A>G)
c.*2123A>G (n.*2123A>G)
c.3742A>G (p.Lys1248Glu)
c.*3572A>G (n.*3572A>G)
c.3322A>G (p.Lys1108Glu)
c.496A>G (p.Lys166Glu)
c.1535A>G (n.1535A>G)
c.330A>G
c.1198A>G
c.3658A>G (p.Lys1220Glu)
c.3838A>G (p.Lys1280Glu)
c.3505A>G (p.Lys1169Glu)
7g.117642468A>TCA368974533CFTRc.3548A>T (p.Glu1183Val)
c.*3462A>T (n.*3462A>T)
c.3565A>T (p.Lys1189Ter)
c.3748A>T (p.Lys1250Ter)
c.*401A>T (n.*401A>T)
c.*409A>T (n.*409A>T)
c.*2123A>T (n.*2123A>T)
c.3742A>T (p.Lys1248Ter)
c.*3572A>T (n.*3572A>T)
c.3322A>T (p.Lys1108Ter)
c.496A>T (p.Lys166Ter)
c.1535A>T (n.1535A>T)
c.330A>T
c.1198A>T
c.3658A>T (p.Lys1220Ter)
c.3838A>T (p.Lys1280Ter)
c.3505A>T (p.Lys1169Ter)
7g.117642469A>CCA368974535CFTRc.3549A>C (p.Glu1183Asp)
c.*3463A>C (n.*3463A>C)
c.3566A>C (p.Lys1189Thr)
c.3749A>C (p.Lys1250Thr)
c.*402A>C (n.*402A>C)
c.*410A>C (n.*410A>C)
c.*2124A>C (n.*2124A>C)
c.3743A>C (p.Lys1248Thr)
c.*3573A>C (n.*3573A>C)
c.3323A>C (p.Lys1108Thr)
c.497A>C (p.Lys166Thr)
c.1536A>C (n.1536A>C)
c.331A>C
c.1199A>C
c.3659A>C (p.Lys1220Thr)
c.3839A>C (p.Lys1280Thr)
c.3506A>C (p.Lys1169Thr)
7g.117642469A>GCA368974537CFTRc.3549A>G (p.Glu1183=)
c.*3463A>G (n.*3463A>G)
c.3566A>G (p.Lys1189Arg)
c.3749A>G (p.Lys1250Arg)
c.*402A>G (n.*402A>G)
c.*410A>G (n.*410A>G)
c.*2124A>G (n.*2124A>G)
c.3743A>G (p.Lys1248Arg)
c.*3573A>G (n.*3573A>G)
c.3323A>G (p.Lys1108Arg)
c.497A>G (p.Lys166Arg)
c.1536A>G (n.1536A>G)
c.331A>G
c.1199A>G
c.3659A>G (p.Lys1220Arg)
c.3839A>G (p.Lys1280Arg)
c.3506A>G (p.Lys1169Arg)
7g.117642469A>TCA368974539CFTRc.3549A>T (p.Glu1183Asp)
c.*3463A>T (n.*3463A>T)
c.3566A>T (p.Lys1189Met)
c.3749A>T (p.Lys1250Met)
c.*402A>T (n.*402A>T)
c.*410A>T (n.*410A>T)
c.*2124A>T (n.*2124A>T)
c.3743A>T (p.Lys1248Met)
c.*3573A>T (n.*3573A>T)
c.3323A>T (p.Lys1108Met)
c.497A>T (p.Lys166Met)
c.1536A>T (n.1536A>T)
c.331A>T
c.1199A>T
c.3659A>T (p.Lys1220Met)
c.3839A>T (p.Lys1280Met)
c.3506A>T (p.Lys1169Met)
7g.117642470G>ACA457228075CFTRc.3550G>A (p.Glu1184Lys)
c.*3464G>A (n.*3464G>A)
c.3567G>A (p.Lys1189=)
c.3750G>A (p.Lys1250=)
c.*403G>A (n.*403G>A)
c.*411G>A (n.*411G>A)
c.*2125G>A (n.*2125G>A)
c.3744G>A (p.Lys1248=)
c.*3574G>A (n.*3574G>A)
c.3324G>A (p.Lys1108=)
c.498G>A (p.Lys166=)
c.1537G>A (n.1537G>A)
c.332G>A
c.1200G>A
c.3660G>A (p.Lys1220=)
c.3840G>A (p.Lys1280=)
c.3507G>A (p.Lys1169=)
7g.117642470G>CCA368974541CFTRc.3550G>C (p.Glu1184Gln)
c.*3464G>C (n.*3464G>C)
c.3567G>C (p.Lys1189Asn)
c.3750G>C (p.Lys1250Asn)
c.*403G>C (n.*403G>C)
c.*411G>C (n.*411G>C)
c.*2125G>C (n.*2125G>C)
c.3744G>C (p.Lys1248Asn)
c.*3574G>C (n.*3574G>C)
c.3324G>C (p.Lys1108Asn)
c.498G>C (p.Lys166Asn)
c.1537G>C (n.1537G>C)
c.332G>C
c.1200G>C
c.3660G>C (p.Lys1220Asn)
c.3840G>C (p.Lys1280Asn)
c.3507G>C (p.Lys1169Asn)
7g.117642470G>TCA368974543CFTRc.3550G>T (p.Glu1184Ter)
c.*3464G>T (n.*3464G>T)
c.3567G>T (p.Lys1189Asn)
c.3750G>T (p.Lys1250Asn)
c.*403G>T (n.*403G>T)
c.*411G>T (n.*411G>T)
c.*2125G>T (n.*2125G>T)
c.3744G>T (p.Lys1248Asn)
c.*3574G>T (n.*3574G>T)
c.3324G>T (p.Lys1108Asn)
c.498G>T (p.Lys166Asn)
c.1537G>T (n.1537G>T)
c.332G>T
c.1200G>T
c.3660G>T (p.Lys1220Asn)
c.3840G>T (p.Lys1280Asn)
c.3507G>T (p.Lys1169Asn)
7g.117642471A>CCA368974546CFTRc.3551A>C (p.Glu1184Ala)
c.*3465A>C (n.*3465A>C)
c.3568A>C (p.Ser1190Arg)
c.3751A>C (p.Ser1251Arg)
c.*404A>C (n.*404A>C)
c.*412A>C (n.*412A>C)
c.*2126A>C (n.*2126A>C)
c.3745A>C (p.Ser1249Arg)
c.*3575A>C (n.*3575A>C)
c.3325A>C (p.Ser1109Arg)
c.499A>C (p.Ser167Arg)
c.1538A>C (n.1538A>C)
c.333A>C
c.1201A>C
c.3661A>C (p.Ser1221Arg)
c.3841A>C (p.Ser1281Arg)
c.3508A>C (p.Ser1170Arg)
7g.117642471A>GCA368974548CFTRc.3551A>G (p.Glu1184Gly)
c.*3465A>G (n.*3465A>G)
c.3568A>G (p.Ser1190Gly)
c.3751A>G (p.Ser1251Gly)
c.*404A>G (n.*404A>G)
c.*412A>G (n.*412A>G)
c.*2126A>G (n.*2126A>G)
c.3745A>G (p.Ser1249Gly)
c.*3575A>G (n.*3575A>G)
c.3325A>G (p.Ser1109Gly)
c.499A>G (p.Ser167Gly)
c.1538A>G (n.1538A>G)
c.333A>G
c.1201A>G
c.3661A>G (p.Ser1221Gly)
c.3841A>G (p.Ser1281Gly)
c.3508A>G (p.Ser1170Gly)
 gnomAD v4
7g.117642471A>TCA368974551CFTRc.3551A>T (p.Glu1184Val)
c.*3465A>T (n.*3465A>T)
c.3568A>T (p.Ser1190Cys)
c.3751A>T (p.Ser1251Cys)
c.*404A>T (n.*404A>T)
c.*412A>T (n.*412A>T)
c.*2126A>T (n.*2126A>T)
c.3745A>T (p.Ser1249Cys)
c.*3575A>T (n.*3575A>T)
c.3325A>T (p.Ser1109Cys)
c.499A>T (p.Ser167Cys)
c.1538A>T (n.1538A>T)
c.333A>T
c.1201A>T
c.3661A>T (p.Ser1221Cys)
c.3841A>T (p.Ser1281Cys)
c.3508A>T (p.Ser1170Cys)
7g.117642472G>ACA325603CFTRc.3552G>A (p.Glu1184=)
c.*3466G>A (n.*3466G>A)
c.3569G>A (p.Ser1190Asn)
c.3752G>A (p.Ser1251Asn)
c.*405G>A (n.*405G>A)
c.*413G>A (n.*413G>A)
c.*2127G>A (n.*2127G>A)
c.3746G>A (p.Ser1249Asn)
c.*3576G>A (n.*3576G>A)
c.3326G>A (p.Ser1109Asn)
c.500G>A (p.Ser167Asn)
c.1539G>A (n.1539G>A)
c.334G>A
c.1202G>A
c.3662G>A (p.Ser1221Asn)
c.3842G>A (p.Ser1281Asn)
c.3509G>A (p.Ser1170Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642472G>CCA368974569CFTRc.3552G>C (p.Glu1184Asp)
c.*3466G>C (n.*3466G>C)
c.3569G>C (p.Ser1190Thr)
c.3752G>C (p.Ser1251Thr)
c.*405G>C (n.*405G>C)
c.*413G>C (n.*413G>C)
c.*2127G>C (n.*2127G>C)
c.3746G>C (p.Ser1249Thr)
c.*3576G>C (n.*3576G>C)
c.3326G>C (p.Ser1109Thr)
c.500G>C (p.Ser167Thr)
c.1539G>C (n.1539G>C)
c.334G>C
c.1202G>C
c.3662G>C (p.Ser1221Thr)
c.3842G>C (p.Ser1281Thr)
c.3509G>C (p.Ser1170Thr)
 ClinVar
7g.117642472G=CA1737404746CFTRc.3552G= (p.Glu1184=)
c.*3466G= (n.*3466G=)
c.3569G= (p.Ser1190=)
c.3752G= (p.Ser1251=)
c.*405G= (n.*405G=)
c.*413G= (n.*413G=)
c.*2127G= (n.*2127G=)
c.3746G= (p.Ser1249=)
c.*3576G= (n.*3576G=)
c.3326G= (p.Ser1109=)
c.500G= (p.Ser167=)
c.1539G= (n.1539G=)
c.334G=
c.1202G=
c.3662G= (p.Ser1221=)
c.3842G= (p.Ser1281=)
c.3509G= (p.Ser1170=)
7g.117642472G>TCA368974557CFTRc.3552G>T (p.Glu1184Asp)
c.*3466G>T (n.*3466G>T)
c.3569G>T (p.Ser1190Ile)
c.3752G>T (p.Ser1251Ile)
c.*405G>T (n.*405G>T)
c.*413G>T (n.*413G>T)
c.*2127G>T (n.*2127G>T)
c.3746G>T (p.Ser1249Ile)
c.*3576G>T (n.*3576G>T)
c.3326G>T (p.Ser1109Ile)
c.500G>T (p.Ser167Ile)
c.1539G>T (n.1539G>T)
c.334G>T
c.1202G>T
c.3662G>T (p.Ser1221Ile)
c.3842G>T (p.Ser1281Ile)
c.3509G>T (p.Ser1170Ile)
7g.117642473T>ACA368974577CFTRc.3553T>A (p.Tyr1185Asn)
c.*3467T>A (n.*3467T>A)
c.3570T>A (p.Ser1190Arg)
c.3753T>A (p.Ser1251Arg)
c.*406T>A (n.*406T>A)
c.*414T>A (n.*414T>A)
c.*2128T>A (n.*2128T>A)
c.3747T>A (p.Ser1249Arg)
c.*3577T>A (n.*3577T>A)
c.3327T>A (p.Ser1109Arg)
c.501T>A (p.Ser167Arg)
c.1540T>A (n.1540T>A)
c.335T>A
c.1203T>A
c.3663T>A (p.Ser1221Arg)
c.3843T>A (p.Ser1281Arg)
c.3510T>A (p.Ser1170Arg)
7g.117642473T>CCA164947522CFTRc.3553T>C (p.Tyr1185His)
c.*3467T>C (n.*3467T>C)
c.3570T>C (p.Ser1190=)
c.3753T>C (p.Ser1251=)
c.*406T>C (n.*406T>C)
c.*414T>C (n.*414T>C)
c.*2128T>C (n.*2128T>C)
c.3747T>C (p.Ser1249=)
c.*3577T>C (n.*3577T>C)
c.3327T>C (p.Ser1109=)
c.501T>C (p.Ser167=)
c.1540T>C (n.1540T>C)
c.335T>C
c.1203T>C
c.3663T>C (p.Ser1221=)
c.3843T>C (p.Ser1281=)
c.3510T>C (p.Ser1170=)
 dbSNP
7g.117642473T>GCA368974574CFTRc.3553T>G (p.Tyr1185Asp)
c.*3467T>G (n.*3467T>G)
c.3570T>G (p.Ser1190Arg)
c.3753T>G (p.Ser1251Arg)
c.*406T>G (n.*406T>G)
c.*414T>G (n.*414T>G)
c.*2128T>G (n.*2128T>G)
c.3747T>G (p.Ser1249Arg)
c.*3577T>G (n.*3577T>G)
c.3327T>G (p.Ser1109Arg)
c.501T>G (p.Ser167Arg)
c.1540T>G (n.1540T>G)
c.335T>G
c.1203T>G
c.3663T>G (p.Ser1221Arg)
c.3843T>G (p.Ser1281Arg)
c.3510T>G (p.Ser1170Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.117642473T=CA1737404747CFTRc.3553T= (p.Tyr1185=)
c.*3467T= (n.*3467T=)
c.3570T= (p.Ser1190=)
c.3753T= (p.Ser1251=)
c.*406T= (n.*406T=)
c.*414T= (n.*414T=)
c.*2128T= (n.*2128T=)
c.3747T= (p.Ser1249=)
c.*3577T= (n.*3577T=)
c.3327T= (p.Ser1109=)
c.501T= (p.Ser167=)
c.1540T= (n.1540T=)
c.335T=
c.1203T=
c.3663T= (p.Ser1221=)
c.3843T= (p.Ser1281=)
c.3510T= (p.Ser1170=)
7g.117642474A=CA1737404748CFTRc.3554A= (p.Tyr1185=)
c.*3468A= (n.*3468A=)
c.3571A= (p.Thr1191=)
c.3754A= (p.Thr1252=)
c.*407A= (n.*407A=)
c.*415A= (n.*415A=)
c.*2129A= (n.*2129A=)
c.3748A= (p.Thr1250=)
c.*3578A= (n.*3578A=)
c.3328A= (p.Thr1110=)
c.502A= (p.Thr168=)
c.1541A= (n.1541A=)
c.336A=
c.1204A=
c.3664A= (p.Thr1222=)
c.3844A= (p.Thr1282=)
c.3511A= (p.Thr1171=)
7g.117642474A>CCA327276CFTRc.3554A>C (p.Tyr1185Ser)
c.*3468A>C (n.*3468A>C)
c.3571A>C (p.Thr1191Pro)
c.3754A>C (p.Thr1252Pro)
c.*407A>C (n.*407A>C)
c.*415A>C (n.*415A>C)
c.*2129A>C (n.*2129A>C)
c.3748A>C (p.Thr1250Pro)
c.*3578A>C (n.*3578A>C)
c.3328A>C (p.Thr1110Pro)
c.502A>C (p.Thr168Pro)
c.1541A>C (n.1541A>C)
c.336A>C
c.1204A>C
c.3664A>C (p.Thr1222Pro)
c.3844A>C (p.Thr1282Pro)
c.3511A>C (p.Thr1171Pro)
 ClinVar dbSNP
7g.117642474A>GCA368974582CFTRc.3554A>G (p.Tyr1185Cys)
c.*3468A>G (n.*3468A>G)
c.3571A>G (p.Thr1191Ala)
c.3754A>G (p.Thr1252Ala)
c.*407A>G (n.*407A>G)
c.*415A>G (n.*415A>G)
c.*2129A>G (n.*2129A>G)
c.3748A>G (p.Thr1250Ala)
c.*3578A>G (n.*3578A>G)
c.3328A>G (p.Thr1110Ala)
c.502A>G (p.Thr168Ala)
c.1541A>G (n.1541A>G)
c.336A>G
c.1204A>G
c.3664A>G (p.Thr1222Ala)
c.3844A>G (p.Thr1282Ala)
c.3511A>G (p.Thr1171Ala)
7g.117642474A>TCA368974585CFTRc.3554A>T (p.Tyr1185Phe)
c.*3468A>T (n.*3468A>T)
c.3571A>T (p.Thr1191Ser)
c.3754A>T (p.Thr1252Ser)
c.*407A>T (n.*407A>T)
c.*415A>T (n.*415A>T)
c.*2129A>T (n.*2129A>T)
c.3748A>T (p.Thr1250Ser)
c.*3578A>T (n.*3578A>T)
c.3328A>T (p.Thr1110Ser)
c.502A>T (p.Thr168Ser)
c.1541A>T (n.1541A>T)
c.336A>T
c.1204A>T
c.3664A>T (p.Thr1222Ser)
c.3844A>T (p.Thr1282Ser)
c.3511A>T (p.Thr1171Ser)
7g.117642474dupCA2695205218CFTRc.3554dup (p.Tyr1185Ter)
c.*3468dup (n.*3468dup)
c.3571dup (p.Thr1191AsnfsTer13)
c.3754dup (p.Thr1252AsnfsTer13)
c.*407dup (n.*407dup)
c.*415dup (n.*415dup)
c.*2129dup (n.*2129dup)
c.3748dup (p.Thr1250AsnfsTer13)
c.*3578dup (n.*3578dup)
c.3328dup (p.Thr1110AsnfsTer13)
c.502dup (p.Thr168AsnfsTer13)
c.1541dup (n.1541dup)
c.336dup
c.1204dup
c.3664dup (p.Thr1222AsnfsTer13)
c.3844dup (p.Thr1282AsnfsTer13)
c.3511dup (p.Thr1171AsnfsTer13)
7g.117642475C>ACA368974589CFTRc.3555C>A (p.Tyr1185Ter)
c.*3469C>A (n.*3469C>A)
c.3572C>A (p.Thr1191Asn)
c.3755C>A (p.Thr1252Asn)
c.*408C>A (n.*408C>A)
c.*416C>A (n.*416C>A)
c.*2130C>A (n.*2130C>A)
c.3749C>A (p.Thr1250Asn)
c.*3579C>A (n.*3579C>A)
c.3329C>A (p.Thr1110Asn)
c.503C>A (p.Thr168Asn)
c.1542C>A (n.1542C>A)
c.337C>A
c.1205C>A
c.3665C>A (p.Thr1222Asn)
c.3845C>A (p.Thr1282Asn)
c.3512C>A (p.Thr1171Asn)
7g.117642475C=CA1737404749CFTRc.3555C= (p.Tyr1185=)
c.*3469C= (n.*3469C=)
c.3572C= (p.Thr1191=)
c.3755C= (p.Thr1252=)
c.*408C= (n.*408C=)
c.*416C= (n.*416C=)
c.*2130C= (n.*2130C=)
c.3749C= (p.Thr1250=)
c.*3579C= (n.*3579C=)
c.3329C= (p.Thr1110=)
c.503C= (p.Thr168=)
c.1542C= (n.1542C=)
c.337C=
c.1205C=
c.3665C= (p.Thr1222=)
c.3845C= (p.Thr1282=)
c.3512C= (p.Thr1171=)
7g.117642475C>GCA368974591CFTRc.3555C>G (p.Tyr1185Ter)
c.*3469C>G (n.*3469C>G)
c.3572C>G (p.Thr1191Ser)
c.3755C>G (p.Thr1252Ser)
c.*408C>G (n.*408C>G)
c.*416C>G (n.*416C>G)
c.*2130C>G (n.*2130C>G)
c.3749C>G (p.Thr1250Ser)
c.*3579C>G (n.*3579C>G)
c.3329C>G (p.Thr1110Ser)
c.503C>G (p.Thr168Ser)
c.1542C>G (n.1542C>G)
c.337C>G
c.1205C>G
c.3665C>G (p.Thr1222Ser)
c.3845C>G (p.Thr1282Ser)
c.3512C>G (p.Thr1171Ser)
7g.117642475C>TCA368974595CFTRc.3555C>T (p.Tyr1185=)
c.*3469C>T (n.*3469C>T)
c.3572C>T (p.Thr1191Ile)
c.3755C>T (p.Thr1252Ile)
c.*408C>T (n.*408C>T)
c.*416C>T (n.*416C>T)
c.*2130C>T (n.*2130C>T)
c.3749C>T (p.Thr1250Ile)
c.*3579C>T (n.*3579C>T)
c.3329C>T (p.Thr1110Ile)
c.503C>T (p.Thr168Ile)
c.1542C>T (n.1542C>T)
c.337C>T
c.1205C>T
c.3665C>T (p.Thr1222Ile)
c.3845C>T (p.Thr1282Ile)
c.3512C>T (p.Thr1171Ile)
 dbSNP
7g.117642476T>ACA457228076CFTRc.3556T>A (p.Phe1186Ile)
c.*3470T>A (n.*3470T>A)
c.3573T>A (p.Thr1191=)
c.3756T>A (p.Thr1252=)
c.*409T>A (n.*409T>A)
c.*417T>A (n.*417T>A)
c.*2131T>A (n.*2131T>A)
c.3750T>A (p.Thr1250=)
c.*3580T>A (n.*3580T>A)
c.3330T>A (p.Thr1110=)
c.504T>A (p.Thr168=)
c.1543T>A (n.1543T>A)
c.338T>A
c.1206T>A
c.3666T>A (p.Thr1222=)
c.3846T>A (p.Thr1282=)
c.3513T>A (p.Thr1171=)
7g.117642476T>CCA457228077CFTRc.3556T>C (p.Phe1186Leu)
c.*3470T>C (n.*3470T>C)
c.3573T>C (p.Thr1191=)
c.3756T>C (p.Thr1252=)
c.*409T>C (n.*409T>C)
c.*417T>C (n.*417T>C)
c.*2131T>C (n.*2131T>C)
c.3750T>C (p.Thr1250=)
c.*3580T>C (n.*3580T>C)
c.3330T>C (p.Thr1110=)
c.504T>C (p.Thr168=)
c.1543T>C (n.1543T>C)
c.338T>C
c.1206T>C
c.3666T>C (p.Thr1222=)
c.3846T>C (p.Thr1282=)
c.3513T>C (p.Thr1171=)
 ClinVar
7g.117642476T>GCA457228078CFTRc.3556T>G (p.Phe1186Val)
c.*3470T>G (n.*3470T>G)
c.3573T>G (p.Thr1191=)
c.3756T>G (p.Thr1252=)
c.*409T>G (n.*409T>G)
c.*417T>G (n.*417T>G)
c.*2131T>G (n.*2131T>G)
c.3750T>G (p.Thr1250=)
c.*3580T>G (n.*3580T>G)
c.3330T>G (p.Thr1110=)
c.504T>G (p.Thr168=)
c.1543T>G (n.1543T>G)
c.338T>G
c.1206T>G
c.3666T>G (p.Thr1222=)
c.3846T>G (p.Thr1282=)
c.3513T>G (p.Thr1171=)
7g.117642477T>ACA368974599CFTRc.3557T>A (p.Phe1186Tyr)
c.*3471T>A (n.*3471T>A)
c.3574T>A (p.Leu1192Met)
c.3757T>A (p.Leu1253Met)
c.*410T>A (n.*410T>A)
c.*418T>A (n.*418T>A)
c.*2132T>A (n.*2132T>A)
c.3751T>A (p.Leu1251Met)
c.*3581T>A (n.*3581T>A)
c.3331T>A (p.Leu1111Met)
c.505T>A (p.Leu169Met)
c.1544T>A (n.1544T>A)
c.339T>A
c.1207T>A
c.3667T>A (p.Leu1223Met)
c.3847T>A (p.Leu1283Met)
c.3514T>A (p.Leu1172Met)
7g.117642477T>CCA164947526CFTRc.3557T>C (p.Phe1186Ser)
c.*3471T>C (n.*3471T>C)
c.3574T>C (p.Leu1192=)
c.3757T>C (p.Leu1253=)
c.*410T>C (n.*410T>C)
c.*418T>C (n.*418T>C)
c.*2132T>C (n.*2132T>C)
c.3751T>C (p.Leu1251=)
c.*3581T>C (n.*3581T>C)
c.3331T>C (p.Leu1111=)
c.505T>C (p.Leu169=)
c.1544T>C (n.1544T>C)
c.339T>C
c.1207T>C
c.3667T>C (p.Leu1223=)
c.3847T>C (p.Leu1283=)
c.3514T>C (p.Leu1172=)
 dbSNP gnomAD v2 gnomAD v4
7g.117642477T>GCA368974603CFTRc.3557T>G (p.Phe1186Cys)
c.*3471T>G (n.*3471T>G)
c.3574T>G (p.Leu1192Val)
c.3757T>G (p.Leu1253Val)
c.*410T>G (n.*410T>G)
c.*418T>G (n.*418T>G)
c.*2132T>G (n.*2132T>G)
c.3751T>G (p.Leu1251Val)
c.*3581T>G (n.*3581T>G)
c.3331T>G (p.Leu1111Val)
c.505T>G (p.Leu169Val)
c.1544T>G (n.1544T>G)
c.339T>G
c.1207T>G
c.3667T>G (p.Leu1223Val)
c.3847T>G (p.Leu1283Val)
c.3514T>G (p.Leu1172Val)
7g.117642477T=CA1737404750CFTRc.3557T= (p.Phe1186=)
c.*3471T= (n.*3471T=)
c.3574T= (p.Leu1192=)
c.3757T= (p.Leu1253=)
c.*410T= (n.*410T=)
c.*418T= (n.*418T=)
c.*2132T= (n.*2132T=)
c.3751T= (p.Leu1251=)
c.*3581T= (n.*3581T=)
c.3331T= (p.Leu1111=)
c.505T= (p.Leu169=)
c.1544T= (n.1544T=)
c.339T=
c.1207T=
c.3667T= (p.Leu1223=)
c.3847T= (p.Leu1283=)
c.3514T= (p.Leu1172=)
7g.117642478T>ACA368974614CFTRc.3558T>A (p.Phe1186Leu)
c.*3472T>A (n.*3472T>A)
c.3575T>A (p.Leu1192Ter)
c.3758T>A (p.Leu1253Ter)
c.*411T>A (n.*411T>A)
c.*419T>A (n.*419T>A)
c.*2133T>A (n.*2133T>A)
c.3752T>A (p.Leu1251Ter)
c.*3582T>A (n.*3582T>A)
c.3332T>A (p.Leu1111Ter)
c.506T>A (p.Leu169Ter)
c.1545T>A (n.1545T>A)
c.340T>A
c.1208T>A
c.3668T>A (p.Leu1223Ter)
c.3848T>A (p.Leu1283Ter)
c.3515T>A (p.Leu1172Ter)
7g.117642478T>CCA368974610CFTRc.3558T>C (p.Phe1186=)
c.*3472T>C (n.*3472T>C)
c.3575T>C (p.Leu1192Ser)
c.3758T>C (p.Leu1253Ser)
c.*411T>C (n.*411T>C)
c.*419T>C (n.*419T>C)
c.*2133T>C (n.*2133T>C)
c.3752T>C (p.Leu1251Ser)
c.*3582T>C (n.*3582T>C)
c.3332T>C (p.Leu1111Ser)
c.506T>C (p.Leu169Ser)
c.1545T>C (n.1545T>C)
c.340T>C
c.1208T>C
c.3668T>C (p.Leu1223Ser)
c.3848T>C (p.Leu1283Ser)
c.3515T>C (p.Leu1172Ser)
 COSMIC
7g.117642478T>GCA368974607CFTRc.3558T>G (p.Phe1186Leu)
c.*3472T>G (n.*3472T>G)
c.3575T>G (p.Leu1192Trp)
c.3758T>G (p.Leu1253Trp)
c.*411T>G (n.*411T>G)
c.*419T>G (n.*419T>G)
c.*2133T>G (n.*2133T>G)
c.3752T>G (p.Leu1251Trp)
c.*3582T>G (n.*3582T>G)
c.3332T>G (p.Leu1111Trp)
c.506T>G (p.Leu169Trp)
c.1545T>G (n.1545T>G)
c.340T>G
c.1208T>G
c.3668T>G (p.Leu1223Trp)
c.3848T>G (p.Leu1283Trp)
c.3515T>G (p.Leu1172Trp)
7g.117642479G>ACA339250CFTRc.3559G>A (p.Val1187Ile)
c.*3473G>A (n.*3473G>A)
c.3576G>A (p.Leu1192=)
c.3759G>A (p.Leu1253=)
c.*412G>A (n.*412G>A)
c.*420G>A (n.*420G>A)
c.*2134G>A (n.*2134G>A)
c.3753G>A (p.Leu1251=)
c.*3583G>A (n.*3583G>A)
c.3333G>A (p.Leu1111=)
c.507G>A (p.Leu169=)
c.1546G>A (n.1546G>A)
c.341G>A
c.1209G>A
c.3669G>A (p.Leu1223=)
c.3849G>A (p.Leu1283=)
c.3516G>A (p.Leu1172=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642479G>CCA327278CFTRc.3559G>C (p.Val1187Leu)
c.*3473G>C (n.*3473G>C)
c.3576G>C (p.Leu1192Phe)
c.3759G>C (p.Leu1253Phe)
c.*412G>C (n.*412G>C)
c.*420G>C (n.*420G>C)
c.*2134G>C (n.*2134G>C)
c.3753G>C (p.Leu1251Phe)
c.*3583G>C (n.*3583G>C)
c.3333G>C (p.Leu1111Phe)
c.507G>C (p.Leu169Phe)
c.1546G>C (n.1546G>C)
c.341G>C
c.1209G>C
c.3669G>C (p.Leu1223Phe)
c.3849G>C (p.Leu1283Phe)
c.3516G>C (p.Leu1172Phe)
 dbSNP
7g.117642479G=CA1737404751CFTRc.3559G= (p.Val1187=)
c.*3473G= (n.*3473G=)
c.3576G= (p.Leu1192=)
c.3759G= (p.Leu1253=)
c.*412G= (n.*412G=)
c.*420G= (n.*420G=)
c.*2134G= (n.*2134G=)
c.3753G= (p.Leu1251=)
c.*3583G= (n.*3583G=)
c.3333G= (p.Leu1111=)
c.507G= (p.Leu169=)
c.1546G= (n.1546G=)
c.341G=
c.1209G=
c.3669G= (p.Leu1223=)
c.3849G= (p.Leu1283=)
c.3516G= (p.Leu1172=)
7g.117642479G>TCA368974621CFTRc.3559G>T (p.Val1187Phe)
c.*3473G>T (n.*3473G>T)
c.3576G>T (p.Leu1192Phe)
c.3759G>T (p.Leu1253Phe)
c.*412G>T (n.*412G>T)
c.*420G>T (n.*420G>T)
c.*2134G>T (n.*2134G>T)
c.3753G>T (p.Leu1251Phe)
c.*3583G>T (n.*3583G>T)
c.3333G>T (p.Leu1111Phe)
c.507G>T (p.Leu169Phe)
c.1546G>T (n.1546G>T)
c.341G>T
c.1209G>T
c.3669G>T (p.Leu1223Phe)
c.3849G>T (p.Leu1283Phe)
c.3516G>T (p.Leu1172Phe)
 ClinVar
7g.117642480T>ACA368974625CFTRc.3560T>A (p.Val1187Asp)
c.*3474T>A (n.*3474T>A)
c.3577T>A (p.Leu1193Ile)
c.3760T>A (p.Leu1254Ile)
c.*413T>A (n.*413T>A)
c.*421T>A (n.*421T>A)
c.*2135T>A (n.*2135T>A)
c.3754T>A (p.Leu1252Ile)
c.*3584T>A (n.*3584T>A)
c.3334T>A (p.Leu1112Ile)
c.508T>A (p.Leu170Ile)
c.1547T>A (n.1547T>A)
c.342T>A
c.1210T>A
c.3670T>A (p.Leu1224Ile)
c.3850T>A (p.Leu1284Ile)
c.3517T>A (p.Leu1173Ile)
7g.117642480T>CCA457228079CFTRc.3560T>C (p.Val1187Ala)
c.*3474T>C (n.*3474T>C)
c.3577T>C (p.Leu1193=)
c.3760T>C (p.Leu1254=)
c.*413T>C (n.*413T>C)
c.*421T>C (n.*421T>C)
c.*2135T>C (n.*2135T>C)
c.3754T>C (p.Leu1252=)
c.*3584T>C (n.*3584T>C)
c.3334T>C (p.Leu1112=)
c.508T>C (p.Leu170=)
c.1547T>C (n.1547T>C)
c.342T>C
c.1210T>C
c.3670T>C (p.Leu1224=)
c.3850T>C (p.Leu1284=)
c.3517T>C (p.Leu1173=)
7g.117642480T>GCA368974628CFTRc.3560T>G (p.Val1187Gly)
c.*3474T>G (n.*3474T>G)
c.3577T>G (p.Leu1193Val)
c.3760T>G (p.Leu1254Val)
c.*413T>G (n.*413T>G)
c.*421T>G (n.*421T>G)
c.*2135T>G (n.*2135T>G)
c.3754T>G (p.Leu1252Val)
c.*3584T>G (n.*3584T>G)
c.3334T>G (p.Leu1112Val)
c.508T>G (p.Leu170Val)
c.1547T>G (n.1547T>G)
c.342T>G
c.1210T>G
c.3670T>G (p.Leu1224Val)
c.3850T>G (p.Leu1284Val)
c.3517T>G (p.Leu1173Val)
7g.117642481T>ACA368974631CFTRc.3561T>A (p.Val1187=)
c.*3475T>A (n.*3475T>A)
c.3578T>A (p.Leu1193Ter)
c.3761T>A (p.Leu1254Ter)
c.*414T>A (n.*414T>A)
c.*422T>A (n.*422T>A)
c.*2136T>A (n.*2136T>A)
c.3755T>A (p.Leu1252Ter)
c.*3585T>A (n.*3585T>A)
c.3335T>A (p.Leu1112Ter)
c.509T>A (p.Leu170Ter)
c.1548T>A (n.1548T>A)
c.343T>A
c.1211T>A
c.3671T>A (p.Leu1224Ter)
c.3851T>A (p.Leu1284Ter)
c.3518T>A (p.Leu1173Ter)
7g.117642481T>CCA368974634CFTRc.3561T>C (p.Val1187=)
c.*3475T>C (n.*3475T>C)
c.3578T>C (p.Leu1193Ser)
c.3761T>C (p.Leu1254Ser)
c.*414T>C (n.*414T>C)
c.*422T>C (n.*422T>C)
c.*2136T>C (n.*2136T>C)
c.3755T>C (p.Leu1252Ser)
c.*3585T>C (n.*3585T>C)
c.3335T>C (p.Leu1112Ser)
c.509T>C (p.Leu170Ser)
c.1548T>C (n.1548T>C)
c.343T>C
c.1211T>C
c.3671T>C (p.Leu1224Ser)
c.3851T>C (p.Leu1284Ser)
c.3518T>C (p.Leu1173Ser)
7g.117642481T>GCA327280CFTRc.3561T>G (p.Val1187=)
c.*3475T>G (n.*3475T>G)
c.3578T>G (p.Leu1193Ter)
c.3761T>G (p.Leu1254Ter)
c.*414T>G (n.*414T>G)
c.*422T>G (n.*422T>G)
c.*2136T>G (n.*2136T>G)
c.3755T>G (p.Leu1252Ter)
c.*3585T>G (n.*3585T>G)
c.3335T>G (p.Leu1112Ter)
c.509T>G (p.Leu170Ter)
c.1548T>G (n.1548T>G)
c.343T>G
c.1211T>G
c.3671T>G (p.Leu1224Ter)
c.3851T>G (p.Leu1284Ter)
c.3518T>G (p.Leu1173Ter)
 ClinVar dbSNP gnomAD v4
7g.117642481T=CA1737404752CFTRc.3561T= (p.Val1187=)
c.*3475T= (n.*3475T=)
c.3578T= (p.Leu1193=)
c.3761T= (p.Leu1254=)
c.*414T= (n.*414T=)
c.*422T= (n.*422T=)
c.*2136T= (n.*2136T=)
c.3755T= (p.Leu1252=)
c.*3585T= (n.*3585T=)
c.3335T= (p.Leu1112=)
c.509T= (p.Leu170=)
c.1548T= (n.1548T=)
c.343T=
c.1211T=
c.3671T= (p.Leu1224=)
c.3851T= (p.Leu1284=)
c.3518T= (p.Leu1173=)
7g.117642482A=CA1737404753CFTRc.3562A= (p.Ile1188=)
c.*3476A= (n.*3476A=)
c.3579A= (p.Leu1193=)
c.3762A= (p.Leu1254=)
c.*415A= (n.*415A=)
c.*423A= (n.*423A=)
c.*2137A= (n.*2137A=)
c.3756A= (p.Leu1252=)
c.*3586A= (n.*3586A=)
c.3336A= (p.Leu1112=)
c.510A= (p.Leu170=)
c.1549A= (n.1549A=)
c.344A=
c.1212A=
c.3672A= (p.Leu1224=)
c.3852A= (p.Leu1284=)
c.3519A= (p.Leu1173=)
7g.117642482A>CCA368974641CFTRc.3562A>C (p.Ile1188Leu)
c.*3476A>C (n.*3476A>C)
c.3579A>C (p.Leu1193Phe)
c.3762A>C (p.Leu1254Phe)
c.*415A>C (n.*415A>C)
c.*423A>C (n.*423A>C)
c.*2137A>C (n.*2137A>C)
c.3756A>C (p.Leu1252Phe)
c.*3586A>C (n.*3586A>C)
c.3336A>C (p.Leu1112Phe)
c.510A>C (p.Leu170Phe)
c.1549A>C (n.1549A>C)
c.344A>C
c.1212A>C
c.3672A>C (p.Leu1224Phe)
c.3852A>C (p.Leu1284Phe)
c.3519A>C (p.Leu1173Phe)
7g.117642482A>GCA457228081CFTRc.3562A>G (p.Ile1188Val)
c.*3476A>G (n.*3476A>G)
c.3579A>G (p.Leu1193=)
c.3762A>G (p.Leu1254=)
c.*415A>G (n.*415A>G)
c.*423A>G (n.*423A>G)
c.*2137A>G (n.*2137A>G)
c.3756A>G (p.Leu1252=)
c.*3586A>G (n.*3586A>G)
c.3336A>G (p.Leu1112=)
c.510A>G (p.Leu170=)
c.1549A>G (n.1549A>G)
c.344A>G
c.1212A>G
c.3672A>G (p.Leu1224=)
c.3852A>G (p.Leu1284=)
c.3519A>G (p.Leu1173=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117642482A>TCA4451542CFTRc.3562A>T (p.Ile1188Phe)
c.*3476A>T (n.*3476A>T)
c.3579A>T (p.Leu1193Phe)
c.3762A>T (p.Leu1254Phe)
c.*415A>T (n.*415A>T)
c.*423A>T (n.*423A>T)
c.*2137A>T (n.*2137A>T)
c.3756A>T (p.Leu1252Phe)
c.*3586A>T (n.*3586A>T)
c.3336A>T (p.Leu1112Phe)
c.510A>T (p.Leu170Phe)
c.1549A>T (n.1549A>T)
c.344A>T
c.1212A>T
c.3672A>T (p.Leu1224Phe)
c.3852A>T (p.Leu1284Phe)
c.3519A>T (p.Leu1173Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642483T>ACA368974648CFTRc.3563T>A (p.Ile1188Asn)
c.*3477T>A (n.*3477T>A)
c.3580T>A (p.Ser1194Thr)
c.3763T>A (p.Ser1255Thr)
c.*416T>A (n.*416T>A)
c.*424T>A (n.*424T>A)
c.*2138T>A (n.*2138T>A)
c.3757T>A (p.Ser1253Thr)
c.*3587T>A (n.*3587T>A)
c.3337T>A (p.Ser1113Thr)
c.511T>A (p.Ser171Thr)
c.1550T>A (n.1550T>A)
c.345T>A
c.1213T>A
c.3673T>A (p.Ser1225Thr)
c.3853T>A (p.Ser1285Thr)
c.3520T>A (p.Ser1174Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117642483T>CCA325580CFTRc.3563T>C (p.Ile1188Thr)
c.*3477T>C (n.*3477T>C)
c.3580T>C (p.Ser1194Pro)
c.3763T>C (p.Ser1255Pro)
c.*416T>C (n.*416T>C)
c.*424T>C (n.*424T>C)
c.*2138T>C (n.*2138T>C)
c.3757T>C (p.Ser1253Pro)
c.*3587T>C (n.*3587T>C)
c.3337T>C (p.Ser1113Pro)
c.511T>C (p.Ser171Pro)
c.1550T>C (n.1550T>C)
c.345T>C
c.1213T>C
c.3673T>C (p.Ser1225Pro)
c.3853T>C (p.Ser1285Pro)
c.3520T>C (p.Ser1174Pro)
 ClinVar dbSNP
7g.117642483T>GCA368974659CFTRc.3563T>G (p.Ile1188Ser)
c.*3477T>G (n.*3477T>G)
c.3580T>G (p.Ser1194Ala)
c.3763T>G (p.Ser1255Ala)
c.*416T>G (n.*416T>G)
c.*424T>G (n.*424T>G)
c.*2138T>G (n.*2138T>G)
c.3757T>G (p.Ser1253Ala)
c.*3587T>G (n.*3587T>G)
c.3337T>G (p.Ser1113Ala)
c.511T>G (p.Ser171Ala)
c.1550T>G (n.1550T>G)
c.345T>G
c.1213T>G
c.3673T>G (p.Ser1225Ala)
c.3853T>G (p.Ser1285Ala)
c.3520T>G (p.Ser1174Ala)
7g.117642483T=CA1737404754CFTRc.3563T= (p.Ile1188=)
c.*3477T= (n.*3477T=)
c.3580T= (p.Ser1194=)
c.3763T= (p.Ser1255=)
c.*416T= (n.*416T=)
c.*424T= (n.*424T=)
c.*2138T= (n.*2138T=)
c.3757T= (p.Ser1253=)
c.*3587T= (n.*3587T=)
c.3337T= (p.Ser1113=)
c.511T= (p.Ser171=)
c.1550T= (n.1550T=)
c.345T=
c.1213T=
c.3673T= (p.Ser1225=)
c.3853T= (p.Ser1285=)
c.3520T= (p.Ser1174=)
7g.117642484C>ACA325525CFTRc.3564C>A (p.Ile1188=)
c.*3478C>A (n.*3478C>A)
c.3581C>A (p.Ser1194Ter)
c.3764C>A (p.Ser1255Ter)
c.*417C>A (n.*417C>A)
c.*425C>A (n.*425C>A)
c.*2139C>A (n.*2139C>A)
c.3758C>A (p.Ser1253Ter)
c.*3588C>A (n.*3588C>A)
c.3338C>A (p.Ser1113Ter)
c.512C>A (p.Ser171Ter)
c.1551C>A (n.1551C>A)
c.346C>A
c.1214C>A
c.3674C>A (p.Ser1225Ter)
c.3854C>A (p.Ser1285Ter)
c.3521C>A (p.Ser1174Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117642484C=CA1737404755CFTRc.3564C= (p.Ile1188=)
c.*3478C= (n.*3478C=)
c.3581C= (p.Ser1194=)
c.3764C= (p.Ser1255=)
c.*417C= (n.*417C=)
c.*425C= (n.*425C=)
c.*2139C= (n.*2139C=)
c.3758C= (p.Ser1253=)
c.*3588C= (n.*3588C=)
c.3338C= (p.Ser1113=)
c.512C= (p.Ser171=)
c.1551C= (n.1551C=)
c.346C=
c.1214C=
c.3674C= (p.Ser1225=)
c.3854C= (p.Ser1285=)
c.3521C= (p.Ser1174=)
7g.117642484C>GCA368974665CFTRc.3564C>G (p.Ile1188Met)
c.*3478C>G (n.*3478C>G)
c.3581C>G (p.Ser1194Ter)
c.3764C>G (p.Ser1255Ter)
c.*417C>G (n.*417C>G)
c.*425C>G (n.*425C>G)
c.*2139C>G (n.*2139C>G)
c.3758C>G (p.Ser1253Ter)
c.*3588C>G (n.*3588C>G)
c.3338C>G (p.Ser1113Ter)
c.512C>G (p.Ser171Ter)
c.1551C>G (n.1551C>G)
c.346C>G
c.1214C>G
c.3674C>G (p.Ser1225Ter)
c.3854C>G (p.Ser1285Ter)
c.3521C>G (p.Ser1174Ter)
 COSMIC
7g.117642484C>TCA327282CFTRc.3564C>T (p.Ile1188=)
c.*3478C>T (n.*3478C>T)
c.3581C>T (p.Ser1194Leu)
c.3764C>T (p.Ser1255Leu)
c.*417C>T (n.*417C>T)
c.*425C>T (n.*425C>T)
c.*2139C>T (n.*2139C>T)
c.3758C>T (p.Ser1253Leu)
c.*3588C>T (n.*3588C>T)
c.3338C>T (p.Ser1113Leu)
c.512C>T (p.Ser171Leu)
c.1551C>T (n.1551C>T)
c.346C>T
c.1214C>T
c.3674C>T (p.Ser1225Leu)
c.3854C>T (p.Ser1285Leu)
c.3521C>T (p.Ser1174Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117642485A=CA1737404756CFTRc.3565A= (p.Ser1189=)
c.*3479A= (n.*3479A=)
c.3582A= (p.Ser1194=)
c.3765A= (p.Ser1255=)
c.*418A= (n.*418A=)
c.*426A= (n.*426A=)
c.*2140A= (n.*2140A=)
c.3759A= (p.Ser1253=)
c.*3589A= (n.*3589A=)
c.3339A= (p.Ser1113=)
c.513A= (p.Ser171=)
c.1552A= (n.1552A=)
c.347A=
c.1215A=
c.3675A= (p.Ser1225=)
c.3855A= (p.Ser1285=)
c.3522A= (p.Ser1174=)
7g.117642485A>CCA457228082CFTRc.3565A>C (p.Ser1189Arg)
c.*3479A>C (n.*3479A>C)
c.3582A>C (p.Ser1194=)
c.3765A>C (p.Ser1255=)
c.*418A>C (n.*418A>C)
c.*426A>C (n.*426A>C)
c.*2140A>C (n.*2140A>C)
c.3759A>C (p.Ser1253=)
c.*3589A>C (n.*3589A>C)
c.3339A>C (p.Ser1113=)
c.513A>C (p.Ser171=)
c.1552A>C (n.1552A>C)
c.347A>C
c.1215A>C
c.3675A>C (p.Ser1225=)
c.3855A>C (p.Ser1285=)
c.3522A>C (p.Ser1174=)
7g.117642485A>GCA164947550CFTRc.3565A>G (p.Ser1189Gly)
c.*3479A>G (n.*3479A>G)
c.3582A>G (p.Ser1194=)
c.3765A>G (p.Ser1255=)
c.*418A>G (n.*418A>G)
c.*426A>G (n.*426A>G)
c.*2140A>G (n.*2140A>G)
c.3759A>G (p.Ser1253=)
c.*3589A>G (n.*3589A>G)
c.3339A>G (p.Ser1113=)
c.513A>G (p.Ser171=)
c.1552A>G (n.1552A>G)
c.347A>G
c.1215A>G
c.3675A>G (p.Ser1225=)
c.3855A>G (p.Ser1285=)
c.3522A>G (p.Ser1174=)
 ClinVar dbSNP gnomAD v4
7g.117642485A>TCA457228083CFTRc.3565A>T (p.Ser1189Cys)
c.*3479A>T (n.*3479A>T)
c.3582A>T (p.Ser1194=)
c.3765A>T (p.Ser1255=)
c.*418A>T (n.*418A>T)
c.*426A>T (n.*426A>T)
c.*2140A>T (n.*2140A>T)
c.3759A>T (p.Ser1253=)
c.*3589A>T (n.*3589A>T)
c.3339A>T (p.Ser1113=)
c.513A>T (p.Ser171=)
c.1552A>T (n.1552A>T)
c.347A>T
c.1215A>T
c.3675A>T (p.Ser1225=)
c.3855A>T (p.Ser1285=)
c.3522A>T (p.Ser1174=)
7g.117642486G>ACA368974670CFTRc.3566G>A (p.Ser1189Asn)
c.*3480G>A (n.*3480G>A)
c.3583G>A (p.Ala1195Thr)
c.3766G>A (p.Ala1256Thr)
c.*419G>A (n.*419G>A)
c.*427G>A (n.*427G>A)
c.*2141G>A (n.*2141G>A)
c.3760G>A (p.Ala1254Thr)
c.*3590G>A (n.*3590G>A)
c.3340G>A (p.Ala1114Thr)
c.514G>A (p.Ala172Thr)
c.1553G>A (n.1553G>A)
c.348G>A
c.1216G>A
c.3676G>A (p.Ala1226Thr)
c.3856G>A (p.Ala1286Thr)
c.3523G>A (p.Ala1175Thr)
7g.117642486G>CCA368974676CFTRc.3566G>C (p.Ser1189Thr)
c.*3480G>C (n.*3480G>C)
c.3583G>C (p.Ala1195Pro)
c.3766G>C (p.Ala1256Pro)
c.*419G>C (n.*419G>C)
c.*427G>C (n.*427G>C)
c.*2141G>C (n.*2141G>C)
c.3760G>C (p.Ala1254Pro)
c.*3590G>C (n.*3590G>C)
c.3340G>C (p.Ala1114Pro)
c.514G>C (p.Ala172Pro)
c.1553G>C (n.1553G>C)
c.348G>C
c.1216G>C
c.3676G>C (p.Ala1226Pro)
c.3856G>C (p.Ala1286Pro)
c.3523G>C (p.Ala1175Pro)
7g.117642486G=CA1737404757CFTRc.3566G= (p.Ser1189=)
c.*3480G= (n.*3480G=)
c.3583G= (p.Ala1195=)
c.3766G= (p.Ala1256=)
c.*419G= (n.*419G=)
c.*427G= (n.*427G=)
c.*2141G= (n.*2141G=)
c.3760G= (p.Ala1254=)
c.*3590G= (n.*3590G=)
c.3340G= (p.Ala1114=)
c.514G= (p.Ala172=)
c.1553G= (n.1553G=)
c.348G=
c.1216G=
c.3676G= (p.Ala1226=)
c.3856G= (p.Ala1286=)
c.3523G= (p.Ala1175=)
7g.117642486G>TCA368974678CFTRc.3566G>T (p.Ser1189Ile)
c.*3480G>T (n.*3480G>T)
c.3583G>T (p.Ala1195Ser)
c.3766G>T (p.Ala1256Ser)
c.*419G>T (n.*419G>T)
c.*427G>T (n.*427G>T)
c.*2141G>T (n.*2141G>T)
c.3760G>T (p.Ala1254Ser)
c.*3590G>T (n.*3590G>T)
c.3340G>T (p.Ala1114Ser)
c.514G>T (p.Ala172Ser)
c.1553G>T (n.1553G>T)
c.348G>T
c.1216G>T
c.3676G>T (p.Ala1226Ser)
c.3856G>T (p.Ala1286Ser)
c.3523G>T (p.Ala1175Ser)
7g.117642487C>ACA368974688CFTRc.3567C>A (p.Ser1189Arg)
c.*3481C>A (n.*3481C>A)
c.3584C>A (p.Ala1195Asp)
c.3767C>A (p.Ala1256Asp)
c.*420C>A (n.*420C>A)
c.*428C>A (n.*428C>A)
c.*2142C>A (n.*2142C>A)
c.3761C>A (p.Ala1254Asp)
c.*3591C>A (n.*3591C>A)
c.3341C>A (p.Ala1114Asp)
c.515C>A (p.Ala172Asp)
c.1554C>A (n.1554C>A)
c.349C>A
c.1217C>A
c.3677C>A (p.Ala1226Asp)
c.3857C>A (p.Ala1286Asp)
c.3524C>A (p.Ala1175Asp)
7g.117642487C=CA1737404758CFTRc.3567C= (p.Ser1189=)
c.*3481C= (n.*3481C=)
c.3584C= (p.Ala1195=)
c.3767C= (p.Ala1256=)
c.*420C= (n.*420C=)
c.*428C= (n.*428C=)
c.*2142C= (n.*2142C=)
c.3761C= (p.Ala1254=)
c.*3591C= (n.*3591C=)
c.3341C= (p.Ala1114=)
c.515C= (p.Ala172=)
c.1554C= (n.1554C=)
c.349C=
c.1217C=
c.3677C= (p.Ala1226=)
c.3857C= (p.Ala1286=)
c.3524C= (p.Ala1175=)
7g.117642487C>GCA368974691CFTRc.3567C>G (p.Ser1189Arg)
c.*3481C>G (n.*3481C>G)
c.3584C>G (p.Ala1195Gly)
c.3767C>G (p.Ala1256Gly)
c.*420C>G (n.*420C>G)
c.*428C>G (n.*428C>G)
c.*2142C>G (n.*2142C>G)
c.3761C>G (p.Ala1254Gly)
c.*3591C>G (n.*3591C>G)
c.3341C>G (p.Ala1114Gly)
c.515C>G (p.Ala172Gly)
c.1554C>G (n.1554C>G)
c.349C>G
c.1217C>G
c.3677C>G (p.Ala1226Gly)
c.3857C>G (p.Ala1286Gly)
c.3524C>G (p.Ala1175Gly)
 ClinVar dbSNP
7g.117642487C>TCA4451543CFTRc.3567C>T (p.Ser1189=)
c.*3481C>T (n.*3481C>T)
c.3584C>T (p.Ala1195Val)
c.3767C>T (p.Ala1256Val)
c.*420C>T (n.*420C>T)
c.*428C>T (n.*428C>T)
c.*2142C>T (n.*2142C>T)
c.3761C>T (p.Ala1254Val)
c.*3591C>T (n.*3591C>T)
c.3341C>T (p.Ala1114Val)
c.515C>T (p.Ala172Val)
c.1554C>T (n.1554C>T)
c.349C>T
c.1217C>T
c.3677C>T (p.Ala1226Val)
c.3857C>T (p.Ala1286Val)
c.3524C>T (p.Ala1175Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117642487dupCA325569CFTRc.3567dup (p.Phe1190LeufsTer3)
c.*3481dup (n.*3481dup)
c.3584dup (p.Leu1197PhefsTer7)
c.3767dup (p.Leu1258PhefsTer7)
c.*420dup (n.*420dup)
c.*428dup (n.*428dup)
c.*2142dup (n.*2142dup)
c.3761dup (p.Leu1256PhefsTer7)
c.*3591dup (n.*3591dup)
c.3341dup (p.Leu1116PhefsTer7)
c.515dup (p.Leu174PhefsTer7)
c.1554dup (n.1554dup)
c.349dup
c.1217dup
c.3677dup (p.Leu1228PhefsTer7)
c.3857dup (p.Leu1288PhefsTer7)
c.3524dup (p.Leu1177PhefsTer7)
 ClinVar dbSNP
7g.117642488T>ACA457228086CFTRc.3568T>A (p.Phe1190Ile)
c.*3482T>A (n.*3482T>A)
c.3585T>A (p.Ala1195=)
c.3768T>A (p.Ala1256=)
c.*421T>A (n.*421T>A)
c.*429T>A (n.*429T>A)
c.*2143T>A (n.*2143T>A)
c.3762T>A (p.Ala1254=)
c.*3592T>A (n.*3592T>A)
c.3342T>A (p.Ala1114=)
c.516T>A (p.Ala172=)
c.1555T>A (n.1555T>A)
c.350T>A
c.1218T>A
c.3678T>A (p.Ala1226=)
c.3858T>A (p.Ala1286=)
c.3525T>A (p.Ala1175=)
 dbSNP gnomAD v4
7g.117642488T>CCA457228085CFTRc.3568T>C (p.Phe1190Leu)
c.*3482T>C (n.*3482T>C)
c.3585T>C (p.Ala1195=)
c.3768T>C (p.Ala1256=)
c.*421T>C (n.*421T>C)
c.*429T>C (n.*429T>C)
c.*2143T>C (n.*2143T>C)
c.3762T>C (p.Ala1254=)
c.*3592T>C (n.*3592T>C)
c.3342T>C (p.Ala1114=)
c.516T>C (p.Ala172=)
c.1555T>C (n.1555T>C)
c.350T>C
c.1218T>C
c.3678T>C (p.Ala1226=)
c.3858T>C (p.Ala1286=)
c.3525T>C (p.Ala1175=)
7g.117642488T>GCA457228084CFTRc.3568T>G (p.Phe1190Val)
c.*3482T>G (n.*3482T>G)
c.3585T>G (p.Ala1195=)
c.3768T>G (p.Ala1256=)
c.*421T>G (n.*421T>G)
c.*429T>G (n.*429T>G)
c.*2143T>G (n.*2143T>G)
c.3762T>G (p.Ala1254=)
c.*3592T>G (n.*3592T>G)
c.3342T>G (p.Ala1114=)
c.516T>G (p.Ala172=)
c.1555T>G (n.1555T>G)
c.350T>G
c.1218T>G
c.3678T>G (p.Ala1226=)
c.3858T>G (p.Ala1286=)
c.3525T>G (p.Ala1175=)
7g.117642493dupCA327288CFTRc.3573dup (p.Glu1192Ter)
c.*3487dup (n.*3487dup)
c.3590dup (p.Leu1197PhefsTer7)
c.3773dup (p.Leu1258PhefsTer7)
c.*426dup (n.*426dup)
c.*434dup (n.*434dup)
c.*2148dup (n.*2148dup)
c.3767dup (p.Leu1256PhefsTer7)
c.*3597dup (n.*3597dup)
c.3347dup (p.Leu1116PhefsTer7)
c.521dup (p.Leu174PhefsTer7)
c.1560dup (n.1560dup)
c.355dup
c.1223dup
c.3683dup (p.Leu1228PhefsTer7)
c.3863dup (p.Leu1288PhefsTer7)
c.3530dup (p.Leu1177PhefsTer7)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117642489T>ACA368974704CFTRc.3569T>A (p.Phe1190Tyr)
c.*3483T>A (n.*3483T>A)
c.3586T>A (p.Phe1196Ile)
c.3769T>A (p.Phe1257Ile)
c.*422T>A (n.*422T>A)
c.*430T>A (n.*430T>A)
c.*2144T>A (n.*2144T>A)
c.3763T>A (p.Phe1255Ile)
c.*3593T>A (n.*3593T>A)
c.3343T>A (p.Phe1115Ile)
c.517T>A (p.Phe173Ile)
c.1556T>A (n.1556T>A)
c.351T>A
c.1219T>A
c.3679T>A (p.Phe1227Ile)
c.3859T>A (p.Phe1287Ile)
c.3526T>A (p.Phe1176Ile)
7g.117642489T>CCA164947572CFTRc.3569T>C (p.Phe1190Ser)
c.*3483T>C (n.*3483T>C)
c.3586T>C (p.Phe1196Leu)
c.3769T>C (p.Phe1257Leu)
c.*422T>C (n.*422T>C)
c.*430T>C (n.*430T>C)
c.*2144T>C (n.*2144T>C)
c.3763T>C (p.Phe1255Leu)
c.*3593T>C (n.*3593T>C)
c.3343T>C (p.Phe1115Leu)
c.517T>C (p.Phe173Leu)
c.1556T>C (n.1556T>C)
c.351T>C
c.1219T>C
c.3679T>C (p.Phe1227Leu)
c.3859T>C (p.Phe1287Leu)
c.3526T>C (p.Phe1176Leu)
 dbSNP
7g.117642489T>GCA368974705CFTRc.3569T>G (p.Phe1190Cys)
c.*3483T>G (n.*3483T>G)
c.3586T>G (p.Phe1196Val)
c.3769T>G (p.Phe1257Val)
c.*422T>G (n.*422T>G)
c.*430T>G (n.*430T>G)
c.*2144T>G (n.*2144T>G)
c.3763T>G (p.Phe1255Val)
c.*3593T>G (n.*3593T>G)
c.3343T>G (p.Phe1115Val)
c.517T>G (p.Phe173Val)
c.1556T>G (n.1556T>G)
c.351T>G
c.1219T>G
c.3679T>G (p.Phe1227Val)
c.3859T>G (p.Phe1287Val)
c.3526T>G (p.Phe1176Val)
7g.117642489T=CA1737404759CFTRc.3569T= (p.Phe1190=)
c.*3483T= (n.*3483T=)
c.3586T= (p.Phe1196=)
c.3769T= (p.Phe1257=)
c.*422T= (n.*422T=)
c.*430T= (n.*430T=)
c.*2144T= (n.*2144T=)
c.3763T= (p.Phe1255=)
c.*3593T= (n.*3593T=)
c.3343T= (p.Phe1115=)
c.517T= (p.Phe173=)
c.1556T= (n.1556T=)
c.351T=
c.1219T=
c.3679T= (p.Phe1227=)
c.3859T= (p.Phe1287=)
c.3526T= (p.Phe1176=)
7g.117642490T>ACA368974709CFTRc.3570T>A (p.Phe1190Leu)
c.*3484T>A (n.*3484T>A)
c.3587T>A (p.Phe1196Tyr)
c.3770T>A (p.Phe1257Tyr)
c.*423T>A (n.*423T>A)
c.*431T>A (n.*431T>A)
c.*2145T>A (n.*2145T>A)
c.3764T>A (p.Phe1255Tyr)
c.*3594T>A (n.*3594T>A)
c.3344T>A (p.Phe1115Tyr)
c.518T>A (p.Phe173Tyr)
c.1557T>A (n.1557T>A)
c.352T>A
c.1220T>A
c.3680T>A (p.Phe1227Tyr)
c.3860T>A (p.Phe1287Tyr)
c.3527T>A (p.Phe1176Tyr)
7g.117642490T>CCA368974711CFTRc.3570T>C (p.Phe1190=)
c.*3484T>C (n.*3484T>C)
c.3587T>C (p.Phe1196Ser)
c.3770T>C (p.Phe1257Ser)
c.*423T>C (n.*423T>C)
c.*431T>C (n.*431T>C)
c.*2145T>C (n.*2145T>C)
c.3764T>C (p.Phe1255Ser)
c.*3594T>C (n.*3594T>C)
c.3344T>C (p.Phe1115Ser)
c.518T>C (p.Phe173Ser)
c.1557T>C (n.1557T>C)
c.352T>C
c.1220T>C
c.3680T>C (p.Phe1227Ser)
c.3860T>C (p.Phe1287Ser)
c.3527T>C (p.Phe1176Ser)
7g.117642490T>GCA368974706CFTRc.3570T>G (p.Phe1190Leu)
c.*3484T>G (n.*3484T>G)
c.3587T>G (p.Phe1196Cys)
c.3770T>G (p.Phe1257Cys)
c.*423T>G (n.*423T>G)
c.*431T>G (n.*431T>G)
c.*2145T>G (n.*2145T>G)
c.3764T>G (p.Phe1255Cys)
c.*3594T>G (n.*3594T>G)
c.3344T>G (p.Phe1115Cys)
c.518T>G (p.Phe173Cys)
c.1557T>G (n.1557T>G)
c.352T>G
c.1220T>G
c.3680T>G (p.Phe1227Cys)
c.3860T>G (p.Phe1287Cys)
c.3527T>G (p.Phe1176Cys)
 gnomAD v4
7g.117642491T>ACA368974714CFTRc.3571T>A (p.Phe1191Ile)
c.*3485T>A (n.*3485T>A)
c.3588T>A (p.Phe1196Leu)
c.3771T>A (p.Phe1257Leu)
c.*424T>A (n.*424T>A)
c.*432T>A (n.*432T>A)
c.*2146T>A (n.*2146T>A)
c.3765T>A (p.Phe1255Leu)
c.*3595T>A (n.*3595T>A)
c.3345T>A (p.Phe1115Leu)
c.519T>A (p.Phe173Leu)
c.1558T>A (n.1558T>A)
c.353T>A
c.1221T>A
c.3681T>A (p.Phe1227Leu)
c.3861T>A (p.Phe1287Leu)
c.3528T>A (p.Phe1176Leu)
7g.117642491T>CCA457228093CFTRc.3571T>C (p.Phe1191Leu)
c.*3485T>C (n.*3485T>C)
c.3588T>C (p.Phe1196=)
c.3771T>C (p.Phe1257=)
c.*424T>C (n.*424T>C)
c.*432T>C (n.*432T>C)
c.*2146T>C (n.*2146T>C)
c.3765T>C (p.Phe1255=)
c.*3595T>C (n.*3595T>C)
c.3345T>C (p.Phe1115=)
c.519T>C (p.Phe173=)
c.1558T>C (n.1558T>C)
c.353T>C
c.1221T>C
c.3681T>C (p.Phe1227=)
c.3861T>C (p.Phe1287=)
c.3528T>C (p.Phe1176=)
7g.117642491T>GCA327286CFTRc.3571T>G (p.Phe1191Val)
c.*3485T>G (n.*3485T>G)
c.3588T>G (p.Phe1196Leu)
c.3771T>G (p.Phe1257Leu)
c.*424T>G (n.*424T>G)
c.*432T>G (n.*432T>G)
c.*2146T>G (n.*2146T>G)
c.3765T>G (p.Phe1255Leu)
c.*3595T>G (n.*3595T>G)
c.3345T>G (p.Phe1115Leu)
c.519T>G (p.Phe173Leu)
c.1558T>G (n.1558T>G)
c.353T>G
c.1221T>G
c.3681T>G (p.Phe1227Leu)
c.3861T>G (p.Phe1287Leu)
c.3528T>G (p.Phe1176Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642491T=CA1737404760CFTRc.3571T= (p.Phe1191=)
c.*3485T= (n.*3485T=)
c.3588T= (p.Phe1196=)
c.3771T= (p.Phe1257=)
c.*424T= (n.*424T=)
c.*432T= (n.*432T=)
c.*2146T= (n.*2146T=)
c.3765T= (p.Phe1255=)
c.*3595T= (n.*3595T=)
c.3345T= (p.Phe1115=)
c.519T= (p.Phe173=)
c.1558T= (n.1558T=)
c.353T=
c.1221T=
c.3681T= (p.Phe1227=)
c.3861T= (p.Phe1287=)
c.3528T= (p.Phe1176=)
7g.117642492T>ACA368974722CFTRc.3572T>A (p.Phe1191Tyr)
c.*3486T>A (n.*3486T>A)
c.3589T>A (p.Leu1197Met)
c.3772T>A (p.Leu1258Met)
c.*425T>A (n.*425T>A)
c.*433T>A (n.*433T>A)
c.*2147T>A (n.*2147T>A)
c.3766T>A (p.Leu1256Met)
c.*3596T>A (n.*3596T>A)
c.3346T>A (p.Leu1116Met)
c.520T>A (p.Leu174Met)
c.1559T>A (n.1559T>A)
c.354T>A
c.1222T>A
c.3682T>A (p.Leu1228Met)
c.3862T>A (p.Leu1288Met)
c.3529T>A (p.Leu1177Met)
7g.117642492T>CCA164947580CFTRc.3572T>C (p.Phe1191Ser)
c.*3486T>C (n.*3486T>C)
c.3589T>C (p.Leu1197=)
c.3772T>C (p.Leu1258=)
c.*425T>C (n.*425T>C)
c.*433T>C (n.*433T>C)
c.*2147T>C (n.*2147T>C)
c.3766T>C (p.Leu1256=)
c.*3596T>C (n.*3596T>C)
c.3346T>C (p.Leu1116=)
c.520T>C (p.Leu174=)
c.1559T>C (n.1559T>C)
c.354T>C
c.1222T>C
c.3682T>C (p.Leu1228=)
c.3862T>C (p.Leu1288=)
c.3529T>C (p.Leu1177=)
 ClinVar dbSNP gnomAD v4
7g.117642492T>GCA368974728CFTRc.3572T>G (p.Phe1191Cys)
c.*3486T>G (n.*3486T>G)
c.3589T>G (p.Leu1197Val)
c.3772T>G (p.Leu1258Val)
c.*425T>G (n.*425T>G)
c.*433T>G (n.*433T>G)
c.*2147T>G (n.*2147T>G)
c.3766T>G (p.Leu1256Val)
c.*3596T>G (n.*3596T>G)
c.3346T>G (p.Leu1116Val)
c.520T>G (p.Leu174Val)
c.1559T>G (n.1559T>G)
c.354T>G
c.1222T>G
c.3682T>G (p.Leu1228Val)
c.3862T>G (p.Leu1288Val)
c.3529T>G (p.Leu1177Val)
7g.117642492T=CA1737404761CFTRc.3572T= (p.Phe1191=)
c.*3486T= (n.*3486T=)
c.3589T= (p.Leu1197=)
c.3772T= (p.Leu1258=)
c.*425T= (n.*425T=)
c.*433T= (n.*433T=)
c.*2147T= (n.*2147T=)
c.3766T= (p.Leu1256=)
c.*3596T= (n.*3596T=)
c.3346T= (p.Leu1116=)
c.520T= (p.Leu174=)
c.1559T= (n.1559T=)
c.354T=
c.1222T=
c.3682T= (p.Leu1228=)
c.3862T= (p.Leu1288=)
c.3529T= (p.Leu1177=)
7g.117642493T>ACA368974736CFTRc.3573T>A (p.Phe1191Leu)
c.*3487T>A (n.*3487T>A)
c.3590T>A (p.Leu1197Ter)
c.3773T>A (p.Leu1258Ter)
c.*426T>A (n.*426T>A)
c.*434T>A (n.*434T>A)
c.*2148T>A (n.*2148T>A)
c.3767T>A (p.Leu1256Ter)
c.*3597T>A (n.*3597T>A)
c.3347T>A (p.Leu1116Ter)
c.521T>A (p.Leu174Ter)
c.1560T>A (n.1560T>A)
c.355T>A
c.1223T>A
c.3683T>A (p.Leu1228Ter)
c.3863T>A (p.Leu1288Ter)
c.3530T>A (p.Leu1177Ter)
7g.117642493T>CCA368974734CFTRc.3573T>C (p.Phe1191=)
c.*3487T>C (n.*3487T>C)
c.3590T>C (p.Leu1197Ser)
c.3773T>C (p.Leu1258Ser)
c.*426T>C (n.*426T>C)
c.*434T>C (n.*434T>C)
c.*2148T>C (n.*2148T>C)
c.3767T>C (p.Leu1256Ser)
c.*3597T>C (n.*3597T>C)
c.3347T>C (p.Leu1116Ser)
c.521T>C (p.Leu174Ser)
c.1560T>C (n.1560T>C)
c.355T>C
c.1223T>C
c.3683T>C (p.Leu1228Ser)
c.3863T>C (p.Leu1288Ser)
c.3530T>C (p.Leu1177Ser)
7g.117642493T>GCA368974731CFTRc.3573T>G (p.Phe1191Leu)
c.*3487T>G (n.*3487T>G)
c.3590T>G (p.Leu1197Trp)
c.3773T>G (p.Leu1258Trp)
c.*426T>G (n.*426T>G)
c.*434T>G (n.*434T>G)
c.*2148T>G (n.*2148T>G)
c.3767T>G (p.Leu1256Trp)
c.*3597T>G (n.*3597T>G)
c.3347T>G (p.Leu1116Trp)
c.521T>G (p.Leu174Trp)
c.1560T>G (n.1560T>G)
c.355T>G
c.1223T>G
c.3683T>G (p.Leu1228Trp)
c.3863T>G (p.Leu1288Trp)
c.3530T>G (p.Leu1177Trp)
 gnomAD v4
7g.117642493T=CA1737404762CFTRc.3573T= (p.Phe1191=)
c.*3487T= (n.*3487T=)
c.3590T= (p.Leu1197=)
c.3773T= (p.Leu1258=)
c.*426T= (n.*426T=)
c.*434T= (n.*434T=)
c.*2148T= (n.*2148T=)
c.3767T= (p.Leu1256=)
c.*3597T= (n.*3597T=)
c.3347T= (p.Leu1116=)
c.521T= (p.Leu174=)
c.1560T= (n.1560T=)
c.355T=
c.1223T=
c.3683T= (p.Leu1228=)
c.3863T= (p.Leu1288=)
c.3530T= (p.Leu1177=)
7g.117642496_117642504delCA2684620472CFTRc.3576_3584del (p.Thr1193_Glu1195del)
c.*3490_*3498del (n.*3490_*3498del)
c.3593_3601del (p.Arg1198_Leu1200del)
c.3776_3784del (p.Arg1259_Leu1261del)
c.*429_*437del (n.*429_*437del)
c.*437_*445del (n.*437_*445del)
c.*2151_*2159del (n.*2151_*2159del)
c.3770_3778del (p.Arg1257_Leu1259del)
c.*3600_*3608del (n.*3600_*3608del)
c.3350_3358del (p.Arg1117_Leu1119del)
c.524_532del (p.Arg175_Leu177del)
c.1563_1571del (n.1563_1571del)
c.358_366del
c.1226_1234del
c.3686_3694del (p.Arg1229_Leu1231del)
c.3866_3874del (p.Arg1289_Leu1291del)
c.3533_3541del (p.Arg1178_Leu1180del)
 gnomAD v4
7g.117642493_117642494insACA368974739CFTRc.3573_3574insA (p.Glu1192ArgfsTer4)
c.*3487_*3488insA (n.*3487_*3488insA)
c.3590_3591insA (p.Arg1198GlufsTer6)
c.3773_3774insA (p.Arg1259GlufsTer6)
c.*426_*427insA (n.*426_*427insA)
c.*434_*435insA (n.*434_*435insA)
c.*2148_*2149insA (n.*2148_*2149insA)
c.3767_3768insA (p.Arg1257GlufsTer6)
c.*3597_*3598insA (n.*3597_*3598insA)
c.3347_3348insA (p.Arg1117GlufsTer6)
c.521_522insA (p.Arg175GlufsTer6)
c.1560_1561insA (n.1560_1561insA)
c.355_356insA
c.1223_1224insA
c.3683_3684insA (p.Arg1229GlufsTer6)
c.3863_3864insA (p.Arg1289GlufsTer6)
c.3530_3531insA (p.Arg1178GlufsTer6)
7g.117642494G>ACA457228109CFTRc.3574G>A (p.Glu1192Lys)
c.*3488G>A (n.*3488G>A)
c.3591G>A (p.Leu1197=)
c.3774G>A (p.Leu1258=)
c.*427G>A (n.*427G>A)
c.*435G>A (n.*435G>A)
c.*2149G>A (n.*2149G>A)
c.3768G>A (p.Leu1256=)
c.*3598G>A (n.*3598G>A)
c.3348G>A (p.Leu1116=)
c.522G>A (p.Leu174=)
c.1561G>A (n.1561G>A)
c.356G>A
c.1224G>A
c.3684G>A (p.Leu1228=)
c.3864G>A (p.Leu1288=)
c.3531G>A (p.Leu1177=)
7g.117642494G>CCA368974743CFTRc.3574G>C (p.Glu1192Gln)
c.*3488G>C (n.*3488G>C)
c.3591G>C (p.Leu1197Phe)
c.3774G>C (p.Leu1258Phe)
c.*427G>C (n.*427G>C)
c.*435G>C (n.*435G>C)
c.*2149G>C (n.*2149G>C)
c.3768G>C (p.Leu1256Phe)
c.*3598G>C (n.*3598G>C)
c.3348G>C (p.Leu1116Phe)
c.522G>C (p.Leu174Phe)
c.1561G>C (n.1561G>C)
c.356G>C
c.1224G>C
c.3684G>C (p.Leu1228Phe)
c.3864G>C (p.Leu1288Phe)
c.3531G>C (p.Leu1177Phe)
7g.117642494G>TCA368974746CFTRc.3574G>T (p.Glu1192Ter)
c.*3488G>T (n.*3488G>T)
c.3591G>T (p.Leu1197Phe)
c.3774G>T (p.Leu1258Phe)
c.*427G>T (n.*427G>T)
c.*435G>T (n.*435G>T)
c.*2149G>T (n.*2149G>T)
c.3768G>T (p.Leu1256Phe)
c.*3598G>T (n.*3598G>T)
c.3348G>T (p.Leu1116Phe)
c.522G>T (p.Leu174Phe)
c.1561G>T (n.1561G>T)
c.356G>T
c.1224G>T
c.3684G>T (p.Leu1228Phe)
c.3864G>T (p.Leu1288Phe)
c.3531G>T (p.Leu1177Phe)
7g.117642494dupCA327289CFTRc.3574dup (p.Glu1192GlyfsTer4)
c.*3488dup (n.*3488dup)
c.3591dup (p.Arg1198GlufsTer6)
c.3774dup (p.Arg1259GlufsTer6)
c.*427dup (n.*427dup)
c.*435dup (n.*435dup)
c.*2149dup (n.*2149dup)
c.3768dup (p.Arg1257GlufsTer6)
c.*3598dup (n.*3598dup)
c.3348dup (p.Arg1117GlufsTer6)
c.522dup (p.Arg175GlufsTer6)
c.1561dup (n.1561dup)
c.356dup
c.1224dup
c.3684dup (p.Arg1229GlufsTer6)
c.3864dup (p.Arg1289GlufsTer6)
c.3531dup (p.Arg1178GlufsTer6)
 dbSNP
7g.117642495A>CCA457228113CFTRc.3575A>C (p.Glu1192Ala)
c.*3489A>C (n.*3489A>C)
c.3592A>C (p.Arg1198=)
c.3775A>C (p.Arg1259=)
c.*428A>C (n.*428A>C)
c.*436A>C (n.*436A>C)
c.*2150A>C (n.*2150A>C)
c.3769A>C (p.Arg1257=)
c.*3599A>C (n.*3599A>C)
c.3349A>C (p.Arg1117=)
c.523A>C (p.Arg175=)
c.1562A>C (n.1562A>C)
c.357A>C
c.1225A>C
c.3685A>C (p.Arg1229=)
c.3865A>C (p.Arg1289=)
c.3532A>C (p.Arg1178=)
7g.117642495A>GCA368974749CFTRc.3575A>G (p.Glu1192Gly)
c.*3489A>G (n.*3489A>G)
c.3592A>G (p.Arg1198Gly)
c.3775A>G (p.Arg1259Gly)
c.*428A>G (n.*428A>G)
c.*436A>G (n.*436A>G)
c.*2150A>G (n.*2150A>G)
c.3769A>G (p.Arg1257Gly)
c.*3599A>G (n.*3599A>G)
c.3349A>G (p.Arg1117Gly)
c.523A>G (p.Arg175Gly)
c.1562A>G (n.1562A>G)
c.357A>G
c.1225A>G
c.3685A>G (p.Arg1229Gly)
c.3865A>G (p.Arg1289Gly)
c.3532A>G (p.Arg1178Gly)
7g.117642495A>TCA368974762CFTRc.3575A>T (p.Glu1192Val)
c.*3489A>T (n.*3489A>T)
c.3592A>T (p.Arg1198Ter)
c.3775A>T (p.Arg1259Ter)
c.*428A>T (n.*428A>T)
c.*436A>T (n.*436A>T)
c.*2150A>T (n.*2150A>T)
c.3769A>T (p.Arg1257Ter)
c.*3599A>T (n.*3599A>T)
c.3349A>T (p.Arg1117Ter)
c.523A>T (p.Arg175Ter)
c.1562A>T (n.1562A>T)
c.357A>T
c.1225A>T
c.3685A>T (p.Arg1229Ter)
c.3865A>T (p.Arg1289Ter)
c.3532A>T (p.Arg1178Ter)
7g.117642496G>ACA368974767CFTRc.3576G>A (p.Glu1192=)
c.*3490G>A (n.*3490G>A)
c.3593G>A (p.Arg1198Lys)
c.3776G>A (p.Arg1259Lys)
c.*429G>A (n.*429G>A)
c.*437G>A (n.*437G>A)
c.*2151G>A (n.*2151G>A)
c.3770G>A (p.Arg1257Lys)
c.*3600G>A (n.*3600G>A)
c.3350G>A (p.Arg1117Lys)
c.524G>A (p.Arg175Lys)
c.1563G>A (n.1563G>A)
c.358G>A
c.1226G>A
c.3686G>A (p.Arg1229Lys)
c.3866G>A (p.Arg1289Lys)
c.3533G>A (p.Arg1178Lys)
7g.117642496G>CCA368974774CFTRc.3576G>C (p.Glu1192Asp)
c.*3490G>C (n.*3490G>C)
c.3593G>C (p.Arg1198Thr)
c.3776G>C (p.Arg1259Thr)
c.*429G>C (n.*429G>C)
c.*437G>C (n.*437G>C)
c.*2151G>C (n.*2151G>C)
c.3770G>C (p.Arg1257Thr)
c.*3600G>C (n.*3600G>C)
c.3350G>C (p.Arg1117Thr)
c.524G>C (p.Arg175Thr)
c.1563G>C (n.1563G>C)
c.358G>C
c.1226G>C
c.3686G>C (p.Arg1229Thr)
c.3866G>C (p.Arg1289Thr)
c.3533G>C (p.Arg1178Thr)
 ClinVar dbSNP gnomAD v2
7g.117642496G=CA1737404764CFTRc.3576G= (p.Glu1192=)
c.*3490G= (n.*3490G=)
c.3593G= (p.Arg1198=)
c.3776G= (p.Arg1259=)
c.*429G= (n.*429G=)
c.*437G= (n.*437G=)
c.*2151G= (n.*2151G=)
c.3770G= (p.Arg1257=)
c.*3600G= (n.*3600G=)
c.3350G= (p.Arg1117=)
c.524G= (p.Arg175=)
c.1563G= (n.1563G=)
c.358G=
c.1226G=
c.3686G= (p.Arg1229=)
c.3866G= (p.Arg1289=)
c.3533G= (p.Arg1178=)
7g.117642496G>TCA368974771CFTRc.3576G>T (p.Glu1192Asp)
c.*3490G>T (n.*3490G>T)
c.3593G>T (p.Arg1198Ile)
c.3776G>T (p.Arg1259Ile)
c.*429G>T (n.*429G>T)
c.*437G>T (n.*437G>T)
c.*2151G>T (n.*2151G>T)
c.3770G>T (p.Arg1257Ile)
c.*3600G>T (n.*3600G>T)
c.3350G>T (p.Arg1117Ile)
c.524G>T (p.Arg175Ile)
c.1563G>T (n.1563G>T)
c.358G>T
c.1226G>T
c.3686G>T (p.Arg1229Ile)
c.3866G>T (p.Arg1289Ile)
c.3533G>T (p.Arg1178Ile)
7g.117642496_117642499delinsGACTCA1737404763CFTRc.3576_3579delinsGACT (p.Glu1192=)
c.*3490_*3493delinsGACT (n.*3490_*3493delinsGACT)
c.3593_3596delinsGACT (p.Arg1198=)
c.3776_3779delinsGACT (p.Arg1259=)
c.*429_*432delinsGACT (n.*429_*432delinsGACT)
c.*437_*440delinsGACT (n.*437_*440delinsGACT)
c.*2151_*2154delinsGACT (n.*2151_*2154delinsGACT)
c.3770_3773delinsGACT (p.Arg1257=)
c.*3600_*3603delinsGACT (n.*3600_*3603delinsGACT)
c.3350_3353delinsGACT (p.Arg1117=)
c.524_527delinsGACT (p.Arg175=)
c.1563_1566delinsGACT (n.1563_1566delinsGACT)
c.358_361delinsGACT
c.1226_1229delinsGACT
c.3686_3689delinsGACT (p.Arg1229=)
c.3866_3869delinsGACT (p.Arg1289=)
c.3533_3536delinsGACT (p.Arg1178=)
7g.117642497A>CCA368974776CFTRc.3577A>C (p.Thr1193Pro)
c.*3491A>C (n.*3491A>C)
c.3594A>C (p.Arg1198Ser)
c.3777A>C (p.Arg1259Ser)
c.*430A>C (n.*430A>C)
c.*438A>C (n.*438A>C)
c.*2152A>C (n.*2152A>C)
c.3771A>C (p.Arg1257Ser)
c.*3601A>C (n.*3601A>C)
c.3351A>C (p.Arg1117Ser)
c.525A>C (p.Arg175Ser)
c.1564A>C (n.1564A>C)
c.359A>C
c.1227A>C
c.3687A>C (p.Arg1229Ser)
c.3867A>C (p.Arg1289Ser)
c.3534A>C (p.Arg1178Ser)
7g.117642497A>GCA457228121CFTRc.3577A>G (p.Thr1193Ala)
c.*3491A>G (n.*3491A>G)
c.3594A>G (p.Arg1198=)
c.3777A>G (p.Arg1259=)
c.*430A>G (n.*430A>G)
c.*438A>G (n.*438A>G)
c.*2152A>G (n.*2152A>G)
c.3771A>G (p.Arg1257=)
c.*3601A>G (n.*3601A>G)
c.3351A>G (p.Arg1117=)
c.525A>G (p.Arg175=)
c.1564A>G (n.1564A>G)
c.359A>G
c.1227A>G
c.3687A>G (p.Arg1229=)
c.3867A>G (p.Arg1289=)
c.3534A>G (p.Arg1178=)
 gnomAD v4
7g.117642497A>TCA368974782CFTRc.3577A>T (p.Thr1193Ser)
c.*3491A>T (n.*3491A>T)
c.3594A>T (p.Arg1198Ser)
c.3777A>T (p.Arg1259Ser)
c.*430A>T (n.*430A>T)
c.*438A>T (n.*438A>T)
c.*2152A>T (n.*2152A>T)
c.3771A>T (p.Arg1257Ser)
c.*3601A>T (n.*3601A>T)
c.3351A>T (p.Arg1117Ser)
c.525A>T (p.Arg175Ser)
c.1564A>T (n.1564A>T)
c.359A>T
c.1227A>T
c.3687A>T (p.Arg1229Ser)
c.3867A>T (p.Arg1289Ser)
c.3534A>T (p.Arg1178Ser)
7g.117642500_117642502delCA327292CFTRc.3580_3582del (p.Thr1194del)
c.*3494_*3496del (n.*3494_*3496del)
c.3597_3599del (p.Leu1200del)
c.3780_3782del (p.Leu1261del)
c.*433_*435del (n.*433_*435del)
c.*441_*443del (n.*441_*443del)
c.*2155_*2157del (n.*2155_*2157del)
c.3774_3776del (p.Leu1259del)
c.*3604_*3606del (n.*3604_*3606del)
c.3354_3356del (p.Leu1119del)
c.528_530del (p.Leu177del)
c.1567_1569del (n.1567_1569del)
c.362_364del
c.1230_1232del
c.3690_3692del (p.Leu1231del)
c.3870_3872del (p.Leu1291del)
c.3537_3539del (p.Leu1180del)
 ClinVar dbSNP
7g.117642498C>ACA368974788CFTRc.3578C>A (p.Thr1193Asn)
c.*3492C>A (n.*3492C>A)
c.3595C>A (p.Leu1199Ile)
c.3778C>A (p.Leu1260Ile)
c.*431C>A (n.*431C>A)
c.*439C>A (n.*439C>A)
c.*2153C>A (n.*2153C>A)
c.3772C>A (p.Leu1258Ile)
c.*3602C>A (n.*3602C>A)
c.3352C>A (p.Leu1118Ile)
c.526C>A (p.Leu176Ile)
c.1565C>A (n.1565C>A)
c.360C>A
c.1228C>A
c.3688C>A (p.Leu1230Ile)
c.3868C>A (p.Leu1290Ile)
c.3535C>A (p.Leu1179Ile)
7g.117642498C=CA1737404765CFTRc.3578C= (p.Thr1193=)
c.*3492C= (n.*3492C=)
c.3595C= (p.Leu1199=)
c.3778C= (p.Leu1260=)
c.*431C= (n.*431C=)
c.*439C= (n.*439C=)
c.*2153C= (n.*2153C=)
c.3772C= (p.Leu1258=)
c.*3602C= (n.*3602C=)
c.3352C= (p.Leu1118=)
c.526C= (p.Leu176=)
c.1565C= (n.1565C=)
c.360C=
c.1228C=
c.3688C= (p.Leu1230=)
c.3868C= (p.Leu1290=)
c.3535C= (p.Leu1179=)
7g.117642498C>GCA368974787CFTRc.3578C>G (p.Thr1193Ser)
c.*3492C>G (n.*3492C>G)
c.3595C>G (p.Leu1199Val)
c.3778C>G (p.Leu1260Val)
c.*431C>G (n.*431C>G)
c.*439C>G (n.*439C>G)
c.*2153C>G (n.*2153C>G)
c.3772C>G (p.Leu1258Val)
c.*3602C>G (n.*3602C>G)
c.3352C>G (p.Leu1118Val)
c.526C>G (p.Leu176Val)
c.1565C>G (n.1565C>G)
c.360C>G
c.1228C>G
c.3688C>G (p.Leu1230Val)
c.3868C>G (p.Leu1290Val)
c.3535C>G (p.Leu1179Val)
 dbSNP
7g.117642498C>TCA457228125CFTRc.3578C>T (p.Thr1193Ile)
c.*3492C>T (n.*3492C>T)
c.3595C>T (p.Leu1199=)
c.3778C>T (p.Leu1260=)
c.*431C>T (n.*431C>T)
c.*439C>T (n.*439C>T)
c.*2153C>T (n.*2153C>T)
c.3772C>T (p.Leu1258=)
c.*3602C>T (n.*3602C>T)
c.3352C>T (p.Leu1118=)
c.526C>T (p.Leu176=)
c.1565C>T (n.1565C>T)
c.360C>T
c.1228C>T
c.3688C>T (p.Leu1230=)
c.3868C>T (p.Leu1290=)
c.3535C>T (p.Leu1179=)
7g.117642499T>ACA368974803CFTRc.3579T>A (p.Thr1193=)
c.*3493T>A (n.*3493T>A)
c.3596T>A (p.Leu1199Gln)
c.3779T>A (p.Leu1260Gln)
c.*432T>A (n.*432T>A)
c.*440T>A (n.*440T>A)
c.*2154T>A (n.*2154T>A)
c.3773T>A (p.Leu1258Gln)
c.*3603T>A (n.*3603T>A)
c.3353T>A (p.Leu1118Gln)
c.527T>A (p.Leu176Gln)
c.1566T>A (n.1566T>A)
c.361T>A
c.1229T>A
c.3689T>A (p.Leu1230Gln)
c.3869T>A (p.Leu1290Gln)
c.3536T>A (p.Leu1179Gln)
7g.117642499T>CCA368974798CFTRc.3579T>C (p.Thr1193=)
c.*3493T>C (n.*3493T>C)
c.3596T>C (p.Leu1199Pro)
c.3779T>C (p.Leu1260Pro)
c.*432T>C (n.*432T>C)
c.*440T>C (n.*440T>C)
c.*2154T>C (n.*2154T>C)
c.3773T>C (p.Leu1258Pro)
c.*3603T>C (n.*3603T>C)
c.3353T>C (p.Leu1118Pro)
c.527T>C (p.Leu176Pro)
c.1566T>C (n.1566T>C)
c.361T>C
c.1229T>C
c.3689T>C (p.Leu1230Pro)
c.3869T>C (p.Leu1290Pro)
c.3536T>C (p.Leu1179Pro)
 ClinVar
7g.117642499T>GCA368974793CFTRc.3579T>G (p.Thr1193=)
c.*3493T>G (n.*3493T>G)
c.3596T>G (p.Leu1199Arg)
c.3779T>G (p.Leu1260Arg)
c.*432T>G (n.*432T>G)
c.*440T>G (n.*440T>G)
c.*2154T>G (n.*2154T>G)
c.3773T>G (p.Leu1258Arg)
c.*3603T>G (n.*3603T>G)
c.3353T>G (p.Leu1118Arg)
c.527T>G (p.Leu176Arg)
c.1566T>G (n.1566T>G)
c.361T>G
c.1229T>G
c.3689T>G (p.Leu1230Arg)
c.3869T>G (p.Leu1290Arg)
c.3536T>G (p.Leu1179Arg)
7g.117642500A=CA1737404766CFTRc.3580A= (p.Thr1194=)
c.*3494A= (n.*3494A=)
c.3597A= (p.Leu1199=)
c.3780A= (p.Leu1260=)
c.*433A= (n.*433A=)
c.*441A= (n.*441A=)
c.*2155A= (n.*2155A=)
c.3774A= (p.Leu1258=)
c.*3604A= (n.*3604A=)
c.3354A= (p.Leu1118=)
c.528A= (p.Leu176=)
c.1567A= (n.1567A=)
c.362A=
c.1230A=
c.3690A= (p.Leu1230=)
c.3870A= (p.Leu1290=)
c.3537A= (p.Leu1179=)
7g.117642500A>CCA457228133CFTRc.3580A>C (p.Thr1194Pro)
c.*3494A>C (n.*3494A>C)
c.3597A>C (p.Leu1199=)
c.3780A>C (p.Leu1260=)
c.*433A>C (n.*433A>C)
c.*441A>C (n.*441A>C)
c.*2155A>C (n.*2155A>C)
c.3774A>C (p.Leu1258=)
c.*3604A>C (n.*3604A>C)
c.3354A>C (p.Leu1118=)
c.528A>C (p.Leu176=)
c.1567A>C (n.1567A>C)
c.362A>C
c.1230A>C
c.3690A>C (p.Leu1230=)
c.3870A>C (p.Leu1290=)
c.3537A>C (p.Leu1179=)
 ClinVar dbSNP gnomAD v4
7g.117642500A>GCA164947584CFTRc.3580A>G (p.Thr1194Ala)
c.*3494A>G (n.*3494A>G)
c.3597A>G (p.Leu1199=)
c.3780A>G (p.Leu1260=)
c.*433A>G (n.*433A>G)
c.*441A>G (n.*441A>G)
c.*2155A>G (n.*2155A>G)
c.3774A>G (p.Leu1258=)
c.*3604A>G (n.*3604A>G)
c.3354A>G (p.Leu1118=)
c.528A>G (p.Leu176=)
c.1567A>G (n.1567A>G)
c.362A>G
c.1230A>G
c.3690A>G (p.Leu1230=)
c.3870A>G (p.Leu1290=)
c.3537A>G (p.Leu1179=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117642500A>TCA457228136CFTRc.3580A>T (p.Thr1194Ser)
c.*3494A>T (n.*3494A>T)
c.3597A>T (p.Leu1199=)
c.3780A>T (p.Leu1260=)
c.*433A>T (n.*433A>T)
c.*441A>T (n.*441A>T)
c.*2155A>T (n.*2155A>T)
c.3774A>T (p.Leu1258=)
c.*3604A>T (n.*3604A>T)
c.3354A>T (p.Leu1118=)
c.528A>T (p.Leu176=)
c.1567A>T (n.1567A>T)
c.362A>T
c.1230A>T
c.3690A>T (p.Leu1230=)
c.3870A>T (p.Leu1290=)
c.3537A>T (p.Leu1179=)
7g.117642501C>ACA368974818CFTRc.3581C>A (p.Thr1194Asn)
c.*3495C>A (n.*3495C>A)
c.3598C>A (p.Leu1200Met)
c.3781C>A (p.Leu1261Met)
c.*434C>A (n.*434C>A)
c.*442C>A (n.*442C>A)
c.*2156C>A (n.*2156C>A)
c.3775C>A (p.Leu1259Met)
c.*3605C>A (n.*3605C>A)
c.3355C>A (p.Leu1119Met)
c.529C>A (p.Leu177Met)
c.1568C>A (n.1568C>A)
c.363C>A
c.1231C>A
c.3691C>A (p.Leu1231Met)
c.3871C>A (p.Leu1291Met)
c.3538C>A (p.Leu1180Met)
7g.117642501C>GCA368974819CFTRc.3581C>G (p.Thr1194Ser)
c.*3495C>G (n.*3495C>G)
c.3598C>G (p.Leu1200Val)
c.3781C>G (p.Leu1261Val)
c.*434C>G (n.*434C>G)
c.*442C>G (n.*442C>G)
c.*2156C>G (n.*2156C>G)
c.3775C>G (p.Leu1259Val)
c.*3605C>G (n.*3605C>G)
c.3355C>G (p.Leu1119Val)
c.529C>G (p.Leu177Val)
c.1568C>G (n.1568C>G)
c.363C>G
c.1231C>G
c.3691C>G (p.Leu1231Val)
c.3871C>G (p.Leu1291Val)
c.3538C>G (p.Leu1180Val)
7g.117642501C>TCA457228140CFTRc.3581C>T (p.Thr1194Ile)
c.*3495C>T (n.*3495C>T)
c.3598C>T (p.Leu1200=)
c.3781C>T (p.Leu1261=)
c.*434C>T (n.*434C>T)
c.*442C>T (n.*442C>T)
c.*2156C>T (n.*2156C>T)
c.3775C>T (p.Leu1259=)
c.*3605C>T (n.*3605C>T)
c.3355C>T (p.Leu1119=)
c.529C>T (p.Leu177=)
c.1568C>T (n.1568C>T)
c.363C>T
c.1231C>T
c.3691C>T (p.Leu1231=)
c.3871C>T (p.Leu1291=)
c.3538C>T (p.Leu1180=)
7g.117642502T>ACA368974822CFTRc.3582T>A (p.Thr1194=)
c.*3496T>A (n.*3496T>A)
c.3599T>A (p.Leu1200Gln)
c.3782T>A (p.Leu1261Gln)
c.*435T>A (n.*435T>A)
c.*443T>A (n.*443T>A)
c.*2157T>A (n.*2157T>A)
c.3776T>A (p.Leu1259Gln)
c.*3606T>A (n.*3606T>A)
c.3356T>A (p.Leu1119Gln)
c.530T>A (p.Leu177Gln)
c.1569T>A (n.1569T>A)
c.364T>A
c.1232T>A
c.3692T>A (p.Leu1231Gln)
c.3872T>A (p.Leu1291Gln)
c.3539T>A (p.Leu1180Gln)
7g.117642502T>CCA368974830CFTRc.3582T>C (p.Thr1194=)
c.*3496T>C (n.*3496T>C)
c.3599T>C (p.Leu1200Pro)
c.3782T>C (p.Leu1261Pro)
c.*435T>C (n.*435T>C)
c.*443T>C (n.*443T>C)
c.*2157T>C (n.*2157T>C)
c.3776T>C (p.Leu1259Pro)
c.*3606T>C (n.*3606T>C)
c.3356T>C (p.Leu1119Pro)
c.530T>C (p.Leu177Pro)
c.1569T>C (n.1569T>C)
c.364T>C
c.1232T>C
c.3692T>C (p.Leu1231Pro)
c.3872T>C (p.Leu1291Pro)
c.3539T>C (p.Leu1180Pro)
7g.117642502T>GCA368974826CFTRc.3582T>G (p.Thr1194=)
c.*3496T>G (n.*3496T>G)
c.3599T>G (p.Leu1200Arg)
c.3782T>G (p.Leu1261Arg)
c.*435T>G (n.*435T>G)
c.*443T>G (n.*443T>G)
c.*2157T>G (n.*2157T>G)
c.3776T>G (p.Leu1259Arg)
c.*3606T>G (n.*3606T>G)
c.3356T>G (p.Leu1119Arg)
c.530T>G (p.Leu177Arg)
c.1569T>G (n.1569T>G)
c.364T>G
c.1232T>G
c.3692T>G (p.Leu1231Arg)
c.3872T>G (p.Leu1291Arg)
c.3539T>G (p.Leu1180Arg)
 ClinVar
7g.117642502_117642503delCA2580076346CFTRc.3582_3583del (p.Glu1195ThrfsTer16)
c.*3496_*3497del (n.*3496_*3497del)
c.3599_3600del (p.Leu1200GlnfsTer3)
c.3782_3783del (p.Leu1261GlnfsTer3)
c.*435_*436del (n.*435_*436del)
c.*443_*444del (n.*443_*444del)
c.*2157_*2158del (n.*2157_*2158del)
c.3776_3777del (p.Leu1259GlnfsTer3)
c.*3606_*3607del (n.*3606_*3607del)
c.3356_3357del (p.Leu1119GlnfsTer3)
c.530_531del (p.Leu177GlnfsTer3)
c.1569_1570del (n.1569_1570del)
c.364_365del
c.1232_1233del
c.3692_3693del (p.Leu1231GlnfsTer3)
c.3872_3873del (p.Leu1291GlnfsTer3)
c.3539_3540del (p.Leu1180GlnfsTer3)
 ClinVar
7g.117642503G>ACA457228146CFTRc.3583G>A (p.Glu1195Lys)
c.*3497G>A (n.*3497G>A)
c.3600G>A (p.Leu1200=)
c.3783G>A (p.Leu1261=)
c.*436G>A (n.*436G>A)
c.*444G>A (n.*444G>A)
c.*2158G>A (n.*2158G>A)
c.3777G>A (p.Leu1259=)
c.*3607G>A (n.*3607G>A)
c.3357G>A (p.Leu1119=)
c.531G>A (p.Leu177=)
c.1570G>A (n.1570G>A)
c.365G>A
c.1233G>A
c.3693G>A (p.Leu1231=)
c.3873G>A (p.Leu1291=)
c.3540G>A (p.Leu1180=)
7g.117642503G>CCA457228147CFTRc.3583G>C (p.Glu1195Gln)
c.*3497G>C (n.*3497G>C)
c.3600G>C (p.Leu1200=)
c.3783G>C (p.Leu1261=)
c.*436G>C (n.*436G>C)
c.*444G>C (n.*444G>C)
c.*2158G>C (n.*2158G>C)
c.3777G>C (p.Leu1259=)
c.*3607G>C (n.*3607G>C)
c.3357G>C (p.Leu1119=)
c.531G>C (p.Leu177=)
c.1570G>C (n.1570G>C)
c.365G>C
c.1233G>C
c.3693G>C (p.Leu1231=)
c.3873G>C (p.Leu1291=)
c.3540G>C (p.Leu1180=)
 ClinVar dbSNP gnomAD v4
7g.117642503G=CA1737404767CFTRc.3583G= (p.Glu1195=)
c.*3497G= (n.*3497G=)
c.3600G= (p.Leu1200=)
c.3783G= (p.Leu1261=)
c.*436G= (n.*436G=)
c.*444G= (n.*444G=)
c.*2158G= (n.*2158G=)
c.3777G= (p.Leu1259=)
c.*3607G= (n.*3607G=)
c.3357G= (p.Leu1119=)
c.531G= (p.Leu177=)
c.1570G= (n.1570G=)
c.365G=
c.1233G=
c.3693G= (p.Leu1231=)
c.3873G= (p.Leu1291=)
c.3540G= (p.Leu1180=)
7g.117642503G>TCA4451544CFTRc.3583G>T (p.Glu1195Ter)
c.*3497G>T (n.*3497G>T)
c.3600G>T (p.Leu1200=)
c.3783G>T (p.Leu1261=)
c.*436G>T (n.*436G>T)
c.*444G>T (n.*444G>T)
c.*2158G>T (n.*2158G>T)
c.3777G>T (p.Leu1259=)
c.*3607G>T (n.*3607G>T)
c.3357G>T (p.Leu1119=)
c.531G>T (p.Leu177=)
c.1570G>T (n.1570G>T)
c.365G>T
c.1233G>T
c.3693G>T (p.Leu1231=)
c.3873G>T (p.Leu1291=)
c.3540G>T (p.Leu1180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642504A>CCA368974843CFTRc.3584A>C (p.Glu1195Ala)
c.*3498A>C (n.*3498A>C)
c.3601A>C (p.Asn1201His)
c.3784A>C (p.Asn1262His)
c.*437A>C (n.*437A>C)
c.*445A>C (n.*445A>C)
c.*2159A>C (n.*2159A>C)
c.3778A>C (p.Asn1260His)
c.*3608A>C (n.*3608A>C)
c.3358A>C (p.Asn1120His)
c.532A>C (p.Asn178His)
c.1571A>C (n.1571A>C)
c.366A>C
c.1234A>C
c.3694A>C (p.Asn1232His)
c.3874A>C (p.Asn1292His)
c.3541A>C (p.Asn1181His)
7g.117642504A>GCA368974837CFTRc.3584A>G (p.Glu1195Gly)
c.*3498A>G (n.*3498A>G)
c.3601A>G (p.Asn1201Asp)
c.3784A>G (p.Asn1262Asp)
c.*437A>G (n.*437A>G)
c.*445A>G (n.*445A>G)
c.*2159A>G (n.*2159A>G)
c.3778A>G (p.Asn1260Asp)
c.*3608A>G (n.*3608A>G)
c.3358A>G (p.Asn1120Asp)
c.532A>G (p.Asn178Asp)
c.1571A>G (n.1571A>G)
c.366A>G
c.1234A>G
c.3694A>G (p.Asn1232Asp)
c.3874A>G (p.Asn1292Asp)
c.3541A>G (p.Asn1181Asp)
7g.117642504A>TCA368974847CFTRc.3584A>T (p.Glu1195Val)
c.*3498A>T (n.*3498A>T)
c.3601A>T (p.Asn1201Tyr)
c.3784A>T (p.Asn1262Tyr)
c.*437A>T (n.*437A>T)
c.*445A>T (n.*445A>T)
c.*2159A>T (n.*2159A>T)
c.3778A>T (p.Asn1260Tyr)
c.*3608A>T (n.*3608A>T)
c.3358A>T (p.Asn1120Tyr)
c.532A>T (p.Asn178Tyr)
c.1571A>T (n.1571A>T)
c.366A>T
c.1234A>T
c.3694A>T (p.Asn1232Tyr)
c.3874A>T (p.Asn1292Tyr)
c.3541A>T (p.Asn1181Tyr)
7g.117642505A>CCA368974848CFTRc.3585A>C (p.Glu1195Asp)
c.*3499A>C (n.*3499A>C)
c.3602A>C (p.Asn1201Thr)
c.3785A>C (p.Asn1262Thr)
c.*438A>C (n.*438A>C)
c.*446A>C (n.*446A>C)
c.*2160A>C (n.*2160A>C)
c.3779A>C (p.Asn1260Thr)
c.*3609A>C (n.*3609A>C)
c.3359A>C (p.Asn1120Thr)
c.533A>C (p.Asn178Thr)
c.1572A>C (n.1572A>C)
c.367A>C
c.1235A>C
c.3695A>C (p.Asn1232Thr)
c.3875A>C (p.Asn1292Thr)
c.3542A>C (p.Asn1181Thr)
7g.117642505A>GCA368974849CFTRc.3585A>G (p.Glu1195=)
c.*3499A>G (n.*3499A>G)
c.3602A>G (p.Asn1201Ser)
c.3785A>G (p.Asn1262Ser)
c.*438A>G (n.*438A>G)
c.*446A>G (n.*446A>G)
c.*2160A>G (n.*2160A>G)
c.3779A>G (p.Asn1260Ser)
c.*3609A>G (n.*3609A>G)
c.3359A>G (p.Asn1120Ser)
c.533A>G (p.Asn178Ser)
c.1572A>G (n.1572A>G)
c.367A>G
c.1235A>G
c.3695A>G (p.Asn1232Ser)
c.3875A>G (p.Asn1292Ser)
c.3542A>G (p.Asn1181Ser)
7g.117642505A>TCA368974852CFTRc.3585A>T (p.Glu1195Asp)
c.*3499A>T (n.*3499A>T)
c.3602A>T (p.Asn1201Ile)
c.3785A>T (p.Asn1262Ile)
c.*438A>T (n.*438A>T)
c.*446A>T (n.*446A>T)
c.*2160A>T (n.*2160A>T)
c.3779A>T (p.Asn1260Ile)
c.*3609A>T (n.*3609A>T)
c.3359A>T (p.Asn1120Ile)
c.533A>T (p.Asn178Ile)
c.1572A>T (n.1572A>T)
c.367A>T
c.1235A>T
c.3695A>T (p.Asn1232Ile)
c.3875A>T (p.Asn1292Ile)
c.3542A>T (p.Asn1181Ile)
7g.117642506C>ACA368974855CFTRc.3586C>A (p.His1196Asn)
c.*3500C>A (n.*3500C>A)
c.3603C>A (p.Asn1201Lys)
c.3786C>A (p.Asn1262Lys)
c.*439C>A (n.*439C>A)
c.*447C>A (n.*447C>A)
c.*2161C>A (n.*2161C>A)
c.3780C>A (p.Asn1260Lys)
c.*3610C>A (n.*3610C>A)
c.3360C>A (p.Asn1120Lys)
c.534C>A (p.Asn178Lys)
c.1573C>A (n.1573C>A)
c.368C>A
c.1236C>A
c.3696C>A (p.Asn1232Lys)
c.3876C>A (p.Asn1292Lys)
c.3543C>A (p.Asn1181Lys)
7g.117642506C>GCA368974859CFTRc.3586C>G (p.His1196Asp)
c.*3500C>G (n.*3500C>G)
c.3603C>G (p.Asn1201Lys)
c.3786C>G (p.Asn1262Lys)
c.*439C>G (n.*439C>G)
c.*447C>G (n.*447C>G)
c.*2161C>G (n.*2161C>G)
c.3780C>G (p.Asn1260Lys)
c.*3610C>G (n.*3610C>G)
c.3360C>G (p.Asn1120Lys)
c.534C>G (p.Asn178Lys)
c.1573C>G (n.1573C>G)
c.368C>G
c.1236C>G
c.3696C>G (p.Asn1232Lys)
c.3876C>G (p.Asn1292Lys)
c.3543C>G (p.Asn1181Lys)
7g.117642506C>TCA457228161CFTRc.3586C>T (p.His1196Tyr)
c.*3500C>T (n.*3500C>T)
c.3603C>T (p.Asn1201=)
c.3786C>T (p.Asn1262=)
c.*439C>T (n.*439C>T)
c.*447C>T (n.*447C>T)
c.*2161C>T (n.*2161C>T)
c.3780C>T (p.Asn1260=)
c.*3610C>T (n.*3610C>T)
c.3360C>T (p.Asn1120=)
c.534C>T (p.Asn178=)
c.1573C>T (n.1573C>T)
c.368C>T
c.1236C>T
c.3696C>T (p.Asn1232=)
c.3876C>T (p.Asn1292=)
c.3543C>T (p.Asn1181=)
7g.117642507A=CA1737404769CFTRc.3587A= (p.His1196=)
c.*3501A= (n.*3501A=)
c.3604A= (p.Thr1202=)
c.3787A= (p.Thr1263=)
c.*440A= (n.*440A=)
c.*448A= (n.*448A=)
c.*2162A= (n.*2162A=)
c.3781A= (p.Thr1261=)
c.*3611A= (n.*3611A=)
c.3361A= (p.Thr1121=)
c.535A= (p.Thr179=)
c.1574A= (n.1574A=)
c.369A=
c.1237A=
c.3697A= (p.Thr1233=)
c.3877A= (p.Thr1293=)
c.3544A= (p.Thr1182=)
7g.117642507A>CCA368974863CFTRc.3587A>C (p.His1196Pro)
c.*3501A>C (n.*3501A>C)
c.3604A>C (p.Thr1202Pro)
c.3787A>C (p.Thr1263Pro)
c.*440A>C (n.*440A>C)
c.*448A>C (n.*448A>C)
c.*2162A>C (n.*2162A>C)
c.3781A>C (p.Thr1261Pro)
c.*3611A>C (n.*3611A>C)
c.3361A>C (p.Thr1121Pro)
c.535A>C (p.Thr179Pro)
c.1574A>C (n.1574A>C)
c.369A>C
c.1237A>C
c.3697A>C (p.Thr1233Pro)
c.3877A>C (p.Thr1293Pro)
c.3544A>C (p.Thr1182Pro)
7g.117642507A>GCA368974865CFTRc.3587A>G (p.His1196Arg)
c.*3501A>G (n.*3501A>G)
c.3604A>G (p.Thr1202Ala)
c.3787A>G (p.Thr1263Ala)
c.*440A>G (n.*440A>G)
c.*448A>G (n.*448A>G)
c.*2162A>G (n.*2162A>G)
c.3781A>G (p.Thr1261Ala)
c.*3611A>G (n.*3611A>G)
c.3361A>G (p.Thr1121Ala)
c.535A>G (p.Thr179Ala)
c.1574A>G (n.1574A>G)
c.369A>G
c.1237A>G
c.3697A>G (p.Thr1233Ala)
c.3877A>G (p.Thr1293Ala)
c.3544A>G (p.Thr1182Ala)
 ClinVar dbSNP
7g.117642507A>TCA368974868CFTRc.3587A>T (p.His1196Leu)
c.*3501A>T (n.*3501A>T)
c.3604A>T (p.Thr1202Ser)
c.3787A>T (p.Thr1263Ser)
c.*440A>T (n.*440A>T)
c.*448A>T (n.*448A>T)
c.*2162A>T (n.*2162A>T)
c.3781A>T (p.Thr1261Ser)
c.*3611A>T (n.*3611A>T)
c.3361A>T (p.Thr1121Ser)
c.535A>T (p.Thr179Ser)
c.1574A>T (n.1574A>T)
c.369A>T
c.1237A>T
c.3697A>T (p.Thr1233Ser)
c.3877A>T (p.Thr1293Ser)
c.3544A>T (p.Thr1182Ser)
7g.117642507_117642508delinsACCA1737404768CFTRc.3587_3588delinsAC (p.His1196=)
c.*3501_*3502delinsAC (n.*3501_*3502delinsAC)
c.3604_3605delinsAC (p.Thr1202=)
c.3787_3788delinsAC (p.Thr1263=)
c.*440_*441delinsAC (n.*440_*441delinsAC)
c.*448_*449delinsAC (n.*448_*449delinsAC)
c.*2162_*2163delinsAC (n.*2162_*2163delinsAC)
c.3781_3782delinsAC (p.Thr1261=)
c.*3611_*3612delinsAC (n.*3611_*3612delinsAC)
c.3361_3362delinsAC (p.Thr1121=)
c.535_536delinsAC (p.Thr179=)
c.1574_1575delinsAC (n.1574_1575delinsAC)
c.369_370delinsAC
c.1237_1238delinsAC
c.3697_3698delinsAC (p.Thr1233=)
c.3877_3878delinsAC (p.Thr1293=)
c.3544_3545delinsAC (p.Thr1182=)
7g.117642508delCA577224042CFTRc.3588del (p.Ter1197GluextTer?)
c.*3502del (n.*3502del)
c.3605del (p.Thr1202MetfsTer15)
c.3788del (p.Thr1263MetfsTer15)
c.*441del (n.*441del)
c.*449del (n.*449del)
c.*2163del (n.*2163del)
c.3782del (p.Thr1261MetfsTer15)
c.*3612del (n.*3612del)
c.3362del (p.Thr1121MetfsTer15)
c.536del (p.Thr179MetfsTer15)
c.1575del (n.1575del)
c.370del
c.1238del
c.3698del (p.Thr1233MetfsTer15)
c.3878del (p.Thr1293MetfsTer15)
c.3545del (p.Thr1182MetfsTer15)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117642508C>ACA368974876CFTRc.3588C>A (p.His1196Gln)
c.*3502C>A (n.*3502C>A)
c.3605C>A (p.Thr1202Asn)
c.3788C>A (p.Thr1263Asn)
c.*441C>A (n.*441C>A)
c.*449C>A (n.*449C>A)
c.*2163C>A (n.*2163C>A)
c.3782C>A (p.Thr1261Asn)
c.*3612C>A (n.*3612C>A)
c.3362C>A (p.Thr1121Asn)
c.536C>A (p.Thr179Asn)
c.1575C>A (n.1575C>A)
c.370C>A
c.1238C>A
c.3698C>A (p.Thr1233Asn)
c.3878C>A (p.Thr1293Asn)
c.3545C>A (p.Thr1182Asn)
7g.117642508C=CA1737404770CFTRc.3588C= (p.His1196=)
c.*3502C= (n.*3502C=)
c.3605C= (p.Thr1202=)
c.3788C= (p.Thr1263=)
c.*441C= (n.*441C=)
c.*449C= (n.*449C=)
c.*2163C= (n.*2163C=)
c.3782C= (p.Thr1261=)
c.*3612C= (n.*3612C=)
c.3362C= (p.Thr1121=)
c.536C= (p.Thr179=)
c.1575C= (n.1575C=)
c.370C=
c.1238C=
c.3698C= (p.Thr1233=)
c.3878C= (p.Thr1293=)
c.3545C= (p.Thr1182=)
7g.117642508C>GCA368974884CFTRc.3588C>G (p.His1196Gln)
c.*3502C>G (n.*3502C>G)
c.3605C>G (p.Thr1202Ser)
c.3788C>G (p.Thr1263Ser)
c.*441C>G (n.*441C>G)
c.*449C>G (n.*449C>G)
c.*2163C>G (n.*2163C>G)
c.3782C>G (p.Thr1261Ser)
c.*3612C>G (n.*3612C>G)
c.3362C>G (p.Thr1121Ser)
c.536C>G (p.Thr179Ser)
c.1575C>G (n.1575C>G)
c.370C>G
c.1238C>G
c.3698C>G (p.Thr1233Ser)
c.3878C>G (p.Thr1293Ser)
c.3545C>G (p.Thr1182Ser)
7g.117642508C>TCA4451545CFTRc.3588C>T (p.His1196=)
c.*3502C>T (n.*3502C>T)
c.3605C>T (p.Thr1202Ile)
c.3788C>T (p.Thr1263Ile)
c.*441C>T (n.*441C>T)
c.*449C>T (n.*449C>T)
c.*2163C>T (n.*2163C>T)
c.3782C>T (p.Thr1261Ile)
c.*3612C>T (n.*3612C>T)
c.3362C>T (p.Thr1121Ile)
c.536C>T (p.Thr179Ile)
c.1575C>T (n.1575C>T)
c.370C>T
c.1238C>T
c.3698C>T (p.Thr1233Ile)
c.3878C>T (p.Thr1293Ile)
c.3545C>T (p.Thr1182Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117642509T>ACA457228176CFTRc.3589T>A (p.Ter1197Arg)
c.*3503T>A (n.*3503T>A)
c.3606T>A (p.Thr1202=)
c.3789T>A (p.Thr1263=)
c.*442T>A (n.*442T>A)
c.*450T>A (n.*450T>A)
c.*2164T>A (n.*2164T>A)
c.3783T>A (p.Thr1261=)
c.*3613T>A (n.*3613T>A)
c.3363T>A (p.Thr1121=)
c.537T>A (p.Thr179=)
c.1576T>A (n.1576T>A)
c.371T>A
c.1239T>A
c.3699T>A (p.Thr1233=)
c.3879T>A (p.Thr1293=)
c.3546T>A (p.Thr1182=)
7g.117642509T>CCA4451546CFTRc.3589T>C (p.Ter1197Arg)
c.*3503T>C (n.*3503T>C)
c.3606T>C (p.Thr1202=)
c.3789T>C (p.Thr1263=)
c.*442T>C (n.*442T>C)
c.*450T>C (n.*450T>C)
c.*2164T>C (n.*2164T>C)
c.3783T>C (p.Thr1261=)
c.*3613T>C (n.*3613T>C)
c.3363T>C (p.Thr1121=)
c.537T>C (p.Thr179=)
c.1576T>C (n.1576T>C)
c.371T>C
c.1239T>C
c.3699T>C (p.Thr1233=)
c.3879T>C (p.Thr1293=)
c.3546T>C (p.Thr1182=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642509T>GCA457228179CFTRc.3589T>G (p.Ter1197Gly)
c.*3503T>G (n.*3503T>G)
c.3606T>G (p.Thr1202=)
c.3789T>G (p.Thr1263=)
c.*442T>G (n.*442T>G)
c.*450T>G (n.*450T>G)
c.*2164T>G (n.*2164T>G)
c.3783T>G (p.Thr1261=)
c.*3613T>G (n.*3613T>G)
c.3363T>G (p.Thr1121=)
c.537T>G (p.Thr179=)
c.1576T>G (n.1576T>G)
c.371T>G
c.1239T>G
c.3699T>G (p.Thr1233=)
c.3879T>G (p.Thr1293=)
c.3546T>G (p.Thr1182=)
7g.117642509T=CA1737404771CFTRc.3589T= (p.Ter1197=)
c.*3503T= (n.*3503T=)
c.3606T= (p.Thr1202=)
c.3789T= (p.Thr1263=)
c.*442T= (n.*442T=)
c.*450T= (n.*450T=)
c.*2164T= (n.*2164T=)
c.3783T= (p.Thr1261=)
c.*3613T= (n.*3613T=)
c.3363T= (p.Thr1121=)
c.537T= (p.Thr179=)
c.1576T= (n.1576T=)
c.371T=
c.1239T=
c.3699T= (p.Thr1233=)
c.3879T= (p.Thr1293=)
c.3546T= (p.Thr1182=)
7g.117642510G>ACA368974900CFTRc.3590G>A (p.Ter1197=)
c.*3504G>A (n.*3504G>A)
c.3607G>A (p.Glu1203Lys)
c.3790G>A (p.Glu1264Lys)
c.*443G>A (n.*443G>A)
c.*451G>A (n.*451G>A)
c.*2165G>A (n.*2165G>A)
c.3784G>A (p.Glu1262Lys)
c.*3614G>A (n.*3614G>A)
c.3364G>A (p.Glu1122Lys)
c.538G>A (p.Glu180Lys)
c.1577G>A (n.1577G>A)
c.372G>A
c.1240G>A
c.3700G>A (p.Glu1234Lys)
c.3880G>A (p.Glu1294Lys)
c.3547G>A (p.Glu1183Lys)
7g.117642510G>CCA368974904CFTRc.3590G>C (p.Ter1197Ser)
c.*3504G>C (n.*3504G>C)
c.3607G>C (p.Glu1203Gln)
c.3790G>C (p.Glu1264Gln)
c.*443G>C (n.*443G>C)
c.*451G>C (n.*451G>C)
c.*2165G>C (n.*2165G>C)
c.3784G>C (p.Glu1262Gln)
c.*3614G>C (n.*3614G>C)
c.3364G>C (p.Glu1122Gln)
c.538G>C (p.Glu180Gln)
c.1577G>C (n.1577G>C)
c.372G>C
c.1240G>C
c.3700G>C (p.Glu1234Gln)
c.3880G>C (p.Glu1294Gln)
c.3547G>C (p.Glu1183Gln)
7g.117642510G>TCA368974906CFTRc.3590G>T (p.Ter1197Leu)
c.*3504G>T (n.*3504G>T)
c.3607G>T (p.Glu1203Ter)
c.3790G>T (p.Glu1264Ter)
c.*443G>T (n.*443G>T)
c.*451G>T (n.*451G>T)
c.*2165G>T (n.*2165G>T)
c.3784G>T (p.Glu1262Ter)
c.*3614G>T (n.*3614G>T)
c.3364G>T (p.Glu1122Ter)
c.538G>T (p.Glu180Ter)
c.1577G>T (n.1577G>T)
c.372G>T
c.1240G>T
c.3700G>T (p.Glu1234Ter)
c.3880G>T (p.Glu1294Ter)
c.3547G>T (p.Glu1183Ter)
7g.117642510_117642519delinsCCA2695205219CFTRc.3590_*8delinsC (n.[c.3590_*8delinsC;Ter1197SerextTer?])
c.*3504_*3513delinsC (n.*3504_*3513delinsC)
c.3607_3616delinsC (p.Glu1203_Ile1206delinsLeu)
c.3790_3799delinsC (p.Glu1264_Ile1267delinsLeu)
c.*443_*452delinsC (n.*443_*452delinsC)
c.*451_*460delinsC (n.*451_*460delinsC)
c.*2165_*2174delinsC (n.*2165_*2174delinsC)
c.3784_3793delinsC (p.Glu1262_Ile1265delinsLeu)
c.*3614_*3623delinsC (n.*3614_*3623delinsC)
c.3364_3373delinsC (p.Glu1122_Ile1125delinsLeu)
c.538_547delinsC (p.Glu180_Ile183delinsLeu)
c.1577_1586delinsC (n.1577_1586delinsC)
c.372_381delinsC
c.1240_1249delinsC
c.3700_3709delinsC (p.Glu1234_Ile1237delinsLeu)
c.3880_3889delinsC (p.Glu1294_Ile1297delinsLeu)
c.3547_3556delinsC (p.Glu1183_Ile1186delinsLeu)
7g.117642511A=CA1737404772CFTRc.3591A= (p.Ter1197=)
c.*3505A= (n.*3505A=)
c.3608A= (p.Glu1203=)
c.3791A= (p.Glu1264=)
c.*444A= (n.*444A=)
c.*452A= (n.*452A=)
c.*2166A= (n.*2166A=)
c.3785A= (p.Glu1262=)
c.*3615A= (n.*3615A=)
c.3365A= (p.Glu1122=)
c.539A= (p.Glu180=)
c.1578A= (n.1578A=)
c.373A=
c.1241A=
c.3701A= (p.Glu1234=)
c.3881A= (p.Glu1294=)
c.3548A= (p.Glu1183=)
7g.117642511A>CCA368974910CFTRc.3591A>C (p.Ter1197Cys)
c.*3505A>C (n.*3505A>C)
c.3608A>C (p.Glu1203Ala)
c.3791A>C (p.Glu1264Ala)
c.*444A>C (n.*444A>C)
c.*452A>C (n.*452A>C)
c.*2166A>C (n.*2166A>C)
c.3785A>C (p.Glu1262Ala)
c.*3615A>C (n.*3615A>C)
c.3365A>C (p.Glu1122Ala)
c.539A>C (p.Glu180Ala)
c.1578A>C (n.1578A>C)
c.373A>C
c.1241A>C
c.3701A>C (p.Glu1234Ala)
c.3881A>C (p.Glu1294Ala)
c.3548A>C (p.Glu1183Ala)
7g.117642511A>GCA368974921CFTRc.3591A>G (p.Ter1197Trp)
c.*3505A>G (n.*3505A>G)
c.3608A>G (p.Glu1203Gly)
c.3791A>G (p.Glu1264Gly)
c.*444A>G (n.*444A>G)
c.*452A>G (n.*452A>G)
c.*2166A>G (n.*2166A>G)
c.3785A>G (p.Glu1262Gly)
c.*3615A>G (n.*3615A>G)
c.3365A>G (p.Glu1122Gly)
c.539A>G (p.Glu180Gly)
c.1578A>G (n.1578A>G)
c.373A>G
c.1241A>G
c.3701A>G (p.Glu1234Gly)
c.3881A>G (p.Glu1294Gly)
c.3548A>G (p.Glu1183Gly)
 dbSNP gnomAD v2 gnomAD v4
7g.117642511A>TCA368974912CFTRc.3591A>T (p.Ter1197Cys)
c.*3505A>T (n.*3505A>T)
c.3608A>T (p.Glu1203Val)
c.3791A>T (p.Glu1264Val)
c.*444A>T (n.*444A>T)
c.*452A>T (n.*452A>T)
c.*2166A>T (n.*2166A>T)
c.3785A>T (p.Glu1262Val)
c.*3615A>T (n.*3615A>T)
c.3365A>T (p.Glu1122Val)
c.539A>T (p.Glu180Val)
c.1578A>T (n.1578A>T)
c.373A>T
c.1241A>T
c.3701A>T (p.Glu1234Val)
c.3881A>T (p.Glu1294Val)
c.3548A>T (p.Glu1183Val)
7g.117642512delCA2739279629CFTRc.*1del (n.*1del)
c.*3506del (n.*3506del)
c.3609del (p.Gly1204GlufsTer13)
c.3792del (p.Gly1265GlufsTer13)
c.*445del (n.*445del)
c.*453del (n.*453del)
c.*2167del (n.*2167del)
c.3786del (p.Gly1263GlufsTer13)
c.*3616del (n.*3616del)
c.3366del (p.Gly1123GlufsTer13)
c.540del (p.Gly181GlufsTer13)
c.1579del (n.1579del)
c.374del
c.1242del
c.3702del (p.Gly1235GlufsTer13)
c.3882del (p.Gly1295GlufsTer13)
c.3549del (p.Gly1184GlufsTer13)
 ClinVar
7g.117642512A=CA1737404773CFTRc.*1A= (n.*1A=)
c.*3506A= (n.*3506A=)
c.3609A= (p.Glu1203=)
c.3792A= (p.Glu1264=)
c.*445A= (n.*445A=)
c.*453A= (n.*453A=)
c.*2167A= (n.*2167A=)
c.3786A= (p.Glu1262=)
c.*3616A= (n.*3616A=)
c.3366A= (p.Glu1122=)
c.540A= (p.Glu180=)
c.1579A= (n.1579A=)
c.374A=
c.1242A=
c.3702A= (p.Glu1234=)
c.3882A= (p.Glu1294=)
c.3549A= (p.Glu1183=)
7g.117642512A>CCA368974923CFTRc.*1A>C (n.*1A>C)
c.*3506A>C (n.*3506A>C)
c.3609A>C (p.Glu1203Asp)
c.3792A>C (p.Glu1264Asp)
c.*445A>C (n.*445A>C)
c.*453A>C (n.*453A>C)
c.*2167A>C (n.*2167A>C)
c.3786A>C (p.Glu1262Asp)
c.*3616A>C (n.*3616A>C)
c.3366A>C (p.Glu1122Asp)
c.540A>C (p.Glu180Asp)
c.1579A>C (n.1579A>C)
c.374A>C
c.1242A>C
c.3702A>C (p.Glu1234Asp)
c.3882A>C (p.Glu1294Asp)
c.3549A>C (p.Glu1183Asp)
7g.117642512A>GCA457228188CFTRc.*1A>G (n.*1A>G)
c.*3506A>G (n.*3506A>G)
c.3609A>G (p.Glu1203=)
c.3792A>G (p.Glu1264=)
c.*445A>G (n.*445A>G)
c.*453A>G (n.*453A>G)
c.*2167A>G (n.*2167A>G)
c.3786A>G (p.Glu1262=)
c.*3616A>G (n.*3616A>G)
c.3366A>G (p.Glu1122=)
c.540A>G (p.Glu180=)
c.1579A>G (n.1579A>G)
c.374A>G
c.1242A>G
c.3702A>G (p.Glu1234=)
c.3882A>G (p.Glu1294=)
c.3549A>G (p.Glu1183=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117642512A>TCA368974933CFTRc.*1A>T (n.*1A>T)
c.*3506A>T (n.*3506A>T)
c.3609A>T (p.Glu1203Asp)
c.3792A>T (p.Glu1264Asp)
c.*445A>T (n.*445A>T)
c.*453A>T (n.*453A>T)
c.*2167A>T (n.*2167A>T)
c.3786A>T (p.Glu1262Asp)
c.*3616A>T (n.*3616A>T)
c.3366A>T (p.Glu1122Asp)
c.540A>T (p.Glu180Asp)
c.1579A>T (n.1579A>T)
c.374A>T
c.1242A>T
c.3702A>T (p.Glu1234Asp)
c.3882A>T (p.Glu1294Asp)
c.3549A>T (p.Glu1183Asp)
7g.117642513G>ACA368974938CFTRc.*2G>A (n.*2G>A)
c.*3507G>A (n.*3507G>A)
c.3610G>A (p.Gly1204Arg)
c.3793G>A (p.Gly1265Arg)
c.*446G>A (n.*446G>A)
c.*454G>A (n.*454G>A)
c.*2168G>A (n.*2168G>A)
c.3787G>A (p.Gly1263Arg)
c.*3617G>A (n.*3617G>A)
c.3367G>A (p.Gly1123Arg)
c.541G>A (p.Gly181Arg)
c.1580G>A (n.1580G>A)
c.375G>A
c.1243G>A
c.3703G>A (p.Gly1235Arg)
c.3883G>A (p.Gly1295Arg)
c.3550G>A (p.Gly1184Arg)
 ClinVar gnomAD v4
7g.117642513G>CCA368974958CFTRc.*2G>C (n.*2G>C)
c.*3507G>C (n.*3507G>C)
c.3610G>C (p.Gly1204Arg)
c.3793G>C (p.Gly1265Arg)
c.*446G>C (n.*446G>C)
c.*454G>C (n.*454G>C)
c.*2168G>C (n.*2168G>C)
c.3787G>C (p.Gly1263Arg)
c.*3617G>C (n.*3617G>C)
c.3367G>C (p.Gly1123Arg)
c.541G>C (p.Gly181Arg)
c.1580G>C (n.1580G>C)
c.375G>C
c.1243G>C
c.3703G>C (p.Gly1235Arg)
c.3883G>C (p.Gly1295Arg)
c.3550G>C (p.Gly1184Arg)
7g.117642513G>TCA368974961CFTRc.*2G>T (n.*2G>T)
c.*3507G>T (n.*3507G>T)
c.3610G>T (p.Gly1204Ter)
c.3793G>T (p.Gly1265Ter)
c.*446G>T (n.*446G>T)
c.*454G>T (n.*454G>T)
c.*2168G>T (n.*2168G>T)
c.3787G>T (p.Gly1263Ter)
c.*3617G>T (n.*3617G>T)
c.3367G>T (p.Gly1123Ter)
c.541G>T (p.Gly181Ter)
c.1580G>T (n.1580G>T)
c.375G>T
c.1243G>T
c.3703G>T (p.Gly1235Ter)
c.3883G>T (p.Gly1295Ter)
c.3550G>T (p.Gly1184Ter)
 ClinVar
7g.117642514G>ACA368974973CFTRc.*3G>A (n.*3G>A)
c.*3508G>A (n.*3508G>A)
c.3611G>A (p.Gly1204Glu)
c.3794G>A (p.Gly1265Glu)
c.*447G>A (n.*447G>A)
c.*455G>A (n.*455G>A)
c.*2169G>A (n.*2169G>A)
c.3788G>A (p.Gly1263Glu)
c.*3618G>A (n.*3618G>A)
c.3368G>A (p.Gly1123Glu)
c.542G>A (p.Gly181Glu)
c.1581G>A (n.1581G>A)
c.376G>A
c.1244G>A
c.3704G>A (p.Gly1235Glu)
c.3884G>A (p.Gly1295Glu)
c.3551G>A (p.Gly1184Glu)
 ClinVar dbSNP gnomAD v4 COSMIC
7g.117642514G>CCA368974977CFTRc.*3G>C (n.*3G>C)
c.*3508G>C (n.*3508G>C)
c.3611G>C (p.Gly1204Ala)
c.3794G>C (p.Gly1265Ala)
c.*447G>C (n.*447G>C)
c.*455G>C (n.*455G>C)
c.*2169G>C (n.*2169G>C)
c.3788G>C (p.Gly1263Ala)
c.*3618G>C (n.*3618G>C)
c.3368G>C (p.Gly1123Ala)
c.542G>C (p.Gly181Ala)
c.1581G>C (n.1581G>C)
c.376G>C
c.1244G>C
c.3704G>C (p.Gly1235Ala)
c.3884G>C (p.Gly1295Ala)
c.3551G>C (p.Gly1184Ala)
7g.117642514G=CA1737404774CFTRc.*3G= (n.*3G=)
c.*3508G= (n.*3508G=)
c.3611G= (p.Gly1204=)
c.3794G= (p.Gly1265=)
c.*447G= (n.*447G=)
c.*455G= (n.*455G=)
c.*2169G= (n.*2169G=)
c.3788G= (p.Gly1263=)
c.*3618G= (n.*3618G=)
c.3368G= (p.Gly1123=)
c.542G= (p.Gly181=)
c.1581G= (n.1581G=)
c.376G=
c.1244G=
c.3704G= (p.Gly1235=)
c.3884G= (p.Gly1295=)
c.3551G= (p.Gly1184=)
7g.117642514G>TCA368974979CFTRc.*3G>T (n.*3G>T)
c.*3508G>T (n.*3508G>T)
c.3611G>T (p.Gly1204Val)
c.3794G>T (p.Gly1265Val)
c.*447G>T (n.*447G>T)
c.*455G>T (n.*455G>T)
c.*2169G>T (n.*2169G>T)
c.3788G>T (p.Gly1263Val)
c.*3618G>T (n.*3618G>T)
c.3368G>T (p.Gly1123Val)
c.542G>T (p.Gly181Val)
c.1581G>T (n.1581G>T)
c.376G>T
c.1244G>T
c.3704G>T (p.Gly1235Val)
c.3884G>T (p.Gly1295Val)
c.3551G>T (p.Gly1184Val)
 ClinVar dbSNP
7g.117642516_117642517dupCA2695205220CFTRc.*5_*6dup (n.*5_*6dup)
c.*3510_*3511dup (n.*3510_*3511dup)
c.3613_3614dup (p.Ile1206LysfsTer12)
c.3796_3797dup (p.Ile1267LysfsTer12)
c.*449_*450dup (n.*449_*450dup)
c.*457_*458dup (n.*457_*458dup)
c.*2171_*2172dup (n.*2171_*2172dup)
c.3790_3791dup (p.Ile1265LysfsTer12)
c.*3620_*3621dup (n.*3620_*3621dup)
c.3370_3371dup (p.Ile1125LysfsTer12)
c.544_545dup (p.Ile183LysfsTer12)
c.1583_1584dup (n.1583_1584dup)
c.378_379dup
c.1246_1247dup
c.3706_3707dup (p.Ile1237LysfsTer12)
c.3886_3887dup (p.Ile1297LysfsTer12)
c.3553_3554dup (p.Ile1186LysfsTer12)
7g.117642515delCA2580076354CFTRc.*4del (n.*4del)
c.*3509del (n.*3509del)
c.3612del (p.Glu1205LysfsTer12)
c.3795del (p.Glu1266LysfsTer12)
c.*448del (n.*448del)
c.*456del (n.*456del)
c.*2170del (n.*2170del)
c.3789del (p.Glu1264LysfsTer12)
c.*3619del (n.*3619del)
c.3369del (p.Glu1124LysfsTer12)
c.543del (p.Glu182LysfsTer12)
c.1582del (n.1582del)
c.377del
c.1245del
c.3705del (p.Glu1236LysfsTer12)
c.3885del (p.Glu1296LysfsTer12)
c.3552del (p.Glu1185LysfsTer12)
 ClinVar
7g.117642515A>CCA457228204CFTRc.*4A>C (n.*4A>C)
c.*3509A>C (n.*3509A>C)
c.3612A>C (p.Gly1204=)
c.3795A>C (p.Gly1265=)
c.*448A>C (n.*448A>C)
c.*456A>C (n.*456A>C)
c.*2170A>C (n.*2170A>C)
c.3789A>C (p.Gly1263=)
c.*3619A>C (n.*3619A>C)
c.3369A>C (p.Gly1123=)
c.543A>C (p.Gly181=)
c.1582A>C (n.1582A>C)
c.377A>C
c.1245A>C
c.3705A>C (p.Gly1235=)
c.3885A>C (p.Gly1295=)
c.3552A>C (p.Gly1184=)
7g.117642515A>GCA457228199CFTRc.*4A>G (n.*4A>G)
c.*3509A>G (n.*3509A>G)
c.3612A>G (p.Gly1204=)
c.3795A>G (p.Gly1265=)
c.*448A>G (n.*448A>G)
c.*456A>G (n.*456A>G)
c.*2170A>G (n.*2170A>G)
c.3789A>G (p.Gly1263=)
c.*3619A>G (n.*3619A>G)
c.3369A>G (p.Gly1123=)
c.543A>G (p.Gly181=)
c.1582A>G (n.1582A>G)
c.377A>G
c.1245A>G
c.3705A>G (p.Gly1235=)
c.3885A>G (p.Gly1295=)
c.3552A>G (p.Gly1184=)
 COSMIC
7g.117642515A>TCA457228201CFTRc.*4A>T (n.*4A>T)
c.*3509A>T (n.*3509A>T)
c.3612A>T (p.Gly1204=)
c.3795A>T (p.Gly1265=)
c.*448A>T (n.*448A>T)
c.*456A>T (n.*456A>T)
c.*2170A>T (n.*2170A>T)
c.3789A>T (p.Gly1263=)
c.*3619A>T (n.*3619A>T)
c.3369A>T (p.Gly1123=)
c.543A>T (p.Gly181=)
c.1582A>T (n.1582A>T)
c.377A>T
c.1245A>T
c.3705A>T (p.Gly1235=)
c.3885A>T (p.Gly1295=)
c.3552A>T (p.Gly1184=)
7g.117642516G>ACA368974983CFTRc.*5G>A (n.*5G>A)
c.*3510G>A (n.*3510G>A)
c.3613G>A (p.Glu1205Lys)
c.3796G>A (p.Glu1266Lys)
c.*449G>A (n.*449G>A)
c.*457G>A (n.*457G>A)
c.*2171G>A (n.*2171G>A)
c.3790G>A (p.Glu1264Lys)
c.*3620G>A (n.*3620G>A)
c.3370G>A (p.Glu1124Lys)
c.544G>A (p.Glu182Lys)
c.1583G>A (n.1583G>A)
c.378G>A
c.1246G>A
c.3706G>A (p.Glu1236Lys)
c.3886G>A (p.Glu1296Lys)
c.3553G>A (p.Glu1185Lys)
 gnomAD v4
7g.117642516G>CCA368974985CFTRc.*5G>C (n.*5G>C)
c.*3510G>C (n.*3510G>C)
c.3613G>C (p.Glu1205Gln)
c.3796G>C (p.Glu1266Gln)
c.*449G>C (n.*449G>C)
c.*457G>C (n.*457G>C)
c.*2171G>C (n.*2171G>C)
c.3790G>C (p.Glu1264Gln)
c.*3620G>C (n.*3620G>C)
c.3370G>C (p.Glu1124Gln)
c.544G>C (p.Glu182Gln)
c.1583G>C (n.1583G>C)
c.378G>C
c.1246G>C
c.3706G>C (p.Glu1236Gln)
c.3886G>C (p.Glu1296Gln)
c.3553G>C (p.Glu1185Gln)
7g.117642516G=CA1737404775CFTRc.*5G= (n.*5G=)
c.*3510G= (n.*3510G=)
c.3613G= (p.Glu1205=)
c.3796G= (p.Glu1266=)
c.*449G= (n.*449G=)
c.*457G= (n.*457G=)
c.*2171G= (n.*2171G=)
c.3790G= (p.Glu1264=)
c.*3620G= (n.*3620G=)
c.3370G= (p.Glu1124=)
c.544G= (p.Glu182=)
c.1583G= (n.1583G=)
c.378G=
c.1246G=
c.3706G= (p.Glu1236=)
c.3886G= (p.Glu1296=)
c.3553G= (p.Glu1185=)
7g.117642516G>TCA368974987CFTRc.*5G>T (n.*5G>T)
c.*3510G>T (n.*3510G>T)
c.3613G>T (p.Glu1205Ter)
c.3796G>T (p.Glu1266Ter)
c.*449G>T (n.*449G>T)
c.*457G>T (n.*457G>T)
c.*2171G>T (n.*2171G>T)
c.3790G>T (p.Glu1264Ter)
c.*3620G>T (n.*3620G>T)
c.3370G>T (p.Glu1124Ter)
c.544G>T (p.Glu182Ter)
c.1583G>T (n.1583G>T)
c.378G>T
c.1246G>T
c.3706G>T (p.Glu1236Ter)
c.3886G>T (p.Glu1296Ter)
c.3553G>T (p.Glu1185Ter)
 ClinVar dbSNP
7g.117642517A=CA1737404776CFTRc.*6A= (n.*6A=)
c.*3511A= (n.*3511A=)
c.3614A= (p.Glu1205=)
c.3797A= (p.Glu1266=)
c.*450A= (n.*450A=)
c.*458A= (n.*458A=)
c.*2172A= (n.*2172A=)
c.3791A= (p.Glu1264=)
c.*3621A= (n.*3621A=)
c.3371A= (p.Glu1124=)
c.545A= (p.Glu182=)
c.1584A= (n.1584A=)
c.379A=
c.1247A=
c.3707A= (p.Glu1236=)
c.3887A= (p.Glu1296=)
c.3554A= (p.Glu1185=)
7g.117642517A>CCA368974988CFTRc.*6A>C (n.*6A>C)
c.*3511A>C (n.*3511A>C)
c.3614A>C (p.Glu1205Ala)
c.3797A>C (p.Glu1266Ala)
c.*450A>C (n.*450A>C)
c.*458A>C (n.*458A>C)
c.*2172A>C (n.*2172A>C)
c.3791A>C (p.Glu1264Ala)
c.*3621A>C (n.*3621A>C)
c.3371A>C (p.Glu1124Ala)
c.545A>C (p.Glu182Ala)
c.1584A>C (n.1584A>C)
c.379A>C
c.1247A>C
c.3707A>C (p.Glu1236Ala)
c.3887A>C (p.Glu1296Ala)
c.3554A>C (p.Glu1185Ala)
7g.117642517A>GCA368974992CFTRc.*6A>G (n.*6A>G)
c.*3511A>G (n.*3511A>G)
c.3614A>G (p.Glu1205Gly)
c.3797A>G (p.Glu1266Gly)
c.*450A>G (n.*450A>G)
c.*458A>G (n.*458A>G)
c.*2172A>G (n.*2172A>G)
c.3791A>G (p.Glu1264Gly)
c.*3621A>G (n.*3621A>G)
c.3371A>G (p.Glu1124Gly)
c.545A>G (p.Glu182Gly)
c.1584A>G (n.1584A>G)
c.379A>G
c.1247A>G
c.3707A>G (p.Glu1236Gly)
c.3887A>G (p.Glu1296Gly)
c.3554A>G (p.Glu1185Gly)
 ClinVar dbSNP
7g.117642517A>TCA368974990CFTRc.*6A>T (n.*6A>T)
c.*3511A>T (n.*3511A>T)
c.3614A>T (p.Glu1205Val)
c.3797A>T (p.Glu1266Val)
c.*450A>T (n.*450A>T)
c.*458A>T (n.*458A>T)
c.*2172A>T (n.*2172A>T)
c.3791A>T (p.Glu1264Val)
c.*3621A>T (n.*3621A>T)
c.3371A>T (p.Glu1124Val)
c.545A>T (p.Glu182Val)
c.1584A>T (n.1584A>T)
c.379A>T
c.1247A>T
c.3707A>T (p.Glu1236Val)
c.3887A>T (p.Glu1296Val)
c.3554A>T (p.Glu1185Val)
7g.117642518A>CCA368974996CFTRc.*7A>C (n.*7A>C)
c.*3512A>C (n.*3512A>C)
c.3615A>C (p.Glu1205Asp)
c.3798A>C (p.Glu1266Asp)
c.*451A>C (n.*451A>C)
c.*459A>C (n.*459A>C)
c.*2173A>C (n.*2173A>C)
c.3792A>C (p.Glu1264Asp)
c.*3622A>C (n.*3622A>C)
c.3372A>C (p.Glu1124Asp)
c.546A>C (p.Glu182Asp)
c.1585A>C (n.1585A>C)
c.380A>C
c.1248A>C
c.3708A>C (p.Glu1236Asp)
c.3888A>C (p.Glu1296Asp)
c.3555A>C (p.Glu1185Asp)
7g.117642518A>GCA457228217CFTRc.*7A>G (n.*7A>G)
c.*3512A>G (n.*3512A>G)
c.3615A>G (p.Glu1205=)
c.3798A>G (p.Glu1266=)
c.*451A>G (n.*451A>G)
c.*459A>G (n.*459A>G)
c.*2173A>G (n.*2173A>G)
c.3792A>G (p.Glu1264=)
c.*3622A>G (n.*3622A>G)
c.3372A>G (p.Glu1124=)
c.546A>G (p.Glu182=)
c.1585A>G (n.1585A>G)
c.380A>G
c.1248A>G
c.3708A>G (p.Glu1236=)
c.3888A>G (p.Glu1296=)
c.3555A>G (p.Glu1185=)
 ClinVar gnomAD v4
7g.117642518A>TCA368974998CFTRc.*7A>T (n.*7A>T)
c.*3512A>T (n.*3512A>T)
c.3615A>T (p.Glu1205Asp)
c.3798A>T (p.Glu1266Asp)
c.*451A>T (n.*451A>T)
c.*459A>T (n.*459A>T)
c.*2173A>T (n.*2173A>T)
c.3792A>T (p.Glu1264Asp)
c.*3622A>T (n.*3622A>T)
c.3372A>T (p.Glu1124Asp)
c.546A>T (p.Glu182Asp)
c.1585A>T (n.1585A>T)
c.380A>T
c.1248A>T
c.3708A>T (p.Glu1236Asp)
c.3888A>T (p.Glu1296Asp)
c.3555A>T (p.Glu1185Asp)
7g.117642519A>CCA368975001CFTRc.*8A>C (n.*8A>C)
c.*3513A>C (n.*3513A>C)
c.3616A>C (p.Ile1206Leu)
c.3799A>C (p.Ile1267Leu)
c.*452A>C (n.*452A>C)
c.*460A>C (n.*460A>C)
c.*2174A>C (n.*2174A>C)
c.3793A>C (p.Ile1265Leu)
c.*3623A>C (n.*3623A>C)
c.3373A>C (p.Ile1125Leu)
c.547A>C (p.Ile183Leu)
c.1586A>C (n.1586A>C)
c.381A>C
c.1249A>C
c.3709A>C (p.Ile1237Leu)
c.3889A>C (p.Ile1297Leu)
c.3556A>C (p.Ile1186Leu)
7g.117642519A>GCA368975003CFTRc.*8A>G (n.*8A>G)
c.*3513A>G (n.*3513A>G)
c.3616A>G (p.Ile1206Val)
c.3799A>G (p.Ile1267Val)
c.*452A>G (n.*452A>G)
c.*460A>G (n.*460A>G)
c.*2174A>G (n.*2174A>G)
c.3793A>G (p.Ile1265Val)
c.*3623A>G (n.*3623A>G)
c.3373A>G (p.Ile1125Val)
c.547A>G (p.Ile183Val)
c.1586A>G (n.1586A>G)
c.381A>G
c.1249A>G
c.3709A>G (p.Ile1237Val)
c.3889A>G (p.Ile1297Val)
c.3556A>G (p.Ile1186Val)
7g.117642519A>TCA368975015CFTRc.*8A>T (n.*8A>T)
c.*3513A>T (n.*3513A>T)
c.3616A>T (p.Ile1206Phe)
c.3799A>T (p.Ile1267Phe)
c.*452A>T (n.*452A>T)
c.*460A>T (n.*460A>T)
c.*2174A>T (n.*2174A>T)
c.3793A>T (p.Ile1265Phe)
c.*3623A>T (n.*3623A>T)
c.3373A>T (p.Ile1125Phe)
c.547A>T (p.Ile183Phe)
c.1586A>T (n.1586A>T)
c.381A>T
c.1249A>T
c.3709A>T (p.Ile1237Phe)
c.3889A>T (p.Ile1297Phe)
c.3556A>T (p.Ile1186Phe)
7g.117642520T>ACA368975016CFTRc.*9T>A (n.*9T>A)
c.*3514T>A (n.*3514T>A)
c.3617T>A (p.Ile1206Asn)
c.3800T>A (p.Ile1267Asn)
c.*453T>A (n.*453T>A)
c.*461T>A (n.*461T>A)
c.*2175T>A (n.*2175T>A)
c.3794T>A (p.Ile1265Asn)
c.*3624T>A (n.*3624T>A)
c.3374T>A (p.Ile1125Asn)
c.548T>A (p.Ile183Asn)
c.1587T>A (n.1587T>A)
c.382T>A
c.1250T>A
c.3710T>A (p.Ile1237Asn)
c.3890T>A (p.Ile1297Asn)
c.3557T>A (p.Ile1186Asn)
 ClinVar
7g.117642520T>CCA368975019CFTRc.*9T>C (n.*9T>C)
c.*3514T>C (n.*3514T>C)
c.3617T>C (p.Ile1206Thr)
c.3800T>C (p.Ile1267Thr)
c.*453T>C (n.*453T>C)
c.*461T>C (n.*461T>C)
c.*2175T>C (n.*2175T>C)
c.3794T>C (p.Ile1265Thr)
c.*3624T>C (n.*3624T>C)
c.3374T>C (p.Ile1125Thr)
c.548T>C (p.Ile183Thr)
c.1587T>C (n.1587T>C)
c.382T>C
c.1250T>C
c.3710T>C (p.Ile1237Thr)
c.3890T>C (p.Ile1297Thr)
c.3557T>C (p.Ile1186Thr)
7g.117642520T>GCA368975021CFTRc.*9T>G (n.*9T>G)
c.*3514T>G (n.*3514T>G)
c.3617T>G (p.Ile1206Ser)
c.3800T>G (p.Ile1267Ser)
c.*453T>G (n.*453T>G)
c.*461T>G (n.*461T>G)
c.*2175T>G (n.*2175T>G)
c.3794T>G (p.Ile1265Ser)
c.*3624T>G (n.*3624T>G)
c.3374T>G (p.Ile1125Ser)
c.548T>G (p.Ile183Ser)
c.1587T>G (n.1587T>G)
c.382T>G
c.1250T>G
c.3710T>G (p.Ile1237Ser)
c.3890T>G (p.Ile1297Ser)
c.3557T>G (p.Ile1186Ser)
7g.117642521C>ACA457228226CFTRc.*10C>A (n.*10C>A)
c.*3515C>A (n.*3515C>A)
c.3618C>A (p.Ile1206=)
c.3801C>A (p.Ile1267=)
c.*454C>A (n.*454C>A)
c.*462C>A (n.*462C>A)
c.*2176C>A (n.*2176C>A)
c.3795C>A (p.Ile1265=)
c.*3625C>A (n.*3625C>A)
c.3375C>A (p.Ile1125=)
c.549C>A (p.Ile183=)
c.1588C>A (n.1588C>A)
c.383C>A
c.1251C>A
c.3711C>A (p.Ile1237=)
c.3891C>A (p.Ile1297=)
c.3558C>A (p.Ile1186=)
 ClinVar
7g.117642521C>GCA368975024CFTRc.*10C>G (n.*10C>G)
c.*3515C>G (n.*3515C>G)
c.3618C>G (p.Ile1206Met)
c.3801C>G (p.Ile1267Met)
c.*454C>G (n.*454C>G)
c.*462C>G (n.*462C>G)
c.*2176C>G (n.*2176C>G)
c.3795C>G (p.Ile1265Met)
c.*3625C>G (n.*3625C>G)
c.3375C>G (p.Ile1125Met)
c.549C>G (p.Ile183Met)
c.1588C>G (n.1588C>G)
c.383C>G
c.1251C>G
c.3711C>G (p.Ile1237Met)
c.3891C>G (p.Ile1297Met)
c.3558C>G (p.Ile1186Met)
7g.117642521C>TCA457228229CFTRc.*10C>T (n.*10C>T)
c.*3515C>T (n.*3515C>T)
c.3618C>T (p.Ile1206=)
c.3801C>T (p.Ile1267=)
c.*454C>T (n.*454C>T)
c.*462C>T (n.*462C>T)
c.*2176C>T (n.*2176C>T)
c.3795C>T (p.Ile1265=)
c.*3625C>T (n.*3625C>T)
c.3375C>T (p.Ile1125=)
c.549C>T (p.Ile183=)
c.1588C>T (n.1588C>T)
c.383C>T
c.1251C>T
c.3711C>T (p.Ile1237=)
c.3891C>T (p.Ile1297=)
c.3558C>T (p.Ile1186=)
7g.117642522C>ACA368975028CFTRc.*11C>A (n.*11C>A)
c.*3516C>A (n.*3516C>A)
c.3619C>A (p.Gln1207Lys)
c.3802C>A (p.Gln1268Lys)
c.*455C>A (n.*455C>A)
c.*463C>A (n.*463C>A)
c.*2177C>A (n.*2177C>A)
c.3796C>A (p.Gln1266Lys)
c.*3626C>A (n.*3626C>A)
c.3376C>A (p.Gln1126Lys)
c.550C>A (p.Gln184Lys)
c.1589C>A (n.1589C>A)
c.384C>A
c.1252C>A
c.3712C>A (p.Gln1238Lys)
c.3892C>A (p.Gln1298Lys)
c.3559C>A (p.Gln1187Lys)
7g.117642522C>GCA368975030CFTRc.*11C>G (n.*11C>G)
c.*3516C>G (n.*3516C>G)
c.3619C>G (p.Gln1207Glu)
c.3802C>G (p.Gln1268Glu)
c.*455C>G (n.*455C>G)
c.*463C>G (n.*463C>G)
c.*2177C>G (n.*2177C>G)
c.3796C>G (p.Gln1266Glu)
c.*3626C>G (n.*3626C>G)
c.3376C>G (p.Gln1126Glu)
c.550C>G (p.Gln184Glu)
c.1589C>G (n.1589C>G)
c.384C>G
c.1252C>G
c.3712C>G (p.Gln1238Glu)
c.3892C>G (p.Gln1298Glu)
c.3559C>G (p.Gln1187Glu)
 ClinVar
7g.117642522C>TCA368975033CFTRc.*11C>T (n.*11C>T)
c.*3516C>T (n.*3516C>T)
c.3619C>T (p.Gln1207Ter)
c.3802C>T (p.Gln1268Ter)
c.*455C>T (n.*455C>T)
c.*463C>T (n.*463C>T)
c.*2177C>T (n.*2177C>T)
c.3796C>T (p.Gln1266Ter)
c.*3626C>T (n.*3626C>T)
c.3376C>T (p.Gln1126Ter)
c.550C>T (p.Gln184Ter)
c.1589C>T (n.1589C>T)
c.384C>T
c.1252C>T
c.3712C>T (p.Gln1238Ter)
c.3892C>T (p.Gln1298Ter)
c.3559C>T (p.Gln1187Ter)
7g.117642523A=CA1737404777CFTRc.*12A= (n.*12A=)
c.*3517A= (n.*3517A=)
c.3620A= (p.Gln1207=)
c.3803A= (p.Gln1268=)
c.*456A= (n.*456A=)
c.*464A= (n.*464A=)
c.*2178A= (n.*2178A=)
c.3797A= (p.Gln1266=)
c.*3627A= (n.*3627A=)
c.3377A= (p.Gln1126=)
c.551A= (p.Gln184=)
c.1590A= (n.1590A=)
c.385A=
c.1253A=
c.3713A= (p.Gln1238=)
c.3893A= (p.Gln1298=)
c.3560A= (p.Gln1187=)
7g.117642523A>CCA368975045CFTRc.*12A>C (n.*12A>C)
c.*3517A>C (n.*3517A>C)
c.3620A>C (p.Gln1207Pro)
c.3803A>C (p.Gln1268Pro)
c.*456A>C (n.*456A>C)
c.*464A>C (n.*464A>C)
c.*2178A>C (n.*2178A>C)
c.3797A>C (p.Gln1266Pro)
c.*3627A>C (n.*3627A>C)
c.3377A>C (p.Gln1126Pro)
c.551A>C (p.Gln184Pro)
c.1590A>C (n.1590A>C)
c.385A>C
c.1253A>C
c.3713A>C (p.Gln1238Pro)
c.3893A>C (p.Gln1298Pro)
c.3560A>C (p.Gln1187Pro)
7g.117642523A>GCA4451547CFTRc.*12A>G (n.*12A>G)
c.*3517A>G (n.*3517A>G)
c.3620A>G (p.Gln1207Arg)
c.3803A>G (p.Gln1268Arg)
c.*456A>G (n.*456A>G)
c.*464A>G (n.*464A>G)
c.*2178A>G (n.*2178A>G)
c.3797A>G (p.Gln1266Arg)
c.*3627A>G (n.*3627A>G)
c.3377A>G (p.Gln1126Arg)
c.551A>G (p.Gln184Arg)
c.1590A>G (n.1590A>G)
c.385A>G
c.1253A>G
c.3713A>G (p.Gln1238Arg)
c.3893A>G (p.Gln1298Arg)
c.3560A>G (p.Gln1187Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117642523A>TCA368975042CFTRc.*12A>T (n.*12A>T)
c.*3517A>T (n.*3517A>T)
c.3620A>T (p.Gln1207Leu)
c.3803A>T (p.Gln1268Leu)
c.*456A>T (n.*456A>T)
c.*464A>T (n.*464A>T)
c.*2178A>T (n.*2178A>T)
c.3797A>T (p.Gln1266Leu)
c.*3627A>T (n.*3627A>T)
c.3377A>T (p.Gln1126Leu)
c.551A>T (p.Gln184Leu)
c.1590A>T (n.1590A>T)
c.385A>T
c.1253A>T
c.3713A>T (p.Gln1238Leu)
c.3893A>T (p.Gln1298Leu)
c.3560A>T (p.Gln1187Leu)
7g.117642524G>ACA457228238CFTRc.*13G>A (n.*13G>A)
c.*3518G>A (n.*3518G>A)
c.3621G>A (p.Gln1207=)
c.3804G>A (p.Gln1268=)
c.*457G>A (n.*457G>A)
c.*465G>A (n.*465G>A)
c.*2179G>A (n.*2179G>A)
c.3798G>A (p.Gln1266=)
c.*3628G>A (n.*3628G>A)
c.3378G>A (p.Gln1126=)
c.552G>A (p.Gln184=)
c.1591G>A (n.1591G>A)
c.386G>A
c.1254G>A
c.3714G>A (p.Gln1238=)
c.3894G>A (p.Gln1298=)
c.3561G>A (p.Gln1187=)
7g.117642524G>CCA368975049CFTRc.*13G>C (n.*13G>C)
c.*3518G>C (n.*3518G>C)
c.3621G>C (p.Gln1207His)
c.3804G>C (p.Gln1268His)
c.*457G>C (n.*457G>C)
c.*465G>C (n.*465G>C)
c.*2179G>C (n.*2179G>C)
c.3798G>C (p.Gln1266His)
c.*3628G>C (n.*3628G>C)
c.3378G>C (p.Gln1126His)
c.552G>C (p.Gln184His)
c.1591G>C (n.1591G>C)
c.386G>C
c.1254G>C
c.3714G>C (p.Gln1238His)
c.3894G>C (p.Gln1298His)
c.3561G>C (p.Gln1187His)
7g.117642524G>TCA368975053CFTRc.*13G>T (n.*13G>T)
c.*3518G>T (n.*3518G>T)
c.3621G>T (p.Gln1207His)
c.3804G>T (p.Gln1268His)
c.*457G>T (n.*457G>T)
c.*465G>T (n.*465G>T)
c.*2179G>T (n.*2179G>T)
c.3798G>T (p.Gln1266His)
c.*3628G>T (n.*3628G>T)
c.3378G>T (p.Gln1126His)
c.552G>T (p.Gln184His)
c.1591G>T (n.1591G>T)
c.386G>T
c.1254G>T
c.3714G>T (p.Gln1238His)
c.3894G>T (p.Gln1298His)
c.3561G>T (p.Gln1187His)
7g.117642525A>CCA368975056CFTRc.*14A>C (n.*14A>C)
c.*3519A>C (n.*3519A>C)
c.3622A>C (p.Ile1208Leu)
c.3805A>C (p.Ile1269Leu)
c.*458A>C (n.*458A>C)
c.*466A>C (n.*466A>C)
c.*2180A>C (n.*2180A>C)
c.3799A>C (p.Ile1267Leu)
c.*3629A>C (n.*3629A>C)
c.3379A>C (p.Ile1127Leu)
c.553A>C (p.Ile185Leu)
c.1592A>C (n.1592A>C)
c.387A>C
c.1255A>C
c.3715A>C (p.Ile1239Leu)
c.3895A>C (p.Ile1299Leu)
c.3562A>C (p.Ile1188Leu)
7g.117642525A>GCA368975059CFTRc.*14A>G (n.*14A>G)
c.*3519A>G (n.*3519A>G)
c.3622A>G (p.Ile1208Val)
c.3805A>G (p.Ile1269Val)
c.*458A>G (n.*458A>G)
c.*466A>G (n.*466A>G)
c.*2180A>G (n.*2180A>G)
c.3799A>G (p.Ile1267Val)
c.*3629A>G (n.*3629A>G)
c.3379A>G (p.Ile1127Val)
c.553A>G (p.Ile185Val)
c.1592A>G (n.1592A>G)
c.387A>G
c.1255A>G
c.3715A>G (p.Ile1239Val)
c.3895A>G (p.Ile1299Val)
c.3562A>G (p.Ile1188Val)
7g.117642525A>TCA368975068CFTRc.*14A>T (n.*14A>T)
c.*3519A>T (n.*3519A>T)
c.3622A>T (p.Ile1208Phe)
c.3805A>T (p.Ile1269Phe)
c.*458A>T (n.*458A>T)
c.*466A>T (n.*466A>T)
c.*2180A>T (n.*2180A>T)
c.3799A>T (p.Ile1267Phe)
c.*3629A>T (n.*3629A>T)
c.3379A>T (p.Ile1127Phe)
c.553A>T (p.Ile185Phe)
c.1592A>T (n.1592A>T)
c.387A>T
c.1255A>T
c.3715A>T (p.Ile1239Phe)
c.3895A>T (p.Ile1299Phe)
c.3562A>T (p.Ile1188Phe)
7g.117642526T>ACA368975073CFTRc.*15T>A (n.*15T>A)
c.*3520T>A (n.*3520T>A)
c.3623T>A (p.Ile1208Asn)
c.3806T>A (p.Ile1269Asn)
c.*459T>A (n.*459T>A)
c.*467T>A (n.*467T>A)
c.*2181T>A (n.*2181T>A)
c.3800T>A (p.Ile1267Asn)
c.*3630T>A (n.*3630T>A)
c.3380T>A (p.Ile1127Asn)
c.554T>A (p.Ile185Asn)
c.1593T>A (n.1593T>A)
c.388T>A
c.1256T>A
c.3716T>A (p.Ile1239Asn)
c.3896T>A (p.Ile1299Asn)
c.3563T>A (p.Ile1188Asn)
 ClinVar dbSNP gnomAD v4
7g.117642526T>CCA368975076CFTRc.*15T>C (n.*15T>C)
c.*3520T>C (n.*3520T>C)
c.3623T>C (p.Ile1208Thr)
c.3806T>C (p.Ile1269Thr)
c.*459T>C (n.*459T>C)
c.*467T>C (n.*467T>C)
c.*2181T>C (n.*2181T>C)
c.3800T>C (p.Ile1267Thr)
c.*3630T>C (n.*3630T>C)
c.3380T>C (p.Ile1127Thr)
c.554T>C (p.Ile185Thr)
c.1593T>C (n.1593T>C)
c.388T>C
c.1256T>C
c.3716T>C (p.Ile1239Thr)
c.3896T>C (p.Ile1299Thr)
c.3563T>C (p.Ile1188Thr)
7g.117642526T>GCA368975080CFTRc.*15T>G (n.*15T>G)
c.*3520T>G (n.*3520T>G)
c.3623T>G (p.Ile1208Ser)
c.3806T>G (p.Ile1269Ser)
c.*459T>G (n.*459T>G)
c.*467T>G (n.*467T>G)
c.*2181T>G (n.*2181T>G)
c.3800T>G (p.Ile1267Ser)
c.*3630T>G (n.*3630T>G)
c.3380T>G (p.Ile1127Ser)
c.554T>G (p.Ile185Ser)
c.1593T>G (n.1593T>G)
c.388T>G
c.1256T>G
c.3716T>G (p.Ile1239Ser)
c.3896T>G (p.Ile1299Ser)
c.3563T>G (p.Ile1188Ser)
7g.117642526T=CA1737404778CFTRc.*15T= (n.*15T=)
c.*3520T= (n.*3520T=)
c.3623T= (p.Ile1208=)
c.3806T= (p.Ile1269=)
c.*459T= (n.*459T=)
c.*467T= (n.*467T=)
c.*2181T= (n.*2181T=)
c.3800T= (p.Ile1267=)
c.*3630T= (n.*3630T=)
c.3380T= (p.Ile1127=)
c.554T= (p.Ile185=)
c.1593T= (n.1593T=)
c.388T=
c.1256T=
c.3716T= (p.Ile1239=)
c.3896T= (p.Ile1299=)
c.3563T= (p.Ile1188=)
7g.117642527C>ACA457228250CFTRc.*16C>A (n.*16C>A)
c.*3521C>A (n.*3521C>A)
c.3624C>A (p.Ile1208=)
c.3807C>A (p.Ile1269=)
c.*460C>A (n.*460C>A)
c.*468C>A (n.*468C>A)
c.*2182C>A (n.*2182C>A)
c.3801C>A (p.Ile1267=)
c.*3631C>A (n.*3631C>A)
c.3381C>A (p.Ile1127=)
c.555C>A (p.Ile185=)
c.1594C>A (n.1594C>A)
c.389C>A
c.1257C>A
c.3717C>A (p.Ile1239=)
c.3897C>A (p.Ile1299=)
c.3564C>A (p.Ile1188=)
7g.117642527C=CA1737404779CFTRc.*16C= (n.*16C=)
c.*3521C= (n.*3521C=)
c.3624C= (p.Ile1208=)
c.3807C= (p.Ile1269=)
c.*460C= (n.*460C=)
c.*468C= (n.*468C=)
c.*2182C= (n.*2182C=)
c.3801C= (p.Ile1267=)
c.*3631C= (n.*3631C=)
c.3381C= (p.Ile1127=)
c.555C= (p.Ile185=)
c.1594C= (n.1594C=)
c.389C=
c.1257C=
c.3717C= (p.Ile1239=)
c.3897C= (p.Ile1299=)
c.3564C= (p.Ile1188=)
7g.117642527C>GCA4451550CFTRc.*16C>G (n.*16C>G)
c.*3521C>G (n.*3521C>G)
c.3624C>G (p.Ile1208Met)
c.3807C>G (p.Ile1269Met)
c.*460C>G (n.*460C>G)
c.*468C>G (n.*468C>G)
c.*2182C>G (n.*2182C>G)
c.3801C>G (p.Ile1267Met)
c.*3631C>G (n.*3631C>G)
c.3381C>G (p.Ile1127Met)
c.555C>G (p.Ile185Met)
c.1594C>G (n.1594C>G)
c.389C>G
c.1257C>G
c.3717C>G (p.Ile1239Met)
c.3897C>G (p.Ile1299Met)
c.3564C>G (p.Ile1188Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642527C>TCA4451548CFTRc.*16C>T (n.*16C>T)
c.*3521C>T (n.*3521C>T)
c.3624C>T (p.Ile1208=)
c.3807C>T (p.Ile1269=)
c.*460C>T (n.*460C>T)
c.*468C>T (n.*468C>T)
c.*2182C>T (n.*2182C>T)
c.3801C>T (p.Ile1267=)
c.*3631C>T (n.*3631C>T)
c.3381C>T (p.Ile1127=)
c.555C>T (p.Ile185=)
c.1594C>T (n.1594C>T)
c.389C>T
c.1257C>T
c.3717C>T (p.Ile1239=)
c.3897C>T (p.Ile1299=)
c.3564C>T (p.Ile1188=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117642527_117642528delinsCGCA1737404780CFTRc.*16_*17delinsCG (n.*16_*17delinsCG)
c.*3521_*3522delinsCG (n.*3521_*3522delinsCG)
c.3624_3625delinsCG (p.Ile1208=)
c.3807_3808delinsCG (p.Ile1269=)
c.*460_*461delinsCG (n.*460_*461delinsCG)
c.*468_*469delinsCG (n.*468_*469delinsCG)
c.*2182_*2183delinsCG (n.*2182_*2183delinsCG)
c.3801_3802delinsCG (p.Ile1267=)
c.*3631_*3632delinsCG (n.*3631_*3632delinsCG)
c.3381_3382delinsCG (p.Ile1127=)
c.555_556delinsCG (p.Ile185=)
c.1594_1595delinsCG (n.1594_1595delinsCG)
c.389_390delinsCG
c.1257_1258delinsCG
c.3717_3718delinsCG (p.Ile1239=)
c.3897_3898delinsCG (p.Ile1299=)
c.3564_3565delinsCG (p.Ile1188=)
7g.117642528delCA4451549CFTRc.*17del (n.*17del)
c.*3522del (n.*3522del)
c.3625del (p.Asp1209MetfsTer8)
c.3808del (p.Asp1270MetfsTer8)
c.*461del (n.*461del)
c.*469del (n.*469del)
c.*2183del (n.*2183del)
c.3802del (p.Asp1268MetfsTer8)
c.*3632del (n.*3632del)
c.3382del (p.Asp1128MetfsTer8)
c.556del (p.Asp186MetfsTer8)
c.1595del (n.1595del)
c.390del
c.1258del
c.3718del (p.Asp1240MetfsTer8)
c.3898del (p.Asp1300MetfsTer8)
c.3565del (p.Asp1189MetfsTer8)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117642528G>ACA254112CFTRc.*17G>A (n.*17G>A)
c.*3522G>A (n.*3522G>A)
c.3625G>A (p.Asp1209Asn)
c.3808G>A (p.Asp1270Asn)
c.*461G>A (n.*461G>A)
c.*469G>A (n.*469G>A)
c.*2183G>A (n.*2183G>A)
c.3802G>A (p.Asp1268Asn)
c.*3632G>A (n.*3632G>A)
c.3382G>A (p.Asp1128Asn)
c.556G>A (p.Asp186Asn)
c.1595G>A (n.1595G>A)
c.390G>A
c.1258G>A
c.3718G>A (p.Asp1240Asn)
c.3898G>A (p.Asp1300Asn)
c.3565G>A (p.Asp1189Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642528G>CCA368975092CFTRc.*17G>C (n.*17G>C)
c.*3522G>C (n.*3522G>C)
c.3625G>C (p.Asp1209His)
c.3808G>C (p.Asp1270His)
c.*461G>C (n.*461G>C)
c.*469G>C (n.*469G>C)
c.*2183G>C (n.*2183G>C)
c.3802G>C (p.Asp1268His)
c.*3632G>C (n.*3632G>C)
c.3382G>C (p.Asp1128His)
c.556G>C (p.Asp186His)
c.1595G>C (n.1595G>C)
c.390G>C
c.1258G>C
c.3718G>C (p.Asp1240His)
c.3898G>C (p.Asp1300His)
c.3565G>C (p.Asp1189His)
7g.117642528G=CA1737404781CFTRc.*17G= (n.*17G=)
c.*3522G= (n.*3522G=)
c.3625G= (p.Asp1209=)
c.3808G= (p.Asp1270=)
c.*461G= (n.*461G=)
c.*469G= (n.*469G=)
c.*2183G= (n.*2183G=)
c.3802G= (p.Asp1268=)
c.*3632G= (n.*3632G=)
c.3382G= (p.Asp1128=)
c.556G= (p.Asp186=)
c.1595G= (n.1595G=)
c.390G=
c.1258G=
c.3718G= (p.Asp1240=)
c.3898G= (p.Asp1300=)
c.3565G= (p.Asp1189=)
7g.117642528G>TCA327294CFTRc.*17G>T (n.*17G>T)
c.*3522G>T (n.*3522G>T)
c.3625G>T (p.Asp1209Tyr)
c.3808G>T (p.Asp1270Tyr)
c.*461G>T (n.*461G>T)
c.*469G>T (n.*469G>T)
c.*2183G>T (n.*2183G>T)
c.3802G>T (p.Asp1268Tyr)
c.*3632G>T (n.*3632G>T)
c.3382G>T (p.Asp1128Tyr)
c.556G>T (p.Asp186Tyr)
c.1595G>T (n.1595G>T)
c.390G>T
c.1258G>T
c.3718G>T (p.Asp1240Tyr)
c.3898G>T (p.Asp1300Tyr)
c.3565G>T (p.Asp1189Tyr)
 ClinVar dbSNP gnomAD v4 COSMIC
7g.117642529A=CA1737404782CFTRc.*18A= (n.*18A=)
c.*3523A= (n.*3523A=)
c.3626A= (p.Asp1209=)
c.3809A= (p.Asp1270=)
c.*462A= (n.*462A=)
c.*470A= (n.*470A=)
c.*2184A= (n.*2184A=)
c.3803A= (p.Asp1268=)
c.*3633A= (n.*3633A=)
c.3383A= (p.Asp1128=)
c.557A= (p.Asp186=)
c.1596A= (n.1596A=)
c.391A=
c.1259A=
c.3719A= (p.Asp1240=)
c.3899A= (p.Asp1300=)
c.3566A= (p.Asp1189=)
7g.117642529A>CCA368975102CFTRc.*18A>C (n.*18A>C)
c.*3523A>C (n.*3523A>C)
c.3626A>C (p.Asp1209Ala)
c.3809A>C (p.Asp1270Ala)
c.*462A>C (n.*462A>C)
c.*470A>C (n.*470A>C)
c.*2184A>C (n.*2184A>C)
c.3803A>C (p.Asp1268Ala)
c.*3633A>C (n.*3633A>C)
c.3383A>C (p.Asp1128Ala)
c.557A>C (p.Asp186Ala)
c.1596A>C (n.1596A>C)
c.391A>C
c.1259A>C
c.3719A>C (p.Asp1240Ala)
c.3899A>C (p.Asp1300Ala)
c.3566A>C (p.Asp1189Ala)
7g.117642529A>GCA4451551CFTRc.*18A>G (n.*18A>G)
c.*3523A>G (n.*3523A>G)
c.3626A>G (p.Asp1209Gly)
c.3809A>G (p.Asp1270Gly)
c.*462A>G (n.*462A>G)
c.*470A>G (n.*470A>G)
c.*2184A>G (n.*2184A>G)
c.3803A>G (p.Asp1268Gly)
c.*3633A>G (n.*3633A>G)
c.3383A>G (p.Asp1128Gly)
c.557A>G (p.Asp186Gly)
c.1596A>G (n.1596A>G)
c.391A>G
c.1259A>G
c.3719A>G (p.Asp1240Gly)
c.3899A>G (p.Asp1300Gly)
c.3566A>G (p.Asp1189Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642529A>TCA368975100CFTRc.*18A>T (n.*18A>T)
c.*3523A>T (n.*3523A>T)
c.3626A>T (p.Asp1209Val)
c.3809A>T (p.Asp1270Val)
c.*462A>T (n.*462A>T)
c.*470A>T (n.*470A>T)
c.*2184A>T (n.*2184A>T)
c.3803A>T (p.Asp1268Val)
c.*3633A>T (n.*3633A>T)
c.3383A>T (p.Asp1128Val)
c.557A>T (p.Asp186Val)
c.1596A>T (n.1596A>T)
c.391A>T
c.1259A>T
c.3719A>T (p.Asp1240Val)
c.3899A>T (p.Asp1300Val)
c.3566A>T (p.Asp1189Val)
 ClinVar
7g.117642530T>ACA368975105CFTRc.*19T>A (n.*19T>A)
c.*3524T>A (n.*3524T>A)
c.3627T>A (p.Asp1209Glu)
c.3810T>A (p.Asp1270Glu)
c.*463T>A (n.*463T>A)
c.*471T>A (n.*471T>A)
c.*2185T>A (n.*2185T>A)
c.3804T>A (p.Asp1268Glu)
c.*3634T>A (n.*3634T>A)
c.3384T>A (p.Asp1128Glu)
c.558T>A (p.Asp186Glu)
c.1597T>A (n.1597T>A)
c.392T>A
c.1260T>A
c.3720T>A (p.Asp1240Glu)
c.3900T>A (p.Asp1300Glu)
c.3567T>A (p.Asp1189Glu)
 gnomAD v4
7g.117642530T>CCA457228269CFTRc.*19T>C (n.*19T>C)
c.*3524T>C (n.*3524T>C)
c.3627T>C (p.Asp1209=)
c.3810T>C (p.Asp1270=)
c.*463T>C (n.*463T>C)
c.*471T>C (n.*471T>C)
c.*2185T>C (n.*2185T>C)
c.3804T>C (p.Asp1268=)
c.*3634T>C (n.*3634T>C)
c.3384T>C (p.Asp1128=)
c.558T>C (p.Asp186=)
c.1597T>C (n.1597T>C)
c.392T>C
c.1260T>C
c.3720T>C (p.Asp1240=)
c.3900T>C (p.Asp1300=)
c.3567T>C (p.Asp1189=)
 ClinVar
7g.117642530T>GCA368975109CFTRc.*19T>G (n.*19T>G)
c.*3524T>G (n.*3524T>G)
c.3627T>G (p.Asp1209Glu)
c.3810T>G (p.Asp1270Glu)
c.*463T>G (n.*463T>G)
c.*471T>G (n.*471T>G)
c.*2185T>G (n.*2185T>G)
c.3804T>G (p.Asp1268Glu)
c.*3634T>G (n.*3634T>G)
c.3384T>G (p.Asp1128Glu)
c.558T>G (p.Asp186Glu)
c.1597T>G (n.1597T>G)
c.392T>G
c.1260T>G
c.3720T>G (p.Asp1240Glu)
c.3900T>G (p.Asp1300Glu)
c.3567T>G (p.Asp1189Glu)
7g.117642531G>ACA368975114CFTRc.*20G>A (n.*20G>A)
c.*3525G>A (n.*3525G>A)
c.3628G>A (p.Gly1210Ser)
c.3811G>A (p.Gly1271Ser)
c.*464G>A (n.*464G>A)
c.*472G>A (n.*472G>A)
c.*2186G>A (n.*2186G>A)
c.3805G>A (p.Gly1269Ser)
c.*3635G>A (n.*3635G>A)
c.3385G>A (p.Gly1129Ser)
c.559G>A (p.Gly187Ser)
c.1598G>A (n.1598G>A)
c.393G>A
c.1261G>A
c.3721G>A (p.Gly1241Ser)
c.3901G>A (p.Gly1301Ser)
c.3568G>A (p.Gly1190Ser)
 ClinVar dbSNP
7g.117642531G>CCA368975117CFTRc.*20G>C (n.*20G>C)
c.*3525G>C (n.*3525G>C)
c.3628G>C (p.Gly1210Arg)
c.3811G>C (p.Gly1271Arg)
c.*464G>C (n.*464G>C)
c.*472G>C (n.*472G>C)
c.*2186G>C (n.*2186G>C)
c.3805G>C (p.Gly1269Arg)
c.*3635G>C (n.*3635G>C)
c.3385G>C (p.Gly1129Arg)
c.559G>C (p.Gly187Arg)
c.1598G>C (n.1598G>C)
c.393G>C
c.1261G>C
c.3721G>C (p.Gly1241Arg)
c.3901G>C (p.Gly1301Arg)
c.3568G>C (p.Gly1190Arg)
7g.117642531G=CA1737404783CFTRc.*20G= (n.*20G=)
c.*3525G= (n.*3525G=)
c.3628G= (p.Gly1210=)
c.3811G= (p.Gly1271=)
c.*464G= (n.*464G=)
c.*472G= (n.*472G=)
c.*2186G= (n.*2186G=)
c.3805G= (p.Gly1269=)
c.*3635G= (n.*3635G=)
c.3385G= (p.Gly1129=)
c.559G= (p.Gly187=)
c.1598G= (n.1598G=)
c.393G=
c.1261G=
c.3721G= (p.Gly1241=)
c.3901G= (p.Gly1301=)
c.3568G= (p.Gly1190=)
7g.117642531G>TCA368975120CFTRc.*20G>T (n.*20G>T)
c.*3525G>T (n.*3525G>T)
c.3628G>T (p.Gly1210Cys)
c.3811G>T (p.Gly1271Cys)
c.*464G>T (n.*464G>T)
c.*472G>T (n.*472G>T)
c.*2186G>T (n.*2186G>T)
c.3805G>T (p.Gly1269Cys)
c.*3635G>T (n.*3635G>T)
c.3385G>T (p.Gly1129Cys)
c.559G>T (p.Gly187Cys)
c.1598G>T (n.1598G>T)
c.393G>T
c.1261G>T
c.3721G>T (p.Gly1241Cys)
c.3901G>T (p.Gly1301Cys)
c.3568G>T (p.Gly1190Cys)
7g.117642531_117642533delinsGGTCA1737404784CFTRc.*20_*22delinsGGT (n.*20_*22delinsGGT)
c.*3525_*3527delinsGGT (n.*3525_*3527delinsGGT)
c.3628_3630delinsGGT (p.Gly1210=)
c.3811_3813delinsGGT (p.Gly1271=)
c.*464_*466delinsGGT (n.*464_*466delinsGGT)
c.*472_*474delinsGGT (n.*472_*474delinsGGT)
c.*2186_*2188delinsGGT (n.*2186_*2188delinsGGT)
c.3805_3807delinsGGT (p.Gly1269=)
c.*3635_*3637delinsGGT (n.*3635_*3637delinsGGT)
c.3385_3387delinsGGT (p.Gly1129=)
c.559_561delinsGGT (p.Gly187=)
c.1598_1600delinsGGT (n.1598_1600delinsGGT)
c.393_395delinsGGT
c.1261_1263delinsGGT
c.3721_3723delinsGGT (p.Gly1241=)
c.3901_3903delinsGGT (p.Gly1301=)
c.3568_3570delinsGGT (p.Gly1190=)
7g.117642532G>ACA368975126CFTRc.*21G>A (n.*21G>A)
c.*3526G>A (n.*3526G>A)
c.3629G>A (p.Gly1210Asp)
c.3812G>A (p.Gly1271Asp)
c.*465G>A (n.*465G>A)
c.*473G>A (n.*473G>A)
c.*2187G>A (n.*2187G>A)
c.3806G>A (p.Gly1269Asp)
c.*3636G>A (n.*3636G>A)
c.3386G>A (p.Gly1129Asp)
c.560G>A (p.Gly187Asp)
c.1599G>A (n.1599G>A)
c.394G>A
c.1262G>A
c.3722G>A (p.Gly1241Asp)
c.3902G>A (p.Gly1301Asp)
c.3569G>A (p.Gly1190Asp)
7g.117642532G>CCA368975130CFTRc.*21G>C (n.*21G>C)
c.*3526G>C (n.*3526G>C)
c.3629G>C (p.Gly1210Ala)
c.3812G>C (p.Gly1271Ala)
c.*465G>C (n.*465G>C)
c.*473G>C (n.*473G>C)
c.*2187G>C (n.*2187G>C)
c.3806G>C (p.Gly1269Ala)
c.*3636G>C (n.*3636G>C)
c.3386G>C (p.Gly1129Ala)
c.560G>C (p.Gly187Ala)
c.1599G>C (n.1599G>C)
c.394G>C
c.1262G>C
c.3722G>C (p.Gly1241Ala)
c.3902G>C (p.Gly1301Ala)
c.3569G>C (p.Gly1190Ala)
7g.117642532G>TCA368975133CFTRc.*21G>T (n.*21G>T)
c.*3526G>T (n.*3526G>T)
c.3629G>T (p.Gly1210Val)
c.3812G>T (p.Gly1271Val)
c.*465G>T (n.*465G>T)
c.*473G>T (n.*473G>T)
c.*2187G>T (n.*2187G>T)
c.3806G>T (p.Gly1269Val)
c.*3636G>T (n.*3636G>T)
c.3386G>T (p.Gly1129Val)
c.560G>T (p.Gly187Val)
c.1599G>T (n.1599G>T)
c.394G>T
c.1262G>T
c.3722G>T (p.Gly1241Val)
c.3902G>T (p.Gly1301Val)
c.3569G>T (p.Gly1190Val)
7g.117642536_117642537delCA327298CFTRc.*25_*26del (n.*25_*26del)
c.*3530_*3531del (n.*3530_*3531del)
c.3633_3634del (p.Ser1212LeufsTer28)
c.3816_3817del (p.Ser1273LeufsTer?)
c.*469_*470del (n.*469_*470del)
c.3816_3817del (p.Ser1273LeufsTer28)
c.*477_*478del (n.*477_*478del)
c.*2191_*2192del (n.*2191_*2192del)
c.3810_3811del (p.Ser1271LeufsTer28)
c.*3640_*3641del (n.*3640_*3641del)
c.3390_3391del (p.Ser1131LeufsTer28)
c.564_565del (p.Ser189LeufsTer?)
c.1603_1604del (n.1603_1604del)
c.398_399del
c.1266_1267del
c.3726_3727del (p.Ser1243LeufsTer28)
c.3906_3907del (p.Ser1303LeufsTer28)
c.3573_3574del (p.Ser1192LeufsTer28)
 ClinVar dbSNP gnomAD v4
7g.117642533T>ACA457228281CFTRc.*22T>A (n.*22T>A)
c.*3527T>A (n.*3527T>A)
c.3630T>A (p.Gly1210=)
c.3813T>A (p.Gly1271=)
c.*466T>A (n.*466T>A)
c.*474T>A (n.*474T>A)
c.*2188T>A (n.*2188T>A)
c.3807T>A (p.Gly1269=)
c.*3637T>A (n.*3637T>A)
c.3387T>A (p.Gly1129=)
c.561T>A (p.Gly187=)
c.1600T>A (n.1600T>A)
c.395T>A
c.1263T>A
c.3723T>A (p.Gly1241=)
c.3903T>A (p.Gly1301=)
c.3570T>A (p.Gly1190=)
7g.117642533T>CCA457228284CFTRc.*22T>C (n.*22T>C)
c.*3527T>C (n.*3527T>C)
c.3630T>C (p.Gly1210=)
c.3813T>C (p.Gly1271=)
c.*466T>C (n.*466T>C)
c.*474T>C (n.*474T>C)
c.*2188T>C (n.*2188T>C)
c.3807T>C (p.Gly1269=)
c.*3637T>C (n.*3637T>C)
c.3387T>C (p.Gly1129=)
c.561T>C (p.Gly187=)
c.1600T>C (n.1600T>C)
c.395T>C
c.1263T>C
c.3723T>C (p.Gly1241=)
c.3903T>C (p.Gly1301=)
c.3570T>C (p.Gly1190=)
7g.117642533T>GCA457228283CFTRc.*22T>G (n.*22T>G)
c.*3527T>G (n.*3527T>G)
c.3630T>G (p.Gly1210=)
c.3813T>G (p.Gly1271=)
c.*466T>G (n.*466T>G)
c.*474T>G (n.*474T>G)
c.*2188T>G (n.*2188T>G)
c.3807T>G (p.Gly1269=)
c.*3637T>G (n.*3637T>G)
c.3387T>G (p.Gly1129=)
c.561T>G (p.Gly187=)
c.1600T>G (n.1600T>G)
c.395T>G
c.1263T>G
c.3723T>G (p.Gly1241=)
c.3903T>G (p.Gly1301=)
c.3570T>G (p.Gly1190=)
7g.117642534G>ACA368975138CFTRc.*23G>A (n.*23G>A)
c.*3528G>A (n.*3528G>A)
c.3631G>A (p.Val1211Met)
c.3814G>A (p.Val1272Met)
c.*467G>A (n.*467G>A)
c.*475G>A (n.*475G>A)
c.*2189G>A (n.*2189G>A)
c.3808G>A (p.Val1270Met)
c.*3638G>A (n.*3638G>A)
c.3388G>A (p.Val1130Met)
c.562G>A (p.Val188Met)
c.1601G>A (n.1601G>A)
c.396G>A
c.1264G>A
c.3724G>A (p.Val1242Met)
c.3904G>A (p.Val1302Met)
c.3571G>A (p.Val1191Met)
 dbSNP
7g.117642534G>CCA368975139CFTRc.*23G>C (n.*23G>C)
c.*3528G>C (n.*3528G>C)
c.3631G>C (p.Val1211Leu)
c.3814G>C (p.Val1272Leu)
c.*467G>C (n.*467G>C)
c.*475G>C (n.*475G>C)
c.*2189G>C (n.*2189G>C)
c.3808G>C (p.Val1270Leu)
c.*3638G>C (n.*3638G>C)
c.3388G>C (p.Val1130Leu)
c.562G>C (p.Val188Leu)
c.1601G>C (n.1601G>C)
c.396G>C
c.1264G>C
c.3724G>C (p.Val1242Leu)
c.3904G>C (p.Val1302Leu)
c.3571G>C (p.Val1191Leu)
7g.117642534G=CA1737404785CFTRc.*23G= (n.*23G=)
c.*3528G= (n.*3528G=)
c.3631G= (p.Val1211=)
c.3814G= (p.Val1272=)
c.*467G= (n.*467G=)
c.*475G= (n.*475G=)
c.*2189G= (n.*2189G=)
c.3808G= (p.Val1270=)
c.*3638G= (n.*3638G=)
c.3388G= (p.Val1130=)
c.562G= (p.Val188=)
c.1601G= (n.1601G=)
c.396G=
c.1264G=
c.3724G= (p.Val1242=)
c.3904G= (p.Val1302=)
c.3571G= (p.Val1191=)
7g.117642534G>TCA368975144CFTRc.*23G>T (n.*23G>T)
c.*3528G>T (n.*3528G>T)
c.3631G>T (p.Val1211Leu)
c.3814G>T (p.Val1272Leu)
c.*467G>T (n.*467G>T)
c.*475G>T (n.*475G>T)
c.*2189G>T (n.*2189G>T)
c.3808G>T (p.Val1270Leu)
c.*3638G>T (n.*3638G>T)
c.3388G>T (p.Val1130Leu)
c.562G>T (p.Val188Leu)
c.1601G>T (n.1601G>T)
c.396G>T
c.1264G>T
c.3724G>T (p.Val1242Leu)
c.3904G>T (p.Val1302Leu)
c.3571G>T (p.Val1191Leu)
7g.117642535T>ACA242298CFTRc.*24T>A (n.*24T>A)
c.*3529T>A (n.*3529T>A)
c.3632T>A (p.Val1211Glu)
c.3815T>A (p.Val1272Glu)
c.*468T>A (n.*468T>A)
c.*476T>A (n.*476T>A)
c.*2190T>A (n.*2190T>A)
c.3809T>A (p.Val1270Glu)
c.*3639T>A (n.*3639T>A)
c.3389T>A (p.Val1130Glu)
c.563T>A (p.Val188Glu)
c.1602T>A (n.1602T>A)
c.397T>A
c.1265T>A
c.3725T>A (p.Val1242Glu)
c.3905T>A (p.Val1302Glu)
c.3572T>A (p.Val1191Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117642535T>CCA368975153CFTRc.*24T>C (n.*24T>C)
c.*3529T>C (n.*3529T>C)
c.3632T>C (p.Val1211Ala)
c.3815T>C (p.Val1272Ala)
c.*468T>C (n.*468T>C)
c.*476T>C (n.*476T>C)
c.*2190T>C (n.*2190T>C)
c.3809T>C (p.Val1270Ala)
c.*3639T>C (n.*3639T>C)
c.3389T>C (p.Val1130Ala)
c.563T>C (p.Val188Ala)
c.1602T>C (n.1602T>C)
c.397T>C
c.1265T>C
c.3725T>C (p.Val1242Ala)
c.3905T>C (p.Val1302Ala)
c.3572T>C (p.Val1191Ala)
7g.117642535T>GCA4451552CFTRc.*24T>G (n.*24T>G)
c.*3529T>G (n.*3529T>G)
c.3632T>G (p.Val1211Gly)
c.3815T>G (p.Val1272Gly)
c.*468T>G (n.*468T>G)
c.*476T>G (n.*476T>G)
c.*2190T>G (n.*2190T>G)
c.3809T>G (p.Val1270Gly)
c.*3639T>G (n.*3639T>G)
c.3389T>G (p.Val1130Gly)
c.563T>G (p.Val188Gly)
c.1602T>G (n.1602T>G)
c.397T>G
c.1265T>G
c.3725T>G (p.Val1242Gly)
c.3905T>G (p.Val1302Gly)
c.3572T>G (p.Val1191Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117642535T=CA1737404786CFTRc.*24T= (n.*24T=)
c.*3529T= (n.*3529T=)
c.3632T= (p.Val1211=)
c.3815T= (p.Val1272=)
c.*468T= (n.*468T=)
c.*476T= (n.*476T=)
c.*2190T= (n.*2190T=)
c.3809T= (p.Val1270=)
c.*3639T= (n.*3639T=)
c.3389T= (p.Val1130=)
c.563T= (p.Val188=)
c.1602T= (n.1602T=)
c.397T=
c.1265T=
c.3725T= (p.Val1242=)
c.3905T= (p.Val1302=)
c.3572T= (p.Val1191=)
7g.117642536G>ACA457228295CFTRc.*25G>A (n.*25G>A)
c.*3530G>A (n.*3530G>A)
c.3633G>A (p.Val1211=)
c.3816G>A (p.Val1272=)
c.*469G>A (n.*469G>A)
c.*477G>A (n.*477G>A)
c.*2191G>A (n.*2191G>A)
c.3810G>A (p.Val1270=)
c.*3640G>A (n.*3640G>A)
c.3390G>A (p.Val1130=)
c.564G>A (p.Val188=)
c.1603G>A (n.1603G>A)
c.398G>A
c.1266G>A
c.3726G>A (p.Val1242=)
c.3906G>A (p.Val1302=)
c.3573G>A (p.Val1191=)
 ClinVar
7g.117642536G>CCA457228297CFTRc.*25G>C (n.*25G>C)
c.*3530G>C (n.*3530G>C)
c.3633G>C (p.Val1211=)
c.3816G>C (p.Val1272=)
c.*469G>C (n.*469G>C)
c.*477G>C (n.*477G>C)
c.*2191G>C (n.*2191G>C)
c.3810G>C (p.Val1270=)
c.*3640G>C (n.*3640G>C)
c.3390G>C (p.Val1130=)
c.564G>C (p.Val188=)
c.1603G>C (n.1603G>C)
c.398G>C
c.1266G>C
c.3726G>C (p.Val1242=)
c.3906G>C (p.Val1302=)
c.3573G>C (p.Val1191=)
7g.117642536G=CA1737404787CFTRc.*25G= (n.*25G=)
c.*3530G= (n.*3530G=)
c.3633G= (p.Val1211=)
c.3816G= (p.Val1272=)
c.*469G= (n.*469G=)
c.*477G= (n.*477G=)
c.*2191G= (n.*2191G=)
c.3810G= (p.Val1270=)
c.*3640G= (n.*3640G=)
c.3390G= (p.Val1130=)
c.564G= (p.Val188=)
c.1603G= (n.1603G=)
c.398G=
c.1266G=
c.3726G= (p.Val1242=)
c.3906G= (p.Val1302=)
c.3573G= (p.Val1191=)
7g.117642536G>TCA457228299CFTRc.*25G>T (n.*25G>T)
c.*3530G>T (n.*3530G>T)
c.3633G>T (p.Val1211=)
c.3816G>T (p.Val1272=)
c.*469G>T (n.*469G>T)
c.*477G>T (n.*477G>T)
c.*2191G>T (n.*2191G>T)
c.3810G>T (p.Val1270=)
c.*3640G>T (n.*3640G>T)
c.3390G>T (p.Val1130=)
c.564G>T (p.Val188=)
c.1603G>T (n.1603G>T)
c.398G>T
c.1266G>T
c.3726G>T (p.Val1242=)
c.3906G>T (p.Val1302=)
c.3573G>T (p.Val1191=)
 dbSNP
7g.117642537T>ACA368975159CFTRc.*26T>A (n.*26T>A)
c.*3531T>A (n.*3531T>A)
c.3634T>A (p.Ser1212Thr)
c.3817T>A (p.Ser1273Thr)
c.*470T>A (n.*470T>A)
c.*478T>A (n.*478T>A)
c.*2192T>A (n.*2192T>A)
c.3811T>A (p.Ser1271Thr)
c.*3641T>A (n.*3641T>A)
c.3391T>A (p.Ser1131Thr)
c.565T>A (p.Ser189Thr)
c.1604T>A (n.1604T>A)
c.399T>A
c.1267T>A
c.3727T>A (p.Ser1243Thr)
c.3907T>A (p.Ser1303Thr)
c.3574T>A (p.Ser1192Thr)
7g.117642537T>CCA368975161CFTRc.*26T>C (n.*26T>C)
c.*3531T>C (n.*3531T>C)
c.3634T>C (p.Ser1212Pro)
c.3817T>C (p.Ser1273Pro)
c.*470T>C (n.*470T>C)
c.*478T>C (n.*478T>C)
c.*2192T>C (n.*2192T>C)
c.3811T>C (p.Ser1271Pro)
c.*3641T>C (n.*3641T>C)
c.3391T>C (p.Ser1131Pro)
c.565T>C (p.Ser189Pro)
c.1604T>C (n.1604T>C)
c.399T>C
c.1267T>C
c.3727T>C (p.Ser1243Pro)
c.3907T>C (p.Ser1303Pro)
c.3574T>C (p.Ser1192Pro)
 gnomAD v4
7g.117642537T>GCA368975166CFTRc.*26T>G (n.*26T>G)
c.*3531T>G (n.*3531T>G)
c.3634T>G (p.Ser1212Ala)
c.3817T>G (p.Ser1273Ala)
c.*470T>G (n.*470T>G)
c.*478T>G (n.*478T>G)
c.*2192T>G (n.*2192T>G)
c.3811T>G (p.Ser1271Ala)
c.*3641T>G (n.*3641T>G)
c.3391T>G (p.Ser1131Ala)
c.565T>G (p.Ser189Ala)
c.1604T>G (n.1604T>G)
c.399T>G
c.1267T>G
c.3727T>G (p.Ser1243Ala)
c.3907T>G (p.Ser1303Ala)
c.3574T>G (p.Ser1192Ala)
7g.117642538C>ACA368975172CFTRc.*27C>A (n.*27C>A)
c.*3532C>A (n.*3532C>A)
c.3635C>A (p.Ser1212Tyr)
c.3818C>A (p.Ser1273Tyr)
c.*471C>A (n.*471C>A)
c.*479C>A (n.*479C>A)
c.*2193C>A (n.*2193C>A)
c.3812C>A (p.Ser1271Tyr)
c.*3642C>A (n.*3642C>A)
c.3392C>A (p.Ser1131Tyr)
c.566C>A (p.Ser189Tyr)
c.1605C>A (n.1605C>A)
c.400C>A
c.1268C>A
c.3728C>A (p.Ser1243Tyr)
c.3908C>A (p.Ser1303Tyr)
c.3575C>A (p.Ser1192Tyr)
7g.117642538C>GCA368975176CFTRc.*27C>G (n.*27C>G)
c.*3532C>G (n.*3532C>G)
c.3635C>G (p.Ser1212Cys)
c.3818C>G (p.Ser1273Cys)
c.*471C>G (n.*471C>G)
c.*479C>G (n.*479C>G)
c.*2193C>G (n.*2193C>G)
c.3812C>G (p.Ser1271Cys)
c.*3642C>G (n.*3642C>G)
c.3392C>G (p.Ser1131Cys)
c.566C>G (p.Ser189Cys)
c.1605C>G (n.1605C>G)
c.400C>G
c.1268C>G
c.3728C>G (p.Ser1243Cys)
c.3908C>G (p.Ser1303Cys)
c.3575C>G (p.Ser1192Cys)
7g.117642538C>TCA368975190CFTRc.*27C>T (n.*27C>T)
c.*3532C>T (n.*3532C>T)
c.3635C>T (p.Ser1212Phe)
c.3818C>T (p.Ser1273Phe)
c.*471C>T (n.*471C>T)
c.*479C>T (n.*479C>T)
c.*2193C>T (n.*2193C>T)
c.3812C>T (p.Ser1271Phe)
c.*3642C>T (n.*3642C>T)
c.3392C>T (p.Ser1131Phe)
c.566C>T (p.Ser189Phe)
c.1605C>T (n.1605C>T)
c.400C>T
c.1268C>T
c.3728C>T (p.Ser1243Phe)
c.3908C>T (p.Ser1303Phe)
c.3575C>T (p.Ser1192Phe)
 gnomAD v4
7g.117642539T>ACA457228308CFTRc.*28T>A (n.*28T>A)
c.*3533T>A (n.*3533T>A)
c.3636T>A (p.Ser1212=)
c.3819T>A (p.Ser1273=)
c.*472T>A (n.*472T>A)
c.*480T>A (n.*480T>A)
c.*2194T>A (n.*2194T>A)
c.3813T>A (p.Ser1271=)
c.*3643T>A (n.*3643T>A)
c.3393T>A (p.Ser1131=)
c.567T>A (p.Ser189=)
c.1606T>A (n.1606T>A)
c.401T>A
c.1269T>A
c.3729T>A (p.Ser1243=)
c.3909T>A (p.Ser1303=)
c.3576T>A (p.Ser1192=)
7g.117642539T>CCA457228310CFTRc.*28T>C (n.*28T>C)
c.*3533T>C (n.*3533T>C)
c.3636T>C (p.Ser1212=)
c.3819T>C (p.Ser1273=)
c.*472T>C (n.*472T>C)
c.*480T>C (n.*480T>C)
c.*2194T>C (n.*2194T>C)
c.3813T>C (p.Ser1271=)
c.*3643T>C (n.*3643T>C)
c.3393T>C (p.Ser1131=)
c.567T>C (p.Ser189=)
c.1606T>C (n.1606T>C)
c.401T>C
c.1269T>C
c.3729T>C (p.Ser1243=)
c.3909T>C (p.Ser1303=)
c.3576T>C (p.Ser1192=)
 dbSNP
7g.117642539T>GCA457228312CFTRc.*28T>G (n.*28T>G)
c.*3533T>G (n.*3533T>G)
c.3636T>G (p.Ser1212=)
c.3819T>G (p.Ser1273=)
c.*472T>G (n.*472T>G)
c.*480T>G (n.*480T>G)
c.*2194T>G (n.*2194T>G)
c.3813T>G (p.Ser1271=)
c.*3643T>G (n.*3643T>G)
c.3393T>G (p.Ser1131=)
c.567T>G (p.Ser189=)
c.1606T>G (n.1606T>G)
c.401T>G
c.1269T>G
c.3729T>G (p.Ser1243=)
c.3909T>G (p.Ser1303=)
c.3576T>G (p.Ser1192=)
 ClinVar
7g.117642539T=CA1737404788CFTRc.*28T= (n.*28T=)
c.*3533T= (n.*3533T=)
c.3636T= (p.Ser1212=)
c.3819T= (p.Ser1273=)
c.*472T= (n.*472T=)
c.*480T= (n.*480T=)
c.*2194T= (n.*2194T=)
c.3813T= (p.Ser1271=)
c.*3643T= (n.*3643T=)
c.3393T= (p.Ser1131=)
c.567T= (p.Ser189=)
c.1606T= (n.1606T=)
c.401T=
c.1269T=
c.3729T= (p.Ser1243=)
c.3909T= (p.Ser1303=)
c.3576T= (p.Ser1192=)

Number of alleles fetched