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.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=)
7g.117642540T>ACA368975194CFTRc.*29T>A (n.*29T>A)
c.*3534T>A (n.*3534T>A)
c.3637T>A (p.Trp1213Arg)
c.3820T>A (p.Trp1274Arg)
c.*473T>A (n.*473T>A)
c.*481T>A (n.*481T>A)
c.*2195T>A (n.*2195T>A)
c.3814T>A (p.Trp1272Arg)
c.*3644T>A (n.*3644T>A)
c.3394T>A (p.Trp1132Arg)
c.568T>A (p.Trp190Arg)
c.1607T>A (n.1607T>A)
c.402T>A
c.1270T>A
c.3730T>A (p.Trp1244Arg)
c.3910T>A (p.Trp1304Arg)
c.3577T>A (p.Trp1193Arg)
7g.117642540T>CCA368975196CFTRc.*29T>C (n.*29T>C)
c.*3534T>C (n.*3534T>C)
c.3637T>C (p.Trp1213Arg)
c.3820T>C (p.Trp1274Arg)
c.*473T>C (n.*473T>C)
c.*481T>C (n.*481T>C)
c.*2195T>C (n.*2195T>C)
c.3814T>C (p.Trp1272Arg)
c.*3644T>C (n.*3644T>C)
c.3394T>C (p.Trp1132Arg)
c.568T>C (p.Trp190Arg)
c.1607T>C (n.1607T>C)
c.402T>C
c.1270T>C
c.3730T>C (p.Trp1244Arg)
c.3910T>C (p.Trp1304Arg)
c.3577T>C (p.Trp1193Arg)
7g.117642540T>GCA368975199CFTRc.*29T>G (n.*29T>G)
c.*3534T>G (n.*3534T>G)
c.3637T>G (p.Trp1213Gly)
c.3820T>G (p.Trp1274Gly)
c.*473T>G (n.*473T>G)
c.*481T>G (n.*481T>G)
c.*2195T>G (n.*2195T>G)
c.3814T>G (p.Trp1272Gly)
c.*3644T>G (n.*3644T>G)
c.3394T>G (p.Trp1132Gly)
c.568T>G (p.Trp190Gly)
c.1607T>G (n.1607T>G)
c.402T>G
c.1270T>G
c.3730T>G (p.Trp1244Gly)
c.3910T>G (p.Trp1304Gly)
c.3577T>G (p.Trp1193Gly)
7g.117642541G>ACA368975218CFTRc.*30G>A (n.*30G>A)
c.*3535G>A (n.*3535G>A)
c.3638G>A (p.Trp1213Ter)
c.3821G>A (p.Trp1274Ter)
c.*474G>A (n.*474G>A)
c.*482G>A (n.*482G>A)
c.*2196G>A (n.*2196G>A)
c.3815G>A (p.Trp1272Ter)
c.*3645G>A (n.*3645G>A)
c.3395G>A (p.Trp1132Ter)
c.569G>A (p.Trp190Ter)
c.1608G>A (n.1608G>A)
c.403G>A
c.1271G>A
c.3731G>A (p.Trp1244Ter)
c.3911G>A (p.Trp1304Ter)
c.3578G>A (p.Trp1193Ter)
7g.117642541G>CCA368975215CFTRc.*30G>C (n.*30G>C)
c.*3535G>C (n.*3535G>C)
c.3638G>C (p.Trp1213Ser)
c.3821G>C (p.Trp1274Ser)
c.*474G>C (n.*474G>C)
c.*482G>C (n.*482G>C)
c.*2196G>C (n.*2196G>C)
c.3815G>C (p.Trp1272Ser)
c.*3645G>C (n.*3645G>C)
c.3395G>C (p.Trp1132Ser)
c.569G>C (p.Trp190Ser)
c.1608G>C (n.1608G>C)
c.403G>C
c.1271G>C
c.3731G>C (p.Trp1244Ser)
c.3911G>C (p.Trp1304Ser)
c.3578G>C (p.Trp1193Ser)
 gnomAD v4
7g.117642541G>TCA368975209CFTRc.*30G>T (n.*30G>T)
c.*3535G>T (n.*3535G>T)
c.3638G>T (p.Trp1213Leu)
c.3821G>T (p.Trp1274Leu)
c.*474G>T (n.*474G>T)
c.*482G>T (n.*482G>T)
c.*2196G>T (n.*2196G>T)
c.3815G>T (p.Trp1272Leu)
c.*3645G>T (n.*3645G>T)
c.3395G>T (p.Trp1132Leu)
c.569G>T (p.Trp190Leu)
c.1608G>T (n.1608G>T)
c.403G>T
c.1271G>T
c.3731G>T (p.Trp1244Leu)
c.3911G>T (p.Trp1304Leu)
c.3578G>T (p.Trp1193Leu)
7g.117642542G>ACA327299CFTRc.*31G>A (n.*31G>A)
c.*3536G>A (n.*3536G>A)
c.3639G>A (p.Trp1213Ter)
c.3822G>A (p.Trp1274Ter)
c.*475G>A (n.*475G>A)
c.*483G>A (n.*483G>A)
c.*2197G>A (n.*2197G>A)
c.3816G>A (p.Trp1272Ter)
c.*3646G>A (n.*3646G>A)
c.3396G>A (p.Trp1132Ter)
c.570G>A (p.Trp190Ter)
c.1609G>A (n.1609G>A)
c.404G>A
c.1272G>A
c.3732G>A (p.Trp1244Ter)
c.3912G>A (p.Trp1304Ter)
c.3579G>A (p.Trp1193Ter)
 ClinVar dbSNP gnomAD v4
7g.117642542G>CCA368975233CFTRc.*31G>C (n.*31G>C)
c.*3536G>C (n.*3536G>C)
c.3639G>C (p.Trp1213Cys)
c.3822G>C (p.Trp1274Cys)
c.*475G>C (n.*475G>C)
c.*483G>C (n.*483G>C)
c.*2197G>C (n.*2197G>C)
c.3816G>C (p.Trp1272Cys)
c.*3646G>C (n.*3646G>C)
c.3396G>C (p.Trp1132Cys)
c.570G>C (p.Trp190Cys)
c.1609G>C (n.1609G>C)
c.404G>C
c.1272G>C
c.3732G>C (p.Trp1244Cys)
c.3912G>C (p.Trp1304Cys)
c.3579G>C (p.Trp1193Cys)
 gnomAD v4
7g.117642542G=CA1737404789CFTRc.*31G= (n.*31G=)
c.*3536G= (n.*3536G=)
c.3639G= (p.Trp1213=)
c.3822G= (p.Trp1274=)
c.*475G= (n.*475G=)
c.*483G= (n.*483G=)
c.*2197G= (n.*2197G=)
c.3816G= (p.Trp1272=)
c.*3646G= (n.*3646G=)
c.3396G= (p.Trp1132=)
c.570G= (p.Trp190=)
c.1609G= (n.1609G=)
c.404G=
c.1272G=
c.3732G= (p.Trp1244=)
c.3912G= (p.Trp1304=)
c.3579G= (p.Trp1193=)
7g.117642542G>TCA368975235CFTRc.*31G>T (n.*31G>T)
c.*3536G>T (n.*3536G>T)
c.3639G>T (p.Trp1213Cys)
c.3822G>T (p.Trp1274Cys)
c.*475G>T (n.*475G>T)
c.*483G>T (n.*483G>T)
c.*2197G>T (n.*2197G>T)
c.3816G>T (p.Trp1272Cys)
c.*3646G>T (n.*3646G>T)
c.3396G>T (p.Trp1132Cys)
c.570G>T (p.Trp190Cys)
c.1609G>T (n.1609G>T)
c.404G>T
c.1272G>T
c.3732G>T (p.Trp1244Cys)
c.3912G>T (p.Trp1304Cys)
c.3579G>T (p.Trp1193Cys)
7g.117642543G>ACA368975238CFTRc.*32G>A (n.*32G>A)
c.*3537G>A (n.*3537G>A)
c.3640G>A (p.Asp1214Asn)
c.3823G>A (p.Asp1275Asn)
c.*476G>A (n.*476G>A)
c.*484G>A (n.*484G>A)
c.*2198G>A (n.*2198G>A)
c.3817G>A (p.Asp1273Asn)
c.*3647G>A (n.*3647G>A)
c.3397G>A (p.Asp1133Asn)
c.571G>A (p.Asp191Asn)
c.1610G>A (n.1610G>A)
c.405G>A
c.1273G>A
c.3733G>A (p.Asp1245Asn)
c.3913G>A (p.Asp1305Asn)
c.3580G>A (p.Asp1194Asn)
 COSMIC
7g.117642543G>CCA368975240CFTRc.*32G>C (n.*32G>C)
c.*3537G>C (n.*3537G>C)
c.3640G>C (p.Asp1214His)
c.3823G>C (p.Asp1275His)
c.*476G>C (n.*476G>C)
c.*484G>C (n.*484G>C)
c.*2198G>C (n.*2198G>C)
c.3817G>C (p.Asp1273His)
c.*3647G>C (n.*3647G>C)
c.3397G>C (p.Asp1133His)
c.571G>C (p.Asp191His)
c.1610G>C (n.1610G>C)
c.405G>C
c.1273G>C
c.3733G>C (p.Asp1245His)
c.3913G>C (p.Asp1305His)
c.3580G>C (p.Asp1194His)
7g.117642543G>TCA368975244CFTRc.*32G>T (n.*32G>T)
c.*3537G>T (n.*3537G>T)
c.3640G>T (p.Asp1214Tyr)
c.3823G>T (p.Asp1275Tyr)
c.*476G>T (n.*476G>T)
c.*484G>T (n.*484G>T)
c.*2198G>T (n.*2198G>T)
c.3817G>T (p.Asp1273Tyr)
c.*3647G>T (n.*3647G>T)
c.3397G>T (p.Asp1133Tyr)
c.571G>T (p.Asp191Tyr)
c.1610G>T (n.1610G>T)
c.405G>T
c.1273G>T
c.3733G>T (p.Asp1245Tyr)
c.3913G>T (p.Asp1305Tyr)
c.3580G>T (p.Asp1194Tyr)
7g.117642544A>CCA368975259CFTRc.*33A>C (n.*33A>C)
c.*3538A>C (n.*3538A>C)
c.3641A>C (p.Asp1214Ala)
c.3824A>C (p.Asp1275Ala)
c.*477A>C (n.*477A>C)
c.*485A>C (n.*485A>C)
c.*2199A>C (n.*2199A>C)
c.3818A>C (p.Asp1273Ala)
c.*3648A>C (n.*3648A>C)
c.3398A>C (p.Asp1133Ala)
c.572A>C (p.Asp191Ala)
c.1611A>C (n.1611A>C)
c.406A>C
c.1274A>C
c.3734A>C (p.Asp1245Ala)
c.3914A>C (p.Asp1305Ala)
c.3581A>C (p.Asp1194Ala)
7g.117642544A>GCA368975251CFTRc.*33A>G (n.*33A>G)
c.*3538A>G (n.*3538A>G)
c.3641A>G (p.Asp1214Gly)
c.3824A>G (p.Asp1275Gly)
c.*477A>G (n.*477A>G)
c.*485A>G (n.*485A>G)
c.*2199A>G (n.*2199A>G)
c.3818A>G (p.Asp1273Gly)
c.*3648A>G (n.*3648A>G)
c.3398A>G (p.Asp1133Gly)
c.572A>G (p.Asp191Gly)
c.1611A>G (n.1611A>G)
c.406A>G
c.1274A>G
c.3734A>G (p.Asp1245Gly)
c.3914A>G (p.Asp1305Gly)
c.3581A>G (p.Asp1194Gly)
 ClinVar
7g.117642544A>TCA368975254CFTRc.*33A>T (n.*33A>T)
c.*3538A>T (n.*3538A>T)
c.3641A>T (p.Asp1214Val)
c.3824A>T (p.Asp1275Val)
c.*477A>T (n.*477A>T)
c.*485A>T (n.*485A>T)
c.*2199A>T (n.*2199A>T)
c.3818A>T (p.Asp1273Val)
c.*3648A>T (n.*3648A>T)
c.3398A>T (p.Asp1133Val)
c.572A>T (p.Asp191Val)
c.1611A>T (n.1611A>T)
c.406A>T
c.1274A>T
c.3734A>T (p.Asp1245Val)
c.3914A>T (p.Asp1305Val)
c.3581A>T (p.Asp1194Val)
7g.117642545T>ACA368975263CFTRc.*34T>A (n.*34T>A)
c.*3539T>A (n.*3539T>A)
c.3642T>A (p.Asp1214Glu)
c.3825T>A (p.Asp1275Glu)
c.*478T>A (n.*478T>A)
c.*486T>A (n.*486T>A)
c.*2200T>A (n.*2200T>A)
c.3819T>A (p.Asp1273Glu)
c.*3649T>A (n.*3649T>A)
c.3399T>A (p.Asp1133Glu)
c.573T>A (p.Asp191Glu)
c.1612T>A (n.1612T>A)
c.407T>A
c.1275T>A
c.3735T>A (p.Asp1245Glu)
c.3915T>A (p.Asp1305Glu)
c.3582T>A (p.Asp1194Glu)
7g.117642545T>CCA457228329CFTRc.*34T>C (n.*34T>C)
c.*3539T>C (n.*3539T>C)
c.3642T>C (p.Asp1214=)
c.3825T>C (p.Asp1275=)
c.*478T>C (n.*478T>C)
c.*486T>C (n.*486T>C)
c.*2200T>C (n.*2200T>C)
c.3819T>C (p.Asp1273=)
c.*3649T>C (n.*3649T>C)
c.3399T>C (p.Asp1133=)
c.573T>C (p.Asp191=)
c.1612T>C (n.1612T>C)
c.407T>C
c.1275T>C
c.3735T>C (p.Asp1245=)
c.3915T>C (p.Asp1305=)
c.3582T>C (p.Asp1194=)
 gnomAD v4
7g.117642545T>GCA368975265CFTRc.*34T>G (n.*34T>G)
c.*3539T>G (n.*3539T>G)
c.3642T>G (p.Asp1214Glu)
c.3825T>G (p.Asp1275Glu)
c.*478T>G (n.*478T>G)
c.*486T>G (n.*486T>G)
c.*2200T>G (n.*2200T>G)
c.3819T>G (p.Asp1273Glu)
c.*3649T>G (n.*3649T>G)
c.3399T>G (p.Asp1133Glu)
c.573T>G (p.Asp191Glu)
c.1612T>G (n.1612T>G)
c.407T>G
c.1275T>G
c.3735T>G (p.Asp1245Glu)
c.3915T>G (p.Asp1305Glu)
c.3582T>G (p.Asp1194Glu)
7g.117642546T>ACA368975268CFTRc.*35T>A (n.*35T>A)
c.*3540T>A (n.*3540T>A)
c.3643T>A (p.Ser1215Thr)
c.3826T>A (p.Ser1276Thr)
c.*479T>A (n.*479T>A)
c.*487T>A (n.*487T>A)
c.*2201T>A (n.*2201T>A)
c.3820T>A (p.Ser1274Thr)
c.*3650T>A (n.*3650T>A)
c.3400T>A (p.Ser1134Thr)
c.574T>A (p.Ser192Thr)
c.1613T>A (n.1613T>A)
c.408T>A
c.1276T>A
c.3736T>A (p.Ser1246Thr)
c.3916T>A (p.Ser1306Thr)
c.3583T>A (p.Ser1195Thr)
7g.117642546T>CCA368975271CFTRc.*35T>C (n.*35T>C)
c.*3540T>C (n.*3540T>C)
c.3643T>C (p.Ser1215Pro)
c.3826T>C (p.Ser1276Pro)
c.*479T>C (n.*479T>C)
c.*487T>C (n.*487T>C)
c.*2201T>C (n.*2201T>C)
c.3820T>C (p.Ser1274Pro)
c.*3650T>C (n.*3650T>C)
c.3400T>C (p.Ser1134Pro)
c.574T>C (p.Ser192Pro)
c.1613T>C (n.1613T>C)
c.408T>C
c.1276T>C
c.3736T>C (p.Ser1246Pro)
c.3916T>C (p.Ser1306Pro)
c.3583T>C (p.Ser1195Pro)
7g.117642546T>GCA368975279CFTRc.*35T>G (n.*35T>G)
c.*3540T>G (n.*3540T>G)
c.3643T>G (p.Ser1215Ala)
c.3826T>G (p.Ser1276Ala)
c.*479T>G (n.*479T>G)
c.*487T>G (n.*487T>G)
c.*2201T>G (n.*2201T>G)
c.3820T>G (p.Ser1274Ala)
c.*3650T>G (n.*3650T>G)
c.3400T>G (p.Ser1134Ala)
c.574T>G (p.Ser192Ala)
c.1613T>G (n.1613T>G)
c.408T>G
c.1276T>G
c.3736T>G (p.Ser1246Ala)
c.3916T>G (p.Ser1306Ala)
c.3583T>G (p.Ser1195Ala)
7g.117642547C>ACA368975284CFTRc.*36C>A (n.*36C>A)
c.*3541C>A (n.*3541C>A)
c.3644C>A (p.Ser1215Ter)
c.3827C>A (p.Ser1276Ter)
c.*480C>A (n.*480C>A)
c.*488C>A (n.*488C>A)
c.*2202C>A (n.*2202C>A)
c.3821C>A (p.Ser1274Ter)
c.*3651C>A (n.*3651C>A)
c.3401C>A (p.Ser1134Ter)
c.575C>A (p.Ser192Ter)
c.1614C>A (n.1614C>A)
c.409C>A
c.1277C>A
c.3737C>A (p.Ser1246Ter)
c.3917C>A (p.Ser1306Ter)
c.3584C>A (p.Ser1195Ter)
7g.117642547C>GCA368975291CFTRc.*36C>G (n.*36C>G)
c.*3541C>G (n.*3541C>G)
c.3644C>G (p.Ser1215Ter)
c.3827C>G (p.Ser1276Ter)
c.*480C>G (n.*480C>G)
c.*488C>G (n.*488C>G)
c.*2202C>G (n.*2202C>G)
c.3821C>G (p.Ser1274Ter)
c.*3651C>G (n.*3651C>G)
c.3401C>G (p.Ser1134Ter)
c.575C>G (p.Ser192Ter)
c.1614C>G (n.1614C>G)
c.409C>G
c.1277C>G
c.3737C>G (p.Ser1246Ter)
c.3917C>G (p.Ser1306Ter)
c.3584C>G (p.Ser1195Ter)
 gnomAD v4
7g.117642547C>TCA368975287CFTRc.*36C>T (n.*36C>T)
c.*3541C>T (n.*3541C>T)
c.3644C>T (p.Ser1215Leu)
c.3827C>T (p.Ser1276Leu)
c.*480C>T (n.*480C>T)
c.*488C>T (n.*488C>T)
c.*2202C>T (n.*2202C>T)
c.3821C>T (p.Ser1274Leu)
c.*3651C>T (n.*3651C>T)
c.3401C>T (p.Ser1134Leu)
c.575C>T (p.Ser192Leu)
c.1614C>T (n.1614C>T)
c.409C>T
c.1277C>T
c.3737C>T (p.Ser1246Leu)
c.3917C>T (p.Ser1306Leu)
c.3584C>T (p.Ser1195Leu)
7g.117642547_117642548delinsCACA1737404790CFTRc.*36_*37delinsCA (n.*36_*37delinsCA)
c.*3541_*3542delinsCA (n.*3541_*3542delinsCA)
c.3644_3645delinsCA (p.Ser1215=)
c.3827_3828delinsCA (p.Ser1276=)
c.*480_*481delinsCA (n.*480_*481delinsCA)
c.*488_*489delinsCA (n.*488_*489delinsCA)
c.*2202_*2203delinsCA (n.*2202_*2203delinsCA)
c.3821_3822delinsCA (p.Ser1274=)
c.*3651_*3652delinsCA (n.*3651_*3652delinsCA)
c.3401_3402delinsCA (p.Ser1134=)
c.575_576delinsCA (p.Ser192=)
c.1614_1615delinsCA (n.1614_1615delinsCA)
c.409_410delinsCA
c.1277_1278delinsCA
c.3737_3738delinsCA (p.Ser1246=)
c.3917_3918delinsCA (p.Ser1306=)
c.3584_3585delinsCA (p.Ser1195=)
7g.117642548A>CCA457228339CFTRc.*37A>C (n.*37A>C)
c.*3542A>C (n.*3542A>C)
c.3645A>C (p.Ser1215=)
c.3828A>C (p.Ser1276=)
c.*481A>C (n.*481A>C)
c.*489A>C (n.*489A>C)
c.*2203A>C (n.*2203A>C)
c.3822A>C (p.Ser1274=)
c.*3652A>C (n.*3652A>C)
c.3402A>C (p.Ser1134=)
c.576A>C (p.Ser192=)
c.1615A>C (n.1615A>C)
c.410A>C
c.1278A>C
c.3738A>C (p.Ser1246=)
c.3918A>C (p.Ser1306=)
c.3585A>C (p.Ser1195=)
7g.117642548A>GCA457228341CFTRc.*37A>G (n.*37A>G)
c.*3542A>G (n.*3542A>G)
c.3645A>G (p.Ser1215=)
c.3828A>G (p.Ser1276=)
c.*481A>G (n.*481A>G)
c.*489A>G (n.*489A>G)
c.*2203A>G (n.*2203A>G)
c.3822A>G (p.Ser1274=)
c.*3652A>G (n.*3652A>G)
c.3402A>G (p.Ser1134=)
c.576A>G (p.Ser192=)
c.1615A>G (n.1615A>G)
c.410A>G
c.1278A>G
c.3738A>G (p.Ser1246=)
c.3918A>G (p.Ser1306=)
c.3585A>G (p.Ser1195=)
7g.117642548A>TCA457228343CFTRc.*37A>T (n.*37A>T)
c.*3542A>T (n.*3542A>T)
c.3645A>T (p.Ser1215=)
c.3828A>T (p.Ser1276=)
c.*481A>T (n.*481A>T)
c.*489A>T (n.*489A>T)
c.*2203A>T (n.*2203A>T)
c.3822A>T (p.Ser1274=)
c.*3652A>T (n.*3652A>T)
c.3402A>T (p.Ser1134=)
c.576A>T (p.Ser192=)
c.1615A>T (n.1615A>T)
c.410A>T
c.1278A>T
c.3738A>T (p.Ser1246=)
c.3918A>T (p.Ser1306=)
c.3585A>T (p.Ser1195=)
 ClinVar
7g.117642549delCA327301CFTRc.*38del (n.*38del)
c.*3543del (n.*3543del)
c.3646del (p.Ile1216Ter)
c.3829del (p.Ile1277Ter)
c.*482del (n.*482del)
c.*490del (n.*490del)
c.*2204del (n.*2204del)
c.3823del (p.Ile1275Ter)
c.*3653del (n.*3653del)
c.3403del (p.Ile1135Ter)
c.577del (p.Ile193Ter)
c.1616del (n.1616del)
c.411del
c.1279del
c.3739del (p.Ile1247Ter)
c.3919del (p.Ile1307Ter)
c.3586del (p.Ile1196Ter)
 ClinVar dbSNP
7g.117642549A=CA1737404791CFTRc.*38A= (n.*38A=)
c.*3543A= (n.*3543A=)
c.3646A= (p.Ile1216=)
c.3829A= (p.Ile1277=)
c.*482A= (n.*482A=)
c.*490A= (n.*490A=)
c.*2204A= (n.*2204A=)
c.3823A= (p.Ile1275=)
c.*3653A= (n.*3653A=)
c.3403A= (p.Ile1135=)
c.577A= (p.Ile193=)
c.1616A= (n.1616A=)
c.411A=
c.1279A=
c.3739A= (p.Ile1247=)
c.3919A= (p.Ile1307=)
c.3586A= (p.Ile1196=)
7g.117642549A>CCA368975297CFTRc.*38A>C (n.*38A>C)
c.*3543A>C (n.*3543A>C)
c.3646A>C (p.Ile1216Leu)
c.3829A>C (p.Ile1277Leu)
c.*482A>C (n.*482A>C)
c.*490A>C (n.*490A>C)
c.*2204A>C (n.*2204A>C)
c.3823A>C (p.Ile1275Leu)
c.*3653A>C (n.*3653A>C)
c.3403A>C (p.Ile1135Leu)
c.577A>C (p.Ile193Leu)
c.1616A>C (n.1616A>C)
c.411A>C
c.1279A>C
c.3739A>C (p.Ile1247Leu)
c.3919A>C (p.Ile1307Leu)
c.3586A>C (p.Ile1196Leu)
7g.117642549A>GCA368975301CFTRc.*38A>G (n.*38A>G)
c.*3543A>G (n.*3543A>G)
c.3646A>G (p.Ile1216Val)
c.3829A>G (p.Ile1277Val)
c.*482A>G (n.*482A>G)
c.*490A>G (n.*490A>G)
c.*2204A>G (n.*2204A>G)
c.3823A>G (p.Ile1275Val)
c.*3653A>G (n.*3653A>G)
c.3403A>G (p.Ile1135Val)
c.577A>G (p.Ile193Val)
c.1616A>G (n.1616A>G)
c.411A>G
c.1279A>G
c.3739A>G (p.Ile1247Val)
c.3919A>G (p.Ile1307Val)
c.3586A>G (p.Ile1196Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117642549A>TCA368975304CFTRc.*38A>T (n.*38A>T)
c.*3543A>T (n.*3543A>T)
c.3646A>T (p.Ile1216Leu)
c.3829A>T (p.Ile1277Leu)
c.*482A>T (n.*482A>T)
c.*490A>T (n.*490A>T)
c.*2204A>T (n.*2204A>T)
c.3823A>T (p.Ile1275Leu)
c.*3653A>T (n.*3653A>T)
c.3403A>T (p.Ile1135Leu)
c.577A>T (p.Ile193Leu)
c.1616A>T (n.1616A>T)
c.411A>T
c.1279A>T
c.3739A>T (p.Ile1247Leu)
c.3919A>T (p.Ile1307Leu)
c.3586A>T (p.Ile1196Leu)
7g.117642550T>ACA368975307CFTRc.*39T>A (n.*39T>A)
c.*3544T>A (n.*3544T>A)
c.3647T>A (p.Ile1216Lys)
c.3830T>A (p.Ile1277Lys)
c.*483T>A (n.*483T>A)
c.*491T>A (n.*491T>A)
c.*2205T>A (n.*2205T>A)
c.3824T>A (p.Ile1275Lys)
c.*3654T>A (n.*3654T>A)
c.3404T>A (p.Ile1135Lys)
c.578T>A (p.Ile193Lys)
c.1617T>A (n.1617T>A)
c.412T>A
c.1280T>A
c.3740T>A (p.Ile1247Lys)
c.3920T>A (p.Ile1307Lys)
c.3587T>A (p.Ile1196Lys)
7g.117642550T>CCA4451553CFTRc.*39T>C (n.*39T>C)
c.*3544T>C (n.*3544T>C)
c.3647T>C (p.Ile1216Thr)
c.3830T>C (p.Ile1277Thr)
c.*483T>C (n.*483T>C)
c.*491T>C (n.*491T>C)
c.*2205T>C (n.*2205T>C)
c.3824T>C (p.Ile1275Thr)
c.*3654T>C (n.*3654T>C)
c.3404T>C (p.Ile1135Thr)
c.578T>C (p.Ile193Thr)
c.1617T>C (n.1617T>C)
c.412T>C
c.1280T>C
c.3740T>C (p.Ile1247Thr)
c.3920T>C (p.Ile1307Thr)
c.3587T>C (p.Ile1196Thr)
 dbSNP ExAC gnomAD v2
7g.117642550T>GCA368975315CFTRc.*39T>G (n.*39T>G)
c.*3544T>G (n.*3544T>G)
c.3647T>G (p.Ile1216Arg)
c.3830T>G (p.Ile1277Arg)
c.*483T>G (n.*483T>G)
c.*491T>G (n.*491T>G)
c.*2205T>G (n.*2205T>G)
c.3824T>G (p.Ile1275Arg)
c.*3654T>G (n.*3654T>G)
c.3404T>G (p.Ile1135Arg)
c.578T>G (p.Ile193Arg)
c.1617T>G (n.1617T>G)
c.412T>G
c.1280T>G
c.3740T>G (p.Ile1247Arg)
c.3920T>G (p.Ile1307Arg)
c.3587T>G (p.Ile1196Arg)
7g.117642550T=CA1737404792CFTRc.*39T= (n.*39T=)
c.*3544T= (n.*3544T=)
c.3647T= (p.Ile1216=)
c.3830T= (p.Ile1277=)
c.*483T= (n.*483T=)
c.*491T= (n.*491T=)
c.*2205T= (n.*2205T=)
c.3824T= (p.Ile1275=)
c.*3654T= (n.*3654T=)
c.3404T= (p.Ile1135=)
c.578T= (p.Ile193=)
c.1617T= (n.1617T=)
c.412T=
c.1280T=
c.3740T= (p.Ile1247=)
c.3920T= (p.Ile1307=)
c.3587T= (p.Ile1196=)
7g.117642551A>CCA457228354CFTRc.*40A>C (n.*40A>C)
c.*3545A>C (n.*3545A>C)
c.3648A>C (p.Ile1216=)
c.3831A>C (p.Ile1277=)
c.*484A>C (n.*484A>C)
c.*492A>C (n.*492A>C)
c.*2206A>C (n.*2206A>C)
c.3825A>C (p.Ile1275=)
c.*3655A>C (n.*3655A>C)
c.3405A>C (p.Ile1135=)
c.579A>C (p.Ile193=)
c.1618A>C (n.1618A>C)
c.413A>C
c.1281A>C
c.3741A>C (p.Ile1247=)
c.3921A>C (p.Ile1307=)
c.3588A>C (p.Ile1196=)
7g.117642551A>GCA368975318CFTRc.*40A>G (n.*40A>G)
c.*3545A>G (n.*3545A>G)
c.3648A>G (p.Ile1216Met)
c.3831A>G (p.Ile1277Met)
c.*484A>G (n.*484A>G)
c.*492A>G (n.*492A>G)
c.*2206A>G (n.*2206A>G)
c.3825A>G (p.Ile1275Met)
c.*3655A>G (n.*3655A>G)
c.3405A>G (p.Ile1135Met)
c.579A>G (p.Ile193Met)
c.1618A>G (n.1618A>G)
c.413A>G
c.1281A>G
c.3741A>G (p.Ile1247Met)
c.3921A>G (p.Ile1307Met)
c.3588A>G (p.Ile1196Met)
7g.117642551A>TCA457228355CFTRc.*40A>T (n.*40A>T)
c.*3545A>T (n.*3545A>T)
c.3648A>T (p.Ile1216=)
c.3831A>T (p.Ile1277=)
c.*484A>T (n.*484A>T)
c.*492A>T (n.*492A>T)
c.*2206A>T (n.*2206A>T)
c.3825A>T (p.Ile1275=)
c.*3655A>T (n.*3655A>T)
c.3405A>T (p.Ile1135=)
c.579A>T (p.Ile193=)
c.1618A>T (n.1618A>T)
c.413A>T
c.1281A>T
c.3741A>T (p.Ile1247=)
c.3921A>T (p.Ile1307=)
c.3588A>T (p.Ile1196=)
7g.117642552A=CA1737404793CFTRc.*41A= (n.*41A=)
c.*3546A= (n.*3546A=)
c.3649A= (p.Thr1217=)
c.3832A= (p.Thr1278=)
c.*485A= (n.*485A=)
c.*493A= (n.*493A=)
c.*2207A= (n.*2207A=)
c.3826A= (p.Thr1276=)
c.*3656A= (n.*3656A=)
c.3406A= (p.Thr1136=)
c.580A= (p.Thr194=)
c.1619A= (n.1619A=)
c.414A=
c.1282A=
c.3742A= (p.Thr1248=)
c.3922A= (p.Thr1308=)
c.3589A= (p.Thr1197=)
7g.117642552A>CCA368975327CFTRc.*41A>C (n.*41A>C)
c.*3546A>C (n.*3546A>C)
c.3649A>C (p.Thr1217Pro)
c.3832A>C (p.Thr1278Pro)
c.*485A>C (n.*485A>C)
c.*493A>C (n.*493A>C)
c.*2207A>C (n.*2207A>C)
c.3826A>C (p.Thr1276Pro)
c.*3656A>C (n.*3656A>C)
c.3406A>C (p.Thr1136Pro)
c.580A>C (p.Thr194Pro)
c.1619A>C (n.1619A>C)
c.414A>C
c.1282A>C
c.3742A>C (p.Thr1248Pro)
c.3922A>C (p.Thr1308Pro)
c.3589A>C (p.Thr1197Pro)
7g.117642552A>GCA368975330CFTRc.*41A>G (n.*41A>G)
c.*3546A>G (n.*3546A>G)
c.3649A>G (p.Thr1217Ala)
c.3832A>G (p.Thr1278Ala)
c.*485A>G (n.*485A>G)
c.*493A>G (n.*493A>G)
c.*2207A>G (n.*2207A>G)
c.3826A>G (p.Thr1276Ala)
c.*3656A>G (n.*3656A>G)
c.3406A>G (p.Thr1136Ala)
c.580A>G (p.Thr194Ala)
c.1619A>G (n.1619A>G)
c.414A>G
c.1282A>G
c.3742A>G (p.Thr1248Ala)
c.3922A>G (p.Thr1308Ala)
c.3589A>G (p.Thr1197Ala)
7g.117642552A>TCA368975335CFTRc.*41A>T (n.*41A>T)
c.*3546A>T (n.*3546A>T)
c.3649A>T (p.Thr1217Ser)
c.3832A>T (p.Thr1278Ser)
c.*485A>T (n.*485A>T)
c.*493A>T (n.*493A>T)
c.*2207A>T (n.*2207A>T)
c.3826A>T (p.Thr1276Ser)
c.*3656A>T (n.*3656A>T)
c.3406A>T (p.Thr1136Ser)
c.580A>T (p.Thr194Ser)
c.1619A>T (n.1619A>T)
c.414A>T
c.1282A>T
c.3742A>T (p.Thr1248Ser)
c.3922A>T (p.Thr1308Ser)
c.3589A>T (p.Thr1197Ser)
7g.117642552_117642553insAAACCA577224050CFTRc.*41_*42insAAAC (n.*41_*42insAAAC)
c.*3546_*3547insAAAC (n.*3546_*3547insAAAC)
c.3649_3650insAAAC (p.Thr1217LysfsTer25)
c.3832_3833insAAAC (p.Thr1278LysfsTer?)
c.*485_*486insAAAC (n.*485_*486insAAAC)
c.3832_3833insAAAC (p.Thr1278LysfsTer25)
c.*493_*494insAAAC (n.*493_*494insAAAC)
c.*2207_*2208insAAAC (n.*2207_*2208insAAAC)
c.3826_3827insAAAC (p.Thr1276LysfsTer25)
c.*3656_*3657insAAAC (n.*3656_*3657insAAAC)
c.3406_3407insAAAC (p.Thr1136LysfsTer25)
c.580_581insAAAC (p.Thr194LysfsTer?)
c.1619_1620insAAAC (n.1619_1620insAAAC)
c.414_415insAAAC
c.1282_1283insAAAC
c.3742_3743insAAAC (p.Thr1248LysfsTer25)
c.3922_3923insAAAC (p.Thr1308LysfsTer25)
c.3589_3590insAAAC (p.Thr1197LysfsTer25)
 dbSNP gnomAD v2
7g.117642553C>ACA368975342CFTRc.*42C>A (n.*42C>A)
c.*3547C>A (n.*3547C>A)
c.3650C>A (p.Thr1217Asn)
c.3833C>A (p.Thr1278Asn)
c.*486C>A (n.*486C>A)
c.*494C>A (n.*494C>A)
c.*2208C>A (n.*2208C>A)
c.3827C>A (p.Thr1276Asn)
c.*3657C>A (n.*3657C>A)
c.3407C>A (p.Thr1136Asn)
c.581C>A (p.Thr194Asn)
c.1620C>A (n.1620C>A)
c.415C>A
c.1283C>A
c.3743C>A (p.Thr1248Asn)
c.3923C>A (p.Thr1308Asn)
c.3590C>A (p.Thr1197Asn)
7g.117642553C>GCA368975357CFTRc.*42C>G (n.*42C>G)
c.*3547C>G (n.*3547C>G)
c.3650C>G (p.Thr1217Ser)
c.3833C>G (p.Thr1278Ser)
c.*486C>G (n.*486C>G)
c.*494C>G (n.*494C>G)
c.*2208C>G (n.*2208C>G)
c.3827C>G (p.Thr1276Ser)
c.*3657C>G (n.*3657C>G)
c.3407C>G (p.Thr1136Ser)
c.581C>G (p.Thr194Ser)
c.1620C>G (n.1620C>G)
c.415C>G
c.1283C>G
c.3743C>G (p.Thr1248Ser)
c.3923C>G (p.Thr1308Ser)
c.3590C>G (p.Thr1197Ser)
 gnomAD v4
7g.117642553C>TCA368975340CFTRc.*42C>T (n.*42C>T)
c.*3547C>T (n.*3547C>T)
c.3650C>T (p.Thr1217Ile)
c.3833C>T (p.Thr1278Ile)
c.*486C>T (n.*486C>T)
c.*494C>T (n.*494C>T)
c.*2208C>T (n.*2208C>T)
c.3827C>T (p.Thr1276Ile)
c.*3657C>T (n.*3657C>T)
c.3407C>T (p.Thr1136Ile)
c.581C>T (p.Thr194Ile)
c.1620C>T (n.1620C>T)
c.415C>T
c.1283C>T
c.3743C>T (p.Thr1248Ile)
c.3923C>T (p.Thr1308Ile)
c.3590C>T (p.Thr1197Ile)
7g.117642553_117642555delinsCTTCA1737404794CFTRc.*42_*44delinsCTT (n.*42_*44delinsCTT)
c.*3547_*3549delinsCTT (n.*3547_*3549delinsCTT)
c.3650_3652delinsCTT (p.Thr1217=)
c.3833_3835delinsCTT (p.Thr1278=)
c.*486_*488delinsCTT (n.*486_*488delinsCTT)
c.*494_*496delinsCTT (n.*494_*496delinsCTT)
c.*2208_*2210delinsCTT (n.*2208_*2210delinsCTT)
c.3827_3829delinsCTT (p.Thr1276=)
c.*3657_*3659delinsCTT (n.*3657_*3659delinsCTT)
c.3407_3409delinsCTT (p.Thr1136=)
c.581_583delinsCTT (p.Thr194=)
c.1620_1622delinsCTT (n.1620_1622delinsCTT)
c.415_417delinsCTT
c.1283_1285delinsCTT
c.3743_3745delinsCTT (p.Thr1248=)
c.3923_3925delinsCTT (p.Thr1308=)
c.3590_3592delinsCTT (p.Thr1197=)
7g.117642554T>ACA457228366CFTRc.*43T>A (n.*43T>A)
c.*3548T>A (n.*3548T>A)
c.3651T>A (p.Thr1217=)
c.3834T>A (p.Thr1278=)
c.*487T>A (n.*487T>A)
c.*495T>A (n.*495T>A)
c.*2209T>A (n.*2209T>A)
c.3828T>A (p.Thr1276=)
c.*3658T>A (n.*3658T>A)
c.3408T>A (p.Thr1136=)
c.582T>A (p.Thr194=)
c.1621T>A (n.1621T>A)
c.416T>A
c.1284T>A
c.3744T>A (p.Thr1248=)
c.3924T>A (p.Thr1308=)
c.3591T>A (p.Thr1197=)
 dbSNP gnomAD v2
7g.117642554T>CCA457228367CFTRc.*43T>C (n.*43T>C)
c.*3548T>C (n.*3548T>C)
c.3651T>C (p.Thr1217=)
c.3834T>C (p.Thr1278=)
c.*487T>C (n.*487T>C)
c.*495T>C (n.*495T>C)
c.*2209T>C (n.*2209T>C)
c.3828T>C (p.Thr1276=)
c.*3658T>C (n.*3658T>C)
c.3408T>C (p.Thr1136=)
c.582T>C (p.Thr194=)
c.1621T>C (n.1621T>C)
c.416T>C
c.1284T>C
c.3744T>C (p.Thr1248=)
c.3924T>C (p.Thr1308=)
c.3591T>C (p.Thr1197=)
7g.117642554T>GCA457228369CFTRc.*43T>G (n.*43T>G)
c.*3548T>G (n.*3548T>G)
c.3651T>G (p.Thr1217=)
c.3834T>G (p.Thr1278=)
c.*487T>G (n.*487T>G)
c.*495T>G (n.*495T>G)
c.*2209T>G (n.*2209T>G)
c.3828T>G (p.Thr1276=)
c.*3658T>G (n.*3658T>G)
c.3408T>G (p.Thr1136=)
c.582T>G (p.Thr194=)
c.1621T>G (n.1621T>G)
c.416T>G
c.1284T>G
c.3744T>G (p.Thr1248=)
c.3924T>G (p.Thr1308=)
c.3591T>G (p.Thr1197=)
7g.117642554T=CA1737404795CFTRc.*43T= (n.*43T=)
c.*3548T= (n.*3548T=)
c.3651T= (p.Thr1217=)
c.3834T= (p.Thr1278=)
c.*487T= (n.*487T=)
c.*495T= (n.*495T=)
c.*2209T= (n.*2209T=)
c.3828T= (p.Thr1276=)
c.*3658T= (n.*3658T=)
c.3408T= (p.Thr1136=)
c.582T= (p.Thr194=)
c.1621T= (n.1621T=)
c.416T=
c.1284T=
c.3744T= (p.Thr1248=)
c.3924T= (p.Thr1308=)
c.3591T= (p.Thr1197=)
7g.117642555_117642556delCA577224051CFTRc.*44_*45del (n.*44_*45del)
c.*3549_*3550del (n.*3549_*3550del)
c.3652_3653del (p.Leu1218AlafsTer22)
c.3835_3836del (p.Leu1279AlafsTer?)
c.*488_*489del (n.*488_*489del)
c.3835_3836del (p.Leu1279AlafsTer22)
c.*496_*497del (n.*496_*497del)
c.*2210_*2211del (n.*2210_*2211del)
c.3829_3830del (p.Leu1277AlafsTer22)
c.*3659_*3660del (n.*3659_*3660del)
c.3409_3410del (p.Leu1137AlafsTer22)
c.583_584del (p.Leu195AlafsTer?)
c.1622_1623del (n.1622_1623del)
c.417_418del
c.1285_1286del
c.3745_3746del (p.Leu1249AlafsTer22)
c.3925_3926del (p.Leu1309AlafsTer22)
c.3592_3593del (p.Leu1198AlafsTer22)
 dbSNP gnomAD v2 gnomAD v4
7g.117642555T>ACA368975364CFTRc.*44T>A (n.*44T>A)
c.*3549T>A (n.*3549T>A)
c.3652T>A (p.Leu1218Met)
c.3835T>A (p.Leu1279Met)
c.*488T>A (n.*488T>A)
c.*496T>A (n.*496T>A)
c.*2210T>A (n.*2210T>A)
c.3829T>A (p.Leu1277Met)
c.*3659T>A (n.*3659T>A)
c.3409T>A (p.Leu1137Met)
c.583T>A (p.Leu195Met)
c.1622T>A (n.1622T>A)
c.417T>A
c.1285T>A
c.3745T>A (p.Leu1249Met)
c.3925T>A (p.Leu1309Met)
c.3592T>A (p.Leu1198Met)
7g.117642555T>CCA457228372CFTRc.*44T>C (n.*44T>C)
c.*3549T>C (n.*3549T>C)
c.3652T>C (p.Leu1218=)
c.3835T>C (p.Leu1279=)
c.*488T>C (n.*488T>C)
c.*496T>C (n.*496T>C)
c.*2210T>C (n.*2210T>C)
c.3829T>C (p.Leu1277=)
c.*3659T>C (n.*3659T>C)
c.3409T>C (p.Leu1137=)
c.583T>C (p.Leu195=)
c.1622T>C (n.1622T>C)
c.417T>C
c.1285T>C
c.3745T>C (p.Leu1249=)
c.3925T>C (p.Leu1309=)
c.3592T>C (p.Leu1198=)
7g.117642555T>GCA368975362CFTRc.*44T>G (n.*44T>G)
c.*3549T>G (n.*3549T>G)
c.3652T>G (p.Leu1218Val)
c.3835T>G (p.Leu1279Val)
c.*488T>G (n.*488T>G)
c.*496T>G (n.*496T>G)
c.*2210T>G (n.*2210T>G)
c.3829T>G (p.Leu1277Val)
c.*3659T>G (n.*3659T>G)
c.3409T>G (p.Leu1137Val)
c.583T>G (p.Leu195Val)
c.1622T>G (n.1622T>G)
c.417T>G
c.1285T>G
c.3745T>G (p.Leu1249Val)
c.3925T>G (p.Leu1309Val)
c.3592T>G (p.Leu1198Val)
7g.117642556T>ACA368975375CFTRc.*45T>A (n.*45T>A)
c.*3550T>A (n.*3550T>A)
c.3653T>A (p.Leu1218Ter)
c.3836T>A (p.Leu1279Ter)
c.*489T>A (n.*489T>A)
c.*497T>A (n.*497T>A)
c.*2211T>A (n.*2211T>A)
c.3830T>A (p.Leu1277Ter)
c.*3660T>A (n.*3660T>A)
c.3410T>A (p.Leu1137Ter)
c.584T>A (p.Leu195Ter)
c.1623T>A (n.1623T>A)
c.418T>A
c.1286T>A
c.3746T>A (p.Leu1249Ter)
c.3926T>A (p.Leu1309Ter)
c.3593T>A (p.Leu1198Ter)
 ClinVar
7g.117642556T>CCA368975369CFTRc.*45T>C (n.*45T>C)
c.*3550T>C (n.*3550T>C)
c.3653T>C (p.Leu1218Ser)
c.3836T>C (p.Leu1279Ser)
c.*489T>C (n.*489T>C)
c.*497T>C (n.*497T>C)
c.*2211T>C (n.*2211T>C)
c.3830T>C (p.Leu1277Ser)
c.*3660T>C (n.*3660T>C)
c.3410T>C (p.Leu1137Ser)
c.584T>C (p.Leu195Ser)
c.1623T>C (n.1623T>C)
c.418T>C
c.1286T>C
c.3746T>C (p.Leu1249Ser)
c.3926T>C (p.Leu1309Ser)
c.3593T>C (p.Leu1198Ser)
 ClinVar dbSNP gnomAD v4
7g.117642556T>GCA368975372CFTRc.*45T>G (n.*45T>G)
c.*3550T>G (n.*3550T>G)
c.3653T>G (p.Leu1218Trp)
c.3836T>G (p.Leu1279Trp)
c.*489T>G (n.*489T>G)
c.*497T>G (n.*497T>G)
c.*2211T>G (n.*2211T>G)
c.3830T>G (p.Leu1277Trp)
c.*3660T>G (n.*3660T>G)
c.3410T>G (p.Leu1137Trp)
c.584T>G (p.Leu195Trp)
c.1623T>G (n.1623T>G)
c.418T>G
c.1286T>G
c.3746T>G (p.Leu1249Trp)
c.3926T>G (p.Leu1309Trp)
c.3593T>G (p.Leu1198Trp)
 dbSNP gnomAD v2 gnomAD v4
7g.117642556T=CA1737404796CFTRc.*45T= (n.*45T=)
c.*3550T= (n.*3550T=)
c.3653T= (p.Leu1218=)
c.3836T= (p.Leu1279=)
c.*489T= (n.*489T=)
c.*497T= (n.*497T=)
c.*2211T= (n.*2211T=)
c.3830T= (p.Leu1277=)
c.*3660T= (n.*3660T=)
c.3410T= (p.Leu1137=)
c.584T= (p.Leu195=)
c.1623T= (n.1623T=)
c.418T=
c.1286T=
c.3746T= (p.Leu1249=)
c.3926T= (p.Leu1309=)
c.3593T= (p.Leu1198=)
7g.117642557G>ACA457228382CFTRc.*46G>A (n.*46G>A)
c.*3551G>A (n.*3551G>A)
c.3654G>A (p.Leu1218=)
c.3837G>A (p.Leu1279=)
c.*490G>A (n.*490G>A)
c.*498G>A (n.*498G>A)
c.*2212G>A (n.*2212G>A)
c.3831G>A (p.Leu1277=)
c.*3661G>A (n.*3661G>A)
c.3411G>A (p.Leu1137=)
c.585G>A (p.Leu195=)
c.1624G>A (n.1624G>A)
c.419G>A
c.1287G>A
c.3747G>A (p.Leu1249=)
c.3927G>A (p.Leu1309=)
c.3594G>A (p.Leu1198=)
7g.117642557G>CCA368975378CFTRc.*46G>C (n.*46G>C)
c.*3551G>C (n.*3551G>C)
c.3654G>C (p.Leu1218Phe)
c.3837G>C (p.Leu1279Phe)
c.*490G>C (n.*490G>C)
c.*498G>C (n.*498G>C)
c.*2212G>C (n.*2212G>C)
c.3831G>C (p.Leu1277Phe)
c.*3661G>C (n.*3661G>C)
c.3411G>C (p.Leu1137Phe)
c.585G>C (p.Leu195Phe)
c.1624G>C (n.1624G>C)
c.419G>C
c.1287G>C
c.3747G>C (p.Leu1249Phe)
c.3927G>C (p.Leu1309Phe)
c.3594G>C (p.Leu1198Phe)
7g.117642557G>TCA368975381CFTRc.*46G>T (n.*46G>T)
c.*3551G>T (n.*3551G>T)
c.3654G>T (p.Leu1218Phe)
c.3837G>T (p.Leu1279Phe)
c.*490G>T (n.*490G>T)
c.*498G>T (n.*498G>T)
c.*2212G>T (n.*2212G>T)
c.3831G>T (p.Leu1277Phe)
c.*3661G>T (n.*3661G>T)
c.3411G>T (p.Leu1137Phe)
c.585G>T (p.Leu195Phe)
c.1624G>T (n.1624G>T)
c.419G>T
c.1287G>T
c.3747G>T (p.Leu1249Phe)
c.3927G>T (p.Leu1309Phe)
c.3594G>T (p.Leu1198Phe)
 ClinVar
7g.117642558C>ACA368975386CFTRc.*47C>A (n.*47C>A)
c.*3552C>A (n.*3552C>A)
c.3655C>A (p.Gln1219Lys)
c.3838C>A (p.Gln1280Lys)
c.*491C>A (n.*491C>A)
c.*499C>A (n.*499C>A)
c.*2213C>A (n.*2213C>A)
c.3832C>A (p.Gln1278Lys)
c.*3662C>A (n.*3662C>A)
c.3412C>A (p.Gln1138Lys)
c.586C>A (p.Gln196Lys)
c.1625C>A (n.1625C>A)
c.420C>A
c.1288C>A
c.3748C>A (p.Gln1250Lys)
c.3928C>A (p.Gln1310Lys)
c.3595C>A (p.Gln1199Lys)
 gnomAD v4
7g.117642558C=CA1737404797CFTRc.*47C= (n.*47C=)
c.*3552C= (n.*3552C=)
c.3655C= (p.Gln1219=)
c.3838C= (p.Gln1280=)
c.*491C= (n.*491C=)
c.*499C= (n.*499C=)
c.*2213C= (n.*2213C=)
c.3832C= (p.Gln1278=)
c.*3662C= (n.*3662C=)
c.3412C= (p.Gln1138=)
c.586C= (p.Gln196=)
c.1625C= (n.1625C=)
c.420C=
c.1288C=
c.3748C= (p.Gln1250=)
c.3928C= (p.Gln1310=)
c.3595C= (p.Gln1199=)
7g.117642558C>GCA368975388CFTRc.*47C>G (n.*47C>G)
c.*3552C>G (n.*3552C>G)
c.3655C>G (p.Gln1219Glu)
c.3838C>G (p.Gln1280Glu)
c.*491C>G (n.*491C>G)
c.*499C>G (n.*499C>G)
c.*2213C>G (n.*2213C>G)
c.3832C>G (p.Gln1278Glu)
c.*3662C>G (n.*3662C>G)
c.3412C>G (p.Gln1138Glu)
c.586C>G (p.Gln196Glu)
c.1625C>G (n.1625C>G)
c.420C>G
c.1288C>G
c.3748C>G (p.Gln1250Glu)
c.3928C>G (p.Gln1310Glu)
c.3595C>G (p.Gln1199Glu)
7g.117642558C>TCA368975391CFTRc.*47C>T (n.*47C>T)
c.*3552C>T (n.*3552C>T)
c.3655C>T (p.Gln1219Ter)
c.3838C>T (p.Gln1280Ter)
c.*491C>T (n.*491C>T)
c.*499C>T (n.*499C>T)
c.*2213C>T (n.*2213C>T)
c.3832C>T (p.Gln1278Ter)
c.*3662C>T (n.*3662C>T)
c.3412C>T (p.Gln1138Ter)
c.586C>T (p.Gln196Ter)
c.1625C>T (n.1625C>T)
c.420C>T
c.1288C>T
c.3748C>T (p.Gln1250Ter)
c.3928C>T (p.Gln1310Ter)
c.3595C>T (p.Gln1199Ter)
 ClinVar dbSNP
7g.117642559A>CCA368975395CFTRc.*48A>C (n.*48A>C)
c.*3553A>C (n.*3553A>C)
c.3656A>C (p.Gln1219Pro)
c.3839A>C (p.Gln1280Pro)
c.*492A>C (n.*492A>C)
c.*500A>C (n.*500A>C)
c.*2214A>C (n.*2214A>C)
c.3833A>C (p.Gln1278Pro)
c.*3663A>C (n.*3663A>C)
c.3413A>C (p.Gln1138Pro)
c.587A>C (p.Gln196Pro)
c.1626A>C (n.1626A>C)
c.421A>C
c.1289A>C
c.3749A>C (p.Gln1250Pro)
c.3929A>C (p.Gln1310Pro)
c.3596A>C (p.Gln1199Pro)
7g.117642559A>GCA368975398CFTRc.*48A>G (n.*48A>G)
c.*3553A>G (n.*3553A>G)
c.3656A>G (p.Gln1219Arg)
c.3839A>G (p.Gln1280Arg)
c.*492A>G (n.*492A>G)
c.*500A>G (n.*500A>G)
c.*2214A>G (n.*2214A>G)
c.3833A>G (p.Gln1278Arg)
c.*3663A>G (n.*3663A>G)
c.3413A>G (p.Gln1138Arg)
c.587A>G (p.Gln196Arg)
c.1626A>G (n.1626A>G)
c.421A>G
c.1289A>G
c.3749A>G (p.Gln1250Arg)
c.3929A>G (p.Gln1310Arg)
c.3596A>G (p.Gln1199Arg)
7g.117642559A>TCA368975401CFTRc.*48A>T (n.*48A>T)
c.*3553A>T (n.*3553A>T)
c.3656A>T (p.Gln1219Leu)
c.3839A>T (p.Gln1280Leu)
c.*492A>T (n.*492A>T)
c.*500A>T (n.*500A>T)
c.*2214A>T (n.*2214A>T)
c.3833A>T (p.Gln1278Leu)
c.*3663A>T (n.*3663A>T)
c.3413A>T (p.Gln1138Leu)
c.587A>T (p.Gln196Leu)
c.1626A>T (n.1626A>T)
c.421A>T
c.1289A>T
c.3749A>T (p.Gln1250Leu)
c.3929A>T (p.Gln1310Leu)
c.3596A>T (p.Gln1199Leu)
7g.117642560A>CCA368975404CFTRc.*49A>C (n.*49A>C)
c.*3554A>C (n.*3554A>C)
c.3657A>C (p.Gln1219His)
c.3840A>C (p.Gln1280His)
c.*493A>C (n.*493A>C)
c.*501A>C (n.*501A>C)
c.*2215A>C (n.*2215A>C)
c.3834A>C (p.Gln1278His)
c.*3664A>C (n.*3664A>C)
c.3414A>C (p.Gln1138His)
c.588A>C (p.Gln196His)
c.1627A>C (n.1627A>C)
c.422A>C
c.1290A>C
c.3750A>C (p.Gln1250His)
c.3930A>C (p.Gln1310His)
c.3597A>C (p.Gln1199His)
7g.117642560A>GCA457228392CFTRc.*49A>G (n.*49A>G)
c.*3554A>G (n.*3554A>G)
c.3657A>G (p.Gln1219=)
c.3840A>G (p.Gln1280=)
c.*493A>G (n.*493A>G)
c.*501A>G (n.*501A>G)
c.*2215A>G (n.*2215A>G)
c.3834A>G (p.Gln1278=)
c.*3664A>G (n.*3664A>G)
c.3414A>G (p.Gln1138=)
c.588A>G (p.Gln196=)
c.1627A>G (n.1627A>G)
c.422A>G
c.1290A>G
c.3750A>G (p.Gln1250=)
c.3930A>G (p.Gln1310=)
c.3597A>G (p.Gln1199=)
 ClinVar
7g.117642560A>TCA368975408CFTRc.*49A>T (n.*49A>T)
c.*3554A>T (n.*3554A>T)
c.3657A>T (p.Gln1219His)
c.3840A>T (p.Gln1280His)
c.*493A>T (n.*493A>T)
c.*501A>T (n.*501A>T)
c.*2215A>T (n.*2215A>T)
c.3834A>T (p.Gln1278His)
c.*3664A>T (n.*3664A>T)
c.3414A>T (p.Gln1138His)
c.588A>T (p.Gln196His)
c.1627A>T (n.1627A>T)
c.422A>T
c.1290A>T
c.3750A>T (p.Gln1250His)
c.3930A>T (p.Gln1310His)
c.3597A>T (p.Gln1199His)
7g.117642561C>ACA368975424CFTRc.*50C>A (n.*50C>A)
c.*3555C>A (n.*3555C>A)
c.3658C>A (p.Gln1220Lys)
c.3841C>A (p.Gln1281Lys)
c.*494C>A (n.*494C>A)
c.*502C>A (n.*502C>A)
c.*2216C>A (n.*2216C>A)
c.3835C>A (p.Gln1279Lys)
c.*3665C>A (n.*3665C>A)
c.3415C>A (p.Gln1139Lys)
c.589C>A (p.Gln197Lys)
c.1628C>A (n.1628C>A)
c.423C>A
c.1291C>A
c.3751C>A (p.Gln1251Lys)
c.3931C>A (p.Gln1311Lys)
c.3598C>A (p.Gln1200Lys)
7g.117642561C=CA1737404798CFTRc.*50C= (n.*50C=)
c.*3555C= (n.*3555C=)
c.3658C= (p.Gln1220=)
c.3841C= (p.Gln1281=)
c.*494C= (n.*494C=)
c.*502C= (n.*502C=)
c.*2216C= (n.*2216C=)
c.3835C= (p.Gln1279=)
c.*3665C= (n.*3665C=)
c.3415C= (p.Gln1139=)
c.589C= (p.Gln197=)
c.1628C= (n.1628C=)
c.423C=
c.1291C=
c.3751C= (p.Gln1251=)
c.3931C= (p.Gln1311=)
c.3598C= (p.Gln1200=)
7g.117642561C>GCA4451554CFTRc.*50C>G (n.*50C>G)
c.*3555C>G (n.*3555C>G)
c.3658C>G (p.Gln1220Glu)
c.3841C>G (p.Gln1281Glu)
c.*494C>G (n.*494C>G)
c.*502C>G (n.*502C>G)
c.*2216C>G (n.*2216C>G)
c.3835C>G (p.Gln1279Glu)
c.*3665C>G (n.*3665C>G)
c.3415C>G (p.Gln1139Glu)
c.589C>G (p.Gln197Glu)
c.1628C>G (n.1628C>G)
c.423C>G
c.1291C>G
c.3751C>G (p.Gln1251Glu)
c.3931C>G (p.Gln1311Glu)
c.3598C>G (p.Gln1200Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642561C>TCA327302CFTRc.*50C>T (n.*50C>T)
c.*3555C>T (n.*3555C>T)
c.3658C>T (p.Gln1220Ter)
c.3841C>T (p.Gln1281Ter)
c.*494C>T (n.*494C>T)
c.*502C>T (n.*502C>T)
c.*2216C>T (n.*2216C>T)
c.3835C>T (p.Gln1279Ter)
c.*3665C>T (n.*3665C>T)
c.3415C>T (p.Gln1139Ter)
c.589C>T (p.Gln197Ter)
c.1628C>T (n.1628C>T)
c.423C>T
c.1291C>T
c.3751C>T (p.Gln1251Ter)
c.3931C>T (p.Gln1311Ter)
c.3598C>T (p.Gln1200Ter)
 ClinVar dbSNP gnomAD v4
7g.117642562A=CA1737404799CFTRc.*51A= (n.*51A=)
c.*3556A= (n.*3556A=)
c.3659A= (p.Gln1220=)
c.3842A= (p.Gln1281=)
c.*495A= (n.*495A=)
c.*503A= (n.*503A=)
c.*2217A= (n.*2217A=)
c.3836A= (p.Gln1279=)
c.*3666A= (n.*3666A=)
c.3416A= (p.Gln1139=)
c.590A= (p.Gln197=)
c.1629A= (n.1629A=)
c.424A=
c.1292A=
c.3752A= (p.Gln1251=)
c.3932A= (p.Gln1311=)
c.3599A= (p.Gln1200=)
7g.117642562A>CCA368975428CFTRc.*51A>C (n.*51A>C)
c.*3556A>C (n.*3556A>C)
c.3659A>C (p.Gln1220Pro)
c.3842A>C (p.Gln1281Pro)
c.*495A>C (n.*495A>C)
c.*503A>C (n.*503A>C)
c.*2217A>C (n.*2217A>C)
c.3836A>C (p.Gln1279Pro)
c.*3666A>C (n.*3666A>C)
c.3416A>C (p.Gln1139Pro)
c.590A>C (p.Gln197Pro)
c.1629A>C (n.1629A>C)
c.424A>C
c.1292A>C
c.3752A>C (p.Gln1251Pro)
c.3932A>C (p.Gln1311Pro)
c.3599A>C (p.Gln1200Pro)
 ClinVar
7g.117642562A>GCA4451555CFTRc.*51A>G (n.*51A>G)
c.*3556A>G (n.*3556A>G)
c.3659A>G (p.Gln1220Arg)
c.3842A>G (p.Gln1281Arg)
c.*495A>G (n.*495A>G)
c.*503A>G (n.*503A>G)
c.*2217A>G (n.*2217A>G)
c.3836A>G (p.Gln1279Arg)
c.*3666A>G (n.*3666A>G)
c.3416A>G (p.Gln1139Arg)
c.590A>G (p.Gln197Arg)
c.1629A>G (n.1629A>G)
c.424A>G
c.1292A>G
c.3752A>G (p.Gln1251Arg)
c.3932A>G (p.Gln1311Arg)
c.3599A>G (p.Gln1200Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117642562A>TCA368975435CFTRc.*51A>T (n.*51A>T)
c.*3556A>T (n.*3556A>T)
c.3659A>T (p.Gln1220Leu)
c.3842A>T (p.Gln1281Leu)
c.*495A>T (n.*495A>T)
c.*503A>T (n.*503A>T)
c.*2217A>T (n.*2217A>T)
c.3836A>T (p.Gln1279Leu)
c.*3666A>T (n.*3666A>T)
c.3416A>T (p.Gln1139Leu)
c.590A>T (p.Gln197Leu)
c.1629A>T (n.1629A>T)
c.424A>T
c.1292A>T
c.3752A>T (p.Gln1251Leu)
c.3932A>T (p.Gln1311Leu)
c.3599A>T (p.Gln1200Leu)
7g.117642563G>ACA457228401CFTRc.*52G>A (n.*52G>A)
c.*3557G>A (n.*3557G>A)
c.3660G>A (p.Gln1220=)
c.3843G>A (p.Gln1281=)
c.*496G>A (n.*496G>A)
c.*504G>A (n.*504G>A)
c.*2218G>A (n.*2218G>A)
c.3837G>A (p.Gln1279=)
c.*3667G>A (n.*3667G>A)
c.3417G>A (p.Gln1139=)
c.591G>A (p.Gln197=)
c.1630G>A (n.1630G>A)
c.425G>A
c.1293G>A
c.3753G>A (p.Gln1251=)
c.3933G>A (p.Gln1311=)
c.3600G>A (p.Gln1200=)
7g.117642563G>CCA368975439CFTRc.*52G>C (n.*52G>C)
c.*3557G>C (n.*3557G>C)
c.3660G>C (p.Gln1220His)
c.3843G>C (p.Gln1281His)
c.*496G>C (n.*496G>C)
c.*504G>C (n.*504G>C)
c.*2218G>C (n.*2218G>C)
c.3837G>C (p.Gln1279His)
c.*3667G>C (n.*3667G>C)
c.3417G>C (p.Gln1139His)
c.591G>C (p.Gln197His)
c.1630G>C (n.1630G>C)
c.425G>C
c.1293G>C
c.3753G>C (p.Gln1251His)
c.3933G>C (p.Gln1311His)
c.3600G>C (p.Gln1200His)
7g.117642563G>TCA368975442CFTRc.*52G>T (n.*52G>T)
c.*3557G>T (n.*3557G>T)
c.3660G>T (p.Gln1220His)
c.3843G>T (p.Gln1281His)
c.*496G>T (n.*496G>T)
c.*504G>T (n.*504G>T)
c.*2218G>T (n.*2218G>T)
c.3837G>T (p.Gln1279His)
c.*3667G>T (n.*3667G>T)
c.3417G>T (p.Gln1139His)
c.591G>T (p.Gln197His)
c.1630G>T (n.1630G>T)
c.425G>T
c.1293G>T
c.3753G>T (p.Gln1251His)
c.3933G>T (p.Gln1311His)
c.3600G>T (p.Gln1200His)
7g.117642564T>ACA368975447CFTRc.*53T>A (n.*53T>A)
c.*3558T>A (n.*3558T>A)
c.3661T>A (p.Trp1221Arg)
c.3844T>A (p.Trp1282Arg)
c.*497T>A (n.*497T>A)
c.*505T>A (n.*505T>A)
c.*2219T>A (n.*2219T>A)
c.3838T>A (p.Trp1280Arg)
c.*3668T>A (n.*3668T>A)
c.3418T>A (p.Trp1140Arg)
c.592T>A (p.Trp198Arg)
c.1631T>A (n.1631T>A)
c.426T>A
c.1294T>A
c.3754T>A (p.Trp1252Arg)
c.3934T>A (p.Trp1312Arg)
c.3601T>A (p.Trp1201Arg)
7g.117642564T>CCA327304CFTRc.*53T>C (n.*53T>C)
c.*3558T>C (n.*3558T>C)
c.3661T>C (p.Trp1221Arg)
c.3844T>C (p.Trp1282Arg)
c.*497T>C (n.*497T>C)
c.*505T>C (n.*505T>C)
c.*2219T>C (n.*2219T>C)
c.3838T>C (p.Trp1280Arg)
c.*3668T>C (n.*3668T>C)
c.3418T>C (p.Trp1140Arg)
c.592T>C (p.Trp198Arg)
c.1631T>C (n.1631T>C)
c.426T>C
c.1294T>C
c.3754T>C (p.Trp1252Arg)
c.3934T>C (p.Trp1312Arg)
c.3601T>C (p.Trp1201Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117642564T>GCA327305CFTRc.*53T>G (n.*53T>G)
c.*3558T>G (n.*3558T>G)
c.3661T>G (p.Trp1221Gly)
c.3844T>G (p.Trp1282Gly)
c.*497T>G (n.*497T>G)
c.*505T>G (n.*505T>G)
c.*2219T>G (n.*2219T>G)
c.3838T>G (p.Trp1280Gly)
c.*3668T>G (n.*3668T>G)
c.3418T>G (p.Trp1140Gly)
c.592T>G (p.Trp198Gly)
c.1631T>G (n.1631T>G)
c.426T>G
c.1294T>G
c.3754T>G (p.Trp1252Gly)
c.3934T>G (p.Trp1312Gly)
c.3601T>G (p.Trp1201Gly)
 ClinVar dbSNP
7g.117642564T=CA1737404800CFTRc.*53T= (n.*53T=)
c.*3558T= (n.*3558T=)
c.3661T= (p.Trp1221=)
c.3844T= (p.Trp1282=)
c.*497T= (n.*497T=)
c.*505T= (n.*505T=)
c.*2219T= (n.*2219T=)
c.3838T= (p.Trp1280=)
c.*3668T= (n.*3668T=)
c.3418T= (p.Trp1140=)
c.592T= (p.Trp198=)
c.1631T= (n.1631T=)
c.426T=
c.1294T=
c.3754T= (p.Trp1252=)
c.3934T= (p.Trp1312=)
c.3601T= (p.Trp1201=)
7g.117642565G>ACA368975455CFTRc.*54G>A (n.*54G>A)
c.*3559G>A (n.*3559G>A)
c.3662G>A (p.Trp1221Ter)
c.3845G>A (p.Trp1282Ter)
c.*498G>A (n.*498G>A)
c.*506G>A (n.*506G>A)
c.*2220G>A (n.*2220G>A)
c.3839G>A (p.Trp1280Ter)
c.*3669G>A (n.*3669G>A)
c.3419G>A (p.Trp1140Ter)
c.593G>A (p.Trp198Ter)
c.1632G>A (n.1632G>A)
c.427G>A
c.1295G>A
c.3755G>A (p.Trp1252Ter)
c.3935G>A (p.Trp1312Ter)
c.3602G>A (p.Trp1201Ter)
 ClinVar dbSNP
7g.117642565G>CCA368975457CFTRc.*54G>C (n.*54G>C)
c.*3559G>C (n.*3559G>C)
c.3662G>C (p.Trp1221Ser)
c.3845G>C (p.Trp1282Ser)
c.*498G>C (n.*498G>C)
c.*506G>C (n.*506G>C)
c.*2220G>C (n.*2220G>C)
c.3839G>C (p.Trp1280Ser)
c.*3669G>C (n.*3669G>C)
c.3419G>C (p.Trp1140Ser)
c.593G>C (p.Trp198Ser)
c.1632G>C (n.1632G>C)
c.427G>C
c.1295G>C
c.3755G>C (p.Trp1252Ser)
c.3935G>C (p.Trp1312Ser)
c.3602G>C (p.Trp1201Ser)
7g.117642565G=CA1737404801CFTRc.*54G= (n.*54G=)
c.*3559G= (n.*3559G=)
c.3662G= (p.Trp1221=)
c.3845G= (p.Trp1282=)
c.*498G= (n.*498G=)
c.*506G= (n.*506G=)
c.*2220G= (n.*2220G=)
c.3839G= (p.Trp1280=)
c.*3669G= (n.*3669G=)
c.3419G= (p.Trp1140=)
c.593G= (p.Trp198=)
c.1632G= (n.1632G=)
c.427G=
c.1295G=
c.3755G= (p.Trp1252=)
c.3935G= (p.Trp1312=)
c.3602G= (p.Trp1201=)
7g.117642565G>TCA368975461CFTRc.*54G>T (n.*54G>T)
c.*3559G>T (n.*3559G>T)
c.3662G>T (p.Trp1221Leu)
c.3845G>T (p.Trp1282Leu)
c.*498G>T (n.*498G>T)
c.*506G>T (n.*506G>T)
c.*2220G>T (n.*2220G>T)
c.3839G>T (p.Trp1280Leu)
c.*3669G>T (n.*3669G>T)
c.3419G>T (p.Trp1140Leu)
c.593G>T (p.Trp198Leu)
c.1632G>T (n.1632G>T)
c.427G>T
c.1295G>T
c.3755G>T (p.Trp1252Leu)
c.3935G>T (p.Trp1312Leu)
c.3602G>T (p.Trp1201Leu)
7g.117642566G>ACA340638CFTRc.*55G>A (n.*55G>A)
c.*3560G>A (n.*3560G>A)
c.3663G>A (p.Trp1221Ter)
c.3846G>A (p.Trp1282Ter)
c.*499G>A (n.*499G>A)
c.*507G>A (n.*507G>A)
c.*2221G>A (n.*2221G>A)
c.3840G>A (p.Trp1280Ter)
c.*3670G>A (n.*3670G>A)
c.3420G>A (p.Trp1140Ter)
c.594G>A (p.Trp198Ter)
c.1633G>A (n.1633G>A)
c.428G>A
c.1296G>A
c.3756G>A (p.Trp1252Ter)
c.3936G>A (p.Trp1312Ter)
c.3603G>A (p.Trp1201Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.[117642566G>A;117642568G>T]CA2573102336CFTRc.[*55G>A;*57G>T] (n.[*55G>A;*57G>T])
c.[*3560G>A;*3562G>T] (n.[*3560G>A;*3562G>T])
c.[3663G>A;3665G>T] (p.Trp1221Ter)
c.[3846G>A;3848G>T] (p.Trp1282Ter)
c.[*499G>A;*501G>T] (n.[*499G>A;*501G>T])
c.[*507G>A;*509G>T] (n.[*507G>A;*509G>T])
c.[*2221G>A;*2223G>T] (n.[*2221G>A;*2223G>T])
c.[3840G>A;3842G>T] (p.Trp1280Ter)
c.[*3670G>A;*3672G>T] (n.[*3670G>A;*3672G>T])
c.[3420G>A;3422G>T] (p.Trp1140Ter)
c.[594G>A;596G>T] (p.Trp198Ter)
c.[1633G>A;1635G>T] (n.[1633G>A;1635G>T])
c.[428G>A;430G>T]
c.[1296G>A;1298G>T]
c.[3756G>A;3758G>T] (p.Trp1252Ter)
c.[3936G>A;3938G>T] (p.Trp1312Ter)
c.[3603G>A;3605G>T] (p.Trp1201Ter)
 ClinVar
7g.117642566G>CCA4451556CFTRc.*55G>C (n.*55G>C)
c.*3560G>C (n.*3560G>C)
c.3663G>C (p.Trp1221Cys)
c.3846G>C (p.Trp1282Cys)
c.*499G>C (n.*499G>C)
c.*507G>C (n.*507G>C)
c.*2221G>C (n.*2221G>C)
c.3840G>C (p.Trp1280Cys)
c.*3670G>C (n.*3670G>C)
c.3420G>C (p.Trp1140Cys)
c.594G>C (p.Trp198Cys)
c.1633G>C (n.1633G>C)
c.428G>C
c.1296G>C
c.3756G>C (p.Trp1252Cys)
c.3936G>C (p.Trp1312Cys)
c.3603G>C (p.Trp1201Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642566G=CA1737404802CFTRc.*55G= (n.*55G=)
c.*3560G= (n.*3560G=)
c.3663G= (p.Trp1221=)
c.3846G= (p.Trp1282=)
c.*499G= (n.*499G=)
c.*507G= (n.*507G=)
c.*2221G= (n.*2221G=)
c.3840G= (p.Trp1280=)
c.*3670G= (n.*3670G=)
c.3420G= (p.Trp1140=)
c.594G= (p.Trp198=)
c.1633G= (n.1633G=)
c.428G=
c.1296G=
c.3756G= (p.Trp1252=)
c.3936G= (p.Trp1312=)
c.3603G= (p.Trp1201=)
7g.117642566G>TCA368975464CFTRc.*55G>T (n.*55G>T)
c.*3560G>T (n.*3560G>T)
c.3663G>T (p.Trp1221Cys)
c.3846G>T (p.Trp1282Cys)
c.*499G>T (n.*499G>T)
c.*507G>T (n.*507G>T)
c.*2221G>T (n.*2221G>T)
c.3840G>T (p.Trp1280Cys)
c.*3670G>T (n.*3670G>T)
c.3420G>T (p.Trp1140Cys)
c.594G>T (p.Trp198Cys)
c.1633G>T (n.1633G>T)
c.428G>T
c.1296G>T
c.3756G>T (p.Trp1252Cys)
c.3936G>T (p.Trp1312Cys)
c.3603G>T (p.Trp1201Cys)
7g.117642567A>CCA457228427CFTRc.*56A>C (n.*56A>C)
c.*3561A>C (n.*3561A>C)
c.3664A>C (p.Arg1222=)
c.3847A>C (p.Arg1283=)
c.*500A>C (n.*500A>C)
c.*508A>C (n.*508A>C)
c.*2222A>C (n.*2222A>C)
c.3841A>C (p.Arg1281=)
c.*3671A>C (n.*3671A>C)
c.3421A>C (p.Arg1141=)
c.595A>C (p.Arg199=)
c.1634A>C (n.1634A>C)
c.429A>C
c.1297A>C
c.3757A>C (p.Arg1253=)
c.3937A>C (p.Arg1313=)
c.3604A>C (p.Arg1202=)
 COSMIC
7g.117642567A>GCA368975474CFTRc.*56A>G (n.*56A>G)
c.*3561A>G (n.*3561A>G)
c.3664A>G (p.Arg1222Gly)
c.3847A>G (p.Arg1283Gly)
c.*500A>G (n.*500A>G)
c.*508A>G (n.*508A>G)
c.*2222A>G (n.*2222A>G)
c.3841A>G (p.Arg1281Gly)
c.*3671A>G (n.*3671A>G)
c.3421A>G (p.Arg1141Gly)
c.595A>G (p.Arg199Gly)
c.1634A>G (n.1634A>G)
c.429A>G
c.1297A>G
c.3757A>G (p.Arg1253Gly)
c.3937A>G (p.Arg1313Gly)
c.3604A>G (p.Arg1202Gly)
 gnomAD v4
7g.117642567A>TCA368975476CFTRc.*56A>T (n.*56A>T)
c.*3561A>T (n.*3561A>T)
c.3664A>T (p.Arg1222Trp)
c.3847A>T (p.Arg1283Trp)
c.*500A>T (n.*500A>T)
c.*508A>T (n.*508A>T)
c.*2222A>T (n.*2222A>T)
c.3841A>T (p.Arg1281Trp)
c.*3671A>T (n.*3671A>T)
c.3421A>T (p.Arg1141Trp)
c.595A>T (p.Arg199Trp)
c.1634A>T (n.1634A>T)
c.429A>T
c.1297A>T
c.3757A>T (p.Arg1253Trp)
c.3937A>T (p.Arg1313Trp)
c.3604A>T (p.Arg1202Trp)
7g.117642568_117642571delCA577224055CFTRc.*57_*60del (n.*57_*60del)
c.*3562_*3565del (n.*3562_*3565del)
c.3665_3668del (p.Arg1222LysfsTer5)
c.3848_3851del (p.Arg1283LysfsTer5)
c.*501_*504del (n.*501_*504del)
c.*509_*512del (n.*509_*512del)
c.*2223_*2226del (n.*2223_*2226del)
c.3842_3845del (p.Arg1281LysfsTer5)
c.*3672_*3675del (n.*3672_*3675del)
c.3422_3425del (p.Arg1141LysfsTer5)
c.596_599del (p.Arg199LysfsTer5)
c.1635_1638del (n.1635_1638del)
c.430_433del
c.1298_1301del
c.3758_3761del (p.Arg1253LysfsTer5)
c.3938_3941del (p.Arg1313LysfsTer5)
c.3605_3608del (p.Arg1202LysfsTer5)
 gnomAD v2
7g.117642568G>ACA327307CFTRc.*57G>A (n.*57G>A)
c.*3562G>A (n.*3562G>A)
c.3665G>A (p.Arg1222Lys)
c.3848G>A (p.Arg1283Lys)
c.*501G>A (n.*501G>A)
c.*509G>A (n.*509G>A)
c.*2223G>A (n.*2223G>A)
c.3842G>A (p.Arg1281Lys)
c.*3672G>A (n.*3672G>A)
c.3422G>A (p.Arg1141Lys)
c.596G>A (p.Arg199Lys)
c.1635G>A (n.1635G>A)
c.430G>A
c.1298G>A
c.3758G>A (p.Arg1253Lys)
c.3938G>A (p.Arg1313Lys)
c.3605G>A (p.Arg1202Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117642568G>CCA368975480CFTRc.*57G>C (n.*57G>C)
c.*3562G>C (n.*3562G>C)
c.3665G>C (p.Arg1222Thr)
c.3848G>C (p.Arg1283Thr)
c.*501G>C (n.*501G>C)
c.*509G>C (n.*509G>C)
c.*2223G>C (n.*2223G>C)
c.3842G>C (p.Arg1281Thr)
c.*3672G>C (n.*3672G>C)
c.3422G>C (p.Arg1141Thr)
c.596G>C (p.Arg199Thr)
c.1635G>C (n.1635G>C)
c.430G>C
c.1298G>C
c.3758G>C (p.Arg1253Thr)
c.3938G>C (p.Arg1313Thr)
c.3605G>C (p.Arg1202Thr)
 dbSNP
7g.117642568G=CA1737404803CFTRc.*57G= (n.*57G=)
c.*3562G= (n.*3562G=)
c.3665G= (p.Arg1222=)
c.3848G= (p.Arg1283=)
c.*501G= (n.*501G=)
c.*509G= (n.*509G=)
c.*2223G= (n.*2223G=)
c.3842G= (p.Arg1281=)
c.*3672G= (n.*3672G=)
c.3422G= (p.Arg1141=)
c.596G= (p.Arg199=)
c.1635G= (n.1635G=)
c.430G=
c.1298G=
c.3758G= (p.Arg1253=)
c.3938G= (p.Arg1313=)
c.3605G= (p.Arg1202=)
7g.117642568G>TCA325559CFTRc.*57G>T (n.*57G>T)
c.*3562G>T (n.*3562G>T)
c.3665G>T (p.Arg1222Met)
c.3848G>T (p.Arg1283Met)
c.*501G>T (n.*501G>T)
c.*509G>T (n.*509G>T)
c.*2223G>T (n.*2223G>T)
c.3842G>T (p.Arg1281Met)
c.*3672G>T (n.*3672G>T)
c.3422G>T (p.Arg1141Met)
c.596G>T (p.Arg199Met)
c.1635G>T (n.1635G>T)
c.430G>T
c.1298G>T
c.3758G>T (p.Arg1253Met)
c.3938G>T (p.Arg1313Met)
c.3605G>T (p.Arg1202Met)
 ClinVar dbSNP gnomAD v4
7g.117642569G>ACA457228437CFTRc.*58G>A (n.*58G>A)
c.*3563G>A (n.*3563G>A)
c.3666G>A (p.Arg1222=)
c.3849G>A (p.Arg1283=)
c.*502G>A (n.*502G>A)
c.*510G>A (n.*510G>A)
c.*2224G>A (n.*2224G>A)
c.3843G>A (p.Arg1281=)
c.*3673G>A (n.*3673G>A)
c.3423G>A (p.Arg1141=)
c.597G>A (p.Arg199=)
c.1636G>A (n.1636G>A)
c.431G>A
c.1299G>A
c.3759G>A (p.Arg1253=)
c.3939G>A (p.Arg1313=)
c.3606G>A (p.Arg1202=)
 ClinVar COSMIC
7g.117642569G>CCA368975486CFTRc.*58G>C (n.*58G>C)
c.*3563G>C (n.*3563G>C)
c.3666G>C (p.Arg1222Ser)
c.3849G>C (p.Arg1283Ser)
c.*502G>C (n.*502G>C)
c.*510G>C (n.*510G>C)
c.*2224G>C (n.*2224G>C)
c.3843G>C (p.Arg1281Ser)
c.*3673G>C (n.*3673G>C)
c.3423G>C (p.Arg1141Ser)
c.597G>C (p.Arg199Ser)
c.1636G>C (n.1636G>C)
c.431G>C
c.1299G>C
c.3759G>C (p.Arg1253Ser)
c.3939G>C (p.Arg1313Ser)
c.3606G>C (p.Arg1202Ser)
 ClinVar dbSNP gnomAD v4
7g.117642569G=CA1737404804CFTRc.*58G= (n.*58G=)
c.*3563G= (n.*3563G=)
c.3666G= (p.Arg1222=)
c.3849G= (p.Arg1283=)
c.*502G= (n.*502G=)
c.*510G= (n.*510G=)
c.*2224G= (n.*2224G=)
c.3843G= (p.Arg1281=)
c.*3673G= (n.*3673G=)
c.3423G= (p.Arg1141=)
c.597G= (p.Arg199=)
c.1636G= (n.1636G=)
c.431G=
c.1299G=
c.3759G= (p.Arg1253=)
c.3939G= (p.Arg1313=)
c.3606G= (p.Arg1202=)
7g.117642569G>TCA368975489CFTRc.*58G>T (n.*58G>T)
c.*3563G>T (n.*3563G>T)
c.3666G>T (p.Arg1222Ser)
c.3849G>T (p.Arg1283Ser)
c.*502G>T (n.*502G>T)
c.*510G>T (n.*510G>T)
c.*2224G>T (n.*2224G>T)
c.3843G>T (p.Arg1281Ser)
c.*3673G>T (n.*3673G>T)
c.3423G>T (p.Arg1141Ser)
c.597G>T (p.Arg199Ser)
c.1636G>T (n.1636G>T)
c.431G>T
c.1299G>T
c.3759G>T (p.Arg1253Ser)
c.3939G>T (p.Arg1313Ser)
c.3606G>T (p.Arg1202Ser)
7g.117642570A>CCA368975493CFTRc.*59A>C (n.*59A>C)
c.*3564A>C (n.*3564A>C)
c.3667A>C (p.Lys1223Gln)
c.3850A>C (p.Lys1284Gln)
c.*503A>C (n.*503A>C)
c.*511A>C (n.*511A>C)
c.*2225A>C (n.*2225A>C)
c.3844A>C (p.Lys1282Gln)
c.*3674A>C (n.*3674A>C)
c.3424A>C (p.Lys1142Gln)
c.598A>C (p.Lys200Gln)
c.1637A>C (n.1637A>C)
c.432A>C
c.1300A>C
c.3760A>C (p.Lys1254Gln)
c.3940A>C (p.Lys1314Gln)
c.3607A>C (p.Lys1203Gln)
7g.117642570A>GCA368975502CFTRc.*59A>G (n.*59A>G)
c.*3564A>G (n.*3564A>G)
c.3667A>G (p.Lys1223Glu)
c.3850A>G (p.Lys1284Glu)
c.*503A>G (n.*503A>G)
c.*511A>G (n.*511A>G)
c.*2225A>G (n.*2225A>G)
c.3844A>G (p.Lys1282Glu)
c.*3674A>G (n.*3674A>G)
c.3424A>G (p.Lys1142Glu)
c.598A>G (p.Lys200Glu)
c.1637A>G (n.1637A>G)
c.432A>G
c.1300A>G
c.3760A>G (p.Lys1254Glu)
c.3940A>G (p.Lys1314Glu)
c.3607A>G (p.Lys1203Glu)
7g.117642570A>TCA368975498CFTRc.*59A>T (n.*59A>T)
c.*3564A>T (n.*3564A>T)
c.3667A>T (p.Lys1223Ter)
c.3850A>T (p.Lys1284Ter)
c.*503A>T (n.*503A>T)
c.*511A>T (n.*511A>T)
c.*2225A>T (n.*2225A>T)
c.3844A>T (p.Lys1282Ter)
c.*3674A>T (n.*3674A>T)
c.3424A>T (p.Lys1142Ter)
c.598A>T (p.Lys200Ter)
c.1637A>T (n.1637A>T)
c.432A>T
c.1300A>T
c.3760A>T (p.Lys1254Ter)
c.3940A>T (p.Lys1314Ter)
c.3607A>T (p.Lys1203Ter)
7g.117642571_117642572dupCA16041138CFTRc.*60_*61dup (n.*60_*61dup)
c.*3565_*3566dup (n.*3565_*3566dup)
c.3668_3669dup (p.Ala1224LysfsTer5)
c.3851_3852dup (p.Ala1285LysfsTer5)
c.*504_*505dup (n.*504_*505dup)
c.*512_*513dup (n.*512_*513dup)
c.*2226_*2227dup (n.*2226_*2227dup)
c.3845_3846dup (p.Ala1283LysfsTer5)
c.*3675_*3676dup (n.*3675_*3676dup)
c.3425_3426dup (p.Ala1143LysfsTer5)
c.599_600dup (p.Ala201LysfsTer5)
c.1638_1639dup (n.1638_1639dup)
c.433_434dup
c.1301_1302dup
c.3761_3762dup (p.Ala1255LysfsTer5)
c.3941_3942dup (p.Ala1315LysfsTer5)
c.3608_3609dup (p.Ala1204LysfsTer5)
 ClinVar dbSNP
7g.117642570_117642575delinsAAAGCCCA1737404805CFTRc.*59_*64delinsAAAGCC (n.*59_*64delinsAAAGCC)
c.*3564_*3569delinsAAAGCC (n.*3564_*3569delinsAAAGCC)
c.3667_3672delinsAAAGCC (p.Lys1223=)
c.3850_3855delinsAAAGCC (p.Lys1284=)
c.*503_*508delinsAAAGCC (n.*503_*508delinsAAAGCC)
c.*511_*516delinsAAAGCC (n.*511_*516delinsAAAGCC)
c.*2225_*2230delinsAAAGCC (n.*2225_*2230delinsAAAGCC)
c.3844_3849delinsAAAGCC (p.Lys1282=)
c.*3674_*3679delinsAAAGCC (n.*3674_*3679delinsAAAGCC)
c.3424_3429delinsAAAGCC (p.Lys1142=)
c.598_603delinsAAAGCC (p.Lys200=)
c.1637_1642delinsAAAGCC (n.1637_1642delinsAAAGCC)
c.432_437delinsAAAGCC
c.1300_1305delinsAAAGCC
c.3760_3765delinsAAAGCC (p.Lys1254=)
c.3940_3945delinsAAAGCC (p.Lys1314=)
c.3607_3612delinsAAAGCC (p.Lys1203=)
7g.117642571A>CCA368975505CFTRc.*60A>C (n.*60A>C)
c.*3565A>C (n.*3565A>C)
c.3668A>C (p.Lys1223Thr)
c.3851A>C (p.Lys1284Thr)
c.*504A>C (n.*504A>C)
c.*512A>C (n.*512A>C)
c.*2226A>C (n.*2226A>C)
c.3845A>C (p.Lys1282Thr)
c.*3675A>C (n.*3675A>C)
c.3425A>C (p.Lys1142Thr)
c.599A>C (p.Lys200Thr)
c.1638A>C (n.1638A>C)
c.433A>C
c.1301A>C
c.3761A>C (p.Lys1254Thr)
c.3941A>C (p.Lys1314Thr)
c.3608A>C (p.Lys1203Thr)
7g.117642571A>GCA368975509CFTRc.*60A>G (n.*60A>G)
c.*3565A>G (n.*3565A>G)
c.3668A>G (p.Lys1223Arg)
c.3851A>G (p.Lys1284Arg)
c.*504A>G (n.*504A>G)
c.*512A>G (n.*512A>G)
c.*2226A>G (n.*2226A>G)
c.3845A>G (p.Lys1282Arg)
c.*3675A>G (n.*3675A>G)
c.3425A>G (p.Lys1142Arg)
c.599A>G (p.Lys200Arg)
c.1638A>G (n.1638A>G)
c.433A>G
c.1301A>G
c.3761A>G (p.Lys1254Arg)
c.3941A>G (p.Lys1314Arg)
c.3608A>G (p.Lys1203Arg)
 ClinVar dbSNP
7g.117642571A>TCA368975513CFTRc.*60A>T (n.*60A>T)
c.*3565A>T (n.*3565A>T)
c.3668A>T (p.Lys1223Ile)
c.3851A>T (p.Lys1284Ile)
c.*504A>T (n.*504A>T)
c.*512A>T (n.*512A>T)
c.*2226A>T (n.*2226A>T)
c.3845A>T (p.Lys1282Ile)
c.*3675A>T (n.*3675A>T)
c.3425A>T (p.Lys1142Ile)
c.599A>T (p.Lys200Ile)
c.1638A>T (n.1638A>T)
c.433A>T
c.1301A>T
c.3761A>T (p.Lys1254Ile)
c.3941A>T (p.Lys1314Ile)
c.3608A>T (p.Lys1203Ile)
7g.117642571_117642575delCA577224058CFTRc.*60_*64del (n.*60_*64del)
c.*3565_*3569del (n.*3565_*3569del)
c.3668_3672del (p.Lys1223IlefsTer16)
c.3851_3855del (p.Lys1284IlefsTer?)
c.*504_*508del (n.*504_*508del)
c.3851_3855del (p.Lys1284IlefsTer16)
c.*512_*516del (n.*512_*516del)
c.*2226_*2230del (n.*2226_*2230del)
c.3845_3849del (p.Lys1282IlefsTer16)
c.*3675_*3679del (n.*3675_*3679del)
c.3425_3429del (p.Lys1142IlefsTer16)
c.599_603del (p.Lys200IlefsTer?)
c.1638_1642del (n.1638_1642del)
c.433_437del
c.1301_1305del
c.3761_3765del (p.Lys1254IlefsTer16)
c.3941_3945del (p.Lys1314IlefsTer16)
c.3608_3612del (p.Lys1203IlefsTer16)
 dbSNP gnomAD v2
7g.117642572A=CA1737404806CFTRc.*61A= (n.*61A=)
c.*3566A= (n.*3566A=)
c.3669A= (p.Lys1223=)
c.3852A= (p.Lys1284=)
c.*505A= (n.*505A=)
c.*513A= (n.*513A=)
c.*2227A= (n.*2227A=)
c.3846A= (p.Lys1282=)
c.*3676A= (n.*3676A=)
c.3426A= (p.Lys1142=)
c.600A= (p.Lys200=)
c.1639A= (n.1639A=)
c.434A=
c.1302A=
c.3762A= (p.Lys1254=)
c.3942A= (p.Lys1314=)
c.3609A= (p.Lys1203=)
7g.117642572A>CCA368975516CFTRc.*61A>C (n.*61A>C)
c.*3566A>C (n.*3566A>C)
c.3669A>C (p.Lys1223Asn)
c.3852A>C (p.Lys1284Asn)
c.*505A>C (n.*505A>C)
c.*513A>C (n.*513A>C)
c.*2227A>C (n.*2227A>C)
c.3846A>C (p.Lys1282Asn)
c.*3676A>C (n.*3676A>C)
c.3426A>C (p.Lys1142Asn)
c.600A>C (p.Lys200Asn)
c.1639A>C (n.1639A>C)
c.434A>C
c.1302A>C
c.3762A>C (p.Lys1254Asn)
c.3942A>C (p.Lys1314Asn)
c.3609A>C (p.Lys1203Asn)
7g.117642572A>GCA4451557CFTRc.*61A>G (n.*61A>G)
c.*3566A>G (n.*3566A>G)
c.3669A>G (p.Lys1223=)
c.3852A>G (p.Lys1284=)
c.*505A>G (n.*505A>G)
c.*513A>G (n.*513A>G)
c.*2227A>G (n.*2227A>G)
c.3846A>G (p.Lys1282=)
c.*3676A>G (n.*3676A>G)
c.3426A>G (p.Lys1142=)
c.600A>G (p.Lys200=)
c.1639A>G (n.1639A>G)
c.434A>G
c.1302A>G
c.3762A>G (p.Lys1254=)
c.3942A>G (p.Lys1314=)
c.3609A>G (p.Lys1203=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642572A>TCA368975517CFTRc.*61A>T (n.*61A>T)
c.*3566A>T (n.*3566A>T)
c.3669A>T (p.Lys1223Asn)
c.3852A>T (p.Lys1284Asn)
c.*505A>T (n.*505A>T)
c.*513A>T (n.*513A>T)
c.*2227A>T (n.*2227A>T)
c.3846A>T (p.Lys1282Asn)
c.*3676A>T (n.*3676A>T)
c.3426A>T (p.Lys1142Asn)
c.600A>T (p.Lys200Asn)
c.1639A>T (n.1639A>T)
c.434A>T
c.1302A>T
c.3762A>T (p.Lys1254Asn)
c.3942A>T (p.Lys1314Asn)
c.3609A>T (p.Lys1203Asn)
 gnomAD v4
7g.117642573G>ACA164947691CFTRc.*62G>A (n.*62G>A)
c.*3567G>A (n.*3567G>A)
c.3670G>A (p.Ala1224Thr)
c.3853G>A (p.Ala1285Thr)
c.*506G>A (n.*506G>A)
c.*514G>A (n.*514G>A)
c.*2228G>A (n.*2228G>A)
c.3847G>A (p.Ala1283Thr)
c.*3677G>A (n.*3677G>A)
c.3427G>A (p.Ala1143Thr)
c.601G>A (p.Ala201Thr)
c.1640G>A (n.1640G>A)
c.435G>A
c.1303G>A
c.3763G>A (p.Ala1255Thr)
c.3943G>A (p.Ala1315Thr)
c.3610G>A (p.Ala1204Thr)
 ClinVar dbSNP
7g.117642573G>CCA368975521CFTRc.*62G>C (n.*62G>C)
c.*3567G>C (n.*3567G>C)
c.3670G>C (p.Ala1224Pro)
c.3853G>C (p.Ala1285Pro)
c.*506G>C (n.*506G>C)
c.*514G>C (n.*514G>C)
c.*2228G>C (n.*2228G>C)
c.3847G>C (p.Ala1283Pro)
c.*3677G>C (n.*3677G>C)
c.3427G>C (p.Ala1143Pro)
c.601G>C (p.Ala201Pro)
c.1640G>C (n.1640G>C)
c.435G>C
c.1303G>C
c.3763G>C (p.Ala1255Pro)
c.3943G>C (p.Ala1315Pro)
c.3610G>C (p.Ala1204Pro)
7g.117642573G=CA1737404807CFTRc.*62G= (n.*62G=)
c.*3567G= (n.*3567G=)
c.3670G= (p.Ala1224=)
c.3853G= (p.Ala1285=)
c.*506G= (n.*506G=)
c.*514G= (n.*514G=)
c.*2228G= (n.*2228G=)
c.3847G= (p.Ala1283=)
c.*3677G= (n.*3677G=)
c.3427G= (p.Ala1143=)
c.601G= (p.Ala201=)
c.1640G= (n.1640G=)
c.435G=
c.1303G=
c.3763G= (p.Ala1255=)
c.3943G= (p.Ala1315=)
c.3610G= (p.Ala1204=)
7g.117642573G>TCA368975523CFTRc.*62G>T (n.*62G>T)
c.*3567G>T (n.*3567G>T)
c.3670G>T (p.Ala1224Ser)
c.3853G>T (p.Ala1285Ser)
c.*506G>T (n.*506G>T)
c.*514G>T (n.*514G>T)
c.*2228G>T (n.*2228G>T)
c.3847G>T (p.Ala1283Ser)
c.*3677G>T (n.*3677G>T)
c.3427G>T (p.Ala1143Ser)
c.601G>T (p.Ala201Ser)
c.1640G>T (n.1640G>T)
c.435G>T
c.1303G>T
c.3763G>T (p.Ala1255Ser)
c.3943G>T (p.Ala1315Ser)
c.3610G>T (p.Ala1204Ser)
 dbSNP
7g.117642573_117642574delinsGCCA1737404808CFTRc.*62_*63delinsGC (n.*62_*63delinsGC)
c.*3567_*3568delinsGC (n.*3567_*3568delinsGC)
c.3670_3671delinsGC (p.Ala1224=)
c.3853_3854delinsGC (p.Ala1285=)
c.*506_*507delinsGC (n.*506_*507delinsGC)
c.*514_*515delinsGC (n.*514_*515delinsGC)
c.*2228_*2229delinsGC (n.*2228_*2229delinsGC)
c.3847_3848delinsGC (p.Ala1283=)
c.*3677_*3678delinsGC (n.*3677_*3678delinsGC)
c.3427_3428delinsGC (p.Ala1143=)
c.601_602delinsGC (p.Ala201=)
c.1640_1641delinsGC (n.1640_1641delinsGC)
c.435_436delinsGC
c.1303_1304delinsGC
c.3763_3764delinsGC (p.Ala1255=)
c.3943_3944delinsGC (p.Ala1315=)
c.3610_3611delinsGC (p.Ala1204=)
7g.117642574C>ACA368975529CFTRc.*63C>A (n.*63C>A)
c.*3568C>A (n.*3568C>A)
c.3671C>A (p.Ala1224Asp)
c.3854C>A (p.Ala1285Asp)
c.*507C>A (n.*507C>A)
c.*515C>A (n.*515C>A)
c.*2229C>A (n.*2229C>A)
c.3848C>A (p.Ala1283Asp)
c.*3678C>A (n.*3678C>A)
c.3428C>A (p.Ala1143Asp)
c.602C>A (p.Ala201Asp)
c.1641C>A (n.1641C>A)
c.436C>A
c.1304C>A
c.3764C>A (p.Ala1255Asp)
c.3944C>A (p.Ala1315Asp)
c.3611C>A (p.Ala1204Asp)
 dbSNP gnomAD v2
7g.117642574C=CA1737404809CFTRc.*63C= (n.*63C=)
c.*3568C= (n.*3568C=)
c.3671C= (p.Ala1224=)
c.3854C= (p.Ala1285=)
c.*507C= (n.*507C=)
c.*515C= (n.*515C=)
c.*2229C= (n.*2229C=)
c.3848C= (p.Ala1283=)
c.*3678C= (n.*3678C=)
c.3428C= (p.Ala1143=)
c.602C= (p.Ala201=)
c.1641C= (n.1641C=)
c.436C=
c.1304C=
c.3764C= (p.Ala1255=)
c.3944C= (p.Ala1315=)
c.3611C= (p.Ala1204=)
7g.117642574C>GCA368975532CFTRc.*63C>G (n.*63C>G)
c.*3568C>G (n.*3568C>G)
c.3671C>G (p.Ala1224Gly)
c.3854C>G (p.Ala1285Gly)
c.*507C>G (n.*507C>G)
c.*515C>G (n.*515C>G)
c.*2229C>G (n.*2229C>G)
c.3848C>G (p.Ala1283Gly)
c.*3678C>G (n.*3678C>G)
c.3428C>G (p.Ala1143Gly)
c.602C>G (p.Ala201Gly)
c.1641C>G (n.1641C>G)
c.436C>G
c.1304C>G
c.3764C>G (p.Ala1255Gly)
c.3944C>G (p.Ala1315Gly)
c.3611C>G (p.Ala1204Gly)
 ClinVar gnomAD v4
7g.117642574C>TCA327309CFTRc.*63C>T (n.*63C>T)
c.*3568C>T (n.*3568C>T)
c.3671C>T (p.Ala1224Val)
c.3854C>T (p.Ala1285Val)
c.*507C>T (n.*507C>T)
c.*515C>T (n.*515C>T)
c.*2229C>T (n.*2229C>T)
c.3848C>T (p.Ala1283Val)
c.*3678C>T (n.*3678C>T)
c.3428C>T (p.Ala1143Val)
c.602C>T (p.Ala201Val)
c.1641C>T (n.1641C>T)
c.436C>T
c.1304C>T
c.3764C>T (p.Ala1255Val)
c.3944C>T (p.Ala1315Val)
c.3611C>T (p.Ala1204Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642575delCA327311CFTRc.*64del (n.*64del)
c.*3569del (n.*3569del)
c.3672del (p.Phe1225LeufsTer3)
c.3855del (p.Phe1286LeufsTer3)
c.*508del (n.*508del)
c.*516del (n.*516del)
c.*2230del (n.*2230del)
c.3849del (p.Phe1284LeufsTer3)
c.*3679del (n.*3679del)
c.3429del (p.Phe1144LeufsTer3)
c.603del (p.Phe202LeufsTer3)
c.1642del (n.1642del)
c.437del
c.1305del
c.3765del (p.Phe1256LeufsTer3)
c.3945del (p.Phe1316LeufsTer3)
c.3612del (p.Phe1205LeufsTer3)
 ClinVar dbSNP
7g.117642575C>ACA457228464CFTRc.*64C>A (n.*64C>A)
c.*3569C>A (n.*3569C>A)
c.3672C>A (p.Ala1224=)
c.3855C>A (p.Ala1285=)
c.*508C>A (n.*508C>A)
c.*516C>A (n.*516C>A)
c.*2230C>A (n.*2230C>A)
c.3849C>A (p.Ala1283=)
c.*3679C>A (n.*3679C>A)
c.3429C>A (p.Ala1143=)
c.603C>A (p.Ala201=)
c.1642C>A (n.1642C>A)
c.437C>A
c.1305C>A
c.3765C>A (p.Ala1255=)
c.3945C>A (p.Ala1315=)
c.3612C>A (p.Ala1204=)
7g.117642575C=CA1737404810CFTRc.*64C= (n.*64C=)
c.*3569C= (n.*3569C=)
c.3672C= (p.Ala1224=)
c.3855C= (p.Ala1285=)
c.*508C= (n.*508C=)
c.*516C= (n.*516C=)
c.*2230C= (n.*2230C=)
c.3849C= (p.Ala1283=)
c.*3679C= (n.*3679C=)
c.3429C= (p.Ala1143=)
c.603C= (p.Ala201=)
c.1642C= (n.1642C=)
c.437C=
c.1305C=
c.3765C= (p.Ala1255=)
c.3945C= (p.Ala1315=)
c.3612C= (p.Ala1204=)
7g.117642575C>GCA4451558CFTRc.*64C>G (n.*64C>G)
c.*3569C>G (n.*3569C>G)
c.3672C>G (p.Ala1224=)
c.3855C>G (p.Ala1285=)
c.*508C>G (n.*508C>G)
c.*516C>G (n.*516C>G)
c.*2230C>G (n.*2230C>G)
c.3849C>G (p.Ala1283=)
c.*3679C>G (n.*3679C>G)
c.3429C>G (p.Ala1143=)
c.603C>G (p.Ala201=)
c.1642C>G (n.1642C>G)
c.437C>G
c.1305C>G
c.3765C>G (p.Ala1255=)
c.3945C>G (p.Ala1315=)
c.3612C>G (p.Ala1204=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117642575C>TCA457228467CFTRc.*64C>T (n.*64C>T)
c.*3569C>T (n.*3569C>T)
c.3672C>T (p.Ala1224=)
c.3855C>T (p.Ala1285=)
c.*508C>T (n.*508C>T)
c.*516C>T (n.*516C>T)
c.*2230C>T (n.*2230C>T)
c.3849C>T (p.Ala1283=)
c.*3679C>T (n.*3679C>T)
c.3429C>T (p.Ala1143=)
c.603C>T (p.Ala201=)
c.1642C>T (n.1642C>T)
c.437C>T
c.1305C>T
c.3765C>T (p.Ala1255=)
c.3945C>T (p.Ala1315=)
c.3612C>T (p.Ala1204=)
 dbSNP gnomAD v2 gnomAD v4
7g.117642576T>ACA368975540CFTRc.*65T>A (n.*65T>A)
c.*3570T>A (n.*3570T>A)
c.3673T>A (p.Phe1225Ile)
c.3856T>A (p.Phe1286Ile)
c.*509T>A (n.*509T>A)
c.*517T>A (n.*517T>A)
c.*2231T>A (n.*2231T>A)
c.3850T>A (p.Phe1284Ile)
c.*3680T>A (n.*3680T>A)
c.3430T>A (p.Phe1144Ile)
c.604T>A (p.Phe202Ile)
c.1643T>A (n.1643T>A)
c.438T>A
c.1306T>A
c.3766T>A (p.Phe1256Ile)
c.3946T>A (p.Phe1316Ile)
c.3613T>A (p.Phe1205Ile)
7g.117642576T>CCA368975544CFTRc.*65T>C (n.*65T>C)
c.*3570T>C (n.*3570T>C)
c.3673T>C (p.Phe1225Leu)
c.3856T>C (p.Phe1286Leu)
c.*509T>C (n.*509T>C)
c.*517T>C (n.*517T>C)
c.*2231T>C (n.*2231T>C)
c.3850T>C (p.Phe1284Leu)
c.*3680T>C (n.*3680T>C)
c.3430T>C (p.Phe1144Leu)
c.604T>C (p.Phe202Leu)
c.1643T>C (n.1643T>C)
c.438T>C
c.1306T>C
c.3766T>C (p.Phe1256Leu)
c.3946T>C (p.Phe1316Leu)
c.3613T>C (p.Phe1205Leu)
 COSMIC
7g.117642576T>GCA368975546CFTRc.*65T>G (n.*65T>G)
c.*3570T>G (n.*3570T>G)
c.3673T>G (p.Phe1225Val)
c.3856T>G (p.Phe1286Val)
c.*509T>G (n.*509T>G)
c.*517T>G (n.*517T>G)
c.*2231T>G (n.*2231T>G)
c.3850T>G (p.Phe1284Val)
c.*3680T>G (n.*3680T>G)
c.3430T>G (p.Phe1144Val)
c.604T>G (p.Phe202Val)
c.1643T>G (n.1643T>G)
c.438T>G
c.1306T>G
c.3766T>G (p.Phe1256Val)
c.3946T>G (p.Phe1316Val)
c.3613T>G (p.Phe1205Val)
7g.117642577T>ACA368975555CFTRc.*66T>A (n.*66T>A)
c.*3571T>A (n.*3571T>A)
c.3674T>A (p.Phe1225Tyr)
c.3857T>A (p.Phe1286Tyr)
c.*510T>A (n.*510T>A)
c.*518T>A (n.*518T>A)
c.*2232T>A (n.*2232T>A)
c.3851T>A (p.Phe1284Tyr)
c.*3681T>A (n.*3681T>A)
c.3431T>A (p.Phe1144Tyr)
c.605T>A (p.Phe202Tyr)
c.1644T>A (n.1644T>A)
c.439T>A
c.1307T>A
c.3767T>A (p.Phe1256Tyr)
c.3947T>A (p.Phe1316Tyr)
c.3614T>A (p.Phe1205Tyr)
7g.117642577T>CCA325574CFTRc.*66T>C (n.*66T>C)
c.*3571T>C (n.*3571T>C)
c.3674T>C (p.Phe1225Ser)
c.3857T>C (p.Phe1286Ser)
c.*510T>C (n.*510T>C)
c.*518T>C (n.*518T>C)
c.*2232T>C (n.*2232T>C)
c.3851T>C (p.Phe1284Ser)
c.*3681T>C (n.*3681T>C)
c.3431T>C (p.Phe1144Ser)
c.605T>C (p.Phe202Ser)
c.1644T>C (n.1644T>C)
c.439T>C
c.1307T>C
c.3767T>C (p.Phe1256Ser)
c.3947T>C (p.Phe1316Ser)
c.3614T>C (p.Phe1205Ser)
 ClinVar dbSNP
7g.117642577T>GCA368975550CFTRc.*66T>G (n.*66T>G)
c.*3571T>G (n.*3571T>G)
c.3674T>G (p.Phe1225Cys)
c.3857T>G (p.Phe1286Cys)
c.*510T>G (n.*510T>G)
c.*518T>G (n.*518T>G)
c.*2232T>G (n.*2232T>G)
c.3851T>G (p.Phe1284Cys)
c.*3681T>G (n.*3681T>G)
c.3431T>G (p.Phe1144Cys)
c.605T>G (p.Phe202Cys)
c.1644T>G (n.1644T>G)
c.439T>G
c.1307T>G
c.3767T>G (p.Phe1256Cys)
c.3947T>G (p.Phe1316Cys)
c.3614T>G (p.Phe1205Cys)
 ClinVar dbSNP gnomAD v4
7g.117642577T=CA1737404811CFTRc.*66T= (n.*66T=)
c.*3571T= (n.*3571T=)
c.3674T= (p.Phe1225=)
c.3857T= (p.Phe1286=)
c.*510T= (n.*510T=)
c.*518T= (n.*518T=)
c.*2232T= (n.*2232T=)
c.3851T= (p.Phe1284=)
c.*3681T= (n.*3681T=)
c.3431T= (p.Phe1144=)
c.605T= (p.Phe202=)
c.1644T= (n.1644T=)
c.439T=
c.1307T=
c.3767T= (p.Phe1256=)
c.3947T= (p.Phe1316=)
c.3614T= (p.Phe1205=)
7g.117642578T>ACA368975560CFTRc.*67T>A (n.*67T>A)
c.*3572T>A (n.*3572T>A)
c.3675T>A (p.Phe1225Leu)
c.3858T>A (p.Phe1286Leu)
c.*511T>A (n.*511T>A)
c.*519T>A (n.*519T>A)
c.*2233T>A (n.*2233T>A)
c.3852T>A (p.Phe1284Leu)
c.*3682T>A (n.*3682T>A)
c.3432T>A (p.Phe1144Leu)
c.606T>A (p.Phe202Leu)
c.1645T>A (n.1645T>A)
c.440T>A
c.1308T>A
c.3768T>A (p.Phe1256Leu)
c.3948T>A (p.Phe1316Leu)
c.3615T>A (p.Phe1205Leu)
7g.117642578T>CCA457228479CFTRc.*67T>C (n.*67T>C)
c.*3572T>C (n.*3572T>C)
c.3675T>C (p.Phe1225=)
c.3858T>C (p.Phe1286=)
c.*511T>C (n.*511T>C)
c.*519T>C (n.*519T>C)
c.*2233T>C (n.*2233T>C)
c.3852T>C (p.Phe1284=)
c.*3682T>C (n.*3682T>C)
c.3432T>C (p.Phe1144=)
c.606T>C (p.Phe202=)
c.1645T>C (n.1645T>C)
c.440T>C
c.1308T>C
c.3768T>C (p.Phe1256=)
c.3948T>C (p.Phe1316=)
c.3615T>C (p.Phe1205=)
7g.117642578T>GCA368975563CFTRc.*67T>G (n.*67T>G)
c.*3572T>G (n.*3572T>G)
c.3675T>G (p.Phe1225Leu)
c.3858T>G (p.Phe1286Leu)
c.*511T>G (n.*511T>G)
c.*519T>G (n.*519T>G)
c.*2233T>G (n.*2233T>G)
c.3852T>G (p.Phe1284Leu)
c.*3682T>G (n.*3682T>G)
c.3432T>G (p.Phe1144Leu)
c.606T>G (p.Phe202Leu)
c.1645T>G (n.1645T>G)
c.440T>G
c.1308T>G
c.3768T>G (p.Phe1256Leu)
c.3948T>G (p.Phe1316Leu)
c.3615T>G (p.Phe1205Leu)
 dbSNP
7g.117642578T=CA1737404812CFTRc.*67T= (n.*67T=)
c.*3572T= (n.*3572T=)
c.3675T= (p.Phe1225=)
c.3858T= (p.Phe1286=)
c.*511T= (n.*511T=)
c.*519T= (n.*519T=)
c.*2233T= (n.*2233T=)
c.3852T= (p.Phe1284=)
c.*3682T= (n.*3682T=)
c.3432T= (p.Phe1144=)
c.606T= (p.Phe202=)
c.1645T= (n.1645T=)
c.440T=
c.1308T=
c.3768T= (p.Phe1256=)
c.3948T= (p.Phe1316=)
c.3615T= (p.Phe1205=)
7g.117642579G>ACA368975566CFTRc.*68G>A (n.*68G>A)
c.*3573G>A (n.*3573G>A)
c.3676G>A (p.Gly1226Arg)
c.3859G>A (p.Gly1287Arg)
c.*512G>A (n.*512G>A)
c.*520G>A (n.*520G>A)
c.*2234G>A (n.*2234G>A)
c.3853G>A (p.Gly1285Arg)
c.*3683G>A (n.*3683G>A)
c.3433G>A (p.Gly1145Arg)
c.607G>A (p.Gly203Arg)
c.1646G>A (n.1646G>A)
c.441G>A
c.1309G>A
c.3769G>A (p.Gly1257Arg)
c.3949G>A (p.Gly1317Arg)
c.3616G>A (p.Gly1206Arg)
 ClinVar dbSNP gnomAD v4
7g.117642579G>CCA368975569CFTRc.*68G>C (n.*68G>C)
c.*3573G>C (n.*3573G>C)
c.3676G>C (p.Gly1226Arg)
c.3859G>C (p.Gly1287Arg)
c.*512G>C (n.*512G>C)
c.*520G>C (n.*520G>C)
c.*2234G>C (n.*2234G>C)
c.3853G>C (p.Gly1285Arg)
c.*3683G>C (n.*3683G>C)
c.3433G>C (p.Gly1145Arg)
c.607G>C (p.Gly203Arg)
c.1646G>C (n.1646G>C)
c.441G>C
c.1309G>C
c.3769G>C (p.Gly1257Arg)
c.3949G>C (p.Gly1317Arg)
c.3616G>C (p.Gly1206Arg)
7g.117642579G=CA1737404813CFTRc.*68G= (n.*68G=)
c.*3573G= (n.*3573G=)
c.3676G= (p.Gly1226=)
c.3859G= (p.Gly1287=)
c.*512G= (n.*512G=)
c.*520G= (n.*520G=)
c.*2234G= (n.*2234G=)
c.3853G= (p.Gly1285=)
c.*3683G= (n.*3683G=)
c.3433G= (p.Gly1145=)
c.607G= (p.Gly203=)
c.1646G= (n.1646G=)
c.441G=
c.1309G=
c.3769G= (p.Gly1257=)
c.3949G= (p.Gly1317=)
c.3616G= (p.Gly1206=)
7g.117642579G>TCA368975572CFTRc.*68G>T (n.*68G>T)
c.*3573G>T (n.*3573G>T)
c.3676G>T (p.Gly1226Ter)
c.3859G>T (p.Gly1287Ter)
c.*512G>T (n.*512G>T)
c.*520G>T (n.*520G>T)
c.*2234G>T (n.*2234G>T)
c.3853G>T (p.Gly1285Ter)
c.*3683G>T (n.*3683G>T)
c.3433G>T (p.Gly1145Ter)
c.607G>T (p.Gly203Ter)
c.1646G>T (n.1646G>T)
c.441G>T
c.1309G>T
c.3769G>T (p.Gly1257Ter)
c.3949G>T (p.Gly1317Ter)
c.3616G>T (p.Gly1206Ter)
 ClinVar dbSNP
7g.117642580delCA2695205221CFTRc.*69del (n.*69del)
c.*3574del (n.*3574del)
c.3677del (p.Gly1226GlufsTer2)
c.3860del (p.Gly1287GlufsTer2)
c.*513del (n.*513del)
c.*521del (n.*521del)
c.*2235del (n.*2235del)
c.3854del (p.Gly1285GlufsTer2)
c.*3684del (n.*3684del)
c.3434del (p.Gly1145GlufsTer2)
c.608del (p.Gly203GlufsTer2)
c.1647del (n.1647del)
c.442del
c.1310del
c.3770del (p.Gly1257GlufsTer2)
c.3950del (p.Gly1317GlufsTer2)
c.3617del (p.Gly1206GlufsTer2)
7g.117642580G>ACA368975577CFTRc.*69G>A (n.*69G>A)
c.*3574G>A (n.*3574G>A)
c.3677G>A (p.Gly1226Glu)
c.3860G>A (p.Gly1287Glu)
c.*513G>A (n.*513G>A)
c.*521G>A (n.*521G>A)
c.*2235G>A (n.*2235G>A)
c.3854G>A (p.Gly1285Glu)
c.*3684G>A (n.*3684G>A)
c.3434G>A (p.Gly1145Glu)
c.608G>A (p.Gly203Glu)
c.1647G>A (n.1647G>A)
c.442G>A
c.1310G>A
c.3770G>A (p.Gly1257Glu)
c.3950G>A (p.Gly1317Glu)
c.3617G>A (p.Gly1206Glu)
7g.117642580G>CCA368975580CFTRc.*69G>C (n.*69G>C)
c.*3574G>C (n.*3574G>C)
c.3677G>C (p.Gly1226Ala)
c.3860G>C (p.Gly1287Ala)
c.*513G>C (n.*513G>C)
c.*521G>C (n.*521G>C)
c.*2235G>C (n.*2235G>C)
c.3854G>C (p.Gly1285Ala)
c.*3684G>C (n.*3684G>C)
c.3434G>C (p.Gly1145Ala)
c.608G>C (p.Gly203Ala)
c.1647G>C (n.1647G>C)
c.442G>C
c.1310G>C
c.3770G>C (p.Gly1257Ala)
c.3950G>C (p.Gly1317Ala)
c.3617G>C (p.Gly1206Ala)
7g.117642580G>TCA368975581CFTRc.*69G>T (n.*69G>T)
c.*3574G>T (n.*3574G>T)
c.3677G>T (p.Gly1226Val)
c.3860G>T (p.Gly1287Val)
c.*513G>T (n.*513G>T)
c.*521G>T (n.*521G>T)
c.*2235G>T (n.*2235G>T)
c.3854G>T (p.Gly1285Val)
c.*3684G>T (n.*3684G>T)
c.3434G>T (p.Gly1145Val)
c.608G>T (p.Gly203Val)
c.1647G>T (n.1647G>T)
c.442G>T
c.1310G>T
c.3770G>T (p.Gly1257Val)
c.3950G>T (p.Gly1317Val)
c.3617G>T (p.Gly1206Val)

Number of alleles fetched