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.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)

Number of alleles fetched