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.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.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

Number of alleles fetched