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.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.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.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)

Number of alleles fetched