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.117642495A>CCA457228113CFTRc.3575A>C (p.Glu1192Ala)
c.*3489A>C (n.*3489A>C)
c.3592A>C (p.Arg1198=)
c.3775A>C (p.Arg1259=)
c.*428A>C (n.*428A>C)
c.*436A>C (n.*436A>C)
c.*2150A>C (n.*2150A>C)
c.3769A>C (p.Arg1257=)
c.*3599A>C (n.*3599A>C)
c.3349A>C (p.Arg1117=)
c.523A>C (p.Arg175=)
c.1562A>C (n.1562A>C)
c.357A>C
c.1225A>C
c.3685A>C (p.Arg1229=)
c.3865A>C (p.Arg1289=)
c.3532A>C (p.Arg1178=)
7g.117642495A>GCA368974749CFTRc.3575A>G (p.Glu1192Gly)
c.*3489A>G (n.*3489A>G)
c.3592A>G (p.Arg1198Gly)
c.3775A>G (p.Arg1259Gly)
c.*428A>G (n.*428A>G)
c.*436A>G (n.*436A>G)
c.*2150A>G (n.*2150A>G)
c.3769A>G (p.Arg1257Gly)
c.*3599A>G (n.*3599A>G)
c.3349A>G (p.Arg1117Gly)
c.523A>G (p.Arg175Gly)
c.1562A>G (n.1562A>G)
c.357A>G
c.1225A>G
c.3685A>G (p.Arg1229Gly)
c.3865A>G (p.Arg1289Gly)
c.3532A>G (p.Arg1178Gly)
7g.117642495A>TCA368974762CFTRc.3575A>T (p.Glu1192Val)
c.*3489A>T (n.*3489A>T)
c.3592A>T (p.Arg1198Ter)
c.3775A>T (p.Arg1259Ter)
c.*428A>T (n.*428A>T)
c.*436A>T (n.*436A>T)
c.*2150A>T (n.*2150A>T)
c.3769A>T (p.Arg1257Ter)
c.*3599A>T (n.*3599A>T)
c.3349A>T (p.Arg1117Ter)
c.523A>T (p.Arg175Ter)
c.1562A>T (n.1562A>T)
c.357A>T
c.1225A>T
c.3685A>T (p.Arg1229Ter)
c.3865A>T (p.Arg1289Ter)
c.3532A>T (p.Arg1178Ter)
7g.117642496G>ACA368974767CFTRc.3576G>A (p.Glu1192=)
c.*3490G>A (n.*3490G>A)
c.3593G>A (p.Arg1198Lys)
c.3776G>A (p.Arg1259Lys)
c.*429G>A (n.*429G>A)
c.*437G>A (n.*437G>A)
c.*2151G>A (n.*2151G>A)
c.3770G>A (p.Arg1257Lys)
c.*3600G>A (n.*3600G>A)
c.3350G>A (p.Arg1117Lys)
c.524G>A (p.Arg175Lys)
c.1563G>A (n.1563G>A)
c.358G>A
c.1226G>A
c.3686G>A (p.Arg1229Lys)
c.3866G>A (p.Arg1289Lys)
c.3533G>A (p.Arg1178Lys)
7g.117642496G>CCA368974774CFTRc.3576G>C (p.Glu1192Asp)
c.*3490G>C (n.*3490G>C)
c.3593G>C (p.Arg1198Thr)
c.3776G>C (p.Arg1259Thr)
c.*429G>C (n.*429G>C)
c.*437G>C (n.*437G>C)
c.*2151G>C (n.*2151G>C)
c.3770G>C (p.Arg1257Thr)
c.*3600G>C (n.*3600G>C)
c.3350G>C (p.Arg1117Thr)
c.524G>C (p.Arg175Thr)
c.1563G>C (n.1563G>C)
c.358G>C
c.1226G>C
c.3686G>C (p.Arg1229Thr)
c.3866G>C (p.Arg1289Thr)
c.3533G>C (p.Arg1178Thr)
 ClinVar dbSNP gnomAD v2
7g.117642496G=CA1737404764CFTRc.3576G= (p.Glu1192=)
c.*3490G= (n.*3490G=)
c.3593G= (p.Arg1198=)
c.3776G= (p.Arg1259=)
c.*429G= (n.*429G=)
c.*437G= (n.*437G=)
c.*2151G= (n.*2151G=)
c.3770G= (p.Arg1257=)
c.*3600G= (n.*3600G=)
c.3350G= (p.Arg1117=)
c.524G= (p.Arg175=)
c.1563G= (n.1563G=)
c.358G=
c.1226G=
c.3686G= (p.Arg1229=)
c.3866G= (p.Arg1289=)
c.3533G= (p.Arg1178=)
7g.117642496G>TCA368974771CFTRc.3576G>T (p.Glu1192Asp)
c.*3490G>T (n.*3490G>T)
c.3593G>T (p.Arg1198Ile)
c.3776G>T (p.Arg1259Ile)
c.*429G>T (n.*429G>T)
c.*437G>T (n.*437G>T)
c.*2151G>T (n.*2151G>T)
c.3770G>T (p.Arg1257Ile)
c.*3600G>T (n.*3600G>T)
c.3350G>T (p.Arg1117Ile)
c.524G>T (p.Arg175Ile)
c.1563G>T (n.1563G>T)
c.358G>T
c.1226G>T
c.3686G>T (p.Arg1229Ile)
c.3866G>T (p.Arg1289Ile)
c.3533G>T (p.Arg1178Ile)
7g.117642496_117642499delinsGACTCA1737404763CFTRc.3576_3579delinsGACT (p.Glu1192=)
c.*3490_*3493delinsGACT (n.*3490_*3493delinsGACT)
c.3593_3596delinsGACT (p.Arg1198=)
c.3776_3779delinsGACT (p.Arg1259=)
c.*429_*432delinsGACT (n.*429_*432delinsGACT)
c.*437_*440delinsGACT (n.*437_*440delinsGACT)
c.*2151_*2154delinsGACT (n.*2151_*2154delinsGACT)
c.3770_3773delinsGACT (p.Arg1257=)
c.*3600_*3603delinsGACT (n.*3600_*3603delinsGACT)
c.3350_3353delinsGACT (p.Arg1117=)
c.524_527delinsGACT (p.Arg175=)
c.1563_1566delinsGACT (n.1563_1566delinsGACT)
c.358_361delinsGACT
c.1226_1229delinsGACT
c.3686_3689delinsGACT (p.Arg1229=)
c.3866_3869delinsGACT (p.Arg1289=)
c.3533_3536delinsGACT (p.Arg1178=)
7g.117642497A>CCA368974776CFTRc.3577A>C (p.Thr1193Pro)
c.*3491A>C (n.*3491A>C)
c.3594A>C (p.Arg1198Ser)
c.3777A>C (p.Arg1259Ser)
c.*430A>C (n.*430A>C)
c.*438A>C (n.*438A>C)
c.*2152A>C (n.*2152A>C)
c.3771A>C (p.Arg1257Ser)
c.*3601A>C (n.*3601A>C)
c.3351A>C (p.Arg1117Ser)
c.525A>C (p.Arg175Ser)
c.1564A>C (n.1564A>C)
c.359A>C
c.1227A>C
c.3687A>C (p.Arg1229Ser)
c.3867A>C (p.Arg1289Ser)
c.3534A>C (p.Arg1178Ser)
7g.117642497A>GCA457228121CFTRc.3577A>G (p.Thr1193Ala)
c.*3491A>G (n.*3491A>G)
c.3594A>G (p.Arg1198=)
c.3777A>G (p.Arg1259=)
c.*430A>G (n.*430A>G)
c.*438A>G (n.*438A>G)
c.*2152A>G (n.*2152A>G)
c.3771A>G (p.Arg1257=)
c.*3601A>G (n.*3601A>G)
c.3351A>G (p.Arg1117=)
c.525A>G (p.Arg175=)
c.1564A>G (n.1564A>G)
c.359A>G
c.1227A>G
c.3687A>G (p.Arg1229=)
c.3867A>G (p.Arg1289=)
c.3534A>G (p.Arg1178=)
 gnomAD v4
7g.117642497A>TCA368974782CFTRc.3577A>T (p.Thr1193Ser)
c.*3491A>T (n.*3491A>T)
c.3594A>T (p.Arg1198Ser)
c.3777A>T (p.Arg1259Ser)
c.*430A>T (n.*430A>T)
c.*438A>T (n.*438A>T)
c.*2152A>T (n.*2152A>T)
c.3771A>T (p.Arg1257Ser)
c.*3601A>T (n.*3601A>T)
c.3351A>T (p.Arg1117Ser)
c.525A>T (p.Arg175Ser)
c.1564A>T (n.1564A>T)
c.359A>T
c.1227A>T
c.3687A>T (p.Arg1229Ser)
c.3867A>T (p.Arg1289Ser)
c.3534A>T (p.Arg1178Ser)
7g.117642500_117642502delCA327292CFTRc.3580_3582del (p.Thr1194del)
c.*3494_*3496del (n.*3494_*3496del)
c.3597_3599del (p.Leu1200del)
c.3780_3782del (p.Leu1261del)
c.*433_*435del (n.*433_*435del)
c.*441_*443del (n.*441_*443del)
c.*2155_*2157del (n.*2155_*2157del)
c.3774_3776del (p.Leu1259del)
c.*3604_*3606del (n.*3604_*3606del)
c.3354_3356del (p.Leu1119del)
c.528_530del (p.Leu177del)
c.1567_1569del (n.1567_1569del)
c.362_364del
c.1230_1232del
c.3690_3692del (p.Leu1231del)
c.3870_3872del (p.Leu1291del)
c.3537_3539del (p.Leu1180del)
 ClinVar dbSNP
7g.117642498C>ACA368974788CFTRc.3578C>A (p.Thr1193Asn)
c.*3492C>A (n.*3492C>A)
c.3595C>A (p.Leu1199Ile)
c.3778C>A (p.Leu1260Ile)
c.*431C>A (n.*431C>A)
c.*439C>A (n.*439C>A)
c.*2153C>A (n.*2153C>A)
c.3772C>A (p.Leu1258Ile)
c.*3602C>A (n.*3602C>A)
c.3352C>A (p.Leu1118Ile)
c.526C>A (p.Leu176Ile)
c.1565C>A (n.1565C>A)
c.360C>A
c.1228C>A
c.3688C>A (p.Leu1230Ile)
c.3868C>A (p.Leu1290Ile)
c.3535C>A (p.Leu1179Ile)
7g.117642498C=CA1737404765CFTRc.3578C= (p.Thr1193=)
c.*3492C= (n.*3492C=)
c.3595C= (p.Leu1199=)
c.3778C= (p.Leu1260=)
c.*431C= (n.*431C=)
c.*439C= (n.*439C=)
c.*2153C= (n.*2153C=)
c.3772C= (p.Leu1258=)
c.*3602C= (n.*3602C=)
c.3352C= (p.Leu1118=)
c.526C= (p.Leu176=)
c.1565C= (n.1565C=)
c.360C=
c.1228C=
c.3688C= (p.Leu1230=)
c.3868C= (p.Leu1290=)
c.3535C= (p.Leu1179=)
7g.117642498C>GCA368974787CFTRc.3578C>G (p.Thr1193Ser)
c.*3492C>G (n.*3492C>G)
c.3595C>G (p.Leu1199Val)
c.3778C>G (p.Leu1260Val)
c.*431C>G (n.*431C>G)
c.*439C>G (n.*439C>G)
c.*2153C>G (n.*2153C>G)
c.3772C>G (p.Leu1258Val)
c.*3602C>G (n.*3602C>G)
c.3352C>G (p.Leu1118Val)
c.526C>G (p.Leu176Val)
c.1565C>G (n.1565C>G)
c.360C>G
c.1228C>G
c.3688C>G (p.Leu1230Val)
c.3868C>G (p.Leu1290Val)
c.3535C>G (p.Leu1179Val)
 dbSNP
7g.117642498C>TCA457228125CFTRc.3578C>T (p.Thr1193Ile)
c.*3492C>T (n.*3492C>T)
c.3595C>T (p.Leu1199=)
c.3778C>T (p.Leu1260=)
c.*431C>T (n.*431C>T)
c.*439C>T (n.*439C>T)
c.*2153C>T (n.*2153C>T)
c.3772C>T (p.Leu1258=)
c.*3602C>T (n.*3602C>T)
c.3352C>T (p.Leu1118=)
c.526C>T (p.Leu176=)
c.1565C>T (n.1565C>T)
c.360C>T
c.1228C>T
c.3688C>T (p.Leu1230=)
c.3868C>T (p.Leu1290=)
c.3535C>T (p.Leu1179=)
7g.117642499T>ACA368974803CFTRc.3579T>A (p.Thr1193=)
c.*3493T>A (n.*3493T>A)
c.3596T>A (p.Leu1199Gln)
c.3779T>A (p.Leu1260Gln)
c.*432T>A (n.*432T>A)
c.*440T>A (n.*440T>A)
c.*2154T>A (n.*2154T>A)
c.3773T>A (p.Leu1258Gln)
c.*3603T>A (n.*3603T>A)
c.3353T>A (p.Leu1118Gln)
c.527T>A (p.Leu176Gln)
c.1566T>A (n.1566T>A)
c.361T>A
c.1229T>A
c.3689T>A (p.Leu1230Gln)
c.3869T>A (p.Leu1290Gln)
c.3536T>A (p.Leu1179Gln)
7g.117642499T>CCA368974798CFTRc.3579T>C (p.Thr1193=)
c.*3493T>C (n.*3493T>C)
c.3596T>C (p.Leu1199Pro)
c.3779T>C (p.Leu1260Pro)
c.*432T>C (n.*432T>C)
c.*440T>C (n.*440T>C)
c.*2154T>C (n.*2154T>C)
c.3773T>C (p.Leu1258Pro)
c.*3603T>C (n.*3603T>C)
c.3353T>C (p.Leu1118Pro)
c.527T>C (p.Leu176Pro)
c.1566T>C (n.1566T>C)
c.361T>C
c.1229T>C
c.3689T>C (p.Leu1230Pro)
c.3869T>C (p.Leu1290Pro)
c.3536T>C (p.Leu1179Pro)
 ClinVar
7g.117642499T>GCA368974793CFTRc.3579T>G (p.Thr1193=)
c.*3493T>G (n.*3493T>G)
c.3596T>G (p.Leu1199Arg)
c.3779T>G (p.Leu1260Arg)
c.*432T>G (n.*432T>G)
c.*440T>G (n.*440T>G)
c.*2154T>G (n.*2154T>G)
c.3773T>G (p.Leu1258Arg)
c.*3603T>G (n.*3603T>G)
c.3353T>G (p.Leu1118Arg)
c.527T>G (p.Leu176Arg)
c.1566T>G (n.1566T>G)
c.361T>G
c.1229T>G
c.3689T>G (p.Leu1230Arg)
c.3869T>G (p.Leu1290Arg)
c.3536T>G (p.Leu1179Arg)
7g.117642500A=CA1737404766CFTRc.3580A= (p.Thr1194=)
c.*3494A= (n.*3494A=)
c.3597A= (p.Leu1199=)
c.3780A= (p.Leu1260=)
c.*433A= (n.*433A=)
c.*441A= (n.*441A=)
c.*2155A= (n.*2155A=)
c.3774A= (p.Leu1258=)
c.*3604A= (n.*3604A=)
c.3354A= (p.Leu1118=)
c.528A= (p.Leu176=)
c.1567A= (n.1567A=)
c.362A=
c.1230A=
c.3690A= (p.Leu1230=)
c.3870A= (p.Leu1290=)
c.3537A= (p.Leu1179=)
7g.117642500A>CCA457228133CFTRc.3580A>C (p.Thr1194Pro)
c.*3494A>C (n.*3494A>C)
c.3597A>C (p.Leu1199=)
c.3780A>C (p.Leu1260=)
c.*433A>C (n.*433A>C)
c.*441A>C (n.*441A>C)
c.*2155A>C (n.*2155A>C)
c.3774A>C (p.Leu1258=)
c.*3604A>C (n.*3604A>C)
c.3354A>C (p.Leu1118=)
c.528A>C (p.Leu176=)
c.1567A>C (n.1567A>C)
c.362A>C
c.1230A>C
c.3690A>C (p.Leu1230=)
c.3870A>C (p.Leu1290=)
c.3537A>C (p.Leu1179=)
 ClinVar dbSNP gnomAD v4
7g.117642500A>GCA164947584CFTRc.3580A>G (p.Thr1194Ala)
c.*3494A>G (n.*3494A>G)
c.3597A>G (p.Leu1199=)
c.3780A>G (p.Leu1260=)
c.*433A>G (n.*433A>G)
c.*441A>G (n.*441A>G)
c.*2155A>G (n.*2155A>G)
c.3774A>G (p.Leu1258=)
c.*3604A>G (n.*3604A>G)
c.3354A>G (p.Leu1118=)
c.528A>G (p.Leu176=)
c.1567A>G (n.1567A>G)
c.362A>G
c.1230A>G
c.3690A>G (p.Leu1230=)
c.3870A>G (p.Leu1290=)
c.3537A>G (p.Leu1179=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117642500A>TCA457228136CFTRc.3580A>T (p.Thr1194Ser)
c.*3494A>T (n.*3494A>T)
c.3597A>T (p.Leu1199=)
c.3780A>T (p.Leu1260=)
c.*433A>T (n.*433A>T)
c.*441A>T (n.*441A>T)
c.*2155A>T (n.*2155A>T)
c.3774A>T (p.Leu1258=)
c.*3604A>T (n.*3604A>T)
c.3354A>T (p.Leu1118=)
c.528A>T (p.Leu176=)
c.1567A>T (n.1567A>T)
c.362A>T
c.1230A>T
c.3690A>T (p.Leu1230=)
c.3870A>T (p.Leu1290=)
c.3537A>T (p.Leu1179=)
7g.117642501C>ACA368974818CFTRc.3581C>A (p.Thr1194Asn)
c.*3495C>A (n.*3495C>A)
c.3598C>A (p.Leu1200Met)
c.3781C>A (p.Leu1261Met)
c.*434C>A (n.*434C>A)
c.*442C>A (n.*442C>A)
c.*2156C>A (n.*2156C>A)
c.3775C>A (p.Leu1259Met)
c.*3605C>A (n.*3605C>A)
c.3355C>A (p.Leu1119Met)
c.529C>A (p.Leu177Met)
c.1568C>A (n.1568C>A)
c.363C>A
c.1231C>A
c.3691C>A (p.Leu1231Met)
c.3871C>A (p.Leu1291Met)
c.3538C>A (p.Leu1180Met)
7g.117642501C>GCA368974819CFTRc.3581C>G (p.Thr1194Ser)
c.*3495C>G (n.*3495C>G)
c.3598C>G (p.Leu1200Val)
c.3781C>G (p.Leu1261Val)
c.*434C>G (n.*434C>G)
c.*442C>G (n.*442C>G)
c.*2156C>G (n.*2156C>G)
c.3775C>G (p.Leu1259Val)
c.*3605C>G (n.*3605C>G)
c.3355C>G (p.Leu1119Val)
c.529C>G (p.Leu177Val)
c.1568C>G (n.1568C>G)
c.363C>G
c.1231C>G
c.3691C>G (p.Leu1231Val)
c.3871C>G (p.Leu1291Val)
c.3538C>G (p.Leu1180Val)
7g.117642501C>TCA457228140CFTRc.3581C>T (p.Thr1194Ile)
c.*3495C>T (n.*3495C>T)
c.3598C>T (p.Leu1200=)
c.3781C>T (p.Leu1261=)
c.*434C>T (n.*434C>T)
c.*442C>T (n.*442C>T)
c.*2156C>T (n.*2156C>T)
c.3775C>T (p.Leu1259=)
c.*3605C>T (n.*3605C>T)
c.3355C>T (p.Leu1119=)
c.529C>T (p.Leu177=)
c.1568C>T (n.1568C>T)
c.363C>T
c.1231C>T
c.3691C>T (p.Leu1231=)
c.3871C>T (p.Leu1291=)
c.3538C>T (p.Leu1180=)
7g.117642502T>ACA368974822CFTRc.3582T>A (p.Thr1194=)
c.*3496T>A (n.*3496T>A)
c.3599T>A (p.Leu1200Gln)
c.3782T>A (p.Leu1261Gln)
c.*435T>A (n.*435T>A)
c.*443T>A (n.*443T>A)
c.*2157T>A (n.*2157T>A)
c.3776T>A (p.Leu1259Gln)
c.*3606T>A (n.*3606T>A)
c.3356T>A (p.Leu1119Gln)
c.530T>A (p.Leu177Gln)
c.1569T>A (n.1569T>A)
c.364T>A
c.1232T>A
c.3692T>A (p.Leu1231Gln)
c.3872T>A (p.Leu1291Gln)
c.3539T>A (p.Leu1180Gln)
7g.117642502T>CCA368974830CFTRc.3582T>C (p.Thr1194=)
c.*3496T>C (n.*3496T>C)
c.3599T>C (p.Leu1200Pro)
c.3782T>C (p.Leu1261Pro)
c.*435T>C (n.*435T>C)
c.*443T>C (n.*443T>C)
c.*2157T>C (n.*2157T>C)
c.3776T>C (p.Leu1259Pro)
c.*3606T>C (n.*3606T>C)
c.3356T>C (p.Leu1119Pro)
c.530T>C (p.Leu177Pro)
c.1569T>C (n.1569T>C)
c.364T>C
c.1232T>C
c.3692T>C (p.Leu1231Pro)
c.3872T>C (p.Leu1291Pro)
c.3539T>C (p.Leu1180Pro)
7g.117642502T>GCA368974826CFTRc.3582T>G (p.Thr1194=)
c.*3496T>G (n.*3496T>G)
c.3599T>G (p.Leu1200Arg)
c.3782T>G (p.Leu1261Arg)
c.*435T>G (n.*435T>G)
c.*443T>G (n.*443T>G)
c.*2157T>G (n.*2157T>G)
c.3776T>G (p.Leu1259Arg)
c.*3606T>G (n.*3606T>G)
c.3356T>G (p.Leu1119Arg)
c.530T>G (p.Leu177Arg)
c.1569T>G (n.1569T>G)
c.364T>G
c.1232T>G
c.3692T>G (p.Leu1231Arg)
c.3872T>G (p.Leu1291Arg)
c.3539T>G (p.Leu1180Arg)
 ClinVar
7g.117642502_117642503delCA2580076346CFTRc.3582_3583del (p.Glu1195ThrfsTer16)
c.*3496_*3497del (n.*3496_*3497del)
c.3599_3600del (p.Leu1200GlnfsTer3)
c.3782_3783del (p.Leu1261GlnfsTer3)
c.*435_*436del (n.*435_*436del)
c.*443_*444del (n.*443_*444del)
c.*2157_*2158del (n.*2157_*2158del)
c.3776_3777del (p.Leu1259GlnfsTer3)
c.*3606_*3607del (n.*3606_*3607del)
c.3356_3357del (p.Leu1119GlnfsTer3)
c.530_531del (p.Leu177GlnfsTer3)
c.1569_1570del (n.1569_1570del)
c.364_365del
c.1232_1233del
c.3692_3693del (p.Leu1231GlnfsTer3)
c.3872_3873del (p.Leu1291GlnfsTer3)
c.3539_3540del (p.Leu1180GlnfsTer3)
 ClinVar
7g.117642503G>ACA457228146CFTRc.3583G>A (p.Glu1195Lys)
c.*3497G>A (n.*3497G>A)
c.3600G>A (p.Leu1200=)
c.3783G>A (p.Leu1261=)
c.*436G>A (n.*436G>A)
c.*444G>A (n.*444G>A)
c.*2158G>A (n.*2158G>A)
c.3777G>A (p.Leu1259=)
c.*3607G>A (n.*3607G>A)
c.3357G>A (p.Leu1119=)
c.531G>A (p.Leu177=)
c.1570G>A (n.1570G>A)
c.365G>A
c.1233G>A
c.3693G>A (p.Leu1231=)
c.3873G>A (p.Leu1291=)
c.3540G>A (p.Leu1180=)
7g.117642503G>CCA457228147CFTRc.3583G>C (p.Glu1195Gln)
c.*3497G>C (n.*3497G>C)
c.3600G>C (p.Leu1200=)
c.3783G>C (p.Leu1261=)
c.*436G>C (n.*436G>C)
c.*444G>C (n.*444G>C)
c.*2158G>C (n.*2158G>C)
c.3777G>C (p.Leu1259=)
c.*3607G>C (n.*3607G>C)
c.3357G>C (p.Leu1119=)
c.531G>C (p.Leu177=)
c.1570G>C (n.1570G>C)
c.365G>C
c.1233G>C
c.3693G>C (p.Leu1231=)
c.3873G>C (p.Leu1291=)
c.3540G>C (p.Leu1180=)
 ClinVar dbSNP gnomAD v4
7g.117642503G=CA1737404767CFTRc.3583G= (p.Glu1195=)
c.*3497G= (n.*3497G=)
c.3600G= (p.Leu1200=)
c.3783G= (p.Leu1261=)
c.*436G= (n.*436G=)
c.*444G= (n.*444G=)
c.*2158G= (n.*2158G=)
c.3777G= (p.Leu1259=)
c.*3607G= (n.*3607G=)
c.3357G= (p.Leu1119=)
c.531G= (p.Leu177=)
c.1570G= (n.1570G=)
c.365G=
c.1233G=
c.3693G= (p.Leu1231=)
c.3873G= (p.Leu1291=)
c.3540G= (p.Leu1180=)
7g.117642503G>TCA4451544CFTRc.3583G>T (p.Glu1195Ter)
c.*3497G>T (n.*3497G>T)
c.3600G>T (p.Leu1200=)
c.3783G>T (p.Leu1261=)
c.*436G>T (n.*436G>T)
c.*444G>T (n.*444G>T)
c.*2158G>T (n.*2158G>T)
c.3777G>T (p.Leu1259=)
c.*3607G>T (n.*3607G>T)
c.3357G>T (p.Leu1119=)
c.531G>T (p.Leu177=)
c.1570G>T (n.1570G>T)
c.365G>T
c.1233G>T
c.3693G>T (p.Leu1231=)
c.3873G>T (p.Leu1291=)
c.3540G>T (p.Leu1180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642504A>CCA368974843CFTRc.3584A>C (p.Glu1195Ala)
c.*3498A>C (n.*3498A>C)
c.3601A>C (p.Asn1201His)
c.3784A>C (p.Asn1262His)
c.*437A>C (n.*437A>C)
c.*445A>C (n.*445A>C)
c.*2159A>C (n.*2159A>C)
c.3778A>C (p.Asn1260His)
c.*3608A>C (n.*3608A>C)
c.3358A>C (p.Asn1120His)
c.532A>C (p.Asn178His)
c.1571A>C (n.1571A>C)
c.366A>C
c.1234A>C
c.3694A>C (p.Asn1232His)
c.3874A>C (p.Asn1292His)
c.3541A>C (p.Asn1181His)
7g.117642504A>GCA368974837CFTRc.3584A>G (p.Glu1195Gly)
c.*3498A>G (n.*3498A>G)
c.3601A>G (p.Asn1201Asp)
c.3784A>G (p.Asn1262Asp)
c.*437A>G (n.*437A>G)
c.*445A>G (n.*445A>G)
c.*2159A>G (n.*2159A>G)
c.3778A>G (p.Asn1260Asp)
c.*3608A>G (n.*3608A>G)
c.3358A>G (p.Asn1120Asp)
c.532A>G (p.Asn178Asp)
c.1571A>G (n.1571A>G)
c.366A>G
c.1234A>G
c.3694A>G (p.Asn1232Asp)
c.3874A>G (p.Asn1292Asp)
c.3541A>G (p.Asn1181Asp)
7g.117642504A>TCA368974847CFTRc.3584A>T (p.Glu1195Val)
c.*3498A>T (n.*3498A>T)
c.3601A>T (p.Asn1201Tyr)
c.3784A>T (p.Asn1262Tyr)
c.*437A>T (n.*437A>T)
c.*445A>T (n.*445A>T)
c.*2159A>T (n.*2159A>T)
c.3778A>T (p.Asn1260Tyr)
c.*3608A>T (n.*3608A>T)
c.3358A>T (p.Asn1120Tyr)
c.532A>T (p.Asn178Tyr)
c.1571A>T (n.1571A>T)
c.366A>T
c.1234A>T
c.3694A>T (p.Asn1232Tyr)
c.3874A>T (p.Asn1292Tyr)
c.3541A>T (p.Asn1181Tyr)
7g.117642505A>CCA368974848CFTRc.3585A>C (p.Glu1195Asp)
c.*3499A>C (n.*3499A>C)
c.3602A>C (p.Asn1201Thr)
c.3785A>C (p.Asn1262Thr)
c.*438A>C (n.*438A>C)
c.*446A>C (n.*446A>C)
c.*2160A>C (n.*2160A>C)
c.3779A>C (p.Asn1260Thr)
c.*3609A>C (n.*3609A>C)
c.3359A>C (p.Asn1120Thr)
c.533A>C (p.Asn178Thr)
c.1572A>C (n.1572A>C)
c.367A>C
c.1235A>C
c.3695A>C (p.Asn1232Thr)
c.3875A>C (p.Asn1292Thr)
c.3542A>C (p.Asn1181Thr)
7g.117642505A>GCA368974849CFTRc.3585A>G (p.Glu1195=)
c.*3499A>G (n.*3499A>G)
c.3602A>G (p.Asn1201Ser)
c.3785A>G (p.Asn1262Ser)
c.*438A>G (n.*438A>G)
c.*446A>G (n.*446A>G)
c.*2160A>G (n.*2160A>G)
c.3779A>G (p.Asn1260Ser)
c.*3609A>G (n.*3609A>G)
c.3359A>G (p.Asn1120Ser)
c.533A>G (p.Asn178Ser)
c.1572A>G (n.1572A>G)
c.367A>G
c.1235A>G
c.3695A>G (p.Asn1232Ser)
c.3875A>G (p.Asn1292Ser)
c.3542A>G (p.Asn1181Ser)
7g.117642505A>TCA368974852CFTRc.3585A>T (p.Glu1195Asp)
c.*3499A>T (n.*3499A>T)
c.3602A>T (p.Asn1201Ile)
c.3785A>T (p.Asn1262Ile)
c.*438A>T (n.*438A>T)
c.*446A>T (n.*446A>T)
c.*2160A>T (n.*2160A>T)
c.3779A>T (p.Asn1260Ile)
c.*3609A>T (n.*3609A>T)
c.3359A>T (p.Asn1120Ile)
c.533A>T (p.Asn178Ile)
c.1572A>T (n.1572A>T)
c.367A>T
c.1235A>T
c.3695A>T (p.Asn1232Ile)
c.3875A>T (p.Asn1292Ile)
c.3542A>T (p.Asn1181Ile)
7g.117642506C>ACA368974855CFTRc.3586C>A (p.His1196Asn)
c.*3500C>A (n.*3500C>A)
c.3603C>A (p.Asn1201Lys)
c.3786C>A (p.Asn1262Lys)
c.*439C>A (n.*439C>A)
c.*447C>A (n.*447C>A)
c.*2161C>A (n.*2161C>A)
c.3780C>A (p.Asn1260Lys)
c.*3610C>A (n.*3610C>A)
c.3360C>A (p.Asn1120Lys)
c.534C>A (p.Asn178Lys)
c.1573C>A (n.1573C>A)
c.368C>A
c.1236C>A
c.3696C>A (p.Asn1232Lys)
c.3876C>A (p.Asn1292Lys)
c.3543C>A (p.Asn1181Lys)
7g.117642506C>GCA368974859CFTRc.3586C>G (p.His1196Asp)
c.*3500C>G (n.*3500C>G)
c.3603C>G (p.Asn1201Lys)
c.3786C>G (p.Asn1262Lys)
c.*439C>G (n.*439C>G)
c.*447C>G (n.*447C>G)
c.*2161C>G (n.*2161C>G)
c.3780C>G (p.Asn1260Lys)
c.*3610C>G (n.*3610C>G)
c.3360C>G (p.Asn1120Lys)
c.534C>G (p.Asn178Lys)
c.1573C>G (n.1573C>G)
c.368C>G
c.1236C>G
c.3696C>G (p.Asn1232Lys)
c.3876C>G (p.Asn1292Lys)
c.3543C>G (p.Asn1181Lys)
7g.117642506C>TCA457228161CFTRc.3586C>T (p.His1196Tyr)
c.*3500C>T (n.*3500C>T)
c.3603C>T (p.Asn1201=)
c.3786C>T (p.Asn1262=)
c.*439C>T (n.*439C>T)
c.*447C>T (n.*447C>T)
c.*2161C>T (n.*2161C>T)
c.3780C>T (p.Asn1260=)
c.*3610C>T (n.*3610C>T)
c.3360C>T (p.Asn1120=)
c.534C>T (p.Asn178=)
c.1573C>T (n.1573C>T)
c.368C>T
c.1236C>T
c.3696C>T (p.Asn1232=)
c.3876C>T (p.Asn1292=)
c.3543C>T (p.Asn1181=)
7g.117642507A=CA1737404769CFTRc.3587A= (p.His1196=)
c.*3501A= (n.*3501A=)
c.3604A= (p.Thr1202=)
c.3787A= (p.Thr1263=)
c.*440A= (n.*440A=)
c.*448A= (n.*448A=)
c.*2162A= (n.*2162A=)
c.3781A= (p.Thr1261=)
c.*3611A= (n.*3611A=)
c.3361A= (p.Thr1121=)
c.535A= (p.Thr179=)
c.1574A= (n.1574A=)
c.369A=
c.1237A=
c.3697A= (p.Thr1233=)
c.3877A= (p.Thr1293=)
c.3544A= (p.Thr1182=)
7g.117642507A>CCA368974863CFTRc.3587A>C (p.His1196Pro)
c.*3501A>C (n.*3501A>C)
c.3604A>C (p.Thr1202Pro)
c.3787A>C (p.Thr1263Pro)
c.*440A>C (n.*440A>C)
c.*448A>C (n.*448A>C)
c.*2162A>C (n.*2162A>C)
c.3781A>C (p.Thr1261Pro)
c.*3611A>C (n.*3611A>C)
c.3361A>C (p.Thr1121Pro)
c.535A>C (p.Thr179Pro)
c.1574A>C (n.1574A>C)
c.369A>C
c.1237A>C
c.3697A>C (p.Thr1233Pro)
c.3877A>C (p.Thr1293Pro)
c.3544A>C (p.Thr1182Pro)
7g.117642507A>GCA368974865CFTRc.3587A>G (p.His1196Arg)
c.*3501A>G (n.*3501A>G)
c.3604A>G (p.Thr1202Ala)
c.3787A>G (p.Thr1263Ala)
c.*440A>G (n.*440A>G)
c.*448A>G (n.*448A>G)
c.*2162A>G (n.*2162A>G)
c.3781A>G (p.Thr1261Ala)
c.*3611A>G (n.*3611A>G)
c.3361A>G (p.Thr1121Ala)
c.535A>G (p.Thr179Ala)
c.1574A>G (n.1574A>G)
c.369A>G
c.1237A>G
c.3697A>G (p.Thr1233Ala)
c.3877A>G (p.Thr1293Ala)
c.3544A>G (p.Thr1182Ala)
 ClinVar dbSNP
7g.117642507A>TCA368974868CFTRc.3587A>T (p.His1196Leu)
c.*3501A>T (n.*3501A>T)
c.3604A>T (p.Thr1202Ser)
c.3787A>T (p.Thr1263Ser)
c.*440A>T (n.*440A>T)
c.*448A>T (n.*448A>T)
c.*2162A>T (n.*2162A>T)
c.3781A>T (p.Thr1261Ser)
c.*3611A>T (n.*3611A>T)
c.3361A>T (p.Thr1121Ser)
c.535A>T (p.Thr179Ser)
c.1574A>T (n.1574A>T)
c.369A>T
c.1237A>T
c.3697A>T (p.Thr1233Ser)
c.3877A>T (p.Thr1293Ser)
c.3544A>T (p.Thr1182Ser)

Number of alleles fetched