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.117642481T>ACA368974631CFTRc.3561T>A (p.Val1187=)
c.*3475T>A (n.*3475T>A)
c.3578T>A (p.Leu1193Ter)
c.3761T>A (p.Leu1254Ter)
c.*414T>A (n.*414T>A)
c.*422T>A (n.*422T>A)
c.*2136T>A (n.*2136T>A)
c.3755T>A (p.Leu1252Ter)
c.*3585T>A (n.*3585T>A)
c.3335T>A (p.Leu1112Ter)
c.509T>A (p.Leu170Ter)
c.1548T>A (n.1548T>A)
c.343T>A
c.1211T>A
c.3671T>A (p.Leu1224Ter)
c.3851T>A (p.Leu1284Ter)
c.3518T>A (p.Leu1173Ter)
7g.117642481T>CCA368974634CFTRc.3561T>C (p.Val1187=)
c.*3475T>C (n.*3475T>C)
c.3578T>C (p.Leu1193Ser)
c.3761T>C (p.Leu1254Ser)
c.*414T>C (n.*414T>C)
c.*422T>C (n.*422T>C)
c.*2136T>C (n.*2136T>C)
c.3755T>C (p.Leu1252Ser)
c.*3585T>C (n.*3585T>C)
c.3335T>C (p.Leu1112Ser)
c.509T>C (p.Leu170Ser)
c.1548T>C (n.1548T>C)
c.343T>C
c.1211T>C
c.3671T>C (p.Leu1224Ser)
c.3851T>C (p.Leu1284Ser)
c.3518T>C (p.Leu1173Ser)
7g.117642481T>GCA327280CFTRc.3561T>G (p.Val1187=)
c.*3475T>G (n.*3475T>G)
c.3578T>G (p.Leu1193Ter)
c.3761T>G (p.Leu1254Ter)
c.*414T>G (n.*414T>G)
c.*422T>G (n.*422T>G)
c.*2136T>G (n.*2136T>G)
c.3755T>G (p.Leu1252Ter)
c.*3585T>G (n.*3585T>G)
c.3335T>G (p.Leu1112Ter)
c.509T>G (p.Leu170Ter)
c.1548T>G (n.1548T>G)
c.343T>G
c.1211T>G
c.3671T>G (p.Leu1224Ter)
c.3851T>G (p.Leu1284Ter)
c.3518T>G (p.Leu1173Ter)
ClinVar dbSNP gnomAD v4
7g.117642481T=CA1737404752CFTRc.3561T= (p.Val1187=)
c.*3475T= (n.*3475T=)
c.3578T= (p.Leu1193=)
c.3761T= (p.Leu1254=)
c.*414T= (n.*414T=)
c.*422T= (n.*422T=)
c.*2136T= (n.*2136T=)
c.3755T= (p.Leu1252=)
c.*3585T= (n.*3585T=)
c.3335T= (p.Leu1112=)
c.509T= (p.Leu170=)
c.1548T= (n.1548T=)
c.343T=
c.1211T=
c.3671T= (p.Leu1224=)
c.3851T= (p.Leu1284=)
c.3518T= (p.Leu1173=)
7g.117642482A=CA1737404753CFTRc.3562A= (p.Ile1188=)
c.*3476A= (n.*3476A=)
c.3579A= (p.Leu1193=)
c.3762A= (p.Leu1254=)
c.*415A= (n.*415A=)
c.*423A= (n.*423A=)
c.*2137A= (n.*2137A=)
c.3756A= (p.Leu1252=)
c.*3586A= (n.*3586A=)
c.3336A= (p.Leu1112=)
c.510A= (p.Leu170=)
c.1549A= (n.1549A=)
c.344A=
c.1212A=
c.3672A= (p.Leu1224=)
c.3852A= (p.Leu1284=)
c.3519A= (p.Leu1173=)
7g.117642482A>CCA368974641CFTRc.3562A>C (p.Ile1188Leu)
c.*3476A>C (n.*3476A>C)
c.3579A>C (p.Leu1193Phe)
c.3762A>C (p.Leu1254Phe)
c.*415A>C (n.*415A>C)
c.*423A>C (n.*423A>C)
c.*2137A>C (n.*2137A>C)
c.3756A>C (p.Leu1252Phe)
c.*3586A>C (n.*3586A>C)
c.3336A>C (p.Leu1112Phe)
c.510A>C (p.Leu170Phe)
c.1549A>C (n.1549A>C)
c.344A>C
c.1212A>C
c.3672A>C (p.Leu1224Phe)
c.3852A>C (p.Leu1284Phe)
c.3519A>C (p.Leu1173Phe)
7g.117642482A>GCA457228081CFTRc.3562A>G (p.Ile1188Val)
c.*3476A>G (n.*3476A>G)
c.3579A>G (p.Leu1193=)
c.3762A>G (p.Leu1254=)
c.*415A>G (n.*415A>G)
c.*423A>G (n.*423A>G)
c.*2137A>G (n.*2137A>G)
c.3756A>G (p.Leu1252=)
c.*3586A>G (n.*3586A>G)
c.3336A>G (p.Leu1112=)
c.510A>G (p.Leu170=)
c.1549A>G (n.1549A>G)
c.344A>G
c.1212A>G
c.3672A>G (p.Leu1224=)
c.3852A>G (p.Leu1284=)
c.3519A>G (p.Leu1173=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117642482A>TCA4451542CFTRc.3562A>T (p.Ile1188Phe)
c.*3476A>T (n.*3476A>T)
c.3579A>T (p.Leu1193Phe)
c.3762A>T (p.Leu1254Phe)
c.*415A>T (n.*415A>T)
c.*423A>T (n.*423A>T)
c.*2137A>T (n.*2137A>T)
c.3756A>T (p.Leu1252Phe)
c.*3586A>T (n.*3586A>T)
c.3336A>T (p.Leu1112Phe)
c.510A>T (p.Leu170Phe)
c.1549A>T (n.1549A>T)
c.344A>T
c.1212A>T
c.3672A>T (p.Leu1224Phe)
c.3852A>T (p.Leu1284Phe)
c.3519A>T (p.Leu1173Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642483T>ACA368974648CFTRc.3563T>A (p.Ile1188Asn)
c.*3477T>A (n.*3477T>A)
c.3580T>A (p.Ser1194Thr)
c.3763T>A (p.Ser1255Thr)
c.*416T>A (n.*416T>A)
c.*424T>A (n.*424T>A)
c.*2138T>A (n.*2138T>A)
c.3757T>A (p.Ser1253Thr)
c.*3587T>A (n.*3587T>A)
c.3337T>A (p.Ser1113Thr)
c.511T>A (p.Ser171Thr)
c.1550T>A (n.1550T>A)
c.345T>A
c.1213T>A
c.3673T>A (p.Ser1225Thr)
c.3853T>A (p.Ser1285Thr)
c.3520T>A (p.Ser1174Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117642483T>CCA325580CFTRc.3563T>C (p.Ile1188Thr)
c.*3477T>C (n.*3477T>C)
c.3580T>C (p.Ser1194Pro)
c.3763T>C (p.Ser1255Pro)
c.*416T>C (n.*416T>C)
c.*424T>C (n.*424T>C)
c.*2138T>C (n.*2138T>C)
c.3757T>C (p.Ser1253Pro)
c.*3587T>C (n.*3587T>C)
c.3337T>C (p.Ser1113Pro)
c.511T>C (p.Ser171Pro)
c.1550T>C (n.1550T>C)
c.345T>C
c.1213T>C
c.3673T>C (p.Ser1225Pro)
c.3853T>C (p.Ser1285Pro)
c.3520T>C (p.Ser1174Pro)
ClinVar dbSNP
7g.117642483T>GCA368974659CFTRc.3563T>G (p.Ile1188Ser)
c.*3477T>G (n.*3477T>G)
c.3580T>G (p.Ser1194Ala)
c.3763T>G (p.Ser1255Ala)
c.*416T>G (n.*416T>G)
c.*424T>G (n.*424T>G)
c.*2138T>G (n.*2138T>G)
c.3757T>G (p.Ser1253Ala)
c.*3587T>G (n.*3587T>G)
c.3337T>G (p.Ser1113Ala)
c.511T>G (p.Ser171Ala)
c.1550T>G (n.1550T>G)
c.345T>G
c.1213T>G
c.3673T>G (p.Ser1225Ala)
c.3853T>G (p.Ser1285Ala)
c.3520T>G (p.Ser1174Ala)
7g.117642483T=CA1737404754CFTRc.3563T= (p.Ile1188=)
c.*3477T= (n.*3477T=)
c.3580T= (p.Ser1194=)
c.3763T= (p.Ser1255=)
c.*416T= (n.*416T=)
c.*424T= (n.*424T=)
c.*2138T= (n.*2138T=)
c.3757T= (p.Ser1253=)
c.*3587T= (n.*3587T=)
c.3337T= (p.Ser1113=)
c.511T= (p.Ser171=)
c.1550T= (n.1550T=)
c.345T=
c.1213T=
c.3673T= (p.Ser1225=)
c.3853T= (p.Ser1285=)
c.3520T= (p.Ser1174=)
7g.117642484C>ACA325525CFTRc.3564C>A (p.Ile1188=)
c.*3478C>A (n.*3478C>A)
c.3581C>A (p.Ser1194Ter)
c.3764C>A (p.Ser1255Ter)
c.*417C>A (n.*417C>A)
c.*425C>A (n.*425C>A)
c.*2139C>A (n.*2139C>A)
c.3758C>A (p.Ser1253Ter)
c.*3588C>A (n.*3588C>A)
c.3338C>A (p.Ser1113Ter)
c.512C>A (p.Ser171Ter)
c.1551C>A (n.1551C>A)
c.346C>A
c.1214C>A
c.3674C>A (p.Ser1225Ter)
c.3854C>A (p.Ser1285Ter)
c.3521C>A (p.Ser1174Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117642484C=CA1737404755CFTRc.3564C= (p.Ile1188=)
c.*3478C= (n.*3478C=)
c.3581C= (p.Ser1194=)
c.3764C= (p.Ser1255=)
c.*417C= (n.*417C=)
c.*425C= (n.*425C=)
c.*2139C= (n.*2139C=)
c.3758C= (p.Ser1253=)
c.*3588C= (n.*3588C=)
c.3338C= (p.Ser1113=)
c.512C= (p.Ser171=)
c.1551C= (n.1551C=)
c.346C=
c.1214C=
c.3674C= (p.Ser1225=)
c.3854C= (p.Ser1285=)
c.3521C= (p.Ser1174=)
7g.117642484C>GCA368974665CFTRc.3564C>G (p.Ile1188Met)
c.*3478C>G (n.*3478C>G)
c.3581C>G (p.Ser1194Ter)
c.3764C>G (p.Ser1255Ter)
c.*417C>G (n.*417C>G)
c.*425C>G (n.*425C>G)
c.*2139C>G (n.*2139C>G)
c.3758C>G (p.Ser1253Ter)
c.*3588C>G (n.*3588C>G)
c.3338C>G (p.Ser1113Ter)
c.512C>G (p.Ser171Ter)
c.1551C>G (n.1551C>G)
c.346C>G
c.1214C>G
c.3674C>G (p.Ser1225Ter)
c.3854C>G (p.Ser1285Ter)
c.3521C>G (p.Ser1174Ter)
COSMIC
7g.117642484C>TCA327282CFTRc.3564C>T (p.Ile1188=)
c.*3478C>T (n.*3478C>T)
c.3581C>T (p.Ser1194Leu)
c.3764C>T (p.Ser1255Leu)
c.*417C>T (n.*417C>T)
c.*425C>T (n.*425C>T)
c.*2139C>T (n.*2139C>T)
c.3758C>T (p.Ser1253Leu)
c.*3588C>T (n.*3588C>T)
c.3338C>T (p.Ser1113Leu)
c.512C>T (p.Ser171Leu)
c.1551C>T (n.1551C>T)
c.346C>T
c.1214C>T
c.3674C>T (p.Ser1225Leu)
c.3854C>T (p.Ser1285Leu)
c.3521C>T (p.Ser1174Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117642485A=CA1737404756CFTRc.3565A= (p.Ser1189=)
c.*3479A= (n.*3479A=)
c.3582A= (p.Ser1194=)
c.3765A= (p.Ser1255=)
c.*418A= (n.*418A=)
c.*426A= (n.*426A=)
c.*2140A= (n.*2140A=)
c.3759A= (p.Ser1253=)
c.*3589A= (n.*3589A=)
c.3339A= (p.Ser1113=)
c.513A= (p.Ser171=)
c.1552A= (n.1552A=)
c.347A=
c.1215A=
c.3675A= (p.Ser1225=)
c.3855A= (p.Ser1285=)
c.3522A= (p.Ser1174=)
7g.117642485A>CCA457228082CFTRc.3565A>C (p.Ser1189Arg)
c.*3479A>C (n.*3479A>C)
c.3582A>C (p.Ser1194=)
c.3765A>C (p.Ser1255=)
c.*418A>C (n.*418A>C)
c.*426A>C (n.*426A>C)
c.*2140A>C (n.*2140A>C)
c.3759A>C (p.Ser1253=)
c.*3589A>C (n.*3589A>C)
c.3339A>C (p.Ser1113=)
c.513A>C (p.Ser171=)
c.1552A>C (n.1552A>C)
c.347A>C
c.1215A>C
c.3675A>C (p.Ser1225=)
c.3855A>C (p.Ser1285=)
c.3522A>C (p.Ser1174=)
7g.117642485A>GCA164947550CFTRc.3565A>G (p.Ser1189Gly)
c.*3479A>G (n.*3479A>G)
c.3582A>G (p.Ser1194=)
c.3765A>G (p.Ser1255=)
c.*418A>G (n.*418A>G)
c.*426A>G (n.*426A>G)
c.*2140A>G (n.*2140A>G)
c.3759A>G (p.Ser1253=)
c.*3589A>G (n.*3589A>G)
c.3339A>G (p.Ser1113=)
c.513A>G (p.Ser171=)
c.1552A>G (n.1552A>G)
c.347A>G
c.1215A>G
c.3675A>G (p.Ser1225=)
c.3855A>G (p.Ser1285=)
c.3522A>G (p.Ser1174=)
dbSNP gnomAD v4
7g.117642485A>TCA457228083CFTRc.3565A>T (p.Ser1189Cys)
c.*3479A>T (n.*3479A>T)
c.3582A>T (p.Ser1194=)
c.3765A>T (p.Ser1255=)
c.*418A>T (n.*418A>T)
c.*426A>T (n.*426A>T)
c.*2140A>T (n.*2140A>T)
c.3759A>T (p.Ser1253=)
c.*3589A>T (n.*3589A>T)
c.3339A>T (p.Ser1113=)
c.513A>T (p.Ser171=)
c.1552A>T (n.1552A>T)
c.347A>T
c.1215A>T
c.3675A>T (p.Ser1225=)
c.3855A>T (p.Ser1285=)
c.3522A>T (p.Ser1174=)
7g.117642486G>ACA368974670CFTRc.3566G>A (p.Ser1189Asn)
c.*3480G>A (n.*3480G>A)
c.3583G>A (p.Ala1195Thr)
c.3766G>A (p.Ala1256Thr)
c.*419G>A (n.*419G>A)
c.*427G>A (n.*427G>A)
c.*2141G>A (n.*2141G>A)
c.3760G>A (p.Ala1254Thr)
c.*3590G>A (n.*3590G>A)
c.3340G>A (p.Ala1114Thr)
c.514G>A (p.Ala172Thr)
c.1553G>A (n.1553G>A)
c.348G>A
c.1216G>A
c.3676G>A (p.Ala1226Thr)
c.3856G>A (p.Ala1286Thr)
c.3523G>A (p.Ala1175Thr)
7g.117642486G>CCA368974676CFTRc.3566G>C (p.Ser1189Thr)
c.*3480G>C (n.*3480G>C)
c.3583G>C (p.Ala1195Pro)
c.3766G>C (p.Ala1256Pro)
c.*419G>C (n.*419G>C)
c.*427G>C (n.*427G>C)
c.*2141G>C (n.*2141G>C)
c.3760G>C (p.Ala1254Pro)
c.*3590G>C (n.*3590G>C)
c.3340G>C (p.Ala1114Pro)
c.514G>C (p.Ala172Pro)
c.1553G>C (n.1553G>C)
c.348G>C
c.1216G>C
c.3676G>C (p.Ala1226Pro)
c.3856G>C (p.Ala1286Pro)
c.3523G>C (p.Ala1175Pro)
7g.117642486G=CA1737404757CFTRc.3566G= (p.Ser1189=)
c.*3480G= (n.*3480G=)
c.3583G= (p.Ala1195=)
c.3766G= (p.Ala1256=)
c.*419G= (n.*419G=)
c.*427G= (n.*427G=)
c.*2141G= (n.*2141G=)
c.3760G= (p.Ala1254=)
c.*3590G= (n.*3590G=)
c.3340G= (p.Ala1114=)
c.514G= (p.Ala172=)
c.1553G= (n.1553G=)
c.348G=
c.1216G=
c.3676G= (p.Ala1226=)
c.3856G= (p.Ala1286=)
c.3523G= (p.Ala1175=)
7g.117642486G>TCA368974678CFTRc.3566G>T (p.Ser1189Ile)
c.*3480G>T (n.*3480G>T)
c.3583G>T (p.Ala1195Ser)
c.3766G>T (p.Ala1256Ser)
c.*419G>T (n.*419G>T)
c.*427G>T (n.*427G>T)
c.*2141G>T (n.*2141G>T)
c.3760G>T (p.Ala1254Ser)
c.*3590G>T (n.*3590G>T)
c.3340G>T (p.Ala1114Ser)
c.514G>T (p.Ala172Ser)
c.1553G>T (n.1553G>T)
c.348G>T
c.1216G>T
c.3676G>T (p.Ala1226Ser)
c.3856G>T (p.Ala1286Ser)
c.3523G>T (p.Ala1175Ser)
7g.117642487C>ACA368974688CFTRc.3567C>A (p.Ser1189Arg)
c.*3481C>A (n.*3481C>A)
c.3584C>A (p.Ala1195Asp)
c.3767C>A (p.Ala1256Asp)
c.*420C>A (n.*420C>A)
c.*428C>A (n.*428C>A)
c.*2142C>A (n.*2142C>A)
c.3761C>A (p.Ala1254Asp)
c.*3591C>A (n.*3591C>A)
c.3341C>A (p.Ala1114Asp)
c.515C>A (p.Ala172Asp)
c.1554C>A (n.1554C>A)
c.349C>A
c.1217C>A
c.3677C>A (p.Ala1226Asp)
c.3857C>A (p.Ala1286Asp)
c.3524C>A (p.Ala1175Asp)
7g.117642487C=CA1737404758CFTRc.3567C= (p.Ser1189=)
c.*3481C= (n.*3481C=)
c.3584C= (p.Ala1195=)
c.3767C= (p.Ala1256=)
c.*420C= (n.*420C=)
c.*428C= (n.*428C=)
c.*2142C= (n.*2142C=)
c.3761C= (p.Ala1254=)
c.*3591C= (n.*3591C=)
c.3341C= (p.Ala1114=)
c.515C= (p.Ala172=)
c.1554C= (n.1554C=)
c.349C=
c.1217C=
c.3677C= (p.Ala1226=)
c.3857C= (p.Ala1286=)
c.3524C= (p.Ala1175=)
7g.117642487C>GCA368974691CFTRc.3567C>G (p.Ser1189Arg)
c.*3481C>G (n.*3481C>G)
c.3584C>G (p.Ala1195Gly)
c.3767C>G (p.Ala1256Gly)
c.*420C>G (n.*420C>G)
c.*428C>G (n.*428C>G)
c.*2142C>G (n.*2142C>G)
c.3761C>G (p.Ala1254Gly)
c.*3591C>G (n.*3591C>G)
c.3341C>G (p.Ala1114Gly)
c.515C>G (p.Ala172Gly)
c.1554C>G (n.1554C>G)
c.349C>G
c.1217C>G
c.3677C>G (p.Ala1226Gly)
c.3857C>G (p.Ala1286Gly)
c.3524C>G (p.Ala1175Gly)
ClinVar dbSNP
7g.117642487C>TCA4451543CFTRc.3567C>T (p.Ser1189=)
c.*3481C>T (n.*3481C>T)
c.3584C>T (p.Ala1195Val)
c.3767C>T (p.Ala1256Val)
c.*420C>T (n.*420C>T)
c.*428C>T (n.*428C>T)
c.*2142C>T (n.*2142C>T)
c.3761C>T (p.Ala1254Val)
c.*3591C>T (n.*3591C>T)
c.3341C>T (p.Ala1114Val)
c.515C>T (p.Ala172Val)
c.1554C>T (n.1554C>T)
c.349C>T
c.1217C>T
c.3677C>T (p.Ala1226Val)
c.3857C>T (p.Ala1286Val)
c.3524C>T (p.Ala1175Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117642487dupCA325569CFTRc.3567dup (p.Phe1190LeufsTer3)
c.*3481dup (n.*3481dup)
c.3584dup (p.Leu1197PhefsTer7)
c.3767dup (p.Leu1258PhefsTer7)
c.*420dup (n.*420dup)
c.*428dup (n.*428dup)
c.*2142dup (n.*2142dup)
c.3761dup (p.Leu1256PhefsTer7)
c.*3591dup (n.*3591dup)
c.3341dup (p.Leu1116PhefsTer7)
c.515dup (p.Leu174PhefsTer7)
c.1554dup (n.1554dup)
c.349dup
c.1217dup
c.3677dup (p.Leu1228PhefsTer7)
c.3857dup (p.Leu1288PhefsTer7)
c.3524dup (p.Leu1177PhefsTer7)
ClinVar dbSNP
7g.117642488T>ACA457228086CFTRc.3568T>A (p.Phe1190Ile)
c.*3482T>A (n.*3482T>A)
c.3585T>A (p.Ala1195=)
c.3768T>A (p.Ala1256=)
c.*421T>A (n.*421T>A)
c.*429T>A (n.*429T>A)
c.*2143T>A (n.*2143T>A)
c.3762T>A (p.Ala1254=)
c.*3592T>A (n.*3592T>A)
c.3342T>A (p.Ala1114=)
c.516T>A (p.Ala172=)
c.1555T>A (n.1555T>A)
c.350T>A
c.1218T>A
c.3678T>A (p.Ala1226=)
c.3858T>A (p.Ala1286=)
c.3525T>A (p.Ala1175=)
dbSNP gnomAD v4
7g.117642488T>CCA457228085CFTRc.3568T>C (p.Phe1190Leu)
c.*3482T>C (n.*3482T>C)
c.3585T>C (p.Ala1195=)
c.3768T>C (p.Ala1256=)
c.*421T>C (n.*421T>C)
c.*429T>C (n.*429T>C)
c.*2143T>C (n.*2143T>C)
c.3762T>C (p.Ala1254=)
c.*3592T>C (n.*3592T>C)
c.3342T>C (p.Ala1114=)
c.516T>C (p.Ala172=)
c.1555T>C (n.1555T>C)
c.350T>C
c.1218T>C
c.3678T>C (p.Ala1226=)
c.3858T>C (p.Ala1286=)
c.3525T>C (p.Ala1175=)
7g.117642488T>GCA457228084CFTRc.3568T>G (p.Phe1190Val)
c.*3482T>G (n.*3482T>G)
c.3585T>G (p.Ala1195=)
c.3768T>G (p.Ala1256=)
c.*421T>G (n.*421T>G)
c.*429T>G (n.*429T>G)
c.*2143T>G (n.*2143T>G)
c.3762T>G (p.Ala1254=)
c.*3592T>G (n.*3592T>G)
c.3342T>G (p.Ala1114=)
c.516T>G (p.Ala172=)
c.1555T>G (n.1555T>G)
c.350T>G
c.1218T>G
c.3678T>G (p.Ala1226=)
c.3858T>G (p.Ala1286=)
c.3525T>G (p.Ala1175=)
7g.117642493dupCA327288CFTRc.3573dup (p.Glu1192Ter)
c.*3487dup (n.*3487dup)
c.3590dup (p.Leu1197PhefsTer7)
c.3773dup (p.Leu1258PhefsTer7)
c.*426dup (n.*426dup)
c.*434dup (n.*434dup)
c.*2148dup (n.*2148dup)
c.3767dup (p.Leu1256PhefsTer7)
c.*3597dup (n.*3597dup)
c.3347dup (p.Leu1116PhefsTer7)
c.521dup (p.Leu174PhefsTer7)
c.1560dup (n.1560dup)
c.355dup
c.1223dup
c.3683dup (p.Leu1228PhefsTer7)
c.3863dup (p.Leu1288PhefsTer7)
c.3530dup (p.Leu1177PhefsTer7)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117642489T>ACA368974704CFTRc.3569T>A (p.Phe1190Tyr)
c.*3483T>A (n.*3483T>A)
c.3586T>A (p.Phe1196Ile)
c.3769T>A (p.Phe1257Ile)
c.*422T>A (n.*422T>A)
c.*430T>A (n.*430T>A)
c.*2144T>A (n.*2144T>A)
c.3763T>A (p.Phe1255Ile)
c.*3593T>A (n.*3593T>A)
c.3343T>A (p.Phe1115Ile)
c.517T>A (p.Phe173Ile)
c.1556T>A (n.1556T>A)
c.351T>A
c.1219T>A
c.3679T>A (p.Phe1227Ile)
c.3859T>A (p.Phe1287Ile)
c.3526T>A (p.Phe1176Ile)
7g.117642489T>CCA164947572CFTRc.3569T>C (p.Phe1190Ser)
c.*3483T>C (n.*3483T>C)
c.3586T>C (p.Phe1196Leu)
c.3769T>C (p.Phe1257Leu)
c.*422T>C (n.*422T>C)
c.*430T>C (n.*430T>C)
c.*2144T>C (n.*2144T>C)
c.3763T>C (p.Phe1255Leu)
c.*3593T>C (n.*3593T>C)
c.3343T>C (p.Phe1115Leu)
c.517T>C (p.Phe173Leu)
c.1556T>C (n.1556T>C)
c.351T>C
c.1219T>C
c.3679T>C (p.Phe1227Leu)
c.3859T>C (p.Phe1287Leu)
c.3526T>C (p.Phe1176Leu)
dbSNP
7g.117642489T>GCA368974705CFTRc.3569T>G (p.Phe1190Cys)
c.*3483T>G (n.*3483T>G)
c.3586T>G (p.Phe1196Val)
c.3769T>G (p.Phe1257Val)
c.*422T>G (n.*422T>G)
c.*430T>G (n.*430T>G)
c.*2144T>G (n.*2144T>G)
c.3763T>G (p.Phe1255Val)
c.*3593T>G (n.*3593T>G)
c.3343T>G (p.Phe1115Val)
c.517T>G (p.Phe173Val)
c.1556T>G (n.1556T>G)
c.351T>G
c.1219T>G
c.3679T>G (p.Phe1227Val)
c.3859T>G (p.Phe1287Val)
c.3526T>G (p.Phe1176Val)
7g.117642489T=CA1737404759CFTRc.3569T= (p.Phe1190=)
c.*3483T= (n.*3483T=)
c.3586T= (p.Phe1196=)
c.3769T= (p.Phe1257=)
c.*422T= (n.*422T=)
c.*430T= (n.*430T=)
c.*2144T= (n.*2144T=)
c.3763T= (p.Phe1255=)
c.*3593T= (n.*3593T=)
c.3343T= (p.Phe1115=)
c.517T= (p.Phe173=)
c.1556T= (n.1556T=)
c.351T=
c.1219T=
c.3679T= (p.Phe1227=)
c.3859T= (p.Phe1287=)
c.3526T= (p.Phe1176=)
7g.117642490T>ACA368974709CFTRc.3570T>A (p.Phe1190Leu)
c.*3484T>A (n.*3484T>A)
c.3587T>A (p.Phe1196Tyr)
c.3770T>A (p.Phe1257Tyr)
c.*423T>A (n.*423T>A)
c.*431T>A (n.*431T>A)
c.*2145T>A (n.*2145T>A)
c.3764T>A (p.Phe1255Tyr)
c.*3594T>A (n.*3594T>A)
c.3344T>A (p.Phe1115Tyr)
c.518T>A (p.Phe173Tyr)
c.1557T>A (n.1557T>A)
c.352T>A
c.1220T>A
c.3680T>A (p.Phe1227Tyr)
c.3860T>A (p.Phe1287Tyr)
c.3527T>A (p.Phe1176Tyr)
7g.117642490T>CCA368974711CFTRc.3570T>C (p.Phe1190=)
c.*3484T>C (n.*3484T>C)
c.3587T>C (p.Phe1196Ser)
c.3770T>C (p.Phe1257Ser)
c.*423T>C (n.*423T>C)
c.*431T>C (n.*431T>C)
c.*2145T>C (n.*2145T>C)
c.3764T>C (p.Phe1255Ser)
c.*3594T>C (n.*3594T>C)
c.3344T>C (p.Phe1115Ser)
c.518T>C (p.Phe173Ser)
c.1557T>C (n.1557T>C)
c.352T>C
c.1220T>C
c.3680T>C (p.Phe1227Ser)
c.3860T>C (p.Phe1287Ser)
c.3527T>C (p.Phe1176Ser)
7g.117642490T>GCA368974706CFTRc.3570T>G (p.Phe1190Leu)
c.*3484T>G (n.*3484T>G)
c.3587T>G (p.Phe1196Cys)
c.3770T>G (p.Phe1257Cys)
c.*423T>G (n.*423T>G)
c.*431T>G (n.*431T>G)
c.*2145T>G (n.*2145T>G)
c.3764T>G (p.Phe1255Cys)
c.*3594T>G (n.*3594T>G)
c.3344T>G (p.Phe1115Cys)
c.518T>G (p.Phe173Cys)
c.1557T>G (n.1557T>G)
c.352T>G
c.1220T>G
c.3680T>G (p.Phe1227Cys)
c.3860T>G (p.Phe1287Cys)
c.3527T>G (p.Phe1176Cys)
gnomAD v4
7g.117642491T>ACA368974714CFTRc.3571T>A (p.Phe1191Ile)
c.*3485T>A (n.*3485T>A)
c.3588T>A (p.Phe1196Leu)
c.3771T>A (p.Phe1257Leu)
c.*424T>A (n.*424T>A)
c.*432T>A (n.*432T>A)
c.*2146T>A (n.*2146T>A)
c.3765T>A (p.Phe1255Leu)
c.*3595T>A (n.*3595T>A)
c.3345T>A (p.Phe1115Leu)
c.519T>A (p.Phe173Leu)
c.1558T>A (n.1558T>A)
c.353T>A
c.1221T>A
c.3681T>A (p.Phe1227Leu)
c.3861T>A (p.Phe1287Leu)
c.3528T>A (p.Phe1176Leu)
7g.117642491T>CCA457228093CFTRc.3571T>C (p.Phe1191Leu)
c.*3485T>C (n.*3485T>C)
c.3588T>C (p.Phe1196=)
c.3771T>C (p.Phe1257=)
c.*424T>C (n.*424T>C)
c.*432T>C (n.*432T>C)
c.*2146T>C (n.*2146T>C)
c.3765T>C (p.Phe1255=)
c.*3595T>C (n.*3595T>C)
c.3345T>C (p.Phe1115=)
c.519T>C (p.Phe173=)
c.1558T>C (n.1558T>C)
c.353T>C
c.1221T>C
c.3681T>C (p.Phe1227=)
c.3861T>C (p.Phe1287=)
c.3528T>C (p.Phe1176=)
7g.117642491T>GCA327286CFTRc.3571T>G (p.Phe1191Val)
c.*3485T>G (n.*3485T>G)
c.3588T>G (p.Phe1196Leu)
c.3771T>G (p.Phe1257Leu)
c.*424T>G (n.*424T>G)
c.*432T>G (n.*432T>G)
c.*2146T>G (n.*2146T>G)
c.3765T>G (p.Phe1255Leu)
c.*3595T>G (n.*3595T>G)
c.3345T>G (p.Phe1115Leu)
c.519T>G (p.Phe173Leu)
c.1558T>G (n.1558T>G)
c.353T>G
c.1221T>G
c.3681T>G (p.Phe1227Leu)
c.3861T>G (p.Phe1287Leu)
c.3528T>G (p.Phe1176Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642491T=CA1737404760CFTRc.3571T= (p.Phe1191=)
c.*3485T= (n.*3485T=)
c.3588T= (p.Phe1196=)
c.3771T= (p.Phe1257=)
c.*424T= (n.*424T=)
c.*432T= (n.*432T=)
c.*2146T= (n.*2146T=)
c.3765T= (p.Phe1255=)
c.*3595T= (n.*3595T=)
c.3345T= (p.Phe1115=)
c.519T= (p.Phe173=)
c.1558T= (n.1558T=)
c.353T=
c.1221T=
c.3681T= (p.Phe1227=)
c.3861T= (p.Phe1287=)
c.3528T= (p.Phe1176=)
7g.117642492T>ACA368974722CFTRc.3572T>A (p.Phe1191Tyr)
c.*3486T>A (n.*3486T>A)
c.3589T>A (p.Leu1197Met)
c.3772T>A (p.Leu1258Met)
c.*425T>A (n.*425T>A)
c.*433T>A (n.*433T>A)
c.*2147T>A (n.*2147T>A)
c.3766T>A (p.Leu1256Met)
c.*3596T>A (n.*3596T>A)
c.3346T>A (p.Leu1116Met)
c.520T>A (p.Leu174Met)
c.1559T>A (n.1559T>A)
c.354T>A
c.1222T>A
c.3682T>A (p.Leu1228Met)
c.3862T>A (p.Leu1288Met)
c.3529T>A (p.Leu1177Met)
7g.117642492T>CCA164947580CFTRc.3572T>C (p.Phe1191Ser)
c.*3486T>C (n.*3486T>C)
c.3589T>C (p.Leu1197=)
c.3772T>C (p.Leu1258=)
c.*425T>C (n.*425T>C)
c.*433T>C (n.*433T>C)
c.*2147T>C (n.*2147T>C)
c.3766T>C (p.Leu1256=)
c.*3596T>C (n.*3596T>C)
c.3346T>C (p.Leu1116=)
c.520T>C (p.Leu174=)
c.1559T>C (n.1559T>C)
c.354T>C
c.1222T>C
c.3682T>C (p.Leu1228=)
c.3862T>C (p.Leu1288=)
c.3529T>C (p.Leu1177=)
ClinVar dbSNP gnomAD v4
7g.117642492T>GCA368974728CFTRc.3572T>G (p.Phe1191Cys)
c.*3486T>G (n.*3486T>G)
c.3589T>G (p.Leu1197Val)
c.3772T>G (p.Leu1258Val)
c.*425T>G (n.*425T>G)
c.*433T>G (n.*433T>G)
c.*2147T>G (n.*2147T>G)
c.3766T>G (p.Leu1256Val)
c.*3596T>G (n.*3596T>G)
c.3346T>G (p.Leu1116Val)
c.520T>G (p.Leu174Val)
c.1559T>G (n.1559T>G)
c.354T>G
c.1222T>G
c.3682T>G (p.Leu1228Val)
c.3862T>G (p.Leu1288Val)
c.3529T>G (p.Leu1177Val)
7g.117642492T=CA1737404761CFTRc.3572T= (p.Phe1191=)
c.*3486T= (n.*3486T=)
c.3589T= (p.Leu1197=)
c.3772T= (p.Leu1258=)
c.*425T= (n.*425T=)
c.*433T= (n.*433T=)
c.*2147T= (n.*2147T=)
c.3766T= (p.Leu1256=)
c.*3596T= (n.*3596T=)
c.3346T= (p.Leu1116=)
c.520T= (p.Leu174=)
c.1559T= (n.1559T=)
c.354T=
c.1222T=
c.3682T= (p.Leu1228=)
c.3862T= (p.Leu1288=)
c.3529T= (p.Leu1177=)

Number of alleles fetched