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.117642433_117642445delCA2499218698CFTRc.3518-5_3525del
c.*3432-5_*3439del
c.3535-5_3542del
c.3718-5_3725del
c.*371-5_*378del
c.*379-5_*386del
c.*2093-5_*2100del
c.3712-5_3719del
c.*3542-5_*3549del
c.3292-5_3299del
c.466-5_473del
c.1505-5_1512del
c.300-5_307del
c.1168-5_1175del
c.3628-5_3635del
c.3808-5_3815del
c.3475-5_3482del
ClinVar dbSNP
7g.117642443C>ACA4451540CFTRc.3523C>A (p.Pro1175Thr)
c.*3437C>A (n.*3437C>A)
c.3540C>A (p.Gly1180=)
c.3723C>A (p.Gly1241=)
c.*376C>A (n.*376C>A)
c.*384C>A (n.*384C>A)
c.*2098C>A (n.*2098C>A)
c.3717C>A (p.Gly1239=)
c.*3547C>A (n.*3547C>A)
c.3297C>A (p.Gly1099=)
c.471C>A (p.Gly157=)
c.1510C>A (n.1510C>A)
c.305C>A
c.1173C>A
c.3633C>A (p.Gly1211=)
c.3813C>A (p.Gly1271=)
c.3480C>A (p.Gly1160=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642443C=CA1737404727CFTRc.3523C= (p.Pro1175=)
c.*3437C= (n.*3437C=)
c.3540C= (p.Gly1180=)
c.3723C= (p.Gly1241=)
c.*376C= (n.*376C=)
c.*384C= (n.*384C=)
c.*2098C= (n.*2098C=)
c.3717C= (p.Gly1239=)
c.*3547C= (n.*3547C=)
c.3297C= (p.Gly1099=)
c.471C= (p.Gly157=)
c.1510C= (n.1510C=)
c.305C=
c.1173C=
c.3633C= (p.Gly1211=)
c.3813C= (p.Gly1271=)
c.3480C= (p.Gly1160=)
7g.117642443C>GCA457228056CFTRc.3523C>G (p.Pro1175Ala)
c.*3437C>G (n.*3437C>G)
c.3540C>G (p.Gly1180=)
c.3723C>G (p.Gly1241=)
c.*376C>G (n.*376C>G)
c.*384C>G (n.*384C>G)
c.*2098C>G (n.*2098C>G)
c.3717C>G (p.Gly1239=)
c.*3547C>G (n.*3547C>G)
c.3297C>G (p.Gly1099=)
c.471C>G (p.Gly157=)
c.1510C>G (n.1510C>G)
c.305C>G
c.1173C>G
c.3633C>G (p.Gly1211=)
c.3813C>G (p.Gly1271=)
c.3480C>G (p.Gly1160=)
7g.117642443C>TCA164947466CFTRc.3523C>T (p.Pro1175Ser)
c.*3437C>T (n.*3437C>T)
c.3540C>T (p.Gly1180=)
c.3723C>T (p.Gly1241=)
c.*376C>T (n.*376C>T)
c.*384C>T (n.*384C>T)
c.*2098C>T (n.*2098C>T)
c.3717C>T (p.Gly1239=)
c.*3547C>T (n.*3547C>T)
c.3297C>T (p.Gly1099=)
c.471C>T (p.Gly157=)
c.1510C>T (n.1510C>T)
c.305C>T
c.1173C>T
c.3633C>T (p.Gly1211=)
c.3813C>T (p.Gly1271=)
c.3480C>T (p.Gly1160=)
dbSNP
7g.117642444C>ACA368974425CFTRc.3524C>A (p.Pro1175His)
c.*3438C>A (n.*3438C>A)
c.3541C>A (p.Leu1181Ile)
c.3724C>A (p.Leu1242Ile)
c.*377C>A (n.*377C>A)
c.*385C>A (n.*385C>A)
c.*2099C>A (n.*2099C>A)
c.3718C>A (p.Leu1240Ile)
c.*3548C>A (n.*3548C>A)
c.3298C>A (p.Leu1100Ile)
c.472C>A (p.Leu158Ile)
c.1511C>A (n.1511C>A)
c.306C>A
c.1174C>A
c.3634C>A (p.Leu1212Ile)
c.3814C>A (p.Leu1272Ile)
c.3481C>A (p.Leu1161Ile)
7g.117642444C=CA1737404728CFTRc.3524C= (p.Pro1175=)
c.*3438C= (n.*3438C=)
c.3541C= (p.Leu1181=)
c.3724C= (p.Leu1242=)
c.*377C= (n.*377C=)
c.*385C= (n.*385C=)
c.*2099C= (n.*2099C=)
c.3718C= (p.Leu1240=)
c.*3548C= (n.*3548C=)
c.3298C= (p.Leu1100=)
c.472C= (p.Leu158=)
c.1511C= (n.1511C=)
c.306C=
c.1174C=
c.3634C= (p.Leu1212=)
c.3814C= (p.Leu1272=)
c.3481C= (p.Leu1161=)
7g.117642444C>GCA368974427CFTRc.3524C>G (p.Pro1175Arg)
c.*3438C>G (n.*3438C>G)
c.3541C>G (p.Leu1181Val)
c.3724C>G (p.Leu1242Val)
c.*377C>G (n.*377C>G)
c.*385C>G (n.*385C>G)
c.*2099C>G (n.*2099C>G)
c.3718C>G (p.Leu1240Val)
c.*3548C>G (n.*3548C>G)
c.3298C>G (p.Leu1100Val)
c.472C>G (p.Leu158Val)
c.1511C>G (n.1511C>G)
c.306C>G
c.1174C>G
c.3634C>G (p.Leu1212Val)
c.3814C>G (p.Leu1272Val)
c.3481C>G (p.Leu1161Val)
7g.117642444C>TCA368974429CFTRc.3524C>T (p.Pro1175Leu)
c.*3438C>T (n.*3438C>T)
c.3541C>T (p.Leu1181Phe)
c.3724C>T (p.Leu1242Phe)
c.*377C>T (n.*377C>T)
c.*385C>T (n.*385C>T)
c.*2099C>T (n.*2099C>T)
c.3718C>T (p.Leu1240Phe)
c.*3548C>T (n.*3548C>T)
c.3298C>T (p.Leu1100Phe)
c.472C>T (p.Leu158Phe)
c.1511C>T (n.1511C>T)
c.306C>T
c.1174C>T
c.3634C>T (p.Leu1212Phe)
c.3814C>T (p.Leu1272Phe)
c.3481C>T (p.Leu1161Phe)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117642445delCA2573141565CFTRc.3525del (p.Lys1178ArgfsTer?)
c.*3439del (n.*3439del)
c.3542del (p.Leu1181ProfsTer17)
c.3725del (p.Leu1242ProfsTer17)
c.*378del (n.*378del)
c.*386del (n.*386del)
c.*2100del (n.*2100del)
c.3719del (p.Leu1240ProfsTer17)
c.*3549del (n.*3549del)
c.3299del (p.Leu1100ProfsTer17)
c.473del (p.Leu158ProfsTer17)
c.1512del (n.1512del)
c.307del
c.1175del
c.3635del (p.Leu1212ProfsTer17)
c.3815del (p.Leu1272ProfsTer17)
c.3482del (p.Leu1161ProfsTer17)
ClinVar dbSNP
7g.117642445T>ACA368974433CFTRc.3525T>A (p.Pro1175=)
c.*3439T>A (n.*3439T>A)
c.3542T>A (p.Leu1181His)
c.3725T>A (p.Leu1242His)
c.*378T>A (n.*378T>A)
c.*386T>A (n.*386T>A)
c.*2100T>A (n.*2100T>A)
c.3719T>A (p.Leu1240His)
c.*3549T>A (n.*3549T>A)
c.3299T>A (p.Leu1100His)
c.473T>A (p.Leu158His)
c.1512T>A (n.1512T>A)
c.307T>A
c.1175T>A
c.3635T>A (p.Leu1212His)
c.3815T>A (p.Leu1272His)
c.3482T>A (p.Leu1161His)
ClinVar
7g.117642445T>CCA368974436CFTRc.3525T>C (p.Pro1175=)
c.*3439T>C (n.*3439T>C)
c.3542T>C (p.Leu1181Pro)
c.3725T>C (p.Leu1242Pro)
c.*378T>C (n.*378T>C)
c.*386T>C (n.*386T>C)
c.*2100T>C (n.*2100T>C)
c.3719T>C (p.Leu1240Pro)
c.*3549T>C (n.*3549T>C)
c.3299T>C (p.Leu1100Pro)
c.473T>C (p.Leu158Pro)
c.1512T>C (n.1512T>C)
c.307T>C
c.1175T>C
c.3635T>C (p.Leu1212Pro)
c.3815T>C (p.Leu1272Pro)
c.3482T>C (p.Leu1161Pro)
7g.117642445T>GCA368974432CFTRc.3525T>G (p.Pro1175=)
c.*3439T>G (n.*3439T>G)
c.3542T>G (p.Leu1181Arg)
c.3725T>G (p.Leu1242Arg)
c.*378T>G (n.*378T>G)
c.*386T>G (n.*386T>G)
c.*2100T>G (n.*2100T>G)
c.3719T>G (p.Leu1240Arg)
c.*3549T>G (n.*3549T>G)
c.3299T>G (p.Leu1100Arg)
c.473T>G (p.Leu158Arg)
c.1512T>G (n.1512T>G)
c.307T>G
c.1175T>G
c.3635T>G (p.Leu1212Arg)
c.3815T>G (p.Leu1272Arg)
c.3482T>G (p.Leu1161Arg)
7g.117642446C>ACA457228058CFTRc.3526C>A (p.Leu1176Ile)
c.*3440C>A (n.*3440C>A)
c.3543C>A (p.Leu1181=)
c.3726C>A (p.Leu1242=)
c.*379C>A (n.*379C>A)
c.*387C>A (n.*387C>A)
c.*2101C>A (n.*2101C>A)
c.3720C>A (p.Leu1240=)
c.*3550C>A (n.*3550C>A)
c.3300C>A (p.Leu1100=)
c.474C>A (p.Leu158=)
c.1513C>A (n.1513C>A)
c.308C>A
c.1176C>A
c.3636C>A (p.Leu1212=)
c.3816C>A (p.Leu1272=)
c.3483C>A (p.Leu1161=)
7g.117642446C=CA1737404729CFTRc.3526C= (p.Leu1176=)
c.*3440C= (n.*3440C=)
c.3543C= (p.Leu1181=)
c.3726C= (p.Leu1242=)
c.*379C= (n.*379C=)
c.*387C= (n.*387C=)
c.*2101C= (n.*2101C=)
c.3720C= (p.Leu1240=)
c.*3550C= (n.*3550C=)
c.3300C= (p.Leu1100=)
c.474C= (p.Leu158=)
c.1513C= (n.1513C=)
c.308C=
c.1176C=
c.3636C= (p.Leu1212=)
c.3816C= (p.Leu1272=)
c.3483C= (p.Leu1161=)
7g.117642446C>GCA457228057CFTRc.3526C>G (p.Leu1176Val)
c.*3440C>G (n.*3440C>G)
c.3543C>G (p.Leu1181=)
c.3726C>G (p.Leu1242=)
c.*379C>G (n.*379C>G)
c.*387C>G (n.*387C>G)
c.*2101C>G (n.*2101C>G)
c.3720C>G (p.Leu1240=)
c.*3550C>G (n.*3550C>G)
c.3300C>G (p.Leu1100=)
c.474C>G (p.Leu158=)
c.1513C>G (n.1513C>G)
c.308C>G
c.1176C>G
c.3636C>G (p.Leu1212=)
c.3816C>G (p.Leu1272=)
c.3483C>G (p.Leu1161=)
ClinVar dbSNP
7g.117642446C>TCA4451541CFTRc.3526C>T (p.Leu1176Phe)
c.*3440C>T (n.*3440C>T)
c.3543C>T (p.Leu1181=)
c.3726C>T (p.Leu1242=)
c.*379C>T (n.*379C>T)
c.*387C>T (n.*387C>T)
c.*2101C>T (n.*2101C>T)
c.3720C>T (p.Leu1240=)
c.*3550C>T (n.*3550C>T)
c.3300C>T (p.Leu1100=)
c.474C>T (p.Leu158=)
c.1513C>T (n.1513C>T)
c.308C>T
c.1176C>T
c.3636C>T (p.Leu1212=)
c.3816C>T (p.Leu1272=)
c.3483C>T (p.Leu1161=)
ClinVar dbSNP ExAC gnomAD v2
7g.117642447T>ACA368974440CFTRc.3527T>A (p.Leu1176His)
c.*3441T>A (n.*3441T>A)
c.3544T>A (p.Leu1182Met)
c.3727T>A (p.Leu1243Met)
c.*380T>A (n.*380T>A)
c.*388T>A (n.*388T>A)
c.*2102T>A (n.*2102T>A)
c.3721T>A (p.Leu1241Met)
c.*3551T>A (n.*3551T>A)
c.3301T>A (p.Leu1101Met)
c.475T>A (p.Leu159Met)
c.1514T>A (n.1514T>A)
c.309T>A
c.1177T>A
c.3637T>A (p.Leu1213Met)
c.3817T>A (p.Leu1273Met)
c.3484T>A (p.Leu1162Met)
7g.117642447T>CCA457228059CFTRc.3527T>C (p.Leu1176Pro)
c.*3441T>C (n.*3441T>C)
c.3544T>C (p.Leu1182=)
c.3727T>C (p.Leu1243=)
c.*380T>C (n.*380T>C)
c.*388T>C (n.*388T>C)
c.*2102T>C (n.*2102T>C)
c.3721T>C (p.Leu1241=)
c.*3551T>C (n.*3551T>C)
c.3301T>C (p.Leu1101=)
c.475T>C (p.Leu159=)
c.1514T>C (n.1514T>C)
c.309T>C
c.1177T>C
c.3637T>C (p.Leu1213=)
c.3817T>C (p.Leu1273=)
c.3484T>C (p.Leu1162=)
ClinVar dbSNP gnomAD v4
7g.117642447T>GCA368974442CFTRc.3527T>G (p.Leu1176Arg)
c.*3441T>G (n.*3441T>G)
c.3544T>G (p.Leu1182Val)
c.3727T>G (p.Leu1243Val)
c.*380T>G (n.*380T>G)
c.*388T>G (n.*388T>G)
c.*2102T>G (n.*2102T>G)
c.3721T>G (p.Leu1241Val)
c.*3551T>G (n.*3551T>G)
c.3301T>G (p.Leu1101Val)
c.475T>G (p.Leu159Val)
c.1514T>G (n.1514T>G)
c.309T>G
c.1177T>G
c.3637T>G (p.Leu1213Val)
c.3817T>G (p.Leu1273Val)
c.3484T>G (p.Leu1162Val)
dbSNP
7g.117642447T=CA1737404730CFTRc.3527T= (p.Leu1176=)
c.*3441T= (n.*3441T=)
c.3544T= (p.Leu1182=)
c.3727T= (p.Leu1243=)
c.*380T= (n.*380T=)
c.*388T= (n.*388T=)
c.*2102T= (n.*2102T=)
c.3721T= (p.Leu1241=)
c.*3551T= (n.*3551T=)
c.3301T= (p.Leu1101=)
c.475T= (p.Leu159=)
c.1514T= (n.1514T=)
c.309T=
c.1177T=
c.3637T= (p.Leu1213=)
c.3817T= (p.Leu1273=)
c.3484T= (p.Leu1162=)
7g.117642448T>ACA368974444CFTRc.3528T>A (p.Leu1176=)
c.*3442T>A (n.*3442T>A)
c.3545T>A (p.Leu1182Ter)
c.3728T>A (p.Leu1243Ter)
c.*381T>A (n.*381T>A)
c.*389T>A (n.*389T>A)
c.*2103T>A (n.*2103T>A)
c.3722T>A (p.Leu1241Ter)
c.*3552T>A (n.*3552T>A)
c.3302T>A (p.Leu1101Ter)
c.476T>A (p.Leu159Ter)
c.1515T>A (n.1515T>A)
c.310T>A
c.1178T>A
c.3638T>A (p.Leu1213Ter)
c.3818T>A (p.Leu1273Ter)
c.3485T>A (p.Leu1162Ter)
ClinVar dbSNP
7g.117642448T>CCA368974446CFTRc.3528T>C (p.Leu1176=)
c.*3442T>C (n.*3442T>C)
c.3545T>C (p.Leu1182Ser)
c.3728T>C (p.Leu1243Ser)
c.*381T>C (n.*381T>C)
c.*389T>C (n.*389T>C)
c.*2103T>C (n.*2103T>C)
c.3722T>C (p.Leu1241Ser)
c.*3552T>C (n.*3552T>C)
c.3302T>C (p.Leu1101Ser)
c.476T>C (p.Leu159Ser)
c.1515T>C (n.1515T>C)
c.310T>C
c.1178T>C
c.3638T>C (p.Leu1213Ser)
c.3818T>C (p.Leu1273Ser)
c.3485T>C (p.Leu1162Ser)
7g.117642448T>GCA368974448CFTRc.3528T>G (p.Leu1176=)
c.*3442T>G (n.*3442T>G)
c.3545T>G (p.Leu1182Trp)
c.3728T>G (p.Leu1243Trp)
c.*381T>G (n.*381T>G)
c.*389T>G (n.*389T>G)
c.*2103T>G (n.*2103T>G)
c.3722T>G (p.Leu1241Trp)
c.*3552T>G (n.*3552T>G)
c.3302T>G (p.Leu1101Trp)
c.476T>G (p.Leu159Trp)
c.1515T>G (n.1515T>G)
c.310T>G
c.1178T>G
c.3638T>G (p.Leu1213Trp)
c.3818T>G (p.Leu1273Trp)
c.3485T>G (p.Leu1162Trp)
ClinVar gnomAD v4
7g.117642448T=CA1737404731CFTRc.3528T= (p.Leu1176=)
c.*3442T= (n.*3442T=)
c.3545T= (p.Leu1182=)
c.3728T= (p.Leu1243=)
c.*381T= (n.*381T=)
c.*389T= (n.*389T=)
c.*2103T= (n.*2103T=)
c.3722T= (p.Leu1241=)
c.*3552T= (n.*3552T=)
c.3302T= (p.Leu1101=)
c.476T= (p.Leu159=)
c.1515T= (n.1515T=)
c.310T=
c.1178T=
c.3638T= (p.Leu1213=)
c.3818T= (p.Leu1273=)
c.3485T= (p.Leu1162=)
7g.117642448_117642463dupCA2695205217CFTRc.3528_3543dup (p.Arg1182TrpfsTer16)
c.*3442_*3457dup (n.*3442_*3457dup)
c.3545_3560dup (p.Ser1190AsnfsTer19)
c.3728_3743dup (p.Ser1251AsnfsTer19)
c.*381_*396dup (n.*381_*396dup)
c.*389_*404dup (n.*389_*404dup)
c.*2103_*2118dup (n.*2103_*2118dup)
c.3722_3737dup (p.Ser1249AsnfsTer19)
c.*3552_*3567dup (n.*3552_*3567dup)
c.3302_3317dup (p.Ser1109AsnfsTer19)
c.476_491dup (p.Ser167AsnfsTer19)
c.1515_1530dup (n.1515_1530dup)
c.310_325dup
c.1178_1193dup
c.3638_3653dup (p.Ser1221AsnfsTer19)
c.3818_3833dup (p.Ser1281AsnfsTer19)
c.3485_3500dup (p.Ser1170AsnfsTer19)
7g.117642449G>ACA457228060CFTRc.3529G>A (p.Gly1177Arg)
c.*3443G>A (n.*3443G>A)
c.3546G>A (p.Leu1182=)
c.3729G>A (p.Leu1243=)
c.*382G>A (n.*382G>A)
c.*390G>A (n.*390G>A)
c.*2104G>A (n.*2104G>A)
c.3723G>A (p.Leu1241=)
c.*3553G>A (n.*3553G>A)
c.3303G>A (p.Leu1101=)
c.477G>A (p.Leu159=)
c.1516G>A (n.1516G>A)
c.311G>A
c.1179G>A
c.3639G>A (p.Leu1213=)
c.3819G>A (p.Leu1273=)
c.3486G>A (p.Leu1162=)
7g.117642449G>CCA368974449CFTRc.3529G>C (p.Gly1177Arg)
c.*3443G>C (n.*3443G>C)
c.3546G>C (p.Leu1182Phe)
c.3729G>C (p.Leu1243Phe)
c.*382G>C (n.*382G>C)
c.*390G>C (n.*390G>C)
c.*2104G>C (n.*2104G>C)
c.3723G>C (p.Leu1241Phe)
c.*3553G>C (n.*3553G>C)
c.3303G>C (p.Leu1101Phe)
c.477G>C (p.Leu159Phe)
c.1516G>C (n.1516G>C)
c.311G>C
c.1179G>C
c.3639G>C (p.Leu1213Phe)
c.3819G>C (p.Leu1273Phe)
c.3486G>C (p.Leu1162Phe)
7g.117642449G>TCA368974451CFTRc.3529G>T (p.Gly1177Trp)
c.*3443G>T (n.*3443G>T)
c.3546G>T (p.Leu1182Phe)
c.3729G>T (p.Leu1243Phe)
c.*382G>T (n.*382G>T)
c.*390G>T (n.*390G>T)
c.*2104G>T (n.*2104G>T)
c.3723G>T (p.Leu1241Phe)
c.*3553G>T (n.*3553G>T)
c.3303G>T (p.Leu1101Phe)
c.477G>T (p.Leu159Phe)
c.1516G>T (n.1516G>T)
c.311G>T
c.1179G>T
c.3639G>T (p.Leu1213Phe)
c.3819G>T (p.Leu1273Phe)
c.3486G>T (p.Leu1162Phe)
7g.117642450G>ACA327264CFTRc.3530G>A (p.Gly1177Glu)
c.*3444G>A (n.*3444G>A)
c.3547G>A (p.Gly1183Arg)
c.3730G>A (p.Gly1244Arg)
c.*383G>A (n.*383G>A)
c.*391G>A (n.*391G>A)
c.*2105G>A (n.*2105G>A)
c.3724G>A (p.Gly1242Arg)
c.*3554G>A (n.*3554G>A)
c.3304G>A (p.Gly1102Arg)
c.478G>A (p.Gly160Arg)
c.1517G>A (n.1517G>A)
c.312G>A
c.1180G>A
c.3640G>A (p.Gly1214Arg)
c.3820G>A (p.Gly1274Arg)
c.3487G>A (p.Gly1163Arg)
ClinVar dbSNP
7g.117642450G>CCA368974453CFTRc.3530G>C (p.Gly1177Ala)
c.*3444G>C (n.*3444G>C)
c.3547G>C (p.Gly1183Arg)
c.3730G>C (p.Gly1244Arg)
c.*383G>C (n.*383G>C)
c.*391G>C (n.*391G>C)
c.*2105G>C (n.*2105G>C)
c.3724G>C (p.Gly1242Arg)
c.*3554G>C (n.*3554G>C)
c.3304G>C (p.Gly1102Arg)
c.478G>C (p.Gly160Arg)
c.1517G>C (n.1517G>C)
c.312G>C
c.1180G>C
c.3640G>C (p.Gly1214Arg)
c.3820G>C (p.Gly1274Arg)
c.3487G>C (p.Gly1163Arg)
7g.117642450G=CA1737404732CFTRc.3530G= (p.Gly1177=)
c.*3444G= (n.*3444G=)
c.3547G= (p.Gly1183=)
c.3730G= (p.Gly1244=)
c.*383G= (n.*383G=)
c.*391G= (n.*391G=)
c.*2105G= (n.*2105G=)
c.3724G= (p.Gly1242=)
c.*3554G= (n.*3554G=)
c.3304G= (p.Gly1102=)
c.478G= (p.Gly160=)
c.1517G= (n.1517G=)
c.312G=
c.1180G=
c.3640G= (p.Gly1214=)
c.3820G= (p.Gly1274=)
c.3487G= (p.Gly1163=)
7g.117642450G>TCA368974454CFTRc.3530G>T (p.Gly1177Val)
c.*3444G>T (n.*3444G>T)
c.3547G>T (p.Gly1183Ter)
c.3730G>T (p.Gly1244Ter)
c.*383G>T (n.*383G>T)
c.*391G>T (n.*391G>T)
c.*2105G>T (n.*2105G>T)
c.3724G>T (p.Gly1242Ter)
c.*3554G>T (n.*3554G>T)
c.3304G>T (p.Gly1102Ter)
c.478G>T (p.Gly160Ter)
c.1517G>T (n.1517G>T)
c.312G>T
c.1180G>T
c.3640G>T (p.Gly1214Ter)
c.3820G>T (p.Gly1274Ter)
c.3487G>T (p.Gly1163Ter)
7g.117642451G>ACA328120CFTRc.3531G>A (p.Gly1177=)
c.*3445G>A (n.*3445G>A)
c.3548G>A (p.Gly1183Glu)
c.3731G>A (p.Gly1244Glu)
c.*384G>A (n.*384G>A)
c.*392G>A (n.*392G>A)
c.*2106G>A (n.*2106G>A)
c.3725G>A (p.Gly1242Glu)
c.*3555G>A (n.*3555G>A)
c.3305G>A (p.Gly1102Glu)
c.479G>A (p.Gly160Glu)
c.1518G>A (n.1518G>A)
c.313G>A
c.1181G>A
c.3641G>A (p.Gly1214Glu)
c.3821G>A (p.Gly1274Glu)
c.3488G>A (p.Gly1163Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117642451G>CCA368974455CFTRc.3531G>C (p.Gly1177=)
c.*3445G>C (n.*3445G>C)
c.3548G>C (p.Gly1183Ala)
c.3731G>C (p.Gly1244Ala)
c.*384G>C (n.*384G>C)
c.*392G>C (n.*392G>C)
c.*2106G>C (n.*2106G>C)
c.3725G>C (p.Gly1242Ala)
c.*3555G>C (n.*3555G>C)
c.3305G>C (p.Gly1102Ala)
c.479G>C (p.Gly160Ala)
c.1518G>C (n.1518G>C)
c.313G>C
c.1181G>C
c.3641G>C (p.Gly1214Ala)
c.3821G>C (p.Gly1274Ala)
c.3488G>C (p.Gly1163Ala)
7g.117642451G=CA1737404733CFTRc.3531G= (p.Gly1177=)
c.*3445G= (n.*3445G=)
c.3548G= (p.Gly1183=)
c.3731G= (p.Gly1244=)
c.*384G= (n.*384G=)
c.*392G= (n.*392G=)
c.*2106G= (n.*2106G=)
c.3725G= (p.Gly1242=)
c.*3555G= (n.*3555G=)
c.3305G= (p.Gly1102=)
c.479G= (p.Gly160=)
c.1518G= (n.1518G=)
c.313G=
c.1181G=
c.3641G= (p.Gly1214=)
c.3821G= (p.Gly1274=)
c.3488G= (p.Gly1163=)
7g.117642451G>TCA327266CFTRc.3531G>T (p.Gly1177=)
c.*3445G>T (n.*3445G>T)
c.3548G>T (p.Gly1183Val)
c.3731G>T (p.Gly1244Val)
c.*384G>T (n.*384G>T)
c.*392G>T (n.*392G>T)
c.*2106G>T (n.*2106G>T)
c.3725G>T (p.Gly1242Val)
c.*3555G>T (n.*3555G>T)
c.3305G>T (p.Gly1102Val)
c.479G>T (p.Gly160Val)
c.1518G>T (n.1518G>T)
c.313G>T
c.1181G>T
c.3641G>T (p.Gly1214Val)
c.3821G>T (p.Gly1274Val)
c.3488G>T (p.Gly1163Val)
ClinVar dbSNP
7g.117642452A>CCA457228061CFTRc.3532A>C (p.Lys1178Gln)
c.*3446A>C (n.*3446A>C)
c.3549A>C (p.Gly1183=)
c.3732A>C (p.Gly1244=)
c.*385A>C (n.*385A>C)
c.*393A>C (n.*393A>C)
c.*2107A>C (n.*2107A>C)
c.3726A>C (p.Gly1242=)
c.*3556A>C (n.*3556A>C)
c.3306A>C (p.Gly1102=)
c.480A>C (p.Gly160=)
c.1519A>C (n.1519A>C)
c.314A>C
c.1182A>C
c.3642A>C (p.Gly1214=)
c.3822A>C (p.Gly1274=)
c.3489A>C (p.Gly1163=)
gnomAD v4
7g.117642452A>GCA457228062CFTRc.3532A>G (p.Lys1178Glu)
c.*3446A>G (n.*3446A>G)
c.3549A>G (p.Gly1183=)
c.3732A>G (p.Gly1244=)
c.*385A>G (n.*385A>G)
c.*393A>G (n.*393A>G)
c.*2107A>G (n.*2107A>G)
c.3726A>G (p.Gly1242=)
c.*3556A>G (n.*3556A>G)
c.3306A>G (p.Gly1102=)
c.480A>G (p.Gly160=)
c.1519A>G (n.1519A>G)
c.314A>G
c.1182A>G
c.3642A>G (p.Gly1214=)
c.3822A>G (p.Gly1274=)
c.3489A>G (p.Gly1163=)
7g.117642452A>TCA457228063CFTRc.3532A>T (p.Lys1178Ter)
c.*3446A>T (n.*3446A>T)
c.3549A>T (p.Gly1183=)
c.3732A>T (p.Gly1244=)
c.*385A>T (n.*385A>T)
c.*393A>T (n.*393A>T)
c.*2107A>T (n.*2107A>T)
c.3726A>T (p.Gly1242=)
c.*3556A>T (n.*3556A>T)
c.3306A>T (p.Gly1102=)
c.480A>T (p.Gly160=)
c.1519A>T (n.1519A>T)
c.314A>T
c.1182A>T
c.3642A>T (p.Gly1214=)
c.3822A>T (p.Gly1274=)
c.3489A>T (p.Gly1163=)
7g.117642453A>CCA457228064CFTRc.3533A>C (p.Lys1178Thr)
c.*3447A>C (n.*3447A>C)
c.3550A>C (p.Arg1184=)
c.3733A>C (p.Arg1245=)
c.*386A>C (n.*386A>C)
c.*394A>C (n.*394A>C)
c.*2108A>C (n.*2108A>C)
c.3727A>C (p.Arg1243=)
c.*3557A>C (n.*3557A>C)
c.3307A>C (p.Arg1103=)
c.481A>C (p.Arg161=)
c.1520A>C (n.1520A>C)
c.315A>C
c.1183A>C
c.3643A>C (p.Arg1215=)
c.3823A>C (p.Arg1275=)
c.3490A>C (p.Arg1164=)
7g.117642453A>GCA368974462CFTRc.3533A>G (p.Lys1178Arg)
c.*3447A>G (n.*3447A>G)
c.3550A>G (p.Arg1184Gly)
c.3733A>G (p.Arg1245Gly)
c.*386A>G (n.*386A>G)
c.*394A>G (n.*394A>G)
c.*2108A>G (n.*2108A>G)
c.3727A>G (p.Arg1243Gly)
c.*3557A>G (n.*3557A>G)
c.3307A>G (p.Arg1103Gly)
c.481A>G (p.Arg161Gly)
c.1520A>G (n.1520A>G)
c.315A>G
c.1183A>G
c.3643A>G (p.Arg1215Gly)
c.3823A>G (p.Arg1275Gly)
c.3490A>G (p.Arg1164Gly)
7g.117642453A>TCA368974460CFTRc.3533A>T (p.Lys1178Met)
c.*3447A>T (n.*3447A>T)
c.3550A>T (p.Arg1184Ter)
c.3733A>T (p.Arg1245Ter)
c.*386A>T (n.*386A>T)
c.*394A>T (n.*394A>T)
c.*2108A>T (n.*2108A>T)
c.3727A>T (p.Arg1243Ter)
c.*3557A>T (n.*3557A>T)
c.3307A>T (p.Arg1103Ter)
c.481A>T (p.Arg161Ter)
c.1520A>T (n.1520A>T)
c.315A>T
c.1183A>T
c.3643A>T (p.Arg1215Ter)
c.3823A>T (p.Arg1275Ter)
c.3490A>T (p.Arg1164Ter)
7g.117642454G>ACA368974465CFTRc.3534G>A (p.Lys1178=)
c.*3448G>A (n.*3448G>A)
c.3551G>A (p.Arg1184Lys)
c.3734G>A (p.Arg1245Lys)
c.*387G>A (n.*387G>A)
c.*395G>A (n.*395G>A)
c.*2109G>A (n.*2109G>A)
c.3728G>A (p.Arg1243Lys)
c.*3558G>A (n.*3558G>A)
c.3308G>A (p.Arg1103Lys)
c.482G>A (p.Arg161Lys)
c.1521G>A (n.1521G>A)
c.316G>A
c.1184G>A
c.3644G>A (p.Arg1215Lys)
c.3824G>A (p.Arg1275Lys)
c.3491G>A (p.Arg1164Lys)
7g.117642454G>CCA368974466CFTRc.3534G>C (p.Lys1178Asn)
c.*3448G>C (n.*3448G>C)
c.3551G>C (p.Arg1184Thr)
c.3734G>C (p.Arg1245Thr)
c.*387G>C (n.*387G>C)
c.*395G>C (n.*395G>C)
c.*2109G>C (n.*2109G>C)
c.3728G>C (p.Arg1243Thr)
c.*3558G>C (n.*3558G>C)
c.3308G>C (p.Arg1103Thr)
c.482G>C (p.Arg161Thr)
c.1521G>C (n.1521G>C)
c.316G>C
c.1184G>C
c.3644G>C (p.Arg1215Thr)
c.3824G>C (p.Arg1275Thr)
c.3491G>C (p.Arg1164Thr)
7g.117642454G>TCA368974469CFTRc.3534G>T (p.Lys1178Asn)
c.*3448G>T (n.*3448G>T)
c.3551G>T (p.Arg1184Ile)
c.3734G>T (p.Arg1245Ile)
c.*387G>T (n.*387G>T)
c.*395G>T (n.*395G>T)
c.*2109G>T (n.*2109G>T)
c.3728G>T (p.Arg1243Ile)
c.*3558G>T (n.*3558G>T)
c.3308G>T (p.Arg1103Ile)
c.482G>T (p.Arg161Ile)
c.1521G>T (n.1521G>T)
c.316G>T
c.1184G>T
c.3644G>T (p.Arg1215Ile)
c.3824G>T (p.Arg1275Ile)
c.3491G>T (p.Arg1164Ile)
7g.117642455A=CA1737404734CFTRc.3535A= (p.Asn1179=)
c.*3449A= (n.*3449A=)
c.3552A= (p.Arg1184=)
c.3735A= (p.Arg1245=)
c.*388A= (n.*388A=)
c.*396A= (n.*396A=)
c.*2110A= (n.*2110A=)
c.3729A= (p.Arg1243=)
c.*3559A= (n.*3559A=)
c.3309A= (p.Arg1103=)
c.483A= (p.Arg161=)
c.1522A= (n.1522A=)
c.317A=
c.1185A=
c.3645A= (p.Arg1215=)
c.3825A= (p.Arg1275=)
c.3492A= (p.Arg1164=)
7g.117642455A>CCA368974472CFTRc.3535A>C (p.Asn1179His)
c.*3449A>C (n.*3449A>C)
c.3552A>C (p.Arg1184Ser)
c.3735A>C (p.Arg1245Ser)
c.*388A>C (n.*388A>C)
c.*396A>C (n.*396A>C)
c.*2110A>C (n.*2110A>C)
c.3729A>C (p.Arg1243Ser)
c.*3559A>C (n.*3559A>C)
c.3309A>C (p.Arg1103Ser)
c.483A>C (p.Arg161Ser)
c.1522A>C (n.1522A>C)
c.317A>C
c.1185A>C
c.3645A>C (p.Arg1215Ser)
c.3825A>C (p.Arg1275Ser)
c.3492A>C (p.Arg1164Ser)

Number of alleles fetched