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.117642570_117642575delinsAAAGCCCA1737404805CFTRc.*59_*64delinsAAAGCC (n.*59_*64delinsAAAGCC)
c.*3564_*3569delinsAAAGCC (n.*3564_*3569delinsAAAGCC)
c.3667_3672delinsAAAGCC (p.Lys1223=)
c.3850_3855delinsAAAGCC (p.Lys1284=)
c.*503_*508delinsAAAGCC (n.*503_*508delinsAAAGCC)
c.*511_*516delinsAAAGCC (n.*511_*516delinsAAAGCC)
c.*2225_*2230delinsAAAGCC (n.*2225_*2230delinsAAAGCC)
c.3844_3849delinsAAAGCC (p.Lys1282=)
c.*3674_*3679delinsAAAGCC (n.*3674_*3679delinsAAAGCC)
c.3424_3429delinsAAAGCC (p.Lys1142=)
c.598_603delinsAAAGCC (p.Lys200=)
c.1637_1642delinsAAAGCC (n.1637_1642delinsAAAGCC)
c.432_437delinsAAAGCC
c.1300_1305delinsAAAGCC
c.3760_3765delinsAAAGCC (p.Lys1254=)
c.3940_3945delinsAAAGCC (p.Lys1314=)
c.3607_3612delinsAAAGCC (p.Lys1203=)
7g.117642571_117642575delCA577224058CFTRc.*60_*64del (n.*60_*64del)
c.*3565_*3569del (n.*3565_*3569del)
c.3668_3672del (p.Lys1223IlefsTer16)
c.3851_3855del (p.Lys1284IlefsTer?)
c.*504_*508del (n.*504_*508del)
c.3851_3855del (p.Lys1284IlefsTer16)
c.*512_*516del (n.*512_*516del)
c.*2226_*2230del (n.*2226_*2230del)
c.3845_3849del (p.Lys1282IlefsTer16)
c.*3675_*3679del (n.*3675_*3679del)
c.3425_3429del (p.Lys1142IlefsTer16)
c.599_603del (p.Lys200IlefsTer?)
c.1638_1642del (n.1638_1642del)
c.433_437del
c.1301_1305del
c.3761_3765del (p.Lys1254IlefsTer16)
c.3941_3945del (p.Lys1314IlefsTer16)
c.3608_3612del (p.Lys1203IlefsTer16)
 dbSNP gnomAD v2
7g.117642575delCA327311CFTRc.*64del (n.*64del)
c.*3569del (n.*3569del)
c.3672del (p.Phe1225LeufsTer3)
c.3855del (p.Phe1286LeufsTer3)
c.*508del (n.*508del)
c.*516del (n.*516del)
c.*2230del (n.*2230del)
c.3849del (p.Phe1284LeufsTer3)
c.*3679del (n.*3679del)
c.3429del (p.Phe1144LeufsTer3)
c.603del (p.Phe202LeufsTer3)
c.1642del (n.1642del)
c.437del
c.1305del
c.3765del (p.Phe1256LeufsTer3)
c.3945del (p.Phe1316LeufsTer3)
c.3612del (p.Phe1205LeufsTer3)
 ClinVar dbSNP
7g.117642575C>ACA457228464CFTRc.*64C>A (n.*64C>A)
c.*3569C>A (n.*3569C>A)
c.3672C>A (p.Ala1224=)
c.3855C>A (p.Ala1285=)
c.*508C>A (n.*508C>A)
c.*516C>A (n.*516C>A)
c.*2230C>A (n.*2230C>A)
c.3849C>A (p.Ala1283=)
c.*3679C>A (n.*3679C>A)
c.3429C>A (p.Ala1143=)
c.603C>A (p.Ala201=)
c.1642C>A (n.1642C>A)
c.437C>A
c.1305C>A
c.3765C>A (p.Ala1255=)
c.3945C>A (p.Ala1315=)
c.3612C>A (p.Ala1204=)
7g.117642575C=CA1737404810CFTRc.*64C= (n.*64C=)
c.*3569C= (n.*3569C=)
c.3672C= (p.Ala1224=)
c.3855C= (p.Ala1285=)
c.*508C= (n.*508C=)
c.*516C= (n.*516C=)
c.*2230C= (n.*2230C=)
c.3849C= (p.Ala1283=)
c.*3679C= (n.*3679C=)
c.3429C= (p.Ala1143=)
c.603C= (p.Ala201=)
c.1642C= (n.1642C=)
c.437C=
c.1305C=
c.3765C= (p.Ala1255=)
c.3945C= (p.Ala1315=)
c.3612C= (p.Ala1204=)
7g.117642575C>GCA4451558CFTRc.*64C>G (n.*64C>G)
c.*3569C>G (n.*3569C>G)
c.3672C>G (p.Ala1224=)
c.3855C>G (p.Ala1285=)
c.*508C>G (n.*508C>G)
c.*516C>G (n.*516C>G)
c.*2230C>G (n.*2230C>G)
c.3849C>G (p.Ala1283=)
c.*3679C>G (n.*3679C>G)
c.3429C>G (p.Ala1143=)
c.603C>G (p.Ala201=)
c.1642C>G (n.1642C>G)
c.437C>G
c.1305C>G
c.3765C>G (p.Ala1255=)
c.3945C>G (p.Ala1315=)
c.3612C>G (p.Ala1204=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117642575C>TCA457228467CFTRc.*64C>T (n.*64C>T)
c.*3569C>T (n.*3569C>T)
c.3672C>T (p.Ala1224=)
c.3855C>T (p.Ala1285=)
c.*508C>T (n.*508C>T)
c.*516C>T (n.*516C>T)
c.*2230C>T (n.*2230C>T)
c.3849C>T (p.Ala1283=)
c.*3679C>T (n.*3679C>T)
c.3429C>T (p.Ala1143=)
c.603C>T (p.Ala201=)
c.1642C>T (n.1642C>T)
c.437C>T
c.1305C>T
c.3765C>T (p.Ala1255=)
c.3945C>T (p.Ala1315=)
c.3612C>T (p.Ala1204=)
 dbSNP gnomAD v2 gnomAD v4
7g.117642576T>ACA368975540CFTRc.*65T>A (n.*65T>A)
c.*3570T>A (n.*3570T>A)
c.3673T>A (p.Phe1225Ile)
c.3856T>A (p.Phe1286Ile)
c.*509T>A (n.*509T>A)
c.*517T>A (n.*517T>A)
c.*2231T>A (n.*2231T>A)
c.3850T>A (p.Phe1284Ile)
c.*3680T>A (n.*3680T>A)
c.3430T>A (p.Phe1144Ile)
c.604T>A (p.Phe202Ile)
c.1643T>A (n.1643T>A)
c.438T>A
c.1306T>A
c.3766T>A (p.Phe1256Ile)
c.3946T>A (p.Phe1316Ile)
c.3613T>A (p.Phe1205Ile)
7g.117642576T>CCA368975544CFTRc.*65T>C (n.*65T>C)
c.*3570T>C (n.*3570T>C)
c.3673T>C (p.Phe1225Leu)
c.3856T>C (p.Phe1286Leu)
c.*509T>C (n.*509T>C)
c.*517T>C (n.*517T>C)
c.*2231T>C (n.*2231T>C)
c.3850T>C (p.Phe1284Leu)
c.*3680T>C (n.*3680T>C)
c.3430T>C (p.Phe1144Leu)
c.604T>C (p.Phe202Leu)
c.1643T>C (n.1643T>C)
c.438T>C
c.1306T>C
c.3766T>C (p.Phe1256Leu)
c.3946T>C (p.Phe1316Leu)
c.3613T>C (p.Phe1205Leu)
 COSMIC
7g.117642576T>GCA368975546CFTRc.*65T>G (n.*65T>G)
c.*3570T>G (n.*3570T>G)
c.3673T>G (p.Phe1225Val)
c.3856T>G (p.Phe1286Val)
c.*509T>G (n.*509T>G)
c.*517T>G (n.*517T>G)
c.*2231T>G (n.*2231T>G)
c.3850T>G (p.Phe1284Val)
c.*3680T>G (n.*3680T>G)
c.3430T>G (p.Phe1144Val)
c.604T>G (p.Phe202Val)
c.1643T>G (n.1643T>G)
c.438T>G
c.1306T>G
c.3766T>G (p.Phe1256Val)
c.3946T>G (p.Phe1316Val)
c.3613T>G (p.Phe1205Val)
7g.117642577T>ACA368975555CFTRc.*66T>A (n.*66T>A)
c.*3571T>A (n.*3571T>A)
c.3674T>A (p.Phe1225Tyr)
c.3857T>A (p.Phe1286Tyr)
c.*510T>A (n.*510T>A)
c.*518T>A (n.*518T>A)
c.*2232T>A (n.*2232T>A)
c.3851T>A (p.Phe1284Tyr)
c.*3681T>A (n.*3681T>A)
c.3431T>A (p.Phe1144Tyr)
c.605T>A (p.Phe202Tyr)
c.1644T>A (n.1644T>A)
c.439T>A
c.1307T>A
c.3767T>A (p.Phe1256Tyr)
c.3947T>A (p.Phe1316Tyr)
c.3614T>A (p.Phe1205Tyr)
7g.117642577T>CCA325574CFTRc.*66T>C (n.*66T>C)
c.*3571T>C (n.*3571T>C)
c.3674T>C (p.Phe1225Ser)
c.3857T>C (p.Phe1286Ser)
c.*510T>C (n.*510T>C)
c.*518T>C (n.*518T>C)
c.*2232T>C (n.*2232T>C)
c.3851T>C (p.Phe1284Ser)
c.*3681T>C (n.*3681T>C)
c.3431T>C (p.Phe1144Ser)
c.605T>C (p.Phe202Ser)
c.1644T>C (n.1644T>C)
c.439T>C
c.1307T>C
c.3767T>C (p.Phe1256Ser)
c.3947T>C (p.Phe1316Ser)
c.3614T>C (p.Phe1205Ser)
 ClinVar dbSNP
7g.117642577T>GCA368975550CFTRc.*66T>G (n.*66T>G)
c.*3571T>G (n.*3571T>G)
c.3674T>G (p.Phe1225Cys)
c.3857T>G (p.Phe1286Cys)
c.*510T>G (n.*510T>G)
c.*518T>G (n.*518T>G)
c.*2232T>G (n.*2232T>G)
c.3851T>G (p.Phe1284Cys)
c.*3681T>G (n.*3681T>G)
c.3431T>G (p.Phe1144Cys)
c.605T>G (p.Phe202Cys)
c.1644T>G (n.1644T>G)
c.439T>G
c.1307T>G
c.3767T>G (p.Phe1256Cys)
c.3947T>G (p.Phe1316Cys)
c.3614T>G (p.Phe1205Cys)
 ClinVar dbSNP gnomAD v4
7g.117642577T=CA1737404811CFTRc.*66T= (n.*66T=)
c.*3571T= (n.*3571T=)
c.3674T= (p.Phe1225=)
c.3857T= (p.Phe1286=)
c.*510T= (n.*510T=)
c.*518T= (n.*518T=)
c.*2232T= (n.*2232T=)
c.3851T= (p.Phe1284=)
c.*3681T= (n.*3681T=)
c.3431T= (p.Phe1144=)
c.605T= (p.Phe202=)
c.1644T= (n.1644T=)
c.439T=
c.1307T=
c.3767T= (p.Phe1256=)
c.3947T= (p.Phe1316=)
c.3614T= (p.Phe1205=)
7g.117642578T>ACA368975560CFTRc.*67T>A (n.*67T>A)
c.*3572T>A (n.*3572T>A)
c.3675T>A (p.Phe1225Leu)
c.3858T>A (p.Phe1286Leu)
c.*511T>A (n.*511T>A)
c.*519T>A (n.*519T>A)
c.*2233T>A (n.*2233T>A)
c.3852T>A (p.Phe1284Leu)
c.*3682T>A (n.*3682T>A)
c.3432T>A (p.Phe1144Leu)
c.606T>A (p.Phe202Leu)
c.1645T>A (n.1645T>A)
c.440T>A
c.1308T>A
c.3768T>A (p.Phe1256Leu)
c.3948T>A (p.Phe1316Leu)
c.3615T>A (p.Phe1205Leu)
7g.117642578T>CCA457228479CFTRc.*67T>C (n.*67T>C)
c.*3572T>C (n.*3572T>C)
c.3675T>C (p.Phe1225=)
c.3858T>C (p.Phe1286=)
c.*511T>C (n.*511T>C)
c.*519T>C (n.*519T>C)
c.*2233T>C (n.*2233T>C)
c.3852T>C (p.Phe1284=)
c.*3682T>C (n.*3682T>C)
c.3432T>C (p.Phe1144=)
c.606T>C (p.Phe202=)
c.1645T>C (n.1645T>C)
c.440T>C
c.1308T>C
c.3768T>C (p.Phe1256=)
c.3948T>C (p.Phe1316=)
c.3615T>C (p.Phe1205=)
7g.117642578T>GCA368975563CFTRc.*67T>G (n.*67T>G)
c.*3572T>G (n.*3572T>G)
c.3675T>G (p.Phe1225Leu)
c.3858T>G (p.Phe1286Leu)
c.*511T>G (n.*511T>G)
c.*519T>G (n.*519T>G)
c.*2233T>G (n.*2233T>G)
c.3852T>G (p.Phe1284Leu)
c.*3682T>G (n.*3682T>G)
c.3432T>G (p.Phe1144Leu)
c.606T>G (p.Phe202Leu)
c.1645T>G (n.1645T>G)
c.440T>G
c.1308T>G
c.3768T>G (p.Phe1256Leu)
c.3948T>G (p.Phe1316Leu)
c.3615T>G (p.Phe1205Leu)
 dbSNP
7g.117642578T=CA1737404812CFTRc.*67T= (n.*67T=)
c.*3572T= (n.*3572T=)
c.3675T= (p.Phe1225=)
c.3858T= (p.Phe1286=)
c.*511T= (n.*511T=)
c.*519T= (n.*519T=)
c.*2233T= (n.*2233T=)
c.3852T= (p.Phe1284=)
c.*3682T= (n.*3682T=)
c.3432T= (p.Phe1144=)
c.606T= (p.Phe202=)
c.1645T= (n.1645T=)
c.440T=
c.1308T=
c.3768T= (p.Phe1256=)
c.3948T= (p.Phe1316=)
c.3615T= (p.Phe1205=)
7g.117642579G>ACA368975566CFTRc.*68G>A (n.*68G>A)
c.*3573G>A (n.*3573G>A)
c.3676G>A (p.Gly1226Arg)
c.3859G>A (p.Gly1287Arg)
c.*512G>A (n.*512G>A)
c.*520G>A (n.*520G>A)
c.*2234G>A (n.*2234G>A)
c.3853G>A (p.Gly1285Arg)
c.*3683G>A (n.*3683G>A)
c.3433G>A (p.Gly1145Arg)
c.607G>A (p.Gly203Arg)
c.1646G>A (n.1646G>A)
c.441G>A
c.1309G>A
c.3769G>A (p.Gly1257Arg)
c.3949G>A (p.Gly1317Arg)
c.3616G>A (p.Gly1206Arg)
 ClinVar dbSNP gnomAD v4
7g.117642579G>CCA368975569CFTRc.*68G>C (n.*68G>C)
c.*3573G>C (n.*3573G>C)
c.3676G>C (p.Gly1226Arg)
c.3859G>C (p.Gly1287Arg)
c.*512G>C (n.*512G>C)
c.*520G>C (n.*520G>C)
c.*2234G>C (n.*2234G>C)
c.3853G>C (p.Gly1285Arg)
c.*3683G>C (n.*3683G>C)
c.3433G>C (p.Gly1145Arg)
c.607G>C (p.Gly203Arg)
c.1646G>C (n.1646G>C)
c.441G>C
c.1309G>C
c.3769G>C (p.Gly1257Arg)
c.3949G>C (p.Gly1317Arg)
c.3616G>C (p.Gly1206Arg)
7g.117642579G=CA1737404813CFTRc.*68G= (n.*68G=)
c.*3573G= (n.*3573G=)
c.3676G= (p.Gly1226=)
c.3859G= (p.Gly1287=)
c.*512G= (n.*512G=)
c.*520G= (n.*520G=)
c.*2234G= (n.*2234G=)
c.3853G= (p.Gly1285=)
c.*3683G= (n.*3683G=)
c.3433G= (p.Gly1145=)
c.607G= (p.Gly203=)
c.1646G= (n.1646G=)
c.441G=
c.1309G=
c.3769G= (p.Gly1257=)
c.3949G= (p.Gly1317=)
c.3616G= (p.Gly1206=)
7g.117642579G>TCA368975572CFTRc.*68G>T (n.*68G>T)
c.*3573G>T (n.*3573G>T)
c.3676G>T (p.Gly1226Ter)
c.3859G>T (p.Gly1287Ter)
c.*512G>T (n.*512G>T)
c.*520G>T (n.*520G>T)
c.*2234G>T (n.*2234G>T)
c.3853G>T (p.Gly1285Ter)
c.*3683G>T (n.*3683G>T)
c.3433G>T (p.Gly1145Ter)
c.607G>T (p.Gly203Ter)
c.1646G>T (n.1646G>T)
c.441G>T
c.1309G>T
c.3769G>T (p.Gly1257Ter)
c.3949G>T (p.Gly1317Ter)
c.3616G>T (p.Gly1206Ter)
 ClinVar dbSNP
7g.117642580delCA2695205221CFTRc.*69del (n.*69del)
c.*3574del (n.*3574del)
c.3677del (p.Gly1226GlufsTer2)
c.3860del (p.Gly1287GlufsTer2)
c.*513del (n.*513del)
c.*521del (n.*521del)
c.*2235del (n.*2235del)
c.3854del (p.Gly1285GlufsTer2)
c.*3684del (n.*3684del)
c.3434del (p.Gly1145GlufsTer2)
c.608del (p.Gly203GlufsTer2)
c.1647del (n.1647del)
c.442del
c.1310del
c.3770del (p.Gly1257GlufsTer2)
c.3950del (p.Gly1317GlufsTer2)
c.3617del (p.Gly1206GlufsTer2)
7g.117642580G>ACA368975577CFTRc.*69G>A (n.*69G>A)
c.*3574G>A (n.*3574G>A)
c.3677G>A (p.Gly1226Glu)
c.3860G>A (p.Gly1287Glu)
c.*513G>A (n.*513G>A)
c.*521G>A (n.*521G>A)
c.*2235G>A (n.*2235G>A)
c.3854G>A (p.Gly1285Glu)
c.*3684G>A (n.*3684G>A)
c.3434G>A (p.Gly1145Glu)
c.608G>A (p.Gly203Glu)
c.1647G>A (n.1647G>A)
c.442G>A
c.1310G>A
c.3770G>A (p.Gly1257Glu)
c.3950G>A (p.Gly1317Glu)
c.3617G>A (p.Gly1206Glu)
7g.117642580G>CCA368975580CFTRc.*69G>C (n.*69G>C)
c.*3574G>C (n.*3574G>C)
c.3677G>C (p.Gly1226Ala)
c.3860G>C (p.Gly1287Ala)
c.*513G>C (n.*513G>C)
c.*521G>C (n.*521G>C)
c.*2235G>C (n.*2235G>C)
c.3854G>C (p.Gly1285Ala)
c.*3684G>C (n.*3684G>C)
c.3434G>C (p.Gly1145Ala)
c.608G>C (p.Gly203Ala)
c.1647G>C (n.1647G>C)
c.442G>C
c.1310G>C
c.3770G>C (p.Gly1257Ala)
c.3950G>C (p.Gly1317Ala)
c.3617G>C (p.Gly1206Ala)
7g.117642580G>TCA368975581CFTRc.*69G>T (n.*69G>T)
c.*3574G>T (n.*3574G>T)
c.3677G>T (p.Gly1226Val)
c.3860G>T (p.Gly1287Val)
c.*513G>T (n.*513G>T)
c.*521G>T (n.*521G>T)
c.*2235G>T (n.*2235G>T)
c.3854G>T (p.Gly1285Val)
c.*3684G>T (n.*3684G>T)
c.3434G>T (p.Gly1145Val)
c.608G>T (p.Gly203Val)
c.1647G>T (n.1647G>T)
c.442G>T
c.1310G>T
c.3770G>T (p.Gly1257Val)
c.3950G>T (p.Gly1317Val)
c.3617G>T (p.Gly1206Val)
7g.117642581A>CCA457228487CFTRc.*70A>C (n.*70A>C)
c.*3575A>C (n.*3575A>C)
c.3678A>C (p.Gly1226=)
c.3861A>C (p.Gly1287=)
c.*514A>C (n.*514A>C)
c.*522A>C (n.*522A>C)
c.*2236A>C (n.*2236A>C)
c.3855A>C (p.Gly1285=)
c.*3685A>C (n.*3685A>C)
c.3435A>C (p.Gly1145=)
c.609A>C (p.Gly203=)
c.1648A>C (n.1648A>C)
c.443A>C
c.1311A>C
c.3771A>C (p.Gly1257=)
c.3951A>C (p.Gly1317=)
c.3618A>C (p.Gly1206=)
7g.117642581A>GCA457228490CFTRc.*70A>G (n.*70A>G)
c.*3575A>G (n.*3575A>G)
c.3678A>G (p.Gly1226=)
c.3861A>G (p.Gly1287=)
c.*514A>G (n.*514A>G)
c.*522A>G (n.*522A>G)
c.*2236A>G (n.*2236A>G)
c.3855A>G (p.Gly1285=)
c.*3685A>G (n.*3685A>G)
c.3435A>G (p.Gly1145=)
c.609A>G (p.Gly203=)
c.1648A>G (n.1648A>G)
c.443A>G
c.1311A>G
c.3771A>G (p.Gly1257=)
c.3951A>G (p.Gly1317=)
c.3618A>G (p.Gly1206=)
7g.117642581A>TCA457228492CFTRc.*70A>T (n.*70A>T)
c.*3575A>T (n.*3575A>T)
c.3678A>T (p.Gly1226=)
c.3861A>T (p.Gly1287=)
c.*514A>T (n.*514A>T)
c.*522A>T (n.*522A>T)
c.*2236A>T (n.*2236A>T)
c.3855A>T (p.Gly1285=)
c.*3685A>T (n.*3685A>T)
c.3435A>T (p.Gly1145=)
c.609A>T (p.Gly203=)
c.1648A>T (n.1648A>T)
c.443A>T
c.1311A>T
c.3771A>T (p.Gly1257=)
c.3951A>T (p.Gly1317=)
c.3618A>T (p.Gly1206=)
7g.117642582G>ACA368975583CFTRc.*71G>A (n.*71G>A)
c.*3576G>A (n.*3576G>A)
c.3679G>A (p.Val1227Met)
c.3862G>A (p.Val1288Met)
c.*515G>A (n.*515G>A)
c.*523G>A (n.*523G>A)
c.*2237G>A (n.*2237G>A)
c.3856G>A (p.Val1286Met)
c.*3686G>A (n.*3686G>A)
c.3436G>A (p.Val1146Met)
c.610G>A (p.Val204Met)
c.1649G>A (n.1649G>A)
c.444G>A
c.1312G>A
c.3772G>A (p.Val1258Met)
c.3952G>A (p.Val1318Met)
c.3619G>A (p.Val1207Met)
 ClinVar gnomAD v4
7g.117642582G>CCA368975585CFTRc.*71G>C (n.*71G>C)
c.*3576G>C (n.*3576G>C)
c.3679G>C (p.Val1227Leu)
c.3862G>C (p.Val1288Leu)
c.*515G>C (n.*515G>C)
c.*523G>C (n.*523G>C)
c.*2237G>C (n.*2237G>C)
c.3856G>C (p.Val1286Leu)
c.*3686G>C (n.*3686G>C)
c.3436G>C (p.Val1146Leu)
c.610G>C (p.Val204Leu)
c.1649G>C (n.1649G>C)
c.444G>C
c.1312G>C
c.3772G>C (p.Val1258Leu)
c.3952G>C (p.Val1318Leu)
c.3619G>C (p.Val1207Leu)
7g.117642582G>TCA368975592CFTRc.*71G>T (n.*71G>T)
c.*3576G>T (n.*3576G>T)
c.3679G>T (p.Val1227Leu)
c.3862G>T (p.Val1288Leu)
c.*515G>T (n.*515G>T)
c.*523G>T (n.*523G>T)
c.*2237G>T (n.*2237G>T)
c.3856G>T (p.Val1286Leu)
c.*3686G>T (n.*3686G>T)
c.3436G>T (p.Val1146Leu)
c.610G>T (p.Val204Leu)
c.1649G>T (n.1649G>T)
c.444G>T
c.1312G>T
c.3772G>T (p.Val1258Leu)
c.3952G>T (p.Val1318Leu)
c.3619G>T (p.Val1207Leu)
7g.117642583T>ACA368975598CFTRc.*72T>A (n.*72T>A)
c.*3577T>A (n.*3577T>A)
c.3680T>A (p.Val1227Glu)
c.3863T>A (p.Val1288Glu)
c.*516T>A (n.*516T>A)
c.*524T>A (n.*524T>A)
c.*2238T>A (n.*2238T>A)
c.3857T>A (p.Val1286Glu)
c.*3687T>A (n.*3687T>A)
c.3437T>A (p.Val1146Glu)
c.611T>A (p.Val204Glu)
c.1650T>A (n.1650T>A)
c.445T>A
c.1313T>A
c.3773T>A (p.Val1258Glu)
c.3953T>A (p.Val1318Glu)
c.3620T>A (p.Val1207Glu)
7g.117642583T>CCA368975600CFTRc.*72T>C (n.*72T>C)
c.*3577T>C (n.*3577T>C)
c.3680T>C (p.Val1227Ala)
c.3863T>C (p.Val1288Ala)
c.*516T>C (n.*516T>C)
c.*524T>C (n.*524T>C)
c.*2238T>C (n.*2238T>C)
c.3857T>C (p.Val1286Ala)
c.*3687T>C (n.*3687T>C)
c.3437T>C (p.Val1146Ala)
c.611T>C (p.Val204Ala)
c.1650T>C (n.1650T>C)
c.445T>C
c.1313T>C
c.3773T>C (p.Val1258Ala)
c.3953T>C (p.Val1318Ala)
c.3620T>C (p.Val1207Ala)
 dbSNP gnomAD v2 gnomAD v4
7g.117642583T>GCA368975603CFTRc.*72T>G (n.*72T>G)
c.*3577T>G (n.*3577T>G)
c.3680T>G (p.Val1227Gly)
c.3863T>G (p.Val1288Gly)
c.*516T>G (n.*516T>G)
c.*524T>G (n.*524T>G)
c.*2238T>G (n.*2238T>G)
c.3857T>G (p.Val1286Gly)
c.*3687T>G (n.*3687T>G)
c.3437T>G (p.Val1146Gly)
c.611T>G (p.Val204Gly)
c.1650T>G (n.1650T>G)
c.445T>G
c.1313T>G
c.3773T>G (p.Val1258Gly)
c.3953T>G (p.Val1318Gly)
c.3620T>G (p.Val1207Gly)
7g.117642583T=CA1737404814CFTRc.*72T= (n.*72T=)
c.*3577T= (n.*3577T=)
c.3680T= (p.Val1227=)
c.3863T= (p.Val1288=)
c.*516T= (n.*516T=)
c.*524T= (n.*524T=)
c.*2238T= (n.*2238T=)
c.3857T= (p.Val1286=)
c.*3687T= (n.*3687T=)
c.3437T= (p.Val1146=)
c.611T= (p.Val204=)
c.1650T= (n.1650T=)
c.445T=
c.1313T=
c.3773T= (p.Val1258=)
c.3953T= (p.Val1318=)
c.3620T= (p.Val1207=)
7g.117642584G>ACA457228502CFTRc.*73G>A (n.*73G>A)
c.*3578G>A (n.*3578G>A)
c.3681G>A (p.Val1227=)
c.3864G>A (p.Val1288=)
c.*517G>A (n.*517G>A)
c.*525G>A (n.*525G>A)
c.*2239G>A (n.*2239G>A)
c.3858G>A (p.Val1286=)
c.*3688G>A (n.*3688G>A)
c.3438G>A (p.Val1146=)
c.612G>A (p.Val204=)
c.1651G>A (n.1651G>A)
c.446G>A
c.1314G>A
c.3774G>A (p.Val1258=)
c.3954G>A (p.Val1318=)
c.3621G>A (p.Val1207=)
 COSMIC
7g.117642584G>CCA457228503CFTRc.*73G>C (n.*73G>C)
c.*3578G>C (n.*3578G>C)
c.3681G>C (p.Val1227=)
c.3864G>C (p.Val1288=)
c.*517G>C (n.*517G>C)
c.*525G>C (n.*525G>C)
c.*2239G>C (n.*2239G>C)
c.3858G>C (p.Val1286=)
c.*3688G>C (n.*3688G>C)
c.3438G>C (p.Val1146=)
c.612G>C (p.Val204=)
c.1651G>C (n.1651G>C)
c.446G>C
c.1314G>C
c.3774G>C (p.Val1258=)
c.3954G>C (p.Val1318=)
c.3621G>C (p.Val1207=)
7g.117642584G>TCA457228505CFTRc.*73G>T (n.*73G>T)
c.*3578G>T (n.*3578G>T)
c.3681G>T (p.Val1227=)
c.3864G>T (p.Val1288=)
c.*517G>T (n.*517G>T)
c.*525G>T (n.*525G>T)
c.*2239G>T (n.*2239G>T)
c.3858G>T (p.Val1286=)
c.*3688G>T (n.*3688G>T)
c.3438G>T (p.Val1146=)
c.612G>T (p.Val204=)
c.1651G>T (n.1651G>T)
c.446G>T
c.1314G>T
c.3774G>T (p.Val1258=)
c.3954G>T (p.Val1318=)
c.3621G>T (p.Val1207=)
7g.117642585A=CA1737404815CFTRc.*74A= (n.*74A=)
c.*3579A= (n.*3579A=)
c.3682A= (p.Ile1228=)
c.3865A= (p.Ile1289=)
c.*518A= (n.*518A=)
c.*526A= (n.*526A=)
c.*2240A= (n.*2240A=)
c.3859A= (p.Ile1287=)
c.*3689A= (n.*3689A=)
c.3439A= (p.Ile1147=)
c.613A= (p.Ile205=)
c.1652A= (n.1652A=)
c.447A=
c.1315A=
c.3775A= (p.Ile1259=)
c.3955A= (p.Ile1319=)
c.3622A= (p.Ile1208=)
7g.117642585A>CCA368975610CFTRc.*74A>C (n.*74A>C)
c.*3579A>C (n.*3579A>C)
c.3682A>C (p.Ile1228Leu)
c.3865A>C (p.Ile1289Leu)
c.*518A>C (n.*518A>C)
c.*526A>C (n.*526A>C)
c.*2240A>C (n.*2240A>C)
c.3859A>C (p.Ile1287Leu)
c.*3689A>C (n.*3689A>C)
c.3439A>C (p.Ile1147Leu)
c.613A>C (p.Ile205Leu)
c.1652A>C (n.1652A>C)
c.447A>C
c.1315A>C
c.3775A>C (p.Ile1259Leu)
c.3955A>C (p.Ile1319Leu)
c.3622A>C (p.Ile1208Leu)
7g.117642585A>GCA368975606CFTRc.*74A>G (n.*74A>G)
c.*3579A>G (n.*3579A>G)
c.3682A>G (p.Ile1228Val)
c.3865A>G (p.Ile1289Val)
c.*518A>G (n.*518A>G)
c.*526A>G (n.*526A>G)
c.*2240A>G (n.*2240A>G)
c.3859A>G (p.Ile1287Val)
c.*3689A>G (n.*3689A>G)
c.3439A>G (p.Ile1147Val)
c.613A>G (p.Ile205Val)
c.1652A>G (n.1652A>G)
c.447A>G
c.1315A>G
c.3775A>G (p.Ile1259Val)
c.3955A>G (p.Ile1319Val)
c.3622A>G (p.Ile1208Val)
 dbSNP gnomAD v2 gnomAD v4
7g.117642585A>TCA368975608CFTRc.*74A>T (n.*74A>T)
c.*3579A>T (n.*3579A>T)
c.3682A>T (p.Ile1228Leu)
c.3865A>T (p.Ile1289Leu)
c.*518A>T (n.*518A>T)
c.*526A>T (n.*526A>T)
c.*2240A>T (n.*2240A>T)
c.3859A>T (p.Ile1287Leu)
c.*3689A>T (n.*3689A>T)
c.3439A>T (p.Ile1147Leu)
c.613A>T (p.Ile205Leu)
c.1652A>T (n.1652A>T)
c.447A>T
c.1315A>T
c.3775A>T (p.Ile1259Leu)
c.3955A>T (p.Ile1319Leu)
c.3622A>T (p.Ile1208Leu)
7g.117642586T>ACA4451559CFTRc.*75T>A (n.*75T>A)
c.*3580T>A (n.*3580T>A)
c.3683T>A (p.Ile1228Lys)
c.3866T>A (p.Ile1289Lys)
c.*519T>A (n.*519T>A)
c.*527T>A (n.*527T>A)
c.*2241T>A (n.*2241T>A)
c.3860T>A (p.Ile1287Lys)
c.*3690T>A (n.*3690T>A)
c.3440T>A (p.Ile1147Lys)
c.614T>A (p.Ile205Lys)
c.1653T>A (n.1653T>A)
c.448T>A
c.1316T>A
c.3776T>A (p.Ile1259Lys)
c.3956T>A (p.Ile1319Lys)
c.3623T>A (p.Ile1208Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117642586T>CCA368975614CFTRc.*75T>C (n.*75T>C)
c.*3580T>C (n.*3580T>C)
c.3683T>C (p.Ile1228Thr)
c.3866T>C (p.Ile1289Thr)
c.*519T>C (n.*519T>C)
c.*527T>C (n.*527T>C)
c.*2241T>C (n.*2241T>C)
c.3860T>C (p.Ile1287Thr)
c.*3690T>C (n.*3690T>C)
c.3440T>C (p.Ile1147Thr)
c.614T>C (p.Ile205Thr)
c.1653T>C (n.1653T>C)
c.448T>C
c.1316T>C
c.3776T>C (p.Ile1259Thr)
c.3956T>C (p.Ile1319Thr)
c.3623T>C (p.Ile1208Thr)
7g.117642586T>GCA368975616CFTRc.*75T>G (n.*75T>G)
c.*3580T>G (n.*3580T>G)
c.3683T>G (p.Ile1228Arg)
c.3866T>G (p.Ile1289Arg)
c.*519T>G (n.*519T>G)
c.*527T>G (n.*527T>G)
c.*2241T>G (n.*2241T>G)
c.3860T>G (p.Ile1287Arg)
c.*3690T>G (n.*3690T>G)
c.3440T>G (p.Ile1147Arg)
c.614T>G (p.Ile205Arg)
c.1653T>G (n.1653T>G)
c.448T>G
c.1316T>G
c.3776T>G (p.Ile1259Arg)
c.3956T>G (p.Ile1319Arg)
c.3623T>G (p.Ile1208Arg)
7g.117642586T=CA1737404816CFTRc.*75T= (n.*75T=)
c.*3580T= (n.*3580T=)
c.3683T= (p.Ile1228=)
c.3866T= (p.Ile1289=)
c.*519T= (n.*519T=)
c.*527T= (n.*527T=)
c.*2241T= (n.*2241T=)
c.3860T= (p.Ile1287=)
c.*3690T= (n.*3690T=)
c.3440T= (p.Ile1147=)
c.614T= (p.Ile205=)
c.1653T= (n.1653T=)
c.448T=
c.1316T=
c.3776T= (p.Ile1259=)
c.3956T= (p.Ile1319=)
c.3623T= (p.Ile1208=)
7g.117642587A>CCA457228517CFTRc.*76A>C (n.*76A>C)
c.*3581A>C (n.*3581A>C)
c.3684A>C (p.Ile1228=)
c.3867A>C (p.Ile1289=)
c.*520A>C (n.*520A>C)
c.*528A>C (n.*528A>C)
c.*2242A>C (n.*2242A>C)
c.3861A>C (p.Ile1287=)
c.*3691A>C (n.*3691A>C)
c.3441A>C (p.Ile1147=)
c.615A>C (p.Ile205=)
c.1654A>C (n.1654A>C)
c.449A>C
c.1317A>C
c.3777A>C (p.Ile1259=)
c.3957A>C (p.Ile1319=)
c.3624A>C (p.Ile1208=)

Number of alleles fetched