Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117642410_117643191delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC | CA1737404713 | CFTR | c.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 | |
7 | g.117642414_117643194del | CA327259 | CFTR | c.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 |
7 | g.117642448_117642463dup | CA2695205217 | CFTR | c.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) | |
7 | g.117642456del | CA2573141566 | CFTR | c.3536del (p.Asn1179ThrfsTer?) c.*3450del (n.*3450del) c.3553del (p.Thr1185LeufsTer13) c.3736del (p.Thr1246LeufsTer13) c.*389del (n.*389del) c.*397del (n.*397del) c.*2111del (n.*2111del) c.3730del (p.Thr1244LeufsTer13) c.*3560del (n.*3560del) c.3310del (p.Thr1104LeufsTer13) c.484del (p.Thr162LeufsTer13) c.1523del (n.1523del) c.318del c.1186del c.3646del (p.Thr1216LeufsTer13) c.3826del (p.Thr1276LeufsTer13) c.3493del (p.Thr1165LeufsTer13) | ClinVar dbSNP |
7 | g.117642456A>C | CA368974476 | CFTR | c.3536A>C (p.Asn1179Thr) c.*3450A>C (n.*3450A>C) c.3553A>C (p.Thr1185Pro) c.3736A>C (p.Thr1246Pro) c.*389A>C (n.*389A>C) c.*397A>C (n.*397A>C) c.*2111A>C (n.*2111A>C) c.3730A>C (p.Thr1244Pro) c.*3560A>C (n.*3560A>C) c.3310A>C (p.Thr1104Pro) c.484A>C (p.Thr162Pro) c.1523A>C (n.1523A>C) c.318A>C c.1186A>C c.3646A>C (p.Thr1216Pro) c.3826A>C (p.Thr1276Pro) c.3493A>C (p.Thr1165Pro) | |
7 | g.117642456A>G | CA368974477 | CFTR | c.3536A>G (p.Asn1179Ser) c.*3450A>G (n.*3450A>G) c.3553A>G (p.Thr1185Ala) c.3736A>G (p.Thr1246Ala) c.*389A>G (n.*389A>G) c.*397A>G (n.*397A>G) c.*2111A>G (n.*2111A>G) c.3730A>G (p.Thr1244Ala) c.*3560A>G (n.*3560A>G) c.3310A>G (p.Thr1104Ala) c.484A>G (p.Thr162Ala) c.1523A>G (n.1523A>G) c.318A>G c.1186A>G c.3646A>G (p.Thr1216Ala) c.3826A>G (p.Thr1276Ala) c.3493A>G (p.Thr1165Ala) | |
7 | g.117642456A>T | CA368974480 | CFTR | c.3536A>T (p.Asn1179Ile) c.*3450A>T (n.*3450A>T) c.3553A>T (p.Thr1185Ser) c.3736A>T (p.Thr1246Ser) c.*389A>T (n.*389A>T) c.*397A>T (n.*397A>T) c.*2111A>T (n.*2111A>T) c.3730A>T (p.Thr1244Ser) c.*3560A>T (n.*3560A>T) c.3310A>T (p.Thr1104Ser) c.484A>T (p.Thr162Ser) c.1523A>T (n.1523A>T) c.318A>T c.1186A>T c.3646A>T (p.Thr1216Ser) c.3826A>T (p.Thr1276Ser) c.3493A>T (p.Thr1165Ser) | |
7 | g.117642457del | CA2684620471 | CFTR | c.3537del (p.Trp1180GlyfsTer?) c.*3451del (n.*3451del) c.3554del (p.Thr1185MetfsTer13) c.3737del (p.Thr1246MetfsTer13) c.*390del (n.*390del) c.*398del (n.*398del) c.*2112del (n.*2112del) c.3731del (p.Thr1244MetfsTer13) c.*3561del (n.*3561del) c.3311del (p.Thr1104MetfsTer13) c.485del (p.Thr162MetfsTer13) c.1524del (n.1524del) c.319del c.1187del c.3647del (p.Thr1216MetfsTer13) c.3827del (p.Thr1276MetfsTer13) c.3494del (p.Thr1165MetfsTer13) | gnomAD v4 |
7 | g.117642457C>A | CA368974482 | CFTR | c.3537C>A (p.Asn1179Lys) c.*3451C>A (n.*3451C>A) c.3554C>A (p.Thr1185Asn) c.3737C>A (p.Thr1246Asn) c.*390C>A (n.*390C>A) c.*398C>A (n.*398C>A) c.*2112C>A (n.*2112C>A) c.3731C>A (p.Thr1244Asn) c.*3561C>A (n.*3561C>A) c.3311C>A (p.Thr1104Asn) c.485C>A (p.Thr162Asn) c.1524C>A (n.1524C>A) c.319C>A c.1187C>A c.3647C>A (p.Thr1216Asn) c.3827C>A (p.Thr1276Asn) c.3494C>A (p.Thr1165Asn) | |
7 | g.117642457C= | CA1737404735 | CFTR | c.3537C= (p.Asn1179=) c.*3451C= (n.*3451C=) c.3554C= (p.Thr1185=) c.3737C= (p.Thr1246=) c.*390C= (n.*390C=) c.*398C= (n.*398C=) c.*2112C= (n.*2112C=) c.3731C= (p.Thr1244=) c.*3561C= (n.*3561C=) c.3311C= (p.Thr1104=) c.485C= (p.Thr162=) c.1524C= (n.1524C=) c.319C= c.1187C= c.3647C= (p.Thr1216=) c.3827C= (p.Thr1276=) c.3494C= (p.Thr1165=) | |
7 | g.117642457C>G | CA368974483 | CFTR | c.3537C>G (p.Asn1179Lys) c.*3451C>G (n.*3451C>G) c.3554C>G (p.Thr1185Ser) c.3737C>G (p.Thr1246Ser) c.*390C>G (n.*390C>G) c.*398C>G (n.*398C>G) c.*2112C>G (n.*2112C>G) c.3731C>G (p.Thr1244Ser) c.*3561C>G (n.*3561C>G) c.3311C>G (p.Thr1104Ser) c.485C>G (p.Thr162Ser) c.1524C>G (n.1524C>G) c.319C>G c.1187C>G c.3647C>G (p.Thr1216Ser) c.3827C>G (p.Thr1276Ser) c.3494C>G (p.Thr1165Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117642457C>T | CA327268 | CFTR | c.3537C>T (p.Asn1179=) c.*3451C>T (n.*3451C>T) c.3554C>T (p.Thr1185Ile) c.3737C>T (p.Thr1246Ile) c.*390C>T (n.*390C>T) c.*398C>T (n.*398C>T) c.*2112C>T (n.*2112C>T) c.3731C>T (p.Thr1244Ile) c.*3561C>T (n.*3561C>T) c.3311C>T (p.Thr1104Ile) c.485C>T (p.Thr162Ile) c.1524C>T (n.1524C>T) c.319C>T c.1187C>T c.3647C>T (p.Thr1216Ile) c.3827C>T (p.Thr1276Ile) c.3494C>T (p.Thr1165Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642458T>A | CA457228065 | CFTR | c.3538T>A (p.Trp1180Arg) c.*3452T>A (n.*3452T>A) c.3555T>A (p.Thr1185=) c.3738T>A (p.Thr1246=) c.*391T>A (n.*391T>A) c.*399T>A (n.*399T>A) c.*2113T>A (n.*2113T>A) c.3732T>A (p.Thr1244=) c.*3562T>A (n.*3562T>A) c.3312T>A (p.Thr1104=) c.486T>A (p.Thr162=) c.1525T>A (n.1525T>A) c.320T>A c.1188T>A c.3648T>A (p.Thr1216=) c.3828T>A (p.Thr1276=) c.3495T>A (p.Thr1165=) | |
7 | g.117642458T>C | CA457228066 | CFTR | c.3538T>C (p.Trp1180Arg) c.*3452T>C (n.*3452T>C) c.3555T>C (p.Thr1185=) c.3738T>C (p.Thr1246=) c.*391T>C (n.*391T>C) c.*399T>C (n.*399T>C) c.*2113T>C (n.*2113T>C) c.3732T>C (p.Thr1244=) c.*3562T>C (n.*3562T>C) c.3312T>C (p.Thr1104=) c.486T>C (p.Thr162=) c.1525T>C (n.1525T>C) c.320T>C c.1188T>C c.3648T>C (p.Thr1216=) c.3828T>C (p.Thr1276=) c.3495T>C (p.Thr1165=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642458T>G | CA457228067 | CFTR | c.3538T>G (p.Trp1180Gly) c.*3452T>G (n.*3452T>G) c.3555T>G (p.Thr1185=) c.3738T>G (p.Thr1246=) c.*391T>G (n.*391T>G) c.*399T>G (n.*399T>G) c.*2113T>G (n.*2113T>G) c.3732T>G (p.Thr1244=) c.*3562T>G (n.*3562T>G) c.3312T>G (p.Thr1104=) c.486T>G (p.Thr162=) c.1525T>G (n.1525T>G) c.320T>G c.1188T>G c.3648T>G (p.Thr1216=) c.3828T>G (p.Thr1276=) c.3495T>G (p.Thr1165=) | |
7 | g.117642458T= | CA1737404736 | CFTR | c.3538T= (p.Trp1180=) c.*3452T= (n.*3452T=) c.3555T= (p.Thr1185=) c.3738T= (p.Thr1246=) c.*391T= (n.*391T=) c.*399T= (n.*399T=) c.*2113T= (n.*2113T=) c.3732T= (p.Thr1244=) c.*3562T= (n.*3562T=) c.3312T= (p.Thr1104=) c.486T= (p.Thr162=) c.1525T= (n.1525T=) c.320T= c.1188T= c.3648T= (p.Thr1216=) c.3828T= (p.Thr1276=) c.3495T= (p.Thr1165=) | |
7 | g.117642459G>A | CA368974490 | CFTR | c.3539G>A (p.Trp1180Ter) c.*3453G>A (n.*3453G>A) c.3556G>A (p.Gly1186Arg) c.3739G>A (p.Gly1247Arg) c.*392G>A (n.*392G>A) c.*400G>A (n.*400G>A) c.*2114G>A (n.*2114G>A) c.3733G>A (p.Gly1245Arg) c.*3563G>A (n.*3563G>A) c.3313G>A (p.Gly1105Arg) c.487G>A (p.Gly163Arg) c.1526G>A (n.1526G>A) c.321G>A c.1189G>A c.3649G>A (p.Gly1217Arg) c.3829G>A (p.Gly1277Arg) c.3496G>A (p.Gly1166Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.117642459G>C | CA327270 | CFTR | c.3539G>C (p.Trp1180Ser) c.*3453G>C (n.*3453G>C) c.3556G>C (p.Gly1186Arg) c.3739G>C (p.Gly1247Arg) c.*392G>C (n.*392G>C) c.*400G>C (n.*400G>C) c.*2114G>C (n.*2114G>C) c.3733G>C (p.Gly1245Arg) c.*3563G>C (n.*3563G>C) c.3313G>C (p.Gly1105Arg) c.487G>C (p.Gly163Arg) c.1526G>C (n.1526G>C) c.321G>C c.1189G>C c.3649G>C (p.Gly1217Arg) c.3829G>C (p.Gly1277Arg) c.3496G>C (p.Gly1166Arg) | dbSNP |
7 | g.117642459G= | CA1737404737 | CFTR | c.3539G= (p.Trp1180=) c.*3453G= (n.*3453G=) c.3556G= (p.Gly1186=) c.3739G= (p.Gly1247=) c.*392G= (n.*392G=) c.*400G= (n.*400G=) c.*2114G= (n.*2114G=) c.3733G= (p.Gly1245=) c.*3563G= (n.*3563G=) c.3313G= (p.Gly1105=) c.487G= (p.Gly163=) c.1526G= (n.1526G=) c.321G= c.1189G= c.3649G= (p.Gly1217=) c.3829G= (p.Gly1277=) c.3496G= (p.Gly1166=) | |
7 | g.117642459G>T | CA368974488 | CFTR | c.3539G>T (p.Trp1180Leu) c.*3453G>T (n.*3453G>T) c.3556G>T (p.Gly1186Ter) c.3739G>T (p.Gly1247Ter) c.*392G>T (n.*392G>T) c.*400G>T (n.*400G>T) c.*2114G>T (n.*2114G>T) c.3733G>T (p.Gly1245Ter) c.*3563G>T (n.*3563G>T) c.3313G>T (p.Gly1105Ter) c.487G>T (p.Gly163Ter) c.1526G>T (n.1526G>T) c.321G>T c.1189G>T c.3649G>T (p.Gly1217Ter) c.3829G>T (p.Gly1277Ter) c.3496G>T (p.Gly1166Ter) | ClinVar |
7 | g.117642460G>A | CA368974496 | CFTR | c.3540G>A (p.Trp1180Ter) c.*3454G>A (n.*3454G>A) c.3557G>A (p.Gly1186Glu) c.3740G>A (p.Gly1247Glu) c.*393G>A (n.*393G>A) c.*401G>A (n.*401G>A) c.*2115G>A (n.*2115G>A) c.3734G>A (p.Gly1245Glu) c.*3564G>A (n.*3564G>A) c.3314G>A (p.Gly1105Glu) c.488G>A (p.Gly163Glu) c.1527G>A (n.1527G>A) c.322G>A c.1190G>A c.3650G>A (p.Gly1217Glu) c.3830G>A (p.Gly1277Glu) c.3497G>A (p.Gly1166Glu) | ClinVar |
7 | g.117642460G>C | CA368974497 | CFTR | c.3540G>C (p.Trp1180Cys) c.*3454G>C (n.*3454G>C) c.3557G>C (p.Gly1186Ala) c.3740G>C (p.Gly1247Ala) c.*393G>C (n.*393G>C) c.*401G>C (n.*401G>C) c.*2115G>C (n.*2115G>C) c.3734G>C (p.Gly1245Ala) c.*3564G>C (n.*3564G>C) c.3314G>C (p.Gly1105Ala) c.488G>C (p.Gly163Ala) c.1527G>C (n.1527G>C) c.322G>C c.1190G>C c.3650G>C (p.Gly1217Ala) c.3830G>C (p.Gly1277Ala) c.3497G>C (p.Gly1166Ala) | |
7 | g.117642460G>T | CA368974499 | CFTR | c.3540G>T (p.Trp1180Cys) c.*3454G>T (n.*3454G>T) c.3557G>T (p.Gly1186Val) c.3740G>T (p.Gly1247Val) c.*393G>T (n.*393G>T) c.*401G>T (n.*401G>T) c.*2115G>T (n.*2115G>T) c.3734G>T (p.Gly1245Val) c.*3564G>T (n.*3564G>T) c.3314G>T (p.Gly1105Val) c.488G>T (p.Gly163Val) c.1527G>T (n.1527G>T) c.322G>T c.1190G>T c.3650G>T (p.Gly1217Val) c.3830G>T (p.Gly1277Val) c.3497G>T (p.Gly1166Val) | ClinVar |
7 | g.117642461_117642465dup | CA2573052808 | CFTR | c.3541_3545dup (p.Glu1183SerfsTer?) c.*3455_*3459dup (n.*3455_*3459dup) c.3558_3562dup (p.Gly1188AspfsTer12) c.3741_3745dup (p.Gly1249AspfsTer12) c.*394_*398dup (n.*394_*398dup) c.*402_*406dup (n.*402_*406dup) c.*2116_*2120dup (n.*2116_*2120dup) c.3735_3739dup (p.Gly1247AspfsTer12) c.*3565_*3569dup (n.*3565_*3569dup) c.3315_3319dup (p.Gly1107AspfsTer12) c.489_493dup (p.Gly165AspfsTer12) c.1528_1532dup (n.1528_1532dup) c.323_327dup c.1191_1195dup c.3651_3655dup (p.Gly1219AspfsTer12) c.3831_3835dup (p.Gly1279AspfsTer12) c.3498_3502dup (p.Gly1168AspfsTer12) | ClinVar dbSNP |
7 | g.117642461A= | CA1737404738 | CFTR | c.3541A= (p.Ile1181=) c.*3455A= (n.*3455A=) c.3558A= (p.Gly1186=) c.3741A= (p.Gly1247=) c.*394A= (n.*394A=) c.*402A= (n.*402A=) c.*2116A= (n.*2116A=) c.3735A= (p.Gly1245=) c.*3565A= (n.*3565A=) c.3315A= (p.Gly1105=) c.489A= (p.Gly163=) c.1528A= (n.1528A=) c.323A= c.1191A= c.3651A= (p.Gly1217=) c.3831A= (p.Gly1277=) c.3498A= (p.Gly1166=) | |
7 | g.117642461A>C | CA457228068 | CFTR | c.3541A>C (p.Ile1181Leu) c.*3455A>C (n.*3455A>C) c.3558A>C (p.Gly1186=) c.3741A>C (p.Gly1247=) c.*394A>C (n.*394A>C) c.*402A>C (n.*402A>C) c.*2116A>C (n.*2116A>C) c.3735A>C (p.Gly1245=) c.*3565A>C (n.*3565A>C) c.3315A>C (p.Gly1105=) c.489A>C (p.Gly163=) c.1528A>C (n.1528A>C) c.323A>C c.1191A>C c.3651A>C (p.Gly1217=) c.3831A>C (p.Gly1277=) c.3498A>C (p.Gly1166=) | |
7 | g.117642461A>G | CA457228069 | CFTR | c.3541A>G (p.Ile1181Val) c.*3455A>G (n.*3455A>G) c.3558A>G (p.Gly1186=) c.3741A>G (p.Gly1247=) c.*394A>G (n.*394A>G) c.*402A>G (n.*402A>G) c.*2116A>G (n.*2116A>G) c.3735A>G (p.Gly1245=) c.*3565A>G (n.*3565A>G) c.3315A>G (p.Gly1105=) c.489A>G (p.Gly163=) c.1528A>G (n.1528A>G) c.323A>G c.1191A>G c.3651A>G (p.Gly1217=) c.3831A>G (p.Gly1277=) c.3498A>G (p.Gly1166=) | ClinVar dbSNP gnomAD v4 |
7 | g.117642461A>T | CA457228070 | CFTR | c.3541A>T (p.Ile1181Phe) c.*3455A>T (n.*3455A>T) c.3558A>T (p.Gly1186=) c.3741A>T (p.Gly1247=) c.*394A>T (n.*394A>T) c.*402A>T (n.*402A>T) c.*2116A>T (n.*2116A>T) c.3735A>T (p.Gly1245=) c.*3565A>T (n.*3565A>T) c.3315A>T (p.Gly1105=) c.489A>T (p.Gly163=) c.1528A>T (n.1528A>T) c.323A>T c.1191A>T c.3651A>T (p.Gly1217=) c.3831A>T (p.Gly1277=) c.3498A>T (p.Gly1166=) | ClinVar dbSNP |
7 | g.117642461_117642462insATCAG | CA915945447 | CFTR | c.3541_3542insATCAG (p.Ile1181AsnfsTer?) c.*3455_*3456insATCAG (n.*3455_*3456insATCAG) c.3558_3559insATCAG (p.Ser1187IlefsTer13) c.3741_3742insATCAG (p.Ser1248IlefsTer13) c.*394_*395insATCAG (n.*394_*395insATCAG) c.*402_*403insATCAG (n.*402_*403insATCAG) c.*2116_*2117insATCAG (n.*2116_*2117insATCAG) c.3735_3736insATCAG (p.Ser1246IlefsTer13) c.*3565_*3566insATCAG (n.*3565_*3566insATCAG) c.3315_3316insATCAG (p.Ser1106IlefsTer13) c.489_490insATCAG (p.Ser164IlefsTer13) c.1528_1529insATCAG (n.1528_1529insATCAG) c.323_324insATCAG c.1191_1192insATCAG c.3651_3652insATCAG (p.Ser1218IlefsTer13) c.3831_3832insATCAG (p.Ser1278IlefsTer13) c.3498_3499insATCAG (p.Ser1167IlefsTer13) | |
7 | g.117642462T>A | CA368974502 | CFTR | c.3542T>A (p.Ile1181Asn) c.*3456T>A (n.*3456T>A) c.3559T>A (p.Ser1187Thr) c.3742T>A (p.Ser1248Thr) c.*395T>A (n.*395T>A) c.*403T>A (n.*403T>A) c.*2117T>A (n.*2117T>A) c.3736T>A (p.Ser1246Thr) c.*3566T>A (n.*3566T>A) c.3316T>A (p.Ser1106Thr) c.490T>A (p.Ser164Thr) c.1529T>A (n.1529T>A) c.324T>A c.1192T>A c.3652T>A (p.Ser1218Thr) c.3832T>A (p.Ser1278Thr) c.3499T>A (p.Ser1167Thr) | |
7 | g.117642462T>C | CA368974504 | CFTR | c.3542T>C (p.Ile1181Thr) c.*3456T>C (n.*3456T>C) c.3559T>C (p.Ser1187Pro) c.3742T>C (p.Ser1248Pro) c.*395T>C (n.*395T>C) c.*403T>C (n.*403T>C) c.*2117T>C (n.*2117T>C) c.3736T>C (p.Ser1246Pro) c.*3566T>C (n.*3566T>C) c.3316T>C (p.Ser1106Pro) c.490T>C (p.Ser164Pro) c.1529T>C (n.1529T>C) c.324T>C c.1192T>C c.3652T>C (p.Ser1218Pro) c.3832T>C (p.Ser1278Pro) c.3499T>C (p.Ser1167Pro) | dbSNP |
7 | g.117642462T>G | CA368974507 | CFTR | c.3542T>G (p.Ile1181Ser) c.*3456T>G (n.*3456T>G) c.3559T>G (p.Ser1187Ala) c.3742T>G (p.Ser1248Ala) c.*395T>G (n.*395T>G) c.*403T>G (n.*403T>G) c.*2117T>G (n.*2117T>G) c.3736T>G (p.Ser1246Ala) c.*3566T>G (n.*3566T>G) c.3316T>G (p.Ser1106Ala) c.490T>G (p.Ser164Ala) c.1529T>G (n.1529T>G) c.324T>G c.1192T>G c.3652T>G (p.Ser1218Ala) c.3832T>G (p.Ser1278Ala) c.3499T>G (p.Ser1167Ala) | |
7 | g.117642463C>A | CA368974509 | CFTR | c.3543C>A (p.Ile1181=) c.*3457C>A (n.*3457C>A) c.3560C>A (p.Ser1187Ter) c.3743C>A (p.Ser1248Ter) c.*396C>A (n.*396C>A) c.*404C>A (n.*404C>A) c.*2118C>A (n.*2118C>A) c.3737C>A (p.Ser1246Ter) c.*3567C>A (n.*3567C>A) c.3317C>A (p.Ser1106Ter) c.491C>A (p.Ser164Ter) c.1530C>A (n.1530C>A) c.325C>A c.1193C>A c.3653C>A (p.Ser1218Ter) c.3833C>A (p.Ser1278Ter) c.3500C>A (p.Ser1167Ter) | COSMIC |
7 | g.117642463C= | CA1737404740 | CFTR | c.3543C= (p.Ile1181=) c.*3457C= (n.*3457C=) c.3560C= (p.Ser1187=) c.3743C= (p.Ser1248=) c.*396C= (n.*396C=) c.*404C= (n.*404C=) c.*2118C= (n.*2118C=) c.3737C= (p.Ser1246=) c.*3567C= (n.*3567C=) c.3317C= (p.Ser1106=) c.491C= (p.Ser164=) c.1530C= (n.1530C=) c.325C= c.1193C= c.3653C= (p.Ser1218=) c.3833C= (p.Ser1278=) c.3500C= (p.Ser1167=) | |
7 | g.117642463C>G | CA368974511 | CFTR | c.3543C>G (p.Ile1181Met) c.*3457C>G (n.*3457C>G) c.3560C>G (p.Ser1187Ter) c.3743C>G (p.Ser1248Ter) c.*396C>G (n.*396C>G) c.*404C>G (n.*404C>G) c.*2118C>G (n.*2118C>G) c.3737C>G (p.Ser1246Ter) c.*3567C>G (n.*3567C>G) c.3317C>G (p.Ser1106Ter) c.491C>G (p.Ser164Ter) c.1530C>G (n.1530C>G) c.325C>G c.1193C>G c.3653C>G (p.Ser1218Ter) c.3833C>G (p.Ser1278Ter) c.3500C>G (p.Ser1167Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117642463C>T | CA164947490 | CFTR | c.3543C>T (p.Ile1181=) c.*3457C>T (n.*3457C>T) c.3560C>T (p.Ser1187Leu) c.3743C>T (p.Ser1248Leu) c.*396C>T (n.*396C>T) c.*404C>T (n.*404C>T) c.*2118C>T (n.*2118C>T) c.3737C>T (p.Ser1246Leu) c.*3567C>T (n.*3567C>T) c.3317C>T (p.Ser1106Leu) c.491C>T (p.Ser164Leu) c.1530C>T (n.1530C>T) c.325C>T c.1193C>T c.3653C>T (p.Ser1218Leu) c.3833C>T (p.Ser1278Leu) c.3500C>T (p.Ser1167Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.117642463_117642464delinsCA | CA1737404739 | CFTR | c.3543_3544delinsCA (p.Ile1181=) c.*3457_*3458delinsCA (n.*3457_*3458delinsCA) c.3560_3561delinsCA (p.Ser1187=) c.3743_3744delinsCA (p.Ser1248=) c.*396_*397delinsCA (n.*396_*397delinsCA) c.*404_*405delinsCA (n.*404_*405delinsCA) c.*2118_*2119delinsCA (n.*2118_*2119delinsCA) c.3737_3738delinsCA (p.Ser1246=) c.*3567_*3568delinsCA (n.*3567_*3568delinsCA) c.3317_3318delinsCA (p.Ser1106=) c.491_492delinsCA (p.Ser164=) c.1530_1531delinsCA (n.1530_1531delinsCA) c.325_326delinsCA c.1193_1194delinsCA c.3653_3654delinsCA (p.Ser1218=) c.3833_3834delinsCA (p.Ser1278=) c.3500_3501delinsCA (p.Ser1167=) | |
7 | g.117642464del | CA325611 | CFTR | c.3544del (p.Arg1182GlyfsTer?) c.*3458del (n.*3458del) c.3561del (p.Lys1189ArgfsTer9) c.3744del (p.Lys1250ArgfsTer9) c.*397del (n.*397del) c.*405del (n.*405del) c.*2119del (n.*2119del) c.3738del (p.Lys1248ArgfsTer9) c.*3568del (n.*3568del) c.3318del (p.Lys1108ArgfsTer9) c.492del (p.Lys166ArgfsTer9) c.1531del (n.1531del) c.326del c.1194del c.3654del (p.Lys1220ArgfsTer9) c.3834del (p.Lys1280ArgfsTer9) c.3501del (p.Lys1169ArgfsTer9) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642464A= | CA1737404741 | CFTR | c.3544A= (p.Arg1182=) c.*3458A= (n.*3458A=) c.3561A= (p.Ser1187=) c.3744A= (p.Ser1248=) c.*397A= (n.*397A=) c.*405A= (n.*405A=) c.*2119A= (n.*2119A=) c.3738A= (p.Ser1246=) c.*3568A= (n.*3568A=) c.3318A= (p.Ser1106=) c.492A= (p.Ser164=) c.1531A= (n.1531A=) c.326A= c.1194A= c.3654A= (p.Ser1218=) c.3834A= (p.Ser1278=) c.3501A= (p.Ser1167=) | |
7 | g.117642464A>C | CA457228071 | CFTR | c.3544A>C (p.Arg1182=) c.*3458A>C (n.*3458A>C) c.3561A>C (p.Ser1187=) c.3744A>C (p.Ser1248=) c.*397A>C (n.*397A>C) c.*405A>C (n.*405A>C) c.*2119A>C (n.*2119A>C) c.3738A>C (p.Ser1246=) c.*3568A>C (n.*3568A>C) c.3318A>C (p.Ser1106=) c.492A>C (p.Ser164=) c.1531A>C (n.1531A>C) c.326A>C c.1194A>C c.3654A>C (p.Ser1218=) c.3834A>C (p.Ser1278=) c.3501A>C (p.Ser1167=) | dbSNP gnomAD v4 |
7 | g.117642464A>G | CA457228072 | CFTR | c.3544A>G (p.Arg1182Gly) c.*3458A>G (n.*3458A>G) c.3561A>G (p.Ser1187=) c.3744A>G (p.Ser1248=) c.*397A>G (n.*397A>G) c.*405A>G (n.*405A>G) c.*2119A>G (n.*2119A>G) c.3738A>G (p.Ser1246=) c.*3568A>G (n.*3568A>G) c.3318A>G (p.Ser1106=) c.492A>G (p.Ser164=) c.1531A>G (n.1531A>G) c.326A>G c.1194A>G c.3654A>G (p.Ser1218=) c.3834A>G (p.Ser1278=) c.3501A>G (p.Ser1167=) | ClinVar gnomAD v4 |
7 | g.117642464A>T | CA164947494 | CFTR | c.3544A>T (p.Arg1182Trp) c.*3458A>T (n.*3458A>T) c.3561A>T (p.Ser1187=) c.3744A>T (p.Ser1248=) c.*397A>T (n.*397A>T) c.*405A>T (n.*405A>T) c.*2119A>T (n.*2119A>T) c.3738A>T (p.Ser1246=) c.*3568A>T (n.*3568A>T) c.3318A>T (p.Ser1106=) c.492A>T (p.Ser164=) c.1531A>T (n.1531A>T) c.326A>T c.1194A>T c.3654A>T (p.Ser1218=) c.3834A>T (p.Ser1278=) c.3501A>T (p.Ser1167=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117642464_117642465delinsAG | CA1737404742 | CFTR | c.3544_3545delinsAG (p.Arg1182=) c.*3458_*3459delinsAG (n.*3458_*3459delinsAG) c.3561_3562delinsAG (p.Ser1187=) c.3744_3745delinsAG (p.Ser1248=) c.*397_*398delinsAG (n.*397_*398delinsAG) c.*405_*406delinsAG (n.*405_*406delinsAG) c.*2119_*2120delinsAG (n.*2119_*2120delinsAG) c.3738_3739delinsAG (p.Ser1246=) c.*3568_*3569delinsAG (n.*3568_*3569delinsAG) c.3318_3319delinsAG (p.Ser1106=) c.492_493delinsAG (p.Ser164=) c.1531_1532delinsAG (n.1531_1532delinsAG) c.326_327delinsAG c.1194_1195delinsAG c.3654_3655delinsAG (p.Ser1218=) c.3834_3835delinsAG (p.Ser1278=) c.3501_3502delinsAG (p.Ser1167=) | |
7 | g.117642465G>A | CA327272 | CFTR | c.3545G>A (p.Arg1182Lys) c.*3459G>A (n.*3459G>A) c.3562G>A (p.Gly1188Arg) c.3745G>A (p.Gly1249Arg) c.*398G>A (n.*398G>A) c.*406G>A (n.*406G>A) c.*2120G>A (n.*2120G>A) c.3739G>A (p.Gly1247Arg) c.*3569G>A (n.*3569G>A) c.3319G>A (p.Gly1107Arg) c.493G>A (p.Gly165Arg) c.1532G>A (n.1532G>A) c.327G>A c.1195G>A c.3655G>A (p.Gly1219Arg) c.3835G>A (p.Gly1279Arg) c.3502G>A (p.Gly1168Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117642465G>C | CA368974518 | CFTR | c.3545G>C (p.Arg1182Thr) c.*3459G>C (n.*3459G>C) c.3562G>C (p.Gly1188Arg) c.3745G>C (p.Gly1249Arg) c.*398G>C (n.*398G>C) c.*406G>C (n.*406G>C) c.*2120G>C (n.*2120G>C) c.3739G>C (p.Gly1247Arg) c.*3569G>C (n.*3569G>C) c.3319G>C (p.Gly1107Arg) c.493G>C (p.Gly165Arg) c.1532G>C (n.1532G>C) c.327G>C c.1195G>C c.3655G>C (p.Gly1219Arg) c.3835G>C (p.Gly1279Arg) c.3502G>C (p.Gly1168Arg) | ClinVar dbSNP |
7 | g.117642465G= | CA1737404743 | CFTR | c.3545G= (p.Arg1182=) c.*3459G= (n.*3459G=) c.3562G= (p.Gly1188=) c.3745G= (p.Gly1249=) c.*398G= (n.*398G=) c.*406G= (n.*406G=) c.*2120G= (n.*2120G=) c.3739G= (p.Gly1247=) c.*3569G= (n.*3569G=) c.3319G= (p.Gly1107=) c.493G= (p.Gly165=) c.1532G= (n.1532G=) c.327G= c.1195G= c.3655G= (p.Gly1219=) c.3835G= (p.Gly1279=) c.3502G= (p.Gly1168=) | |
7 | g.117642465G>T | CA368974520 | CFTR | c.3545G>T (p.Arg1182Met) c.*3459G>T (n.*3459G>T) c.3562G>T (p.Gly1188Trp) c.3745G>T (p.Gly1249Trp) c.*398G>T (n.*398G>T) c.*406G>T (n.*406G>T) c.*2120G>T (n.*2120G>T) c.3739G>T (p.Gly1247Trp) c.*3569G>T (n.*3569G>T) c.3319G>T (p.Gly1107Trp) c.493G>T (p.Gly165Trp) c.1532G>T (n.1532G>T) c.327G>T c.1195G>T c.3655G>T (p.Gly1219Trp) c.3835G>T (p.Gly1279Trp) c.3502G>T (p.Gly1168Trp) | |
7 | g.117642467del | CA276111 | CFTR | c.3547del (p.Glu1183LysfsTer?) c.*3461del (n.*3461del) c.3564del (p.Lys1189ArgfsTer9) c.3747del (p.Lys1250ArgfsTer9) c.*400del (n.*400del) c.*408del (n.*408del) c.*2122del (n.*2122del) c.3741del (p.Lys1248ArgfsTer9) c.*3571del (n.*3571del) c.3321del (p.Lys1108ArgfsTer9) c.495del (p.Lys166ArgfsTer9) c.1534del (n.1534del) c.329del c.1197del c.3657del (p.Lys1220ArgfsTer9) c.3837del (p.Lys1280ArgfsTer9) c.3504del (p.Lys1169ArgfsTer9) | ClinVar dbSNP gnomAD v4 |
7 | g.117642465_117642470delinsC | CA2831039224 | CFTR | c.3545_3550delinsC (p.Arg1182ThrfsTer9) c.*3459_*3464delinsC (n.*3459_*3464delinsC) c.3562_3567delinsC (p.Gly1188GlnfsTer14) c.3745_3750delinsC (p.Gly1249GlnfsTer14) c.*398_*403delinsC (n.*398_*403delinsC) c.*406_*411delinsC (n.*406_*411delinsC) c.*2120_*2125delinsC (n.*2120_*2125delinsC) c.3739_3744delinsC (p.Gly1247GlnfsTer14) c.*3569_*3574delinsC (n.*3569_*3574delinsC) c.3319_3324delinsC (p.Gly1107GlnfsTer14) c.493_498delinsC (p.Gly165GlnfsTer14) c.1532_1537delinsC (n.1532_1537delinsC) c.327_332delinsC c.1195_1200delinsC c.3655_3660delinsC (p.Gly1219GlnfsTer14) c.3835_3840delinsC (p.Gly1279GlnfsTer14) c.3502_3507delinsC (p.Gly1168GlnfsTer14) | |
7 | g.117642466G>A | CA325602 | CFTR | c.3546G>A (p.Arg1182=) c.*3460G>A (n.*3460G>A) c.3563G>A (p.Gly1188Glu) c.3746G>A (p.Gly1249Glu) c.*399G>A (n.*399G>A) c.*407G>A (n.*407G>A) c.*2121G>A (n.*2121G>A) c.3740G>A (p.Gly1247Glu) c.*3570G>A (n.*3570G>A) c.3320G>A (p.Gly1107Glu) c.494G>A (p.Gly165Glu) c.1533G>A (n.1533G>A) c.328G>A c.1196G>A c.3656G>A (p.Gly1219Glu) c.3836G>A (p.Gly1279Glu) c.3503G>A (p.Gly1168Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642466G>C | CA368974523 | CFTR | c.3546G>C (p.Arg1182Ser) c.*3460G>C (n.*3460G>C) c.3563G>C (p.Gly1188Ala) c.3746G>C (p.Gly1249Ala) c.*399G>C (n.*399G>C) c.*407G>C (n.*407G>C) c.*2121G>C (n.*2121G>C) c.3740G>C (p.Gly1247Ala) c.*3570G>C (n.*3570G>C) c.3320G>C (p.Gly1107Ala) c.494G>C (p.Gly165Ala) c.1533G>C (n.1533G>C) c.328G>C c.1196G>C c.3656G>C (p.Gly1219Ala) c.3836G>C (p.Gly1279Ala) c.3503G>C (p.Gly1168Ala) | |
7 | g.117642466G= | CA1737404744 | CFTR | c.3546G= (p.Arg1182=) c.*3460G= (n.*3460G=) c.3563G= (p.Gly1188=) c.3746G= (p.Gly1249=) c.*399G= (n.*399G=) c.*407G= (n.*407G=) c.*2121G= (n.*2121G=) c.3740G= (p.Gly1247=) c.*3570G= (n.*3570G=) c.3320G= (p.Gly1107=) c.494G= (p.Gly165=) c.1533G= (n.1533G=) c.328G= c.1196G= c.3656G= (p.Gly1219=) c.3836G= (p.Gly1279=) c.3503G= (p.Gly1168=) | |
7 | g.117642466G>T | CA368974525 | CFTR | c.3546G>T (p.Arg1182Ser) c.*3460G>T (n.*3460G>T) c.3563G>T (p.Gly1188Val) c.3746G>T (p.Gly1249Val) c.*399G>T (n.*399G>T) c.*407G>T (n.*407G>T) c.*2121G>T (n.*2121G>T) c.3740G>T (p.Gly1247Val) c.*3570G>T (n.*3570G>T) c.3320G>T (p.Gly1107Val) c.494G>T (p.Gly165Val) c.1533G>T (n.1533G>T) c.328G>T c.1196G>T c.3656G>T (p.Gly1219Val) c.3836G>T (p.Gly1279Val) c.3503G>T (p.Gly1168Val) | |
7 | g.117642467G>A | CA242296 | CFTR | c.3547G>A (p.Glu1183Lys) c.*3461G>A (n.*3461G>A) c.3564G>A (p.Gly1188=) c.3747G>A (p.Gly1249=) c.*400G>A (n.*400G>A) c.*408G>A (n.*408G>A) c.*2122G>A (n.*2122G>A) c.3741G>A (p.Gly1247=) c.*3571G>A (n.*3571G>A) c.3321G>A (p.Gly1107=) c.495G>A (p.Gly165=) c.1534G>A (n.1534G>A) c.329G>A c.1197G>A c.3657G>A (p.Gly1219=) c.3837G>A (p.Gly1279=) c.3504G>A (p.Gly1168=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117642467G>C | CA457228074 | CFTR | c.3547G>C (p.Glu1183Gln) c.*3461G>C (n.*3461G>C) c.3564G>C (p.Gly1188=) c.3747G>C (p.Gly1249=) c.*400G>C (n.*400G>C) c.*408G>C (n.*408G>C) c.*2122G>C (n.*2122G>C) c.3741G>C (p.Gly1247=) c.*3571G>C (n.*3571G>C) c.3321G>C (p.Gly1107=) c.495G>C (p.Gly165=) c.1534G>C (n.1534G>C) c.329G>C c.1197G>C c.3657G>C (p.Gly1219=) c.3837G>C (p.Gly1279=) c.3504G>C (p.Gly1168=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642467G= | CA1737404745 | CFTR | c.3547G= (p.Glu1183=) c.*3461G= (n.*3461G=) c.3564G= (p.Gly1188=) c.3747G= (p.Gly1249=) c.*400G= (n.*400G=) c.*408G= (n.*408G=) c.*2122G= (n.*2122G=) c.3741G= (p.Gly1247=) c.*3571G= (n.*3571G=) c.3321G= (p.Gly1107=) c.495G= (p.Gly165=) c.1534G= (n.1534G=) c.329G= c.1197G= c.3657G= (p.Gly1219=) c.3837G= (p.Gly1279=) c.3504G= (p.Gly1168=) | |
7 | g.117642467G>T | CA457228073 | CFTR | c.3547G>T (p.Glu1183Ter) c.*3461G>T (n.*3461G>T) c.3564G>T (p.Gly1188=) c.3747G>T (p.Gly1249=) c.*400G>T (n.*400G>T) c.*408G>T (n.*408G>T) c.*2122G>T (n.*2122G>T) c.3741G>T (p.Gly1247=) c.*3571G>T (n.*3571G>T) c.3321G>T (p.Gly1107=) c.495G>T (p.Gly165=) c.1534G>T (n.1534G>T) c.329G>T c.1197G>T c.3657G>T (p.Gly1219=) c.3837G>T (p.Gly1279=) c.3504G>T (p.Gly1168=) | |
7 | g.117642469_117642471dup | CA915945448 | CFTR | c.3549_3551dup (p.Glu1184_Tyr1185insGlu) c.*3463_*3465dup (n.*3463_*3465dup) c.3566_3568dup (p.Lys1189_Ser1190insLys) c.3749_3751dup (p.Lys1250_Ser1251insLys) c.*402_*404dup (n.*402_*404dup) c.*410_*412dup (n.*410_*412dup) c.*2124_*2126dup (n.*2124_*2126dup) c.3743_3745dup (p.Lys1248_Ser1249insLys) c.*3573_*3575dup (n.*3573_*3575dup) c.3323_3325dup (p.Lys1108_Ser1109insLys) c.497_499dup (p.Lys166_Ser167insLys) c.1536_1538dup (n.1536_1538dup) c.331_333dup c.1199_1201dup c.3659_3661dup (p.Lys1220_Ser1221insLys) c.3839_3841dup (p.Lys1280_Ser1281insLys) c.3506_3508dup (p.Lys1169_Ser1170insLys) | ClinVar dbSNP |
7 | g.117642468A>C | CA368974530 | CFTR | c.3548A>C (p.Glu1183Ala) c.*3462A>C (n.*3462A>C) c.3565A>C (p.Lys1189Gln) c.3748A>C (p.Lys1250Gln) c.*401A>C (n.*401A>C) c.*409A>C (n.*409A>C) c.*2123A>C (n.*2123A>C) c.3742A>C (p.Lys1248Gln) c.*3572A>C (n.*3572A>C) c.3322A>C (p.Lys1108Gln) c.496A>C (p.Lys166Gln) c.1535A>C (n.1535A>C) c.330A>C c.1198A>C c.3658A>C (p.Lys1220Gln) c.3838A>C (p.Lys1280Gln) c.3505A>C (p.Lys1169Gln) | |
7 | g.117642468A>G | CA368974532 | CFTR | c.3548A>G (p.Glu1183Gly) c.*3462A>G (n.*3462A>G) c.3565A>G (p.Lys1189Glu) c.3748A>G (p.Lys1250Glu) c.*401A>G (n.*401A>G) c.*409A>G (n.*409A>G) c.*2123A>G (n.*2123A>G) c.3742A>G (p.Lys1248Glu) c.*3572A>G (n.*3572A>G) c.3322A>G (p.Lys1108Glu) c.496A>G (p.Lys166Glu) c.1535A>G (n.1535A>G) c.330A>G c.1198A>G c.3658A>G (p.Lys1220Glu) c.3838A>G (p.Lys1280Glu) c.3505A>G (p.Lys1169Glu) | |
7 | g.117642468A>T | CA368974533 | CFTR | c.3548A>T (p.Glu1183Val) c.*3462A>T (n.*3462A>T) c.3565A>T (p.Lys1189Ter) c.3748A>T (p.Lys1250Ter) c.*401A>T (n.*401A>T) c.*409A>T (n.*409A>T) c.*2123A>T (n.*2123A>T) c.3742A>T (p.Lys1248Ter) c.*3572A>T (n.*3572A>T) c.3322A>T (p.Lys1108Ter) c.496A>T (p.Lys166Ter) c.1535A>T (n.1535A>T) c.330A>T c.1198A>T c.3658A>T (p.Lys1220Ter) c.3838A>T (p.Lys1280Ter) c.3505A>T (p.Lys1169Ter) | |
7 | g.117642469A>C | CA368974535 | CFTR | c.3549A>C (p.Glu1183Asp) c.*3463A>C (n.*3463A>C) c.3566A>C (p.Lys1189Thr) c.3749A>C (p.Lys1250Thr) c.*402A>C (n.*402A>C) c.*410A>C (n.*410A>C) c.*2124A>C (n.*2124A>C) c.3743A>C (p.Lys1248Thr) c.*3573A>C (n.*3573A>C) c.3323A>C (p.Lys1108Thr) c.497A>C (p.Lys166Thr) c.1536A>C (n.1536A>C) c.331A>C c.1199A>C c.3659A>C (p.Lys1220Thr) c.3839A>C (p.Lys1280Thr) c.3506A>C (p.Lys1169Thr) | |
7 | g.117642469A>G | CA368974537 | CFTR | c.3549A>G (p.Glu1183=) c.*3463A>G (n.*3463A>G) c.3566A>G (p.Lys1189Arg) c.3749A>G (p.Lys1250Arg) c.*402A>G (n.*402A>G) c.*410A>G (n.*410A>G) c.*2124A>G (n.*2124A>G) c.3743A>G (p.Lys1248Arg) c.*3573A>G (n.*3573A>G) c.3323A>G (p.Lys1108Arg) c.497A>G (p.Lys166Arg) c.1536A>G (n.1536A>G) c.331A>G c.1199A>G c.3659A>G (p.Lys1220Arg) c.3839A>G (p.Lys1280Arg) c.3506A>G (p.Lys1169Arg) | |
7 | g.117642469A>T | CA368974539 | CFTR | c.3549A>T (p.Glu1183Asp) c.*3463A>T (n.*3463A>T) c.3566A>T (p.Lys1189Met) c.3749A>T (p.Lys1250Met) c.*402A>T (n.*402A>T) c.*410A>T (n.*410A>T) c.*2124A>T (n.*2124A>T) c.3743A>T (p.Lys1248Met) c.*3573A>T (n.*3573A>T) c.3323A>T (p.Lys1108Met) c.497A>T (p.Lys166Met) c.1536A>T (n.1536A>T) c.331A>T c.1199A>T c.3659A>T (p.Lys1220Met) c.3839A>T (p.Lys1280Met) c.3506A>T (p.Lys1169Met) | |
7 | g.117642470G>A | CA457228075 | CFTR | c.3550G>A (p.Glu1184Lys) c.*3464G>A (n.*3464G>A) c.3567G>A (p.Lys1189=) c.3750G>A (p.Lys1250=) c.*403G>A (n.*403G>A) c.*411G>A (n.*411G>A) c.*2125G>A (n.*2125G>A) c.3744G>A (p.Lys1248=) c.*3574G>A (n.*3574G>A) c.3324G>A (p.Lys1108=) c.498G>A (p.Lys166=) c.1537G>A (n.1537G>A) c.332G>A c.1200G>A c.3660G>A (p.Lys1220=) c.3840G>A (p.Lys1280=) c.3507G>A (p.Lys1169=) | |
7 | g.117642470G>C | CA368974541 | CFTR | c.3550G>C (p.Glu1184Gln) c.*3464G>C (n.*3464G>C) c.3567G>C (p.Lys1189Asn) c.3750G>C (p.Lys1250Asn) c.*403G>C (n.*403G>C) c.*411G>C (n.*411G>C) c.*2125G>C (n.*2125G>C) c.3744G>C (p.Lys1248Asn) c.*3574G>C (n.*3574G>C) c.3324G>C (p.Lys1108Asn) c.498G>C (p.Lys166Asn) c.1537G>C (n.1537G>C) c.332G>C c.1200G>C c.3660G>C (p.Lys1220Asn) c.3840G>C (p.Lys1280Asn) c.3507G>C (p.Lys1169Asn) | |
7 | g.117642470G>T | CA368974543 | CFTR | c.3550G>T (p.Glu1184Ter) c.*3464G>T (n.*3464G>T) c.3567G>T (p.Lys1189Asn) c.3750G>T (p.Lys1250Asn) c.*403G>T (n.*403G>T) c.*411G>T (n.*411G>T) c.*2125G>T (n.*2125G>T) c.3744G>T (p.Lys1248Asn) c.*3574G>T (n.*3574G>T) c.3324G>T (p.Lys1108Asn) c.498G>T (p.Lys166Asn) c.1537G>T (n.1537G>T) c.332G>T c.1200G>T c.3660G>T (p.Lys1220Asn) c.3840G>T (p.Lys1280Asn) c.3507G>T (p.Lys1169Asn) | |
7 | g.117642471A>C | CA368974546 | CFTR | c.3551A>C (p.Glu1184Ala) c.*3465A>C (n.*3465A>C) c.3568A>C (p.Ser1190Arg) c.3751A>C (p.Ser1251Arg) c.*404A>C (n.*404A>C) c.*412A>C (n.*412A>C) c.*2126A>C (n.*2126A>C) c.3745A>C (p.Ser1249Arg) c.*3575A>C (n.*3575A>C) c.3325A>C (p.Ser1109Arg) c.499A>C (p.Ser167Arg) c.1538A>C (n.1538A>C) c.333A>C c.1201A>C c.3661A>C (p.Ser1221Arg) c.3841A>C (p.Ser1281Arg) c.3508A>C (p.Ser1170Arg) | |
7 | g.117642471A>G | CA368974548 | CFTR | c.3551A>G (p.Glu1184Gly) c.*3465A>G (n.*3465A>G) c.3568A>G (p.Ser1190Gly) c.3751A>G (p.Ser1251Gly) c.*404A>G (n.*404A>G) c.*412A>G (n.*412A>G) c.*2126A>G (n.*2126A>G) c.3745A>G (p.Ser1249Gly) c.*3575A>G (n.*3575A>G) c.3325A>G (p.Ser1109Gly) c.499A>G (p.Ser167Gly) c.1538A>G (n.1538A>G) c.333A>G c.1201A>G c.3661A>G (p.Ser1221Gly) c.3841A>G (p.Ser1281Gly) c.3508A>G (p.Ser1170Gly) | gnomAD v4 |
7 | g.117642471A>T | CA368974551 | CFTR | c.3551A>T (p.Glu1184Val) c.*3465A>T (n.*3465A>T) c.3568A>T (p.Ser1190Cys) c.3751A>T (p.Ser1251Cys) c.*404A>T (n.*404A>T) c.*412A>T (n.*412A>T) c.*2126A>T (n.*2126A>T) c.3745A>T (p.Ser1249Cys) c.*3575A>T (n.*3575A>T) c.3325A>T (p.Ser1109Cys) c.499A>T (p.Ser167Cys) c.1538A>T (n.1538A>T) c.333A>T c.1201A>T c.3661A>T (p.Ser1221Cys) c.3841A>T (p.Ser1281Cys) c.3508A>T (p.Ser1170Cys) | |
7 | g.117642472G>A | CA325603 | CFTR | c.3552G>A (p.Glu1184=) c.*3466G>A (n.*3466G>A) c.3569G>A (p.Ser1190Asn) c.3752G>A (p.Ser1251Asn) c.*405G>A (n.*405G>A) c.*413G>A (n.*413G>A) c.*2127G>A (n.*2127G>A) c.3746G>A (p.Ser1249Asn) c.*3576G>A (n.*3576G>A) c.3326G>A (p.Ser1109Asn) c.500G>A (p.Ser167Asn) c.1539G>A (n.1539G>A) c.334G>A c.1202G>A c.3662G>A (p.Ser1221Asn) c.3842G>A (p.Ser1281Asn) c.3509G>A (p.Ser1170Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642472G>C | CA368974569 | CFTR | c.3552G>C (p.Glu1184Asp) c.*3466G>C (n.*3466G>C) c.3569G>C (p.Ser1190Thr) c.3752G>C (p.Ser1251Thr) c.*405G>C (n.*405G>C) c.*413G>C (n.*413G>C) c.*2127G>C (n.*2127G>C) c.3746G>C (p.Ser1249Thr) c.*3576G>C (n.*3576G>C) c.3326G>C (p.Ser1109Thr) c.500G>C (p.Ser167Thr) c.1539G>C (n.1539G>C) c.334G>C c.1202G>C c.3662G>C (p.Ser1221Thr) c.3842G>C (p.Ser1281Thr) c.3509G>C (p.Ser1170Thr) | ClinVar |
7 | g.117642472G= | CA1737404746 | CFTR | c.3552G= (p.Glu1184=) c.*3466G= (n.*3466G=) c.3569G= (p.Ser1190=) c.3752G= (p.Ser1251=) c.*405G= (n.*405G=) c.*413G= (n.*413G=) c.*2127G= (n.*2127G=) c.3746G= (p.Ser1249=) c.*3576G= (n.*3576G=) c.3326G= (p.Ser1109=) c.500G= (p.Ser167=) c.1539G= (n.1539G=) c.334G= c.1202G= c.3662G= (p.Ser1221=) c.3842G= (p.Ser1281=) c.3509G= (p.Ser1170=) | |
7 | g.117642472G>T | CA368974557 | CFTR | c.3552G>T (p.Glu1184Asp) c.*3466G>T (n.*3466G>T) c.3569G>T (p.Ser1190Ile) c.3752G>T (p.Ser1251Ile) c.*405G>T (n.*405G>T) c.*413G>T (n.*413G>T) c.*2127G>T (n.*2127G>T) c.3746G>T (p.Ser1249Ile) c.*3576G>T (n.*3576G>T) c.3326G>T (p.Ser1109Ile) c.500G>T (p.Ser167Ile) c.1539G>T (n.1539G>T) c.334G>T c.1202G>T c.3662G>T (p.Ser1221Ile) c.3842G>T (p.Ser1281Ile) c.3509G>T (p.Ser1170Ile) | |
7 | g.117642473T>A | CA368974577 | CFTR | c.3553T>A (p.Tyr1185Asn) c.*3467T>A (n.*3467T>A) c.3570T>A (p.Ser1190Arg) c.3753T>A (p.Ser1251Arg) c.*406T>A (n.*406T>A) c.*414T>A (n.*414T>A) c.*2128T>A (n.*2128T>A) c.3747T>A (p.Ser1249Arg) c.*3577T>A (n.*3577T>A) c.3327T>A (p.Ser1109Arg) c.501T>A (p.Ser167Arg) c.1540T>A (n.1540T>A) c.335T>A c.1203T>A c.3663T>A (p.Ser1221Arg) c.3843T>A (p.Ser1281Arg) c.3510T>A (p.Ser1170Arg) | |
7 | g.117642473T>C | CA164947522 | CFTR | c.3553T>C (p.Tyr1185His) c.*3467T>C (n.*3467T>C) c.3570T>C (p.Ser1190=) c.3753T>C (p.Ser1251=) c.*406T>C (n.*406T>C) c.*414T>C (n.*414T>C) c.*2128T>C (n.*2128T>C) c.3747T>C (p.Ser1249=) c.*3577T>C (n.*3577T>C) c.3327T>C (p.Ser1109=) c.501T>C (p.Ser167=) c.1540T>C (n.1540T>C) c.335T>C c.1203T>C c.3663T>C (p.Ser1221=) c.3843T>C (p.Ser1281=) c.3510T>C (p.Ser1170=) | dbSNP |
7 | g.117642473T>G | CA368974574 | CFTR | c.3553T>G (p.Tyr1185Asp) c.*3467T>G (n.*3467T>G) c.3570T>G (p.Ser1190Arg) c.3753T>G (p.Ser1251Arg) c.*406T>G (n.*406T>G) c.*414T>G (n.*414T>G) c.*2128T>G (n.*2128T>G) c.3747T>G (p.Ser1249Arg) c.*3577T>G (n.*3577T>G) c.3327T>G (p.Ser1109Arg) c.501T>G (p.Ser167Arg) c.1540T>G (n.1540T>G) c.335T>G c.1203T>G c.3663T>G (p.Ser1221Arg) c.3843T>G (p.Ser1281Arg) c.3510T>G (p.Ser1170Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117642473T= | CA1737404747 | CFTR | c.3553T= (p.Tyr1185=) c.*3467T= (n.*3467T=) c.3570T= (p.Ser1190=) c.3753T= (p.Ser1251=) c.*406T= (n.*406T=) c.*414T= (n.*414T=) c.*2128T= (n.*2128T=) c.3747T= (p.Ser1249=) c.*3577T= (n.*3577T=) c.3327T= (p.Ser1109=) c.501T= (p.Ser167=) c.1540T= (n.1540T=) c.335T= c.1203T= c.3663T= (p.Ser1221=) c.3843T= (p.Ser1281=) c.3510T= (p.Ser1170=) | |
7 | g.117642474A= | CA1737404748 | CFTR | c.3554A= (p.Tyr1185=) c.*3468A= (n.*3468A=) c.3571A= (p.Thr1191=) c.3754A= (p.Thr1252=) c.*407A= (n.*407A=) c.*415A= (n.*415A=) c.*2129A= (n.*2129A=) c.3748A= (p.Thr1250=) c.*3578A= (n.*3578A=) c.3328A= (p.Thr1110=) c.502A= (p.Thr168=) c.1541A= (n.1541A=) c.336A= c.1204A= c.3664A= (p.Thr1222=) c.3844A= (p.Thr1282=) c.3511A= (p.Thr1171=) | |
7 | g.117642474A>C | CA327276 | CFTR | c.3554A>C (p.Tyr1185Ser) c.*3468A>C (n.*3468A>C) c.3571A>C (p.Thr1191Pro) c.3754A>C (p.Thr1252Pro) c.*407A>C (n.*407A>C) c.*415A>C (n.*415A>C) c.*2129A>C (n.*2129A>C) c.3748A>C (p.Thr1250Pro) c.*3578A>C (n.*3578A>C) c.3328A>C (p.Thr1110Pro) c.502A>C (p.Thr168Pro) c.1541A>C (n.1541A>C) c.336A>C c.1204A>C c.3664A>C (p.Thr1222Pro) c.3844A>C (p.Thr1282Pro) c.3511A>C (p.Thr1171Pro) | ClinVar dbSNP |
7 | g.117642474A>G | CA368974582 | CFTR | c.3554A>G (p.Tyr1185Cys) c.*3468A>G (n.*3468A>G) c.3571A>G (p.Thr1191Ala) c.3754A>G (p.Thr1252Ala) c.*407A>G (n.*407A>G) c.*415A>G (n.*415A>G) c.*2129A>G (n.*2129A>G) c.3748A>G (p.Thr1250Ala) c.*3578A>G (n.*3578A>G) c.3328A>G (p.Thr1110Ala) c.502A>G (p.Thr168Ala) c.1541A>G (n.1541A>G) c.336A>G c.1204A>G c.3664A>G (p.Thr1222Ala) c.3844A>G (p.Thr1282Ala) c.3511A>G (p.Thr1171Ala) | |
7 | g.117642474A>T | CA368974585 | CFTR | c.3554A>T (p.Tyr1185Phe) c.*3468A>T (n.*3468A>T) c.3571A>T (p.Thr1191Ser) c.3754A>T (p.Thr1252Ser) c.*407A>T (n.*407A>T) c.*415A>T (n.*415A>T) c.*2129A>T (n.*2129A>T) c.3748A>T (p.Thr1250Ser) c.*3578A>T (n.*3578A>T) c.3328A>T (p.Thr1110Ser) c.502A>T (p.Thr168Ser) c.1541A>T (n.1541A>T) c.336A>T c.1204A>T c.3664A>T (p.Thr1222Ser) c.3844A>T (p.Thr1282Ser) c.3511A>T (p.Thr1171Ser) | |
7 | g.117642474dup | CA2695205218 | CFTR | c.3554dup (p.Tyr1185Ter) c.*3468dup (n.*3468dup) c.3571dup (p.Thr1191AsnfsTer13) c.3754dup (p.Thr1252AsnfsTer13) c.*407dup (n.*407dup) c.*415dup (n.*415dup) c.*2129dup (n.*2129dup) c.3748dup (p.Thr1250AsnfsTer13) c.*3578dup (n.*3578dup) c.3328dup (p.Thr1110AsnfsTer13) c.502dup (p.Thr168AsnfsTer13) c.1541dup (n.1541dup) c.336dup c.1204dup c.3664dup (p.Thr1222AsnfsTer13) c.3844dup (p.Thr1282AsnfsTer13) c.3511dup (p.Thr1171AsnfsTer13) | |
7 | g.117642475C>A | CA368974589 | CFTR | c.3555C>A (p.Tyr1185Ter) c.*3469C>A (n.*3469C>A) c.3572C>A (p.Thr1191Asn) c.3755C>A (p.Thr1252Asn) c.*408C>A (n.*408C>A) c.*416C>A (n.*416C>A) c.*2130C>A (n.*2130C>A) c.3749C>A (p.Thr1250Asn) c.*3579C>A (n.*3579C>A) c.3329C>A (p.Thr1110Asn) c.503C>A (p.Thr168Asn) c.1542C>A (n.1542C>A) c.337C>A c.1205C>A c.3665C>A (p.Thr1222Asn) c.3845C>A (p.Thr1282Asn) c.3512C>A (p.Thr1171Asn) | |
7 | g.117642475C= | CA1737404749 | CFTR | c.3555C= (p.Tyr1185=) c.*3469C= (n.*3469C=) c.3572C= (p.Thr1191=) c.3755C= (p.Thr1252=) c.*408C= (n.*408C=) c.*416C= (n.*416C=) c.*2130C= (n.*2130C=) c.3749C= (p.Thr1250=) c.*3579C= (n.*3579C=) c.3329C= (p.Thr1110=) c.503C= (p.Thr168=) c.1542C= (n.1542C=) c.337C= c.1205C= c.3665C= (p.Thr1222=) c.3845C= (p.Thr1282=) c.3512C= (p.Thr1171=) | |
7 | g.117642475C>G | CA368974591 | CFTR | c.3555C>G (p.Tyr1185Ter) c.*3469C>G (n.*3469C>G) c.3572C>G (p.Thr1191Ser) c.3755C>G (p.Thr1252Ser) c.*408C>G (n.*408C>G) c.*416C>G (n.*416C>G) c.*2130C>G (n.*2130C>G) c.3749C>G (p.Thr1250Ser) c.*3579C>G (n.*3579C>G) c.3329C>G (p.Thr1110Ser) c.503C>G (p.Thr168Ser) c.1542C>G (n.1542C>G) c.337C>G c.1205C>G c.3665C>G (p.Thr1222Ser) c.3845C>G (p.Thr1282Ser) c.3512C>G (p.Thr1171Ser) | |
7 | g.117642475C>T | CA368974595 | CFTR | c.3555C>T (p.Tyr1185=) c.*3469C>T (n.*3469C>T) c.3572C>T (p.Thr1191Ile) c.3755C>T (p.Thr1252Ile) c.*408C>T (n.*408C>T) c.*416C>T (n.*416C>T) c.*2130C>T (n.*2130C>T) c.3749C>T (p.Thr1250Ile) c.*3579C>T (n.*3579C>T) c.3329C>T (p.Thr1110Ile) c.503C>T (p.Thr168Ile) c.1542C>T (n.1542C>T) c.337C>T c.1205C>T c.3665C>T (p.Thr1222Ile) c.3845C>T (p.Thr1282Ile) c.3512C>T (p.Thr1171Ile) | dbSNP |
7 | g.117642476T>A | CA457228076 | CFTR | c.3556T>A (p.Phe1186Ile) c.*3470T>A (n.*3470T>A) c.3573T>A (p.Thr1191=) c.3756T>A (p.Thr1252=) c.*409T>A (n.*409T>A) c.*417T>A (n.*417T>A) c.*2131T>A (n.*2131T>A) c.3750T>A (p.Thr1250=) c.*3580T>A (n.*3580T>A) c.3330T>A (p.Thr1110=) c.504T>A (p.Thr168=) c.1543T>A (n.1543T>A) c.338T>A c.1206T>A c.3666T>A (p.Thr1222=) c.3846T>A (p.Thr1282=) c.3513T>A (p.Thr1171=) | |
7 | g.117642476T>C | CA457228077 | CFTR | c.3556T>C (p.Phe1186Leu) c.*3470T>C (n.*3470T>C) c.3573T>C (p.Thr1191=) c.3756T>C (p.Thr1252=) c.*409T>C (n.*409T>C) c.*417T>C (n.*417T>C) c.*2131T>C (n.*2131T>C) c.3750T>C (p.Thr1250=) c.*3580T>C (n.*3580T>C) c.3330T>C (p.Thr1110=) c.504T>C (p.Thr168=) c.1543T>C (n.1543T>C) c.338T>C c.1206T>C c.3666T>C (p.Thr1222=) c.3846T>C (p.Thr1282=) c.3513T>C (p.Thr1171=) | ClinVar |
7 | g.117642476T>G | CA457228078 | CFTR | c.3556T>G (p.Phe1186Val) c.*3470T>G (n.*3470T>G) c.3573T>G (p.Thr1191=) c.3756T>G (p.Thr1252=) c.*409T>G (n.*409T>G) c.*417T>G (n.*417T>G) c.*2131T>G (n.*2131T>G) c.3750T>G (p.Thr1250=) c.*3580T>G (n.*3580T>G) c.3330T>G (p.Thr1110=) c.504T>G (p.Thr168=) c.1543T>G (n.1543T>G) c.338T>G c.1206T>G c.3666T>G (p.Thr1222=) c.3846T>G (p.Thr1282=) c.3513T>G (p.Thr1171=) | |
7 | g.117642477T>A | CA368974599 | CFTR | c.3557T>A (p.Phe1186Tyr) c.*3471T>A (n.*3471T>A) c.3574T>A (p.Leu1192Met) c.3757T>A (p.Leu1253Met) c.*410T>A (n.*410T>A) c.*418T>A (n.*418T>A) c.*2132T>A (n.*2132T>A) c.3751T>A (p.Leu1251Met) c.*3581T>A (n.*3581T>A) c.3331T>A (p.Leu1111Met) c.505T>A (p.Leu169Met) c.1544T>A (n.1544T>A) c.339T>A c.1207T>A c.3667T>A (p.Leu1223Met) c.3847T>A (p.Leu1283Met) c.3514T>A (p.Leu1172Met) | |
7 | g.117642477T>C | CA164947526 | CFTR | c.3557T>C (p.Phe1186Ser) c.*3471T>C (n.*3471T>C) c.3574T>C (p.Leu1192=) c.3757T>C (p.Leu1253=) c.*410T>C (n.*410T>C) c.*418T>C (n.*418T>C) c.*2132T>C (n.*2132T>C) c.3751T>C (p.Leu1251=) c.*3581T>C (n.*3581T>C) c.3331T>C (p.Leu1111=) c.505T>C (p.Leu169=) c.1544T>C (n.1544T>C) c.339T>C c.1207T>C c.3667T>C (p.Leu1223=) c.3847T>C (p.Leu1283=) c.3514T>C (p.Leu1172=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117642477T>G | CA368974603 | CFTR | c.3557T>G (p.Phe1186Cys) c.*3471T>G (n.*3471T>G) c.3574T>G (p.Leu1192Val) c.3757T>G (p.Leu1253Val) c.*410T>G (n.*410T>G) c.*418T>G (n.*418T>G) c.*2132T>G (n.*2132T>G) c.3751T>G (p.Leu1251Val) c.*3581T>G (n.*3581T>G) c.3331T>G (p.Leu1111Val) c.505T>G (p.Leu169Val) c.1544T>G (n.1544T>G) c.339T>G c.1207T>G c.3667T>G (p.Leu1223Val) c.3847T>G (p.Leu1283Val) c.3514T>G (p.Leu1172Val) | |
7 | g.117642477T= | CA1737404750 | CFTR | c.3557T= (p.Phe1186=) c.*3471T= (n.*3471T=) c.3574T= (p.Leu1192=) c.3757T= (p.Leu1253=) c.*410T= (n.*410T=) c.*418T= (n.*418T=) c.*2132T= (n.*2132T=) c.3751T= (p.Leu1251=) c.*3581T= (n.*3581T=) c.3331T= (p.Leu1111=) c.505T= (p.Leu169=) c.1544T= (n.1544T=) c.339T= c.1207T= c.3667T= (p.Leu1223=) c.3847T= (p.Leu1283=) c.3514T= (p.Leu1172=) | |
7 | g.117642478T>A | CA368974614 | CFTR | c.3558T>A (p.Phe1186Leu) c.*3472T>A (n.*3472T>A) c.3575T>A (p.Leu1192Ter) c.3758T>A (p.Leu1253Ter) c.*411T>A (n.*411T>A) c.*419T>A (n.*419T>A) c.*2133T>A (n.*2133T>A) c.3752T>A (p.Leu1251Ter) c.*3582T>A (n.*3582T>A) c.3332T>A (p.Leu1111Ter) c.506T>A (p.Leu169Ter) c.1545T>A (n.1545T>A) c.340T>A c.1208T>A c.3668T>A (p.Leu1223Ter) c.3848T>A (p.Leu1283Ter) c.3515T>A (p.Leu1172Ter) | |
7 | g.117642478T>C | CA368974610 | CFTR | c.3558T>C (p.Phe1186=) c.*3472T>C (n.*3472T>C) c.3575T>C (p.Leu1192Ser) c.3758T>C (p.Leu1253Ser) c.*411T>C (n.*411T>C) c.*419T>C (n.*419T>C) c.*2133T>C (n.*2133T>C) c.3752T>C (p.Leu1251Ser) c.*3582T>C (n.*3582T>C) c.3332T>C (p.Leu1111Ser) c.506T>C (p.Leu169Ser) c.1545T>C (n.1545T>C) c.340T>C c.1208T>C c.3668T>C (p.Leu1223Ser) c.3848T>C (p.Leu1283Ser) c.3515T>C (p.Leu1172Ser) | COSMIC |
7 | g.117642478T>G | CA368974607 | CFTR | c.3558T>G (p.Phe1186Leu) c.*3472T>G (n.*3472T>G) c.3575T>G (p.Leu1192Trp) c.3758T>G (p.Leu1253Trp) c.*411T>G (n.*411T>G) c.*419T>G (n.*419T>G) c.*2133T>G (n.*2133T>G) c.3752T>G (p.Leu1251Trp) c.*3582T>G (n.*3582T>G) c.3332T>G (p.Leu1111Trp) c.506T>G (p.Leu169Trp) c.1545T>G (n.1545T>G) c.340T>G c.1208T>G c.3668T>G (p.Leu1223Trp) c.3848T>G (p.Leu1283Trp) c.3515T>G (p.Leu1172Trp) | |
7 | g.117642479G>A | CA339250 | CFTR | c.3559G>A (p.Val1187Ile) c.*3473G>A (n.*3473G>A) c.3576G>A (p.Leu1192=) c.3759G>A (p.Leu1253=) c.*412G>A (n.*412G>A) c.*420G>A (n.*420G>A) c.*2134G>A (n.*2134G>A) c.3753G>A (p.Leu1251=) c.*3583G>A (n.*3583G>A) c.3333G>A (p.Leu1111=) c.507G>A (p.Leu169=) c.1546G>A (n.1546G>A) c.341G>A c.1209G>A c.3669G>A (p.Leu1223=) c.3849G>A (p.Leu1283=) c.3516G>A (p.Leu1172=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642479G>C | CA327278 | CFTR | c.3559G>C (p.Val1187Leu) c.*3473G>C (n.*3473G>C) c.3576G>C (p.Leu1192Phe) c.3759G>C (p.Leu1253Phe) c.*412G>C (n.*412G>C) c.*420G>C (n.*420G>C) c.*2134G>C (n.*2134G>C) c.3753G>C (p.Leu1251Phe) c.*3583G>C (n.*3583G>C) c.3333G>C (p.Leu1111Phe) c.507G>C (p.Leu169Phe) c.1546G>C (n.1546G>C) c.341G>C c.1209G>C c.3669G>C (p.Leu1223Phe) c.3849G>C (p.Leu1283Phe) c.3516G>C (p.Leu1172Phe) | dbSNP |
7 | g.117642479G= | CA1737404751 | CFTR | c.3559G= (p.Val1187=) c.*3473G= (n.*3473G=) c.3576G= (p.Leu1192=) c.3759G= (p.Leu1253=) c.*412G= (n.*412G=) c.*420G= (n.*420G=) c.*2134G= (n.*2134G=) c.3753G= (p.Leu1251=) c.*3583G= (n.*3583G=) c.3333G= (p.Leu1111=) c.507G= (p.Leu169=) c.1546G= (n.1546G=) c.341G= c.1209G= c.3669G= (p.Leu1223=) c.3849G= (p.Leu1283=) c.3516G= (p.Leu1172=) | |
7 | g.117642479G>T | CA368974621 | CFTR | c.3559G>T (p.Val1187Phe) c.*3473G>T (n.*3473G>T) c.3576G>T (p.Leu1192Phe) c.3759G>T (p.Leu1253Phe) c.*412G>T (n.*412G>T) c.*420G>T (n.*420G>T) c.*2134G>T (n.*2134G>T) c.3753G>T (p.Leu1251Phe) c.*3583G>T (n.*3583G>T) c.3333G>T (p.Leu1111Phe) c.507G>T (p.Leu169Phe) c.1546G>T (n.1546G>T) c.341G>T c.1209G>T c.3669G>T (p.Leu1223Phe) c.3849G>T (p.Leu1283Phe) c.3516G>T (p.Leu1172Phe) | ClinVar |
7 | g.117642480T>A | CA368974625 | CFTR | c.3560T>A (p.Val1187Asp) c.*3474T>A (n.*3474T>A) c.3577T>A (p.Leu1193Ile) c.3760T>A (p.Leu1254Ile) c.*413T>A (n.*413T>A) c.*421T>A (n.*421T>A) c.*2135T>A (n.*2135T>A) c.3754T>A (p.Leu1252Ile) c.*3584T>A (n.*3584T>A) c.3334T>A (p.Leu1112Ile) c.508T>A (p.Leu170Ile) c.1547T>A (n.1547T>A) c.342T>A c.1210T>A c.3670T>A (p.Leu1224Ile) c.3850T>A (p.Leu1284Ile) c.3517T>A (p.Leu1173Ile) | |
7 | g.117642480T>C | CA457228079 | CFTR | c.3560T>C (p.Val1187Ala) c.*3474T>C (n.*3474T>C) c.3577T>C (p.Leu1193=) c.3760T>C (p.Leu1254=) c.*413T>C (n.*413T>C) c.*421T>C (n.*421T>C) c.*2135T>C (n.*2135T>C) c.3754T>C (p.Leu1252=) c.*3584T>C (n.*3584T>C) c.3334T>C (p.Leu1112=) c.508T>C (p.Leu170=) c.1547T>C (n.1547T>C) c.342T>C c.1210T>C c.3670T>C (p.Leu1224=) c.3850T>C (p.Leu1284=) c.3517T>C (p.Leu1173=) | |
7 | g.117642480T>G | CA368974628 | CFTR | c.3560T>G (p.Val1187Gly) c.*3474T>G (n.*3474T>G) c.3577T>G (p.Leu1193Val) c.3760T>G (p.Leu1254Val) c.*413T>G (n.*413T>G) c.*421T>G (n.*421T>G) c.*2135T>G (n.*2135T>G) c.3754T>G (p.Leu1252Val) c.*3584T>G (n.*3584T>G) c.3334T>G (p.Leu1112Val) c.508T>G (p.Leu170Val) c.1547T>G (n.1547T>G) c.342T>G c.1210T>G c.3670T>G (p.Leu1224Val) c.3850T>G (p.Leu1284Val) c.3517T>G (p.Leu1173Val) | |
7 | g.117642481T>A | CA368974631 | CFTR | c.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) | |
7 | g.117642481T>C | CA368974634 | CFTR | c.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) | |
7 | g.117642481T>G | CA327280 | CFTR | c.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 |
7 | g.117642481T= | CA1737404752 | CFTR | c.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=) | |
7 | g.117642482A= | CA1737404753 | CFTR | c.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=) | |
7 | g.117642482A>C | CA368974641 | CFTR | c.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) | |
7 | g.117642482A>G | CA457228081 | CFTR | c.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 |
7 | g.117642482A>T | CA4451542 | CFTR | c.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 |
7 | g.117642483T>A | CA368974648 | CFTR | c.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 |
7 | g.117642483T>C | CA325580 | CFTR | c.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 |
7 | g.117642483T>G | CA368974659 | CFTR | c.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) | |
7 | g.117642483T= | CA1737404754 | CFTR | c.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=) | |
7 | g.117642484C>A | CA325525 | CFTR | c.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 |
7 | g.117642484C= | CA1737404755 | CFTR | c.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=) | |
7 | g.117642484C>G | CA368974665 | CFTR | c.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 |
7 | g.117642484C>T | CA327282 | CFTR | c.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 |
7 | g.117642485A= | CA1737404756 | CFTR | c.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=) | |
7 | g.117642485A>C | CA457228082 | CFTR | c.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=) | |
7 | g.117642485A>G | CA164947550 | CFTR | c.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=) | ClinVar dbSNP gnomAD v4 |
7 | g.117642485A>T | CA457228083 | CFTR | c.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=) | |
7 | g.117642486G>A | CA368974670 | CFTR | c.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) | |
7 | g.117642486G>C | CA368974676 | CFTR | c.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) | |
7 | g.117642486G= | CA1737404757 | CFTR | c.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=) | |
7 | g.117642486G>T | CA368974678 | CFTR | c.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) | |
7 | g.117642487C>A | CA368974688 | CFTR | c.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) | |
7 | g.117642487C= | CA1737404758 | CFTR | c.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=) | |
7 | g.117642487C>G | CA368974691 | CFTR | c.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 |
7 | g.117642487C>T | CA4451543 | CFTR | c.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 |
7 | g.117642487dup | CA325569 | CFTR | c.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 |
7 | g.117642488T>A | CA457228086 | CFTR | c.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=) | ClinVar dbSNP gnomAD v4 |
7 | g.117642488T>C | CA457228085 | CFTR | c.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=) | |
7 | g.117642488T>G | CA457228084 | CFTR | c.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=) | |
7 | g.117642493dup | CA327288 | CFTR | c.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 |
7 | g.117642489T>A | CA368974704 | CFTR | c.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) | |
7 | g.117642489T>C | CA164947572 | CFTR | c.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 |
7 | g.117642489T>G | CA368974705 | CFTR | c.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) | |
7 | g.117642489T= | CA1737404759 | CFTR | c.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=) | |
7 | g.117642490T>A | CA368974709 | CFTR | c.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) | |
7 | g.117642490T>C | CA368974711 | CFTR | c.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) | |
7 | g.117642490T>G | CA368974706 | CFTR | c.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 |
7 | g.117642491T>A | CA368974714 | CFTR | c.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) | |
7 | g.117642491T>C | CA457228093 | CFTR | c.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=) | |
7 | g.117642491T>G | CA327286 | CFTR | c.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 |
7 | g.117642491T= | CA1737404760 | CFTR | c.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=) | |
7 | g.117642492T>A | CA368974722 | CFTR | c.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) | |
7 | g.117642492T>C | CA164947580 | CFTR | c.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 |
7 | g.117642492T>G | CA368974728 | CFTR | c.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) | |
7 | g.117642492T= | CA1737404761 | CFTR | c.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=) | |
7 | g.117642493T>A | CA368974736 | CFTR | c.3573T>A (p.Phe1191Leu) c.*3487T>A (n.*3487T>A) c.3590T>A (p.Leu1197Ter) c.3773T>A (p.Leu1258Ter) c.*426T>A (n.*426T>A) c.*434T>A (n.*434T>A) c.*2148T>A (n.*2148T>A) c.3767T>A (p.Leu1256Ter) c.*3597T>A (n.*3597T>A) c.3347T>A (p.Leu1116Ter) c.521T>A (p.Leu174Ter) c.1560T>A (n.1560T>A) c.355T>A c.1223T>A c.3683T>A (p.Leu1228Ter) c.3863T>A (p.Leu1288Ter) c.3530T>A (p.Leu1177Ter) | |
7 | g.117642493T>C | CA368974734 | CFTR | c.3573T>C (p.Phe1191=) c.*3487T>C (n.*3487T>C) c.3590T>C (p.Leu1197Ser) c.3773T>C (p.Leu1258Ser) c.*426T>C (n.*426T>C) c.*434T>C (n.*434T>C) c.*2148T>C (n.*2148T>C) c.3767T>C (p.Leu1256Ser) c.*3597T>C (n.*3597T>C) c.3347T>C (p.Leu1116Ser) c.521T>C (p.Leu174Ser) c.1560T>C (n.1560T>C) c.355T>C c.1223T>C c.3683T>C (p.Leu1228Ser) c.3863T>C (p.Leu1288Ser) c.3530T>C (p.Leu1177Ser) | |
7 | g.117642493T>G | CA368974731 | CFTR | c.3573T>G (p.Phe1191Leu) c.*3487T>G (n.*3487T>G) c.3590T>G (p.Leu1197Trp) c.3773T>G (p.Leu1258Trp) c.*426T>G (n.*426T>G) c.*434T>G (n.*434T>G) c.*2148T>G (n.*2148T>G) c.3767T>G (p.Leu1256Trp) c.*3597T>G (n.*3597T>G) c.3347T>G (p.Leu1116Trp) c.521T>G (p.Leu174Trp) c.1560T>G (n.1560T>G) c.355T>G c.1223T>G c.3683T>G (p.Leu1228Trp) c.3863T>G (p.Leu1288Trp) c.3530T>G (p.Leu1177Trp) | gnomAD v4 |
7 | g.117642493T= | CA1737404762 | CFTR | c.3573T= (p.Phe1191=) c.*3487T= (n.*3487T=) c.3590T= (p.Leu1197=) c.3773T= (p.Leu1258=) c.*426T= (n.*426T=) c.*434T= (n.*434T=) c.*2148T= (n.*2148T=) c.3767T= (p.Leu1256=) c.*3597T= (n.*3597T=) c.3347T= (p.Leu1116=) c.521T= (p.Leu174=) c.1560T= (n.1560T=) c.355T= c.1223T= c.3683T= (p.Leu1228=) c.3863T= (p.Leu1288=) c.3530T= (p.Leu1177=) | |
7 | g.117642496_117642504del | CA2684620472 | CFTR | c.3576_3584del (p.Thr1193_Glu1195del) c.*3490_*3498del (n.*3490_*3498del) c.3593_3601del (p.Arg1198_Leu1200del) c.3776_3784del (p.Arg1259_Leu1261del) c.*429_*437del (n.*429_*437del) c.*437_*445del (n.*437_*445del) c.*2151_*2159del (n.*2151_*2159del) c.3770_3778del (p.Arg1257_Leu1259del) c.*3600_*3608del (n.*3600_*3608del) c.3350_3358del (p.Arg1117_Leu1119del) c.524_532del (p.Arg175_Leu177del) c.1563_1571del (n.1563_1571del) c.358_366del c.1226_1234del c.3686_3694del (p.Arg1229_Leu1231del) c.3866_3874del (p.Arg1289_Leu1291del) c.3533_3541del (p.Arg1178_Leu1180del) | gnomAD v4 |
7 | g.117642493_117642494insA | CA368974739 | CFTR | c.3573_3574insA (p.Glu1192ArgfsTer4) c.*3487_*3488insA (n.*3487_*3488insA) c.3590_3591insA (p.Arg1198GlufsTer6) c.3773_3774insA (p.Arg1259GlufsTer6) c.*426_*427insA (n.*426_*427insA) c.*434_*435insA (n.*434_*435insA) c.*2148_*2149insA (n.*2148_*2149insA) c.3767_3768insA (p.Arg1257GlufsTer6) c.*3597_*3598insA (n.*3597_*3598insA) c.3347_3348insA (p.Arg1117GlufsTer6) c.521_522insA (p.Arg175GlufsTer6) c.1560_1561insA (n.1560_1561insA) c.355_356insA c.1223_1224insA c.3683_3684insA (p.Arg1229GlufsTer6) c.3863_3864insA (p.Arg1289GlufsTer6) c.3530_3531insA (p.Arg1178GlufsTer6) | |
7 | g.117642494G>A | CA457228109 | CFTR | c.3574G>A (p.Glu1192Lys) c.*3488G>A (n.*3488G>A) c.3591G>A (p.Leu1197=) c.3774G>A (p.Leu1258=) c.*427G>A (n.*427G>A) c.*435G>A (n.*435G>A) c.*2149G>A (n.*2149G>A) c.3768G>A (p.Leu1256=) c.*3598G>A (n.*3598G>A) c.3348G>A (p.Leu1116=) c.522G>A (p.Leu174=) c.1561G>A (n.1561G>A) c.356G>A c.1224G>A c.3684G>A (p.Leu1228=) c.3864G>A (p.Leu1288=) c.3531G>A (p.Leu1177=) | |
7 | g.117642494G>C | CA368974743 | CFTR | c.3574G>C (p.Glu1192Gln) c.*3488G>C (n.*3488G>C) c.3591G>C (p.Leu1197Phe) c.3774G>C (p.Leu1258Phe) c.*427G>C (n.*427G>C) c.*435G>C (n.*435G>C) c.*2149G>C (n.*2149G>C) c.3768G>C (p.Leu1256Phe) c.*3598G>C (n.*3598G>C) c.3348G>C (p.Leu1116Phe) c.522G>C (p.Leu174Phe) c.1561G>C (n.1561G>C) c.356G>C c.1224G>C c.3684G>C (p.Leu1228Phe) c.3864G>C (p.Leu1288Phe) c.3531G>C (p.Leu1177Phe) | |
7 | g.117642494G>T | CA368974746 | CFTR | c.3574G>T (p.Glu1192Ter) c.*3488G>T (n.*3488G>T) c.3591G>T (p.Leu1197Phe) c.3774G>T (p.Leu1258Phe) c.*427G>T (n.*427G>T) c.*435G>T (n.*435G>T) c.*2149G>T (n.*2149G>T) c.3768G>T (p.Leu1256Phe) c.*3598G>T (n.*3598G>T) c.3348G>T (p.Leu1116Phe) c.522G>T (p.Leu174Phe) c.1561G>T (n.1561G>T) c.356G>T c.1224G>T c.3684G>T (p.Leu1228Phe) c.3864G>T (p.Leu1288Phe) c.3531G>T (p.Leu1177Phe) | |
7 | g.117642494dup | CA327289 | CFTR | c.3574dup (p.Glu1192GlyfsTer4) c.*3488dup (n.*3488dup) c.3591dup (p.Arg1198GlufsTer6) c.3774dup (p.Arg1259GlufsTer6) c.*427dup (n.*427dup) c.*435dup (n.*435dup) c.*2149dup (n.*2149dup) c.3768dup (p.Arg1257GlufsTer6) c.*3598dup (n.*3598dup) c.3348dup (p.Arg1117GlufsTer6) c.522dup (p.Arg175GlufsTer6) c.1561dup (n.1561dup) c.356dup c.1224dup c.3684dup (p.Arg1229GlufsTer6) c.3864dup (p.Arg1289GlufsTer6) c.3531dup (p.Arg1178GlufsTer6) | dbSNP |
7 | g.117642495A>C | CA457228113 | CFTR | c.3575A>C (p.Glu1192Ala) c.*3489A>C (n.*3489A>C) c.3592A>C (p.Arg1198=) c.3775A>C (p.Arg1259=) c.*428A>C (n.*428A>C) c.*436A>C (n.*436A>C) c.*2150A>C (n.*2150A>C) c.3769A>C (p.Arg1257=) c.*3599A>C (n.*3599A>C) c.3349A>C (p.Arg1117=) c.523A>C (p.Arg175=) c.1562A>C (n.1562A>C) c.357A>C c.1225A>C c.3685A>C (p.Arg1229=) c.3865A>C (p.Arg1289=) c.3532A>C (p.Arg1178=) | |
7 | g.117642495A>G | CA368974749 | CFTR | c.3575A>G (p.Glu1192Gly) c.*3489A>G (n.*3489A>G) c.3592A>G (p.Arg1198Gly) c.3775A>G (p.Arg1259Gly) c.*428A>G (n.*428A>G) c.*436A>G (n.*436A>G) c.*2150A>G (n.*2150A>G) c.3769A>G (p.Arg1257Gly) c.*3599A>G (n.*3599A>G) c.3349A>G (p.Arg1117Gly) c.523A>G (p.Arg175Gly) c.1562A>G (n.1562A>G) c.357A>G c.1225A>G c.3685A>G (p.Arg1229Gly) c.3865A>G (p.Arg1289Gly) c.3532A>G (p.Arg1178Gly) | |
7 | g.117642495A>T | CA368974762 | CFTR | c.3575A>T (p.Glu1192Val) c.*3489A>T (n.*3489A>T) c.3592A>T (p.Arg1198Ter) c.3775A>T (p.Arg1259Ter) c.*428A>T (n.*428A>T) c.*436A>T (n.*436A>T) c.*2150A>T (n.*2150A>T) c.3769A>T (p.Arg1257Ter) c.*3599A>T (n.*3599A>T) c.3349A>T (p.Arg1117Ter) c.523A>T (p.Arg175Ter) c.1562A>T (n.1562A>T) c.357A>T c.1225A>T c.3685A>T (p.Arg1229Ter) c.3865A>T (p.Arg1289Ter) c.3532A>T (p.Arg1178Ter) | |
7 | g.117642496G>A | CA368974767 | CFTR | c.3576G>A (p.Glu1192=) c.*3490G>A (n.*3490G>A) c.3593G>A (p.Arg1198Lys) c.3776G>A (p.Arg1259Lys) c.*429G>A (n.*429G>A) c.*437G>A (n.*437G>A) c.*2151G>A (n.*2151G>A) c.3770G>A (p.Arg1257Lys) c.*3600G>A (n.*3600G>A) c.3350G>A (p.Arg1117Lys) c.524G>A (p.Arg175Lys) c.1563G>A (n.1563G>A) c.358G>A c.1226G>A c.3686G>A (p.Arg1229Lys) c.3866G>A (p.Arg1289Lys) c.3533G>A (p.Arg1178Lys) | |
7 | g.117642496G>C | CA368974774 | CFTR | c.3576G>C (p.Glu1192Asp) c.*3490G>C (n.*3490G>C) c.3593G>C (p.Arg1198Thr) c.3776G>C (p.Arg1259Thr) c.*429G>C (n.*429G>C) c.*437G>C (n.*437G>C) c.*2151G>C (n.*2151G>C) c.3770G>C (p.Arg1257Thr) c.*3600G>C (n.*3600G>C) c.3350G>C (p.Arg1117Thr) c.524G>C (p.Arg175Thr) c.1563G>C (n.1563G>C) c.358G>C c.1226G>C c.3686G>C (p.Arg1229Thr) c.3866G>C (p.Arg1289Thr) c.3533G>C (p.Arg1178Thr) | ClinVar dbSNP gnomAD v2 |
7 | g.117642496G= | CA1737404764 | CFTR | c.3576G= (p.Glu1192=) c.*3490G= (n.*3490G=) c.3593G= (p.Arg1198=) c.3776G= (p.Arg1259=) c.*429G= (n.*429G=) c.*437G= (n.*437G=) c.*2151G= (n.*2151G=) c.3770G= (p.Arg1257=) c.*3600G= (n.*3600G=) c.3350G= (p.Arg1117=) c.524G= (p.Arg175=) c.1563G= (n.1563G=) c.358G= c.1226G= c.3686G= (p.Arg1229=) c.3866G= (p.Arg1289=) c.3533G= (p.Arg1178=) | |
7 | g.117642496G>T | CA368974771 | CFTR | c.3576G>T (p.Glu1192Asp) c.*3490G>T (n.*3490G>T) c.3593G>T (p.Arg1198Ile) c.3776G>T (p.Arg1259Ile) c.*429G>T (n.*429G>T) c.*437G>T (n.*437G>T) c.*2151G>T (n.*2151G>T) c.3770G>T (p.Arg1257Ile) c.*3600G>T (n.*3600G>T) c.3350G>T (p.Arg1117Ile) c.524G>T (p.Arg175Ile) c.1563G>T (n.1563G>T) c.358G>T c.1226G>T c.3686G>T (p.Arg1229Ile) c.3866G>T (p.Arg1289Ile) c.3533G>T (p.Arg1178Ile) | |
7 | g.117642496_117642499delinsGACT | CA1737404763 | CFTR | c.3576_3579delinsGACT (p.Glu1192=) c.*3490_*3493delinsGACT (n.*3490_*3493delinsGACT) c.3593_3596delinsGACT (p.Arg1198=) c.3776_3779delinsGACT (p.Arg1259=) c.*429_*432delinsGACT (n.*429_*432delinsGACT) c.*437_*440delinsGACT (n.*437_*440delinsGACT) c.*2151_*2154delinsGACT (n.*2151_*2154delinsGACT) c.3770_3773delinsGACT (p.Arg1257=) c.*3600_*3603delinsGACT (n.*3600_*3603delinsGACT) c.3350_3353delinsGACT (p.Arg1117=) c.524_527delinsGACT (p.Arg175=) c.1563_1566delinsGACT (n.1563_1566delinsGACT) c.358_361delinsGACT c.1226_1229delinsGACT c.3686_3689delinsGACT (p.Arg1229=) c.3866_3869delinsGACT (p.Arg1289=) c.3533_3536delinsGACT (p.Arg1178=) | |
7 | g.117642497A>C | CA368974776 | CFTR | c.3577A>C (p.Thr1193Pro) c.*3491A>C (n.*3491A>C) c.3594A>C (p.Arg1198Ser) c.3777A>C (p.Arg1259Ser) c.*430A>C (n.*430A>C) c.*438A>C (n.*438A>C) c.*2152A>C (n.*2152A>C) c.3771A>C (p.Arg1257Ser) c.*3601A>C (n.*3601A>C) c.3351A>C (p.Arg1117Ser) c.525A>C (p.Arg175Ser) c.1564A>C (n.1564A>C) c.359A>C c.1227A>C c.3687A>C (p.Arg1229Ser) c.3867A>C (p.Arg1289Ser) c.3534A>C (p.Arg1178Ser) | |
7 | g.117642497A>G | CA457228121 | CFTR | c.3577A>G (p.Thr1193Ala) c.*3491A>G (n.*3491A>G) c.3594A>G (p.Arg1198=) c.3777A>G (p.Arg1259=) c.*430A>G (n.*430A>G) c.*438A>G (n.*438A>G) c.*2152A>G (n.*2152A>G) c.3771A>G (p.Arg1257=) c.*3601A>G (n.*3601A>G) c.3351A>G (p.Arg1117=) c.525A>G (p.Arg175=) c.1564A>G (n.1564A>G) c.359A>G c.1227A>G c.3687A>G (p.Arg1229=) c.3867A>G (p.Arg1289=) c.3534A>G (p.Arg1178=) | gnomAD v4 |
7 | g.117642497A>T | CA368974782 | CFTR | c.3577A>T (p.Thr1193Ser) c.*3491A>T (n.*3491A>T) c.3594A>T (p.Arg1198Ser) c.3777A>T (p.Arg1259Ser) c.*430A>T (n.*430A>T) c.*438A>T (n.*438A>T) c.*2152A>T (n.*2152A>T) c.3771A>T (p.Arg1257Ser) c.*3601A>T (n.*3601A>T) c.3351A>T (p.Arg1117Ser) c.525A>T (p.Arg175Ser) c.1564A>T (n.1564A>T) c.359A>T c.1227A>T c.3687A>T (p.Arg1229Ser) c.3867A>T (p.Arg1289Ser) c.3534A>T (p.Arg1178Ser) | |
7 | g.117642500_117642502del | CA327292 | CFTR | c.3580_3582del (p.Thr1194del) c.*3494_*3496del (n.*3494_*3496del) c.3597_3599del (p.Leu1200del) c.3780_3782del (p.Leu1261del) c.*433_*435del (n.*433_*435del) c.*441_*443del (n.*441_*443del) c.*2155_*2157del (n.*2155_*2157del) c.3774_3776del (p.Leu1259del) c.*3604_*3606del (n.*3604_*3606del) c.3354_3356del (p.Leu1119del) c.528_530del (p.Leu177del) c.1567_1569del (n.1567_1569del) c.362_364del c.1230_1232del c.3690_3692del (p.Leu1231del) c.3870_3872del (p.Leu1291del) c.3537_3539del (p.Leu1180del) | ClinVar dbSNP |
7 | g.117642498C>A | CA368974788 | CFTR | c.3578C>A (p.Thr1193Asn) c.*3492C>A (n.*3492C>A) c.3595C>A (p.Leu1199Ile) c.3778C>A (p.Leu1260Ile) c.*431C>A (n.*431C>A) c.*439C>A (n.*439C>A) c.*2153C>A (n.*2153C>A) c.3772C>A (p.Leu1258Ile) c.*3602C>A (n.*3602C>A) c.3352C>A (p.Leu1118Ile) c.526C>A (p.Leu176Ile) c.1565C>A (n.1565C>A) c.360C>A c.1228C>A c.3688C>A (p.Leu1230Ile) c.3868C>A (p.Leu1290Ile) c.3535C>A (p.Leu1179Ile) | |
7 | g.117642498C= | CA1737404765 | CFTR | c.3578C= (p.Thr1193=) c.*3492C= (n.*3492C=) c.3595C= (p.Leu1199=) c.3778C= (p.Leu1260=) c.*431C= (n.*431C=) c.*439C= (n.*439C=) c.*2153C= (n.*2153C=) c.3772C= (p.Leu1258=) c.*3602C= (n.*3602C=) c.3352C= (p.Leu1118=) c.526C= (p.Leu176=) c.1565C= (n.1565C=) c.360C= c.1228C= c.3688C= (p.Leu1230=) c.3868C= (p.Leu1290=) c.3535C= (p.Leu1179=) | |
7 | g.117642498C>G | CA368974787 | CFTR | c.3578C>G (p.Thr1193Ser) c.*3492C>G (n.*3492C>G) c.3595C>G (p.Leu1199Val) c.3778C>G (p.Leu1260Val) c.*431C>G (n.*431C>G) c.*439C>G (n.*439C>G) c.*2153C>G (n.*2153C>G) c.3772C>G (p.Leu1258Val) c.*3602C>G (n.*3602C>G) c.3352C>G (p.Leu1118Val) c.526C>G (p.Leu176Val) c.1565C>G (n.1565C>G) c.360C>G c.1228C>G c.3688C>G (p.Leu1230Val) c.3868C>G (p.Leu1290Val) c.3535C>G (p.Leu1179Val) | dbSNP |
7 | g.117642498C>T | CA457228125 | CFTR | c.3578C>T (p.Thr1193Ile) c.*3492C>T (n.*3492C>T) c.3595C>T (p.Leu1199=) c.3778C>T (p.Leu1260=) c.*431C>T (n.*431C>T) c.*439C>T (n.*439C>T) c.*2153C>T (n.*2153C>T) c.3772C>T (p.Leu1258=) c.*3602C>T (n.*3602C>T) c.3352C>T (p.Leu1118=) c.526C>T (p.Leu176=) c.1565C>T (n.1565C>T) c.360C>T c.1228C>T c.3688C>T (p.Leu1230=) c.3868C>T (p.Leu1290=) c.3535C>T (p.Leu1179=) | |
7 | g.117642499T>A | CA368974803 | CFTR | c.3579T>A (p.Thr1193=) c.*3493T>A (n.*3493T>A) c.3596T>A (p.Leu1199Gln) c.3779T>A (p.Leu1260Gln) c.*432T>A (n.*432T>A) c.*440T>A (n.*440T>A) c.*2154T>A (n.*2154T>A) c.3773T>A (p.Leu1258Gln) c.*3603T>A (n.*3603T>A) c.3353T>A (p.Leu1118Gln) c.527T>A (p.Leu176Gln) c.1566T>A (n.1566T>A) c.361T>A c.1229T>A c.3689T>A (p.Leu1230Gln) c.3869T>A (p.Leu1290Gln) c.3536T>A (p.Leu1179Gln) | |
7 | g.117642499T>C | CA368974798 | CFTR | c.3579T>C (p.Thr1193=) c.*3493T>C (n.*3493T>C) c.3596T>C (p.Leu1199Pro) c.3779T>C (p.Leu1260Pro) c.*432T>C (n.*432T>C) c.*440T>C (n.*440T>C) c.*2154T>C (n.*2154T>C) c.3773T>C (p.Leu1258Pro) c.*3603T>C (n.*3603T>C) c.3353T>C (p.Leu1118Pro) c.527T>C (p.Leu176Pro) c.1566T>C (n.1566T>C) c.361T>C c.1229T>C c.3689T>C (p.Leu1230Pro) c.3869T>C (p.Leu1290Pro) c.3536T>C (p.Leu1179Pro) | ClinVar |
7 | g.117642499T>G | CA368974793 | CFTR | c.3579T>G (p.Thr1193=) c.*3493T>G (n.*3493T>G) c.3596T>G (p.Leu1199Arg) c.3779T>G (p.Leu1260Arg) c.*432T>G (n.*432T>G) c.*440T>G (n.*440T>G) c.*2154T>G (n.*2154T>G) c.3773T>G (p.Leu1258Arg) c.*3603T>G (n.*3603T>G) c.3353T>G (p.Leu1118Arg) c.527T>G (p.Leu176Arg) c.1566T>G (n.1566T>G) c.361T>G c.1229T>G c.3689T>G (p.Leu1230Arg) c.3869T>G (p.Leu1290Arg) c.3536T>G (p.Leu1179Arg) | |
7 | g.117642500A= | CA1737404766 | CFTR | c.3580A= (p.Thr1194=) c.*3494A= (n.*3494A=) c.3597A= (p.Leu1199=) c.3780A= (p.Leu1260=) c.*433A= (n.*433A=) c.*441A= (n.*441A=) c.*2155A= (n.*2155A=) c.3774A= (p.Leu1258=) c.*3604A= (n.*3604A=) c.3354A= (p.Leu1118=) c.528A= (p.Leu176=) c.1567A= (n.1567A=) c.362A= c.1230A= c.3690A= (p.Leu1230=) c.3870A= (p.Leu1290=) c.3537A= (p.Leu1179=) | |
7 | g.117642500A>C | CA457228133 | CFTR | c.3580A>C (p.Thr1194Pro) c.*3494A>C (n.*3494A>C) c.3597A>C (p.Leu1199=) c.3780A>C (p.Leu1260=) c.*433A>C (n.*433A>C) c.*441A>C (n.*441A>C) c.*2155A>C (n.*2155A>C) c.3774A>C (p.Leu1258=) c.*3604A>C (n.*3604A>C) c.3354A>C (p.Leu1118=) c.528A>C (p.Leu176=) c.1567A>C (n.1567A>C) c.362A>C c.1230A>C c.3690A>C (p.Leu1230=) c.3870A>C (p.Leu1290=) c.3537A>C (p.Leu1179=) | ClinVar dbSNP gnomAD v4 |
7 | g.117642500A>G | CA164947584 | CFTR | c.3580A>G (p.Thr1194Ala) c.*3494A>G (n.*3494A>G) c.3597A>G (p.Leu1199=) c.3780A>G (p.Leu1260=) c.*433A>G (n.*433A>G) c.*441A>G (n.*441A>G) c.*2155A>G (n.*2155A>G) c.3774A>G (p.Leu1258=) c.*3604A>G (n.*3604A>G) c.3354A>G (p.Leu1118=) c.528A>G (p.Leu176=) c.1567A>G (n.1567A>G) c.362A>G c.1230A>G c.3690A>G (p.Leu1230=) c.3870A>G (p.Leu1290=) c.3537A>G (p.Leu1179=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642500A>T | CA457228136 | CFTR | c.3580A>T (p.Thr1194Ser) c.*3494A>T (n.*3494A>T) c.3597A>T (p.Leu1199=) c.3780A>T (p.Leu1260=) c.*433A>T (n.*433A>T) c.*441A>T (n.*441A>T) c.*2155A>T (n.*2155A>T) c.3774A>T (p.Leu1258=) c.*3604A>T (n.*3604A>T) c.3354A>T (p.Leu1118=) c.528A>T (p.Leu176=) c.1567A>T (n.1567A>T) c.362A>T c.1230A>T c.3690A>T (p.Leu1230=) c.3870A>T (p.Leu1290=) c.3537A>T (p.Leu1179=) | |
7 | g.117642501C>A | CA368974818 | CFTR | c.3581C>A (p.Thr1194Asn) c.*3495C>A (n.*3495C>A) c.3598C>A (p.Leu1200Met) c.3781C>A (p.Leu1261Met) c.*434C>A (n.*434C>A) c.*442C>A (n.*442C>A) c.*2156C>A (n.*2156C>A) c.3775C>A (p.Leu1259Met) c.*3605C>A (n.*3605C>A) c.3355C>A (p.Leu1119Met) c.529C>A (p.Leu177Met) c.1568C>A (n.1568C>A) c.363C>A c.1231C>A c.3691C>A (p.Leu1231Met) c.3871C>A (p.Leu1291Met) c.3538C>A (p.Leu1180Met) | |
7 | g.117642501C>G | CA368974819 | CFTR | c.3581C>G (p.Thr1194Ser) c.*3495C>G (n.*3495C>G) c.3598C>G (p.Leu1200Val) c.3781C>G (p.Leu1261Val) c.*434C>G (n.*434C>G) c.*442C>G (n.*442C>G) c.*2156C>G (n.*2156C>G) c.3775C>G (p.Leu1259Val) c.*3605C>G (n.*3605C>G) c.3355C>G (p.Leu1119Val) c.529C>G (p.Leu177Val) c.1568C>G (n.1568C>G) c.363C>G c.1231C>G c.3691C>G (p.Leu1231Val) c.3871C>G (p.Leu1291Val) c.3538C>G (p.Leu1180Val) | |
7 | g.117642501C>T | CA457228140 | CFTR | c.3581C>T (p.Thr1194Ile) c.*3495C>T (n.*3495C>T) c.3598C>T (p.Leu1200=) c.3781C>T (p.Leu1261=) c.*434C>T (n.*434C>T) c.*442C>T (n.*442C>T) c.*2156C>T (n.*2156C>T) c.3775C>T (p.Leu1259=) c.*3605C>T (n.*3605C>T) c.3355C>T (p.Leu1119=) c.529C>T (p.Leu177=) c.1568C>T (n.1568C>T) c.363C>T c.1231C>T c.3691C>T (p.Leu1231=) c.3871C>T (p.Leu1291=) c.3538C>T (p.Leu1180=) | |
7 | g.117642502del | CA2831039225 | CFTR | c.3582del (p.Glu1195AsnfsTer?) c.*3496del (n.*3496del) c.3599del (p.Leu1200ArgfsTer17) c.3782del (p.Leu1261ArgfsTer17) c.*435del (n.*435del) c.*443del (n.*443del) c.*2157del (n.*2157del) c.3776del (p.Leu1259ArgfsTer17) c.*3606del (n.*3606del) c.3356del (p.Leu1119ArgfsTer17) c.530del (p.Leu177ArgfsTer17) c.1569del (n.1569del) c.364del c.1232del c.3692del (p.Leu1231ArgfsTer17) c.3872del (p.Leu1291ArgfsTer17) c.3539del (p.Leu1180ArgfsTer17) | |
7 | g.117642502T>A | CA368974822 | CFTR | c.3582T>A (p.Thr1194=) c.*3496T>A (n.*3496T>A) c.3599T>A (p.Leu1200Gln) c.3782T>A (p.Leu1261Gln) c.*435T>A (n.*435T>A) c.*443T>A (n.*443T>A) c.*2157T>A (n.*2157T>A) c.3776T>A (p.Leu1259Gln) c.*3606T>A (n.*3606T>A) c.3356T>A (p.Leu1119Gln) c.530T>A (p.Leu177Gln) c.1569T>A (n.1569T>A) c.364T>A c.1232T>A c.3692T>A (p.Leu1231Gln) c.3872T>A (p.Leu1291Gln) c.3539T>A (p.Leu1180Gln) | |
7 | g.117642502T>C | CA368974830 | CFTR | c.3582T>C (p.Thr1194=) c.*3496T>C (n.*3496T>C) c.3599T>C (p.Leu1200Pro) c.3782T>C (p.Leu1261Pro) c.*435T>C (n.*435T>C) c.*443T>C (n.*443T>C) c.*2157T>C (n.*2157T>C) c.3776T>C (p.Leu1259Pro) c.*3606T>C (n.*3606T>C) c.3356T>C (p.Leu1119Pro) c.530T>C (p.Leu177Pro) c.1569T>C (n.1569T>C) c.364T>C c.1232T>C c.3692T>C (p.Leu1231Pro) c.3872T>C (p.Leu1291Pro) c.3539T>C (p.Leu1180Pro) | |
7 | g.117642502T>G | CA368974826 | CFTR | c.3582T>G (p.Thr1194=) c.*3496T>G (n.*3496T>G) c.3599T>G (p.Leu1200Arg) c.3782T>G (p.Leu1261Arg) c.*435T>G (n.*435T>G) c.*443T>G (n.*443T>G) c.*2157T>G (n.*2157T>G) c.3776T>G (p.Leu1259Arg) c.*3606T>G (n.*3606T>G) c.3356T>G (p.Leu1119Arg) c.530T>G (p.Leu177Arg) c.1569T>G (n.1569T>G) c.364T>G c.1232T>G c.3692T>G (p.Leu1231Arg) c.3872T>G (p.Leu1291Arg) c.3539T>G (p.Leu1180Arg) | ClinVar |
7 | g.117642502_117642503del | CA2580076346 | CFTR | c.3582_3583del (p.Glu1195ThrfsTer16) c.*3496_*3497del (n.*3496_*3497del) c.3599_3600del (p.Leu1200GlnfsTer3) c.3782_3783del (p.Leu1261GlnfsTer3) c.*435_*436del (n.*435_*436del) c.*443_*444del (n.*443_*444del) c.*2157_*2158del (n.*2157_*2158del) c.3776_3777del (p.Leu1259GlnfsTer3) c.*3606_*3607del (n.*3606_*3607del) c.3356_3357del (p.Leu1119GlnfsTer3) c.530_531del (p.Leu177GlnfsTer3) c.1569_1570del (n.1569_1570del) c.364_365del c.1232_1233del c.3692_3693del (p.Leu1231GlnfsTer3) c.3872_3873del (p.Leu1291GlnfsTer3) c.3539_3540del (p.Leu1180GlnfsTer3) | ClinVar |
7 | g.117642503G>A | CA457228146 | CFTR | c.3583G>A (p.Glu1195Lys) c.*3497G>A (n.*3497G>A) c.3600G>A (p.Leu1200=) c.3783G>A (p.Leu1261=) c.*436G>A (n.*436G>A) c.*444G>A (n.*444G>A) c.*2158G>A (n.*2158G>A) c.3777G>A (p.Leu1259=) c.*3607G>A (n.*3607G>A) c.3357G>A (p.Leu1119=) c.531G>A (p.Leu177=) c.1570G>A (n.1570G>A) c.365G>A c.1233G>A c.3693G>A (p.Leu1231=) c.3873G>A (p.Leu1291=) c.3540G>A (p.Leu1180=) | |
7 | g.117642503G>C | CA457228147 | CFTR | c.3583G>C (p.Glu1195Gln) c.*3497G>C (n.*3497G>C) c.3600G>C (p.Leu1200=) c.3783G>C (p.Leu1261=) c.*436G>C (n.*436G>C) c.*444G>C (n.*444G>C) c.*2158G>C (n.*2158G>C) c.3777G>C (p.Leu1259=) c.*3607G>C (n.*3607G>C) c.3357G>C (p.Leu1119=) c.531G>C (p.Leu177=) c.1570G>C (n.1570G>C) c.365G>C c.1233G>C c.3693G>C (p.Leu1231=) c.3873G>C (p.Leu1291=) c.3540G>C (p.Leu1180=) | ClinVar dbSNP gnomAD v4 |
7 | g.117642503G= | CA1737404767 | CFTR | c.3583G= (p.Glu1195=) c.*3497G= (n.*3497G=) c.3600G= (p.Leu1200=) c.3783G= (p.Leu1261=) c.*436G= (n.*436G=) c.*444G= (n.*444G=) c.*2158G= (n.*2158G=) c.3777G= (p.Leu1259=) c.*3607G= (n.*3607G=) c.3357G= (p.Leu1119=) c.531G= (p.Leu177=) c.1570G= (n.1570G=) c.365G= c.1233G= c.3693G= (p.Leu1231=) c.3873G= (p.Leu1291=) c.3540G= (p.Leu1180=) | |
7 | g.117642503G>T | CA4451544 | CFTR | c.3583G>T (p.Glu1195Ter) c.*3497G>T (n.*3497G>T) c.3600G>T (p.Leu1200=) c.3783G>T (p.Leu1261=) c.*436G>T (n.*436G>T) c.*444G>T (n.*444G>T) c.*2158G>T (n.*2158G>T) c.3777G>T (p.Leu1259=) c.*3607G>T (n.*3607G>T) c.3357G>T (p.Leu1119=) c.531G>T (p.Leu177=) c.1570G>T (n.1570G>T) c.365G>T c.1233G>T c.3693G>T (p.Leu1231=) c.3873G>T (p.Leu1291=) c.3540G>T (p.Leu1180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642504A>C | CA368974843 | CFTR | c.3584A>C (p.Glu1195Ala) c.*3498A>C (n.*3498A>C) c.3601A>C (p.Asn1201His) c.3784A>C (p.Asn1262His) c.*437A>C (n.*437A>C) c.*445A>C (n.*445A>C) c.*2159A>C (n.*2159A>C) c.3778A>C (p.Asn1260His) c.*3608A>C (n.*3608A>C) c.3358A>C (p.Asn1120His) c.532A>C (p.Asn178His) c.1571A>C (n.1571A>C) c.366A>C c.1234A>C c.3694A>C (p.Asn1232His) c.3874A>C (p.Asn1292His) c.3541A>C (p.Asn1181His) | |
7 | g.117642504A>G | CA368974837 | CFTR | c.3584A>G (p.Glu1195Gly) c.*3498A>G (n.*3498A>G) c.3601A>G (p.Asn1201Asp) c.3784A>G (p.Asn1262Asp) c.*437A>G (n.*437A>G) c.*445A>G (n.*445A>G) c.*2159A>G (n.*2159A>G) c.3778A>G (p.Asn1260Asp) c.*3608A>G (n.*3608A>G) c.3358A>G (p.Asn1120Asp) c.532A>G (p.Asn178Asp) c.1571A>G (n.1571A>G) c.366A>G c.1234A>G c.3694A>G (p.Asn1232Asp) c.3874A>G (p.Asn1292Asp) c.3541A>G (p.Asn1181Asp) | |
7 | g.117642504A>T | CA368974847 | CFTR | c.3584A>T (p.Glu1195Val) c.*3498A>T (n.*3498A>T) c.3601A>T (p.Asn1201Tyr) c.3784A>T (p.Asn1262Tyr) c.*437A>T (n.*437A>T) c.*445A>T (n.*445A>T) c.*2159A>T (n.*2159A>T) c.3778A>T (p.Asn1260Tyr) c.*3608A>T (n.*3608A>T) c.3358A>T (p.Asn1120Tyr) c.532A>T (p.Asn178Tyr) c.1571A>T (n.1571A>T) c.366A>T c.1234A>T c.3694A>T (p.Asn1232Tyr) c.3874A>T (p.Asn1292Tyr) c.3541A>T (p.Asn1181Tyr) | |
7 | g.117642505A>C | CA368974848 | CFTR | c.3585A>C (p.Glu1195Asp) c.*3499A>C (n.*3499A>C) c.3602A>C (p.Asn1201Thr) c.3785A>C (p.Asn1262Thr) c.*438A>C (n.*438A>C) c.*446A>C (n.*446A>C) c.*2160A>C (n.*2160A>C) c.3779A>C (p.Asn1260Thr) c.*3609A>C (n.*3609A>C) c.3359A>C (p.Asn1120Thr) c.533A>C (p.Asn178Thr) c.1572A>C (n.1572A>C) c.367A>C c.1235A>C c.3695A>C (p.Asn1232Thr) c.3875A>C (p.Asn1292Thr) c.3542A>C (p.Asn1181Thr) | |
7 | g.117642505A>G | CA368974849 | CFTR | c.3585A>G (p.Glu1195=) c.*3499A>G (n.*3499A>G) c.3602A>G (p.Asn1201Ser) c.3785A>G (p.Asn1262Ser) c.*438A>G (n.*438A>G) c.*446A>G (n.*446A>G) c.*2160A>G (n.*2160A>G) c.3779A>G (p.Asn1260Ser) c.*3609A>G (n.*3609A>G) c.3359A>G (p.Asn1120Ser) c.533A>G (p.Asn178Ser) c.1572A>G (n.1572A>G) c.367A>G c.1235A>G c.3695A>G (p.Asn1232Ser) c.3875A>G (p.Asn1292Ser) c.3542A>G (p.Asn1181Ser) | |
7 | g.117642505A>T | CA368974852 | CFTR | c.3585A>T (p.Glu1195Asp) c.*3499A>T (n.*3499A>T) c.3602A>T (p.Asn1201Ile) c.3785A>T (p.Asn1262Ile) c.*438A>T (n.*438A>T) c.*446A>T (n.*446A>T) c.*2160A>T (n.*2160A>T) c.3779A>T (p.Asn1260Ile) c.*3609A>T (n.*3609A>T) c.3359A>T (p.Asn1120Ile) c.533A>T (p.Asn178Ile) c.1572A>T (n.1572A>T) c.367A>T c.1235A>T c.3695A>T (p.Asn1232Ile) c.3875A>T (p.Asn1292Ile) c.3542A>T (p.Asn1181Ile) | |
7 | g.117642506C>A | CA368974855 | CFTR | c.3586C>A (p.His1196Asn) c.*3500C>A (n.*3500C>A) c.3603C>A (p.Asn1201Lys) c.3786C>A (p.Asn1262Lys) c.*439C>A (n.*439C>A) c.*447C>A (n.*447C>A) c.*2161C>A (n.*2161C>A) c.3780C>A (p.Asn1260Lys) c.*3610C>A (n.*3610C>A) c.3360C>A (p.Asn1120Lys) c.534C>A (p.Asn178Lys) c.1573C>A (n.1573C>A) c.368C>A c.1236C>A c.3696C>A (p.Asn1232Lys) c.3876C>A (p.Asn1292Lys) c.3543C>A (p.Asn1181Lys) | |
7 | g.117642506C>G | CA368974859 | CFTR | c.3586C>G (p.His1196Asp) c.*3500C>G (n.*3500C>G) c.3603C>G (p.Asn1201Lys) c.3786C>G (p.Asn1262Lys) c.*439C>G (n.*439C>G) c.*447C>G (n.*447C>G) c.*2161C>G (n.*2161C>G) c.3780C>G (p.Asn1260Lys) c.*3610C>G (n.*3610C>G) c.3360C>G (p.Asn1120Lys) c.534C>G (p.Asn178Lys) c.1573C>G (n.1573C>G) c.368C>G c.1236C>G c.3696C>G (p.Asn1232Lys) c.3876C>G (p.Asn1292Lys) c.3543C>G (p.Asn1181Lys) | |
7 | g.117642506C>T | CA457228161 | CFTR | c.3586C>T (p.His1196Tyr) c.*3500C>T (n.*3500C>T) c.3603C>T (p.Asn1201=) c.3786C>T (p.Asn1262=) c.*439C>T (n.*439C>T) c.*447C>T (n.*447C>T) c.*2161C>T (n.*2161C>T) c.3780C>T (p.Asn1260=) c.*3610C>T (n.*3610C>T) c.3360C>T (p.Asn1120=) c.534C>T (p.Asn178=) c.1573C>T (n.1573C>T) c.368C>T c.1236C>T c.3696C>T (p.Asn1232=) c.3876C>T (p.Asn1292=) c.3543C>T (p.Asn1181=) | |
7 | g.117642507A= | CA1737404769 | CFTR | c.3587A= (p.His1196=) c.*3501A= (n.*3501A=) c.3604A= (p.Thr1202=) c.3787A= (p.Thr1263=) c.*440A= (n.*440A=) c.*448A= (n.*448A=) c.*2162A= (n.*2162A=) c.3781A= (p.Thr1261=) c.*3611A= (n.*3611A=) c.3361A= (p.Thr1121=) c.535A= (p.Thr179=) c.1574A= (n.1574A=) c.369A= c.1237A= c.3697A= (p.Thr1233=) c.3877A= (p.Thr1293=) c.3544A= (p.Thr1182=) | |
7 | g.117642507A>C | CA368974863 | CFTR | c.3587A>C (p.His1196Pro) c.*3501A>C (n.*3501A>C) c.3604A>C (p.Thr1202Pro) c.3787A>C (p.Thr1263Pro) c.*440A>C (n.*440A>C) c.*448A>C (n.*448A>C) c.*2162A>C (n.*2162A>C) c.3781A>C (p.Thr1261Pro) c.*3611A>C (n.*3611A>C) c.3361A>C (p.Thr1121Pro) c.535A>C (p.Thr179Pro) c.1574A>C (n.1574A>C) c.369A>C c.1237A>C c.3697A>C (p.Thr1233Pro) c.3877A>C (p.Thr1293Pro) c.3544A>C (p.Thr1182Pro) | |
7 | g.117642507A>G | CA368974865 | CFTR | c.3587A>G (p.His1196Arg) c.*3501A>G (n.*3501A>G) c.3604A>G (p.Thr1202Ala) c.3787A>G (p.Thr1263Ala) c.*440A>G (n.*440A>G) c.*448A>G (n.*448A>G) c.*2162A>G (n.*2162A>G) c.3781A>G (p.Thr1261Ala) c.*3611A>G (n.*3611A>G) c.3361A>G (p.Thr1121Ala) c.535A>G (p.Thr179Ala) c.1574A>G (n.1574A>G) c.369A>G c.1237A>G c.3697A>G (p.Thr1233Ala) c.3877A>G (p.Thr1293Ala) c.3544A>G (p.Thr1182Ala) | ClinVar dbSNP |
7 | g.117642507A>T | CA368974868 | CFTR | c.3587A>T (p.His1196Leu) c.*3501A>T (n.*3501A>T) c.3604A>T (p.Thr1202Ser) c.3787A>T (p.Thr1263Ser) c.*440A>T (n.*440A>T) c.*448A>T (n.*448A>T) c.*2162A>T (n.*2162A>T) c.3781A>T (p.Thr1261Ser) c.*3611A>T (n.*3611A>T) c.3361A>T (p.Thr1121Ser) c.535A>T (p.Thr179Ser) c.1574A>T (n.1574A>T) c.369A>T c.1237A>T c.3697A>T (p.Thr1233Ser) c.3877A>T (p.Thr1293Ser) c.3544A>T (p.Thr1182Ser) | |
7 | g.117642507_117642508delinsAC | CA1737404768 | CFTR | c.3587_3588delinsAC (p.His1196=) c.*3501_*3502delinsAC (n.*3501_*3502delinsAC) c.3604_3605delinsAC (p.Thr1202=) c.3787_3788delinsAC (p.Thr1263=) c.*440_*441delinsAC (n.*440_*441delinsAC) c.*448_*449delinsAC (n.*448_*449delinsAC) c.*2162_*2163delinsAC (n.*2162_*2163delinsAC) c.3781_3782delinsAC (p.Thr1261=) c.*3611_*3612delinsAC (n.*3611_*3612delinsAC) c.3361_3362delinsAC (p.Thr1121=) c.535_536delinsAC (p.Thr179=) c.1574_1575delinsAC (n.1574_1575delinsAC) c.369_370delinsAC c.1237_1238delinsAC c.3697_3698delinsAC (p.Thr1233=) c.3877_3878delinsAC (p.Thr1293=) c.3544_3545delinsAC (p.Thr1182=) | |
7 | g.117642508del | CA577224042 | CFTR | c.3588del (p.Ter1197GluextTer?) c.*3502del (n.*3502del) c.3605del (p.Thr1202MetfsTer15) c.3788del (p.Thr1263MetfsTer15) c.*441del (n.*441del) c.*449del (n.*449del) c.*2163del (n.*2163del) c.3782del (p.Thr1261MetfsTer15) c.*3612del (n.*3612del) c.3362del (p.Thr1121MetfsTer15) c.536del (p.Thr179MetfsTer15) c.1575del (n.1575del) c.370del c.1238del c.3698del (p.Thr1233MetfsTer15) c.3878del (p.Thr1293MetfsTer15) c.3545del (p.Thr1182MetfsTer15) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117642508C>A | CA368974876 | CFTR | c.3588C>A (p.His1196Gln) c.*3502C>A (n.*3502C>A) c.3605C>A (p.Thr1202Asn) c.3788C>A (p.Thr1263Asn) c.*441C>A (n.*441C>A) c.*449C>A (n.*449C>A) c.*2163C>A (n.*2163C>A) c.3782C>A (p.Thr1261Asn) c.*3612C>A (n.*3612C>A) c.3362C>A (p.Thr1121Asn) c.536C>A (p.Thr179Asn) c.1575C>A (n.1575C>A) c.370C>A c.1238C>A c.3698C>A (p.Thr1233Asn) c.3878C>A (p.Thr1293Asn) c.3545C>A (p.Thr1182Asn) | |
7 | g.117642508C= | CA1737404770 | CFTR | c.3588C= (p.His1196=) c.*3502C= (n.*3502C=) c.3605C= (p.Thr1202=) c.3788C= (p.Thr1263=) c.*441C= (n.*441C=) c.*449C= (n.*449C=) c.*2163C= (n.*2163C=) c.3782C= (p.Thr1261=) c.*3612C= (n.*3612C=) c.3362C= (p.Thr1121=) c.536C= (p.Thr179=) c.1575C= (n.1575C=) c.370C= c.1238C= c.3698C= (p.Thr1233=) c.3878C= (p.Thr1293=) c.3545C= (p.Thr1182=) | |
7 | g.117642508C>G | CA368974884 | CFTR | c.3588C>G (p.His1196Gln) c.*3502C>G (n.*3502C>G) c.3605C>G (p.Thr1202Ser) c.3788C>G (p.Thr1263Ser) c.*441C>G (n.*441C>G) c.*449C>G (n.*449C>G) c.*2163C>G (n.*2163C>G) c.3782C>G (p.Thr1261Ser) c.*3612C>G (n.*3612C>G) c.3362C>G (p.Thr1121Ser) c.536C>G (p.Thr179Ser) c.1575C>G (n.1575C>G) c.370C>G c.1238C>G c.3698C>G (p.Thr1233Ser) c.3878C>G (p.Thr1293Ser) c.3545C>G (p.Thr1182Ser) | |
7 | g.117642508C>T | CA4451545 | CFTR | c.3588C>T (p.His1196=) c.*3502C>T (n.*3502C>T) c.3605C>T (p.Thr1202Ile) c.3788C>T (p.Thr1263Ile) c.*441C>T (n.*441C>T) c.*449C>T (n.*449C>T) c.*2163C>T (n.*2163C>T) c.3782C>T (p.Thr1261Ile) c.*3612C>T (n.*3612C>T) c.3362C>T (p.Thr1121Ile) c.536C>T (p.Thr179Ile) c.1575C>T (n.1575C>T) c.370C>T c.1238C>T c.3698C>T (p.Thr1233Ile) c.3878C>T (p.Thr1293Ile) c.3545C>T (p.Thr1182Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117642509T>A | CA457228176 | CFTR | c.3589T>A (p.Ter1197Arg) c.*3503T>A (n.*3503T>A) c.3606T>A (p.Thr1202=) c.3789T>A (p.Thr1263=) c.*442T>A (n.*442T>A) c.*450T>A (n.*450T>A) c.*2164T>A (n.*2164T>A) c.3783T>A (p.Thr1261=) c.*3613T>A (n.*3613T>A) c.3363T>A (p.Thr1121=) c.537T>A (p.Thr179=) c.1576T>A (n.1576T>A) c.371T>A c.1239T>A c.3699T>A (p.Thr1233=) c.3879T>A (p.Thr1293=) c.3546T>A (p.Thr1182=) | |
7 | g.117642509T>C | CA4451546 | CFTR | c.3589T>C (p.Ter1197Arg) c.*3503T>C (n.*3503T>C) c.3606T>C (p.Thr1202=) c.3789T>C (p.Thr1263=) c.*442T>C (n.*442T>C) c.*450T>C (n.*450T>C) c.*2164T>C (n.*2164T>C) c.3783T>C (p.Thr1261=) c.*3613T>C (n.*3613T>C) c.3363T>C (p.Thr1121=) c.537T>C (p.Thr179=) c.1576T>C (n.1576T>C) c.371T>C c.1239T>C c.3699T>C (p.Thr1233=) c.3879T>C (p.Thr1293=) c.3546T>C (p.Thr1182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642509T>G | CA457228179 | CFTR | c.3589T>G (p.Ter1197Gly) c.*3503T>G (n.*3503T>G) c.3606T>G (p.Thr1202=) c.3789T>G (p.Thr1263=) c.*442T>G (n.*442T>G) c.*450T>G (n.*450T>G) c.*2164T>G (n.*2164T>G) c.3783T>G (p.Thr1261=) c.*3613T>G (n.*3613T>G) c.3363T>G (p.Thr1121=) c.537T>G (p.Thr179=) c.1576T>G (n.1576T>G) c.371T>G c.1239T>G c.3699T>G (p.Thr1233=) c.3879T>G (p.Thr1293=) c.3546T>G (p.Thr1182=) | |
7 | g.117642509T= | CA1737404771 | CFTR | c.3589T= (p.Ter1197=) c.*3503T= (n.*3503T=) c.3606T= (p.Thr1202=) c.3789T= (p.Thr1263=) c.*442T= (n.*442T=) c.*450T= (n.*450T=) c.*2164T= (n.*2164T=) c.3783T= (p.Thr1261=) c.*3613T= (n.*3613T=) c.3363T= (p.Thr1121=) c.537T= (p.Thr179=) c.1576T= (n.1576T=) c.371T= c.1239T= c.3699T= (p.Thr1233=) c.3879T= (p.Thr1293=) c.3546T= (p.Thr1182=) | |
7 | g.117642510G>A | CA368974900 | CFTR | c.3590G>A (p.Ter1197=) c.*3504G>A (n.*3504G>A) c.3607G>A (p.Glu1203Lys) c.3790G>A (p.Glu1264Lys) c.*443G>A (n.*443G>A) c.*451G>A (n.*451G>A) c.*2165G>A (n.*2165G>A) c.3784G>A (p.Glu1262Lys) c.*3614G>A (n.*3614G>A) c.3364G>A (p.Glu1122Lys) c.538G>A (p.Glu180Lys) c.1577G>A (n.1577G>A) c.372G>A c.1240G>A c.3700G>A (p.Glu1234Lys) c.3880G>A (p.Glu1294Lys) c.3547G>A (p.Glu1183Lys) | |
7 | g.117642510G>C | CA368974904 | CFTR | c.3590G>C (p.Ter1197Ser) c.*3504G>C (n.*3504G>C) c.3607G>C (p.Glu1203Gln) c.3790G>C (p.Glu1264Gln) c.*443G>C (n.*443G>C) c.*451G>C (n.*451G>C) c.*2165G>C (n.*2165G>C) c.3784G>C (p.Glu1262Gln) c.*3614G>C (n.*3614G>C) c.3364G>C (p.Glu1122Gln) c.538G>C (p.Glu180Gln) c.1577G>C (n.1577G>C) c.372G>C c.1240G>C c.3700G>C (p.Glu1234Gln) c.3880G>C (p.Glu1294Gln) c.3547G>C (p.Glu1183Gln) | |
7 | g.117642510G>T | CA368974906 | CFTR | c.3590G>T (p.Ter1197Leu) c.*3504G>T (n.*3504G>T) c.3607G>T (p.Glu1203Ter) c.3790G>T (p.Glu1264Ter) c.*443G>T (n.*443G>T) c.*451G>T (n.*451G>T) c.*2165G>T (n.*2165G>T) c.3784G>T (p.Glu1262Ter) c.*3614G>T (n.*3614G>T) c.3364G>T (p.Glu1122Ter) c.538G>T (p.Glu180Ter) c.1577G>T (n.1577G>T) c.372G>T c.1240G>T c.3700G>T (p.Glu1234Ter) c.3880G>T (p.Glu1294Ter) c.3547G>T (p.Glu1183Ter) | |
7 | g.117642510_117642519delinsC | CA2695205219 | CFTR | c.3590_*8delinsC (n.[c.3590_*8delinsC;Ter1197SerextTer?]) c.*3504_*3513delinsC (n.*3504_*3513delinsC) c.3607_3616delinsC (p.Glu1203_Ile1206delinsLeu) c.3790_3799delinsC (p.Glu1264_Ile1267delinsLeu) c.*443_*452delinsC (n.*443_*452delinsC) c.*451_*460delinsC (n.*451_*460delinsC) c.*2165_*2174delinsC (n.*2165_*2174delinsC) c.3784_3793delinsC (p.Glu1262_Ile1265delinsLeu) c.*3614_*3623delinsC (n.*3614_*3623delinsC) c.3364_3373delinsC (p.Glu1122_Ile1125delinsLeu) c.538_547delinsC (p.Glu180_Ile183delinsLeu) c.1577_1586delinsC (n.1577_1586delinsC) c.372_381delinsC c.1240_1249delinsC c.3700_3709delinsC (p.Glu1234_Ile1237delinsLeu) c.3880_3889delinsC (p.Glu1294_Ile1297delinsLeu) c.3547_3556delinsC (p.Glu1183_Ile1186delinsLeu) | |
7 | g.117642511A= | CA1737404772 | CFTR | c.3591A= (p.Ter1197=) c.*3505A= (n.*3505A=) c.3608A= (p.Glu1203=) c.3791A= (p.Glu1264=) c.*444A= (n.*444A=) c.*452A= (n.*452A=) c.*2166A= (n.*2166A=) c.3785A= (p.Glu1262=) c.*3615A= (n.*3615A=) c.3365A= (p.Glu1122=) c.539A= (p.Glu180=) c.1578A= (n.1578A=) c.373A= c.1241A= c.3701A= (p.Glu1234=) c.3881A= (p.Glu1294=) c.3548A= (p.Glu1183=) | |
7 | g.117642511A>C | CA368974910 | CFTR | c.3591A>C (p.Ter1197Cys) c.*3505A>C (n.*3505A>C) c.3608A>C (p.Glu1203Ala) c.3791A>C (p.Glu1264Ala) c.*444A>C (n.*444A>C) c.*452A>C (n.*452A>C) c.*2166A>C (n.*2166A>C) c.3785A>C (p.Glu1262Ala) c.*3615A>C (n.*3615A>C) c.3365A>C (p.Glu1122Ala) c.539A>C (p.Glu180Ala) c.1578A>C (n.1578A>C) c.373A>C c.1241A>C c.3701A>C (p.Glu1234Ala) c.3881A>C (p.Glu1294Ala) c.3548A>C (p.Glu1183Ala) | |
7 | g.117642511A>G | CA368974921 | CFTR | c.3591A>G (p.Ter1197Trp) c.*3505A>G (n.*3505A>G) c.3608A>G (p.Glu1203Gly) c.3791A>G (p.Glu1264Gly) c.*444A>G (n.*444A>G) c.*452A>G (n.*452A>G) c.*2166A>G (n.*2166A>G) c.3785A>G (p.Glu1262Gly) c.*3615A>G (n.*3615A>G) c.3365A>G (p.Glu1122Gly) c.539A>G (p.Glu180Gly) c.1578A>G (n.1578A>G) c.373A>G c.1241A>G c.3701A>G (p.Glu1234Gly) c.3881A>G (p.Glu1294Gly) c.3548A>G (p.Glu1183Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117642511A>T | CA368974912 | CFTR | c.3591A>T (p.Ter1197Cys) c.*3505A>T (n.*3505A>T) c.3608A>T (p.Glu1203Val) c.3791A>T (p.Glu1264Val) c.*444A>T (n.*444A>T) c.*452A>T (n.*452A>T) c.*2166A>T (n.*2166A>T) c.3785A>T (p.Glu1262Val) c.*3615A>T (n.*3615A>T) c.3365A>T (p.Glu1122Val) c.539A>T (p.Glu180Val) c.1578A>T (n.1578A>T) c.373A>T c.1241A>T c.3701A>T (p.Glu1234Val) c.3881A>T (p.Glu1294Val) c.3548A>T (p.Glu1183Val) | |
7 | g.117642512del | CA2739279629 | CFTR | c.*1del (n.*1del) c.*3506del (n.*3506del) c.3609del (p.Gly1204GlufsTer13) c.3792del (p.Gly1265GlufsTer13) c.*445del (n.*445del) c.*453del (n.*453del) c.*2167del (n.*2167del) c.3786del (p.Gly1263GlufsTer13) c.*3616del (n.*3616del) c.3366del (p.Gly1123GlufsTer13) c.540del (p.Gly181GlufsTer13) c.1579del (n.1579del) c.374del c.1242del c.3702del (p.Gly1235GlufsTer13) c.3882del (p.Gly1295GlufsTer13) c.3549del (p.Gly1184GlufsTer13) | ClinVar |
7 | g.117642512A= | CA1737404773 | CFTR | c.*1A= (n.*1A=) c.*3506A= (n.*3506A=) c.3609A= (p.Glu1203=) c.3792A= (p.Glu1264=) c.*445A= (n.*445A=) c.*453A= (n.*453A=) c.*2167A= (n.*2167A=) c.3786A= (p.Glu1262=) c.*3616A= (n.*3616A=) c.3366A= (p.Glu1122=) c.540A= (p.Glu180=) c.1579A= (n.1579A=) c.374A= c.1242A= c.3702A= (p.Glu1234=) c.3882A= (p.Glu1294=) c.3549A= (p.Glu1183=) | |
7 | g.117642512A>C | CA368974923 | CFTR | c.*1A>C (n.*1A>C) c.*3506A>C (n.*3506A>C) c.3609A>C (p.Glu1203Asp) c.3792A>C (p.Glu1264Asp) c.*445A>C (n.*445A>C) c.*453A>C (n.*453A>C) c.*2167A>C (n.*2167A>C) c.3786A>C (p.Glu1262Asp) c.*3616A>C (n.*3616A>C) c.3366A>C (p.Glu1122Asp) c.540A>C (p.Glu180Asp) c.1579A>C (n.1579A>C) c.374A>C c.1242A>C c.3702A>C (p.Glu1234Asp) c.3882A>C (p.Glu1294Asp) c.3549A>C (p.Glu1183Asp) | |
7 | g.117642512A>G | CA457228188 | CFTR | c.*1A>G (n.*1A>G) c.*3506A>G (n.*3506A>G) c.3609A>G (p.Glu1203=) c.3792A>G (p.Glu1264=) c.*445A>G (n.*445A>G) c.*453A>G (n.*453A>G) c.*2167A>G (n.*2167A>G) c.3786A>G (p.Glu1262=) c.*3616A>G (n.*3616A>G) c.3366A>G (p.Glu1122=) c.540A>G (p.Glu180=) c.1579A>G (n.1579A>G) c.374A>G c.1242A>G c.3702A>G (p.Glu1234=) c.3882A>G (p.Glu1294=) c.3549A>G (p.Glu1183=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642512A>T | CA368974933 | CFTR | c.*1A>T (n.*1A>T) c.*3506A>T (n.*3506A>T) c.3609A>T (p.Glu1203Asp) c.3792A>T (p.Glu1264Asp) c.*445A>T (n.*445A>T) c.*453A>T (n.*453A>T) c.*2167A>T (n.*2167A>T) c.3786A>T (p.Glu1262Asp) c.*3616A>T (n.*3616A>T) c.3366A>T (p.Glu1122Asp) c.540A>T (p.Glu180Asp) c.1579A>T (n.1579A>T) c.374A>T c.1242A>T c.3702A>T (p.Glu1234Asp) c.3882A>T (p.Glu1294Asp) c.3549A>T (p.Glu1183Asp) | |
7 | g.117642513G>A | CA368974938 | CFTR | c.*2G>A (n.*2G>A) c.*3507G>A (n.*3507G>A) c.3610G>A (p.Gly1204Arg) c.3793G>A (p.Gly1265Arg) c.*446G>A (n.*446G>A) c.*454G>A (n.*454G>A) c.*2168G>A (n.*2168G>A) c.3787G>A (p.Gly1263Arg) c.*3617G>A (n.*3617G>A) c.3367G>A (p.Gly1123Arg) c.541G>A (p.Gly181Arg) c.1580G>A (n.1580G>A) c.375G>A c.1243G>A c.3703G>A (p.Gly1235Arg) c.3883G>A (p.Gly1295Arg) c.3550G>A (p.Gly1184Arg) | ClinVar gnomAD v4 |
7 | g.117642513G>C | CA368974958 | CFTR | c.*2G>C (n.*2G>C) c.*3507G>C (n.*3507G>C) c.3610G>C (p.Gly1204Arg) c.3793G>C (p.Gly1265Arg) c.*446G>C (n.*446G>C) c.*454G>C (n.*454G>C) c.*2168G>C (n.*2168G>C) c.3787G>C (p.Gly1263Arg) c.*3617G>C (n.*3617G>C) c.3367G>C (p.Gly1123Arg) c.541G>C (p.Gly181Arg) c.1580G>C (n.1580G>C) c.375G>C c.1243G>C c.3703G>C (p.Gly1235Arg) c.3883G>C (p.Gly1295Arg) c.3550G>C (p.Gly1184Arg) | |
7 | g.117642513G>T | CA368974961 | CFTR | c.*2G>T (n.*2G>T) c.*3507G>T (n.*3507G>T) c.3610G>T (p.Gly1204Ter) c.3793G>T (p.Gly1265Ter) c.*446G>T (n.*446G>T) c.*454G>T (n.*454G>T) c.*2168G>T (n.*2168G>T) c.3787G>T (p.Gly1263Ter) c.*3617G>T (n.*3617G>T) c.3367G>T (p.Gly1123Ter) c.541G>T (p.Gly181Ter) c.1580G>T (n.1580G>T) c.375G>T c.1243G>T c.3703G>T (p.Gly1235Ter) c.3883G>T (p.Gly1295Ter) c.3550G>T (p.Gly1184Ter) | ClinVar |
7 | g.117642514G>A | CA368974973 | CFTR | c.*3G>A (n.*3G>A) c.*3508G>A (n.*3508G>A) c.3611G>A (p.Gly1204Glu) c.3794G>A (p.Gly1265Glu) c.*447G>A (n.*447G>A) c.*455G>A (n.*455G>A) c.*2169G>A (n.*2169G>A) c.3788G>A (p.Gly1263Glu) c.*3618G>A (n.*3618G>A) c.3368G>A (p.Gly1123Glu) c.542G>A (p.Gly181Glu) c.1581G>A (n.1581G>A) c.376G>A c.1244G>A c.3704G>A (p.Gly1235Glu) c.3884G>A (p.Gly1295Glu) c.3551G>A (p.Gly1184Glu) | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.117642514G>C | CA368974977 | CFTR | c.*3G>C (n.*3G>C) c.*3508G>C (n.*3508G>C) c.3611G>C (p.Gly1204Ala) c.3794G>C (p.Gly1265Ala) c.*447G>C (n.*447G>C) c.*455G>C (n.*455G>C) c.*2169G>C (n.*2169G>C) c.3788G>C (p.Gly1263Ala) c.*3618G>C (n.*3618G>C) c.3368G>C (p.Gly1123Ala) c.542G>C (p.Gly181Ala) c.1581G>C (n.1581G>C) c.376G>C c.1244G>C c.3704G>C (p.Gly1235Ala) c.3884G>C (p.Gly1295Ala) c.3551G>C (p.Gly1184Ala) | |
7 | g.117642514G= | CA1737404774 | CFTR | c.*3G= (n.*3G=) c.*3508G= (n.*3508G=) c.3611G= (p.Gly1204=) c.3794G= (p.Gly1265=) c.*447G= (n.*447G=) c.*455G= (n.*455G=) c.*2169G= (n.*2169G=) c.3788G= (p.Gly1263=) c.*3618G= (n.*3618G=) c.3368G= (p.Gly1123=) c.542G= (p.Gly181=) c.1581G= (n.1581G=) c.376G= c.1244G= c.3704G= (p.Gly1235=) c.3884G= (p.Gly1295=) c.3551G= (p.Gly1184=) | |
7 | g.117642514G>T | CA368974979 | CFTR | c.*3G>T (n.*3G>T) c.*3508G>T (n.*3508G>T) c.3611G>T (p.Gly1204Val) c.3794G>T (p.Gly1265Val) c.*447G>T (n.*447G>T) c.*455G>T (n.*455G>T) c.*2169G>T (n.*2169G>T) c.3788G>T (p.Gly1263Val) c.*3618G>T (n.*3618G>T) c.3368G>T (p.Gly1123Val) c.542G>T (p.Gly181Val) c.1581G>T (n.1581G>T) c.376G>T c.1244G>T c.3704G>T (p.Gly1235Val) c.3884G>T (p.Gly1295Val) c.3551G>T (p.Gly1184Val) | ClinVar dbSNP |
7 | g.117642516_117642517dup | CA2695205220 | CFTR | c.*5_*6dup (n.*5_*6dup) c.*3510_*3511dup (n.*3510_*3511dup) c.3613_3614dup (p.Ile1206LysfsTer12) c.3796_3797dup (p.Ile1267LysfsTer12) c.*449_*450dup (n.*449_*450dup) c.*457_*458dup (n.*457_*458dup) c.*2171_*2172dup (n.*2171_*2172dup) c.3790_3791dup (p.Ile1265LysfsTer12) c.*3620_*3621dup (n.*3620_*3621dup) c.3370_3371dup (p.Ile1125LysfsTer12) c.544_545dup (p.Ile183LysfsTer12) c.1583_1584dup (n.1583_1584dup) c.378_379dup c.1246_1247dup c.3706_3707dup (p.Ile1237LysfsTer12) c.3886_3887dup (p.Ile1297LysfsTer12) c.3553_3554dup (p.Ile1186LysfsTer12) | |
7 | g.117642515del | CA2580076354 | CFTR | c.*4del (n.*4del) c.*3509del (n.*3509del) c.3612del (p.Glu1205LysfsTer12) c.3795del (p.Glu1266LysfsTer12) c.*448del (n.*448del) c.*456del (n.*456del) c.*2170del (n.*2170del) c.3789del (p.Glu1264LysfsTer12) c.*3619del (n.*3619del) c.3369del (p.Glu1124LysfsTer12) c.543del (p.Glu182LysfsTer12) c.1582del (n.1582del) c.377del c.1245del c.3705del (p.Glu1236LysfsTer12) c.3885del (p.Glu1296LysfsTer12) c.3552del (p.Glu1185LysfsTer12) | ClinVar |
7 | g.117642515A>C | CA457228204 | CFTR | c.*4A>C (n.*4A>C) c.*3509A>C (n.*3509A>C) c.3612A>C (p.Gly1204=) c.3795A>C (p.Gly1265=) c.*448A>C (n.*448A>C) c.*456A>C (n.*456A>C) c.*2170A>C (n.*2170A>C) c.3789A>C (p.Gly1263=) c.*3619A>C (n.*3619A>C) c.3369A>C (p.Gly1123=) c.543A>C (p.Gly181=) c.1582A>C (n.1582A>C) c.377A>C c.1245A>C c.3705A>C (p.Gly1235=) c.3885A>C (p.Gly1295=) c.3552A>C (p.Gly1184=) | |
7 | g.117642515A>G | CA457228199 | CFTR | c.*4A>G (n.*4A>G) c.*3509A>G (n.*3509A>G) c.3612A>G (p.Gly1204=) c.3795A>G (p.Gly1265=) c.*448A>G (n.*448A>G) c.*456A>G (n.*456A>G) c.*2170A>G (n.*2170A>G) c.3789A>G (p.Gly1263=) c.*3619A>G (n.*3619A>G) c.3369A>G (p.Gly1123=) c.543A>G (p.Gly181=) c.1582A>G (n.1582A>G) c.377A>G c.1245A>G c.3705A>G (p.Gly1235=) c.3885A>G (p.Gly1295=) c.3552A>G (p.Gly1184=) | COSMIC |
7 | g.117642515A>T | CA457228201 | CFTR | c.*4A>T (n.*4A>T) c.*3509A>T (n.*3509A>T) c.3612A>T (p.Gly1204=) c.3795A>T (p.Gly1265=) c.*448A>T (n.*448A>T) c.*456A>T (n.*456A>T) c.*2170A>T (n.*2170A>T) c.3789A>T (p.Gly1263=) c.*3619A>T (n.*3619A>T) c.3369A>T (p.Gly1123=) c.543A>T (p.Gly181=) c.1582A>T (n.1582A>T) c.377A>T c.1245A>T c.3705A>T (p.Gly1235=) c.3885A>T (p.Gly1295=) c.3552A>T (p.Gly1184=) | |
7 | g.117642516G>A | CA368974983 | CFTR | c.*5G>A (n.*5G>A) c.*3510G>A (n.*3510G>A) c.3613G>A (p.Glu1205Lys) c.3796G>A (p.Glu1266Lys) c.*449G>A (n.*449G>A) c.*457G>A (n.*457G>A) c.*2171G>A (n.*2171G>A) c.3790G>A (p.Glu1264Lys) c.*3620G>A (n.*3620G>A) c.3370G>A (p.Glu1124Lys) c.544G>A (p.Glu182Lys) c.1583G>A (n.1583G>A) c.378G>A c.1246G>A c.3706G>A (p.Glu1236Lys) c.3886G>A (p.Glu1296Lys) c.3553G>A (p.Glu1185Lys) | gnomAD v4 |
7 | g.117642516G>C | CA368974985 | CFTR | c.*5G>C (n.*5G>C) c.*3510G>C (n.*3510G>C) c.3613G>C (p.Glu1205Gln) c.3796G>C (p.Glu1266Gln) c.*449G>C (n.*449G>C) c.*457G>C (n.*457G>C) c.*2171G>C (n.*2171G>C) c.3790G>C (p.Glu1264Gln) c.*3620G>C (n.*3620G>C) c.3370G>C (p.Glu1124Gln) c.544G>C (p.Glu182Gln) c.1583G>C (n.1583G>C) c.378G>C c.1246G>C c.3706G>C (p.Glu1236Gln) c.3886G>C (p.Glu1296Gln) c.3553G>C (p.Glu1185Gln) | |
7 | g.117642516G= | CA1737404775 | CFTR | c.*5G= (n.*5G=) c.*3510G= (n.*3510G=) c.3613G= (p.Glu1205=) c.3796G= (p.Glu1266=) c.*449G= (n.*449G=) c.*457G= (n.*457G=) c.*2171G= (n.*2171G=) c.3790G= (p.Glu1264=) c.*3620G= (n.*3620G=) c.3370G= (p.Glu1124=) c.544G= (p.Glu182=) c.1583G= (n.1583G=) c.378G= c.1246G= c.3706G= (p.Glu1236=) c.3886G= (p.Glu1296=) c.3553G= (p.Glu1185=) | |
7 | g.117642516G>T | CA368974987 | CFTR | c.*5G>T (n.*5G>T) c.*3510G>T (n.*3510G>T) c.3613G>T (p.Glu1205Ter) c.3796G>T (p.Glu1266Ter) c.*449G>T (n.*449G>T) c.*457G>T (n.*457G>T) c.*2171G>T (n.*2171G>T) c.3790G>T (p.Glu1264Ter) c.*3620G>T (n.*3620G>T) c.3370G>T (p.Glu1124Ter) c.544G>T (p.Glu182Ter) c.1583G>T (n.1583G>T) c.378G>T c.1246G>T c.3706G>T (p.Glu1236Ter) c.3886G>T (p.Glu1296Ter) c.3553G>T (p.Glu1185Ter) | ClinVar dbSNP |
7 | g.117642517A= | CA1737404776 | CFTR | c.*6A= (n.*6A=) c.*3511A= (n.*3511A=) c.3614A= (p.Glu1205=) c.3797A= (p.Glu1266=) c.*450A= (n.*450A=) c.*458A= (n.*458A=) c.*2172A= (n.*2172A=) c.3791A= (p.Glu1264=) c.*3621A= (n.*3621A=) c.3371A= (p.Glu1124=) c.545A= (p.Glu182=) c.1584A= (n.1584A=) c.379A= c.1247A= c.3707A= (p.Glu1236=) c.3887A= (p.Glu1296=) c.3554A= (p.Glu1185=) | |
7 | g.117642517A>C | CA368974988 | CFTR | c.*6A>C (n.*6A>C) c.*3511A>C (n.*3511A>C) c.3614A>C (p.Glu1205Ala) c.3797A>C (p.Glu1266Ala) c.*450A>C (n.*450A>C) c.*458A>C (n.*458A>C) c.*2172A>C (n.*2172A>C) c.3791A>C (p.Glu1264Ala) c.*3621A>C (n.*3621A>C) c.3371A>C (p.Glu1124Ala) c.545A>C (p.Glu182Ala) c.1584A>C (n.1584A>C) c.379A>C c.1247A>C c.3707A>C (p.Glu1236Ala) c.3887A>C (p.Glu1296Ala) c.3554A>C (p.Glu1185Ala) | |
7 | g.117642517A>G | CA368974992 | CFTR | c.*6A>G (n.*6A>G) c.*3511A>G (n.*3511A>G) c.3614A>G (p.Glu1205Gly) c.3797A>G (p.Glu1266Gly) c.*450A>G (n.*450A>G) c.*458A>G (n.*458A>G) c.*2172A>G (n.*2172A>G) c.3791A>G (p.Glu1264Gly) c.*3621A>G (n.*3621A>G) c.3371A>G (p.Glu1124Gly) c.545A>G (p.Glu182Gly) c.1584A>G (n.1584A>G) c.379A>G c.1247A>G c.3707A>G (p.Glu1236Gly) c.3887A>G (p.Glu1296Gly) c.3554A>G (p.Glu1185Gly) | ClinVar dbSNP |
7 | g.117642517A>T | CA368974990 | CFTR | c.*6A>T (n.*6A>T) c.*3511A>T (n.*3511A>T) c.3614A>T (p.Glu1205Val) c.3797A>T (p.Glu1266Val) c.*450A>T (n.*450A>T) c.*458A>T (n.*458A>T) c.*2172A>T (n.*2172A>T) c.3791A>T (p.Glu1264Val) c.*3621A>T (n.*3621A>T) c.3371A>T (p.Glu1124Val) c.545A>T (p.Glu182Val) c.1584A>T (n.1584A>T) c.379A>T c.1247A>T c.3707A>T (p.Glu1236Val) c.3887A>T (p.Glu1296Val) c.3554A>T (p.Glu1185Val) | |
7 | g.117642518A>C | CA368974996 | CFTR | c.*7A>C (n.*7A>C) c.*3512A>C (n.*3512A>C) c.3615A>C (p.Glu1205Asp) c.3798A>C (p.Glu1266Asp) c.*451A>C (n.*451A>C) c.*459A>C (n.*459A>C) c.*2173A>C (n.*2173A>C) c.3792A>C (p.Glu1264Asp) c.*3622A>C (n.*3622A>C) c.3372A>C (p.Glu1124Asp) c.546A>C (p.Glu182Asp) c.1585A>C (n.1585A>C) c.380A>C c.1248A>C c.3708A>C (p.Glu1236Asp) c.3888A>C (p.Glu1296Asp) c.3555A>C (p.Glu1185Asp) | |
7 | g.117642518A>G | CA457228217 | CFTR | c.*7A>G (n.*7A>G) c.*3512A>G (n.*3512A>G) c.3615A>G (p.Glu1205=) c.3798A>G (p.Glu1266=) c.*451A>G (n.*451A>G) c.*459A>G (n.*459A>G) c.*2173A>G (n.*2173A>G) c.3792A>G (p.Glu1264=) c.*3622A>G (n.*3622A>G) c.3372A>G (p.Glu1124=) c.546A>G (p.Glu182=) c.1585A>G (n.1585A>G) c.380A>G c.1248A>G c.3708A>G (p.Glu1236=) c.3888A>G (p.Glu1296=) c.3555A>G (p.Glu1185=) | ClinVar gnomAD v4 |
7 | g.117642518A>T | CA368974998 | CFTR | c.*7A>T (n.*7A>T) c.*3512A>T (n.*3512A>T) c.3615A>T (p.Glu1205Asp) c.3798A>T (p.Glu1266Asp) c.*451A>T (n.*451A>T) c.*459A>T (n.*459A>T) c.*2173A>T (n.*2173A>T) c.3792A>T (p.Glu1264Asp) c.*3622A>T (n.*3622A>T) c.3372A>T (p.Glu1124Asp) c.546A>T (p.Glu182Asp) c.1585A>T (n.1585A>T) c.380A>T c.1248A>T c.3708A>T (p.Glu1236Asp) c.3888A>T (p.Glu1296Asp) c.3555A>T (p.Glu1185Asp) | |
7 | g.117642519A>C | CA368975001 | CFTR | c.*8A>C (n.*8A>C) c.*3513A>C (n.*3513A>C) c.3616A>C (p.Ile1206Leu) c.3799A>C (p.Ile1267Leu) c.*452A>C (n.*452A>C) c.*460A>C (n.*460A>C) c.*2174A>C (n.*2174A>C) c.3793A>C (p.Ile1265Leu) c.*3623A>C (n.*3623A>C) c.3373A>C (p.Ile1125Leu) c.547A>C (p.Ile183Leu) c.1586A>C (n.1586A>C) c.381A>C c.1249A>C c.3709A>C (p.Ile1237Leu) c.3889A>C (p.Ile1297Leu) c.3556A>C (p.Ile1186Leu) | |
7 | g.117642519A>G | CA368975003 | CFTR | c.*8A>G (n.*8A>G) c.*3513A>G (n.*3513A>G) c.3616A>G (p.Ile1206Val) c.3799A>G (p.Ile1267Val) c.*452A>G (n.*452A>G) c.*460A>G (n.*460A>G) c.*2174A>G (n.*2174A>G) c.3793A>G (p.Ile1265Val) c.*3623A>G (n.*3623A>G) c.3373A>G (p.Ile1125Val) c.547A>G (p.Ile183Val) c.1586A>G (n.1586A>G) c.381A>G c.1249A>G c.3709A>G (p.Ile1237Val) c.3889A>G (p.Ile1297Val) c.3556A>G (p.Ile1186Val) | |
7 | g.117642519A>T | CA368975015 | CFTR | c.*8A>T (n.*8A>T) c.*3513A>T (n.*3513A>T) c.3616A>T (p.Ile1206Phe) c.3799A>T (p.Ile1267Phe) c.*452A>T (n.*452A>T) c.*460A>T (n.*460A>T) c.*2174A>T (n.*2174A>T) c.3793A>T (p.Ile1265Phe) c.*3623A>T (n.*3623A>T) c.3373A>T (p.Ile1125Phe) c.547A>T (p.Ile183Phe) c.1586A>T (n.1586A>T) c.381A>T c.1249A>T c.3709A>T (p.Ile1237Phe) c.3889A>T (p.Ile1297Phe) c.3556A>T (p.Ile1186Phe) | |
7 | g.117642520T>A | CA368975016 | CFTR | c.*9T>A (n.*9T>A) c.*3514T>A (n.*3514T>A) c.3617T>A (p.Ile1206Asn) c.3800T>A (p.Ile1267Asn) c.*453T>A (n.*453T>A) c.*461T>A (n.*461T>A) c.*2175T>A (n.*2175T>A) c.3794T>A (p.Ile1265Asn) c.*3624T>A (n.*3624T>A) c.3374T>A (p.Ile1125Asn) c.548T>A (p.Ile183Asn) c.1587T>A (n.1587T>A) c.382T>A c.1250T>A c.3710T>A (p.Ile1237Asn) c.3890T>A (p.Ile1297Asn) c.3557T>A (p.Ile1186Asn) | ClinVar |
7 | g.117642520T>C | CA368975019 | CFTR | c.*9T>C (n.*9T>C) c.*3514T>C (n.*3514T>C) c.3617T>C (p.Ile1206Thr) c.3800T>C (p.Ile1267Thr) c.*453T>C (n.*453T>C) c.*461T>C (n.*461T>C) c.*2175T>C (n.*2175T>C) c.3794T>C (p.Ile1265Thr) c.*3624T>C (n.*3624T>C) c.3374T>C (p.Ile1125Thr) c.548T>C (p.Ile183Thr) c.1587T>C (n.1587T>C) c.382T>C c.1250T>C c.3710T>C (p.Ile1237Thr) c.3890T>C (p.Ile1297Thr) c.3557T>C (p.Ile1186Thr) | |
7 | g.117642520T>G | CA368975021 | CFTR | c.*9T>G (n.*9T>G) c.*3514T>G (n.*3514T>G) c.3617T>G (p.Ile1206Ser) c.3800T>G (p.Ile1267Ser) c.*453T>G (n.*453T>G) c.*461T>G (n.*461T>G) c.*2175T>G (n.*2175T>G) c.3794T>G (p.Ile1265Ser) c.*3624T>G (n.*3624T>G) c.3374T>G (p.Ile1125Ser) c.548T>G (p.Ile183Ser) c.1587T>G (n.1587T>G) c.382T>G c.1250T>G c.3710T>G (p.Ile1237Ser) c.3890T>G (p.Ile1297Ser) c.3557T>G (p.Ile1186Ser) | |
7 | g.117642521C>A | CA457228226 | CFTR | c.*10C>A (n.*10C>A) c.*3515C>A (n.*3515C>A) c.3618C>A (p.Ile1206=) c.3801C>A (p.Ile1267=) c.*454C>A (n.*454C>A) c.*462C>A (n.*462C>A) c.*2176C>A (n.*2176C>A) c.3795C>A (p.Ile1265=) c.*3625C>A (n.*3625C>A) c.3375C>A (p.Ile1125=) c.549C>A (p.Ile183=) c.1588C>A (n.1588C>A) c.383C>A c.1251C>A c.3711C>A (p.Ile1237=) c.3891C>A (p.Ile1297=) c.3558C>A (p.Ile1186=) | ClinVar |
7 | g.117642521C>G | CA368975024 | CFTR | c.*10C>G (n.*10C>G) c.*3515C>G (n.*3515C>G) c.3618C>G (p.Ile1206Met) c.3801C>G (p.Ile1267Met) c.*454C>G (n.*454C>G) c.*462C>G (n.*462C>G) c.*2176C>G (n.*2176C>G) c.3795C>G (p.Ile1265Met) c.*3625C>G (n.*3625C>G) c.3375C>G (p.Ile1125Met) c.549C>G (p.Ile183Met) c.1588C>G (n.1588C>G) c.383C>G c.1251C>G c.3711C>G (p.Ile1237Met) c.3891C>G (p.Ile1297Met) c.3558C>G (p.Ile1186Met) | |
7 | g.117642521C>T | CA457228229 | CFTR | c.*10C>T (n.*10C>T) c.*3515C>T (n.*3515C>T) c.3618C>T (p.Ile1206=) c.3801C>T (p.Ile1267=) c.*454C>T (n.*454C>T) c.*462C>T (n.*462C>T) c.*2176C>T (n.*2176C>T) c.3795C>T (p.Ile1265=) c.*3625C>T (n.*3625C>T) c.3375C>T (p.Ile1125=) c.549C>T (p.Ile183=) c.1588C>T (n.1588C>T) c.383C>T c.1251C>T c.3711C>T (p.Ile1237=) c.3891C>T (p.Ile1297=) c.3558C>T (p.Ile1186=) | |
7 | g.117642522C>A | CA368975028 | CFTR | c.*11C>A (n.*11C>A) c.*3516C>A (n.*3516C>A) c.3619C>A (p.Gln1207Lys) c.3802C>A (p.Gln1268Lys) c.*455C>A (n.*455C>A) c.*463C>A (n.*463C>A) c.*2177C>A (n.*2177C>A) c.3796C>A (p.Gln1266Lys) c.*3626C>A (n.*3626C>A) c.3376C>A (p.Gln1126Lys) c.550C>A (p.Gln184Lys) c.1589C>A (n.1589C>A) c.384C>A c.1252C>A c.3712C>A (p.Gln1238Lys) c.3892C>A (p.Gln1298Lys) c.3559C>A (p.Gln1187Lys) | |
7 | g.117642522C>G | CA368975030 | CFTR | c.*11C>G (n.*11C>G) c.*3516C>G (n.*3516C>G) c.3619C>G (p.Gln1207Glu) c.3802C>G (p.Gln1268Glu) c.*455C>G (n.*455C>G) c.*463C>G (n.*463C>G) c.*2177C>G (n.*2177C>G) c.3796C>G (p.Gln1266Glu) c.*3626C>G (n.*3626C>G) c.3376C>G (p.Gln1126Glu) c.550C>G (p.Gln184Glu) c.1589C>G (n.1589C>G) c.384C>G c.1252C>G c.3712C>G (p.Gln1238Glu) c.3892C>G (p.Gln1298Glu) c.3559C>G (p.Gln1187Glu) | ClinVar |
7 | g.117642522C>T | CA368975033 | CFTR | c.*11C>T (n.*11C>T) c.*3516C>T (n.*3516C>T) c.3619C>T (p.Gln1207Ter) c.3802C>T (p.Gln1268Ter) c.*455C>T (n.*455C>T) c.*463C>T (n.*463C>T) c.*2177C>T (n.*2177C>T) c.3796C>T (p.Gln1266Ter) c.*3626C>T (n.*3626C>T) c.3376C>T (p.Gln1126Ter) c.550C>T (p.Gln184Ter) c.1589C>T (n.1589C>T) c.384C>T c.1252C>T c.3712C>T (p.Gln1238Ter) c.3892C>T (p.Gln1298Ter) c.3559C>T (p.Gln1187Ter) | |
7 | g.117642523A= | CA1737404777 | CFTR | c.*12A= (n.*12A=) c.*3517A= (n.*3517A=) c.3620A= (p.Gln1207=) c.3803A= (p.Gln1268=) c.*456A= (n.*456A=) c.*464A= (n.*464A=) c.*2178A= (n.*2178A=) c.3797A= (p.Gln1266=) c.*3627A= (n.*3627A=) c.3377A= (p.Gln1126=) c.551A= (p.Gln184=) c.1590A= (n.1590A=) c.385A= c.1253A= c.3713A= (p.Gln1238=) c.3893A= (p.Gln1298=) c.3560A= (p.Gln1187=) | |
7 | g.117642523A>C | CA368975045 | CFTR | c.*12A>C (n.*12A>C) c.*3517A>C (n.*3517A>C) c.3620A>C (p.Gln1207Pro) c.3803A>C (p.Gln1268Pro) c.*456A>C (n.*456A>C) c.*464A>C (n.*464A>C) c.*2178A>C (n.*2178A>C) c.3797A>C (p.Gln1266Pro) c.*3627A>C (n.*3627A>C) c.3377A>C (p.Gln1126Pro) c.551A>C (p.Gln184Pro) c.1590A>C (n.1590A>C) c.385A>C c.1253A>C c.3713A>C (p.Gln1238Pro) c.3893A>C (p.Gln1298Pro) c.3560A>C (p.Gln1187Pro) | |
7 | g.117642523A>G | CA4451547 | CFTR | c.*12A>G (n.*12A>G) c.*3517A>G (n.*3517A>G) c.3620A>G (p.Gln1207Arg) c.3803A>G (p.Gln1268Arg) c.*456A>G (n.*456A>G) c.*464A>G (n.*464A>G) c.*2178A>G (n.*2178A>G) c.3797A>G (p.Gln1266Arg) c.*3627A>G (n.*3627A>G) c.3377A>G (p.Gln1126Arg) c.551A>G (p.Gln184Arg) c.1590A>G (n.1590A>G) c.385A>G c.1253A>G c.3713A>G (p.Gln1238Arg) c.3893A>G (p.Gln1298Arg) c.3560A>G (p.Gln1187Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117642523A>T | CA368975042 | CFTR | c.*12A>T (n.*12A>T) c.*3517A>T (n.*3517A>T) c.3620A>T (p.Gln1207Leu) c.3803A>T (p.Gln1268Leu) c.*456A>T (n.*456A>T) c.*464A>T (n.*464A>T) c.*2178A>T (n.*2178A>T) c.3797A>T (p.Gln1266Leu) c.*3627A>T (n.*3627A>T) c.3377A>T (p.Gln1126Leu) c.551A>T (p.Gln184Leu) c.1590A>T (n.1590A>T) c.385A>T c.1253A>T c.3713A>T (p.Gln1238Leu) c.3893A>T (p.Gln1298Leu) c.3560A>T (p.Gln1187Leu) | |
7 | g.117642524G>A | CA457228238 | CFTR | c.*13G>A (n.*13G>A) c.*3518G>A (n.*3518G>A) c.3621G>A (p.Gln1207=) c.3804G>A (p.Gln1268=) c.*457G>A (n.*457G>A) c.*465G>A (n.*465G>A) c.*2179G>A (n.*2179G>A) c.3798G>A (p.Gln1266=) c.*3628G>A (n.*3628G>A) c.3378G>A (p.Gln1126=) c.552G>A (p.Gln184=) c.1591G>A (n.1591G>A) c.386G>A c.1254G>A c.3714G>A (p.Gln1238=) c.3894G>A (p.Gln1298=) c.3561G>A (p.Gln1187=) | |
7 | g.117642524G>C | CA368975049 | CFTR | c.*13G>C (n.*13G>C) c.*3518G>C (n.*3518G>C) c.3621G>C (p.Gln1207His) c.3804G>C (p.Gln1268His) c.*457G>C (n.*457G>C) c.*465G>C (n.*465G>C) c.*2179G>C (n.*2179G>C) c.3798G>C (p.Gln1266His) c.*3628G>C (n.*3628G>C) c.3378G>C (p.Gln1126His) c.552G>C (p.Gln184His) c.1591G>C (n.1591G>C) c.386G>C c.1254G>C c.3714G>C (p.Gln1238His) c.3894G>C (p.Gln1298His) c.3561G>C (p.Gln1187His) | |
7 | g.117642524G>T | CA368975053 | CFTR | c.*13G>T (n.*13G>T) c.*3518G>T (n.*3518G>T) c.3621G>T (p.Gln1207His) c.3804G>T (p.Gln1268His) c.*457G>T (n.*457G>T) c.*465G>T (n.*465G>T) c.*2179G>T (n.*2179G>T) c.3798G>T (p.Gln1266His) c.*3628G>T (n.*3628G>T) c.3378G>T (p.Gln1126His) c.552G>T (p.Gln184His) c.1591G>T (n.1591G>T) c.386G>T c.1254G>T c.3714G>T (p.Gln1238His) c.3894G>T (p.Gln1298His) c.3561G>T (p.Gln1187His) | |
7 | g.117642525A>C | CA368975056 | CFTR | c.*14A>C (n.*14A>C) c.*3519A>C (n.*3519A>C) c.3622A>C (p.Ile1208Leu) c.3805A>C (p.Ile1269Leu) c.*458A>C (n.*458A>C) c.*466A>C (n.*466A>C) c.*2180A>C (n.*2180A>C) c.3799A>C (p.Ile1267Leu) c.*3629A>C (n.*3629A>C) c.3379A>C (p.Ile1127Leu) c.553A>C (p.Ile185Leu) c.1592A>C (n.1592A>C) c.387A>C c.1255A>C c.3715A>C (p.Ile1239Leu) c.3895A>C (p.Ile1299Leu) c.3562A>C (p.Ile1188Leu) | |
7 | g.117642525A>G | CA368975059 | CFTR | c.*14A>G (n.*14A>G) c.*3519A>G (n.*3519A>G) c.3622A>G (p.Ile1208Val) c.3805A>G (p.Ile1269Val) c.*458A>G (n.*458A>G) c.*466A>G (n.*466A>G) c.*2180A>G (n.*2180A>G) c.3799A>G (p.Ile1267Val) c.*3629A>G (n.*3629A>G) c.3379A>G (p.Ile1127Val) c.553A>G (p.Ile185Val) c.1592A>G (n.1592A>G) c.387A>G c.1255A>G c.3715A>G (p.Ile1239Val) c.3895A>G (p.Ile1299Val) c.3562A>G (p.Ile1188Val) | |
7 | g.117642525A>T | CA368975068 | CFTR | c.*14A>T (n.*14A>T) c.*3519A>T (n.*3519A>T) c.3622A>T (p.Ile1208Phe) c.3805A>T (p.Ile1269Phe) c.*458A>T (n.*458A>T) c.*466A>T (n.*466A>T) c.*2180A>T (n.*2180A>T) c.3799A>T (p.Ile1267Phe) c.*3629A>T (n.*3629A>T) c.3379A>T (p.Ile1127Phe) c.553A>T (p.Ile185Phe) c.1592A>T (n.1592A>T) c.387A>T c.1255A>T c.3715A>T (p.Ile1239Phe) c.3895A>T (p.Ile1299Phe) c.3562A>T (p.Ile1188Phe) | |
7 | g.117642526T>A | CA368975073 | CFTR | c.*15T>A (n.*15T>A) c.*3520T>A (n.*3520T>A) c.3623T>A (p.Ile1208Asn) c.3806T>A (p.Ile1269Asn) c.*459T>A (n.*459T>A) c.*467T>A (n.*467T>A) c.*2181T>A (n.*2181T>A) c.3800T>A (p.Ile1267Asn) c.*3630T>A (n.*3630T>A) c.3380T>A (p.Ile1127Asn) c.554T>A (p.Ile185Asn) c.1593T>A (n.1593T>A) c.388T>A c.1256T>A c.3716T>A (p.Ile1239Asn) c.3896T>A (p.Ile1299Asn) c.3563T>A (p.Ile1188Asn) | ClinVar dbSNP gnomAD v4 |
7 | g.117642526T>C | CA368975076 | CFTR | c.*15T>C (n.*15T>C) c.*3520T>C (n.*3520T>C) c.3623T>C (p.Ile1208Thr) c.3806T>C (p.Ile1269Thr) c.*459T>C (n.*459T>C) c.*467T>C (n.*467T>C) c.*2181T>C (n.*2181T>C) c.3800T>C (p.Ile1267Thr) c.*3630T>C (n.*3630T>C) c.3380T>C (p.Ile1127Thr) c.554T>C (p.Ile185Thr) c.1593T>C (n.1593T>C) c.388T>C c.1256T>C c.3716T>C (p.Ile1239Thr) c.3896T>C (p.Ile1299Thr) c.3563T>C (p.Ile1188Thr) | |
7 | g.117642526T>G | CA368975080 | CFTR | c.*15T>G (n.*15T>G) c.*3520T>G (n.*3520T>G) c.3623T>G (p.Ile1208Ser) c.3806T>G (p.Ile1269Ser) c.*459T>G (n.*459T>G) c.*467T>G (n.*467T>G) c.*2181T>G (n.*2181T>G) c.3800T>G (p.Ile1267Ser) c.*3630T>G (n.*3630T>G) c.3380T>G (p.Ile1127Ser) c.554T>G (p.Ile185Ser) c.1593T>G (n.1593T>G) c.388T>G c.1256T>G c.3716T>G (p.Ile1239Ser) c.3896T>G (p.Ile1299Ser) c.3563T>G (p.Ile1188Ser) | |
7 | g.117642526T= | CA1737404778 | CFTR | c.*15T= (n.*15T=) c.*3520T= (n.*3520T=) c.3623T= (p.Ile1208=) c.3806T= (p.Ile1269=) c.*459T= (n.*459T=) c.*467T= (n.*467T=) c.*2181T= (n.*2181T=) c.3800T= (p.Ile1267=) c.*3630T= (n.*3630T=) c.3380T= (p.Ile1127=) c.554T= (p.Ile185=) c.1593T= (n.1593T=) c.388T= c.1256T= c.3716T= (p.Ile1239=) c.3896T= (p.Ile1299=) c.3563T= (p.Ile1188=) | |
7 | g.117642527C>A | CA457228250 | CFTR | c.*16C>A (n.*16C>A) c.*3521C>A (n.*3521C>A) c.3624C>A (p.Ile1208=) c.3807C>A (p.Ile1269=) c.*460C>A (n.*460C>A) c.*468C>A (n.*468C>A) c.*2182C>A (n.*2182C>A) c.3801C>A (p.Ile1267=) c.*3631C>A (n.*3631C>A) c.3381C>A (p.Ile1127=) c.555C>A (p.Ile185=) c.1594C>A (n.1594C>A) c.389C>A c.1257C>A c.3717C>A (p.Ile1239=) c.3897C>A (p.Ile1299=) c.3564C>A (p.Ile1188=) | |
7 | g.117642527C= | CA1737404779 | CFTR | c.*16C= (n.*16C=) c.*3521C= (n.*3521C=) c.3624C= (p.Ile1208=) c.3807C= (p.Ile1269=) c.*460C= (n.*460C=) c.*468C= (n.*468C=) c.*2182C= (n.*2182C=) c.3801C= (p.Ile1267=) c.*3631C= (n.*3631C=) c.3381C= (p.Ile1127=) c.555C= (p.Ile185=) c.1594C= (n.1594C=) c.389C= c.1257C= c.3717C= (p.Ile1239=) c.3897C= (p.Ile1299=) c.3564C= (p.Ile1188=) | |
7 | g.117642527C>G | CA4451550 | CFTR | c.*16C>G (n.*16C>G) c.*3521C>G (n.*3521C>G) c.3624C>G (p.Ile1208Met) c.3807C>G (p.Ile1269Met) c.*460C>G (n.*460C>G) c.*468C>G (n.*468C>G) c.*2182C>G (n.*2182C>G) c.3801C>G (p.Ile1267Met) c.*3631C>G (n.*3631C>G) c.3381C>G (p.Ile1127Met) c.555C>G (p.Ile185Met) c.1594C>G (n.1594C>G) c.389C>G c.1257C>G c.3717C>G (p.Ile1239Met) c.3897C>G (p.Ile1299Met) c.3564C>G (p.Ile1188Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642527C>T | CA4451548 | CFTR | c.*16C>T (n.*16C>T) c.*3521C>T (n.*3521C>T) c.3624C>T (p.Ile1208=) c.3807C>T (p.Ile1269=) c.*460C>T (n.*460C>T) c.*468C>T (n.*468C>T) c.*2182C>T (n.*2182C>T) c.3801C>T (p.Ile1267=) c.*3631C>T (n.*3631C>T) c.3381C>T (p.Ile1127=) c.555C>T (p.Ile185=) c.1594C>T (n.1594C>T) c.389C>T c.1257C>T c.3717C>T (p.Ile1239=) c.3897C>T (p.Ile1299=) c.3564C>T (p.Ile1188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117642527_117642528delinsCG | CA1737404780 | CFTR | c.*16_*17delinsCG (n.*16_*17delinsCG) c.*3521_*3522delinsCG (n.*3521_*3522delinsCG) c.3624_3625delinsCG (p.Ile1208=) c.3807_3808delinsCG (p.Ile1269=) c.*460_*461delinsCG (n.*460_*461delinsCG) c.*468_*469delinsCG (n.*468_*469delinsCG) c.*2182_*2183delinsCG (n.*2182_*2183delinsCG) c.3801_3802delinsCG (p.Ile1267=) c.*3631_*3632delinsCG (n.*3631_*3632delinsCG) c.3381_3382delinsCG (p.Ile1127=) c.555_556delinsCG (p.Ile185=) c.1594_1595delinsCG (n.1594_1595delinsCG) c.389_390delinsCG c.1257_1258delinsCG c.3717_3718delinsCG (p.Ile1239=) c.3897_3898delinsCG (p.Ile1299=) c.3564_3565delinsCG (p.Ile1188=) | |
7 | g.117642528del | CA4451549 | CFTR | c.*17del (n.*17del) c.*3522del (n.*3522del) c.3625del (p.Asp1209MetfsTer8) c.3808del (p.Asp1270MetfsTer8) c.*461del (n.*461del) c.*469del (n.*469del) c.*2183del (n.*2183del) c.3802del (p.Asp1268MetfsTer8) c.*3632del (n.*3632del) c.3382del (p.Asp1128MetfsTer8) c.556del (p.Asp186MetfsTer8) c.1595del (n.1595del) c.390del c.1258del c.3718del (p.Asp1240MetfsTer8) c.3898del (p.Asp1300MetfsTer8) c.3565del (p.Asp1189MetfsTer8) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117642528G>A | CA254112 | CFTR | c.*17G>A (n.*17G>A) c.*3522G>A (n.*3522G>A) c.3625G>A (p.Asp1209Asn) c.3808G>A (p.Asp1270Asn) c.*461G>A (n.*461G>A) c.*469G>A (n.*469G>A) c.*2183G>A (n.*2183G>A) c.3802G>A (p.Asp1268Asn) c.*3632G>A (n.*3632G>A) c.3382G>A (p.Asp1128Asn) c.556G>A (p.Asp186Asn) c.1595G>A (n.1595G>A) c.390G>A c.1258G>A c.3718G>A (p.Asp1240Asn) c.3898G>A (p.Asp1300Asn) c.3565G>A (p.Asp1189Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642528G>C | CA368975092 | CFTR | c.*17G>C (n.*17G>C) c.*3522G>C (n.*3522G>C) c.3625G>C (p.Asp1209His) c.3808G>C (p.Asp1270His) c.*461G>C (n.*461G>C) c.*469G>C (n.*469G>C) c.*2183G>C (n.*2183G>C) c.3802G>C (p.Asp1268His) c.*3632G>C (n.*3632G>C) c.3382G>C (p.Asp1128His) c.556G>C (p.Asp186His) c.1595G>C (n.1595G>C) c.390G>C c.1258G>C c.3718G>C (p.Asp1240His) c.3898G>C (p.Asp1300His) c.3565G>C (p.Asp1189His) | |
7 | g.117642528G= | CA1737404781 | CFTR | c.*17G= (n.*17G=) c.*3522G= (n.*3522G=) c.3625G= (p.Asp1209=) c.3808G= (p.Asp1270=) c.*461G= (n.*461G=) c.*469G= (n.*469G=) c.*2183G= (n.*2183G=) c.3802G= (p.Asp1268=) c.*3632G= (n.*3632G=) c.3382G= (p.Asp1128=) c.556G= (p.Asp186=) c.1595G= (n.1595G=) c.390G= c.1258G= c.3718G= (p.Asp1240=) c.3898G= (p.Asp1300=) c.3565G= (p.Asp1189=) | |
7 | g.117642528G>T | CA327294 | CFTR | c.*17G>T (n.*17G>T) c.*3522G>T (n.*3522G>T) c.3625G>T (p.Asp1209Tyr) c.3808G>T (p.Asp1270Tyr) c.*461G>T (n.*461G>T) c.*469G>T (n.*469G>T) c.*2183G>T (n.*2183G>T) c.3802G>T (p.Asp1268Tyr) c.*3632G>T (n.*3632G>T) c.3382G>T (p.Asp1128Tyr) c.556G>T (p.Asp186Tyr) c.1595G>T (n.1595G>T) c.390G>T c.1258G>T c.3718G>T (p.Asp1240Tyr) c.3898G>T (p.Asp1300Tyr) c.3565G>T (p.Asp1189Tyr) | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.117642529A= | CA1737404782 | CFTR | c.*18A= (n.*18A=) c.*3523A= (n.*3523A=) c.3626A= (p.Asp1209=) c.3809A= (p.Asp1270=) c.*462A= (n.*462A=) c.*470A= (n.*470A=) c.*2184A= (n.*2184A=) c.3803A= (p.Asp1268=) c.*3633A= (n.*3633A=) c.3383A= (p.Asp1128=) c.557A= (p.Asp186=) c.1596A= (n.1596A=) c.391A= c.1259A= c.3719A= (p.Asp1240=) c.3899A= (p.Asp1300=) c.3566A= (p.Asp1189=) | |
7 | g.117642529A>C | CA368975102 | CFTR | c.*18A>C (n.*18A>C) c.*3523A>C (n.*3523A>C) c.3626A>C (p.Asp1209Ala) c.3809A>C (p.Asp1270Ala) c.*462A>C (n.*462A>C) c.*470A>C (n.*470A>C) c.*2184A>C (n.*2184A>C) c.3803A>C (p.Asp1268Ala) c.*3633A>C (n.*3633A>C) c.3383A>C (p.Asp1128Ala) c.557A>C (p.Asp186Ala) c.1596A>C (n.1596A>C) c.391A>C c.1259A>C c.3719A>C (p.Asp1240Ala) c.3899A>C (p.Asp1300Ala) c.3566A>C (p.Asp1189Ala) | |
7 | g.117642529A>G | CA4451551 | CFTR | c.*18A>G (n.*18A>G) c.*3523A>G (n.*3523A>G) c.3626A>G (p.Asp1209Gly) c.3809A>G (p.Asp1270Gly) c.*462A>G (n.*462A>G) c.*470A>G (n.*470A>G) c.*2184A>G (n.*2184A>G) c.3803A>G (p.Asp1268Gly) c.*3633A>G (n.*3633A>G) c.3383A>G (p.Asp1128Gly) c.557A>G (p.Asp186Gly) c.1596A>G (n.1596A>G) c.391A>G c.1259A>G c.3719A>G (p.Asp1240Gly) c.3899A>G (p.Asp1300Gly) c.3566A>G (p.Asp1189Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642529A>T | CA368975100 | CFTR | c.*18A>T (n.*18A>T) c.*3523A>T (n.*3523A>T) c.3626A>T (p.Asp1209Val) c.3809A>T (p.Asp1270Val) c.*462A>T (n.*462A>T) c.*470A>T (n.*470A>T) c.*2184A>T (n.*2184A>T) c.3803A>T (p.Asp1268Val) c.*3633A>T (n.*3633A>T) c.3383A>T (p.Asp1128Val) c.557A>T (p.Asp186Val) c.1596A>T (n.1596A>T) c.391A>T c.1259A>T c.3719A>T (p.Asp1240Val) c.3899A>T (p.Asp1300Val) c.3566A>T (p.Asp1189Val) | ClinVar |
7 | g.117642530T>A | CA368975105 | CFTR | c.*19T>A (n.*19T>A) c.*3524T>A (n.*3524T>A) c.3627T>A (p.Asp1209Glu) c.3810T>A (p.Asp1270Glu) c.*463T>A (n.*463T>A) c.*471T>A (n.*471T>A) c.*2185T>A (n.*2185T>A) c.3804T>A (p.Asp1268Glu) c.*3634T>A (n.*3634T>A) c.3384T>A (p.Asp1128Glu) c.558T>A (p.Asp186Glu) c.1597T>A (n.1597T>A) c.392T>A c.1260T>A c.3720T>A (p.Asp1240Glu) c.3900T>A (p.Asp1300Glu) c.3567T>A (p.Asp1189Glu) | gnomAD v4 |
7 | g.117642530T>C | CA457228269 | CFTR | c.*19T>C (n.*19T>C) c.*3524T>C (n.*3524T>C) c.3627T>C (p.Asp1209=) c.3810T>C (p.Asp1270=) c.*463T>C (n.*463T>C) c.*471T>C (n.*471T>C) c.*2185T>C (n.*2185T>C) c.3804T>C (p.Asp1268=) c.*3634T>C (n.*3634T>C) c.3384T>C (p.Asp1128=) c.558T>C (p.Asp186=) c.1597T>C (n.1597T>C) c.392T>C c.1260T>C c.3720T>C (p.Asp1240=) c.3900T>C (p.Asp1300=) c.3567T>C (p.Asp1189=) | ClinVar |
7 | g.117642530T>G | CA368975109 | CFTR | c.*19T>G (n.*19T>G) c.*3524T>G (n.*3524T>G) c.3627T>G (p.Asp1209Glu) c.3810T>G (p.Asp1270Glu) c.*463T>G (n.*463T>G) c.*471T>G (n.*471T>G) c.*2185T>G (n.*2185T>G) c.3804T>G (p.Asp1268Glu) c.*3634T>G (n.*3634T>G) c.3384T>G (p.Asp1128Glu) c.558T>G (p.Asp186Glu) c.1597T>G (n.1597T>G) c.392T>G c.1260T>G c.3720T>G (p.Asp1240Glu) c.3900T>G (p.Asp1300Glu) c.3567T>G (p.Asp1189Glu) | |
7 | g.117642531G>A | CA368975114 | CFTR | c.*20G>A (n.*20G>A) c.*3525G>A (n.*3525G>A) c.3628G>A (p.Gly1210Ser) c.3811G>A (p.Gly1271Ser) c.*464G>A (n.*464G>A) c.*472G>A (n.*472G>A) c.*2186G>A (n.*2186G>A) c.3805G>A (p.Gly1269Ser) c.*3635G>A (n.*3635G>A) c.3385G>A (p.Gly1129Ser) c.559G>A (p.Gly187Ser) c.1598G>A (n.1598G>A) c.393G>A c.1261G>A c.3721G>A (p.Gly1241Ser) c.3901G>A (p.Gly1301Ser) c.3568G>A (p.Gly1190Ser) | ClinVar dbSNP |
7 | g.117642531G>C | CA368975117 | CFTR | c.*20G>C (n.*20G>C) c.*3525G>C (n.*3525G>C) c.3628G>C (p.Gly1210Arg) c.3811G>C (p.Gly1271Arg) c.*464G>C (n.*464G>C) c.*472G>C (n.*472G>C) c.*2186G>C (n.*2186G>C) c.3805G>C (p.Gly1269Arg) c.*3635G>C (n.*3635G>C) c.3385G>C (p.Gly1129Arg) c.559G>C (p.Gly187Arg) c.1598G>C (n.1598G>C) c.393G>C c.1261G>C c.3721G>C (p.Gly1241Arg) c.3901G>C (p.Gly1301Arg) c.3568G>C (p.Gly1190Arg) | |
7 | g.117642531G= | CA1737404783 | CFTR | c.*20G= (n.*20G=) c.*3525G= (n.*3525G=) c.3628G= (p.Gly1210=) c.3811G= (p.Gly1271=) c.*464G= (n.*464G=) c.*472G= (n.*472G=) c.*2186G= (n.*2186G=) c.3805G= (p.Gly1269=) c.*3635G= (n.*3635G=) c.3385G= (p.Gly1129=) c.559G= (p.Gly187=) c.1598G= (n.1598G=) c.393G= c.1261G= c.3721G= (p.Gly1241=) c.3901G= (p.Gly1301=) c.3568G= (p.Gly1190=) | |
7 | g.117642531G>T | CA368975120 | CFTR | c.*20G>T (n.*20G>T) c.*3525G>T (n.*3525G>T) c.3628G>T (p.Gly1210Cys) c.3811G>T (p.Gly1271Cys) c.*464G>T (n.*464G>T) c.*472G>T (n.*472G>T) c.*2186G>T (n.*2186G>T) c.3805G>T (p.Gly1269Cys) c.*3635G>T (n.*3635G>T) c.3385G>T (p.Gly1129Cys) c.559G>T (p.Gly187Cys) c.1598G>T (n.1598G>T) c.393G>T c.1261G>T c.3721G>T (p.Gly1241Cys) c.3901G>T (p.Gly1301Cys) c.3568G>T (p.Gly1190Cys) | |
7 | g.117642531_117642533delinsGGT | CA1737404784 | CFTR | c.*20_*22delinsGGT (n.*20_*22delinsGGT) c.*3525_*3527delinsGGT (n.*3525_*3527delinsGGT) c.3628_3630delinsGGT (p.Gly1210=) c.3811_3813delinsGGT (p.Gly1271=) c.*464_*466delinsGGT (n.*464_*466delinsGGT) c.*472_*474delinsGGT (n.*472_*474delinsGGT) c.*2186_*2188delinsGGT (n.*2186_*2188delinsGGT) c.3805_3807delinsGGT (p.Gly1269=) c.*3635_*3637delinsGGT (n.*3635_*3637delinsGGT) c.3385_3387delinsGGT (p.Gly1129=) c.559_561delinsGGT (p.Gly187=) c.1598_1600delinsGGT (n.1598_1600delinsGGT) c.393_395delinsGGT c.1261_1263delinsGGT c.3721_3723delinsGGT (p.Gly1241=) c.3901_3903delinsGGT (p.Gly1301=) c.3568_3570delinsGGT (p.Gly1190=) | |
7 | g.117642532G>A | CA368975126 | CFTR | c.*21G>A (n.*21G>A) c.*3526G>A (n.*3526G>A) c.3629G>A (p.Gly1210Asp) c.3812G>A (p.Gly1271Asp) c.*465G>A (n.*465G>A) c.*473G>A (n.*473G>A) c.*2187G>A (n.*2187G>A) c.3806G>A (p.Gly1269Asp) c.*3636G>A (n.*3636G>A) c.3386G>A (p.Gly1129Asp) c.560G>A (p.Gly187Asp) c.1599G>A (n.1599G>A) c.394G>A c.1262G>A c.3722G>A (p.Gly1241Asp) c.3902G>A (p.Gly1301Asp) c.3569G>A (p.Gly1190Asp) | |
7 | g.117642532G>C | CA368975130 | CFTR | c.*21G>C (n.*21G>C) c.*3526G>C (n.*3526G>C) c.3629G>C (p.Gly1210Ala) c.3812G>C (p.Gly1271Ala) c.*465G>C (n.*465G>C) c.*473G>C (n.*473G>C) c.*2187G>C (n.*2187G>C) c.3806G>C (p.Gly1269Ala) c.*3636G>C (n.*3636G>C) c.3386G>C (p.Gly1129Ala) c.560G>C (p.Gly187Ala) c.1599G>C (n.1599G>C) c.394G>C c.1262G>C c.3722G>C (p.Gly1241Ala) c.3902G>C (p.Gly1301Ala) c.3569G>C (p.Gly1190Ala) | |
7 | g.117642532G>T | CA368975133 | CFTR | c.*21G>T (n.*21G>T) c.*3526G>T (n.*3526G>T) c.3629G>T (p.Gly1210Val) c.3812G>T (p.Gly1271Val) c.*465G>T (n.*465G>T) c.*473G>T (n.*473G>T) c.*2187G>T (n.*2187G>T) c.3806G>T (p.Gly1269Val) c.*3636G>T (n.*3636G>T) c.3386G>T (p.Gly1129Val) c.560G>T (p.Gly187Val) c.1599G>T (n.1599G>T) c.394G>T c.1262G>T c.3722G>T (p.Gly1241Val) c.3902G>T (p.Gly1301Val) c.3569G>T (p.Gly1190Val) | |
7 | g.117642536_117642537del | CA327298 | CFTR | c.*25_*26del (n.*25_*26del) c.*3530_*3531del (n.*3530_*3531del) c.3633_3634del (p.Ser1212LeufsTer28) c.3816_3817del (p.Ser1273LeufsTer?) c.*469_*470del (n.*469_*470del) c.3816_3817del (p.Ser1273LeufsTer28) c.*477_*478del (n.*477_*478del) c.*2191_*2192del (n.*2191_*2192del) c.3810_3811del (p.Ser1271LeufsTer28) c.*3640_*3641del (n.*3640_*3641del) c.3390_3391del (p.Ser1131LeufsTer28) c.564_565del (p.Ser189LeufsTer?) c.1603_1604del (n.1603_1604del) c.398_399del c.1266_1267del c.3726_3727del (p.Ser1243LeufsTer28) c.3906_3907del (p.Ser1303LeufsTer28) c.3573_3574del (p.Ser1192LeufsTer28) | ClinVar dbSNP gnomAD v4 |
7 | g.117642533T>A | CA457228281 | CFTR | c.*22T>A (n.*22T>A) c.*3527T>A (n.*3527T>A) c.3630T>A (p.Gly1210=) c.3813T>A (p.Gly1271=) c.*466T>A (n.*466T>A) c.*474T>A (n.*474T>A) c.*2188T>A (n.*2188T>A) c.3807T>A (p.Gly1269=) c.*3637T>A (n.*3637T>A) c.3387T>A (p.Gly1129=) c.561T>A (p.Gly187=) c.1600T>A (n.1600T>A) c.395T>A c.1263T>A c.3723T>A (p.Gly1241=) c.3903T>A (p.Gly1301=) c.3570T>A (p.Gly1190=) | |
7 | g.117642533T>C | CA457228284 | CFTR | c.*22T>C (n.*22T>C) c.*3527T>C (n.*3527T>C) c.3630T>C (p.Gly1210=) c.3813T>C (p.Gly1271=) c.*466T>C (n.*466T>C) c.*474T>C (n.*474T>C) c.*2188T>C (n.*2188T>C) c.3807T>C (p.Gly1269=) c.*3637T>C (n.*3637T>C) c.3387T>C (p.Gly1129=) c.561T>C (p.Gly187=) c.1600T>C (n.1600T>C) c.395T>C c.1263T>C c.3723T>C (p.Gly1241=) c.3903T>C (p.Gly1301=) c.3570T>C (p.Gly1190=) | |
7 | g.117642533T>G | CA457228283 | CFTR | c.*22T>G (n.*22T>G) c.*3527T>G (n.*3527T>G) c.3630T>G (p.Gly1210=) c.3813T>G (p.Gly1271=) c.*466T>G (n.*466T>G) c.*474T>G (n.*474T>G) c.*2188T>G (n.*2188T>G) c.3807T>G (p.Gly1269=) c.*3637T>G (n.*3637T>G) c.3387T>G (p.Gly1129=) c.561T>G (p.Gly187=) c.1600T>G (n.1600T>G) c.395T>G c.1263T>G c.3723T>G (p.Gly1241=) c.3903T>G (p.Gly1301=) c.3570T>G (p.Gly1190=) | |
7 | g.117642534G>A | CA368975138 | CFTR | c.*23G>A (n.*23G>A) c.*3528G>A (n.*3528G>A) c.3631G>A (p.Val1211Met) c.3814G>A (p.Val1272Met) c.*467G>A (n.*467G>A) c.*475G>A (n.*475G>A) c.*2189G>A (n.*2189G>A) c.3808G>A (p.Val1270Met) c.*3638G>A (n.*3638G>A) c.3388G>A (p.Val1130Met) c.562G>A (p.Val188Met) c.1601G>A (n.1601G>A) c.396G>A c.1264G>A c.3724G>A (p.Val1242Met) c.3904G>A (p.Val1302Met) c.3571G>A (p.Val1191Met) | dbSNP |
7 | g.117642534G>C | CA368975139 | CFTR | c.*23G>C (n.*23G>C) c.*3528G>C (n.*3528G>C) c.3631G>C (p.Val1211Leu) c.3814G>C (p.Val1272Leu) c.*467G>C (n.*467G>C) c.*475G>C (n.*475G>C) c.*2189G>C (n.*2189G>C) c.3808G>C (p.Val1270Leu) c.*3638G>C (n.*3638G>C) c.3388G>C (p.Val1130Leu) c.562G>C (p.Val188Leu) c.1601G>C (n.1601G>C) c.396G>C c.1264G>C c.3724G>C (p.Val1242Leu) c.3904G>C (p.Val1302Leu) c.3571G>C (p.Val1191Leu) | |
7 | g.117642534G= | CA1737404785 | CFTR | c.*23G= (n.*23G=) c.*3528G= (n.*3528G=) c.3631G= (p.Val1211=) c.3814G= (p.Val1272=) c.*467G= (n.*467G=) c.*475G= (n.*475G=) c.*2189G= (n.*2189G=) c.3808G= (p.Val1270=) c.*3638G= (n.*3638G=) c.3388G= (p.Val1130=) c.562G= (p.Val188=) c.1601G= (n.1601G=) c.396G= c.1264G= c.3724G= (p.Val1242=) c.3904G= (p.Val1302=) c.3571G= (p.Val1191=) | |
7 | g.117642534G>T | CA368975144 | CFTR | c.*23G>T (n.*23G>T) c.*3528G>T (n.*3528G>T) c.3631G>T (p.Val1211Leu) c.3814G>T (p.Val1272Leu) c.*467G>T (n.*467G>T) c.*475G>T (n.*475G>T) c.*2189G>T (n.*2189G>T) c.3808G>T (p.Val1270Leu) c.*3638G>T (n.*3638G>T) c.3388G>T (p.Val1130Leu) c.562G>T (p.Val188Leu) c.1601G>T (n.1601G>T) c.396G>T c.1264G>T c.3724G>T (p.Val1242Leu) c.3904G>T (p.Val1302Leu) c.3571G>T (p.Val1191Leu) | |
7 | g.117642535T>A | CA242298 | CFTR | c.*24T>A (n.*24T>A) c.*3529T>A (n.*3529T>A) c.3632T>A (p.Val1211Glu) c.3815T>A (p.Val1272Glu) c.*468T>A (n.*468T>A) c.*476T>A (n.*476T>A) c.*2190T>A (n.*2190T>A) c.3809T>A (p.Val1270Glu) c.*3639T>A (n.*3639T>A) c.3389T>A (p.Val1130Glu) c.563T>A (p.Val188Glu) c.1602T>A (n.1602T>A) c.397T>A c.1265T>A c.3725T>A (p.Val1242Glu) c.3905T>A (p.Val1302Glu) c.3572T>A (p.Val1191Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642535T>C | CA368975153 | CFTR | c.*24T>C (n.*24T>C) c.*3529T>C (n.*3529T>C) c.3632T>C (p.Val1211Ala) c.3815T>C (p.Val1272Ala) c.*468T>C (n.*468T>C) c.*476T>C (n.*476T>C) c.*2190T>C (n.*2190T>C) c.3809T>C (p.Val1270Ala) c.*3639T>C (n.*3639T>C) c.3389T>C (p.Val1130Ala) c.563T>C (p.Val188Ala) c.1602T>C (n.1602T>C) c.397T>C c.1265T>C c.3725T>C (p.Val1242Ala) c.3905T>C (p.Val1302Ala) c.3572T>C (p.Val1191Ala) | |
7 | g.117642535T>G | CA4451552 | CFTR | c.*24T>G (n.*24T>G) c.*3529T>G (n.*3529T>G) c.3632T>G (p.Val1211Gly) c.3815T>G (p.Val1272Gly) c.*468T>G (n.*468T>G) c.*476T>G (n.*476T>G) c.*2190T>G (n.*2190T>G) c.3809T>G (p.Val1270Gly) c.*3639T>G (n.*3639T>G) c.3389T>G (p.Val1130Gly) c.563T>G (p.Val188Gly) c.1602T>G (n.1602T>G) c.397T>G c.1265T>G c.3725T>G (p.Val1242Gly) c.3905T>G (p.Val1302Gly) c.3572T>G (p.Val1191Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117642535T= | CA1737404786 | CFTR | c.*24T= (n.*24T=) c.*3529T= (n.*3529T=) c.3632T= (p.Val1211=) c.3815T= (p.Val1272=) c.*468T= (n.*468T=) c.*476T= (n.*476T=) c.*2190T= (n.*2190T=) c.3809T= (p.Val1270=) c.*3639T= (n.*3639T=) c.3389T= (p.Val1130=) c.563T= (p.Val188=) c.1602T= (n.1602T=) c.397T= c.1265T= c.3725T= (p.Val1242=) c.3905T= (p.Val1302=) c.3572T= (p.Val1191=) | |
7 | g.117642536G>A | CA457228295 | CFTR | c.*25G>A (n.*25G>A) c.*3530G>A (n.*3530G>A) c.3633G>A (p.Val1211=) c.3816G>A (p.Val1272=) c.*469G>A (n.*469G>A) c.*477G>A (n.*477G>A) c.*2191G>A (n.*2191G>A) c.3810G>A (p.Val1270=) c.*3640G>A (n.*3640G>A) c.3390G>A (p.Val1130=) c.564G>A (p.Val188=) c.1603G>A (n.1603G>A) c.398G>A c.1266G>A c.3726G>A (p.Val1242=) c.3906G>A (p.Val1302=) c.3573G>A (p.Val1191=) | ClinVar |
7 | g.117642536G>C | CA457228297 | CFTR | c.*25G>C (n.*25G>C) c.*3530G>C (n.*3530G>C) c.3633G>C (p.Val1211=) c.3816G>C (p.Val1272=) c.*469G>C (n.*469G>C) c.*477G>C (n.*477G>C) c.*2191G>C (n.*2191G>C) c.3810G>C (p.Val1270=) c.*3640G>C (n.*3640G>C) c.3390G>C (p.Val1130=) c.564G>C (p.Val188=) c.1603G>C (n.1603G>C) c.398G>C c.1266G>C c.3726G>C (p.Val1242=) c.3906G>C (p.Val1302=) c.3573G>C (p.Val1191=) | |
7 | g.117642536G= | CA1737404787 | CFTR | c.*25G= (n.*25G=) c.*3530G= (n.*3530G=) c.3633G= (p.Val1211=) c.3816G= (p.Val1272=) c.*469G= (n.*469G=) c.*477G= (n.*477G=) c.*2191G= (n.*2191G=) c.3810G= (p.Val1270=) c.*3640G= (n.*3640G=) c.3390G= (p.Val1130=) c.564G= (p.Val188=) c.1603G= (n.1603G=) c.398G= c.1266G= c.3726G= (p.Val1242=) c.3906G= (p.Val1302=) c.3573G= (p.Val1191=) | |
7 | g.117642536G>T | CA457228299 | CFTR | c.*25G>T (n.*25G>T) c.*3530G>T (n.*3530G>T) c.3633G>T (p.Val1211=) c.3816G>T (p.Val1272=) c.*469G>T (n.*469G>T) c.*477G>T (n.*477G>T) c.*2191G>T (n.*2191G>T) c.3810G>T (p.Val1270=) c.*3640G>T (n.*3640G>T) c.3390G>T (p.Val1130=) c.564G>T (p.Val188=) c.1603G>T (n.1603G>T) c.398G>T c.1266G>T c.3726G>T (p.Val1242=) c.3906G>T (p.Val1302=) c.3573G>T (p.Val1191=) | dbSNP |
7 | g.117642537T>A | CA368975159 | CFTR | c.*26T>A (n.*26T>A) c.*3531T>A (n.*3531T>A) c.3634T>A (p.Ser1212Thr) c.3817T>A (p.Ser1273Thr) c.*470T>A (n.*470T>A) c.*478T>A (n.*478T>A) c.*2192T>A (n.*2192T>A) c.3811T>A (p.Ser1271Thr) c.*3641T>A (n.*3641T>A) c.3391T>A (p.Ser1131Thr) c.565T>A (p.Ser189Thr) c.1604T>A (n.1604T>A) c.399T>A c.1267T>A c.3727T>A (p.Ser1243Thr) c.3907T>A (p.Ser1303Thr) c.3574T>A (p.Ser1192Thr) | |
7 | g.117642537T>C | CA368975161 | CFTR | c.*26T>C (n.*26T>C) c.*3531T>C (n.*3531T>C) c.3634T>C (p.Ser1212Pro) c.3817T>C (p.Ser1273Pro) c.*470T>C (n.*470T>C) c.*478T>C (n.*478T>C) c.*2192T>C (n.*2192T>C) c.3811T>C (p.Ser1271Pro) c.*3641T>C (n.*3641T>C) c.3391T>C (p.Ser1131Pro) c.565T>C (p.Ser189Pro) c.1604T>C (n.1604T>C) c.399T>C c.1267T>C c.3727T>C (p.Ser1243Pro) c.3907T>C (p.Ser1303Pro) c.3574T>C (p.Ser1192Pro) | gnomAD v4 |
7 | g.117642537T>G | CA368975166 | CFTR | c.*26T>G (n.*26T>G) c.*3531T>G (n.*3531T>G) c.3634T>G (p.Ser1212Ala) c.3817T>G (p.Ser1273Ala) c.*470T>G (n.*470T>G) c.*478T>G (n.*478T>G) c.*2192T>G (n.*2192T>G) c.3811T>G (p.Ser1271Ala) c.*3641T>G (n.*3641T>G) c.3391T>G (p.Ser1131Ala) c.565T>G (p.Ser189Ala) c.1604T>G (n.1604T>G) c.399T>G c.1267T>G c.3727T>G (p.Ser1243Ala) c.3907T>G (p.Ser1303Ala) c.3574T>G (p.Ser1192Ala) | |
7 | g.117642538C>A | CA368975172 | CFTR | c.*27C>A (n.*27C>A) c.*3532C>A (n.*3532C>A) c.3635C>A (p.Ser1212Tyr) c.3818C>A (p.Ser1273Tyr) c.*471C>A (n.*471C>A) c.*479C>A (n.*479C>A) c.*2193C>A (n.*2193C>A) c.3812C>A (p.Ser1271Tyr) c.*3642C>A (n.*3642C>A) c.3392C>A (p.Ser1131Tyr) c.566C>A (p.Ser189Tyr) c.1605C>A (n.1605C>A) c.400C>A c.1268C>A c.3728C>A (p.Ser1243Tyr) c.3908C>A (p.Ser1303Tyr) c.3575C>A (p.Ser1192Tyr) | |
7 | g.117642538C>G | CA368975176 | CFTR | c.*27C>G (n.*27C>G) c.*3532C>G (n.*3532C>G) c.3635C>G (p.Ser1212Cys) c.3818C>G (p.Ser1273Cys) c.*471C>G (n.*471C>G) c.*479C>G (n.*479C>G) c.*2193C>G (n.*2193C>G) c.3812C>G (p.Ser1271Cys) c.*3642C>G (n.*3642C>G) c.3392C>G (p.Ser1131Cys) c.566C>G (p.Ser189Cys) c.1605C>G (n.1605C>G) c.400C>G c.1268C>G c.3728C>G (p.Ser1243Cys) c.3908C>G (p.Ser1303Cys) c.3575C>G (p.Ser1192Cys) | |
7 | g.117642538C>T | CA368975190 | CFTR | c.*27C>T (n.*27C>T) c.*3532C>T (n.*3532C>T) c.3635C>T (p.Ser1212Phe) c.3818C>T (p.Ser1273Phe) c.*471C>T (n.*471C>T) c.*479C>T (n.*479C>T) c.*2193C>T (n.*2193C>T) c.3812C>T (p.Ser1271Phe) c.*3642C>T (n.*3642C>T) c.3392C>T (p.Ser1131Phe) c.566C>T (p.Ser189Phe) c.1605C>T (n.1605C>T) c.400C>T c.1268C>T c.3728C>T (p.Ser1243Phe) c.3908C>T (p.Ser1303Phe) c.3575C>T (p.Ser1192Phe) | gnomAD v4 |
7 | g.117642539T>A | CA457228308 | CFTR | c.*28T>A (n.*28T>A) c.*3533T>A (n.*3533T>A) c.3636T>A (p.Ser1212=) c.3819T>A (p.Ser1273=) c.*472T>A (n.*472T>A) c.*480T>A (n.*480T>A) c.*2194T>A (n.*2194T>A) c.3813T>A (p.Ser1271=) c.*3643T>A (n.*3643T>A) c.3393T>A (p.Ser1131=) c.567T>A (p.Ser189=) c.1606T>A (n.1606T>A) c.401T>A c.1269T>A c.3729T>A (p.Ser1243=) c.3909T>A (p.Ser1303=) c.3576T>A (p.Ser1192=) | |
7 | g.117642539T>C | CA457228310 | CFTR | c.*28T>C (n.*28T>C) c.*3533T>C (n.*3533T>C) c.3636T>C (p.Ser1212=) c.3819T>C (p.Ser1273=) c.*472T>C (n.*472T>C) c.*480T>C (n.*480T>C) c.*2194T>C (n.*2194T>C) c.3813T>C (p.Ser1271=) c.*3643T>C (n.*3643T>C) c.3393T>C (p.Ser1131=) c.567T>C (p.Ser189=) c.1606T>C (n.1606T>C) c.401T>C c.1269T>C c.3729T>C (p.Ser1243=) c.3909T>C (p.Ser1303=) c.3576T>C (p.Ser1192=) | dbSNP |
7 | g.117642539T>G | CA457228312 | CFTR | c.*28T>G (n.*28T>G) c.*3533T>G (n.*3533T>G) c.3636T>G (p.Ser1212=) c.3819T>G (p.Ser1273=) c.*472T>G (n.*472T>G) c.*480T>G (n.*480T>G) c.*2194T>G (n.*2194T>G) c.3813T>G (p.Ser1271=) c.*3643T>G (n.*3643T>G) c.3393T>G (p.Ser1131=) c.567T>G (p.Ser189=) c.1606T>G (n.1606T>G) c.401T>G c.1269T>G c.3729T>G (p.Ser1243=) c.3909T>G (p.Ser1303=) c.3576T>G (p.Ser1192=) | ClinVar |
7 | g.117642539T= | CA1737404788 | CFTR | c.*28T= (n.*28T=) c.*3533T= (n.*3533T=) c.3636T= (p.Ser1212=) c.3819T= (p.Ser1273=) c.*472T= (n.*472T=) c.*480T= (n.*480T=) c.*2194T= (n.*2194T=) c.3813T= (p.Ser1271=) c.*3643T= (n.*3643T=) c.3393T= (p.Ser1131=) c.567T= (p.Ser189=) c.1606T= (n.1606T=) c.401T= c.1269T= c.3729T= (p.Ser1243=) c.3909T= (p.Ser1303=) c.3576T= (p.Ser1192=) | |
7 | g.117642540T>A | CA368975194 | CFTR | c.*29T>A (n.*29T>A) c.*3534T>A (n.*3534T>A) c.3637T>A (p.Trp1213Arg) c.3820T>A (p.Trp1274Arg) c.*473T>A (n.*473T>A) c.*481T>A (n.*481T>A) c.*2195T>A (n.*2195T>A) c.3814T>A (p.Trp1272Arg) c.*3644T>A (n.*3644T>A) c.3394T>A (p.Trp1132Arg) c.568T>A (p.Trp190Arg) c.1607T>A (n.1607T>A) c.402T>A c.1270T>A c.3730T>A (p.Trp1244Arg) c.3910T>A (p.Trp1304Arg) c.3577T>A (p.Trp1193Arg) | |
7 | g.117642540T>C | CA368975196 | CFTR | c.*29T>C (n.*29T>C) c.*3534T>C (n.*3534T>C) c.3637T>C (p.Trp1213Arg) c.3820T>C (p.Trp1274Arg) c.*473T>C (n.*473T>C) c.*481T>C (n.*481T>C) c.*2195T>C (n.*2195T>C) c.3814T>C (p.Trp1272Arg) c.*3644T>C (n.*3644T>C) c.3394T>C (p.Trp1132Arg) c.568T>C (p.Trp190Arg) c.1607T>C (n.1607T>C) c.402T>C c.1270T>C c.3730T>C (p.Trp1244Arg) c.3910T>C (p.Trp1304Arg) c.3577T>C (p.Trp1193Arg) | |
7 | g.117642540T>G | CA368975199 | CFTR | c.*29T>G (n.*29T>G) c.*3534T>G (n.*3534T>G) c.3637T>G (p.Trp1213Gly) c.3820T>G (p.Trp1274Gly) c.*473T>G (n.*473T>G) c.*481T>G (n.*481T>G) c.*2195T>G (n.*2195T>G) c.3814T>G (p.Trp1272Gly) c.*3644T>G (n.*3644T>G) c.3394T>G (p.Trp1132Gly) c.568T>G (p.Trp190Gly) c.1607T>G (n.1607T>G) c.402T>G c.1270T>G c.3730T>G (p.Trp1244Gly) c.3910T>G (p.Trp1304Gly) c.3577T>G (p.Trp1193Gly) | |
7 | g.117642541G>A | CA368975218 | CFTR | c.*30G>A (n.*30G>A) c.*3535G>A (n.*3535G>A) c.3638G>A (p.Trp1213Ter) c.3821G>A (p.Trp1274Ter) c.*474G>A (n.*474G>A) c.*482G>A (n.*482G>A) c.*2196G>A (n.*2196G>A) c.3815G>A (p.Trp1272Ter) c.*3645G>A (n.*3645G>A) c.3395G>A (p.Trp1132Ter) c.569G>A (p.Trp190Ter) c.1608G>A (n.1608G>A) c.403G>A c.1271G>A c.3731G>A (p.Trp1244Ter) c.3911G>A (p.Trp1304Ter) c.3578G>A (p.Trp1193Ter) | |
7 | g.117642541G>C | CA368975215 | CFTR | c.*30G>C (n.*30G>C) c.*3535G>C (n.*3535G>C) c.3638G>C (p.Trp1213Ser) c.3821G>C (p.Trp1274Ser) c.*474G>C (n.*474G>C) c.*482G>C (n.*482G>C) c.*2196G>C (n.*2196G>C) c.3815G>C (p.Trp1272Ser) c.*3645G>C (n.*3645G>C) c.3395G>C (p.Trp1132Ser) c.569G>C (p.Trp190Ser) c.1608G>C (n.1608G>C) c.403G>C c.1271G>C c.3731G>C (p.Trp1244Ser) c.3911G>C (p.Trp1304Ser) c.3578G>C (p.Trp1193Ser) | gnomAD v4 |
7 | g.117642541G>T | CA368975209 | CFTR | c.*30G>T (n.*30G>T) c.*3535G>T (n.*3535G>T) c.3638G>T (p.Trp1213Leu) c.3821G>T (p.Trp1274Leu) c.*474G>T (n.*474G>T) c.*482G>T (n.*482G>T) c.*2196G>T (n.*2196G>T) c.3815G>T (p.Trp1272Leu) c.*3645G>T (n.*3645G>T) c.3395G>T (p.Trp1132Leu) c.569G>T (p.Trp190Leu) c.1608G>T (n.1608G>T) c.403G>T c.1271G>T c.3731G>T (p.Trp1244Leu) c.3911G>T (p.Trp1304Leu) c.3578G>T (p.Trp1193Leu) | |
7 | g.117642542G>A | CA327299 | CFTR | c.*31G>A (n.*31G>A) c.*3536G>A (n.*3536G>A) c.3639G>A (p.Trp1213Ter) c.3822G>A (p.Trp1274Ter) c.*475G>A (n.*475G>A) c.*483G>A (n.*483G>A) c.*2197G>A (n.*2197G>A) c.3816G>A (p.Trp1272Ter) c.*3646G>A (n.*3646G>A) c.3396G>A (p.Trp1132Ter) c.570G>A (p.Trp190Ter) c.1609G>A (n.1609G>A) c.404G>A c.1272G>A c.3732G>A (p.Trp1244Ter) c.3912G>A (p.Trp1304Ter) c.3579G>A (p.Trp1193Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117642542G>C | CA368975233 | CFTR | c.*31G>C (n.*31G>C) c.*3536G>C (n.*3536G>C) c.3639G>C (p.Trp1213Cys) c.3822G>C (p.Trp1274Cys) c.*475G>C (n.*475G>C) c.*483G>C (n.*483G>C) c.*2197G>C (n.*2197G>C) c.3816G>C (p.Trp1272Cys) c.*3646G>C (n.*3646G>C) c.3396G>C (p.Trp1132Cys) c.570G>C (p.Trp190Cys) c.1609G>C (n.1609G>C) c.404G>C c.1272G>C c.3732G>C (p.Trp1244Cys) c.3912G>C (p.Trp1304Cys) c.3579G>C (p.Trp1193Cys) | gnomAD v4 |
7 | g.117642542G= | CA1737404789 | CFTR | c.*31G= (n.*31G=) c.*3536G= (n.*3536G=) c.3639G= (p.Trp1213=) c.3822G= (p.Trp1274=) c.*475G= (n.*475G=) c.*483G= (n.*483G=) c.*2197G= (n.*2197G=) c.3816G= (p.Trp1272=) c.*3646G= (n.*3646G=) c.3396G= (p.Trp1132=) c.570G= (p.Trp190=) c.1609G= (n.1609G=) c.404G= c.1272G= c.3732G= (p.Trp1244=) c.3912G= (p.Trp1304=) c.3579G= (p.Trp1193=) | |
7 | g.117642542G>T | CA368975235 | CFTR | c.*31G>T (n.*31G>T) c.*3536G>T (n.*3536G>T) c.3639G>T (p.Trp1213Cys) c.3822G>T (p.Trp1274Cys) c.*475G>T (n.*475G>T) c.*483G>T (n.*483G>T) c.*2197G>T (n.*2197G>T) c.3816G>T (p.Trp1272Cys) c.*3646G>T (n.*3646G>T) c.3396G>T (p.Trp1132Cys) c.570G>T (p.Trp190Cys) c.1609G>T (n.1609G>T) c.404G>T c.1272G>T c.3732G>T (p.Trp1244Cys) c.3912G>T (p.Trp1304Cys) c.3579G>T (p.Trp1193Cys) | |
7 | g.117642543G>A | CA368975238 | CFTR | c.*32G>A (n.*32G>A) c.*3537G>A (n.*3537G>A) c.3640G>A (p.Asp1214Asn) c.3823G>A (p.Asp1275Asn) c.*476G>A (n.*476G>A) c.*484G>A (n.*484G>A) c.*2198G>A (n.*2198G>A) c.3817G>A (p.Asp1273Asn) c.*3647G>A (n.*3647G>A) c.3397G>A (p.Asp1133Asn) c.571G>A (p.Asp191Asn) c.1610G>A (n.1610G>A) c.405G>A c.1273G>A c.3733G>A (p.Asp1245Asn) c.3913G>A (p.Asp1305Asn) c.3580G>A (p.Asp1194Asn) | COSMIC |
7 | g.117642543G>C | CA368975240 | CFTR | c.*32G>C (n.*32G>C) c.*3537G>C (n.*3537G>C) c.3640G>C (p.Asp1214His) c.3823G>C (p.Asp1275His) c.*476G>C (n.*476G>C) c.*484G>C (n.*484G>C) c.*2198G>C (n.*2198G>C) c.3817G>C (p.Asp1273His) c.*3647G>C (n.*3647G>C) c.3397G>C (p.Asp1133His) c.571G>C (p.Asp191His) c.1610G>C (n.1610G>C) c.405G>C c.1273G>C c.3733G>C (p.Asp1245His) c.3913G>C (p.Asp1305His) c.3580G>C (p.Asp1194His) | |
7 | g.117642543G>T | CA368975244 | CFTR | c.*32G>T (n.*32G>T) c.*3537G>T (n.*3537G>T) c.3640G>T (p.Asp1214Tyr) c.3823G>T (p.Asp1275Tyr) c.*476G>T (n.*476G>T) c.*484G>T (n.*484G>T) c.*2198G>T (n.*2198G>T) c.3817G>T (p.Asp1273Tyr) c.*3647G>T (n.*3647G>T) c.3397G>T (p.Asp1133Tyr) c.571G>T (p.Asp191Tyr) c.1610G>T (n.1610G>T) c.405G>T c.1273G>T c.3733G>T (p.Asp1245Tyr) c.3913G>T (p.Asp1305Tyr) c.3580G>T (p.Asp1194Tyr) | |
7 | g.117642544A>C | CA368975259 | CFTR | c.*33A>C (n.*33A>C) c.*3538A>C (n.*3538A>C) c.3641A>C (p.Asp1214Ala) c.3824A>C (p.Asp1275Ala) c.*477A>C (n.*477A>C) c.*485A>C (n.*485A>C) c.*2199A>C (n.*2199A>C) c.3818A>C (p.Asp1273Ala) c.*3648A>C (n.*3648A>C) c.3398A>C (p.Asp1133Ala) c.572A>C (p.Asp191Ala) c.1611A>C (n.1611A>C) c.406A>C c.1274A>C c.3734A>C (p.Asp1245Ala) c.3914A>C (p.Asp1305Ala) c.3581A>C (p.Asp1194Ala) | |
7 | g.117642544A>G | CA368975251 | CFTR | c.*33A>G (n.*33A>G) c.*3538A>G (n.*3538A>G) c.3641A>G (p.Asp1214Gly) c.3824A>G (p.Asp1275Gly) c.*477A>G (n.*477A>G) c.*485A>G (n.*485A>G) c.*2199A>G (n.*2199A>G) c.3818A>G (p.Asp1273Gly) c.*3648A>G (n.*3648A>G) c.3398A>G (p.Asp1133Gly) c.572A>G (p.Asp191Gly) c.1611A>G (n.1611A>G) c.406A>G c.1274A>G c.3734A>G (p.Asp1245Gly) c.3914A>G (p.Asp1305Gly) c.3581A>G (p.Asp1194Gly) | ClinVar |
7 | g.117642544A>T | CA368975254 | CFTR | c.*33A>T (n.*33A>T) c.*3538A>T (n.*3538A>T) c.3641A>T (p.Asp1214Val) c.3824A>T (p.Asp1275Val) c.*477A>T (n.*477A>T) c.*485A>T (n.*485A>T) c.*2199A>T (n.*2199A>T) c.3818A>T (p.Asp1273Val) c.*3648A>T (n.*3648A>T) c.3398A>T (p.Asp1133Val) c.572A>T (p.Asp191Val) c.1611A>T (n.1611A>T) c.406A>T c.1274A>T c.3734A>T (p.Asp1245Val) c.3914A>T (p.Asp1305Val) c.3581A>T (p.Asp1194Val) | |
7 | g.117642545T>A | CA368975263 | CFTR | c.*34T>A (n.*34T>A) c.*3539T>A (n.*3539T>A) c.3642T>A (p.Asp1214Glu) c.3825T>A (p.Asp1275Glu) c.*478T>A (n.*478T>A) c.*486T>A (n.*486T>A) c.*2200T>A (n.*2200T>A) c.3819T>A (p.Asp1273Glu) c.*3649T>A (n.*3649T>A) c.3399T>A (p.Asp1133Glu) c.573T>A (p.Asp191Glu) c.1612T>A (n.1612T>A) c.407T>A c.1275T>A c.3735T>A (p.Asp1245Glu) c.3915T>A (p.Asp1305Glu) c.3582T>A (p.Asp1194Glu) | |
7 | g.117642545T>C | CA457228329 | CFTR | c.*34T>C (n.*34T>C) c.*3539T>C (n.*3539T>C) c.3642T>C (p.Asp1214=) c.3825T>C (p.Asp1275=) c.*478T>C (n.*478T>C) c.*486T>C (n.*486T>C) c.*2200T>C (n.*2200T>C) c.3819T>C (p.Asp1273=) c.*3649T>C (n.*3649T>C) c.3399T>C (p.Asp1133=) c.573T>C (p.Asp191=) c.1612T>C (n.1612T>C) c.407T>C c.1275T>C c.3735T>C (p.Asp1245=) c.3915T>C (p.Asp1305=) c.3582T>C (p.Asp1194=) | gnomAD v4 |
7 | g.117642545T>G | CA368975265 | CFTR | c.*34T>G (n.*34T>G) c.*3539T>G (n.*3539T>G) c.3642T>G (p.Asp1214Glu) c.3825T>G (p.Asp1275Glu) c.*478T>G (n.*478T>G) c.*486T>G (n.*486T>G) c.*2200T>G (n.*2200T>G) c.3819T>G (p.Asp1273Glu) c.*3649T>G (n.*3649T>G) c.3399T>G (p.Asp1133Glu) c.573T>G (p.Asp191Glu) c.1612T>G (n.1612T>G) c.407T>G c.1275T>G c.3735T>G (p.Asp1245Glu) c.3915T>G (p.Asp1305Glu) c.3582T>G (p.Asp1194Glu) | |
7 | g.117642546T>A | CA368975268 | CFTR | c.*35T>A (n.*35T>A) c.*3540T>A (n.*3540T>A) c.3643T>A (p.Ser1215Thr) c.3826T>A (p.Ser1276Thr) c.*479T>A (n.*479T>A) c.*487T>A (n.*487T>A) c.*2201T>A (n.*2201T>A) c.3820T>A (p.Ser1274Thr) c.*3650T>A (n.*3650T>A) c.3400T>A (p.Ser1134Thr) c.574T>A (p.Ser192Thr) c.1613T>A (n.1613T>A) c.408T>A c.1276T>A c.3736T>A (p.Ser1246Thr) c.3916T>A (p.Ser1306Thr) c.3583T>A (p.Ser1195Thr) | |
7 | g.117642546T>C | CA368975271 | CFTR | c.*35T>C (n.*35T>C) c.*3540T>C (n.*3540T>C) c.3643T>C (p.Ser1215Pro) c.3826T>C (p.Ser1276Pro) c.*479T>C (n.*479T>C) c.*487T>C (n.*487T>C) c.*2201T>C (n.*2201T>C) c.3820T>C (p.Ser1274Pro) c.*3650T>C (n.*3650T>C) c.3400T>C (p.Ser1134Pro) c.574T>C (p.Ser192Pro) c.1613T>C (n.1613T>C) c.408T>C c.1276T>C c.3736T>C (p.Ser1246Pro) c.3916T>C (p.Ser1306Pro) c.3583T>C (p.Ser1195Pro) | |
7 | g.117642546T>G | CA368975279 | CFTR | c.*35T>G (n.*35T>G) c.*3540T>G (n.*3540T>G) c.3643T>G (p.Ser1215Ala) c.3826T>G (p.Ser1276Ala) c.*479T>G (n.*479T>G) c.*487T>G (n.*487T>G) c.*2201T>G (n.*2201T>G) c.3820T>G (p.Ser1274Ala) c.*3650T>G (n.*3650T>G) c.3400T>G (p.Ser1134Ala) c.574T>G (p.Ser192Ala) c.1613T>G (n.1613T>G) c.408T>G c.1276T>G c.3736T>G (p.Ser1246Ala) c.3916T>G (p.Ser1306Ala) c.3583T>G (p.Ser1195Ala) | |
7 | g.117642547C>A | CA368975284 | CFTR | c.*36C>A (n.*36C>A) c.*3541C>A (n.*3541C>A) c.3644C>A (p.Ser1215Ter) c.3827C>A (p.Ser1276Ter) c.*480C>A (n.*480C>A) c.*488C>A (n.*488C>A) c.*2202C>A (n.*2202C>A) c.3821C>A (p.Ser1274Ter) c.*3651C>A (n.*3651C>A) c.3401C>A (p.Ser1134Ter) c.575C>A (p.Ser192Ter) c.1614C>A (n.1614C>A) c.409C>A c.1277C>A c.3737C>A (p.Ser1246Ter) c.3917C>A (p.Ser1306Ter) c.3584C>A (p.Ser1195Ter) | |
7 | g.117642547C>G | CA368975291 | CFTR | c.*36C>G (n.*36C>G) c.*3541C>G (n.*3541C>G) c.3644C>G (p.Ser1215Ter) c.3827C>G (p.Ser1276Ter) c.*480C>G (n.*480C>G) c.*488C>G (n.*488C>G) c.*2202C>G (n.*2202C>G) c.3821C>G (p.Ser1274Ter) c.*3651C>G (n.*3651C>G) c.3401C>G (p.Ser1134Ter) c.575C>G (p.Ser192Ter) c.1614C>G (n.1614C>G) c.409C>G c.1277C>G c.3737C>G (p.Ser1246Ter) c.3917C>G (p.Ser1306Ter) c.3584C>G (p.Ser1195Ter) | gnomAD v4 |
7 | g.117642547C>T | CA368975287 | CFTR | c.*36C>T (n.*36C>T) c.*3541C>T (n.*3541C>T) c.3644C>T (p.Ser1215Leu) c.3827C>T (p.Ser1276Leu) c.*480C>T (n.*480C>T) c.*488C>T (n.*488C>T) c.*2202C>T (n.*2202C>T) c.3821C>T (p.Ser1274Leu) c.*3651C>T (n.*3651C>T) c.3401C>T (p.Ser1134Leu) c.575C>T (p.Ser192Leu) c.1614C>T (n.1614C>T) c.409C>T c.1277C>T c.3737C>T (p.Ser1246Leu) c.3917C>T (p.Ser1306Leu) c.3584C>T (p.Ser1195Leu) | |
7 | g.117642547_117642548delinsCA | CA1737404790 | CFTR | c.*36_*37delinsCA (n.*36_*37delinsCA) c.*3541_*3542delinsCA (n.*3541_*3542delinsCA) c.3644_3645delinsCA (p.Ser1215=) c.3827_3828delinsCA (p.Ser1276=) c.*480_*481delinsCA (n.*480_*481delinsCA) c.*488_*489delinsCA (n.*488_*489delinsCA) c.*2202_*2203delinsCA (n.*2202_*2203delinsCA) c.3821_3822delinsCA (p.Ser1274=) c.*3651_*3652delinsCA (n.*3651_*3652delinsCA) c.3401_3402delinsCA (p.Ser1134=) c.575_576delinsCA (p.Ser192=) c.1614_1615delinsCA (n.1614_1615delinsCA) c.409_410delinsCA c.1277_1278delinsCA c.3737_3738delinsCA (p.Ser1246=) c.3917_3918delinsCA (p.Ser1306=) c.3584_3585delinsCA (p.Ser1195=) | |
7 | g.117642548A>C | CA457228339 | CFTR | c.*37A>C (n.*37A>C) c.*3542A>C (n.*3542A>C) c.3645A>C (p.Ser1215=) c.3828A>C (p.Ser1276=) c.*481A>C (n.*481A>C) c.*489A>C (n.*489A>C) c.*2203A>C (n.*2203A>C) c.3822A>C (p.Ser1274=) c.*3652A>C (n.*3652A>C) c.3402A>C (p.Ser1134=) c.576A>C (p.Ser192=) c.1615A>C (n.1615A>C) c.410A>C c.1278A>C c.3738A>C (p.Ser1246=) c.3918A>C (p.Ser1306=) c.3585A>C (p.Ser1195=) | |
7 | g.117642548A>G | CA457228341 | CFTR | c.*37A>G (n.*37A>G) c.*3542A>G (n.*3542A>G) c.3645A>G (p.Ser1215=) c.3828A>G (p.Ser1276=) c.*481A>G (n.*481A>G) c.*489A>G (n.*489A>G) c.*2203A>G (n.*2203A>G) c.3822A>G (p.Ser1274=) c.*3652A>G (n.*3652A>G) c.3402A>G (p.Ser1134=) c.576A>G (p.Ser192=) c.1615A>G (n.1615A>G) c.410A>G c.1278A>G c.3738A>G (p.Ser1246=) c.3918A>G (p.Ser1306=) c.3585A>G (p.Ser1195=) | |
7 | g.117642548A>T | CA457228343 | CFTR | c.*37A>T (n.*37A>T) c.*3542A>T (n.*3542A>T) c.3645A>T (p.Ser1215=) c.3828A>T (p.Ser1276=) c.*481A>T (n.*481A>T) c.*489A>T (n.*489A>T) c.*2203A>T (n.*2203A>T) c.3822A>T (p.Ser1274=) c.*3652A>T (n.*3652A>T) c.3402A>T (p.Ser1134=) c.576A>T (p.Ser192=) c.1615A>T (n.1615A>T) c.410A>T c.1278A>T c.3738A>T (p.Ser1246=) c.3918A>T (p.Ser1306=) c.3585A>T (p.Ser1195=) | ClinVar |
7 | g.117642549del | CA327301 | CFTR | c.*38del (n.*38del) c.*3543del (n.*3543del) c.3646del (p.Ile1216Ter) c.3829del (p.Ile1277Ter) c.*482del (n.*482del) c.*490del (n.*490del) c.*2204del (n.*2204del) c.3823del (p.Ile1275Ter) c.*3653del (n.*3653del) c.3403del (p.Ile1135Ter) c.577del (p.Ile193Ter) c.1616del (n.1616del) c.411del c.1279del c.3739del (p.Ile1247Ter) c.3919del (p.Ile1307Ter) c.3586del (p.Ile1196Ter) | ClinVar dbSNP |
7 | g.117642549A= | CA1737404791 | CFTR | c.*38A= (n.*38A=) c.*3543A= (n.*3543A=) c.3646A= (p.Ile1216=) c.3829A= (p.Ile1277=) c.*482A= (n.*482A=) c.*490A= (n.*490A=) c.*2204A= (n.*2204A=) c.3823A= (p.Ile1275=) c.*3653A= (n.*3653A=) c.3403A= (p.Ile1135=) c.577A= (p.Ile193=) c.1616A= (n.1616A=) c.411A= c.1279A= c.3739A= (p.Ile1247=) c.3919A= (p.Ile1307=) c.3586A= (p.Ile1196=) | |
7 | g.117642549A>C | CA368975297 | CFTR | c.*38A>C (n.*38A>C) c.*3543A>C (n.*3543A>C) c.3646A>C (p.Ile1216Leu) c.3829A>C (p.Ile1277Leu) c.*482A>C (n.*482A>C) c.*490A>C (n.*490A>C) c.*2204A>C (n.*2204A>C) c.3823A>C (p.Ile1275Leu) c.*3653A>C (n.*3653A>C) c.3403A>C (p.Ile1135Leu) c.577A>C (p.Ile193Leu) c.1616A>C (n.1616A>C) c.411A>C c.1279A>C c.3739A>C (p.Ile1247Leu) c.3919A>C (p.Ile1307Leu) c.3586A>C (p.Ile1196Leu) | |
7 | g.117642549A>G | CA368975301 | CFTR | c.*38A>G (n.*38A>G) c.*3543A>G (n.*3543A>G) c.3646A>G (p.Ile1216Val) c.3829A>G (p.Ile1277Val) c.*482A>G (n.*482A>G) c.*490A>G (n.*490A>G) c.*2204A>G (n.*2204A>G) c.3823A>G (p.Ile1275Val) c.*3653A>G (n.*3653A>G) c.3403A>G (p.Ile1135Val) c.577A>G (p.Ile193Val) c.1616A>G (n.1616A>G) c.411A>G c.1279A>G c.3739A>G (p.Ile1247Val) c.3919A>G (p.Ile1307Val) c.3586A>G (p.Ile1196Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642549A>T | CA368975304 | CFTR | c.*38A>T (n.*38A>T) c.*3543A>T (n.*3543A>T) c.3646A>T (p.Ile1216Leu) c.3829A>T (p.Ile1277Leu) c.*482A>T (n.*482A>T) c.*490A>T (n.*490A>T) c.*2204A>T (n.*2204A>T) c.3823A>T (p.Ile1275Leu) c.*3653A>T (n.*3653A>T) c.3403A>T (p.Ile1135Leu) c.577A>T (p.Ile193Leu) c.1616A>T (n.1616A>T) c.411A>T c.1279A>T c.3739A>T (p.Ile1247Leu) c.3919A>T (p.Ile1307Leu) c.3586A>T (p.Ile1196Leu) | |
7 | g.117642550T>A | CA368975307 | CFTR | c.*39T>A (n.*39T>A) c.*3544T>A (n.*3544T>A) c.3647T>A (p.Ile1216Lys) c.3830T>A (p.Ile1277Lys) c.*483T>A (n.*483T>A) c.*491T>A (n.*491T>A) c.*2205T>A (n.*2205T>A) c.3824T>A (p.Ile1275Lys) c.*3654T>A (n.*3654T>A) c.3404T>A (p.Ile1135Lys) c.578T>A (p.Ile193Lys) c.1617T>A (n.1617T>A) c.412T>A c.1280T>A c.3740T>A (p.Ile1247Lys) c.3920T>A (p.Ile1307Lys) c.3587T>A (p.Ile1196Lys) | |
7 | g.117642550T>C | CA4451553 | CFTR | c.*39T>C (n.*39T>C) c.*3544T>C (n.*3544T>C) c.3647T>C (p.Ile1216Thr) c.3830T>C (p.Ile1277Thr) c.*483T>C (n.*483T>C) c.*491T>C (n.*491T>C) c.*2205T>C (n.*2205T>C) c.3824T>C (p.Ile1275Thr) c.*3654T>C (n.*3654T>C) c.3404T>C (p.Ile1135Thr) c.578T>C (p.Ile193Thr) c.1617T>C (n.1617T>C) c.412T>C c.1280T>C c.3740T>C (p.Ile1247Thr) c.3920T>C (p.Ile1307Thr) c.3587T>C (p.Ile1196Thr) | dbSNP ExAC gnomAD v2 |
7 | g.117642550T>G | CA368975315 | CFTR | c.*39T>G (n.*39T>G) c.*3544T>G (n.*3544T>G) c.3647T>G (p.Ile1216Arg) c.3830T>G (p.Ile1277Arg) c.*483T>G (n.*483T>G) c.*491T>G (n.*491T>G) c.*2205T>G (n.*2205T>G) c.3824T>G (p.Ile1275Arg) c.*3654T>G (n.*3654T>G) c.3404T>G (p.Ile1135Arg) c.578T>G (p.Ile193Arg) c.1617T>G (n.1617T>G) c.412T>G c.1280T>G c.3740T>G (p.Ile1247Arg) c.3920T>G (p.Ile1307Arg) c.3587T>G (p.Ile1196Arg) | |
7 | g.117642550T= | CA1737404792 | CFTR | c.*39T= (n.*39T=) c.*3544T= (n.*3544T=) c.3647T= (p.Ile1216=) c.3830T= (p.Ile1277=) c.*483T= (n.*483T=) c.*491T= (n.*491T=) c.*2205T= (n.*2205T=) c.3824T= (p.Ile1275=) c.*3654T= (n.*3654T=) c.3404T= (p.Ile1135=) c.578T= (p.Ile193=) c.1617T= (n.1617T=) c.412T= c.1280T= c.3740T= (p.Ile1247=) c.3920T= (p.Ile1307=) c.3587T= (p.Ile1196=) | |
7 | g.117642551A>C | CA457228354 | CFTR | c.*40A>C (n.*40A>C) c.*3545A>C (n.*3545A>C) c.3648A>C (p.Ile1216=) c.3831A>C (p.Ile1277=) c.*484A>C (n.*484A>C) c.*492A>C (n.*492A>C) c.*2206A>C (n.*2206A>C) c.3825A>C (p.Ile1275=) c.*3655A>C (n.*3655A>C) c.3405A>C (p.Ile1135=) c.579A>C (p.Ile193=) c.1618A>C (n.1618A>C) c.413A>C c.1281A>C c.3741A>C (p.Ile1247=) c.3921A>C (p.Ile1307=) c.3588A>C (p.Ile1196=) | |
7 | g.117642551A>G | CA368975318 | CFTR | c.*40A>G (n.*40A>G) c.*3545A>G (n.*3545A>G) c.3648A>G (p.Ile1216Met) c.3831A>G (p.Ile1277Met) c.*484A>G (n.*484A>G) c.*492A>G (n.*492A>G) c.*2206A>G (n.*2206A>G) c.3825A>G (p.Ile1275Met) c.*3655A>G (n.*3655A>G) c.3405A>G (p.Ile1135Met) c.579A>G (p.Ile193Met) c.1618A>G (n.1618A>G) c.413A>G c.1281A>G c.3741A>G (p.Ile1247Met) c.3921A>G (p.Ile1307Met) c.3588A>G (p.Ile1196Met) | |
7 | g.117642551A>T | CA457228355 | CFTR | c.*40A>T (n.*40A>T) c.*3545A>T (n.*3545A>T) c.3648A>T (p.Ile1216=) c.3831A>T (p.Ile1277=) c.*484A>T (n.*484A>T) c.*492A>T (n.*492A>T) c.*2206A>T (n.*2206A>T) c.3825A>T (p.Ile1275=) c.*3655A>T (n.*3655A>T) c.3405A>T (p.Ile1135=) c.579A>T (p.Ile193=) c.1618A>T (n.1618A>T) c.413A>T c.1281A>T c.3741A>T (p.Ile1247=) c.3921A>T (p.Ile1307=) c.3588A>T (p.Ile1196=) | |
7 | g.117642552A= | CA1737404793 | CFTR | c.*41A= (n.*41A=) c.*3546A= (n.*3546A=) c.3649A= (p.Thr1217=) c.3832A= (p.Thr1278=) c.*485A= (n.*485A=) c.*493A= (n.*493A=) c.*2207A= (n.*2207A=) c.3826A= (p.Thr1276=) c.*3656A= (n.*3656A=) c.3406A= (p.Thr1136=) c.580A= (p.Thr194=) c.1619A= (n.1619A=) c.414A= c.1282A= c.3742A= (p.Thr1248=) c.3922A= (p.Thr1308=) c.3589A= (p.Thr1197=) | |
7 | g.117642552A>C | CA368975327 | CFTR | c.*41A>C (n.*41A>C) c.*3546A>C (n.*3546A>C) c.3649A>C (p.Thr1217Pro) c.3832A>C (p.Thr1278Pro) c.*485A>C (n.*485A>C) c.*493A>C (n.*493A>C) c.*2207A>C (n.*2207A>C) c.3826A>C (p.Thr1276Pro) c.*3656A>C (n.*3656A>C) c.3406A>C (p.Thr1136Pro) c.580A>C (p.Thr194Pro) c.1619A>C (n.1619A>C) c.414A>C c.1282A>C c.3742A>C (p.Thr1248Pro) c.3922A>C (p.Thr1308Pro) c.3589A>C (p.Thr1197Pro) | |
7 | g.117642552A>G | CA368975330 | CFTR | c.*41A>G (n.*41A>G) c.*3546A>G (n.*3546A>G) c.3649A>G (p.Thr1217Ala) c.3832A>G (p.Thr1278Ala) c.*485A>G (n.*485A>G) c.*493A>G (n.*493A>G) c.*2207A>G (n.*2207A>G) c.3826A>G (p.Thr1276Ala) c.*3656A>G (n.*3656A>G) c.3406A>G (p.Thr1136Ala) c.580A>G (p.Thr194Ala) c.1619A>G (n.1619A>G) c.414A>G c.1282A>G c.3742A>G (p.Thr1248Ala) c.3922A>G (p.Thr1308Ala) c.3589A>G (p.Thr1197Ala) | |
7 | g.117642552A>T | CA368975335 | CFTR | c.*41A>T (n.*41A>T) c.*3546A>T (n.*3546A>T) c.3649A>T (p.Thr1217Ser) c.3832A>T (p.Thr1278Ser) c.*485A>T (n.*485A>T) c.*493A>T (n.*493A>T) c.*2207A>T (n.*2207A>T) c.3826A>T (p.Thr1276Ser) c.*3656A>T (n.*3656A>T) c.3406A>T (p.Thr1136Ser) c.580A>T (p.Thr194Ser) c.1619A>T (n.1619A>T) c.414A>T c.1282A>T c.3742A>T (p.Thr1248Ser) c.3922A>T (p.Thr1308Ser) c.3589A>T (p.Thr1197Ser) | |
7 | g.117642552_117642553insAAAC | CA577224050 | CFTR | c.*41_*42insAAAC (n.*41_*42insAAAC) c.*3546_*3547insAAAC (n.*3546_*3547insAAAC) c.3649_3650insAAAC (p.Thr1217LysfsTer25) c.3832_3833insAAAC (p.Thr1278LysfsTer?) c.*485_*486insAAAC (n.*485_*486insAAAC) c.3832_3833insAAAC (p.Thr1278LysfsTer25) c.*493_*494insAAAC (n.*493_*494insAAAC) c.*2207_*2208insAAAC (n.*2207_*2208insAAAC) c.3826_3827insAAAC (p.Thr1276LysfsTer25) c.*3656_*3657insAAAC (n.*3656_*3657insAAAC) c.3406_3407insAAAC (p.Thr1136LysfsTer25) c.580_581insAAAC (p.Thr194LysfsTer?) c.1619_1620insAAAC (n.1619_1620insAAAC) c.414_415insAAAC c.1282_1283insAAAC c.3742_3743insAAAC (p.Thr1248LysfsTer25) c.3922_3923insAAAC (p.Thr1308LysfsTer25) c.3589_3590insAAAC (p.Thr1197LysfsTer25) | dbSNP gnomAD v2 |
7 | g.117642553C>A | CA368975342 | CFTR | c.*42C>A (n.*42C>A) c.*3547C>A (n.*3547C>A) c.3650C>A (p.Thr1217Asn) c.3833C>A (p.Thr1278Asn) c.*486C>A (n.*486C>A) c.*494C>A (n.*494C>A) c.*2208C>A (n.*2208C>A) c.3827C>A (p.Thr1276Asn) c.*3657C>A (n.*3657C>A) c.3407C>A (p.Thr1136Asn) c.581C>A (p.Thr194Asn) c.1620C>A (n.1620C>A) c.415C>A c.1283C>A c.3743C>A (p.Thr1248Asn) c.3923C>A (p.Thr1308Asn) c.3590C>A (p.Thr1197Asn) | |
7 | g.117642553C>G | CA368975357 | CFTR | c.*42C>G (n.*42C>G) c.*3547C>G (n.*3547C>G) c.3650C>G (p.Thr1217Ser) c.3833C>G (p.Thr1278Ser) c.*486C>G (n.*486C>G) c.*494C>G (n.*494C>G) c.*2208C>G (n.*2208C>G) c.3827C>G (p.Thr1276Ser) c.*3657C>G (n.*3657C>G) c.3407C>G (p.Thr1136Ser) c.581C>G (p.Thr194Ser) c.1620C>G (n.1620C>G) c.415C>G c.1283C>G c.3743C>G (p.Thr1248Ser) c.3923C>G (p.Thr1308Ser) c.3590C>G (p.Thr1197Ser) | gnomAD v4 |
7 | g.117642553C>T | CA368975340 | CFTR | c.*42C>T (n.*42C>T) c.*3547C>T (n.*3547C>T) c.3650C>T (p.Thr1217Ile) c.3833C>T (p.Thr1278Ile) c.*486C>T (n.*486C>T) c.*494C>T (n.*494C>T) c.*2208C>T (n.*2208C>T) c.3827C>T (p.Thr1276Ile) c.*3657C>T (n.*3657C>T) c.3407C>T (p.Thr1136Ile) c.581C>T (p.Thr194Ile) c.1620C>T (n.1620C>T) c.415C>T c.1283C>T c.3743C>T (p.Thr1248Ile) c.3923C>T (p.Thr1308Ile) c.3590C>T (p.Thr1197Ile) | |
7 | g.117642553_117642555delinsCTT | CA1737404794 | CFTR | c.*42_*44delinsCTT (n.*42_*44delinsCTT) c.*3547_*3549delinsCTT (n.*3547_*3549delinsCTT) c.3650_3652delinsCTT (p.Thr1217=) c.3833_3835delinsCTT (p.Thr1278=) c.*486_*488delinsCTT (n.*486_*488delinsCTT) c.*494_*496delinsCTT (n.*494_*496delinsCTT) c.*2208_*2210delinsCTT (n.*2208_*2210delinsCTT) c.3827_3829delinsCTT (p.Thr1276=) c.*3657_*3659delinsCTT (n.*3657_*3659delinsCTT) c.3407_3409delinsCTT (p.Thr1136=) c.581_583delinsCTT (p.Thr194=) c.1620_1622delinsCTT (n.1620_1622delinsCTT) c.415_417delinsCTT c.1283_1285delinsCTT c.3743_3745delinsCTT (p.Thr1248=) c.3923_3925delinsCTT (p.Thr1308=) c.3590_3592delinsCTT (p.Thr1197=) | |
7 | g.117642554T>A | CA457228366 | CFTR | c.*43T>A (n.*43T>A) c.*3548T>A (n.*3548T>A) c.3651T>A (p.Thr1217=) c.3834T>A (p.Thr1278=) c.*487T>A (n.*487T>A) c.*495T>A (n.*495T>A) c.*2209T>A (n.*2209T>A) c.3828T>A (p.Thr1276=) c.*3658T>A (n.*3658T>A) c.3408T>A (p.Thr1136=) c.582T>A (p.Thr194=) c.1621T>A (n.1621T>A) c.416T>A c.1284T>A c.3744T>A (p.Thr1248=) c.3924T>A (p.Thr1308=) c.3591T>A (p.Thr1197=) | dbSNP gnomAD v2 |
7 | g.117642554T>C | CA457228367 | CFTR | c.*43T>C (n.*43T>C) c.*3548T>C (n.*3548T>C) c.3651T>C (p.Thr1217=) c.3834T>C (p.Thr1278=) c.*487T>C (n.*487T>C) c.*495T>C (n.*495T>C) c.*2209T>C (n.*2209T>C) c.3828T>C (p.Thr1276=) c.*3658T>C (n.*3658T>C) c.3408T>C (p.Thr1136=) c.582T>C (p.Thr194=) c.1621T>C (n.1621T>C) c.416T>C c.1284T>C c.3744T>C (p.Thr1248=) c.3924T>C (p.Thr1308=) c.3591T>C (p.Thr1197=) | |
7 | g.117642554T>G | CA457228369 | CFTR | c.*43T>G (n.*43T>G) c.*3548T>G (n.*3548T>G) c.3651T>G (p.Thr1217=) c.3834T>G (p.Thr1278=) c.*487T>G (n.*487T>G) c.*495T>G (n.*495T>G) c.*2209T>G (n.*2209T>G) c.3828T>G (p.Thr1276=) c.*3658T>G (n.*3658T>G) c.3408T>G (p.Thr1136=) c.582T>G (p.Thr194=) c.1621T>G (n.1621T>G) c.416T>G c.1284T>G c.3744T>G (p.Thr1248=) c.3924T>G (p.Thr1308=) c.3591T>G (p.Thr1197=) | |
7 | g.117642554T= | CA1737404795 | CFTR | c.*43T= (n.*43T=) c.*3548T= (n.*3548T=) c.3651T= (p.Thr1217=) c.3834T= (p.Thr1278=) c.*487T= (n.*487T=) c.*495T= (n.*495T=) c.*2209T= (n.*2209T=) c.3828T= (p.Thr1276=) c.*3658T= (n.*3658T=) c.3408T= (p.Thr1136=) c.582T= (p.Thr194=) c.1621T= (n.1621T=) c.416T= c.1284T= c.3744T= (p.Thr1248=) c.3924T= (p.Thr1308=) c.3591T= (p.Thr1197=) | |
7 | g.117642555_117642556del | CA577224051 | CFTR | c.*44_*45del (n.*44_*45del) c.*3549_*3550del (n.*3549_*3550del) c.3652_3653del (p.Leu1218AlafsTer22) c.3835_3836del (p.Leu1279AlafsTer?) c.*488_*489del (n.*488_*489del) c.3835_3836del (p.Leu1279AlafsTer22) c.*496_*497del (n.*496_*497del) c.*2210_*2211del (n.*2210_*2211del) c.3829_3830del (p.Leu1277AlafsTer22) c.*3659_*3660del (n.*3659_*3660del) c.3409_3410del (p.Leu1137AlafsTer22) c.583_584del (p.Leu195AlafsTer?) c.1622_1623del (n.1622_1623del) c.417_418del c.1285_1286del c.3745_3746del (p.Leu1249AlafsTer22) c.3925_3926del (p.Leu1309AlafsTer22) c.3592_3593del (p.Leu1198AlafsTer22) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117642555T>A | CA368975364 | CFTR | c.*44T>A (n.*44T>A) c.*3549T>A (n.*3549T>A) c.3652T>A (p.Leu1218Met) c.3835T>A (p.Leu1279Met) c.*488T>A (n.*488T>A) c.*496T>A (n.*496T>A) c.*2210T>A (n.*2210T>A) c.3829T>A (p.Leu1277Met) c.*3659T>A (n.*3659T>A) c.3409T>A (p.Leu1137Met) c.583T>A (p.Leu195Met) c.1622T>A (n.1622T>A) c.417T>A c.1285T>A c.3745T>A (p.Leu1249Met) c.3925T>A (p.Leu1309Met) c.3592T>A (p.Leu1198Met) | |
7 | g.117642555T>C | CA457228372 | CFTR | c.*44T>C (n.*44T>C) c.*3549T>C (n.*3549T>C) c.3652T>C (p.Leu1218=) c.3835T>C (p.Leu1279=) c.*488T>C (n.*488T>C) c.*496T>C (n.*496T>C) c.*2210T>C (n.*2210T>C) c.3829T>C (p.Leu1277=) c.*3659T>C (n.*3659T>C) c.3409T>C (p.Leu1137=) c.583T>C (p.Leu195=) c.1622T>C (n.1622T>C) c.417T>C c.1285T>C c.3745T>C (p.Leu1249=) c.3925T>C (p.Leu1309=) c.3592T>C (p.Leu1198=) | |
7 | g.117642555T>G | CA368975362 | CFTR | c.*44T>G (n.*44T>G) c.*3549T>G (n.*3549T>G) c.3652T>G (p.Leu1218Val) c.3835T>G (p.Leu1279Val) c.*488T>G (n.*488T>G) c.*496T>G (n.*496T>G) c.*2210T>G (n.*2210T>G) c.3829T>G (p.Leu1277Val) c.*3659T>G (n.*3659T>G) c.3409T>G (p.Leu1137Val) c.583T>G (p.Leu195Val) c.1622T>G (n.1622T>G) c.417T>G c.1285T>G c.3745T>G (p.Leu1249Val) c.3925T>G (p.Leu1309Val) c.3592T>G (p.Leu1198Val) | |
7 | g.117642556T>A | CA368975375 | CFTR | c.*45T>A (n.*45T>A) c.*3550T>A (n.*3550T>A) c.3653T>A (p.Leu1218Ter) c.3836T>A (p.Leu1279Ter) c.*489T>A (n.*489T>A) c.*497T>A (n.*497T>A) c.*2211T>A (n.*2211T>A) c.3830T>A (p.Leu1277Ter) c.*3660T>A (n.*3660T>A) c.3410T>A (p.Leu1137Ter) c.584T>A (p.Leu195Ter) c.1623T>A (n.1623T>A) c.418T>A c.1286T>A c.3746T>A (p.Leu1249Ter) c.3926T>A (p.Leu1309Ter) c.3593T>A (p.Leu1198Ter) | ClinVar |
7 | g.117642556T>C | CA368975369 | CFTR | c.*45T>C (n.*45T>C) c.*3550T>C (n.*3550T>C) c.3653T>C (p.Leu1218Ser) c.3836T>C (p.Leu1279Ser) c.*489T>C (n.*489T>C) c.*497T>C (n.*497T>C) c.*2211T>C (n.*2211T>C) c.3830T>C (p.Leu1277Ser) c.*3660T>C (n.*3660T>C) c.3410T>C (p.Leu1137Ser) c.584T>C (p.Leu195Ser) c.1623T>C (n.1623T>C) c.418T>C c.1286T>C c.3746T>C (p.Leu1249Ser) c.3926T>C (p.Leu1309Ser) c.3593T>C (p.Leu1198Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.117642556T>G | CA368975372 | CFTR | c.*45T>G (n.*45T>G) c.*3550T>G (n.*3550T>G) c.3653T>G (p.Leu1218Trp) c.3836T>G (p.Leu1279Trp) c.*489T>G (n.*489T>G) c.*497T>G (n.*497T>G) c.*2211T>G (n.*2211T>G) c.3830T>G (p.Leu1277Trp) c.*3660T>G (n.*3660T>G) c.3410T>G (p.Leu1137Trp) c.584T>G (p.Leu195Trp) c.1623T>G (n.1623T>G) c.418T>G c.1286T>G c.3746T>G (p.Leu1249Trp) c.3926T>G (p.Leu1309Trp) c.3593T>G (p.Leu1198Trp) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117642556T= | CA1737404796 | CFTR | c.*45T= (n.*45T=) c.*3550T= (n.*3550T=) c.3653T= (p.Leu1218=) c.3836T= (p.Leu1279=) c.*489T= (n.*489T=) c.*497T= (n.*497T=) c.*2211T= (n.*2211T=) c.3830T= (p.Leu1277=) c.*3660T= (n.*3660T=) c.3410T= (p.Leu1137=) c.584T= (p.Leu195=) c.1623T= (n.1623T=) c.418T= c.1286T= c.3746T= (p.Leu1249=) c.3926T= (p.Leu1309=) c.3593T= (p.Leu1198=) |