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.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=) | |
7 | g.117642557G>A | CA457228382 | CFTR | c.*46G>A (n.*46G>A) c.*3551G>A (n.*3551G>A) c.3654G>A (p.Leu1218=) c.3837G>A (p.Leu1279=) c.*490G>A (n.*490G>A) c.*498G>A (n.*498G>A) c.*2212G>A (n.*2212G>A) c.3831G>A (p.Leu1277=) c.*3661G>A (n.*3661G>A) c.3411G>A (p.Leu1137=) c.585G>A (p.Leu195=) c.1624G>A (n.1624G>A) c.419G>A c.1287G>A c.3747G>A (p.Leu1249=) c.3927G>A (p.Leu1309=) c.3594G>A (p.Leu1198=) | |
7 | g.117642557G>C | CA368975378 | CFTR | c.*46G>C (n.*46G>C) c.*3551G>C (n.*3551G>C) c.3654G>C (p.Leu1218Phe) c.3837G>C (p.Leu1279Phe) c.*490G>C (n.*490G>C) c.*498G>C (n.*498G>C) c.*2212G>C (n.*2212G>C) c.3831G>C (p.Leu1277Phe) c.*3661G>C (n.*3661G>C) c.3411G>C (p.Leu1137Phe) c.585G>C (p.Leu195Phe) c.1624G>C (n.1624G>C) c.419G>C c.1287G>C c.3747G>C (p.Leu1249Phe) c.3927G>C (p.Leu1309Phe) c.3594G>C (p.Leu1198Phe) | |
7 | g.117642557G>T | CA368975381 | CFTR | c.*46G>T (n.*46G>T) c.*3551G>T (n.*3551G>T) c.3654G>T (p.Leu1218Phe) c.3837G>T (p.Leu1279Phe) c.*490G>T (n.*490G>T) c.*498G>T (n.*498G>T) c.*2212G>T (n.*2212G>T) c.3831G>T (p.Leu1277Phe) c.*3661G>T (n.*3661G>T) c.3411G>T (p.Leu1137Phe) c.585G>T (p.Leu195Phe) c.1624G>T (n.1624G>T) c.419G>T c.1287G>T c.3747G>T (p.Leu1249Phe) c.3927G>T (p.Leu1309Phe) c.3594G>T (p.Leu1198Phe) | ClinVar |
7 | g.117642558C>A | CA368975386 | CFTR | c.*47C>A (n.*47C>A) c.*3552C>A (n.*3552C>A) c.3655C>A (p.Gln1219Lys) c.3838C>A (p.Gln1280Lys) c.*491C>A (n.*491C>A) c.*499C>A (n.*499C>A) c.*2213C>A (n.*2213C>A) c.3832C>A (p.Gln1278Lys) c.*3662C>A (n.*3662C>A) c.3412C>A (p.Gln1138Lys) c.586C>A (p.Gln196Lys) c.1625C>A (n.1625C>A) c.420C>A c.1288C>A c.3748C>A (p.Gln1250Lys) c.3928C>A (p.Gln1310Lys) c.3595C>A (p.Gln1199Lys) | gnomAD v4 |
7 | g.117642558C= | CA1737404797 | CFTR | c.*47C= (n.*47C=) c.*3552C= (n.*3552C=) c.3655C= (p.Gln1219=) c.3838C= (p.Gln1280=) c.*491C= (n.*491C=) c.*499C= (n.*499C=) c.*2213C= (n.*2213C=) c.3832C= (p.Gln1278=) c.*3662C= (n.*3662C=) c.3412C= (p.Gln1138=) c.586C= (p.Gln196=) c.1625C= (n.1625C=) c.420C= c.1288C= c.3748C= (p.Gln1250=) c.3928C= (p.Gln1310=) c.3595C= (p.Gln1199=) | |
7 | g.117642558C>G | CA368975388 | CFTR | c.*47C>G (n.*47C>G) c.*3552C>G (n.*3552C>G) c.3655C>G (p.Gln1219Glu) c.3838C>G (p.Gln1280Glu) c.*491C>G (n.*491C>G) c.*499C>G (n.*499C>G) c.*2213C>G (n.*2213C>G) c.3832C>G (p.Gln1278Glu) c.*3662C>G (n.*3662C>G) c.3412C>G (p.Gln1138Glu) c.586C>G (p.Gln196Glu) c.1625C>G (n.1625C>G) c.420C>G c.1288C>G c.3748C>G (p.Gln1250Glu) c.3928C>G (p.Gln1310Glu) c.3595C>G (p.Gln1199Glu) | |
7 | g.117642558C>T | CA368975391 | CFTR | c.*47C>T (n.*47C>T) c.*3552C>T (n.*3552C>T) c.3655C>T (p.Gln1219Ter) c.3838C>T (p.Gln1280Ter) c.*491C>T (n.*491C>T) c.*499C>T (n.*499C>T) c.*2213C>T (n.*2213C>T) c.3832C>T (p.Gln1278Ter) c.*3662C>T (n.*3662C>T) c.3412C>T (p.Gln1138Ter) c.586C>T (p.Gln196Ter) c.1625C>T (n.1625C>T) c.420C>T c.1288C>T c.3748C>T (p.Gln1250Ter) c.3928C>T (p.Gln1310Ter) c.3595C>T (p.Gln1199Ter) | ClinVar dbSNP |
7 | g.117642559A>C | CA368975395 | CFTR | c.*48A>C (n.*48A>C) c.*3553A>C (n.*3553A>C) c.3656A>C (p.Gln1219Pro) c.3839A>C (p.Gln1280Pro) c.*492A>C (n.*492A>C) c.*500A>C (n.*500A>C) c.*2214A>C (n.*2214A>C) c.3833A>C (p.Gln1278Pro) c.*3663A>C (n.*3663A>C) c.3413A>C (p.Gln1138Pro) c.587A>C (p.Gln196Pro) c.1626A>C (n.1626A>C) c.421A>C c.1289A>C c.3749A>C (p.Gln1250Pro) c.3929A>C (p.Gln1310Pro) c.3596A>C (p.Gln1199Pro) | |
7 | g.117642559A>G | CA368975398 | CFTR | c.*48A>G (n.*48A>G) c.*3553A>G (n.*3553A>G) c.3656A>G (p.Gln1219Arg) c.3839A>G (p.Gln1280Arg) c.*492A>G (n.*492A>G) c.*500A>G (n.*500A>G) c.*2214A>G (n.*2214A>G) c.3833A>G (p.Gln1278Arg) c.*3663A>G (n.*3663A>G) c.3413A>G (p.Gln1138Arg) c.587A>G (p.Gln196Arg) c.1626A>G (n.1626A>G) c.421A>G c.1289A>G c.3749A>G (p.Gln1250Arg) c.3929A>G (p.Gln1310Arg) c.3596A>G (p.Gln1199Arg) | |
7 | g.117642559A>T | CA368975401 | CFTR | c.*48A>T (n.*48A>T) c.*3553A>T (n.*3553A>T) c.3656A>T (p.Gln1219Leu) c.3839A>T (p.Gln1280Leu) c.*492A>T (n.*492A>T) c.*500A>T (n.*500A>T) c.*2214A>T (n.*2214A>T) c.3833A>T (p.Gln1278Leu) c.*3663A>T (n.*3663A>T) c.3413A>T (p.Gln1138Leu) c.587A>T (p.Gln196Leu) c.1626A>T (n.1626A>T) c.421A>T c.1289A>T c.3749A>T (p.Gln1250Leu) c.3929A>T (p.Gln1310Leu) c.3596A>T (p.Gln1199Leu) | |
7 | g.117642560A>C | CA368975404 | CFTR | c.*49A>C (n.*49A>C) c.*3554A>C (n.*3554A>C) c.3657A>C (p.Gln1219His) c.3840A>C (p.Gln1280His) c.*493A>C (n.*493A>C) c.*501A>C (n.*501A>C) c.*2215A>C (n.*2215A>C) c.3834A>C (p.Gln1278His) c.*3664A>C (n.*3664A>C) c.3414A>C (p.Gln1138His) c.588A>C (p.Gln196His) c.1627A>C (n.1627A>C) c.422A>C c.1290A>C c.3750A>C (p.Gln1250His) c.3930A>C (p.Gln1310His) c.3597A>C (p.Gln1199His) | |
7 | g.117642560A>G | CA457228392 | CFTR | c.*49A>G (n.*49A>G) c.*3554A>G (n.*3554A>G) c.3657A>G (p.Gln1219=) c.3840A>G (p.Gln1280=) c.*493A>G (n.*493A>G) c.*501A>G (n.*501A>G) c.*2215A>G (n.*2215A>G) c.3834A>G (p.Gln1278=) c.*3664A>G (n.*3664A>G) c.3414A>G (p.Gln1138=) c.588A>G (p.Gln196=) c.1627A>G (n.1627A>G) c.422A>G c.1290A>G c.3750A>G (p.Gln1250=) c.3930A>G (p.Gln1310=) c.3597A>G (p.Gln1199=) | ClinVar |
7 | g.117642560A>T | CA368975408 | CFTR | c.*49A>T (n.*49A>T) c.*3554A>T (n.*3554A>T) c.3657A>T (p.Gln1219His) c.3840A>T (p.Gln1280His) c.*493A>T (n.*493A>T) c.*501A>T (n.*501A>T) c.*2215A>T (n.*2215A>T) c.3834A>T (p.Gln1278His) c.*3664A>T (n.*3664A>T) c.3414A>T (p.Gln1138His) c.588A>T (p.Gln196His) c.1627A>T (n.1627A>T) c.422A>T c.1290A>T c.3750A>T (p.Gln1250His) c.3930A>T (p.Gln1310His) c.3597A>T (p.Gln1199His) | |
7 | g.117642561C>A | CA368975424 | CFTR | c.*50C>A (n.*50C>A) c.*3555C>A (n.*3555C>A) c.3658C>A (p.Gln1220Lys) c.3841C>A (p.Gln1281Lys) c.*494C>A (n.*494C>A) c.*502C>A (n.*502C>A) c.*2216C>A (n.*2216C>A) c.3835C>A (p.Gln1279Lys) c.*3665C>A (n.*3665C>A) c.3415C>A (p.Gln1139Lys) c.589C>A (p.Gln197Lys) c.1628C>A (n.1628C>A) c.423C>A c.1291C>A c.3751C>A (p.Gln1251Lys) c.3931C>A (p.Gln1311Lys) c.3598C>A (p.Gln1200Lys) | |
7 | g.117642561C= | CA1737404798 | CFTR | c.*50C= (n.*50C=) c.*3555C= (n.*3555C=) c.3658C= (p.Gln1220=) c.3841C= (p.Gln1281=) c.*494C= (n.*494C=) c.*502C= (n.*502C=) c.*2216C= (n.*2216C=) c.3835C= (p.Gln1279=) c.*3665C= (n.*3665C=) c.3415C= (p.Gln1139=) c.589C= (p.Gln197=) c.1628C= (n.1628C=) c.423C= c.1291C= c.3751C= (p.Gln1251=) c.3931C= (p.Gln1311=) c.3598C= (p.Gln1200=) | |
7 | g.117642561C>G | CA4451554 | CFTR | c.*50C>G (n.*50C>G) c.*3555C>G (n.*3555C>G) c.3658C>G (p.Gln1220Glu) c.3841C>G (p.Gln1281Glu) c.*494C>G (n.*494C>G) c.*502C>G (n.*502C>G) c.*2216C>G (n.*2216C>G) c.3835C>G (p.Gln1279Glu) c.*3665C>G (n.*3665C>G) c.3415C>G (p.Gln1139Glu) c.589C>G (p.Gln197Glu) c.1628C>G (n.1628C>G) c.423C>G c.1291C>G c.3751C>G (p.Gln1251Glu) c.3931C>G (p.Gln1311Glu) c.3598C>G (p.Gln1200Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642561C>T | CA327302 | CFTR | c.*50C>T (n.*50C>T) c.*3555C>T (n.*3555C>T) c.3658C>T (p.Gln1220Ter) c.3841C>T (p.Gln1281Ter) c.*494C>T (n.*494C>T) c.*502C>T (n.*502C>T) c.*2216C>T (n.*2216C>T) c.3835C>T (p.Gln1279Ter) c.*3665C>T (n.*3665C>T) c.3415C>T (p.Gln1139Ter) c.589C>T (p.Gln197Ter) c.1628C>T (n.1628C>T) c.423C>T c.1291C>T c.3751C>T (p.Gln1251Ter) c.3931C>T (p.Gln1311Ter) c.3598C>T (p.Gln1200Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117642562A= | CA1737404799 | CFTR | c.*51A= (n.*51A=) c.*3556A= (n.*3556A=) c.3659A= (p.Gln1220=) c.3842A= (p.Gln1281=) c.*495A= (n.*495A=) c.*503A= (n.*503A=) c.*2217A= (n.*2217A=) c.3836A= (p.Gln1279=) c.*3666A= (n.*3666A=) c.3416A= (p.Gln1139=) c.590A= (p.Gln197=) c.1629A= (n.1629A=) c.424A= c.1292A= c.3752A= (p.Gln1251=) c.3932A= (p.Gln1311=) c.3599A= (p.Gln1200=) | |
7 | g.117642562A>C | CA368975428 | CFTR | c.*51A>C (n.*51A>C) c.*3556A>C (n.*3556A>C) c.3659A>C (p.Gln1220Pro) c.3842A>C (p.Gln1281Pro) c.*495A>C (n.*495A>C) c.*503A>C (n.*503A>C) c.*2217A>C (n.*2217A>C) c.3836A>C (p.Gln1279Pro) c.*3666A>C (n.*3666A>C) c.3416A>C (p.Gln1139Pro) c.590A>C (p.Gln197Pro) c.1629A>C (n.1629A>C) c.424A>C c.1292A>C c.3752A>C (p.Gln1251Pro) c.3932A>C (p.Gln1311Pro) c.3599A>C (p.Gln1200Pro) | ClinVar |
7 | g.117642562A>G | CA4451555 | CFTR | c.*51A>G (n.*51A>G) c.*3556A>G (n.*3556A>G) c.3659A>G (p.Gln1220Arg) c.3842A>G (p.Gln1281Arg) c.*495A>G (n.*495A>G) c.*503A>G (n.*503A>G) c.*2217A>G (n.*2217A>G) c.3836A>G (p.Gln1279Arg) c.*3666A>G (n.*3666A>G) c.3416A>G (p.Gln1139Arg) c.590A>G (p.Gln197Arg) c.1629A>G (n.1629A>G) c.424A>G c.1292A>G c.3752A>G (p.Gln1251Arg) c.3932A>G (p.Gln1311Arg) c.3599A>G (p.Gln1200Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117642562A>T | CA368975435 | CFTR | c.*51A>T (n.*51A>T) c.*3556A>T (n.*3556A>T) c.3659A>T (p.Gln1220Leu) c.3842A>T (p.Gln1281Leu) c.*495A>T (n.*495A>T) c.*503A>T (n.*503A>T) c.*2217A>T (n.*2217A>T) c.3836A>T (p.Gln1279Leu) c.*3666A>T (n.*3666A>T) c.3416A>T (p.Gln1139Leu) c.590A>T (p.Gln197Leu) c.1629A>T (n.1629A>T) c.424A>T c.1292A>T c.3752A>T (p.Gln1251Leu) c.3932A>T (p.Gln1311Leu) c.3599A>T (p.Gln1200Leu) | |
7 | g.117642563G>A | CA457228401 | CFTR | c.*52G>A (n.*52G>A) c.*3557G>A (n.*3557G>A) c.3660G>A (p.Gln1220=) c.3843G>A (p.Gln1281=) c.*496G>A (n.*496G>A) c.*504G>A (n.*504G>A) c.*2218G>A (n.*2218G>A) c.3837G>A (p.Gln1279=) c.*3667G>A (n.*3667G>A) c.3417G>A (p.Gln1139=) c.591G>A (p.Gln197=) c.1630G>A (n.1630G>A) c.425G>A c.1293G>A c.3753G>A (p.Gln1251=) c.3933G>A (p.Gln1311=) c.3600G>A (p.Gln1200=) | ClinVar |
7 | g.117642563G>C | CA368975439 | CFTR | c.*52G>C (n.*52G>C) c.*3557G>C (n.*3557G>C) c.3660G>C (p.Gln1220His) c.3843G>C (p.Gln1281His) c.*496G>C (n.*496G>C) c.*504G>C (n.*504G>C) c.*2218G>C (n.*2218G>C) c.3837G>C (p.Gln1279His) c.*3667G>C (n.*3667G>C) c.3417G>C (p.Gln1139His) c.591G>C (p.Gln197His) c.1630G>C (n.1630G>C) c.425G>C c.1293G>C c.3753G>C (p.Gln1251His) c.3933G>C (p.Gln1311His) c.3600G>C (p.Gln1200His) | |
7 | g.117642563G>T | CA368975442 | CFTR | c.*52G>T (n.*52G>T) c.*3557G>T (n.*3557G>T) c.3660G>T (p.Gln1220His) c.3843G>T (p.Gln1281His) c.*496G>T (n.*496G>T) c.*504G>T (n.*504G>T) c.*2218G>T (n.*2218G>T) c.3837G>T (p.Gln1279His) c.*3667G>T (n.*3667G>T) c.3417G>T (p.Gln1139His) c.591G>T (p.Gln197His) c.1630G>T (n.1630G>T) c.425G>T c.1293G>T c.3753G>T (p.Gln1251His) c.3933G>T (p.Gln1311His) c.3600G>T (p.Gln1200His) | |
7 | g.117642564T>A | CA368975447 | CFTR | c.*53T>A (n.*53T>A) c.*3558T>A (n.*3558T>A) c.3661T>A (p.Trp1221Arg) c.3844T>A (p.Trp1282Arg) c.*497T>A (n.*497T>A) c.*505T>A (n.*505T>A) c.*2219T>A (n.*2219T>A) c.3838T>A (p.Trp1280Arg) c.*3668T>A (n.*3668T>A) c.3418T>A (p.Trp1140Arg) c.592T>A (p.Trp198Arg) c.1631T>A (n.1631T>A) c.426T>A c.1294T>A c.3754T>A (p.Trp1252Arg) c.3934T>A (p.Trp1312Arg) c.3601T>A (p.Trp1201Arg) | |
7 | g.117642564T>C | CA327304 | CFTR | c.*53T>C (n.*53T>C) c.*3558T>C (n.*3558T>C) c.3661T>C (p.Trp1221Arg) c.3844T>C (p.Trp1282Arg) c.*497T>C (n.*497T>C) c.*505T>C (n.*505T>C) c.*2219T>C (n.*2219T>C) c.3838T>C (p.Trp1280Arg) c.*3668T>C (n.*3668T>C) c.3418T>C (p.Trp1140Arg) c.592T>C (p.Trp198Arg) c.1631T>C (n.1631T>C) c.426T>C c.1294T>C c.3754T>C (p.Trp1252Arg) c.3934T>C (p.Trp1312Arg) c.3601T>C (p.Trp1201Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117642564T>G | CA327305 | CFTR | c.*53T>G (n.*53T>G) c.*3558T>G (n.*3558T>G) c.3661T>G (p.Trp1221Gly) c.3844T>G (p.Trp1282Gly) c.*497T>G (n.*497T>G) c.*505T>G (n.*505T>G) c.*2219T>G (n.*2219T>G) c.3838T>G (p.Trp1280Gly) c.*3668T>G (n.*3668T>G) c.3418T>G (p.Trp1140Gly) c.592T>G (p.Trp198Gly) c.1631T>G (n.1631T>G) c.426T>G c.1294T>G c.3754T>G (p.Trp1252Gly) c.3934T>G (p.Trp1312Gly) c.3601T>G (p.Trp1201Gly) | ClinVar dbSNP |
7 | g.117642564T= | CA1737404800 | CFTR | c.*53T= (n.*53T=) c.*3558T= (n.*3558T=) c.3661T= (p.Trp1221=) c.3844T= (p.Trp1282=) c.*497T= (n.*497T=) c.*505T= (n.*505T=) c.*2219T= (n.*2219T=) c.3838T= (p.Trp1280=) c.*3668T= (n.*3668T=) c.3418T= (p.Trp1140=) c.592T= (p.Trp198=) c.1631T= (n.1631T=) c.426T= c.1294T= c.3754T= (p.Trp1252=) c.3934T= (p.Trp1312=) c.3601T= (p.Trp1201=) | |
7 | g.117642565G>A | CA368975455 | CFTR | c.*54G>A (n.*54G>A) c.*3559G>A (n.*3559G>A) c.3662G>A (p.Trp1221Ter) c.3845G>A (p.Trp1282Ter) c.*498G>A (n.*498G>A) c.*506G>A (n.*506G>A) c.*2220G>A (n.*2220G>A) c.3839G>A (p.Trp1280Ter) c.*3669G>A (n.*3669G>A) c.3419G>A (p.Trp1140Ter) c.593G>A (p.Trp198Ter) c.1632G>A (n.1632G>A) c.427G>A c.1295G>A c.3755G>A (p.Trp1252Ter) c.3935G>A (p.Trp1312Ter) c.3602G>A (p.Trp1201Ter) | ClinVar dbSNP |
7 | g.117642565G>C | CA368975457 | CFTR | c.*54G>C (n.*54G>C) c.*3559G>C (n.*3559G>C) c.3662G>C (p.Trp1221Ser) c.3845G>C (p.Trp1282Ser) c.*498G>C (n.*498G>C) c.*506G>C (n.*506G>C) c.*2220G>C (n.*2220G>C) c.3839G>C (p.Trp1280Ser) c.*3669G>C (n.*3669G>C) c.3419G>C (p.Trp1140Ser) c.593G>C (p.Trp198Ser) c.1632G>C (n.1632G>C) c.427G>C c.1295G>C c.3755G>C (p.Trp1252Ser) c.3935G>C (p.Trp1312Ser) c.3602G>C (p.Trp1201Ser) | |
7 | g.117642565G= | CA1737404801 | CFTR | c.*54G= (n.*54G=) c.*3559G= (n.*3559G=) c.3662G= (p.Trp1221=) c.3845G= (p.Trp1282=) c.*498G= (n.*498G=) c.*506G= (n.*506G=) c.*2220G= (n.*2220G=) c.3839G= (p.Trp1280=) c.*3669G= (n.*3669G=) c.3419G= (p.Trp1140=) c.593G= (p.Trp198=) c.1632G= (n.1632G=) c.427G= c.1295G= c.3755G= (p.Trp1252=) c.3935G= (p.Trp1312=) c.3602G= (p.Trp1201=) | |
7 | g.117642565G>T | CA368975461 | CFTR | c.*54G>T (n.*54G>T) c.*3559G>T (n.*3559G>T) c.3662G>T (p.Trp1221Leu) c.3845G>T (p.Trp1282Leu) c.*498G>T (n.*498G>T) c.*506G>T (n.*506G>T) c.*2220G>T (n.*2220G>T) c.3839G>T (p.Trp1280Leu) c.*3669G>T (n.*3669G>T) c.3419G>T (p.Trp1140Leu) c.593G>T (p.Trp198Leu) c.1632G>T (n.1632G>T) c.427G>T c.1295G>T c.3755G>T (p.Trp1252Leu) c.3935G>T (p.Trp1312Leu) c.3602G>T (p.Trp1201Leu) | |
7 | g.117642566G>A | CA340638 | CFTR | c.*55G>A (n.*55G>A) c.*3560G>A (n.*3560G>A) c.3663G>A (p.Trp1221Ter) c.3846G>A (p.Trp1282Ter) c.*499G>A (n.*499G>A) c.*507G>A (n.*507G>A) c.*2221G>A (n.*2221G>A) c.3840G>A (p.Trp1280Ter) c.*3670G>A (n.*3670G>A) c.3420G>A (p.Trp1140Ter) c.594G>A (p.Trp198Ter) c.1633G>A (n.1633G>A) c.428G>A c.1296G>A c.3756G>A (p.Trp1252Ter) c.3936G>A (p.Trp1312Ter) c.3603G>A (p.Trp1201Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.[117642566G>A;117642568G>T] | CA2573102336 | CFTR | c.[*55G>A;*57G>T] (n.[*55G>A;*57G>T]) c.[*3560G>A;*3562G>T] (n.[*3560G>A;*3562G>T]) c.[3663G>A;3665G>T] (p.Trp1221Ter) c.[3846G>A;3848G>T] (p.Trp1282Ter) c.[*499G>A;*501G>T] (n.[*499G>A;*501G>T]) c.[*507G>A;*509G>T] (n.[*507G>A;*509G>T]) c.[*2221G>A;*2223G>T] (n.[*2221G>A;*2223G>T]) c.[3840G>A;3842G>T] (p.Trp1280Ter) c.[*3670G>A;*3672G>T] (n.[*3670G>A;*3672G>T]) c.[3420G>A;3422G>T] (p.Trp1140Ter) c.[594G>A;596G>T] (p.Trp198Ter) c.[1633G>A;1635G>T] (n.[1633G>A;1635G>T]) c.[428G>A;430G>T] c.[1296G>A;1298G>T] c.[3756G>A;3758G>T] (p.Trp1252Ter) c.[3936G>A;3938G>T] (p.Trp1312Ter) c.[3603G>A;3605G>T] (p.Trp1201Ter) | |
7 | g.117642566G>C | CA4451556 | CFTR | c.*55G>C (n.*55G>C) c.*3560G>C (n.*3560G>C) c.3663G>C (p.Trp1221Cys) c.3846G>C (p.Trp1282Cys) c.*499G>C (n.*499G>C) c.*507G>C (n.*507G>C) c.*2221G>C (n.*2221G>C) c.3840G>C (p.Trp1280Cys) c.*3670G>C (n.*3670G>C) c.3420G>C (p.Trp1140Cys) c.594G>C (p.Trp198Cys) c.1633G>C (n.1633G>C) c.428G>C c.1296G>C c.3756G>C (p.Trp1252Cys) c.3936G>C (p.Trp1312Cys) c.3603G>C (p.Trp1201Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642566G= | CA1737404802 | CFTR | c.*55G= (n.*55G=) c.*3560G= (n.*3560G=) c.3663G= (p.Trp1221=) c.3846G= (p.Trp1282=) c.*499G= (n.*499G=) c.*507G= (n.*507G=) c.*2221G= (n.*2221G=) c.3840G= (p.Trp1280=) c.*3670G= (n.*3670G=) c.3420G= (p.Trp1140=) c.594G= (p.Trp198=) c.1633G= (n.1633G=) c.428G= c.1296G= c.3756G= (p.Trp1252=) c.3936G= (p.Trp1312=) c.3603G= (p.Trp1201=) | |
7 | g.117642566G>T | CA368975464 | CFTR | c.*55G>T (n.*55G>T) c.*3560G>T (n.*3560G>T) c.3663G>T (p.Trp1221Cys) c.3846G>T (p.Trp1282Cys) c.*499G>T (n.*499G>T) c.*507G>T (n.*507G>T) c.*2221G>T (n.*2221G>T) c.3840G>T (p.Trp1280Cys) c.*3670G>T (n.*3670G>T) c.3420G>T (p.Trp1140Cys) c.594G>T (p.Trp198Cys) c.1633G>T (n.1633G>T) c.428G>T c.1296G>T c.3756G>T (p.Trp1252Cys) c.3936G>T (p.Trp1312Cys) c.3603G>T (p.Trp1201Cys) | |
7 | g.117642567A>C | CA457228427 | CFTR | c.*56A>C (n.*56A>C) c.*3561A>C (n.*3561A>C) c.3664A>C (p.Arg1222=) c.3847A>C (p.Arg1283=) c.*500A>C (n.*500A>C) c.*508A>C (n.*508A>C) c.*2222A>C (n.*2222A>C) c.3841A>C (p.Arg1281=) c.*3671A>C (n.*3671A>C) c.3421A>C (p.Arg1141=) c.595A>C (p.Arg199=) c.1634A>C (n.1634A>C) c.429A>C c.1297A>C c.3757A>C (p.Arg1253=) c.3937A>C (p.Arg1313=) c.3604A>C (p.Arg1202=) | COSMIC |
7 | g.117642567A>G | CA368975474 | CFTR | c.*56A>G (n.*56A>G) c.*3561A>G (n.*3561A>G) c.3664A>G (p.Arg1222Gly) c.3847A>G (p.Arg1283Gly) c.*500A>G (n.*500A>G) c.*508A>G (n.*508A>G) c.*2222A>G (n.*2222A>G) c.3841A>G (p.Arg1281Gly) c.*3671A>G (n.*3671A>G) c.3421A>G (p.Arg1141Gly) c.595A>G (p.Arg199Gly) c.1634A>G (n.1634A>G) c.429A>G c.1297A>G c.3757A>G (p.Arg1253Gly) c.3937A>G (p.Arg1313Gly) c.3604A>G (p.Arg1202Gly) | gnomAD v4 |
7 | g.117642567A>T | CA368975476 | CFTR | c.*56A>T (n.*56A>T) c.*3561A>T (n.*3561A>T) c.3664A>T (p.Arg1222Trp) c.3847A>T (p.Arg1283Trp) c.*500A>T (n.*500A>T) c.*508A>T (n.*508A>T) c.*2222A>T (n.*2222A>T) c.3841A>T (p.Arg1281Trp) c.*3671A>T (n.*3671A>T) c.3421A>T (p.Arg1141Trp) c.595A>T (p.Arg199Trp) c.1634A>T (n.1634A>T) c.429A>T c.1297A>T c.3757A>T (p.Arg1253Trp) c.3937A>T (p.Arg1313Trp) c.3604A>T (p.Arg1202Trp) | |
7 | g.117642568_117642571del | CA577224055 | CFTR | c.*57_*60del (n.*57_*60del) c.*3562_*3565del (n.*3562_*3565del) c.3665_3668del (p.Arg1222LysfsTer5) c.3848_3851del (p.Arg1283LysfsTer5) c.*501_*504del (n.*501_*504del) c.*509_*512del (n.*509_*512del) c.*2223_*2226del (n.*2223_*2226del) c.3842_3845del (p.Arg1281LysfsTer5) c.*3672_*3675del (n.*3672_*3675del) c.3422_3425del (p.Arg1141LysfsTer5) c.596_599del (p.Arg199LysfsTer5) c.1635_1638del (n.1635_1638del) c.430_433del c.1298_1301del c.3758_3761del (p.Arg1253LysfsTer5) c.3938_3941del (p.Arg1313LysfsTer5) c.3605_3608del (p.Arg1202LysfsTer5) | gnomAD v2 |
7 | g.117642568G>A | CA327307 | CFTR | c.*57G>A (n.*57G>A) c.*3562G>A (n.*3562G>A) c.3665G>A (p.Arg1222Lys) c.3848G>A (p.Arg1283Lys) c.*501G>A (n.*501G>A) c.*509G>A (n.*509G>A) c.*2223G>A (n.*2223G>A) c.3842G>A (p.Arg1281Lys) c.*3672G>A (n.*3672G>A) c.3422G>A (p.Arg1141Lys) c.596G>A (p.Arg199Lys) c.1635G>A (n.1635G>A) c.430G>A c.1298G>A c.3758G>A (p.Arg1253Lys) c.3938G>A (p.Arg1313Lys) c.3605G>A (p.Arg1202Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117642568G>C | CA368975480 | CFTR | c.*57G>C (n.*57G>C) c.*3562G>C (n.*3562G>C) c.3665G>C (p.Arg1222Thr) c.3848G>C (p.Arg1283Thr) c.*501G>C (n.*501G>C) c.*509G>C (n.*509G>C) c.*2223G>C (n.*2223G>C) c.3842G>C (p.Arg1281Thr) c.*3672G>C (n.*3672G>C) c.3422G>C (p.Arg1141Thr) c.596G>C (p.Arg199Thr) c.1635G>C (n.1635G>C) c.430G>C c.1298G>C c.3758G>C (p.Arg1253Thr) c.3938G>C (p.Arg1313Thr) c.3605G>C (p.Arg1202Thr) | dbSNP |
7 | g.117642568G= | CA1737404803 | CFTR | c.*57G= (n.*57G=) c.*3562G= (n.*3562G=) c.3665G= (p.Arg1222=) c.3848G= (p.Arg1283=) c.*501G= (n.*501G=) c.*509G= (n.*509G=) c.*2223G= (n.*2223G=) c.3842G= (p.Arg1281=) c.*3672G= (n.*3672G=) c.3422G= (p.Arg1141=) c.596G= (p.Arg199=) c.1635G= (n.1635G=) c.430G= c.1298G= c.3758G= (p.Arg1253=) c.3938G= (p.Arg1313=) c.3605G= (p.Arg1202=) | |
7 | g.117642568G>T | CA325559 | CFTR | c.*57G>T (n.*57G>T) c.*3562G>T (n.*3562G>T) c.3665G>T (p.Arg1222Met) c.3848G>T (p.Arg1283Met) c.*501G>T (n.*501G>T) c.*509G>T (n.*509G>T) c.*2223G>T (n.*2223G>T) c.3842G>T (p.Arg1281Met) c.*3672G>T (n.*3672G>T) c.3422G>T (p.Arg1141Met) c.596G>T (p.Arg199Met) c.1635G>T (n.1635G>T) c.430G>T c.1298G>T c.3758G>T (p.Arg1253Met) c.3938G>T (p.Arg1313Met) c.3605G>T (p.Arg1202Met) | ClinVar dbSNP gnomAD v4 |
7 | g.117642569G>A | CA457228437 | CFTR | c.*58G>A (n.*58G>A) c.*3563G>A (n.*3563G>A) c.3666G>A (p.Arg1222=) c.3849G>A (p.Arg1283=) c.*502G>A (n.*502G>A) c.*510G>A (n.*510G>A) c.*2224G>A (n.*2224G>A) c.3843G>A (p.Arg1281=) c.*3673G>A (n.*3673G>A) c.3423G>A (p.Arg1141=) c.597G>A (p.Arg199=) c.1636G>A (n.1636G>A) c.431G>A c.1299G>A c.3759G>A (p.Arg1253=) c.3939G>A (p.Arg1313=) c.3606G>A (p.Arg1202=) | ClinVar COSMIC |
7 | g.117642569G>C | CA368975486 | CFTR | c.*58G>C (n.*58G>C) c.*3563G>C (n.*3563G>C) c.3666G>C (p.Arg1222Ser) c.3849G>C (p.Arg1283Ser) c.*502G>C (n.*502G>C) c.*510G>C (n.*510G>C) c.*2224G>C (n.*2224G>C) c.3843G>C (p.Arg1281Ser) c.*3673G>C (n.*3673G>C) c.3423G>C (p.Arg1141Ser) c.597G>C (p.Arg199Ser) c.1636G>C (n.1636G>C) c.431G>C c.1299G>C c.3759G>C (p.Arg1253Ser) c.3939G>C (p.Arg1313Ser) c.3606G>C (p.Arg1202Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.117642569G= | CA1737404804 | CFTR | c.*58G= (n.*58G=) c.*3563G= (n.*3563G=) c.3666G= (p.Arg1222=) c.3849G= (p.Arg1283=) c.*502G= (n.*502G=) c.*510G= (n.*510G=) c.*2224G= (n.*2224G=) c.3843G= (p.Arg1281=) c.*3673G= (n.*3673G=) c.3423G= (p.Arg1141=) c.597G= (p.Arg199=) c.1636G= (n.1636G=) c.431G= c.1299G= c.3759G= (p.Arg1253=) c.3939G= (p.Arg1313=) c.3606G= (p.Arg1202=) | |
7 | g.117642569G>T | CA368975489 | CFTR | c.*58G>T (n.*58G>T) c.*3563G>T (n.*3563G>T) c.3666G>T (p.Arg1222Ser) c.3849G>T (p.Arg1283Ser) c.*502G>T (n.*502G>T) c.*510G>T (n.*510G>T) c.*2224G>T (n.*2224G>T) c.3843G>T (p.Arg1281Ser) c.*3673G>T (n.*3673G>T) c.3423G>T (p.Arg1141Ser) c.597G>T (p.Arg199Ser) c.1636G>T (n.1636G>T) c.431G>T c.1299G>T c.3759G>T (p.Arg1253Ser) c.3939G>T (p.Arg1313Ser) c.3606G>T (p.Arg1202Ser) | |
7 | g.117642570A>C | CA368975493 | CFTR | c.*59A>C (n.*59A>C) c.*3564A>C (n.*3564A>C) c.3667A>C (p.Lys1223Gln) c.3850A>C (p.Lys1284Gln) c.*503A>C (n.*503A>C) c.*511A>C (n.*511A>C) c.*2225A>C (n.*2225A>C) c.3844A>C (p.Lys1282Gln) c.*3674A>C (n.*3674A>C) c.3424A>C (p.Lys1142Gln) c.598A>C (p.Lys200Gln) c.1637A>C (n.1637A>C) c.432A>C c.1300A>C c.3760A>C (p.Lys1254Gln) c.3940A>C (p.Lys1314Gln) c.3607A>C (p.Lys1203Gln) | |
7 | g.117642570A>G | CA368975502 | CFTR | c.*59A>G (n.*59A>G) c.*3564A>G (n.*3564A>G) c.3667A>G (p.Lys1223Glu) c.3850A>G (p.Lys1284Glu) c.*503A>G (n.*503A>G) c.*511A>G (n.*511A>G) c.*2225A>G (n.*2225A>G) c.3844A>G (p.Lys1282Glu) c.*3674A>G (n.*3674A>G) c.3424A>G (p.Lys1142Glu) c.598A>G (p.Lys200Glu) c.1637A>G (n.1637A>G) c.432A>G c.1300A>G c.3760A>G (p.Lys1254Glu) c.3940A>G (p.Lys1314Glu) c.3607A>G (p.Lys1203Glu) | |
7 | g.117642570A>T | CA368975498 | CFTR | c.*59A>T (n.*59A>T) c.*3564A>T (n.*3564A>T) c.3667A>T (p.Lys1223Ter) c.3850A>T (p.Lys1284Ter) c.*503A>T (n.*503A>T) c.*511A>T (n.*511A>T) c.*2225A>T (n.*2225A>T) c.3844A>T (p.Lys1282Ter) c.*3674A>T (n.*3674A>T) c.3424A>T (p.Lys1142Ter) c.598A>T (p.Lys200Ter) c.1637A>T (n.1637A>T) c.432A>T c.1300A>T c.3760A>T (p.Lys1254Ter) c.3940A>T (p.Lys1314Ter) c.3607A>T (p.Lys1203Ter) | |
7 | g.117642571_117642572dup | CA16041138 | CFTR | c.*60_*61dup (n.*60_*61dup) c.*3565_*3566dup (n.*3565_*3566dup) c.3668_3669dup (p.Ala1224LysfsTer5) c.3851_3852dup (p.Ala1285LysfsTer5) c.*504_*505dup (n.*504_*505dup) c.*512_*513dup (n.*512_*513dup) c.*2226_*2227dup (n.*2226_*2227dup) c.3845_3846dup (p.Ala1283LysfsTer5) c.*3675_*3676dup (n.*3675_*3676dup) c.3425_3426dup (p.Ala1143LysfsTer5) c.599_600dup (p.Ala201LysfsTer5) c.1638_1639dup (n.1638_1639dup) c.433_434dup c.1301_1302dup c.3761_3762dup (p.Ala1255LysfsTer5) c.3941_3942dup (p.Ala1315LysfsTer5) c.3608_3609dup (p.Ala1204LysfsTer5) | ClinVar dbSNP |
7 | g.117642570_117642575delinsAAAGCC | CA1737404805 | CFTR | c.*59_*64delinsAAAGCC (n.*59_*64delinsAAAGCC) c.*3564_*3569delinsAAAGCC (n.*3564_*3569delinsAAAGCC) c.3667_3672delinsAAAGCC (p.Lys1223=) c.3850_3855delinsAAAGCC (p.Lys1284=) c.*503_*508delinsAAAGCC (n.*503_*508delinsAAAGCC) c.*511_*516delinsAAAGCC (n.*511_*516delinsAAAGCC) c.*2225_*2230delinsAAAGCC (n.*2225_*2230delinsAAAGCC) c.3844_3849delinsAAAGCC (p.Lys1282=) c.*3674_*3679delinsAAAGCC (n.*3674_*3679delinsAAAGCC) c.3424_3429delinsAAAGCC (p.Lys1142=) c.598_603delinsAAAGCC (p.Lys200=) c.1637_1642delinsAAAGCC (n.1637_1642delinsAAAGCC) c.432_437delinsAAAGCC c.1300_1305delinsAAAGCC c.3760_3765delinsAAAGCC (p.Lys1254=) c.3940_3945delinsAAAGCC (p.Lys1314=) c.3607_3612delinsAAAGCC (p.Lys1203=) | |
7 | g.117642571A>C | CA368975505 | CFTR | c.*60A>C (n.*60A>C) c.*3565A>C (n.*3565A>C) c.3668A>C (p.Lys1223Thr) c.3851A>C (p.Lys1284Thr) c.*504A>C (n.*504A>C) c.*512A>C (n.*512A>C) c.*2226A>C (n.*2226A>C) c.3845A>C (p.Lys1282Thr) c.*3675A>C (n.*3675A>C) c.3425A>C (p.Lys1142Thr) c.599A>C (p.Lys200Thr) c.1638A>C (n.1638A>C) c.433A>C c.1301A>C c.3761A>C (p.Lys1254Thr) c.3941A>C (p.Lys1314Thr) c.3608A>C (p.Lys1203Thr) | |
7 | g.117642571A>G | CA368975509 | CFTR | c.*60A>G (n.*60A>G) c.*3565A>G (n.*3565A>G) c.3668A>G (p.Lys1223Arg) c.3851A>G (p.Lys1284Arg) c.*504A>G (n.*504A>G) c.*512A>G (n.*512A>G) c.*2226A>G (n.*2226A>G) c.3845A>G (p.Lys1282Arg) c.*3675A>G (n.*3675A>G) c.3425A>G (p.Lys1142Arg) c.599A>G (p.Lys200Arg) c.1638A>G (n.1638A>G) c.433A>G c.1301A>G c.3761A>G (p.Lys1254Arg) c.3941A>G (p.Lys1314Arg) c.3608A>G (p.Lys1203Arg) | ClinVar dbSNP |
7 | g.117642571A>T | CA368975513 | CFTR | c.*60A>T (n.*60A>T) c.*3565A>T (n.*3565A>T) c.3668A>T (p.Lys1223Ile) c.3851A>T (p.Lys1284Ile) c.*504A>T (n.*504A>T) c.*512A>T (n.*512A>T) c.*2226A>T (n.*2226A>T) c.3845A>T (p.Lys1282Ile) c.*3675A>T (n.*3675A>T) c.3425A>T (p.Lys1142Ile) c.599A>T (p.Lys200Ile) c.1638A>T (n.1638A>T) c.433A>T c.1301A>T c.3761A>T (p.Lys1254Ile) c.3941A>T (p.Lys1314Ile) c.3608A>T (p.Lys1203Ile) | |
7 | g.117642571_117642575del | CA577224058 | CFTR | c.*60_*64del (n.*60_*64del) c.*3565_*3569del (n.*3565_*3569del) c.3668_3672del (p.Lys1223IlefsTer16) c.3851_3855del (p.Lys1284IlefsTer?) c.*504_*508del (n.*504_*508del) c.3851_3855del (p.Lys1284IlefsTer16) c.*512_*516del (n.*512_*516del) c.*2226_*2230del (n.*2226_*2230del) c.3845_3849del (p.Lys1282IlefsTer16) c.*3675_*3679del (n.*3675_*3679del) c.3425_3429del (p.Lys1142IlefsTer16) c.599_603del (p.Lys200IlefsTer?) c.1638_1642del (n.1638_1642del) c.433_437del c.1301_1305del c.3761_3765del (p.Lys1254IlefsTer16) c.3941_3945del (p.Lys1314IlefsTer16) c.3608_3612del (p.Lys1203IlefsTer16) | dbSNP gnomAD v2 |
7 | g.117642572A= | CA1737404806 | CFTR | c.*61A= (n.*61A=) c.*3566A= (n.*3566A=) c.3669A= (p.Lys1223=) c.3852A= (p.Lys1284=) c.*505A= (n.*505A=) c.*513A= (n.*513A=) c.*2227A= (n.*2227A=) c.3846A= (p.Lys1282=) c.*3676A= (n.*3676A=) c.3426A= (p.Lys1142=) c.600A= (p.Lys200=) c.1639A= (n.1639A=) c.434A= c.1302A= c.3762A= (p.Lys1254=) c.3942A= (p.Lys1314=) c.3609A= (p.Lys1203=) | |
7 | g.117642572A>C | CA368975516 | CFTR | c.*61A>C (n.*61A>C) c.*3566A>C (n.*3566A>C) c.3669A>C (p.Lys1223Asn) c.3852A>C (p.Lys1284Asn) c.*505A>C (n.*505A>C) c.*513A>C (n.*513A>C) c.*2227A>C (n.*2227A>C) c.3846A>C (p.Lys1282Asn) c.*3676A>C (n.*3676A>C) c.3426A>C (p.Lys1142Asn) c.600A>C (p.Lys200Asn) c.1639A>C (n.1639A>C) c.434A>C c.1302A>C c.3762A>C (p.Lys1254Asn) c.3942A>C (p.Lys1314Asn) c.3609A>C (p.Lys1203Asn) | |
7 | g.117642572A>G | CA4451557 | CFTR | c.*61A>G (n.*61A>G) c.*3566A>G (n.*3566A>G) c.3669A>G (p.Lys1223=) c.3852A>G (p.Lys1284=) c.*505A>G (n.*505A>G) c.*513A>G (n.*513A>G) c.*2227A>G (n.*2227A>G) c.3846A>G (p.Lys1282=) c.*3676A>G (n.*3676A>G) c.3426A>G (p.Lys1142=) c.600A>G (p.Lys200=) c.1639A>G (n.1639A>G) c.434A>G c.1302A>G c.3762A>G (p.Lys1254=) c.3942A>G (p.Lys1314=) c.3609A>G (p.Lys1203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642572A>T | CA368975517 | CFTR | c.*61A>T (n.*61A>T) c.*3566A>T (n.*3566A>T) c.3669A>T (p.Lys1223Asn) c.3852A>T (p.Lys1284Asn) c.*505A>T (n.*505A>T) c.*513A>T (n.*513A>T) c.*2227A>T (n.*2227A>T) c.3846A>T (p.Lys1282Asn) c.*3676A>T (n.*3676A>T) c.3426A>T (p.Lys1142Asn) c.600A>T (p.Lys200Asn) c.1639A>T (n.1639A>T) c.434A>T c.1302A>T c.3762A>T (p.Lys1254Asn) c.3942A>T (p.Lys1314Asn) c.3609A>T (p.Lys1203Asn) | gnomAD v4 |
7 | g.117642573G>A | CA164947691 | CFTR | c.*62G>A (n.*62G>A) c.*3567G>A (n.*3567G>A) c.3670G>A (p.Ala1224Thr) c.3853G>A (p.Ala1285Thr) c.*506G>A (n.*506G>A) c.*514G>A (n.*514G>A) c.*2228G>A (n.*2228G>A) c.3847G>A (p.Ala1283Thr) c.*3677G>A (n.*3677G>A) c.3427G>A (p.Ala1143Thr) c.601G>A (p.Ala201Thr) c.1640G>A (n.1640G>A) c.435G>A c.1303G>A c.3763G>A (p.Ala1255Thr) c.3943G>A (p.Ala1315Thr) c.3610G>A (p.Ala1204Thr) | ClinVar dbSNP |
7 | g.117642573G>C | CA368975521 | CFTR | c.*62G>C (n.*62G>C) c.*3567G>C (n.*3567G>C) c.3670G>C (p.Ala1224Pro) c.3853G>C (p.Ala1285Pro) c.*506G>C (n.*506G>C) c.*514G>C (n.*514G>C) c.*2228G>C (n.*2228G>C) c.3847G>C (p.Ala1283Pro) c.*3677G>C (n.*3677G>C) c.3427G>C (p.Ala1143Pro) c.601G>C (p.Ala201Pro) c.1640G>C (n.1640G>C) c.435G>C c.1303G>C c.3763G>C (p.Ala1255Pro) c.3943G>C (p.Ala1315Pro) c.3610G>C (p.Ala1204Pro) | |
7 | g.117642573G= | CA1737404807 | CFTR | c.*62G= (n.*62G=) c.*3567G= (n.*3567G=) c.3670G= (p.Ala1224=) c.3853G= (p.Ala1285=) c.*506G= (n.*506G=) c.*514G= (n.*514G=) c.*2228G= (n.*2228G=) c.3847G= (p.Ala1283=) c.*3677G= (n.*3677G=) c.3427G= (p.Ala1143=) c.601G= (p.Ala201=) c.1640G= (n.1640G=) c.435G= c.1303G= c.3763G= (p.Ala1255=) c.3943G= (p.Ala1315=) c.3610G= (p.Ala1204=) | |
7 | g.117642573G>T | CA368975523 | CFTR | c.*62G>T (n.*62G>T) c.*3567G>T (n.*3567G>T) c.3670G>T (p.Ala1224Ser) c.3853G>T (p.Ala1285Ser) c.*506G>T (n.*506G>T) c.*514G>T (n.*514G>T) c.*2228G>T (n.*2228G>T) c.3847G>T (p.Ala1283Ser) c.*3677G>T (n.*3677G>T) c.3427G>T (p.Ala1143Ser) c.601G>T (p.Ala201Ser) c.1640G>T (n.1640G>T) c.435G>T c.1303G>T c.3763G>T (p.Ala1255Ser) c.3943G>T (p.Ala1315Ser) c.3610G>T (p.Ala1204Ser) | ClinVar dbSNP |
7 | g.117642573_117642574delinsGC | CA1737404808 | CFTR | c.*62_*63delinsGC (n.*62_*63delinsGC) c.*3567_*3568delinsGC (n.*3567_*3568delinsGC) c.3670_3671delinsGC (p.Ala1224=) c.3853_3854delinsGC (p.Ala1285=) c.*506_*507delinsGC (n.*506_*507delinsGC) c.*514_*515delinsGC (n.*514_*515delinsGC) c.*2228_*2229delinsGC (n.*2228_*2229delinsGC) c.3847_3848delinsGC (p.Ala1283=) c.*3677_*3678delinsGC (n.*3677_*3678delinsGC) c.3427_3428delinsGC (p.Ala1143=) c.601_602delinsGC (p.Ala201=) c.1640_1641delinsGC (n.1640_1641delinsGC) c.435_436delinsGC c.1303_1304delinsGC c.3763_3764delinsGC (p.Ala1255=) c.3943_3944delinsGC (p.Ala1315=) c.3610_3611delinsGC (p.Ala1204=) | |
7 | g.117642574C>A | CA368975529 | CFTR | c.*63C>A (n.*63C>A) c.*3568C>A (n.*3568C>A) c.3671C>A (p.Ala1224Asp) c.3854C>A (p.Ala1285Asp) c.*507C>A (n.*507C>A) c.*515C>A (n.*515C>A) c.*2229C>A (n.*2229C>A) c.3848C>A (p.Ala1283Asp) c.*3678C>A (n.*3678C>A) c.3428C>A (p.Ala1143Asp) c.602C>A (p.Ala201Asp) c.1641C>A (n.1641C>A) c.436C>A c.1304C>A c.3764C>A (p.Ala1255Asp) c.3944C>A (p.Ala1315Asp) c.3611C>A (p.Ala1204Asp) | dbSNP gnomAD v2 |
7 | g.117642574C= | CA1737404809 | CFTR | c.*63C= (n.*63C=) c.*3568C= (n.*3568C=) c.3671C= (p.Ala1224=) c.3854C= (p.Ala1285=) c.*507C= (n.*507C=) c.*515C= (n.*515C=) c.*2229C= (n.*2229C=) c.3848C= (p.Ala1283=) c.*3678C= (n.*3678C=) c.3428C= (p.Ala1143=) c.602C= (p.Ala201=) c.1641C= (n.1641C=) c.436C= c.1304C= c.3764C= (p.Ala1255=) c.3944C= (p.Ala1315=) c.3611C= (p.Ala1204=) | |
7 | g.117642574C>G | CA368975532 | CFTR | c.*63C>G (n.*63C>G) c.*3568C>G (n.*3568C>G) c.3671C>G (p.Ala1224Gly) c.3854C>G (p.Ala1285Gly) c.*507C>G (n.*507C>G) c.*515C>G (n.*515C>G) c.*2229C>G (n.*2229C>G) c.3848C>G (p.Ala1283Gly) c.*3678C>G (n.*3678C>G) c.3428C>G (p.Ala1143Gly) c.602C>G (p.Ala201Gly) c.1641C>G (n.1641C>G) c.436C>G c.1304C>G c.3764C>G (p.Ala1255Gly) c.3944C>G (p.Ala1315Gly) c.3611C>G (p.Ala1204Gly) | ClinVar gnomAD v4 |
7 | g.117642574C>T | CA327309 | CFTR | c.*63C>T (n.*63C>T) c.*3568C>T (n.*3568C>T) c.3671C>T (p.Ala1224Val) c.3854C>T (p.Ala1285Val) c.*507C>T (n.*507C>T) c.*515C>T (n.*515C>T) c.*2229C>T (n.*2229C>T) c.3848C>T (p.Ala1283Val) c.*3678C>T (n.*3678C>T) c.3428C>T (p.Ala1143Val) c.602C>T (p.Ala201Val) c.1641C>T (n.1641C>T) c.436C>T c.1304C>T c.3764C>T (p.Ala1255Val) c.3944C>T (p.Ala1315Val) c.3611C>T (p.Ala1204Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642575del | CA327311 | CFTR | c.*64del (n.*64del) c.*3569del (n.*3569del) c.3672del (p.Phe1225LeufsTer3) c.3855del (p.Phe1286LeufsTer3) c.*508del (n.*508del) c.*516del (n.*516del) c.*2230del (n.*2230del) c.3849del (p.Phe1284LeufsTer3) c.*3679del (n.*3679del) c.3429del (p.Phe1144LeufsTer3) c.603del (p.Phe202LeufsTer3) c.1642del (n.1642del) c.437del c.1305del c.3765del (p.Phe1256LeufsTer3) c.3945del (p.Phe1316LeufsTer3) c.3612del (p.Phe1205LeufsTer3) | ClinVar dbSNP |
7 | g.117642575C>A | CA457228464 | CFTR | c.*64C>A (n.*64C>A) c.*3569C>A (n.*3569C>A) c.3672C>A (p.Ala1224=) c.3855C>A (p.Ala1285=) c.*508C>A (n.*508C>A) c.*516C>A (n.*516C>A) c.*2230C>A (n.*2230C>A) c.3849C>A (p.Ala1283=) c.*3679C>A (n.*3679C>A) c.3429C>A (p.Ala1143=) c.603C>A (p.Ala201=) c.1642C>A (n.1642C>A) c.437C>A c.1305C>A c.3765C>A (p.Ala1255=) c.3945C>A (p.Ala1315=) c.3612C>A (p.Ala1204=) | |
7 | g.117642575C= | CA1737404810 | CFTR | c.*64C= (n.*64C=) c.*3569C= (n.*3569C=) c.3672C= (p.Ala1224=) c.3855C= (p.Ala1285=) c.*508C= (n.*508C=) c.*516C= (n.*516C=) c.*2230C= (n.*2230C=) c.3849C= (p.Ala1283=) c.*3679C= (n.*3679C=) c.3429C= (p.Ala1143=) c.603C= (p.Ala201=) c.1642C= (n.1642C=) c.437C= c.1305C= c.3765C= (p.Ala1255=) c.3945C= (p.Ala1315=) c.3612C= (p.Ala1204=) | |
7 | g.117642575C>G | CA4451558 | CFTR | c.*64C>G (n.*64C>G) c.*3569C>G (n.*3569C>G) c.3672C>G (p.Ala1224=) c.3855C>G (p.Ala1285=) c.*508C>G (n.*508C>G) c.*516C>G (n.*516C>G) c.*2230C>G (n.*2230C>G) c.3849C>G (p.Ala1283=) c.*3679C>G (n.*3679C>G) c.3429C>G (p.Ala1143=) c.603C>G (p.Ala201=) c.1642C>G (n.1642C>G) c.437C>G c.1305C>G c.3765C>G (p.Ala1255=) c.3945C>G (p.Ala1315=) c.3612C>G (p.Ala1204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117642575C>T | CA457228467 | CFTR | c.*64C>T (n.*64C>T) c.*3569C>T (n.*3569C>T) c.3672C>T (p.Ala1224=) c.3855C>T (p.Ala1285=) c.*508C>T (n.*508C>T) c.*516C>T (n.*516C>T) c.*2230C>T (n.*2230C>T) c.3849C>T (p.Ala1283=) c.*3679C>T (n.*3679C>T) c.3429C>T (p.Ala1143=) c.603C>T (p.Ala201=) c.1642C>T (n.1642C>T) c.437C>T c.1305C>T c.3765C>T (p.Ala1255=) c.3945C>T (p.Ala1315=) c.3612C>T (p.Ala1204=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117642576T>A | CA368975540 | CFTR | c.*65T>A (n.*65T>A) c.*3570T>A (n.*3570T>A) c.3673T>A (p.Phe1225Ile) c.3856T>A (p.Phe1286Ile) c.*509T>A (n.*509T>A) c.*517T>A (n.*517T>A) c.*2231T>A (n.*2231T>A) c.3850T>A (p.Phe1284Ile) c.*3680T>A (n.*3680T>A) c.3430T>A (p.Phe1144Ile) c.604T>A (p.Phe202Ile) c.1643T>A (n.1643T>A) c.438T>A c.1306T>A c.3766T>A (p.Phe1256Ile) c.3946T>A (p.Phe1316Ile) c.3613T>A (p.Phe1205Ile) | |
7 | g.117642576T>C | CA368975544 | CFTR | c.*65T>C (n.*65T>C) c.*3570T>C (n.*3570T>C) c.3673T>C (p.Phe1225Leu) c.3856T>C (p.Phe1286Leu) c.*509T>C (n.*509T>C) c.*517T>C (n.*517T>C) c.*2231T>C (n.*2231T>C) c.3850T>C (p.Phe1284Leu) c.*3680T>C (n.*3680T>C) c.3430T>C (p.Phe1144Leu) c.604T>C (p.Phe202Leu) c.1643T>C (n.1643T>C) c.438T>C c.1306T>C c.3766T>C (p.Phe1256Leu) c.3946T>C (p.Phe1316Leu) c.3613T>C (p.Phe1205Leu) | COSMIC |
7 | g.117642576T>G | CA368975546 | CFTR | c.*65T>G (n.*65T>G) c.*3570T>G (n.*3570T>G) c.3673T>G (p.Phe1225Val) c.3856T>G (p.Phe1286Val) c.*509T>G (n.*509T>G) c.*517T>G (n.*517T>G) c.*2231T>G (n.*2231T>G) c.3850T>G (p.Phe1284Val) c.*3680T>G (n.*3680T>G) c.3430T>G (p.Phe1144Val) c.604T>G (p.Phe202Val) c.1643T>G (n.1643T>G) c.438T>G c.1306T>G c.3766T>G (p.Phe1256Val) c.3946T>G (p.Phe1316Val) c.3613T>G (p.Phe1205Val) | |
7 | g.117642577T>A | CA368975555 | CFTR | c.*66T>A (n.*66T>A) c.*3571T>A (n.*3571T>A) c.3674T>A (p.Phe1225Tyr) c.3857T>A (p.Phe1286Tyr) c.*510T>A (n.*510T>A) c.*518T>A (n.*518T>A) c.*2232T>A (n.*2232T>A) c.3851T>A (p.Phe1284Tyr) c.*3681T>A (n.*3681T>A) c.3431T>A (p.Phe1144Tyr) c.605T>A (p.Phe202Tyr) c.1644T>A (n.1644T>A) c.439T>A c.1307T>A c.3767T>A (p.Phe1256Tyr) c.3947T>A (p.Phe1316Tyr) c.3614T>A (p.Phe1205Tyr) | |
7 | g.117642577T>C | CA325574 | CFTR | c.*66T>C (n.*66T>C) c.*3571T>C (n.*3571T>C) c.3674T>C (p.Phe1225Ser) c.3857T>C (p.Phe1286Ser) c.*510T>C (n.*510T>C) c.*518T>C (n.*518T>C) c.*2232T>C (n.*2232T>C) c.3851T>C (p.Phe1284Ser) c.*3681T>C (n.*3681T>C) c.3431T>C (p.Phe1144Ser) c.605T>C (p.Phe202Ser) c.1644T>C (n.1644T>C) c.439T>C c.1307T>C c.3767T>C (p.Phe1256Ser) c.3947T>C (p.Phe1316Ser) c.3614T>C (p.Phe1205Ser) | ClinVar dbSNP |
7 | g.117642577T>G | CA368975550 | CFTR | c.*66T>G (n.*66T>G) c.*3571T>G (n.*3571T>G) c.3674T>G (p.Phe1225Cys) c.3857T>G (p.Phe1286Cys) c.*510T>G (n.*510T>G) c.*518T>G (n.*518T>G) c.*2232T>G (n.*2232T>G) c.3851T>G (p.Phe1284Cys) c.*3681T>G (n.*3681T>G) c.3431T>G (p.Phe1144Cys) c.605T>G (p.Phe202Cys) c.1644T>G (n.1644T>G) c.439T>G c.1307T>G c.3767T>G (p.Phe1256Cys) c.3947T>G (p.Phe1316Cys) c.3614T>G (p.Phe1205Cys) | ClinVar dbSNP gnomAD v4 |
7 | g.117642577T= | CA1737404811 | CFTR | c.*66T= (n.*66T=) c.*3571T= (n.*3571T=) c.3674T= (p.Phe1225=) c.3857T= (p.Phe1286=) c.*510T= (n.*510T=) c.*518T= (n.*518T=) c.*2232T= (n.*2232T=) c.3851T= (p.Phe1284=) c.*3681T= (n.*3681T=) c.3431T= (p.Phe1144=) c.605T= (p.Phe202=) c.1644T= (n.1644T=) c.439T= c.1307T= c.3767T= (p.Phe1256=) c.3947T= (p.Phe1316=) c.3614T= (p.Phe1205=) | |
7 | g.117642578T>A | CA368975560 | CFTR | c.*67T>A (n.*67T>A) c.*3572T>A (n.*3572T>A) c.3675T>A (p.Phe1225Leu) c.3858T>A (p.Phe1286Leu) c.*511T>A (n.*511T>A) c.*519T>A (n.*519T>A) c.*2233T>A (n.*2233T>A) c.3852T>A (p.Phe1284Leu) c.*3682T>A (n.*3682T>A) c.3432T>A (p.Phe1144Leu) c.606T>A (p.Phe202Leu) c.1645T>A (n.1645T>A) c.440T>A c.1308T>A c.3768T>A (p.Phe1256Leu) c.3948T>A (p.Phe1316Leu) c.3615T>A (p.Phe1205Leu) | |
7 | g.117642578T>C | CA457228479 | CFTR | c.*67T>C (n.*67T>C) c.*3572T>C (n.*3572T>C) c.3675T>C (p.Phe1225=) c.3858T>C (p.Phe1286=) c.*511T>C (n.*511T>C) c.*519T>C (n.*519T>C) c.*2233T>C (n.*2233T>C) c.3852T>C (p.Phe1284=) c.*3682T>C (n.*3682T>C) c.3432T>C (p.Phe1144=) c.606T>C (p.Phe202=) c.1645T>C (n.1645T>C) c.440T>C c.1308T>C c.3768T>C (p.Phe1256=) c.3948T>C (p.Phe1316=) c.3615T>C (p.Phe1205=) | |
7 | g.117642578T>G | CA368975563 | CFTR | c.*67T>G (n.*67T>G) c.*3572T>G (n.*3572T>G) c.3675T>G (p.Phe1225Leu) c.3858T>G (p.Phe1286Leu) c.*511T>G (n.*511T>G) c.*519T>G (n.*519T>G) c.*2233T>G (n.*2233T>G) c.3852T>G (p.Phe1284Leu) c.*3682T>G (n.*3682T>G) c.3432T>G (p.Phe1144Leu) c.606T>G (p.Phe202Leu) c.1645T>G (n.1645T>G) c.440T>G c.1308T>G c.3768T>G (p.Phe1256Leu) c.3948T>G (p.Phe1316Leu) c.3615T>G (p.Phe1205Leu) | dbSNP |
7 | g.117642578T= | CA1737404812 | CFTR | c.*67T= (n.*67T=) c.*3572T= (n.*3572T=) c.3675T= (p.Phe1225=) c.3858T= (p.Phe1286=) c.*511T= (n.*511T=) c.*519T= (n.*519T=) c.*2233T= (n.*2233T=) c.3852T= (p.Phe1284=) c.*3682T= (n.*3682T=) c.3432T= (p.Phe1144=) c.606T= (p.Phe202=) c.1645T= (n.1645T=) c.440T= c.1308T= c.3768T= (p.Phe1256=) c.3948T= (p.Phe1316=) c.3615T= (p.Phe1205=) | |
7 | g.117642579G>A | CA368975566 | CFTR | c.*68G>A (n.*68G>A) c.*3573G>A (n.*3573G>A) c.3676G>A (p.Gly1226Arg) c.3859G>A (p.Gly1287Arg) c.*512G>A (n.*512G>A) c.*520G>A (n.*520G>A) c.*2234G>A (n.*2234G>A) c.3853G>A (p.Gly1285Arg) c.*3683G>A (n.*3683G>A) c.3433G>A (p.Gly1145Arg) c.607G>A (p.Gly203Arg) c.1646G>A (n.1646G>A) c.441G>A c.1309G>A c.3769G>A (p.Gly1257Arg) c.3949G>A (p.Gly1317Arg) c.3616G>A (p.Gly1206Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.117642579G>C | CA368975569 | CFTR | c.*68G>C (n.*68G>C) c.*3573G>C (n.*3573G>C) c.3676G>C (p.Gly1226Arg) c.3859G>C (p.Gly1287Arg) c.*512G>C (n.*512G>C) c.*520G>C (n.*520G>C) c.*2234G>C (n.*2234G>C) c.3853G>C (p.Gly1285Arg) c.*3683G>C (n.*3683G>C) c.3433G>C (p.Gly1145Arg) c.607G>C (p.Gly203Arg) c.1646G>C (n.1646G>C) c.441G>C c.1309G>C c.3769G>C (p.Gly1257Arg) c.3949G>C (p.Gly1317Arg) c.3616G>C (p.Gly1206Arg) | |
7 | g.117642579G= | CA1737404813 | CFTR | c.*68G= (n.*68G=) c.*3573G= (n.*3573G=) c.3676G= (p.Gly1226=) c.3859G= (p.Gly1287=) c.*512G= (n.*512G=) c.*520G= (n.*520G=) c.*2234G= (n.*2234G=) c.3853G= (p.Gly1285=) c.*3683G= (n.*3683G=) c.3433G= (p.Gly1145=) c.607G= (p.Gly203=) c.1646G= (n.1646G=) c.441G= c.1309G= c.3769G= (p.Gly1257=) c.3949G= (p.Gly1317=) c.3616G= (p.Gly1206=) | |
7 | g.117642579G>T | CA368975572 | CFTR | c.*68G>T (n.*68G>T) c.*3573G>T (n.*3573G>T) c.3676G>T (p.Gly1226Ter) c.3859G>T (p.Gly1287Ter) c.*512G>T (n.*512G>T) c.*520G>T (n.*520G>T) c.*2234G>T (n.*2234G>T) c.3853G>T (p.Gly1285Ter) c.*3683G>T (n.*3683G>T) c.3433G>T (p.Gly1145Ter) c.607G>T (p.Gly203Ter) c.1646G>T (n.1646G>T) c.441G>T c.1309G>T c.3769G>T (p.Gly1257Ter) c.3949G>T (p.Gly1317Ter) c.3616G>T (p.Gly1206Ter) | ClinVar dbSNP |
7 | g.117642580del | CA2695205221 | CFTR | c.*69del (n.*69del) c.*3574del (n.*3574del) c.3677del (p.Gly1226GlufsTer2) c.3860del (p.Gly1287GlufsTer2) c.*513del (n.*513del) c.*521del (n.*521del) c.*2235del (n.*2235del) c.3854del (p.Gly1285GlufsTer2) c.*3684del (n.*3684del) c.3434del (p.Gly1145GlufsTer2) c.608del (p.Gly203GlufsTer2) c.1647del (n.1647del) c.442del c.1310del c.3770del (p.Gly1257GlufsTer2) c.3950del (p.Gly1317GlufsTer2) c.3617del (p.Gly1206GlufsTer2) | |
7 | g.117642580G>A | CA368975577 | CFTR | c.*69G>A (n.*69G>A) c.*3574G>A (n.*3574G>A) c.3677G>A (p.Gly1226Glu) c.3860G>A (p.Gly1287Glu) c.*513G>A (n.*513G>A) c.*521G>A (n.*521G>A) c.*2235G>A (n.*2235G>A) c.3854G>A (p.Gly1285Glu) c.*3684G>A (n.*3684G>A) c.3434G>A (p.Gly1145Glu) c.608G>A (p.Gly203Glu) c.1647G>A (n.1647G>A) c.442G>A c.1310G>A c.3770G>A (p.Gly1257Glu) c.3950G>A (p.Gly1317Glu) c.3617G>A (p.Gly1206Glu) | |
7 | g.117642580G>C | CA368975580 | CFTR | c.*69G>C (n.*69G>C) c.*3574G>C (n.*3574G>C) c.3677G>C (p.Gly1226Ala) c.3860G>C (p.Gly1287Ala) c.*513G>C (n.*513G>C) c.*521G>C (n.*521G>C) c.*2235G>C (n.*2235G>C) c.3854G>C (p.Gly1285Ala) c.*3684G>C (n.*3684G>C) c.3434G>C (p.Gly1145Ala) c.608G>C (p.Gly203Ala) c.1647G>C (n.1647G>C) c.442G>C c.1310G>C c.3770G>C (p.Gly1257Ala) c.3950G>C (p.Gly1317Ala) c.3617G>C (p.Gly1206Ala) | |
7 | g.117642580G>T | CA368975581 | CFTR | c.*69G>T (n.*69G>T) c.*3574G>T (n.*3574G>T) c.3677G>T (p.Gly1226Val) c.3860G>T (p.Gly1287Val) c.*513G>T (n.*513G>T) c.*521G>T (n.*521G>T) c.*2235G>T (n.*2235G>T) c.3854G>T (p.Gly1285Val) c.*3684G>T (n.*3684G>T) c.3434G>T (p.Gly1145Val) c.608G>T (p.Gly203Val) c.1647G>T (n.1647G>T) c.442G>T c.1310G>T c.3770G>T (p.Gly1257Val) c.3950G>T (p.Gly1317Val) c.3617G>T (p.Gly1206Val) | |
7 | g.117642581A>C | CA457228487 | CFTR | c.*70A>C (n.*70A>C) c.*3575A>C (n.*3575A>C) c.3678A>C (p.Gly1226=) c.3861A>C (p.Gly1287=) c.*514A>C (n.*514A>C) c.*522A>C (n.*522A>C) c.*2236A>C (n.*2236A>C) c.3855A>C (p.Gly1285=) c.*3685A>C (n.*3685A>C) c.3435A>C (p.Gly1145=) c.609A>C (p.Gly203=) c.1648A>C (n.1648A>C) c.443A>C c.1311A>C c.3771A>C (p.Gly1257=) c.3951A>C (p.Gly1317=) c.3618A>C (p.Gly1206=) | |
7 | g.117642581A>G | CA457228490 | CFTR | c.*70A>G (n.*70A>G) c.*3575A>G (n.*3575A>G) c.3678A>G (p.Gly1226=) c.3861A>G (p.Gly1287=) c.*514A>G (n.*514A>G) c.*522A>G (n.*522A>G) c.*2236A>G (n.*2236A>G) c.3855A>G (p.Gly1285=) c.*3685A>G (n.*3685A>G) c.3435A>G (p.Gly1145=) c.609A>G (p.Gly203=) c.1648A>G (n.1648A>G) c.443A>G c.1311A>G c.3771A>G (p.Gly1257=) c.3951A>G (p.Gly1317=) c.3618A>G (p.Gly1206=) | |
7 | g.117642581A>T | CA457228492 | CFTR | c.*70A>T (n.*70A>T) c.*3575A>T (n.*3575A>T) c.3678A>T (p.Gly1226=) c.3861A>T (p.Gly1287=) c.*514A>T (n.*514A>T) c.*522A>T (n.*522A>T) c.*2236A>T (n.*2236A>T) c.3855A>T (p.Gly1285=) c.*3685A>T (n.*3685A>T) c.3435A>T (p.Gly1145=) c.609A>T (p.Gly203=) c.1648A>T (n.1648A>T) c.443A>T c.1311A>T c.3771A>T (p.Gly1257=) c.3951A>T (p.Gly1317=) c.3618A>T (p.Gly1206=) | |
7 | g.117642582G>A | CA368975583 | CFTR | c.*71G>A (n.*71G>A) c.*3576G>A (n.*3576G>A) c.3679G>A (p.Val1227Met) c.3862G>A (p.Val1288Met) c.*515G>A (n.*515G>A) c.*523G>A (n.*523G>A) c.*2237G>A (n.*2237G>A) c.3856G>A (p.Val1286Met) c.*3686G>A (n.*3686G>A) c.3436G>A (p.Val1146Met) c.610G>A (p.Val204Met) c.1649G>A (n.1649G>A) c.444G>A c.1312G>A c.3772G>A (p.Val1258Met) c.3952G>A (p.Val1318Met) c.3619G>A (p.Val1207Met) | ClinVar gnomAD v4 |
7 | g.117642582G>C | CA368975585 | CFTR | c.*71G>C (n.*71G>C) c.*3576G>C (n.*3576G>C) c.3679G>C (p.Val1227Leu) c.3862G>C (p.Val1288Leu) c.*515G>C (n.*515G>C) c.*523G>C (n.*523G>C) c.*2237G>C (n.*2237G>C) c.3856G>C (p.Val1286Leu) c.*3686G>C (n.*3686G>C) c.3436G>C (p.Val1146Leu) c.610G>C (p.Val204Leu) c.1649G>C (n.1649G>C) c.444G>C c.1312G>C c.3772G>C (p.Val1258Leu) c.3952G>C (p.Val1318Leu) c.3619G>C (p.Val1207Leu) | |
7 | g.117642582G>T | CA368975592 | CFTR | c.*71G>T (n.*71G>T) c.*3576G>T (n.*3576G>T) c.3679G>T (p.Val1227Leu) c.3862G>T (p.Val1288Leu) c.*515G>T (n.*515G>T) c.*523G>T (n.*523G>T) c.*2237G>T (n.*2237G>T) c.3856G>T (p.Val1286Leu) c.*3686G>T (n.*3686G>T) c.3436G>T (p.Val1146Leu) c.610G>T (p.Val204Leu) c.1649G>T (n.1649G>T) c.444G>T c.1312G>T c.3772G>T (p.Val1258Leu) c.3952G>T (p.Val1318Leu) c.3619G>T (p.Val1207Leu) | |
7 | g.117642583T>A | CA368975598 | CFTR | c.*72T>A (n.*72T>A) c.*3577T>A (n.*3577T>A) c.3680T>A (p.Val1227Glu) c.3863T>A (p.Val1288Glu) c.*516T>A (n.*516T>A) c.*524T>A (n.*524T>A) c.*2238T>A (n.*2238T>A) c.3857T>A (p.Val1286Glu) c.*3687T>A (n.*3687T>A) c.3437T>A (p.Val1146Glu) c.611T>A (p.Val204Glu) c.1650T>A (n.1650T>A) c.445T>A c.1313T>A c.3773T>A (p.Val1258Glu) c.3953T>A (p.Val1318Glu) c.3620T>A (p.Val1207Glu) | |
7 | g.117642583T>C | CA368975600 | CFTR | c.*72T>C (n.*72T>C) c.*3577T>C (n.*3577T>C) c.3680T>C (p.Val1227Ala) c.3863T>C (p.Val1288Ala) c.*516T>C (n.*516T>C) c.*524T>C (n.*524T>C) c.*2238T>C (n.*2238T>C) c.3857T>C (p.Val1286Ala) c.*3687T>C (n.*3687T>C) c.3437T>C (p.Val1146Ala) c.611T>C (p.Val204Ala) c.1650T>C (n.1650T>C) c.445T>C c.1313T>C c.3773T>C (p.Val1258Ala) c.3953T>C (p.Val1318Ala) c.3620T>C (p.Val1207Ala) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117642583T>G | CA368975603 | CFTR | c.*72T>G (n.*72T>G) c.*3577T>G (n.*3577T>G) c.3680T>G (p.Val1227Gly) c.3863T>G (p.Val1288Gly) c.*516T>G (n.*516T>G) c.*524T>G (n.*524T>G) c.*2238T>G (n.*2238T>G) c.3857T>G (p.Val1286Gly) c.*3687T>G (n.*3687T>G) c.3437T>G (p.Val1146Gly) c.611T>G (p.Val204Gly) c.1650T>G (n.1650T>G) c.445T>G c.1313T>G c.3773T>G (p.Val1258Gly) c.3953T>G (p.Val1318Gly) c.3620T>G (p.Val1207Gly) | |
7 | g.117642583T= | CA1737404814 | CFTR | c.*72T= (n.*72T=) c.*3577T= (n.*3577T=) c.3680T= (p.Val1227=) c.3863T= (p.Val1288=) c.*516T= (n.*516T=) c.*524T= (n.*524T=) c.*2238T= (n.*2238T=) c.3857T= (p.Val1286=) c.*3687T= (n.*3687T=) c.3437T= (p.Val1146=) c.611T= (p.Val204=) c.1650T= (n.1650T=) c.445T= c.1313T= c.3773T= (p.Val1258=) c.3953T= (p.Val1318=) c.3620T= (p.Val1207=) | |
7 | g.117642584G>A | CA457228502 | CFTR | c.*73G>A (n.*73G>A) c.*3578G>A (n.*3578G>A) c.3681G>A (p.Val1227=) c.3864G>A (p.Val1288=) c.*517G>A (n.*517G>A) c.*525G>A (n.*525G>A) c.*2239G>A (n.*2239G>A) c.3858G>A (p.Val1286=) c.*3688G>A (n.*3688G>A) c.3438G>A (p.Val1146=) c.612G>A (p.Val204=) c.1651G>A (n.1651G>A) c.446G>A c.1314G>A c.3774G>A (p.Val1258=) c.3954G>A (p.Val1318=) c.3621G>A (p.Val1207=) | COSMIC |
7 | g.117642584G>C | CA457228503 | CFTR | c.*73G>C (n.*73G>C) c.*3578G>C (n.*3578G>C) c.3681G>C (p.Val1227=) c.3864G>C (p.Val1288=) c.*517G>C (n.*517G>C) c.*525G>C (n.*525G>C) c.*2239G>C (n.*2239G>C) c.3858G>C (p.Val1286=) c.*3688G>C (n.*3688G>C) c.3438G>C (p.Val1146=) c.612G>C (p.Val204=) c.1651G>C (n.1651G>C) c.446G>C c.1314G>C c.3774G>C (p.Val1258=) c.3954G>C (p.Val1318=) c.3621G>C (p.Val1207=) | |
7 | g.117642584G>T | CA457228505 | CFTR | c.*73G>T (n.*73G>T) c.*3578G>T (n.*3578G>T) c.3681G>T (p.Val1227=) c.3864G>T (p.Val1288=) c.*517G>T (n.*517G>T) c.*525G>T (n.*525G>T) c.*2239G>T (n.*2239G>T) c.3858G>T (p.Val1286=) c.*3688G>T (n.*3688G>T) c.3438G>T (p.Val1146=) c.612G>T (p.Val204=) c.1651G>T (n.1651G>T) c.446G>T c.1314G>T c.3774G>T (p.Val1258=) c.3954G>T (p.Val1318=) c.3621G>T (p.Val1207=) | |
7 | g.117642585A= | CA1737404815 | CFTR | c.*74A= (n.*74A=) c.*3579A= (n.*3579A=) c.3682A= (p.Ile1228=) c.3865A= (p.Ile1289=) c.*518A= (n.*518A=) c.*526A= (n.*526A=) c.*2240A= (n.*2240A=) c.3859A= (p.Ile1287=) c.*3689A= (n.*3689A=) c.3439A= (p.Ile1147=) c.613A= (p.Ile205=) c.1652A= (n.1652A=) c.447A= c.1315A= c.3775A= (p.Ile1259=) c.3955A= (p.Ile1319=) c.3622A= (p.Ile1208=) | |
7 | g.117642585A>C | CA368975610 | CFTR | c.*74A>C (n.*74A>C) c.*3579A>C (n.*3579A>C) c.3682A>C (p.Ile1228Leu) c.3865A>C (p.Ile1289Leu) c.*518A>C (n.*518A>C) c.*526A>C (n.*526A>C) c.*2240A>C (n.*2240A>C) c.3859A>C (p.Ile1287Leu) c.*3689A>C (n.*3689A>C) c.3439A>C (p.Ile1147Leu) c.613A>C (p.Ile205Leu) c.1652A>C (n.1652A>C) c.447A>C c.1315A>C c.3775A>C (p.Ile1259Leu) c.3955A>C (p.Ile1319Leu) c.3622A>C (p.Ile1208Leu) | |
7 | g.117642585A>G | CA368975606 | CFTR | c.*74A>G (n.*74A>G) c.*3579A>G (n.*3579A>G) c.3682A>G (p.Ile1228Val) c.3865A>G (p.Ile1289Val) c.*518A>G (n.*518A>G) c.*526A>G (n.*526A>G) c.*2240A>G (n.*2240A>G) c.3859A>G (p.Ile1287Val) c.*3689A>G (n.*3689A>G) c.3439A>G (p.Ile1147Val) c.613A>G (p.Ile205Val) c.1652A>G (n.1652A>G) c.447A>G c.1315A>G c.3775A>G (p.Ile1259Val) c.3955A>G (p.Ile1319Val) c.3622A>G (p.Ile1208Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117642585A>T | CA368975608 | CFTR | c.*74A>T (n.*74A>T) c.*3579A>T (n.*3579A>T) c.3682A>T (p.Ile1228Leu) c.3865A>T (p.Ile1289Leu) c.*518A>T (n.*518A>T) c.*526A>T (n.*526A>T) c.*2240A>T (n.*2240A>T) c.3859A>T (p.Ile1287Leu) c.*3689A>T (n.*3689A>T) c.3439A>T (p.Ile1147Leu) c.613A>T (p.Ile205Leu) c.1652A>T (n.1652A>T) c.447A>T c.1315A>T c.3775A>T (p.Ile1259Leu) c.3955A>T (p.Ile1319Leu) c.3622A>T (p.Ile1208Leu) | |
7 | g.117642586T>A | CA4451559 | CFTR | c.*75T>A (n.*75T>A) c.*3580T>A (n.*3580T>A) c.3683T>A (p.Ile1228Lys) c.3866T>A (p.Ile1289Lys) c.*519T>A (n.*519T>A) c.*527T>A (n.*527T>A) c.*2241T>A (n.*2241T>A) c.3860T>A (p.Ile1287Lys) c.*3690T>A (n.*3690T>A) c.3440T>A (p.Ile1147Lys) c.614T>A (p.Ile205Lys) c.1653T>A (n.1653T>A) c.448T>A c.1316T>A c.3776T>A (p.Ile1259Lys) c.3956T>A (p.Ile1319Lys) c.3623T>A (p.Ile1208Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117642586T>C | CA368975614 | CFTR | c.*75T>C (n.*75T>C) c.*3580T>C (n.*3580T>C) c.3683T>C (p.Ile1228Thr) c.3866T>C (p.Ile1289Thr) c.*519T>C (n.*519T>C) c.*527T>C (n.*527T>C) c.*2241T>C (n.*2241T>C) c.3860T>C (p.Ile1287Thr) c.*3690T>C (n.*3690T>C) c.3440T>C (p.Ile1147Thr) c.614T>C (p.Ile205Thr) c.1653T>C (n.1653T>C) c.448T>C c.1316T>C c.3776T>C (p.Ile1259Thr) c.3956T>C (p.Ile1319Thr) c.3623T>C (p.Ile1208Thr) | |
7 | g.117642586T>G | CA368975616 | CFTR | c.*75T>G (n.*75T>G) c.*3580T>G (n.*3580T>G) c.3683T>G (p.Ile1228Arg) c.3866T>G (p.Ile1289Arg) c.*519T>G (n.*519T>G) c.*527T>G (n.*527T>G) c.*2241T>G (n.*2241T>G) c.3860T>G (p.Ile1287Arg) c.*3690T>G (n.*3690T>G) c.3440T>G (p.Ile1147Arg) c.614T>G (p.Ile205Arg) c.1653T>G (n.1653T>G) c.448T>G c.1316T>G c.3776T>G (p.Ile1259Arg) c.3956T>G (p.Ile1319Arg) c.3623T>G (p.Ile1208Arg) | |
7 | g.117642586T= | CA1737404816 | CFTR | c.*75T= (n.*75T=) c.*3580T= (n.*3580T=) c.3683T= (p.Ile1228=) c.3866T= (p.Ile1289=) c.*519T= (n.*519T=) c.*527T= (n.*527T=) c.*2241T= (n.*2241T=) c.3860T= (p.Ile1287=) c.*3690T= (n.*3690T=) c.3440T= (p.Ile1147=) c.614T= (p.Ile205=) c.1653T= (n.1653T=) c.448T= c.1316T= c.3776T= (p.Ile1259=) c.3956T= (p.Ile1319=) c.3623T= (p.Ile1208=) |