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.117642481T>A | CA368974631 | CFTR | c.3561T>A (p.Val1187=) c.*3475T>A (n.*3475T>A) c.3578T>A (p.Leu1193Ter) c.3761T>A (p.Leu1254Ter) c.*414T>A (n.*414T>A) c.*422T>A (n.*422T>A) c.*2136T>A (n.*2136T>A) c.3755T>A (p.Leu1252Ter) c.*3585T>A (n.*3585T>A) c.3335T>A (p.Leu1112Ter) c.509T>A (p.Leu170Ter) c.1548T>A (n.1548T>A) c.343T>A c.1211T>A c.3671T>A (p.Leu1224Ter) c.3851T>A (p.Leu1284Ter) c.3518T>A (p.Leu1173Ter) | |
7 | g.117642481T>C | CA368974634 | CFTR | c.3561T>C (p.Val1187=) c.*3475T>C (n.*3475T>C) c.3578T>C (p.Leu1193Ser) c.3761T>C (p.Leu1254Ser) c.*414T>C (n.*414T>C) c.*422T>C (n.*422T>C) c.*2136T>C (n.*2136T>C) c.3755T>C (p.Leu1252Ser) c.*3585T>C (n.*3585T>C) c.3335T>C (p.Leu1112Ser) c.509T>C (p.Leu170Ser) c.1548T>C (n.1548T>C) c.343T>C c.1211T>C c.3671T>C (p.Leu1224Ser) c.3851T>C (p.Leu1284Ser) c.3518T>C (p.Leu1173Ser) | |
7 | g.117642481T>G | CA327280 | CFTR | c.3561T>G (p.Val1187=) c.*3475T>G (n.*3475T>G) c.3578T>G (p.Leu1193Ter) c.3761T>G (p.Leu1254Ter) c.*414T>G (n.*414T>G) c.*422T>G (n.*422T>G) c.*2136T>G (n.*2136T>G) c.3755T>G (p.Leu1252Ter) c.*3585T>G (n.*3585T>G) c.3335T>G (p.Leu1112Ter) c.509T>G (p.Leu170Ter) c.1548T>G (n.1548T>G) c.343T>G c.1211T>G c.3671T>G (p.Leu1224Ter) c.3851T>G (p.Leu1284Ter) c.3518T>G (p.Leu1173Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117642481T= | CA1737404752 | CFTR | c.3561T= (p.Val1187=) c.*3475T= (n.*3475T=) c.3578T= (p.Leu1193=) c.3761T= (p.Leu1254=) c.*414T= (n.*414T=) c.*422T= (n.*422T=) c.*2136T= (n.*2136T=) c.3755T= (p.Leu1252=) c.*3585T= (n.*3585T=) c.3335T= (p.Leu1112=) c.509T= (p.Leu170=) c.1548T= (n.1548T=) c.343T= c.1211T= c.3671T= (p.Leu1224=) c.3851T= (p.Leu1284=) c.3518T= (p.Leu1173=) | |
7 | g.117642482A= | CA1737404753 | CFTR | c.3562A= (p.Ile1188=) c.*3476A= (n.*3476A=) c.3579A= (p.Leu1193=) c.3762A= (p.Leu1254=) c.*415A= (n.*415A=) c.*423A= (n.*423A=) c.*2137A= (n.*2137A=) c.3756A= (p.Leu1252=) c.*3586A= (n.*3586A=) c.3336A= (p.Leu1112=) c.510A= (p.Leu170=) c.1549A= (n.1549A=) c.344A= c.1212A= c.3672A= (p.Leu1224=) c.3852A= (p.Leu1284=) c.3519A= (p.Leu1173=) | |
7 | g.117642482A>C | CA368974641 | CFTR | c.3562A>C (p.Ile1188Leu) c.*3476A>C (n.*3476A>C) c.3579A>C (p.Leu1193Phe) c.3762A>C (p.Leu1254Phe) c.*415A>C (n.*415A>C) c.*423A>C (n.*423A>C) c.*2137A>C (n.*2137A>C) c.3756A>C (p.Leu1252Phe) c.*3586A>C (n.*3586A>C) c.3336A>C (p.Leu1112Phe) c.510A>C (p.Leu170Phe) c.1549A>C (n.1549A>C) c.344A>C c.1212A>C c.3672A>C (p.Leu1224Phe) c.3852A>C (p.Leu1284Phe) c.3519A>C (p.Leu1173Phe) | |
7 | g.117642482A>G | CA457228081 | CFTR | c.3562A>G (p.Ile1188Val) c.*3476A>G (n.*3476A>G) c.3579A>G (p.Leu1193=) c.3762A>G (p.Leu1254=) c.*415A>G (n.*415A>G) c.*423A>G (n.*423A>G) c.*2137A>G (n.*2137A>G) c.3756A>G (p.Leu1252=) c.*3586A>G (n.*3586A>G) c.3336A>G (p.Leu1112=) c.510A>G (p.Leu170=) c.1549A>G (n.1549A>G) c.344A>G c.1212A>G c.3672A>G (p.Leu1224=) c.3852A>G (p.Leu1284=) c.3519A>G (p.Leu1173=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642482A>T | CA4451542 | CFTR | c.3562A>T (p.Ile1188Phe) c.*3476A>T (n.*3476A>T) c.3579A>T (p.Leu1193Phe) c.3762A>T (p.Leu1254Phe) c.*415A>T (n.*415A>T) c.*423A>T (n.*423A>T) c.*2137A>T (n.*2137A>T) c.3756A>T (p.Leu1252Phe) c.*3586A>T (n.*3586A>T) c.3336A>T (p.Leu1112Phe) c.510A>T (p.Leu170Phe) c.1549A>T (n.1549A>T) c.344A>T c.1212A>T c.3672A>T (p.Leu1224Phe) c.3852A>T (p.Leu1284Phe) c.3519A>T (p.Leu1173Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642483T>A | CA368974648 | CFTR | c.3563T>A (p.Ile1188Asn) c.*3477T>A (n.*3477T>A) c.3580T>A (p.Ser1194Thr) c.3763T>A (p.Ser1255Thr) c.*416T>A (n.*416T>A) c.*424T>A (n.*424T>A) c.*2138T>A (n.*2138T>A) c.3757T>A (p.Ser1253Thr) c.*3587T>A (n.*3587T>A) c.3337T>A (p.Ser1113Thr) c.511T>A (p.Ser171Thr) c.1550T>A (n.1550T>A) c.345T>A c.1213T>A c.3673T>A (p.Ser1225Thr) c.3853T>A (p.Ser1285Thr) c.3520T>A (p.Ser1174Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642483T>C | CA325580 | CFTR | c.3563T>C (p.Ile1188Thr) c.*3477T>C (n.*3477T>C) c.3580T>C (p.Ser1194Pro) c.3763T>C (p.Ser1255Pro) c.*416T>C (n.*416T>C) c.*424T>C (n.*424T>C) c.*2138T>C (n.*2138T>C) c.3757T>C (p.Ser1253Pro) c.*3587T>C (n.*3587T>C) c.3337T>C (p.Ser1113Pro) c.511T>C (p.Ser171Pro) c.1550T>C (n.1550T>C) c.345T>C c.1213T>C c.3673T>C (p.Ser1225Pro) c.3853T>C (p.Ser1285Pro) c.3520T>C (p.Ser1174Pro) | ClinVar dbSNP |
7 | g.117642483T>G | CA368974659 | CFTR | c.3563T>G (p.Ile1188Ser) c.*3477T>G (n.*3477T>G) c.3580T>G (p.Ser1194Ala) c.3763T>G (p.Ser1255Ala) c.*416T>G (n.*416T>G) c.*424T>G (n.*424T>G) c.*2138T>G (n.*2138T>G) c.3757T>G (p.Ser1253Ala) c.*3587T>G (n.*3587T>G) c.3337T>G (p.Ser1113Ala) c.511T>G (p.Ser171Ala) c.1550T>G (n.1550T>G) c.345T>G c.1213T>G c.3673T>G (p.Ser1225Ala) c.3853T>G (p.Ser1285Ala) c.3520T>G (p.Ser1174Ala) | |
7 | g.117642483T= | CA1737404754 | CFTR | c.3563T= (p.Ile1188=) c.*3477T= (n.*3477T=) c.3580T= (p.Ser1194=) c.3763T= (p.Ser1255=) c.*416T= (n.*416T=) c.*424T= (n.*424T=) c.*2138T= (n.*2138T=) c.3757T= (p.Ser1253=) c.*3587T= (n.*3587T=) c.3337T= (p.Ser1113=) c.511T= (p.Ser171=) c.1550T= (n.1550T=) c.345T= c.1213T= c.3673T= (p.Ser1225=) c.3853T= (p.Ser1285=) c.3520T= (p.Ser1174=) | |
7 | g.117642484C>A | CA325525 | CFTR | c.3564C>A (p.Ile1188=) c.*3478C>A (n.*3478C>A) c.3581C>A (p.Ser1194Ter) c.3764C>A (p.Ser1255Ter) c.*417C>A (n.*417C>A) c.*425C>A (n.*425C>A) c.*2139C>A (n.*2139C>A) c.3758C>A (p.Ser1253Ter) c.*3588C>A (n.*3588C>A) c.3338C>A (p.Ser1113Ter) c.512C>A (p.Ser171Ter) c.1551C>A (n.1551C>A) c.346C>A c.1214C>A c.3674C>A (p.Ser1225Ter) c.3854C>A (p.Ser1285Ter) c.3521C>A (p.Ser1174Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117642484C= | CA1737404755 | CFTR | c.3564C= (p.Ile1188=) c.*3478C= (n.*3478C=) c.3581C= (p.Ser1194=) c.3764C= (p.Ser1255=) c.*417C= (n.*417C=) c.*425C= (n.*425C=) c.*2139C= (n.*2139C=) c.3758C= (p.Ser1253=) c.*3588C= (n.*3588C=) c.3338C= (p.Ser1113=) c.512C= (p.Ser171=) c.1551C= (n.1551C=) c.346C= c.1214C= c.3674C= (p.Ser1225=) c.3854C= (p.Ser1285=) c.3521C= (p.Ser1174=) | |
7 | g.117642484C>G | CA368974665 | CFTR | c.3564C>G (p.Ile1188Met) c.*3478C>G (n.*3478C>G) c.3581C>G (p.Ser1194Ter) c.3764C>G (p.Ser1255Ter) c.*417C>G (n.*417C>G) c.*425C>G (n.*425C>G) c.*2139C>G (n.*2139C>G) c.3758C>G (p.Ser1253Ter) c.*3588C>G (n.*3588C>G) c.3338C>G (p.Ser1113Ter) c.512C>G (p.Ser171Ter) c.1551C>G (n.1551C>G) c.346C>G c.1214C>G c.3674C>G (p.Ser1225Ter) c.3854C>G (p.Ser1285Ter) c.3521C>G (p.Ser1174Ter) | COSMIC |
7 | g.117642484C>T | CA327282 | CFTR | c.3564C>T (p.Ile1188=) c.*3478C>T (n.*3478C>T) c.3581C>T (p.Ser1194Leu) c.3764C>T (p.Ser1255Leu) c.*417C>T (n.*417C>T) c.*425C>T (n.*425C>T) c.*2139C>T (n.*2139C>T) c.3758C>T (p.Ser1253Leu) c.*3588C>T (n.*3588C>T) c.3338C>T (p.Ser1113Leu) c.512C>T (p.Ser171Leu) c.1551C>T (n.1551C>T) c.346C>T c.1214C>T c.3674C>T (p.Ser1225Leu) c.3854C>T (p.Ser1285Leu) c.3521C>T (p.Ser1174Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117642485A= | CA1737404756 | CFTR | c.3565A= (p.Ser1189=) c.*3479A= (n.*3479A=) c.3582A= (p.Ser1194=) c.3765A= (p.Ser1255=) c.*418A= (n.*418A=) c.*426A= (n.*426A=) c.*2140A= (n.*2140A=) c.3759A= (p.Ser1253=) c.*3589A= (n.*3589A=) c.3339A= (p.Ser1113=) c.513A= (p.Ser171=) c.1552A= (n.1552A=) c.347A= c.1215A= c.3675A= (p.Ser1225=) c.3855A= (p.Ser1285=) c.3522A= (p.Ser1174=) | |
7 | g.117642485A>C | CA457228082 | CFTR | c.3565A>C (p.Ser1189Arg) c.*3479A>C (n.*3479A>C) c.3582A>C (p.Ser1194=) c.3765A>C (p.Ser1255=) c.*418A>C (n.*418A>C) c.*426A>C (n.*426A>C) c.*2140A>C (n.*2140A>C) c.3759A>C (p.Ser1253=) c.*3589A>C (n.*3589A>C) c.3339A>C (p.Ser1113=) c.513A>C (p.Ser171=) c.1552A>C (n.1552A>C) c.347A>C c.1215A>C c.3675A>C (p.Ser1225=) c.3855A>C (p.Ser1285=) c.3522A>C (p.Ser1174=) | |
7 | g.117642485A>G | CA164947550 | CFTR | c.3565A>G (p.Ser1189Gly) c.*3479A>G (n.*3479A>G) c.3582A>G (p.Ser1194=) c.3765A>G (p.Ser1255=) c.*418A>G (n.*418A>G) c.*426A>G (n.*426A>G) c.*2140A>G (n.*2140A>G) c.3759A>G (p.Ser1253=) c.*3589A>G (n.*3589A>G) c.3339A>G (p.Ser1113=) c.513A>G (p.Ser171=) c.1552A>G (n.1552A>G) c.347A>G c.1215A>G c.3675A>G (p.Ser1225=) c.3855A>G (p.Ser1285=) c.3522A>G (p.Ser1174=) | dbSNP gnomAD v4 |
7 | g.117642485A>T | CA457228083 | CFTR | c.3565A>T (p.Ser1189Cys) c.*3479A>T (n.*3479A>T) c.3582A>T (p.Ser1194=) c.3765A>T (p.Ser1255=) c.*418A>T (n.*418A>T) c.*426A>T (n.*426A>T) c.*2140A>T (n.*2140A>T) c.3759A>T (p.Ser1253=) c.*3589A>T (n.*3589A>T) c.3339A>T (p.Ser1113=) c.513A>T (p.Ser171=) c.1552A>T (n.1552A>T) c.347A>T c.1215A>T c.3675A>T (p.Ser1225=) c.3855A>T (p.Ser1285=) c.3522A>T (p.Ser1174=) | |
7 | g.117642486G>A | CA368974670 | CFTR | c.3566G>A (p.Ser1189Asn) c.*3480G>A (n.*3480G>A) c.3583G>A (p.Ala1195Thr) c.3766G>A (p.Ala1256Thr) c.*419G>A (n.*419G>A) c.*427G>A (n.*427G>A) c.*2141G>A (n.*2141G>A) c.3760G>A (p.Ala1254Thr) c.*3590G>A (n.*3590G>A) c.3340G>A (p.Ala1114Thr) c.514G>A (p.Ala172Thr) c.1553G>A (n.1553G>A) c.348G>A c.1216G>A c.3676G>A (p.Ala1226Thr) c.3856G>A (p.Ala1286Thr) c.3523G>A (p.Ala1175Thr) | |
7 | g.117642486G>C | CA368974676 | CFTR | c.3566G>C (p.Ser1189Thr) c.*3480G>C (n.*3480G>C) c.3583G>C (p.Ala1195Pro) c.3766G>C (p.Ala1256Pro) c.*419G>C (n.*419G>C) c.*427G>C (n.*427G>C) c.*2141G>C (n.*2141G>C) c.3760G>C (p.Ala1254Pro) c.*3590G>C (n.*3590G>C) c.3340G>C (p.Ala1114Pro) c.514G>C (p.Ala172Pro) c.1553G>C (n.1553G>C) c.348G>C c.1216G>C c.3676G>C (p.Ala1226Pro) c.3856G>C (p.Ala1286Pro) c.3523G>C (p.Ala1175Pro) | |
7 | g.117642486G= | CA1737404757 | CFTR | c.3566G= (p.Ser1189=) c.*3480G= (n.*3480G=) c.3583G= (p.Ala1195=) c.3766G= (p.Ala1256=) c.*419G= (n.*419G=) c.*427G= (n.*427G=) c.*2141G= (n.*2141G=) c.3760G= (p.Ala1254=) c.*3590G= (n.*3590G=) c.3340G= (p.Ala1114=) c.514G= (p.Ala172=) c.1553G= (n.1553G=) c.348G= c.1216G= c.3676G= (p.Ala1226=) c.3856G= (p.Ala1286=) c.3523G= (p.Ala1175=) | |
7 | g.117642486G>T | CA368974678 | CFTR | c.3566G>T (p.Ser1189Ile) c.*3480G>T (n.*3480G>T) c.3583G>T (p.Ala1195Ser) c.3766G>T (p.Ala1256Ser) c.*419G>T (n.*419G>T) c.*427G>T (n.*427G>T) c.*2141G>T (n.*2141G>T) c.3760G>T (p.Ala1254Ser) c.*3590G>T (n.*3590G>T) c.3340G>T (p.Ala1114Ser) c.514G>T (p.Ala172Ser) c.1553G>T (n.1553G>T) c.348G>T c.1216G>T c.3676G>T (p.Ala1226Ser) c.3856G>T (p.Ala1286Ser) c.3523G>T (p.Ala1175Ser) | |
7 | g.117642487C>A | CA368974688 | CFTR | c.3567C>A (p.Ser1189Arg) c.*3481C>A (n.*3481C>A) c.3584C>A (p.Ala1195Asp) c.3767C>A (p.Ala1256Asp) c.*420C>A (n.*420C>A) c.*428C>A (n.*428C>A) c.*2142C>A (n.*2142C>A) c.3761C>A (p.Ala1254Asp) c.*3591C>A (n.*3591C>A) c.3341C>A (p.Ala1114Asp) c.515C>A (p.Ala172Asp) c.1554C>A (n.1554C>A) c.349C>A c.1217C>A c.3677C>A (p.Ala1226Asp) c.3857C>A (p.Ala1286Asp) c.3524C>A (p.Ala1175Asp) | |
7 | g.117642487C= | CA1737404758 | CFTR | c.3567C= (p.Ser1189=) c.*3481C= (n.*3481C=) c.3584C= (p.Ala1195=) c.3767C= (p.Ala1256=) c.*420C= (n.*420C=) c.*428C= (n.*428C=) c.*2142C= (n.*2142C=) c.3761C= (p.Ala1254=) c.*3591C= (n.*3591C=) c.3341C= (p.Ala1114=) c.515C= (p.Ala172=) c.1554C= (n.1554C=) c.349C= c.1217C= c.3677C= (p.Ala1226=) c.3857C= (p.Ala1286=) c.3524C= (p.Ala1175=) | |
7 | g.117642487C>G | CA368974691 | CFTR | c.3567C>G (p.Ser1189Arg) c.*3481C>G (n.*3481C>G) c.3584C>G (p.Ala1195Gly) c.3767C>G (p.Ala1256Gly) c.*420C>G (n.*420C>G) c.*428C>G (n.*428C>G) c.*2142C>G (n.*2142C>G) c.3761C>G (p.Ala1254Gly) c.*3591C>G (n.*3591C>G) c.3341C>G (p.Ala1114Gly) c.515C>G (p.Ala172Gly) c.1554C>G (n.1554C>G) c.349C>G c.1217C>G c.3677C>G (p.Ala1226Gly) c.3857C>G (p.Ala1286Gly) c.3524C>G (p.Ala1175Gly) | ClinVar dbSNP |
7 | g.117642487C>T | CA4451543 | CFTR | c.3567C>T (p.Ser1189=) c.*3481C>T (n.*3481C>T) c.3584C>T (p.Ala1195Val) c.3767C>T (p.Ala1256Val) c.*420C>T (n.*420C>T) c.*428C>T (n.*428C>T) c.*2142C>T (n.*2142C>T) c.3761C>T (p.Ala1254Val) c.*3591C>T (n.*3591C>T) c.3341C>T (p.Ala1114Val) c.515C>T (p.Ala172Val) c.1554C>T (n.1554C>T) c.349C>T c.1217C>T c.3677C>T (p.Ala1226Val) c.3857C>T (p.Ala1286Val) c.3524C>T (p.Ala1175Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117642487dup | CA325569 | CFTR | c.3567dup (p.Phe1190LeufsTer3) c.*3481dup (n.*3481dup) c.3584dup (p.Leu1197PhefsTer7) c.3767dup (p.Leu1258PhefsTer7) c.*420dup (n.*420dup) c.*428dup (n.*428dup) c.*2142dup (n.*2142dup) c.3761dup (p.Leu1256PhefsTer7) c.*3591dup (n.*3591dup) c.3341dup (p.Leu1116PhefsTer7) c.515dup (p.Leu174PhefsTer7) c.1554dup (n.1554dup) c.349dup c.1217dup c.3677dup (p.Leu1228PhefsTer7) c.3857dup (p.Leu1288PhefsTer7) c.3524dup (p.Leu1177PhefsTer7) | ClinVar dbSNP |
7 | g.117642488T>A | CA457228086 | CFTR | c.3568T>A (p.Phe1190Ile) c.*3482T>A (n.*3482T>A) c.3585T>A (p.Ala1195=) c.3768T>A (p.Ala1256=) c.*421T>A (n.*421T>A) c.*429T>A (n.*429T>A) c.*2143T>A (n.*2143T>A) c.3762T>A (p.Ala1254=) c.*3592T>A (n.*3592T>A) c.3342T>A (p.Ala1114=) c.516T>A (p.Ala172=) c.1555T>A (n.1555T>A) c.350T>A c.1218T>A c.3678T>A (p.Ala1226=) c.3858T>A (p.Ala1286=) c.3525T>A (p.Ala1175=) | 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=) |