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.117642433_117642445del | CA2499218698 | CFTR | c.3518-5_3525del c.*3432-5_*3439del c.3535-5_3542del c.3718-5_3725del c.*371-5_*378del c.*379-5_*386del c.*2093-5_*2100del c.3712-5_3719del c.*3542-5_*3549del c.3292-5_3299del c.466-5_473del c.1505-5_1512del c.300-5_307del c.1168-5_1175del c.3628-5_3635del c.3808-5_3815del c.3475-5_3482del | ClinVar dbSNP |
7 | g.117642443C>A | CA4451540 | CFTR | c.3523C>A (p.Pro1175Thr) c.*3437C>A (n.*3437C>A) c.3540C>A (p.Gly1180=) c.3723C>A (p.Gly1241=) c.*376C>A (n.*376C>A) c.*384C>A (n.*384C>A) c.*2098C>A (n.*2098C>A) c.3717C>A (p.Gly1239=) c.*3547C>A (n.*3547C>A) c.3297C>A (p.Gly1099=) c.471C>A (p.Gly157=) c.1510C>A (n.1510C>A) c.305C>A c.1173C>A c.3633C>A (p.Gly1211=) c.3813C>A (p.Gly1271=) c.3480C>A (p.Gly1160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642443C= | CA1737404727 | CFTR | c.3523C= (p.Pro1175=) c.*3437C= (n.*3437C=) c.3540C= (p.Gly1180=) c.3723C= (p.Gly1241=) c.*376C= (n.*376C=) c.*384C= (n.*384C=) c.*2098C= (n.*2098C=) c.3717C= (p.Gly1239=) c.*3547C= (n.*3547C=) c.3297C= (p.Gly1099=) c.471C= (p.Gly157=) c.1510C= (n.1510C=) c.305C= c.1173C= c.3633C= (p.Gly1211=) c.3813C= (p.Gly1271=) c.3480C= (p.Gly1160=) | |
7 | g.117642443C>G | CA457228056 | CFTR | c.3523C>G (p.Pro1175Ala) c.*3437C>G (n.*3437C>G) c.3540C>G (p.Gly1180=) c.3723C>G (p.Gly1241=) c.*376C>G (n.*376C>G) c.*384C>G (n.*384C>G) c.*2098C>G (n.*2098C>G) c.3717C>G (p.Gly1239=) c.*3547C>G (n.*3547C>G) c.3297C>G (p.Gly1099=) c.471C>G (p.Gly157=) c.1510C>G (n.1510C>G) c.305C>G c.1173C>G c.3633C>G (p.Gly1211=) c.3813C>G (p.Gly1271=) c.3480C>G (p.Gly1160=) | |
7 | g.117642443C>T | CA164947466 | CFTR | c.3523C>T (p.Pro1175Ser) c.*3437C>T (n.*3437C>T) c.3540C>T (p.Gly1180=) c.3723C>T (p.Gly1241=) c.*376C>T (n.*376C>T) c.*384C>T (n.*384C>T) c.*2098C>T (n.*2098C>T) c.3717C>T (p.Gly1239=) c.*3547C>T (n.*3547C>T) c.3297C>T (p.Gly1099=) c.471C>T (p.Gly157=) c.1510C>T (n.1510C>T) c.305C>T c.1173C>T c.3633C>T (p.Gly1211=) c.3813C>T (p.Gly1271=) c.3480C>T (p.Gly1160=) | dbSNP |
7 | g.117642444C>A | CA368974425 | CFTR | c.3524C>A (p.Pro1175His) c.*3438C>A (n.*3438C>A) c.3541C>A (p.Leu1181Ile) c.3724C>A (p.Leu1242Ile) c.*377C>A (n.*377C>A) c.*385C>A (n.*385C>A) c.*2099C>A (n.*2099C>A) c.3718C>A (p.Leu1240Ile) c.*3548C>A (n.*3548C>A) c.3298C>A (p.Leu1100Ile) c.472C>A (p.Leu158Ile) c.1511C>A (n.1511C>A) c.306C>A c.1174C>A c.3634C>A (p.Leu1212Ile) c.3814C>A (p.Leu1272Ile) c.3481C>A (p.Leu1161Ile) | |
7 | g.117642444C= | CA1737404728 | CFTR | c.3524C= (p.Pro1175=) c.*3438C= (n.*3438C=) c.3541C= (p.Leu1181=) c.3724C= (p.Leu1242=) c.*377C= (n.*377C=) c.*385C= (n.*385C=) c.*2099C= (n.*2099C=) c.3718C= (p.Leu1240=) c.*3548C= (n.*3548C=) c.3298C= (p.Leu1100=) c.472C= (p.Leu158=) c.1511C= (n.1511C=) c.306C= c.1174C= c.3634C= (p.Leu1212=) c.3814C= (p.Leu1272=) c.3481C= (p.Leu1161=) | |
7 | g.117642444C>G | CA368974427 | CFTR | c.3524C>G (p.Pro1175Arg) c.*3438C>G (n.*3438C>G) c.3541C>G (p.Leu1181Val) c.3724C>G (p.Leu1242Val) c.*377C>G (n.*377C>G) c.*385C>G (n.*385C>G) c.*2099C>G (n.*2099C>G) c.3718C>G (p.Leu1240Val) c.*3548C>G (n.*3548C>G) c.3298C>G (p.Leu1100Val) c.472C>G (p.Leu158Val) c.1511C>G (n.1511C>G) c.306C>G c.1174C>G c.3634C>G (p.Leu1212Val) c.3814C>G (p.Leu1272Val) c.3481C>G (p.Leu1161Val) | |
7 | g.117642444C>T | CA368974429 | CFTR | c.3524C>T (p.Pro1175Leu) c.*3438C>T (n.*3438C>T) c.3541C>T (p.Leu1181Phe) c.3724C>T (p.Leu1242Phe) c.*377C>T (n.*377C>T) c.*385C>T (n.*385C>T) c.*2099C>T (n.*2099C>T) c.3718C>T (p.Leu1240Phe) c.*3548C>T (n.*3548C>T) c.3298C>T (p.Leu1100Phe) c.472C>T (p.Leu158Phe) c.1511C>T (n.1511C>T) c.306C>T c.1174C>T c.3634C>T (p.Leu1212Phe) c.3814C>T (p.Leu1272Phe) c.3481C>T (p.Leu1161Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117642445del | CA2573141565 | CFTR | c.3525del (p.Lys1178ArgfsTer?) c.*3439del (n.*3439del) c.3542del (p.Leu1181ProfsTer17) c.3725del (p.Leu1242ProfsTer17) c.*378del (n.*378del) c.*386del (n.*386del) c.*2100del (n.*2100del) c.3719del (p.Leu1240ProfsTer17) c.*3549del (n.*3549del) c.3299del (p.Leu1100ProfsTer17) c.473del (p.Leu158ProfsTer17) c.1512del (n.1512del) c.307del c.1175del c.3635del (p.Leu1212ProfsTer17) c.3815del (p.Leu1272ProfsTer17) c.3482del (p.Leu1161ProfsTer17) | ClinVar dbSNP |
7 | g.117642445T>A | CA368974433 | CFTR | c.3525T>A (p.Pro1175=) c.*3439T>A (n.*3439T>A) c.3542T>A (p.Leu1181His) c.3725T>A (p.Leu1242His) c.*378T>A (n.*378T>A) c.*386T>A (n.*386T>A) c.*2100T>A (n.*2100T>A) c.3719T>A (p.Leu1240His) c.*3549T>A (n.*3549T>A) c.3299T>A (p.Leu1100His) c.473T>A (p.Leu158His) c.1512T>A (n.1512T>A) c.307T>A c.1175T>A c.3635T>A (p.Leu1212His) c.3815T>A (p.Leu1272His) c.3482T>A (p.Leu1161His) | ClinVar |
7 | g.117642445T>C | CA368974436 | CFTR | c.3525T>C (p.Pro1175=) c.*3439T>C (n.*3439T>C) c.3542T>C (p.Leu1181Pro) c.3725T>C (p.Leu1242Pro) c.*378T>C (n.*378T>C) c.*386T>C (n.*386T>C) c.*2100T>C (n.*2100T>C) c.3719T>C (p.Leu1240Pro) c.*3549T>C (n.*3549T>C) c.3299T>C (p.Leu1100Pro) c.473T>C (p.Leu158Pro) c.1512T>C (n.1512T>C) c.307T>C c.1175T>C c.3635T>C (p.Leu1212Pro) c.3815T>C (p.Leu1272Pro) c.3482T>C (p.Leu1161Pro) | |
7 | g.117642445T>G | CA368974432 | CFTR | c.3525T>G (p.Pro1175=) c.*3439T>G (n.*3439T>G) c.3542T>G (p.Leu1181Arg) c.3725T>G (p.Leu1242Arg) c.*378T>G (n.*378T>G) c.*386T>G (n.*386T>G) c.*2100T>G (n.*2100T>G) c.3719T>G (p.Leu1240Arg) c.*3549T>G (n.*3549T>G) c.3299T>G (p.Leu1100Arg) c.473T>G (p.Leu158Arg) c.1512T>G (n.1512T>G) c.307T>G c.1175T>G c.3635T>G (p.Leu1212Arg) c.3815T>G (p.Leu1272Arg) c.3482T>G (p.Leu1161Arg) | |
7 | g.117642446C>A | CA457228058 | CFTR | c.3526C>A (p.Leu1176Ile) c.*3440C>A (n.*3440C>A) c.3543C>A (p.Leu1181=) c.3726C>A (p.Leu1242=) c.*379C>A (n.*379C>A) c.*387C>A (n.*387C>A) c.*2101C>A (n.*2101C>A) c.3720C>A (p.Leu1240=) c.*3550C>A (n.*3550C>A) c.3300C>A (p.Leu1100=) c.474C>A (p.Leu158=) c.1513C>A (n.1513C>A) c.308C>A c.1176C>A c.3636C>A (p.Leu1212=) c.3816C>A (p.Leu1272=) c.3483C>A (p.Leu1161=) | |
7 | g.117642446C= | CA1737404729 | CFTR | c.3526C= (p.Leu1176=) c.*3440C= (n.*3440C=) c.3543C= (p.Leu1181=) c.3726C= (p.Leu1242=) c.*379C= (n.*379C=) c.*387C= (n.*387C=) c.*2101C= (n.*2101C=) c.3720C= (p.Leu1240=) c.*3550C= (n.*3550C=) c.3300C= (p.Leu1100=) c.474C= (p.Leu158=) c.1513C= (n.1513C=) c.308C= c.1176C= c.3636C= (p.Leu1212=) c.3816C= (p.Leu1272=) c.3483C= (p.Leu1161=) | |
7 | g.117642446C>G | CA457228057 | CFTR | c.3526C>G (p.Leu1176Val) c.*3440C>G (n.*3440C>G) c.3543C>G (p.Leu1181=) c.3726C>G (p.Leu1242=) c.*379C>G (n.*379C>G) c.*387C>G (n.*387C>G) c.*2101C>G (n.*2101C>G) c.3720C>G (p.Leu1240=) c.*3550C>G (n.*3550C>G) c.3300C>G (p.Leu1100=) c.474C>G (p.Leu158=) c.1513C>G (n.1513C>G) c.308C>G c.1176C>G c.3636C>G (p.Leu1212=) c.3816C>G (p.Leu1272=) c.3483C>G (p.Leu1161=) | ClinVar dbSNP |
7 | g.117642446C>T | CA4451541 | CFTR | c.3526C>T (p.Leu1176Phe) c.*3440C>T (n.*3440C>T) c.3543C>T (p.Leu1181=) c.3726C>T (p.Leu1242=) c.*379C>T (n.*379C>T) c.*387C>T (n.*387C>T) c.*2101C>T (n.*2101C>T) c.3720C>T (p.Leu1240=) c.*3550C>T (n.*3550C>T) c.3300C>T (p.Leu1100=) c.474C>T (p.Leu158=) c.1513C>T (n.1513C>T) c.308C>T c.1176C>T c.3636C>T (p.Leu1212=) c.3816C>T (p.Leu1272=) c.3483C>T (p.Leu1161=) | ClinVar dbSNP ExAC gnomAD v2 |
7 | g.117642447T>A | CA368974440 | CFTR | c.3527T>A (p.Leu1176His) c.*3441T>A (n.*3441T>A) c.3544T>A (p.Leu1182Met) c.3727T>A (p.Leu1243Met) c.*380T>A (n.*380T>A) c.*388T>A (n.*388T>A) c.*2102T>A (n.*2102T>A) c.3721T>A (p.Leu1241Met) c.*3551T>A (n.*3551T>A) c.3301T>A (p.Leu1101Met) c.475T>A (p.Leu159Met) c.1514T>A (n.1514T>A) c.309T>A c.1177T>A c.3637T>A (p.Leu1213Met) c.3817T>A (p.Leu1273Met) c.3484T>A (p.Leu1162Met) | |
7 | g.117642447T>C | CA457228059 | CFTR | c.3527T>C (p.Leu1176Pro) c.*3441T>C (n.*3441T>C) c.3544T>C (p.Leu1182=) c.3727T>C (p.Leu1243=) c.*380T>C (n.*380T>C) c.*388T>C (n.*388T>C) c.*2102T>C (n.*2102T>C) c.3721T>C (p.Leu1241=) c.*3551T>C (n.*3551T>C) c.3301T>C (p.Leu1101=) c.475T>C (p.Leu159=) c.1514T>C (n.1514T>C) c.309T>C c.1177T>C c.3637T>C (p.Leu1213=) c.3817T>C (p.Leu1273=) c.3484T>C (p.Leu1162=) | ClinVar dbSNP gnomAD v4 |
7 | g.117642447T>G | CA368974442 | CFTR | c.3527T>G (p.Leu1176Arg) c.*3441T>G (n.*3441T>G) c.3544T>G (p.Leu1182Val) c.3727T>G (p.Leu1243Val) c.*380T>G (n.*380T>G) c.*388T>G (n.*388T>G) c.*2102T>G (n.*2102T>G) c.3721T>G (p.Leu1241Val) c.*3551T>G (n.*3551T>G) c.3301T>G (p.Leu1101Val) c.475T>G (p.Leu159Val) c.1514T>G (n.1514T>G) c.309T>G c.1177T>G c.3637T>G (p.Leu1213Val) c.3817T>G (p.Leu1273Val) c.3484T>G (p.Leu1162Val) | dbSNP |
7 | g.117642447T= | CA1737404730 | CFTR | c.3527T= (p.Leu1176=) c.*3441T= (n.*3441T=) c.3544T= (p.Leu1182=) c.3727T= (p.Leu1243=) c.*380T= (n.*380T=) c.*388T= (n.*388T=) c.*2102T= (n.*2102T=) c.3721T= (p.Leu1241=) c.*3551T= (n.*3551T=) c.3301T= (p.Leu1101=) c.475T= (p.Leu159=) c.1514T= (n.1514T=) c.309T= c.1177T= c.3637T= (p.Leu1213=) c.3817T= (p.Leu1273=) c.3484T= (p.Leu1162=) | |
7 | g.117642448T>A | CA368974444 | CFTR | c.3528T>A (p.Leu1176=) c.*3442T>A (n.*3442T>A) c.3545T>A (p.Leu1182Ter) c.3728T>A (p.Leu1243Ter) c.*381T>A (n.*381T>A) c.*389T>A (n.*389T>A) c.*2103T>A (n.*2103T>A) c.3722T>A (p.Leu1241Ter) c.*3552T>A (n.*3552T>A) c.3302T>A (p.Leu1101Ter) c.476T>A (p.Leu159Ter) c.1515T>A (n.1515T>A) c.310T>A c.1178T>A c.3638T>A (p.Leu1213Ter) c.3818T>A (p.Leu1273Ter) c.3485T>A (p.Leu1162Ter) | ClinVar dbSNP |
7 | g.117642448T>C | CA368974446 | CFTR | c.3528T>C (p.Leu1176=) c.*3442T>C (n.*3442T>C) c.3545T>C (p.Leu1182Ser) c.3728T>C (p.Leu1243Ser) c.*381T>C (n.*381T>C) c.*389T>C (n.*389T>C) c.*2103T>C (n.*2103T>C) c.3722T>C (p.Leu1241Ser) c.*3552T>C (n.*3552T>C) c.3302T>C (p.Leu1101Ser) c.476T>C (p.Leu159Ser) c.1515T>C (n.1515T>C) c.310T>C c.1178T>C c.3638T>C (p.Leu1213Ser) c.3818T>C (p.Leu1273Ser) c.3485T>C (p.Leu1162Ser) | |
7 | g.117642448T>G | CA368974448 | CFTR | c.3528T>G (p.Leu1176=) c.*3442T>G (n.*3442T>G) c.3545T>G (p.Leu1182Trp) c.3728T>G (p.Leu1243Trp) c.*381T>G (n.*381T>G) c.*389T>G (n.*389T>G) c.*2103T>G (n.*2103T>G) c.3722T>G (p.Leu1241Trp) c.*3552T>G (n.*3552T>G) c.3302T>G (p.Leu1101Trp) c.476T>G (p.Leu159Trp) c.1515T>G (n.1515T>G) c.310T>G c.1178T>G c.3638T>G (p.Leu1213Trp) c.3818T>G (p.Leu1273Trp) c.3485T>G (p.Leu1162Trp) | ClinVar gnomAD v4 |
7 | g.117642448T= | CA1737404731 | CFTR | c.3528T= (p.Leu1176=) c.*3442T= (n.*3442T=) c.3545T= (p.Leu1182=) c.3728T= (p.Leu1243=) c.*381T= (n.*381T=) c.*389T= (n.*389T=) c.*2103T= (n.*2103T=) c.3722T= (p.Leu1241=) c.*3552T= (n.*3552T=) c.3302T= (p.Leu1101=) c.476T= (p.Leu159=) c.1515T= (n.1515T=) c.310T= c.1178T= c.3638T= (p.Leu1213=) c.3818T= (p.Leu1273=) c.3485T= (p.Leu1162=) | |
7 | g.117642448_117642463dup | CA2695205217 | CFTR | c.3528_3543dup (p.Arg1182TrpfsTer16) c.*3442_*3457dup (n.*3442_*3457dup) c.3545_3560dup (p.Ser1190AsnfsTer19) c.3728_3743dup (p.Ser1251AsnfsTer19) c.*381_*396dup (n.*381_*396dup) c.*389_*404dup (n.*389_*404dup) c.*2103_*2118dup (n.*2103_*2118dup) c.3722_3737dup (p.Ser1249AsnfsTer19) c.*3552_*3567dup (n.*3552_*3567dup) c.3302_3317dup (p.Ser1109AsnfsTer19) c.476_491dup (p.Ser167AsnfsTer19) c.1515_1530dup (n.1515_1530dup) c.310_325dup c.1178_1193dup c.3638_3653dup (p.Ser1221AsnfsTer19) c.3818_3833dup (p.Ser1281AsnfsTer19) c.3485_3500dup (p.Ser1170AsnfsTer19) | |
7 | g.117642449G>A | CA457228060 | CFTR | c.3529G>A (p.Gly1177Arg) c.*3443G>A (n.*3443G>A) c.3546G>A (p.Leu1182=) c.3729G>A (p.Leu1243=) c.*382G>A (n.*382G>A) c.*390G>A (n.*390G>A) c.*2104G>A (n.*2104G>A) c.3723G>A (p.Leu1241=) c.*3553G>A (n.*3553G>A) c.3303G>A (p.Leu1101=) c.477G>A (p.Leu159=) c.1516G>A (n.1516G>A) c.311G>A c.1179G>A c.3639G>A (p.Leu1213=) c.3819G>A (p.Leu1273=) c.3486G>A (p.Leu1162=) | |
7 | g.117642449G>C | CA368974449 | CFTR | c.3529G>C (p.Gly1177Arg) c.*3443G>C (n.*3443G>C) c.3546G>C (p.Leu1182Phe) c.3729G>C (p.Leu1243Phe) c.*382G>C (n.*382G>C) c.*390G>C (n.*390G>C) c.*2104G>C (n.*2104G>C) c.3723G>C (p.Leu1241Phe) c.*3553G>C (n.*3553G>C) c.3303G>C (p.Leu1101Phe) c.477G>C (p.Leu159Phe) c.1516G>C (n.1516G>C) c.311G>C c.1179G>C c.3639G>C (p.Leu1213Phe) c.3819G>C (p.Leu1273Phe) c.3486G>C (p.Leu1162Phe) | |
7 | g.117642449G>T | CA368974451 | CFTR | c.3529G>T (p.Gly1177Trp) c.*3443G>T (n.*3443G>T) c.3546G>T (p.Leu1182Phe) c.3729G>T (p.Leu1243Phe) c.*382G>T (n.*382G>T) c.*390G>T (n.*390G>T) c.*2104G>T (n.*2104G>T) c.3723G>T (p.Leu1241Phe) c.*3553G>T (n.*3553G>T) c.3303G>T (p.Leu1101Phe) c.477G>T (p.Leu159Phe) c.1516G>T (n.1516G>T) c.311G>T c.1179G>T c.3639G>T (p.Leu1213Phe) c.3819G>T (p.Leu1273Phe) c.3486G>T (p.Leu1162Phe) | |
7 | g.117642450G>A | CA327264 | CFTR | c.3530G>A (p.Gly1177Glu) c.*3444G>A (n.*3444G>A) c.3547G>A (p.Gly1183Arg) c.3730G>A (p.Gly1244Arg) c.*383G>A (n.*383G>A) c.*391G>A (n.*391G>A) c.*2105G>A (n.*2105G>A) c.3724G>A (p.Gly1242Arg) c.*3554G>A (n.*3554G>A) c.3304G>A (p.Gly1102Arg) c.478G>A (p.Gly160Arg) c.1517G>A (n.1517G>A) c.312G>A c.1180G>A c.3640G>A (p.Gly1214Arg) c.3820G>A (p.Gly1274Arg) c.3487G>A (p.Gly1163Arg) | ClinVar dbSNP |
7 | g.117642450G>C | CA368974453 | CFTR | c.3530G>C (p.Gly1177Ala) c.*3444G>C (n.*3444G>C) c.3547G>C (p.Gly1183Arg) c.3730G>C (p.Gly1244Arg) c.*383G>C (n.*383G>C) c.*391G>C (n.*391G>C) c.*2105G>C (n.*2105G>C) c.3724G>C (p.Gly1242Arg) c.*3554G>C (n.*3554G>C) c.3304G>C (p.Gly1102Arg) c.478G>C (p.Gly160Arg) c.1517G>C (n.1517G>C) c.312G>C c.1180G>C c.3640G>C (p.Gly1214Arg) c.3820G>C (p.Gly1274Arg) c.3487G>C (p.Gly1163Arg) | |
7 | g.117642450G= | CA1737404732 | CFTR | c.3530G= (p.Gly1177=) c.*3444G= (n.*3444G=) c.3547G= (p.Gly1183=) c.3730G= (p.Gly1244=) c.*383G= (n.*383G=) c.*391G= (n.*391G=) c.*2105G= (n.*2105G=) c.3724G= (p.Gly1242=) c.*3554G= (n.*3554G=) c.3304G= (p.Gly1102=) c.478G= (p.Gly160=) c.1517G= (n.1517G=) c.312G= c.1180G= c.3640G= (p.Gly1214=) c.3820G= (p.Gly1274=) c.3487G= (p.Gly1163=) | |
7 | g.117642450G>T | CA368974454 | CFTR | c.3530G>T (p.Gly1177Val) c.*3444G>T (n.*3444G>T) c.3547G>T (p.Gly1183Ter) c.3730G>T (p.Gly1244Ter) c.*383G>T (n.*383G>T) c.*391G>T (n.*391G>T) c.*2105G>T (n.*2105G>T) c.3724G>T (p.Gly1242Ter) c.*3554G>T (n.*3554G>T) c.3304G>T (p.Gly1102Ter) c.478G>T (p.Gly160Ter) c.1517G>T (n.1517G>T) c.312G>T c.1180G>T c.3640G>T (p.Gly1214Ter) c.3820G>T (p.Gly1274Ter) c.3487G>T (p.Gly1163Ter) | |
7 | g.117642451G>A | CA328120 | CFTR | c.3531G>A (p.Gly1177=) c.*3445G>A (n.*3445G>A) c.3548G>A (p.Gly1183Glu) c.3731G>A (p.Gly1244Glu) c.*384G>A (n.*384G>A) c.*392G>A (n.*392G>A) c.*2106G>A (n.*2106G>A) c.3725G>A (p.Gly1242Glu) c.*3555G>A (n.*3555G>A) c.3305G>A (p.Gly1102Glu) c.479G>A (p.Gly160Glu) c.1518G>A (n.1518G>A) c.313G>A c.1181G>A c.3641G>A (p.Gly1214Glu) c.3821G>A (p.Gly1274Glu) c.3488G>A (p.Gly1163Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642451G>C | CA368974455 | CFTR | c.3531G>C (p.Gly1177=) c.*3445G>C (n.*3445G>C) c.3548G>C (p.Gly1183Ala) c.3731G>C (p.Gly1244Ala) c.*384G>C (n.*384G>C) c.*392G>C (n.*392G>C) c.*2106G>C (n.*2106G>C) c.3725G>C (p.Gly1242Ala) c.*3555G>C (n.*3555G>C) c.3305G>C (p.Gly1102Ala) c.479G>C (p.Gly160Ala) c.1518G>C (n.1518G>C) c.313G>C c.1181G>C c.3641G>C (p.Gly1214Ala) c.3821G>C (p.Gly1274Ala) c.3488G>C (p.Gly1163Ala) | |
7 | g.117642451G= | CA1737404733 | CFTR | c.3531G= (p.Gly1177=) c.*3445G= (n.*3445G=) c.3548G= (p.Gly1183=) c.3731G= (p.Gly1244=) c.*384G= (n.*384G=) c.*392G= (n.*392G=) c.*2106G= (n.*2106G=) c.3725G= (p.Gly1242=) c.*3555G= (n.*3555G=) c.3305G= (p.Gly1102=) c.479G= (p.Gly160=) c.1518G= (n.1518G=) c.313G= c.1181G= c.3641G= (p.Gly1214=) c.3821G= (p.Gly1274=) c.3488G= (p.Gly1163=) | |
7 | g.117642451G>T | CA327266 | CFTR | c.3531G>T (p.Gly1177=) c.*3445G>T (n.*3445G>T) c.3548G>T (p.Gly1183Val) c.3731G>T (p.Gly1244Val) c.*384G>T (n.*384G>T) c.*392G>T (n.*392G>T) c.*2106G>T (n.*2106G>T) c.3725G>T (p.Gly1242Val) c.*3555G>T (n.*3555G>T) c.3305G>T (p.Gly1102Val) c.479G>T (p.Gly160Val) c.1518G>T (n.1518G>T) c.313G>T c.1181G>T c.3641G>T (p.Gly1214Val) c.3821G>T (p.Gly1274Val) c.3488G>T (p.Gly1163Val) | ClinVar dbSNP |
7 | g.117642452A>C | CA457228061 | CFTR | c.3532A>C (p.Lys1178Gln) c.*3446A>C (n.*3446A>C) c.3549A>C (p.Gly1183=) c.3732A>C (p.Gly1244=) c.*385A>C (n.*385A>C) c.*393A>C (n.*393A>C) c.*2107A>C (n.*2107A>C) c.3726A>C (p.Gly1242=) c.*3556A>C (n.*3556A>C) c.3306A>C (p.Gly1102=) c.480A>C (p.Gly160=) c.1519A>C (n.1519A>C) c.314A>C c.1182A>C c.3642A>C (p.Gly1214=) c.3822A>C (p.Gly1274=) c.3489A>C (p.Gly1163=) | gnomAD v4 |
7 | g.117642452A>G | CA457228062 | CFTR | c.3532A>G (p.Lys1178Glu) c.*3446A>G (n.*3446A>G) c.3549A>G (p.Gly1183=) c.3732A>G (p.Gly1244=) c.*385A>G (n.*385A>G) c.*393A>G (n.*393A>G) c.*2107A>G (n.*2107A>G) c.3726A>G (p.Gly1242=) c.*3556A>G (n.*3556A>G) c.3306A>G (p.Gly1102=) c.480A>G (p.Gly160=) c.1519A>G (n.1519A>G) c.314A>G c.1182A>G c.3642A>G (p.Gly1214=) c.3822A>G (p.Gly1274=) c.3489A>G (p.Gly1163=) | |
7 | g.117642452A>T | CA457228063 | CFTR | c.3532A>T (p.Lys1178Ter) c.*3446A>T (n.*3446A>T) c.3549A>T (p.Gly1183=) c.3732A>T (p.Gly1244=) c.*385A>T (n.*385A>T) c.*393A>T (n.*393A>T) c.*2107A>T (n.*2107A>T) c.3726A>T (p.Gly1242=) c.*3556A>T (n.*3556A>T) c.3306A>T (p.Gly1102=) c.480A>T (p.Gly160=) c.1519A>T (n.1519A>T) c.314A>T c.1182A>T c.3642A>T (p.Gly1214=) c.3822A>T (p.Gly1274=) c.3489A>T (p.Gly1163=) | |
7 | g.117642453A>C | CA457228064 | CFTR | c.3533A>C (p.Lys1178Thr) c.*3447A>C (n.*3447A>C) c.3550A>C (p.Arg1184=) c.3733A>C (p.Arg1245=) c.*386A>C (n.*386A>C) c.*394A>C (n.*394A>C) c.*2108A>C (n.*2108A>C) c.3727A>C (p.Arg1243=) c.*3557A>C (n.*3557A>C) c.3307A>C (p.Arg1103=) c.481A>C (p.Arg161=) c.1520A>C (n.1520A>C) c.315A>C c.1183A>C c.3643A>C (p.Arg1215=) c.3823A>C (p.Arg1275=) c.3490A>C (p.Arg1164=) | |
7 | g.117642453A>G | CA368974462 | CFTR | c.3533A>G (p.Lys1178Arg) c.*3447A>G (n.*3447A>G) c.3550A>G (p.Arg1184Gly) c.3733A>G (p.Arg1245Gly) c.*386A>G (n.*386A>G) c.*394A>G (n.*394A>G) c.*2108A>G (n.*2108A>G) c.3727A>G (p.Arg1243Gly) c.*3557A>G (n.*3557A>G) c.3307A>G (p.Arg1103Gly) c.481A>G (p.Arg161Gly) c.1520A>G (n.1520A>G) c.315A>G c.1183A>G c.3643A>G (p.Arg1215Gly) c.3823A>G (p.Arg1275Gly) c.3490A>G (p.Arg1164Gly) | |
7 | g.117642453A>T | CA368974460 | CFTR | c.3533A>T (p.Lys1178Met) c.*3447A>T (n.*3447A>T) c.3550A>T (p.Arg1184Ter) c.3733A>T (p.Arg1245Ter) c.*386A>T (n.*386A>T) c.*394A>T (n.*394A>T) c.*2108A>T (n.*2108A>T) c.3727A>T (p.Arg1243Ter) c.*3557A>T (n.*3557A>T) c.3307A>T (p.Arg1103Ter) c.481A>T (p.Arg161Ter) c.1520A>T (n.1520A>T) c.315A>T c.1183A>T c.3643A>T (p.Arg1215Ter) c.3823A>T (p.Arg1275Ter) c.3490A>T (p.Arg1164Ter) | |
7 | g.117642454G>A | CA368974465 | CFTR | c.3534G>A (p.Lys1178=) c.*3448G>A (n.*3448G>A) c.3551G>A (p.Arg1184Lys) c.3734G>A (p.Arg1245Lys) c.*387G>A (n.*387G>A) c.*395G>A (n.*395G>A) c.*2109G>A (n.*2109G>A) c.3728G>A (p.Arg1243Lys) c.*3558G>A (n.*3558G>A) c.3308G>A (p.Arg1103Lys) c.482G>A (p.Arg161Lys) c.1521G>A (n.1521G>A) c.316G>A c.1184G>A c.3644G>A (p.Arg1215Lys) c.3824G>A (p.Arg1275Lys) c.3491G>A (p.Arg1164Lys) | |
7 | g.117642454G>C | CA368974466 | CFTR | c.3534G>C (p.Lys1178Asn) c.*3448G>C (n.*3448G>C) c.3551G>C (p.Arg1184Thr) c.3734G>C (p.Arg1245Thr) c.*387G>C (n.*387G>C) c.*395G>C (n.*395G>C) c.*2109G>C (n.*2109G>C) c.3728G>C (p.Arg1243Thr) c.*3558G>C (n.*3558G>C) c.3308G>C (p.Arg1103Thr) c.482G>C (p.Arg161Thr) c.1521G>C (n.1521G>C) c.316G>C c.1184G>C c.3644G>C (p.Arg1215Thr) c.3824G>C (p.Arg1275Thr) c.3491G>C (p.Arg1164Thr) | |
7 | g.117642454G>T | CA368974469 | CFTR | c.3534G>T (p.Lys1178Asn) c.*3448G>T (n.*3448G>T) c.3551G>T (p.Arg1184Ile) c.3734G>T (p.Arg1245Ile) c.*387G>T (n.*387G>T) c.*395G>T (n.*395G>T) c.*2109G>T (n.*2109G>T) c.3728G>T (p.Arg1243Ile) c.*3558G>T (n.*3558G>T) c.3308G>T (p.Arg1103Ile) c.482G>T (p.Arg161Ile) c.1521G>T (n.1521G>T) c.316G>T c.1184G>T c.3644G>T (p.Arg1215Ile) c.3824G>T (p.Arg1275Ile) c.3491G>T (p.Arg1164Ile) | |
7 | g.117642455A= | CA1737404734 | CFTR | c.3535A= (p.Asn1179=) c.*3449A= (n.*3449A=) c.3552A= (p.Arg1184=) c.3735A= (p.Arg1245=) c.*388A= (n.*388A=) c.*396A= (n.*396A=) c.*2110A= (n.*2110A=) c.3729A= (p.Arg1243=) c.*3559A= (n.*3559A=) c.3309A= (p.Arg1103=) c.483A= (p.Arg161=) c.1522A= (n.1522A=) c.317A= c.1185A= c.3645A= (p.Arg1215=) c.3825A= (p.Arg1275=) c.3492A= (p.Arg1164=) | |
7 | g.117642455A>C | CA368974472 | CFTR | c.3535A>C (p.Asn1179His) c.*3449A>C (n.*3449A>C) c.3552A>C (p.Arg1184Ser) c.3735A>C (p.Arg1245Ser) c.*388A>C (n.*388A>C) c.*396A>C (n.*396A>C) c.*2110A>C (n.*2110A>C) c.3729A>C (p.Arg1243Ser) c.*3559A>C (n.*3559A>C) c.3309A>C (p.Arg1103Ser) c.483A>C (p.Arg161Ser) c.1522A>C (n.1522A>C) c.317A>C c.1185A>C c.3645A>C (p.Arg1215Ser) c.3825A>C (p.Arg1275Ser) c.3492A>C (p.Arg1164Ser) |