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.117642810A= | CA1737404917 | CFTR | c.*82+217A= (n.*82+217A=) c.*3587+217A= (n.*3587+217A=) c.3690+217A= (n.3690+217A=) c.3874-58A= (n.3874-58A=) c.*526+217A= (n.*526+217A=) c.3873+217A= (n.3873+217A=) c.*534+217A= (n.*534+217A=) c.*2248+217A= (n.*2248+217A=) c.3867+217A= (n.3867+217A=) c.*3697+217A= (n.*3697+217A=) c.3447+217A= (n.3447+217A=) c.622-58A= (n.622-58A=) c.1660+217A= (n.1660+217A=) c.455+217A= c.1323+217A= c.3783+217A= (n.3783+217A=) c.3963+217A= (n.3963+217A=) c.3630+217A= (n.3630+217A=) | |
7 | g.117642810A>G | CA164947827 | CFTR | c.*82+217A>G (n.*82+217A>G) c.*3587+217A>G (n.*3587+217A>G) c.3690+217A>G (n.3690+217A>G) c.3874-58A>G (n.3874-58A>G) c.*526+217A>G (n.*526+217A>G) c.3873+217A>G (n.3873+217A>G) c.*534+217A>G (n.*534+217A>G) c.*2248+217A>G (n.*2248+217A>G) c.3867+217A>G (n.3867+217A>G) c.*3697+217A>G (n.*3697+217A>G) c.3447+217A>G (n.3447+217A>G) c.622-58A>G (n.622-58A>G) c.1660+217A>G (n.1660+217A>G) c.455+217A>G c.1323+217A>G c.3783+217A>G (n.3783+217A>G) c.3963+217A>G (n.3963+217A>G) c.3630+217A>G (n.3630+217A>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117642811G>A | CA1737404918 | CFTR | c.*82+218G>A (n.*82+218G>A) c.*3587+218G>A (n.*3587+218G>A) c.3690+218G>A (n.3690+218G>A) c.3874-57G>A (n.3874-57G>A) c.*526+218G>A (n.*526+218G>A) c.3873+218G>A (n.3873+218G>A) c.*534+218G>A (n.*534+218G>A) c.*2248+218G>A (n.*2248+218G>A) c.3867+218G>A (n.3867+218G>A) c.*3697+218G>A (n.*3697+218G>A) c.3447+218G>A (n.3447+218G>A) c.622-57G>A (n.622-57G>A) c.1660+218G>A (n.1660+218G>A) c.455+218G>A c.1323+218G>A c.3783+218G>A (n.3783+218G>A) c.3963+218G>A (n.3963+218G>A) c.3630+218G>A (n.3630+218G>A) | dbSNP |
7 | g.117642811G>C | CA1106311388 | CFTR | c.*82+218G>C (n.*82+218G>C) c.*3587+218G>C (n.*3587+218G>C) c.3690+218G>C (n.3690+218G>C) c.3874-57G>C (n.3874-57G>C) c.*526+218G>C (n.*526+218G>C) c.3873+218G>C (n.3873+218G>C) c.*534+218G>C (n.*534+218G>C) c.*2248+218G>C (n.*2248+218G>C) c.3867+218G>C (n.3867+218G>C) c.*3697+218G>C (n.*3697+218G>C) c.3447+218G>C (n.3447+218G>C) c.622-57G>C (n.622-57G>C) c.1660+218G>C (n.1660+218G>C) c.455+218G>C c.1323+218G>C c.3783+218G>C (n.3783+218G>C) c.3963+218G>C (n.3963+218G>C) c.3630+218G>C (n.3630+218G>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117642811G= | CA1737404920 | CFTR | c.*82+218G= (n.*82+218G=) c.*3587+218G= (n.*3587+218G=) c.3690+218G= (n.3690+218G=) c.3874-57G= (n.3874-57G=) c.*526+218G= (n.*526+218G=) c.3873+218G= (n.3873+218G=) c.*534+218G= (n.*534+218G=) c.*2248+218G= (n.*2248+218G=) c.3867+218G= (n.3867+218G=) c.*3697+218G= (n.*3697+218G=) c.3447+218G= (n.3447+218G=) c.622-57G= (n.622-57G=) c.1660+218G= (n.1660+218G=) c.455+218G= c.1323+218G= c.3783+218G= (n.3783+218G=) c.3963+218G= (n.3963+218G=) c.3630+218G= (n.3630+218G=) | |
7 | g.117642811G>T | CA1737404919 | CFTR | c.*82+218G>T (n.*82+218G>T) c.*3587+218G>T (n.*3587+218G>T) c.3690+218G>T (n.3690+218G>T) c.3874-57G>T (n.3874-57G>T) c.*526+218G>T (n.*526+218G>T) c.3873+218G>T (n.3873+218G>T) c.*534+218G>T (n.*534+218G>T) c.*2248+218G>T (n.*2248+218G>T) c.3867+218G>T (n.3867+218G>T) c.*3697+218G>T (n.*3697+218G>T) c.3447+218G>T (n.3447+218G>T) c.622-57G>T (n.622-57G>T) c.1660+218G>T (n.1660+218G>T) c.455+218G>T c.1323+218G>T c.3783+218G>T (n.3783+218G>T) c.3963+218G>T (n.3963+218G>T) c.3630+218G>T (n.3630+218G>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117642819C= | CA1737404921 | CFTR | c.*82+226C= (n.*82+226C=) c.*3587+226C= (n.*3587+226C=) c.3690+226C= (n.3690+226C=) c.3874-49C= (n.3874-49C=) c.*526+226C= (n.*526+226C=) c.3873+226C= (n.3873+226C=) c.*534+226C= (n.*534+226C=) c.*2248+226C= (n.*2248+226C=) c.3867+226C= (n.3867+226C=) c.*3697+226C= (n.*3697+226C=) c.3447+226C= (n.3447+226C=) c.622-49C= (n.622-49C=) c.1660+226C= (n.1660+226C=) c.455+226C= c.1323+226C= c.3783+226C= (n.3783+226C=) c.3963+226C= (n.3963+226C=) c.3630+226C= (n.3630+226C=) | |
7 | g.117642819C>G | CA164947830 | CFTR | c.*82+226C>G (n.*82+226C>G) c.*3587+226C>G (n.*3587+226C>G) c.3690+226C>G (n.3690+226C>G) c.3874-49C>G (n.3874-49C>G) c.*526+226C>G (n.*526+226C>G) c.3873+226C>G (n.3873+226C>G) c.*534+226C>G (n.*534+226C>G) c.*2248+226C>G (n.*2248+226C>G) c.3867+226C>G (n.3867+226C>G) c.*3697+226C>G (n.*3697+226C>G) c.3447+226C>G (n.3447+226C>G) c.622-49C>G (n.622-49C>G) c.1660+226C>G (n.1660+226C>G) c.455+226C>G c.1323+226C>G c.3783+226C>G (n.3783+226C>G) c.3963+226C>G (n.3963+226C>G) c.3630+226C>G (n.3630+226C>G) | dbSNP |
7 | g.117642827_117642828delinsCA | CA1737404922 | CFTR | c.*82+234_*82+235delinsCA (n.*82+234_*82+235delinsCA) c.*3587+234_*3587+235delinsCA (n.*3587+234_*3587+235delinsCA) c.3690+234_3690+235delinsCA (n.3690+234_3690+235delinsCA) c.3874-41_3874-40delinsCA (n.3874-41_3874-40delinsCA) c.*526+234_*526+235delinsCA (n.*526+234_*526+235delinsCA) c.3873+234_3873+235delinsCA (n.3873+234_3873+235delinsCA) c.*534+234_*534+235delinsCA (n.*534+234_*534+235delinsCA) c.*2248+234_*2248+235delinsCA (n.*2248+234_*2248+235delinsCA) c.3867+234_3867+235delinsCA (n.3867+234_3867+235delinsCA) c.*3697+234_*3697+235delinsCA (n.*3697+234_*3697+235delinsCA) c.3447+234_3447+235delinsCA (n.3447+234_3447+235delinsCA) c.622-41_622-40delinsCA (n.622-41_622-40delinsCA) c.1660+234_1660+235delinsCA (n.1660+234_1660+235delinsCA) c.455+234_455+235delinsCA c.1323+234_1323+235delinsCA c.3783+234_3783+235delinsCA (n.3783+234_3783+235delinsCA) c.3963+234_3963+235delinsCA (n.3963+234_3963+235delinsCA) c.3630+234_3630+235delinsCA (n.3630+234_3630+235delinsCA) | |
7 | g.117642830del | CA832114277 | CFTR | c.*82+237del (n.*82+237del) c.*3587+237del (n.*3587+237del) c.3690+237del (n.3690+237del) c.3874-38del (n.3874-38del) c.*526+237del (n.*526+237del) c.3873+237del (n.3873+237del) c.*534+237del (n.*534+237del) c.*2248+237del (n.*2248+237del) c.3867+237del (n.3867+237del) c.*3697+237del (n.*3697+237del) c.3447+237del (n.3447+237del) c.622-38del (n.622-38del) c.1660+237del (n.1660+237del) c.455+237del c.1323+237del c.3783+237del (n.3783+237del) c.3963+237del (n.3963+237del) c.3630+237del (n.3630+237del) | dbSNP |
7 | g.117642828_117642829insGAATTTGAG | CA2540578824 | CFTR | c.*82+235_*82+236insGAATTTGAG (n.*82+235_*82+236insGAATTTGAG) c.*3587+235_*3587+236insGAATTTGAG (n.*3587+235_*3587+236insGAATTTGAG) c.3690+235_3690+236insGAATTTGAG (n.3690+235_3690+236insGAATTTGAG) c.3874-40_3874-39insGAATTTGAG (n.3874-40_3874-39insGAATTTGAG) c.*526+235_*526+236insGAATTTGAG (n.*526+235_*526+236insGAATTTGAG) c.3873+235_3873+236insGAATTTGAG (n.3873+235_3873+236insGAATTTGAG) c.*534+235_*534+236insGAATTTGAG (n.*534+235_*534+236insGAATTTGAG) c.*2248+235_*2248+236insGAATTTGAG (n.*2248+235_*2248+236insGAATTTGAG) c.3867+235_3867+236insGAATTTGAG (n.3867+235_3867+236insGAATTTGAG) c.*3697+235_*3697+236insGAATTTGAG (n.*3697+235_*3697+236insGAATTTGAG) c.3447+235_3447+236insGAATTTGAG (n.3447+235_3447+236insGAATTTGAG) c.622-40_622-39insGAATTTGAG (n.622-40_622-39insGAATTTGAG) c.1660+235_1660+236insGAATTTGAG (n.1660+235_1660+236insGAATTTGAG) c.455+235_455+236insGAATTTGAG c.1323+235_1323+236insGAATTTGAG c.3783+235_3783+236insGAATTTGAG (n.3783+235_3783+236insGAATTTGAG) c.3963+235_3963+236insGAATTTGAG (n.3963+235_3963+236insGAATTTGAG) c.3630+235_3630+236insGAATTTGAG (n.3630+235_3630+236insGAATTTGAG) | |
7 | g.117642829A= | CA1737404923 | CFTR | c.*82+236A= (n.*82+236A=) c.*3587+236A= (n.*3587+236A=) c.3690+236A= (n.3690+236A=) c.3874-39A= (n.3874-39A=) c.*526+236A= (n.*526+236A=) c.3873+236A= (n.3873+236A=) c.*534+236A= (n.*534+236A=) c.*2248+236A= (n.*2248+236A=) c.3867+236A= (n.3867+236A=) c.*3697+236A= (n.*3697+236A=) c.3447+236A= (n.3447+236A=) c.622-39A= (n.622-39A=) c.1660+236A= (n.1660+236A=) c.455+236A= c.1323+236A= c.3783+236A= (n.3783+236A=) c.3963+236A= (n.3963+236A=) c.3630+236A= (n.3630+236A=) | |
7 | g.117642829A>G | CA1106311393 | CFTR | c.*82+236A>G (n.*82+236A>G) c.*3587+236A>G (n.*3587+236A>G) c.3690+236A>G (n.3690+236A>G) c.3874-39A>G (n.3874-39A>G) c.*526+236A>G (n.*526+236A>G) c.3873+236A>G (n.3873+236A>G) c.*534+236A>G (n.*534+236A>G) c.*2248+236A>G (n.*2248+236A>G) c.3867+236A>G (n.3867+236A>G) c.*3697+236A>G (n.*3697+236A>G) c.3447+236A>G (n.3447+236A>G) c.622-39A>G (n.622-39A>G) c.1660+236A>G (n.1660+236A>G) c.455+236A>G c.1323+236A>G c.3783+236A>G (n.3783+236A>G) c.3963+236A>G (n.3963+236A>G) c.3630+236A>G (n.3630+236A>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117642842A= | CA1737404924 | CFTR | c.*82+249A= (n.*82+249A=) c.*3587+249A= (n.*3587+249A=) c.3690+249A= (n.3690+249A=) c.3874-26A= (n.3874-26A=) c.*526+249A= (n.*526+249A=) c.3873+249A= (n.3873+249A=) c.*534+249A= (n.*534+249A=) c.*2248+249A= (n.*2248+249A=) c.3867+249A= (n.3867+249A=) c.*3697+249A= (n.*3697+249A=) c.3447+249A= (n.3447+249A=) c.622-26A= (n.622-26A=) c.1660+249A= (n.1660+249A=) c.455+249A= c.1323+249A= c.3783+249A= (n.3783+249A=) c.3963+249A= (n.3963+249A=) c.3630+249A= (n.3630+249A=) | |
7 | g.117642842A>G | CA577224089 | CFTR | c.*82+249A>G (n.*82+249A>G) c.*3587+249A>G (n.*3587+249A>G) c.3690+249A>G (n.3690+249A>G) c.3874-26A>G (n.3874-26A>G) c.*526+249A>G (n.*526+249A>G) c.3873+249A>G (n.3873+249A>G) c.*534+249A>G (n.*534+249A>G) c.*2248+249A>G (n.*2248+249A>G) c.3867+249A>G (n.3867+249A>G) c.*3697+249A>G (n.*3697+249A>G) c.3447+249A>G (n.3447+249A>G) c.622-26A>G (n.622-26A>G) c.1660+249A>G (n.1660+249A>G) c.455+249A>G c.1323+249A>G c.3783+249A>G (n.3783+249A>G) c.3963+249A>G (n.3963+249A>G) c.3630+249A>G (n.3630+249A>G) | dbSNP gnomAD v2 |
7 | g.117642842A>T | CA164947833 | CFTR | c.*82+249A>T (n.*82+249A>T) c.*3587+249A>T (n.*3587+249A>T) c.3690+249A>T (n.3690+249A>T) c.3874-26A>T (n.3874-26A>T) c.*526+249A>T (n.*526+249A>T) c.3873+249A>T (n.3873+249A>T) c.*534+249A>T (n.*534+249A>T) c.*2248+249A>T (n.*2248+249A>T) c.3867+249A>T (n.3867+249A>T) c.*3697+249A>T (n.*3697+249A>T) c.3447+249A>T (n.3447+249A>T) c.622-26A>T (n.622-26A>T) c.1660+249A>T (n.1660+249A>T) c.455+249A>T c.1323+249A>T c.3783+249A>T (n.3783+249A>T) c.3963+249A>T (n.3963+249A>T) c.3630+249A>T (n.3630+249A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642843G= | CA1737404925 | CFTR | c.*82+250G= (n.*82+250G=) c.*3587+250G= (n.*3587+250G=) c.3690+250G= (n.3690+250G=) c.3874-25G= (n.3874-25G=) c.*526+250G= (n.*526+250G=) c.3873+250G= (n.3873+250G=) c.*534+250G= (n.*534+250G=) c.*2248+250G= (n.*2248+250G=) c.3867+250G= (n.3867+250G=) c.*3697+250G= (n.*3697+250G=) c.3447+250G= (n.3447+250G=) c.622-25G= (n.622-25G=) c.1660+250G= (n.1660+250G=) c.455+250G= c.1323+250G= c.3783+250G= (n.3783+250G=) c.3963+250G= (n.3963+250G=) c.3630+250G= (n.3630+250G=) | |
7 | g.117642843G>T | CA164947836 | CFTR | c.*82+250G>T (n.*82+250G>T) c.*3587+250G>T (n.*3587+250G>T) c.3690+250G>T (n.3690+250G>T) c.3874-25G>T (n.3874-25G>T) c.*526+250G>T (n.*526+250G>T) c.3873+250G>T (n.3873+250G>T) c.*534+250G>T (n.*534+250G>T) c.*2248+250G>T (n.*2248+250G>T) c.3867+250G>T (n.3867+250G>T) c.*3697+250G>T (n.*3697+250G>T) c.3447+250G>T (n.3447+250G>T) c.622-25G>T (n.622-25G>T) c.1660+250G>T (n.1660+250G>T) c.455+250G>T c.1323+250G>T c.3783+250G>T (n.3783+250G>T) c.3963+250G>T (n.3963+250G>T) c.3630+250G>T (n.3630+250G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642844C= | CA1737404926 | CFTR | c.*82+251C= (n.*82+251C=) c.*3587+251C= (n.*3587+251C=) c.3690+251C= (n.3690+251C=) c.3874-24C= (n.3874-24C=) c.*526+251C= (n.*526+251C=) c.3873+251C= (n.3873+251C=) c.*534+251C= (n.*534+251C=) c.*2248+251C= (n.*2248+251C=) c.3867+251C= (n.3867+251C=) c.*3697+251C= (n.*3697+251C=) c.3447+251C= (n.3447+251C=) c.622-24C= (n.622-24C=) c.1660+251C= (n.1660+251C=) c.455+251C= c.1323+251C= c.3783+251C= (n.3783+251C=) c.3963+251C= (n.3963+251C=) c.3630+251C= (n.3630+251C=) | |
7 | g.117642844C>T | CA577224090 | CFTR | c.*82+251C>T (n.*82+251C>T) c.*3587+251C>T (n.*3587+251C>T) c.3690+251C>T (n.3690+251C>T) c.3874-24C>T (n.3874-24C>T) c.*526+251C>T (n.*526+251C>T) c.3873+251C>T (n.3873+251C>T) c.*534+251C>T (n.*534+251C>T) c.*2248+251C>T (n.*2248+251C>T) c.3867+251C>T (n.3867+251C>T) c.*3697+251C>T (n.*3697+251C>T) c.3447+251C>T (n.3447+251C>T) c.622-24C>T (n.622-24C>T) c.1660+251C>T (n.1660+251C>T) c.455+251C>T c.1323+251C>T c.3783+251C>T (n.3783+251C>T) c.3963+251C>T (n.3963+251C>T) c.3630+251C>T (n.3630+251C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642845C= | CA1737404927 | CFTR | c.*82+252C= (n.*82+252C=) c.*3587+252C= (n.*3587+252C=) c.3690+252C= (n.3690+252C=) c.3874-23C= (n.3874-23C=) c.*526+252C= (n.*526+252C=) c.3873+252C= (n.3873+252C=) c.*534+252C= (n.*534+252C=) c.*2248+252C= (n.*2248+252C=) c.3867+252C= (n.3867+252C=) c.*3697+252C= (n.*3697+252C=) c.3447+252C= (n.3447+252C=) c.622-23C= (n.622-23C=) c.1660+252C= (n.1660+252C=) c.455+252C= c.1323+252C= c.3783+252C= (n.3783+252C=) c.3963+252C= (n.3963+252C=) c.3630+252C= (n.3630+252C=) | |
7 | g.117642845C>G | CA1106311399 | CFTR | c.*82+252C>G (n.*82+252C>G) c.*3587+252C>G (n.*3587+252C>G) c.3690+252C>G (n.3690+252C>G) c.3874-23C>G (n.3874-23C>G) c.*526+252C>G (n.*526+252C>G) c.3873+252C>G (n.3873+252C>G) c.*534+252C>G (n.*534+252C>G) c.*2248+252C>G (n.*2248+252C>G) c.3867+252C>G (n.3867+252C>G) c.*3697+252C>G (n.*3697+252C>G) c.3447+252C>G (n.3447+252C>G) c.622-23C>G (n.622-23C>G) c.1660+252C>G (n.1660+252C>G) c.455+252C>G c.1323+252C>G c.3783+252C>G (n.3783+252C>G) c.3963+252C>G (n.3963+252C>G) c.3630+252C>G (n.3630+252C>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117642851C= | CA1737404928 | CFTR | c.*82+258C= (n.*82+258C=) c.*3587+258C= (n.*3587+258C=) c.3690+258C= (n.3690+258C=) c.3874-17C= (n.3874-17C=) c.*526+258C= (n.*526+258C=) c.3873+258C= (n.3873+258C=) c.*534+258C= (n.*534+258C=) c.*2248+258C= (n.*2248+258C=) c.3867+258C= (n.3867+258C=) c.*3697+258C= (n.*3697+258C=) c.3447+258C= (n.3447+258C=) c.622-17C= (n.622-17C=) c.1660+258C= (n.1660+258C=) c.455+258C= c.1323+258C= c.3783+258C= (n.3783+258C=) c.3963+258C= (n.3963+258C=) c.3630+258C= (n.3630+258C=) | |
7 | g.117642851C>T | CA577224091 | CFTR | c.*82+258C>T (n.*82+258C>T) c.*3587+258C>T (n.*3587+258C>T) c.3690+258C>T (n.3690+258C>T) c.3874-17C>T (n.3874-17C>T) c.*526+258C>T (n.*526+258C>T) c.3873+258C>T (n.3873+258C>T) c.*534+258C>T (n.*534+258C>T) c.*2248+258C>T (n.*2248+258C>T) c.3867+258C>T (n.3867+258C>T) c.*3697+258C>T (n.*3697+258C>T) c.3447+258C>T (n.3447+258C>T) c.622-17C>T (n.622-17C>T) c.1660+258C>T (n.1660+258C>T) c.455+258C>T c.1323+258C>T c.3783+258C>T (n.3783+258C>T) c.3963+258C>T (n.3963+258C>T) c.3630+258C>T (n.3630+258C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642851_117642853delinsCTT | CA1737404929 | CFTR | c.*82+258_*82+260delinsCTT (n.*82+258_*82+260delinsCTT) c.*3587+258_*3587+260delinsCTT (n.*3587+258_*3587+260delinsCTT) c.3690+258_3690+260delinsCTT (n.3690+258_3690+260delinsCTT) c.3874-17_3874-15delinsCTT (n.3874-17_3874-15delinsCTT) c.*526+258_*526+260delinsCTT (n.*526+258_*526+260delinsCTT) c.3873+258_3873+260delinsCTT (n.3873+258_3873+260delinsCTT) c.*534+258_*534+260delinsCTT (n.*534+258_*534+260delinsCTT) c.*2248+258_*2248+260delinsCTT (n.*2248+258_*2248+260delinsCTT) c.3867+258_3867+260delinsCTT (n.3867+258_3867+260delinsCTT) c.*3697+258_*3697+260delinsCTT (n.*3697+258_*3697+260delinsCTT) c.3447+258_3447+260delinsCTT (n.3447+258_3447+260delinsCTT) c.622-17_622-15delinsCTT (n.622-17_622-15delinsCTT) c.1660+258_1660+260delinsCTT (n.1660+258_1660+260delinsCTT) c.455+258_455+260delinsCTT c.1323+258_1323+260delinsCTT c.3783+258_3783+260delinsCTT (n.3783+258_3783+260delinsCTT) c.3963+258_3963+260delinsCTT (n.3963+258_3963+260delinsCTT) c.3630+258_3630+260delinsCTT (n.3630+258_3630+260delinsCTT) | |
7 | g.117642854_117642855del | CA1106311404 | CFTR | c.*82+261_*82+262del (n.*82+261_*82+262del) c.*3587+261_*3587+262del (n.*3587+261_*3587+262del) c.3690+261_3690+262del (n.3690+261_3690+262del) c.3874-14_3874-13del (n.3874-14_3874-13del) c.*526+261_*526+262del (n.*526+261_*526+262del) c.3873+261_3873+262del (n.3873+261_3873+262del) c.*534+261_*534+262del (n.*534+261_*534+262del) c.*2248+261_*2248+262del (n.*2248+261_*2248+262del) c.3867+261_3867+262del (n.3867+261_3867+262del) c.*3697+261_*3697+262del (n.*3697+261_*3697+262del) c.3447+261_3447+262del (n.3447+261_3447+262del) c.622-14_622-13del (n.622-14_622-13del) c.1660+261_1660+262del (n.1660+261_1660+262del) c.455+261_455+262del c.1323+261_1323+262del c.3783+261_3783+262del (n.3783+261_3783+262del) c.3963+261_3963+262del (n.3963+261_3963+262del) c.3630+261_3630+262del (n.3630+261_3630+262del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117642854T>C | CA2603608496 | CFTR | c.*82+261T>C (n.*82+261T>C) c.*3587+261T>C (n.*3587+261T>C) c.3690+261T>C (n.3690+261T>C) c.3874-14T>C (n.3874-14T>C) c.*526+261T>C (n.*526+261T>C) c.3873+261T>C (n.3873+261T>C) c.*534+261T>C (n.*534+261T>C) c.*2248+261T>C (n.*2248+261T>C) c.3867+261T>C (n.3867+261T>C) c.*3697+261T>C (n.*3697+261T>C) c.3447+261T>C (n.3447+261T>C) c.622-14T>C (n.622-14T>C) c.1660+261T>C (n.1660+261T>C) c.455+261T>C c.1323+261T>C c.3783+261T>C (n.3783+261T>C) c.3963+261T>C (n.3963+261T>C) c.3630+261T>C (n.3630+261T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117642856G>A | CA832114281 | CFTR | c.*82+263G>A (n.*82+263G>A) c.*3587+263G>A (n.*3587+263G>A) c.3690+263G>A (n.3690+263G>A) c.3874-12G>A (n.3874-12G>A) c.*526+263G>A (n.*526+263G>A) c.3873+263G>A (n.3873+263G>A) c.*534+263G>A (n.*534+263G>A) c.*2248+263G>A (n.*2248+263G>A) c.3867+263G>A (n.3867+263G>A) c.*3697+263G>A (n.*3697+263G>A) c.3447+263G>A (n.3447+263G>A) c.622-12G>A (n.622-12G>A) c.1660+263G>A (n.1660+263G>A) c.455+263G>A c.1323+263G>A c.3783+263G>A (n.3783+263G>A) c.3963+263G>A (n.3963+263G>A) c.3630+263G>A (n.3630+263G>A) | dbSNP |
7 | g.117642856G>C | CA577224092 | CFTR | c.*82+263G>C (n.*82+263G>C) c.*3587+263G>C (n.*3587+263G>C) c.3690+263G>C (n.3690+263G>C) c.3874-12G>C (n.3874-12G>C) c.*526+263G>C (n.*526+263G>C) c.3873+263G>C (n.3873+263G>C) c.*534+263G>C (n.*534+263G>C) c.*2248+263G>C (n.*2248+263G>C) c.3867+263G>C (n.3867+263G>C) c.*3697+263G>C (n.*3697+263G>C) c.3447+263G>C (n.3447+263G>C) c.622-12G>C (n.622-12G>C) c.1660+263G>C (n.1660+263G>C) c.455+263G>C c.1323+263G>C c.3783+263G>C (n.3783+263G>C) c.3963+263G>C (n.3963+263G>C) c.3630+263G>C (n.3630+263G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642856G= | CA1737404930 | CFTR | c.*82+263G= (n.*82+263G=) c.*3587+263G= (n.*3587+263G=) c.3690+263G= (n.3690+263G=) c.3874-12G= (n.3874-12G=) c.*526+263G= (n.*526+263G=) c.3873+263G= (n.3873+263G=) c.*534+263G= (n.*534+263G=) c.*2248+263G= (n.*2248+263G=) c.3867+263G= (n.3867+263G=) c.*3697+263G= (n.*3697+263G=) c.3447+263G= (n.3447+263G=) c.622-12G= (n.622-12G=) c.1660+263G= (n.1660+263G=) c.455+263G= c.1323+263G= c.3783+263G= (n.3783+263G=) c.3963+263G= (n.3963+263G=) c.3630+263G= (n.3630+263G=) | |
7 | g.117642859T>C | CA164947841 | CFTR | c.*82+266T>C (n.*82+266T>C) c.*3587+266T>C (n.*3587+266T>C) c.3690+266T>C (n.3690+266T>C) c.3874-9T>C (n.3874-9T>C) c.*526+266T>C (n.*526+266T>C) c.3873+266T>C (n.3873+266T>C) c.*534+266T>C (n.*534+266T>C) c.*2248+266T>C (n.*2248+266T>C) c.3867+266T>C (n.3867+266T>C) c.*3697+266T>C (n.*3697+266T>C) c.3447+266T>C (n.3447+266T>C) c.622-9T>C (n.622-9T>C) c.1660+266T>C (n.1660+266T>C) c.455+266T>C c.1323+266T>C c.3783+266T>C (n.3783+266T>C) c.3963+266T>C (n.3963+266T>C) c.3630+266T>C (n.3630+266T>C) | dbSNP |
7 | g.117642859T= | CA1737404931 | CFTR | c.*82+266T= (n.*82+266T=) c.*3587+266T= (n.*3587+266T=) c.3690+266T= (n.3690+266T=) c.3874-9T= (n.3874-9T=) c.*526+266T= (n.*526+266T=) c.3873+266T= (n.3873+266T=) c.*534+266T= (n.*534+266T=) c.*2248+266T= (n.*2248+266T=) c.3867+266T= (n.3867+266T=) c.*3697+266T= (n.*3697+266T=) c.3447+266T= (n.3447+266T=) c.622-9T= (n.622-9T=) c.1660+266T= (n.1660+266T=) c.455+266T= c.1323+266T= c.3783+266T= (n.3783+266T=) c.3963+266T= (n.3963+266T=) c.3630+266T= (n.3630+266T=) | |
7 | g.117642866A= | CA1737404932 | CFTR | c.*82+273A= (n.*82+273A=) c.*3587+273A= (n.*3587+273A=) c.3690+273A= (n.3690+273A=) c.3874-2A= (n.3874-2A=) c.*526+273A= (n.*526+273A=) c.3873+273A= (n.3873+273A=) c.*534+273A= (n.*534+273A=) c.*2248+273A= (n.*2248+273A=) c.3867+273A= (n.3867+273A=) c.*3697+273A= (n.*3697+273A=) c.3447+273A= (n.3447+273A=) c.622-2A= (n.622-2A=) c.1660+273A= (n.1660+273A=) c.455+273A= c.1323+273A= c.3783+273A= (n.3783+273A=) c.3963+273A= (n.3963+273A=) c.3630+273A= (n.3630+273A=) | |
7 | g.117642866A>G | CA1737404933 | CFTR | c.*82+273A>G (n.*82+273A>G) c.*3587+273A>G (n.*3587+273A>G) c.3690+273A>G (n.3690+273A>G) c.3874-2A>G (n.3874-2A>G) c.*526+273A>G (n.*526+273A>G) c.3873+273A>G (n.3873+273A>G) c.*534+273A>G (n.*534+273A>G) c.*2248+273A>G (n.*2248+273A>G) c.3867+273A>G (n.3867+273A>G) c.*3697+273A>G (n.*3697+273A>G) c.3447+273A>G (n.3447+273A>G) c.622-2A>G (n.622-2A>G) c.1660+273A>G (n.1660+273A>G) c.455+273A>G c.1323+273A>G c.3783+273A>G (n.3783+273A>G) c.3963+273A>G (n.3963+273A>G) c.3630+273A>G (n.3630+273A>G) | dbSNP |
7 | g.117642868C= | CA1737404934 | CFTR | c.*82+275C= (n.*82+275C=) c.*3587+275C= (n.*3587+275C=) c.3690+275C= (n.3690+275C=) c.3874C= (p.Leu1292=) c.*526+275C= (n.*526+275C=) c.3873+275C= (n.3873+275C=) c.*534+275C= (n.*534+275C=) c.*2248+275C= (n.*2248+275C=) c.3867+275C= (n.3867+275C=) c.*3697+275C= (n.*3697+275C=) c.3447+275C= (n.3447+275C=) c.622C= (p.Leu208=) c.1660+275C= (n.1660+275C=) c.455+275C= c.1323+275C= c.3783+275C= (n.3783+275C=) c.3963+275C= (n.3963+275C=) c.3630+275C= (n.3630+275C=) | |
7 | g.117642868C>T | CA164947844 | CFTR | c.*82+275C>T (n.*82+275C>T) c.*3587+275C>T (n.*3587+275C>T) c.3690+275C>T (n.3690+275C>T) c.3874C>T (p.Leu1292Phe) c.*526+275C>T (n.*526+275C>T) c.3873+275C>T (n.3873+275C>T) c.*534+275C>T (n.*534+275C>T) c.*2248+275C>T (n.*2248+275C>T) c.3867+275C>T (n.3867+275C>T) c.*3697+275C>T (n.*3697+275C>T) c.3447+275C>T (n.3447+275C>T) c.622C>T (p.Leu208Phe) c.1660+275C>T (n.1660+275C>T) c.455+275C>T c.1323+275C>T c.3783+275C>T (n.3783+275C>T) c.3963+275C>T (n.3963+275C>T) c.3630+275C>T (n.3630+275C>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117642870C= | CA1737404935 | CFTR | c.*82+277C= (n.*82+277C=) c.*3587+277C= (n.*3587+277C=) c.3690+277C= (n.3690+277C=) c.3876C= (p.Leu1292=) c.*526+277C= (n.*526+277C=) c.3873+277C= (n.3873+277C=) c.*534+277C= (n.*534+277C=) c.*2248+277C= (n.*2248+277C=) c.3867+277C= (n.3867+277C=) c.*3697+277C= (n.*3697+277C=) c.3447+277C= (n.3447+277C=) c.624C= (p.Leu208=) c.1660+277C= (n.1660+277C=) c.455+277C= c.1323+277C= c.3783+277C= (n.3783+277C=) c.3963+277C= (n.3963+277C=) c.3630+277C= (n.3630+277C=) | |
7 | g.117642870C>T | CA164947850 | CFTR | c.*82+277C>T (n.*82+277C>T) c.*3587+277C>T (n.*3587+277C>T) c.3690+277C>T (n.3690+277C>T) c.3876C>T (p.Leu1292=) c.*526+277C>T (n.*526+277C>T) c.3873+277C>T (n.3873+277C>T) c.*534+277C>T (n.*534+277C>T) c.*2248+277C>T (n.*2248+277C>T) c.3867+277C>T (n.3867+277C>T) c.*3697+277C>T (n.*3697+277C>T) c.3447+277C>T (n.3447+277C>T) c.624C>T (p.Leu208=) c.1660+277C>T (n.1660+277C>T) c.455+277C>T c.1323+277C>T c.3783+277C>T (n.3783+277C>T) c.3963+277C>T (n.3963+277C>T) c.3630+277C>T (n.3630+277C>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117642875T>C | CA1737404937 | CFTR | c.*82+282T>C (n.*82+282T>C) c.*3587+282T>C (n.*3587+282T>C) c.3690+282T>C (n.3690+282T>C) c.3881T>C (p.Phe1294Ser) c.*526+282T>C (n.*526+282T>C) c.3873+282T>C (n.3873+282T>C) c.*534+282T>C (n.*534+282T>C) c.*2248+282T>C (n.*2248+282T>C) c.3867+282T>C (n.3867+282T>C) c.*3697+282T>C (n.*3697+282T>C) c.3447+282T>C (n.3447+282T>C) c.629T>C (p.Phe210Ser) c.1660+282T>C (n.1660+282T>C) c.455+282T>C c.1323+282T>C c.3783+282T>C (n.3783+282T>C) c.3963+282T>C (n.3963+282T>C) c.3630+282T>C (n.3630+282T>C) | dbSNP |
7 | g.117642875T= | CA1737404936 | CFTR | c.*82+282T= (n.*82+282T=) c.*3587+282T= (n.*3587+282T=) c.3690+282T= (n.3690+282T=) c.3881T= (p.Phe1294=) c.*526+282T= (n.*526+282T=) c.3873+282T= (n.3873+282T=) c.*534+282T= (n.*534+282T=) c.*2248+282T= (n.*2248+282T=) c.3867+282T= (n.3867+282T=) c.*3697+282T= (n.*3697+282T=) c.3447+282T= (n.3447+282T=) c.629T= (p.Phe210=) c.1660+282T= (n.1660+282T=) c.455+282T= c.1323+282T= c.3783+282T= (n.3783+282T=) c.3963+282T= (n.3963+282T=) c.3630+282T= (n.3630+282T=) | |
7 | g.117642876T>G | CA832114282 | CFTR | c.*82+283T>G (n.*82+283T>G) c.*3587+283T>G (n.*3587+283T>G) c.3690+283T>G (n.3690+283T>G) c.3882T>G (p.Phe1294Leu) c.*526+283T>G (n.*526+283T>G) c.3873+283T>G (n.3873+283T>G) c.*534+283T>G (n.*534+283T>G) c.*2248+283T>G (n.*2248+283T>G) c.3867+283T>G (n.3867+283T>G) c.*3697+283T>G (n.*3697+283T>G) c.3447+283T>G (n.3447+283T>G) c.630T>G (p.Phe210Leu) c.1660+283T>G (n.1660+283T>G) c.455+283T>G c.1323+283T>G c.3783+283T>G (n.3783+283T>G) c.3963+283T>G (n.3963+283T>G) c.3630+283T>G (n.3630+283T>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117642876T= | CA1737404938 | CFTR | c.*82+283T= (n.*82+283T=) c.*3587+283T= (n.*3587+283T=) c.3690+283T= (n.3690+283T=) c.3882T= (p.Phe1294=) c.*526+283T= (n.*526+283T=) c.3873+283T= (n.3873+283T=) c.*534+283T= (n.*534+283T=) c.*2248+283T= (n.*2248+283T=) c.3867+283T= (n.3867+283T=) c.*3697+283T= (n.*3697+283T=) c.3447+283T= (n.3447+283T=) c.630T= (p.Phe210=) c.1660+283T= (n.1660+283T=) c.455+283T= c.1323+283T= c.3783+283T= (n.3783+283T=) c.3963+283T= (n.3963+283T=) c.3630+283T= (n.3630+283T=) | |
7 | g.117642878T>C | CA832114284 | CFTR | c.*82+285T>C (n.*82+285T>C) c.*3587+285T>C (n.*3587+285T>C) c.3690+285T>C (n.3690+285T>C) c.3884T>C (p.Val1295Ala) c.*526+285T>C (n.*526+285T>C) c.3873+285T>C (n.3873+285T>C) c.*534+285T>C (n.*534+285T>C) c.*2248+285T>C (n.*2248+285T>C) c.3867+285T>C (n.3867+285T>C) c.*3697+285T>C (n.*3697+285T>C) c.3447+285T>C (n.3447+285T>C) c.632T>C (p.Val211Ala) c.1660+285T>C (n.1660+285T>C) c.455+285T>C c.1323+285T>C c.3783+285T>C (n.3783+285T>C) c.3963+285T>C (n.3963+285T>C) c.3630+285T>C (n.3630+285T>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117642878T= | CA1737404939 | CFTR | c.*82+285T= (n.*82+285T=) c.*3587+285T= (n.*3587+285T=) c.3690+285T= (n.3690+285T=) c.3884T= (p.Val1295=) c.*526+285T= (n.*526+285T=) c.3873+285T= (n.3873+285T=) c.*534+285T= (n.*534+285T=) c.*2248+285T= (n.*2248+285T=) c.3867+285T= (n.3867+285T=) c.*3697+285T= (n.*3697+285T=) c.3447+285T= (n.3447+285T=) c.632T= (p.Val211=) c.1660+285T= (n.1660+285T=) c.455+285T= c.1323+285T= c.3783+285T= (n.3783+285T=) c.3963+285T= (n.3963+285T=) c.3630+285T= (n.3630+285T=) | |
7 | g.117642880C= | CA1737404940 | CFTR | c.*82+287C= (n.*82+287C=) c.*3587+287C= (n.*3587+287C=) c.3690+287C= (n.3690+287C=) c.3886C= (p.Pro1296=) c.*526+287C= (n.*526+287C=) c.3873+287C= (n.3873+287C=) c.*534+287C= (n.*534+287C=) c.*2248+287C= (n.*2248+287C=) c.3867+287C= (n.3867+287C=) c.*3697+287C= (n.*3697+287C=) c.3447+287C= (n.3447+287C=) c.634C= (p.Pro212=) c.1660+287C= (n.1660+287C=) c.455+287C= c.1323+287C= c.3783+287C= (n.3783+287C=) c.3963+287C= (n.3963+287C=) c.3630+287C= (n.3630+287C=) | |
7 | g.117642880C>T | CA832114295 | CFTR | c.*82+287C>T (n.*82+287C>T) c.*3587+287C>T (n.*3587+287C>T) c.3690+287C>T (n.3690+287C>T) c.3886C>T (p.Pro1296Ser) c.*526+287C>T (n.*526+287C>T) c.3873+287C>T (n.3873+287C>T) c.*534+287C>T (n.*534+287C>T) c.*2248+287C>T (n.*2248+287C>T) c.3867+287C>T (n.3867+287C>T) c.*3697+287C>T (n.*3697+287C>T) c.3447+287C>T (n.3447+287C>T) c.634C>T (p.Pro212Ser) c.1660+287C>T (n.1660+287C>T) c.455+287C>T c.1323+287C>T c.3783+287C>T (n.3783+287C>T) c.3963+287C>T (n.3963+287C>T) c.3630+287C>T (n.3630+287C>T) | dbSNP |
7 | g.117642881C= | CA1737404941 | CFTR | c.*82+288C= (n.*82+288C=) c.*3587+288C= (n.*3587+288C=) c.3690+288C= (n.3690+288C=) c.3887C= (p.Pro1296=) c.*526+288C= (n.*526+288C=) c.3873+288C= (n.3873+288C=) c.*534+288C= (n.*534+288C=) c.*2248+288C= (n.*2248+288C=) c.3867+288C= (n.3867+288C=) c.*3697+288C= (n.*3697+288C=) c.3447+288C= (n.3447+288C=) c.635C= (p.Pro212=) c.1660+288C= (n.1660+288C=) c.455+288C= c.1323+288C= c.3783+288C= (n.3783+288C=) c.3963+288C= (n.3963+288C=) c.3630+288C= (n.3630+288C=) | |
7 | g.117642881C>T | CA1106311409 | CFTR | c.*82+288C>T (n.*82+288C>T) c.*3587+288C>T (n.*3587+288C>T) c.3690+288C>T (n.3690+288C>T) c.3887C>T (p.Pro1296Leu) c.*526+288C>T (n.*526+288C>T) c.3873+288C>T (n.3873+288C>T) c.*534+288C>T (n.*534+288C>T) c.*2248+288C>T (n.*2248+288C>T) c.3867+288C>T (n.3867+288C>T) c.*3697+288C>T (n.*3697+288C>T) c.3447+288C>T (n.3447+288C>T) c.635C>T (p.Pro212Leu) c.1660+288C>T (n.1660+288C>T) c.455+288C>T c.1323+288C>T c.3783+288C>T (n.3783+288C>T) c.3963+288C>T (n.3963+288C>T) c.3630+288C>T (n.3630+288C>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117642884C= | CA1737404942 | CFTR | c.*82+291C= (n.*82+291C=) c.*3587+291C= (n.*3587+291C=) c.3690+291C= (n.3690+291C=) c.3890C= (p.Ala1297=) c.*526+291C= (n.*526+291C=) c.3873+291C= (n.3873+291C=) c.*534+291C= (n.*534+291C=) c.*2248+291C= (n.*2248+291C=) c.3867+291C= (n.3867+291C=) c.*3697+291C= (n.*3697+291C=) c.3447+291C= (n.3447+291C=) c.638C= (p.Ala213=) c.1660+291C= (n.1660+291C=) c.455+291C= c.1323+291C= c.3783+291C= (n.3783+291C=) c.3963+291C= (n.3963+291C=) c.3630+291C= (n.3630+291C=) | |
7 | g.117642884C>T | CA1106311411 | CFTR | c.*82+291C>T (n.*82+291C>T) c.*3587+291C>T (n.*3587+291C>T) c.3690+291C>T (n.3690+291C>T) c.3890C>T (p.Ala1297Val) c.*526+291C>T (n.*526+291C>T) c.3873+291C>T (n.3873+291C>T) c.*534+291C>T (n.*534+291C>T) c.*2248+291C>T (n.*2248+291C>T) c.3867+291C>T (n.3867+291C>T) c.*3697+291C>T (n.*3697+291C>T) c.3447+291C>T (n.3447+291C>T) c.638C>T (p.Ala213Val) c.1660+291C>T (n.1660+291C>T) c.455+291C>T c.1323+291C>T c.3783+291C>T (n.3783+291C>T) c.3963+291C>T (n.3963+291C>T) c.3630+291C>T (n.3630+291C>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117642887C= | CA1737404943 | CFTR | c.*82+294C= (n.*82+294C=) c.*3587+294C= (n.*3587+294C=) c.3690+294C= (n.3690+294C=) c.3893C= (p.Ser1298=) c.*526+294C= (n.*526+294C=) c.3873+294C= (n.3873+294C=) c.*534+294C= (n.*534+294C=) c.*2248+294C= (n.*2248+294C=) c.3867+294C= (n.3867+294C=) c.*3697+294C= (n.*3697+294C=) c.3447+294C= (n.3447+294C=) c.641C= (p.Ser214=) c.1660+294C= (n.1660+294C=) c.455+294C= c.1323+294C= c.3783+294C= (n.3783+294C=) c.3963+294C= (n.3963+294C=) c.3630+294C= (n.3630+294C=) | |
7 | g.117642887C>T | CA832114300 | CFTR | c.*82+294C>T (n.*82+294C>T) c.*3587+294C>T (n.*3587+294C>T) c.3690+294C>T (n.3690+294C>T) c.3893C>T (p.Ser1298Leu) c.*526+294C>T (n.*526+294C>T) c.3873+294C>T (n.3873+294C>T) c.*534+294C>T (n.*534+294C>T) c.*2248+294C>T (n.*2248+294C>T) c.3867+294C>T (n.3867+294C>T) c.*3697+294C>T (n.*3697+294C>T) c.3447+294C>T (n.3447+294C>T) c.641C>T (p.Ser214Leu) c.1660+294C>T (n.1660+294C>T) c.455+294C>T c.1323+294C>T c.3783+294C>T (n.3783+294C>T) c.3963+294C>T (n.3963+294C>T) c.3630+294C>T (n.3630+294C>T) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117642893C= | CA1737404944 | CFTR | c.*82+300C= (n.*82+300C=) c.*3587+300C= (n.*3587+300C=) c.3690+300C= (n.3690+300C=) c.3899C= (p.Ala1300=) c.*526+300C= (n.*526+300C=) c.3873+300C= (n.3873+300C=) c.*534+300C= (n.*534+300C=) c.*2248+300C= (n.*2248+300C=) c.3867+300C= (n.3867+300C=) c.*3697+300C= (n.*3697+300C=) c.3447+300C= (n.3447+300C=) c.647C= (p.Ala216=) c.1660+300C= (n.1660+300C=) c.455+300C= c.1323+300C= c.3783+300C= (n.3783+300C=) c.3963+300C= (n.3963+300C=) c.3630+300C= (n.3630+300C=) | |
7 | g.117642893C>T | CA832114305 | CFTR | c.*82+300C>T (n.*82+300C>T) c.*3587+300C>T (n.*3587+300C>T) c.3690+300C>T (n.3690+300C>T) c.3899C>T (p.Ala1300Val) c.*526+300C>T (n.*526+300C>T) c.3873+300C>T (n.3873+300C>T) c.*534+300C>T (n.*534+300C>T) c.*2248+300C>T (n.*2248+300C>T) c.3867+300C>T (n.3867+300C>T) c.*3697+300C>T (n.*3697+300C>T) c.3447+300C>T (n.3447+300C>T) c.647C>T (p.Ala216Val) c.1660+300C>T (n.1660+300C>T) c.455+300C>T c.1323+300C>T c.3783+300C>T (n.3783+300C>T) c.3963+300C>T (n.3963+300C>T) c.3630+300C>T (n.3630+300C>T) | dbSNP |
7 | g.117642898C= | CA1737404945 | CFTR | c.*82+305C= (n.*82+305C=) c.*3587+305C= (n.*3587+305C=) c.3690+305C= (n.3690+305C=) c.*1C= (n.*1C=) c.*526+305C= (n.*526+305C=) c.3873+305C= (n.3873+305C=) c.*534+305C= (n.*534+305C=) c.*2248+305C= (n.*2248+305C=) c.3867+305C= (n.3867+305C=) c.*3697+305C= (n.*3697+305C=) c.3447+305C= (n.3447+305C=) c.652C= (n.652C=) c.1660+305C= (n.1660+305C=) c.455+305C= c.1323+305C= c.3783+305C= (n.3783+305C=) c.3963+305C= (n.3963+305C=) c.3630+305C= (n.3630+305C=) | |
7 | g.117642898C>G | CA1106311415 | CFTR | c.*82+305C>G (n.*82+305C>G) c.*3587+305C>G (n.*3587+305C>G) c.3690+305C>G (n.3690+305C>G) c.*1C>G (n.*1C>G) c.*526+305C>G (n.*526+305C>G) c.3873+305C>G (n.3873+305C>G) c.*534+305C>G (n.*534+305C>G) c.*2248+305C>G (n.*2248+305C>G) c.3867+305C>G (n.3867+305C>G) c.*3697+305C>G (n.*3697+305C>G) c.3447+305C>G (n.3447+305C>G) c.652C>G (n.652C>G) c.1660+305C>G (n.1660+305C>G) c.455+305C>G c.1323+305C>G c.3783+305C>G (n.3783+305C>G) c.3963+305C>G (n.3963+305C>G) c.3630+305C>G (n.3630+305C>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117642902_117642906delinsCAAGT | CA1737404946 | CFTR | c.*82+309_*82+313delinsCAAGT (n.*82+309_*82+313delinsCAAGT) c.*3587+309_*3587+313delinsCAAGT (n.*3587+309_*3587+313delinsCAAGT) c.3690+309_3690+313delinsCAAGT (n.3690+309_3690+313delinsCAAGT) c.*5_*9delinsCAAGT (n.*5_*9delinsCAAGT) c.*526+309_*526+313delinsCAAGT (n.*526+309_*526+313delinsCAAGT) c.3873+309_3873+313delinsCAAGT (n.3873+309_3873+313delinsCAAGT) c.*534+309_*534+313delinsCAAGT (n.*534+309_*534+313delinsCAAGT) c.*2248+309_*2248+313delinsCAAGT (n.*2248+309_*2248+313delinsCAAGT) c.3867+309_3867+313delinsCAAGT (n.3867+309_3867+313delinsCAAGT) c.*3697+309_*3697+313delinsCAAGT (n.*3697+309_*3697+313delinsCAAGT) c.3447+309_3447+313delinsCAAGT (n.3447+309_3447+313delinsCAAGT) c.656_660delinsCAAGT (n.656_660delinsCAAGT) c.1660+309_1660+313delinsCAAGT (n.1660+309_1660+313delinsCAAGT) c.455+309_455+313delinsCAAGT c.1323+309_1323+313delinsCAAGT c.3783+309_3783+313delinsCAAGT (n.3783+309_3783+313delinsCAAGT) c.3963+309_3963+313delinsCAAGT (n.3963+309_3963+313delinsCAAGT) c.3630+309_3630+313delinsCAAGT (n.3630+309_3630+313delinsCAAGT) | |
7 | g.117642903_117642906del | CA832114311 | CFTR | c.*82+310_*82+313del (n.*82+310_*82+313del) c.*3587+310_*3587+313del (n.*3587+310_*3587+313del) c.3690+310_3690+313del (n.3690+310_3690+313del) c.*6_*9del (n.*6_*9del) c.*526+310_*526+313del (n.*526+310_*526+313del) c.3873+310_3873+313del (n.3873+310_3873+313del) c.*534+310_*534+313del (n.*534+310_*534+313del) c.*2248+310_*2248+313del (n.*2248+310_*2248+313del) c.3867+310_3867+313del (n.3867+310_3867+313del) c.*3697+310_*3697+313del (n.*3697+310_*3697+313del) c.3447+310_3447+313del (n.3447+310_3447+313del) c.657_660del (n.657_660del) c.1660+310_1660+313del (n.1660+310_1660+313del) c.455+310_455+313del c.1323+310_1323+313del c.3783+310_3783+313del (n.3783+310_3783+313del) c.3963+310_3963+313del (n.3963+310_3963+313del) c.3630+310_3630+313del (n.3630+310_3630+313del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117642904A= | CA1737404948 | CFTR | c.*82+311A= (n.*82+311A=) c.*3587+311A= (n.*3587+311A=) c.3690+311A= (n.3690+311A=) c.*7A= (n.*7A=) c.*526+311A= (n.*526+311A=) c.3873+311A= (n.3873+311A=) c.*534+311A= (n.*534+311A=) c.*2248+311A= (n.*2248+311A=) c.3867+311A= (n.3867+311A=) c.*3697+311A= (n.*3697+311A=) c.3447+311A= (n.3447+311A=) c.658A= (n.658A=) c.1660+311A= (n.1660+311A=) c.455+311A= c.1323+311A= c.3783+311A= (n.3783+311A=) c.3963+311A= (n.3963+311A=) c.3630+311A= (n.3630+311A=) | |
7 | g.117642904A>G | CA1737404947 | CFTR | c.*82+311A>G (n.*82+311A>G) c.*3587+311A>G (n.*3587+311A>G) c.3690+311A>G (n.3690+311A>G) c.*7A>G (n.*7A>G) c.*526+311A>G (n.*526+311A>G) c.3873+311A>G (n.3873+311A>G) c.*534+311A>G (n.*534+311A>G) c.*2248+311A>G (n.*2248+311A>G) c.3867+311A>G (n.3867+311A>G) c.*3697+311A>G (n.*3697+311A>G) c.3447+311A>G (n.3447+311A>G) c.658A>G (n.658A>G) c.1660+311A>G (n.1660+311A>G) c.455+311A>G c.1323+311A>G c.3783+311A>G (n.3783+311A>G) c.3963+311A>G (n.3963+311A>G) c.3630+311A>G (n.3630+311A>G) | dbSNP |
7 | g.117642906T>G | CA164947857 | CFTR | c.*82+313T>G (n.*82+313T>G) c.*3587+313T>G (n.*3587+313T>G) c.3690+313T>G (n.3690+313T>G) c.*9T>G (n.*9T>G) c.*526+313T>G (n.*526+313T>G) c.3873+313T>G (n.3873+313T>G) c.*534+313T>G (n.*534+313T>G) c.*2248+313T>G (n.*2248+313T>G) c.3867+313T>G (n.3867+313T>G) c.*3697+313T>G (n.*3697+313T>G) c.3447+313T>G (n.3447+313T>G) c.660T>G (n.660T>G) c.1660+313T>G (n.1660+313T>G) c.455+313T>G c.1323+313T>G c.3783+313T>G (n.3783+313T>G) c.3963+313T>G (n.3963+313T>G) c.3630+313T>G (n.3630+313T>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117642906T= | CA1737404949 | CFTR | c.*82+313T= (n.*82+313T=) c.*3587+313T= (n.*3587+313T=) c.3690+313T= (n.3690+313T=) c.*9T= (n.*9T=) c.*526+313T= (n.*526+313T=) c.3873+313T= (n.3873+313T=) c.*534+313T= (n.*534+313T=) c.*2248+313T= (n.*2248+313T=) c.3867+313T= (n.3867+313T=) c.*3697+313T= (n.*3697+313T=) c.3447+313T= (n.3447+313T=) c.660T= (n.660T=) c.1660+313T= (n.1660+313T=) c.455+313T= c.1323+313T= c.3783+313T= (n.3783+313T=) c.3963+313T= (n.3963+313T=) c.3630+313T= (n.3630+313T=) |