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.117642621dup | CA4451564 | CFTR | c.*82+28dup (n.*82+28dup) c.*3587+28dup (n.*3587+28dup) c.3690+28dup (n.3690+28dup) c.3873+28dup (n.3873+28dup) c.*526+28dup (n.*526+28dup) c.*534+28dup (n.*534+28dup) c.*2248+28dup (n.*2248+28dup) c.3867+28dup (n.3867+28dup) c.*3697+28dup (n.*3697+28dup) c.3447+28dup (n.3447+28dup) c.621+28dup (n.621+28dup) c.1660+28dup (n.1660+28dup) c.455+28dup c.1323+28dup c.3783+28dup (n.3783+28dup) c.3963+28dup (n.3963+28dup) c.3630+28dup (n.3630+28dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642621del | CA577224073 | CFTR | c.*82+28del (n.*82+28del) c.*3587+28del (n.*3587+28del) c.3690+28del (n.3690+28del) c.3873+28del (n.3873+28del) c.*526+28del (n.*526+28del) c.*534+28del (n.*534+28del) c.*2248+28del (n.*2248+28del) c.3867+28del (n.3867+28del) c.*3697+28del (n.*3697+28del) c.3447+28del (n.3447+28del) c.621+28del (n.621+28del) c.1660+28del (n.1660+28del) c.455+28del c.1323+28del c.3783+28del (n.3783+28del) c.3963+28del (n.3963+28del) c.3630+28del (n.3630+28del) | gnomAD v2 gnomAD v4 |
7 | g.117642618A= | CA1737404836 | CFTR | c.*82+25A= (n.*82+25A=) c.*3587+25A= (n.*3587+25A=) c.3690+25A= (n.3690+25A=) c.3873+25A= (n.3873+25A=) c.*526+25A= (n.*526+25A=) c.*534+25A= (n.*534+25A=) c.*2248+25A= (n.*2248+25A=) c.3867+25A= (n.3867+25A=) c.*3697+25A= (n.*3697+25A=) c.3447+25A= (n.3447+25A=) c.621+25A= (n.621+25A=) c.1660+25A= (n.1660+25A=) c.455+25A= c.1323+25A= c.3783+25A= (n.3783+25A=) c.3963+25A= (n.3963+25A=) c.3630+25A= (n.3630+25A=) | |
7 | g.117642618A>G | CA4451566 | CFTR | c.*82+25A>G (n.*82+25A>G) c.*3587+25A>G (n.*3587+25A>G) c.3690+25A>G (n.3690+25A>G) c.3873+25A>G (n.3873+25A>G) c.*526+25A>G (n.*526+25A>G) c.*534+25A>G (n.*534+25A>G) c.*2248+25A>G (n.*2248+25A>G) c.3867+25A>G (n.3867+25A>G) c.*3697+25A>G (n.*3697+25A>G) c.3447+25A>G (n.3447+25A>G) c.621+25A>G (n.621+25A>G) c.1660+25A>G (n.1660+25A>G) c.455+25A>G c.1323+25A>G c.3783+25A>G (n.3783+25A>G) c.3963+25A>G (n.3963+25A>G) c.3630+25A>G (n.3630+25A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117642620A>G | CA2777590829 | CFTR | c.*82+27A>G (n.*82+27A>G) c.*3587+27A>G (n.*3587+27A>G) c.3690+27A>G (n.3690+27A>G) c.3873+27A>G (n.3873+27A>G) c.*526+27A>G (n.*526+27A>G) c.*534+27A>G (n.*534+27A>G) c.*2248+27A>G (n.*2248+27A>G) c.3867+27A>G (n.3867+27A>G) c.*3697+27A>G (n.*3697+27A>G) c.3447+27A>G (n.3447+27A>G) c.621+27A>G (n.621+27A>G) c.1660+27A>G (n.1660+27A>G) c.455+27A>G c.1323+27A>G c.3783+27A>G (n.3783+27A>G) c.3963+27A>G (n.3963+27A>G) c.3630+27A>G (n.3630+27A>G) | |
7 | g.117642622G>A | CA915526565 | CFTR | c.*82+29G>A (n.*82+29G>A) c.*3587+29G>A (n.*3587+29G>A) c.3690+29G>A (n.3690+29G>A) c.3873+29G>A (n.3873+29G>A) c.*526+29G>A (n.*526+29G>A) c.*534+29G>A (n.*534+29G>A) c.*2248+29G>A (n.*2248+29G>A) c.3867+29G>A (n.3867+29G>A) c.*3697+29G>A (n.*3697+29G>A) c.3447+29G>A (n.3447+29G>A) c.621+29G>A (n.621+29G>A) c.1660+29G>A (n.1660+29G>A) c.455+29G>A c.1323+29G>A c.3783+29G>A (n.3783+29G>A) c.3963+29G>A (n.3963+29G>A) c.3630+29G>A (n.3630+29G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642622G>C | CA4451567 | CFTR | c.*82+29G>C (n.*82+29G>C) c.*3587+29G>C (n.*3587+29G>C) c.3690+29G>C (n.3690+29G>C) c.3873+29G>C (n.3873+29G>C) c.*526+29G>C (n.*526+29G>C) c.*534+29G>C (n.*534+29G>C) c.*2248+29G>C (n.*2248+29G>C) c.3867+29G>C (n.3867+29G>C) c.*3697+29G>C (n.*3697+29G>C) c.3447+29G>C (n.3447+29G>C) c.621+29G>C (n.621+29G>C) c.1660+29G>C (n.1660+29G>C) c.455+29G>C c.1323+29G>C c.3783+29G>C (n.3783+29G>C) c.3963+29G>C (n.3963+29G>C) c.3630+29G>C (n.3630+29G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642622G= | CA1737404837 | CFTR | c.*82+29G= (n.*82+29G=) c.*3587+29G= (n.*3587+29G=) c.3690+29G= (n.3690+29G=) c.3873+29G= (n.3873+29G=) c.*526+29G= (n.*526+29G=) c.*534+29G= (n.*534+29G=) c.*2248+29G= (n.*2248+29G=) c.3867+29G= (n.3867+29G=) c.*3697+29G= (n.*3697+29G=) c.3447+29G= (n.3447+29G=) c.621+29G= (n.621+29G=) c.1660+29G= (n.1660+29G=) c.455+29G= c.1323+29G= c.3783+29G= (n.3783+29G=) c.3963+29G= (n.3963+29G=) c.3630+29G= (n.3630+29G=) | |
7 | g.117642622_117642623insCT | CA577224074 | CFTR | c.*82+29_*82+30insCT (n.*82+29_*82+30insCT) c.*3587+29_*3587+30insCT (n.*3587+29_*3587+30insCT) c.3690+29_3690+30insCT (n.3690+29_3690+30insCT) c.3873+29_3873+30insCT (n.3873+29_3873+30insCT) c.*526+29_*526+30insCT (n.*526+29_*526+30insCT) c.*534+29_*534+30insCT (n.*534+29_*534+30insCT) c.*2248+29_*2248+30insCT (n.*2248+29_*2248+30insCT) c.3867+29_3867+30insCT (n.3867+29_3867+30insCT) c.*3697+29_*3697+30insCT (n.*3697+29_*3697+30insCT) c.3447+29_3447+30insCT (n.3447+29_3447+30insCT) c.621+29_621+30insCT (n.621+29_621+30insCT) c.1660+29_1660+30insCT (n.1660+29_1660+30insCT) c.455+29_455+30insCT c.1323+29_1323+30insCT c.3783+29_3783+30insCT (n.3783+29_3783+30insCT) c.3963+29_3963+30insCT (n.3963+29_3963+30insCT) c.3630+29_3630+30insCT (n.3630+29_3630+30insCT) | gnomAD v2 |
7 | g.117642622_117642623insACA | CA2777590833 | CFTR | c.*82+29_*82+30insACA (n.*82+29_*82+30insACA) c.*3587+29_*3587+30insACA (n.*3587+29_*3587+30insACA) c.3690+29_3690+30insACA (n.3690+29_3690+30insACA) c.3873+29_3873+30insACA (n.3873+29_3873+30insACA) c.*526+29_*526+30insACA (n.*526+29_*526+30insACA) c.*534+29_*534+30insACA (n.*534+29_*534+30insACA) c.*2248+29_*2248+30insACA (n.*2248+29_*2248+30insACA) c.3867+29_3867+30insACA (n.3867+29_3867+30insACA) c.*3697+29_*3697+30insACA (n.*3697+29_*3697+30insACA) c.3447+29_3447+30insACA (n.3447+29_3447+30insACA) c.621+29_621+30insACA (n.621+29_621+30insACA) c.1660+29_1660+30insACA (n.1660+29_1660+30insACA) c.455+29_455+30insACA c.1323+29_1323+30insACA c.3783+29_3783+30insACA (n.3783+29_3783+30insACA) c.3963+29_3963+30insACA (n.3963+29_3963+30insACA) c.3630+29_3630+30insACA (n.3630+29_3630+30insACA) | |
7 | g.117642623G>A | CA4451568 | CFTR | c.*82+30G>A (n.*82+30G>A) c.*3587+30G>A (n.*3587+30G>A) c.3690+30G>A (n.3690+30G>A) c.3873+30G>A (n.3873+30G>A) c.*526+30G>A (n.*526+30G>A) c.*534+30G>A (n.*534+30G>A) c.*2248+30G>A (n.*2248+30G>A) c.3867+30G>A (n.3867+30G>A) c.*3697+30G>A (n.*3697+30G>A) c.3447+30G>A (n.3447+30G>A) c.621+30G>A (n.621+30G>A) c.1660+30G>A (n.1660+30G>A) c.455+30G>A c.1323+30G>A c.3783+30G>A (n.3783+30G>A) c.3963+30G>A (n.3963+30G>A) c.3630+30G>A (n.3630+30G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117642623G>C | CA2777590834 | CFTR | c.*82+30G>C (n.*82+30G>C) c.*3587+30G>C (n.*3587+30G>C) c.3690+30G>C (n.3690+30G>C) c.3873+30G>C (n.3873+30G>C) c.*526+30G>C (n.*526+30G>C) c.*534+30G>C (n.*534+30G>C) c.*2248+30G>C (n.*2248+30G>C) c.3867+30G>C (n.3867+30G>C) c.*3697+30G>C (n.*3697+30G>C) c.3447+30G>C (n.3447+30G>C) c.621+30G>C (n.621+30G>C) c.1660+30G>C (n.1660+30G>C) c.455+30G>C c.1323+30G>C c.3783+30G>C (n.3783+30G>C) c.3963+30G>C (n.3963+30G>C) c.3630+30G>C (n.3630+30G>C) | |
7 | g.117642623G= | CA1737404838 | CFTR | c.*82+30G= (n.*82+30G=) c.*3587+30G= (n.*3587+30G=) c.3690+30G= (n.3690+30G=) c.3873+30G= (n.3873+30G=) c.*526+30G= (n.*526+30G=) c.*534+30G= (n.*534+30G=) c.*2248+30G= (n.*2248+30G=) c.3867+30G= (n.3867+30G=) c.*3697+30G= (n.*3697+30G=) c.3447+30G= (n.3447+30G=) c.621+30G= (n.621+30G=) c.1660+30G= (n.1660+30G=) c.455+30G= c.1323+30G= c.3783+30G= (n.3783+30G=) c.3963+30G= (n.3963+30G=) c.3630+30G= (n.3630+30G=) | |
7 | g.117642623G>T | CA2684620478 | CFTR | c.*82+30G>T (n.*82+30G>T) c.*3587+30G>T (n.*3587+30G>T) c.3690+30G>T (n.3690+30G>T) c.3873+30G>T (n.3873+30G>T) c.*526+30G>T (n.*526+30G>T) c.*534+30G>T (n.*534+30G>T) c.*2248+30G>T (n.*2248+30G>T) c.3867+30G>T (n.3867+30G>T) c.*3697+30G>T (n.*3697+30G>T) c.3447+30G>T (n.3447+30G>T) c.621+30G>T (n.621+30G>T) c.1660+30G>T (n.1660+30G>T) c.455+30G>T c.1323+30G>T c.3783+30G>T (n.3783+30G>T) c.3963+30G>T (n.3963+30G>T) c.3630+30G>T (n.3630+30G>T) | gnomAD v4 |
7 | g.117642623_117642624insATAA | CA577224075 | CFTR | c.*82+30_*82+31insATAA (n.*82+30_*82+31insATAA) c.*3587+30_*3587+31insATAA (n.*3587+30_*3587+31insATAA) c.3690+30_3690+31insATAA (n.3690+30_3690+31insATAA) c.3873+30_3873+31insATAA (n.3873+30_3873+31insATAA) c.*526+30_*526+31insATAA (n.*526+30_*526+31insATAA) c.*534+30_*534+31insATAA (n.*534+30_*534+31insATAA) c.*2248+30_*2248+31insATAA (n.*2248+30_*2248+31insATAA) c.3867+30_3867+31insATAA (n.3867+30_3867+31insATAA) c.*3697+30_*3697+31insATAA (n.*3697+30_*3697+31insATAA) c.3447+30_3447+31insATAA (n.3447+30_3447+31insATAA) c.621+30_621+31insATAA (n.621+30_621+31insATAA) c.1660+30_1660+31insATAA (n.1660+30_1660+31insATAA) c.455+30_455+31insATAA c.1323+30_1323+31insATAA c.3783+30_3783+31insATAA (n.3783+30_3783+31insATAA) c.3963+30_3963+31insATAA (n.3963+30_3963+31insATAA) c.3630+30_3630+31insATAA (n.3630+30_3630+31insATAA) | gnomAD v2 |
7 | g.117642624C= | CA1737404839 | CFTR | c.*82+31C= (n.*82+31C=) c.*3587+31C= (n.*3587+31C=) c.3690+31C= (n.3690+31C=) c.3873+31C= (n.3873+31C=) c.*526+31C= (n.*526+31C=) c.*534+31C= (n.*534+31C=) c.*2248+31C= (n.*2248+31C=) c.3867+31C= (n.3867+31C=) c.*3697+31C= (n.*3697+31C=) c.3447+31C= (n.3447+31C=) c.621+31C= (n.621+31C=) c.1660+31C= (n.1660+31C=) c.455+31C= c.1323+31C= c.3783+31C= (n.3783+31C=) c.3963+31C= (n.3963+31C=) c.3630+31C= (n.3630+31C=) | |
7 | g.117642624C>T | CA577224076 | CFTR | c.*82+31C>T (n.*82+31C>T) c.*3587+31C>T (n.*3587+31C>T) c.3690+31C>T (n.3690+31C>T) c.3873+31C>T (n.3873+31C>T) c.*526+31C>T (n.*526+31C>T) c.*534+31C>T (n.*534+31C>T) c.*2248+31C>T (n.*2248+31C>T) c.3867+31C>T (n.3867+31C>T) c.*3697+31C>T (n.*3697+31C>T) c.3447+31C>T (n.3447+31C>T) c.621+31C>T (n.621+31C>T) c.1660+31C>T (n.1660+31C>T) c.455+31C>T c.1323+31C>T c.3783+31C>T (n.3783+31C>T) c.3963+31C>T (n.3963+31C>T) c.3630+31C>T (n.3630+31C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117642625A>T | CA2684620479 | CFTR | c.*82+32A>T (n.*82+32A>T) c.*3587+32A>T (n.*3587+32A>T) c.3690+32A>T (n.3690+32A>T) c.3873+32A>T (n.3873+32A>T) c.*526+32A>T (n.*526+32A>T) c.*534+32A>T (n.*534+32A>T) c.*2248+32A>T (n.*2248+32A>T) c.3867+32A>T (n.3867+32A>T) c.*3697+32A>T (n.*3697+32A>T) c.3447+32A>T (n.3447+32A>T) c.621+32A>T (n.621+32A>T) c.1660+32A>T (n.1660+32A>T) c.455+32A>T c.1323+32A>T c.3783+32A>T (n.3783+32A>T) c.3963+32A>T (n.3963+32A>T) c.3630+32A>T (n.3630+32A>T) | gnomAD v4 |
7 | g.117642626A= | CA1737404840 | CFTR | c.*82+33A= (n.*82+33A=) c.*3587+33A= (n.*3587+33A=) c.3690+33A= (n.3690+33A=) c.3873+33A= (n.3873+33A=) c.*526+33A= (n.*526+33A=) c.*534+33A= (n.*534+33A=) c.*2248+33A= (n.*2248+33A=) c.3867+33A= (n.3867+33A=) c.*3697+33A= (n.*3697+33A=) c.3447+33A= (n.3447+33A=) c.621+33A= (n.621+33A=) c.1660+33A= (n.1660+33A=) c.455+33A= c.1323+33A= c.3783+33A= (n.3783+33A=) c.3963+33A= (n.3963+33A=) c.3630+33A= (n.3630+33A=) | |
7 | g.117642626A>G | CA327318 | CFTR | c.*82+33A>G (n.*82+33A>G) c.*3587+33A>G (n.*3587+33A>G) c.3690+33A>G (n.3690+33A>G) c.3873+33A>G (n.3873+33A>G) c.*526+33A>G (n.*526+33A>G) c.*534+33A>G (n.*534+33A>G) c.*2248+33A>G (n.*2248+33A>G) c.3867+33A>G (n.3867+33A>G) c.*3697+33A>G (n.*3697+33A>G) c.3447+33A>G (n.3447+33A>G) c.621+33A>G (n.621+33A>G) c.1660+33A>G (n.1660+33A>G) c.455+33A>G c.1323+33A>G c.3783+33A>G (n.3783+33A>G) c.3963+33A>G (n.3963+33A>G) c.3630+33A>G (n.3630+33A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117642626_117642627insTG | CA2777590839 | CFTR | c.*82+33_*82+34insTG (n.*82+33_*82+34insTG) c.*3587+33_*3587+34insTG (n.*3587+33_*3587+34insTG) c.3690+33_3690+34insTG (n.3690+33_3690+34insTG) c.3873+33_3873+34insTG (n.3873+33_3873+34insTG) c.*526+33_*526+34insTG (n.*526+33_*526+34insTG) c.*534+33_*534+34insTG (n.*534+33_*534+34insTG) c.*2248+33_*2248+34insTG (n.*2248+33_*2248+34insTG) c.3867+33_3867+34insTG (n.3867+33_3867+34insTG) c.*3697+33_*3697+34insTG (n.*3697+33_*3697+34insTG) c.3447+33_3447+34insTG (n.3447+33_3447+34insTG) c.621+33_621+34insTG (n.621+33_621+34insTG) c.1660+33_1660+34insTG (n.1660+33_1660+34insTG) c.455+33_455+34insTG c.1323+33_1323+34insTG c.3783+33_3783+34insTG (n.3783+33_3783+34insTG) c.3963+33_3963+34insTG (n.3963+33_3963+34insTG) c.3630+33_3630+34insTG (n.3630+33_3630+34insTG) | |
7 | g.117642627C>A | CA2684620480 | CFTR | c.*82+34C>A (n.*82+34C>A) c.*3587+34C>A (n.*3587+34C>A) c.3690+34C>A (n.3690+34C>A) c.3873+34C>A (n.3873+34C>A) c.*526+34C>A (n.*526+34C>A) c.*534+34C>A (n.*534+34C>A) c.*2248+34C>A (n.*2248+34C>A) c.3867+34C>A (n.3867+34C>A) c.*3697+34C>A (n.*3697+34C>A) c.3447+34C>A (n.3447+34C>A) c.621+34C>A (n.621+34C>A) c.1660+34C>A (n.1660+34C>A) c.455+34C>A c.1323+34C>A c.3783+34C>A (n.3783+34C>A) c.3963+34C>A (n.3963+34C>A) c.3630+34C>A (n.3630+34C>A) | gnomAD v4 |
7 | g.117642627_117642628insA | CA2777590843 | CFTR | c.*82+34_*82+35insA (n.*82+34_*82+35insA) c.*3587+34_*3587+35insA (n.*3587+34_*3587+35insA) c.3690+34_3690+35insA (n.3690+34_3690+35insA) c.3873+34_3873+35insA (n.3873+34_3873+35insA) c.*526+34_*526+35insA (n.*526+34_*526+35insA) c.*534+34_*534+35insA (n.*534+34_*534+35insA) c.*2248+34_*2248+35insA (n.*2248+34_*2248+35insA) c.3867+34_3867+35insA (n.3867+34_3867+35insA) c.*3697+34_*3697+35insA (n.*3697+34_*3697+35insA) c.3447+34_3447+35insA (n.3447+34_3447+35insA) c.621+34_621+35insA (n.621+34_621+35insA) c.1660+34_1660+35insA (n.1660+34_1660+35insA) c.455+34_455+35insA c.1323+34_1323+35insA c.3783+34_3783+35insA (n.3783+34_3783+35insA) c.3963+34_3963+35insA (n.3963+34_3963+35insA) c.3630+34_3630+35insA (n.3630+34_3630+35insA) | |
7 | g.117642628del | CA2684620481 | CFTR | c.*82+35del (n.*82+35del) c.*3587+35del (n.*3587+35del) c.3690+35del (n.3690+35del) c.3873+35del (n.3873+35del) c.*526+35del (n.*526+35del) c.*534+35del (n.*534+35del) c.*2248+35del (n.*2248+35del) c.3867+35del (n.3867+35del) c.*3697+35del (n.*3697+35del) c.3447+35del (n.3447+35del) c.621+35del (n.621+35del) c.1660+35del (n.1660+35del) c.455+35del c.1323+35del c.3783+35del (n.3783+35del) c.3963+35del (n.3963+35del) c.3630+35del (n.3630+35del) | gnomAD v4 |
7 | g.117642628T>A | CA577224077 | CFTR | c.*82+35T>A (n.*82+35T>A) c.*3587+35T>A (n.*3587+35T>A) c.3690+35T>A (n.3690+35T>A) c.3873+35T>A (n.3873+35T>A) c.*526+35T>A (n.*526+35T>A) c.*534+35T>A (n.*534+35T>A) c.*2248+35T>A (n.*2248+35T>A) c.3867+35T>A (n.3867+35T>A) c.*3697+35T>A (n.*3697+35T>A) c.3447+35T>A (n.3447+35T>A) c.621+35T>A (n.621+35T>A) c.1660+35T>A (n.1660+35T>A) c.455+35T>A c.1323+35T>A c.3783+35T>A (n.3783+35T>A) c.3963+35T>A (n.3963+35T>A) c.3630+35T>A (n.3630+35T>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117642628T>C | CA4451569 | CFTR | c.*82+35T>C (n.*82+35T>C) c.*3587+35T>C (n.*3587+35T>C) c.3690+35T>C (n.3690+35T>C) c.3873+35T>C (n.3873+35T>C) c.*526+35T>C (n.*526+35T>C) c.*534+35T>C (n.*534+35T>C) c.*2248+35T>C (n.*2248+35T>C) c.3867+35T>C (n.3867+35T>C) c.*3697+35T>C (n.*3697+35T>C) c.3447+35T>C (n.3447+35T>C) c.621+35T>C (n.621+35T>C) c.1660+35T>C (n.1660+35T>C) c.455+35T>C c.1323+35T>C c.3783+35T>C (n.3783+35T>C) c.3963+35T>C (n.3963+35T>C) c.3630+35T>C (n.3630+35T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117642628T= | CA1737404841 | CFTR | c.*82+35T= (n.*82+35T=) c.*3587+35T= (n.*3587+35T=) c.3690+35T= (n.3690+35T=) c.3873+35T= (n.3873+35T=) c.*526+35T= (n.*526+35T=) c.*534+35T= (n.*534+35T=) c.*2248+35T= (n.*2248+35T=) c.3867+35T= (n.3867+35T=) c.*3697+35T= (n.*3697+35T=) c.3447+35T= (n.3447+35T=) c.621+35T= (n.621+35T=) c.1660+35T= (n.1660+35T=) c.455+35T= c.1323+35T= c.3783+35T= (n.3783+35T=) c.3963+35T= (n.3963+35T=) c.3630+35T= (n.3630+35T=) | |
7 | g.117642629A= | CA1737404842 | CFTR | c.*82+36A= (n.*82+36A=) c.*3587+36A= (n.*3587+36A=) c.3690+36A= (n.3690+36A=) c.3873+36A= (n.3873+36A=) c.*526+36A= (n.*526+36A=) c.*534+36A= (n.*534+36A=) c.*2248+36A= (n.*2248+36A=) c.3867+36A= (n.3867+36A=) c.*3697+36A= (n.*3697+36A=) c.3447+36A= (n.3447+36A=) c.621+36A= (n.621+36A=) c.1660+36A= (n.1660+36A=) c.455+36A= c.1323+36A= c.3783+36A= (n.3783+36A=) c.3963+36A= (n.3963+36A=) c.3630+36A= (n.3630+36A=) | |
7 | g.117642629A>G | CA1737404843 | CFTR | c.*82+36A>G (n.*82+36A>G) c.*3587+36A>G (n.*3587+36A>G) c.3690+36A>G (n.3690+36A>G) c.3873+36A>G (n.3873+36A>G) c.*526+36A>G (n.*526+36A>G) c.*534+36A>G (n.*534+36A>G) c.*2248+36A>G (n.*2248+36A>G) c.3867+36A>G (n.3867+36A>G) c.*3697+36A>G (n.*3697+36A>G) c.3447+36A>G (n.3447+36A>G) c.621+36A>G (n.621+36A>G) c.1660+36A>G (n.1660+36A>G) c.455+36A>G c.1323+36A>G c.3783+36A>G (n.3783+36A>G) c.3963+36A>G (n.3963+36A>G) c.3630+36A>G (n.3630+36A>G) | dbSNP gnomAD v4 |
7 | g.117642630_117642631insCA | CA2777590844 | CFTR | c.*82+37_*82+38insCA (n.*82+37_*82+38insCA) c.*3587+37_*3587+38insCA (n.*3587+37_*3587+38insCA) c.3690+37_3690+38insCA (n.3690+37_3690+38insCA) c.3873+37_3873+38insCA (n.3873+37_3873+38insCA) c.*526+37_*526+38insCA (n.*526+37_*526+38insCA) c.*534+37_*534+38insCA (n.*534+37_*534+38insCA) c.*2248+37_*2248+38insCA (n.*2248+37_*2248+38insCA) c.3867+37_3867+38insCA (n.3867+37_3867+38insCA) c.*3697+37_*3697+38insCA (n.*3697+37_*3697+38insCA) c.3447+37_3447+38insCA (n.3447+37_3447+38insCA) c.621+37_621+38insCA (n.621+37_621+38insCA) c.1660+37_1660+38insCA (n.1660+37_1660+38insCA) c.455+37_455+38insCA c.1323+37_1323+38insCA c.3783+37_3783+38insCA (n.3783+37_3783+38insCA) c.3963+37_3963+38insCA (n.3963+37_3963+38insCA) c.3630+37_3630+38insCA (n.3630+37_3630+38insCA) | |
7 | g.117642631A>G | CA2684620482 | CFTR | c.*82+38A>G (n.*82+38A>G) c.*3587+38A>G (n.*3587+38A>G) c.3690+38A>G (n.3690+38A>G) c.3873+38A>G (n.3873+38A>G) c.*526+38A>G (n.*526+38A>G) c.*534+38A>G (n.*534+38A>G) c.*2248+38A>G (n.*2248+38A>G) c.3867+38A>G (n.3867+38A>G) c.*3697+38A>G (n.*3697+38A>G) c.3447+38A>G (n.3447+38A>G) c.621+38A>G (n.621+38A>G) c.1660+38A>G (n.1660+38A>G) c.455+38A>G c.1323+38A>G c.3783+38A>G (n.3783+38A>G) c.3963+38A>G (n.3963+38A>G) c.3630+38A>G (n.3630+38A>G) | gnomAD v4 |
7 | g.117642632T>A | CA2777590846 | CFTR | c.*82+39T>A (n.*82+39T>A) c.*3587+39T>A (n.*3587+39T>A) c.3690+39T>A (n.3690+39T>A) c.3873+39T>A (n.3873+39T>A) c.*526+39T>A (n.*526+39T>A) c.*534+39T>A (n.*534+39T>A) c.*2248+39T>A (n.*2248+39T>A) c.3867+39T>A (n.3867+39T>A) c.*3697+39T>A (n.*3697+39T>A) c.3447+39T>A (n.3447+39T>A) c.621+39T>A (n.621+39T>A) c.1660+39T>A (n.1660+39T>A) c.455+39T>A c.1323+39T>A c.3783+39T>A (n.3783+39T>A) c.3963+39T>A (n.3963+39T>A) c.3630+39T>A (n.3630+39T>A) | |
7 | g.117642633T>A | CA2777590848 | CFTR | c.*82+40T>A (n.*82+40T>A) c.*3587+40T>A (n.*3587+40T>A) c.3690+40T>A (n.3690+40T>A) c.3873+40T>A (n.3873+40T>A) c.*526+40T>A (n.*526+40T>A) c.*534+40T>A (n.*534+40T>A) c.*2248+40T>A (n.*2248+40T>A) c.3867+40T>A (n.3867+40T>A) c.*3697+40T>A (n.*3697+40T>A) c.3447+40T>A (n.3447+40T>A) c.621+40T>A (n.621+40T>A) c.1660+40T>A (n.1660+40T>A) c.455+40T>A c.1323+40T>A c.3783+40T>A (n.3783+40T>A) c.3963+40T>A (n.3963+40T>A) c.3630+40T>A (n.3630+40T>A) | |
7 | g.117642634A= | CA1737404844 | CFTR | c.*82+41A= (n.*82+41A=) c.*3587+41A= (n.*3587+41A=) c.3690+41A= (n.3690+41A=) c.3873+41A= (n.3873+41A=) c.*526+41A= (n.*526+41A=) c.*534+41A= (n.*534+41A=) c.*2248+41A= (n.*2248+41A=) c.3867+41A= (n.3867+41A=) c.*3697+41A= (n.*3697+41A=) c.3447+41A= (n.3447+41A=) c.621+41A= (n.621+41A=) c.1660+41A= (n.1660+41A=) c.455+41A= c.1323+41A= c.3783+41A= (n.3783+41A=) c.3963+41A= (n.3963+41A=) c.3630+41A= (n.3630+41A=) | |
7 | g.117642634A>G | CA577224078 | CFTR | c.*82+41A>G (n.*82+41A>G) c.*3587+41A>G (n.*3587+41A>G) c.3690+41A>G (n.3690+41A>G) c.3873+41A>G (n.3873+41A>G) c.*526+41A>G (n.*526+41A>G) c.*534+41A>G (n.*534+41A>G) c.*2248+41A>G (n.*2248+41A>G) c.3867+41A>G (n.3867+41A>G) c.*3697+41A>G (n.*3697+41A>G) c.3447+41A>G (n.3447+41A>G) c.621+41A>G (n.621+41A>G) c.1660+41A>G (n.1660+41A>G) c.455+41A>G c.1323+41A>G c.3783+41A>G (n.3783+41A>G) c.3963+41A>G (n.3963+41A>G) c.3630+41A>G (n.3630+41A>G) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117642635T>C | CA2684620483 | CFTR | c.*82+42T>C (n.*82+42T>C) c.*3587+42T>C (n.*3587+42T>C) c.3690+42T>C (n.3690+42T>C) c.3873+42T>C (n.3873+42T>C) c.*526+42T>C (n.*526+42T>C) c.*534+42T>C (n.*534+42T>C) c.*2248+42T>C (n.*2248+42T>C) c.3867+42T>C (n.3867+42T>C) c.*3697+42T>C (n.*3697+42T>C) c.3447+42T>C (n.3447+42T>C) c.621+42T>C (n.621+42T>C) c.1660+42T>C (n.1660+42T>C) c.455+42T>C c.1323+42T>C c.3783+42T>C (n.3783+42T>C) c.3963+42T>C (n.3963+42T>C) c.3630+42T>C (n.3630+42T>C) | gnomAD v4 |
7 | g.117642636A>G | CA2684620484 | CFTR | c.*82+43A>G (n.*82+43A>G) c.*3587+43A>G (n.*3587+43A>G) c.3690+43A>G (n.3690+43A>G) c.3873+43A>G (n.3873+43A>G) c.*526+43A>G (n.*526+43A>G) c.*534+43A>G (n.*534+43A>G) c.*2248+43A>G (n.*2248+43A>G) c.3867+43A>G (n.3867+43A>G) c.*3697+43A>G (n.*3697+43A>G) c.3447+43A>G (n.3447+43A>G) c.621+43A>G (n.621+43A>G) c.1660+43A>G (n.1660+43A>G) c.455+43A>G c.1323+43A>G c.3783+43A>G (n.3783+43A>G) c.3963+43A>G (n.3963+43A>G) c.3630+43A>G (n.3630+43A>G) | gnomAD v4 |
7 | g.117642636_117642637delinsAT | CA1737404845 | CFTR | c.*82+43_*82+44delinsAT (n.*82+43_*82+44delinsAT) c.*3587+43_*3587+44delinsAT (n.*3587+43_*3587+44delinsAT) c.3690+43_3690+44delinsAT (n.3690+43_3690+44delinsAT) c.3873+43_3873+44delinsAT (n.3873+43_3873+44delinsAT) c.*526+43_*526+44delinsAT (n.*526+43_*526+44delinsAT) c.*534+43_*534+44delinsAT (n.*534+43_*534+44delinsAT) c.*2248+43_*2248+44delinsAT (n.*2248+43_*2248+44delinsAT) c.3867+43_3867+44delinsAT (n.3867+43_3867+44delinsAT) c.*3697+43_*3697+44delinsAT (n.*3697+43_*3697+44delinsAT) c.3447+43_3447+44delinsAT (n.3447+43_3447+44delinsAT) c.621+43_621+44delinsAT (n.621+43_621+44delinsAT) c.1660+43_1660+44delinsAT (n.1660+43_1660+44delinsAT) c.455+43_455+44delinsAT c.1323+43_1323+44delinsAT c.3783+43_3783+44delinsAT (n.3783+43_3783+44delinsAT) c.3963+43_3963+44delinsAT (n.3963+43_3963+44delinsAT) c.3630+43_3630+44delinsAT (n.3630+43_3630+44delinsAT) | |
7 | g.117642637T>C | CA2684620485 | CFTR | c.*82+44T>C (n.*82+44T>C) c.*3587+44T>C (n.*3587+44T>C) c.3690+44T>C (n.3690+44T>C) c.3873+44T>C (n.3873+44T>C) c.*526+44T>C (n.*526+44T>C) c.*534+44T>C (n.*534+44T>C) c.*2248+44T>C (n.*2248+44T>C) c.3867+44T>C (n.3867+44T>C) c.*3697+44T>C (n.*3697+44T>C) c.3447+44T>C (n.3447+44T>C) c.621+44T>C (n.621+44T>C) c.1660+44T>C (n.1660+44T>C) c.455+44T>C c.1323+44T>C c.3783+44T>C (n.3783+44T>C) c.3963+44T>C (n.3963+44T>C) c.3630+44T>C (n.3630+44T>C) | gnomAD v4 |
7 | g.117642642dup | CA164947775 | CFTR | c.*82+49dup (n.*82+49dup) c.*3587+49dup (n.*3587+49dup) c.3690+49dup (n.3690+49dup) c.3873+49dup (n.3873+49dup) c.*526+49dup (n.*526+49dup) c.*534+49dup (n.*534+49dup) c.*2248+49dup (n.*2248+49dup) c.3867+49dup (n.3867+49dup) c.*3697+49dup (n.*3697+49dup) c.3447+49dup (n.3447+49dup) c.621+49dup (n.621+49dup) c.1660+49dup (n.1660+49dup) c.455+49dup c.1323+49dup c.3783+49dup (n.3783+49dup) c.3963+49dup (n.3963+49dup) c.3630+49dup (n.3630+49dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642642del | CA577224079 | CFTR | c.*82+49del (n.*82+49del) c.*3587+49del (n.*3587+49del) c.3690+49del (n.3690+49del) c.3873+49del (n.3873+49del) c.*526+49del (n.*526+49del) c.*534+49del (n.*534+49del) c.*2248+49del (n.*2248+49del) c.3867+49del (n.3867+49del) c.*3697+49del (n.*3697+49del) c.3447+49del (n.3447+49del) c.621+49del (n.621+49del) c.1660+49del (n.1660+49del) c.455+49del c.1323+49del c.3783+49del (n.3783+49del) c.3963+49del (n.3963+49del) c.3630+49del (n.3630+49del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117642638T>A | CA2684620486 | CFTR | c.*82+45T>A (n.*82+45T>A) c.*3587+45T>A (n.*3587+45T>A) c.3690+45T>A (n.3690+45T>A) c.3873+45T>A (n.3873+45T>A) c.*526+45T>A (n.*526+45T>A) c.*534+45T>A (n.*534+45T>A) c.*2248+45T>A (n.*2248+45T>A) c.3867+45T>A (n.3867+45T>A) c.*3697+45T>A (n.*3697+45T>A) c.3447+45T>A (n.3447+45T>A) c.621+45T>A (n.621+45T>A) c.1660+45T>A (n.1660+45T>A) c.455+45T>A c.1323+45T>A c.3783+45T>A (n.3783+45T>A) c.3963+45T>A (n.3963+45T>A) c.3630+45T>A (n.3630+45T>A) | gnomAD v4 |
7 | g.117642638T>C | CA1737404846 | CFTR | c.*82+45T>C (n.*82+45T>C) c.*3587+45T>C (n.*3587+45T>C) c.3690+45T>C (n.3690+45T>C) c.3873+45T>C (n.3873+45T>C) c.*526+45T>C (n.*526+45T>C) c.*534+45T>C (n.*534+45T>C) c.*2248+45T>C (n.*2248+45T>C) c.3867+45T>C (n.3867+45T>C) c.*3697+45T>C (n.*3697+45T>C) c.3447+45T>C (n.3447+45T>C) c.621+45T>C (n.621+45T>C) c.1660+45T>C (n.1660+45T>C) c.455+45T>C c.1323+45T>C c.3783+45T>C (n.3783+45T>C) c.3963+45T>C (n.3963+45T>C) c.3630+45T>C (n.3630+45T>C) | dbSNP |
7 | g.117642638T= | CA1737404847 | CFTR | c.*82+45T= (n.*82+45T=) c.*3587+45T= (n.*3587+45T=) c.3690+45T= (n.3690+45T=) c.3873+45T= (n.3873+45T=) c.*526+45T= (n.*526+45T=) c.*534+45T= (n.*534+45T=) c.*2248+45T= (n.*2248+45T=) c.3867+45T= (n.3867+45T=) c.*3697+45T= (n.*3697+45T=) c.3447+45T= (n.3447+45T=) c.621+45T= (n.621+45T=) c.1660+45T= (n.1660+45T=) c.455+45T= c.1323+45T= c.3783+45T= (n.3783+45T=) c.3963+45T= (n.3963+45T=) c.3630+45T= (n.3630+45T=) | |
7 | g.117642641T>G | CA4451570 | CFTR | c.*82+48T>G (n.*82+48T>G) c.*3587+48T>G (n.*3587+48T>G) c.3690+48T>G (n.3690+48T>G) c.3873+48T>G (n.3873+48T>G) c.*526+48T>G (n.*526+48T>G) c.*534+48T>G (n.*534+48T>G) c.*2248+48T>G (n.*2248+48T>G) c.3867+48T>G (n.3867+48T>G) c.*3697+48T>G (n.*3697+48T>G) c.3447+48T>G (n.3447+48T>G) c.621+48T>G (n.621+48T>G) c.1660+48T>G (n.1660+48T>G) c.455+48T>G c.1323+48T>G c.3783+48T>G (n.3783+48T>G) c.3963+48T>G (n.3963+48T>G) c.3630+48T>G (n.3630+48T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117642641T= | CA1737404848 | CFTR | c.*82+48T= (n.*82+48T=) c.*3587+48T= (n.*3587+48T=) c.3690+48T= (n.3690+48T=) c.3873+48T= (n.3873+48T=) c.*526+48T= (n.*526+48T=) c.*534+48T= (n.*534+48T=) c.*2248+48T= (n.*2248+48T=) c.3867+48T= (n.3867+48T=) c.*3697+48T= (n.*3697+48T=) c.3447+48T= (n.3447+48T=) c.621+48T= (n.621+48T=) c.1660+48T= (n.1660+48T=) c.455+48T= c.1323+48T= c.3783+48T= (n.3783+48T=) c.3963+48T= (n.3963+48T=) c.3630+48T= (n.3630+48T=) | |
7 | g.117642642T>A | CA1737404850 | CFTR | c.*82+49T>A (n.*82+49T>A) c.*3587+49T>A (n.*3587+49T>A) c.3690+49T>A (n.3690+49T>A) c.3873+49T>A (n.3873+49T>A) c.*526+49T>A (n.*526+49T>A) c.*534+49T>A (n.*534+49T>A) c.*2248+49T>A (n.*2248+49T>A) c.3867+49T>A (n.3867+49T>A) c.*3697+49T>A (n.*3697+49T>A) c.3447+49T>A (n.3447+49T>A) c.621+49T>A (n.621+49T>A) c.1660+49T>A (n.1660+49T>A) c.455+49T>A c.1323+49T>A c.3783+49T>A (n.3783+49T>A) c.3963+49T>A (n.3963+49T>A) c.3630+49T>A (n.3630+49T>A) | dbSNP gnomAD v4 |
7 | g.117642642T>C | CA2579000368 | CFTR | c.*82+49T>C (n.*82+49T>C) c.*3587+49T>C (n.*3587+49T>C) c.3690+49T>C (n.3690+49T>C) c.3873+49T>C (n.3873+49T>C) c.*526+49T>C (n.*526+49T>C) c.*534+49T>C (n.*534+49T>C) c.*2248+49T>C (n.*2248+49T>C) c.3867+49T>C (n.3867+49T>C) c.*3697+49T>C (n.*3697+49T>C) c.3447+49T>C (n.3447+49T>C) c.621+49T>C (n.621+49T>C) c.1660+49T>C (n.1660+49T>C) c.455+49T>C c.1323+49T>C c.3783+49T>C (n.3783+49T>C) c.3963+49T>C (n.3963+49T>C) c.3630+49T>C (n.3630+49T>C) |