| 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.117642467del | CA276111 | CFTR | c.3547del (p.Glu1183LysfsTer?) c.*3461del (n.*3461del) c.3564del (p.Lys1189ArgfsTer9) c.3747del (p.Lys1250ArgfsTer9) c.*400del (n.*400del) c.*408del (n.*408del) c.*2122del (n.*2122del) c.3741del (p.Lys1248ArgfsTer9) c.*3571del (n.*3571del) c.3321del (p.Lys1108ArgfsTer9) c.495del (p.Lys166ArgfsTer9) c.1534del (n.1534del) c.329del c.1197del c.3657del (p.Lys1220ArgfsTer9) c.3837del (p.Lys1280ArgfsTer9) c.3504del (p.Lys1169ArgfsTer9) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117642467G>A | CA242296 | CFTR | c.3547G>A (p.Glu1183Lys) c.*3461G>A (n.*3461G>A) c.3564G>A (p.Gly1188=) c.3747G>A (p.Gly1249=) c.*400G>A (n.*400G>A) c.*408G>A (n.*408G>A) c.*2122G>A (n.*2122G>A) c.3741G>A (p.Gly1247=) c.*3571G>A (n.*3571G>A) c.3321G>A (p.Gly1107=) c.495G>A (p.Gly165=) c.1534G>A (n.1534G>A) c.329G>A c.1197G>A c.3657G>A (p.Gly1219=) c.3837G>A (p.Gly1279=) c.3504G>A (p.Gly1168=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117642467G>C | CA457228074 | CFTR | c.3547G>C (p.Glu1183Gln) c.*3461G>C (n.*3461G>C) c.3564G>C (p.Gly1188=) c.3747G>C (p.Gly1249=) c.*400G>C (n.*400G>C) c.*408G>C (n.*408G>C) c.*2122G>C (n.*2122G>C) c.3741G>C (p.Gly1247=) c.*3571G>C (n.*3571G>C) c.3321G>C (p.Gly1107=) c.495G>C (p.Gly165=) c.1534G>C (n.1534G>C) c.329G>C c.1197G>C c.3657G>C (p.Gly1219=) c.3837G>C (p.Gly1279=) c.3504G>C (p.Gly1168=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642467G= | CA1737404745 | CFTR | c.3547G= (p.Glu1183=) c.*3461G= (n.*3461G=) c.3564G= (p.Gly1188=) c.3747G= (p.Gly1249=) c.*400G= (n.*400G=) c.*408G= (n.*408G=) c.*2122G= (n.*2122G=) c.3741G= (p.Gly1247=) c.*3571G= (n.*3571G=) c.3321G= (p.Gly1107=) c.495G= (p.Gly165=) c.1534G= (n.1534G=) c.329G= c.1197G= c.3657G= (p.Gly1219=) c.3837G= (p.Gly1279=) c.3504G= (p.Gly1168=) | |
| 7 | g.117642467G>T | CA457228073 | CFTR | c.3547G>T (p.Glu1183Ter) c.*3461G>T (n.*3461G>T) c.3564G>T (p.Gly1188=) c.3747G>T (p.Gly1249=) c.*400G>T (n.*400G>T) c.*408G>T (n.*408G>T) c.*2122G>T (n.*2122G>T) c.3741G>T (p.Gly1247=) c.*3571G>T (n.*3571G>T) c.3321G>T (p.Gly1107=) c.495G>T (p.Gly165=) c.1534G>T (n.1534G>T) c.329G>T c.1197G>T c.3657G>T (p.Gly1219=) c.3837G>T (p.Gly1279=) c.3504G>T (p.Gly1168=) | |
| 7 | g.117642469_117642471dup | CA915945448 | CFTR | c.3549_3551dup (p.Glu1184_Tyr1185insGlu) c.*3463_*3465dup (n.*3463_*3465dup) c.3566_3568dup (p.Lys1189_Ser1190insLys) c.3749_3751dup (p.Lys1250_Ser1251insLys) c.*402_*404dup (n.*402_*404dup) c.*410_*412dup (n.*410_*412dup) c.*2124_*2126dup (n.*2124_*2126dup) c.3743_3745dup (p.Lys1248_Ser1249insLys) c.*3573_*3575dup (n.*3573_*3575dup) c.3323_3325dup (p.Lys1108_Ser1109insLys) c.497_499dup (p.Lys166_Ser167insLys) c.1536_1538dup (n.1536_1538dup) c.331_333dup c.1199_1201dup c.3659_3661dup (p.Lys1220_Ser1221insLys) c.3839_3841dup (p.Lys1280_Ser1281insLys) c.3506_3508dup (p.Lys1169_Ser1170insLys) | ClinVar dbSNP |
| 7 | g.117642468A>C | CA368974530 | CFTR | c.3548A>C (p.Glu1183Ala) c.*3462A>C (n.*3462A>C) c.3565A>C (p.Lys1189Gln) c.3748A>C (p.Lys1250Gln) c.*401A>C (n.*401A>C) c.*409A>C (n.*409A>C) c.*2123A>C (n.*2123A>C) c.3742A>C (p.Lys1248Gln) c.*3572A>C (n.*3572A>C) c.3322A>C (p.Lys1108Gln) c.496A>C (p.Lys166Gln) c.1535A>C (n.1535A>C) c.330A>C c.1198A>C c.3658A>C (p.Lys1220Gln) c.3838A>C (p.Lys1280Gln) c.3505A>C (p.Lys1169Gln) | |
| 7 | g.117642468A>G | CA368974532 | CFTR | c.3548A>G (p.Glu1183Gly) c.*3462A>G (n.*3462A>G) c.3565A>G (p.Lys1189Glu) c.3748A>G (p.Lys1250Glu) c.*401A>G (n.*401A>G) c.*409A>G (n.*409A>G) c.*2123A>G (n.*2123A>G) c.3742A>G (p.Lys1248Glu) c.*3572A>G (n.*3572A>G) c.3322A>G (p.Lys1108Glu) c.496A>G (p.Lys166Glu) c.1535A>G (n.1535A>G) c.330A>G c.1198A>G c.3658A>G (p.Lys1220Glu) c.3838A>G (p.Lys1280Glu) c.3505A>G (p.Lys1169Glu) | |
| 7 | g.117642468A>T | CA368974533 | CFTR | c.3548A>T (p.Glu1183Val) c.*3462A>T (n.*3462A>T) c.3565A>T (p.Lys1189Ter) c.3748A>T (p.Lys1250Ter) c.*401A>T (n.*401A>T) c.*409A>T (n.*409A>T) c.*2123A>T (n.*2123A>T) c.3742A>T (p.Lys1248Ter) c.*3572A>T (n.*3572A>T) c.3322A>T (p.Lys1108Ter) c.496A>T (p.Lys166Ter) c.1535A>T (n.1535A>T) c.330A>T c.1198A>T c.3658A>T (p.Lys1220Ter) c.3838A>T (p.Lys1280Ter) c.3505A>T (p.Lys1169Ter) | |
| 7 | g.117642469A>C | CA368974535 | CFTR | c.3549A>C (p.Glu1183Asp) c.*3463A>C (n.*3463A>C) c.3566A>C (p.Lys1189Thr) c.3749A>C (p.Lys1250Thr) c.*402A>C (n.*402A>C) c.*410A>C (n.*410A>C) c.*2124A>C (n.*2124A>C) c.3743A>C (p.Lys1248Thr) c.*3573A>C (n.*3573A>C) c.3323A>C (p.Lys1108Thr) c.497A>C (p.Lys166Thr) c.1536A>C (n.1536A>C) c.331A>C c.1199A>C c.3659A>C (p.Lys1220Thr) c.3839A>C (p.Lys1280Thr) c.3506A>C (p.Lys1169Thr) | |
| 7 | g.117642469A>G | CA368974537 | CFTR | c.3549A>G (p.Glu1183=) c.*3463A>G (n.*3463A>G) c.3566A>G (p.Lys1189Arg) c.3749A>G (p.Lys1250Arg) c.*402A>G (n.*402A>G) c.*410A>G (n.*410A>G) c.*2124A>G (n.*2124A>G) c.3743A>G (p.Lys1248Arg) c.*3573A>G (n.*3573A>G) c.3323A>G (p.Lys1108Arg) c.497A>G (p.Lys166Arg) c.1536A>G (n.1536A>G) c.331A>G c.1199A>G c.3659A>G (p.Lys1220Arg) c.3839A>G (p.Lys1280Arg) c.3506A>G (p.Lys1169Arg) | |
| 7 | g.117642469A>T | CA368974539 | CFTR | c.3549A>T (p.Glu1183Asp) c.*3463A>T (n.*3463A>T) c.3566A>T (p.Lys1189Met) c.3749A>T (p.Lys1250Met) c.*402A>T (n.*402A>T) c.*410A>T (n.*410A>T) c.*2124A>T (n.*2124A>T) c.3743A>T (p.Lys1248Met) c.*3573A>T (n.*3573A>T) c.3323A>T (p.Lys1108Met) c.497A>T (p.Lys166Met) c.1536A>T (n.1536A>T) c.331A>T c.1199A>T c.3659A>T (p.Lys1220Met) c.3839A>T (p.Lys1280Met) c.3506A>T (p.Lys1169Met) | |
| 7 | g.117642470G>A | CA457228075 | CFTR | c.3550G>A (p.Glu1184Lys) c.*3464G>A (n.*3464G>A) c.3567G>A (p.Lys1189=) c.3750G>A (p.Lys1250=) c.*403G>A (n.*403G>A) c.*411G>A (n.*411G>A) c.*2125G>A (n.*2125G>A) c.3744G>A (p.Lys1248=) c.*3574G>A (n.*3574G>A) c.3324G>A (p.Lys1108=) c.498G>A (p.Lys166=) c.1537G>A (n.1537G>A) c.332G>A c.1200G>A c.3660G>A (p.Lys1220=) c.3840G>A (p.Lys1280=) c.3507G>A (p.Lys1169=) | |
| 7 | g.117642470G>C | CA368974541 | CFTR | c.3550G>C (p.Glu1184Gln) c.*3464G>C (n.*3464G>C) c.3567G>C (p.Lys1189Asn) c.3750G>C (p.Lys1250Asn) c.*403G>C (n.*403G>C) c.*411G>C (n.*411G>C) c.*2125G>C (n.*2125G>C) c.3744G>C (p.Lys1248Asn) c.*3574G>C (n.*3574G>C) c.3324G>C (p.Lys1108Asn) c.498G>C (p.Lys166Asn) c.1537G>C (n.1537G>C) c.332G>C c.1200G>C c.3660G>C (p.Lys1220Asn) c.3840G>C (p.Lys1280Asn) c.3507G>C (p.Lys1169Asn) | |
| 7 | g.117642470G>T | CA368974543 | CFTR | c.3550G>T (p.Glu1184Ter) c.*3464G>T (n.*3464G>T) c.3567G>T (p.Lys1189Asn) c.3750G>T (p.Lys1250Asn) c.*403G>T (n.*403G>T) c.*411G>T (n.*411G>T) c.*2125G>T (n.*2125G>T) c.3744G>T (p.Lys1248Asn) c.*3574G>T (n.*3574G>T) c.3324G>T (p.Lys1108Asn) c.498G>T (p.Lys166Asn) c.1537G>T (n.1537G>T) c.332G>T c.1200G>T c.3660G>T (p.Lys1220Asn) c.3840G>T (p.Lys1280Asn) c.3507G>T (p.Lys1169Asn) | |
| 7 | g.117642471A>C | CA368974546 | CFTR | c.3551A>C (p.Glu1184Ala) c.*3465A>C (n.*3465A>C) c.3568A>C (p.Ser1190Arg) c.3751A>C (p.Ser1251Arg) c.*404A>C (n.*404A>C) c.*412A>C (n.*412A>C) c.*2126A>C (n.*2126A>C) c.3745A>C (p.Ser1249Arg) c.*3575A>C (n.*3575A>C) c.3325A>C (p.Ser1109Arg) c.499A>C (p.Ser167Arg) c.1538A>C (n.1538A>C) c.333A>C c.1201A>C c.3661A>C (p.Ser1221Arg) c.3841A>C (p.Ser1281Arg) c.3508A>C (p.Ser1170Arg) | |
| 7 | g.117642471A>G | CA368974548 | CFTR | c.3551A>G (p.Glu1184Gly) c.*3465A>G (n.*3465A>G) c.3568A>G (p.Ser1190Gly) c.3751A>G (p.Ser1251Gly) c.*404A>G (n.*404A>G) c.*412A>G (n.*412A>G) c.*2126A>G (n.*2126A>G) c.3745A>G (p.Ser1249Gly) c.*3575A>G (n.*3575A>G) c.3325A>G (p.Ser1109Gly) c.499A>G (p.Ser167Gly) c.1538A>G (n.1538A>G) c.333A>G c.1201A>G c.3661A>G (p.Ser1221Gly) c.3841A>G (p.Ser1281Gly) c.3508A>G (p.Ser1170Gly) | gnomAD v4 |
| 7 | g.117642471A>T | CA368974551 | CFTR | c.3551A>T (p.Glu1184Val) c.*3465A>T (n.*3465A>T) c.3568A>T (p.Ser1190Cys) c.3751A>T (p.Ser1251Cys) c.*404A>T (n.*404A>T) c.*412A>T (n.*412A>T) c.*2126A>T (n.*2126A>T) c.3745A>T (p.Ser1249Cys) c.*3575A>T (n.*3575A>T) c.3325A>T (p.Ser1109Cys) c.499A>T (p.Ser167Cys) c.1538A>T (n.1538A>T) c.333A>T c.1201A>T c.3661A>T (p.Ser1221Cys) c.3841A>T (p.Ser1281Cys) c.3508A>T (p.Ser1170Cys) | |
| 7 | g.117642472G>A | CA325603 | CFTR | c.3552G>A (p.Glu1184=) c.*3466G>A (n.*3466G>A) c.3569G>A (p.Ser1190Asn) c.3752G>A (p.Ser1251Asn) c.*405G>A (n.*405G>A) c.*413G>A (n.*413G>A) c.*2127G>A (n.*2127G>A) c.3746G>A (p.Ser1249Asn) c.*3576G>A (n.*3576G>A) c.3326G>A (p.Ser1109Asn) c.500G>A (p.Ser167Asn) c.1539G>A (n.1539G>A) c.334G>A c.1202G>A c.3662G>A (p.Ser1221Asn) c.3842G>A (p.Ser1281Asn) c.3509G>A (p.Ser1170Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642472G>C | CA368974569 | CFTR | c.3552G>C (p.Glu1184Asp) c.*3466G>C (n.*3466G>C) c.3569G>C (p.Ser1190Thr) c.3752G>C (p.Ser1251Thr) c.*405G>C (n.*405G>C) c.*413G>C (n.*413G>C) c.*2127G>C (n.*2127G>C) c.3746G>C (p.Ser1249Thr) c.*3576G>C (n.*3576G>C) c.3326G>C (p.Ser1109Thr) c.500G>C (p.Ser167Thr) c.1539G>C (n.1539G>C) c.334G>C c.1202G>C c.3662G>C (p.Ser1221Thr) c.3842G>C (p.Ser1281Thr) c.3509G>C (p.Ser1170Thr) | ClinVar |
| 7 | g.117642472G= | CA1737404746 | CFTR | c.3552G= (p.Glu1184=) c.*3466G= (n.*3466G=) c.3569G= (p.Ser1190=) c.3752G= (p.Ser1251=) c.*405G= (n.*405G=) c.*413G= (n.*413G=) c.*2127G= (n.*2127G=) c.3746G= (p.Ser1249=) c.*3576G= (n.*3576G=) c.3326G= (p.Ser1109=) c.500G= (p.Ser167=) c.1539G= (n.1539G=) c.334G= c.1202G= c.3662G= (p.Ser1221=) c.3842G= (p.Ser1281=) c.3509G= (p.Ser1170=) | |
| 7 | g.117642472G>T | CA368974557 | CFTR | c.3552G>T (p.Glu1184Asp) c.*3466G>T (n.*3466G>T) c.3569G>T (p.Ser1190Ile) c.3752G>T (p.Ser1251Ile) c.*405G>T (n.*405G>T) c.*413G>T (n.*413G>T) c.*2127G>T (n.*2127G>T) c.3746G>T (p.Ser1249Ile) c.*3576G>T (n.*3576G>T) c.3326G>T (p.Ser1109Ile) c.500G>T (p.Ser167Ile) c.1539G>T (n.1539G>T) c.334G>T c.1202G>T c.3662G>T (p.Ser1221Ile) c.3842G>T (p.Ser1281Ile) c.3509G>T (p.Ser1170Ile) | |
| 7 | g.117642473T>A | CA368974577 | CFTR | c.3553T>A (p.Tyr1185Asn) c.*3467T>A (n.*3467T>A) c.3570T>A (p.Ser1190Arg) c.3753T>A (p.Ser1251Arg) c.*406T>A (n.*406T>A) c.*414T>A (n.*414T>A) c.*2128T>A (n.*2128T>A) c.3747T>A (p.Ser1249Arg) c.*3577T>A (n.*3577T>A) c.3327T>A (p.Ser1109Arg) c.501T>A (p.Ser167Arg) c.1540T>A (n.1540T>A) c.335T>A c.1203T>A c.3663T>A (p.Ser1221Arg) c.3843T>A (p.Ser1281Arg) c.3510T>A (p.Ser1170Arg) | |
| 7 | g.117642473T>C | CA164947522 | CFTR | c.3553T>C (p.Tyr1185His) c.*3467T>C (n.*3467T>C) c.3570T>C (p.Ser1190=) c.3753T>C (p.Ser1251=) c.*406T>C (n.*406T>C) c.*414T>C (n.*414T>C) c.*2128T>C (n.*2128T>C) c.3747T>C (p.Ser1249=) c.*3577T>C (n.*3577T>C) c.3327T>C (p.Ser1109=) c.501T>C (p.Ser167=) c.1540T>C (n.1540T>C) c.335T>C c.1203T>C c.3663T>C (p.Ser1221=) c.3843T>C (p.Ser1281=) c.3510T>C (p.Ser1170=) | dbSNP |
| 7 | g.117642473T>G | CA368974574 | CFTR | c.3553T>G (p.Tyr1185Asp) c.*3467T>G (n.*3467T>G) c.3570T>G (p.Ser1190Arg) c.3753T>G (p.Ser1251Arg) c.*406T>G (n.*406T>G) c.*414T>G (n.*414T>G) c.*2128T>G (n.*2128T>G) c.3747T>G (p.Ser1249Arg) c.*3577T>G (n.*3577T>G) c.3327T>G (p.Ser1109Arg) c.501T>G (p.Ser167Arg) c.1540T>G (n.1540T>G) c.335T>G c.1203T>G c.3663T>G (p.Ser1221Arg) c.3843T>G (p.Ser1281Arg) c.3510T>G (p.Ser1170Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117642473T= | CA1737404747 | CFTR | c.3553T= (p.Tyr1185=) c.*3467T= (n.*3467T=) c.3570T= (p.Ser1190=) c.3753T= (p.Ser1251=) c.*406T= (n.*406T=) c.*414T= (n.*414T=) c.*2128T= (n.*2128T=) c.3747T= (p.Ser1249=) c.*3577T= (n.*3577T=) c.3327T= (p.Ser1109=) c.501T= (p.Ser167=) c.1540T= (n.1540T=) c.335T= c.1203T= c.3663T= (p.Ser1221=) c.3843T= (p.Ser1281=) c.3510T= (p.Ser1170=) | |
| 7 | g.117642474A= | CA1737404748 | CFTR | c.3554A= (p.Tyr1185=) c.*3468A= (n.*3468A=) c.3571A= (p.Thr1191=) c.3754A= (p.Thr1252=) c.*407A= (n.*407A=) c.*415A= (n.*415A=) c.*2129A= (n.*2129A=) c.3748A= (p.Thr1250=) c.*3578A= (n.*3578A=) c.3328A= (p.Thr1110=) c.502A= (p.Thr168=) c.1541A= (n.1541A=) c.336A= c.1204A= c.3664A= (p.Thr1222=) c.3844A= (p.Thr1282=) c.3511A= (p.Thr1171=) | |
| 7 | g.117642474A>C | CA327276 | CFTR | c.3554A>C (p.Tyr1185Ser) c.*3468A>C (n.*3468A>C) c.3571A>C (p.Thr1191Pro) c.3754A>C (p.Thr1252Pro) c.*407A>C (n.*407A>C) c.*415A>C (n.*415A>C) c.*2129A>C (n.*2129A>C) c.3748A>C (p.Thr1250Pro) c.*3578A>C (n.*3578A>C) c.3328A>C (p.Thr1110Pro) c.502A>C (p.Thr168Pro) c.1541A>C (n.1541A>C) c.336A>C c.1204A>C c.3664A>C (p.Thr1222Pro) c.3844A>C (p.Thr1282Pro) c.3511A>C (p.Thr1171Pro) | ClinVar dbSNP |
| 7 | g.117642474A>G | CA368974582 | CFTR | c.3554A>G (p.Tyr1185Cys) c.*3468A>G (n.*3468A>G) c.3571A>G (p.Thr1191Ala) c.3754A>G (p.Thr1252Ala) c.*407A>G (n.*407A>G) c.*415A>G (n.*415A>G) c.*2129A>G (n.*2129A>G) c.3748A>G (p.Thr1250Ala) c.*3578A>G (n.*3578A>G) c.3328A>G (p.Thr1110Ala) c.502A>G (p.Thr168Ala) c.1541A>G (n.1541A>G) c.336A>G c.1204A>G c.3664A>G (p.Thr1222Ala) c.3844A>G (p.Thr1282Ala) c.3511A>G (p.Thr1171Ala) | |
| 7 | g.117642474A>T | CA368974585 | CFTR | c.3554A>T (p.Tyr1185Phe) c.*3468A>T (n.*3468A>T) c.3571A>T (p.Thr1191Ser) c.3754A>T (p.Thr1252Ser) c.*407A>T (n.*407A>T) c.*415A>T (n.*415A>T) c.*2129A>T (n.*2129A>T) c.3748A>T (p.Thr1250Ser) c.*3578A>T (n.*3578A>T) c.3328A>T (p.Thr1110Ser) c.502A>T (p.Thr168Ser) c.1541A>T (n.1541A>T) c.336A>T c.1204A>T c.3664A>T (p.Thr1222Ser) c.3844A>T (p.Thr1282Ser) c.3511A>T (p.Thr1171Ser) | |
| 7 | g.117642474dup | CA2695205218 | CFTR | c.3554dup (p.Tyr1185Ter) c.*3468dup (n.*3468dup) c.3571dup (p.Thr1191AsnfsTer13) c.3754dup (p.Thr1252AsnfsTer13) c.*407dup (n.*407dup) c.*415dup (n.*415dup) c.*2129dup (n.*2129dup) c.3748dup (p.Thr1250AsnfsTer13) c.*3578dup (n.*3578dup) c.3328dup (p.Thr1110AsnfsTer13) c.502dup (p.Thr168AsnfsTer13) c.1541dup (n.1541dup) c.336dup c.1204dup c.3664dup (p.Thr1222AsnfsTer13) c.3844dup (p.Thr1282AsnfsTer13) c.3511dup (p.Thr1171AsnfsTer13) | |
| 7 | g.117642475C>A | CA368974589 | CFTR | c.3555C>A (p.Tyr1185Ter) c.*3469C>A (n.*3469C>A) c.3572C>A (p.Thr1191Asn) c.3755C>A (p.Thr1252Asn) c.*408C>A (n.*408C>A) c.*416C>A (n.*416C>A) c.*2130C>A (n.*2130C>A) c.3749C>A (p.Thr1250Asn) c.*3579C>A (n.*3579C>A) c.3329C>A (p.Thr1110Asn) c.503C>A (p.Thr168Asn) c.1542C>A (n.1542C>A) c.337C>A c.1205C>A c.3665C>A (p.Thr1222Asn) c.3845C>A (p.Thr1282Asn) c.3512C>A (p.Thr1171Asn) | |
| 7 | g.117642475C= | CA1737404749 | CFTR | c.3555C= (p.Tyr1185=) c.*3469C= (n.*3469C=) c.3572C= (p.Thr1191=) c.3755C= (p.Thr1252=) c.*408C= (n.*408C=) c.*416C= (n.*416C=) c.*2130C= (n.*2130C=) c.3749C= (p.Thr1250=) c.*3579C= (n.*3579C=) c.3329C= (p.Thr1110=) c.503C= (p.Thr168=) c.1542C= (n.1542C=) c.337C= c.1205C= c.3665C= (p.Thr1222=) c.3845C= (p.Thr1282=) c.3512C= (p.Thr1171=) | |
| 7 | g.117642475C>G | CA368974591 | CFTR | c.3555C>G (p.Tyr1185Ter) c.*3469C>G (n.*3469C>G) c.3572C>G (p.Thr1191Ser) c.3755C>G (p.Thr1252Ser) c.*408C>G (n.*408C>G) c.*416C>G (n.*416C>G) c.*2130C>G (n.*2130C>G) c.3749C>G (p.Thr1250Ser) c.*3579C>G (n.*3579C>G) c.3329C>G (p.Thr1110Ser) c.503C>G (p.Thr168Ser) c.1542C>G (n.1542C>G) c.337C>G c.1205C>G c.3665C>G (p.Thr1222Ser) c.3845C>G (p.Thr1282Ser) c.3512C>G (p.Thr1171Ser) | |
| 7 | g.117642475C>T | CA368974595 | CFTR | c.3555C>T (p.Tyr1185=) c.*3469C>T (n.*3469C>T) c.3572C>T (p.Thr1191Ile) c.3755C>T (p.Thr1252Ile) c.*408C>T (n.*408C>T) c.*416C>T (n.*416C>T) c.*2130C>T (n.*2130C>T) c.3749C>T (p.Thr1250Ile) c.*3579C>T (n.*3579C>T) c.3329C>T (p.Thr1110Ile) c.503C>T (p.Thr168Ile) c.1542C>T (n.1542C>T) c.337C>T c.1205C>T c.3665C>T (p.Thr1222Ile) c.3845C>T (p.Thr1282Ile) c.3512C>T (p.Thr1171Ile) | dbSNP |
| 7 | g.117642476T>A | CA457228076 | CFTR | c.3556T>A (p.Phe1186Ile) c.*3470T>A (n.*3470T>A) c.3573T>A (p.Thr1191=) c.3756T>A (p.Thr1252=) c.*409T>A (n.*409T>A) c.*417T>A (n.*417T>A) c.*2131T>A (n.*2131T>A) c.3750T>A (p.Thr1250=) c.*3580T>A (n.*3580T>A) c.3330T>A (p.Thr1110=) c.504T>A (p.Thr168=) c.1543T>A (n.1543T>A) c.338T>A c.1206T>A c.3666T>A (p.Thr1222=) c.3846T>A (p.Thr1282=) c.3513T>A (p.Thr1171=) | |
| 7 | g.117642476T>C | CA457228077 | CFTR | c.3556T>C (p.Phe1186Leu) c.*3470T>C (n.*3470T>C) c.3573T>C (p.Thr1191=) c.3756T>C (p.Thr1252=) c.*409T>C (n.*409T>C) c.*417T>C (n.*417T>C) c.*2131T>C (n.*2131T>C) c.3750T>C (p.Thr1250=) c.*3580T>C (n.*3580T>C) c.3330T>C (p.Thr1110=) c.504T>C (p.Thr168=) c.1543T>C (n.1543T>C) c.338T>C c.1206T>C c.3666T>C (p.Thr1222=) c.3846T>C (p.Thr1282=) c.3513T>C (p.Thr1171=) | ClinVar |
| 7 | g.117642476T>G | CA457228078 | CFTR | c.3556T>G (p.Phe1186Val) c.*3470T>G (n.*3470T>G) c.3573T>G (p.Thr1191=) c.3756T>G (p.Thr1252=) c.*409T>G (n.*409T>G) c.*417T>G (n.*417T>G) c.*2131T>G (n.*2131T>G) c.3750T>G (p.Thr1250=) c.*3580T>G (n.*3580T>G) c.3330T>G (p.Thr1110=) c.504T>G (p.Thr168=) c.1543T>G (n.1543T>G) c.338T>G c.1206T>G c.3666T>G (p.Thr1222=) c.3846T>G (p.Thr1282=) c.3513T>G (p.Thr1171=) | |
| 7 | g.117642477T>A | CA368974599 | CFTR | c.3557T>A (p.Phe1186Tyr) c.*3471T>A (n.*3471T>A) c.3574T>A (p.Leu1192Met) c.3757T>A (p.Leu1253Met) c.*410T>A (n.*410T>A) c.*418T>A (n.*418T>A) c.*2132T>A (n.*2132T>A) c.3751T>A (p.Leu1251Met) c.*3581T>A (n.*3581T>A) c.3331T>A (p.Leu1111Met) c.505T>A (p.Leu169Met) c.1544T>A (n.1544T>A) c.339T>A c.1207T>A c.3667T>A (p.Leu1223Met) c.3847T>A (p.Leu1283Met) c.3514T>A (p.Leu1172Met) | |
| 7 | g.117642477T>C | CA164947526 | CFTR | c.3557T>C (p.Phe1186Ser) c.*3471T>C (n.*3471T>C) c.3574T>C (p.Leu1192=) c.3757T>C (p.Leu1253=) c.*410T>C (n.*410T>C) c.*418T>C (n.*418T>C) c.*2132T>C (n.*2132T>C) c.3751T>C (p.Leu1251=) c.*3581T>C (n.*3581T>C) c.3331T>C (p.Leu1111=) c.505T>C (p.Leu169=) c.1544T>C (n.1544T>C) c.339T>C c.1207T>C c.3667T>C (p.Leu1223=) c.3847T>C (p.Leu1283=) c.3514T>C (p.Leu1172=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117642477T>G | CA368974603 | CFTR | c.3557T>G (p.Phe1186Cys) c.*3471T>G (n.*3471T>G) c.3574T>G (p.Leu1192Val) c.3757T>G (p.Leu1253Val) c.*410T>G (n.*410T>G) c.*418T>G (n.*418T>G) c.*2132T>G (n.*2132T>G) c.3751T>G (p.Leu1251Val) c.*3581T>G (n.*3581T>G) c.3331T>G (p.Leu1111Val) c.505T>G (p.Leu169Val) c.1544T>G (n.1544T>G) c.339T>G c.1207T>G c.3667T>G (p.Leu1223Val) c.3847T>G (p.Leu1283Val) c.3514T>G (p.Leu1172Val) | |
| 7 | g.117642477T= | CA1737404750 | CFTR | c.3557T= (p.Phe1186=) c.*3471T= (n.*3471T=) c.3574T= (p.Leu1192=) c.3757T= (p.Leu1253=) c.*410T= (n.*410T=) c.*418T= (n.*418T=) c.*2132T= (n.*2132T=) c.3751T= (p.Leu1251=) c.*3581T= (n.*3581T=) c.3331T= (p.Leu1111=) c.505T= (p.Leu169=) c.1544T= (n.1544T=) c.339T= c.1207T= c.3667T= (p.Leu1223=) c.3847T= (p.Leu1283=) c.3514T= (p.Leu1172=) | |
| 7 | g.117642478T>A | CA368974614 | CFTR | c.3558T>A (p.Phe1186Leu) c.*3472T>A (n.*3472T>A) c.3575T>A (p.Leu1192Ter) c.3758T>A (p.Leu1253Ter) c.*411T>A (n.*411T>A) c.*419T>A (n.*419T>A) c.*2133T>A (n.*2133T>A) c.3752T>A (p.Leu1251Ter) c.*3582T>A (n.*3582T>A) c.3332T>A (p.Leu1111Ter) c.506T>A (p.Leu169Ter) c.1545T>A (n.1545T>A) c.340T>A c.1208T>A c.3668T>A (p.Leu1223Ter) c.3848T>A (p.Leu1283Ter) c.3515T>A (p.Leu1172Ter) | |
| 7 | g.117642478T>C | CA368974610 | CFTR | c.3558T>C (p.Phe1186=) c.*3472T>C (n.*3472T>C) c.3575T>C (p.Leu1192Ser) c.3758T>C (p.Leu1253Ser) c.*411T>C (n.*411T>C) c.*419T>C (n.*419T>C) c.*2133T>C (n.*2133T>C) c.3752T>C (p.Leu1251Ser) c.*3582T>C (n.*3582T>C) c.3332T>C (p.Leu1111Ser) c.506T>C (p.Leu169Ser) c.1545T>C (n.1545T>C) c.340T>C c.1208T>C c.3668T>C (p.Leu1223Ser) c.3848T>C (p.Leu1283Ser) c.3515T>C (p.Leu1172Ser) | COSMIC |
| 7 | g.117642478T>G | CA368974607 | CFTR | c.3558T>G (p.Phe1186Leu) c.*3472T>G (n.*3472T>G) c.3575T>G (p.Leu1192Trp) c.3758T>G (p.Leu1253Trp) c.*411T>G (n.*411T>G) c.*419T>G (n.*419T>G) c.*2133T>G (n.*2133T>G) c.3752T>G (p.Leu1251Trp) c.*3582T>G (n.*3582T>G) c.3332T>G (p.Leu1111Trp) c.506T>G (p.Leu169Trp) c.1545T>G (n.1545T>G) c.340T>G c.1208T>G c.3668T>G (p.Leu1223Trp) c.3848T>G (p.Leu1283Trp) c.3515T>G (p.Leu1172Trp) | |
| 7 | g.117642479G>A | CA339250 | CFTR | c.3559G>A (p.Val1187Ile) c.*3473G>A (n.*3473G>A) c.3576G>A (p.Leu1192=) c.3759G>A (p.Leu1253=) c.*412G>A (n.*412G>A) c.*420G>A (n.*420G>A) c.*2134G>A (n.*2134G>A) c.3753G>A (p.Leu1251=) c.*3583G>A (n.*3583G>A) c.3333G>A (p.Leu1111=) c.507G>A (p.Leu169=) c.1546G>A (n.1546G>A) c.341G>A c.1209G>A c.3669G>A (p.Leu1223=) c.3849G>A (p.Leu1283=) c.3516G>A (p.Leu1172=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642479G>C | CA327278 | CFTR | c.3559G>C (p.Val1187Leu) c.*3473G>C (n.*3473G>C) c.3576G>C (p.Leu1192Phe) c.3759G>C (p.Leu1253Phe) c.*412G>C (n.*412G>C) c.*420G>C (n.*420G>C) c.*2134G>C (n.*2134G>C) c.3753G>C (p.Leu1251Phe) c.*3583G>C (n.*3583G>C) c.3333G>C (p.Leu1111Phe) c.507G>C (p.Leu169Phe) c.1546G>C (n.1546G>C) c.341G>C c.1209G>C c.3669G>C (p.Leu1223Phe) c.3849G>C (p.Leu1283Phe) c.3516G>C (p.Leu1172Phe) | dbSNP |
| 7 | g.117642479G= | CA1737404751 | CFTR | c.3559G= (p.Val1187=) c.*3473G= (n.*3473G=) c.3576G= (p.Leu1192=) c.3759G= (p.Leu1253=) c.*412G= (n.*412G=) c.*420G= (n.*420G=) c.*2134G= (n.*2134G=) c.3753G= (p.Leu1251=) c.*3583G= (n.*3583G=) c.3333G= (p.Leu1111=) c.507G= (p.Leu169=) c.1546G= (n.1546G=) c.341G= c.1209G= c.3669G= (p.Leu1223=) c.3849G= (p.Leu1283=) c.3516G= (p.Leu1172=) |