| 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.117642488T>A | CA457228086 | CFTR | c.3568T>A (p.Phe1190Ile) c.*3482T>A (n.*3482T>A) c.3585T>A (p.Ala1195=) c.3768T>A (p.Ala1256=) c.*421T>A (n.*421T>A) c.*429T>A (n.*429T>A) c.*2143T>A (n.*2143T>A) c.3762T>A (p.Ala1254=) c.*3592T>A (n.*3592T>A) c.3342T>A (p.Ala1114=) c.516T>A (p.Ala172=) c.1555T>A (n.1555T>A) c.350T>A c.1218T>A c.3678T>A (p.Ala1226=) c.3858T>A (p.Ala1286=) c.3525T>A (p.Ala1175=) | dbSNP gnomAD v4 |
| 7 | g.117642488T>C | CA457228085 | CFTR | c.3568T>C (p.Phe1190Leu) c.*3482T>C (n.*3482T>C) c.3585T>C (p.Ala1195=) c.3768T>C (p.Ala1256=) c.*421T>C (n.*421T>C) c.*429T>C (n.*429T>C) c.*2143T>C (n.*2143T>C) c.3762T>C (p.Ala1254=) c.*3592T>C (n.*3592T>C) c.3342T>C (p.Ala1114=) c.516T>C (p.Ala172=) c.1555T>C (n.1555T>C) c.350T>C c.1218T>C c.3678T>C (p.Ala1226=) c.3858T>C (p.Ala1286=) c.3525T>C (p.Ala1175=) | |
| 7 | g.117642488T>G | CA457228084 | CFTR | c.3568T>G (p.Phe1190Val) c.*3482T>G (n.*3482T>G) c.3585T>G (p.Ala1195=) c.3768T>G (p.Ala1256=) c.*421T>G (n.*421T>G) c.*429T>G (n.*429T>G) c.*2143T>G (n.*2143T>G) c.3762T>G (p.Ala1254=) c.*3592T>G (n.*3592T>G) c.3342T>G (p.Ala1114=) c.516T>G (p.Ala172=) c.1555T>G (n.1555T>G) c.350T>G c.1218T>G c.3678T>G (p.Ala1226=) c.3858T>G (p.Ala1286=) c.3525T>G (p.Ala1175=) | |
| 7 | g.117642493dup | CA327288 | CFTR | c.3573dup (p.Glu1192Ter) c.*3487dup (n.*3487dup) c.3590dup (p.Leu1197PhefsTer7) c.3773dup (p.Leu1258PhefsTer7) c.*426dup (n.*426dup) c.*434dup (n.*434dup) c.*2148dup (n.*2148dup) c.3767dup (p.Leu1256PhefsTer7) c.*3597dup (n.*3597dup) c.3347dup (p.Leu1116PhefsTer7) c.521dup (p.Leu174PhefsTer7) c.1560dup (n.1560dup) c.355dup c.1223dup c.3683dup (p.Leu1228PhefsTer7) c.3863dup (p.Leu1288PhefsTer7) c.3530dup (p.Leu1177PhefsTer7) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117642489T>A | CA368974704 | CFTR | c.3569T>A (p.Phe1190Tyr) c.*3483T>A (n.*3483T>A) c.3586T>A (p.Phe1196Ile) c.3769T>A (p.Phe1257Ile) c.*422T>A (n.*422T>A) c.*430T>A (n.*430T>A) c.*2144T>A (n.*2144T>A) c.3763T>A (p.Phe1255Ile) c.*3593T>A (n.*3593T>A) c.3343T>A (p.Phe1115Ile) c.517T>A (p.Phe173Ile) c.1556T>A (n.1556T>A) c.351T>A c.1219T>A c.3679T>A (p.Phe1227Ile) c.3859T>A (p.Phe1287Ile) c.3526T>A (p.Phe1176Ile) | |
| 7 | g.117642489T>C | CA164947572 | CFTR | c.3569T>C (p.Phe1190Ser) c.*3483T>C (n.*3483T>C) c.3586T>C (p.Phe1196Leu) c.3769T>C (p.Phe1257Leu) c.*422T>C (n.*422T>C) c.*430T>C (n.*430T>C) c.*2144T>C (n.*2144T>C) c.3763T>C (p.Phe1255Leu) c.*3593T>C (n.*3593T>C) c.3343T>C (p.Phe1115Leu) c.517T>C (p.Phe173Leu) c.1556T>C (n.1556T>C) c.351T>C c.1219T>C c.3679T>C (p.Phe1227Leu) c.3859T>C (p.Phe1287Leu) c.3526T>C (p.Phe1176Leu) | dbSNP |
| 7 | g.117642489T>G | CA368974705 | CFTR | c.3569T>G (p.Phe1190Cys) c.*3483T>G (n.*3483T>G) c.3586T>G (p.Phe1196Val) c.3769T>G (p.Phe1257Val) c.*422T>G (n.*422T>G) c.*430T>G (n.*430T>G) c.*2144T>G (n.*2144T>G) c.3763T>G (p.Phe1255Val) c.*3593T>G (n.*3593T>G) c.3343T>G (p.Phe1115Val) c.517T>G (p.Phe173Val) c.1556T>G (n.1556T>G) c.351T>G c.1219T>G c.3679T>G (p.Phe1227Val) c.3859T>G (p.Phe1287Val) c.3526T>G (p.Phe1176Val) | |
| 7 | g.117642489T= | CA1737404759 | CFTR | c.3569T= (p.Phe1190=) c.*3483T= (n.*3483T=) c.3586T= (p.Phe1196=) c.3769T= (p.Phe1257=) c.*422T= (n.*422T=) c.*430T= (n.*430T=) c.*2144T= (n.*2144T=) c.3763T= (p.Phe1255=) c.*3593T= (n.*3593T=) c.3343T= (p.Phe1115=) c.517T= (p.Phe173=) c.1556T= (n.1556T=) c.351T= c.1219T= c.3679T= (p.Phe1227=) c.3859T= (p.Phe1287=) c.3526T= (p.Phe1176=) | |
| 7 | g.117642490T>A | CA368974709 | CFTR | c.3570T>A (p.Phe1190Leu) c.*3484T>A (n.*3484T>A) c.3587T>A (p.Phe1196Tyr) c.3770T>A (p.Phe1257Tyr) c.*423T>A (n.*423T>A) c.*431T>A (n.*431T>A) c.*2145T>A (n.*2145T>A) c.3764T>A (p.Phe1255Tyr) c.*3594T>A (n.*3594T>A) c.3344T>A (p.Phe1115Tyr) c.518T>A (p.Phe173Tyr) c.1557T>A (n.1557T>A) c.352T>A c.1220T>A c.3680T>A (p.Phe1227Tyr) c.3860T>A (p.Phe1287Tyr) c.3527T>A (p.Phe1176Tyr) | |
| 7 | g.117642490T>C | CA368974711 | CFTR | c.3570T>C (p.Phe1190=) c.*3484T>C (n.*3484T>C) c.3587T>C (p.Phe1196Ser) c.3770T>C (p.Phe1257Ser) c.*423T>C (n.*423T>C) c.*431T>C (n.*431T>C) c.*2145T>C (n.*2145T>C) c.3764T>C (p.Phe1255Ser) c.*3594T>C (n.*3594T>C) c.3344T>C (p.Phe1115Ser) c.518T>C (p.Phe173Ser) c.1557T>C (n.1557T>C) c.352T>C c.1220T>C c.3680T>C (p.Phe1227Ser) c.3860T>C (p.Phe1287Ser) c.3527T>C (p.Phe1176Ser) | |
| 7 | g.117642490T>G | CA368974706 | CFTR | c.3570T>G (p.Phe1190Leu) c.*3484T>G (n.*3484T>G) c.3587T>G (p.Phe1196Cys) c.3770T>G (p.Phe1257Cys) c.*423T>G (n.*423T>G) c.*431T>G (n.*431T>G) c.*2145T>G (n.*2145T>G) c.3764T>G (p.Phe1255Cys) c.*3594T>G (n.*3594T>G) c.3344T>G (p.Phe1115Cys) c.518T>G (p.Phe173Cys) c.1557T>G (n.1557T>G) c.352T>G c.1220T>G c.3680T>G (p.Phe1227Cys) c.3860T>G (p.Phe1287Cys) c.3527T>G (p.Phe1176Cys) | gnomAD v4 |
| 7 | g.117642491T>A | CA368974714 | CFTR | c.3571T>A (p.Phe1191Ile) c.*3485T>A (n.*3485T>A) c.3588T>A (p.Phe1196Leu) c.3771T>A (p.Phe1257Leu) c.*424T>A (n.*424T>A) c.*432T>A (n.*432T>A) c.*2146T>A (n.*2146T>A) c.3765T>A (p.Phe1255Leu) c.*3595T>A (n.*3595T>A) c.3345T>A (p.Phe1115Leu) c.519T>A (p.Phe173Leu) c.1558T>A (n.1558T>A) c.353T>A c.1221T>A c.3681T>A (p.Phe1227Leu) c.3861T>A (p.Phe1287Leu) c.3528T>A (p.Phe1176Leu) | |
| 7 | g.117642491T>C | CA457228093 | CFTR | c.3571T>C (p.Phe1191Leu) c.*3485T>C (n.*3485T>C) c.3588T>C (p.Phe1196=) c.3771T>C (p.Phe1257=) c.*424T>C (n.*424T>C) c.*432T>C (n.*432T>C) c.*2146T>C (n.*2146T>C) c.3765T>C (p.Phe1255=) c.*3595T>C (n.*3595T>C) c.3345T>C (p.Phe1115=) c.519T>C (p.Phe173=) c.1558T>C (n.1558T>C) c.353T>C c.1221T>C c.3681T>C (p.Phe1227=) c.3861T>C (p.Phe1287=) c.3528T>C (p.Phe1176=) | |
| 7 | g.117642491T>G | CA327286 | CFTR | c.3571T>G (p.Phe1191Val) c.*3485T>G (n.*3485T>G) c.3588T>G (p.Phe1196Leu) c.3771T>G (p.Phe1257Leu) c.*424T>G (n.*424T>G) c.*432T>G (n.*432T>G) c.*2146T>G (n.*2146T>G) c.3765T>G (p.Phe1255Leu) c.*3595T>G (n.*3595T>G) c.3345T>G (p.Phe1115Leu) c.519T>G (p.Phe173Leu) c.1558T>G (n.1558T>G) c.353T>G c.1221T>G c.3681T>G (p.Phe1227Leu) c.3861T>G (p.Phe1287Leu) c.3528T>G (p.Phe1176Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642491T= | CA1737404760 | CFTR | c.3571T= (p.Phe1191=) c.*3485T= (n.*3485T=) c.3588T= (p.Phe1196=) c.3771T= (p.Phe1257=) c.*424T= (n.*424T=) c.*432T= (n.*432T=) c.*2146T= (n.*2146T=) c.3765T= (p.Phe1255=) c.*3595T= (n.*3595T=) c.3345T= (p.Phe1115=) c.519T= (p.Phe173=) c.1558T= (n.1558T=) c.353T= c.1221T= c.3681T= (p.Phe1227=) c.3861T= (p.Phe1287=) c.3528T= (p.Phe1176=) | |
| 7 | g.117642492T>A | CA368974722 | CFTR | c.3572T>A (p.Phe1191Tyr) c.*3486T>A (n.*3486T>A) c.3589T>A (p.Leu1197Met) c.3772T>A (p.Leu1258Met) c.*425T>A (n.*425T>A) c.*433T>A (n.*433T>A) c.*2147T>A (n.*2147T>A) c.3766T>A (p.Leu1256Met) c.*3596T>A (n.*3596T>A) c.3346T>A (p.Leu1116Met) c.520T>A (p.Leu174Met) c.1559T>A (n.1559T>A) c.354T>A c.1222T>A c.3682T>A (p.Leu1228Met) c.3862T>A (p.Leu1288Met) c.3529T>A (p.Leu1177Met) | |
| 7 | g.117642492T>C | CA164947580 | CFTR | c.3572T>C (p.Phe1191Ser) c.*3486T>C (n.*3486T>C) c.3589T>C (p.Leu1197=) c.3772T>C (p.Leu1258=) c.*425T>C (n.*425T>C) c.*433T>C (n.*433T>C) c.*2147T>C (n.*2147T>C) c.3766T>C (p.Leu1256=) c.*3596T>C (n.*3596T>C) c.3346T>C (p.Leu1116=) c.520T>C (p.Leu174=) c.1559T>C (n.1559T>C) c.354T>C c.1222T>C c.3682T>C (p.Leu1228=) c.3862T>C (p.Leu1288=) c.3529T>C (p.Leu1177=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117642492T>G | CA368974728 | CFTR | c.3572T>G (p.Phe1191Cys) c.*3486T>G (n.*3486T>G) c.3589T>G (p.Leu1197Val) c.3772T>G (p.Leu1258Val) c.*425T>G (n.*425T>G) c.*433T>G (n.*433T>G) c.*2147T>G (n.*2147T>G) c.3766T>G (p.Leu1256Val) c.*3596T>G (n.*3596T>G) c.3346T>G (p.Leu1116Val) c.520T>G (p.Leu174Val) c.1559T>G (n.1559T>G) c.354T>G c.1222T>G c.3682T>G (p.Leu1228Val) c.3862T>G (p.Leu1288Val) c.3529T>G (p.Leu1177Val) | |
| 7 | g.117642492T= | CA1737404761 | CFTR | c.3572T= (p.Phe1191=) c.*3486T= (n.*3486T=) c.3589T= (p.Leu1197=) c.3772T= (p.Leu1258=) c.*425T= (n.*425T=) c.*433T= (n.*433T=) c.*2147T= (n.*2147T=) c.3766T= (p.Leu1256=) c.*3596T= (n.*3596T=) c.3346T= (p.Leu1116=) c.520T= (p.Leu174=) c.1559T= (n.1559T=) c.354T= c.1222T= c.3682T= (p.Leu1228=) c.3862T= (p.Leu1288=) c.3529T= (p.Leu1177=) | |
| 7 | g.117642493T>A | CA368974736 | CFTR | c.3573T>A (p.Phe1191Leu) c.*3487T>A (n.*3487T>A) c.3590T>A (p.Leu1197Ter) c.3773T>A (p.Leu1258Ter) c.*426T>A (n.*426T>A) c.*434T>A (n.*434T>A) c.*2148T>A (n.*2148T>A) c.3767T>A (p.Leu1256Ter) c.*3597T>A (n.*3597T>A) c.3347T>A (p.Leu1116Ter) c.521T>A (p.Leu174Ter) c.1560T>A (n.1560T>A) c.355T>A c.1223T>A c.3683T>A (p.Leu1228Ter) c.3863T>A (p.Leu1288Ter) c.3530T>A (p.Leu1177Ter) | |
| 7 | g.117642493T>C | CA368974734 | CFTR | c.3573T>C (p.Phe1191=) c.*3487T>C (n.*3487T>C) c.3590T>C (p.Leu1197Ser) c.3773T>C (p.Leu1258Ser) c.*426T>C (n.*426T>C) c.*434T>C (n.*434T>C) c.*2148T>C (n.*2148T>C) c.3767T>C (p.Leu1256Ser) c.*3597T>C (n.*3597T>C) c.3347T>C (p.Leu1116Ser) c.521T>C (p.Leu174Ser) c.1560T>C (n.1560T>C) c.355T>C c.1223T>C c.3683T>C (p.Leu1228Ser) c.3863T>C (p.Leu1288Ser) c.3530T>C (p.Leu1177Ser) | |
| 7 | g.117642493T>G | CA368974731 | CFTR | c.3573T>G (p.Phe1191Leu) c.*3487T>G (n.*3487T>G) c.3590T>G (p.Leu1197Trp) c.3773T>G (p.Leu1258Trp) c.*426T>G (n.*426T>G) c.*434T>G (n.*434T>G) c.*2148T>G (n.*2148T>G) c.3767T>G (p.Leu1256Trp) c.*3597T>G (n.*3597T>G) c.3347T>G (p.Leu1116Trp) c.521T>G (p.Leu174Trp) c.1560T>G (n.1560T>G) c.355T>G c.1223T>G c.3683T>G (p.Leu1228Trp) c.3863T>G (p.Leu1288Trp) c.3530T>G (p.Leu1177Trp) | gnomAD v4 |
| 7 | g.117642493T= | CA1737404762 | CFTR | c.3573T= (p.Phe1191=) c.*3487T= (n.*3487T=) c.3590T= (p.Leu1197=) c.3773T= (p.Leu1258=) c.*426T= (n.*426T=) c.*434T= (n.*434T=) c.*2148T= (n.*2148T=) c.3767T= (p.Leu1256=) c.*3597T= (n.*3597T=) c.3347T= (p.Leu1116=) c.521T= (p.Leu174=) c.1560T= (n.1560T=) c.355T= c.1223T= c.3683T= (p.Leu1228=) c.3863T= (p.Leu1288=) c.3530T= (p.Leu1177=) | |
| 7 | g.117642496_117642504del | CA2684620472 | CFTR | c.3576_3584del (p.Thr1193_Glu1195del) c.*3490_*3498del (n.*3490_*3498del) c.3593_3601del (p.Arg1198_Leu1200del) c.3776_3784del (p.Arg1259_Leu1261del) c.*429_*437del (n.*429_*437del) c.*437_*445del (n.*437_*445del) c.*2151_*2159del (n.*2151_*2159del) c.3770_3778del (p.Arg1257_Leu1259del) c.*3600_*3608del (n.*3600_*3608del) c.3350_3358del (p.Arg1117_Leu1119del) c.524_532del (p.Arg175_Leu177del) c.1563_1571del (n.1563_1571del) c.358_366del c.1226_1234del c.3686_3694del (p.Arg1229_Leu1231del) c.3866_3874del (p.Arg1289_Leu1291del) c.3533_3541del (p.Arg1178_Leu1180del) | gnomAD v4 |
| 7 | g.117642493_117642494insA | CA368974739 | CFTR | c.3573_3574insA (p.Glu1192ArgfsTer4) c.*3487_*3488insA (n.*3487_*3488insA) c.3590_3591insA (p.Arg1198GlufsTer6) c.3773_3774insA (p.Arg1259GlufsTer6) c.*426_*427insA (n.*426_*427insA) c.*434_*435insA (n.*434_*435insA) c.*2148_*2149insA (n.*2148_*2149insA) c.3767_3768insA (p.Arg1257GlufsTer6) c.*3597_*3598insA (n.*3597_*3598insA) c.3347_3348insA (p.Arg1117GlufsTer6) c.521_522insA (p.Arg175GlufsTer6) c.1560_1561insA (n.1560_1561insA) c.355_356insA c.1223_1224insA c.3683_3684insA (p.Arg1229GlufsTer6) c.3863_3864insA (p.Arg1289GlufsTer6) c.3530_3531insA (p.Arg1178GlufsTer6) | |
| 7 | g.117642494G>A | CA457228109 | CFTR | c.3574G>A (p.Glu1192Lys) c.*3488G>A (n.*3488G>A) c.3591G>A (p.Leu1197=) c.3774G>A (p.Leu1258=) c.*427G>A (n.*427G>A) c.*435G>A (n.*435G>A) c.*2149G>A (n.*2149G>A) c.3768G>A (p.Leu1256=) c.*3598G>A (n.*3598G>A) c.3348G>A (p.Leu1116=) c.522G>A (p.Leu174=) c.1561G>A (n.1561G>A) c.356G>A c.1224G>A c.3684G>A (p.Leu1228=) c.3864G>A (p.Leu1288=) c.3531G>A (p.Leu1177=) | |
| 7 | g.117642494G>C | CA368974743 | CFTR | c.3574G>C (p.Glu1192Gln) c.*3488G>C (n.*3488G>C) c.3591G>C (p.Leu1197Phe) c.3774G>C (p.Leu1258Phe) c.*427G>C (n.*427G>C) c.*435G>C (n.*435G>C) c.*2149G>C (n.*2149G>C) c.3768G>C (p.Leu1256Phe) c.*3598G>C (n.*3598G>C) c.3348G>C (p.Leu1116Phe) c.522G>C (p.Leu174Phe) c.1561G>C (n.1561G>C) c.356G>C c.1224G>C c.3684G>C (p.Leu1228Phe) c.3864G>C (p.Leu1288Phe) c.3531G>C (p.Leu1177Phe) | |
| 7 | g.117642494G>T | CA368974746 | CFTR | c.3574G>T (p.Glu1192Ter) c.*3488G>T (n.*3488G>T) c.3591G>T (p.Leu1197Phe) c.3774G>T (p.Leu1258Phe) c.*427G>T (n.*427G>T) c.*435G>T (n.*435G>T) c.*2149G>T (n.*2149G>T) c.3768G>T (p.Leu1256Phe) c.*3598G>T (n.*3598G>T) c.3348G>T (p.Leu1116Phe) c.522G>T (p.Leu174Phe) c.1561G>T (n.1561G>T) c.356G>T c.1224G>T c.3684G>T (p.Leu1228Phe) c.3864G>T (p.Leu1288Phe) c.3531G>T (p.Leu1177Phe) | |
| 7 | g.117642494dup | CA327289 | CFTR | c.3574dup (p.Glu1192GlyfsTer4) c.*3488dup (n.*3488dup) c.3591dup (p.Arg1198GlufsTer6) c.3774dup (p.Arg1259GlufsTer6) c.*427dup (n.*427dup) c.*435dup (n.*435dup) c.*2149dup (n.*2149dup) c.3768dup (p.Arg1257GlufsTer6) c.*3598dup (n.*3598dup) c.3348dup (p.Arg1117GlufsTer6) c.522dup (p.Arg175GlufsTer6) c.1561dup (n.1561dup) c.356dup c.1224dup c.3684dup (p.Arg1229GlufsTer6) c.3864dup (p.Arg1289GlufsTer6) c.3531dup (p.Arg1178GlufsTer6) | dbSNP |
| 7 | g.117642495A>C | CA457228113 | CFTR | c.3575A>C (p.Glu1192Ala) c.*3489A>C (n.*3489A>C) c.3592A>C (p.Arg1198=) c.3775A>C (p.Arg1259=) c.*428A>C (n.*428A>C) c.*436A>C (n.*436A>C) c.*2150A>C (n.*2150A>C) c.3769A>C (p.Arg1257=) c.*3599A>C (n.*3599A>C) c.3349A>C (p.Arg1117=) c.523A>C (p.Arg175=) c.1562A>C (n.1562A>C) c.357A>C c.1225A>C c.3685A>C (p.Arg1229=) c.3865A>C (p.Arg1289=) c.3532A>C (p.Arg1178=) | |
| 7 | g.117642495A>G | CA368974749 | CFTR | c.3575A>G (p.Glu1192Gly) c.*3489A>G (n.*3489A>G) c.3592A>G (p.Arg1198Gly) c.3775A>G (p.Arg1259Gly) c.*428A>G (n.*428A>G) c.*436A>G (n.*436A>G) c.*2150A>G (n.*2150A>G) c.3769A>G (p.Arg1257Gly) c.*3599A>G (n.*3599A>G) c.3349A>G (p.Arg1117Gly) c.523A>G (p.Arg175Gly) c.1562A>G (n.1562A>G) c.357A>G c.1225A>G c.3685A>G (p.Arg1229Gly) c.3865A>G (p.Arg1289Gly) c.3532A>G (p.Arg1178Gly) | |
| 7 | g.117642495A>T | CA368974762 | CFTR | c.3575A>T (p.Glu1192Val) c.*3489A>T (n.*3489A>T) c.3592A>T (p.Arg1198Ter) c.3775A>T (p.Arg1259Ter) c.*428A>T (n.*428A>T) c.*436A>T (n.*436A>T) c.*2150A>T (n.*2150A>T) c.3769A>T (p.Arg1257Ter) c.*3599A>T (n.*3599A>T) c.3349A>T (p.Arg1117Ter) c.523A>T (p.Arg175Ter) c.1562A>T (n.1562A>T) c.357A>T c.1225A>T c.3685A>T (p.Arg1229Ter) c.3865A>T (p.Arg1289Ter) c.3532A>T (p.Arg1178Ter) | |
| 7 | g.117642496G>A | CA368974767 | CFTR | c.3576G>A (p.Glu1192=) c.*3490G>A (n.*3490G>A) c.3593G>A (p.Arg1198Lys) c.3776G>A (p.Arg1259Lys) c.*429G>A (n.*429G>A) c.*437G>A (n.*437G>A) c.*2151G>A (n.*2151G>A) c.3770G>A (p.Arg1257Lys) c.*3600G>A (n.*3600G>A) c.3350G>A (p.Arg1117Lys) c.524G>A (p.Arg175Lys) c.1563G>A (n.1563G>A) c.358G>A c.1226G>A c.3686G>A (p.Arg1229Lys) c.3866G>A (p.Arg1289Lys) c.3533G>A (p.Arg1178Lys) | |
| 7 | g.117642496G>C | CA368974774 | CFTR | c.3576G>C (p.Glu1192Asp) c.*3490G>C (n.*3490G>C) c.3593G>C (p.Arg1198Thr) c.3776G>C (p.Arg1259Thr) c.*429G>C (n.*429G>C) c.*437G>C (n.*437G>C) c.*2151G>C (n.*2151G>C) c.3770G>C (p.Arg1257Thr) c.*3600G>C (n.*3600G>C) c.3350G>C (p.Arg1117Thr) c.524G>C (p.Arg175Thr) c.1563G>C (n.1563G>C) c.358G>C c.1226G>C c.3686G>C (p.Arg1229Thr) c.3866G>C (p.Arg1289Thr) c.3533G>C (p.Arg1178Thr) | ClinVar dbSNP gnomAD v2 |
| 7 | g.117642496G= | CA1737404764 | CFTR | c.3576G= (p.Glu1192=) c.*3490G= (n.*3490G=) c.3593G= (p.Arg1198=) c.3776G= (p.Arg1259=) c.*429G= (n.*429G=) c.*437G= (n.*437G=) c.*2151G= (n.*2151G=) c.3770G= (p.Arg1257=) c.*3600G= (n.*3600G=) c.3350G= (p.Arg1117=) c.524G= (p.Arg175=) c.1563G= (n.1563G=) c.358G= c.1226G= c.3686G= (p.Arg1229=) c.3866G= (p.Arg1289=) c.3533G= (p.Arg1178=) | |
| 7 | g.117642496G>T | CA368974771 | CFTR | c.3576G>T (p.Glu1192Asp) c.*3490G>T (n.*3490G>T) c.3593G>T (p.Arg1198Ile) c.3776G>T (p.Arg1259Ile) c.*429G>T (n.*429G>T) c.*437G>T (n.*437G>T) c.*2151G>T (n.*2151G>T) c.3770G>T (p.Arg1257Ile) c.*3600G>T (n.*3600G>T) c.3350G>T (p.Arg1117Ile) c.524G>T (p.Arg175Ile) c.1563G>T (n.1563G>T) c.358G>T c.1226G>T c.3686G>T (p.Arg1229Ile) c.3866G>T (p.Arg1289Ile) c.3533G>T (p.Arg1178Ile) | |
| 7 | g.117642496_117642499delinsGACT | CA1737404763 | CFTR | c.3576_3579delinsGACT (p.Glu1192=) c.*3490_*3493delinsGACT (n.*3490_*3493delinsGACT) c.3593_3596delinsGACT (p.Arg1198=) c.3776_3779delinsGACT (p.Arg1259=) c.*429_*432delinsGACT (n.*429_*432delinsGACT) c.*437_*440delinsGACT (n.*437_*440delinsGACT) c.*2151_*2154delinsGACT (n.*2151_*2154delinsGACT) c.3770_3773delinsGACT (p.Arg1257=) c.*3600_*3603delinsGACT (n.*3600_*3603delinsGACT) c.3350_3353delinsGACT (p.Arg1117=) c.524_527delinsGACT (p.Arg175=) c.1563_1566delinsGACT (n.1563_1566delinsGACT) c.358_361delinsGACT c.1226_1229delinsGACT c.3686_3689delinsGACT (p.Arg1229=) c.3866_3869delinsGACT (p.Arg1289=) c.3533_3536delinsGACT (p.Arg1178=) | |
| 7 | g.117642497A>C | CA368974776 | CFTR | c.3577A>C (p.Thr1193Pro) c.*3491A>C (n.*3491A>C) c.3594A>C (p.Arg1198Ser) c.3777A>C (p.Arg1259Ser) c.*430A>C (n.*430A>C) c.*438A>C (n.*438A>C) c.*2152A>C (n.*2152A>C) c.3771A>C (p.Arg1257Ser) c.*3601A>C (n.*3601A>C) c.3351A>C (p.Arg1117Ser) c.525A>C (p.Arg175Ser) c.1564A>C (n.1564A>C) c.359A>C c.1227A>C c.3687A>C (p.Arg1229Ser) c.3867A>C (p.Arg1289Ser) c.3534A>C (p.Arg1178Ser) | |
| 7 | g.117642497A>G | CA457228121 | CFTR | c.3577A>G (p.Thr1193Ala) c.*3491A>G (n.*3491A>G) c.3594A>G (p.Arg1198=) c.3777A>G (p.Arg1259=) c.*430A>G (n.*430A>G) c.*438A>G (n.*438A>G) c.*2152A>G (n.*2152A>G) c.3771A>G (p.Arg1257=) c.*3601A>G (n.*3601A>G) c.3351A>G (p.Arg1117=) c.525A>G (p.Arg175=) c.1564A>G (n.1564A>G) c.359A>G c.1227A>G c.3687A>G (p.Arg1229=) c.3867A>G (p.Arg1289=) c.3534A>G (p.Arg1178=) | gnomAD v4 |
| 7 | g.117642497A>T | CA368974782 | CFTR | c.3577A>T (p.Thr1193Ser) c.*3491A>T (n.*3491A>T) c.3594A>T (p.Arg1198Ser) c.3777A>T (p.Arg1259Ser) c.*430A>T (n.*430A>T) c.*438A>T (n.*438A>T) c.*2152A>T (n.*2152A>T) c.3771A>T (p.Arg1257Ser) c.*3601A>T (n.*3601A>T) c.3351A>T (p.Arg1117Ser) c.525A>T (p.Arg175Ser) c.1564A>T (n.1564A>T) c.359A>T c.1227A>T c.3687A>T (p.Arg1229Ser) c.3867A>T (p.Arg1289Ser) c.3534A>T (p.Arg1178Ser) | |
| 7 | g.117642500_117642502del | CA327292 | CFTR | c.3580_3582del (p.Thr1194del) c.*3494_*3496del (n.*3494_*3496del) c.3597_3599del (p.Leu1200del) c.3780_3782del (p.Leu1261del) c.*433_*435del (n.*433_*435del) c.*441_*443del (n.*441_*443del) c.*2155_*2157del (n.*2155_*2157del) c.3774_3776del (p.Leu1259del) c.*3604_*3606del (n.*3604_*3606del) c.3354_3356del (p.Leu1119del) c.528_530del (p.Leu177del) c.1567_1569del (n.1567_1569del) c.362_364del c.1230_1232del c.3690_3692del (p.Leu1231del) c.3870_3872del (p.Leu1291del) c.3537_3539del (p.Leu1180del) | dbSNP |
| 7 | g.117642498C>A | CA368974788 | CFTR | c.3578C>A (p.Thr1193Asn) c.*3492C>A (n.*3492C>A) c.3595C>A (p.Leu1199Ile) c.3778C>A (p.Leu1260Ile) c.*431C>A (n.*431C>A) c.*439C>A (n.*439C>A) c.*2153C>A (n.*2153C>A) c.3772C>A (p.Leu1258Ile) c.*3602C>A (n.*3602C>A) c.3352C>A (p.Leu1118Ile) c.526C>A (p.Leu176Ile) c.1565C>A (n.1565C>A) c.360C>A c.1228C>A c.3688C>A (p.Leu1230Ile) c.3868C>A (p.Leu1290Ile) c.3535C>A (p.Leu1179Ile) | |
| 7 | g.117642498C= | CA1737404765 | CFTR | c.3578C= (p.Thr1193=) c.*3492C= (n.*3492C=) c.3595C= (p.Leu1199=) c.3778C= (p.Leu1260=) c.*431C= (n.*431C=) c.*439C= (n.*439C=) c.*2153C= (n.*2153C=) c.3772C= (p.Leu1258=) c.*3602C= (n.*3602C=) c.3352C= (p.Leu1118=) c.526C= (p.Leu176=) c.1565C= (n.1565C=) c.360C= c.1228C= c.3688C= (p.Leu1230=) c.3868C= (p.Leu1290=) c.3535C= (p.Leu1179=) | |
| 7 | g.117642498C>G | CA368974787 | CFTR | c.3578C>G (p.Thr1193Ser) c.*3492C>G (n.*3492C>G) c.3595C>G (p.Leu1199Val) c.3778C>G (p.Leu1260Val) c.*431C>G (n.*431C>G) c.*439C>G (n.*439C>G) c.*2153C>G (n.*2153C>G) c.3772C>G (p.Leu1258Val) c.*3602C>G (n.*3602C>G) c.3352C>G (p.Leu1118Val) c.526C>G (p.Leu176Val) c.1565C>G (n.1565C>G) c.360C>G c.1228C>G c.3688C>G (p.Leu1230Val) c.3868C>G (p.Leu1290Val) c.3535C>G (p.Leu1179Val) | dbSNP |
| 7 | g.117642498C>T | CA457228125 | CFTR | c.3578C>T (p.Thr1193Ile) c.*3492C>T (n.*3492C>T) c.3595C>T (p.Leu1199=) c.3778C>T (p.Leu1260=) c.*431C>T (n.*431C>T) c.*439C>T (n.*439C>T) c.*2153C>T (n.*2153C>T) c.3772C>T (p.Leu1258=) c.*3602C>T (n.*3602C>T) c.3352C>T (p.Leu1118=) c.526C>T (p.Leu176=) c.1565C>T (n.1565C>T) c.360C>T c.1228C>T c.3688C>T (p.Leu1230=) c.3868C>T (p.Leu1290=) c.3535C>T (p.Leu1179=) | |
| 7 | g.117642499T>A | CA368974803 | CFTR | c.3579T>A (p.Thr1193=) c.*3493T>A (n.*3493T>A) c.3596T>A (p.Leu1199Gln) c.3779T>A (p.Leu1260Gln) c.*432T>A (n.*432T>A) c.*440T>A (n.*440T>A) c.*2154T>A (n.*2154T>A) c.3773T>A (p.Leu1258Gln) c.*3603T>A (n.*3603T>A) c.3353T>A (p.Leu1118Gln) c.527T>A (p.Leu176Gln) c.1566T>A (n.1566T>A) c.361T>A c.1229T>A c.3689T>A (p.Leu1230Gln) c.3869T>A (p.Leu1290Gln) c.3536T>A (p.Leu1179Gln) | |
| 7 | g.117642499T>C | CA368974798 | CFTR | c.3579T>C (p.Thr1193=) c.*3493T>C (n.*3493T>C) c.3596T>C (p.Leu1199Pro) c.3779T>C (p.Leu1260Pro) c.*432T>C (n.*432T>C) c.*440T>C (n.*440T>C) c.*2154T>C (n.*2154T>C) c.3773T>C (p.Leu1258Pro) c.*3603T>C (n.*3603T>C) c.3353T>C (p.Leu1118Pro) c.527T>C (p.Leu176Pro) c.1566T>C (n.1566T>C) c.361T>C c.1229T>C c.3689T>C (p.Leu1230Pro) c.3869T>C (p.Leu1290Pro) c.3536T>C (p.Leu1179Pro) | ClinVar |
| 7 | g.117642499T>G | CA368974793 | CFTR | c.3579T>G (p.Thr1193=) c.*3493T>G (n.*3493T>G) c.3596T>G (p.Leu1199Arg) c.3779T>G (p.Leu1260Arg) c.*432T>G (n.*432T>G) c.*440T>G (n.*440T>G) c.*2154T>G (n.*2154T>G) c.3773T>G (p.Leu1258Arg) c.*3603T>G (n.*3603T>G) c.3353T>G (p.Leu1118Arg) c.527T>G (p.Leu176Arg) c.1566T>G (n.1566T>G) c.361T>G c.1229T>G c.3689T>G (p.Leu1230Arg) c.3869T>G (p.Leu1290Arg) c.3536T>G (p.Leu1179Arg) |