| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117642410_117643191delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC | CA1737404713 | CFTR | c.3518-28_*82+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC c.*3432-28_*3587+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC c.3535-28_3690+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC c.3718-28_*86+208delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC c.*371-28_*526+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC c.3718-28_3873+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC c.*379-28_*534+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC c.*2093-28_*2248+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC c.3712-28_3867+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC c.*3542-28_*3697+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC c.3292-28_3447+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC c.466-28_737+208delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC c.1505-28_1660+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC c.300-28_455+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC c.1168-28_1323+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC c.3628-28_3783+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC c.3808-28_3963+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC c.3475-28_3630+598delinsAAGTGATCCCATCACTTTTACCTTATAGGTGGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTACTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAACAGTGGAGGAAAGCCTTTGGAGTGATACCACAGGTGAGCAAAAGGACTTAGCCAGAAAAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATATTTGTTATGCATTGCTGTCTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGAATTCTCAAATTCTGGTTATTGAAATGTTCATAGCTTTGATAGTGTTTTTCAGAAGACCAAATTTACAGTGGGAGCCTTGGGCTTTTGTTTTTTAACAGCTCTTTTTTGTTCCTGCTTCAGTGGCCTGACCTCCAAGTTAGCAATCGCCAGGTTGAGAAATGCTTTGCGAGACATAACAGATGCTCCTGAAATAACAAACACTTGGAATCATGAGGTAGTGGAATTGAAAATAGAAAGTGTAGTGATTGTTTTTTGTTATTTGGATGGGATGAACAATGTCAGATTAGTCTGTAACTATTTTTTTTTAATGTCACTCTGATTTGGTCACAAAGGATCTCTAGTCTCATTGCCTTAGTATCATTCTACGAATTAGAATGTGTTACTGTGTAAGAGCACTTCTTGTATATGAGAGAAATAGCAAC | |
| 7 | g.117642414_117643194del | CA327259 | CFTR | c.3518-24_*82+601del c.*3432-24_*3587+601del c.3535-24_3690+601del c.3718-24_*86+211del c.*371-24_*526+601del c.3718-24_3873+601del c.*379-24_*534+601del c.*2093-24_*2248+601del c.3712-24_3867+601del c.*3542-24_*3697+601del c.3292-24_3447+601del c.466-24_737+211del c.1505-24_1660+601del c.300-24_455+601del c.1168-24_1323+601del c.3628-24_3783+601del c.3808-24_3963+601del c.3475-24_3630+601del | ClinVar dbSNP |
| 7 | g.117642433_117642445del | CA2499218698 | CFTR | c.3518-5_3525del c.*3432-5_*3439del c.3535-5_3542del c.3718-5_3725del c.*371-5_*378del c.*379-5_*386del c.*2093-5_*2100del c.3712-5_3719del c.*3542-5_*3549del c.3292-5_3299del c.466-5_473del c.1505-5_1512del c.300-5_307del c.1168-5_1175del c.3628-5_3635del c.3808-5_3815del c.3475-5_3482del | ClinVar dbSNP |
| 7 | g.117642437G>A | CA325568 | CFTR | c.3518-1G>A (n.3518-1G>A) c.*3432-1G>A (n.*3432-1G>A) c.3535-1G>A (n.3535-1G>A) c.3718-1G>A (n.3718-1G>A) c.*371-1G>A (n.*371-1G>A) c.*379-1G>A (n.*379-1G>A) c.*2093-1G>A (n.*2093-1G>A) c.3712-1G>A (n.3712-1G>A) c.*3542-1G>A (n.*3542-1G>A) c.3292-1G>A (n.3292-1G>A) c.466-1G>A (n.466-1G>A) c.1505-1G>A (n.1505-1G>A) c.300-1G>A c.1168-1G>A c.3628-1G>A (n.3628-1G>A) c.3808-1G>A (n.3808-1G>A) c.3475-1G>A (n.3475-1G>A) | ClinVar dbSNP COSMIC |
| 7 | g.117642437G>C | CA368974395 | CFTR | c.3518-1G>C (n.3518-1G>C) c.*3432-1G>C (n.*3432-1G>C) c.3535-1G>C (n.3535-1G>C) c.3718-1G>C (n.3718-1G>C) c.*371-1G>C (n.*371-1G>C) c.*379-1G>C (n.*379-1G>C) c.*2093-1G>C (n.*2093-1G>C) c.3712-1G>C (n.3712-1G>C) c.*3542-1G>C (n.*3542-1G>C) c.3292-1G>C (n.3292-1G>C) c.466-1G>C (n.466-1G>C) c.1505-1G>C (n.1505-1G>C) c.300-1G>C c.1168-1G>C c.3628-1G>C (n.3628-1G>C) c.3808-1G>C (n.3808-1G>C) c.3475-1G>C (n.3475-1G>C) | ClinVar |
| 7 | g.117642437G= | CA1737404723 | CFTR | c.3518-1G= (n.3518-1G=) c.*3432-1G= (n.*3432-1G=) c.3535-1G= (n.3535-1G=) c.3718-1G= (n.3718-1G=) c.*371-1G= (n.*371-1G=) c.*379-1G= (n.*379-1G=) c.*2093-1G= (n.*2093-1G=) c.3712-1G= (n.3712-1G=) c.*3542-1G= (n.*3542-1G=) c.3292-1G= (n.3292-1G=) c.466-1G= (n.466-1G=) c.1505-1G= (n.1505-1G=) c.300-1G= c.1168-1G= c.3628-1G= (n.3628-1G=) c.3808-1G= (n.3808-1G=) c.3475-1G= (n.3475-1G=) | |
| 7 | g.117642437G>T | CA368974396 | CFTR | c.3518-1G>T (n.3518-1G>T) c.*3432-1G>T (n.*3432-1G>T) c.3535-1G>T (n.3535-1G>T) c.3718-1G>T (n.3718-1G>T) c.*371-1G>T (n.*371-1G>T) c.*379-1G>T (n.*379-1G>T) c.*2093-1G>T (n.*2093-1G>T) c.3712-1G>T (n.3712-1G>T) c.*3542-1G>T (n.*3542-1G>T) c.3292-1G>T (n.3292-1G>T) c.466-1G>T (n.466-1G>T) c.1505-1G>T (n.1505-1G>T) c.300-1G>T c.1168-1G>T c.3628-1G>T (n.3628-1G>T) c.3808-1G>T (n.3808-1G>T) c.3475-1G>T (n.3475-1G>T) | gnomAD v4 |
| 7 | g.117642438G>A | CA368974398 | CFTR | c.3518G>A (p.Gly1173Asp) c.*3432G>A (n.*3432G>A) c.3535G>A (p.Val1179Met) c.3718G>A (p.Val1240Met) c.*371G>A (n.*371G>A) c.*379G>A (n.*379G>A) c.*2093G>A (n.*2093G>A) c.3712G>A (p.Val1238Met) c.*3542G>A (n.*3542G>A) c.3292G>A (p.Val1098Met) c.466G>A (p.Val156Met) c.1505G>A (n.1505G>A) c.300G>A c.1168G>A c.3628G>A (p.Val1210Met) c.3808G>A (p.Val1270Met) c.3475G>A (p.Val1159Met) | |
| 7 | g.117642438G>C | CA368974399 | CFTR | c.3518G>C (p.Gly1173Ala) c.*3432G>C (n.*3432G>C) c.3535G>C (p.Val1179Leu) c.3718G>C (p.Val1240Leu) c.*371G>C (n.*371G>C) c.*379G>C (n.*379G>C) c.*2093G>C (n.*2093G>C) c.3712G>C (p.Val1238Leu) c.*3542G>C (n.*3542G>C) c.3292G>C (p.Val1098Leu) c.466G>C (p.Val156Leu) c.1505G>C (n.1505G>C) c.300G>C c.1168G>C c.3628G>C (p.Val1210Leu) c.3808G>C (p.Val1270Leu) c.3475G>C (p.Val1159Leu) | |
| 7 | g.117642438G= | CA1737404724 | CFTR | c.3518G= (p.Gly1173=) c.*3432G= (n.*3432G=) c.3535G= (p.Val1179=) c.3718G= (p.Val1240=) c.*371G= (n.*371G=) c.*379G= (n.*379G=) c.*2093G= (n.*2093G=) c.3712G= (p.Val1238=) c.*3542G= (n.*3542G=) c.3292G= (p.Val1098=) c.466G= (p.Val156=) c.1505G= (n.1505G=) c.300G= c.1168G= c.3628G= (p.Val1210=) c.3808G= (p.Val1270=) c.3475G= (p.Val1159=) | |
| 7 | g.117642438G>T | CA368974400 | CFTR | c.3518G>T (p.Gly1173Val) c.*3432G>T (n.*3432G>T) c.3535G>T (p.Val1179Leu) c.3718G>T (p.Val1240Leu) c.*371G>T (n.*371G>T) c.*379G>T (n.*379G>T) c.*2093G>T (n.*2093G>T) c.3712G>T (p.Val1238Leu) c.*3542G>T (n.*3542G>T) c.3292G>T (p.Val1098Leu) c.466G>T (p.Val156Leu) c.1505G>T (n.1505G>T) c.300G>T c.1168G>T c.3628G>T (p.Val1210Leu) c.3808G>T (p.Val1270Leu) c.3475G>T (p.Val1159Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117642439T>A | CA368974403 | CFTR | c.3519T>A (p.Gly1173=) c.*3433T>A (n.*3433T>A) c.3536T>A (p.Val1179Glu) c.3719T>A (p.Val1240Glu) c.*372T>A (n.*372T>A) c.*380T>A (n.*380T>A) c.*2094T>A (n.*2094T>A) c.3713T>A (p.Val1238Glu) c.*3543T>A (n.*3543T>A) c.3293T>A (p.Val1098Glu) c.467T>A (p.Val156Glu) c.1506T>A (n.1506T>A) c.301T>A c.1169T>A c.3629T>A (p.Val1210Glu) c.3809T>A (p.Val1270Glu) c.3476T>A (p.Val1159Glu) | |
| 7 | g.117642439T>C | CA368974405 | CFTR | c.3519T>C (p.Gly1173=) c.*3433T>C (n.*3433T>C) c.3536T>C (p.Val1179Ala) c.3719T>C (p.Val1240Ala) c.*372T>C (n.*372T>C) c.*380T>C (n.*380T>C) c.*2094T>C (n.*2094T>C) c.3713T>C (p.Val1238Ala) c.*3543T>C (n.*3543T>C) c.3293T>C (p.Val1098Ala) c.467T>C (p.Val156Ala) c.1506T>C (n.1506T>C) c.301T>C c.1169T>C c.3629T>C (p.Val1210Ala) c.3809T>C (p.Val1270Ala) c.3476T>C (p.Val1159Ala) | |
| 7 | g.117642439T>G | CA327262 | CFTR | c.3519T>G (p.Gly1173=) c.*3433T>G (n.*3433T>G) c.3536T>G (p.Val1179Gly) c.3719T>G (p.Val1240Gly) c.*372T>G (n.*372T>G) c.*380T>G (n.*380T>G) c.*2094T>G (n.*2094T>G) c.3713T>G (p.Val1238Gly) c.*3543T>G (n.*3543T>G) c.3293T>G (p.Val1098Gly) c.467T>G (p.Val156Gly) c.1506T>G (n.1506T>G) c.301T>G c.1169T>G c.3629T>G (p.Val1210Gly) c.3809T>G (p.Val1270Gly) c.3476T>G (p.Val1159Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117642439T= | CA1737404725 | CFTR | c.3519T= (p.Gly1173=) c.*3433T= (n.*3433T=) c.3536T= (p.Val1179=) c.3719T= (p.Val1240=) c.*372T= (n.*372T=) c.*380T= (n.*380T=) c.*2094T= (n.*2094T=) c.3713T= (p.Val1238=) c.*3543T= (n.*3543T=) c.3293T= (p.Val1098=) c.467T= (p.Val156=) c.1506T= (n.1506T=) c.301T= c.1169T= c.3629T= (p.Val1210=) c.3809T= (p.Val1270=) c.3476T= (p.Val1159=) | |
| 7 | g.117642440G>A | CA457228053 | CFTR | c.3520G>A (p.Gly1174Arg) c.*3434G>A (n.*3434G>A) c.3537G>A (p.Val1179=) c.3720G>A (p.Val1240=) c.*373G>A (n.*373G>A) c.*381G>A (n.*381G>A) c.*2095G>A (n.*2095G>A) c.3714G>A (p.Val1238=) c.*3544G>A (n.*3544G>A) c.3294G>A (p.Val1098=) c.468G>A (p.Val156=) c.1507G>A (n.1507G>A) c.302G>A c.1170G>A c.3630G>A (p.Val1210=) c.3810G>A (p.Val1270=) c.3477G>A (p.Val1159=) | |
| 7 | g.117642440G>C | CA457228054 | CFTR | c.3520G>C (p.Gly1174Arg) c.*3434G>C (n.*3434G>C) c.3537G>C (p.Val1179=) c.3720G>C (p.Val1240=) c.*373G>C (n.*373G>C) c.*381G>C (n.*381G>C) c.*2095G>C (n.*2095G>C) c.3714G>C (p.Val1238=) c.*3544G>C (n.*3544G>C) c.3294G>C (p.Val1098=) c.468G>C (p.Val156=) c.1507G>C (n.1507G>C) c.302G>C c.1170G>C c.3630G>C (p.Val1210=) c.3810G>C (p.Val1270=) c.3477G>C (p.Val1159=) | |
| 7 | g.117642440G>T | CA457228055 | CFTR | c.3520G>T (p.Gly1174Trp) c.*3434G>T (n.*3434G>T) c.3537G>T (p.Val1179=) c.3720G>T (p.Val1240=) c.*373G>T (n.*373G>T) c.*381G>T (n.*381G>T) c.*2095G>T (n.*2095G>T) c.3714G>T (p.Val1238=) c.*3544G>T (n.*3544G>T) c.3294G>T (p.Val1098=) c.468G>T (p.Val156=) c.1507G>T (n.1507G>T) c.302G>T c.1170G>T c.3630G>T (p.Val1210=) c.3810G>T (p.Val1270=) c.3477G>T (p.Val1159=) | |
| 7 | g.117642441G>A | CA368974409 | CFTR | c.3521G>A (p.Gly1174Glu) c.*3435G>A (n.*3435G>A) c.3538G>A (p.Gly1180Ser) c.3721G>A (p.Gly1241Ser) c.*374G>A (n.*374G>A) c.*382G>A (n.*382G>A) c.*2096G>A (n.*2096G>A) c.3715G>A (p.Gly1239Ser) c.*3545G>A (n.*3545G>A) c.3295G>A (p.Gly1099Ser) c.469G>A (p.Gly157Ser) c.1508G>A (n.1508G>A) c.303G>A c.1171G>A c.3631G>A (p.Gly1211Ser) c.3811G>A (p.Gly1271Ser) c.3478G>A (p.Gly1160Ser) | ClinVar |
| 7 | g.117642441G>C | CA368974411 | CFTR | c.3521G>C (p.Gly1174Ala) c.*3435G>C (n.*3435G>C) c.3538G>C (p.Gly1180Arg) c.3721G>C (p.Gly1241Arg) c.*374G>C (n.*374G>C) c.*382G>C (n.*382G>C) c.*2096G>C (n.*2096G>C) c.3715G>C (p.Gly1239Arg) c.*3545G>C (n.*3545G>C) c.3295G>C (p.Gly1099Arg) c.469G>C (p.Gly157Arg) c.1508G>C (n.1508G>C) c.303G>C c.1171G>C c.3631G>C (p.Gly1211Arg) c.3811G>C (p.Gly1271Arg) c.3478G>C (p.Gly1160Arg) | |
| 7 | g.117642441G>T | CA368974414 | CFTR | c.3521G>T (p.Gly1174Val) c.*3435G>T (n.*3435G>T) c.3538G>T (p.Gly1180Cys) c.3721G>T (p.Gly1241Cys) c.*374G>T (n.*374G>T) c.*382G>T (n.*382G>T) c.*2096G>T (n.*2096G>T) c.3715G>T (p.Gly1239Cys) c.*3545G>T (n.*3545G>T) c.3295G>T (p.Gly1099Cys) c.469G>T (p.Gly157Cys) c.1508G>T (n.1508G>T) c.303G>T c.1171G>T c.3631G>T (p.Gly1211Cys) c.3811G>T (p.Gly1271Cys) c.3478G>T (p.Gly1160Cys) | |
| 7 | g.117642442G>A | CA368974417 | CFTR | c.3522G>A (p.Gly1174=) c.*3436G>A (n.*3436G>A) c.3539G>A (p.Gly1180Asp) c.3722G>A (p.Gly1241Asp) c.*375G>A (n.*375G>A) c.*383G>A (n.*383G>A) c.*2097G>A (n.*2097G>A) c.3716G>A (p.Gly1239Asp) c.*3546G>A (n.*3546G>A) c.3296G>A (p.Gly1099Asp) c.470G>A (p.Gly157Asp) c.1509G>A (n.1509G>A) c.304G>A c.1172G>A c.3632G>A (p.Gly1211Asp) c.3812G>A (p.Gly1271Asp) c.3479G>A (p.Gly1160Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642442G>C | CA368974418 | CFTR | c.3522G>C (p.Gly1174=) c.*3436G>C (n.*3436G>C) c.3539G>C (p.Gly1180Ala) c.3722G>C (p.Gly1241Ala) c.*375G>C (n.*375G>C) c.*383G>C (n.*383G>C) c.*2097G>C (n.*2097G>C) c.3716G>C (p.Gly1239Ala) c.*3546G>C (n.*3546G>C) c.3296G>C (p.Gly1099Ala) c.470G>C (p.Gly157Ala) c.1509G>C (n.1509G>C) c.304G>C c.1172G>C c.3632G>C (p.Gly1211Ala) c.3812G>C (p.Gly1271Ala) c.3479G>C (p.Gly1160Ala) | |
| 7 | g.117642442G= | CA1737404726 | CFTR | c.3522G= (p.Gly1174=) c.*3436G= (n.*3436G=) c.3539G= (p.Gly1180=) c.3722G= (p.Gly1241=) c.*375G= (n.*375G=) c.*383G= (n.*383G=) c.*2097G= (n.*2097G=) c.3716G= (p.Gly1239=) c.*3546G= (n.*3546G=) c.3296G= (p.Gly1099=) c.470G= (p.Gly157=) c.1509G= (n.1509G=) c.304G= c.1172G= c.3632G= (p.Gly1211=) c.3812G= (p.Gly1271=) c.3479G= (p.Gly1160=) | |
| 7 | g.117642442G>T | CA368974420 | CFTR | c.3522G>T (p.Gly1174=) c.*3436G>T (n.*3436G>T) c.3539G>T (p.Gly1180Val) c.3722G>T (p.Gly1241Val) c.*375G>T (n.*375G>T) c.*383G>T (n.*383G>T) c.*2097G>T (n.*2097G>T) c.3716G>T (p.Gly1239Val) c.*3546G>T (n.*3546G>T) c.3296G>T (p.Gly1099Val) c.470G>T (p.Gly157Val) c.1509G>T (n.1509G>T) c.304G>T c.1172G>T c.3632G>T (p.Gly1211Val) c.3812G>T (p.Gly1271Val) c.3479G>T (p.Gly1160Val) | |
| 7 | g.117642443C>A | CA4451540 | CFTR | c.3523C>A (p.Pro1175Thr) c.*3437C>A (n.*3437C>A) c.3540C>A (p.Gly1180=) c.3723C>A (p.Gly1241=) c.*376C>A (n.*376C>A) c.*384C>A (n.*384C>A) c.*2098C>A (n.*2098C>A) c.3717C>A (p.Gly1239=) c.*3547C>A (n.*3547C>A) c.3297C>A (p.Gly1099=) c.471C>A (p.Gly157=) c.1510C>A (n.1510C>A) c.305C>A c.1173C>A c.3633C>A (p.Gly1211=) c.3813C>A (p.Gly1271=) c.3480C>A (p.Gly1160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642443C= | CA1737404727 | CFTR | c.3523C= (p.Pro1175=) c.*3437C= (n.*3437C=) c.3540C= (p.Gly1180=) c.3723C= (p.Gly1241=) c.*376C= (n.*376C=) c.*384C= (n.*384C=) c.*2098C= (n.*2098C=) c.3717C= (p.Gly1239=) c.*3547C= (n.*3547C=) c.3297C= (p.Gly1099=) c.471C= (p.Gly157=) c.1510C= (n.1510C=) c.305C= c.1173C= c.3633C= (p.Gly1211=) c.3813C= (p.Gly1271=) c.3480C= (p.Gly1160=) | |
| 7 | g.117642443C>G | CA457228056 | CFTR | c.3523C>G (p.Pro1175Ala) c.*3437C>G (n.*3437C>G) c.3540C>G (p.Gly1180=) c.3723C>G (p.Gly1241=) c.*376C>G (n.*376C>G) c.*384C>G (n.*384C>G) c.*2098C>G (n.*2098C>G) c.3717C>G (p.Gly1239=) c.*3547C>G (n.*3547C>G) c.3297C>G (p.Gly1099=) c.471C>G (p.Gly157=) c.1510C>G (n.1510C>G) c.305C>G c.1173C>G c.3633C>G (p.Gly1211=) c.3813C>G (p.Gly1271=) c.3480C>G (p.Gly1160=) | |
| 7 | g.117642443C>T | CA164947466 | CFTR | c.3523C>T (p.Pro1175Ser) c.*3437C>T (n.*3437C>T) c.3540C>T (p.Gly1180=) c.3723C>T (p.Gly1241=) c.*376C>T (n.*376C>T) c.*384C>T (n.*384C>T) c.*2098C>T (n.*2098C>T) c.3717C>T (p.Gly1239=) c.*3547C>T (n.*3547C>T) c.3297C>T (p.Gly1099=) c.471C>T (p.Gly157=) c.1510C>T (n.1510C>T) c.305C>T c.1173C>T c.3633C>T (p.Gly1211=) c.3813C>T (p.Gly1271=) c.3480C>T (p.Gly1160=) | dbSNP |
| 7 | g.117642444C>A | CA368974425 | CFTR | c.3524C>A (p.Pro1175His) c.*3438C>A (n.*3438C>A) c.3541C>A (p.Leu1181Ile) c.3724C>A (p.Leu1242Ile) c.*377C>A (n.*377C>A) c.*385C>A (n.*385C>A) c.*2099C>A (n.*2099C>A) c.3718C>A (p.Leu1240Ile) c.*3548C>A (n.*3548C>A) c.3298C>A (p.Leu1100Ile) c.472C>A (p.Leu158Ile) c.1511C>A (n.1511C>A) c.306C>A c.1174C>A c.3634C>A (p.Leu1212Ile) c.3814C>A (p.Leu1272Ile) c.3481C>A (p.Leu1161Ile) | |
| 7 | g.117642444C= | CA1737404728 | CFTR | c.3524C= (p.Pro1175=) c.*3438C= (n.*3438C=) c.3541C= (p.Leu1181=) c.3724C= (p.Leu1242=) c.*377C= (n.*377C=) c.*385C= (n.*385C=) c.*2099C= (n.*2099C=) c.3718C= (p.Leu1240=) c.*3548C= (n.*3548C=) c.3298C= (p.Leu1100=) c.472C= (p.Leu158=) c.1511C= (n.1511C=) c.306C= c.1174C= c.3634C= (p.Leu1212=) c.3814C= (p.Leu1272=) c.3481C= (p.Leu1161=) | |
| 7 | g.117642444C>G | CA368974427 | CFTR | c.3524C>G (p.Pro1175Arg) c.*3438C>G (n.*3438C>G) c.3541C>G (p.Leu1181Val) c.3724C>G (p.Leu1242Val) c.*377C>G (n.*377C>G) c.*385C>G (n.*385C>G) c.*2099C>G (n.*2099C>G) c.3718C>G (p.Leu1240Val) c.*3548C>G (n.*3548C>G) c.3298C>G (p.Leu1100Val) c.472C>G (p.Leu158Val) c.1511C>G (n.1511C>G) c.306C>G c.1174C>G c.3634C>G (p.Leu1212Val) c.3814C>G (p.Leu1272Val) c.3481C>G (p.Leu1161Val) | |
| 7 | g.117642444C>T | CA368974429 | CFTR | c.3524C>T (p.Pro1175Leu) c.*3438C>T (n.*3438C>T) c.3541C>T (p.Leu1181Phe) c.3724C>T (p.Leu1242Phe) c.*377C>T (n.*377C>T) c.*385C>T (n.*385C>T) c.*2099C>T (n.*2099C>T) c.3718C>T (p.Leu1240Phe) c.*3548C>T (n.*3548C>T) c.3298C>T (p.Leu1100Phe) c.472C>T (p.Leu158Phe) c.1511C>T (n.1511C>T) c.306C>T c.1174C>T c.3634C>T (p.Leu1212Phe) c.3814C>T (p.Leu1272Phe) c.3481C>T (p.Leu1161Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117642445del | CA2573141565 | CFTR | c.3525del (p.Lys1178ArgfsTer?) c.*3439del (n.*3439del) c.3542del (p.Leu1181ProfsTer17) c.3725del (p.Leu1242ProfsTer17) c.*378del (n.*378del) c.*386del (n.*386del) c.*2100del (n.*2100del) c.3719del (p.Leu1240ProfsTer17) c.*3549del (n.*3549del) c.3299del (p.Leu1100ProfsTer17) c.473del (p.Leu158ProfsTer17) c.1512del (n.1512del) c.307del c.1175del c.3635del (p.Leu1212ProfsTer17) c.3815del (p.Leu1272ProfsTer17) c.3482del (p.Leu1161ProfsTer17) | ClinVar dbSNP |
| 7 | g.117642445T>A | CA368974433 | CFTR | c.3525T>A (p.Pro1175=) c.*3439T>A (n.*3439T>A) c.3542T>A (p.Leu1181His) c.3725T>A (p.Leu1242His) c.*378T>A (n.*378T>A) c.*386T>A (n.*386T>A) c.*2100T>A (n.*2100T>A) c.3719T>A (p.Leu1240His) c.*3549T>A (n.*3549T>A) c.3299T>A (p.Leu1100His) c.473T>A (p.Leu158His) c.1512T>A (n.1512T>A) c.307T>A c.1175T>A c.3635T>A (p.Leu1212His) c.3815T>A (p.Leu1272His) c.3482T>A (p.Leu1161His) | ClinVar |
| 7 | g.117642445T>C | CA368974436 | CFTR | c.3525T>C (p.Pro1175=) c.*3439T>C (n.*3439T>C) c.3542T>C (p.Leu1181Pro) c.3725T>C (p.Leu1242Pro) c.*378T>C (n.*378T>C) c.*386T>C (n.*386T>C) c.*2100T>C (n.*2100T>C) c.3719T>C (p.Leu1240Pro) c.*3549T>C (n.*3549T>C) c.3299T>C (p.Leu1100Pro) c.473T>C (p.Leu158Pro) c.1512T>C (n.1512T>C) c.307T>C c.1175T>C c.3635T>C (p.Leu1212Pro) c.3815T>C (p.Leu1272Pro) c.3482T>C (p.Leu1161Pro) | |
| 7 | g.117642445T>G | CA368974432 | CFTR | c.3525T>G (p.Pro1175=) c.*3439T>G (n.*3439T>G) c.3542T>G (p.Leu1181Arg) c.3725T>G (p.Leu1242Arg) c.*378T>G (n.*378T>G) c.*386T>G (n.*386T>G) c.*2100T>G (n.*2100T>G) c.3719T>G (p.Leu1240Arg) c.*3549T>G (n.*3549T>G) c.3299T>G (p.Leu1100Arg) c.473T>G (p.Leu158Arg) c.1512T>G (n.1512T>G) c.307T>G c.1175T>G c.3635T>G (p.Leu1212Arg) c.3815T>G (p.Leu1272Arg) c.3482T>G (p.Leu1161Arg) | |
| 7 | g.117642446C>A | CA457228058 | CFTR | c.3526C>A (p.Leu1176Ile) c.*3440C>A (n.*3440C>A) c.3543C>A (p.Leu1181=) c.3726C>A (p.Leu1242=) c.*379C>A (n.*379C>A) c.*387C>A (n.*387C>A) c.*2101C>A (n.*2101C>A) c.3720C>A (p.Leu1240=) c.*3550C>A (n.*3550C>A) c.3300C>A (p.Leu1100=) c.474C>A (p.Leu158=) c.1513C>A (n.1513C>A) c.308C>A c.1176C>A c.3636C>A (p.Leu1212=) c.3816C>A (p.Leu1272=) c.3483C>A (p.Leu1161=) | |
| 7 | g.117642446C= | CA1737404729 | CFTR | c.3526C= (p.Leu1176=) c.*3440C= (n.*3440C=) c.3543C= (p.Leu1181=) c.3726C= (p.Leu1242=) c.*379C= (n.*379C=) c.*387C= (n.*387C=) c.*2101C= (n.*2101C=) c.3720C= (p.Leu1240=) c.*3550C= (n.*3550C=) c.3300C= (p.Leu1100=) c.474C= (p.Leu158=) c.1513C= (n.1513C=) c.308C= c.1176C= c.3636C= (p.Leu1212=) c.3816C= (p.Leu1272=) c.3483C= (p.Leu1161=) | |
| 7 | g.117642446C>G | CA457228057 | CFTR | c.3526C>G (p.Leu1176Val) c.*3440C>G (n.*3440C>G) c.3543C>G (p.Leu1181=) c.3726C>G (p.Leu1242=) c.*379C>G (n.*379C>G) c.*387C>G (n.*387C>G) c.*2101C>G (n.*2101C>G) c.3720C>G (p.Leu1240=) c.*3550C>G (n.*3550C>G) c.3300C>G (p.Leu1100=) c.474C>G (p.Leu158=) c.1513C>G (n.1513C>G) c.308C>G c.1176C>G c.3636C>G (p.Leu1212=) c.3816C>G (p.Leu1272=) c.3483C>G (p.Leu1161=) | ClinVar dbSNP |
| 7 | g.117642446C>T | CA4451541 | CFTR | c.3526C>T (p.Leu1176Phe) c.*3440C>T (n.*3440C>T) c.3543C>T (p.Leu1181=) c.3726C>T (p.Leu1242=) c.*379C>T (n.*379C>T) c.*387C>T (n.*387C>T) c.*2101C>T (n.*2101C>T) c.3720C>T (p.Leu1240=) c.*3550C>T (n.*3550C>T) c.3300C>T (p.Leu1100=) c.474C>T (p.Leu158=) c.1513C>T (n.1513C>T) c.308C>T c.1176C>T c.3636C>T (p.Leu1212=) c.3816C>T (p.Leu1272=) c.3483C>T (p.Leu1161=) | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.117642447T>A | CA368974440 | CFTR | c.3527T>A (p.Leu1176His) c.*3441T>A (n.*3441T>A) c.3544T>A (p.Leu1182Met) c.3727T>A (p.Leu1243Met) c.*380T>A (n.*380T>A) c.*388T>A (n.*388T>A) c.*2102T>A (n.*2102T>A) c.3721T>A (p.Leu1241Met) c.*3551T>A (n.*3551T>A) c.3301T>A (p.Leu1101Met) c.475T>A (p.Leu159Met) c.1514T>A (n.1514T>A) c.309T>A c.1177T>A c.3637T>A (p.Leu1213Met) c.3817T>A (p.Leu1273Met) c.3484T>A (p.Leu1162Met) | |
| 7 | g.117642447T>C | CA457228059 | CFTR | c.3527T>C (p.Leu1176Pro) c.*3441T>C (n.*3441T>C) c.3544T>C (p.Leu1182=) c.3727T>C (p.Leu1243=) c.*380T>C (n.*380T>C) c.*388T>C (n.*388T>C) c.*2102T>C (n.*2102T>C) c.3721T>C (p.Leu1241=) c.*3551T>C (n.*3551T>C) c.3301T>C (p.Leu1101=) c.475T>C (p.Leu159=) c.1514T>C (n.1514T>C) c.309T>C c.1177T>C c.3637T>C (p.Leu1213=) c.3817T>C (p.Leu1273=) c.3484T>C (p.Leu1162=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117642447T>G | CA368974442 | CFTR | c.3527T>G (p.Leu1176Arg) c.*3441T>G (n.*3441T>G) c.3544T>G (p.Leu1182Val) c.3727T>G (p.Leu1243Val) c.*380T>G (n.*380T>G) c.*388T>G (n.*388T>G) c.*2102T>G (n.*2102T>G) c.3721T>G (p.Leu1241Val) c.*3551T>G (n.*3551T>G) c.3301T>G (p.Leu1101Val) c.475T>G (p.Leu159Val) c.1514T>G (n.1514T>G) c.309T>G c.1177T>G c.3637T>G (p.Leu1213Val) c.3817T>G (p.Leu1273Val) c.3484T>G (p.Leu1162Val) | dbSNP |
| 7 | g.117642447T= | CA1737404730 | CFTR | c.3527T= (p.Leu1176=) c.*3441T= (n.*3441T=) c.3544T= (p.Leu1182=) c.3727T= (p.Leu1243=) c.*380T= (n.*380T=) c.*388T= (n.*388T=) c.*2102T= (n.*2102T=) c.3721T= (p.Leu1241=) c.*3551T= (n.*3551T=) c.3301T= (p.Leu1101=) c.475T= (p.Leu159=) c.1514T= (n.1514T=) c.309T= c.1177T= c.3637T= (p.Leu1213=) c.3817T= (p.Leu1273=) c.3484T= (p.Leu1162=) | |
| 7 | g.117642448T>A | CA368974444 | CFTR | c.3528T>A (p.Leu1176=) c.*3442T>A (n.*3442T>A) c.3545T>A (p.Leu1182Ter) c.3728T>A (p.Leu1243Ter) c.*381T>A (n.*381T>A) c.*389T>A (n.*389T>A) c.*2103T>A (n.*2103T>A) c.3722T>A (p.Leu1241Ter) c.*3552T>A (n.*3552T>A) c.3302T>A (p.Leu1101Ter) c.476T>A (p.Leu159Ter) c.1515T>A (n.1515T>A) c.310T>A c.1178T>A c.3638T>A (p.Leu1213Ter) c.3818T>A (p.Leu1273Ter) c.3485T>A (p.Leu1162Ter) | ClinVar dbSNP |
| 7 | g.117642448T>C | CA368974446 | CFTR | c.3528T>C (p.Leu1176=) c.*3442T>C (n.*3442T>C) c.3545T>C (p.Leu1182Ser) c.3728T>C (p.Leu1243Ser) c.*381T>C (n.*381T>C) c.*389T>C (n.*389T>C) c.*2103T>C (n.*2103T>C) c.3722T>C (p.Leu1241Ser) c.*3552T>C (n.*3552T>C) c.3302T>C (p.Leu1101Ser) c.476T>C (p.Leu159Ser) c.1515T>C (n.1515T>C) c.310T>C c.1178T>C c.3638T>C (p.Leu1213Ser) c.3818T>C (p.Leu1273Ser) c.3485T>C (p.Leu1162Ser) | |
| 7 | g.117642448T>G | CA368974448 | CFTR | c.3528T>G (p.Leu1176=) c.*3442T>G (n.*3442T>G) c.3545T>G (p.Leu1182Trp) c.3728T>G (p.Leu1243Trp) c.*381T>G (n.*381T>G) c.*389T>G (n.*389T>G) c.*2103T>G (n.*2103T>G) c.3722T>G (p.Leu1241Trp) c.*3552T>G (n.*3552T>G) c.3302T>G (p.Leu1101Trp) c.476T>G (p.Leu159Trp) c.1515T>G (n.1515T>G) c.310T>G c.1178T>G c.3638T>G (p.Leu1213Trp) c.3818T>G (p.Leu1273Trp) c.3485T>G (p.Leu1162Trp) | ClinVar gnomAD v4 |
| 7 | g.117642448T= | CA1737404731 | CFTR | c.3528T= (p.Leu1176=) c.*3442T= (n.*3442T=) c.3545T= (p.Leu1182=) c.3728T= (p.Leu1243=) c.*381T= (n.*381T=) c.*389T= (n.*389T=) c.*2103T= (n.*2103T=) c.3722T= (p.Leu1241=) c.*3552T= (n.*3552T=) c.3302T= (p.Leu1101=) c.476T= (p.Leu159=) c.1515T= (n.1515T=) c.310T= c.1178T= c.3638T= (p.Leu1213=) c.3818T= (p.Leu1273=) c.3485T= (p.Leu1162=) | |
| 7 | g.117642448_117642463dup | CA2695205217 | CFTR | c.3528_3543dup (p.Arg1182TrpfsTer16) c.*3442_*3457dup (n.*3442_*3457dup) c.3545_3560dup (p.Ser1190AsnfsTer19) c.3728_3743dup (p.Ser1251AsnfsTer19) c.*381_*396dup (n.*381_*396dup) c.*389_*404dup (n.*389_*404dup) c.*2103_*2118dup (n.*2103_*2118dup) c.3722_3737dup (p.Ser1249AsnfsTer19) c.*3552_*3567dup (n.*3552_*3567dup) c.3302_3317dup (p.Ser1109AsnfsTer19) c.476_491dup (p.Ser167AsnfsTer19) c.1515_1530dup (n.1515_1530dup) c.310_325dup c.1178_1193dup c.3638_3653dup (p.Ser1221AsnfsTer19) c.3818_3833dup (p.Ser1281AsnfsTer19) c.3485_3500dup (p.Ser1170AsnfsTer19) |