| 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.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=) | |
| 7 | g.117642479G>T | CA368974621 | CFTR | c.3559G>T (p.Val1187Phe) c.*3473G>T (n.*3473G>T) c.3576G>T (p.Leu1192Phe) c.3759G>T (p.Leu1253Phe) c.*412G>T (n.*412G>T) c.*420G>T (n.*420G>T) c.*2134G>T (n.*2134G>T) c.3753G>T (p.Leu1251Phe) c.*3583G>T (n.*3583G>T) c.3333G>T (p.Leu1111Phe) c.507G>T (p.Leu169Phe) c.1546G>T (n.1546G>T) c.341G>T c.1209G>T c.3669G>T (p.Leu1223Phe) c.3849G>T (p.Leu1283Phe) c.3516G>T (p.Leu1172Phe) | ClinVar |
| 7 | g.117642480T>A | CA368974625 | CFTR | c.3560T>A (p.Val1187Asp) c.*3474T>A (n.*3474T>A) c.3577T>A (p.Leu1193Ile) c.3760T>A (p.Leu1254Ile) c.*413T>A (n.*413T>A) c.*421T>A (n.*421T>A) c.*2135T>A (n.*2135T>A) c.3754T>A (p.Leu1252Ile) c.*3584T>A (n.*3584T>A) c.3334T>A (p.Leu1112Ile) c.508T>A (p.Leu170Ile) c.1547T>A (n.1547T>A) c.342T>A c.1210T>A c.3670T>A (p.Leu1224Ile) c.3850T>A (p.Leu1284Ile) c.3517T>A (p.Leu1173Ile) | |
| 7 | g.117642480T>C | CA457228079 | CFTR | c.3560T>C (p.Val1187Ala) c.*3474T>C (n.*3474T>C) c.3577T>C (p.Leu1193=) c.3760T>C (p.Leu1254=) c.*413T>C (n.*413T>C) c.*421T>C (n.*421T>C) c.*2135T>C (n.*2135T>C) c.3754T>C (p.Leu1252=) c.*3584T>C (n.*3584T>C) c.3334T>C (p.Leu1112=) c.508T>C (p.Leu170=) c.1547T>C (n.1547T>C) c.342T>C c.1210T>C c.3670T>C (p.Leu1224=) c.3850T>C (p.Leu1284=) c.3517T>C (p.Leu1173=) | |
| 7 | g.117642480T>G | CA368974628 | CFTR | c.3560T>G (p.Val1187Gly) c.*3474T>G (n.*3474T>G) c.3577T>G (p.Leu1193Val) c.3760T>G (p.Leu1254Val) c.*413T>G (n.*413T>G) c.*421T>G (n.*421T>G) c.*2135T>G (n.*2135T>G) c.3754T>G (p.Leu1252Val) c.*3584T>G (n.*3584T>G) c.3334T>G (p.Leu1112Val) c.508T>G (p.Leu170Val) c.1547T>G (n.1547T>G) c.342T>G c.1210T>G c.3670T>G (p.Leu1224Val) c.3850T>G (p.Leu1284Val) c.3517T>G (p.Leu1173Val) | |
| 7 | g.117642481T>A | CA368974631 | CFTR | c.3561T>A (p.Val1187=) c.*3475T>A (n.*3475T>A) c.3578T>A (p.Leu1193Ter) c.3761T>A (p.Leu1254Ter) c.*414T>A (n.*414T>A) c.*422T>A (n.*422T>A) c.*2136T>A (n.*2136T>A) c.3755T>A (p.Leu1252Ter) c.*3585T>A (n.*3585T>A) c.3335T>A (p.Leu1112Ter) c.509T>A (p.Leu170Ter) c.1548T>A (n.1548T>A) c.343T>A c.1211T>A c.3671T>A (p.Leu1224Ter) c.3851T>A (p.Leu1284Ter) c.3518T>A (p.Leu1173Ter) | |
| 7 | g.117642481T>C | CA368974634 | CFTR | c.3561T>C (p.Val1187=) c.*3475T>C (n.*3475T>C) c.3578T>C (p.Leu1193Ser) c.3761T>C (p.Leu1254Ser) c.*414T>C (n.*414T>C) c.*422T>C (n.*422T>C) c.*2136T>C (n.*2136T>C) c.3755T>C (p.Leu1252Ser) c.*3585T>C (n.*3585T>C) c.3335T>C (p.Leu1112Ser) c.509T>C (p.Leu170Ser) c.1548T>C (n.1548T>C) c.343T>C c.1211T>C c.3671T>C (p.Leu1224Ser) c.3851T>C (p.Leu1284Ser) c.3518T>C (p.Leu1173Ser) | |
| 7 | g.117642481T>G | CA327280 | CFTR | c.3561T>G (p.Val1187=) c.*3475T>G (n.*3475T>G) c.3578T>G (p.Leu1193Ter) c.3761T>G (p.Leu1254Ter) c.*414T>G (n.*414T>G) c.*422T>G (n.*422T>G) c.*2136T>G (n.*2136T>G) c.3755T>G (p.Leu1252Ter) c.*3585T>G (n.*3585T>G) c.3335T>G (p.Leu1112Ter) c.509T>G (p.Leu170Ter) c.1548T>G (n.1548T>G) c.343T>G c.1211T>G c.3671T>G (p.Leu1224Ter) c.3851T>G (p.Leu1284Ter) c.3518T>G (p.Leu1173Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117642481T= | CA1737404752 | CFTR | c.3561T= (p.Val1187=) c.*3475T= (n.*3475T=) c.3578T= (p.Leu1193=) c.3761T= (p.Leu1254=) c.*414T= (n.*414T=) c.*422T= (n.*422T=) c.*2136T= (n.*2136T=) c.3755T= (p.Leu1252=) c.*3585T= (n.*3585T=) c.3335T= (p.Leu1112=) c.509T= (p.Leu170=) c.1548T= (n.1548T=) c.343T= c.1211T= c.3671T= (p.Leu1224=) c.3851T= (p.Leu1284=) c.3518T= (p.Leu1173=) | |
| 7 | g.117642482A= | CA1737404753 | CFTR | c.3562A= (p.Ile1188=) c.*3476A= (n.*3476A=) c.3579A= (p.Leu1193=) c.3762A= (p.Leu1254=) c.*415A= (n.*415A=) c.*423A= (n.*423A=) c.*2137A= (n.*2137A=) c.3756A= (p.Leu1252=) c.*3586A= (n.*3586A=) c.3336A= (p.Leu1112=) c.510A= (p.Leu170=) c.1549A= (n.1549A=) c.344A= c.1212A= c.3672A= (p.Leu1224=) c.3852A= (p.Leu1284=) c.3519A= (p.Leu1173=) | |
| 7 | g.117642482A>C | CA368974641 | CFTR | c.3562A>C (p.Ile1188Leu) c.*3476A>C (n.*3476A>C) c.3579A>C (p.Leu1193Phe) c.3762A>C (p.Leu1254Phe) c.*415A>C (n.*415A>C) c.*423A>C (n.*423A>C) c.*2137A>C (n.*2137A>C) c.3756A>C (p.Leu1252Phe) c.*3586A>C (n.*3586A>C) c.3336A>C (p.Leu1112Phe) c.510A>C (p.Leu170Phe) c.1549A>C (n.1549A>C) c.344A>C c.1212A>C c.3672A>C (p.Leu1224Phe) c.3852A>C (p.Leu1284Phe) c.3519A>C (p.Leu1173Phe) | |
| 7 | g.117642482A>G | CA457228081 | CFTR | c.3562A>G (p.Ile1188Val) c.*3476A>G (n.*3476A>G) c.3579A>G (p.Leu1193=) c.3762A>G (p.Leu1254=) c.*415A>G (n.*415A>G) c.*423A>G (n.*423A>G) c.*2137A>G (n.*2137A>G) c.3756A>G (p.Leu1252=) c.*3586A>G (n.*3586A>G) c.3336A>G (p.Leu1112=) c.510A>G (p.Leu170=) c.1549A>G (n.1549A>G) c.344A>G c.1212A>G c.3672A>G (p.Leu1224=) c.3852A>G (p.Leu1284=) c.3519A>G (p.Leu1173=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642482A>T | CA4451542 | CFTR | c.3562A>T (p.Ile1188Phe) c.*3476A>T (n.*3476A>T) c.3579A>T (p.Leu1193Phe) c.3762A>T (p.Leu1254Phe) c.*415A>T (n.*415A>T) c.*423A>T (n.*423A>T) c.*2137A>T (n.*2137A>T) c.3756A>T (p.Leu1252Phe) c.*3586A>T (n.*3586A>T) c.3336A>T (p.Leu1112Phe) c.510A>T (p.Leu170Phe) c.1549A>T (n.1549A>T) c.344A>T c.1212A>T c.3672A>T (p.Leu1224Phe) c.3852A>T (p.Leu1284Phe) c.3519A>T (p.Leu1173Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642483T>A | CA368974648 | CFTR | c.3563T>A (p.Ile1188Asn) c.*3477T>A (n.*3477T>A) c.3580T>A (p.Ser1194Thr) c.3763T>A (p.Ser1255Thr) c.*416T>A (n.*416T>A) c.*424T>A (n.*424T>A) c.*2138T>A (n.*2138T>A) c.3757T>A (p.Ser1253Thr) c.*3587T>A (n.*3587T>A) c.3337T>A (p.Ser1113Thr) c.511T>A (p.Ser171Thr) c.1550T>A (n.1550T>A) c.345T>A c.1213T>A c.3673T>A (p.Ser1225Thr) c.3853T>A (p.Ser1285Thr) c.3520T>A (p.Ser1174Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642483T>C | CA325580 | CFTR | c.3563T>C (p.Ile1188Thr) c.*3477T>C (n.*3477T>C) c.3580T>C (p.Ser1194Pro) c.3763T>C (p.Ser1255Pro) c.*416T>C (n.*416T>C) c.*424T>C (n.*424T>C) c.*2138T>C (n.*2138T>C) c.3757T>C (p.Ser1253Pro) c.*3587T>C (n.*3587T>C) c.3337T>C (p.Ser1113Pro) c.511T>C (p.Ser171Pro) c.1550T>C (n.1550T>C) c.345T>C c.1213T>C c.3673T>C (p.Ser1225Pro) c.3853T>C (p.Ser1285Pro) c.3520T>C (p.Ser1174Pro) | ClinVar dbSNP |
| 7 | g.117642483T>G | CA368974659 | CFTR | c.3563T>G (p.Ile1188Ser) c.*3477T>G (n.*3477T>G) c.3580T>G (p.Ser1194Ala) c.3763T>G (p.Ser1255Ala) c.*416T>G (n.*416T>G) c.*424T>G (n.*424T>G) c.*2138T>G (n.*2138T>G) c.3757T>G (p.Ser1253Ala) c.*3587T>G (n.*3587T>G) c.3337T>G (p.Ser1113Ala) c.511T>G (p.Ser171Ala) c.1550T>G (n.1550T>G) c.345T>G c.1213T>G c.3673T>G (p.Ser1225Ala) c.3853T>G (p.Ser1285Ala) c.3520T>G (p.Ser1174Ala) | |
| 7 | g.117642483T= | CA1737404754 | CFTR | c.3563T= (p.Ile1188=) c.*3477T= (n.*3477T=) c.3580T= (p.Ser1194=) c.3763T= (p.Ser1255=) c.*416T= (n.*416T=) c.*424T= (n.*424T=) c.*2138T= (n.*2138T=) c.3757T= (p.Ser1253=) c.*3587T= (n.*3587T=) c.3337T= (p.Ser1113=) c.511T= (p.Ser171=) c.1550T= (n.1550T=) c.345T= c.1213T= c.3673T= (p.Ser1225=) c.3853T= (p.Ser1285=) c.3520T= (p.Ser1174=) | |
| 7 | g.117642484C>A | CA325525 | CFTR | c.3564C>A (p.Ile1188=) c.*3478C>A (n.*3478C>A) c.3581C>A (p.Ser1194Ter) c.3764C>A (p.Ser1255Ter) c.*417C>A (n.*417C>A) c.*425C>A (n.*425C>A) c.*2139C>A (n.*2139C>A) c.3758C>A (p.Ser1253Ter) c.*3588C>A (n.*3588C>A) c.3338C>A (p.Ser1113Ter) c.512C>A (p.Ser171Ter) c.1551C>A (n.1551C>A) c.346C>A c.1214C>A c.3674C>A (p.Ser1225Ter) c.3854C>A (p.Ser1285Ter) c.3521C>A (p.Ser1174Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117642484C= | CA1737404755 | CFTR | c.3564C= (p.Ile1188=) c.*3478C= (n.*3478C=) c.3581C= (p.Ser1194=) c.3764C= (p.Ser1255=) c.*417C= (n.*417C=) c.*425C= (n.*425C=) c.*2139C= (n.*2139C=) c.3758C= (p.Ser1253=) c.*3588C= (n.*3588C=) c.3338C= (p.Ser1113=) c.512C= (p.Ser171=) c.1551C= (n.1551C=) c.346C= c.1214C= c.3674C= (p.Ser1225=) c.3854C= (p.Ser1285=) c.3521C= (p.Ser1174=) | |
| 7 | g.117642484C>G | CA368974665 | CFTR | c.3564C>G (p.Ile1188Met) c.*3478C>G (n.*3478C>G) c.3581C>G (p.Ser1194Ter) c.3764C>G (p.Ser1255Ter) c.*417C>G (n.*417C>G) c.*425C>G (n.*425C>G) c.*2139C>G (n.*2139C>G) c.3758C>G (p.Ser1253Ter) c.*3588C>G (n.*3588C>G) c.3338C>G (p.Ser1113Ter) c.512C>G (p.Ser171Ter) c.1551C>G (n.1551C>G) c.346C>G c.1214C>G c.3674C>G (p.Ser1225Ter) c.3854C>G (p.Ser1285Ter) c.3521C>G (p.Ser1174Ter) | COSMIC |
| 7 | g.117642484C>T | CA327282 | CFTR | c.3564C>T (p.Ile1188=) c.*3478C>T (n.*3478C>T) c.3581C>T (p.Ser1194Leu) c.3764C>T (p.Ser1255Leu) c.*417C>T (n.*417C>T) c.*425C>T (n.*425C>T) c.*2139C>T (n.*2139C>T) c.3758C>T (p.Ser1253Leu) c.*3588C>T (n.*3588C>T) c.3338C>T (p.Ser1113Leu) c.512C>T (p.Ser171Leu) c.1551C>T (n.1551C>T) c.346C>T c.1214C>T c.3674C>T (p.Ser1225Leu) c.3854C>T (p.Ser1285Leu) c.3521C>T (p.Ser1174Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117642485A= | CA1737404756 | CFTR | c.3565A= (p.Ser1189=) c.*3479A= (n.*3479A=) c.3582A= (p.Ser1194=) c.3765A= (p.Ser1255=) c.*418A= (n.*418A=) c.*426A= (n.*426A=) c.*2140A= (n.*2140A=) c.3759A= (p.Ser1253=) c.*3589A= (n.*3589A=) c.3339A= (p.Ser1113=) c.513A= (p.Ser171=) c.1552A= (n.1552A=) c.347A= c.1215A= c.3675A= (p.Ser1225=) c.3855A= (p.Ser1285=) c.3522A= (p.Ser1174=) | |
| 7 | g.117642485A>C | CA457228082 | CFTR | c.3565A>C (p.Ser1189Arg) c.*3479A>C (n.*3479A>C) c.3582A>C (p.Ser1194=) c.3765A>C (p.Ser1255=) c.*418A>C (n.*418A>C) c.*426A>C (n.*426A>C) c.*2140A>C (n.*2140A>C) c.3759A>C (p.Ser1253=) c.*3589A>C (n.*3589A>C) c.3339A>C (p.Ser1113=) c.513A>C (p.Ser171=) c.1552A>C (n.1552A>C) c.347A>C c.1215A>C c.3675A>C (p.Ser1225=) c.3855A>C (p.Ser1285=) c.3522A>C (p.Ser1174=) |