| 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.117642568_117642571del | CA577224055 | CFTR | c.*57_*60del (n.*57_*60del) c.*3562_*3565del (n.*3562_*3565del) c.3665_3668del (p.Arg1222LysfsTer5) c.3848_3851del (p.Arg1283LysfsTer5) c.*501_*504del (n.*501_*504del) c.*509_*512del (n.*509_*512del) c.*2223_*2226del (n.*2223_*2226del) c.3842_3845del (p.Arg1281LysfsTer5) c.*3672_*3675del (n.*3672_*3675del) c.3422_3425del (p.Arg1141LysfsTer5) c.596_599del (p.Arg199LysfsTer5) c.1635_1638del (n.1635_1638del) c.430_433del c.1298_1301del c.3758_3761del (p.Arg1253LysfsTer5) c.3938_3941del (p.Arg1313LysfsTer5) c.3605_3608del (p.Arg1202LysfsTer5) | gnomAD v2 |
| 7 | g.117642568G>A | CA327307 | CFTR | c.*57G>A (n.*57G>A) c.*3562G>A (n.*3562G>A) c.3665G>A (p.Arg1222Lys) c.3848G>A (p.Arg1283Lys) c.*501G>A (n.*501G>A) c.*509G>A (n.*509G>A) c.*2223G>A (n.*2223G>A) c.3842G>A (p.Arg1281Lys) c.*3672G>A (n.*3672G>A) c.3422G>A (p.Arg1141Lys) c.596G>A (p.Arg199Lys) c.1635G>A (n.1635G>A) c.430G>A c.1298G>A c.3758G>A (p.Arg1253Lys) c.3938G>A (p.Arg1313Lys) c.3605G>A (p.Arg1202Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117642568G>C | CA368975480 | CFTR | c.*57G>C (n.*57G>C) c.*3562G>C (n.*3562G>C) c.3665G>C (p.Arg1222Thr) c.3848G>C (p.Arg1283Thr) c.*501G>C (n.*501G>C) c.*509G>C (n.*509G>C) c.*2223G>C (n.*2223G>C) c.3842G>C (p.Arg1281Thr) c.*3672G>C (n.*3672G>C) c.3422G>C (p.Arg1141Thr) c.596G>C (p.Arg199Thr) c.1635G>C (n.1635G>C) c.430G>C c.1298G>C c.3758G>C (p.Arg1253Thr) c.3938G>C (p.Arg1313Thr) c.3605G>C (p.Arg1202Thr) | dbSNP |
| 7 | g.117642568G= | CA1737404803 | CFTR | c.*57G= (n.*57G=) c.*3562G= (n.*3562G=) c.3665G= (p.Arg1222=) c.3848G= (p.Arg1283=) c.*501G= (n.*501G=) c.*509G= (n.*509G=) c.*2223G= (n.*2223G=) c.3842G= (p.Arg1281=) c.*3672G= (n.*3672G=) c.3422G= (p.Arg1141=) c.596G= (p.Arg199=) c.1635G= (n.1635G=) c.430G= c.1298G= c.3758G= (p.Arg1253=) c.3938G= (p.Arg1313=) c.3605G= (p.Arg1202=) | |
| 7 | g.117642568G>T | CA325559 | CFTR | c.*57G>T (n.*57G>T) c.*3562G>T (n.*3562G>T) c.3665G>T (p.Arg1222Met) c.3848G>T (p.Arg1283Met) c.*501G>T (n.*501G>T) c.*509G>T (n.*509G>T) c.*2223G>T (n.*2223G>T) c.3842G>T (p.Arg1281Met) c.*3672G>T (n.*3672G>T) c.3422G>T (p.Arg1141Met) c.596G>T (p.Arg199Met) c.1635G>T (n.1635G>T) c.430G>T c.1298G>T c.3758G>T (p.Arg1253Met) c.3938G>T (p.Arg1313Met) c.3605G>T (p.Arg1202Met) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117642569G>A | CA457228437 | CFTR | c.*58G>A (n.*58G>A) c.*3563G>A (n.*3563G>A) c.3666G>A (p.Arg1222=) c.3849G>A (p.Arg1283=) c.*502G>A (n.*502G>A) c.*510G>A (n.*510G>A) c.*2224G>A (n.*2224G>A) c.3843G>A (p.Arg1281=) c.*3673G>A (n.*3673G>A) c.3423G>A (p.Arg1141=) c.597G>A (p.Arg199=) c.1636G>A (n.1636G>A) c.431G>A c.1299G>A c.3759G>A (p.Arg1253=) c.3939G>A (p.Arg1313=) c.3606G>A (p.Arg1202=) | ClinVar COSMIC |
| 7 | g.117642569G>C | CA368975486 | CFTR | c.*58G>C (n.*58G>C) c.*3563G>C (n.*3563G>C) c.3666G>C (p.Arg1222Ser) c.3849G>C (p.Arg1283Ser) c.*502G>C (n.*502G>C) c.*510G>C (n.*510G>C) c.*2224G>C (n.*2224G>C) c.3843G>C (p.Arg1281Ser) c.*3673G>C (n.*3673G>C) c.3423G>C (p.Arg1141Ser) c.597G>C (p.Arg199Ser) c.1636G>C (n.1636G>C) c.431G>C c.1299G>C c.3759G>C (p.Arg1253Ser) c.3939G>C (p.Arg1313Ser) c.3606G>C (p.Arg1202Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117642569G= | CA1737404804 | CFTR | c.*58G= (n.*58G=) c.*3563G= (n.*3563G=) c.3666G= (p.Arg1222=) c.3849G= (p.Arg1283=) c.*502G= (n.*502G=) c.*510G= (n.*510G=) c.*2224G= (n.*2224G=) c.3843G= (p.Arg1281=) c.*3673G= (n.*3673G=) c.3423G= (p.Arg1141=) c.597G= (p.Arg199=) c.1636G= (n.1636G=) c.431G= c.1299G= c.3759G= (p.Arg1253=) c.3939G= (p.Arg1313=) c.3606G= (p.Arg1202=) | |
| 7 | g.117642569G>T | CA368975489 | CFTR | c.*58G>T (n.*58G>T) c.*3563G>T (n.*3563G>T) c.3666G>T (p.Arg1222Ser) c.3849G>T (p.Arg1283Ser) c.*502G>T (n.*502G>T) c.*510G>T (n.*510G>T) c.*2224G>T (n.*2224G>T) c.3843G>T (p.Arg1281Ser) c.*3673G>T (n.*3673G>T) c.3423G>T (p.Arg1141Ser) c.597G>T (p.Arg199Ser) c.1636G>T (n.1636G>T) c.431G>T c.1299G>T c.3759G>T (p.Arg1253Ser) c.3939G>T (p.Arg1313Ser) c.3606G>T (p.Arg1202Ser) | |
| 7 | g.117642570A>C | CA368975493 | CFTR | c.*59A>C (n.*59A>C) c.*3564A>C (n.*3564A>C) c.3667A>C (p.Lys1223Gln) c.3850A>C (p.Lys1284Gln) c.*503A>C (n.*503A>C) c.*511A>C (n.*511A>C) c.*2225A>C (n.*2225A>C) c.3844A>C (p.Lys1282Gln) c.*3674A>C (n.*3674A>C) c.3424A>C (p.Lys1142Gln) c.598A>C (p.Lys200Gln) c.1637A>C (n.1637A>C) c.432A>C c.1300A>C c.3760A>C (p.Lys1254Gln) c.3940A>C (p.Lys1314Gln) c.3607A>C (p.Lys1203Gln) | |
| 7 | g.117642570A>G | CA368975502 | CFTR | c.*59A>G (n.*59A>G) c.*3564A>G (n.*3564A>G) c.3667A>G (p.Lys1223Glu) c.3850A>G (p.Lys1284Glu) c.*503A>G (n.*503A>G) c.*511A>G (n.*511A>G) c.*2225A>G (n.*2225A>G) c.3844A>G (p.Lys1282Glu) c.*3674A>G (n.*3674A>G) c.3424A>G (p.Lys1142Glu) c.598A>G (p.Lys200Glu) c.1637A>G (n.1637A>G) c.432A>G c.1300A>G c.3760A>G (p.Lys1254Glu) c.3940A>G (p.Lys1314Glu) c.3607A>G (p.Lys1203Glu) | |
| 7 | g.117642570A>T | CA368975498 | CFTR | c.*59A>T (n.*59A>T) c.*3564A>T (n.*3564A>T) c.3667A>T (p.Lys1223Ter) c.3850A>T (p.Lys1284Ter) c.*503A>T (n.*503A>T) c.*511A>T (n.*511A>T) c.*2225A>T (n.*2225A>T) c.3844A>T (p.Lys1282Ter) c.*3674A>T (n.*3674A>T) c.3424A>T (p.Lys1142Ter) c.598A>T (p.Lys200Ter) c.1637A>T (n.1637A>T) c.432A>T c.1300A>T c.3760A>T (p.Lys1254Ter) c.3940A>T (p.Lys1314Ter) c.3607A>T (p.Lys1203Ter) | |
| 7 | g.117642571_117642572dup | CA16041138 | CFTR | c.*60_*61dup (n.*60_*61dup) c.*3565_*3566dup (n.*3565_*3566dup) c.3668_3669dup (p.Ala1224LysfsTer5) c.3851_3852dup (p.Ala1285LysfsTer5) c.*504_*505dup (n.*504_*505dup) c.*512_*513dup (n.*512_*513dup) c.*2226_*2227dup (n.*2226_*2227dup) c.3845_3846dup (p.Ala1283LysfsTer5) c.*3675_*3676dup (n.*3675_*3676dup) c.3425_3426dup (p.Ala1143LysfsTer5) c.599_600dup (p.Ala201LysfsTer5) c.1638_1639dup (n.1638_1639dup) c.433_434dup c.1301_1302dup c.3761_3762dup (p.Ala1255LysfsTer5) c.3941_3942dup (p.Ala1315LysfsTer5) c.3608_3609dup (p.Ala1204LysfsTer5) | ClinVar dbSNP |
| 7 | g.117642570_117642575delinsAAAGCC | CA1737404805 | CFTR | c.*59_*64delinsAAAGCC (n.*59_*64delinsAAAGCC) c.*3564_*3569delinsAAAGCC (n.*3564_*3569delinsAAAGCC) c.3667_3672delinsAAAGCC (p.Lys1223=) c.3850_3855delinsAAAGCC (p.Lys1284=) c.*503_*508delinsAAAGCC (n.*503_*508delinsAAAGCC) c.*511_*516delinsAAAGCC (n.*511_*516delinsAAAGCC) c.*2225_*2230delinsAAAGCC (n.*2225_*2230delinsAAAGCC) c.3844_3849delinsAAAGCC (p.Lys1282=) c.*3674_*3679delinsAAAGCC (n.*3674_*3679delinsAAAGCC) c.3424_3429delinsAAAGCC (p.Lys1142=) c.598_603delinsAAAGCC (p.Lys200=) c.1637_1642delinsAAAGCC (n.1637_1642delinsAAAGCC) c.432_437delinsAAAGCC c.1300_1305delinsAAAGCC c.3760_3765delinsAAAGCC (p.Lys1254=) c.3940_3945delinsAAAGCC (p.Lys1314=) c.3607_3612delinsAAAGCC (p.Lys1203=) | |
| 7 | g.117642571A>C | CA368975505 | CFTR | c.*60A>C (n.*60A>C) c.*3565A>C (n.*3565A>C) c.3668A>C (p.Lys1223Thr) c.3851A>C (p.Lys1284Thr) c.*504A>C (n.*504A>C) c.*512A>C (n.*512A>C) c.*2226A>C (n.*2226A>C) c.3845A>C (p.Lys1282Thr) c.*3675A>C (n.*3675A>C) c.3425A>C (p.Lys1142Thr) c.599A>C (p.Lys200Thr) c.1638A>C (n.1638A>C) c.433A>C c.1301A>C c.3761A>C (p.Lys1254Thr) c.3941A>C (p.Lys1314Thr) c.3608A>C (p.Lys1203Thr) | |
| 7 | g.117642571A>G | CA368975509 | CFTR | c.*60A>G (n.*60A>G) c.*3565A>G (n.*3565A>G) c.3668A>G (p.Lys1223Arg) c.3851A>G (p.Lys1284Arg) c.*504A>G (n.*504A>G) c.*512A>G (n.*512A>G) c.*2226A>G (n.*2226A>G) c.3845A>G (p.Lys1282Arg) c.*3675A>G (n.*3675A>G) c.3425A>G (p.Lys1142Arg) c.599A>G (p.Lys200Arg) c.1638A>G (n.1638A>G) c.433A>G c.1301A>G c.3761A>G (p.Lys1254Arg) c.3941A>G (p.Lys1314Arg) c.3608A>G (p.Lys1203Arg) | ClinVar dbSNP |
| 7 | g.117642571A>T | CA368975513 | CFTR | c.*60A>T (n.*60A>T) c.*3565A>T (n.*3565A>T) c.3668A>T (p.Lys1223Ile) c.3851A>T (p.Lys1284Ile) c.*504A>T (n.*504A>T) c.*512A>T (n.*512A>T) c.*2226A>T (n.*2226A>T) c.3845A>T (p.Lys1282Ile) c.*3675A>T (n.*3675A>T) c.3425A>T (p.Lys1142Ile) c.599A>T (p.Lys200Ile) c.1638A>T (n.1638A>T) c.433A>T c.1301A>T c.3761A>T (p.Lys1254Ile) c.3941A>T (p.Lys1314Ile) c.3608A>T (p.Lys1203Ile) | |
| 7 | g.117642571_117642575del | CA577224058 | CFTR | c.*60_*64del (n.*60_*64del) c.*3565_*3569del (n.*3565_*3569del) c.3668_3672del (p.Lys1223IlefsTer16) c.3851_3855del (p.Lys1284IlefsTer?) c.*504_*508del (n.*504_*508del) c.3851_3855del (p.Lys1284IlefsTer16) c.*512_*516del (n.*512_*516del) c.*2226_*2230del (n.*2226_*2230del) c.3845_3849del (p.Lys1282IlefsTer16) c.*3675_*3679del (n.*3675_*3679del) c.3425_3429del (p.Lys1142IlefsTer16) c.599_603del (p.Lys200IlefsTer?) c.1638_1642del (n.1638_1642del) c.433_437del c.1301_1305del c.3761_3765del (p.Lys1254IlefsTer16) c.3941_3945del (p.Lys1314IlefsTer16) c.3608_3612del (p.Lys1203IlefsTer16) | dbSNP gnomAD v2 |
| 7 | g.117642572A= | CA1737404806 | CFTR | c.*61A= (n.*61A=) c.*3566A= (n.*3566A=) c.3669A= (p.Lys1223=) c.3852A= (p.Lys1284=) c.*505A= (n.*505A=) c.*513A= (n.*513A=) c.*2227A= (n.*2227A=) c.3846A= (p.Lys1282=) c.*3676A= (n.*3676A=) c.3426A= (p.Lys1142=) c.600A= (p.Lys200=) c.1639A= (n.1639A=) c.434A= c.1302A= c.3762A= (p.Lys1254=) c.3942A= (p.Lys1314=) c.3609A= (p.Lys1203=) | |
| 7 | g.117642572A>C | CA368975516 | CFTR | c.*61A>C (n.*61A>C) c.*3566A>C (n.*3566A>C) c.3669A>C (p.Lys1223Asn) c.3852A>C (p.Lys1284Asn) c.*505A>C (n.*505A>C) c.*513A>C (n.*513A>C) c.*2227A>C (n.*2227A>C) c.3846A>C (p.Lys1282Asn) c.*3676A>C (n.*3676A>C) c.3426A>C (p.Lys1142Asn) c.600A>C (p.Lys200Asn) c.1639A>C (n.1639A>C) c.434A>C c.1302A>C c.3762A>C (p.Lys1254Asn) c.3942A>C (p.Lys1314Asn) c.3609A>C (p.Lys1203Asn) | |
| 7 | g.117642572A>G | CA4451557 | CFTR | c.*61A>G (n.*61A>G) c.*3566A>G (n.*3566A>G) c.3669A>G (p.Lys1223=) c.3852A>G (p.Lys1284=) c.*505A>G (n.*505A>G) c.*513A>G (n.*513A>G) c.*2227A>G (n.*2227A>G) c.3846A>G (p.Lys1282=) c.*3676A>G (n.*3676A>G) c.3426A>G (p.Lys1142=) c.600A>G (p.Lys200=) c.1639A>G (n.1639A>G) c.434A>G c.1302A>G c.3762A>G (p.Lys1254=) c.3942A>G (p.Lys1314=) c.3609A>G (p.Lys1203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642572A>T | CA368975517 | CFTR | c.*61A>T (n.*61A>T) c.*3566A>T (n.*3566A>T) c.3669A>T (p.Lys1223Asn) c.3852A>T (p.Lys1284Asn) c.*505A>T (n.*505A>T) c.*513A>T (n.*513A>T) c.*2227A>T (n.*2227A>T) c.3846A>T (p.Lys1282Asn) c.*3676A>T (n.*3676A>T) c.3426A>T (p.Lys1142Asn) c.600A>T (p.Lys200Asn) c.1639A>T (n.1639A>T) c.434A>T c.1302A>T c.3762A>T (p.Lys1254Asn) c.3942A>T (p.Lys1314Asn) c.3609A>T (p.Lys1203Asn) | gnomAD v4 |
| 7 | g.117642573G>A | CA164947691 | CFTR | c.*62G>A (n.*62G>A) c.*3567G>A (n.*3567G>A) c.3670G>A (p.Ala1224Thr) c.3853G>A (p.Ala1285Thr) c.*506G>A (n.*506G>A) c.*514G>A (n.*514G>A) c.*2228G>A (n.*2228G>A) c.3847G>A (p.Ala1283Thr) c.*3677G>A (n.*3677G>A) c.3427G>A (p.Ala1143Thr) c.601G>A (p.Ala201Thr) c.1640G>A (n.1640G>A) c.435G>A c.1303G>A c.3763G>A (p.Ala1255Thr) c.3943G>A (p.Ala1315Thr) c.3610G>A (p.Ala1204Thr) | ClinVar dbSNP |
| 7 | g.117642573G>C | CA368975521 | CFTR | c.*62G>C (n.*62G>C) c.*3567G>C (n.*3567G>C) c.3670G>C (p.Ala1224Pro) c.3853G>C (p.Ala1285Pro) c.*506G>C (n.*506G>C) c.*514G>C (n.*514G>C) c.*2228G>C (n.*2228G>C) c.3847G>C (p.Ala1283Pro) c.*3677G>C (n.*3677G>C) c.3427G>C (p.Ala1143Pro) c.601G>C (p.Ala201Pro) c.1640G>C (n.1640G>C) c.435G>C c.1303G>C c.3763G>C (p.Ala1255Pro) c.3943G>C (p.Ala1315Pro) c.3610G>C (p.Ala1204Pro) | |
| 7 | g.117642573G= | CA1737404807 | CFTR | c.*62G= (n.*62G=) c.*3567G= (n.*3567G=) c.3670G= (p.Ala1224=) c.3853G= (p.Ala1285=) c.*506G= (n.*506G=) c.*514G= (n.*514G=) c.*2228G= (n.*2228G=) c.3847G= (p.Ala1283=) c.*3677G= (n.*3677G=) c.3427G= (p.Ala1143=) c.601G= (p.Ala201=) c.1640G= (n.1640G=) c.435G= c.1303G= c.3763G= (p.Ala1255=) c.3943G= (p.Ala1315=) c.3610G= (p.Ala1204=) | |
| 7 | g.117642573G>T | CA368975523 | CFTR | c.*62G>T (n.*62G>T) c.*3567G>T (n.*3567G>T) c.3670G>T (p.Ala1224Ser) c.3853G>T (p.Ala1285Ser) c.*506G>T (n.*506G>T) c.*514G>T (n.*514G>T) c.*2228G>T (n.*2228G>T) c.3847G>T (p.Ala1283Ser) c.*3677G>T (n.*3677G>T) c.3427G>T (p.Ala1143Ser) c.601G>T (p.Ala201Ser) c.1640G>T (n.1640G>T) c.435G>T c.1303G>T c.3763G>T (p.Ala1255Ser) c.3943G>T (p.Ala1315Ser) c.3610G>T (p.Ala1204Ser) | dbSNP |
| 7 | g.117642573_117642574delinsGC | CA1737404808 | CFTR | c.*62_*63delinsGC (n.*62_*63delinsGC) c.*3567_*3568delinsGC (n.*3567_*3568delinsGC) c.3670_3671delinsGC (p.Ala1224=) c.3853_3854delinsGC (p.Ala1285=) c.*506_*507delinsGC (n.*506_*507delinsGC) c.*514_*515delinsGC (n.*514_*515delinsGC) c.*2228_*2229delinsGC (n.*2228_*2229delinsGC) c.3847_3848delinsGC (p.Ala1283=) c.*3677_*3678delinsGC (n.*3677_*3678delinsGC) c.3427_3428delinsGC (p.Ala1143=) c.601_602delinsGC (p.Ala201=) c.1640_1641delinsGC (n.1640_1641delinsGC) c.435_436delinsGC c.1303_1304delinsGC c.3763_3764delinsGC (p.Ala1255=) c.3943_3944delinsGC (p.Ala1315=) c.3610_3611delinsGC (p.Ala1204=) | |
| 7 | g.117642574C>A | CA368975529 | CFTR | c.*63C>A (n.*63C>A) c.*3568C>A (n.*3568C>A) c.3671C>A (p.Ala1224Asp) c.3854C>A (p.Ala1285Asp) c.*507C>A (n.*507C>A) c.*515C>A (n.*515C>A) c.*2229C>A (n.*2229C>A) c.3848C>A (p.Ala1283Asp) c.*3678C>A (n.*3678C>A) c.3428C>A (p.Ala1143Asp) c.602C>A (p.Ala201Asp) c.1641C>A (n.1641C>A) c.436C>A c.1304C>A c.3764C>A (p.Ala1255Asp) c.3944C>A (p.Ala1315Asp) c.3611C>A (p.Ala1204Asp) | dbSNP gnomAD v2 |
| 7 | g.117642574C= | CA1737404809 | CFTR | c.*63C= (n.*63C=) c.*3568C= (n.*3568C=) c.3671C= (p.Ala1224=) c.3854C= (p.Ala1285=) c.*507C= (n.*507C=) c.*515C= (n.*515C=) c.*2229C= (n.*2229C=) c.3848C= (p.Ala1283=) c.*3678C= (n.*3678C=) c.3428C= (p.Ala1143=) c.602C= (p.Ala201=) c.1641C= (n.1641C=) c.436C= c.1304C= c.3764C= (p.Ala1255=) c.3944C= (p.Ala1315=) c.3611C= (p.Ala1204=) | |
| 7 | g.117642574C>G | CA368975532 | CFTR | c.*63C>G (n.*63C>G) c.*3568C>G (n.*3568C>G) c.3671C>G (p.Ala1224Gly) c.3854C>G (p.Ala1285Gly) c.*507C>G (n.*507C>G) c.*515C>G (n.*515C>G) c.*2229C>G (n.*2229C>G) c.3848C>G (p.Ala1283Gly) c.*3678C>G (n.*3678C>G) c.3428C>G (p.Ala1143Gly) c.602C>G (p.Ala201Gly) c.1641C>G (n.1641C>G) c.436C>G c.1304C>G c.3764C>G (p.Ala1255Gly) c.3944C>G (p.Ala1315Gly) c.3611C>G (p.Ala1204Gly) | ClinVar gnomAD v4 |
| 7 | g.117642574C>T | CA327309 | CFTR | c.*63C>T (n.*63C>T) c.*3568C>T (n.*3568C>T) c.3671C>T (p.Ala1224Val) c.3854C>T (p.Ala1285Val) c.*507C>T (n.*507C>T) c.*515C>T (n.*515C>T) c.*2229C>T (n.*2229C>T) c.3848C>T (p.Ala1283Val) c.*3678C>T (n.*3678C>T) c.3428C>T (p.Ala1143Val) c.602C>T (p.Ala201Val) c.1641C>T (n.1641C>T) c.436C>T c.1304C>T c.3764C>T (p.Ala1255Val) c.3944C>T (p.Ala1315Val) c.3611C>T (p.Ala1204Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642575del | CA327311 | CFTR | c.*64del (n.*64del) c.*3569del (n.*3569del) c.3672del (p.Phe1225LeufsTer3) c.3855del (p.Phe1286LeufsTer3) c.*508del (n.*508del) c.*516del (n.*516del) c.*2230del (n.*2230del) c.3849del (p.Phe1284LeufsTer3) c.*3679del (n.*3679del) c.3429del (p.Phe1144LeufsTer3) c.603del (p.Phe202LeufsTer3) c.1642del (n.1642del) c.437del c.1305del c.3765del (p.Phe1256LeufsTer3) c.3945del (p.Phe1316LeufsTer3) c.3612del (p.Phe1205LeufsTer3) | ClinVar dbSNP |
| 7 | g.117642575C>A | CA457228464 | CFTR | c.*64C>A (n.*64C>A) c.*3569C>A (n.*3569C>A) c.3672C>A (p.Ala1224=) c.3855C>A (p.Ala1285=) c.*508C>A (n.*508C>A) c.*516C>A (n.*516C>A) c.*2230C>A (n.*2230C>A) c.3849C>A (p.Ala1283=) c.*3679C>A (n.*3679C>A) c.3429C>A (p.Ala1143=) c.603C>A (p.Ala201=) c.1642C>A (n.1642C>A) c.437C>A c.1305C>A c.3765C>A (p.Ala1255=) c.3945C>A (p.Ala1315=) c.3612C>A (p.Ala1204=) | |
| 7 | g.117642575C= | CA1737404810 | CFTR | c.*64C= (n.*64C=) c.*3569C= (n.*3569C=) c.3672C= (p.Ala1224=) c.3855C= (p.Ala1285=) c.*508C= (n.*508C=) c.*516C= (n.*516C=) c.*2230C= (n.*2230C=) c.3849C= (p.Ala1283=) c.*3679C= (n.*3679C=) c.3429C= (p.Ala1143=) c.603C= (p.Ala201=) c.1642C= (n.1642C=) c.437C= c.1305C= c.3765C= (p.Ala1255=) c.3945C= (p.Ala1315=) c.3612C= (p.Ala1204=) | |
| 7 | g.117642575C>G | CA4451558 | CFTR | c.*64C>G (n.*64C>G) c.*3569C>G (n.*3569C>G) c.3672C>G (p.Ala1224=) c.3855C>G (p.Ala1285=) c.*508C>G (n.*508C>G) c.*516C>G (n.*516C>G) c.*2230C>G (n.*2230C>G) c.3849C>G (p.Ala1283=) c.*3679C>G (n.*3679C>G) c.3429C>G (p.Ala1143=) c.603C>G (p.Ala201=) c.1642C>G (n.1642C>G) c.437C>G c.1305C>G c.3765C>G (p.Ala1255=) c.3945C>G (p.Ala1315=) c.3612C>G (p.Ala1204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117642575C>T | CA457228467 | CFTR | c.*64C>T (n.*64C>T) c.*3569C>T (n.*3569C>T) c.3672C>T (p.Ala1224=) c.3855C>T (p.Ala1285=) c.*508C>T (n.*508C>T) c.*516C>T (n.*516C>T) c.*2230C>T (n.*2230C>T) c.3849C>T (p.Ala1283=) c.*3679C>T (n.*3679C>T) c.3429C>T (p.Ala1143=) c.603C>T (p.Ala201=) c.1642C>T (n.1642C>T) c.437C>T c.1305C>T c.3765C>T (p.Ala1255=) c.3945C>T (p.Ala1315=) c.3612C>T (p.Ala1204=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117642576T>A | CA368975540 | CFTR | c.*65T>A (n.*65T>A) c.*3570T>A (n.*3570T>A) c.3673T>A (p.Phe1225Ile) c.3856T>A (p.Phe1286Ile) c.*509T>A (n.*509T>A) c.*517T>A (n.*517T>A) c.*2231T>A (n.*2231T>A) c.3850T>A (p.Phe1284Ile) c.*3680T>A (n.*3680T>A) c.3430T>A (p.Phe1144Ile) c.604T>A (p.Phe202Ile) c.1643T>A (n.1643T>A) c.438T>A c.1306T>A c.3766T>A (p.Phe1256Ile) c.3946T>A (p.Phe1316Ile) c.3613T>A (p.Phe1205Ile) | |
| 7 | g.117642576T>C | CA368975544 | CFTR | c.*65T>C (n.*65T>C) c.*3570T>C (n.*3570T>C) c.3673T>C (p.Phe1225Leu) c.3856T>C (p.Phe1286Leu) c.*509T>C (n.*509T>C) c.*517T>C (n.*517T>C) c.*2231T>C (n.*2231T>C) c.3850T>C (p.Phe1284Leu) c.*3680T>C (n.*3680T>C) c.3430T>C (p.Phe1144Leu) c.604T>C (p.Phe202Leu) c.1643T>C (n.1643T>C) c.438T>C c.1306T>C c.3766T>C (p.Phe1256Leu) c.3946T>C (p.Phe1316Leu) c.3613T>C (p.Phe1205Leu) | COSMIC |
| 7 | g.117642576T>G | CA368975546 | CFTR | c.*65T>G (n.*65T>G) c.*3570T>G (n.*3570T>G) c.3673T>G (p.Phe1225Val) c.3856T>G (p.Phe1286Val) c.*509T>G (n.*509T>G) c.*517T>G (n.*517T>G) c.*2231T>G (n.*2231T>G) c.3850T>G (p.Phe1284Val) c.*3680T>G (n.*3680T>G) c.3430T>G (p.Phe1144Val) c.604T>G (p.Phe202Val) c.1643T>G (n.1643T>G) c.438T>G c.1306T>G c.3766T>G (p.Phe1256Val) c.3946T>G (p.Phe1316Val) c.3613T>G (p.Phe1205Val) | |
| 7 | g.117642577T>A | CA368975555 | CFTR | c.*66T>A (n.*66T>A) c.*3571T>A (n.*3571T>A) c.3674T>A (p.Phe1225Tyr) c.3857T>A (p.Phe1286Tyr) c.*510T>A (n.*510T>A) c.*518T>A (n.*518T>A) c.*2232T>A (n.*2232T>A) c.3851T>A (p.Phe1284Tyr) c.*3681T>A (n.*3681T>A) c.3431T>A (p.Phe1144Tyr) c.605T>A (p.Phe202Tyr) c.1644T>A (n.1644T>A) c.439T>A c.1307T>A c.3767T>A (p.Phe1256Tyr) c.3947T>A (p.Phe1316Tyr) c.3614T>A (p.Phe1205Tyr) | |
| 7 | g.117642577T>C | CA325574 | CFTR | c.*66T>C (n.*66T>C) c.*3571T>C (n.*3571T>C) c.3674T>C (p.Phe1225Ser) c.3857T>C (p.Phe1286Ser) c.*510T>C (n.*510T>C) c.*518T>C (n.*518T>C) c.*2232T>C (n.*2232T>C) c.3851T>C (p.Phe1284Ser) c.*3681T>C (n.*3681T>C) c.3431T>C (p.Phe1144Ser) c.605T>C (p.Phe202Ser) c.1644T>C (n.1644T>C) c.439T>C c.1307T>C c.3767T>C (p.Phe1256Ser) c.3947T>C (p.Phe1316Ser) c.3614T>C (p.Phe1205Ser) | ClinVar dbSNP |
| 7 | g.117642577T>G | CA368975550 | CFTR | c.*66T>G (n.*66T>G) c.*3571T>G (n.*3571T>G) c.3674T>G (p.Phe1225Cys) c.3857T>G (p.Phe1286Cys) c.*510T>G (n.*510T>G) c.*518T>G (n.*518T>G) c.*2232T>G (n.*2232T>G) c.3851T>G (p.Phe1284Cys) c.*3681T>G (n.*3681T>G) c.3431T>G (p.Phe1144Cys) c.605T>G (p.Phe202Cys) c.1644T>G (n.1644T>G) c.439T>G c.1307T>G c.3767T>G (p.Phe1256Cys) c.3947T>G (p.Phe1316Cys) c.3614T>G (p.Phe1205Cys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117642577T= | CA1737404811 | CFTR | c.*66T= (n.*66T=) c.*3571T= (n.*3571T=) c.3674T= (p.Phe1225=) c.3857T= (p.Phe1286=) c.*510T= (n.*510T=) c.*518T= (n.*518T=) c.*2232T= (n.*2232T=) c.3851T= (p.Phe1284=) c.*3681T= (n.*3681T=) c.3431T= (p.Phe1144=) c.605T= (p.Phe202=) c.1644T= (n.1644T=) c.439T= c.1307T= c.3767T= (p.Phe1256=) c.3947T= (p.Phe1316=) c.3614T= (p.Phe1205=) | |
| 7 | g.117642578T>A | CA368975560 | CFTR | c.*67T>A (n.*67T>A) c.*3572T>A (n.*3572T>A) c.3675T>A (p.Phe1225Leu) c.3858T>A (p.Phe1286Leu) c.*511T>A (n.*511T>A) c.*519T>A (n.*519T>A) c.*2233T>A (n.*2233T>A) c.3852T>A (p.Phe1284Leu) c.*3682T>A (n.*3682T>A) c.3432T>A (p.Phe1144Leu) c.606T>A (p.Phe202Leu) c.1645T>A (n.1645T>A) c.440T>A c.1308T>A c.3768T>A (p.Phe1256Leu) c.3948T>A (p.Phe1316Leu) c.3615T>A (p.Phe1205Leu) | |
| 7 | g.117642578T>C | CA457228479 | CFTR | c.*67T>C (n.*67T>C) c.*3572T>C (n.*3572T>C) c.3675T>C (p.Phe1225=) c.3858T>C (p.Phe1286=) c.*511T>C (n.*511T>C) c.*519T>C (n.*519T>C) c.*2233T>C (n.*2233T>C) c.3852T>C (p.Phe1284=) c.*3682T>C (n.*3682T>C) c.3432T>C (p.Phe1144=) c.606T>C (p.Phe202=) c.1645T>C (n.1645T>C) c.440T>C c.1308T>C c.3768T>C (p.Phe1256=) c.3948T>C (p.Phe1316=) c.3615T>C (p.Phe1205=) | |
| 7 | g.117642578T>G | CA368975563 | CFTR | c.*67T>G (n.*67T>G) c.*3572T>G (n.*3572T>G) c.3675T>G (p.Phe1225Leu) c.3858T>G (p.Phe1286Leu) c.*511T>G (n.*511T>G) c.*519T>G (n.*519T>G) c.*2233T>G (n.*2233T>G) c.3852T>G (p.Phe1284Leu) c.*3682T>G (n.*3682T>G) c.3432T>G (p.Phe1144Leu) c.606T>G (p.Phe202Leu) c.1645T>G (n.1645T>G) c.440T>G c.1308T>G c.3768T>G (p.Phe1256Leu) c.3948T>G (p.Phe1316Leu) c.3615T>G (p.Phe1205Leu) | dbSNP |
| 7 | g.117642578T= | CA1737404812 | CFTR | c.*67T= (n.*67T=) c.*3572T= (n.*3572T=) c.3675T= (p.Phe1225=) c.3858T= (p.Phe1286=) c.*511T= (n.*511T=) c.*519T= (n.*519T=) c.*2233T= (n.*2233T=) c.3852T= (p.Phe1284=) c.*3682T= (n.*3682T=) c.3432T= (p.Phe1144=) c.606T= (p.Phe202=) c.1645T= (n.1645T=) c.440T= c.1308T= c.3768T= (p.Phe1256=) c.3948T= (p.Phe1316=) c.3615T= (p.Phe1205=) | |
| 7 | g.117642579G>A | CA368975566 | CFTR | c.*68G>A (n.*68G>A) c.*3573G>A (n.*3573G>A) c.3676G>A (p.Gly1226Arg) c.3859G>A (p.Gly1287Arg) c.*512G>A (n.*512G>A) c.*520G>A (n.*520G>A) c.*2234G>A (n.*2234G>A) c.3853G>A (p.Gly1285Arg) c.*3683G>A (n.*3683G>A) c.3433G>A (p.Gly1145Arg) c.607G>A (p.Gly203Arg) c.1646G>A (n.1646G>A) c.441G>A c.1309G>A c.3769G>A (p.Gly1257Arg) c.3949G>A (p.Gly1317Arg) c.3616G>A (p.Gly1206Arg) | ClinVar dbSNP gnomAD v4 |