| 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.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.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.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 |
| 7 | g.117642579G>C | CA368975569 | CFTR | c.*68G>C (n.*68G>C) c.*3573G>C (n.*3573G>C) c.3676G>C (p.Gly1226Arg) c.3859G>C (p.Gly1287Arg) c.*512G>C (n.*512G>C) c.*520G>C (n.*520G>C) c.*2234G>C (n.*2234G>C) c.3853G>C (p.Gly1285Arg) c.*3683G>C (n.*3683G>C) c.3433G>C (p.Gly1145Arg) c.607G>C (p.Gly203Arg) c.1646G>C (n.1646G>C) c.441G>C c.1309G>C c.3769G>C (p.Gly1257Arg) c.3949G>C (p.Gly1317Arg) c.3616G>C (p.Gly1206Arg) | |
| 7 | g.117642579G= | CA1737404813 | CFTR | c.*68G= (n.*68G=) c.*3573G= (n.*3573G=) c.3676G= (p.Gly1226=) c.3859G= (p.Gly1287=) c.*512G= (n.*512G=) c.*520G= (n.*520G=) c.*2234G= (n.*2234G=) c.3853G= (p.Gly1285=) c.*3683G= (n.*3683G=) c.3433G= (p.Gly1145=) c.607G= (p.Gly203=) c.1646G= (n.1646G=) c.441G= c.1309G= c.3769G= (p.Gly1257=) c.3949G= (p.Gly1317=) c.3616G= (p.Gly1206=) | |
| 7 | g.117642579G>T | CA368975572 | CFTR | c.*68G>T (n.*68G>T) c.*3573G>T (n.*3573G>T) c.3676G>T (p.Gly1226Ter) c.3859G>T (p.Gly1287Ter) c.*512G>T (n.*512G>T) c.*520G>T (n.*520G>T) c.*2234G>T (n.*2234G>T) c.3853G>T (p.Gly1285Ter) c.*3683G>T (n.*3683G>T) c.3433G>T (p.Gly1145Ter) c.607G>T (p.Gly203Ter) c.1646G>T (n.1646G>T) c.441G>T c.1309G>T c.3769G>T (p.Gly1257Ter) c.3949G>T (p.Gly1317Ter) c.3616G>T (p.Gly1206Ter) | ClinVar dbSNP |
| 7 | g.117642580del | CA2695205221 | CFTR | c.*69del (n.*69del) c.*3574del (n.*3574del) c.3677del (p.Gly1226GlufsTer2) c.3860del (p.Gly1287GlufsTer2) c.*513del (n.*513del) c.*521del (n.*521del) c.*2235del (n.*2235del) c.3854del (p.Gly1285GlufsTer2) c.*3684del (n.*3684del) c.3434del (p.Gly1145GlufsTer2) c.608del (p.Gly203GlufsTer2) c.1647del (n.1647del) c.442del c.1310del c.3770del (p.Gly1257GlufsTer2) c.3950del (p.Gly1317GlufsTer2) c.3617del (p.Gly1206GlufsTer2) | |
| 7 | g.117642580G>A | CA368975577 | CFTR | c.*69G>A (n.*69G>A) c.*3574G>A (n.*3574G>A) c.3677G>A (p.Gly1226Glu) c.3860G>A (p.Gly1287Glu) c.*513G>A (n.*513G>A) c.*521G>A (n.*521G>A) c.*2235G>A (n.*2235G>A) c.3854G>A (p.Gly1285Glu) c.*3684G>A (n.*3684G>A) c.3434G>A (p.Gly1145Glu) c.608G>A (p.Gly203Glu) c.1647G>A (n.1647G>A) c.442G>A c.1310G>A c.3770G>A (p.Gly1257Glu) c.3950G>A (p.Gly1317Glu) c.3617G>A (p.Gly1206Glu) | |
| 7 | g.117642580G>C | CA368975580 | CFTR | c.*69G>C (n.*69G>C) c.*3574G>C (n.*3574G>C) c.3677G>C (p.Gly1226Ala) c.3860G>C (p.Gly1287Ala) c.*513G>C (n.*513G>C) c.*521G>C (n.*521G>C) c.*2235G>C (n.*2235G>C) c.3854G>C (p.Gly1285Ala) c.*3684G>C (n.*3684G>C) c.3434G>C (p.Gly1145Ala) c.608G>C (p.Gly203Ala) c.1647G>C (n.1647G>C) c.442G>C c.1310G>C c.3770G>C (p.Gly1257Ala) c.3950G>C (p.Gly1317Ala) c.3617G>C (p.Gly1206Ala) | |
| 7 | g.117642580G>T | CA368975581 | CFTR | c.*69G>T (n.*69G>T) c.*3574G>T (n.*3574G>T) c.3677G>T (p.Gly1226Val) c.3860G>T (p.Gly1287Val) c.*513G>T (n.*513G>T) c.*521G>T (n.*521G>T) c.*2235G>T (n.*2235G>T) c.3854G>T (p.Gly1285Val) c.*3684G>T (n.*3684G>T) c.3434G>T (p.Gly1145Val) c.608G>T (p.Gly203Val) c.1647G>T (n.1647G>T) c.442G>T c.1310G>T c.3770G>T (p.Gly1257Val) c.3950G>T (p.Gly1317Val) c.3617G>T (p.Gly1206Val) | |
| 7 | g.117642581A>C | CA457228487 | CFTR | c.*70A>C (n.*70A>C) c.*3575A>C (n.*3575A>C) c.3678A>C (p.Gly1226=) c.3861A>C (p.Gly1287=) c.*514A>C (n.*514A>C) c.*522A>C (n.*522A>C) c.*2236A>C (n.*2236A>C) c.3855A>C (p.Gly1285=) c.*3685A>C (n.*3685A>C) c.3435A>C (p.Gly1145=) c.609A>C (p.Gly203=) c.1648A>C (n.1648A>C) c.443A>C c.1311A>C c.3771A>C (p.Gly1257=) c.3951A>C (p.Gly1317=) c.3618A>C (p.Gly1206=) | |
| 7 | g.117642581A>G | CA457228490 | CFTR | c.*70A>G (n.*70A>G) c.*3575A>G (n.*3575A>G) c.3678A>G (p.Gly1226=) c.3861A>G (p.Gly1287=) c.*514A>G (n.*514A>G) c.*522A>G (n.*522A>G) c.*2236A>G (n.*2236A>G) c.3855A>G (p.Gly1285=) c.*3685A>G (n.*3685A>G) c.3435A>G (p.Gly1145=) c.609A>G (p.Gly203=) c.1648A>G (n.1648A>G) c.443A>G c.1311A>G c.3771A>G (p.Gly1257=) c.3951A>G (p.Gly1317=) c.3618A>G (p.Gly1206=) | |
| 7 | g.117642581A>T | CA457228492 | CFTR | c.*70A>T (n.*70A>T) c.*3575A>T (n.*3575A>T) c.3678A>T (p.Gly1226=) c.3861A>T (p.Gly1287=) c.*514A>T (n.*514A>T) c.*522A>T (n.*522A>T) c.*2236A>T (n.*2236A>T) c.3855A>T (p.Gly1285=) c.*3685A>T (n.*3685A>T) c.3435A>T (p.Gly1145=) c.609A>T (p.Gly203=) c.1648A>T (n.1648A>T) c.443A>T c.1311A>T c.3771A>T (p.Gly1257=) c.3951A>T (p.Gly1317=) c.3618A>T (p.Gly1206=) | |
| 7 | g.117642582G>A | CA368975583 | CFTR | c.*71G>A (n.*71G>A) c.*3576G>A (n.*3576G>A) c.3679G>A (p.Val1227Met) c.3862G>A (p.Val1288Met) c.*515G>A (n.*515G>A) c.*523G>A (n.*523G>A) c.*2237G>A (n.*2237G>A) c.3856G>A (p.Val1286Met) c.*3686G>A (n.*3686G>A) c.3436G>A (p.Val1146Met) c.610G>A (p.Val204Met) c.1649G>A (n.1649G>A) c.444G>A c.1312G>A c.3772G>A (p.Val1258Met) c.3952G>A (p.Val1318Met) c.3619G>A (p.Val1207Met) | ClinVar gnomAD v4 |
| 7 | g.117642582G>C | CA368975585 | CFTR | c.*71G>C (n.*71G>C) c.*3576G>C (n.*3576G>C) c.3679G>C (p.Val1227Leu) c.3862G>C (p.Val1288Leu) c.*515G>C (n.*515G>C) c.*523G>C (n.*523G>C) c.*2237G>C (n.*2237G>C) c.3856G>C (p.Val1286Leu) c.*3686G>C (n.*3686G>C) c.3436G>C (p.Val1146Leu) c.610G>C (p.Val204Leu) c.1649G>C (n.1649G>C) c.444G>C c.1312G>C c.3772G>C (p.Val1258Leu) c.3952G>C (p.Val1318Leu) c.3619G>C (p.Val1207Leu) | |
| 7 | g.117642582G>T | CA368975592 | CFTR | c.*71G>T (n.*71G>T) c.*3576G>T (n.*3576G>T) c.3679G>T (p.Val1227Leu) c.3862G>T (p.Val1288Leu) c.*515G>T (n.*515G>T) c.*523G>T (n.*523G>T) c.*2237G>T (n.*2237G>T) c.3856G>T (p.Val1286Leu) c.*3686G>T (n.*3686G>T) c.3436G>T (p.Val1146Leu) c.610G>T (p.Val204Leu) c.1649G>T (n.1649G>T) c.444G>T c.1312G>T c.3772G>T (p.Val1258Leu) c.3952G>T (p.Val1318Leu) c.3619G>T (p.Val1207Leu) | |
| 7 | g.117642583T>A | CA368975598 | CFTR | c.*72T>A (n.*72T>A) c.*3577T>A (n.*3577T>A) c.3680T>A (p.Val1227Glu) c.3863T>A (p.Val1288Glu) c.*516T>A (n.*516T>A) c.*524T>A (n.*524T>A) c.*2238T>A (n.*2238T>A) c.3857T>A (p.Val1286Glu) c.*3687T>A (n.*3687T>A) c.3437T>A (p.Val1146Glu) c.611T>A (p.Val204Glu) c.1650T>A (n.1650T>A) c.445T>A c.1313T>A c.3773T>A (p.Val1258Glu) c.3953T>A (p.Val1318Glu) c.3620T>A (p.Val1207Glu) | |
| 7 | g.117642583T>C | CA368975600 | CFTR | c.*72T>C (n.*72T>C) c.*3577T>C (n.*3577T>C) c.3680T>C (p.Val1227Ala) c.3863T>C (p.Val1288Ala) c.*516T>C (n.*516T>C) c.*524T>C (n.*524T>C) c.*2238T>C (n.*2238T>C) c.3857T>C (p.Val1286Ala) c.*3687T>C (n.*3687T>C) c.3437T>C (p.Val1146Ala) c.611T>C (p.Val204Ala) c.1650T>C (n.1650T>C) c.445T>C c.1313T>C c.3773T>C (p.Val1258Ala) c.3953T>C (p.Val1318Ala) c.3620T>C (p.Val1207Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117642583T>G | CA368975603 | CFTR | c.*72T>G (n.*72T>G) c.*3577T>G (n.*3577T>G) c.3680T>G (p.Val1227Gly) c.3863T>G (p.Val1288Gly) c.*516T>G (n.*516T>G) c.*524T>G (n.*524T>G) c.*2238T>G (n.*2238T>G) c.3857T>G (p.Val1286Gly) c.*3687T>G (n.*3687T>G) c.3437T>G (p.Val1146Gly) c.611T>G (p.Val204Gly) c.1650T>G (n.1650T>G) c.445T>G c.1313T>G c.3773T>G (p.Val1258Gly) c.3953T>G (p.Val1318Gly) c.3620T>G (p.Val1207Gly) | |
| 7 | g.117642583T= | CA1737404814 | CFTR | c.*72T= (n.*72T=) c.*3577T= (n.*3577T=) c.3680T= (p.Val1227=) c.3863T= (p.Val1288=) c.*516T= (n.*516T=) c.*524T= (n.*524T=) c.*2238T= (n.*2238T=) c.3857T= (p.Val1286=) c.*3687T= (n.*3687T=) c.3437T= (p.Val1146=) c.611T= (p.Val204=) c.1650T= (n.1650T=) c.445T= c.1313T= c.3773T= (p.Val1258=) c.3953T= (p.Val1318=) c.3620T= (p.Val1207=) | |
| 7 | g.117642584G>A | CA457228502 | CFTR | c.*73G>A (n.*73G>A) c.*3578G>A (n.*3578G>A) c.3681G>A (p.Val1227=) c.3864G>A (p.Val1288=) c.*517G>A (n.*517G>A) c.*525G>A (n.*525G>A) c.*2239G>A (n.*2239G>A) c.3858G>A (p.Val1286=) c.*3688G>A (n.*3688G>A) c.3438G>A (p.Val1146=) c.612G>A (p.Val204=) c.1651G>A (n.1651G>A) c.446G>A c.1314G>A c.3774G>A (p.Val1258=) c.3954G>A (p.Val1318=) c.3621G>A (p.Val1207=) | COSMIC |
| 7 | g.117642584G>C | CA457228503 | CFTR | c.*73G>C (n.*73G>C) c.*3578G>C (n.*3578G>C) c.3681G>C (p.Val1227=) c.3864G>C (p.Val1288=) c.*517G>C (n.*517G>C) c.*525G>C (n.*525G>C) c.*2239G>C (n.*2239G>C) c.3858G>C (p.Val1286=) c.*3688G>C (n.*3688G>C) c.3438G>C (p.Val1146=) c.612G>C (p.Val204=) c.1651G>C (n.1651G>C) c.446G>C c.1314G>C c.3774G>C (p.Val1258=) c.3954G>C (p.Val1318=) c.3621G>C (p.Val1207=) | |
| 7 | g.117642584G>T | CA457228505 | CFTR | c.*73G>T (n.*73G>T) c.*3578G>T (n.*3578G>T) c.3681G>T (p.Val1227=) c.3864G>T (p.Val1288=) c.*517G>T (n.*517G>T) c.*525G>T (n.*525G>T) c.*2239G>T (n.*2239G>T) c.3858G>T (p.Val1286=) c.*3688G>T (n.*3688G>T) c.3438G>T (p.Val1146=) c.612G>T (p.Val204=) c.1651G>T (n.1651G>T) c.446G>T c.1314G>T c.3774G>T (p.Val1258=) c.3954G>T (p.Val1318=) c.3621G>T (p.Val1207=) |