| 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.117642765T>C | CA1737404897 | CFTR | c.*82+172T>C (n.*82+172T>C) c.*3587+172T>C (n.*3587+172T>C) c.3690+172T>C (n.3690+172T>C) c.3874-103T>C (n.3874-103T>C) c.*526+172T>C (n.*526+172T>C) c.3873+172T>C (n.3873+172T>C) c.*534+172T>C (n.*534+172T>C) c.*2248+172T>C (n.*2248+172T>C) c.3867+172T>C (n.3867+172T>C) c.*3697+172T>C (n.*3697+172T>C) c.3447+172T>C (n.3447+172T>C) c.622-103T>C (n.622-103T>C) c.1660+172T>C (n.1660+172T>C) c.455+172T>C c.1323+172T>C c.3783+172T>C (n.3783+172T>C) c.3963+172T>C (n.3963+172T>C) c.3630+172T>C (n.3630+172T>C) | dbSNP |
| 7 | g.117642765T= | CA1737404898 | CFTR | c.*82+172T= (n.*82+172T=) c.*3587+172T= (n.*3587+172T=) c.3690+172T= (n.3690+172T=) c.3874-103T= (n.3874-103T=) c.*526+172T= (n.*526+172T=) c.3873+172T= (n.3873+172T=) c.*534+172T= (n.*534+172T=) c.*2248+172T= (n.*2248+172T=) c.3867+172T= (n.3867+172T=) c.*3697+172T= (n.*3697+172T=) c.3447+172T= (n.3447+172T=) c.622-103T= (n.622-103T=) c.1660+172T= (n.1660+172T=) c.455+172T= c.1323+172T= c.3783+172T= (n.3783+172T=) c.3963+172T= (n.3963+172T=) c.3630+172T= (n.3630+172T=) | |
| 7 | g.117642773C= | CA1737404899 | CFTR | c.*82+180C= (n.*82+180C=) c.*3587+180C= (n.*3587+180C=) c.3690+180C= (n.3690+180C=) c.3874-95C= (n.3874-95C=) c.*526+180C= (n.*526+180C=) c.3873+180C= (n.3873+180C=) c.*534+180C= (n.*534+180C=) c.*2248+180C= (n.*2248+180C=) c.3867+180C= (n.3867+180C=) c.*3697+180C= (n.*3697+180C=) c.3447+180C= (n.3447+180C=) c.622-95C= (n.622-95C=) c.1660+180C= (n.1660+180C=) c.455+180C= c.1323+180C= c.3783+180C= (n.3783+180C=) c.3963+180C= (n.3963+180C=) c.3630+180C= (n.3630+180C=) | |
| 7 | g.117642773C>T | CA164947817 | CFTR | c.*82+180C>T (n.*82+180C>T) c.*3587+180C>T (n.*3587+180C>T) c.3690+180C>T (n.3690+180C>T) c.3874-95C>T (n.3874-95C>T) c.*526+180C>T (n.*526+180C>T) c.3873+180C>T (n.3873+180C>T) c.*534+180C>T (n.*534+180C>T) c.*2248+180C>T (n.*2248+180C>T) c.3867+180C>T (n.3867+180C>T) c.*3697+180C>T (n.*3697+180C>T) c.3447+180C>T (n.3447+180C>T) c.622-95C>T (n.622-95C>T) c.1660+180C>T (n.1660+180C>T) c.455+180C>T c.1323+180C>T c.3783+180C>T (n.3783+180C>T) c.3963+180C>T (n.3963+180C>T) c.3630+180C>T (n.3630+180C>T) | dbSNP |
| 7 | g.117642774T>C | CA577224087 | CFTR | c.*82+181T>C (n.*82+181T>C) c.*3587+181T>C (n.*3587+181T>C) c.3690+181T>C (n.3690+181T>C) c.3874-94T>C (n.3874-94T>C) c.*526+181T>C (n.*526+181T>C) c.3873+181T>C (n.3873+181T>C) c.*534+181T>C (n.*534+181T>C) c.*2248+181T>C (n.*2248+181T>C) c.3867+181T>C (n.3867+181T>C) c.*3697+181T>C (n.*3697+181T>C) c.3447+181T>C (n.3447+181T>C) c.622-94T>C (n.622-94T>C) c.1660+181T>C (n.1660+181T>C) c.455+181T>C c.1323+181T>C c.3783+181T>C (n.3783+181T>C) c.3963+181T>C (n.3963+181T>C) c.3630+181T>C (n.3630+181T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642774T= | CA1737404900 | CFTR | c.*82+181T= (n.*82+181T=) c.*3587+181T= (n.*3587+181T=) c.3690+181T= (n.3690+181T=) c.3874-94T= (n.3874-94T=) c.*526+181T= (n.*526+181T=) c.3873+181T= (n.3873+181T=) c.*534+181T= (n.*534+181T=) c.*2248+181T= (n.*2248+181T=) c.3867+181T= (n.3867+181T=) c.*3697+181T= (n.*3697+181T=) c.3447+181T= (n.3447+181T=) c.622-94T= (n.622-94T=) c.1660+181T= (n.1660+181T=) c.455+181T= c.1323+181T= c.3783+181T= (n.3783+181T=) c.3963+181T= (n.3963+181T=) c.3630+181T= (n.3630+181T=) | |
| 7 | g.117642777A= | CA1737404901 | CFTR | c.*82+184A= (n.*82+184A=) c.*3587+184A= (n.*3587+184A=) c.3690+184A= (n.3690+184A=) c.3874-91A= (n.3874-91A=) c.*526+184A= (n.*526+184A=) c.3873+184A= (n.3873+184A=) c.*534+184A= (n.*534+184A=) c.*2248+184A= (n.*2248+184A=) c.3867+184A= (n.3867+184A=) c.*3697+184A= (n.*3697+184A=) c.3447+184A= (n.3447+184A=) c.622-91A= (n.622-91A=) c.1660+184A= (n.1660+184A=) c.455+184A= c.1323+184A= c.3783+184A= (n.3783+184A=) c.3963+184A= (n.3963+184A=) c.3630+184A= (n.3630+184A=) | |
| 7 | g.117642777A>G | CA1106311377 | CFTR | c.*82+184A>G (n.*82+184A>G) c.*3587+184A>G (n.*3587+184A>G) c.3690+184A>G (n.3690+184A>G) c.3874-91A>G (n.3874-91A>G) c.*526+184A>G (n.*526+184A>G) c.3873+184A>G (n.3873+184A>G) c.*534+184A>G (n.*534+184A>G) c.*2248+184A>G (n.*2248+184A>G) c.3867+184A>G (n.3867+184A>G) c.*3697+184A>G (n.*3697+184A>G) c.3447+184A>G (n.3447+184A>G) c.622-91A>G (n.622-91A>G) c.1660+184A>G (n.1660+184A>G) c.455+184A>G c.1323+184A>G c.3783+184A>G (n.3783+184A>G) c.3963+184A>G (n.3963+184A>G) c.3630+184A>G (n.3630+184A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117642778A= | CA1737404902 | CFTR | c.*82+185A= (n.*82+185A=) c.*3587+185A= (n.*3587+185A=) c.3690+185A= (n.3690+185A=) c.3874-90A= (n.3874-90A=) c.*526+185A= (n.*526+185A=) c.3873+185A= (n.3873+185A=) c.*534+185A= (n.*534+185A=) c.*2248+185A= (n.*2248+185A=) c.3867+185A= (n.3867+185A=) c.*3697+185A= (n.*3697+185A=) c.3447+185A= (n.3447+185A=) c.622-90A= (n.622-90A=) c.1660+185A= (n.1660+185A=) c.455+185A= c.1323+185A= c.3783+185A= (n.3783+185A=) c.3963+185A= (n.3963+185A=) c.3630+185A= (n.3630+185A=) | |
| 7 | g.117642778A>T | CA577224088 | CFTR | c.*82+185A>T (n.*82+185A>T) c.*3587+185A>T (n.*3587+185A>T) c.3690+185A>T (n.3690+185A>T) c.3874-90A>T (n.3874-90A>T) c.*526+185A>T (n.*526+185A>T) c.3873+185A>T (n.3873+185A>T) c.*534+185A>T (n.*534+185A>T) c.*2248+185A>T (n.*2248+185A>T) c.3867+185A>T (n.3867+185A>T) c.*3697+185A>T (n.*3697+185A>T) c.3447+185A>T (n.3447+185A>T) c.622-90A>T (n.622-90A>T) c.1660+185A>T (n.1660+185A>T) c.455+185A>T c.1323+185A>T c.3783+185A>T (n.3783+185A>T) c.3963+185A>T (n.3963+185A>T) c.3630+185A>T (n.3630+185A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642782T>C | CA1737404904 | CFTR | c.*82+189T>C (n.*82+189T>C) c.*3587+189T>C (n.*3587+189T>C) c.3690+189T>C (n.3690+189T>C) c.3874-86T>C (n.3874-86T>C) c.*526+189T>C (n.*526+189T>C) c.3873+189T>C (n.3873+189T>C) c.*534+189T>C (n.*534+189T>C) c.*2248+189T>C (n.*2248+189T>C) c.3867+189T>C (n.3867+189T>C) c.*3697+189T>C (n.*3697+189T>C) c.3447+189T>C (n.3447+189T>C) c.622-86T>C (n.622-86T>C) c.1660+189T>C (n.1660+189T>C) c.455+189T>C c.1323+189T>C c.3783+189T>C (n.3783+189T>C) c.3963+189T>C (n.3963+189T>C) c.3630+189T>C (n.3630+189T>C) | dbSNP |
| 7 | g.117642782T= | CA1737404903 | CFTR | c.*82+189T= (n.*82+189T=) c.*3587+189T= (n.*3587+189T=) c.3690+189T= (n.3690+189T=) c.3874-86T= (n.3874-86T=) c.*526+189T= (n.*526+189T=) c.3873+189T= (n.3873+189T=) c.*534+189T= (n.*534+189T=) c.*2248+189T= (n.*2248+189T=) c.3867+189T= (n.3867+189T=) c.*3697+189T= (n.*3697+189T=) c.3447+189T= (n.3447+189T=) c.622-86T= (n.622-86T=) c.1660+189T= (n.1660+189T=) c.455+189T= c.1323+189T= c.3783+189T= (n.3783+189T=) c.3963+189T= (n.3963+189T=) c.3630+189T= (n.3630+189T=) | |
| 7 | g.117642783G>A | CA1737404906 | CFTR | c.*82+190G>A (n.*82+190G>A) c.*3587+190G>A (n.*3587+190G>A) c.3690+190G>A (n.3690+190G>A) c.3874-85G>A (n.3874-85G>A) c.*526+190G>A (n.*526+190G>A) c.3873+190G>A (n.3873+190G>A) c.*534+190G>A (n.*534+190G>A) c.*2248+190G>A (n.*2248+190G>A) c.3867+190G>A (n.3867+190G>A) c.*3697+190G>A (n.*3697+190G>A) c.3447+190G>A (n.3447+190G>A) c.622-85G>A (n.622-85G>A) c.1660+190G>A (n.1660+190G>A) c.455+190G>A c.1323+190G>A c.3783+190G>A (n.3783+190G>A) c.3963+190G>A (n.3963+190G>A) c.3630+190G>A (n.3630+190G>A) | dbSNP |
| 7 | g.117642783G= | CA1737404905 | CFTR | c.*82+190G= (n.*82+190G=) c.*3587+190G= (n.*3587+190G=) c.3690+190G= (n.3690+190G=) c.3874-85G= (n.3874-85G=) c.*526+190G= (n.*526+190G=) c.3873+190G= (n.3873+190G=) c.*534+190G= (n.*534+190G=) c.*2248+190G= (n.*2248+190G=) c.3867+190G= (n.3867+190G=) c.*3697+190G= (n.*3697+190G=) c.3447+190G= (n.3447+190G=) c.622-85G= (n.622-85G=) c.1660+190G= (n.1660+190G=) c.455+190G= c.1323+190G= c.3783+190G= (n.3783+190G=) c.3963+190G= (n.3963+190G=) c.3630+190G= (n.3630+190G=) | |
| 7 | g.117642784G= | CA1737404907 | CFTR | c.*82+191G= (n.*82+191G=) c.*3587+191G= (n.*3587+191G=) c.3690+191G= (n.3690+191G=) c.3874-84G= (n.3874-84G=) c.*526+191G= (n.*526+191G=) c.3873+191G= (n.3873+191G=) c.*534+191G= (n.*534+191G=) c.*2248+191G= (n.*2248+191G=) c.3867+191G= (n.3867+191G=) c.*3697+191G= (n.*3697+191G=) c.3447+191G= (n.3447+191G=) c.622-84G= (n.622-84G=) c.1660+191G= (n.1660+191G=) c.455+191G= c.1323+191G= c.3783+191G= (n.3783+191G=) c.3963+191G= (n.3963+191G=) c.3630+191G= (n.3630+191G=) | |
| 7 | g.117642784G>T | CA1737404908 | CFTR | c.*82+191G>T (n.*82+191G>T) c.*3587+191G>T (n.*3587+191G>T) c.3690+191G>T (n.3690+191G>T) c.3874-84G>T (n.3874-84G>T) c.*526+191G>T (n.*526+191G>T) c.3873+191G>T (n.3873+191G>T) c.*534+191G>T (n.*534+191G>T) c.*2248+191G>T (n.*2248+191G>T) c.3867+191G>T (n.3867+191G>T) c.*3697+191G>T (n.*3697+191G>T) c.3447+191G>T (n.3447+191G>T) c.622-84G>T (n.622-84G>T) c.1660+191G>T (n.1660+191G>T) c.455+191G>T c.1323+191G>T c.3783+191G>T (n.3783+191G>T) c.3963+191G>T (n.3963+191G>T) c.3630+191G>T (n.3630+191G>T) | dbSNP |
| 7 | g.117642788T>C | CA1737404910 | CFTR | c.*82+195T>C (n.*82+195T>C) c.*3587+195T>C (n.*3587+195T>C) c.3690+195T>C (n.3690+195T>C) c.3874-80T>C (n.3874-80T>C) c.*526+195T>C (n.*526+195T>C) c.3873+195T>C (n.3873+195T>C) c.*534+195T>C (n.*534+195T>C) c.*2248+195T>C (n.*2248+195T>C) c.3867+195T>C (n.3867+195T>C) c.*3697+195T>C (n.*3697+195T>C) c.3447+195T>C (n.3447+195T>C) c.622-80T>C (n.622-80T>C) c.1660+195T>C (n.1660+195T>C) c.455+195T>C c.1323+195T>C c.3783+195T>C (n.3783+195T>C) c.3963+195T>C (n.3963+195T>C) c.3630+195T>C (n.3630+195T>C) | dbSNP |
| 7 | g.117642788T= | CA1737404909 | CFTR | c.*82+195T= (n.*82+195T=) c.*3587+195T= (n.*3587+195T=) c.3690+195T= (n.3690+195T=) c.3874-80T= (n.3874-80T=) c.*526+195T= (n.*526+195T=) c.3873+195T= (n.3873+195T=) c.*534+195T= (n.*534+195T=) c.*2248+195T= (n.*2248+195T=) c.3867+195T= (n.3867+195T=) c.*3697+195T= (n.*3697+195T=) c.3447+195T= (n.3447+195T=) c.622-80T= (n.622-80T=) c.1660+195T= (n.1660+195T=) c.455+195T= c.1323+195T= c.3783+195T= (n.3783+195T=) c.3963+195T= (n.3963+195T=) c.3630+195T= (n.3630+195T=) | |
| 7 | g.117642793A= | CA1737404911 | CFTR | c.*82+200A= (n.*82+200A=) c.*3587+200A= (n.*3587+200A=) c.3690+200A= (n.3690+200A=) c.3874-75A= (n.3874-75A=) c.*526+200A= (n.*526+200A=) c.3873+200A= (n.3873+200A=) c.*534+200A= (n.*534+200A=) c.*2248+200A= (n.*2248+200A=) c.3867+200A= (n.3867+200A=) c.*3697+200A= (n.*3697+200A=) c.3447+200A= (n.3447+200A=) c.622-75A= (n.622-75A=) c.1660+200A= (n.1660+200A=) c.455+200A= c.1323+200A= c.3783+200A= (n.3783+200A=) c.3963+200A= (n.3963+200A=) c.3630+200A= (n.3630+200A=) | |
| 7 | g.117642793A>G | CA164947822 | CFTR | c.*82+200A>G (n.*82+200A>G) c.*3587+200A>G (n.*3587+200A>G) c.3690+200A>G (n.3690+200A>G) c.3874-75A>G (n.3874-75A>G) c.*526+200A>G (n.*526+200A>G) c.3873+200A>G (n.3873+200A>G) c.*534+200A>G (n.*534+200A>G) c.*2248+200A>G (n.*2248+200A>G) c.3867+200A>G (n.3867+200A>G) c.*3697+200A>G (n.*3697+200A>G) c.3447+200A>G (n.3447+200A>G) c.622-75A>G (n.622-75A>G) c.1660+200A>G (n.1660+200A>G) c.455+200A>G c.1323+200A>G c.3783+200A>G (n.3783+200A>G) c.3963+200A>G (n.3963+200A>G) c.3630+200A>G (n.3630+200A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642795G>C | CA1737404914 | CFTR | c.*82+202G>C (n.*82+202G>C) c.*3587+202G>C (n.*3587+202G>C) c.3690+202G>C (n.3690+202G>C) c.3874-73G>C (n.3874-73G>C) c.*526+202G>C (n.*526+202G>C) c.3873+202G>C (n.3873+202G>C) c.*534+202G>C (n.*534+202G>C) c.*2248+202G>C (n.*2248+202G>C) c.3867+202G>C (n.3867+202G>C) c.*3697+202G>C (n.*3697+202G>C) c.3447+202G>C (n.3447+202G>C) c.622-73G>C (n.622-73G>C) c.1660+202G>C (n.1660+202G>C) c.455+202G>C c.1323+202G>C c.3783+202G>C (n.3783+202G>C) c.3963+202G>C (n.3963+202G>C) c.3630+202G>C (n.3630+202G>C) | dbSNP |
| 7 | g.117642795G= | CA1737404913 | CFTR | c.*82+202G= (n.*82+202G=) c.*3587+202G= (n.*3587+202G=) c.3690+202G= (n.3690+202G=) c.3874-73G= (n.3874-73G=) c.*526+202G= (n.*526+202G=) c.3873+202G= (n.3873+202G=) c.*534+202G= (n.*534+202G=) c.*2248+202G= (n.*2248+202G=) c.3867+202G= (n.3867+202G=) c.*3697+202G= (n.*3697+202G=) c.3447+202G= (n.3447+202G=) c.622-73G= (n.622-73G=) c.1660+202G= (n.1660+202G=) c.455+202G= c.1323+202G= c.3783+202G= (n.3783+202G=) c.3963+202G= (n.3963+202G=) c.3630+202G= (n.3630+202G=) | |
| 7 | g.117642795_117642796delinsGT | CA1737404912 | CFTR | c.*82+202_*82+203delinsGT (n.*82+202_*82+203delinsGT) c.*3587+202_*3587+203delinsGT (n.*3587+202_*3587+203delinsGT) c.3690+202_3690+203delinsGT (n.3690+202_3690+203delinsGT) c.3874-73_3874-72delinsGT (n.3874-73_3874-72delinsGT) c.*526+202_*526+203delinsGT (n.*526+202_*526+203delinsGT) c.3873+202_3873+203delinsGT (n.3873+202_3873+203delinsGT) c.*534+202_*534+203delinsGT (n.*534+202_*534+203delinsGT) c.*2248+202_*2248+203delinsGT (n.*2248+202_*2248+203delinsGT) c.3867+202_3867+203delinsGT (n.3867+202_3867+203delinsGT) c.*3697+202_*3697+203delinsGT (n.*3697+202_*3697+203delinsGT) c.3447+202_3447+203delinsGT (n.3447+202_3447+203delinsGT) c.622-73_622-72delinsGT (n.622-73_622-72delinsGT) c.1660+202_1660+203delinsGT (n.1660+202_1660+203delinsGT) c.455+202_455+203delinsGT c.1323+202_1323+203delinsGT c.3783+202_3783+203delinsGT (n.3783+202_3783+203delinsGT) c.3963+202_3963+203delinsGT (n.3963+202_3963+203delinsGT) c.3630+202_3630+203delinsGT (n.3630+202_3630+203delinsGT) | |
| 7 | g.117642797del | CA915526567 | CFTR | c.*82+204del (n.*82+204del) c.*3587+204del (n.*3587+204del) c.3690+204del (n.3690+204del) c.3874-71del (n.3874-71del) c.*526+204del (n.*526+204del) c.3873+204del (n.3873+204del) c.*534+204del (n.*534+204del) c.*2248+204del (n.*2248+204del) c.3867+204del (n.3867+204del) c.*3697+204del (n.*3697+204del) c.3447+204del (n.3447+204del) c.622-71del (n.622-71del) c.1660+204del (n.1660+204del) c.455+204del c.1323+204del c.3783+204del (n.3783+204del) c.3963+204del (n.3963+204del) c.3630+204del (n.3630+204del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642797T>C | CA2547843736 | CFTR | c.*82+204T>C (n.*82+204T>C) c.*3587+204T>C (n.*3587+204T>C) c.3690+204T>C (n.3690+204T>C) c.3874-71T>C (n.3874-71T>C) c.*526+204T>C (n.*526+204T>C) c.3873+204T>C (n.3873+204T>C) c.*534+204T>C (n.*534+204T>C) c.*2248+204T>C (n.*2248+204T>C) c.3867+204T>C (n.3867+204T>C) c.*3697+204T>C (n.*3697+204T>C) c.3447+204T>C (n.3447+204T>C) c.622-71T>C (n.622-71T>C) c.1660+204T>C (n.1660+204T>C) c.455+204T>C c.1323+204T>C c.3783+204T>C (n.3783+204T>C) c.3963+204T>C (n.3963+204T>C) c.3630+204T>C (n.3630+204T>C) | |
| 7 | g.117642798C= | CA1737404915 | CFTR | c.*82+205C= (n.*82+205C=) c.*3587+205C= (n.*3587+205C=) c.3690+205C= (n.3690+205C=) c.3874-70C= (n.3874-70C=) c.*526+205C= (n.*526+205C=) c.3873+205C= (n.3873+205C=) c.*534+205C= (n.*534+205C=) c.*2248+205C= (n.*2248+205C=) c.3867+205C= (n.3867+205C=) c.*3697+205C= (n.*3697+205C=) c.3447+205C= (n.3447+205C=) c.622-70C= (n.622-70C=) c.1660+205C= (n.1660+205C=) c.455+205C= c.1323+205C= c.3783+205C= (n.3783+205C=) c.3963+205C= (n.3963+205C=) c.3630+205C= (n.3630+205C=) | |
| 7 | g.117642798C>G | CA1106311383 | CFTR | c.*82+205C>G (n.*82+205C>G) c.*3587+205C>G (n.*3587+205C>G) c.3690+205C>G (n.3690+205C>G) c.3874-70C>G (n.3874-70C>G) c.*526+205C>G (n.*526+205C>G) c.3873+205C>G (n.3873+205C>G) c.*534+205C>G (n.*534+205C>G) c.*2248+205C>G (n.*2248+205C>G) c.3867+205C>G (n.3867+205C>G) c.*3697+205C>G (n.*3697+205C>G) c.3447+205C>G (n.3447+205C>G) c.622-70C>G (n.622-70C>G) c.1660+205C>G (n.1660+205C>G) c.455+205C>G c.1323+205C>G c.3783+205C>G (n.3783+205C>G) c.3963+205C>G (n.3963+205C>G) c.3630+205C>G (n.3630+205C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117642798C>T | CA164947824 | CFTR | c.*82+205C>T (n.*82+205C>T) c.*3587+205C>T (n.*3587+205C>T) c.3690+205C>T (n.3690+205C>T) c.3874-70C>T (n.3874-70C>T) c.*526+205C>T (n.*526+205C>T) c.3873+205C>T (n.3873+205C>T) c.*534+205C>T (n.*534+205C>T) c.*2248+205C>T (n.*2248+205C>T) c.3867+205C>T (n.3867+205C>T) c.*3697+205C>T (n.*3697+205C>T) c.3447+205C>T (n.3447+205C>T) c.622-70C>T (n.622-70C>T) c.1660+205C>T (n.1660+205C>T) c.455+205C>T c.1323+205C>T c.3783+205C>T (n.3783+205C>T) c.3963+205C>T (n.3963+205C>T) c.3630+205C>T (n.3630+205C>T) | dbSNP |
| 7 | g.117642808A>T | CA2603608495 | CFTR | c.*82+215A>T (n.*82+215A>T) c.*3587+215A>T (n.*3587+215A>T) c.3690+215A>T (n.3690+215A>T) c.3874-60A>T (n.3874-60A>T) c.*526+215A>T (n.*526+215A>T) c.3873+215A>T (n.3873+215A>T) c.*534+215A>T (n.*534+215A>T) c.*2248+215A>T (n.*2248+215A>T) c.3867+215A>T (n.3867+215A>T) c.*3697+215A>T (n.*3697+215A>T) c.3447+215A>T (n.3447+215A>T) c.622-60A>T (n.622-60A>T) c.1660+215A>T (n.1660+215A>T) c.455+215A>T c.1323+215A>T c.3783+215A>T (n.3783+215A>T) c.3963+215A>T (n.3963+215A>T) c.3630+215A>T (n.3630+215A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117642809T>A | CA832114276 | CFTR | c.*82+216T>A (n.*82+216T>A) c.*3587+216T>A (n.*3587+216T>A) c.3690+216T>A (n.3690+216T>A) c.3874-59T>A (n.3874-59T>A) c.*526+216T>A (n.*526+216T>A) c.3873+216T>A (n.3873+216T>A) c.*534+216T>A (n.*534+216T>A) c.*2248+216T>A (n.*2248+216T>A) c.3867+216T>A (n.3867+216T>A) c.*3697+216T>A (n.*3697+216T>A) c.3447+216T>A (n.3447+216T>A) c.622-59T>A (n.622-59T>A) c.1660+216T>A (n.1660+216T>A) c.455+216T>A c.1323+216T>A c.3783+216T>A (n.3783+216T>A) c.3963+216T>A (n.3963+216T>A) c.3630+216T>A (n.3630+216T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117642809T>C | CA164947825 | CFTR | c.*82+216T>C (n.*82+216T>C) c.*3587+216T>C (n.*3587+216T>C) c.3690+216T>C (n.3690+216T>C) c.3874-59T>C (n.3874-59T>C) c.*526+216T>C (n.*526+216T>C) c.3873+216T>C (n.3873+216T>C) c.*534+216T>C (n.*534+216T>C) c.*2248+216T>C (n.*2248+216T>C) c.3867+216T>C (n.3867+216T>C) c.*3697+216T>C (n.*3697+216T>C) c.3447+216T>C (n.3447+216T>C) c.622-59T>C (n.622-59T>C) c.1660+216T>C (n.1660+216T>C) c.455+216T>C c.1323+216T>C c.3783+216T>C (n.3783+216T>C) c.3963+216T>C (n.3963+216T>C) c.3630+216T>C (n.3630+216T>C) | dbSNP |
| 7 | g.117642809T= | CA1737404916 | CFTR | c.*82+216T= (n.*82+216T=) c.*3587+216T= (n.*3587+216T=) c.3690+216T= (n.3690+216T=) c.3874-59T= (n.3874-59T=) c.*526+216T= (n.*526+216T=) c.3873+216T= (n.3873+216T=) c.*534+216T= (n.*534+216T=) c.*2248+216T= (n.*2248+216T=) c.3867+216T= (n.3867+216T=) c.*3697+216T= (n.*3697+216T=) c.3447+216T= (n.3447+216T=) c.622-59T= (n.622-59T=) c.1660+216T= (n.1660+216T=) c.455+216T= c.1323+216T= c.3783+216T= (n.3783+216T=) c.3963+216T= (n.3963+216T=) c.3630+216T= (n.3630+216T=) | |
| 7 | g.117642810A= | CA1737404917 | CFTR | c.*82+217A= (n.*82+217A=) c.*3587+217A= (n.*3587+217A=) c.3690+217A= (n.3690+217A=) c.3874-58A= (n.3874-58A=) c.*526+217A= (n.*526+217A=) c.3873+217A= (n.3873+217A=) c.*534+217A= (n.*534+217A=) c.*2248+217A= (n.*2248+217A=) c.3867+217A= (n.3867+217A=) c.*3697+217A= (n.*3697+217A=) c.3447+217A= (n.3447+217A=) c.622-58A= (n.622-58A=) c.1660+217A= (n.1660+217A=) c.455+217A= c.1323+217A= c.3783+217A= (n.3783+217A=) c.3963+217A= (n.3963+217A=) c.3630+217A= (n.3630+217A=) | |
| 7 | g.117642810A>G | CA164947827 | CFTR | c.*82+217A>G (n.*82+217A>G) c.*3587+217A>G (n.*3587+217A>G) c.3690+217A>G (n.3690+217A>G) c.3874-58A>G (n.3874-58A>G) c.*526+217A>G (n.*526+217A>G) c.3873+217A>G (n.3873+217A>G) c.*534+217A>G (n.*534+217A>G) c.*2248+217A>G (n.*2248+217A>G) c.3867+217A>G (n.3867+217A>G) c.*3697+217A>G (n.*3697+217A>G) c.3447+217A>G (n.3447+217A>G) c.622-58A>G (n.622-58A>G) c.1660+217A>G (n.1660+217A>G) c.455+217A>G c.1323+217A>G c.3783+217A>G (n.3783+217A>G) c.3963+217A>G (n.3963+217A>G) c.3630+217A>G (n.3630+217A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117642811G>A | CA1737404918 | CFTR | c.*82+218G>A (n.*82+218G>A) c.*3587+218G>A (n.*3587+218G>A) c.3690+218G>A (n.3690+218G>A) c.3874-57G>A (n.3874-57G>A) c.*526+218G>A (n.*526+218G>A) c.3873+218G>A (n.3873+218G>A) c.*534+218G>A (n.*534+218G>A) c.*2248+218G>A (n.*2248+218G>A) c.3867+218G>A (n.3867+218G>A) c.*3697+218G>A (n.*3697+218G>A) c.3447+218G>A (n.3447+218G>A) c.622-57G>A (n.622-57G>A) c.1660+218G>A (n.1660+218G>A) c.455+218G>A c.1323+218G>A c.3783+218G>A (n.3783+218G>A) c.3963+218G>A (n.3963+218G>A) c.3630+218G>A (n.3630+218G>A) | dbSNP |
| 7 | g.117642811G>C | CA1106311388 | CFTR | c.*82+218G>C (n.*82+218G>C) c.*3587+218G>C (n.*3587+218G>C) c.3690+218G>C (n.3690+218G>C) c.3874-57G>C (n.3874-57G>C) c.*526+218G>C (n.*526+218G>C) c.3873+218G>C (n.3873+218G>C) c.*534+218G>C (n.*534+218G>C) c.*2248+218G>C (n.*2248+218G>C) c.3867+218G>C (n.3867+218G>C) c.*3697+218G>C (n.*3697+218G>C) c.3447+218G>C (n.3447+218G>C) c.622-57G>C (n.622-57G>C) c.1660+218G>C (n.1660+218G>C) c.455+218G>C c.1323+218G>C c.3783+218G>C (n.3783+218G>C) c.3963+218G>C (n.3963+218G>C) c.3630+218G>C (n.3630+218G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117642811G= | CA1737404920 | CFTR | c.*82+218G= (n.*82+218G=) c.*3587+218G= (n.*3587+218G=) c.3690+218G= (n.3690+218G=) c.3874-57G= (n.3874-57G=) c.*526+218G= (n.*526+218G=) c.3873+218G= (n.3873+218G=) c.*534+218G= (n.*534+218G=) c.*2248+218G= (n.*2248+218G=) c.3867+218G= (n.3867+218G=) c.*3697+218G= (n.*3697+218G=) c.3447+218G= (n.3447+218G=) c.622-57G= (n.622-57G=) c.1660+218G= (n.1660+218G=) c.455+218G= c.1323+218G= c.3783+218G= (n.3783+218G=) c.3963+218G= (n.3963+218G=) c.3630+218G= (n.3630+218G=) | |
| 7 | g.117642811G>T | CA1737404919 | CFTR | c.*82+218G>T (n.*82+218G>T) c.*3587+218G>T (n.*3587+218G>T) c.3690+218G>T (n.3690+218G>T) c.3874-57G>T (n.3874-57G>T) c.*526+218G>T (n.*526+218G>T) c.3873+218G>T (n.3873+218G>T) c.*534+218G>T (n.*534+218G>T) c.*2248+218G>T (n.*2248+218G>T) c.3867+218G>T (n.3867+218G>T) c.*3697+218G>T (n.*3697+218G>T) c.3447+218G>T (n.3447+218G>T) c.622-57G>T (n.622-57G>T) c.1660+218G>T (n.1660+218G>T) c.455+218G>T c.1323+218G>T c.3783+218G>T (n.3783+218G>T) c.3963+218G>T (n.3963+218G>T) c.3630+218G>T (n.3630+218G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117642819C= | CA1737404921 | CFTR | c.*82+226C= (n.*82+226C=) c.*3587+226C= (n.*3587+226C=) c.3690+226C= (n.3690+226C=) c.3874-49C= (n.3874-49C=) c.*526+226C= (n.*526+226C=) c.3873+226C= (n.3873+226C=) c.*534+226C= (n.*534+226C=) c.*2248+226C= (n.*2248+226C=) c.3867+226C= (n.3867+226C=) c.*3697+226C= (n.*3697+226C=) c.3447+226C= (n.3447+226C=) c.622-49C= (n.622-49C=) c.1660+226C= (n.1660+226C=) c.455+226C= c.1323+226C= c.3783+226C= (n.3783+226C=) c.3963+226C= (n.3963+226C=) c.3630+226C= (n.3630+226C=) | |
| 7 | g.117642819C>G | CA164947830 | CFTR | c.*82+226C>G (n.*82+226C>G) c.*3587+226C>G (n.*3587+226C>G) c.3690+226C>G (n.3690+226C>G) c.3874-49C>G (n.3874-49C>G) c.*526+226C>G (n.*526+226C>G) c.3873+226C>G (n.3873+226C>G) c.*534+226C>G (n.*534+226C>G) c.*2248+226C>G (n.*2248+226C>G) c.3867+226C>G (n.3867+226C>G) c.*3697+226C>G (n.*3697+226C>G) c.3447+226C>G (n.3447+226C>G) c.622-49C>G (n.622-49C>G) c.1660+226C>G (n.1660+226C>G) c.455+226C>G c.1323+226C>G c.3783+226C>G (n.3783+226C>G) c.3963+226C>G (n.3963+226C>G) c.3630+226C>G (n.3630+226C>G) | dbSNP |
| 7 | g.117642827_117642828delinsCA | CA1737404922 | CFTR | c.*82+234_*82+235delinsCA (n.*82+234_*82+235delinsCA) c.*3587+234_*3587+235delinsCA (n.*3587+234_*3587+235delinsCA) c.3690+234_3690+235delinsCA (n.3690+234_3690+235delinsCA) c.3874-41_3874-40delinsCA (n.3874-41_3874-40delinsCA) c.*526+234_*526+235delinsCA (n.*526+234_*526+235delinsCA) c.3873+234_3873+235delinsCA (n.3873+234_3873+235delinsCA) c.*534+234_*534+235delinsCA (n.*534+234_*534+235delinsCA) c.*2248+234_*2248+235delinsCA (n.*2248+234_*2248+235delinsCA) c.3867+234_3867+235delinsCA (n.3867+234_3867+235delinsCA) c.*3697+234_*3697+235delinsCA (n.*3697+234_*3697+235delinsCA) c.3447+234_3447+235delinsCA (n.3447+234_3447+235delinsCA) c.622-41_622-40delinsCA (n.622-41_622-40delinsCA) c.1660+234_1660+235delinsCA (n.1660+234_1660+235delinsCA) c.455+234_455+235delinsCA c.1323+234_1323+235delinsCA c.3783+234_3783+235delinsCA (n.3783+234_3783+235delinsCA) c.3963+234_3963+235delinsCA (n.3963+234_3963+235delinsCA) c.3630+234_3630+235delinsCA (n.3630+234_3630+235delinsCA) | |
| 7 | g.117642830del | CA832114277 | CFTR | c.*82+237del (n.*82+237del) c.*3587+237del (n.*3587+237del) c.3690+237del (n.3690+237del) c.3874-38del (n.3874-38del) c.*526+237del (n.*526+237del) c.3873+237del (n.3873+237del) c.*534+237del (n.*534+237del) c.*2248+237del (n.*2248+237del) c.3867+237del (n.3867+237del) c.*3697+237del (n.*3697+237del) c.3447+237del (n.3447+237del) c.622-38del (n.622-38del) c.1660+237del (n.1660+237del) c.455+237del c.1323+237del c.3783+237del (n.3783+237del) c.3963+237del (n.3963+237del) c.3630+237del (n.3630+237del) | dbSNP |
| 7 | g.117642828_117642829insGAATTTGAG | CA2540578824 | CFTR | c.*82+235_*82+236insGAATTTGAG (n.*82+235_*82+236insGAATTTGAG) c.*3587+235_*3587+236insGAATTTGAG (n.*3587+235_*3587+236insGAATTTGAG) c.3690+235_3690+236insGAATTTGAG (n.3690+235_3690+236insGAATTTGAG) c.3874-40_3874-39insGAATTTGAG (n.3874-40_3874-39insGAATTTGAG) c.*526+235_*526+236insGAATTTGAG (n.*526+235_*526+236insGAATTTGAG) c.3873+235_3873+236insGAATTTGAG (n.3873+235_3873+236insGAATTTGAG) c.*534+235_*534+236insGAATTTGAG (n.*534+235_*534+236insGAATTTGAG) c.*2248+235_*2248+236insGAATTTGAG (n.*2248+235_*2248+236insGAATTTGAG) c.3867+235_3867+236insGAATTTGAG (n.3867+235_3867+236insGAATTTGAG) c.*3697+235_*3697+236insGAATTTGAG (n.*3697+235_*3697+236insGAATTTGAG) c.3447+235_3447+236insGAATTTGAG (n.3447+235_3447+236insGAATTTGAG) c.622-40_622-39insGAATTTGAG (n.622-40_622-39insGAATTTGAG) c.1660+235_1660+236insGAATTTGAG (n.1660+235_1660+236insGAATTTGAG) c.455+235_455+236insGAATTTGAG c.1323+235_1323+236insGAATTTGAG c.3783+235_3783+236insGAATTTGAG (n.3783+235_3783+236insGAATTTGAG) c.3963+235_3963+236insGAATTTGAG (n.3963+235_3963+236insGAATTTGAG) c.3630+235_3630+236insGAATTTGAG (n.3630+235_3630+236insGAATTTGAG) | |
| 7 | g.117642829A= | CA1737404923 | CFTR | c.*82+236A= (n.*82+236A=) c.*3587+236A= (n.*3587+236A=) c.3690+236A= (n.3690+236A=) c.3874-39A= (n.3874-39A=) c.*526+236A= (n.*526+236A=) c.3873+236A= (n.3873+236A=) c.*534+236A= (n.*534+236A=) c.*2248+236A= (n.*2248+236A=) c.3867+236A= (n.3867+236A=) c.*3697+236A= (n.*3697+236A=) c.3447+236A= (n.3447+236A=) c.622-39A= (n.622-39A=) c.1660+236A= (n.1660+236A=) c.455+236A= c.1323+236A= c.3783+236A= (n.3783+236A=) c.3963+236A= (n.3963+236A=) c.3630+236A= (n.3630+236A=) | |
| 7 | g.117642829A>G | CA1106311393 | CFTR | c.*82+236A>G (n.*82+236A>G) c.*3587+236A>G (n.*3587+236A>G) c.3690+236A>G (n.3690+236A>G) c.3874-39A>G (n.3874-39A>G) c.*526+236A>G (n.*526+236A>G) c.3873+236A>G (n.3873+236A>G) c.*534+236A>G (n.*534+236A>G) c.*2248+236A>G (n.*2248+236A>G) c.3867+236A>G (n.3867+236A>G) c.*3697+236A>G (n.*3697+236A>G) c.3447+236A>G (n.3447+236A>G) c.622-39A>G (n.622-39A>G) c.1660+236A>G (n.1660+236A>G) c.455+236A>G c.1323+236A>G c.3783+236A>G (n.3783+236A>G) c.3963+236A>G (n.3963+236A>G) c.3630+236A>G (n.3630+236A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117642842A= | CA1737404924 | CFTR | c.*82+249A= (n.*82+249A=) c.*3587+249A= (n.*3587+249A=) c.3690+249A= (n.3690+249A=) c.3874-26A= (n.3874-26A=) c.*526+249A= (n.*526+249A=) c.3873+249A= (n.3873+249A=) c.*534+249A= (n.*534+249A=) c.*2248+249A= (n.*2248+249A=) c.3867+249A= (n.3867+249A=) c.*3697+249A= (n.*3697+249A=) c.3447+249A= (n.3447+249A=) c.622-26A= (n.622-26A=) c.1660+249A= (n.1660+249A=) c.455+249A= c.1323+249A= c.3783+249A= (n.3783+249A=) c.3963+249A= (n.3963+249A=) c.3630+249A= (n.3630+249A=) | |
| 7 | g.117642842A>G | CA577224089 | CFTR | c.*82+249A>G (n.*82+249A>G) c.*3587+249A>G (n.*3587+249A>G) c.3690+249A>G (n.3690+249A>G) c.3874-26A>G (n.3874-26A>G) c.*526+249A>G (n.*526+249A>G) c.3873+249A>G (n.3873+249A>G) c.*534+249A>G (n.*534+249A>G) c.*2248+249A>G (n.*2248+249A>G) c.3867+249A>G (n.3867+249A>G) c.*3697+249A>G (n.*3697+249A>G) c.3447+249A>G (n.3447+249A>G) c.622-26A>G (n.622-26A>G) c.1660+249A>G (n.1660+249A>G) c.455+249A>G c.1323+249A>G c.3783+249A>G (n.3783+249A>G) c.3963+249A>G (n.3963+249A>G) c.3630+249A>G (n.3630+249A>G) | dbSNP gnomAD v2 |
| 7 | g.117642842A>T | CA164947833 | CFTR | c.*82+249A>T (n.*82+249A>T) c.*3587+249A>T (n.*3587+249A>T) c.3690+249A>T (n.3690+249A>T) c.3874-26A>T (n.3874-26A>T) c.*526+249A>T (n.*526+249A>T) c.3873+249A>T (n.3873+249A>T) c.*534+249A>T (n.*534+249A>T) c.*2248+249A>T (n.*2248+249A>T) c.3867+249A>T (n.3867+249A>T) c.*3697+249A>T (n.*3697+249A>T) c.3447+249A>T (n.3447+249A>T) c.622-26A>T (n.622-26A>T) c.1660+249A>T (n.1660+249A>T) c.455+249A>T c.1323+249A>T c.3783+249A>T (n.3783+249A>T) c.3963+249A>T (n.3963+249A>T) c.3630+249A>T (n.3630+249A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642843G= | CA1737404925 | CFTR | c.*82+250G= (n.*82+250G=) c.*3587+250G= (n.*3587+250G=) c.3690+250G= (n.3690+250G=) c.3874-25G= (n.3874-25G=) c.*526+250G= (n.*526+250G=) c.3873+250G= (n.3873+250G=) c.*534+250G= (n.*534+250G=) c.*2248+250G= (n.*2248+250G=) c.3867+250G= (n.3867+250G=) c.*3697+250G= (n.*3697+250G=) c.3447+250G= (n.3447+250G=) c.622-25G= (n.622-25G=) c.1660+250G= (n.1660+250G=) c.455+250G= c.1323+250G= c.3783+250G= (n.3783+250G=) c.3963+250G= (n.3963+250G=) c.3630+250G= (n.3630+250G=) | |
| 7 | g.117642843G>T | CA164947836 | CFTR | c.*82+250G>T (n.*82+250G>T) c.*3587+250G>T (n.*3587+250G>T) c.3690+250G>T (n.3690+250G>T) c.3874-25G>T (n.3874-25G>T) c.*526+250G>T (n.*526+250G>T) c.3873+250G>T (n.3873+250G>T) c.*534+250G>T (n.*534+250G>T) c.*2248+250G>T (n.*2248+250G>T) c.3867+250G>T (n.3867+250G>T) c.*3697+250G>T (n.*3697+250G>T) c.3447+250G>T (n.3447+250G>T) c.622-25G>T (n.622-25G>T) c.1660+250G>T (n.1660+250G>T) c.455+250G>T c.1323+250G>T c.3783+250G>T (n.3783+250G>T) c.3963+250G>T (n.3963+250G>T) c.3630+250G>T (n.3630+250G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642844C= | CA1737404926 | CFTR | c.*82+251C= (n.*82+251C=) c.*3587+251C= (n.*3587+251C=) c.3690+251C= (n.3690+251C=) c.3874-24C= (n.3874-24C=) c.*526+251C= (n.*526+251C=) c.3873+251C= (n.3873+251C=) c.*534+251C= (n.*534+251C=) c.*2248+251C= (n.*2248+251C=) c.3867+251C= (n.3867+251C=) c.*3697+251C= (n.*3697+251C=) c.3447+251C= (n.3447+251C=) c.622-24C= (n.622-24C=) c.1660+251C= (n.1660+251C=) c.455+251C= c.1323+251C= c.3783+251C= (n.3783+251C=) c.3963+251C= (n.3963+251C=) c.3630+251C= (n.3630+251C=) | |
| 7 | g.117642844C>T | CA577224090 | CFTR | c.*82+251C>T (n.*82+251C>T) c.*3587+251C>T (n.*3587+251C>T) c.3690+251C>T (n.3690+251C>T) c.3874-24C>T (n.3874-24C>T) c.*526+251C>T (n.*526+251C>T) c.3873+251C>T (n.3873+251C>T) c.*534+251C>T (n.*534+251C>T) c.*2248+251C>T (n.*2248+251C>T) c.3867+251C>T (n.3867+251C>T) c.*3697+251C>T (n.*3697+251C>T) c.3447+251C>T (n.3447+251C>T) c.622-24C>T (n.622-24C>T) c.1660+251C>T (n.1660+251C>T) c.455+251C>T c.1323+251C>T c.3783+251C>T (n.3783+251C>T) c.3963+251C>T (n.3963+251C>T) c.3630+251C>T (n.3630+251C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642845C= | CA1737404927 | CFTR | c.*82+252C= (n.*82+252C=) c.*3587+252C= (n.*3587+252C=) c.3690+252C= (n.3690+252C=) c.3874-23C= (n.3874-23C=) c.*526+252C= (n.*526+252C=) c.3873+252C= (n.3873+252C=) c.*534+252C= (n.*534+252C=) c.*2248+252C= (n.*2248+252C=) c.3867+252C= (n.3867+252C=) c.*3697+252C= (n.*3697+252C=) c.3447+252C= (n.3447+252C=) c.622-23C= (n.622-23C=) c.1660+252C= (n.1660+252C=) c.455+252C= c.1323+252C= c.3783+252C= (n.3783+252C=) c.3963+252C= (n.3963+252C=) c.3630+252C= (n.3630+252C=) | |
| 7 | g.117642845C>G | CA1106311399 | CFTR | c.*82+252C>G (n.*82+252C>G) c.*3587+252C>G (n.*3587+252C>G) c.3690+252C>G (n.3690+252C>G) c.3874-23C>G (n.3874-23C>G) c.*526+252C>G (n.*526+252C>G) c.3873+252C>G (n.3873+252C>G) c.*534+252C>G (n.*534+252C>G) c.*2248+252C>G (n.*2248+252C>G) c.3867+252C>G (n.3867+252C>G) c.*3697+252C>G (n.*3697+252C>G) c.3447+252C>G (n.3447+252C>G) c.622-23C>G (n.622-23C>G) c.1660+252C>G (n.1660+252C>G) c.455+252C>G c.1323+252C>G c.3783+252C>G (n.3783+252C>G) c.3963+252C>G (n.3963+252C>G) c.3630+252C>G (n.3630+252C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117642851C= | CA1737404928 | CFTR | c.*82+258C= (n.*82+258C=) c.*3587+258C= (n.*3587+258C=) c.3690+258C= (n.3690+258C=) c.3874-17C= (n.3874-17C=) c.*526+258C= (n.*526+258C=) c.3873+258C= (n.3873+258C=) c.*534+258C= (n.*534+258C=) c.*2248+258C= (n.*2248+258C=) c.3867+258C= (n.3867+258C=) c.*3697+258C= (n.*3697+258C=) c.3447+258C= (n.3447+258C=) c.622-17C= (n.622-17C=) c.1660+258C= (n.1660+258C=) c.455+258C= c.1323+258C= c.3783+258C= (n.3783+258C=) c.3963+258C= (n.3963+258C=) c.3630+258C= (n.3630+258C=) | |
| 7 | g.117642851C>T | CA577224091 | CFTR | c.*82+258C>T (n.*82+258C>T) c.*3587+258C>T (n.*3587+258C>T) c.3690+258C>T (n.3690+258C>T) c.3874-17C>T (n.3874-17C>T) c.*526+258C>T (n.*526+258C>T) c.3873+258C>T (n.3873+258C>T) c.*534+258C>T (n.*534+258C>T) c.*2248+258C>T (n.*2248+258C>T) c.3867+258C>T (n.3867+258C>T) c.*3697+258C>T (n.*3697+258C>T) c.3447+258C>T (n.3447+258C>T) c.622-17C>T (n.622-17C>T) c.1660+258C>T (n.1660+258C>T) c.455+258C>T c.1323+258C>T c.3783+258C>T (n.3783+258C>T) c.3963+258C>T (n.3963+258C>T) c.3630+258C>T (n.3630+258C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642851_117642853delinsCTT | CA1737404929 | CFTR | c.*82+258_*82+260delinsCTT (n.*82+258_*82+260delinsCTT) c.*3587+258_*3587+260delinsCTT (n.*3587+258_*3587+260delinsCTT) c.3690+258_3690+260delinsCTT (n.3690+258_3690+260delinsCTT) c.3874-17_3874-15delinsCTT (n.3874-17_3874-15delinsCTT) c.*526+258_*526+260delinsCTT (n.*526+258_*526+260delinsCTT) c.3873+258_3873+260delinsCTT (n.3873+258_3873+260delinsCTT) c.*534+258_*534+260delinsCTT (n.*534+258_*534+260delinsCTT) c.*2248+258_*2248+260delinsCTT (n.*2248+258_*2248+260delinsCTT) c.3867+258_3867+260delinsCTT (n.3867+258_3867+260delinsCTT) c.*3697+258_*3697+260delinsCTT (n.*3697+258_*3697+260delinsCTT) c.3447+258_3447+260delinsCTT (n.3447+258_3447+260delinsCTT) c.622-17_622-15delinsCTT (n.622-17_622-15delinsCTT) c.1660+258_1660+260delinsCTT (n.1660+258_1660+260delinsCTT) c.455+258_455+260delinsCTT c.1323+258_1323+260delinsCTT c.3783+258_3783+260delinsCTT (n.3783+258_3783+260delinsCTT) c.3963+258_3963+260delinsCTT (n.3963+258_3963+260delinsCTT) c.3630+258_3630+260delinsCTT (n.3630+258_3630+260delinsCTT) | |
| 7 | g.117642854_117642855del | CA1106311404 | CFTR | c.*82+261_*82+262del (n.*82+261_*82+262del) c.*3587+261_*3587+262del (n.*3587+261_*3587+262del) c.3690+261_3690+262del (n.3690+261_3690+262del) c.3874-14_3874-13del (n.3874-14_3874-13del) c.*526+261_*526+262del (n.*526+261_*526+262del) c.3873+261_3873+262del (n.3873+261_3873+262del) c.*534+261_*534+262del (n.*534+261_*534+262del) c.*2248+261_*2248+262del (n.*2248+261_*2248+262del) c.3867+261_3867+262del (n.3867+261_3867+262del) c.*3697+261_*3697+262del (n.*3697+261_*3697+262del) c.3447+261_3447+262del (n.3447+261_3447+262del) c.622-14_622-13del (n.622-14_622-13del) c.1660+261_1660+262del (n.1660+261_1660+262del) c.455+261_455+262del c.1323+261_1323+262del c.3783+261_3783+262del (n.3783+261_3783+262del) c.3963+261_3963+262del (n.3963+261_3963+262del) c.3630+261_3630+262del (n.3630+261_3630+262del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117642854T>C | CA2603608496 | CFTR | c.*82+261T>C (n.*82+261T>C) c.*3587+261T>C (n.*3587+261T>C) c.3690+261T>C (n.3690+261T>C) c.3874-14T>C (n.3874-14T>C) c.*526+261T>C (n.*526+261T>C) c.3873+261T>C (n.3873+261T>C) c.*534+261T>C (n.*534+261T>C) c.*2248+261T>C (n.*2248+261T>C) c.3867+261T>C (n.3867+261T>C) c.*3697+261T>C (n.*3697+261T>C) c.3447+261T>C (n.3447+261T>C) c.622-14T>C (n.622-14T>C) c.1660+261T>C (n.1660+261T>C) c.455+261T>C c.1323+261T>C c.3783+261T>C (n.3783+261T>C) c.3963+261T>C (n.3963+261T>C) c.3630+261T>C (n.3630+261T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117642856G>A | CA832114281 | CFTR | c.*82+263G>A (n.*82+263G>A) c.*3587+263G>A (n.*3587+263G>A) c.3690+263G>A (n.3690+263G>A) c.3874-12G>A (n.3874-12G>A) c.*526+263G>A (n.*526+263G>A) c.3873+263G>A (n.3873+263G>A) c.*534+263G>A (n.*534+263G>A) c.*2248+263G>A (n.*2248+263G>A) c.3867+263G>A (n.3867+263G>A) c.*3697+263G>A (n.*3697+263G>A) c.3447+263G>A (n.3447+263G>A) c.622-12G>A (n.622-12G>A) c.1660+263G>A (n.1660+263G>A) c.455+263G>A c.1323+263G>A c.3783+263G>A (n.3783+263G>A) c.3963+263G>A (n.3963+263G>A) c.3630+263G>A (n.3630+263G>A) | dbSNP |
| 7 | g.117642856G>C | CA577224092 | CFTR | c.*82+263G>C (n.*82+263G>C) c.*3587+263G>C (n.*3587+263G>C) c.3690+263G>C (n.3690+263G>C) c.3874-12G>C (n.3874-12G>C) c.*526+263G>C (n.*526+263G>C) c.3873+263G>C (n.3873+263G>C) c.*534+263G>C (n.*534+263G>C) c.*2248+263G>C (n.*2248+263G>C) c.3867+263G>C (n.3867+263G>C) c.*3697+263G>C (n.*3697+263G>C) c.3447+263G>C (n.3447+263G>C) c.622-12G>C (n.622-12G>C) c.1660+263G>C (n.1660+263G>C) c.455+263G>C c.1323+263G>C c.3783+263G>C (n.3783+263G>C) c.3963+263G>C (n.3963+263G>C) c.3630+263G>C (n.3630+263G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642856G= | CA1737404930 | CFTR | c.*82+263G= (n.*82+263G=) c.*3587+263G= (n.*3587+263G=) c.3690+263G= (n.3690+263G=) c.3874-12G= (n.3874-12G=) c.*526+263G= (n.*526+263G=) c.3873+263G= (n.3873+263G=) c.*534+263G= (n.*534+263G=) c.*2248+263G= (n.*2248+263G=) c.3867+263G= (n.3867+263G=) c.*3697+263G= (n.*3697+263G=) c.3447+263G= (n.3447+263G=) c.622-12G= (n.622-12G=) c.1660+263G= (n.1660+263G=) c.455+263G= c.1323+263G= c.3783+263G= (n.3783+263G=) c.3963+263G= (n.3963+263G=) c.3630+263G= (n.3630+263G=) | |
| 7 | g.117642859T>C | CA164947841 | CFTR | c.*82+266T>C (n.*82+266T>C) c.*3587+266T>C (n.*3587+266T>C) c.3690+266T>C (n.3690+266T>C) c.3874-9T>C (n.3874-9T>C) c.*526+266T>C (n.*526+266T>C) c.3873+266T>C (n.3873+266T>C) c.*534+266T>C (n.*534+266T>C) c.*2248+266T>C (n.*2248+266T>C) c.3867+266T>C (n.3867+266T>C) c.*3697+266T>C (n.*3697+266T>C) c.3447+266T>C (n.3447+266T>C) c.622-9T>C (n.622-9T>C) c.1660+266T>C (n.1660+266T>C) c.455+266T>C c.1323+266T>C c.3783+266T>C (n.3783+266T>C) c.3963+266T>C (n.3963+266T>C) c.3630+266T>C (n.3630+266T>C) | dbSNP |
| 7 | g.117642859T= | CA1737404931 | CFTR | c.*82+266T= (n.*82+266T=) c.*3587+266T= (n.*3587+266T=) c.3690+266T= (n.3690+266T=) c.3874-9T= (n.3874-9T=) c.*526+266T= (n.*526+266T=) c.3873+266T= (n.3873+266T=) c.*534+266T= (n.*534+266T=) c.*2248+266T= (n.*2248+266T=) c.3867+266T= (n.3867+266T=) c.*3697+266T= (n.*3697+266T=) c.3447+266T= (n.3447+266T=) c.622-9T= (n.622-9T=) c.1660+266T= (n.1660+266T=) c.455+266T= c.1323+266T= c.3783+266T= (n.3783+266T=) c.3963+266T= (n.3963+266T=) c.3630+266T= (n.3630+266T=) |