| 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.117642595T>A | CA368975670 | CFTR | c.*82+2T>A (n.*82+2T>A) c.*3587+2T>A (n.*3587+2T>A) c.3690+2T>A (n.3690+2T>A) c.3873+2T>A (n.3873+2T>A) c.*526+2T>A (n.*526+2T>A) c.*534+2T>A (n.*534+2T>A) c.*2248+2T>A (n.*2248+2T>A) c.3867+2T>A (n.3867+2T>A) c.*3697+2T>A (n.*3697+2T>A) c.3447+2T>A (n.3447+2T>A) c.621+2T>A (n.621+2T>A) c.1660+2T>A (n.1660+2T>A) c.455+2T>A c.1323+2T>A c.3783+2T>A (n.3783+2T>A) c.3963+2T>A (n.3963+2T>A) c.3630+2T>A (n.3630+2T>A) | |
| 7 | g.117642595T>C | CA327317 | CFTR | c.*82+2T>C (n.*82+2T>C) c.*3587+2T>C (n.*3587+2T>C) c.3690+2T>C (n.3690+2T>C) c.3873+2T>C (n.3873+2T>C) c.*526+2T>C (n.*526+2T>C) c.*534+2T>C (n.*534+2T>C) c.*2248+2T>C (n.*2248+2T>C) c.3867+2T>C (n.3867+2T>C) c.*3697+2T>C (n.*3697+2T>C) c.3447+2T>C (n.3447+2T>C) c.621+2T>C (n.621+2T>C) c.1660+2T>C (n.1660+2T>C) c.455+2T>C c.1323+2T>C c.3783+2T>C (n.3783+2T>C) c.3963+2T>C (n.3963+2T>C) c.3630+2T>C (n.3630+2T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117642595T>G | CA368975673 | CFTR | c.*82+2T>G (n.*82+2T>G) c.*3587+2T>G (n.*3587+2T>G) c.3690+2T>G (n.3690+2T>G) c.3873+2T>G (n.3873+2T>G) c.*526+2T>G (n.*526+2T>G) c.*534+2T>G (n.*534+2T>G) c.*2248+2T>G (n.*2248+2T>G) c.3867+2T>G (n.3867+2T>G) c.*3697+2T>G (n.*3697+2T>G) c.3447+2T>G (n.3447+2T>G) c.621+2T>G (n.621+2T>G) c.1660+2T>G (n.1660+2T>G) c.455+2T>G c.1323+2T>G c.3783+2T>G (n.3783+2T>G) c.3963+2T>G (n.3963+2T>G) c.3630+2T>G (n.3630+2T>G) | |
| 7 | g.117642595T= | CA1737404824 | CFTR | c.*82+2T= (n.*82+2T=) c.*3587+2T= (n.*3587+2T=) c.3690+2T= (n.3690+2T=) c.3873+2T= (n.3873+2T=) c.*526+2T= (n.*526+2T=) c.*534+2T= (n.*534+2T=) c.*2248+2T= (n.*2248+2T=) c.3867+2T= (n.3867+2T=) c.*3697+2T= (n.*3697+2T=) c.3447+2T= (n.3447+2T=) c.621+2T= (n.621+2T=) c.1660+2T= (n.1660+2T=) c.455+2T= c.1323+2T= c.3783+2T= (n.3783+2T=) c.3963+2T= (n.3963+2T=) c.3630+2T= (n.3630+2T=) | |
| 7 | g.117642596G>A | CA1737404826 | CFTR | c.*82+3G>A (n.*82+3G>A) c.*3587+3G>A (n.*3587+3G>A) c.3690+3G>A (n.3690+3G>A) c.3873+3G>A (n.3873+3G>A) c.*526+3G>A (n.*526+3G>A) c.*534+3G>A (n.*534+3G>A) c.*2248+3G>A (n.*2248+3G>A) c.3867+3G>A (n.3867+3G>A) c.*3697+3G>A (n.*3697+3G>A) c.3447+3G>A (n.3447+3G>A) c.621+3G>A (n.621+3G>A) c.1660+3G>A (n.1660+3G>A) c.455+3G>A c.1323+3G>A c.3783+3G>A (n.3783+3G>A) c.3963+3G>A (n.3963+3G>A) c.3630+3G>A (n.3630+3G>A) | dbSNP gnomAD v4 |
| 7 | g.117642596G= | CA1737404825 | CFTR | c.*82+3G= (n.*82+3G=) c.*3587+3G= (n.*3587+3G=) c.3690+3G= (n.3690+3G=) c.3873+3G= (n.3873+3G=) c.*526+3G= (n.*526+3G=) c.*534+3G= (n.*534+3G=) c.*2248+3G= (n.*2248+3G=) c.3867+3G= (n.3867+3G=) c.*3697+3G= (n.*3697+3G=) c.3447+3G= (n.3447+3G=) c.621+3G= (n.621+3G=) c.1660+3G= (n.1660+3G=) c.455+3G= c.1323+3G= c.3783+3G= (n.3783+3G=) c.3963+3G= (n.3963+3G=) c.3630+3G= (n.3630+3G=) | |
| 7 | g.117642596G>T | CA577224066 | CFTR | c.*82+3G>T (n.*82+3G>T) c.*3587+3G>T (n.*3587+3G>T) c.3690+3G>T (n.3690+3G>T) c.3873+3G>T (n.3873+3G>T) c.*526+3G>T (n.*526+3G>T) c.*534+3G>T (n.*534+3G>T) c.*2248+3G>T (n.*2248+3G>T) c.3867+3G>T (n.3867+3G>T) c.*3697+3G>T (n.*3697+3G>T) c.3447+3G>T (n.3447+3G>T) c.621+3G>T (n.621+3G>T) c.1660+3G>T (n.1660+3G>T) c.455+3G>T c.1323+3G>T c.3783+3G>T (n.3783+3G>T) c.3963+3G>T (n.3963+3G>T) c.3630+3G>T (n.3630+3G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117642598G>A | CA2580076364 | CFTR | c.*82+5G>A (n.*82+5G>A) c.*3587+5G>A (n.*3587+5G>A) c.3690+5G>A (n.3690+5G>A) c.3873+5G>A (n.3873+5G>A) c.*526+5G>A (n.*526+5G>A) c.*534+5G>A (n.*534+5G>A) c.*2248+5G>A (n.*2248+5G>A) c.3867+5G>A (n.3867+5G>A) c.*3697+5G>A (n.*3697+5G>A) c.3447+5G>A (n.3447+5G>A) c.621+5G>A (n.621+5G>A) c.1660+5G>A (n.1660+5G>A) c.455+5G>A c.1323+5G>A c.3783+5G>A (n.3783+5G>A) c.3963+5G>A (n.3963+5G>A) c.3630+5G>A (n.3630+5G>A) | ClinVar |
| 7 | g.117642599C>A | CA577224067 | CFTR | c.*82+6C>A (n.*82+6C>A) c.*3587+6C>A (n.*3587+6C>A) c.3690+6C>A (n.3690+6C>A) c.3873+6C>A (n.3873+6C>A) c.*526+6C>A (n.*526+6C>A) c.*534+6C>A (n.*534+6C>A) c.*2248+6C>A (n.*2248+6C>A) c.3867+6C>A (n.3867+6C>A) c.*3697+6C>A (n.*3697+6C>A) c.3447+6C>A (n.3447+6C>A) c.621+6C>A (n.621+6C>A) c.1660+6C>A (n.1660+6C>A) c.455+6C>A c.1323+6C>A c.3783+6C>A (n.3783+6C>A) c.3963+6C>A (n.3963+6C>A) c.3630+6C>A (n.3630+6C>A) | dbSNP gnomAD v2 |
| 7 | g.117642599C= | CA1737404827 | CFTR | c.*82+6C= (n.*82+6C=) c.*3587+6C= (n.*3587+6C=) c.3690+6C= (n.3690+6C=) c.3873+6C= (n.3873+6C=) c.*526+6C= (n.*526+6C=) c.*534+6C= (n.*534+6C=) c.*2248+6C= (n.*2248+6C=) c.3867+6C= (n.3867+6C=) c.*3697+6C= (n.*3697+6C=) c.3447+6C= (n.3447+6C=) c.621+6C= (n.621+6C=) c.1660+6C= (n.1660+6C=) c.455+6C= c.1323+6C= c.3783+6C= (n.3783+6C=) c.3963+6C= (n.3963+6C=) c.3630+6C= (n.3630+6C=) | |
| 7 | g.117642600A= | CA1737404828 | CFTR | c.*82+7A= (n.*82+7A=) c.*3587+7A= (n.*3587+7A=) c.3690+7A= (n.3690+7A=) c.3873+7A= (n.3873+7A=) c.*526+7A= (n.*526+7A=) c.*534+7A= (n.*534+7A=) c.*2248+7A= (n.*2248+7A=) c.3867+7A= (n.3867+7A=) c.*3697+7A= (n.*3697+7A=) c.3447+7A= (n.3447+7A=) c.621+7A= (n.621+7A=) c.1660+7A= (n.1660+7A=) c.455+7A= c.1323+7A= c.3783+7A= (n.3783+7A=) c.3963+7A= (n.3963+7A=) c.3630+7A= (n.3630+7A=) | |
| 7 | g.117642600A>G | CA164947718 | CFTR | c.*82+7A>G (n.*82+7A>G) c.*3587+7A>G (n.*3587+7A>G) c.3690+7A>G (n.3690+7A>G) c.3873+7A>G (n.3873+7A>G) c.*526+7A>G (n.*526+7A>G) c.*534+7A>G (n.*534+7A>G) c.*2248+7A>G (n.*2248+7A>G) c.3867+7A>G (n.3867+7A>G) c.*3697+7A>G (n.*3697+7A>G) c.3447+7A>G (n.3447+7A>G) c.621+7A>G (n.621+7A>G) c.1660+7A>G (n.1660+7A>G) c.455+7A>G c.1323+7A>G c.3783+7A>G (n.3783+7A>G) c.3963+7A>G (n.3963+7A>G) c.3630+7A>G (n.3630+7A>G) | dbSNP |
| 7 | g.117642600A>T | CA4451562 | CFTR | c.*82+7A>T (n.*82+7A>T) c.*3587+7A>T (n.*3587+7A>T) c.3690+7A>T (n.3690+7A>T) c.3873+7A>T (n.3873+7A>T) c.*526+7A>T (n.*526+7A>T) c.*534+7A>T (n.*534+7A>T) c.*2248+7A>T (n.*2248+7A>T) c.3867+7A>T (n.3867+7A>T) c.*3697+7A>T (n.*3697+7A>T) c.3447+7A>T (n.3447+7A>T) c.621+7A>T (n.621+7A>T) c.1660+7A>T (n.1660+7A>T) c.455+7A>T c.1323+7A>T c.3783+7A>T (n.3783+7A>T) c.3963+7A>T (n.3963+7A>T) c.3630+7A>T (n.3630+7A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642602A= | CA1737404829 | CFTR | c.*82+9A= (n.*82+9A=) c.*3587+9A= (n.*3587+9A=) c.3690+9A= (n.3690+9A=) c.3873+9A= (n.3873+9A=) c.*526+9A= (n.*526+9A=) c.*534+9A= (n.*534+9A=) c.*2248+9A= (n.*2248+9A=) c.3867+9A= (n.3867+9A=) c.*3697+9A= (n.*3697+9A=) c.3447+9A= (n.3447+9A=) c.621+9A= (n.621+9A=) c.1660+9A= (n.1660+9A=) c.455+9A= c.1323+9A= c.3783+9A= (n.3783+9A=) c.3963+9A= (n.3963+9A=) c.3630+9A= (n.3630+9A=) | |
| 7 | g.117642602A>C | CA4451563 | CFTR | c.*82+9A>C (n.*82+9A>C) c.*3587+9A>C (n.*3587+9A>C) c.3690+9A>C (n.3690+9A>C) c.3873+9A>C (n.3873+9A>C) c.*526+9A>C (n.*526+9A>C) c.*534+9A>C (n.*534+9A>C) c.*2248+9A>C (n.*2248+9A>C) c.3867+9A>C (n.3867+9A>C) c.*3697+9A>C (n.*3697+9A>C) c.3447+9A>C (n.3447+9A>C) c.621+9A>C (n.621+9A>C) c.1660+9A>C (n.1660+9A>C) c.455+9A>C c.1323+9A>C c.3783+9A>C (n.3783+9A>C) c.3963+9A>C (n.3963+9A>C) c.3630+9A>C (n.3630+9A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117642602A>G | CA577224068 | CFTR | c.*82+9A>G (n.*82+9A>G) c.*3587+9A>G (n.*3587+9A>G) c.3690+9A>G (n.3690+9A>G) c.3873+9A>G (n.3873+9A>G) c.*526+9A>G (n.*526+9A>G) c.*534+9A>G (n.*534+9A>G) c.*2248+9A>G (n.*2248+9A>G) c.3867+9A>G (n.3867+9A>G) c.*3697+9A>G (n.*3697+9A>G) c.3447+9A>G (n.3447+9A>G) c.621+9A>G (n.621+9A>G) c.1660+9A>G (n.1660+9A>G) c.455+9A>G c.1323+9A>G c.3783+9A>G (n.3783+9A>G) c.3963+9A>G (n.3963+9A>G) c.3630+9A>G (n.3630+9A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642603A= | CA1737404830 | CFTR | c.*82+10A= (n.*82+10A=) c.*3587+10A= (n.*3587+10A=) c.3690+10A= (n.3690+10A=) c.3873+10A= (n.3873+10A=) c.*526+10A= (n.*526+10A=) c.*534+10A= (n.*534+10A=) c.*2248+10A= (n.*2248+10A=) c.3867+10A= (n.3867+10A=) c.*3697+10A= (n.*3697+10A=) c.3447+10A= (n.3447+10A=) c.621+10A= (n.621+10A=) c.1660+10A= (n.1660+10A=) c.455+10A= c.1323+10A= c.3783+10A= (n.3783+10A=) c.3963+10A= (n.3963+10A=) c.3630+10A= (n.3630+10A=) | |
| 7 | g.117642603A>G | CA915945449 | CFTR | c.*82+10A>G (n.*82+10A>G) c.*3587+10A>G (n.*3587+10A>G) c.3690+10A>G (n.3690+10A>G) c.3873+10A>G (n.3873+10A>G) c.*526+10A>G (n.*526+10A>G) c.*534+10A>G (n.*534+10A>G) c.*2248+10A>G (n.*2248+10A>G) c.3867+10A>G (n.3867+10A>G) c.*3697+10A>G (n.*3697+10A>G) c.3447+10A>G (n.3447+10A>G) c.621+10A>G (n.621+10A>G) c.1660+10A>G (n.1660+10A>G) c.455+10A>G c.1323+10A>G c.3783+10A>G (n.3783+10A>G) c.3963+10A>G (n.3963+10A>G) c.3630+10A>G (n.3630+10A>G) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117642605G>A | CA2684620473 | CFTR | c.*82+12G>A (n.*82+12G>A) c.*3587+12G>A (n.*3587+12G>A) c.3690+12G>A (n.3690+12G>A) c.3873+12G>A (n.3873+12G>A) c.*526+12G>A (n.*526+12G>A) c.*534+12G>A (n.*534+12G>A) c.*2248+12G>A (n.*2248+12G>A) c.3867+12G>A (n.3867+12G>A) c.*3697+12G>A (n.*3697+12G>A) c.3447+12G>A (n.3447+12G>A) c.621+12G>A (n.621+12G>A) c.1660+12G>A (n.1660+12G>A) c.455+12G>A c.1323+12G>A c.3783+12G>A (n.3783+12G>A) c.3963+12G>A (n.3963+12G>A) c.3630+12G>A (n.3630+12G>A) | gnomAD v4 |
| 7 | g.117642605G>C | CA1139660070 | CFTR | c.*82+12G>C (n.*82+12G>C) c.*3587+12G>C (n.*3587+12G>C) c.3690+12G>C (n.3690+12G>C) c.3873+12G>C (n.3873+12G>C) c.*526+12G>C (n.*526+12G>C) c.*534+12G>C (n.*534+12G>C) c.*2248+12G>C (n.*2248+12G>C) c.3867+12G>C (n.3867+12G>C) c.*3697+12G>C (n.*3697+12G>C) c.3447+12G>C (n.3447+12G>C) c.621+12G>C (n.621+12G>C) c.1660+12G>C (n.1660+12G>C) c.455+12G>C c.1323+12G>C c.3783+12G>C (n.3783+12G>C) c.3963+12G>C (n.3963+12G>C) c.3630+12G>C (n.3630+12G>C) | ClinVar dbSNP |
| 7 | g.117642605G= | CA1737404831 | CFTR | c.*82+12G= (n.*82+12G=) c.*3587+12G= (n.*3587+12G=) c.3690+12G= (n.3690+12G=) c.3873+12G= (n.3873+12G=) c.*526+12G= (n.*526+12G=) c.*534+12G= (n.*534+12G=) c.*2248+12G= (n.*2248+12G=) c.3867+12G= (n.3867+12G=) c.*3697+12G= (n.*3697+12G=) c.3447+12G= (n.3447+12G=) c.621+12G= (n.621+12G=) c.1660+12G= (n.1660+12G=) c.455+12G= c.1323+12G= c.3783+12G= (n.3783+12G=) c.3963+12G= (n.3963+12G=) c.3630+12G= (n.3630+12G=) | |
| 7 | g.117642607C>G | CA2684620474 | CFTR | c.*82+14C>G (n.*82+14C>G) c.*3587+14C>G (n.*3587+14C>G) c.3690+14C>G (n.3690+14C>G) c.3873+14C>G (n.3873+14C>G) c.*526+14C>G (n.*526+14C>G) c.*534+14C>G (n.*534+14C>G) c.*2248+14C>G (n.*2248+14C>G) c.3867+14C>G (n.3867+14C>G) c.*3697+14C>G (n.*3697+14C>G) c.3447+14C>G (n.3447+14C>G) c.621+14C>G (n.621+14C>G) c.1660+14C>G (n.1660+14C>G) c.455+14C>G c.1323+14C>G c.3783+14C>G (n.3783+14C>G) c.3963+14C>G (n.3963+14C>G) c.3630+14C>G (n.3630+14C>G) | gnomAD v4 |
| 7 | g.117642607_117642613del | CA1106311305 | CFTR | c.*82+14_*82+20del (n.*82+14_*82+20del) c.*3587+14_*3587+20del (n.*3587+14_*3587+20del) c.3690+14_3690+20del (n.3690+14_3690+20del) c.3873+14_3873+20del (n.3873+14_3873+20del) c.*526+14_*526+20del (n.*526+14_*526+20del) c.*534+14_*534+20del (n.*534+14_*534+20del) c.*2248+14_*2248+20del (n.*2248+14_*2248+20del) c.3867+14_3867+20del (n.3867+14_3867+20del) c.*3697+14_*3697+20del (n.*3697+14_*3697+20del) c.3447+14_3447+20del (n.3447+14_3447+20del) c.621+14_621+20del (n.621+14_621+20del) c.1660+14_1660+20del (n.1660+14_1660+20del) c.455+14_455+20del c.1323+14_1323+20del c.3783+14_3783+20del (n.3783+14_3783+20del) c.3963+14_3963+20del (n.3963+14_3963+20del) c.3630+14_3630+20del (n.3630+14_3630+20del) | gnomAD v3 gnomAD v4 |
| 7 | g.117642608T>G | CA164947741 | CFTR | c.*82+15T>G (n.*82+15T>G) c.*3587+15T>G (n.*3587+15T>G) c.3690+15T>G (n.3690+15T>G) c.3873+15T>G (n.3873+15T>G) c.*526+15T>G (n.*526+15T>G) c.*534+15T>G (n.*534+15T>G) c.*2248+15T>G (n.*2248+15T>G) c.3867+15T>G (n.3867+15T>G) c.*3697+15T>G (n.*3697+15T>G) c.3447+15T>G (n.3447+15T>G) c.621+15T>G (n.621+15T>G) c.1660+15T>G (n.1660+15T>G) c.455+15T>G c.1323+15T>G c.3783+15T>G (n.3783+15T>G) c.3963+15T>G (n.3963+15T>G) c.3630+15T>G (n.3630+15T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642608T= | CA1737404832 | CFTR | c.*82+15T= (n.*82+15T=) c.*3587+15T= (n.*3587+15T=) c.3690+15T= (n.3690+15T=) c.3873+15T= (n.3873+15T=) c.*526+15T= (n.*526+15T=) c.*534+15T= (n.*534+15T=) c.*2248+15T= (n.*2248+15T=) c.3867+15T= (n.3867+15T=) c.*3697+15T= (n.*3697+15T=) c.3447+15T= (n.3447+15T=) c.621+15T= (n.621+15T=) c.1660+15T= (n.1660+15T=) c.455+15T= c.1323+15T= c.3783+15T= (n.3783+15T=) c.3963+15T= (n.3963+15T=) c.3630+15T= (n.3630+15T=) | |
| 7 | g.117642609dup | CA2684620475 | CFTR | c.*82+16dup (n.*82+16dup) c.*3587+16dup (n.*3587+16dup) c.3690+16dup (n.3690+16dup) c.3873+16dup (n.3873+16dup) c.*526+16dup (n.*526+16dup) c.*534+16dup (n.*534+16dup) c.*2248+16dup (n.*2248+16dup) c.3867+16dup (n.3867+16dup) c.*3697+16dup (n.*3697+16dup) c.3447+16dup (n.3447+16dup) c.621+16dup (n.621+16dup) c.1660+16dup (n.1660+16dup) c.455+16dup c.1323+16dup c.3783+16dup (n.3783+16dup) c.3963+16dup (n.3963+16dup) c.3630+16dup (n.3630+16dup) | gnomAD v4 |
| 7 | g.117642611G>A | CA2684620476 | CFTR | c.*82+18G>A (n.*82+18G>A) c.*3587+18G>A (n.*3587+18G>A) c.3690+18G>A (n.3690+18G>A) c.3873+18G>A (n.3873+18G>A) c.*526+18G>A (n.*526+18G>A) c.*534+18G>A (n.*534+18G>A) c.*2248+18G>A (n.*2248+18G>A) c.3867+18G>A (n.3867+18G>A) c.*3697+18G>A (n.*3697+18G>A) c.3447+18G>A (n.3447+18G>A) c.621+18G>A (n.621+18G>A) c.1660+18G>A (n.1660+18G>A) c.455+18G>A c.1323+18G>A c.3783+18G>A (n.3783+18G>A) c.3963+18G>A (n.3963+18G>A) c.3630+18G>A (n.3630+18G>A) | ClinVar gnomAD v4 |
| 7 | g.117642612C>T | CA2684620477 | CFTR | c.*82+19C>T (n.*82+19C>T) c.*3587+19C>T (n.*3587+19C>T) c.3690+19C>T (n.3690+19C>T) c.3873+19C>T (n.3873+19C>T) c.*526+19C>T (n.*526+19C>T) c.*534+19C>T (n.*534+19C>T) c.*2248+19C>T (n.*2248+19C>T) c.3867+19C>T (n.3867+19C>T) c.*3697+19C>T (n.*3697+19C>T) c.3447+19C>T (n.3447+19C>T) c.621+19C>T (n.621+19C>T) c.1660+19C>T (n.1660+19C>T) c.455+19C>T c.1323+19C>T c.3783+19C>T (n.3783+19C>T) c.3963+19C>T (n.3963+19C>T) c.3630+19C>T (n.3630+19C>T) | gnomAD v4 |
| 7 | g.117642613C= | CA1737404833 | CFTR | c.*82+20C= (n.*82+20C=) c.*3587+20C= (n.*3587+20C=) c.3690+20C= (n.3690+20C=) c.3873+20C= (n.3873+20C=) c.*526+20C= (n.*526+20C=) c.*534+20C= (n.*534+20C=) c.*2248+20C= (n.*2248+20C=) c.3867+20C= (n.3867+20C=) c.*3697+20C= (n.*3697+20C=) c.3447+20C= (n.3447+20C=) c.621+20C= (n.621+20C=) c.1660+20C= (n.1660+20C=) c.455+20C= c.1323+20C= c.3783+20C= (n.3783+20C=) c.3963+20C= (n.3963+20C=) c.3630+20C= (n.3630+20C=) | |
| 7 | g.117642613C>T | CA577224070 | CFTR | c.*82+20C>T (n.*82+20C>T) c.*3587+20C>T (n.*3587+20C>T) c.3690+20C>T (n.3690+20C>T) c.3873+20C>T (n.3873+20C>T) c.*526+20C>T (n.*526+20C>T) c.*534+20C>T (n.*534+20C>T) c.*2248+20C>T (n.*2248+20C>T) c.3867+20C>T (n.3867+20C>T) c.*3697+20C>T (n.*3697+20C>T) c.3447+20C>T (n.3447+20C>T) c.621+20C>T (n.621+20C>T) c.1660+20C>T (n.1660+20C>T) c.455+20C>T c.1323+20C>T c.3783+20C>T (n.3783+20C>T) c.3963+20C>T (n.3963+20C>T) c.3630+20C>T (n.3630+20C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642614_117642615insAAAAAAA | CA1106311309 | CFTR | c.*82+21_*82+22insAAAAAAA (n.*82+21_*82+22insAAAAAAA) c.*3587+21_*3587+22insAAAAAAA (n.*3587+21_*3587+22insAAAAAAA) c.3690+21_3690+22insAAAAAAA (n.3690+21_3690+22insAAAAAAA) c.3873+21_3873+22insAAAAAAA (n.3873+21_3873+22insAAAAAAA) c.*526+21_*526+22insAAAAAAA (n.*526+21_*526+22insAAAAAAA) c.*534+21_*534+22insAAAAAAA (n.*534+21_*534+22insAAAAAAA) c.*2248+21_*2248+22insAAAAAAA (n.*2248+21_*2248+22insAAAAAAA) c.3867+21_3867+22insAAAAAAA (n.3867+21_3867+22insAAAAAAA) c.*3697+21_*3697+22insAAAAAAA (n.*3697+21_*3697+22insAAAAAAA) c.3447+21_3447+22insAAAAAAA (n.3447+21_3447+22insAAAAAAA) c.621+21_621+22insAAAAAAA (n.621+21_621+22insAAAAAAA) c.1660+21_1660+22insAAAAAAA (n.1660+21_1660+22insAAAAAAA) c.455+21_455+22insAAAAAAA c.1323+21_1323+22insAAAAAAA c.3783+21_3783+22insAAAAAAA (n.3783+21_3783+22insAAAAAAA) c.3963+21_3963+22insAAAAAAA (n.3963+21_3963+22insAAAAAAA) c.3630+21_3630+22insAAAAAAA (n.3630+21_3630+22insAAAAAAA) | gnomAD v3 gnomAD v4 |
| 7 | g.117642615G>A | CA1106311322 | CFTR | c.*82+22G>A (n.*82+22G>A) c.*3587+22G>A (n.*3587+22G>A) c.3690+22G>A (n.3690+22G>A) c.3873+22G>A (n.3873+22G>A) c.*526+22G>A (n.*526+22G>A) c.*534+22G>A (n.*534+22G>A) c.*2248+22G>A (n.*2248+22G>A) c.3867+22G>A (n.3867+22G>A) c.*3697+22G>A (n.*3697+22G>A) c.3447+22G>A (n.3447+22G>A) c.621+22G>A (n.621+22G>A) c.1660+22G>A (n.1660+22G>A) c.455+22G>A c.1323+22G>A c.3783+22G>A (n.3783+22G>A) c.3963+22G>A (n.3963+22G>A) c.3630+22G>A (n.3630+22G>A) | gnomAD v3 gnomAD v4 |
| 7 | g.117642615G= | CA1737404834 | CFTR | c.*82+22G= (n.*82+22G=) c.*3587+22G= (n.*3587+22G=) c.3690+22G= (n.3690+22G=) c.3873+22G= (n.3873+22G=) c.*526+22G= (n.*526+22G=) c.*534+22G= (n.*534+22G=) c.*2248+22G= (n.*2248+22G=) c.3867+22G= (n.3867+22G=) c.*3697+22G= (n.*3697+22G=) c.3447+22G= (n.3447+22G=) c.621+22G= (n.621+22G=) c.1660+22G= (n.1660+22G=) c.455+22G= c.1323+22G= c.3783+22G= (n.3783+22G=) c.3963+22G= (n.3963+22G=) c.3630+22G= (n.3630+22G=) | |
| 7 | g.117642621dup | CA4451564 | CFTR | c.*82+28dup (n.*82+28dup) c.*3587+28dup (n.*3587+28dup) c.3690+28dup (n.3690+28dup) c.3873+28dup (n.3873+28dup) c.*526+28dup (n.*526+28dup) c.*534+28dup (n.*534+28dup) c.*2248+28dup (n.*2248+28dup) c.3867+28dup (n.3867+28dup) c.*3697+28dup (n.*3697+28dup) c.3447+28dup (n.3447+28dup) c.621+28dup (n.621+28dup) c.1660+28dup (n.1660+28dup) c.455+28dup c.1323+28dup c.3783+28dup (n.3783+28dup) c.3963+28dup (n.3963+28dup) c.3630+28dup (n.3630+28dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642621del | CA577224073 | CFTR | c.*82+28del (n.*82+28del) c.*3587+28del (n.*3587+28del) c.3690+28del (n.3690+28del) c.3873+28del (n.3873+28del) c.*526+28del (n.*526+28del) c.*534+28del (n.*534+28del) c.*2248+28del (n.*2248+28del) c.3867+28del (n.3867+28del) c.*3697+28del (n.*3697+28del) c.3447+28del (n.3447+28del) c.621+28del (n.621+28del) c.1660+28del (n.1660+28del) c.455+28del c.1323+28del c.3783+28del (n.3783+28del) c.3963+28del (n.3963+28del) c.3630+28del (n.3630+28del) | gnomAD v2 gnomAD v4 |
| 7 | g.117642617A= | CA1737404835 | CFTR | c.*82+24A= (n.*82+24A=) c.*3587+24A= (n.*3587+24A=) c.3690+24A= (n.3690+24A=) c.3873+24A= (n.3873+24A=) c.*526+24A= (n.*526+24A=) c.*534+24A= (n.*534+24A=) c.*2248+24A= (n.*2248+24A=) c.3867+24A= (n.3867+24A=) c.*3697+24A= (n.*3697+24A=) c.3447+24A= (n.3447+24A=) c.621+24A= (n.621+24A=) c.1660+24A= (n.1660+24A=) c.455+24A= c.1323+24A= c.3783+24A= (n.3783+24A=) c.3963+24A= (n.3963+24A=) c.3630+24A= (n.3630+24A=) | |
| 7 | g.117642617A>G | CA4451565 | CFTR | c.*82+24A>G (n.*82+24A>G) c.*3587+24A>G (n.*3587+24A>G) c.3690+24A>G (n.3690+24A>G) c.3873+24A>G (n.3873+24A>G) c.*526+24A>G (n.*526+24A>G) c.*534+24A>G (n.*534+24A>G) c.*2248+24A>G (n.*2248+24A>G) c.3867+24A>G (n.3867+24A>G) c.*3697+24A>G (n.*3697+24A>G) c.3447+24A>G (n.3447+24A>G) c.621+24A>G (n.621+24A>G) c.1660+24A>G (n.1660+24A>G) c.455+24A>G c.1323+24A>G c.3783+24A>G (n.3783+24A>G) c.3963+24A>G (n.3963+24A>G) c.3630+24A>G (n.3630+24A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117642618A= | CA1737404836 | CFTR | c.*82+25A= (n.*82+25A=) c.*3587+25A= (n.*3587+25A=) c.3690+25A= (n.3690+25A=) c.3873+25A= (n.3873+25A=) c.*526+25A= (n.*526+25A=) c.*534+25A= (n.*534+25A=) c.*2248+25A= (n.*2248+25A=) c.3867+25A= (n.3867+25A=) c.*3697+25A= (n.*3697+25A=) c.3447+25A= (n.3447+25A=) c.621+25A= (n.621+25A=) c.1660+25A= (n.1660+25A=) c.455+25A= c.1323+25A= c.3783+25A= (n.3783+25A=) c.3963+25A= (n.3963+25A=) c.3630+25A= (n.3630+25A=) | |
| 7 | g.117642618A>G | CA4451566 | CFTR | c.*82+25A>G (n.*82+25A>G) c.*3587+25A>G (n.*3587+25A>G) c.3690+25A>G (n.3690+25A>G) c.3873+25A>G (n.3873+25A>G) c.*526+25A>G (n.*526+25A>G) c.*534+25A>G (n.*534+25A>G) c.*2248+25A>G (n.*2248+25A>G) c.3867+25A>G (n.3867+25A>G) c.*3697+25A>G (n.*3697+25A>G) c.3447+25A>G (n.3447+25A>G) c.621+25A>G (n.621+25A>G) c.1660+25A>G (n.1660+25A>G) c.455+25A>G c.1323+25A>G c.3783+25A>G (n.3783+25A>G) c.3963+25A>G (n.3963+25A>G) c.3630+25A>G (n.3630+25A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117642622G>A | CA915526565 | CFTR | c.*82+29G>A (n.*82+29G>A) c.*3587+29G>A (n.*3587+29G>A) c.3690+29G>A (n.3690+29G>A) c.3873+29G>A (n.3873+29G>A) c.*526+29G>A (n.*526+29G>A) c.*534+29G>A (n.*534+29G>A) c.*2248+29G>A (n.*2248+29G>A) c.3867+29G>A (n.3867+29G>A) c.*3697+29G>A (n.*3697+29G>A) c.3447+29G>A (n.3447+29G>A) c.621+29G>A (n.621+29G>A) c.1660+29G>A (n.1660+29G>A) c.455+29G>A c.1323+29G>A c.3783+29G>A (n.3783+29G>A) c.3963+29G>A (n.3963+29G>A) c.3630+29G>A (n.3630+29G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642622G>C | CA4451567 | CFTR | c.*82+29G>C (n.*82+29G>C) c.*3587+29G>C (n.*3587+29G>C) c.3690+29G>C (n.3690+29G>C) c.3873+29G>C (n.3873+29G>C) c.*526+29G>C (n.*526+29G>C) c.*534+29G>C (n.*534+29G>C) c.*2248+29G>C (n.*2248+29G>C) c.3867+29G>C (n.3867+29G>C) c.*3697+29G>C (n.*3697+29G>C) c.3447+29G>C (n.3447+29G>C) c.621+29G>C (n.621+29G>C) c.1660+29G>C (n.1660+29G>C) c.455+29G>C c.1323+29G>C c.3783+29G>C (n.3783+29G>C) c.3963+29G>C (n.3963+29G>C) c.3630+29G>C (n.3630+29G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642622G= | CA1737404837 | CFTR | c.*82+29G= (n.*82+29G=) c.*3587+29G= (n.*3587+29G=) c.3690+29G= (n.3690+29G=) c.3873+29G= (n.3873+29G=) c.*526+29G= (n.*526+29G=) c.*534+29G= (n.*534+29G=) c.*2248+29G= (n.*2248+29G=) c.3867+29G= (n.3867+29G=) c.*3697+29G= (n.*3697+29G=) c.3447+29G= (n.3447+29G=) c.621+29G= (n.621+29G=) c.1660+29G= (n.1660+29G=) c.455+29G= c.1323+29G= c.3783+29G= (n.3783+29G=) c.3963+29G= (n.3963+29G=) c.3630+29G= (n.3630+29G=) | |
| 7 | g.117642622_117642623insCT | CA577224074 | CFTR | c.*82+29_*82+30insCT (n.*82+29_*82+30insCT) c.*3587+29_*3587+30insCT (n.*3587+29_*3587+30insCT) c.3690+29_3690+30insCT (n.3690+29_3690+30insCT) c.3873+29_3873+30insCT (n.3873+29_3873+30insCT) c.*526+29_*526+30insCT (n.*526+29_*526+30insCT) c.*534+29_*534+30insCT (n.*534+29_*534+30insCT) c.*2248+29_*2248+30insCT (n.*2248+29_*2248+30insCT) c.3867+29_3867+30insCT (n.3867+29_3867+30insCT) c.*3697+29_*3697+30insCT (n.*3697+29_*3697+30insCT) c.3447+29_3447+30insCT (n.3447+29_3447+30insCT) c.621+29_621+30insCT (n.621+29_621+30insCT) c.1660+29_1660+30insCT (n.1660+29_1660+30insCT) c.455+29_455+30insCT c.1323+29_1323+30insCT c.3783+29_3783+30insCT (n.3783+29_3783+30insCT) c.3963+29_3963+30insCT (n.3963+29_3963+30insCT) c.3630+29_3630+30insCT (n.3630+29_3630+30insCT) | gnomAD v2 |
| 7 | g.117642623G>A | CA4451568 | CFTR | c.*82+30G>A (n.*82+30G>A) c.*3587+30G>A (n.*3587+30G>A) c.3690+30G>A (n.3690+30G>A) c.3873+30G>A (n.3873+30G>A) c.*526+30G>A (n.*526+30G>A) c.*534+30G>A (n.*534+30G>A) c.*2248+30G>A (n.*2248+30G>A) c.3867+30G>A (n.3867+30G>A) c.*3697+30G>A (n.*3697+30G>A) c.3447+30G>A (n.3447+30G>A) c.621+30G>A (n.621+30G>A) c.1660+30G>A (n.1660+30G>A) c.455+30G>A c.1323+30G>A c.3783+30G>A (n.3783+30G>A) c.3963+30G>A (n.3963+30G>A) c.3630+30G>A (n.3630+30G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117642623G= | CA1737404838 | CFTR | c.*82+30G= (n.*82+30G=) c.*3587+30G= (n.*3587+30G=) c.3690+30G= (n.3690+30G=) c.3873+30G= (n.3873+30G=) c.*526+30G= (n.*526+30G=) c.*534+30G= (n.*534+30G=) c.*2248+30G= (n.*2248+30G=) c.3867+30G= (n.3867+30G=) c.*3697+30G= (n.*3697+30G=) c.3447+30G= (n.3447+30G=) c.621+30G= (n.621+30G=) c.1660+30G= (n.1660+30G=) c.455+30G= c.1323+30G= c.3783+30G= (n.3783+30G=) c.3963+30G= (n.3963+30G=) c.3630+30G= (n.3630+30G=) | |
| 7 | g.117642623G>T | CA2684620478 | CFTR | c.*82+30G>T (n.*82+30G>T) c.*3587+30G>T (n.*3587+30G>T) c.3690+30G>T (n.3690+30G>T) c.3873+30G>T (n.3873+30G>T) c.*526+30G>T (n.*526+30G>T) c.*534+30G>T (n.*534+30G>T) c.*2248+30G>T (n.*2248+30G>T) c.3867+30G>T (n.3867+30G>T) c.*3697+30G>T (n.*3697+30G>T) c.3447+30G>T (n.3447+30G>T) c.621+30G>T (n.621+30G>T) c.1660+30G>T (n.1660+30G>T) c.455+30G>T c.1323+30G>T c.3783+30G>T (n.3783+30G>T) c.3963+30G>T (n.3963+30G>T) c.3630+30G>T (n.3630+30G>T) | gnomAD v4 |
| 7 | g.117642623_117642624insATAA | CA577224075 | CFTR | c.*82+30_*82+31insATAA (n.*82+30_*82+31insATAA) c.*3587+30_*3587+31insATAA (n.*3587+30_*3587+31insATAA) c.3690+30_3690+31insATAA (n.3690+30_3690+31insATAA) c.3873+30_3873+31insATAA (n.3873+30_3873+31insATAA) c.*526+30_*526+31insATAA (n.*526+30_*526+31insATAA) c.*534+30_*534+31insATAA (n.*534+30_*534+31insATAA) c.*2248+30_*2248+31insATAA (n.*2248+30_*2248+31insATAA) c.3867+30_3867+31insATAA (n.3867+30_3867+31insATAA) c.*3697+30_*3697+31insATAA (n.*3697+30_*3697+31insATAA) c.3447+30_3447+31insATAA (n.3447+30_3447+31insATAA) c.621+30_621+31insATAA (n.621+30_621+31insATAA) c.1660+30_1660+31insATAA (n.1660+30_1660+31insATAA) c.455+30_455+31insATAA c.1323+30_1323+31insATAA c.3783+30_3783+31insATAA (n.3783+30_3783+31insATAA) c.3963+30_3963+31insATAA (n.3963+30_3963+31insATAA) c.3630+30_3630+31insATAA (n.3630+30_3630+31insATAA) | gnomAD v2 |
| 7 | g.117642624C= | CA1737404839 | CFTR | c.*82+31C= (n.*82+31C=) c.*3587+31C= (n.*3587+31C=) c.3690+31C= (n.3690+31C=) c.3873+31C= (n.3873+31C=) c.*526+31C= (n.*526+31C=) c.*534+31C= (n.*534+31C=) c.*2248+31C= (n.*2248+31C=) c.3867+31C= (n.3867+31C=) c.*3697+31C= (n.*3697+31C=) c.3447+31C= (n.3447+31C=) c.621+31C= (n.621+31C=) c.1660+31C= (n.1660+31C=) c.455+31C= c.1323+31C= c.3783+31C= (n.3783+31C=) c.3963+31C= (n.3963+31C=) c.3630+31C= (n.3630+31C=) |