UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.117642507A= | CA1737404769 | CFTR | c.3587A= (p.His1196=) c.*3501A= (n.*3501A=) c.3604A= (p.Thr1202=) c.3787A= (p.Thr1263=) c.*440A= (n.*440A=) c.*448A= (n.*448A=) c.*2162A= (n.*2162A=) c.3781A= (p.Thr1261=) c.*3611A= (n.*3611A=) c.3361A= (p.Thr1121=) c.535A= (p.Thr179=) c.1574A= (n.1574A=) c.369A= c.1237A= c.3697A= (p.Thr1233=) c.3877A= (p.Thr1293=) c.3544A= (p.Thr1182=) | |
| 7 | g.117642507A>C | CA368974863 | CFTR | c.3587A>C (p.His1196Pro) c.*3501A>C (n.*3501A>C) c.3604A>C (p.Thr1202Pro) c.3787A>C (p.Thr1263Pro) c.*440A>C (n.*440A>C) c.*448A>C (n.*448A>C) c.*2162A>C (n.*2162A>C) c.3781A>C (p.Thr1261Pro) c.*3611A>C (n.*3611A>C) c.3361A>C (p.Thr1121Pro) c.535A>C (p.Thr179Pro) c.1574A>C (n.1574A>C) c.369A>C c.1237A>C c.3697A>C (p.Thr1233Pro) c.3877A>C (p.Thr1293Pro) c.3544A>C (p.Thr1182Pro) | |
| 7 | g.117642507A>G | CA368974865 | CFTR | c.3587A>G (p.His1196Arg) c.*3501A>G (n.*3501A>G) c.3604A>G (p.Thr1202Ala) c.3787A>G (p.Thr1263Ala) c.*440A>G (n.*440A>G) c.*448A>G (n.*448A>G) c.*2162A>G (n.*2162A>G) c.3781A>G (p.Thr1261Ala) c.*3611A>G (n.*3611A>G) c.3361A>G (p.Thr1121Ala) c.535A>G (p.Thr179Ala) c.1574A>G (n.1574A>G) c.369A>G c.1237A>G c.3697A>G (p.Thr1233Ala) c.3877A>G (p.Thr1293Ala) c.3544A>G (p.Thr1182Ala) | ClinVar dbSNP |
| 7 | g.117642507A>T | CA368974868 | CFTR | c.3587A>T (p.His1196Leu) c.*3501A>T (n.*3501A>T) c.3604A>T (p.Thr1202Ser) c.3787A>T (p.Thr1263Ser) c.*440A>T (n.*440A>T) c.*448A>T (n.*448A>T) c.*2162A>T (n.*2162A>T) c.3781A>T (p.Thr1261Ser) c.*3611A>T (n.*3611A>T) c.3361A>T (p.Thr1121Ser) c.535A>T (p.Thr179Ser) c.1574A>T (n.1574A>T) c.369A>T c.1237A>T c.3697A>T (p.Thr1233Ser) c.3877A>T (p.Thr1293Ser) c.3544A>T (p.Thr1182Ser) | |
| 7 | g.117642507_117642508delinsAC | CA1737404768 | CFTR | c.3587_3588delinsAC (p.His1196=) c.*3501_*3502delinsAC (n.*3501_*3502delinsAC) c.3604_3605delinsAC (p.Thr1202=) c.3787_3788delinsAC (p.Thr1263=) c.*440_*441delinsAC (n.*440_*441delinsAC) c.*448_*449delinsAC (n.*448_*449delinsAC) c.*2162_*2163delinsAC (n.*2162_*2163delinsAC) c.3781_3782delinsAC (p.Thr1261=) c.*3611_*3612delinsAC (n.*3611_*3612delinsAC) c.3361_3362delinsAC (p.Thr1121=) c.535_536delinsAC (p.Thr179=) c.1574_1575delinsAC (n.1574_1575delinsAC) c.369_370delinsAC c.1237_1238delinsAC c.3697_3698delinsAC (p.Thr1233=) c.3877_3878delinsAC (p.Thr1293=) c.3544_3545delinsAC (p.Thr1182=) | |
| 7 | g.117642508del | CA577224042 | CFTR | c.3588del (p.Ter1197GluextTer?) c.*3502del (n.*3502del) c.3605del (p.Thr1202MetfsTer15) c.3788del (p.Thr1263MetfsTer15) c.*441del (n.*441del) c.*449del (n.*449del) c.*2163del (n.*2163del) c.3782del (p.Thr1261MetfsTer15) c.*3612del (n.*3612del) c.3362del (p.Thr1121MetfsTer15) c.536del (p.Thr179MetfsTer15) c.1575del (n.1575del) c.370del c.1238del c.3698del (p.Thr1233MetfsTer15) c.3878del (p.Thr1293MetfsTer15) c.3545del (p.Thr1182MetfsTer15) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117642508C>A | CA368974876 | CFTR | c.3588C>A (p.His1196Gln) c.*3502C>A (n.*3502C>A) c.3605C>A (p.Thr1202Asn) c.3788C>A (p.Thr1263Asn) c.*441C>A (n.*441C>A) c.*449C>A (n.*449C>A) c.*2163C>A (n.*2163C>A) c.3782C>A (p.Thr1261Asn) c.*3612C>A (n.*3612C>A) c.3362C>A (p.Thr1121Asn) c.536C>A (p.Thr179Asn) c.1575C>A (n.1575C>A) c.370C>A c.1238C>A c.3698C>A (p.Thr1233Asn) c.3878C>A (p.Thr1293Asn) c.3545C>A (p.Thr1182Asn) | |
| 7 | g.117642508C= | CA1737404770 | CFTR | c.3588C= (p.His1196=) c.*3502C= (n.*3502C=) c.3605C= (p.Thr1202=) c.3788C= (p.Thr1263=) c.*441C= (n.*441C=) c.*449C= (n.*449C=) c.*2163C= (n.*2163C=) c.3782C= (p.Thr1261=) c.*3612C= (n.*3612C=) c.3362C= (p.Thr1121=) c.536C= (p.Thr179=) c.1575C= (n.1575C=) c.370C= c.1238C= c.3698C= (p.Thr1233=) c.3878C= (p.Thr1293=) c.3545C= (p.Thr1182=) | |
| 7 | g.117642508C>G | CA368974884 | CFTR | c.3588C>G (p.His1196Gln) c.*3502C>G (n.*3502C>G) c.3605C>G (p.Thr1202Ser) c.3788C>G (p.Thr1263Ser) c.*441C>G (n.*441C>G) c.*449C>G (n.*449C>G) c.*2163C>G (n.*2163C>G) c.3782C>G (p.Thr1261Ser) c.*3612C>G (n.*3612C>G) c.3362C>G (p.Thr1121Ser) c.536C>G (p.Thr179Ser) c.1575C>G (n.1575C>G) c.370C>G c.1238C>G c.3698C>G (p.Thr1233Ser) c.3878C>G (p.Thr1293Ser) c.3545C>G (p.Thr1182Ser) | |
| 7 | g.117642508C>T | CA4451545 | CFTR | c.3588C>T (p.His1196=) c.*3502C>T (n.*3502C>T) c.3605C>T (p.Thr1202Ile) c.3788C>T (p.Thr1263Ile) c.*441C>T (n.*441C>T) c.*449C>T (n.*449C>T) c.*2163C>T (n.*2163C>T) c.3782C>T (p.Thr1261Ile) c.*3612C>T (n.*3612C>T) c.3362C>T (p.Thr1121Ile) c.536C>T (p.Thr179Ile) c.1575C>T (n.1575C>T) c.370C>T c.1238C>T c.3698C>T (p.Thr1233Ile) c.3878C>T (p.Thr1293Ile) c.3545C>T (p.Thr1182Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117642509T>A | CA457228176 | CFTR | c.3589T>A (p.Ter1197Arg) c.*3503T>A (n.*3503T>A) c.3606T>A (p.Thr1202=) c.3789T>A (p.Thr1263=) c.*442T>A (n.*442T>A) c.*450T>A (n.*450T>A) c.*2164T>A (n.*2164T>A) c.3783T>A (p.Thr1261=) c.*3613T>A (n.*3613T>A) c.3363T>A (p.Thr1121=) c.537T>A (p.Thr179=) c.1576T>A (n.1576T>A) c.371T>A c.1239T>A c.3699T>A (p.Thr1233=) c.3879T>A (p.Thr1293=) c.3546T>A (p.Thr1182=) | |
| 7 | g.117642509T>C | CA4451546 | CFTR | c.3589T>C (p.Ter1197Arg) c.*3503T>C (n.*3503T>C) c.3606T>C (p.Thr1202=) c.3789T>C (p.Thr1263=) c.*442T>C (n.*442T>C) c.*450T>C (n.*450T>C) c.*2164T>C (n.*2164T>C) c.3783T>C (p.Thr1261=) c.*3613T>C (n.*3613T>C) c.3363T>C (p.Thr1121=) c.537T>C (p.Thr179=) c.1576T>C (n.1576T>C) c.371T>C c.1239T>C c.3699T>C (p.Thr1233=) c.3879T>C (p.Thr1293=) c.3546T>C (p.Thr1182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642509T>G | CA457228179 | CFTR | c.3589T>G (p.Ter1197Gly) c.*3503T>G (n.*3503T>G) c.3606T>G (p.Thr1202=) c.3789T>G (p.Thr1263=) c.*442T>G (n.*442T>G) c.*450T>G (n.*450T>G) c.*2164T>G (n.*2164T>G) c.3783T>G (p.Thr1261=) c.*3613T>G (n.*3613T>G) c.3363T>G (p.Thr1121=) c.537T>G (p.Thr179=) c.1576T>G (n.1576T>G) c.371T>G c.1239T>G c.3699T>G (p.Thr1233=) c.3879T>G (p.Thr1293=) c.3546T>G (p.Thr1182=) | |
| 7 | g.117642509T= | CA1737404771 | CFTR | c.3589T= (p.Ter1197=) c.*3503T= (n.*3503T=) c.3606T= (p.Thr1202=) c.3789T= (p.Thr1263=) c.*442T= (n.*442T=) c.*450T= (n.*450T=) c.*2164T= (n.*2164T=) c.3783T= (p.Thr1261=) c.*3613T= (n.*3613T=) c.3363T= (p.Thr1121=) c.537T= (p.Thr179=) c.1576T= (n.1576T=) c.371T= c.1239T= c.3699T= (p.Thr1233=) c.3879T= (p.Thr1293=) c.3546T= (p.Thr1182=) | |
| 7 | g.117642510G>A | CA368974900 | CFTR | c.3590G>A (p.Ter1197=) c.*3504G>A (n.*3504G>A) c.3607G>A (p.Glu1203Lys) c.3790G>A (p.Glu1264Lys) c.*443G>A (n.*443G>A) c.*451G>A (n.*451G>A) c.*2165G>A (n.*2165G>A) c.3784G>A (p.Glu1262Lys) c.*3614G>A (n.*3614G>A) c.3364G>A (p.Glu1122Lys) c.538G>A (p.Glu180Lys) c.1577G>A (n.1577G>A) c.372G>A c.1240G>A c.3700G>A (p.Glu1234Lys) c.3880G>A (p.Glu1294Lys) c.3547G>A (p.Glu1183Lys) | |
| 7 | g.117642510G>C | CA368974904 | CFTR | c.3590G>C (p.Ter1197Ser) c.*3504G>C (n.*3504G>C) c.3607G>C (p.Glu1203Gln) c.3790G>C (p.Glu1264Gln) c.*443G>C (n.*443G>C) c.*451G>C (n.*451G>C) c.*2165G>C (n.*2165G>C) c.3784G>C (p.Glu1262Gln) c.*3614G>C (n.*3614G>C) c.3364G>C (p.Glu1122Gln) c.538G>C (p.Glu180Gln) c.1577G>C (n.1577G>C) c.372G>C c.1240G>C c.3700G>C (p.Glu1234Gln) c.3880G>C (p.Glu1294Gln) c.3547G>C (p.Glu1183Gln) | |
| 7 | g.117642510G>T | CA368974906 | CFTR | c.3590G>T (p.Ter1197Leu) c.*3504G>T (n.*3504G>T) c.3607G>T (p.Glu1203Ter) c.3790G>T (p.Glu1264Ter) c.*443G>T (n.*443G>T) c.*451G>T (n.*451G>T) c.*2165G>T (n.*2165G>T) c.3784G>T (p.Glu1262Ter) c.*3614G>T (n.*3614G>T) c.3364G>T (p.Glu1122Ter) c.538G>T (p.Glu180Ter) c.1577G>T (n.1577G>T) c.372G>T c.1240G>T c.3700G>T (p.Glu1234Ter) c.3880G>T (p.Glu1294Ter) c.3547G>T (p.Glu1183Ter) | |
| 7 | g.117642510_117642519delinsC | CA2695205219 | CFTR | c.3590_*8delinsC (n.[c.3590_*8delinsC;Ter1197SerextTer?]) c.*3504_*3513delinsC (n.*3504_*3513delinsC) c.3607_3616delinsC (p.Glu1203_Ile1206delinsLeu) c.3790_3799delinsC (p.Glu1264_Ile1267delinsLeu) c.*443_*452delinsC (n.*443_*452delinsC) c.*451_*460delinsC (n.*451_*460delinsC) c.*2165_*2174delinsC (n.*2165_*2174delinsC) c.3784_3793delinsC (p.Glu1262_Ile1265delinsLeu) c.*3614_*3623delinsC (n.*3614_*3623delinsC) c.3364_3373delinsC (p.Glu1122_Ile1125delinsLeu) c.538_547delinsC (p.Glu180_Ile183delinsLeu) c.1577_1586delinsC (n.1577_1586delinsC) c.372_381delinsC c.1240_1249delinsC c.3700_3709delinsC (p.Glu1234_Ile1237delinsLeu) c.3880_3889delinsC (p.Glu1294_Ile1297delinsLeu) c.3547_3556delinsC (p.Glu1183_Ile1186delinsLeu) | |
| 7 | g.117642511A= | CA1737404772 | CFTR | c.3591A= (p.Ter1197=) c.*3505A= (n.*3505A=) c.3608A= (p.Glu1203=) c.3791A= (p.Glu1264=) c.*444A= (n.*444A=) c.*452A= (n.*452A=) c.*2166A= (n.*2166A=) c.3785A= (p.Glu1262=) c.*3615A= (n.*3615A=) c.3365A= (p.Glu1122=) c.539A= (p.Glu180=) c.1578A= (n.1578A=) c.373A= c.1241A= c.3701A= (p.Glu1234=) c.3881A= (p.Glu1294=) c.3548A= (p.Glu1183=) | |
| 7 | g.117642511A>C | CA368974910 | CFTR | c.3591A>C (p.Ter1197Cys) c.*3505A>C (n.*3505A>C) c.3608A>C (p.Glu1203Ala) c.3791A>C (p.Glu1264Ala) c.*444A>C (n.*444A>C) c.*452A>C (n.*452A>C) c.*2166A>C (n.*2166A>C) c.3785A>C (p.Glu1262Ala) c.*3615A>C (n.*3615A>C) c.3365A>C (p.Glu1122Ala) c.539A>C (p.Glu180Ala) c.1578A>C (n.1578A>C) c.373A>C c.1241A>C c.3701A>C (p.Glu1234Ala) c.3881A>C (p.Glu1294Ala) c.3548A>C (p.Glu1183Ala) | |
| 7 | g.117642511A>G | CA368974921 | CFTR | c.3591A>G (p.Ter1197Trp) c.*3505A>G (n.*3505A>G) c.3608A>G (p.Glu1203Gly) c.3791A>G (p.Glu1264Gly) c.*444A>G (n.*444A>G) c.*452A>G (n.*452A>G) c.*2166A>G (n.*2166A>G) c.3785A>G (p.Glu1262Gly) c.*3615A>G (n.*3615A>G) c.3365A>G (p.Glu1122Gly) c.539A>G (p.Glu180Gly) c.1578A>G (n.1578A>G) c.373A>G c.1241A>G c.3701A>G (p.Glu1234Gly) c.3881A>G (p.Glu1294Gly) c.3548A>G (p.Glu1183Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117642511A>T | CA368974912 | CFTR | c.3591A>T (p.Ter1197Cys) c.*3505A>T (n.*3505A>T) c.3608A>T (p.Glu1203Val) c.3791A>T (p.Glu1264Val) c.*444A>T (n.*444A>T) c.*452A>T (n.*452A>T) c.*2166A>T (n.*2166A>T) c.3785A>T (p.Glu1262Val) c.*3615A>T (n.*3615A>T) c.3365A>T (p.Glu1122Val) c.539A>T (p.Glu180Val) c.1578A>T (n.1578A>T) c.373A>T c.1241A>T c.3701A>T (p.Glu1234Val) c.3881A>T (p.Glu1294Val) c.3548A>T (p.Glu1183Val) | |
| 7 | g.117642512del | CA2739279629 | CFTR | c.*1del (n.*1del) c.*3506del (n.*3506del) c.3609del (p.Gly1204GlufsTer13) c.3792del (p.Gly1265GlufsTer13) c.*445del (n.*445del) c.*453del (n.*453del) c.*2167del (n.*2167del) c.3786del (p.Gly1263GlufsTer13) c.*3616del (n.*3616del) c.3366del (p.Gly1123GlufsTer13) c.540del (p.Gly181GlufsTer13) c.1579del (n.1579del) c.374del c.1242del c.3702del (p.Gly1235GlufsTer13) c.3882del (p.Gly1295GlufsTer13) c.3549del (p.Gly1184GlufsTer13) | ClinVar |
| 7 | g.117642512A= | CA1737404773 | CFTR | c.*1A= (n.*1A=) c.*3506A= (n.*3506A=) c.3609A= (p.Glu1203=) c.3792A= (p.Glu1264=) c.*445A= (n.*445A=) c.*453A= (n.*453A=) c.*2167A= (n.*2167A=) c.3786A= (p.Glu1262=) c.*3616A= (n.*3616A=) c.3366A= (p.Glu1122=) c.540A= (p.Glu180=) c.1579A= (n.1579A=) c.374A= c.1242A= c.3702A= (p.Glu1234=) c.3882A= (p.Glu1294=) c.3549A= (p.Glu1183=) | |
| 7 | g.117642512A>C | CA368974923 | CFTR | c.*1A>C (n.*1A>C) c.*3506A>C (n.*3506A>C) c.3609A>C (p.Glu1203Asp) c.3792A>C (p.Glu1264Asp) c.*445A>C (n.*445A>C) c.*453A>C (n.*453A>C) c.*2167A>C (n.*2167A>C) c.3786A>C (p.Glu1262Asp) c.*3616A>C (n.*3616A>C) c.3366A>C (p.Glu1122Asp) c.540A>C (p.Glu180Asp) c.1579A>C (n.1579A>C) c.374A>C c.1242A>C c.3702A>C (p.Glu1234Asp) c.3882A>C (p.Glu1294Asp) c.3549A>C (p.Glu1183Asp) | |
| 7 | g.117642512A>G | CA457228188 | CFTR | c.*1A>G (n.*1A>G) c.*3506A>G (n.*3506A>G) c.3609A>G (p.Glu1203=) c.3792A>G (p.Glu1264=) c.*445A>G (n.*445A>G) c.*453A>G (n.*453A>G) c.*2167A>G (n.*2167A>G) c.3786A>G (p.Glu1262=) c.*3616A>G (n.*3616A>G) c.3366A>G (p.Glu1122=) c.540A>G (p.Glu180=) c.1579A>G (n.1579A>G) c.374A>G c.1242A>G c.3702A>G (p.Glu1234=) c.3882A>G (p.Glu1294=) c.3549A>G (p.Glu1183=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642512A>T | CA368974933 | CFTR | c.*1A>T (n.*1A>T) c.*3506A>T (n.*3506A>T) c.3609A>T (p.Glu1203Asp) c.3792A>T (p.Glu1264Asp) c.*445A>T (n.*445A>T) c.*453A>T (n.*453A>T) c.*2167A>T (n.*2167A>T) c.3786A>T (p.Glu1262Asp) c.*3616A>T (n.*3616A>T) c.3366A>T (p.Glu1122Asp) c.540A>T (p.Glu180Asp) c.1579A>T (n.1579A>T) c.374A>T c.1242A>T c.3702A>T (p.Glu1234Asp) c.3882A>T (p.Glu1294Asp) c.3549A>T (p.Glu1183Asp) | |
| 7 | g.117642513G>A | CA368974938 | CFTR | c.*2G>A (n.*2G>A) c.*3507G>A (n.*3507G>A) c.3610G>A (p.Gly1204Arg) c.3793G>A (p.Gly1265Arg) c.*446G>A (n.*446G>A) c.*454G>A (n.*454G>A) c.*2168G>A (n.*2168G>A) c.3787G>A (p.Gly1263Arg) c.*3617G>A (n.*3617G>A) c.3367G>A (p.Gly1123Arg) c.541G>A (p.Gly181Arg) c.1580G>A (n.1580G>A) c.375G>A c.1243G>A c.3703G>A (p.Gly1235Arg) c.3883G>A (p.Gly1295Arg) c.3550G>A (p.Gly1184Arg) | ClinVar gnomAD v4 |
| 7 | g.117642513G>C | CA368974958 | CFTR | c.*2G>C (n.*2G>C) c.*3507G>C (n.*3507G>C) c.3610G>C (p.Gly1204Arg) c.3793G>C (p.Gly1265Arg) c.*446G>C (n.*446G>C) c.*454G>C (n.*454G>C) c.*2168G>C (n.*2168G>C) c.3787G>C (p.Gly1263Arg) c.*3617G>C (n.*3617G>C) c.3367G>C (p.Gly1123Arg) c.541G>C (p.Gly181Arg) c.1580G>C (n.1580G>C) c.375G>C c.1243G>C c.3703G>C (p.Gly1235Arg) c.3883G>C (p.Gly1295Arg) c.3550G>C (p.Gly1184Arg) | |
| 7 | g.117642513G>T | CA368974961 | CFTR | c.*2G>T (n.*2G>T) c.*3507G>T (n.*3507G>T) c.3610G>T (p.Gly1204Ter) c.3793G>T (p.Gly1265Ter) c.*446G>T (n.*446G>T) c.*454G>T (n.*454G>T) c.*2168G>T (n.*2168G>T) c.3787G>T (p.Gly1263Ter) c.*3617G>T (n.*3617G>T) c.3367G>T (p.Gly1123Ter) c.541G>T (p.Gly181Ter) c.1580G>T (n.1580G>T) c.375G>T c.1243G>T c.3703G>T (p.Gly1235Ter) c.3883G>T (p.Gly1295Ter) c.3550G>T (p.Gly1184Ter) | ClinVar |
| 7 | g.117642514G>A | CA368974973 | CFTR | c.*3G>A (n.*3G>A) c.*3508G>A (n.*3508G>A) c.3611G>A (p.Gly1204Glu) c.3794G>A (p.Gly1265Glu) c.*447G>A (n.*447G>A) c.*455G>A (n.*455G>A) c.*2169G>A (n.*2169G>A) c.3788G>A (p.Gly1263Glu) c.*3618G>A (n.*3618G>A) c.3368G>A (p.Gly1123Glu) c.542G>A (p.Gly181Glu) c.1581G>A (n.1581G>A) c.376G>A c.1244G>A c.3704G>A (p.Gly1235Glu) c.3884G>A (p.Gly1295Glu) c.3551G>A (p.Gly1184Glu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.117642514G>C | CA368974977 | CFTR | c.*3G>C (n.*3G>C) c.*3508G>C (n.*3508G>C) c.3611G>C (p.Gly1204Ala) c.3794G>C (p.Gly1265Ala) c.*447G>C (n.*447G>C) c.*455G>C (n.*455G>C) c.*2169G>C (n.*2169G>C) c.3788G>C (p.Gly1263Ala) c.*3618G>C (n.*3618G>C) c.3368G>C (p.Gly1123Ala) c.542G>C (p.Gly181Ala) c.1581G>C (n.1581G>C) c.376G>C c.1244G>C c.3704G>C (p.Gly1235Ala) c.3884G>C (p.Gly1295Ala) c.3551G>C (p.Gly1184Ala) | |
| 7 | g.117642514G= | CA1737404774 | CFTR | c.*3G= (n.*3G=) c.*3508G= (n.*3508G=) c.3611G= (p.Gly1204=) c.3794G= (p.Gly1265=) c.*447G= (n.*447G=) c.*455G= (n.*455G=) c.*2169G= (n.*2169G=) c.3788G= (p.Gly1263=) c.*3618G= (n.*3618G=) c.3368G= (p.Gly1123=) c.542G= (p.Gly181=) c.1581G= (n.1581G=) c.376G= c.1244G= c.3704G= (p.Gly1235=) c.3884G= (p.Gly1295=) c.3551G= (p.Gly1184=) | |
| 7 | g.117642514G>T | CA368974979 | CFTR | c.*3G>T (n.*3G>T) c.*3508G>T (n.*3508G>T) c.3611G>T (p.Gly1204Val) c.3794G>T (p.Gly1265Val) c.*447G>T (n.*447G>T) c.*455G>T (n.*455G>T) c.*2169G>T (n.*2169G>T) c.3788G>T (p.Gly1263Val) c.*3618G>T (n.*3618G>T) c.3368G>T (p.Gly1123Val) c.542G>T (p.Gly181Val) c.1581G>T (n.1581G>T) c.376G>T c.1244G>T c.3704G>T (p.Gly1235Val) c.3884G>T (p.Gly1295Val) c.3551G>T (p.Gly1184Val) | ClinVar dbSNP |
| 7 | g.117642516_117642517dup | CA2695205220 | CFTR | c.*5_*6dup (n.*5_*6dup) c.*3510_*3511dup (n.*3510_*3511dup) c.3613_3614dup (p.Ile1206LysfsTer12) c.3796_3797dup (p.Ile1267LysfsTer12) c.*449_*450dup (n.*449_*450dup) c.*457_*458dup (n.*457_*458dup) c.*2171_*2172dup (n.*2171_*2172dup) c.3790_3791dup (p.Ile1265LysfsTer12) c.*3620_*3621dup (n.*3620_*3621dup) c.3370_3371dup (p.Ile1125LysfsTer12) c.544_545dup (p.Ile183LysfsTer12) c.1583_1584dup (n.1583_1584dup) c.378_379dup c.1246_1247dup c.3706_3707dup (p.Ile1237LysfsTer12) c.3886_3887dup (p.Ile1297LysfsTer12) c.3553_3554dup (p.Ile1186LysfsTer12) | |
| 7 | g.117642515del | CA2580076354 | CFTR | c.*4del (n.*4del) c.*3509del (n.*3509del) c.3612del (p.Glu1205LysfsTer12) c.3795del (p.Glu1266LysfsTer12) c.*448del (n.*448del) c.*456del (n.*456del) c.*2170del (n.*2170del) c.3789del (p.Glu1264LysfsTer12) c.*3619del (n.*3619del) c.3369del (p.Glu1124LysfsTer12) c.543del (p.Glu182LysfsTer12) c.1582del (n.1582del) c.377del c.1245del c.3705del (p.Glu1236LysfsTer12) c.3885del (p.Glu1296LysfsTer12) c.3552del (p.Glu1185LysfsTer12) | ClinVar |
| 7 | g.117642515A>C | CA457228204 | CFTR | c.*4A>C (n.*4A>C) c.*3509A>C (n.*3509A>C) c.3612A>C (p.Gly1204=) c.3795A>C (p.Gly1265=) c.*448A>C (n.*448A>C) c.*456A>C (n.*456A>C) c.*2170A>C (n.*2170A>C) c.3789A>C (p.Gly1263=) c.*3619A>C (n.*3619A>C) c.3369A>C (p.Gly1123=) c.543A>C (p.Gly181=) c.1582A>C (n.1582A>C) c.377A>C c.1245A>C c.3705A>C (p.Gly1235=) c.3885A>C (p.Gly1295=) c.3552A>C (p.Gly1184=) | |
| 7 | g.117642515A>G | CA457228199 | CFTR | c.*4A>G (n.*4A>G) c.*3509A>G (n.*3509A>G) c.3612A>G (p.Gly1204=) c.3795A>G (p.Gly1265=) c.*448A>G (n.*448A>G) c.*456A>G (n.*456A>G) c.*2170A>G (n.*2170A>G) c.3789A>G (p.Gly1263=) c.*3619A>G (n.*3619A>G) c.3369A>G (p.Gly1123=) c.543A>G (p.Gly181=) c.1582A>G (n.1582A>G) c.377A>G c.1245A>G c.3705A>G (p.Gly1235=) c.3885A>G (p.Gly1295=) c.3552A>G (p.Gly1184=) | COSMIC |
| 7 | g.117642515A>T | CA457228201 | CFTR | c.*4A>T (n.*4A>T) c.*3509A>T (n.*3509A>T) c.3612A>T (p.Gly1204=) c.3795A>T (p.Gly1265=) c.*448A>T (n.*448A>T) c.*456A>T (n.*456A>T) c.*2170A>T (n.*2170A>T) c.3789A>T (p.Gly1263=) c.*3619A>T (n.*3619A>T) c.3369A>T (p.Gly1123=) c.543A>T (p.Gly181=) c.1582A>T (n.1582A>T) c.377A>T c.1245A>T c.3705A>T (p.Gly1235=) c.3885A>T (p.Gly1295=) c.3552A>T (p.Gly1184=) | |
| 7 | g.117642516G>A | CA368974983 | CFTR | c.*5G>A (n.*5G>A) c.*3510G>A (n.*3510G>A) c.3613G>A (p.Glu1205Lys) c.3796G>A (p.Glu1266Lys) c.*449G>A (n.*449G>A) c.*457G>A (n.*457G>A) c.*2171G>A (n.*2171G>A) c.3790G>A (p.Glu1264Lys) c.*3620G>A (n.*3620G>A) c.3370G>A (p.Glu1124Lys) c.544G>A (p.Glu182Lys) c.1583G>A (n.1583G>A) c.378G>A c.1246G>A c.3706G>A (p.Glu1236Lys) c.3886G>A (p.Glu1296Lys) c.3553G>A (p.Glu1185Lys) | gnomAD v4 |
| 7 | g.117642516G>C | CA368974985 | CFTR | c.*5G>C (n.*5G>C) c.*3510G>C (n.*3510G>C) c.3613G>C (p.Glu1205Gln) c.3796G>C (p.Glu1266Gln) c.*449G>C (n.*449G>C) c.*457G>C (n.*457G>C) c.*2171G>C (n.*2171G>C) c.3790G>C (p.Glu1264Gln) c.*3620G>C (n.*3620G>C) c.3370G>C (p.Glu1124Gln) c.544G>C (p.Glu182Gln) c.1583G>C (n.1583G>C) c.378G>C c.1246G>C c.3706G>C (p.Glu1236Gln) c.3886G>C (p.Glu1296Gln) c.3553G>C (p.Glu1185Gln) | |
| 7 | g.117642516G= | CA1737404775 | CFTR | c.*5G= (n.*5G=) c.*3510G= (n.*3510G=) c.3613G= (p.Glu1205=) c.3796G= (p.Glu1266=) c.*449G= (n.*449G=) c.*457G= (n.*457G=) c.*2171G= (n.*2171G=) c.3790G= (p.Glu1264=) c.*3620G= (n.*3620G=) c.3370G= (p.Glu1124=) c.544G= (p.Glu182=) c.1583G= (n.1583G=) c.378G= c.1246G= c.3706G= (p.Glu1236=) c.3886G= (p.Glu1296=) c.3553G= (p.Glu1185=) | |
| 7 | g.117642516G>T | CA368974987 | CFTR | c.*5G>T (n.*5G>T) c.*3510G>T (n.*3510G>T) c.3613G>T (p.Glu1205Ter) c.3796G>T (p.Glu1266Ter) c.*449G>T (n.*449G>T) c.*457G>T (n.*457G>T) c.*2171G>T (n.*2171G>T) c.3790G>T (p.Glu1264Ter) c.*3620G>T (n.*3620G>T) c.3370G>T (p.Glu1124Ter) c.544G>T (p.Glu182Ter) c.1583G>T (n.1583G>T) c.378G>T c.1246G>T c.3706G>T (p.Glu1236Ter) c.3886G>T (p.Glu1296Ter) c.3553G>T (p.Glu1185Ter) | ClinVar dbSNP |
| 7 | g.117642517A= | CA1737404776 | CFTR | c.*6A= (n.*6A=) c.*3511A= (n.*3511A=) c.3614A= (p.Glu1205=) c.3797A= (p.Glu1266=) c.*450A= (n.*450A=) c.*458A= (n.*458A=) c.*2172A= (n.*2172A=) c.3791A= (p.Glu1264=) c.*3621A= (n.*3621A=) c.3371A= (p.Glu1124=) c.545A= (p.Glu182=) c.1584A= (n.1584A=) c.379A= c.1247A= c.3707A= (p.Glu1236=) c.3887A= (p.Glu1296=) c.3554A= (p.Glu1185=) | |
| 7 | g.117642517A>C | CA368974988 | CFTR | c.*6A>C (n.*6A>C) c.*3511A>C (n.*3511A>C) c.3614A>C (p.Glu1205Ala) c.3797A>C (p.Glu1266Ala) c.*450A>C (n.*450A>C) c.*458A>C (n.*458A>C) c.*2172A>C (n.*2172A>C) c.3791A>C (p.Glu1264Ala) c.*3621A>C (n.*3621A>C) c.3371A>C (p.Glu1124Ala) c.545A>C (p.Glu182Ala) c.1584A>C (n.1584A>C) c.379A>C c.1247A>C c.3707A>C (p.Glu1236Ala) c.3887A>C (p.Glu1296Ala) c.3554A>C (p.Glu1185Ala) | |
| 7 | g.117642517A>G | CA368974992 | CFTR | c.*6A>G (n.*6A>G) c.*3511A>G (n.*3511A>G) c.3614A>G (p.Glu1205Gly) c.3797A>G (p.Glu1266Gly) c.*450A>G (n.*450A>G) c.*458A>G (n.*458A>G) c.*2172A>G (n.*2172A>G) c.3791A>G (p.Glu1264Gly) c.*3621A>G (n.*3621A>G) c.3371A>G (p.Glu1124Gly) c.545A>G (p.Glu182Gly) c.1584A>G (n.1584A>G) c.379A>G c.1247A>G c.3707A>G (p.Glu1236Gly) c.3887A>G (p.Glu1296Gly) c.3554A>G (p.Glu1185Gly) | ClinVar dbSNP |
| 7 | g.117642517A>T | CA368974990 | CFTR | c.*6A>T (n.*6A>T) c.*3511A>T (n.*3511A>T) c.3614A>T (p.Glu1205Val) c.3797A>T (p.Glu1266Val) c.*450A>T (n.*450A>T) c.*458A>T (n.*458A>T) c.*2172A>T (n.*2172A>T) c.3791A>T (p.Glu1264Val) c.*3621A>T (n.*3621A>T) c.3371A>T (p.Glu1124Val) c.545A>T (p.Glu182Val) c.1584A>T (n.1584A>T) c.379A>T c.1247A>T c.3707A>T (p.Glu1236Val) c.3887A>T (p.Glu1296Val) c.3554A>T (p.Glu1185Val) | |
| 7 | g.117642518A>C | CA368974996 | CFTR | c.*7A>C (n.*7A>C) c.*3512A>C (n.*3512A>C) c.3615A>C (p.Glu1205Asp) c.3798A>C (p.Glu1266Asp) c.*451A>C (n.*451A>C) c.*459A>C (n.*459A>C) c.*2173A>C (n.*2173A>C) c.3792A>C (p.Glu1264Asp) c.*3622A>C (n.*3622A>C) c.3372A>C (p.Glu1124Asp) c.546A>C (p.Glu182Asp) c.1585A>C (n.1585A>C) c.380A>C c.1248A>C c.3708A>C (p.Glu1236Asp) c.3888A>C (p.Glu1296Asp) c.3555A>C (p.Glu1185Asp) |