WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.117642411A>T | CA2684620464 | CFTR | c.3518-27A>T (n.3518-27A>T) c.*3432-27A>T (n.*3432-27A>T) c.3535-27A>T (n.3535-27A>T) c.3718-27A>T (n.3718-27A>T) c.*371-27A>T (n.*371-27A>T) c.*379-27A>T (n.*379-27A>T) c.*2093-27A>T (n.*2093-27A>T) c.3712-27A>T (n.3712-27A>T) c.*3542-27A>T (n.*3542-27A>T) c.3292-27A>T (n.3292-27A>T) c.466-27A>T (n.466-27A>T) c.1505-27A>T (n.1505-27A>T) c.300-27A>T c.1168-27A>T c.3628-27A>T (n.3628-27A>T) c.3808-27A>T (n.3808-27A>T) c.3475-27A>T (n.3475-27A>T) | gnomAD v4 |
| 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.117642412G>T | CA2684620465 | CFTR | c.3518-26G>T (n.3518-26G>T) c.*3432-26G>T (n.*3432-26G>T) c.3535-26G>T (n.3535-26G>T) c.3718-26G>T (n.3718-26G>T) c.*371-26G>T (n.*371-26G>T) c.*379-26G>T (n.*379-26G>T) c.*2093-26G>T (n.*2093-26G>T) c.3712-26G>T (n.3712-26G>T) c.*3542-26G>T (n.*3542-26G>T) c.3292-26G>T (n.3292-26G>T) c.466-26G>T (n.466-26G>T) c.1505-26G>T (n.1505-26G>T) c.300-26G>T c.1168-26G>T c.3628-26G>T (n.3628-26G>T) c.3808-26G>T (n.3808-26G>T) c.3475-26G>T (n.3475-26G>T) | gnomAD v4 |
| 7 | g.117642414G>A | CA4451535 | CFTR | c.3518-24G>A (n.3518-24G>A) c.*3432-24G>A (n.*3432-24G>A) c.3535-24G>A (n.3535-24G>A) c.3718-24G>A (n.3718-24G>A) c.*371-24G>A (n.*371-24G>A) c.*379-24G>A (n.*379-24G>A) c.*2093-24G>A (n.*2093-24G>A) c.3712-24G>A (n.3712-24G>A) c.*3542-24G>A (n.*3542-24G>A) c.3292-24G>A (n.3292-24G>A) c.466-24G>A (n.466-24G>A) c.1505-24G>A (n.1505-24G>A) c.300-24G>A c.1168-24G>A c.3628-24G>A (n.3628-24G>A) c.3808-24G>A (n.3808-24G>A) c.3475-24G>A (n.3475-24G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642414G= | CA1737404714 | CFTR | c.3518-24G= (n.3518-24G=) c.*3432-24G= (n.*3432-24G=) c.3535-24G= (n.3535-24G=) c.3718-24G= (n.3718-24G=) c.*371-24G= (n.*371-24G=) c.*379-24G= (n.*379-24G=) c.*2093-24G= (n.*2093-24G=) c.3712-24G= (n.3712-24G=) c.*3542-24G= (n.*3542-24G=) c.3292-24G= (n.3292-24G=) c.466-24G= (n.466-24G=) c.1505-24G= (n.1505-24G=) c.300-24G= c.1168-24G= c.3628-24G= (n.3628-24G=) c.3808-24G= (n.3808-24G=) c.3475-24G= (n.3475-24G=) | |
| 7 | g.117642414G>T | CA2573141564 | CFTR | c.3518-24G>T (n.3518-24G>T) c.*3432-24G>T (n.*3432-24G>T) c.3535-24G>T (n.3535-24G>T) c.3718-24G>T (n.3718-24G>T) c.*371-24G>T (n.*371-24G>T) c.*379-24G>T (n.*379-24G>T) c.*2093-24G>T (n.*2093-24G>T) c.3712-24G>T (n.3712-24G>T) c.*3542-24G>T (n.*3542-24G>T) c.3292-24G>T (n.3292-24G>T) c.466-24G>T (n.466-24G>T) c.1505-24G>T (n.1505-24G>T) c.300-24G>T c.1168-24G>T c.3628-24G>T (n.3628-24G>T) c.3808-24G>T (n.3808-24G>T) c.3475-24G>T (n.3475-24G>T) | ClinVar dbSNP |
| 7 | g.117642416T>C | CA2684620466 | CFTR | c.3518-22T>C (n.3518-22T>C) c.*3432-22T>C (n.*3432-22T>C) c.3535-22T>C (n.3535-22T>C) c.3718-22T>C (n.3718-22T>C) c.*371-22T>C (n.*371-22T>C) c.*379-22T>C (n.*379-22T>C) c.*2093-22T>C (n.*2093-22T>C) c.3712-22T>C (n.3712-22T>C) c.*3542-22T>C (n.*3542-22T>C) c.3292-22T>C (n.3292-22T>C) c.466-22T>C (n.466-22T>C) c.1505-22T>C (n.1505-22T>C) c.300-22T>C c.1168-22T>C c.3628-22T>C (n.3628-22T>C) c.3808-22T>C (n.3808-22T>C) c.3475-22T>C (n.3475-22T>C) | gnomAD v4 |
| 7 | g.117642417C>G | CA2684620468 | CFTR | c.3518-21C>G (n.3518-21C>G) c.*3432-21C>G (n.*3432-21C>G) c.3535-21C>G (n.3535-21C>G) c.3718-21C>G (n.3718-21C>G) c.*371-21C>G (n.*371-21C>G) c.*379-21C>G (n.*379-21C>G) c.*2093-21C>G (n.*2093-21C>G) c.3712-21C>G (n.3712-21C>G) c.*3542-21C>G (n.*3542-21C>G) c.3292-21C>G (n.3292-21C>G) c.466-21C>G (n.466-21C>G) c.1505-21C>G (n.1505-21C>G) c.300-21C>G c.1168-21C>G c.3628-21C>G (n.3628-21C>G) c.3808-21C>G (n.3808-21C>G) c.3475-21C>G (n.3475-21C>G) | gnomAD v4 |
| 7 | g.117642419del | CA2684620467 | CFTR | c.3518-19del (n.3518-19del) c.*3432-19del (n.*3432-19del) c.3535-19del (n.3535-19del) c.3718-19del (n.3718-19del) c.*371-19del (n.*371-19del) c.*379-19del (n.*379-19del) c.*2093-19del (n.*2093-19del) c.3712-19del (n.3712-19del) c.*3542-19del (n.*3542-19del) c.3292-19del (n.3292-19del) c.466-19del (n.466-19del) c.1505-19del (n.1505-19del) c.300-19del c.1168-19del c.3628-19del (n.3628-19del) c.3808-19del (n.3808-19del) c.3475-19del (n.3475-19del) | gnomAD v4 |
| 7 | g.117642420A= | CA1737404715 | CFTR | c.3518-18A= (n.3518-18A=) c.*3432-18A= (n.*3432-18A=) c.3535-18A= (n.3535-18A=) c.3718-18A= (n.3718-18A=) c.*371-18A= (n.*371-18A=) c.*379-18A= (n.*379-18A=) c.*2093-18A= (n.*2093-18A=) c.3712-18A= (n.3712-18A=) c.*3542-18A= (n.*3542-18A=) c.3292-18A= (n.3292-18A=) c.466-18A= (n.466-18A=) c.1505-18A= (n.1505-18A=) c.300-18A= c.1168-18A= c.3628-18A= (n.3628-18A=) c.3808-18A= (n.3808-18A=) c.3475-18A= (n.3475-18A=) | |
| 7 | g.117642420A>G | CA577223893 | CFTR | c.3518-18A>G (n.3518-18A>G) c.*3432-18A>G (n.*3432-18A>G) c.3535-18A>G (n.3535-18A>G) c.3718-18A>G (n.3718-18A>G) c.*371-18A>G (n.*371-18A>G) c.*379-18A>G (n.*379-18A>G) c.*2093-18A>G (n.*2093-18A>G) c.3712-18A>G (n.3712-18A>G) c.*3542-18A>G (n.*3542-18A>G) c.3292-18A>G (n.3292-18A>G) c.466-18A>G (n.466-18A>G) c.1505-18A>G (n.1505-18A>G) c.300-18A>G c.1168-18A>G c.3628-18A>G (n.3628-18A>G) c.3808-18A>G (n.3808-18A>G) c.3475-18A>G (n.3475-18A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642422C= | CA1737404716 | CFTR | c.3518-16C= (n.3518-16C=) c.*3432-16C= (n.*3432-16C=) c.3535-16C= (n.3535-16C=) c.3718-16C= (n.3718-16C=) c.*371-16C= (n.*371-16C=) c.*379-16C= (n.*379-16C=) c.*2093-16C= (n.*2093-16C=) c.3712-16C= (n.3712-16C=) c.*3542-16C= (n.*3542-16C=) c.3292-16C= (n.3292-16C=) c.466-16C= (n.466-16C=) c.1505-16C= (n.1505-16C=) c.300-16C= c.1168-16C= c.3628-16C= (n.3628-16C=) c.3808-16C= (n.3808-16C=) c.3475-16C= (n.3475-16C=) | |
| 7 | g.117642422C>T | CA577223894 | CFTR | c.3518-16C>T (n.3518-16C>T) c.*3432-16C>T (n.*3432-16C>T) c.3535-16C>T (n.3535-16C>T) c.3718-16C>T (n.3718-16C>T) c.*371-16C>T (n.*371-16C>T) c.*379-16C>T (n.*379-16C>T) c.*2093-16C>T (n.*2093-16C>T) c.3712-16C>T (n.3712-16C>T) c.*3542-16C>T (n.*3542-16C>T) c.3292-16C>T (n.3292-16C>T) c.466-16C>T (n.466-16C>T) c.1505-16C>T (n.1505-16C>T) c.300-16C>T c.1168-16C>T c.3628-16C>T (n.3628-16C>T) c.3808-16C>T (n.3808-16C>T) c.3475-16C>T (n.3475-16C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642423A= | CA1737404717 | CFTR | c.3518-15A= (n.3518-15A=) c.*3432-15A= (n.*3432-15A=) c.3535-15A= (n.3535-15A=) c.3718-15A= (n.3718-15A=) c.*371-15A= (n.*371-15A=) c.*379-15A= (n.*379-15A=) c.*2093-15A= (n.*2093-15A=) c.3712-15A= (n.3712-15A=) c.*3542-15A= (n.*3542-15A=) c.3292-15A= (n.3292-15A=) c.466-15A= (n.466-15A=) c.1505-15A= (n.1505-15A=) c.300-15A= c.1168-15A= c.3628-15A= (n.3628-15A=) c.3808-15A= (n.3808-15A=) c.3475-15A= (n.3475-15A=) | |
| 7 | g.117642423A>C | CA4451536 | CFTR | c.3518-15A>C (n.3518-15A>C) c.*3432-15A>C (n.*3432-15A>C) c.3535-15A>C (n.3535-15A>C) c.3718-15A>C (n.3718-15A>C) c.*371-15A>C (n.*371-15A>C) c.*379-15A>C (n.*379-15A>C) c.*2093-15A>C (n.*2093-15A>C) c.3712-15A>C (n.3712-15A>C) c.*3542-15A>C (n.*3542-15A>C) c.3292-15A>C (n.3292-15A>C) c.466-15A>C (n.466-15A>C) c.1505-15A>C (n.1505-15A>C) c.300-15A>C c.1168-15A>C c.3628-15A>C (n.3628-15A>C) c.3808-15A>C (n.3808-15A>C) c.3475-15A>C (n.3475-15A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642424C= | CA1737404718 | CFTR | c.3518-14C= (n.3518-14C=) c.*3432-14C= (n.*3432-14C=) c.3535-14C= (n.3535-14C=) c.3718-14C= (n.3718-14C=) c.*371-14C= (n.*371-14C=) c.*379-14C= (n.*379-14C=) c.*2093-14C= (n.*2093-14C=) c.3712-14C= (n.3712-14C=) c.*3542-14C= (n.*3542-14C=) c.3292-14C= (n.3292-14C=) c.466-14C= (n.466-14C=) c.1505-14C= (n.1505-14C=) c.300-14C= c.1168-14C= c.3628-14C= (n.3628-14C=) c.3808-14C= (n.3808-14C=) c.3475-14C= (n.3475-14C=) | |
| 7 | g.117642424C>G | CA1737404719 | CFTR | c.3518-14C>G (n.3518-14C>G) c.*3432-14C>G (n.*3432-14C>G) c.3535-14C>G (n.3535-14C>G) c.3718-14C>G (n.3718-14C>G) c.*371-14C>G (n.*371-14C>G) c.*379-14C>G (n.*379-14C>G) c.*2093-14C>G (n.*2093-14C>G) c.3712-14C>G (n.3712-14C>G) c.*3542-14C>G (n.*3542-14C>G) c.3292-14C>G (n.3292-14C>G) c.466-14C>G (n.466-14C>G) c.1505-14C>G (n.1505-14C>G) c.300-14C>G c.1168-14C>G c.3628-14C>G (n.3628-14C>G) c.3808-14C>G (n.3808-14C>G) c.3475-14C>G (n.3475-14C>G) | dbSNP gnomAD v4 |
| 7 | g.117642424C>T | CA4451537 | CFTR | c.3518-14C>T (n.3518-14C>T) c.*3432-14C>T (n.*3432-14C>T) c.3535-14C>T (n.3535-14C>T) c.3718-14C>T (n.3718-14C>T) c.*371-14C>T (n.*371-14C>T) c.*379-14C>T (n.*379-14C>T) c.*2093-14C>T (n.*2093-14C>T) c.3712-14C>T (n.3712-14C>T) c.*3542-14C>T (n.*3542-14C>T) c.3292-14C>T (n.3292-14C>T) c.466-14C>T (n.466-14C>T) c.1505-14C>T (n.1505-14C>T) c.300-14C>T c.1168-14C>T c.3628-14C>T (n.3628-14C>T) c.3808-14C>T (n.3808-14C>T) c.3475-14C>T (n.3475-14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117642425T>G | CA577223895 | CFTR | c.3518-13T>G (n.3518-13T>G) c.*3432-13T>G (n.*3432-13T>G) c.3535-13T>G (n.3535-13T>G) c.3718-13T>G (n.3718-13T>G) c.*371-13T>G (n.*371-13T>G) c.*379-13T>G (n.*379-13T>G) c.*2093-13T>G (n.*2093-13T>G) c.3712-13T>G (n.3712-13T>G) c.*3542-13T>G (n.*3542-13T>G) c.3292-13T>G (n.3292-13T>G) c.466-13T>G (n.466-13T>G) c.1505-13T>G (n.1505-13T>G) c.300-13T>G c.1168-13T>G c.3628-13T>G (n.3628-13T>G) c.3808-13T>G (n.3808-13T>G) c.3475-13T>G (n.3475-13T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117642425T= | CA1737404720 | CFTR | c.3518-13T= (n.3518-13T=) c.*3432-13T= (n.*3432-13T=) c.3535-13T= (n.3535-13T=) c.3718-13T= (n.3718-13T=) c.*371-13T= (n.*371-13T=) c.*379-13T= (n.*379-13T=) c.*2093-13T= (n.*2093-13T=) c.3712-13T= (n.3712-13T=) c.*3542-13T= (n.*3542-13T=) c.3292-13T= (n.3292-13T=) c.466-13T= (n.466-13T=) c.1505-13T= (n.1505-13T=) c.300-13T= c.1168-13T= c.3628-13T= (n.3628-13T=) c.3808-13T= (n.3808-13T=) c.3475-13T= (n.3475-13T=) | |
| 7 | g.117642429A= | CA1737404721 | CFTR | c.3518-9A= (n.3518-9A=) c.*3432-9A= (n.*3432-9A=) c.3535-9A= (n.3535-9A=) c.3718-9A= (n.3718-9A=) c.*371-9A= (n.*371-9A=) c.*379-9A= (n.*379-9A=) c.*2093-9A= (n.*2093-9A=) c.3712-9A= (n.3712-9A=) c.*3542-9A= (n.*3542-9A=) c.3292-9A= (n.3292-9A=) c.466-9A= (n.466-9A=) c.1505-9A= (n.1505-9A=) c.300-9A= c.1168-9A= c.3628-9A= (n.3628-9A=) c.3808-9A= (n.3808-9A=) c.3475-9A= (n.3475-9A=) | |
| 7 | g.117642429A>T | CA4451538 | CFTR | c.3518-9A>T (n.3518-9A>T) c.*3432-9A>T (n.*3432-9A>T) c.3535-9A>T (n.3535-9A>T) c.3718-9A>T (n.3718-9A>T) c.*371-9A>T (n.*371-9A>T) c.*379-9A>T (n.*379-9A>T) c.*2093-9A>T (n.*2093-9A>T) c.3712-9A>T (n.3712-9A>T) c.*3542-9A>T (n.*3542-9A>T) c.3292-9A>T (n.3292-9A>T) c.466-9A>T (n.466-9A>T) c.1505-9A>T (n.1505-9A>T) c.300-9A>T c.1168-9A>T c.3628-9A>T (n.3628-9A>T) c.3808-9A>T (n.3808-9A>T) c.3475-9A>T (n.3475-9A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117642433_117642445del | CA2499218698 | CFTR | c.3518-5_3525del c.*3432-5_*3439del c.3535-5_3542del c.3718-5_3725del c.*371-5_*378del c.*379-5_*386del c.*2093-5_*2100del c.3712-5_3719del c.*3542-5_*3549del c.3292-5_3299del c.466-5_473del c.1505-5_1512del c.300-5_307del c.1168-5_1175del c.3628-5_3635del c.3808-5_3815del c.3475-5_3482del | ClinVar dbSNP |
| 7 | g.117642432T>A | CA2684620469 | CFTR | c.3518-6T>A (n.3518-6T>A) c.*3432-6T>A (n.*3432-6T>A) c.3535-6T>A (n.3535-6T>A) c.3718-6T>A (n.3718-6T>A) c.*371-6T>A (n.*371-6T>A) c.*379-6T>A (n.*379-6T>A) c.*2093-6T>A (n.*2093-6T>A) c.3712-6T>A (n.3712-6T>A) c.*3542-6T>A (n.*3542-6T>A) c.3292-6T>A (n.3292-6T>A) c.466-6T>A (n.466-6T>A) c.1505-6T>A (n.1505-6T>A) c.300-6T>A c.1168-6T>A c.3628-6T>A (n.3628-6T>A) c.3808-6T>A (n.3808-6T>A) c.3475-6T>A (n.3475-6T>A) | gnomAD v4 |
| 7 | g.117642434A>G | CA2684620470 | CFTR | c.3518-4A>G (n.3518-4A>G) c.*3432-4A>G (n.*3432-4A>G) c.3535-4A>G (n.3535-4A>G) c.3718-4A>G (n.3718-4A>G) c.*371-4A>G (n.*371-4A>G) c.*379-4A>G (n.*379-4A>G) c.*2093-4A>G (n.*2093-4A>G) c.3712-4A>G (n.3712-4A>G) c.*3542-4A>G (n.*3542-4A>G) c.3292-4A>G (n.3292-4A>G) c.466-4A>G (n.466-4A>G) c.1505-4A>G (n.1505-4A>G) c.300-4A>G c.1168-4A>G c.3628-4A>G (n.3628-4A>G) c.3808-4A>G (n.3808-4A>G) c.3475-4A>G (n.3475-4A>G) | gnomAD v4 |
| 7 | g.117642435T>C | CA4451539 | CFTR | c.3518-3T>C (n.3518-3T>C) c.*3432-3T>C (n.*3432-3T>C) c.3535-3T>C (n.3535-3T>C) c.3718-3T>C (n.3718-3T>C) c.*371-3T>C (n.*371-3T>C) c.*379-3T>C (n.*379-3T>C) c.*2093-3T>C (n.*2093-3T>C) c.3712-3T>C (n.3712-3T>C) c.*3542-3T>C (n.*3542-3T>C) c.3292-3T>C (n.3292-3T>C) c.466-3T>C (n.466-3T>C) c.1505-3T>C (n.1505-3T>C) c.300-3T>C c.1168-3T>C c.3628-3T>C (n.3628-3T>C) c.3808-3T>C (n.3808-3T>C) c.3475-3T>C (n.3475-3T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117642435T>G | CA327260 | CFTR | c.3518-3T>G (n.3518-3T>G) c.*3432-3T>G (n.*3432-3T>G) c.3535-3T>G (n.3535-3T>G) c.3718-3T>G (n.3718-3T>G) c.*371-3T>G (n.*371-3T>G) c.*379-3T>G (n.*379-3T>G) c.*2093-3T>G (n.*2093-3T>G) c.3712-3T>G (n.3712-3T>G) c.*3542-3T>G (n.*3542-3T>G) c.3292-3T>G (n.3292-3T>G) c.466-3T>G (n.466-3T>G) c.1505-3T>G (n.1505-3T>G) c.300-3T>G c.1168-3T>G c.3628-3T>G (n.3628-3T>G) c.3808-3T>G (n.3808-3T>G) c.3475-3T>G (n.3475-3T>G) | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.117642435T= | CA1737404722 | CFTR | c.3518-3T= (n.3518-3T=) c.*3432-3T= (n.*3432-3T=) c.3535-3T= (n.3535-3T=) c.3718-3T= (n.3718-3T=) c.*371-3T= (n.*371-3T=) c.*379-3T= (n.*379-3T=) c.*2093-3T= (n.*2093-3T=) c.3712-3T= (n.3712-3T=) c.*3542-3T= (n.*3542-3T=) c.3292-3T= (n.3292-3T=) c.466-3T= (n.466-3T=) c.1505-3T= (n.1505-3T=) c.300-3T= c.1168-3T= c.3628-3T= (n.3628-3T=) c.3808-3T= (n.3808-3T=) c.3475-3T= (n.3475-3T=) | |
| 7 | g.117642436A>C | CA368974388 | CFTR | c.3518-2A>C (n.3518-2A>C) c.*3432-2A>C (n.*3432-2A>C) c.3535-2A>C (n.3535-2A>C) c.3718-2A>C (n.3718-2A>C) c.*371-2A>C (n.*371-2A>C) c.*379-2A>C (n.*379-2A>C) c.*2093-2A>C (n.*2093-2A>C) c.3712-2A>C (n.3712-2A>C) c.*3542-2A>C (n.*3542-2A>C) c.3292-2A>C (n.3292-2A>C) c.466-2A>C (n.466-2A>C) c.1505-2A>C (n.1505-2A>C) c.300-2A>C c.1168-2A>C c.3628-2A>C (n.3628-2A>C) c.3808-2A>C (n.3808-2A>C) c.3475-2A>C (n.3475-2A>C) | |
| 7 | g.117642436A>G | CA368974390 | CFTR | c.3518-2A>G (n.3518-2A>G) c.*3432-2A>G (n.*3432-2A>G) c.3535-2A>G (n.3535-2A>G) c.3718-2A>G (n.3718-2A>G) c.*371-2A>G (n.*371-2A>G) c.*379-2A>G (n.*379-2A>G) c.*2093-2A>G (n.*2093-2A>G) c.3712-2A>G (n.3712-2A>G) c.*3542-2A>G (n.*3542-2A>G) c.3292-2A>G (n.3292-2A>G) c.466-2A>G (n.466-2A>G) c.1505-2A>G (n.1505-2A>G) c.300-2A>G c.1168-2A>G c.3628-2A>G (n.3628-2A>G) c.3808-2A>G (n.3808-2A>G) c.3475-2A>G (n.3475-2A>G) | |
| 7 | g.117642436A>T | CA368974392 | CFTR | c.3518-2A>T (n.3518-2A>T) c.*3432-2A>T (n.*3432-2A>T) c.3535-2A>T (n.3535-2A>T) c.3718-2A>T (n.3718-2A>T) c.*371-2A>T (n.*371-2A>T) c.*379-2A>T (n.*379-2A>T) c.*2093-2A>T (n.*2093-2A>T) c.3712-2A>T (n.3712-2A>T) c.*3542-2A>T (n.*3542-2A>T) c.3292-2A>T (n.3292-2A>T) c.466-2A>T (n.466-2A>T) c.1505-2A>T (n.1505-2A>T) c.300-2A>T c.1168-2A>T c.3628-2A>T (n.3628-2A>T) c.3808-2A>T (n.3808-2A>T) c.3475-2A>T (n.3475-2A>T) | |
| 7 | g.117642437G>A | CA325568 | CFTR | c.3518-1G>A (n.3518-1G>A) c.*3432-1G>A (n.*3432-1G>A) c.3535-1G>A (n.3535-1G>A) c.3718-1G>A (n.3718-1G>A) c.*371-1G>A (n.*371-1G>A) c.*379-1G>A (n.*379-1G>A) c.*2093-1G>A (n.*2093-1G>A) c.3712-1G>A (n.3712-1G>A) c.*3542-1G>A (n.*3542-1G>A) c.3292-1G>A (n.3292-1G>A) c.466-1G>A (n.466-1G>A) c.1505-1G>A (n.1505-1G>A) c.300-1G>A c.1168-1G>A c.3628-1G>A (n.3628-1G>A) c.3808-1G>A (n.3808-1G>A) c.3475-1G>A (n.3475-1G>A) | ClinVar dbSNP COSMIC |
| 7 | g.117642437G>C | CA368974395 | CFTR | c.3518-1G>C (n.3518-1G>C) c.*3432-1G>C (n.*3432-1G>C) c.3535-1G>C (n.3535-1G>C) c.3718-1G>C (n.3718-1G>C) c.*371-1G>C (n.*371-1G>C) c.*379-1G>C (n.*379-1G>C) c.*2093-1G>C (n.*2093-1G>C) c.3712-1G>C (n.3712-1G>C) c.*3542-1G>C (n.*3542-1G>C) c.3292-1G>C (n.3292-1G>C) c.466-1G>C (n.466-1G>C) c.1505-1G>C (n.1505-1G>C) c.300-1G>C c.1168-1G>C c.3628-1G>C (n.3628-1G>C) c.3808-1G>C (n.3808-1G>C) c.3475-1G>C (n.3475-1G>C) | ClinVar |
| 7 | g.117642437G= | CA1737404723 | CFTR | c.3518-1G= (n.3518-1G=) c.*3432-1G= (n.*3432-1G=) c.3535-1G= (n.3535-1G=) c.3718-1G= (n.3718-1G=) c.*371-1G= (n.*371-1G=) c.*379-1G= (n.*379-1G=) c.*2093-1G= (n.*2093-1G=) c.3712-1G= (n.3712-1G=) c.*3542-1G= (n.*3542-1G=) c.3292-1G= (n.3292-1G=) c.466-1G= (n.466-1G=) c.1505-1G= (n.1505-1G=) c.300-1G= c.1168-1G= c.3628-1G= (n.3628-1G=) c.3808-1G= (n.3808-1G=) c.3475-1G= (n.3475-1G=) | |
| 7 | g.117642437G>T | CA368974396 | CFTR | c.3518-1G>T (n.3518-1G>T) c.*3432-1G>T (n.*3432-1G>T) c.3535-1G>T (n.3535-1G>T) c.3718-1G>T (n.3718-1G>T) c.*371-1G>T (n.*371-1G>T) c.*379-1G>T (n.*379-1G>T) c.*2093-1G>T (n.*2093-1G>T) c.3712-1G>T (n.3712-1G>T) c.*3542-1G>T (n.*3542-1G>T) c.3292-1G>T (n.3292-1G>T) c.466-1G>T (n.466-1G>T) c.1505-1G>T (n.1505-1G>T) c.300-1G>T c.1168-1G>T c.3628-1G>T (n.3628-1G>T) c.3808-1G>T (n.3808-1G>T) c.3475-1G>T (n.3475-1G>T) | gnomAD v4 |
| 7 | g.117642438G>A | CA368974398 | CFTR | c.3518G>A (p.Gly1173Asp) c.*3432G>A (n.*3432G>A) c.3535G>A (p.Val1179Met) c.3718G>A (p.Val1240Met) c.*371G>A (n.*371G>A) c.*379G>A (n.*379G>A) c.*2093G>A (n.*2093G>A) c.3712G>A (p.Val1238Met) c.*3542G>A (n.*3542G>A) c.3292G>A (p.Val1098Met) c.466G>A (p.Val156Met) c.1505G>A (n.1505G>A) c.300G>A c.1168G>A c.3628G>A (p.Val1210Met) c.3808G>A (p.Val1270Met) c.3475G>A (p.Val1159Met) | |
| 7 | g.117642438G>C | CA368974399 | CFTR | c.3518G>C (p.Gly1173Ala) c.*3432G>C (n.*3432G>C) c.3535G>C (p.Val1179Leu) c.3718G>C (p.Val1240Leu) c.*371G>C (n.*371G>C) c.*379G>C (n.*379G>C) c.*2093G>C (n.*2093G>C) c.3712G>C (p.Val1238Leu) c.*3542G>C (n.*3542G>C) c.3292G>C (p.Val1098Leu) c.466G>C (p.Val156Leu) c.1505G>C (n.1505G>C) c.300G>C c.1168G>C c.3628G>C (p.Val1210Leu) c.3808G>C (p.Val1270Leu) c.3475G>C (p.Val1159Leu) | |
| 7 | g.117642438G= | CA1737404724 | CFTR | c.3518G= (p.Gly1173=) c.*3432G= (n.*3432G=) c.3535G= (p.Val1179=) c.3718G= (p.Val1240=) c.*371G= (n.*371G=) c.*379G= (n.*379G=) c.*2093G= (n.*2093G=) c.3712G= (p.Val1238=) c.*3542G= (n.*3542G=) c.3292G= (p.Val1098=) c.466G= (p.Val156=) c.1505G= (n.1505G=) c.300G= c.1168G= c.3628G= (p.Val1210=) c.3808G= (p.Val1270=) c.3475G= (p.Val1159=) | |
| 7 | g.117642438G>T | CA368974400 | CFTR | c.3518G>T (p.Gly1173Val) c.*3432G>T (n.*3432G>T) c.3535G>T (p.Val1179Leu) c.3718G>T (p.Val1240Leu) c.*371G>T (n.*371G>T) c.*379G>T (n.*379G>T) c.*2093G>T (n.*2093G>T) c.3712G>T (p.Val1238Leu) c.*3542G>T (n.*3542G>T) c.3292G>T (p.Val1098Leu) c.466G>T (p.Val156Leu) c.1505G>T (n.1505G>T) c.300G>T c.1168G>T c.3628G>T (p.Val1210Leu) c.3808G>T (p.Val1270Leu) c.3475G>T (p.Val1159Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117642439T>A | CA368974403 | CFTR | c.3519T>A (p.Gly1173=) c.*3433T>A (n.*3433T>A) c.3536T>A (p.Val1179Glu) c.3719T>A (p.Val1240Glu) c.*372T>A (n.*372T>A) c.*380T>A (n.*380T>A) c.*2094T>A (n.*2094T>A) c.3713T>A (p.Val1238Glu) c.*3543T>A (n.*3543T>A) c.3293T>A (p.Val1098Glu) c.467T>A (p.Val156Glu) c.1506T>A (n.1506T>A) c.301T>A c.1169T>A c.3629T>A (p.Val1210Glu) c.3809T>A (p.Val1270Glu) c.3476T>A (p.Val1159Glu) | |
| 7 | g.117642439T>C | CA368974405 | CFTR | c.3519T>C (p.Gly1173=) c.*3433T>C (n.*3433T>C) c.3536T>C (p.Val1179Ala) c.3719T>C (p.Val1240Ala) c.*372T>C (n.*372T>C) c.*380T>C (n.*380T>C) c.*2094T>C (n.*2094T>C) c.3713T>C (p.Val1238Ala) c.*3543T>C (n.*3543T>C) c.3293T>C (p.Val1098Ala) c.467T>C (p.Val156Ala) c.1506T>C (n.1506T>C) c.301T>C c.1169T>C c.3629T>C (p.Val1210Ala) c.3809T>C (p.Val1270Ala) c.3476T>C (p.Val1159Ala) | |
| 7 | g.117642439T>G | CA327262 | CFTR | c.3519T>G (p.Gly1173=) c.*3433T>G (n.*3433T>G) c.3536T>G (p.Val1179Gly) c.3719T>G (p.Val1240Gly) c.*372T>G (n.*372T>G) c.*380T>G (n.*380T>G) c.*2094T>G (n.*2094T>G) c.3713T>G (p.Val1238Gly) c.*3543T>G (n.*3543T>G) c.3293T>G (p.Val1098Gly) c.467T>G (p.Val156Gly) c.1506T>G (n.1506T>G) c.301T>G c.1169T>G c.3629T>G (p.Val1210Gly) c.3809T>G (p.Val1270Gly) c.3476T>G (p.Val1159Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117642439T= | CA1737404725 | CFTR | c.3519T= (p.Gly1173=) c.*3433T= (n.*3433T=) c.3536T= (p.Val1179=) c.3719T= (p.Val1240=) c.*372T= (n.*372T=) c.*380T= (n.*380T=) c.*2094T= (n.*2094T=) c.3713T= (p.Val1238=) c.*3543T= (n.*3543T=) c.3293T= (p.Val1098=) c.467T= (p.Val156=) c.1506T= (n.1506T=) c.301T= c.1169T= c.3629T= (p.Val1210=) c.3809T= (p.Val1270=) c.3476T= (p.Val1159=) | |
| 7 | g.117642440G>A | CA457228053 | CFTR | c.3520G>A (p.Gly1174Arg) c.*3434G>A (n.*3434G>A) c.3537G>A (p.Val1179=) c.3720G>A (p.Val1240=) c.*373G>A (n.*373G>A) c.*381G>A (n.*381G>A) c.*2095G>A (n.*2095G>A) c.3714G>A (p.Val1238=) c.*3544G>A (n.*3544G>A) c.3294G>A (p.Val1098=) c.468G>A (p.Val156=) c.1507G>A (n.1507G>A) c.302G>A c.1170G>A c.3630G>A (p.Val1210=) c.3810G>A (p.Val1270=) c.3477G>A (p.Val1159=) | |
| 7 | g.117642440G>C | CA457228054 | CFTR | c.3520G>C (p.Gly1174Arg) c.*3434G>C (n.*3434G>C) c.3537G>C (p.Val1179=) c.3720G>C (p.Val1240=) c.*373G>C (n.*373G>C) c.*381G>C (n.*381G>C) c.*2095G>C (n.*2095G>C) c.3714G>C (p.Val1238=) c.*3544G>C (n.*3544G>C) c.3294G>C (p.Val1098=) c.468G>C (p.Val156=) c.1507G>C (n.1507G>C) c.302G>C c.1170G>C c.3630G>C (p.Val1210=) c.3810G>C (p.Val1270=) c.3477G>C (p.Val1159=) | |
| 7 | g.117642440G>T | CA457228055 | CFTR | c.3520G>T (p.Gly1174Trp) c.*3434G>T (n.*3434G>T) c.3537G>T (p.Val1179=) c.3720G>T (p.Val1240=) c.*373G>T (n.*373G>T) c.*381G>T (n.*381G>T) c.*2095G>T (n.*2095G>T) c.3714G>T (p.Val1238=) c.*3544G>T (n.*3544G>T) c.3294G>T (p.Val1098=) c.468G>T (p.Val156=) c.1507G>T (n.1507G>T) c.302G>T c.1170G>T c.3630G>T (p.Val1210=) c.3810G>T (p.Val1270=) c.3477G>T (p.Val1159=) | |
| 7 | g.117642441G>A | CA368974409 | CFTR | c.3521G>A (p.Gly1174Glu) c.*3435G>A (n.*3435G>A) c.3538G>A (p.Gly1180Ser) c.3721G>A (p.Gly1241Ser) c.*374G>A (n.*374G>A) c.*382G>A (n.*382G>A) c.*2096G>A (n.*2096G>A) c.3715G>A (p.Gly1239Ser) c.*3545G>A (n.*3545G>A) c.3295G>A (p.Gly1099Ser) c.469G>A (p.Gly157Ser) c.1508G>A (n.1508G>A) c.303G>A c.1171G>A c.3631G>A (p.Gly1211Ser) c.3811G>A (p.Gly1271Ser) c.3478G>A (p.Gly1160Ser) | ClinVar |
| 7 | g.117642441G>C | CA368974411 | CFTR | c.3521G>C (p.Gly1174Ala) c.*3435G>C (n.*3435G>C) c.3538G>C (p.Gly1180Arg) c.3721G>C (p.Gly1241Arg) c.*374G>C (n.*374G>C) c.*382G>C (n.*382G>C) c.*2096G>C (n.*2096G>C) c.3715G>C (p.Gly1239Arg) c.*3545G>C (n.*3545G>C) c.3295G>C (p.Gly1099Arg) c.469G>C (p.Gly157Arg) c.1508G>C (n.1508G>C) c.303G>C c.1171G>C c.3631G>C (p.Gly1211Arg) c.3811G>C (p.Gly1271Arg) c.3478G>C (p.Gly1160Arg) | |
| 7 | g.117642441G>T | CA368974414 | CFTR | c.3521G>T (p.Gly1174Val) c.*3435G>T (n.*3435G>T) c.3538G>T (p.Gly1180Cys) c.3721G>T (p.Gly1241Cys) c.*374G>T (n.*374G>T) c.*382G>T (n.*382G>T) c.*2096G>T (n.*2096G>T) c.3715G>T (p.Gly1239Cys) c.*3545G>T (n.*3545G>T) c.3295G>T (p.Gly1099Cys) c.469G>T (p.Gly157Cys) c.1508G>T (n.1508G>T) c.303G>T c.1171G>T c.3631G>T (p.Gly1211Cys) c.3811G>T (p.Gly1271Cys) c.3478G>T (p.Gly1160Cys) |