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.117660798_117670251delinsTAACT | CA2580076337 | CFTR | c.90-3890_368+4687delinsTAACT | ClinVar |
| 7 | g.117664610_117666141del | CA264802 | CFTR | c.*173-78_*451+577del c.*3678-78_*3956+577del c.3781-78_4059+577del c.*177-78_*455+577del c.*617-78_*895+577del c.*173-78_*452-507del c.3964-78_4242+577del c.*625-78_*903+577del c.*2339-78_*2617+577del c.3958-78_4236+577del c.*3788-78_*4066+577del c.3538-78_3816+577del n.2132-78_2987del c.828-78_1106+577del c.1751-78_2029+577del c.546-78_825-507del c.1414-78_1692+577del c.3874-78_4152+577del c.90-78_368+577del c.4054-78_4332+577del c.4054-78_4333-507del c.3721-78_3999+577del | ClinVar |
| 7 | g.117664686_117665563delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT | CA1737421696 | CFTR | c.*173-2_*450delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.*3678-2_*3955delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.3781-2_4058delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.*177-2_*454delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.*617-2_*894delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.3964-2_4241delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.*625-2_*902delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.*2339-2_*2616delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.3958-2_4235delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.*3788-2_*4065delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.3538-2_3815delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT n.2132-2_2409delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.828-2_1105delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.1751-2_2028delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.546-2_823delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.1414-2_1691delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.3874-2_4151delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.90-2_367delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.4054-2_4331delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.3721-2_3998delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT | |
| 7 | g.117664688_117667108del | CA913189944 | CFTR | c.*173_*652del c.*3678_*4157del c.3781_4260del c.*177_*656del c.*617_*896-494del c.*173_*912del c.3964_*149del c.*625_*904-494del c.*2339_*2818del c.3958_4437del c.*3788_*4267del c.3538_4017del n.2132_3954del c.828_1307del c.1751_2030-494del c.546_1285del c.3964_4443del c.1414_1893del c.90_368+1544del c.4054_4533del c.3721_4200del | ClinVar |
| 7 | g.117664690_117665566del | CA913189945 | CFTR | c.*175_*451+2del c.*3680_*3956+2del c.3783_4059+2del c.*179_*455+2del c.*619_*895+2del c.3966_4242+2del c.*627_*903+2del c.*2341_*2617+2del c.3960_4236+2del c.*3790_*4066+2del c.3540_3816+2del n.2134_2412del c.830_1106+2del c.1753_2029+2del c.548_824+2del c.1416_1692+2del c.3876_4152+2del c.92_368+2del c.4056_4332+2del c.3723_3999+2del | ClinVar dbSNP |
| 7 | g.117665340A= | CA1737422662 | CFTR | c.*346-119A= (n.*346-119A=) c.*3851-119A= (n.*3851-119A=) c.3954-119A= (n.3954-119A=) c.*350-119A= (n.*350-119A=) c.*790-119A= (n.*790-119A=) c.4137-119A= (n.4137-119A=) c.*798-119A= (n.*798-119A=) c.*2512-119A= (n.*2512-119A=) c.4131-119A= (n.4131-119A=) c.*3961-119A= (n.*3961-119A=) c.3711-119A= (n.3711-119A=) n.2305-119A= c.1001-119A= (n.1001-119A=) c.1924-119A= (n.1924-119A=) c.719-119A= c.1587-119A= c.4047-119A= (n.4047-119A=) c.263-119A= c.4227-119A= (n.4227-119A=) c.3894-119A= (n.3894-119A=) | |
| 7 | g.117665340A>C | CA832122206 | CFTR | c.*346-119A>C (n.*346-119A>C) c.*3851-119A>C (n.*3851-119A>C) c.3954-119A>C (n.3954-119A>C) c.*350-119A>C (n.*350-119A>C) c.*790-119A>C (n.*790-119A>C) c.4137-119A>C (n.4137-119A>C) c.*798-119A>C (n.*798-119A>C) c.*2512-119A>C (n.*2512-119A>C) c.4131-119A>C (n.4131-119A>C) c.*3961-119A>C (n.*3961-119A>C) c.3711-119A>C (n.3711-119A>C) n.2305-119A>C c.1001-119A>C (n.1001-119A>C) c.1924-119A>C (n.1924-119A>C) c.719-119A>C c.1587-119A>C c.4047-119A>C (n.4047-119A>C) c.263-119A>C c.4227-119A>C (n.4227-119A>C) c.3894-119A>C (n.3894-119A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117665343G>A | CA1737422664 | CFTR | c.*346-116G>A (n.*346-116G>A) c.*3851-116G>A (n.*3851-116G>A) c.3954-116G>A (n.3954-116G>A) c.*350-116G>A (n.*350-116G>A) c.*790-116G>A (n.*790-116G>A) c.4137-116G>A (n.4137-116G>A) c.*798-116G>A (n.*798-116G>A) c.*2512-116G>A (n.*2512-116G>A) c.4131-116G>A (n.4131-116G>A) c.*3961-116G>A (n.*3961-116G>A) c.3711-116G>A (n.3711-116G>A) n.2305-116G>A c.1001-116G>A (n.1001-116G>A) c.1924-116G>A (n.1924-116G>A) c.719-116G>A c.1587-116G>A c.4047-116G>A (n.4047-116G>A) c.263-116G>A c.4227-116G>A (n.4227-116G>A) c.3894-116G>A (n.3894-116G>A) | dbSNP |
| 7 | g.117665343G>C | CA2684649259 | CFTR | c.*346-116G>C (n.*346-116G>C) c.*3851-116G>C (n.*3851-116G>C) c.3954-116G>C (n.3954-116G>C) c.*350-116G>C (n.*350-116G>C) c.*790-116G>C (n.*790-116G>C) c.4137-116G>C (n.4137-116G>C) c.*798-116G>C (n.*798-116G>C) c.*2512-116G>C (n.*2512-116G>C) c.4131-116G>C (n.4131-116G>C) c.*3961-116G>C (n.*3961-116G>C) c.3711-116G>C (n.3711-116G>C) n.2305-116G>C c.1001-116G>C (n.1001-116G>C) c.1924-116G>C (n.1924-116G>C) c.719-116G>C c.1587-116G>C c.4047-116G>C (n.4047-116G>C) c.263-116G>C c.4227-116G>C (n.4227-116G>C) c.3894-116G>C (n.3894-116G>C) | gnomAD v4 |
| 7 | g.117665343G= | CA1737422663 | CFTR | c.*346-116G= (n.*346-116G=) c.*3851-116G= (n.*3851-116G=) c.3954-116G= (n.3954-116G=) c.*350-116G= (n.*350-116G=) c.*790-116G= (n.*790-116G=) c.4137-116G= (n.4137-116G=) c.*798-116G= (n.*798-116G=) c.*2512-116G= (n.*2512-116G=) c.4131-116G= (n.4131-116G=) c.*3961-116G= (n.*3961-116G=) c.3711-116G= (n.3711-116G=) n.2305-116G= c.1001-116G= (n.1001-116G=) c.1924-116G= (n.1924-116G=) c.719-116G= c.1587-116G= c.4047-116G= (n.4047-116G=) c.263-116G= c.4227-116G= (n.4227-116G=) c.3894-116G= (n.3894-116G=) | |
| 7 | g.117665343G>T | CA164960525 | CFTR | c.*346-116G>T (n.*346-116G>T) c.*3851-116G>T (n.*3851-116G>T) c.3954-116G>T (n.3954-116G>T) c.*350-116G>T (n.*350-116G>T) c.*790-116G>T (n.*790-116G>T) c.4137-116G>T (n.4137-116G>T) c.*798-116G>T (n.*798-116G>T) c.*2512-116G>T (n.*2512-116G>T) c.4131-116G>T (n.4131-116G>T) c.*3961-116G>T (n.*3961-116G>T) c.3711-116G>T (n.3711-116G>T) n.2305-116G>T c.1001-116G>T (n.1001-116G>T) c.1924-116G>T (n.1924-116G>T) c.719-116G>T c.1587-116G>T c.4047-116G>T (n.4047-116G>T) c.263-116G>T c.4227-116G>T (n.4227-116G>T) c.3894-116G>T (n.3894-116G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117665345A>G | CA2684649260 | CFTR | c.*346-114A>G (n.*346-114A>G) c.*3851-114A>G (n.*3851-114A>G) c.3954-114A>G (n.3954-114A>G) c.*350-114A>G (n.*350-114A>G) c.*790-114A>G (n.*790-114A>G) c.4137-114A>G (n.4137-114A>G) c.*798-114A>G (n.*798-114A>G) c.*2512-114A>G (n.*2512-114A>G) c.4131-114A>G (n.4131-114A>G) c.*3961-114A>G (n.*3961-114A>G) c.3711-114A>G (n.3711-114A>G) n.2305-114A>G c.1001-114A>G (n.1001-114A>G) c.1924-114A>G (n.1924-114A>G) c.719-114A>G c.1587-114A>G c.4047-114A>G (n.4047-114A>G) c.263-114A>G c.4227-114A>G (n.4227-114A>G) c.3894-114A>G (n.3894-114A>G) | gnomAD v4 |
| 7 | g.117665346C>A | CA2684649261 | CFTR | c.*346-113C>A (n.*346-113C>A) c.*3851-113C>A (n.*3851-113C>A) c.3954-113C>A (n.3954-113C>A) c.*350-113C>A (n.*350-113C>A) c.*790-113C>A (n.*790-113C>A) c.4137-113C>A (n.4137-113C>A) c.*798-113C>A (n.*798-113C>A) c.*2512-113C>A (n.*2512-113C>A) c.4131-113C>A (n.4131-113C>A) c.*3961-113C>A (n.*3961-113C>A) c.3711-113C>A (n.3711-113C>A) n.2305-113C>A c.1001-113C>A (n.1001-113C>A) c.1924-113C>A (n.1924-113C>A) c.719-113C>A c.1587-113C>A c.4047-113C>A (n.4047-113C>A) c.263-113C>A c.4227-113C>A (n.4227-113C>A) c.3894-113C>A (n.3894-113C>A) | gnomAD v4 |
| 7 | g.117665346C= | CA1737422665 | CFTR | c.*346-113C= (n.*346-113C=) c.*3851-113C= (n.*3851-113C=) c.3954-113C= (n.3954-113C=) c.*350-113C= (n.*350-113C=) c.*790-113C= (n.*790-113C=) c.4137-113C= (n.4137-113C=) c.*798-113C= (n.*798-113C=) c.*2512-113C= (n.*2512-113C=) c.4131-113C= (n.4131-113C=) c.*3961-113C= (n.*3961-113C=) c.3711-113C= (n.3711-113C=) n.2305-113C= c.1001-113C= (n.1001-113C=) c.1924-113C= (n.1924-113C=) c.719-113C= c.1587-113C= c.4047-113C= (n.4047-113C=) c.263-113C= c.4227-113C= (n.4227-113C=) c.3894-113C= (n.3894-113C=) | |
| 7 | g.117665346C>T | CA1737422666 | CFTR | c.*346-113C>T (n.*346-113C>T) c.*3851-113C>T (n.*3851-113C>T) c.3954-113C>T (n.3954-113C>T) c.*350-113C>T (n.*350-113C>T) c.*790-113C>T (n.*790-113C>T) c.4137-113C>T (n.4137-113C>T) c.*798-113C>T (n.*798-113C>T) c.*2512-113C>T (n.*2512-113C>T) c.4131-113C>T (n.4131-113C>T) c.*3961-113C>T (n.*3961-113C>T) c.3711-113C>T (n.3711-113C>T) n.2305-113C>T c.1001-113C>T (n.1001-113C>T) c.1924-113C>T (n.1924-113C>T) c.719-113C>T c.1587-113C>T c.4047-113C>T (n.4047-113C>T) c.263-113C>T c.4227-113C>T (n.4227-113C>T) c.3894-113C>T (n.3894-113C>T) | dbSNP gnomAD v4 |
| 7 | g.117665349A>G | CA2684649262 | CFTR | c.*346-110A>G (n.*346-110A>G) c.*3851-110A>G (n.*3851-110A>G) c.3954-110A>G (n.3954-110A>G) c.*350-110A>G (n.*350-110A>G) c.*790-110A>G (n.*790-110A>G) c.4137-110A>G (n.4137-110A>G) c.*798-110A>G (n.*798-110A>G) c.*2512-110A>G (n.*2512-110A>G) c.4131-110A>G (n.4131-110A>G) c.*3961-110A>G (n.*3961-110A>G) c.3711-110A>G (n.3711-110A>G) n.2305-110A>G c.1001-110A>G (n.1001-110A>G) c.1924-110A>G (n.1924-110A>G) c.719-110A>G c.1587-110A>G c.4047-110A>G (n.4047-110A>G) c.263-110A>G c.4227-110A>G (n.4227-110A>G) c.3894-110A>G (n.3894-110A>G) | gnomAD v4 |
| 7 | g.117665351A>T | CA2684649263 | CFTR | c.*346-108A>T (n.*346-108A>T) c.*3851-108A>T (n.*3851-108A>T) c.3954-108A>T (n.3954-108A>T) c.*350-108A>T (n.*350-108A>T) c.*790-108A>T (n.*790-108A>T) c.4137-108A>T (n.4137-108A>T) c.*798-108A>T (n.*798-108A>T) c.*2512-108A>T (n.*2512-108A>T) c.4131-108A>T (n.4131-108A>T) c.*3961-108A>T (n.*3961-108A>T) c.3711-108A>T (n.3711-108A>T) n.2305-108A>T c.1001-108A>T (n.1001-108A>T) c.1924-108A>T (n.1924-108A>T) c.719-108A>T c.1587-108A>T c.4047-108A>T (n.4047-108A>T) c.263-108A>T c.4227-108A>T (n.4227-108A>T) c.3894-108A>T (n.3894-108A>T) | gnomAD v4 |
| 7 | g.117665352G>C | CA2684649264 | CFTR | c.*346-107G>C (n.*346-107G>C) c.*3851-107G>C (n.*3851-107G>C) c.3954-107G>C (n.3954-107G>C) c.*350-107G>C (n.*350-107G>C) c.*790-107G>C (n.*790-107G>C) c.4137-107G>C (n.4137-107G>C) c.*798-107G>C (n.*798-107G>C) c.*2512-107G>C (n.*2512-107G>C) c.4131-107G>C (n.4131-107G>C) c.*3961-107G>C (n.*3961-107G>C) c.3711-107G>C (n.3711-107G>C) n.2305-107G>C c.1001-107G>C (n.1001-107G>C) c.1924-107G>C (n.1924-107G>C) c.719-107G>C c.1587-107G>C c.4047-107G>C (n.4047-107G>C) c.263-107G>C c.4227-107G>C (n.4227-107G>C) c.3894-107G>C (n.3894-107G>C) | gnomAD v4 |
| 7 | g.117665352G>T | CA2684649265 | CFTR | c.*346-107G>T (n.*346-107G>T) c.*3851-107G>T (n.*3851-107G>T) c.3954-107G>T (n.3954-107G>T) c.*350-107G>T (n.*350-107G>T) c.*790-107G>T (n.*790-107G>T) c.4137-107G>T (n.4137-107G>T) c.*798-107G>T (n.*798-107G>T) c.*2512-107G>T (n.*2512-107G>T) c.4131-107G>T (n.4131-107G>T) c.*3961-107G>T (n.*3961-107G>T) c.3711-107G>T (n.3711-107G>T) n.2305-107G>T c.1001-107G>T (n.1001-107G>T) c.1924-107G>T (n.1924-107G>T) c.719-107G>T c.1587-107G>T c.4047-107G>T (n.4047-107G>T) c.263-107G>T c.4227-107G>T (n.4227-107G>T) c.3894-107G>T (n.3894-107G>T) | gnomAD v4 |
| 7 | g.117665355del | CA2684649266 | CFTR | c.*346-104del (n.*346-104del) c.*3851-104del (n.*3851-104del) c.3954-104del (n.3954-104del) c.*350-104del (n.*350-104del) c.*790-104del (n.*790-104del) c.4137-104del (n.4137-104del) c.*798-104del (n.*798-104del) c.*2512-104del (n.*2512-104del) c.4131-104del (n.4131-104del) c.*3961-104del (n.*3961-104del) c.3711-104del (n.3711-104del) n.2305-104del c.1001-104del (n.1001-104del) c.1924-104del (n.1924-104del) c.719-104del c.1587-104del c.4047-104del (n.4047-104del) c.263-104del c.4227-104del (n.4227-104del) c.3894-104del (n.3894-104del) | gnomAD v4 |
| 7 | g.117665355_117665358del | CA2684649267 | CFTR | c.*346-104_*346-101del (n.*346-104_*346-101del) c.*3851-104_*3851-101del (n.*3851-104_*3851-101del) c.3954-104_3954-101del (n.3954-104_3954-101del) c.*350-104_*350-101del (n.*350-104_*350-101del) c.*790-104_*790-101del (n.*790-104_*790-101del) c.4137-104_4137-101del (n.4137-104_4137-101del) c.*798-104_*798-101del (n.*798-104_*798-101del) c.*2512-104_*2512-101del (n.*2512-104_*2512-101del) c.4131-104_4131-101del (n.4131-104_4131-101del) c.*3961-104_*3961-101del (n.*3961-104_*3961-101del) c.3711-104_3711-101del (n.3711-104_3711-101del) n.2305-104_2305-101del c.1001-104_1001-101del (n.1001-104_1001-101del) c.1924-104_1924-101del (n.1924-104_1924-101del) c.719-104_719-101del c.1587-104_1587-101del c.4047-104_4047-101del (n.4047-104_4047-101del) c.263-104_263-101del c.4227-104_4227-101del (n.4227-104_4227-101del) c.3894-104_3894-101del (n.3894-104_3894-101del) | gnomAD v4 |
| 7 | g.117665355A= | CA1737422667 | CFTR | c.*346-104A= (n.*346-104A=) c.*3851-104A= (n.*3851-104A=) c.3954-104A= (n.3954-104A=) c.*350-104A= (n.*350-104A=) c.*790-104A= (n.*790-104A=) c.4137-104A= (n.4137-104A=) c.*798-104A= (n.*798-104A=) c.*2512-104A= (n.*2512-104A=) c.4131-104A= (n.4131-104A=) c.*3961-104A= (n.*3961-104A=) c.3711-104A= (n.3711-104A=) n.2305-104A= c.1001-104A= (n.1001-104A=) c.1924-104A= (n.1924-104A=) c.719-104A= c.1587-104A= c.4047-104A= (n.4047-104A=) c.263-104A= c.4227-104A= (n.4227-104A=) c.3894-104A= (n.3894-104A=) | |
| 7 | g.117665355A>G | CA832122207 | CFTR | c.*346-104A>G (n.*346-104A>G) c.*3851-104A>G (n.*3851-104A>G) c.3954-104A>G (n.3954-104A>G) c.*350-104A>G (n.*350-104A>G) c.*790-104A>G (n.*790-104A>G) c.4137-104A>G (n.4137-104A>G) c.*798-104A>G (n.*798-104A>G) c.*2512-104A>G (n.*2512-104A>G) c.4131-104A>G (n.4131-104A>G) c.*3961-104A>G (n.*3961-104A>G) c.3711-104A>G (n.3711-104A>G) n.2305-104A>G c.1001-104A>G (n.1001-104A>G) c.1924-104A>G (n.1924-104A>G) c.719-104A>G c.1587-104A>G c.4047-104A>G (n.4047-104A>G) c.263-104A>G c.4227-104A>G (n.4227-104A>G) c.3894-104A>G (n.3894-104A>G) | dbSNP |
| 7 | g.117665356T>G | CA2715453385 | CFTR | c.*346-103T>G (n.*346-103T>G) c.*3851-103T>G (n.*3851-103T>G) c.3954-103T>G (n.3954-103T>G) c.*350-103T>G (n.*350-103T>G) c.*790-103T>G (n.*790-103T>G) c.4137-103T>G (n.4137-103T>G) c.*798-103T>G (n.*798-103T>G) c.*2512-103T>G (n.*2512-103T>G) c.4131-103T>G (n.4131-103T>G) c.*3961-103T>G (n.*3961-103T>G) c.3711-103T>G (n.3711-103T>G) n.2305-103T>G c.1001-103T>G (n.1001-103T>G) c.1924-103T>G (n.1924-103T>G) c.719-103T>G c.1587-103T>G c.4047-103T>G (n.4047-103T>G) c.263-103T>G c.4227-103T>G (n.4227-103T>G) c.3894-103T>G (n.3894-103T>G) | dbSNP |
| 7 | g.117665357A= | CA1737422668 | CFTR | c.*346-102A= (n.*346-102A=) c.*3851-102A= (n.*3851-102A=) c.3954-102A= (n.3954-102A=) c.*350-102A= (n.*350-102A=) c.*790-102A= (n.*790-102A=) c.4137-102A= (n.4137-102A=) c.*798-102A= (n.*798-102A=) c.*2512-102A= (n.*2512-102A=) c.4131-102A= (n.4131-102A=) c.*3961-102A= (n.*3961-102A=) c.3711-102A= (n.3711-102A=) n.2305-102A= c.1001-102A= (n.1001-102A=) c.1924-102A= (n.1924-102A=) c.719-102A= c.1587-102A= c.4047-102A= (n.4047-102A=) c.263-102A= c.4227-102A= (n.4227-102A=) c.3894-102A= (n.3894-102A=) | |
| 7 | g.117665357A>T | CA1737422669 | CFTR | c.*346-102A>T (n.*346-102A>T) c.*3851-102A>T (n.*3851-102A>T) c.3954-102A>T (n.3954-102A>T) c.*350-102A>T (n.*350-102A>T) c.*790-102A>T (n.*790-102A>T) c.4137-102A>T (n.4137-102A>T) c.*798-102A>T (n.*798-102A>T) c.*2512-102A>T (n.*2512-102A>T) c.4131-102A>T (n.4131-102A>T) c.*3961-102A>T (n.*3961-102A>T) c.3711-102A>T (n.3711-102A>T) n.2305-102A>T c.1001-102A>T (n.1001-102A>T) c.1924-102A>T (n.1924-102A>T) c.719-102A>T c.1587-102A>T c.4047-102A>T (n.4047-102A>T) c.263-102A>T c.4227-102A>T (n.4227-102A>T) c.3894-102A>T (n.3894-102A>T) | dbSNP |
| 7 | g.117665358A>G | CA2684649268 | CFTR | c.*346-101A>G (n.*346-101A>G) c.*3851-101A>G (n.*3851-101A>G) c.3954-101A>G (n.3954-101A>G) c.*350-101A>G (n.*350-101A>G) c.*790-101A>G (n.*790-101A>G) c.4137-101A>G (n.4137-101A>G) c.*798-101A>G (n.*798-101A>G) c.*2512-101A>G (n.*2512-101A>G) c.4131-101A>G (n.4131-101A>G) c.*3961-101A>G (n.*3961-101A>G) c.3711-101A>G (n.3711-101A>G) n.2305-101A>G c.1001-101A>G (n.1001-101A>G) c.1924-101A>G (n.1924-101A>G) c.719-101A>G c.1587-101A>G c.4047-101A>G (n.4047-101A>G) c.263-101A>G c.4227-101A>G (n.4227-101A>G) c.3894-101A>G (n.3894-101A>G) | gnomAD v4 |
| 7 | g.117665360T>C | CA2684649269 | CFTR | c.*346-99T>C (n.*346-99T>C) c.*3851-99T>C (n.*3851-99T>C) c.3954-99T>C (n.3954-99T>C) c.*350-99T>C (n.*350-99T>C) c.*790-99T>C (n.*790-99T>C) c.4137-99T>C (n.4137-99T>C) c.*798-99T>C (n.*798-99T>C) c.*2512-99T>C (n.*2512-99T>C) c.4131-99T>C (n.4131-99T>C) c.*3961-99T>C (n.*3961-99T>C) c.3711-99T>C (n.3711-99T>C) n.2305-99T>C c.1001-99T>C (n.1001-99T>C) c.1924-99T>C (n.1924-99T>C) c.719-99T>C c.1587-99T>C c.4047-99T>C (n.4047-99T>C) c.263-99T>C c.4227-99T>C (n.4227-99T>C) c.3894-99T>C (n.3894-99T>C) | gnomAD v4 |
| 7 | g.117665361A>T | CA2684649270 | CFTR | c.*346-98A>T (n.*346-98A>T) c.*3851-98A>T (n.*3851-98A>T) c.3954-98A>T (n.3954-98A>T) c.*350-98A>T (n.*350-98A>T) c.*790-98A>T (n.*790-98A>T) c.4137-98A>T (n.4137-98A>T) c.*798-98A>T (n.*798-98A>T) c.*2512-98A>T (n.*2512-98A>T) c.4131-98A>T (n.4131-98A>T) c.*3961-98A>T (n.*3961-98A>T) c.3711-98A>T (n.3711-98A>T) n.2305-98A>T c.1001-98A>T (n.1001-98A>T) c.1924-98A>T (n.1924-98A>T) c.719-98A>T c.1587-98A>T c.4047-98A>T (n.4047-98A>T) c.263-98A>T c.4227-98A>T (n.4227-98A>T) c.3894-98A>T (n.3894-98A>T) | gnomAD v4 |
| 7 | g.117665361_117665362insC | CA2538121245 | CFTR | c.*346-98_*346-97insC (n.*346-98_*346-97insC) c.*3851-98_*3851-97insC (n.*3851-98_*3851-97insC) c.3954-98_3954-97insC (n.3954-98_3954-97insC) c.*350-98_*350-97insC (n.*350-98_*350-97insC) c.*790-98_*790-97insC (n.*790-98_*790-97insC) c.4137-98_4137-97insC (n.4137-98_4137-97insC) c.*798-98_*798-97insC (n.*798-98_*798-97insC) c.*2512-98_*2512-97insC (n.*2512-98_*2512-97insC) c.4131-98_4131-97insC (n.4131-98_4131-97insC) c.*3961-98_*3961-97insC (n.*3961-98_*3961-97insC) c.3711-98_3711-97insC (n.3711-98_3711-97insC) n.2305-98_2305-97insC c.1001-98_1001-97insC (n.1001-98_1001-97insC) c.1924-98_1924-97insC (n.1924-98_1924-97insC) c.719-98_719-97insC c.1587-98_1587-97insC c.4047-98_4047-97insC (n.4047-98_4047-97insC) c.263-98_263-97insC c.4227-98_4227-97insC (n.4227-98_4227-97insC) c.3894-98_3894-97insC (n.3894-98_3894-97insC) | |
| 7 | g.117665363T>A | CA1106320492 | CFTR | c.*346-96T>A (n.*346-96T>A) c.*3851-96T>A (n.*3851-96T>A) c.3954-96T>A (n.3954-96T>A) c.*350-96T>A (n.*350-96T>A) c.*790-96T>A (n.*790-96T>A) c.4137-96T>A (n.4137-96T>A) c.*798-96T>A (n.*798-96T>A) c.*2512-96T>A (n.*2512-96T>A) c.4131-96T>A (n.4131-96T>A) c.*3961-96T>A (n.*3961-96T>A) c.3711-96T>A (n.3711-96T>A) n.2305-96T>A c.1001-96T>A (n.1001-96T>A) c.1924-96T>A (n.1924-96T>A) c.719-96T>A c.1587-96T>A c.4047-96T>A (n.4047-96T>A) c.263-96T>A c.4227-96T>A (n.4227-96T>A) c.3894-96T>A (n.3894-96T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117665363T>C | CA2684649271 | CFTR | c.*346-96T>C (n.*346-96T>C) c.*3851-96T>C (n.*3851-96T>C) c.3954-96T>C (n.3954-96T>C) c.*350-96T>C (n.*350-96T>C) c.*790-96T>C (n.*790-96T>C) c.4137-96T>C (n.4137-96T>C) c.*798-96T>C (n.*798-96T>C) c.*2512-96T>C (n.*2512-96T>C) c.4131-96T>C (n.4131-96T>C) c.*3961-96T>C (n.*3961-96T>C) c.3711-96T>C (n.3711-96T>C) n.2305-96T>C c.1001-96T>C (n.1001-96T>C) c.1924-96T>C (n.1924-96T>C) c.719-96T>C c.1587-96T>C c.4047-96T>C (n.4047-96T>C) c.263-96T>C c.4227-96T>C (n.4227-96T>C) c.3894-96T>C (n.3894-96T>C) | gnomAD v4 |
| 7 | g.117665363T= | CA1737422670 | CFTR | c.*346-96T= (n.*346-96T=) c.*3851-96T= (n.*3851-96T=) c.3954-96T= (n.3954-96T=) c.*350-96T= (n.*350-96T=) c.*790-96T= (n.*790-96T=) c.4137-96T= (n.4137-96T=) c.*798-96T= (n.*798-96T=) c.*2512-96T= (n.*2512-96T=) c.4131-96T= (n.4131-96T=) c.*3961-96T= (n.*3961-96T=) c.3711-96T= (n.3711-96T=) n.2305-96T= c.1001-96T= (n.1001-96T=) c.1924-96T= (n.1924-96T=) c.719-96T= c.1587-96T= c.4047-96T= (n.4047-96T=) c.263-96T= c.4227-96T= (n.4227-96T=) c.3894-96T= (n.3894-96T=) | |
| 7 | g.117665365T>A | CA2684649272 | CFTR | c.*346-94T>A (n.*346-94T>A) c.*3851-94T>A (n.*3851-94T>A) c.3954-94T>A (n.3954-94T>A) c.*350-94T>A (n.*350-94T>A) c.*790-94T>A (n.*790-94T>A) c.4137-94T>A (n.4137-94T>A) c.*798-94T>A (n.*798-94T>A) c.*2512-94T>A (n.*2512-94T>A) c.4131-94T>A (n.4131-94T>A) c.*3961-94T>A (n.*3961-94T>A) c.3711-94T>A (n.3711-94T>A) n.2305-94T>A c.1001-94T>A (n.1001-94T>A) c.1924-94T>A (n.1924-94T>A) c.719-94T>A c.1587-94T>A c.4047-94T>A (n.4047-94T>A) c.263-94T>A c.4227-94T>A (n.4227-94T>A) c.3894-94T>A (n.3894-94T>A) | gnomAD v4 |
| 7 | g.117665366A= | CA1737422671 | CFTR | c.*346-93A= (n.*346-93A=) c.*3851-93A= (n.*3851-93A=) c.3954-93A= (n.3954-93A=) c.*350-93A= (n.*350-93A=) c.*790-93A= (n.*790-93A=) c.4137-93A= (n.4137-93A=) c.*798-93A= (n.*798-93A=) c.*2512-93A= (n.*2512-93A=) c.4131-93A= (n.4131-93A=) c.*3961-93A= (n.*3961-93A=) c.3711-93A= (n.3711-93A=) n.2305-93A= c.1001-93A= (n.1001-93A=) c.1924-93A= (n.1924-93A=) c.719-93A= c.1587-93A= c.4047-93A= (n.4047-93A=) c.263-93A= c.4227-93A= (n.4227-93A=) c.3894-93A= (n.3894-93A=) | |
| 7 | g.117665366A>G | CA1106320507 | CFTR | c.*346-93A>G (n.*346-93A>G) c.*3851-93A>G (n.*3851-93A>G) c.3954-93A>G (n.3954-93A>G) c.*350-93A>G (n.*350-93A>G) c.*790-93A>G (n.*790-93A>G) c.4137-93A>G (n.4137-93A>G) c.*798-93A>G (n.*798-93A>G) c.*2512-93A>G (n.*2512-93A>G) c.4131-93A>G (n.4131-93A>G) c.*3961-93A>G (n.*3961-93A>G) c.3711-93A>G (n.3711-93A>G) n.2305-93A>G c.1001-93A>G (n.1001-93A>G) c.1924-93A>G (n.1924-93A>G) c.719-93A>G c.1587-93A>G c.4047-93A>G (n.4047-93A>G) c.263-93A>G c.4227-93A>G (n.4227-93A>G) c.3894-93A>G (n.3894-93A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117665368A>G | CA2579000426 | CFTR | c.*346-91A>G (n.*346-91A>G) c.*3851-91A>G (n.*3851-91A>G) c.3954-91A>G (n.3954-91A>G) c.*350-91A>G (n.*350-91A>G) c.*790-91A>G (n.*790-91A>G) c.4137-91A>G (n.4137-91A>G) c.*798-91A>G (n.*798-91A>G) c.*2512-91A>G (n.*2512-91A>G) c.4131-91A>G (n.4131-91A>G) c.*3961-91A>G (n.*3961-91A>G) c.3711-91A>G (n.3711-91A>G) n.2305-91A>G c.1001-91A>G (n.1001-91A>G) c.1924-91A>G (n.1924-91A>G) c.719-91A>G c.1587-91A>G c.4047-91A>G (n.4047-91A>G) c.263-91A>G c.4227-91A>G (n.4227-91A>G) c.3894-91A>G (n.3894-91A>G) | gnomAD v4 |
| 7 | g.117665371_117665372dup | CA2684649273 | CFTR | c.*346-88_*346-87dup (n.*346-88_*346-87dup) c.*3851-88_*3851-87dup (n.*3851-88_*3851-87dup) c.3954-88_3954-87dup (n.3954-88_3954-87dup) c.*350-88_*350-87dup (n.*350-88_*350-87dup) c.*790-88_*790-87dup (n.*790-88_*790-87dup) c.4137-88_4137-87dup (n.4137-88_4137-87dup) c.*798-88_*798-87dup (n.*798-88_*798-87dup) c.*2512-88_*2512-87dup (n.*2512-88_*2512-87dup) c.4131-88_4131-87dup (n.4131-88_4131-87dup) c.*3961-88_*3961-87dup (n.*3961-88_*3961-87dup) c.3711-88_3711-87dup (n.3711-88_3711-87dup) n.2305-88_2305-87dup c.1001-88_1001-87dup (n.1001-88_1001-87dup) c.1924-88_1924-87dup (n.1924-88_1924-87dup) c.719-88_719-87dup c.1587-88_1587-87dup c.4047-88_4047-87dup (n.4047-88_4047-87dup) c.263-88_263-87dup c.4227-88_4227-87dup (n.4227-88_4227-87dup) c.3894-88_3894-87dup (n.3894-88_3894-87dup) | gnomAD v4 |
| 7 | g.117665369G>C | CA2603608864 | CFTR | c.*346-90G>C (n.*346-90G>C) c.*3851-90G>C (n.*3851-90G>C) c.3954-90G>C (n.3954-90G>C) c.*350-90G>C (n.*350-90G>C) c.*790-90G>C (n.*790-90G>C) c.4137-90G>C (n.4137-90G>C) c.*798-90G>C (n.*798-90G>C) c.*2512-90G>C (n.*2512-90G>C) c.4131-90G>C (n.4131-90G>C) c.*3961-90G>C (n.*3961-90G>C) c.3711-90G>C (n.3711-90G>C) n.2305-90G>C c.1001-90G>C (n.1001-90G>C) c.1924-90G>C (n.1924-90G>C) c.719-90G>C c.1587-90G>C c.4047-90G>C (n.4047-90G>C) c.263-90G>C c.4227-90G>C (n.4227-90G>C) c.3894-90G>C (n.3894-90G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117665369G>T | CA2684649274 | CFTR | c.*346-90G>T (n.*346-90G>T) c.*3851-90G>T (n.*3851-90G>T) c.3954-90G>T (n.3954-90G>T) c.*350-90G>T (n.*350-90G>T) c.*790-90G>T (n.*790-90G>T) c.4137-90G>T (n.4137-90G>T) c.*798-90G>T (n.*798-90G>T) c.*2512-90G>T (n.*2512-90G>T) c.4131-90G>T (n.4131-90G>T) c.*3961-90G>T (n.*3961-90G>T) c.3711-90G>T (n.3711-90G>T) n.2305-90G>T c.1001-90G>T (n.1001-90G>T) c.1924-90G>T (n.1924-90G>T) c.719-90G>T c.1587-90G>T c.4047-90G>T (n.4047-90G>T) c.263-90G>T c.4227-90G>T (n.4227-90G>T) c.3894-90G>T (n.3894-90G>T) | gnomAD v4 |
| 7 | g.117665370A= | CA1737422672 | CFTR | c.*346-89A= (n.*346-89A=) c.*3851-89A= (n.*3851-89A=) c.3954-89A= (n.3954-89A=) c.*350-89A= (n.*350-89A=) c.*790-89A= (n.*790-89A=) c.4137-89A= (n.4137-89A=) c.*798-89A= (n.*798-89A=) c.*2512-89A= (n.*2512-89A=) c.4131-89A= (n.4131-89A=) c.*3961-89A= (n.*3961-89A=) c.3711-89A= (n.3711-89A=) n.2305-89A= c.1001-89A= (n.1001-89A=) c.1924-89A= (n.1924-89A=) c.719-89A= c.1587-89A= c.4047-89A= (n.4047-89A=) c.263-89A= c.4227-89A= (n.4227-89A=) c.3894-89A= (n.3894-89A=) | |
| 7 | g.117665370A>G | CA164960532 | CFTR | c.*346-89A>G (n.*346-89A>G) c.*3851-89A>G (n.*3851-89A>G) c.3954-89A>G (n.3954-89A>G) c.*350-89A>G (n.*350-89A>G) c.*790-89A>G (n.*790-89A>G) c.4137-89A>G (n.4137-89A>G) c.*798-89A>G (n.*798-89A>G) c.*2512-89A>G (n.*2512-89A>G) c.4131-89A>G (n.4131-89A>G) c.*3961-89A>G (n.*3961-89A>G) c.3711-89A>G (n.3711-89A>G) n.2305-89A>G c.1001-89A>G (n.1001-89A>G) c.1924-89A>G (n.1924-89A>G) c.719-89A>G c.1587-89A>G c.4047-89A>G (n.4047-89A>G) c.263-89A>G c.4227-89A>G (n.4227-89A>G) c.3894-89A>G (n.3894-89A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117665371G>T | CA2684649275 | CFTR | c.*346-88G>T (n.*346-88G>T) c.*3851-88G>T (n.*3851-88G>T) c.3954-88G>T (n.3954-88G>T) c.*350-88G>T (n.*350-88G>T) c.*790-88G>T (n.*790-88G>T) c.4137-88G>T (n.4137-88G>T) c.*798-88G>T (n.*798-88G>T) c.*2512-88G>T (n.*2512-88G>T) c.4131-88G>T (n.4131-88G>T) c.*3961-88G>T (n.*3961-88G>T) c.3711-88G>T (n.3711-88G>T) n.2305-88G>T c.1001-88G>T (n.1001-88G>T) c.1924-88G>T (n.1924-88G>T) c.719-88G>T c.1587-88G>T c.4047-88G>T (n.4047-88G>T) c.263-88G>T c.4227-88G>T (n.4227-88G>T) c.3894-88G>T (n.3894-88G>T) | gnomAD v4 |
| 7 | g.117665372A= | CA1737422673 | CFTR | c.*346-87A= (n.*346-87A=) c.*3851-87A= (n.*3851-87A=) c.3954-87A= (n.3954-87A=) c.*350-87A= (n.*350-87A=) c.*790-87A= (n.*790-87A=) c.4137-87A= (n.4137-87A=) c.*798-87A= (n.*798-87A=) c.*2512-87A= (n.*2512-87A=) c.4131-87A= (n.4131-87A=) c.*3961-87A= (n.*3961-87A=) c.3711-87A= (n.3711-87A=) n.2305-87A= c.1001-87A= (n.1001-87A=) c.1924-87A= (n.1924-87A=) c.719-87A= c.1587-87A= c.4047-87A= (n.4047-87A=) c.263-87A= c.4227-87A= (n.4227-87A=) c.3894-87A= (n.3894-87A=) | |
| 7 | g.117665372A>G | CA832122208 | CFTR | c.*346-87A>G (n.*346-87A>G) c.*3851-87A>G (n.*3851-87A>G) c.3954-87A>G (n.3954-87A>G) c.*350-87A>G (n.*350-87A>G) c.*790-87A>G (n.*790-87A>G) c.4137-87A>G (n.4137-87A>G) c.*798-87A>G (n.*798-87A>G) c.*2512-87A>G (n.*2512-87A>G) c.4131-87A>G (n.4131-87A>G) c.*3961-87A>G (n.*3961-87A>G) c.3711-87A>G (n.3711-87A>G) n.2305-87A>G c.1001-87A>G (n.1001-87A>G) c.1924-87A>G (n.1924-87A>G) c.719-87A>G c.1587-87A>G c.4047-87A>G (n.4047-87A>G) c.263-87A>G c.4227-87A>G (n.4227-87A>G) c.3894-87A>G (n.3894-87A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117665373T>A | CA2684649276 | CFTR | c.*346-86T>A (n.*346-86T>A) c.*3851-86T>A (n.*3851-86T>A) c.3954-86T>A (n.3954-86T>A) c.*350-86T>A (n.*350-86T>A) c.*790-86T>A (n.*790-86T>A) c.4137-86T>A (n.4137-86T>A) c.*798-86T>A (n.*798-86T>A) c.*2512-86T>A (n.*2512-86T>A) c.4131-86T>A (n.4131-86T>A) c.*3961-86T>A (n.*3961-86T>A) c.3711-86T>A (n.3711-86T>A) n.2305-86T>A c.1001-86T>A (n.1001-86T>A) c.1924-86T>A (n.1924-86T>A) c.719-86T>A c.1587-86T>A c.4047-86T>A (n.4047-86T>A) c.263-86T>A c.4227-86T>A (n.4227-86T>A) c.3894-86T>A (n.3894-86T>A) | gnomAD v4 |
| 7 | g.117665373T>G | CA2684649277 | CFTR | c.*346-86T>G (n.*346-86T>G) c.*3851-86T>G (n.*3851-86T>G) c.3954-86T>G (n.3954-86T>G) c.*350-86T>G (n.*350-86T>G) c.*790-86T>G (n.*790-86T>G) c.4137-86T>G (n.4137-86T>G) c.*798-86T>G (n.*798-86T>G) c.*2512-86T>G (n.*2512-86T>G) c.4131-86T>G (n.4131-86T>G) c.*3961-86T>G (n.*3961-86T>G) c.3711-86T>G (n.3711-86T>G) n.2305-86T>G c.1001-86T>G (n.1001-86T>G) c.1924-86T>G (n.1924-86T>G) c.719-86T>G c.1587-86T>G c.4047-86T>G (n.4047-86T>G) c.263-86T>G c.4227-86T>G (n.4227-86T>G) c.3894-86T>G (n.3894-86T>G) | gnomAD v4 |
| 7 | g.117665374A= | CA1737422674 | CFTR | c.*346-85A= (n.*346-85A=) c.*3851-85A= (n.*3851-85A=) c.3954-85A= (n.3954-85A=) c.*350-85A= (n.*350-85A=) c.*790-85A= (n.*790-85A=) c.4137-85A= (n.4137-85A=) c.*798-85A= (n.*798-85A=) c.*2512-85A= (n.*2512-85A=) c.4131-85A= (n.4131-85A=) c.*3961-85A= (n.*3961-85A=) c.3711-85A= (n.3711-85A=) n.2305-85A= c.1001-85A= (n.1001-85A=) c.1924-85A= (n.1924-85A=) c.719-85A= c.1587-85A= c.4047-85A= (n.4047-85A=) c.263-85A= c.4227-85A= (n.4227-85A=) c.3894-85A= (n.3894-85A=) | |
| 7 | g.117665374A>G | CA832122209 | CFTR | c.*346-85A>G (n.*346-85A>G) c.*3851-85A>G (n.*3851-85A>G) c.3954-85A>G (n.3954-85A>G) c.*350-85A>G (n.*350-85A>G) c.*790-85A>G (n.*790-85A>G) c.4137-85A>G (n.4137-85A>G) c.*798-85A>G (n.*798-85A>G) c.*2512-85A>G (n.*2512-85A>G) c.4131-85A>G (n.4131-85A>G) c.*3961-85A>G (n.*3961-85A>G) c.3711-85A>G (n.3711-85A>G) n.2305-85A>G c.1001-85A>G (n.1001-85A>G) c.1924-85A>G (n.1924-85A>G) c.719-85A>G c.1587-85A>G c.4047-85A>G (n.4047-85A>G) c.263-85A>G c.4227-85A>G (n.4227-85A>G) c.3894-85A>G (n.3894-85A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117665375A= | CA1737422675 | CFTR | c.*346-84A= (n.*346-84A=) c.*3851-84A= (n.*3851-84A=) c.3954-84A= (n.3954-84A=) c.*350-84A= (n.*350-84A=) c.*790-84A= (n.*790-84A=) c.4137-84A= (n.4137-84A=) c.*798-84A= (n.*798-84A=) c.*2512-84A= (n.*2512-84A=) c.4131-84A= (n.4131-84A=) c.*3961-84A= (n.*3961-84A=) c.3711-84A= (n.3711-84A=) n.2305-84A= c.1001-84A= (n.1001-84A=) c.1924-84A= (n.1924-84A=) c.719-84A= c.1587-84A= c.4047-84A= (n.4047-84A=) c.263-84A= c.4227-84A= (n.4227-84A=) c.3894-84A= (n.3894-84A=) |