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.117664687_117664688delinsTT | CA2580076352 | CFTR | c.*173-1_*173delinsTT c.*3678-1_*3678delinsTT c.3781-1_3781delinsTT c.*177-1_*177delinsTT c.*617-1_*617delinsTT c.3964-1_3964delinsTT c.*625-1_*625delinsTT c.*2339-1_*2339delinsTT c.3958-1_3958delinsTT c.*3788-1_*3788delinsTT c.3538-1_3538delinsTT n.2132-1_2132delinsTT c.828-1_828delinsTT c.1751-1_1751delinsTT c.546-1_546delinsTT c.1414-1_1414delinsTT c.3874-1_3874delinsTT c.90-1_90delinsTT c.4054-1_4054delinsTT c.3721-1_3721delinsTT | ClinVar |
| 7 | g.117664689_117664693dup | CA577680854 | CFTR | c.*174_*178dup c.*3679_*3683dup c.3782_3786dup c.*178_*182dup c.*618_*622dup c.3965_3969dup c.*626_*630dup c.*2340_*2344dup c.3959_3963dup c.*3789_*3793dup c.3539_3543dup n.2133_2137dup c.829_833dup c.1752_1756dup c.547_551dup c.1415_1419dup c.3875_3879dup c.91_95dup c.4055_4059dup c.3722_3726dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 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.117664688G>A | CA4451603 | CFTR | c.*173G>A (n.*173G>A) c.*3678G>A (n.*3678G>A) c.3781G>A (p.Val1261Ile) c.*177G>A (n.*177G>A) c.*617G>A (n.*617G>A) c.3964G>A (p.Val1322Ile) c.*625G>A (n.*625G>A) c.*2339G>A (n.*2339G>A) c.3958G>A (p.Val1320Ile) c.*3788G>A (n.*3788G>A) c.3538G>A (p.Val1180Ile) n.2132G>A c.828G>A (n.828G>A) c.1751G>A (n.1751G>A) c.546G>A c.1414G>A c.3874G>A (p.Val1292Ile) c.90G>A c.4054G>A (p.Val1352Ile) c.3721G>A (p.Val1241Ile) | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.117664688G>C | CA368981694 | CFTR | c.*173G>C (n.*173G>C) c.*3678G>C (n.*3678G>C) c.3781G>C (p.Val1261Leu) c.*177G>C (n.*177G>C) c.*617G>C (n.*617G>C) c.3964G>C (p.Val1322Leu) c.*625G>C (n.*625G>C) c.*2339G>C (n.*2339G>C) c.3958G>C (p.Val1320Leu) c.*3788G>C (n.*3788G>C) c.3538G>C (p.Val1180Leu) n.2132G>C c.828G>C (n.828G>C) c.1751G>C (n.1751G>C) c.546G>C c.1414G>C c.3874G>C (p.Val1292Leu) c.90G>C c.4054G>C (p.Val1352Leu) c.3721G>C (p.Val1241Leu) | |
| 7 | g.117664688G= | CA1737421713 | CFTR | c.*173G= (n.*173G=) c.*3678G= (n.*3678G=) c.3781G= (p.Val1261=) c.*177G= (n.*177G=) c.*617G= (n.*617G=) c.3964G= (p.Val1322=) c.*625G= (n.*625G=) c.*2339G= (n.*2339G=) c.3958G= (p.Val1320=) c.*3788G= (n.*3788G=) c.3538G= (p.Val1180=) n.2132G= c.828G= (n.828G=) c.1751G= (n.1751G=) c.546G= c.1414G= c.3874G= (p.Val1292=) c.90G= c.4054G= (p.Val1352=) c.3721G= (p.Val1241=) | |
| 7 | g.117664688G>T | CA4451604 | CFTR | c.*173G>T (n.*173G>T) c.*3678G>T (n.*3678G>T) c.3781G>T (p.Val1261Phe) c.*177G>T (n.*177G>T) c.*617G>T (n.*617G>T) c.3964G>T (p.Val1322Phe) c.*625G>T (n.*625G>T) c.*2339G>T (n.*2339G>T) c.3958G>T (p.Val1320Phe) c.*3788G>T (n.*3788G>T) c.3538G>T (p.Val1180Phe) n.2132G>T c.828G>T (n.828G>T) c.1751G>T (n.1751G>T) c.546G>T c.1414G>T c.3874G>T (p.Val1292Phe) c.90G>T c.4054G>T (p.Val1352Phe) c.3721G>T (p.Val1241Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117664689T>A | CA368981699 | CFTR | c.*174T>A (n.*174T>A) c.*3679T>A (n.*3679T>A) c.3782T>A (p.Val1261Asp) c.*178T>A (n.*178T>A) c.*618T>A (n.*618T>A) c.3965T>A (p.Val1322Asp) c.*626T>A (n.*626T>A) c.*2340T>A (n.*2340T>A) c.3959T>A (p.Val1320Asp) c.*3789T>A (n.*3789T>A) c.3539T>A (p.Val1180Asp) n.2133T>A c.829T>A (n.829T>A) c.1752T>A (n.1752T>A) c.547T>A c.1415T>A c.3875T>A (p.Val1292Asp) c.91T>A c.4055T>A (p.Val1352Asp) c.3722T>A (p.Val1241Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117664689T>C | CA368981706 | CFTR | c.*174T>C (n.*174T>C) c.*3679T>C (n.*3679T>C) c.3782T>C (p.Val1261Ala) c.*178T>C (n.*178T>C) c.*618T>C (n.*618T>C) c.3965T>C (p.Val1322Ala) c.*626T>C (n.*626T>C) c.*2340T>C (n.*2340T>C) c.3959T>C (p.Val1320Ala) c.*3789T>C (n.*3789T>C) c.3539T>C (p.Val1180Ala) n.2133T>C c.829T>C (n.829T>C) c.1752T>C (n.1752T>C) c.547T>C c.1415T>C c.3875T>C (p.Val1292Ala) c.91T>C c.4055T>C (p.Val1352Ala) c.3722T>C (p.Val1241Ala) | |
| 7 | g.117664689T>G | CA368981711 | CFTR | c.*174T>G (n.*174T>G) c.*3679T>G (n.*3679T>G) c.3782T>G (p.Val1261Gly) c.*178T>G (n.*178T>G) c.*618T>G (n.*618T>G) c.3965T>G (p.Val1322Gly) c.*626T>G (n.*626T>G) c.*2340T>G (n.*2340T>G) c.3959T>G (p.Val1320Gly) c.*3789T>G (n.*3789T>G) c.3539T>G (p.Val1180Gly) n.2133T>G c.829T>G (n.829T>G) c.1752T>G (n.1752T>G) c.547T>G c.1415T>G c.3875T>G (p.Val1292Gly) c.91T>G c.4055T>G (p.Val1352Gly) c.3722T>G (p.Val1241Gly) | |
| 7 | g.117664689T= | CA1737421714 | CFTR | c.*174T= (n.*174T=) c.*3679T= (n.*3679T=) c.3782T= (p.Val1261=) c.*178T= (n.*178T=) c.*618T= (n.*618T=) c.3965T= (p.Val1322=) c.*626T= (n.*626T=) c.*2340T= (n.*2340T=) c.3959T= (p.Val1320=) c.*3789T= (n.*3789T=) c.3539T= (p.Val1180=) n.2133T= c.829T= (n.829T=) c.1752T= (n.1752T=) c.547T= c.1415T= c.3875T= (p.Val1292=) c.91T= c.4055T= (p.Val1352=) c.3722T= (p.Val1241=) | |
| 7 | g.117664690T>A | CA457230250 | CFTR | c.*175T>A (n.*175T>A) c.*3680T>A (n.*3680T>A) c.3783T>A (p.Val1261=) c.*179T>A (n.*179T>A) c.*619T>A (n.*619T>A) c.3966T>A (p.Val1322=) c.*627T>A (n.*627T>A) c.*2341T>A (n.*2341T>A) c.3960T>A (p.Val1320=) c.*3790T>A (n.*3790T>A) c.3540T>A (p.Val1180=) n.2134T>A c.830T>A (n.830T>A) c.1753T>A (n.1753T>A) c.548T>A c.1416T>A c.3876T>A (p.Val1292=) c.92T>A c.4056T>A (p.Val1352=) c.3723T>A (p.Val1241=) | ClinVar |
| 7 | g.117664690T>C | CA457230251 | CFTR | c.*175T>C (n.*175T>C) c.*3680T>C (n.*3680T>C) c.3783T>C (p.Val1261=) c.*179T>C (n.*179T>C) c.*619T>C (n.*619T>C) c.3966T>C (p.Val1322=) c.*627T>C (n.*627T>C) c.*2341T>C (n.*2341T>C) c.3960T>C (p.Val1320=) c.*3790T>C (n.*3790T>C) c.3540T>C (p.Val1180=) n.2134T>C c.830T>C (n.830T>C) c.1753T>C (n.1753T>C) c.548T>C c.1416T>C c.3876T>C (p.Val1292=) c.92T>C c.4056T>C (p.Val1352=) c.3723T>C (p.Val1241=) | |
| 7 | g.117664690T>G | CA457230252 | CFTR | c.*175T>G (n.*175T>G) c.*3680T>G (n.*3680T>G) c.3783T>G (p.Val1261=) c.*179T>G (n.*179T>G) c.*619T>G (n.*619T>G) c.3966T>G (p.Val1322=) c.*627T>G (n.*627T>G) c.*2341T>G (n.*2341T>G) c.3960T>G (p.Val1320=) c.*3790T>G (n.*3790T>G) c.3540T>G (p.Val1180=) n.2134T>G c.830T>G (n.830T>G) c.1753T>G (n.1753T>G) c.548T>G c.1416T>G c.3876T>G (p.Val1292=) c.92T>G c.4056T>G (p.Val1352=) c.3723T>G (p.Val1241=) | |
| 7 | g.117664691G>A | CA368981715 | CFTR | c.*176G>A (n.*176G>A) c.*3681G>A (n.*3681G>A) c.3784G>A (p.Gly1262Arg) c.*180G>A (n.*180G>A) c.*620G>A (n.*620G>A) c.3967G>A (p.Gly1323Arg) c.*628G>A (n.*628G>A) c.*2342G>A (n.*2342G>A) c.3961G>A (p.Gly1321Arg) c.*3791G>A (n.*3791G>A) c.3541G>A (p.Gly1181Arg) n.2135G>A c.831G>A (n.831G>A) c.1754G>A (n.1754G>A) c.549G>A c.1417G>A c.3877G>A (p.Gly1293Arg) c.93G>A c.4057G>A (p.Gly1353Arg) c.3724G>A (p.Gly1242Arg) | |
| 7 | g.117664691G>C | CA368981713 | CFTR | c.*176G>C (n.*176G>C) c.*3681G>C (n.*3681G>C) c.3784G>C (p.Gly1262Arg) c.*180G>C (n.*180G>C) c.*620G>C (n.*620G>C) c.3967G>C (p.Gly1323Arg) c.*628G>C (n.*628G>C) c.*2342G>C (n.*2342G>C) c.3961G>C (p.Gly1321Arg) c.*3791G>C (n.*3791G>C) c.3541G>C (p.Gly1181Arg) n.2135G>C c.831G>C (n.831G>C) c.1754G>C (n.1754G>C) c.549G>C c.1417G>C c.3877G>C (p.Gly1293Arg) c.93G>C c.4057G>C (p.Gly1353Arg) c.3724G>C (p.Gly1242Arg) | |
| 7 | g.117664691G>T | CA368981712 | CFTR | c.*176G>T (n.*176G>T) c.*3681G>T (n.*3681G>T) c.3784G>T (p.Gly1262Trp) c.*180G>T (n.*180G>T) c.*620G>T (n.*620G>T) c.3967G>T (p.Gly1323Trp) c.*628G>T (n.*628G>T) c.*2342G>T (n.*2342G>T) c.3961G>T (p.Gly1321Trp) c.*3791G>T (n.*3791G>T) c.3541G>T (p.Gly1181Trp) n.2135G>T c.831G>T (n.831G>T) c.1754G>T (n.1754G>T) c.549G>T c.1417G>T c.3877G>T (p.Gly1293Trp) c.93G>T c.4057G>T (p.Gly1353Trp) c.3724G>T (p.Gly1242Trp) | |
| 7 | g.117664692G>A | CA368981722 | CFTR | c.*177G>A (n.*177G>A) c.*3682G>A (n.*3682G>A) c.3785G>A (p.Gly1262Glu) c.*181G>A (n.*181G>A) c.*621G>A (n.*621G>A) c.3968G>A (p.Gly1323Glu) c.*629G>A (n.*629G>A) c.*2343G>A (n.*2343G>A) c.3962G>A (p.Gly1321Glu) c.*3792G>A (n.*3792G>A) c.3542G>A (p.Gly1181Glu) n.2136G>A c.832G>A (n.832G>A) c.1755G>A (n.1755G>A) c.550G>A c.1418G>A c.3878G>A (p.Gly1293Glu) c.94G>A c.4058G>A (p.Gly1353Glu) c.3725G>A (p.Gly1242Glu) | gnomAD v4 |
| 7 | g.117664692G>C | CA368981726 | CFTR | c.*177G>C (n.*177G>C) c.*3682G>C (n.*3682G>C) c.3785G>C (p.Gly1262Ala) c.*181G>C (n.*181G>C) c.*621G>C (n.*621G>C) c.3968G>C (p.Gly1323Ala) c.*629G>C (n.*629G>C) c.*2343G>C (n.*2343G>C) c.3962G>C (p.Gly1321Ala) c.*3792G>C (n.*3792G>C) c.3542G>C (p.Gly1181Ala) n.2136G>C c.832G>C (n.832G>C) c.1755G>C (n.1755G>C) c.550G>C c.1418G>C c.3878G>C (p.Gly1293Ala) c.94G>C c.4058G>C (p.Gly1353Ala) c.3725G>C (p.Gly1242Ala) | |
| 7 | g.117664692G>T | CA368981741 | CFTR | c.*177G>T (n.*177G>T) c.*3682G>T (n.*3682G>T) c.3785G>T (p.Gly1262Val) c.*181G>T (n.*181G>T) c.*621G>T (n.*621G>T) c.3968G>T (p.Gly1323Val) c.*629G>T (n.*629G>T) c.*2343G>T (n.*2343G>T) c.3962G>T (p.Gly1321Val) c.*3792G>T (n.*3792G>T) c.3542G>T (p.Gly1181Val) n.2136G>T c.832G>T (n.832G>T) c.1755G>T (n.1755G>T) c.550G>T c.1418G>T c.3878G>T (p.Gly1293Val) c.94G>T c.4058G>T (p.Gly1353Val) c.3725G>T (p.Gly1242Val) | |
| 7 | g.117664693G>A | CA10625183 | CFTR | c.*178G>A (n.*178G>A) c.*3683G>A (n.*3683G>A) c.3786G>A (p.Gly1262=) c.*182G>A (n.*182G>A) c.*622G>A (n.*622G>A) c.3969G>A (p.Gly1323=) c.*630G>A (n.*630G>A) c.*2344G>A (n.*2344G>A) c.3963G>A (p.Gly1321=) c.*3793G>A (n.*3793G>A) c.3543G>A (p.Gly1181=) n.2137G>A c.833G>A (n.833G>A) c.1756G>A (n.1756G>A) c.551G>A c.1419G>A c.3879G>A (p.Gly1293=) c.95G>A c.4059G>A (p.Gly1353=) c.3726G>A (p.Gly1242=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117664693G>C | CA457230254 | CFTR | c.*178G>C (n.*178G>C) c.*3683G>C (n.*3683G>C) c.3786G>C (p.Gly1262=) c.*182G>C (n.*182G>C) c.*622G>C (n.*622G>C) c.3969G>C (p.Gly1323=) c.*630G>C (n.*630G>C) c.*2344G>C (n.*2344G>C) c.3963G>C (p.Gly1321=) c.*3793G>C (n.*3793G>C) c.3543G>C (p.Gly1181=) n.2137G>C c.833G>C (n.833G>C) c.1756G>C (n.1756G>C) c.551G>C c.1419G>C c.3879G>C (p.Gly1293=) c.95G>C c.4059G>C (p.Gly1353=) c.3726G>C (p.Gly1242=) | |
| 7 | g.117664693G= | CA1737421721 | CFTR | c.*178G= (n.*178G=) c.*3683G= (n.*3683G=) c.3786G= (p.Gly1262=) c.*182G= (n.*182G=) c.*622G= (n.*622G=) c.3969G= (p.Gly1323=) c.*630G= (n.*630G=) c.*2344G= (n.*2344G=) c.3963G= (p.Gly1321=) c.*3793G= (n.*3793G=) c.3543G= (p.Gly1181=) n.2137G= c.833G= (n.833G=) c.1756G= (n.1756G=) c.551G= c.1419G= c.3879G= (p.Gly1293=) c.95G= c.4059G= (p.Gly1353=) c.3726G= (p.Gly1242=) | |
| 7 | g.117664693G>T | CA457230255 | CFTR | c.*178G>T (n.*178G>T) c.*3683G>T (n.*3683G>T) c.3786G>T (p.Gly1262=) c.*182G>T (n.*182G>T) c.*622G>T (n.*622G>T) c.3969G>T (p.Gly1323=) c.*630G>T (n.*630G>T) c.*2344G>T (n.*2344G>T) c.3963G>T (p.Gly1321=) c.*3793G>T (n.*3793G>T) c.3543G>T (p.Gly1181=) n.2137G>T c.833G>T (n.833G>T) c.1756G>T (n.1756G>T) c.551G>T c.1419G>T c.3879G>T (p.Gly1293=) c.95G>T c.4059G>T (p.Gly1353=) c.3726G>T (p.Gly1242=) | |
| 7 | g.117664694C>A | CA368981749 | CFTR | c.*179C>A (n.*179C>A) c.*3684C>A (n.*3684C>A) c.3787C>A (p.Leu1263Ile) c.*183C>A (n.*183C>A) c.*623C>A (n.*623C>A) c.3970C>A (p.Leu1324Ile) c.*631C>A (n.*631C>A) c.*2345C>A (n.*2345C>A) c.3964C>A (p.Leu1322Ile) c.*3794C>A (n.*3794C>A) c.3544C>A (p.Leu1182Ile) n.2138C>A c.834C>A (n.834C>A) c.1757C>A (n.1757C>A) c.552C>A c.1420C>A c.3880C>A (p.Leu1294Ile) c.96C>A c.4060C>A (p.Leu1354Ile) c.3727C>A (p.Leu1243Ile) | |
| 7 | g.117664694C>G | CA368981754 | CFTR | c.*179C>G (n.*179C>G) c.*3684C>G (n.*3684C>G) c.3787C>G (p.Leu1263Val) c.*183C>G (n.*183C>G) c.*623C>G (n.*623C>G) c.3970C>G (p.Leu1324Val) c.*631C>G (n.*631C>G) c.*2345C>G (n.*2345C>G) c.3964C>G (p.Leu1322Val) c.*3794C>G (n.*3794C>G) c.3544C>G (p.Leu1182Val) n.2138C>G c.834C>G (n.834C>G) c.1757C>G (n.1757C>G) c.552C>G c.1420C>G c.3880C>G (p.Leu1294Val) c.96C>G c.4060C>G (p.Leu1354Val) c.3727C>G (p.Leu1243Val) | |
| 7 | g.117664694C>T | CA368981756 | CFTR | c.*179C>T (n.*179C>T) c.*3684C>T (n.*3684C>T) c.3787C>T (p.Leu1263Phe) c.*183C>T (n.*183C>T) c.*623C>T (n.*623C>T) c.3970C>T (p.Leu1324Phe) c.*631C>T (n.*631C>T) c.*2345C>T (n.*2345C>T) c.3964C>T (p.Leu1322Phe) c.*3794C>T (n.*3794C>T) c.3544C>T (p.Leu1182Phe) n.2138C>T c.834C>T (n.834C>T) c.1757C>T (n.1757C>T) c.552C>T c.1420C>T c.3880C>T (p.Leu1294Phe) c.96C>T c.4060C>T (p.Leu1354Phe) c.3727C>T (p.Leu1243Phe) | ClinVar |
| 7 | g.117664695_117664696del | CA2684649156 | CFTR | c.*180_*181del (n.*180_*181del) c.*3685_*3686del (n.*3685_*3686del) c.3788_3789del (p.Leu1263GlnfsTer12) c.*184_*185del (n.*184_*185del) c.*624_*625del (n.*624_*625del) c.3971_3972del (p.Leu1324GlnfsTer12) c.*632_*633del (n.*632_*633del) c.*2346_*2347del (n.*2346_*2347del) c.3965_3966del (p.Leu1322GlnfsTer12) c.*3795_*3796del (n.*3795_*3796del) c.3545_3546del (p.Leu1182GlnfsTer12) n.2139_2140del c.835_836del (n.835_836del) c.1758_1759del (n.1758_1759del) c.553_554del c.1421_1422del c.3881_3882del (p.Leu1294GlnfsTer12) c.97_98del c.4061_4062del (p.Leu1354GlnfsTer12) c.3728_3729del (p.Leu1243GlnfsTer12) | gnomAD v4 |
| 7 | g.117664695T>A | CA368981767 | CFTR | c.*180T>A (n.*180T>A) c.*3685T>A (n.*3685T>A) c.3788T>A (p.Leu1263His) c.*184T>A (n.*184T>A) c.*624T>A (n.*624T>A) c.3971T>A (p.Leu1324His) c.*632T>A (n.*632T>A) c.*2346T>A (n.*2346T>A) c.3965T>A (p.Leu1322His) c.*3795T>A (n.*3795T>A) c.3545T>A (p.Leu1182His) n.2139T>A c.835T>A (n.835T>A) c.1758T>A (n.1758T>A) c.553T>A c.1421T>A c.3881T>A (p.Leu1294His) c.97T>A c.4061T>A (p.Leu1354His) c.3728T>A (p.Leu1243His) | |
| 7 | g.117664695T>C | CA327367 | CFTR | c.*180T>C (n.*180T>C) c.*3685T>C (n.*3685T>C) c.3788T>C (p.Leu1263Pro) c.*184T>C (n.*184T>C) c.*624T>C (n.*624T>C) c.3971T>C (p.Leu1324Pro) c.*632T>C (n.*632T>C) c.*2346T>C (n.*2346T>C) c.3965T>C (p.Leu1322Pro) c.*3795T>C (n.*3795T>C) c.3545T>C (p.Leu1182Pro) n.2139T>C c.835T>C (n.835T>C) c.1758T>C (n.1758T>C) c.553T>C c.1421T>C c.3881T>C (p.Leu1294Pro) c.97T>C c.4061T>C (p.Leu1354Pro) c.3728T>C (p.Leu1243Pro) | ClinVar dbSNP |
| 7 | g.117664695T>G | CA368981769 | CFTR | c.*180T>G (n.*180T>G) c.*3685T>G (n.*3685T>G) c.3788T>G (p.Leu1263Arg) c.*184T>G (n.*184T>G) c.*624T>G (n.*624T>G) c.3971T>G (p.Leu1324Arg) c.*632T>G (n.*632T>G) c.*2346T>G (n.*2346T>G) c.3965T>G (p.Leu1322Arg) c.*3795T>G (n.*3795T>G) c.3545T>G (p.Leu1182Arg) n.2139T>G c.835T>G (n.835T>G) c.1758T>G (n.1758T>G) c.553T>G c.1421T>G c.3881T>G (p.Leu1294Arg) c.97T>G c.4061T>G (p.Leu1354Arg) c.3728T>G (p.Leu1243Arg) | |
| 7 | g.117664695T= | CA1737421728 | CFTR | c.*180T= (n.*180T=) c.*3685T= (n.*3685T=) c.3788T= (p.Leu1263=) c.*184T= (n.*184T=) c.*624T= (n.*624T=) c.3971T= (p.Leu1324=) c.*632T= (n.*632T=) c.*2346T= (n.*2346T=) c.3965T= (p.Leu1322=) c.*3795T= (n.*3795T=) c.3545T= (p.Leu1182=) n.2139T= c.835T= (n.835T=) c.1758T= (n.1758T=) c.553T= c.1421T= c.3881T= (p.Leu1294=) c.97T= c.4061T= (p.Leu1354=) c.3728T= (p.Leu1243=) | |
| 7 | g.117664695_117664696delinsTC | CA1737421731 | CFTR | c.*180_*181delinsTC (n.*180_*181delinsTC) c.*3685_*3686delinsTC (n.*3685_*3686delinsTC) c.3788_3789delinsTC (p.Leu1263=) c.*184_*185delinsTC (n.*184_*185delinsTC) c.*624_*625delinsTC (n.*624_*625delinsTC) c.3971_3972delinsTC (p.Leu1324=) c.*632_*633delinsTC (n.*632_*633delinsTC) c.*2346_*2347delinsTC (n.*2346_*2347delinsTC) c.3965_3966delinsTC (p.Leu1322=) c.*3795_*3796delinsTC (n.*3795_*3796delinsTC) c.3545_3546delinsTC (p.Leu1182=) n.2139_2140delinsTC c.835_836delinsTC (n.835_836delinsTC) c.1758_1759delinsTC (n.1758_1759delinsTC) c.553_554delinsTC c.1421_1422delinsTC c.3881_3882delinsTC (p.Leu1294=) c.97_98delinsTC c.4061_4062delinsTC (p.Leu1354=) c.3728_3729delinsTC (p.Leu1243=) | |
| 7 | g.117664696del | CA915945452 | CFTR | c.*181del (n.*181del) c.*3686del (n.*3686del) c.3789del (p.Arg1264AspfsTer3) c.*185del (n.*185del) c.*625del (n.*625del) c.3972del (p.Arg1325AspfsTer3) c.*633del (n.*633del) c.*2347del (n.*2347del) c.3966del (p.Arg1323AspfsTer3) c.*3796del (n.*3796del) c.3546del (p.Arg1183AspfsTer3) n.2140del c.836del (n.836del) c.1759del (n.1759del) c.554del c.1422del c.3882del (p.Arg1295AspfsTer3) c.98del c.4062del (p.Arg1355AspfsTer3) c.3729del (p.Arg1244AspfsTer3) | ClinVar dbSNP |
| 7 | g.117664696C>A | CA457230256 | CFTR | c.*181C>A (n.*181C>A) c.*3686C>A (n.*3686C>A) c.3789C>A (p.Leu1263=) c.*185C>A (n.*185C>A) c.*625C>A (n.*625C>A) c.3972C>A (p.Leu1324=) c.*633C>A (n.*633C>A) c.*2347C>A (n.*2347C>A) c.3966C>A (p.Leu1322=) c.*3796C>A (n.*3796C>A) c.3546C>A (p.Leu1182=) n.2140C>A c.836C>A (n.836C>A) c.1759C>A (n.1759C>A) c.554C>A c.1422C>A c.3882C>A (p.Leu1294=) c.98C>A c.4062C>A (p.Leu1354=) c.3729C>A (p.Leu1243=) | |
| 7 | g.117664696C>G | CA457230257 | CFTR | c.*181C>G (n.*181C>G) c.*3686C>G (n.*3686C>G) c.3789C>G (p.Leu1263=) c.*185C>G (n.*185C>G) c.*625C>G (n.*625C>G) c.3972C>G (p.Leu1324=) c.*633C>G (n.*633C>G) c.*2347C>G (n.*2347C>G) c.3966C>G (p.Leu1322=) c.*3796C>G (n.*3796C>G) c.3546C>G (p.Leu1182=) n.2140C>G c.836C>G (n.836C>G) c.1759C>G (n.1759C>G) c.554C>G c.1422C>G c.3882C>G (p.Leu1294=) c.98C>G c.4062C>G (p.Leu1354=) c.3729C>G (p.Leu1243=) | ClinVar |
| 7 | g.117664696C>T | CA457230258 | CFTR | c.*181C>T (n.*181C>T) c.*3686C>T (n.*3686C>T) c.3789C>T (p.Leu1263=) c.*185C>T (n.*185C>T) c.*625C>T (n.*625C>T) c.3972C>T (p.Leu1324=) c.*633C>T (n.*633C>T) c.*2347C>T (n.*2347C>T) c.3966C>T (p.Leu1322=) c.*3796C>T (n.*3796C>T) c.3546C>T (p.Leu1182=) n.2140C>T c.836C>T (n.836C>T) c.1759C>T (n.1759C>T) c.554C>T c.1422C>T c.3882C>T (p.Leu1294=) c.98C>T c.4062C>T (p.Leu1354=) c.3729C>T (p.Leu1243=) | ClinVar |
| 7 | g.117664697A= | CA1737421737 | CFTR | c.*182A= (n.*182A=) c.*3687A= (n.*3687A=) c.3790A= (p.Arg1264=) c.*186A= (n.*186A=) c.*626A= (n.*626A=) c.3973A= (p.Arg1325=) c.*634A= (n.*634A=) c.*2348A= (n.*2348A=) c.3967A= (p.Arg1323=) c.*3797A= (n.*3797A=) c.3547A= (p.Arg1183=) n.2141A= c.837A= (n.837A=) c.1760A= (n.1760A=) c.555A= c.1423A= c.3883A= (p.Arg1295=) c.99A= c.4063A= (p.Arg1355=) c.3730A= (p.Arg1244=) | |
| 7 | g.117664697A>C | CA457230260 | CFTR | c.*182A>C (n.*182A>C) c.*3687A>C (n.*3687A>C) c.3790A>C (p.Arg1264=) c.*186A>C (n.*186A>C) c.*626A>C (n.*626A>C) c.3973A>C (p.Arg1325=) c.*634A>C (n.*634A>C) c.*2348A>C (n.*2348A>C) c.3967A>C (p.Arg1323=) c.*3797A>C (n.*3797A>C) c.3547A>C (p.Arg1183=) n.2141A>C c.837A>C (n.837A>C) c.1760A>C (n.1760A>C) c.555A>C c.1423A>C c.3883A>C (p.Arg1295=) c.99A>C c.4063A>C (p.Arg1355=) c.3730A>C (p.Arg1244=) | ClinVar dbSNP |
| 7 | g.117664697A>G | CA368981772 | CFTR | c.*182A>G (n.*182A>G) c.*3687A>G (n.*3687A>G) c.3790A>G (p.Arg1264Gly) c.*186A>G (n.*186A>G) c.*626A>G (n.*626A>G) c.3973A>G (p.Arg1325Gly) c.*634A>G (n.*634A>G) c.*2348A>G (n.*2348A>G) c.3967A>G (p.Arg1323Gly) c.*3797A>G (n.*3797A>G) c.3547A>G (p.Arg1183Gly) n.2141A>G c.837A>G (n.837A>G) c.1760A>G (n.1760A>G) c.555A>G c.1423A>G c.3883A>G (p.Arg1295Gly) c.99A>G c.4063A>G (p.Arg1355Gly) c.3730A>G (p.Arg1244Gly) | dbSNP |
| 7 | g.117664697A>T | CA368981773 | CFTR | c.*182A>T (n.*182A>T) c.*3687A>T (n.*3687A>T) c.3790A>T (p.Arg1264Ter) c.*186A>T (n.*186A>T) c.*626A>T (n.*626A>T) c.3973A>T (p.Arg1325Ter) c.*634A>T (n.*634A>T) c.*2348A>T (n.*2348A>T) c.3967A>T (p.Arg1323Ter) c.*3797A>T (n.*3797A>T) c.3547A>T (p.Arg1183Ter) n.2141A>T c.837A>T (n.837A>T) c.1760A>T (n.1760A>T) c.555A>T c.1423A>T c.3883A>T (p.Arg1295Ter) c.99A>T c.4063A>T (p.Arg1355Ter) c.3730A>T (p.Arg1244Ter) | |
| 7 | g.117664698G>A | CA368981779 | CFTR | c.*183G>A (n.*183G>A) c.*3688G>A (n.*3688G>A) c.3791G>A (p.Arg1264Lys) c.*187G>A (n.*187G>A) c.*627G>A (n.*627G>A) c.3974G>A (p.Arg1325Lys) c.*635G>A (n.*635G>A) c.*2349G>A (n.*2349G>A) c.3968G>A (p.Arg1323Lys) c.*3798G>A (n.*3798G>A) c.3548G>A (p.Arg1183Lys) n.2142G>A c.838G>A (n.838G>A) c.1761G>A (n.1761G>A) c.556G>A c.1424G>A c.3884G>A (p.Arg1295Lys) c.100G>A c.4064G>A (p.Arg1355Lys) c.3731G>A (p.Arg1244Lys) | |
| 7 | g.117664698G>C | CA368981780 | CFTR | c.*183G>C (n.*183G>C) c.*3688G>C (n.*3688G>C) c.3791G>C (p.Arg1264Thr) c.*187G>C (n.*187G>C) c.*627G>C (n.*627G>C) c.3974G>C (p.Arg1325Thr) c.*635G>C (n.*635G>C) c.*2349G>C (n.*2349G>C) c.3968G>C (p.Arg1323Thr) c.*3798G>C (n.*3798G>C) c.3548G>C (p.Arg1183Thr) n.2142G>C c.838G>C (n.838G>C) c.1761G>C (n.1761G>C) c.556G>C c.1424G>C c.3884G>C (p.Arg1295Thr) c.100G>C c.4064G>C (p.Arg1355Thr) c.3731G>C (p.Arg1244Thr) | |
| 7 | g.117664698G>T | CA368981778 | CFTR | c.*183G>T (n.*183G>T) c.*3688G>T (n.*3688G>T) c.3791G>T (p.Arg1264Ile) c.*187G>T (n.*187G>T) c.*627G>T (n.*627G>T) c.3974G>T (p.Arg1325Ile) c.*635G>T (n.*635G>T) c.*2349G>T (n.*2349G>T) c.3968G>T (p.Arg1323Ile) c.*3798G>T (n.*3798G>T) c.3548G>T (p.Arg1183Ile) n.2142G>T c.838G>T (n.838G>T) c.1761G>T (n.1761G>T) c.556G>T c.1424G>T c.3884G>T (p.Arg1295Ile) c.100G>T c.4064G>T (p.Arg1355Ile) c.3731G>T (p.Arg1244Ile) | |
| 7 | g.117664698_117664699insGTTGTTCT | CA2684649157 | CFTR | c.*183_*184insGTTGTTCT (n.*183_*184insGTTGTTCT) c.*3688_*3689insGTTGTTCT (n.*3688_*3689insGTTGTTCT) c.3791_3792insGTTGTTCT (p.Ser1265LeufsTer5) c.*187_*188insGTTGTTCT (n.*187_*188insGTTGTTCT) c.*627_*628insGTTGTTCT (n.*627_*628insGTTGTTCT) c.3974_3975insGTTGTTCT (p.Ser1326LeufsTer5) c.*635_*636insGTTGTTCT (n.*635_*636insGTTGTTCT) c.*2349_*2350insGTTGTTCT (n.*2349_*2350insGTTGTTCT) c.3968_3969insGTTGTTCT (p.Ser1324LeufsTer5) c.*3798_*3799insGTTGTTCT (n.*3798_*3799insGTTGTTCT) c.3548_3549insGTTGTTCT (p.Ser1184LeufsTer5) n.2142_2143insGTTGTTCT c.838_839insGTTGTTCT (n.838_839insGTTGTTCT) c.1761_1762insGTTGTTCT (n.1761_1762insGTTGTTCT) c.556_557insGTTGTTCT c.1424_1425insGTTGTTCT c.3884_3885insGTTGTTCT (p.Ser1296LeufsTer5) c.100_101insGTTGTTCT c.4064_4065insGTTGTTCT (p.Ser1356LeufsTer5) c.3731_3732insGTTGTTCT (p.Ser1245LeufsTer5) | gnomAD v4 |
| 7 | g.117664699A= | CA1737421743 | CFTR | c.*184A= (n.*184A=) c.*3689A= (n.*3689A=) c.3792A= (p.Arg1264=) c.*188A= (n.*188A=) c.*628A= (n.*628A=) c.3975A= (p.Arg1325=) c.*636A= (n.*636A=) c.*2350A= (n.*2350A=) c.3969A= (p.Arg1323=) c.*3799A= (n.*3799A=) c.3549A= (p.Arg1183=) n.2143A= c.839A= (n.839A=) c.1762A= (n.1762A=) c.557A= c.1425A= c.3885A= (p.Arg1295=) c.101A= c.4065A= (p.Arg1355=) c.3732A= (p.Arg1244=) |