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.117664740T>A | CA368982226 | CFTR | c.*225T>A (n.*225T>A) c.*3730T>A (n.*3730T>A) c.3833T>A (p.Leu1278His) c.*229T>A (n.*229T>A) c.*669T>A (n.*669T>A) c.4016T>A (p.Leu1339His) c.*677T>A (n.*677T>A) c.*2391T>A (n.*2391T>A) c.4010T>A (p.Leu1337His) c.*3840T>A (n.*3840T>A) c.3590T>A (p.Leu1197His) n.2184T>A c.880T>A (n.880T>A) c.1803T>A (n.1803T>A) c.598T>A c.1466T>A c.3926T>A (p.Leu1309His) c.142T>A c.4106T>A (p.Leu1369His) c.3773T>A (p.Leu1258His) | |
| 7 | g.117664740T>C | CA4451608 | CFTR | c.*225T>C (n.*225T>C) c.*3730T>C (n.*3730T>C) c.3833T>C (p.Leu1278Pro) c.*229T>C (n.*229T>C) c.*669T>C (n.*669T>C) c.4016T>C (p.Leu1339Pro) c.*677T>C (n.*677T>C) c.*2391T>C (n.*2391T>C) c.4010T>C (p.Leu1337Pro) c.*3840T>C (n.*3840T>C) c.3590T>C (p.Leu1197Pro) n.2184T>C c.880T>C (n.880T>C) c.1803T>C (n.1803T>C) c.598T>C c.1466T>C c.3926T>C (p.Leu1309Pro) c.142T>C c.4106T>C (p.Leu1369Pro) c.3773T>C (p.Leu1258Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117664740T>G | CA368982228 | CFTR | c.*225T>G (n.*225T>G) c.*3730T>G (n.*3730T>G) c.3833T>G (p.Leu1278Arg) c.*229T>G (n.*229T>G) c.*669T>G (n.*669T>G) c.4016T>G (p.Leu1339Arg) c.*677T>G (n.*677T>G) c.*2391T>G (n.*2391T>G) c.4010T>G (p.Leu1337Arg) c.*3840T>G (n.*3840T>G) c.3590T>G (p.Leu1197Arg) n.2184T>G c.880T>G (n.880T>G) c.1803T>G (n.1803T>G) c.598T>G c.1466T>G c.3926T>G (p.Leu1309Arg) c.142T>G c.4106T>G (p.Leu1369Arg) c.3773T>G (p.Leu1258Arg) | |
| 7 | g.117664740T= | CA1737421849 | CFTR | c.*225T= (n.*225T=) c.*3730T= (n.*3730T=) c.3833T= (p.Leu1278=) c.*229T= (n.*229T=) c.*669T= (n.*669T=) c.4016T= (p.Leu1339=) c.*677T= (n.*677T=) c.*2391T= (n.*2391T=) c.4010T= (p.Leu1337=) c.*3840T= (n.*3840T=) c.3590T= (p.Leu1197=) n.2184T= c.880T= (n.880T=) c.1803T= (n.1803T=) c.598T= c.1466T= c.3926T= (p.Leu1309=) c.142T= c.4106T= (p.Leu1369=) c.3773T= (p.Leu1258=) | |
| 7 | g.117664741T>A | CA457230288 | CFTR | c.*226T>A (n.*226T>A) c.*3731T>A (n.*3731T>A) c.3834T>A (p.Leu1278=) c.*230T>A (n.*230T>A) c.*670T>A (n.*670T>A) c.4017T>A (p.Leu1339=) c.*678T>A (n.*678T>A) c.*2392T>A (n.*2392T>A) c.4011T>A (p.Leu1337=) c.*3841T>A (n.*3841T>A) c.3591T>A (p.Leu1197=) n.2185T>A c.881T>A (n.881T>A) c.1804T>A (n.1804T>A) c.599T>A c.1467T>A c.3927T>A (p.Leu1309=) c.143T>A c.4107T>A (p.Leu1369=) c.3774T>A (p.Leu1258=) | |
| 7 | g.117664741T>C | CA457230289 | CFTR | c.*226T>C (n.*226T>C) c.*3731T>C (n.*3731T>C) c.3834T>C (p.Leu1278=) c.*230T>C (n.*230T>C) c.*670T>C (n.*670T>C) c.4017T>C (p.Leu1339=) c.*678T>C (n.*678T>C) c.*2392T>C (n.*2392T>C) c.4011T>C (p.Leu1337=) c.*3841T>C (n.*3841T>C) c.3591T>C (p.Leu1197=) n.2185T>C c.881T>C (n.881T>C) c.1804T>C (n.1804T>C) c.599T>C c.1467T>C c.3927T>C (p.Leu1309=) c.143T>C c.4107T>C (p.Leu1369=) c.3774T>C (p.Leu1258=) | |
| 7 | g.117664741T>G | CA457230290 | CFTR | c.*226T>G (n.*226T>G) c.*3731T>G (n.*3731T>G) c.3834T>G (p.Leu1278=) c.*230T>G (n.*230T>G) c.*670T>G (n.*670T>G) c.4017T>G (p.Leu1339=) c.*678T>G (n.*678T>G) c.*2392T>G (n.*2392T>G) c.4011T>G (p.Leu1337=) c.*3841T>G (n.*3841T>G) c.3591T>G (p.Leu1197=) n.2185T>G c.881T>G (n.881T>G) c.1804T>G (n.1804T>G) c.599T>G c.1467T>G c.3927T>G (p.Leu1309=) c.143T>G c.4107T>G (p.Leu1369=) c.3774T>G (p.Leu1258=) | |
| 7 | g.117664742G>A | CA368982235 | CFTR | c.*227G>A (n.*227G>A) c.*3732G>A (n.*3732G>A) c.3835G>A (p.Val1279Met) c.*231G>A (n.*231G>A) c.*671G>A (n.*671G>A) c.4018G>A (p.Val1340Met) c.*679G>A (n.*679G>A) c.*2393G>A (n.*2393G>A) c.4012G>A (p.Val1338Met) c.*3842G>A (n.*3842G>A) c.3592G>A (p.Val1198Met) n.2186G>A c.882G>A (n.882G>A) c.1805G>A (n.1805G>A) c.600G>A c.1468G>A c.3928G>A (p.Val1310Met) c.144G>A c.4108G>A (p.Val1370Met) c.3775G>A (p.Val1259Met) | |
| 7 | g.117664742G>C | CA368982236 | CFTR | c.*227G>C (n.*227G>C) c.*3732G>C (n.*3732G>C) c.3835G>C (p.Val1279Leu) c.*231G>C (n.*231G>C) c.*671G>C (n.*671G>C) c.4018G>C (p.Val1340Leu) c.*679G>C (n.*679G>C) c.*2393G>C (n.*2393G>C) c.4012G>C (p.Val1338Leu) c.*3842G>C (n.*3842G>C) c.3592G>C (p.Val1198Leu) n.2186G>C c.882G>C (n.882G>C) c.1805G>C (n.1805G>C) c.600G>C c.1468G>C c.3928G>C (p.Val1310Leu) c.144G>C c.4108G>C (p.Val1370Leu) c.3775G>C (p.Val1259Leu) | ClinVar dbSNP |
| 7 | g.117664742G= | CA1737421852 | CFTR | c.*227G= (n.*227G=) c.*3732G= (n.*3732G=) c.3835G= (p.Val1279=) c.*231G= (n.*231G=) c.*671G= (n.*671G=) c.4018G= (p.Val1340=) c.*679G= (n.*679G=) c.*2393G= (n.*2393G=) c.4012G= (p.Val1338=) c.*3842G= (n.*3842G=) c.3592G= (p.Val1198=) n.2186G= c.882G= (n.882G=) c.1805G= (n.1805G=) c.600G= c.1468G= c.3928G= (p.Val1310=) c.144G= c.4108G= (p.Val1370=) c.3775G= (p.Val1259=) | |
| 7 | g.117664742G>T | CA368982237 | CFTR | c.*227G>T (n.*227G>T) c.*3732G>T (n.*3732G>T) c.3835G>T (p.Val1279Leu) c.*231G>T (n.*231G>T) c.*671G>T (n.*671G>T) c.4018G>T (p.Val1340Leu) c.*679G>T (n.*679G>T) c.*2393G>T (n.*2393G>T) c.4012G>T (p.Val1338Leu) c.*3842G>T (n.*3842G>T) c.3592G>T (p.Val1198Leu) n.2186G>T c.882G>T (n.882G>T) c.1805G>T (n.1805G>T) c.600G>T c.1468G>T c.3928G>T (p.Val1310Leu) c.144G>T c.4108G>T (p.Val1370Leu) c.3775G>T (p.Val1259Leu) | |
| 7 | g.117664743T>A | CA368982240 | CFTR | c.*228T>A (n.*228T>A) c.*3733T>A (n.*3733T>A) c.3836T>A (p.Val1279Glu) c.*232T>A (n.*232T>A) c.*672T>A (n.*672T>A) c.4019T>A (p.Val1340Glu) c.*680T>A (n.*680T>A) c.*2394T>A (n.*2394T>A) c.4013T>A (p.Val1338Glu) c.*3843T>A (n.*3843T>A) c.3593T>A (p.Val1198Glu) n.2187T>A c.883T>A (n.883T>A) c.1806T>A (n.1806T>A) c.601T>A c.1469T>A c.3929T>A (p.Val1310Glu) c.145T>A c.4109T>A (p.Val1370Glu) c.3776T>A (p.Val1259Glu) | ClinVar gnomAD v4 |
| 7 | g.117664743T>C | CA368982251 | CFTR | c.*228T>C (n.*228T>C) c.*3733T>C (n.*3733T>C) c.3836T>C (p.Val1279Ala) c.*232T>C (n.*232T>C) c.*672T>C (n.*672T>C) c.4019T>C (p.Val1340Ala) c.*680T>C (n.*680T>C) c.*2394T>C (n.*2394T>C) c.4013T>C (p.Val1338Ala) c.*3843T>C (n.*3843T>C) c.3593T>C (p.Val1198Ala) n.2187T>C c.883T>C (n.883T>C) c.1806T>C (n.1806T>C) c.601T>C c.1469T>C c.3929T>C (p.Val1310Ala) c.145T>C c.4109T>C (p.Val1370Ala) c.3776T>C (p.Val1259Ala) | |
| 7 | g.117664743T>G | CA368982255 | CFTR | c.*228T>G (n.*228T>G) c.*3733T>G (n.*3733T>G) c.3836T>G (p.Val1279Gly) c.*232T>G (n.*232T>G) c.*672T>G (n.*672T>G) c.4019T>G (p.Val1340Gly) c.*680T>G (n.*680T>G) c.*2394T>G (n.*2394T>G) c.4013T>G (p.Val1338Gly) c.*3843T>G (n.*3843T>G) c.3593T>G (p.Val1198Gly) n.2187T>G c.883T>G (n.883T>G) c.1806T>G (n.1806T>G) c.601T>G c.1469T>G c.3929T>G (p.Val1310Gly) c.145T>G c.4109T>G (p.Val1370Gly) c.3776T>G (p.Val1259Gly) | dbSNP |
| 7 | g.117664743T= | CA1737421859 | CFTR | c.*228T= (n.*228T=) c.*3733T= (n.*3733T=) c.3836T= (p.Val1279=) c.*232T= (n.*232T=) c.*672T= (n.*672T=) c.4019T= (p.Val1340=) c.*680T= (n.*680T=) c.*2394T= (n.*2394T=) c.4013T= (p.Val1338=) c.*3843T= (n.*3843T=) c.3593T= (p.Val1198=) n.2187T= c.883T= (n.883T=) c.1806T= (n.1806T=) c.601T= c.1469T= c.3929T= (p.Val1310=) c.145T= c.4109T= (p.Val1370=) c.3776T= (p.Val1259=) | |
| 7 | g.117664744G>A | CA457230293 | CFTR | c.*229G>A (n.*229G>A) c.*3734G>A (n.*3734G>A) c.3837G>A (p.Val1279=) c.*233G>A (n.*233G>A) c.*673G>A (n.*673G>A) c.4020G>A (p.Val1340=) c.*681G>A (n.*681G>A) c.*2395G>A (n.*2395G>A) c.4014G>A (p.Val1338=) c.*3844G>A (n.*3844G>A) c.3594G>A (p.Val1198=) n.2188G>A c.884G>A (n.884G>A) c.1807G>A (n.1807G>A) c.602G>A c.1470G>A c.3930G>A (p.Val1310=) c.146G>A c.4110G>A (p.Val1370=) c.3777G>A (p.Val1259=) | ClinVar COSMIC |
| 7 | g.117664744G>C | CA457230291 | CFTR | c.*229G>C (n.*229G>C) c.*3734G>C (n.*3734G>C) c.3837G>C (p.Val1279=) c.*233G>C (n.*233G>C) c.*673G>C (n.*673G>C) c.4020G>C (p.Val1340=) c.*681G>C (n.*681G>C) c.*2395G>C (n.*2395G>C) c.4014G>C (p.Val1338=) c.*3844G>C (n.*3844G>C) c.3594G>C (p.Val1198=) n.2188G>C c.884G>C (n.884G>C) c.1807G>C (n.1807G>C) c.602G>C c.1470G>C c.3930G>C (p.Val1310=) c.146G>C c.4110G>C (p.Val1370=) c.3777G>C (p.Val1259=) | |
| 7 | g.117664744G>T | CA457230292 | CFTR | c.*229G>T (n.*229G>T) c.*3734G>T (n.*3734G>T) c.3837G>T (p.Val1279=) c.*233G>T (n.*233G>T) c.*673G>T (n.*673G>T) c.4020G>T (p.Val1340=) c.*681G>T (n.*681G>T) c.*2395G>T (n.*2395G>T) c.4014G>T (p.Val1338=) c.*3844G>T (n.*3844G>T) c.3594G>T (p.Val1198=) n.2188G>T c.884G>T (n.884G>T) c.1807G>T (n.1807G>T) c.602G>T c.1470G>T c.3930G>T (p.Val1310=) c.146G>T c.4110G>T (p.Val1370=) c.3777G>T (p.Val1259=) | |
| 7 | g.117664745G>A | CA368982259 | CFTR | c.*230G>A (n.*230G>A) c.*3735G>A (n.*3735G>A) c.3838G>A (p.Asp1280Asn) c.*234G>A (n.*234G>A) c.*674G>A (n.*674G>A) c.4021G>A (p.Asp1341Asn) c.*682G>A (n.*682G>A) c.*2396G>A (n.*2396G>A) c.4015G>A (p.Asp1339Asn) c.*3845G>A (n.*3845G>A) c.3595G>A (p.Asp1199Asn) n.2189G>A c.885G>A (n.885G>A) c.1808G>A (n.1808G>A) c.603G>A c.1471G>A c.3931G>A (p.Asp1311Asn) c.147G>A c.4111G>A (p.Asp1371Asn) c.3778G>A (p.Asp1260Asn) | |
| 7 | g.117664745G>C | CA368982263 | CFTR | c.*230G>C (n.*230G>C) c.*3735G>C (n.*3735G>C) c.3838G>C (p.Asp1280His) c.*234G>C (n.*234G>C) c.*674G>C (n.*674G>C) c.4021G>C (p.Asp1341His) c.*682G>C (n.*682G>C) c.*2396G>C (n.*2396G>C) c.4015G>C (p.Asp1339His) c.*3845G>C (n.*3845G>C) c.3595G>C (p.Asp1199His) n.2189G>C c.885G>C (n.885G>C) c.1808G>C (n.1808G>C) c.603G>C c.1471G>C c.3931G>C (p.Asp1311His) c.147G>C c.4111G>C (p.Asp1371His) c.3778G>C (p.Asp1260His) | |
| 7 | g.117664745G>T | CA368982264 | CFTR | c.*230G>T (n.*230G>T) c.*3735G>T (n.*3735G>T) c.3838G>T (p.Asp1280Tyr) c.*234G>T (n.*234G>T) c.*674G>T (n.*674G>T) c.4021G>T (p.Asp1341Tyr) c.*682G>T (n.*682G>T) c.*2396G>T (n.*2396G>T) c.4015G>T (p.Asp1339Tyr) c.*3845G>T (n.*3845G>T) c.3595G>T (p.Asp1199Tyr) n.2189G>T c.885G>T (n.885G>T) c.1808G>T (n.1808G>T) c.603G>T c.1471G>T c.3931G>T (p.Asp1311Tyr) c.147G>T c.4111G>T (p.Asp1371Tyr) c.3778G>T (p.Asp1260Tyr) | |
| 7 | g.117664746A= | CA1737421864 | CFTR | c.*231A= (n.*231A=) c.*3736A= (n.*3736A=) c.3839A= (p.Asp1280=) c.*235A= (n.*235A=) c.*675A= (n.*675A=) c.4022A= (p.Asp1341=) c.*683A= (n.*683A=) c.*2397A= (n.*2397A=) c.4016A= (p.Asp1339=) c.*3846A= (n.*3846A=) c.3596A= (p.Asp1199=) n.2190A= c.886A= (n.886A=) c.1809A= (n.1809A=) c.604A= c.1472A= c.3932A= (p.Asp1311=) c.148A= c.4112A= (p.Asp1371=) c.3779A= (p.Asp1260=) | |
| 7 | g.117664746A>C | CA368982265 | CFTR | c.*231A>C (n.*231A>C) c.*3736A>C (n.*3736A>C) c.3839A>C (p.Asp1280Ala) c.*235A>C (n.*235A>C) c.*675A>C (n.*675A>C) c.4022A>C (p.Asp1341Ala) c.*683A>C (n.*683A>C) c.*2397A>C (n.*2397A>C) c.4016A>C (p.Asp1339Ala) c.*3846A>C (n.*3846A>C) c.3596A>C (p.Asp1199Ala) n.2190A>C c.886A>C (n.886A>C) c.1809A>C (n.1809A>C) c.604A>C c.1472A>C c.3932A>C (p.Asp1311Ala) c.148A>C c.4112A>C (p.Asp1371Ala) c.3779A>C (p.Asp1260Ala) | |
| 7 | g.117664746A>G | CA4451609 | CFTR | c.*231A>G (n.*231A>G) c.*3736A>G (n.*3736A>G) c.3839A>G (p.Asp1280Gly) c.*235A>G (n.*235A>G) c.*675A>G (n.*675A>G) c.4022A>G (p.Asp1341Gly) c.*683A>G (n.*683A>G) c.*2397A>G (n.*2397A>G) c.4016A>G (p.Asp1339Gly) c.*3846A>G (n.*3846A>G) c.3596A>G (p.Asp1199Gly) n.2190A>G c.886A>G (n.886A>G) c.1809A>G (n.1809A>G) c.604A>G c.1472A>G c.3932A>G (p.Asp1311Gly) c.148A>G c.4112A>G (p.Asp1371Gly) c.3779A>G (p.Asp1260Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117664746A>T | CA368982271 | CFTR | c.*231A>T (n.*231A>T) c.*3736A>T (n.*3736A>T) c.3839A>T (p.Asp1280Val) c.*235A>T (n.*235A>T) c.*675A>T (n.*675A>T) c.4022A>T (p.Asp1341Val) c.*683A>T (n.*683A>T) c.*2397A>T (n.*2397A>T) c.4016A>T (p.Asp1339Val) c.*3846A>T (n.*3846A>T) c.3596A>T (p.Asp1199Val) n.2190A>T c.886A>T (n.886A>T) c.1809A>T (n.1809A>T) c.604A>T c.1472A>T c.3932A>T (p.Asp1311Val) c.148A>T c.4112A>T (p.Asp1371Val) c.3779A>T (p.Asp1260Val) | |
| 7 | g.117664747del | CA2582341938 | CFTR | c.*232del (n.*232del) c.*3737del (n.*3737del) c.3840del (p.Asp1280GlufsTer6) c.*236del (n.*236del) c.*676del (n.*676del) c.4023del (p.Asp1341GlufsTer6) c.*684del (n.*684del) c.*2398del (n.*2398del) c.4017del (p.Asp1339GlufsTer6) c.*3847del (n.*3847del) c.3597del (p.Asp1199GlufsTer6) n.2191del c.887del (n.887del) c.1810del (n.1810del) c.605del c.1473del c.3933del (p.Asp1311GlufsTer6) c.149del c.4113del (p.Asp1371GlufsTer6) c.3780del (p.Asp1260GlufsTer6) | ClinVar |
| 7 | g.117664747T>A | CA368982279 | CFTR | c.*232T>A (n.*232T>A) c.*3737T>A (n.*3737T>A) c.3840T>A (p.Asp1280Glu) c.*236T>A (n.*236T>A) c.*676T>A (n.*676T>A) c.4023T>A (p.Asp1341Glu) c.*684T>A (n.*684T>A) c.*2398T>A (n.*2398T>A) c.4017T>A (p.Asp1339Glu) c.*3847T>A (n.*3847T>A) c.3597T>A (p.Asp1199Glu) n.2191T>A c.887T>A (n.887T>A) c.1810T>A (n.1810T>A) c.605T>A c.1473T>A c.3933T>A (p.Asp1311Glu) c.149T>A c.4113T>A (p.Asp1371Glu) c.3780T>A (p.Asp1260Glu) | |
| 7 | g.117664747T>C | CA457230294 | CFTR | c.*232T>C (n.*232T>C) c.*3737T>C (n.*3737T>C) c.3840T>C (p.Asp1280=) c.*236T>C (n.*236T>C) c.*676T>C (n.*676T>C) c.4023T>C (p.Asp1341=) c.*684T>C (n.*684T>C) c.*2398T>C (n.*2398T>C) c.4017T>C (p.Asp1339=) c.*3847T>C (n.*3847T>C) c.3597T>C (p.Asp1199=) n.2191T>C c.887T>C (n.887T>C) c.1810T>C (n.1810T>C) c.605T>C c.1473T>C c.3933T>C (p.Asp1311=) c.149T>C c.4113T>C (p.Asp1371=) c.3780T>C (p.Asp1260=) | |
| 7 | g.117664747T>G | CA368982285 | CFTR | c.*232T>G (n.*232T>G) c.*3737T>G (n.*3737T>G) c.3840T>G (p.Asp1280Glu) c.*236T>G (n.*236T>G) c.*676T>G (n.*676T>G) c.4023T>G (p.Asp1341Glu) c.*684T>G (n.*684T>G) c.*2398T>G (n.*2398T>G) c.4017T>G (p.Asp1339Glu) c.*3847T>G (n.*3847T>G) c.3597T>G (p.Asp1199Glu) n.2191T>G c.887T>G (n.887T>G) c.1810T>G (n.1810T>G) c.605T>G c.1473T>G c.3933T>G (p.Asp1311Glu) c.149T>G c.4113T>G (p.Asp1371Glu) c.3780T>G (p.Asp1260Glu) | |
| 7 | g.117664747_117664748delinsTG | CA1737421868 | CFTR | c.*232_*233delinsTG (n.*232_*233delinsTG) c.*3737_*3738delinsTG (n.*3737_*3738delinsTG) c.3840_3841delinsTG (p.Asp1280=) c.*236_*237delinsTG (n.*236_*237delinsTG) c.*676_*677delinsTG (n.*676_*677delinsTG) c.4023_4024delinsTG (p.Asp1341=) c.*684_*685delinsTG (n.*684_*685delinsTG) c.*2398_*2399delinsTG (n.*2398_*2399delinsTG) c.4017_4018delinsTG (p.Asp1339=) c.*3847_*3848delinsTG (n.*3847_*3848delinsTG) c.3597_3598delinsTG (p.Asp1199=) n.2191_2192delinsTG c.887_888delinsTG (n.887_888delinsTG) c.1810_1811delinsTG (n.1810_1811delinsTG) c.605_606delinsTG c.1473_1474delinsTG c.3933_3934delinsTG (p.Asp1311=) c.149_150delinsTG c.4113_4114delinsTG (p.Asp1371=) c.3780_3781delinsTG (p.Asp1260=) | |
| 7 | g.117664748G>A | CA368982293 | CFTR | c.*233G>A (n.*233G>A) c.*3738G>A (n.*3738G>A) c.3841G>A (p.Gly1281Arg) c.*237G>A (n.*237G>A) c.*677G>A (n.*677G>A) c.4024G>A (p.Gly1342Arg) c.*685G>A (n.*685G>A) c.*2399G>A (n.*2399G>A) c.4018G>A (p.Gly1340Arg) c.*3848G>A (n.*3848G>A) c.3598G>A (p.Gly1200Arg) n.2192G>A c.888G>A (n.888G>A) c.1811G>A (n.1811G>A) c.606G>A c.1474G>A c.3934G>A (p.Gly1312Arg) c.150G>A c.4114G>A (p.Gly1372Arg) c.3781G>A (p.Gly1261Arg) | ClinVar |
| 7 | g.117664748G>C | CA368982303 | CFTR | c.*233G>C (n.*233G>C) c.*3738G>C (n.*3738G>C) c.3841G>C (p.Gly1281Arg) c.*237G>C (n.*237G>C) c.*677G>C (n.*677G>C) c.4024G>C (p.Gly1342Arg) c.*685G>C (n.*685G>C) c.*2399G>C (n.*2399G>C) c.4018G>C (p.Gly1340Arg) c.*3848G>C (n.*3848G>C) c.3598G>C (p.Gly1200Arg) n.2192G>C c.888G>C (n.888G>C) c.1811G>C (n.1811G>C) c.606G>C c.1474G>C c.3934G>C (p.Gly1312Arg) c.150G>C c.4114G>C (p.Gly1372Arg) c.3781G>C (p.Gly1261Arg) | |
| 7 | g.117664748G>T | CA368982307 | CFTR | c.*233G>T (n.*233G>T) c.*3738G>T (n.*3738G>T) c.3841G>T (p.Gly1281Trp) c.*237G>T (n.*237G>T) c.*677G>T (n.*677G>T) c.4024G>T (p.Gly1342Trp) c.*685G>T (n.*685G>T) c.*2399G>T (n.*2399G>T) c.4018G>T (p.Gly1340Trp) c.*3848G>T (n.*3848G>T) c.3598G>T (p.Gly1200Trp) n.2192G>T c.888G>T (n.888G>T) c.1811G>T (n.1811G>T) c.606G>T c.1474G>T c.3934G>T (p.Gly1312Trp) c.150G>T c.4114G>T (p.Gly1372Trp) c.3781G>T (p.Gly1261Trp) | |
| 7 | g.117664752dup | CA2684649158 | CFTR | c.*237dup (n.*237dup) c.*3742dup (n.*3742dup) c.3845dup (p.Cys1283LeufsTer15) c.*241dup (n.*241dup) c.*681dup (n.*681dup) c.4028dup (p.Cys1344LeufsTer15) c.*689dup (n.*689dup) c.*2403dup (n.*2403dup) c.4022dup (p.Cys1342LeufsTer15) c.*3852dup (n.*3852dup) c.3602dup (p.Cys1202LeufsTer15) n.2196dup c.892dup (n.892dup) c.1815dup (n.1815dup) c.610dup c.1478dup c.3938dup (p.Cys1314LeufsTer15) c.154dup c.4118dup (p.Cys1374LeufsTer15) c.3785dup (p.Cys1263LeufsTer15) | gnomAD v4 |
| 7 | g.117664749_117664752dup | CA327384 | CFTR | c.*234_*237dup (n.*234_*237dup) c.*3739_*3742dup (n.*3739_*3742dup) c.3842_3845dup (p.Cys1283GlyfsTer16) c.*238_*241dup (n.*238_*241dup) c.*678_*681dup (n.*678_*681dup) c.4025_4028dup (p.Cys1344GlyfsTer16) c.*686_*689dup (n.*686_*689dup) c.*2400_*2403dup (n.*2400_*2403dup) c.4019_4022dup (p.Cys1342GlyfsTer16) c.*3849_*3852dup (n.*3849_*3852dup) c.3599_3602dup (p.Cys1202GlyfsTer16) n.2193_2196dup c.889_892dup (n.889_892dup) c.1812_1815dup (n.1812_1815dup) c.607_610dup c.1475_1478dup c.3935_3938dup (p.Cys1314GlyfsTer16) c.151_154dup c.4115_4118dup (p.Cys1374GlyfsTer16) c.3782_3785dup (p.Cys1263GlyfsTer16) | ClinVar dbSNP |
| 7 | g.117664752del | CA913189946 | CFTR | c.*237del (n.*237del) c.*3742del (n.*3742del) c.3845del (p.Gly1282AlafsTer4) c.*241del (n.*241del) c.*681del (n.*681del) c.4028del (p.Gly1343AlafsTer4) c.*689del (n.*689del) c.*2403del (n.*2403del) c.4022del (p.Gly1341AlafsTer4) c.*3852del (n.*3852del) c.3602del (p.Gly1201AlafsTer4) n.2196del c.892del (n.892del) c.1815del (n.1815del) c.610del c.1478del c.3938del (p.Gly1313AlafsTer4) c.154del c.4118del (p.Gly1373AlafsTer4) c.3785del (p.Gly1262AlafsTer4) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117664749G>A | CA368982319 | CFTR | c.*234G>A (n.*234G>A) c.*3739G>A (n.*3739G>A) c.3842G>A (p.Gly1281Glu) c.*238G>A (n.*238G>A) c.*678G>A (n.*678G>A) c.4025G>A (p.Gly1342Glu) c.*686G>A (n.*686G>A) c.*2400G>A (n.*2400G>A) c.4019G>A (p.Gly1340Glu) c.*3849G>A (n.*3849G>A) c.3599G>A (p.Gly1200Glu) n.2193G>A c.889G>A (n.889G>A) c.1812G>A (n.1812G>A) c.607G>A c.1475G>A c.3935G>A (p.Gly1312Glu) c.151G>A c.4115G>A (p.Gly1372Glu) c.3782G>A (p.Gly1261Glu) | ClinVar dbSNP |
| 7 | g.117664749G>C | CA368982323 | CFTR | c.*234G>C (n.*234G>C) c.*3739G>C (n.*3739G>C) c.3842G>C (p.Gly1281Ala) c.*238G>C (n.*238G>C) c.*678G>C (n.*678G>C) c.4025G>C (p.Gly1342Ala) c.*686G>C (n.*686G>C) c.*2400G>C (n.*2400G>C) c.4019G>C (p.Gly1340Ala) c.*3849G>C (n.*3849G>C) c.3599G>C (p.Gly1200Ala) n.2193G>C c.889G>C (n.889G>C) c.1812G>C (n.1812G>C) c.607G>C c.1475G>C c.3935G>C (p.Gly1312Ala) c.151G>C c.4115G>C (p.Gly1372Ala) c.3782G>C (p.Gly1261Ala) | |
| 7 | g.117664749G= | CA1737421876 | CFTR | c.*234G= (n.*234G=) c.*3739G= (n.*3739G=) c.3842G= (p.Gly1281=) c.*238G= (n.*238G=) c.*678G= (n.*678G=) c.4025G= (p.Gly1342=) c.*686G= (n.*686G=) c.*2400G= (n.*2400G=) c.4019G= (p.Gly1340=) c.*3849G= (n.*3849G=) c.3599G= (p.Gly1200=) n.2193G= c.889G= (n.889G=) c.1812G= (n.1812G=) c.607G= c.1475G= c.3935G= (p.Gly1312=) c.151G= c.4115G= (p.Gly1372=) c.3782G= (p.Gly1261=) | |
| 7 | g.117664749G>T | CA368982326 | CFTR | c.*234G>T (n.*234G>T) c.*3739G>T (n.*3739G>T) c.3842G>T (p.Gly1281Val) c.*238G>T (n.*238G>T) c.*678G>T (n.*678G>T) c.4025G>T (p.Gly1342Val) c.*686G>T (n.*686G>T) c.*2400G>T (n.*2400G>T) c.4019G>T (p.Gly1340Val) c.*3849G>T (n.*3849G>T) c.3599G>T (p.Gly1200Val) n.2193G>T c.889G>T (n.889G>T) c.1812G>T (n.1812G>T) c.607G>T c.1475G>T c.3935G>T (p.Gly1312Val) c.151G>T c.4115G>T (p.Gly1372Val) c.3782G>T (p.Gly1261Val) | ClinVar |
| 7 | g.117664750G>A | CA457230295 | CFTR | c.*235G>A (n.*235G>A) c.*3740G>A (n.*3740G>A) c.3843G>A (p.Gly1281=) c.*239G>A (n.*239G>A) c.*679G>A (n.*679G>A) c.4026G>A (p.Gly1342=) c.*687G>A (n.*687G>A) c.*2401G>A (n.*2401G>A) c.4020G>A (p.Gly1340=) c.*3850G>A (n.*3850G>A) c.3600G>A (p.Gly1200=) n.2194G>A c.890G>A (n.890G>A) c.1813G>A (n.1813G>A) c.608G>A c.1476G>A c.3936G>A (p.Gly1312=) c.152G>A c.4116G>A (p.Gly1372=) c.3783G>A (p.Gly1261=) | ClinVar |
| 7 | g.117664750G>C | CA457230296 | CFTR | c.*235G>C (n.*235G>C) c.*3740G>C (n.*3740G>C) c.3843G>C (p.Gly1281=) c.*239G>C (n.*239G>C) c.*679G>C (n.*679G>C) c.4026G>C (p.Gly1342=) c.*687G>C (n.*687G>C) c.*2401G>C (n.*2401G>C) c.4020G>C (p.Gly1340=) c.*3850G>C (n.*3850G>C) c.3600G>C (p.Gly1200=) n.2194G>C c.890G>C (n.890G>C) c.1813G>C (n.1813G>C) c.608G>C c.1476G>C c.3936G>C (p.Gly1312=) c.152G>C c.4116G>C (p.Gly1372=) c.3783G>C (p.Gly1261=) | ClinVar dbSNP |
| 7 | g.117664750G= | CA1737421881 | CFTR | c.*235G= (n.*235G=) c.*3740G= (n.*3740G=) c.3843G= (p.Gly1281=) c.*239G= (n.*239G=) c.*679G= (n.*679G=) c.4026G= (p.Gly1342=) c.*687G= (n.*687G=) c.*2401G= (n.*2401G=) c.4020G= (p.Gly1340=) c.*3850G= (n.*3850G=) c.3600G= (p.Gly1200=) n.2194G= c.890G= (n.890G=) c.1813G= (n.1813G=) c.608G= c.1476G= c.3936G= (p.Gly1312=) c.152G= c.4116G= (p.Gly1372=) c.3783G= (p.Gly1261=) | |
| 7 | g.117664750G>T | CA457230297 | CFTR | c.*235G>T (n.*235G>T) c.*3740G>T (n.*3740G>T) c.3843G>T (p.Gly1281=) c.*239G>T (n.*239G>T) c.*679G>T (n.*679G>T) c.4026G>T (p.Gly1342=) c.*687G>T (n.*687G>T) c.*2401G>T (n.*2401G>T) c.4020G>T (p.Gly1340=) c.*3850G>T (n.*3850G>T) c.3600G>T (p.Gly1200=) n.2194G>T c.890G>T (n.890G>T) c.1813G>T (n.1813G>T) c.608G>T c.1476G>T c.3936G>T (p.Gly1312=) c.152G>T c.4116G>T (p.Gly1372=) c.3783G>T (p.Gly1261=) | ClinVar COSMIC |
| 7 | g.117664751G>A | CA4451610 | CFTR | c.*236G>A (n.*236G>A) c.*3741G>A (n.*3741G>A) c.3844G>A (p.Gly1282Ser) c.*240G>A (n.*240G>A) c.*680G>A (n.*680G>A) c.4027G>A (p.Gly1343Ser) c.*688G>A (n.*688G>A) c.*2402G>A (n.*2402G>A) c.4021G>A (p.Gly1341Ser) c.*3851G>A (n.*3851G>A) c.3601G>A (p.Gly1201Ser) n.2195G>A c.891G>A (n.891G>A) c.1814G>A (n.1814G>A) c.609G>A c.1477G>A c.3937G>A (p.Gly1313Ser) c.153G>A c.4117G>A (p.Gly1373Ser) c.3784G>A (p.Gly1262Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |