UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.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.117664705_117664708delinsGATA | CA1737421757 | CFTR | c.*190_*193delinsGATA (n.*190_*193delinsGATA) c.*3695_*3698delinsGATA (n.*3695_*3698delinsGATA) c.3798_3801delinsGATA (p.Val1266=) c.*194_*197delinsGATA (n.*194_*197delinsGATA) c.*634_*637delinsGATA (n.*634_*637delinsGATA) c.3981_3984delinsGATA (p.Val1327=) c.*642_*645delinsGATA (n.*642_*645delinsGATA) c.*2356_*2359delinsGATA (n.*2356_*2359delinsGATA) c.3975_3978delinsGATA (p.Val1325=) c.*3805_*3808delinsGATA (n.*3805_*3808delinsGATA) c.3555_3558delinsGATA (p.Val1185=) n.2149_2152delinsGATA c.845_848delinsGATA (n.845_848delinsGATA) c.1768_1771delinsGATA (n.1768_1771delinsGATA) c.563_566delinsGATA c.1431_1434delinsGATA c.3891_3894delinsGATA (p.Val1297=) c.107_110delinsGATA c.4071_4074delinsGATA (p.Val1357=) c.3738_3741delinsGATA (p.Val1246=) | |
| 7 | g.117664706A= | CA1737421764 | CFTR | c.*191A= (n.*191A=) c.*3696A= (n.*3696A=) c.3799A= (p.Ile1267=) c.*195A= (n.*195A=) c.*635A= (n.*635A=) c.3982A= (p.Ile1328=) c.*643A= (n.*643A=) c.*2357A= (n.*2357A=) c.3976A= (p.Ile1326=) c.*3806A= (n.*3806A=) c.3556A= (p.Ile1186=) n.2150A= c.846A= (n.846A=) c.1769A= (n.1769A=) c.564A= c.1432A= c.3892A= (p.Ile1298=) c.108A= c.4072A= (p.Ile1358=) c.3739A= (p.Ile1247=) | |
| 7 | g.117664706A>C | CA368981860 | CFTR | c.*191A>C (n.*191A>C) c.*3696A>C (n.*3696A>C) c.3799A>C (p.Ile1267Leu) c.*195A>C (n.*195A>C) c.*635A>C (n.*635A>C) c.3982A>C (p.Ile1328Leu) c.*643A>C (n.*643A>C) c.*2357A>C (n.*2357A>C) c.3976A>C (p.Ile1326Leu) c.*3806A>C (n.*3806A>C) c.3556A>C (p.Ile1186Leu) n.2150A>C c.846A>C (n.846A>C) c.1769A>C (n.1769A>C) c.564A>C c.1432A>C c.3892A>C (p.Ile1298Leu) c.108A>C c.4072A>C (p.Ile1358Leu) c.3739A>C (p.Ile1247Leu) | |
| 7 | g.117664706A>G | CA368981874 | CFTR | c.*191A>G (n.*191A>G) c.*3696A>G (n.*3696A>G) c.3799A>G (p.Ile1267Val) c.*195A>G (n.*195A>G) c.*635A>G (n.*635A>G) c.3982A>G (p.Ile1328Val) c.*643A>G (n.*643A>G) c.*2357A>G (n.*2357A>G) c.3976A>G (p.Ile1326Val) c.*3806A>G (n.*3806A>G) c.3556A>G (p.Ile1186Val) n.2150A>G c.846A>G (n.846A>G) c.1769A>G (n.1769A>G) c.564A>G c.1432A>G c.3892A>G (p.Ile1298Val) c.108A>G c.4072A>G (p.Ile1358Val) c.3739A>G (p.Ile1247Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117664706A>T | CA368981876 | CFTR | c.*191A>T (n.*191A>T) c.*3696A>T (n.*3696A>T) c.3799A>T (p.Ile1267Leu) c.*195A>T (n.*195A>T) c.*635A>T (n.*635A>T) c.3982A>T (p.Ile1328Leu) c.*643A>T (n.*643A>T) c.*2357A>T (n.*2357A>T) c.3976A>T (p.Ile1326Leu) c.*3806A>T (n.*3806A>T) c.3556A>T (p.Ile1186Leu) n.2150A>T c.846A>T (n.846A>T) c.1769A>T (n.1769A>T) c.564A>T c.1432A>T c.3892A>T (p.Ile1298Leu) c.108A>T c.4072A>T (p.Ile1358Leu) c.3739A>T (p.Ile1247Leu) | |
| 7 | g.117664706_117664708delinsTT | CA327370 | CFTR | c.*191_*193delinsTT (n.*191_*193delinsTT) c.*3696_*3698delinsTT (n.*3696_*3698delinsTT) c.3799_3801delinsTT (p.Ile1267LeufsTer19) c.*195_*197delinsTT (n.*195_*197delinsTT) c.*635_*637delinsTT (n.*635_*637delinsTT) c.3982_3984delinsTT (p.Ile1328LeufsTer19) c.*643_*645delinsTT (n.*643_*645delinsTT) c.*2357_*2359delinsTT (n.*2357_*2359delinsTT) c.3976_3978delinsTT (p.Ile1326LeufsTer19) c.*3806_*3808delinsTT (n.*3806_*3808delinsTT) c.3556_3558delinsTT (p.Ile1186LeufsTer19) n.2150_2152delinsTT c.846_848delinsTT (n.846_848delinsTT) c.1769_1771delinsTT (n.1769_1771delinsTT) c.564_566delinsTT c.1432_1434delinsTT c.3892_3894delinsTT (p.Ile1298LeufsTer19) c.108_110delinsTT c.4072_4074delinsTT (p.Ile1358LeufsTer19) c.3739_3741delinsTT (p.Ile1247LeufsTer19) | ClinVar dbSNP |
| 7 | g.117664707T>A | CA368981881 | CFTR | c.*192T>A (n.*192T>A) c.*3697T>A (n.*3697T>A) c.3800T>A (p.Ile1267Lys) c.*196T>A (n.*196T>A) c.*636T>A (n.*636T>A) c.3983T>A (p.Ile1328Lys) c.*644T>A (n.*644T>A) c.*2358T>A (n.*2358T>A) c.3977T>A (p.Ile1326Lys) c.*3807T>A (n.*3807T>A) c.3557T>A (p.Ile1186Lys) n.2151T>A c.847T>A (n.847T>A) c.1770T>A (n.1770T>A) c.565T>A c.1433T>A c.3893T>A (p.Ile1298Lys) c.109T>A c.4073T>A (p.Ile1358Lys) c.3740T>A (p.Ile1247Lys) | |
| 7 | g.117664707T>C | CA4451605 | CFTR | c.*192T>C (n.*192T>C) c.*3697T>C (n.*3697T>C) c.3800T>C (p.Ile1267Thr) c.*196T>C (n.*196T>C) c.*636T>C (n.*636T>C) c.3983T>C (p.Ile1328Thr) c.*644T>C (n.*644T>C) c.*2358T>C (n.*2358T>C) c.3977T>C (p.Ile1326Thr) c.*3807T>C (n.*3807T>C) c.3557T>C (p.Ile1186Thr) n.2151T>C c.847T>C (n.847T>C) c.1770T>C (n.1770T>C) c.565T>C c.1433T>C c.3893T>C (p.Ile1298Thr) c.109T>C c.4073T>C (p.Ile1358Thr) c.3740T>C (p.Ile1247Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117664707T>G | CA368981898 | CFTR | c.*192T>G (n.*192T>G) c.*3697T>G (n.*3697T>G) c.3800T>G (p.Ile1267Arg) c.*196T>G (n.*196T>G) c.*636T>G (n.*636T>G) c.3983T>G (p.Ile1328Arg) c.*644T>G (n.*644T>G) c.*2358T>G (n.*2358T>G) c.3977T>G (p.Ile1326Arg) c.*3807T>G (n.*3807T>G) c.3557T>G (p.Ile1186Arg) n.2151T>G c.847T>G (n.847T>G) c.1770T>G (n.1770T>G) c.565T>G c.1433T>G c.3893T>G (p.Ile1298Arg) c.109T>G c.4073T>G (p.Ile1358Arg) c.3740T>G (p.Ile1247Arg) | |
| 7 | g.117664707T= | CA1737421770 | CFTR | c.*192T= (n.*192T=) c.*3697T= (n.*3697T=) c.3800T= (p.Ile1267=) c.*196T= (n.*196T=) c.*636T= (n.*636T=) c.3983T= (p.Ile1328=) c.*644T= (n.*644T=) c.*2358T= (n.*2358T=) c.3977T= (p.Ile1326=) c.*3807T= (n.*3807T=) c.3557T= (p.Ile1186=) n.2151T= c.847T= (n.847T=) c.1770T= (n.1770T=) c.565T= c.1433T= c.3893T= (p.Ile1298=) c.109T= c.4073T= (p.Ile1358=) c.3740T= (p.Ile1247=) | |
| 7 | g.117664708A= | CA1737421773 | CFTR | c.*193A= (n.*193A=) c.*3698A= (n.*3698A=) c.3801A= (p.Ile1267=) c.*197A= (n.*197A=) c.*637A= (n.*637A=) c.3984A= (p.Ile1328=) c.*645A= (n.*645A=) c.*2359A= (n.*2359A=) c.3978A= (p.Ile1326=) c.*3808A= (n.*3808A=) c.3558A= (p.Ile1186=) n.2152A= c.848A= (n.848A=) c.1771A= (n.1771A=) c.566A= c.1434A= c.3894A= (p.Ile1298=) c.110A= c.4074A= (p.Ile1358=) c.3741A= (p.Ile1247=) | |
| 7 | g.117664708A>C | CA457230268 | CFTR | c.*193A>C (n.*193A>C) c.*3698A>C (n.*3698A>C) c.3801A>C (p.Ile1267=) c.*197A>C (n.*197A>C) c.*637A>C (n.*637A>C) c.3984A>C (p.Ile1328=) c.*645A>C (n.*645A>C) c.*2359A>C (n.*2359A>C) c.3978A>C (p.Ile1326=) c.*3808A>C (n.*3808A>C) c.3558A>C (p.Ile1186=) n.2152A>C c.848A>C (n.848A>C) c.1771A>C (n.1771A>C) c.566A>C c.1434A>C c.3894A>C (p.Ile1298=) c.110A>C c.4074A>C (p.Ile1358=) c.3741A>C (p.Ile1247=) | |
| 7 | g.117664708A>G | CA4451606 | CFTR | c.*193A>G (n.*193A>G) c.*3698A>G (n.*3698A>G) c.3801A>G (p.Ile1267Met) c.*197A>G (n.*197A>G) c.*637A>G (n.*637A>G) c.3984A>G (p.Ile1328Met) c.*645A>G (n.*645A>G) c.*2359A>G (n.*2359A>G) c.3978A>G (p.Ile1326Met) c.*3808A>G (n.*3808A>G) c.3558A>G (p.Ile1186Met) n.2152A>G c.848A>G (n.848A>G) c.1771A>G (n.1771A>G) c.566A>G c.1434A>G c.3894A>G (p.Ile1298Met) c.110A>G c.4074A>G (p.Ile1358Met) c.3741A>G (p.Ile1247Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117664708A>T | CA457230269 | CFTR | c.*193A>T (n.*193A>T) c.*3698A>T (n.*3698A>T) c.3801A>T (p.Ile1267=) c.*197A>T (n.*197A>T) c.*637A>T (n.*637A>T) c.3984A>T (p.Ile1328=) c.*645A>T (n.*645A>T) c.*2359A>T (n.*2359A>T) c.3978A>T (p.Ile1326=) c.*3808A>T (n.*3808A>T) c.3558A>T (p.Ile1186=) n.2152A>T c.848A>T (n.848A>T) c.1771A>T (n.1771A>T) c.566A>T c.1434A>T c.3894A>T (p.Ile1298=) c.110A>T c.4074A>T (p.Ile1358=) c.3741A>T (p.Ile1247=) | |
| 7 | g.117664709G>A | CA368981910 | CFTR | c.*194G>A (n.*194G>A) c.*3699G>A (n.*3699G>A) c.3802G>A (p.Glu1268Lys) c.*198G>A (n.*198G>A) c.*638G>A (n.*638G>A) c.3985G>A (p.Glu1329Lys) c.*646G>A (n.*646G>A) c.*2360G>A (n.*2360G>A) c.3979G>A (p.Glu1327Lys) c.*3809G>A (n.*3809G>A) c.3559G>A (p.Glu1187Lys) n.2153G>A c.849G>A (n.849G>A) c.1772G>A (n.1772G>A) c.567G>A c.1435G>A c.3895G>A (p.Glu1299Lys) c.111G>A c.4075G>A (p.Glu1359Lys) c.3742G>A (p.Glu1248Lys) | |
| 7 | g.117664709G>C | CA327371 | CFTR | c.*194G>C (n.*194G>C) c.*3699G>C (n.*3699G>C) c.3802G>C (p.Glu1268Gln) c.*198G>C (n.*198G>C) c.*638G>C (n.*638G>C) c.3985G>C (p.Glu1329Gln) c.*646G>C (n.*646G>C) c.*2360G>C (n.*2360G>C) c.3979G>C (p.Glu1327Gln) c.*3809G>C (n.*3809G>C) c.3559G>C (p.Glu1187Gln) n.2153G>C c.849G>C (n.849G>C) c.1772G>C (n.1772G>C) c.567G>C c.1435G>C c.3895G>C (p.Glu1299Gln) c.111G>C c.4075G>C (p.Glu1359Gln) c.3742G>C (p.Glu1248Gln) | ClinVar dbSNP |
| 7 | g.117664709G= | CA1737421777 | CFTR | c.*194G= (n.*194G=) c.*3699G= (n.*3699G=) c.3802G= (p.Glu1268=) c.*198G= (n.*198G=) c.*638G= (n.*638G=) c.3985G= (p.Glu1329=) c.*646G= (n.*646G=) c.*2360G= (n.*2360G=) c.3979G= (p.Glu1327=) c.*3809G= (n.*3809G=) c.3559G= (p.Glu1187=) n.2153G= c.849G= (n.849G=) c.1772G= (n.1772G=) c.567G= c.1435G= c.3895G= (p.Glu1299=) c.111G= c.4075G= (p.Glu1359=) c.3742G= (p.Glu1248=) | |
| 7 | g.117664709G>T | CA368981917 | CFTR | c.*194G>T (n.*194G>T) c.*3699G>T (n.*3699G>T) c.3802G>T (p.Glu1268Ter) c.*198G>T (n.*198G>T) c.*638G>T (n.*638G>T) c.3985G>T (p.Glu1329Ter) c.*646G>T (n.*646G>T) c.*2360G>T (n.*2360G>T) c.3979G>T (p.Glu1327Ter) c.*3809G>T (n.*3809G>T) c.3559G>T (p.Glu1187Ter) n.2153G>T c.849G>T (n.849G>T) c.1772G>T (n.1772G>T) c.567G>T c.1435G>T c.3895G>T (p.Glu1299Ter) c.111G>T c.4075G>T (p.Glu1359Ter) c.3742G>T (p.Glu1248Ter) | COSMIC |
| 7 | g.117664710A>C | CA368981921 | CFTR | c.*195A>C (n.*195A>C) c.*3700A>C (n.*3700A>C) c.3803A>C (p.Glu1268Ala) c.*199A>C (n.*199A>C) c.*639A>C (n.*639A>C) c.3986A>C (p.Glu1329Ala) c.*647A>C (n.*647A>C) c.*2361A>C (n.*2361A>C) c.3980A>C (p.Glu1327Ala) c.*3810A>C (n.*3810A>C) c.3560A>C (p.Glu1187Ala) n.2154A>C c.850A>C (n.850A>C) c.1773A>C (n.1773A>C) c.568A>C c.1436A>C c.3896A>C (p.Glu1299Ala) c.112A>C c.4076A>C (p.Glu1359Ala) c.3743A>C (p.Glu1248Ala) | |
| 7 | g.117664710A>G | CA368981925 | CFTR | c.*195A>G (n.*195A>G) c.*3700A>G (n.*3700A>G) c.3803A>G (p.Glu1268Gly) c.*199A>G (n.*199A>G) c.*639A>G (n.*639A>G) c.3986A>G (p.Glu1329Gly) c.*647A>G (n.*647A>G) c.*2361A>G (n.*2361A>G) c.3980A>G (p.Glu1327Gly) c.*3810A>G (n.*3810A>G) c.3560A>G (p.Glu1187Gly) n.2154A>G c.850A>G (n.850A>G) c.1773A>G (n.1773A>G) c.568A>G c.1436A>G c.3896A>G (p.Glu1299Gly) c.112A>G c.4076A>G (p.Glu1359Gly) c.3743A>G (p.Glu1248Gly) | |
| 7 | g.117664710A>T | CA368981929 | CFTR | c.*195A>T (n.*195A>T) c.*3700A>T (n.*3700A>T) c.3803A>T (p.Glu1268Val) c.*199A>T (n.*199A>T) c.*639A>T (n.*639A>T) c.3986A>T (p.Glu1329Val) c.*647A>T (n.*647A>T) c.*2361A>T (n.*2361A>T) c.3980A>T (p.Glu1327Val) c.*3810A>T (n.*3810A>T) c.3560A>T (p.Glu1187Val) n.2154A>T c.850A>T (n.850A>T) c.1773A>T (n.1773A>T) c.568A>T c.1436A>T c.3896A>T (p.Glu1299Val) c.112A>T c.4076A>T (p.Glu1359Val) c.3743A>T (p.Glu1248Val) | |
| 7 | g.117664710_117664712delinsAAC | CA1737421781 | CFTR | c.*195_*197delinsAAC (n.*195_*197delinsAAC) c.*3700_*3702delinsAAC (n.*3700_*3702delinsAAC) c.3803_3805delinsAAC (p.Glu1268=) c.*199_*201delinsAAC (n.*199_*201delinsAAC) c.*639_*641delinsAAC (n.*639_*641delinsAAC) c.3986_3988delinsAAC (p.Glu1329=) c.*647_*649delinsAAC (n.*647_*649delinsAAC) c.*2361_*2363delinsAAC (n.*2361_*2363delinsAAC) c.3980_3982delinsAAC (p.Glu1327=) c.*3810_*3812delinsAAC (n.*3810_*3812delinsAAC) c.3560_3562delinsAAC (p.Glu1187=) n.2154_2156delinsAAC c.850_852delinsAAC (n.850_852delinsAAC) c.1773_1775delinsAAC (n.1773_1775delinsAAC) c.568_570delinsAAC c.1436_1438delinsAAC c.3896_3898delinsAAC (p.Glu1299=) c.112_114delinsAAC c.4076_4078delinsAAC (p.Glu1359=) c.3743_3745delinsAAC (p.Glu1248=) | |
| 7 | g.117664711A>C | CA368981934 | CFTR | c.*196A>C (n.*196A>C) c.*3701A>C (n.*3701A>C) c.3804A>C (p.Glu1268Asp) c.*200A>C (n.*200A>C) c.*640A>C (n.*640A>C) c.3987A>C (p.Glu1329Asp) c.*648A>C (n.*648A>C) c.*2362A>C (n.*2362A>C) c.3981A>C (p.Glu1327Asp) c.*3811A>C (n.*3811A>C) c.3561A>C (p.Glu1187Asp) n.2155A>C c.851A>C (n.851A>C) c.1774A>C (n.1774A>C) c.569A>C c.1437A>C c.3897A>C (p.Glu1299Asp) c.113A>C c.4077A>C (p.Glu1359Asp) c.3744A>C (p.Glu1248Asp) | |
| 7 | g.117664711A>G | CA457230270 | CFTR | c.*196A>G (n.*196A>G) c.*3701A>G (n.*3701A>G) c.3804A>G (p.Glu1268=) c.*200A>G (n.*200A>G) c.*640A>G (n.*640A>G) c.3987A>G (p.Glu1329=) c.*648A>G (n.*648A>G) c.*2362A>G (n.*2362A>G) c.3981A>G (p.Glu1327=) c.*3811A>G (n.*3811A>G) c.3561A>G (p.Glu1187=) n.2155A>G c.851A>G (n.851A>G) c.1774A>G (n.1774A>G) c.569A>G c.1437A>G c.3897A>G (p.Glu1299=) c.113A>G c.4077A>G (p.Glu1359=) c.3744A>G (p.Glu1248=) | |
| 7 | g.117664711A>T | CA368981941 | CFTR | c.*196A>T (n.*196A>T) c.*3701A>T (n.*3701A>T) c.3804A>T (p.Glu1268Asp) c.*200A>T (n.*200A>T) c.*640A>T (n.*640A>T) c.3987A>T (p.Glu1329Asp) c.*648A>T (n.*648A>T) c.*2362A>T (n.*2362A>T) c.3981A>T (p.Glu1327Asp) c.*3811A>T (n.*3811A>T) c.3561A>T (p.Glu1187Asp) n.2155A>T c.851A>T (n.851A>T) c.1774A>T (n.1774A>T) c.569A>T c.1437A>T c.3897A>T (p.Glu1299Asp) c.113A>T c.4077A>T (p.Glu1359Asp) c.3744A>T (p.Glu1248Asp) | |
| 7 | g.117664712_117664713del | CA16041140 | CFTR | c.*197_*198del (n.*197_*198del) c.*3702_*3703del (n.*3702_*3703del) c.3805_3806del (p.Gln1269ValfsTer6) c.*201_*202del (n.*201_*202del) c.*641_*642del (n.*641_*642del) c.3988_3989del (p.Gln1330ValfsTer6) c.*649_*650del (n.*649_*650del) c.*2363_*2364del (n.*2363_*2364del) c.3982_3983del (p.Gln1328ValfsTer6) c.*3812_*3813del (n.*3812_*3813del) c.3562_3563del (p.Gln1188ValfsTer6) n.2156_2157del c.852_853del (n.852_853del) c.1775_1776del (n.1775_1776del) c.570_571del c.1438_1439del c.3898_3899del (p.Gln1300ValfsTer6) c.114_115del c.4078_4079del (p.Gln1360ValfsTer6) c.3745_3746del (p.Gln1249ValfsTer6) | ClinVar dbSNP |
| 7 | g.117664712C>A | CA368981985 | CFTR | c.*197C>A (n.*197C>A) c.*3702C>A (n.*3702C>A) c.3805C>A (p.Gln1269Lys) c.*201C>A (n.*201C>A) c.*641C>A (n.*641C>A) c.3988C>A (p.Gln1330Lys) c.*649C>A (n.*649C>A) c.*2363C>A (n.*2363C>A) c.3982C>A (p.Gln1328Lys) c.*3812C>A (n.*3812C>A) c.3562C>A (p.Gln1188Lys) n.2156C>A c.852C>A (n.852C>A) c.1775C>A (n.1775C>A) c.570C>A c.1438C>A c.3898C>A (p.Gln1300Lys) c.114C>A c.4078C>A (p.Gln1360Lys) c.3745C>A (p.Gln1249Lys) | |
| 7 | g.117664712C= | CA1737421791 | CFTR | c.*197C= (n.*197C=) c.*3702C= (n.*3702C=) c.3805C= (p.Gln1269=) c.*201C= (n.*201C=) c.*641C= (n.*641C=) c.3988C= (p.Gln1330=) c.*649C= (n.*649C=) c.*2363C= (n.*2363C=) c.3982C= (p.Gln1328=) c.*3812C= (n.*3812C=) c.3562C= (p.Gln1188=) n.2156C= c.852C= (n.852C=) c.1775C= (n.1775C=) c.570C= c.1438C= c.3898C= (p.Gln1300=) c.114C= c.4078C= (p.Gln1360=) c.3745C= (p.Gln1249=) | |
| 7 | g.117664712C>G | CA164960079 | CFTR | c.*197C>G (n.*197C>G) c.*3702C>G (n.*3702C>G) c.3805C>G (p.Gln1269Glu) c.*201C>G (n.*201C>G) c.*641C>G (n.*641C>G) c.3988C>G (p.Gln1330Glu) c.*649C>G (n.*649C>G) c.*2363C>G (n.*2363C>G) c.3982C>G (p.Gln1328Glu) c.*3812C>G (n.*3812C>G) c.3562C>G (p.Gln1188Glu) n.2156C>G c.852C>G (n.852C>G) c.1775C>G (n.1775C>G) c.570C>G c.1438C>G c.3898C>G (p.Gln1300Glu) c.114C>G c.4078C>G (p.Gln1360Glu) c.3745C>G (p.Gln1249Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117664712C>T | CA368981990 | CFTR | c.*197C>T (n.*197C>T) c.*3702C>T (n.*3702C>T) c.3805C>T (p.Gln1269Ter) c.*201C>T (n.*201C>T) c.*641C>T (n.*641C>T) c.3988C>T (p.Gln1330Ter) c.*649C>T (n.*649C>T) c.*2363C>T (n.*2363C>T) c.3982C>T (p.Gln1328Ter) c.*3812C>T (n.*3812C>T) c.3562C>T (p.Gln1188Ter) n.2156C>T c.852C>T (n.852C>T) c.1775C>T (n.1775C>T) c.570C>T c.1438C>T c.3898C>T (p.Gln1300Ter) c.114C>T c.4078C>T (p.Gln1360Ter) c.3745C>T (p.Gln1249Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117664713A= | CA1737421796 | CFTR | c.*198A= (n.*198A=) c.*3703A= (n.*3703A=) c.3806A= (p.Gln1269=) c.*202A= (n.*202A=) c.*642A= (n.*642A=) c.3989A= (p.Gln1330=) c.*650A= (n.*650A=) c.*2364A= (n.*2364A=) c.3983A= (p.Gln1328=) c.*3813A= (n.*3813A=) c.3563A= (p.Gln1188=) n.2157A= c.853A= (n.853A=) c.1776A= (n.1776A=) c.571A= c.1439A= c.3899A= (p.Gln1300=) c.115A= c.4079A= (p.Gln1360=) c.3746A= (p.Gln1249=) | |
| 7 | g.117664713A>C | CA368981994 | CFTR | c.*198A>C (n.*198A>C) c.*3703A>C (n.*3703A>C) c.3806A>C (p.Gln1269Pro) c.*202A>C (n.*202A>C) c.*642A>C (n.*642A>C) c.3989A>C (p.Gln1330Pro) c.*650A>C (n.*650A>C) c.*2364A>C (n.*2364A>C) c.3983A>C (p.Gln1328Pro) c.*3813A>C (n.*3813A>C) c.3563A>C (p.Gln1188Pro) n.2157A>C c.853A>C (n.853A>C) c.1776A>C (n.1776A>C) c.571A>C c.1439A>C c.3899A>C (p.Gln1300Pro) c.115A>C c.4079A>C (p.Gln1360Pro) c.3746A>C (p.Gln1249Pro) | |
| 7 | g.117664713A>G | CA368982002 | CFTR | c.*198A>G (n.*198A>G) c.*3703A>G (n.*3703A>G) c.3806A>G (p.Gln1269Arg) c.*202A>G (n.*202A>G) c.*642A>G (n.*642A>G) c.3989A>G (p.Gln1330Arg) c.*650A>G (n.*650A>G) c.*2364A>G (n.*2364A>G) c.3983A>G (p.Gln1328Arg) c.*3813A>G (n.*3813A>G) c.3563A>G (p.Gln1188Arg) n.2157A>G c.853A>G (n.853A>G) c.1776A>G (n.1776A>G) c.571A>G c.1439A>G c.3899A>G (p.Gln1300Arg) c.115A>G c.4079A>G (p.Gln1360Arg) c.3746A>G (p.Gln1249Arg) | ClinVar dbSNP |
| 7 | g.117664713A>T | CA368981998 | CFTR | c.*198A>T (n.*198A>T) c.*3703A>T (n.*3703A>T) c.3806A>T (p.Gln1269Leu) c.*202A>T (n.*202A>T) c.*642A>T (n.*642A>T) c.3989A>T (p.Gln1330Leu) c.*650A>T (n.*650A>T) c.*2364A>T (n.*2364A>T) c.3983A>T (p.Gln1328Leu) c.*3813A>T (n.*3813A>T) c.3563A>T (p.Gln1188Leu) n.2157A>T c.853A>T (n.853A>T) c.1776A>T (n.1776A>T) c.571A>T c.1439A>T c.3899A>T (p.Gln1300Leu) c.115A>T c.4079A>T (p.Gln1360Leu) c.3746A>T (p.Gln1249Leu) | |
| 7 | g.117664714G>A | CA457230271 | CFTR | c.*199G>A (n.*199G>A) c.*3704G>A (n.*3704G>A) c.3807G>A (p.Gln1269=) c.*203G>A (n.*203G>A) c.*643G>A (n.*643G>A) c.3990G>A (p.Gln1330=) c.*651G>A (n.*651G>A) c.*2365G>A (n.*2365G>A) c.3984G>A (p.Gln1328=) c.*3814G>A (n.*3814G>A) c.3564G>A (p.Gln1188=) n.2158G>A c.854G>A (n.854G>A) c.1777G>A (n.1777G>A) c.572G>A c.1440G>A c.3900G>A (p.Gln1300=) c.116G>A c.4080G>A (p.Gln1360=) c.3747G>A (p.Gln1249=) | |
| 7 | g.117664714G>C | CA368982005 | CFTR | c.*199G>C (n.*199G>C) c.*3704G>C (n.*3704G>C) c.3807G>C (p.Gln1269His) c.*203G>C (n.*203G>C) c.*643G>C (n.*643G>C) c.3990G>C (p.Gln1330His) c.*651G>C (n.*651G>C) c.*2365G>C (n.*2365G>C) c.3984G>C (p.Gln1328His) c.*3814G>C (n.*3814G>C) c.3564G>C (p.Gln1188His) n.2158G>C c.854G>C (n.854G>C) c.1777G>C (n.1777G>C) c.572G>C c.1440G>C c.3900G>C (p.Gln1300His) c.116G>C c.4080G>C (p.Gln1360His) c.3747G>C (p.Gln1249His) | |
| 7 | g.117664714G>T | CA368982008 | CFTR | c.*199G>T (n.*199G>T) c.*3704G>T (n.*3704G>T) c.3807G>T (p.Gln1269His) c.*203G>T (n.*203G>T) c.*643G>T (n.*643G>T) c.3990G>T (p.Gln1330His) c.*651G>T (n.*651G>T) c.*2365G>T (n.*2365G>T) c.3984G>T (p.Gln1328His) c.*3814G>T (n.*3814G>T) c.3564G>T (p.Gln1188His) n.2158G>T c.854G>T (n.854G>T) c.1777G>T (n.1777G>T) c.572G>T c.1440G>T c.3900G>T (p.Gln1300His) c.116G>T c.4080G>T (p.Gln1360His) c.3747G>T (p.Gln1249His) | |
| 7 | g.117664715T>A | CA368982012 | CFTR | c.*200T>A (n.*200T>A) c.*3705T>A (n.*3705T>A) c.3808T>A (p.Phe1270Ile) c.*204T>A (n.*204T>A) c.*644T>A (n.*644T>A) c.3991T>A (p.Phe1331Ile) c.*652T>A (n.*652T>A) c.*2366T>A (n.*2366T>A) c.3985T>A (p.Phe1329Ile) c.*3815T>A (n.*3815T>A) c.3565T>A (p.Phe1189Ile) n.2159T>A c.855T>A (n.855T>A) c.1778T>A (n.1778T>A) c.573T>A c.1441T>A c.3901T>A (p.Phe1301Ile) c.117T>A c.4081T>A (p.Phe1361Ile) c.3748T>A (p.Phe1250Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117664715T>C | CA368982017 | CFTR | c.*200T>C (n.*200T>C) c.*3705T>C (n.*3705T>C) c.3808T>C (p.Phe1270Leu) c.*204T>C (n.*204T>C) c.*644T>C (n.*644T>C) c.3991T>C (p.Phe1331Leu) c.*652T>C (n.*652T>C) c.*2366T>C (n.*2366T>C) c.3985T>C (p.Phe1329Leu) c.*3815T>C (n.*3815T>C) c.3565T>C (p.Phe1189Leu) n.2159T>C c.855T>C (n.855T>C) c.1778T>C (n.1778T>C) c.573T>C c.1441T>C c.3901T>C (p.Phe1301Leu) c.117T>C c.4081T>C (p.Phe1361Leu) c.3748T>C (p.Phe1250Leu) | gnomAD v4 |
| 7 | g.117664715T>G | CA368982021 | CFTR | c.*200T>G (n.*200T>G) c.*3705T>G (n.*3705T>G) c.3808T>G (p.Phe1270Val) c.*204T>G (n.*204T>G) c.*644T>G (n.*644T>G) c.3991T>G (p.Phe1331Val) c.*652T>G (n.*652T>G) c.*2366T>G (n.*2366T>G) c.3985T>G (p.Phe1329Val) c.*3815T>G (n.*3815T>G) c.3565T>G (p.Phe1189Val) n.2159T>G c.855T>G (n.855T>G) c.1778T>G (n.1778T>G) c.573T>G c.1441T>G c.3901T>G (p.Phe1301Val) c.117T>G c.4081T>G (p.Phe1361Val) c.3748T>G (p.Phe1250Val) | |
| 7 | g.117664715T= | CA1737421802 | CFTR | c.*200T= (n.*200T=) c.*3705T= (n.*3705T=) c.3808T= (p.Phe1270=) c.*204T= (n.*204T=) c.*644T= (n.*644T=) c.3991T= (p.Phe1331=) c.*652T= (n.*652T=) c.*2366T= (n.*2366T=) c.3985T= (p.Phe1329=) c.*3815T= (n.*3815T=) c.3565T= (p.Phe1189=) n.2159T= c.855T= (n.855T=) c.1778T= (n.1778T=) c.573T= c.1441T= c.3901T= (p.Phe1301=) c.117T= c.4081T= (p.Phe1361=) c.3748T= (p.Phe1250=) | |
| 7 | g.117664716T>A | CA368982025 | CFTR | c.*201T>A (n.*201T>A) c.*3706T>A (n.*3706T>A) c.3809T>A (p.Phe1270Tyr) c.*205T>A (n.*205T>A) c.*645T>A (n.*645T>A) c.3992T>A (p.Phe1331Tyr) c.*653T>A (n.*653T>A) c.*2367T>A (n.*2367T>A) c.3986T>A (p.Phe1329Tyr) c.*3816T>A (n.*3816T>A) c.3566T>A (p.Phe1189Tyr) n.2160T>A c.856T>A (n.856T>A) c.1779T>A (n.1779T>A) c.574T>A c.1442T>A c.3902T>A (p.Phe1301Tyr) c.118T>A c.4082T>A (p.Phe1361Tyr) c.3749T>A (p.Phe1250Tyr) | |
| 7 | g.117664716T>C | CA368982029 | CFTR | c.*201T>C (n.*201T>C) c.*3706T>C (n.*3706T>C) c.3809T>C (p.Phe1270Ser) c.*205T>C (n.*205T>C) c.*645T>C (n.*645T>C) c.3992T>C (p.Phe1331Ser) c.*653T>C (n.*653T>C) c.*2367T>C (n.*2367T>C) c.3986T>C (p.Phe1329Ser) c.*3816T>C (n.*3816T>C) c.3566T>C (p.Phe1189Ser) n.2160T>C c.856T>C (n.856T>C) c.1779T>C (n.1779T>C) c.574T>C c.1442T>C c.3902T>C (p.Phe1301Ser) c.118T>C c.4082T>C (p.Phe1361Ser) c.3749T>C (p.Phe1250Ser) | |
| 7 | g.117664716T>G | CA368982030 | CFTR | c.*201T>G (n.*201T>G) c.*3706T>G (n.*3706T>G) c.3809T>G (p.Phe1270Cys) c.*205T>G (n.*205T>G) c.*645T>G (n.*645T>G) c.3992T>G (p.Phe1331Cys) c.*653T>G (n.*653T>G) c.*2367T>G (n.*2367T>G) c.3986T>G (p.Phe1329Cys) c.*3816T>G (n.*3816T>G) c.3566T>G (p.Phe1189Cys) n.2160T>G c.856T>G (n.856T>G) c.1779T>G (n.1779T>G) c.574T>G c.1442T>G c.3902T>G (p.Phe1301Cys) c.118T>G c.4082T>G (p.Phe1361Cys) c.3749T>G (p.Phe1250Cys) | |
| 7 | g.117664717T>A | CA4451607 | CFTR | c.*202T>A (n.*202T>A) c.*3707T>A (n.*3707T>A) c.3810T>A (p.Phe1270Leu) c.*206T>A (n.*206T>A) c.*646T>A (n.*646T>A) c.3993T>A (p.Phe1331Leu) c.*654T>A (n.*654T>A) c.*2368T>A (n.*2368T>A) c.3987T>A (p.Phe1329Leu) c.*3817T>A (n.*3817T>A) c.3567T>A (p.Phe1189Leu) n.2161T>A c.857T>A (n.857T>A) c.1780T>A (n.1780T>A) c.575T>A c.1443T>A c.3903T>A (p.Phe1301Leu) c.119T>A c.4083T>A (p.Phe1361Leu) c.3750T>A (p.Phe1250Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |