| 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.117664758_117664765delinsTCCTAAGC | CA1737421913 | CFTR | c.*243_*250delinsTCCTAAGC (n.*243_*250delinsTCCTAAGC) c.*3748_*3755delinsTCCTAAGC (n.*3748_*3755delinsTCCTAAGC) c.3851_3858delinsTCCTAAGC (p.Val1284=) c.*247_*254delinsTCCTAAGC (n.*247_*254delinsTCCTAAGC) c.*687_*694delinsTCCTAAGC (n.*687_*694delinsTCCTAAGC) c.4034_4041delinsTCCTAAGC (p.Val1345=) c.*695_*702delinsTCCTAAGC (n.*695_*702delinsTCCTAAGC) c.*2409_*2416delinsTCCTAAGC (n.*2409_*2416delinsTCCTAAGC) c.4028_4035delinsTCCTAAGC (p.Val1343=) c.*3858_*3865delinsTCCTAAGC (n.*3858_*3865delinsTCCTAAGC) c.3608_3615delinsTCCTAAGC (p.Val1203=) n.2202_2209delinsTCCTAAGC c.898_905delinsTCCTAAGC (n.898_905delinsTCCTAAGC) c.1821_1828delinsTCCTAAGC (n.1821_1828delinsTCCTAAGC) c.616_623delinsTCCTAAGC c.1484_1491delinsTCCTAAGC c.3944_3951delinsTCCTAAGC (p.Val1315=) c.160_167delinsTCCTAAGC c.4124_4131delinsTCCTAAGC (p.Val1375=) c.3791_3798delinsTCCTAAGC (p.Val1264=) | |
| 7 | g.117664760dup | CA2580076365 | CFTR | c.*245dup (n.*245dup) c.*3750dup (n.*3750dup) c.3853dup (p.Leu1285ProfsTer13) c.*249dup (n.*249dup) c.*689dup (n.*689dup) c.4036dup (p.Leu1346ProfsTer13) c.*697dup (n.*697dup) c.*2411dup (n.*2411dup) c.4030dup (p.Leu1344ProfsTer13) c.*3860dup (n.*3860dup) c.3610dup (p.Leu1204ProfsTer13) n.2204dup c.900dup (n.900dup) c.1823dup (n.1823dup) c.618dup c.1486dup c.3946dup (p.Leu1316ProfsTer13) c.162dup c.4126dup (p.Leu1376ProfsTer13) c.3793dup (p.Leu1265ProfsTer13) | ClinVar |
| 7 | g.117664759_117664762dup | CA658821704 | CFTR | c.*244_*247dup (n.*244_*247dup) c.*3749_*3752dup (n.*3749_*3752dup) c.3852_3855dup (p.Ser1286ProfsTer13) c.*248_*251dup (n.*248_*251dup) c.*688_*691dup (n.*688_*691dup) c.4035_4038dup (p.Ser1347ProfsTer13) c.*696_*699dup (n.*696_*699dup) c.*2410_*2413dup (n.*2410_*2413dup) c.4029_4032dup (p.Ser1345ProfsTer13) c.*3859_*3862dup (n.*3859_*3862dup) c.3609_3612dup (p.Ser1205ProfsTer13) n.2203_2206dup c.899_902dup (n.899_902dup) c.1822_1825dup (n.1822_1825dup) c.617_620dup c.1485_1488dup c.3945_3948dup (p.Ser1317ProfsTer13) c.161_164dup c.4125_4128dup (p.Ser1377ProfsTer13) c.3792_3795dup (p.Ser1266ProfsTer13) | ClinVar dbSNP |
| 7 | g.117664760_117664766del | CA327385 | CFTR | c.*245_*251del (n.*245_*251del) c.*3750_*3756del (n.*3750_*3756del) c.3853_3859del (p.Leu1285MetfsTer6) c.*249_*255del (n.*249_*255del) c.*689_*695del (n.*689_*695del) c.4036_4042del (p.Leu1346MetfsTer6) c.*697_*703del (n.*697_*703del) c.*2411_*2417del (n.*2411_*2417del) c.4030_4036del (p.Leu1344MetfsTer6) c.*3860_*3866del (n.*3860_*3866del) c.3610_3616del (p.Leu1204MetfsTer6) n.2204_2210del c.900_906del (n.900_906del) c.1823_1829del (n.1823_1829del) c.618_624del c.1486_1492del c.3946_3952del (p.Leu1316MetfsTer6) c.162_168del c.4126_4132del (p.Leu1376MetfsTer6) c.3793_3799del (p.Leu1265MetfsTer6) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117664760C>A | CA368982418 | CFTR | c.*245C>A (n.*245C>A) c.*3750C>A (n.*3750C>A) c.3853C>A (p.Leu1285Ile) c.*249C>A (n.*249C>A) c.*689C>A (n.*689C>A) c.4036C>A (p.Leu1346Ile) c.*697C>A (n.*697C>A) c.*2411C>A (n.*2411C>A) c.4030C>A (p.Leu1344Ile) c.*3860C>A (n.*3860C>A) c.3610C>A (p.Leu1204Ile) n.2204C>A c.900C>A (n.900C>A) c.1823C>A (n.1823C>A) c.618C>A c.1486C>A c.3946C>A (p.Leu1316Ile) c.162C>A c.4126C>A (p.Leu1376Ile) c.3793C>A (p.Leu1265Ile) | |
| 7 | g.117664760C= | CA1737421923 | CFTR | c.*245C= (n.*245C=) c.*3750C= (n.*3750C=) c.3853C= (p.Leu1285=) c.*249C= (n.*249C=) c.*689C= (n.*689C=) c.4036C= (p.Leu1346=) c.*697C= (n.*697C=) c.*2411C= (n.*2411C=) c.4030C= (p.Leu1344=) c.*3860C= (n.*3860C=) c.3610C= (p.Leu1204=) n.2204C= c.900C= (n.900C=) c.1823C= (n.1823C=) c.618C= c.1486C= c.3946C= (p.Leu1316=) c.162C= c.4126C= (p.Leu1376=) c.3793C= (p.Leu1265=) | |
| 7 | g.117664760C>G | CA368982403 | CFTR | c.*245C>G (n.*245C>G) c.*3750C>G (n.*3750C>G) c.3853C>G (p.Leu1285Val) c.*249C>G (n.*249C>G) c.*689C>G (n.*689C>G) c.4036C>G (p.Leu1346Val) c.*697C>G (n.*697C>G) c.*2411C>G (n.*2411C>G) c.4030C>G (p.Leu1344Val) c.*3860C>G (n.*3860C>G) c.3610C>G (p.Leu1204Val) n.2204C>G c.900C>G (n.900C>G) c.1823C>G (n.1823C>G) c.618C>G c.1486C>G c.3946C>G (p.Leu1316Val) c.162C>G c.4126C>G (p.Leu1376Val) c.3793C>G (p.Leu1265Val) | |
| 7 | g.117664760C>T | CA457230305 | CFTR | c.*245C>T (n.*245C>T) c.*3750C>T (n.*3750C>T) c.3853C>T (p.Leu1285=) c.*249C>T (n.*249C>T) c.*689C>T (n.*689C>T) c.4036C>T (p.Leu1346=) c.*697C>T (n.*697C>T) c.*2411C>T (n.*2411C>T) c.4030C>T (p.Leu1344=) c.*3860C>T (n.*3860C>T) c.3610C>T (p.Leu1204=) n.2204C>T c.900C>T (n.900C>T) c.1823C>T (n.1823C>T) c.618C>T c.1486C>T c.3946C>T (p.Leu1316=) c.162C>T c.4126C>T (p.Leu1376=) c.3793C>T (p.Leu1265=) | ClinVar dbSNP |
| 7 | g.117664761T>A | CA368982423 | CFTR | c.*246T>A (n.*246T>A) c.*3751T>A (n.*3751T>A) c.3854T>A (p.Leu1285Gln) c.*250T>A (n.*250T>A) c.*690T>A (n.*690T>A) c.4037T>A (p.Leu1346Gln) c.*698T>A (n.*698T>A) c.*2412T>A (n.*2412T>A) c.4031T>A (p.Leu1344Gln) c.*3861T>A (n.*3861T>A) c.3611T>A (p.Leu1204Gln) n.2205T>A c.901T>A (n.901T>A) c.1824T>A (n.1824T>A) c.619T>A c.1487T>A c.3947T>A (p.Leu1316Gln) c.163T>A c.4127T>A (p.Leu1376Gln) c.3794T>A (p.Leu1265Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117664761T>C | CA368982440 | CFTR | c.*246T>C (n.*246T>C) c.*3751T>C (n.*3751T>C) c.3854T>C (p.Leu1285Pro) c.*250T>C (n.*250T>C) c.*690T>C (n.*690T>C) c.4037T>C (p.Leu1346Pro) c.*698T>C (n.*698T>C) c.*2412T>C (n.*2412T>C) c.4031T>C (p.Leu1344Pro) c.*3861T>C (n.*3861T>C) c.3611T>C (p.Leu1204Pro) n.2205T>C c.901T>C (n.901T>C) c.1824T>C (n.1824T>C) c.619T>C c.1487T>C c.3947T>C (p.Leu1316Pro) c.163T>C c.4127T>C (p.Leu1376Pro) c.3794T>C (p.Leu1265Pro) | ClinVar dbSNP |
| 7 | g.117664761T>G | CA368982444 | CFTR | c.*246T>G (n.*246T>G) c.*3751T>G (n.*3751T>G) c.3854T>G (p.Leu1285Arg) c.*250T>G (n.*250T>G) c.*690T>G (n.*690T>G) c.4037T>G (p.Leu1346Arg) c.*698T>G (n.*698T>G) c.*2412T>G (n.*2412T>G) c.4031T>G (p.Leu1344Arg) c.*3861T>G (n.*3861T>G) c.3611T>G (p.Leu1204Arg) n.2205T>G c.901T>G (n.901T>G) c.1824T>G (n.1824T>G) c.619T>G c.1487T>G c.3947T>G (p.Leu1316Arg) c.163T>G c.4127T>G (p.Leu1376Arg) c.3794T>G (p.Leu1265Arg) | |
| 7 | g.117664761T= | CA1737421930 | CFTR | c.*246T= (n.*246T=) c.*3751T= (n.*3751T=) c.3854T= (p.Leu1285=) c.*250T= (n.*250T=) c.*690T= (n.*690T=) c.4037T= (p.Leu1346=) c.*698T= (n.*698T=) c.*2412T= (n.*2412T=) c.4031T= (p.Leu1344=) c.*3861T= (n.*3861T=) c.3611T= (p.Leu1204=) n.2205T= c.901T= (n.901T=) c.1824T= (n.1824T=) c.619T= c.1487T= c.3947T= (p.Leu1316=) c.163T= c.4127T= (p.Leu1376=) c.3794T= (p.Leu1265=) | |
| 7 | g.117664761dup | CA832122082 | CFTR | c.*246dup (n.*246dup) c.*3751dup (n.*3751dup) c.3854dup (p.Ser1286LysfsTer12) c.*250dup (n.*250dup) c.*690dup (n.*690dup) c.4037dup (p.Ser1347LysfsTer12) c.*698dup (n.*698dup) c.*2412dup (n.*2412dup) c.4031dup (p.Ser1345LysfsTer12) c.*3861dup (n.*3861dup) c.3611dup (p.Ser1205LysfsTer12) n.2205dup c.901dup (n.901dup) c.1824dup (n.1824dup) c.619dup c.1487dup c.3947dup (p.Ser1317LysfsTer12) c.163dup c.4127dup (p.Ser1377LysfsTer12) c.3794dup (p.Ser1266LysfsTer12) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117664762A>C | CA457230306 | CFTR | c.*247A>C (n.*247A>C) c.*3752A>C (n.*3752A>C) c.3855A>C (p.Leu1285=) c.*251A>C (n.*251A>C) c.*691A>C (n.*691A>C) c.4038A>C (p.Leu1346=) c.*699A>C (n.*699A>C) c.*2413A>C (n.*2413A>C) c.4032A>C (p.Leu1344=) c.*3862A>C (n.*3862A>C) c.3612A>C (p.Leu1204=) n.2206A>C c.902A>C (n.902A>C) c.1825A>C (n.1825A>C) c.620A>C c.1488A>C c.3948A>C (p.Leu1316=) c.164A>C c.4128A>C (p.Leu1376=) c.3795A>C (p.Leu1265=) | |
| 7 | g.117664762A>G | CA457230307 | CFTR | c.*247A>G (n.*247A>G) c.*3752A>G (n.*3752A>G) c.3855A>G (p.Leu1285=) c.*251A>G (n.*251A>G) c.*691A>G (n.*691A>G) c.4038A>G (p.Leu1346=) c.*699A>G (n.*699A>G) c.*2413A>G (n.*2413A>G) c.4032A>G (p.Leu1344=) c.*3862A>G (n.*3862A>G) c.3612A>G (p.Leu1204=) n.2206A>G c.902A>G (n.902A>G) c.1825A>G (n.1825A>G) c.620A>G c.1488A>G c.3948A>G (p.Leu1316=) c.164A>G c.4128A>G (p.Leu1376=) c.3795A>G (p.Leu1265=) | |
| 7 | g.117664762A>T | CA457230308 | CFTR | c.*247A>T (n.*247A>T) c.*3752A>T (n.*3752A>T) c.3855A>T (p.Leu1285=) c.*251A>T (n.*251A>T) c.*691A>T (n.*691A>T) c.4038A>T (p.Leu1346=) c.*699A>T (n.*699A>T) c.*2413A>T (n.*2413A>T) c.4032A>T (p.Leu1344=) c.*3862A>T (n.*3862A>T) c.3612A>T (p.Leu1204=) n.2206A>T c.902A>T (n.902A>T) c.1825A>T (n.1825A>T) c.620A>T c.1488A>T c.3948A>T (p.Leu1316=) c.164A>T c.4128A>T (p.Leu1376=) c.3795A>T (p.Leu1265=) | |
| 7 | g.117664763dup | CA327386 | CFTR | c.*248dup (n.*248dup) c.*3753dup (n.*3753dup) c.3856dup (p.Ser1286LysfsTer12) c.*252dup (n.*252dup) c.*692dup (n.*692dup) c.4039dup (p.Ser1347LysfsTer12) c.*700dup (n.*700dup) c.*2414dup (n.*2414dup) c.4033dup (p.Ser1345LysfsTer12) c.*3863dup (n.*3863dup) c.3613dup (p.Ser1205LysfsTer12) n.2207dup c.903dup (n.903dup) c.1826dup (n.1826dup) c.621dup c.1489dup c.3949dup (p.Ser1317LysfsTer12) c.165dup c.4129dup (p.Ser1377LysfsTer12) c.3796dup (p.Ser1266LysfsTer12) | dbSNP |
| 7 | g.117664763A>C | CA368982446 | CFTR | c.*248A>C (n.*248A>C) c.*3753A>C (n.*3753A>C) c.3856A>C (p.Ser1286Arg) c.*252A>C (n.*252A>C) c.*692A>C (n.*692A>C) c.4039A>C (p.Ser1347Arg) c.*700A>C (n.*700A>C) c.*2414A>C (n.*2414A>C) c.4033A>C (p.Ser1345Arg) c.*3863A>C (n.*3863A>C) c.3613A>C (p.Ser1205Arg) n.2207A>C c.903A>C (n.903A>C) c.1826A>C (n.1826A>C) c.621A>C c.1489A>C c.3949A>C (p.Ser1317Arg) c.165A>C c.4129A>C (p.Ser1377Arg) c.3796A>C (p.Ser1266Arg) | |
| 7 | g.117664763A>G | CA368982449 | CFTR | c.*248A>G (n.*248A>G) c.*3753A>G (n.*3753A>G) c.3856A>G (p.Ser1286Gly) c.*252A>G (n.*252A>G) c.*692A>G (n.*692A>G) c.4039A>G (p.Ser1347Gly) c.*700A>G (n.*700A>G) c.*2414A>G (n.*2414A>G) c.4033A>G (p.Ser1345Gly) c.*3863A>G (n.*3863A>G) c.3613A>G (p.Ser1205Gly) n.2207A>G c.903A>G (n.903A>G) c.1826A>G (n.1826A>G) c.621A>G c.1489A>G c.3949A>G (p.Ser1317Gly) c.165A>G c.4129A>G (p.Ser1377Gly) c.3796A>G (p.Ser1266Gly) | |
| 7 | g.117664763A>T | CA368982452 | CFTR | c.*248A>T (n.*248A>T) c.*3753A>T (n.*3753A>T) c.3856A>T (p.Ser1286Cys) c.*252A>T (n.*252A>T) c.*692A>T (n.*692A>T) c.4039A>T (p.Ser1347Cys) c.*700A>T (n.*700A>T) c.*2414A>T (n.*2414A>T) c.4033A>T (p.Ser1345Cys) c.*3863A>T (n.*3863A>T) c.3613A>T (p.Ser1205Cys) n.2207A>T c.903A>T (n.903A>T) c.1826A>T (n.1826A>T) c.621A>T c.1489A>T c.3949A>T (p.Ser1317Cys) c.165A>T c.4129A>T (p.Ser1377Cys) c.3796A>T (p.Ser1266Cys) | |
| 7 | g.117664763_117664765delinsAGC | CA1737421934 | CFTR | c.*248_*250delinsAGC (n.*248_*250delinsAGC) c.*3753_*3755delinsAGC (n.*3753_*3755delinsAGC) c.3856_3858delinsAGC (p.Ser1286=) c.*252_*254delinsAGC (n.*252_*254delinsAGC) c.*692_*694delinsAGC (n.*692_*694delinsAGC) c.4039_4041delinsAGC (p.Ser1347=) c.*700_*702delinsAGC (n.*700_*702delinsAGC) c.*2414_*2416delinsAGC (n.*2414_*2416delinsAGC) c.4033_4035delinsAGC (p.Ser1345=) c.*3863_*3865delinsAGC (n.*3863_*3865delinsAGC) c.3613_3615delinsAGC (p.Ser1205=) n.2207_2209delinsAGC c.903_905delinsAGC (n.903_905delinsAGC) c.1826_1828delinsAGC (n.1826_1828delinsAGC) c.621_623delinsAGC c.1489_1491delinsAGC c.3949_3951delinsAGC (p.Ser1317=) c.165_167delinsAGC c.4129_4131delinsAGC (p.Ser1377=) c.3796_3798delinsAGC (p.Ser1266=) | |
| 7 | g.117664764G>A | CA4451614 | CFTR | c.*249G>A (n.*249G>A) c.*3754G>A (n.*3754G>A) c.3857G>A (p.Ser1286Asn) c.*253G>A (n.*253G>A) c.*693G>A (n.*693G>A) c.4040G>A (p.Ser1347Asn) c.*701G>A (n.*701G>A) c.*2415G>A (n.*2415G>A) c.4034G>A (p.Ser1345Asn) c.*3864G>A (n.*3864G>A) c.3614G>A (p.Ser1205Asn) n.2208G>A c.904G>A (n.904G>A) c.1827G>A (n.1827G>A) c.622G>A c.1490G>A c.3950G>A (p.Ser1317Asn) c.166G>A c.4130G>A (p.Ser1377Asn) c.3797G>A (p.Ser1266Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117664764G>C | CA368982458 | CFTR | c.*249G>C (n.*249G>C) c.*3754G>C (n.*3754G>C) c.3857G>C (p.Ser1286Thr) c.*253G>C (n.*253G>C) c.*693G>C (n.*693G>C) c.4040G>C (p.Ser1347Thr) c.*701G>C (n.*701G>C) c.*2415G>C (n.*2415G>C) c.4034G>C (p.Ser1345Thr) c.*3864G>C (n.*3864G>C) c.3614G>C (p.Ser1205Thr) n.2208G>C c.904G>C (n.904G>C) c.1827G>C (n.1827G>C) c.622G>C c.1490G>C c.3950G>C (p.Ser1317Thr) c.166G>C c.4130G>C (p.Ser1377Thr) c.3797G>C (p.Ser1266Thr) | |
| 7 | g.117664764G= | CA1737421943 | CFTR | c.*249G= (n.*249G=) c.*3754G= (n.*3754G=) c.3857G= (p.Ser1286=) c.*253G= (n.*253G=) c.*693G= (n.*693G=) c.4040G= (p.Ser1347=) c.*701G= (n.*701G=) c.*2415G= (n.*2415G=) c.4034G= (p.Ser1345=) c.*3864G= (n.*3864G=) c.3614G= (p.Ser1205=) n.2208G= c.904G= (n.904G=) c.1827G= (n.1827G=) c.622G= c.1490G= c.3950G= (p.Ser1317=) c.166G= c.4130G= (p.Ser1377=) c.3797G= (p.Ser1266=) | |
| 7 | g.117664764G>T | CA368982461 | CFTR | c.*249G>T (n.*249G>T) c.*3754G>T (n.*3754G>T) c.3857G>T (p.Ser1286Ile) c.*253G>T (n.*253G>T) c.*693G>T (n.*693G>T) c.4040G>T (p.Ser1347Ile) c.*701G>T (n.*701G>T) c.*2415G>T (n.*2415G>T) c.4034G>T (p.Ser1345Ile) c.*3864G>T (n.*3864G>T) c.3614G>T (p.Ser1205Ile) n.2208G>T c.904G>T (n.904G>T) c.1827G>T (n.1827G>T) c.622G>T c.1490G>T c.3950G>T (p.Ser1317Ile) c.166G>T c.4130G>T (p.Ser1377Ile) c.3797G>T (p.Ser1266Ile) | |
| 7 | g.117664764_117664765del | CA327387 | CFTR | c.*249_*250del (n.*249_*250del) c.*3754_*3755del (n.*3754_*3755del) c.3857_3858del (p.Ser1286ThrfsTer11) c.*253_*254del (n.*253_*254del) c.*693_*694del (n.*693_*694del) c.4040_4041del (p.Ser1347ThrfsTer11) c.*701_*702del (n.*701_*702del) c.*2415_*2416del (n.*2415_*2416del) c.4034_4035del (p.Ser1345ThrfsTer11) c.*3864_*3865del (n.*3864_*3865del) c.3614_3615del (p.Ser1205ThrfsTer11) n.2208_2209del c.904_905del (n.904_905del) c.1827_1828del (n.1827_1828del) c.622_623del c.1490_1491del c.3950_3951del (p.Ser1317ThrfsTer11) c.166_167del c.4130_4131del (p.Ser1377ThrfsTer11) c.3797_3798del (p.Ser1266ThrfsTer11) | ClinVar dbSNP |
| 7 | g.117664764_117664765delinsGC | CA1737421941 | CFTR | c.*249_*250delinsGC (n.*249_*250delinsGC) c.*3754_*3755delinsGC (n.*3754_*3755delinsGC) c.3857_3858delinsGC (p.Ser1286=) c.*253_*254delinsGC (n.*253_*254delinsGC) c.*693_*694delinsGC (n.*693_*694delinsGC) c.4040_4041delinsGC (p.Ser1347=) c.*701_*702delinsGC (n.*701_*702delinsGC) c.*2415_*2416delinsGC (n.*2415_*2416delinsGC) c.4034_4035delinsGC (p.Ser1345=) c.*3864_*3865delinsGC (n.*3864_*3865delinsGC) c.3614_3615delinsGC (p.Ser1205=) n.2208_2209delinsGC c.904_905delinsGC (n.904_905delinsGC) c.1827_1828delinsGC (n.1827_1828delinsGC) c.622_623delinsGC c.1490_1491delinsGC c.3950_3951delinsGC (p.Ser1317=) c.166_167delinsGC c.4130_4131delinsGC (p.Ser1377=) c.3797_3798delinsGC (p.Ser1266=) | |
| 7 | g.117664765C>A | CA368982479 | CFTR | c.*250C>A (n.*250C>A) c.*3755C>A (n.*3755C>A) c.3858C>A (p.Ser1286Arg) c.*254C>A (n.*254C>A) c.*694C>A (n.*694C>A) c.4041C>A (p.Ser1347Arg) c.*702C>A (n.*702C>A) c.*2416C>A (n.*2416C>A) c.4035C>A (p.Ser1345Arg) c.*3865C>A (n.*3865C>A) c.3615C>A (p.Ser1205Arg) n.2209C>A c.905C>A (n.905C>A) c.1828C>A (n.1828C>A) c.623C>A c.1491C>A c.3951C>A (p.Ser1317Arg) c.167C>A c.4131C>A (p.Ser1377Arg) c.3798C>A (p.Ser1266Arg) | |
| 7 | g.117664765C>G | CA368982484 | CFTR | c.*250C>G (n.*250C>G) c.*3755C>G (n.*3755C>G) c.3858C>G (p.Ser1286Arg) c.*254C>G (n.*254C>G) c.*694C>G (n.*694C>G) c.4041C>G (p.Ser1347Arg) c.*702C>G (n.*702C>G) c.*2416C>G (n.*2416C>G) c.4035C>G (p.Ser1345Arg) c.*3865C>G (n.*3865C>G) c.3615C>G (p.Ser1205Arg) n.2209C>G c.905C>G (n.905C>G) c.1828C>G (n.1828C>G) c.623C>G c.1491C>G c.3951C>G (p.Ser1317Arg) c.167C>G c.4131C>G (p.Ser1377Arg) c.3798C>G (p.Ser1266Arg) | |
| 7 | g.117664765C>T | CA457230309 | CFTR | c.*250C>T (n.*250C>T) c.*3755C>T (n.*3755C>T) c.3858C>T (p.Ser1286=) c.*254C>T (n.*254C>T) c.*694C>T (n.*694C>T) c.4041C>T (p.Ser1347=) c.*702C>T (n.*702C>T) c.*2416C>T (n.*2416C>T) c.4035C>T (p.Ser1345=) c.*3865C>T (n.*3865C>T) c.3615C>T (p.Ser1205=) n.2209C>T c.905C>T (n.905C>T) c.1828C>T (n.1828C>T) c.623C>T c.1491C>T c.3951C>T (p.Ser1317=) c.167C>T c.4131C>T (p.Ser1377=) c.3798C>T (p.Ser1266=) | |
| 7 | g.117664766del | CA327388 | CFTR | c.*251del (n.*251del) c.*3756del (n.*3756del) c.3859del (p.His1287MetfsTer6) c.*255del (n.*255del) c.*695del (n.*695del) c.4042del (p.His1348MetfsTer6) c.*703del (n.*703del) c.*2417del (n.*2417del) c.4036del (p.His1346MetfsTer6) c.*3866del (n.*3866del) c.3616del (p.His1206MetfsTer6) n.2210del c.906del (n.906del) c.1829del (n.1829del) c.624del c.1492del c.3952del (p.His1318MetfsTer6) c.168del c.4132del (p.His1378MetfsTer6) c.3799del (p.His1267MetfsTer6) | ClinVar dbSNP |
| 7 | g.117664766C>A | CA368982494 | CFTR | c.*251C>A (n.*251C>A) c.*3756C>A (n.*3756C>A) c.3859C>A (p.His1287Asn) c.*255C>A (n.*255C>A) c.*695C>A (n.*695C>A) c.4042C>A (p.His1348Asn) c.*703C>A (n.*703C>A) c.*2417C>A (n.*2417C>A) c.4036C>A (p.His1346Asn) c.*3866C>A (n.*3866C>A) c.3616C>A (p.His1206Asn) n.2210C>A c.906C>A (n.906C>A) c.1829C>A (n.1829C>A) c.624C>A c.1492C>A c.3952C>A (p.His1318Asn) c.168C>A c.4132C>A (p.His1378Asn) c.3799C>A (p.His1267Asn) | ClinVar |
| 7 | g.117664766C>G | CA368982496 | CFTR | c.*251C>G (n.*251C>G) c.*3756C>G (n.*3756C>G) c.3859C>G (p.His1287Asp) c.*255C>G (n.*255C>G) c.*695C>G (n.*695C>G) c.4042C>G (p.His1348Asp) c.*703C>G (n.*703C>G) c.*2417C>G (n.*2417C>G) c.4036C>G (p.His1346Asp) c.*3866C>G (n.*3866C>G) c.3616C>G (p.His1206Asp) n.2210C>G c.906C>G (n.906C>G) c.1829C>G (n.1829C>G) c.624C>G c.1492C>G c.3952C>G (p.His1318Asp) c.168C>G c.4132C>G (p.His1378Asp) c.3799C>G (p.His1267Asp) | |
| 7 | g.117664766C>T | CA368982499 | CFTR | c.*251C>T (n.*251C>T) c.*3756C>T (n.*3756C>T) c.3859C>T (p.His1287Tyr) c.*255C>T (n.*255C>T) c.*695C>T (n.*695C>T) c.4042C>T (p.His1348Tyr) c.*703C>T (n.*703C>T) c.*2417C>T (n.*2417C>T) c.4036C>T (p.His1346Tyr) c.*3866C>T (n.*3866C>T) c.3616C>T (p.His1206Tyr) n.2210C>T c.906C>T (n.906C>T) c.1829C>T (n.1829C>T) c.624C>T c.1492C>T c.3952C>T (p.His1318Tyr) c.168C>T c.4132C>T (p.His1378Tyr) c.3799C>T (p.His1267Tyr) | |
| 7 | g.117664767A>C | CA368982522 | CFTR | c.*252A>C (n.*252A>C) c.*3757A>C (n.*3757A>C) c.3860A>C (p.His1287Pro) c.*256A>C (n.*256A>C) c.*696A>C (n.*696A>C) c.4043A>C (p.His1348Pro) c.*704A>C (n.*704A>C) c.*2418A>C (n.*2418A>C) c.4037A>C (p.His1346Pro) c.*3867A>C (n.*3867A>C) c.3617A>C (p.His1206Pro) n.2211A>C c.907A>C (n.907A>C) c.1830A>C (n.1830A>C) c.625A>C c.1493A>C c.3953A>C (p.His1318Pro) c.169A>C c.4133A>C (p.His1378Pro) c.3800A>C (p.His1267Pro) | |
| 7 | g.117664767A>G | CA368982508 | CFTR | c.*252A>G (n.*252A>G) c.*3757A>G (n.*3757A>G) c.3860A>G (p.His1287Arg) c.*256A>G (n.*256A>G) c.*696A>G (n.*696A>G) c.4043A>G (p.His1348Arg) c.*704A>G (n.*704A>G) c.*2418A>G (n.*2418A>G) c.4037A>G (p.His1346Arg) c.*3867A>G (n.*3867A>G) c.3617A>G (p.His1206Arg) n.2211A>G c.907A>G (n.907A>G) c.1830A>G (n.1830A>G) c.625A>G c.1493A>G c.3953A>G (p.His1318Arg) c.169A>G c.4133A>G (p.His1378Arg) c.3800A>G (p.His1267Arg) | |
| 7 | g.117664767A>T | CA368982526 | CFTR | c.*252A>T (n.*252A>T) c.*3757A>T (n.*3757A>T) c.3860A>T (p.His1287Leu) c.*256A>T (n.*256A>T) c.*696A>T (n.*696A>T) c.4043A>T (p.His1348Leu) c.*704A>T (n.*704A>T) c.*2418A>T (n.*2418A>T) c.4037A>T (p.His1346Leu) c.*3867A>T (n.*3867A>T) c.3617A>T (p.His1206Leu) n.2211A>T c.907A>T (n.907A>T) c.1830A>T (n.1830A>T) c.625A>T c.1493A>T c.3953A>T (p.His1318Leu) c.169A>T c.4133A>T (p.His1378Leu) c.3800A>T (p.His1267Leu) | |
| 7 | g.117664768T>A | CA368982536 | CFTR | c.*253T>A (n.*253T>A) c.*3758T>A (n.*3758T>A) c.3861T>A (p.His1287Gln) c.*257T>A (n.*257T>A) c.*697T>A (n.*697T>A) c.4044T>A (p.His1348Gln) c.*705T>A (n.*705T>A) c.*2419T>A (n.*2419T>A) c.4038T>A (p.His1346Gln) c.*3868T>A (n.*3868T>A) c.3618T>A (p.His1206Gln) n.2212T>A c.908T>A (n.908T>A) c.1831T>A (n.1831T>A) c.626T>A c.1494T>A c.3954T>A (p.His1318Gln) c.170T>A c.4134T>A (p.His1378Gln) c.3801T>A (p.His1267Gln) | |
| 7 | g.117664768T>C | CA457230310 | CFTR | c.*253T>C (n.*253T>C) c.*3758T>C (n.*3758T>C) c.3861T>C (p.His1287=) c.*257T>C (n.*257T>C) c.*697T>C (n.*697T>C) c.4044T>C (p.His1348=) c.*705T>C (n.*705T>C) c.*2419T>C (n.*2419T>C) c.4038T>C (p.His1346=) c.*3868T>C (n.*3868T>C) c.3618T>C (p.His1206=) n.2212T>C c.908T>C (n.908T>C) c.1831T>C (n.1831T>C) c.626T>C c.1494T>C c.3954T>C (p.His1318=) c.170T>C c.4134T>C (p.His1378=) c.3801T>C (p.His1267=) | ClinVar |
| 7 | g.117664768T>G | CA368982541 | CFTR | c.*253T>G (n.*253T>G) c.*3758T>G (n.*3758T>G) c.3861T>G (p.His1287Gln) c.*257T>G (n.*257T>G) c.*697T>G (n.*697T>G) c.4044T>G (p.His1348Gln) c.*705T>G (n.*705T>G) c.*2419T>G (n.*2419T>G) c.4038T>G (p.His1346Gln) c.*3868T>G (n.*3868T>G) c.3618T>G (p.His1206Gln) n.2212T>G c.908T>G (n.908T>G) c.1831T>G (n.1831T>G) c.626T>G c.1494T>G c.3954T>G (p.His1318Gln) c.170T>G c.4134T>G (p.His1378Gln) c.3801T>G (p.His1267Gln) | |
| 7 | g.117664768_117664769delinsTG | CA1737421951 | CFTR | c.*253_*254delinsTG (n.*253_*254delinsTG) c.*3758_*3759delinsTG (n.*3758_*3759delinsTG) c.3861_3862delinsTG (p.His1287=) c.*257_*258delinsTG (n.*257_*258delinsTG) c.*697_*698delinsTG (n.*697_*698delinsTG) c.4044_4045delinsTG (p.His1348=) c.*705_*706delinsTG (n.*705_*706delinsTG) c.*2419_*2420delinsTG (n.*2419_*2420delinsTG) c.4038_4039delinsTG (p.His1346=) c.*3868_*3869delinsTG (n.*3868_*3869delinsTG) c.3618_3619delinsTG (p.His1206=) n.2212_2213delinsTG c.908_909delinsTG (n.908_909delinsTG) c.1831_1832delinsTG (n.1831_1832delinsTG) c.626_627delinsTG c.1494_1495delinsTG c.3954_3955delinsTG (p.His1318=) c.170_171delinsTG c.4134_4135delinsTG (p.His1378=) c.3801_3802delinsTG (p.His1267=) | |
| 7 | g.117664769G>A | CA327389 | CFTR | c.*254G>A (n.*254G>A) c.*3759G>A (n.*3759G>A) c.3862G>A (p.Gly1288Ser) c.*258G>A (n.*258G>A) c.*698G>A (n.*698G>A) c.4045G>A (p.Gly1349Ser) c.*706G>A (n.*706G>A) c.*2420G>A (n.*2420G>A) c.4039G>A (p.Gly1347Ser) c.*3869G>A (n.*3869G>A) c.3619G>A (p.Gly1207Ser) n.2213G>A c.909G>A (n.909G>A) c.1832G>A (n.1832G>A) c.627G>A c.1495G>A c.3955G>A (p.Gly1319Ser) c.171G>A c.4135G>A (p.Gly1379Ser) c.3802G>A (p.Gly1268Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117664769G>C | CA368982552 | CFTR | c.*254G>C (n.*254G>C) c.*3759G>C (n.*3759G>C) c.3862G>C (p.Gly1288Arg) c.*258G>C (n.*258G>C) c.*698G>C (n.*698G>C) c.4045G>C (p.Gly1349Arg) c.*706G>C (n.*706G>C) c.*2420G>C (n.*2420G>C) c.4039G>C (p.Gly1347Arg) c.*3869G>C (n.*3869G>C) c.3619G>C (p.Gly1207Arg) n.2213G>C c.909G>C (n.909G>C) c.1832G>C (n.1832G>C) c.627G>C c.1495G>C c.3955G>C (p.Gly1319Arg) c.171G>C c.4135G>C (p.Gly1379Arg) c.3802G>C (p.Gly1268Arg) | |
| 7 | g.117664769G= | CA1737421957 | CFTR | c.*254G= (n.*254G=) c.*3759G= (n.*3759G=) c.3862G= (p.Gly1288=) c.*258G= (n.*258G=) c.*698G= (n.*698G=) c.4045G= (p.Gly1349=) c.*706G= (n.*706G=) c.*2420G= (n.*2420G=) c.4039G= (p.Gly1347=) c.*3869G= (n.*3869G=) c.3619G= (p.Gly1207=) n.2213G= c.909G= (n.909G=) c.1832G= (n.1832G=) c.627G= c.1495G= c.3955G= (p.Gly1319=) c.171G= c.4135G= (p.Gly1379=) c.3802G= (p.Gly1268=) | |
| 7 | g.117664769G>T | CA368982556 | CFTR | c.*254G>T (n.*254G>T) c.*3759G>T (n.*3759G>T) c.3862G>T (p.Gly1288Cys) c.*258G>T (n.*258G>T) c.*698G>T (n.*698G>T) c.4045G>T (p.Gly1349Cys) c.*706G>T (n.*706G>T) c.*2420G>T (n.*2420G>T) c.4039G>T (p.Gly1347Cys) c.*3869G>T (n.*3869G>T) c.3619G>T (p.Gly1207Cys) n.2213G>T c.909G>T (n.909G>T) c.1832G>T (n.1832G>T) c.627G>T c.1495G>T c.3955G>T (p.Gly1319Cys) c.171G>T c.4135G>T (p.Gly1379Cys) c.3802G>T (p.Gly1268Cys) |