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.117664828_117664855dup | CA2684649159 | CFTR | c.*313_*340dup (n.*313_*340dup) c.*3818_*3845dup (n.*3818_*3845dup) c.3921_3948dup (p.Pro1317AlafsTer2) c.*317_*344dup (n.*317_*344dup) c.*757_*784dup (n.*757_*784dup) c.4104_4131dup (p.Pro1378AlafsTer2) c.*765_*792dup (n.*765_*792dup) c.*2479_*2506dup (n.*2479_*2506dup) c.4098_4125dup (p.Pro1376AlafsTer2) c.*3928_*3955dup (n.*3928_*3955dup) c.3678_3705dup (p.Pro1236AlafsTer2) n.2272_2299dup c.968_995dup (n.968_995dup) c.1891_1918dup (n.1891_1918dup) c.686_713dup c.1554_1581dup c.4014_4041dup (p.Pro1348AlafsTer2) c.230_257dup c.4194_4221dup (p.Pro1408AlafsTer2) c.3861_3888dup (p.Pro1297AlafsTer2) | gnomAD v4 |
7 | g.117664835G>A | CA368982947 | CFTR | c.*320G>A (n.*320G>A) c.*3825G>A (n.*3825G>A) c.3928G>A (p.Glu1310Lys) c.*324G>A (n.*324G>A) c.*764G>A (n.*764G>A) c.4111G>A (p.Glu1371Lys) c.*772G>A (n.*772G>A) c.*2486G>A (n.*2486G>A) c.4105G>A (p.Glu1369Lys) c.*3935G>A (n.*3935G>A) c.3685G>A (p.Glu1229Lys) n.2279G>A c.975G>A (n.975G>A) c.1898G>A (n.1898G>A) c.693G>A c.1561G>A c.4021G>A (p.Glu1341Lys) c.237G>A c.4201G>A (p.Glu1401Lys) c.3868G>A (p.Glu1290Lys) | |
7 | g.117664835G>C | CA368982951 | CFTR | c.*320G>C (n.*320G>C) c.*3825G>C (n.*3825G>C) c.3928G>C (p.Glu1310Gln) c.*324G>C (n.*324G>C) c.*764G>C (n.*764G>C) c.4111G>C (p.Glu1371Gln) c.*772G>C (n.*772G>C) c.*2486G>C (n.*2486G>C) c.4105G>C (p.Glu1369Gln) c.*3935G>C (n.*3935G>C) c.3685G>C (p.Glu1229Gln) n.2279G>C c.975G>C (n.975G>C) c.1898G>C (n.1898G>C) c.693G>C c.1561G>C c.4021G>C (p.Glu1341Gln) c.237G>C c.4201G>C (p.Glu1401Gln) c.3868G>C (p.Glu1290Gln) | |
7 | g.117664835G= | CA1737422182 | CFTR | c.*320G= (n.*320G=) c.*3825G= (n.*3825G=) c.3928G= (p.Glu1310=) c.*324G= (n.*324G=) c.*764G= (n.*764G=) c.4111G= (p.Glu1371=) c.*772G= (n.*772G=) c.*2486G= (n.*2486G=) c.4105G= (p.Glu1369=) c.*3935G= (n.*3935G=) c.3685G= (p.Glu1229=) n.2279G= c.975G= (n.975G=) c.1898G= (n.1898G=) c.693G= c.1561G= c.4021G= (p.Glu1341=) c.237G= c.4201G= (p.Glu1401=) c.3868G= (p.Glu1290=) | |
7 | g.117664835G>T | CA327404 | CFTR | c.*320G>T (n.*320G>T) c.*3825G>T (n.*3825G>T) c.3928G>T (p.Glu1310Ter) c.*324G>T (n.*324G>T) c.*764G>T (n.*764G>T) c.4111G>T (p.Glu1371Ter) c.*772G>T (n.*772G>T) c.*2486G>T (n.*2486G>T) c.4105G>T (p.Glu1369Ter) c.*3935G>T (n.*3935G>T) c.3685G>T (p.Glu1229Ter) n.2279G>T c.975G>T (n.975G>T) c.1898G>T (n.1898G>T) c.693G>T c.1561G>T c.4021G>T (p.Glu1341Ter) c.237G>T c.4201G>T (p.Glu1401Ter) c.3868G>T (p.Glu1290Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117664835_117664837dup | CA2580076372 | CFTR | c.*320_*322dup (n.*320_*322dup) c.*3825_*3827dup (n.*3825_*3827dup) c.3928_3930dup (p.Glu1310_Pro1311insGlu) c.*324_*326dup (n.*324_*326dup) c.*764_*766dup (n.*764_*766dup) c.4111_4113dup (p.Glu1371_Pro1372insGlu) c.*772_*774dup (n.*772_*774dup) c.*2486_*2488dup (n.*2486_*2488dup) c.4105_4107dup (p.Glu1369_Pro1370insGlu) c.*3935_*3937dup (n.*3935_*3937dup) c.3685_3687dup (p.Glu1229_Pro1230insGlu) n.2279_2281dup c.975_977dup (n.975_977dup) c.1898_1900dup (n.1898_1900dup) c.693_695dup c.1561_1563dup c.4021_4023dup (p.Glu1341_Pro1342insGlu) c.237_239dup c.4201_4203dup (p.Glu1401_Pro1402insGlu) c.3868_3870dup (p.Glu1290_Pro1291insGlu) | ClinVar |
7 | g.117664836A>C | CA368982962 | CFTR | c.*321A>C (n.*321A>C) c.*3826A>C (n.*3826A>C) c.3929A>C (p.Glu1310Ala) c.*325A>C (n.*325A>C) c.*765A>C (n.*765A>C) c.4112A>C (p.Glu1371Ala) c.*773A>C (n.*773A>C) c.*2487A>C (n.*2487A>C) c.4106A>C (p.Glu1369Ala) c.*3936A>C (n.*3936A>C) c.3686A>C (p.Glu1229Ala) n.2280A>C c.976A>C (n.976A>C) c.1899A>C (n.1899A>C) c.694A>C c.1562A>C c.4022A>C (p.Glu1341Ala) c.238A>C c.4202A>C (p.Glu1401Ala) c.3869A>C (p.Glu1290Ala) | |
7 | g.117664836A>G | CA368982957 | CFTR | c.*321A>G (n.*321A>G) c.*3826A>G (n.*3826A>G) c.3929A>G (p.Glu1310Gly) c.*325A>G (n.*325A>G) c.*765A>G (n.*765A>G) c.4112A>G (p.Glu1371Gly) c.*773A>G (n.*773A>G) c.*2487A>G (n.*2487A>G) c.4106A>G (p.Glu1369Gly) c.*3936A>G (n.*3936A>G) c.3686A>G (p.Glu1229Gly) n.2280A>G c.976A>G (n.976A>G) c.1899A>G (n.1899A>G) c.694A>G c.1562A>G c.4022A>G (p.Glu1341Gly) c.238A>G c.4202A>G (p.Glu1401Gly) c.3869A>G (p.Glu1290Gly) | |
7 | g.117664836A>T | CA368982960 | CFTR | c.*321A>T (n.*321A>T) c.*3826A>T (n.*3826A>T) c.3929A>T (p.Glu1310Val) c.*325A>T (n.*325A>T) c.*765A>T (n.*765A>T) c.4112A>T (p.Glu1371Val) c.*773A>T (n.*773A>T) c.*2487A>T (n.*2487A>T) c.4106A>T (p.Glu1369Val) c.*3936A>T (n.*3936A>T) c.3686A>T (p.Glu1229Val) n.2280A>T c.976A>T (n.976A>T) c.1899A>T (n.1899A>T) c.694A>T c.1562A>T c.4022A>T (p.Glu1341Val) c.238A>T c.4202A>T (p.Glu1401Val) c.3869A>T (p.Glu1290Val) | |
7 | g.117664837A= | CA1737422185 | CFTR | c.*322A= (n.*322A=) c.*3827A= (n.*3827A=) c.3930A= (p.Glu1310=) c.*326A= (n.*326A=) c.*766A= (n.*766A=) c.4113A= (p.Glu1371=) c.*774A= (n.*774A=) c.*2488A= (n.*2488A=) c.4107A= (p.Glu1369=) c.*3937A= (n.*3937A=) c.3687A= (p.Glu1229=) n.2281A= c.977A= (n.977A=) c.1900A= (n.1900A=) c.695A= c.1563A= c.4023A= (p.Glu1341=) c.239A= c.4203A= (p.Glu1401=) c.3870A= (p.Glu1290=) | |
7 | g.117664837A>C | CA368982964 | CFTR | c.*322A>C (n.*322A>C) c.*3827A>C (n.*3827A>C) c.3930A>C (p.Glu1310Asp) c.*326A>C (n.*326A>C) c.*766A>C (n.*766A>C) c.4113A>C (p.Glu1371Asp) c.*774A>C (n.*774A>C) c.*2488A>C (n.*2488A>C) c.4107A>C (p.Glu1369Asp) c.*3937A>C (n.*3937A>C) c.3687A>C (p.Glu1229Asp) n.2281A>C c.977A>C (n.977A>C) c.1900A>C (n.1900A>C) c.695A>C c.1563A>C c.4023A>C (p.Glu1341Asp) c.239A>C c.4203A>C (p.Glu1401Asp) c.3870A>C (p.Glu1290Asp) | |
7 | g.117664837A>G | CA457230539 | CFTR | c.*322A>G (n.*322A>G) c.*3827A>G (n.*3827A>G) c.3930A>G (p.Glu1310=) c.*326A>G (n.*326A>G) c.*766A>G (n.*766A>G) c.4113A>G (p.Glu1371=) c.*774A>G (n.*774A>G) c.*2488A>G (n.*2488A>G) c.4107A>G (p.Glu1369=) c.*3937A>G (n.*3937A>G) c.3687A>G (p.Glu1229=) n.2281A>G c.977A>G (n.977A>G) c.1900A>G (n.1900A>G) c.695A>G c.1563A>G c.4023A>G (p.Glu1341=) c.239A>G c.4203A>G (p.Glu1401=) c.3870A>G (p.Glu1290=) | dbSNP |
7 | g.117664837A>T | CA368982967 | CFTR | c.*322A>T (n.*322A>T) c.*3827A>T (n.*3827A>T) c.3930A>T (p.Glu1310Asp) c.*326A>T (n.*326A>T) c.*766A>T (n.*766A>T) c.4113A>T (p.Glu1371Asp) c.*774A>T (n.*774A>T) c.*2488A>T (n.*2488A>T) c.4107A>T (p.Glu1369Asp) c.*3937A>T (n.*3937A>T) c.3687A>T (p.Glu1229Asp) n.2281A>T c.977A>T (n.977A>T) c.1900A>T (n.1900A>T) c.695A>T c.1563A>T c.4023A>T (p.Glu1341Asp) c.239A>T c.4203A>T (p.Glu1401Asp) c.3870A>T (p.Glu1290Asp) | |
7 | g.117664838C>A | CA327406 | CFTR | c.*323C>A (n.*323C>A) c.*3828C>A (n.*3828C>A) c.3931C>A (p.Pro1311Thr) c.*327C>A (n.*327C>A) c.*767C>A (n.*767C>A) c.4114C>A (p.Pro1372Thr) c.*775C>A (n.*775C>A) c.*2489C>A (n.*2489C>A) c.4108C>A (p.Pro1370Thr) c.*3938C>A (n.*3938C>A) c.3688C>A (p.Pro1230Thr) n.2282C>A c.978C>A (n.978C>A) c.1901C>A (n.1901C>A) c.696C>A c.1564C>A c.4024C>A (p.Pro1342Thr) c.240C>A c.4204C>A (p.Pro1402Thr) c.3871C>A (p.Pro1291Thr) | ClinVar dbSNP |
7 | g.117664838C= | CA1737422188 | CFTR | c.*323C= (n.*323C=) c.*3828C= (n.*3828C=) c.3931C= (p.Pro1311=) c.*327C= (n.*327C=) c.*767C= (n.*767C=) c.4114C= (p.Pro1372=) c.*775C= (n.*775C=) c.*2489C= (n.*2489C=) c.4108C= (p.Pro1370=) c.*3938C= (n.*3938C=) c.3688C= (p.Pro1230=) n.2282C= c.978C= (n.978C=) c.1901C= (n.1901C=) c.696C= c.1564C= c.4024C= (p.Pro1342=) c.240C= c.4204C= (p.Pro1402=) c.3871C= (p.Pro1291=) | |
7 | g.117664838C>G | CA368982973 | CFTR | c.*323C>G (n.*323C>G) c.*3828C>G (n.*3828C>G) c.3931C>G (p.Pro1311Ala) c.*327C>G (n.*327C>G) c.*767C>G (n.*767C>G) c.4114C>G (p.Pro1372Ala) c.*775C>G (n.*775C>G) c.*2489C>G (n.*2489C>G) c.4108C>G (p.Pro1370Ala) c.*3938C>G (n.*3938C>G) c.3688C>G (p.Pro1230Ala) n.2282C>G c.978C>G (n.978C>G) c.1901C>G (n.1901C>G) c.696C>G c.1564C>G c.4024C>G (p.Pro1342Ala) c.240C>G c.4204C>G (p.Pro1402Ala) c.3871C>G (p.Pro1291Ala) | |
7 | g.117664838C>T | CA368982977 | CFTR | c.*323C>T (n.*323C>T) c.*3828C>T (n.*3828C>T) c.3931C>T (p.Pro1311Ser) c.*327C>T (n.*327C>T) c.*767C>T (n.*767C>T) c.4114C>T (p.Pro1372Ser) c.*775C>T (n.*775C>T) c.*2489C>T (n.*2489C>T) c.4108C>T (p.Pro1370Ser) c.*3938C>T (n.*3938C>T) c.3688C>T (p.Pro1230Ser) n.2282C>T c.978C>T (n.978C>T) c.1901C>T (n.1901C>T) c.696C>T c.1564C>T c.4024C>T (p.Pro1342Ser) c.240C>T c.4204C>T (p.Pro1402Ser) c.3871C>T (p.Pro1291Ser) | |
7 | g.117664839C>A | CA368982981 | CFTR | c.*324C>A (n.*324C>A) c.*3829C>A (n.*3829C>A) c.3932C>A (p.Pro1311His) c.*328C>A (n.*328C>A) c.*768C>A (n.*768C>A) c.4115C>A (p.Pro1372His) c.*776C>A (n.*776C>A) c.*2490C>A (n.*2490C>A) c.4109C>A (p.Pro1370His) c.*3939C>A (n.*3939C>A) c.3689C>A (p.Pro1230His) n.2283C>A c.979C>A (n.979C>A) c.1902C>A (n.1902C>A) c.697C>A c.1565C>A c.4025C>A (p.Pro1342His) c.241C>A c.4205C>A (p.Pro1402His) c.3872C>A (p.Pro1291His) | gnomAD v4 |
7 | g.117664839C= | CA1737422190 | CFTR | c.*324C= (n.*324C=) c.*3829C= (n.*3829C=) c.3932C= (p.Pro1311=) c.*328C= (n.*328C=) c.*768C= (n.*768C=) c.4115C= (p.Pro1372=) c.*776C= (n.*776C=) c.*2490C= (n.*2490C=) c.4109C= (p.Pro1370=) c.*3939C= (n.*3939C=) c.3689C= (p.Pro1230=) n.2283C= c.979C= (n.979C=) c.1902C= (n.1902C=) c.697C= c.1565C= c.4025C= (p.Pro1342=) c.241C= c.4205C= (p.Pro1402=) c.3872C= (p.Pro1291=) | |
7 | g.117664839C>G | CA368982982 | CFTR | c.*324C>G (n.*324C>G) c.*3829C>G (n.*3829C>G) c.3932C>G (p.Pro1311Arg) c.*328C>G (n.*328C>G) c.*768C>G (n.*768C>G) c.4115C>G (p.Pro1372Arg) c.*776C>G (n.*776C>G) c.*2490C>G (n.*2490C>G) c.4109C>G (p.Pro1370Arg) c.*3939C>G (n.*3939C>G) c.3689C>G (p.Pro1230Arg) n.2283C>G c.979C>G (n.979C>G) c.1902C>G (n.1902C>G) c.697C>G c.1565C>G c.4025C>G (p.Pro1342Arg) c.241C>G c.4205C>G (p.Pro1402Arg) c.3872C>G (p.Pro1291Arg) | |
7 | g.117664839C>T | CA327408 | CFTR | c.*324C>T (n.*324C>T) c.*3829C>T (n.*3829C>T) c.3932C>T (p.Pro1311Leu) c.*328C>T (n.*328C>T) c.*768C>T (n.*768C>T) c.4115C>T (p.Pro1372Leu) c.*776C>T (n.*776C>T) c.*2490C>T (n.*2490C>T) c.4109C>T (p.Pro1370Leu) c.*3939C>T (n.*3939C>T) c.3689C>T (p.Pro1230Leu) n.2283C>T c.979C>T (n.979C>T) c.1902C>T (n.1902C>T) c.697C>T c.1565C>T c.4025C>T (p.Pro1342Leu) c.241C>T c.4205C>T (p.Pro1402Leu) c.3872C>T (p.Pro1291Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117664840C>A | CA457230554 | CFTR | c.*325C>A (n.*325C>A) c.*3830C>A (n.*3830C>A) c.3933C>A (p.Pro1311=) c.*329C>A (n.*329C>A) c.*769C>A (n.*769C>A) c.4116C>A (p.Pro1372=) c.*777C>A (n.*777C>A) c.*2491C>A (n.*2491C>A) c.4110C>A (p.Pro1370=) c.*3940C>A (n.*3940C>A) c.3690C>A (p.Pro1230=) n.2284C>A c.980C>A (n.980C>A) c.1903C>A (n.1903C>A) c.698C>A c.1566C>A c.4026C>A (p.Pro1342=) c.242C>A c.4206C>A (p.Pro1402=) c.3873C>A (p.Pro1291=) | |
7 | g.117664840C= | CA1737422194 | CFTR | c.*325C= (n.*325C=) c.*3830C= (n.*3830C=) c.3933C= (p.Pro1311=) c.*329C= (n.*329C=) c.*769C= (n.*769C=) c.4116C= (p.Pro1372=) c.*777C= (n.*777C=) c.*2491C= (n.*2491C=) c.4110C= (p.Pro1370=) c.*3940C= (n.*3940C=) c.3690C= (p.Pro1230=) n.2284C= c.980C= (n.980C=) c.1903C= (n.1903C=) c.698C= c.1566C= c.4026C= (p.Pro1342=) c.242C= c.4206C= (p.Pro1402=) c.3873C= (p.Pro1291=) | |
7 | g.117664840C>G | CA457230556 | CFTR | c.*325C>G (n.*325C>G) c.*3830C>G (n.*3830C>G) c.3933C>G (p.Pro1311=) c.*329C>G (n.*329C>G) c.*769C>G (n.*769C>G) c.4116C>G (p.Pro1372=) c.*777C>G (n.*777C>G) c.*2491C>G (n.*2491C>G) c.4110C>G (p.Pro1370=) c.*3940C>G (n.*3940C>G) c.3690C>G (p.Pro1230=) n.2284C>G c.980C>G (n.980C>G) c.1903C>G (n.1903C>G) c.698C>G c.1566C>G c.4026C>G (p.Pro1342=) c.242C>G c.4206C>G (p.Pro1402=) c.3873C>G (p.Pro1291=) | |
7 | g.117664840C>T | CA457230559 | CFTR | c.*325C>T (n.*325C>T) c.*3830C>T (n.*3830C>T) c.3933C>T (p.Pro1311=) c.*329C>T (n.*329C>T) c.*769C>T (n.*769C>T) c.4116C>T (p.Pro1372=) c.*777C>T (n.*777C>T) c.*2491C>T (n.*2491C>T) c.4110C>T (p.Pro1370=) c.*3940C>T (n.*3940C>T) c.3690C>T (p.Pro1230=) n.2284C>T c.980C>T (n.980C>T) c.1903C>T (n.1903C>T) c.698C>T c.1566C>T c.4026C>T (p.Pro1342=) c.242C>T c.4206C>T (p.Pro1402=) c.3873C>T (p.Pro1291=) | ClinVar dbSNP gnomAD v4 |
7 | g.117664841A>C | CA368982990 | CFTR | c.*326A>C (n.*326A>C) c.*3831A>C (n.*3831A>C) c.3934A>C (p.Ser1312Arg) c.*330A>C (n.*330A>C) c.*770A>C (n.*770A>C) c.4117A>C (p.Ser1373Arg) c.*778A>C (n.*778A>C) c.*2492A>C (n.*2492A>C) c.4111A>C (p.Ser1371Arg) c.*3941A>C (n.*3941A>C) c.3691A>C (p.Ser1231Arg) n.2285A>C c.981A>C (n.981A>C) c.1904A>C (n.1904A>C) c.699A>C c.1567A>C c.4027A>C (p.Ser1343Arg) c.243A>C c.4207A>C (p.Ser1403Arg) c.3874A>C (p.Ser1292Arg) | |
7 | g.117664841A>G | CA368982993 | CFTR | c.*326A>G (n.*326A>G) c.*3831A>G (n.*3831A>G) c.3934A>G (p.Ser1312Gly) c.*330A>G (n.*330A>G) c.*770A>G (n.*770A>G) c.4117A>G (p.Ser1373Gly) c.*778A>G (n.*778A>G) c.*2492A>G (n.*2492A>G) c.4111A>G (p.Ser1371Gly) c.*3941A>G (n.*3941A>G) c.3691A>G (p.Ser1231Gly) n.2285A>G c.981A>G (n.981A>G) c.1904A>G (n.1904A>G) c.699A>G c.1567A>G c.4027A>G (p.Ser1343Gly) c.243A>G c.4207A>G (p.Ser1403Gly) c.3874A>G (p.Ser1292Gly) | |
7 | g.117664841A>T | CA368982998 | CFTR | c.*326A>T (n.*326A>T) c.*3831A>T (n.*3831A>T) c.3934A>T (p.Ser1312Cys) c.*330A>T (n.*330A>T) c.*770A>T (n.*770A>T) c.4117A>T (p.Ser1373Cys) c.*778A>T (n.*778A>T) c.*2492A>T (n.*2492A>T) c.4111A>T (p.Ser1371Cys) c.*3941A>T (n.*3941A>T) c.3691A>T (p.Ser1231Cys) n.2285A>T c.981A>T (n.981A>T) c.1904A>T (n.1904A>T) c.699A>T c.1567A>T c.4027A>T (p.Ser1343Cys) c.243A>T c.4207A>T (p.Ser1403Cys) c.3874A>T (p.Ser1292Cys) | |
7 | g.117664841_117664842insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG | CA2547344215 | CFTR | c.*326_*327insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (n.*326_*327insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG) c.*3831_*3832insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (n.*3831_*3832insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG) c.3934_3935insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (p.Ser1312ThrfsTer46) c.*330_*331insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (n.*330_*331insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG) c.*770_*771insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (n.*770_*771insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG) c.4117_4118insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (p.Ser1373ThrfsTer46) c.*778_*779insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (n.*778_*779insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG) c.*2492_*2493insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (n.*2492_*2493insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG) c.4111_4112insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (p.Ser1371ThrfsTer46) c.*3941_*3942insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (n.*3941_*3942insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG) c.3691_3692insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (p.Ser1231ThrfsTer46) n.2285_2286insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG c.981_982insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (n.981_982insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG) c.1904_1905insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (n.1904_1905insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG) c.699_700insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG c.1567_1568insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG c.4027_4028insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (p.Ser1343ThrfsTer46) c.243_244insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG c.4207_4208insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (p.Ser1403ThrfsTer46) c.3874_3875insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (p.Ser1292ThrfsTer46) | |
7 | g.117664842G>A | CA368983014 | CFTR | c.*327G>A (n.*327G>A) c.*3832G>A (n.*3832G>A) c.3935G>A (p.Ser1312Asn) c.*331G>A (n.*331G>A) c.*771G>A (n.*771G>A) c.4118G>A (p.Ser1373Asn) c.*779G>A (n.*779G>A) c.*2493G>A (n.*2493G>A) c.4112G>A (p.Ser1371Asn) c.*3942G>A (n.*3942G>A) c.3692G>A (p.Ser1231Asn) n.2286G>A c.982G>A (n.982G>A) c.1905G>A (n.1905G>A) c.700G>A c.1568G>A c.4028G>A (p.Ser1343Asn) c.244G>A c.4208G>A (p.Ser1403Asn) c.3875G>A (p.Ser1292Asn) | |
7 | g.117664842G>C | CA368983011 | CFTR | c.*327G>C (n.*327G>C) c.*3832G>C (n.*3832G>C) c.3935G>C (p.Ser1312Thr) c.*331G>C (n.*331G>C) c.*771G>C (n.*771G>C) c.4118G>C (p.Ser1373Thr) c.*779G>C (n.*779G>C) c.*2493G>C (n.*2493G>C) c.4112G>C (p.Ser1371Thr) c.*3942G>C (n.*3942G>C) c.3692G>C (p.Ser1231Thr) n.2286G>C c.982G>C (n.982G>C) c.1905G>C (n.1905G>C) c.700G>C c.1568G>C c.4028G>C (p.Ser1343Thr) c.244G>C c.4208G>C (p.Ser1403Thr) c.3875G>C (p.Ser1292Thr) | |
7 | g.117664842G= | CA1737422202 | CFTR | c.*327G= (n.*327G=) c.*3832G= (n.*3832G=) c.3935G= (p.Ser1312=) c.*331G= (n.*331G=) c.*771G= (n.*771G=) c.4118G= (p.Ser1373=) c.*779G= (n.*779G=) c.*2493G= (n.*2493G=) c.4112G= (p.Ser1371=) c.*3942G= (n.*3942G=) c.3692G= (p.Ser1231=) n.2286G= c.982G= (n.982G=) c.1905G= (n.1905G=) c.700G= c.1568G= c.4028G= (p.Ser1343=) c.244G= c.4208G= (p.Ser1403=) c.3875G= (p.Ser1292=) | |
7 | g.117664842G>T | CA231021 | CFTR | c.*327G>T (n.*327G>T) c.*3832G>T (n.*3832G>T) c.3935G>T (p.Ser1312Ile) c.*331G>T (n.*331G>T) c.*771G>T (n.*771G>T) c.4118G>T (p.Ser1373Ile) c.*779G>T (n.*779G>T) c.*2493G>T (n.*2493G>T) c.4112G>T (p.Ser1371Ile) c.*3942G>T (n.*3942G>T) c.3692G>T (p.Ser1231Ile) n.2286G>T c.982G>T (n.982G>T) c.1905G>T (n.1905G>T) c.700G>T c.1568G>T c.4028G>T (p.Ser1343Ile) c.244G>T c.4208G>T (p.Ser1403Ile) c.3875G>T (p.Ser1292Ile) | ClinVar dbSNP |
7 | g.117664843T>A | CA368983017 | CFTR | c.*328T>A (n.*328T>A) c.*3833T>A (n.*3833T>A) c.3936T>A (p.Ser1312Arg) c.*332T>A (n.*332T>A) c.*772T>A (n.*772T>A) c.4119T>A (p.Ser1373Arg) c.*780T>A (n.*780T>A) c.*2494T>A (n.*2494T>A) c.4113T>A (p.Ser1371Arg) c.*3943T>A (n.*3943T>A) c.3693T>A (p.Ser1231Arg) n.2287T>A c.983T>A (n.983T>A) c.1906T>A (n.1906T>A) c.701T>A c.1569T>A c.4029T>A (p.Ser1343Arg) c.245T>A c.4209T>A (p.Ser1403Arg) c.3876T>A (p.Ser1292Arg) | gnomAD v4 |
7 | g.117664843T>C | CA457230572 | CFTR | c.*328T>C (n.*328T>C) c.*3833T>C (n.*3833T>C) c.3936T>C (p.Ser1312=) c.*332T>C (n.*332T>C) c.*772T>C (n.*772T>C) c.4119T>C (p.Ser1373=) c.*780T>C (n.*780T>C) c.*2494T>C (n.*2494T>C) c.4113T>C (p.Ser1371=) c.*3943T>C (n.*3943T>C) c.3693T>C (p.Ser1231=) n.2287T>C c.983T>C (n.983T>C) c.1906T>C (n.1906T>C) c.701T>C c.1569T>C c.4029T>C (p.Ser1343=) c.245T>C c.4209T>C (p.Ser1403=) c.3876T>C (p.Ser1292=) | |
7 | g.117664843T>G | CA368983022 | CFTR | c.*328T>G (n.*328T>G) c.*3833T>G (n.*3833T>G) c.3936T>G (p.Ser1312Arg) c.*332T>G (n.*332T>G) c.*772T>G (n.*772T>G) c.4119T>G (p.Ser1373Arg) c.*780T>G (n.*780T>G) c.*2494T>G (n.*2494T>G) c.4113T>G (p.Ser1371Arg) c.*3943T>G (n.*3943T>G) c.3693T>G (p.Ser1231Arg) n.2287T>G c.983T>G (n.983T>G) c.1906T>G (n.1906T>G) c.701T>G c.1569T>G c.4029T>G (p.Ser1343Arg) c.245T>G c.4209T>G (p.Ser1403Arg) c.3876T>G (p.Ser1292Arg) | gnomAD v4 |
7 | g.117664844G>A | CA368983027 | CFTR | c.*329G>A (n.*329G>A) c.*3834G>A (n.*3834G>A) c.3937G>A (p.Ala1313Thr) c.*333G>A (n.*333G>A) c.*773G>A (n.*773G>A) c.4120G>A (p.Ala1374Thr) c.*781G>A (n.*781G>A) c.*2495G>A (n.*2495G>A) c.4114G>A (p.Ala1372Thr) c.*3944G>A (n.*3944G>A) c.3694G>A (p.Ala1232Thr) n.2288G>A c.984G>A (n.984G>A) c.1907G>A (n.1907G>A) c.702G>A c.1570G>A c.4030G>A (p.Ala1344Thr) c.246G>A c.4210G>A (p.Ala1404Thr) c.3877G>A (p.Ala1293Thr) | |
7 | g.117664844G>C | CA368983031 | CFTR | c.*329G>C (n.*329G>C) c.*3834G>C (n.*3834G>C) c.3937G>C (p.Ala1313Pro) c.*333G>C (n.*333G>C) c.*773G>C (n.*773G>C) c.4120G>C (p.Ala1374Pro) c.*781G>C (n.*781G>C) c.*2495G>C (n.*2495G>C) c.4114G>C (p.Ala1372Pro) c.*3944G>C (n.*3944G>C) c.3694G>C (p.Ala1232Pro) n.2288G>C c.984G>C (n.984G>C) c.1907G>C (n.1907G>C) c.702G>C c.1570G>C c.4030G>C (p.Ala1344Pro) c.246G>C c.4210G>C (p.Ala1404Pro) c.3877G>C (p.Ala1293Pro) | |
7 | g.117664844G>T | CA368983034 | CFTR | c.*329G>T (n.*329G>T) c.*3834G>T (n.*3834G>T) c.3937G>T (p.Ala1313Ser) c.*333G>T (n.*333G>T) c.*773G>T (n.*773G>T) c.4120G>T (p.Ala1374Ser) c.*781G>T (n.*781G>T) c.*2495G>T (n.*2495G>T) c.4114G>T (p.Ala1372Ser) c.*3944G>T (n.*3944G>T) c.3694G>T (p.Ala1232Ser) n.2288G>T c.984G>T (n.984G>T) c.1907G>T (n.1907G>T) c.702G>T c.1570G>T c.4030G>T (p.Ala1344Ser) c.246G>T c.4210G>T (p.Ala1404Ser) c.3877G>T (p.Ala1293Ser) | |
7 | g.117664845C>A | CA368983039 | CFTR | c.*330C>A (n.*330C>A) c.*3835C>A (n.*3835C>A) c.3938C>A (p.Ala1313Asp) c.*334C>A (n.*334C>A) c.*774C>A (n.*774C>A) c.4121C>A (p.Ala1374Asp) c.*782C>A (n.*782C>A) c.*2496C>A (n.*2496C>A) c.4115C>A (p.Ala1372Asp) c.*3945C>A (n.*3945C>A) c.3695C>A (p.Ala1232Asp) n.2289C>A c.985C>A (n.985C>A) c.1908C>A (n.1908C>A) c.703C>A c.1571C>A c.4031C>A (p.Ala1344Asp) c.247C>A c.4211C>A (p.Ala1404Asp) c.3878C>A (p.Ala1293Asp) | |
7 | g.117664845C= | CA1737422211 | CFTR | c.*330C= (n.*330C=) c.*3835C= (n.*3835C=) c.3938C= (p.Ala1313=) c.*334C= (n.*334C=) c.*774C= (n.*774C=) c.4121C= (p.Ala1374=) c.*782C= (n.*782C=) c.*2496C= (n.*2496C=) c.4115C= (p.Ala1372=) c.*3945C= (n.*3945C=) c.3695C= (p.Ala1232=) n.2289C= c.985C= (n.985C=) c.1908C= (n.1908C=) c.703C= c.1571C= c.4031C= (p.Ala1344=) c.247C= c.4211C= (p.Ala1404=) c.3878C= (p.Ala1293=) | |
7 | g.117664845C>G | CA164960299 | CFTR | c.*330C>G (n.*330C>G) c.*3835C>G (n.*3835C>G) c.3938C>G (p.Ala1313Gly) c.*334C>G (n.*334C>G) c.*774C>G (n.*774C>G) c.4121C>G (p.Ala1374Gly) c.*782C>G (n.*782C>G) c.*2496C>G (n.*2496C>G) c.4115C>G (p.Ala1372Gly) c.*3945C>G (n.*3945C>G) c.3695C>G (p.Ala1232Gly) n.2289C>G c.985C>G (n.985C>G) c.1908C>G (n.1908C>G) c.703C>G c.1571C>G c.4031C>G (p.Ala1344Gly) c.247C>G c.4211C>G (p.Ala1404Gly) c.3878C>G (p.Ala1293Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117664845C>T | CA368983044 | CFTR | c.*330C>T (n.*330C>T) c.*3835C>T (n.*3835C>T) c.3938C>T (p.Ala1313Val) c.*334C>T (n.*334C>T) c.*774C>T (n.*774C>T) c.4121C>T (p.Ala1374Val) c.*782C>T (n.*782C>T) c.*2496C>T (n.*2496C>T) c.4115C>T (p.Ala1372Val) c.*3945C>T (n.*3945C>T) c.3695C>T (p.Ala1232Val) n.2289C>T c.985C>T (n.985C>T) c.1908C>T (n.1908C>T) c.703C>T c.1571C>T c.4031C>T (p.Ala1344Val) c.247C>T c.4211C>T (p.Ala1404Val) c.3878C>T (p.Ala1293Val) | gnomAD v4 COSMIC |
7 | g.117664846T>A | CA457230588 | CFTR | c.*331T>A (n.*331T>A) c.*3836T>A (n.*3836T>A) c.3939T>A (p.Ala1313=) c.*335T>A (n.*335T>A) c.*775T>A (n.*775T>A) c.4122T>A (p.Ala1374=) c.*783T>A (n.*783T>A) c.*2497T>A (n.*2497T>A) c.4116T>A (p.Ala1372=) c.*3946T>A (n.*3946T>A) c.3696T>A (p.Ala1232=) n.2290T>A c.986T>A (n.986T>A) c.1909T>A (n.1909T>A) c.704T>A c.1572T>A c.4032T>A (p.Ala1344=) c.248T>A c.4212T>A (p.Ala1404=) c.3879T>A (p.Ala1293=) | |
7 | g.117664846T>C | CA457230582 | CFTR | c.*331T>C (n.*331T>C) c.*3836T>C (n.*3836T>C) c.3939T>C (p.Ala1313=) c.*335T>C (n.*335T>C) c.*775T>C (n.*775T>C) c.4122T>C (p.Ala1374=) c.*783T>C (n.*783T>C) c.*2497T>C (n.*2497T>C) c.4116T>C (p.Ala1372=) c.*3946T>C (n.*3946T>C) c.3696T>C (p.Ala1232=) n.2290T>C c.986T>C (n.986T>C) c.1909T>C (n.1909T>C) c.704T>C c.1572T>C c.4032T>C (p.Ala1344=) c.248T>C c.4212T>C (p.Ala1404=) c.3879T>C (p.Ala1293=) |