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.117665515_117665517delinsTTC | CA1737422887 | CFTR | c.*402_*404delinsTTC (n.*402_*404delinsTTC) c.*3907_*3909delinsTTC (n.*3907_*3909delinsTTC) c.4010_4012delinsTTC (p.Ile1337=) c.*406_*408delinsTTC (n.*406_*408delinsTTC) c.*846_*848delinsTTC (n.*846_*848delinsTTC) c.4193_4195delinsTTC (p.Ile1398=) c.*854_*856delinsTTC (n.*854_*856delinsTTC) c.*2568_*2570delinsTTC (n.*2568_*2570delinsTTC) c.4187_4189delinsTTC (p.Ile1396=) c.*4017_*4019delinsTTC (n.*4017_*4019delinsTTC) c.3767_3769delinsTTC (p.Ile1256=) n.2361_2363delinsTTC c.1057_1059delinsTTC (n.1057_1059delinsTTC) c.1980_1982delinsTTC (n.1980_1982delinsTTC) c.775_777delinsTTC c.1643_1645delinsTTC c.4103_4105delinsTTC (p.Ile1368=) c.319_321delinsTTC c.4283_4285delinsTTC (p.Ile1428=) c.3950_3952delinsTTC (p.Ile1317=) | |
7 | g.117665516T>A | CA457230835 | CFTR | c.*403T>A (n.*403T>A) c.*3908T>A (n.*3908T>A) c.4011T>A (p.Ile1337=) c.*407T>A (n.*407T>A) c.*847T>A (n.*847T>A) c.4194T>A (p.Ile1398=) c.*855T>A (n.*855T>A) c.*2569T>A (n.*2569T>A) c.4188T>A (p.Ile1396=) c.*4018T>A (n.*4018T>A) c.3768T>A (p.Ile1256=) n.2362T>A c.1058T>A (n.1058T>A) c.1981T>A (n.1981T>A) c.776T>A c.1644T>A c.4104T>A (p.Ile1368=) c.320T>A c.4284T>A (p.Ile1428=) c.3951T>A (p.Ile1317=) | |
7 | g.117665516T>C | CA457230836 | CFTR | c.*403T>C (n.*403T>C) c.*3908T>C (n.*3908T>C) c.4011T>C (p.Ile1337=) c.*407T>C (n.*407T>C) c.*847T>C (n.*847T>C) c.4194T>C (p.Ile1398=) c.*855T>C (n.*855T>C) c.*2569T>C (n.*2569T>C) c.4188T>C (p.Ile1396=) c.*4018T>C (n.*4018T>C) c.3768T>C (p.Ile1256=) n.2362T>C c.1058T>C (n.1058T>C) c.1981T>C (n.1981T>C) c.776T>C c.1644T>C c.4104T>C (p.Ile1368=) c.320T>C c.4284T>C (p.Ile1428=) c.3951T>C (p.Ile1317=) | ClinVar dbSNP gnomAD v4 |
7 | g.117665516T>G | CA368983610 | CFTR | c.*403T>G (n.*403T>G) c.*3908T>G (n.*3908T>G) c.4011T>G (p.Ile1337Met) c.*407T>G (n.*407T>G) c.*847T>G (n.*847T>G) c.4194T>G (p.Ile1398Met) c.*855T>G (n.*855T>G) c.*2569T>G (n.*2569T>G) c.4188T>G (p.Ile1396Met) c.*4018T>G (n.*4018T>G) c.3768T>G (p.Ile1256Met) n.2362T>G c.1058T>G (n.1058T>G) c.1981T>G (n.1981T>G) c.776T>G c.1644T>G c.4104T>G (p.Ile1368Met) c.320T>G c.4284T>G (p.Ile1428Met) c.3951T>G (p.Ile1317Met) | gnomAD v4 |
7 | g.117665519_117665520del | CA327443 | CFTR | c.*406_*407del (n.*406_*407del) c.*3911_*3912del (n.*3911_*3912del) c.4014_4015del (p.Cys1339Ter) c.*410_*411del (n.*410_*411del) c.*850_*851del (n.*850_*851del) c.4197_4198del (p.Cys1400Ter) c.*858_*859del (n.*858_*859del) c.*2572_*2573del (n.*2572_*2573del) c.4191_4192del (p.Cys1398Ter) c.*4021_*4022del (n.*4021_*4022del) c.3771_3772del (p.Cys1258Ter) n.2365_2366del c.1061_1062del (n.1061_1062del) c.1984_1985del (n.1984_1985del) c.779_780del c.1647_1648del c.4107_4108del (p.Cys1370Ter) c.323_324del c.4287_4288del (p.Cys1430Ter) c.3954_3955del (p.Cys1319Ter) | dbSNP gnomAD v4 |
7 | g.117665517C>A | CA368983617 | CFTR | c.*404C>A (n.*404C>A) c.*3909C>A (n.*3909C>A) c.4012C>A (p.Leu1338Ile) c.*408C>A (n.*408C>A) c.*848C>A (n.*848C>A) c.4195C>A (p.Leu1399Ile) c.*856C>A (n.*856C>A) c.*2570C>A (n.*2570C>A) c.4189C>A (p.Leu1397Ile) c.*4019C>A (n.*4019C>A) c.3769C>A (p.Leu1257Ile) n.2363C>A c.1059C>A (n.1059C>A) c.1982C>A (n.1982C>A) c.777C>A c.1645C>A c.4105C>A (p.Leu1369Ile) c.321C>A c.4285C>A (p.Leu1429Ile) c.3952C>A (p.Leu1318Ile) | ClinVar |
7 | g.117665517C= | CA1737422896 | CFTR | c.*404C= (n.*404C=) c.*3909C= (n.*3909C=) c.4012C= (p.Leu1338=) c.*408C= (n.*408C=) c.*848C= (n.*848C=) c.4195C= (p.Leu1399=) c.*856C= (n.*856C=) c.*2570C= (n.*2570C=) c.4189C= (p.Leu1397=) c.*4019C= (n.*4019C=) c.3769C= (p.Leu1257=) n.2363C= c.1059C= (n.1059C=) c.1982C= (n.1982C=) c.777C= c.1645C= c.4105C= (p.Leu1369=) c.321C= c.4285C= (p.Leu1429=) c.3952C= (p.Leu1318=) | |
7 | g.117665517C>G | CA368983619 | CFTR | c.*404C>G (n.*404C>G) c.*3909C>G (n.*3909C>G) c.4012C>G (p.Leu1338Val) c.*408C>G (n.*408C>G) c.*848C>G (n.*848C>G) c.4195C>G (p.Leu1399Val) c.*856C>G (n.*856C>G) c.*2570C>G (n.*2570C>G) c.4189C>G (p.Leu1397Val) c.*4019C>G (n.*4019C>G) c.3769C>G (p.Leu1257Val) n.2363C>G c.1059C>G (n.1059C>G) c.1982C>G (n.1982C>G) c.777C>G c.1645C>G c.4105C>G (p.Leu1369Val) c.321C>G c.4285C>G (p.Leu1429Val) c.3952C>G (p.Leu1318Val) | ClinVar dbSNP |
7 | g.117665517C>T | CA368983621 | CFTR | c.*404C>T (n.*404C>T) c.*3909C>T (n.*3909C>T) c.4012C>T (p.Leu1338Phe) c.*408C>T (n.*408C>T) c.*848C>T (n.*848C>T) c.4195C>T (p.Leu1399Phe) c.*856C>T (n.*856C>T) c.*2570C>T (n.*2570C>T) c.4189C>T (p.Leu1397Phe) c.*4019C>T (n.*4019C>T) c.3769C>T (p.Leu1257Phe) n.2363C>T c.1059C>T (n.1059C>T) c.1982C>T (n.1982C>T) c.777C>T c.1645C>T c.4105C>T (p.Leu1369Phe) c.321C>T c.4285C>T (p.Leu1429Phe) c.3952C>T (p.Leu1318Phe) | |
7 | g.117665518T>A | CA368983628 | CFTR | c.*405T>A (n.*405T>A) c.*3910T>A (n.*3910T>A) c.4013T>A (p.Leu1338His) c.*409T>A (n.*409T>A) c.*849T>A (n.*849T>A) c.4196T>A (p.Leu1399His) c.*857T>A (n.*857T>A) c.*2571T>A (n.*2571T>A) c.4190T>A (p.Leu1397His) c.*4020T>A (n.*4020T>A) c.3770T>A (p.Leu1257His) n.2364T>A c.1060T>A (n.1060T>A) c.1983T>A (n.1983T>A) c.778T>A c.1646T>A c.4106T>A (p.Leu1369His) c.322T>A c.4286T>A (p.Leu1429His) c.3953T>A (p.Leu1318His) | |
7 | g.117665518T>C | CA368983627 | CFTR | c.*405T>C (n.*405T>C) c.*3910T>C (n.*3910T>C) c.4013T>C (p.Leu1338Pro) c.*409T>C (n.*409T>C) c.*849T>C (n.*849T>C) c.4196T>C (p.Leu1399Pro) c.*857T>C (n.*857T>C) c.*2571T>C (n.*2571T>C) c.4190T>C (p.Leu1397Pro) c.*4020T>C (n.*4020T>C) c.3770T>C (p.Leu1257Pro) n.2364T>C c.1060T>C (n.1060T>C) c.1983T>C (n.1983T>C) c.778T>C c.1646T>C c.4106T>C (p.Leu1369Pro) c.322T>C c.4286T>C (p.Leu1429Pro) c.3953T>C (p.Leu1318Pro) | |
7 | g.117665518T>G | CA368983625 | CFTR | c.*405T>G (n.*405T>G) c.*3910T>G (n.*3910T>G) c.4013T>G (p.Leu1338Arg) c.*409T>G (n.*409T>G) c.*849T>G (n.*849T>G) c.4196T>G (p.Leu1399Arg) c.*857T>G (n.*857T>G) c.*2571T>G (n.*2571T>G) c.4190T>G (p.Leu1397Arg) c.*4020T>G (n.*4020T>G) c.3770T>G (p.Leu1257Arg) n.2364T>G c.1060T>G (n.1060T>G) c.1983T>G (n.1983T>G) c.778T>G c.1646T>G c.4106T>G (p.Leu1369Arg) c.322T>G c.4286T>G (p.Leu1429Arg) c.3953T>G (p.Leu1318Arg) | |
7 | g.117665519C>A | CA457230838 | CFTR | c.*406C>A (n.*406C>A) c.*3911C>A (n.*3911C>A) c.4014C>A (p.Leu1338=) c.*410C>A (n.*410C>A) c.*850C>A (n.*850C>A) c.4197C>A (p.Leu1399=) c.*858C>A (n.*858C>A) c.*2572C>A (n.*2572C>A) c.4191C>A (p.Leu1397=) c.*4021C>A (n.*4021C>A) c.3771C>A (p.Leu1257=) n.2365C>A c.1061C>A (n.1061C>A) c.1984C>A (n.1984C>A) c.779C>A c.1647C>A c.4107C>A (p.Leu1369=) c.323C>A c.4287C>A (p.Leu1429=) c.3954C>A (p.Leu1318=) | |
7 | g.117665519C= | CA1737422905 | CFTR | c.*406C= (n.*406C=) c.*3911C= (n.*3911C=) c.4014C= (p.Leu1338=) c.*410C= (n.*410C=) c.*850C= (n.*850C=) c.4197C= (p.Leu1399=) c.*858C= (n.*858C=) c.*2572C= (n.*2572C=) c.4191C= (p.Leu1397=) c.*4021C= (n.*4021C=) c.3771C= (p.Leu1257=) n.2365C= c.1061C= (n.1061C=) c.1984C= (n.1984C=) c.779C= c.1647C= c.4107C= (p.Leu1369=) c.323C= c.4287C= (p.Leu1429=) c.3954C= (p.Leu1318=) | |
7 | g.117665519C>G | CA4451659 | CFTR | c.*406C>G (n.*406C>G) c.*3911C>G (n.*3911C>G) c.4014C>G (p.Leu1338=) c.*410C>G (n.*410C>G) c.*850C>G (n.*850C>G) c.4197C>G (p.Leu1399=) c.*858C>G (n.*858C>G) c.*2572C>G (n.*2572C>G) c.4191C>G (p.Leu1397=) c.*4021C>G (n.*4021C>G) c.3771C>G (p.Leu1257=) n.2365C>G c.1061C>G (n.1061C>G) c.1984C>G (n.1984C>G) c.779C>G c.1647C>G c.4107C>G (p.Leu1369=) c.323C>G c.4287C>G (p.Leu1429=) c.3954C>G (p.Leu1318=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117665519C>T | CA4451660 | CFTR | c.*406C>T (n.*406C>T) c.*3911C>T (n.*3911C>T) c.4014C>T (p.Leu1338=) c.*410C>T (n.*410C>T) c.*850C>T (n.*850C>T) c.4197C>T (p.Leu1399=) c.*858C>T (n.*858C>T) c.*2572C>T (n.*2572C>T) c.4191C>T (p.Leu1397=) c.*4021C>T (n.*4021C>T) c.3771C>T (p.Leu1257=) n.2365C>T c.1061C>T (n.1061C>T) c.1984C>T (n.1984C>T) c.779C>T c.1647C>T c.4107C>T (p.Leu1369=) c.323C>T c.4287C>T (p.Leu1429=) c.3954C>T (p.Leu1318=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.117665519_117665521delinsCTG | CA1737422911 | CFTR | c.*406_*408delinsCTG (n.*406_*408delinsCTG) c.*3911_*3913delinsCTG (n.*3911_*3913delinsCTG) c.4014_4016delinsCTG (p.Leu1338=) c.*410_*412delinsCTG (n.*410_*412delinsCTG) c.*850_*852delinsCTG (n.*850_*852delinsCTG) c.4197_4199delinsCTG (p.Leu1399=) c.*858_*860delinsCTG (n.*858_*860delinsCTG) c.*2572_*2574delinsCTG (n.*2572_*2574delinsCTG) c.4191_4193delinsCTG (p.Leu1397=) c.*4021_*4023delinsCTG (n.*4021_*4023delinsCTG) c.3771_3773delinsCTG (p.Leu1257=) n.2365_2367delinsCTG c.1061_1063delinsCTG (n.1061_1063delinsCTG) c.1984_1986delinsCTG (n.1984_1986delinsCTG) c.779_781delinsCTG c.1647_1649delinsCTG c.4107_4109delinsCTG (p.Leu1369=) c.323_325delinsCTG c.4287_4289delinsCTG (p.Leu1429=) c.3954_3956delinsCTG (p.Leu1318=) | |
7 | g.117665520T>A | CA368983633 | CFTR | c.*407T>A (n.*407T>A) c.*3912T>A (n.*3912T>A) c.4015T>A (p.Cys1339Ser) c.*411T>A (n.*411T>A) c.*851T>A (n.*851T>A) c.4198T>A (p.Cys1400Ser) c.*859T>A (n.*859T>A) c.*2573T>A (n.*2573T>A) c.4192T>A (p.Cys1398Ser) c.*4022T>A (n.*4022T>A) c.3772T>A (p.Cys1258Ser) n.2366T>A c.1062T>A (n.1062T>A) c.1985T>A (n.1985T>A) c.780T>A c.1648T>A c.4108T>A (p.Cys1370Ser) c.324T>A c.4288T>A (p.Cys1430Ser) c.3955T>A (p.Cys1319Ser) | |
7 | g.117665520T>C | CA368983635 | CFTR | c.*407T>C (n.*407T>C) c.*3912T>C (n.*3912T>C) c.4015T>C (p.Cys1339Arg) c.*411T>C (n.*411T>C) c.*851T>C (n.*851T>C) c.4198T>C (p.Cys1400Arg) c.*859T>C (n.*859T>C) c.*2573T>C (n.*2573T>C) c.4192T>C (p.Cys1398Arg) c.*4022T>C (n.*4022T>C) c.3772T>C (p.Cys1258Arg) n.2366T>C c.1062T>C (n.1062T>C) c.1985T>C (n.1985T>C) c.780T>C c.1648T>C c.4108T>C (p.Cys1370Arg) c.324T>C c.4288T>C (p.Cys1430Arg) c.3955T>C (p.Cys1319Arg) | dbSNP gnomAD v4 |
7 | g.117665520T>G | CA368983638 | CFTR | c.*407T>G (n.*407T>G) c.*3912T>G (n.*3912T>G) c.4015T>G (p.Cys1339Gly) c.*411T>G (n.*411T>G) c.*851T>G (n.*851T>G) c.4198T>G (p.Cys1400Gly) c.*859T>G (n.*859T>G) c.*2573T>G (n.*2573T>G) c.4192T>G (p.Cys1398Gly) c.*4022T>G (n.*4022T>G) c.3772T>G (p.Cys1258Gly) n.2366T>G c.1062T>G (n.1062T>G) c.1985T>G (n.1985T>G) c.780T>G c.1648T>G c.4108T>G (p.Cys1370Gly) c.324T>G c.4288T>G (p.Cys1430Gly) c.3955T>G (p.Cys1319Gly) | |
7 | g.117665520T= | CA1737422920 | CFTR | c.*407T= (n.*407T=) c.*3912T= (n.*3912T=) c.4015T= (p.Cys1339=) c.*411T= (n.*411T=) c.*851T= (n.*851T=) c.4198T= (p.Cys1400=) c.*859T= (n.*859T=) c.*2573T= (n.*2573T=) c.4192T= (p.Cys1398=) c.*4022T= (n.*4022T=) c.3772T= (p.Cys1258=) n.2366T= c.1062T= (n.1062T=) c.1985T= (n.1985T=) c.780T= c.1648T= c.4108T= (p.Cys1370=) c.324T= c.4288T= (p.Cys1430=) c.3955T= (p.Cys1319=) | |
7 | g.117665520_117665521delinsTG | CA1737422919 | CFTR | c.*407_*408delinsTG (n.*407_*408delinsTG) c.*3912_*3913delinsTG (n.*3912_*3913delinsTG) c.4015_4016delinsTG (p.Cys1339=) c.*411_*412delinsTG (n.*411_*412delinsTG) c.*851_*852delinsTG (n.*851_*852delinsTG) c.4198_4199delinsTG (p.Cys1400=) c.*859_*860delinsTG (n.*859_*860delinsTG) c.*2573_*2574delinsTG (n.*2573_*2574delinsTG) c.4192_4193delinsTG (p.Cys1398=) c.*4022_*4023delinsTG (n.*4022_*4023delinsTG) c.3772_3773delinsTG (p.Cys1258=) n.2366_2367delinsTG c.1062_1063delinsTG (n.1062_1063delinsTG) c.1985_1986delinsTG (n.1985_1986delinsTG) c.780_781delinsTG c.1648_1649delinsTG c.4108_4109delinsTG (p.Cys1370=) c.324_325delinsTG c.4288_4289delinsTG (p.Cys1430=) c.3955_3956delinsTG (p.Cys1319=) | |
7 | g.117665522_117665523del | CA327446 | CFTR | c.*409_*410del (n.*409_*410del) c.*3914_*3915del (n.*3914_*3915del) c.4017_4018del (p.Cys1339Ter) c.*413_*414del (n.*413_*414del) c.*853_*854del (n.*853_*854del) c.4200_4201del (p.Cys1400Ter) c.*861_*862del (n.*861_*862del) c.*2575_*2576del (n.*2575_*2576del) c.4194_4195del (p.Cys1398Ter) c.*4024_*4025del (n.*4024_*4025del) c.3774_3775del (p.Cys1258Ter) n.2368_2369del c.1064_1065del (n.1064_1065del) c.1987_1988del (n.1987_1988del) c.782_783del c.1650_1651del c.4110_4111del (p.Cys1370Ter) c.326_327del c.4290_4291del (p.Cys1430Ter) c.3957_3958del (p.Cys1319Ter) | dbSNP |
7 | g.117665521del | CA658821705 | CFTR | c.*408del (n.*408del) c.*3913del (n.*3913del) c.4016del (p.Cys1339LeufsTer5) c.*412del (n.*412del) c.*852del (n.*852del) c.4199del (p.Cys1400LeufsTer5) c.*860del (n.*860del) c.*2574del (n.*2574del) c.4193del (p.Cys1398LeufsTer5) c.*4023del (n.*4023del) c.3773del (p.Cys1258LeufsTer5) n.2367del c.1063del (n.1063del) c.1986del (n.1986del) c.781del c.1649del c.4109del (p.Cys1370LeufsTer5) c.325del c.4289del (p.Cys1430LeufsTer5) c.3956del (p.Cys1319LeufsTer5) | ClinVar dbSNP |
7 | g.117665521G>A | CA368983641 | CFTR | c.*408G>A (n.*408G>A) c.*3913G>A (n.*3913G>A) c.4016G>A (p.Cys1339Tyr) c.*412G>A (n.*412G>A) c.*852G>A (n.*852G>A) c.4199G>A (p.Cys1400Tyr) c.*860G>A (n.*860G>A) c.*2574G>A (n.*2574G>A) c.4193G>A (p.Cys1398Tyr) c.*4023G>A (n.*4023G>A) c.3773G>A (p.Cys1258Tyr) n.2367G>A c.1063G>A (n.1063G>A) c.1986G>A (n.1986G>A) c.781G>A c.1649G>A c.4109G>A (p.Cys1370Tyr) c.325G>A c.4289G>A (p.Cys1430Tyr) c.3956G>A (p.Cys1319Tyr) | |
7 | g.117665521G>C | CA368983646 | CFTR | c.*408G>C (n.*408G>C) c.*3913G>C (n.*3913G>C) c.4016G>C (p.Cys1339Ser) c.*412G>C (n.*412G>C) c.*852G>C (n.*852G>C) c.4199G>C (p.Cys1400Ser) c.*860G>C (n.*860G>C) c.*2574G>C (n.*2574G>C) c.4193G>C (p.Cys1398Ser) c.*4023G>C (n.*4023G>C) c.3773G>C (p.Cys1258Ser) n.2367G>C c.1063G>C (n.1063G>C) c.1986G>C (n.1986G>C) c.781G>C c.1649G>C c.4109G>C (p.Cys1370Ser) c.325G>C c.4289G>C (p.Cys1430Ser) c.3956G>C (p.Cys1319Ser) | |
7 | g.117665521G>T | CA368983644 | CFTR | c.*408G>T (n.*408G>T) c.*3913G>T (n.*3913G>T) c.4016G>T (p.Cys1339Phe) c.*412G>T (n.*412G>T) c.*852G>T (n.*852G>T) c.4199G>T (p.Cys1400Phe) c.*860G>T (n.*860G>T) c.*2574G>T (n.*2574G>T) c.4193G>T (p.Cys1398Phe) c.*4023G>T (n.*4023G>T) c.3773G>T (p.Cys1258Phe) n.2367G>T c.1063G>T (n.1063G>T) c.1986G>T (n.1986G>T) c.781G>T c.1649G>T c.4109G>T (p.Cys1370Phe) c.325G>T c.4289G>T (p.Cys1430Phe) c.3956G>T (p.Cys1319Phe) | |
7 | g.117665522T>A | CA368983648 | CFTR | c.*409T>A (n.*409T>A) c.*3914T>A (n.*3914T>A) c.4017T>A (p.Cys1339Ter) c.*413T>A (n.*413T>A) c.*853T>A (n.*853T>A) c.4200T>A (p.Cys1400Ter) c.*861T>A (n.*861T>A) c.*2575T>A (n.*2575T>A) c.4194T>A (p.Cys1398Ter) c.*4024T>A (n.*4024T>A) c.3774T>A (p.Cys1258Ter) n.2368T>A c.1064T>A (n.1064T>A) c.1987T>A (n.1987T>A) c.782T>A c.1650T>A c.4110T>A (p.Cys1370Ter) c.326T>A c.4290T>A (p.Cys1430Ter) c.3957T>A (p.Cys1319Ter) | |
7 | g.117665522T>C | CA457230884 | CFTR | c.*409T>C (n.*409T>C) c.*3914T>C (n.*3914T>C) c.4017T>C (p.Cys1339=) c.*413T>C (n.*413T>C) c.*853T>C (n.*853T>C) c.4200T>C (p.Cys1400=) c.*861T>C (n.*861T>C) c.*2575T>C (n.*2575T>C) c.4194T>C (p.Cys1398=) c.*4024T>C (n.*4024T>C) c.3774T>C (p.Cys1258=) n.2368T>C c.1064T>C (n.1064T>C) c.1987T>C (n.1987T>C) c.782T>C c.1650T>C c.4110T>C (p.Cys1370=) c.326T>C c.4290T>C (p.Cys1430=) c.3957T>C (p.Cys1319=) | |
7 | g.117665522T>G | CA368983652 | CFTR | c.*409T>G (n.*409T>G) c.*3914T>G (n.*3914T>G) c.4017T>G (p.Cys1339Trp) c.*413T>G (n.*413T>G) c.*853T>G (n.*853T>G) c.4200T>G (p.Cys1400Trp) c.*861T>G (n.*861T>G) c.*2575T>G (n.*2575T>G) c.4194T>G (p.Cys1398Trp) c.*4024T>G (n.*4024T>G) c.3774T>G (p.Cys1258Trp) n.2368T>G c.1064T>G (n.1064T>G) c.1987T>G (n.1987T>G) c.782T>G c.1650T>G c.4110T>G (p.Cys1370Trp) c.326T>G c.4290T>G (p.Cys1430Trp) c.3957T>G (p.Cys1319Trp) | |
7 | g.117665523G>A | CA327447 | CFTR | c.*410G>A (n.*410G>A) c.*3915G>A (n.*3915G>A) c.4018G>A (p.Glu1340Lys) c.*414G>A (n.*414G>A) c.*854G>A (n.*854G>A) c.4201G>A (p.Glu1401Lys) c.*862G>A (n.*862G>A) c.*2576G>A (n.*2576G>A) c.4195G>A (p.Glu1399Lys) c.*4025G>A (n.*4025G>A) c.3775G>A (p.Glu1259Lys) n.2369G>A c.1065G>A (n.1065G>A) c.1988G>A (n.1988G>A) c.783G>A c.1651G>A c.4111G>A (p.Glu1371Lys) c.327G>A c.4291G>A (p.Glu1431Lys) c.3958G>A (p.Glu1320Lys) | ClinVar dbSNP |
7 | g.117665523G>C | CA368983655 | CFTR | c.*410G>C (n.*410G>C) c.*3915G>C (n.*3915G>C) c.4018G>C (p.Glu1340Gln) c.*414G>C (n.*414G>C) c.*854G>C (n.*854G>C) c.4201G>C (p.Glu1401Gln) c.*862G>C (n.*862G>C) c.*2576G>C (n.*2576G>C) c.4195G>C (p.Glu1399Gln) c.*4025G>C (n.*4025G>C) c.3775G>C (p.Glu1259Gln) n.2369G>C c.1065G>C (n.1065G>C) c.1988G>C (n.1988G>C) c.783G>C c.1651G>C c.4111G>C (p.Glu1371Gln) c.327G>C c.4291G>C (p.Glu1431Gln) c.3958G>C (p.Glu1320Gln) | |
7 | g.117665523G= | CA1737422935 | CFTR | c.*410G= (n.*410G=) c.*3915G= (n.*3915G=) c.4018G= (p.Glu1340=) c.*414G= (n.*414G=) c.*854G= (n.*854G=) c.4201G= (p.Glu1401=) c.*862G= (n.*862G=) c.*2576G= (n.*2576G=) c.4195G= (p.Glu1399=) c.*4025G= (n.*4025G=) c.3775G= (p.Glu1259=) n.2369G= c.1065G= (n.1065G=) c.1988G= (n.1988G=) c.783G= c.1651G= c.4111G= (p.Glu1371=) c.327G= c.4291G= (p.Glu1431=) c.3958G= (p.Glu1320=) | |
7 | g.117665523G>T | CA327449 | CFTR | c.*410G>T (n.*410G>T) c.*3915G>T (n.*3915G>T) c.4018G>T (p.Glu1340Ter) c.*414G>T (n.*414G>T) c.*854G>T (n.*854G>T) c.4201G>T (p.Glu1401Ter) c.*862G>T (n.*862G>T) c.*2576G>T (n.*2576G>T) c.4195G>T (p.Glu1399Ter) c.*4025G>T (n.*4025G>T) c.3775G>T (p.Glu1259Ter) n.2369G>T c.1065G>T (n.1065G>T) c.1988G>T (n.1988G>T) c.783G>T c.1651G>T c.4111G>T (p.Glu1371Ter) c.327G>T c.4291G>T (p.Glu1431Ter) c.3958G>T (p.Glu1320Ter) | ClinVar dbSNP |
7 | g.117665524A= | CA1737422945 | CFTR | c.*411A= (n.*411A=) c.*3916A= (n.*3916A=) c.4019A= (p.Glu1340=) c.*415A= (n.*415A=) c.*855A= (n.*855A=) c.4202A= (p.Glu1401=) c.*863A= (n.*863A=) c.*2577A= (n.*2577A=) c.4196A= (p.Glu1399=) c.*4026A= (n.*4026A=) c.3776A= (p.Glu1259=) n.2370A= c.1066A= (n.1066A=) c.1989A= (n.1989A=) c.784A= c.1652A= c.4112A= (p.Glu1371=) c.328A= c.4292A= (p.Glu1431=) c.3959A= (p.Glu1320=) | |
7 | g.117665524A>C | CA327451 | CFTR | c.*411A>C (n.*411A>C) c.*3916A>C (n.*3916A>C) c.4019A>C (p.Glu1340Ala) c.*415A>C (n.*415A>C) c.*855A>C (n.*855A>C) c.4202A>C (p.Glu1401Ala) c.*863A>C (n.*863A>C) c.*2577A>C (n.*2577A>C) c.4196A>C (p.Glu1399Ala) c.*4026A>C (n.*4026A>C) c.3776A>C (p.Glu1259Ala) n.2370A>C c.1066A>C (n.1066A>C) c.1989A>C (n.1989A>C) c.784A>C c.1652A>C c.4112A>C (p.Glu1371Ala) c.328A>C c.4292A>C (p.Glu1431Ala) c.3959A>C (p.Glu1320Ala) | dbSNP |
7 | g.117665524A>G | CA327453 | CFTR | c.*411A>G (n.*411A>G) c.*3916A>G (n.*3916A>G) c.4019A>G (p.Glu1340Gly) c.*415A>G (n.*415A>G) c.*855A>G (n.*855A>G) c.4202A>G (p.Glu1401Gly) c.*863A>G (n.*863A>G) c.*2577A>G (n.*2577A>G) c.4196A>G (p.Glu1399Gly) c.*4026A>G (n.*4026A>G) c.3776A>G (p.Glu1259Gly) n.2370A>G c.1066A>G (n.1066A>G) c.1989A>G (n.1989A>G) c.784A>G c.1652A>G c.4112A>G (p.Glu1371Gly) c.328A>G c.4292A>G (p.Glu1431Gly) c.3959A>G (p.Glu1320Gly) | ClinVar dbSNP gnomAD v4 |
7 | g.117665524A>T | CA368983663 | CFTR | c.*411A>T (n.*411A>T) c.*3916A>T (n.*3916A>T) c.4019A>T (p.Glu1340Val) c.*415A>T (n.*415A>T) c.*855A>T (n.*855A>T) c.4202A>T (p.Glu1401Val) c.*863A>T (n.*863A>T) c.*2577A>T (n.*2577A>T) c.4196A>T (p.Glu1399Val) c.*4026A>T (n.*4026A>T) c.3776A>T (p.Glu1259Val) n.2370A>T c.1066A>T (n.1066A>T) c.1989A>T (n.1989A>T) c.784A>T c.1652A>T c.4112A>T (p.Glu1371Val) c.328A>T c.4292A>T (p.Glu1431Val) c.3959A>T (p.Glu1320Val) | |
7 | g.117665525A>C | CA368983666 | CFTR | c.*412A>C (n.*412A>C) c.*3917A>C (n.*3917A>C) c.4020A>C (p.Glu1340Asp) c.*416A>C (n.*416A>C) c.*856A>C (n.*856A>C) c.4203A>C (p.Glu1401Asp) c.*864A>C (n.*864A>C) c.*2578A>C (n.*2578A>C) c.4197A>C (p.Glu1399Asp) c.*4027A>C (n.*4027A>C) c.3777A>C (p.Glu1259Asp) n.2371A>C c.1067A>C (n.1067A>C) c.1990A>C (n.1990A>C) c.785A>C c.1653A>C c.4113A>C (p.Glu1371Asp) c.329A>C c.4293A>C (p.Glu1431Asp) c.3960A>C (p.Glu1320Asp) | |
7 | g.117665525A>G | CA457230886 | CFTR | c.*412A>G (n.*412A>G) c.*3917A>G (n.*3917A>G) c.4020A>G (p.Glu1340=) c.*416A>G (n.*416A>G) c.*856A>G (n.*856A>G) c.4203A>G (p.Glu1401=) c.*864A>G (n.*864A>G) c.*2578A>G (n.*2578A>G) c.4197A>G (p.Glu1399=) c.*4027A>G (n.*4027A>G) c.3777A>G (p.Glu1259=) n.2371A>G c.1067A>G (n.1067A>G) c.1990A>G (n.1990A>G) c.785A>G c.1653A>G c.4113A>G (p.Glu1371=) c.329A>G c.4293A>G (p.Glu1431=) c.3960A>G (p.Glu1320=) | |
7 | g.117665525A>T | CA368983669 | CFTR | c.*412A>T (n.*412A>T) c.*3917A>T (n.*3917A>T) c.4020A>T (p.Glu1340Asp) c.*416A>T (n.*416A>T) c.*856A>T (n.*856A>T) c.4203A>T (p.Glu1401Asp) c.*864A>T (n.*864A>T) c.*2578A>T (n.*2578A>T) c.4197A>T (p.Glu1399Asp) c.*4027A>T (n.*4027A>T) c.3777A>T (p.Glu1259Asp) n.2371A>T c.1067A>T (n.1067A>T) c.1990A>T (n.1990A>T) c.785A>T c.1653A>T c.4113A>T (p.Glu1371Asp) c.329A>T c.4293A>T (p.Glu1431Asp) c.3960A>T (p.Glu1320Asp) | |
7 | g.117665526C>A | CA368983672 | CFTR | c.*413C>A (n.*413C>A) c.*3918C>A (n.*3918C>A) c.4021C>A (p.His1341Asn) c.*417C>A (n.*417C>A) c.*857C>A (n.*857C>A) c.4204C>A (p.His1402Asn) c.*865C>A (n.*865C>A) c.*2579C>A (n.*2579C>A) c.4198C>A (p.His1400Asn) c.*4028C>A (n.*4028C>A) c.3778C>A (p.His1260Asn) n.2372C>A c.1068C>A (n.1068C>A) c.1991C>A (n.1991C>A) c.786C>A c.1654C>A c.4114C>A (p.His1372Asn) c.330C>A c.4294C>A (p.His1432Asn) c.3961C>A (p.His1321Asn) | |
7 | g.117665526C>G | CA368983677 | CFTR | c.*413C>G (n.*413C>G) c.*3918C>G (n.*3918C>G) c.4021C>G (p.His1341Asp) c.*417C>G (n.*417C>G) c.*857C>G (n.*857C>G) c.4204C>G (p.His1402Asp) c.*865C>G (n.*865C>G) c.*2579C>G (n.*2579C>G) c.4198C>G (p.His1400Asp) c.*4028C>G (n.*4028C>G) c.3778C>G (p.His1260Asp) n.2372C>G c.1068C>G (n.1068C>G) c.1991C>G (n.1991C>G) c.786C>G c.1654C>G c.4114C>G (p.His1372Asp) c.330C>G c.4294C>G (p.His1432Asp) c.3961C>G (p.His1321Asp) | |
7 | g.117665526C>T | CA368983675 | CFTR | c.*413C>T (n.*413C>T) c.*3918C>T (n.*3918C>T) c.4021C>T (p.His1341Tyr) c.*417C>T (n.*417C>T) c.*857C>T (n.*857C>T) c.4204C>T (p.His1402Tyr) c.*865C>T (n.*865C>T) c.*2579C>T (n.*2579C>T) c.4198C>T (p.His1400Tyr) c.*4028C>T (n.*4028C>T) c.3778C>T (p.His1260Tyr) n.2372C>T c.1068C>T (n.1068C>T) c.1991C>T (n.1991C>T) c.786C>T c.1654C>T c.4114C>T (p.His1372Tyr) c.330C>T c.4294C>T (p.His1432Tyr) c.3961C>T (p.His1321Tyr) | |
7 | g.117665527A>C | CA368983678 | CFTR | c.*414A>C (n.*414A>C) c.*3919A>C (n.*3919A>C) c.4022A>C (p.His1341Pro) c.*418A>C (n.*418A>C) c.*858A>C (n.*858A>C) c.4205A>C (p.His1402Pro) c.*866A>C (n.*866A>C) c.*2580A>C (n.*2580A>C) c.4199A>C (p.His1400Pro) c.*4029A>C (n.*4029A>C) c.3779A>C (p.His1260Pro) n.2373A>C c.1069A>C (n.1069A>C) c.1992A>C (n.1992A>C) c.787A>C c.1655A>C c.4115A>C (p.His1372Pro) c.331A>C c.4295A>C (p.His1432Pro) c.3962A>C (p.His1321Pro) |