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.117664743T>A | CA368982240 | CFTR | c.*228T>A (n.*228T>A) c.*3733T>A (n.*3733T>A) c.3836T>A (p.Val1279Glu) c.*232T>A (n.*232T>A) c.*672T>A (n.*672T>A) c.4019T>A (p.Val1340Glu) c.*680T>A (n.*680T>A) c.*2394T>A (n.*2394T>A) c.4013T>A (p.Val1338Glu) c.*3843T>A (n.*3843T>A) c.3593T>A (p.Val1198Glu) n.2187T>A c.883T>A (n.883T>A) c.1806T>A (n.1806T>A) c.601T>A c.1469T>A c.3929T>A (p.Val1310Glu) c.145T>A c.4109T>A (p.Val1370Glu) c.3776T>A (p.Val1259Glu) | ClinVar gnomAD v4 |
7 | g.117664743T>C | CA368982251 | CFTR | c.*228T>C (n.*228T>C) c.*3733T>C (n.*3733T>C) c.3836T>C (p.Val1279Ala) c.*232T>C (n.*232T>C) c.*672T>C (n.*672T>C) c.4019T>C (p.Val1340Ala) c.*680T>C (n.*680T>C) c.*2394T>C (n.*2394T>C) c.4013T>C (p.Val1338Ala) c.*3843T>C (n.*3843T>C) c.3593T>C (p.Val1198Ala) n.2187T>C c.883T>C (n.883T>C) c.1806T>C (n.1806T>C) c.601T>C c.1469T>C c.3929T>C (p.Val1310Ala) c.145T>C c.4109T>C (p.Val1370Ala) c.3776T>C (p.Val1259Ala) | |
7 | g.117664743T>G | CA368982255 | CFTR | c.*228T>G (n.*228T>G) c.*3733T>G (n.*3733T>G) c.3836T>G (p.Val1279Gly) c.*232T>G (n.*232T>G) c.*672T>G (n.*672T>G) c.4019T>G (p.Val1340Gly) c.*680T>G (n.*680T>G) c.*2394T>G (n.*2394T>G) c.4013T>G (p.Val1338Gly) c.*3843T>G (n.*3843T>G) c.3593T>G (p.Val1198Gly) n.2187T>G c.883T>G (n.883T>G) c.1806T>G (n.1806T>G) c.601T>G c.1469T>G c.3929T>G (p.Val1310Gly) c.145T>G c.4109T>G (p.Val1370Gly) c.3776T>G (p.Val1259Gly) | dbSNP |
7 | g.117664743T= | CA1737421859 | CFTR | c.*228T= (n.*228T=) c.*3733T= (n.*3733T=) c.3836T= (p.Val1279=) c.*232T= (n.*232T=) c.*672T= (n.*672T=) c.4019T= (p.Val1340=) c.*680T= (n.*680T=) c.*2394T= (n.*2394T=) c.4013T= (p.Val1338=) c.*3843T= (n.*3843T=) c.3593T= (p.Val1198=) n.2187T= c.883T= (n.883T=) c.1806T= (n.1806T=) c.601T= c.1469T= c.3929T= (p.Val1310=) c.145T= c.4109T= (p.Val1370=) c.3776T= (p.Val1259=) | |
7 | g.117664744G>A | CA457230293 | CFTR | c.*229G>A (n.*229G>A) c.*3734G>A (n.*3734G>A) c.3837G>A (p.Val1279=) c.*233G>A (n.*233G>A) c.*673G>A (n.*673G>A) c.4020G>A (p.Val1340=) c.*681G>A (n.*681G>A) c.*2395G>A (n.*2395G>A) c.4014G>A (p.Val1338=) c.*3844G>A (n.*3844G>A) c.3594G>A (p.Val1198=) n.2188G>A c.884G>A (n.884G>A) c.1807G>A (n.1807G>A) c.602G>A c.1470G>A c.3930G>A (p.Val1310=) c.146G>A c.4110G>A (p.Val1370=) c.3777G>A (p.Val1259=) | ClinVar COSMIC |
7 | g.117664744G>C | CA457230291 | CFTR | c.*229G>C (n.*229G>C) c.*3734G>C (n.*3734G>C) c.3837G>C (p.Val1279=) c.*233G>C (n.*233G>C) c.*673G>C (n.*673G>C) c.4020G>C (p.Val1340=) c.*681G>C (n.*681G>C) c.*2395G>C (n.*2395G>C) c.4014G>C (p.Val1338=) c.*3844G>C (n.*3844G>C) c.3594G>C (p.Val1198=) n.2188G>C c.884G>C (n.884G>C) c.1807G>C (n.1807G>C) c.602G>C c.1470G>C c.3930G>C (p.Val1310=) c.146G>C c.4110G>C (p.Val1370=) c.3777G>C (p.Val1259=) | |
7 | g.117664744G>T | CA457230292 | CFTR | c.*229G>T (n.*229G>T) c.*3734G>T (n.*3734G>T) c.3837G>T (p.Val1279=) c.*233G>T (n.*233G>T) c.*673G>T (n.*673G>T) c.4020G>T (p.Val1340=) c.*681G>T (n.*681G>T) c.*2395G>T (n.*2395G>T) c.4014G>T (p.Val1338=) c.*3844G>T (n.*3844G>T) c.3594G>T (p.Val1198=) n.2188G>T c.884G>T (n.884G>T) c.1807G>T (n.1807G>T) c.602G>T c.1470G>T c.3930G>T (p.Val1310=) c.146G>T c.4110G>T (p.Val1370=) c.3777G>T (p.Val1259=) | |
7 | g.117664745G>A | CA368982259 | CFTR | c.*230G>A (n.*230G>A) c.*3735G>A (n.*3735G>A) c.3838G>A (p.Asp1280Asn) c.*234G>A (n.*234G>A) c.*674G>A (n.*674G>A) c.4021G>A (p.Asp1341Asn) c.*682G>A (n.*682G>A) c.*2396G>A (n.*2396G>A) c.4015G>A (p.Asp1339Asn) c.*3845G>A (n.*3845G>A) c.3595G>A (p.Asp1199Asn) n.2189G>A c.885G>A (n.885G>A) c.1808G>A (n.1808G>A) c.603G>A c.1471G>A c.3931G>A (p.Asp1311Asn) c.147G>A c.4111G>A (p.Asp1371Asn) c.3778G>A (p.Asp1260Asn) | |
7 | g.117664745G>C | CA368982263 | CFTR | c.*230G>C (n.*230G>C) c.*3735G>C (n.*3735G>C) c.3838G>C (p.Asp1280His) c.*234G>C (n.*234G>C) c.*674G>C (n.*674G>C) c.4021G>C (p.Asp1341His) c.*682G>C (n.*682G>C) c.*2396G>C (n.*2396G>C) c.4015G>C (p.Asp1339His) c.*3845G>C (n.*3845G>C) c.3595G>C (p.Asp1199His) n.2189G>C c.885G>C (n.885G>C) c.1808G>C (n.1808G>C) c.603G>C c.1471G>C c.3931G>C (p.Asp1311His) c.147G>C c.4111G>C (p.Asp1371His) c.3778G>C (p.Asp1260His) | |
7 | g.117664745G>T | CA368982264 | CFTR | c.*230G>T (n.*230G>T) c.*3735G>T (n.*3735G>T) c.3838G>T (p.Asp1280Tyr) c.*234G>T (n.*234G>T) c.*674G>T (n.*674G>T) c.4021G>T (p.Asp1341Tyr) c.*682G>T (n.*682G>T) c.*2396G>T (n.*2396G>T) c.4015G>T (p.Asp1339Tyr) c.*3845G>T (n.*3845G>T) c.3595G>T (p.Asp1199Tyr) n.2189G>T c.885G>T (n.885G>T) c.1808G>T (n.1808G>T) c.603G>T c.1471G>T c.3931G>T (p.Asp1311Tyr) c.147G>T c.4111G>T (p.Asp1371Tyr) c.3778G>T (p.Asp1260Tyr) | |
7 | g.117664746A= | CA1737421864 | CFTR | c.*231A= (n.*231A=) c.*3736A= (n.*3736A=) c.3839A= (p.Asp1280=) c.*235A= (n.*235A=) c.*675A= (n.*675A=) c.4022A= (p.Asp1341=) c.*683A= (n.*683A=) c.*2397A= (n.*2397A=) c.4016A= (p.Asp1339=) c.*3846A= (n.*3846A=) c.3596A= (p.Asp1199=) n.2190A= c.886A= (n.886A=) c.1809A= (n.1809A=) c.604A= c.1472A= c.3932A= (p.Asp1311=) c.148A= c.4112A= (p.Asp1371=) c.3779A= (p.Asp1260=) | |
7 | g.117664746A>C | CA368982265 | CFTR | c.*231A>C (n.*231A>C) c.*3736A>C (n.*3736A>C) c.3839A>C (p.Asp1280Ala) c.*235A>C (n.*235A>C) c.*675A>C (n.*675A>C) c.4022A>C (p.Asp1341Ala) c.*683A>C (n.*683A>C) c.*2397A>C (n.*2397A>C) c.4016A>C (p.Asp1339Ala) c.*3846A>C (n.*3846A>C) c.3596A>C (p.Asp1199Ala) n.2190A>C c.886A>C (n.886A>C) c.1809A>C (n.1809A>C) c.604A>C c.1472A>C c.3932A>C (p.Asp1311Ala) c.148A>C c.4112A>C (p.Asp1371Ala) c.3779A>C (p.Asp1260Ala) | |
7 | g.117664746A>G | CA4451609 | CFTR | c.*231A>G (n.*231A>G) c.*3736A>G (n.*3736A>G) c.3839A>G (p.Asp1280Gly) c.*235A>G (n.*235A>G) c.*675A>G (n.*675A>G) c.4022A>G (p.Asp1341Gly) c.*683A>G (n.*683A>G) c.*2397A>G (n.*2397A>G) c.4016A>G (p.Asp1339Gly) c.*3846A>G (n.*3846A>G) c.3596A>G (p.Asp1199Gly) n.2190A>G c.886A>G (n.886A>G) c.1809A>G (n.1809A>G) c.604A>G c.1472A>G c.3932A>G (p.Asp1311Gly) c.148A>G c.4112A>G (p.Asp1371Gly) c.3779A>G (p.Asp1260Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117664746A>T | CA368982271 | CFTR | c.*231A>T (n.*231A>T) c.*3736A>T (n.*3736A>T) c.3839A>T (p.Asp1280Val) c.*235A>T (n.*235A>T) c.*675A>T (n.*675A>T) c.4022A>T (p.Asp1341Val) c.*683A>T (n.*683A>T) c.*2397A>T (n.*2397A>T) c.4016A>T (p.Asp1339Val) c.*3846A>T (n.*3846A>T) c.3596A>T (p.Asp1199Val) n.2190A>T c.886A>T (n.886A>T) c.1809A>T (n.1809A>T) c.604A>T c.1472A>T c.3932A>T (p.Asp1311Val) c.148A>T c.4112A>T (p.Asp1371Val) c.3779A>T (p.Asp1260Val) | |
7 | g.117664747del | CA2582341938 | CFTR | c.*232del (n.*232del) c.*3737del (n.*3737del) c.3840del (p.Asp1280GlufsTer6) c.*236del (n.*236del) c.*676del (n.*676del) c.4023del (p.Asp1341GlufsTer6) c.*684del (n.*684del) c.*2398del (n.*2398del) c.4017del (p.Asp1339GlufsTer6) c.*3847del (n.*3847del) c.3597del (p.Asp1199GlufsTer6) n.2191del c.887del (n.887del) c.1810del (n.1810del) c.605del c.1473del c.3933del (p.Asp1311GlufsTer6) c.149del c.4113del (p.Asp1371GlufsTer6) c.3780del (p.Asp1260GlufsTer6) | ClinVar |
7 | g.117664747T>A | CA368982279 | CFTR | c.*232T>A (n.*232T>A) c.*3737T>A (n.*3737T>A) c.3840T>A (p.Asp1280Glu) c.*236T>A (n.*236T>A) c.*676T>A (n.*676T>A) c.4023T>A (p.Asp1341Glu) c.*684T>A (n.*684T>A) c.*2398T>A (n.*2398T>A) c.4017T>A (p.Asp1339Glu) c.*3847T>A (n.*3847T>A) c.3597T>A (p.Asp1199Glu) n.2191T>A c.887T>A (n.887T>A) c.1810T>A (n.1810T>A) c.605T>A c.1473T>A c.3933T>A (p.Asp1311Glu) c.149T>A c.4113T>A (p.Asp1371Glu) c.3780T>A (p.Asp1260Glu) | |
7 | g.117664747T>C | CA457230294 | CFTR | c.*232T>C (n.*232T>C) c.*3737T>C (n.*3737T>C) c.3840T>C (p.Asp1280=) c.*236T>C (n.*236T>C) c.*676T>C (n.*676T>C) c.4023T>C (p.Asp1341=) c.*684T>C (n.*684T>C) c.*2398T>C (n.*2398T>C) c.4017T>C (p.Asp1339=) c.*3847T>C (n.*3847T>C) c.3597T>C (p.Asp1199=) n.2191T>C c.887T>C (n.887T>C) c.1810T>C (n.1810T>C) c.605T>C c.1473T>C c.3933T>C (p.Asp1311=) c.149T>C c.4113T>C (p.Asp1371=) c.3780T>C (p.Asp1260=) | |
7 | g.117664747T>G | CA368982285 | CFTR | c.*232T>G (n.*232T>G) c.*3737T>G (n.*3737T>G) c.3840T>G (p.Asp1280Glu) c.*236T>G (n.*236T>G) c.*676T>G (n.*676T>G) c.4023T>G (p.Asp1341Glu) c.*684T>G (n.*684T>G) c.*2398T>G (n.*2398T>G) c.4017T>G (p.Asp1339Glu) c.*3847T>G (n.*3847T>G) c.3597T>G (p.Asp1199Glu) n.2191T>G c.887T>G (n.887T>G) c.1810T>G (n.1810T>G) c.605T>G c.1473T>G c.3933T>G (p.Asp1311Glu) c.149T>G c.4113T>G (p.Asp1371Glu) c.3780T>G (p.Asp1260Glu) | |
7 | g.117664747_117664748delinsTG | CA1737421868 | CFTR | c.*232_*233delinsTG (n.*232_*233delinsTG) c.*3737_*3738delinsTG (n.*3737_*3738delinsTG) c.3840_3841delinsTG (p.Asp1280=) c.*236_*237delinsTG (n.*236_*237delinsTG) c.*676_*677delinsTG (n.*676_*677delinsTG) c.4023_4024delinsTG (p.Asp1341=) c.*684_*685delinsTG (n.*684_*685delinsTG) c.*2398_*2399delinsTG (n.*2398_*2399delinsTG) c.4017_4018delinsTG (p.Asp1339=) c.*3847_*3848delinsTG (n.*3847_*3848delinsTG) c.3597_3598delinsTG (p.Asp1199=) n.2191_2192delinsTG c.887_888delinsTG (n.887_888delinsTG) c.1810_1811delinsTG (n.1810_1811delinsTG) c.605_606delinsTG c.1473_1474delinsTG c.3933_3934delinsTG (p.Asp1311=) c.149_150delinsTG c.4113_4114delinsTG (p.Asp1371=) c.3780_3781delinsTG (p.Asp1260=) | |
7 | g.117664748G>A | CA368982293 | CFTR | c.*233G>A (n.*233G>A) c.*3738G>A (n.*3738G>A) c.3841G>A (p.Gly1281Arg) c.*237G>A (n.*237G>A) c.*677G>A (n.*677G>A) c.4024G>A (p.Gly1342Arg) c.*685G>A (n.*685G>A) c.*2399G>A (n.*2399G>A) c.4018G>A (p.Gly1340Arg) c.*3848G>A (n.*3848G>A) c.3598G>A (p.Gly1200Arg) n.2192G>A c.888G>A (n.888G>A) c.1811G>A (n.1811G>A) c.606G>A c.1474G>A c.3934G>A (p.Gly1312Arg) c.150G>A c.4114G>A (p.Gly1372Arg) c.3781G>A (p.Gly1261Arg) | ClinVar |
7 | g.117664748G>C | CA368982303 | CFTR | c.*233G>C (n.*233G>C) c.*3738G>C (n.*3738G>C) c.3841G>C (p.Gly1281Arg) c.*237G>C (n.*237G>C) c.*677G>C (n.*677G>C) c.4024G>C (p.Gly1342Arg) c.*685G>C (n.*685G>C) c.*2399G>C (n.*2399G>C) c.4018G>C (p.Gly1340Arg) c.*3848G>C (n.*3848G>C) c.3598G>C (p.Gly1200Arg) n.2192G>C c.888G>C (n.888G>C) c.1811G>C (n.1811G>C) c.606G>C c.1474G>C c.3934G>C (p.Gly1312Arg) c.150G>C c.4114G>C (p.Gly1372Arg) c.3781G>C (p.Gly1261Arg) | |
7 | g.117664748G>T | CA368982307 | CFTR | c.*233G>T (n.*233G>T) c.*3738G>T (n.*3738G>T) c.3841G>T (p.Gly1281Trp) c.*237G>T (n.*237G>T) c.*677G>T (n.*677G>T) c.4024G>T (p.Gly1342Trp) c.*685G>T (n.*685G>T) c.*2399G>T (n.*2399G>T) c.4018G>T (p.Gly1340Trp) c.*3848G>T (n.*3848G>T) c.3598G>T (p.Gly1200Trp) n.2192G>T c.888G>T (n.888G>T) c.1811G>T (n.1811G>T) c.606G>T c.1474G>T c.3934G>T (p.Gly1312Trp) c.150G>T c.4114G>T (p.Gly1372Trp) c.3781G>T (p.Gly1261Trp) | |
7 | g.117664752dup | CA2684649158 | CFTR | c.*237dup (n.*237dup) c.*3742dup (n.*3742dup) c.3845dup (p.Cys1283LeufsTer15) c.*241dup (n.*241dup) c.*681dup (n.*681dup) c.4028dup (p.Cys1344LeufsTer15) c.*689dup (n.*689dup) c.*2403dup (n.*2403dup) c.4022dup (p.Cys1342LeufsTer15) c.*3852dup (n.*3852dup) c.3602dup (p.Cys1202LeufsTer15) n.2196dup c.892dup (n.892dup) c.1815dup (n.1815dup) c.610dup c.1478dup c.3938dup (p.Cys1314LeufsTer15) c.154dup c.4118dup (p.Cys1374LeufsTer15) c.3785dup (p.Cys1263LeufsTer15) | gnomAD v4 |
7 | g.117664749_117664752dup | CA327384 | CFTR | c.*234_*237dup (n.*234_*237dup) c.*3739_*3742dup (n.*3739_*3742dup) c.3842_3845dup (p.Cys1283GlyfsTer16) c.*238_*241dup (n.*238_*241dup) c.*678_*681dup (n.*678_*681dup) c.4025_4028dup (p.Cys1344GlyfsTer16) c.*686_*689dup (n.*686_*689dup) c.*2400_*2403dup (n.*2400_*2403dup) c.4019_4022dup (p.Cys1342GlyfsTer16) c.*3849_*3852dup (n.*3849_*3852dup) c.3599_3602dup (p.Cys1202GlyfsTer16) n.2193_2196dup c.889_892dup (n.889_892dup) c.1812_1815dup (n.1812_1815dup) c.607_610dup c.1475_1478dup c.3935_3938dup (p.Cys1314GlyfsTer16) c.151_154dup c.4115_4118dup (p.Cys1374GlyfsTer16) c.3782_3785dup (p.Cys1263GlyfsTer16) | ClinVar dbSNP |
7 | g.117664752del | CA913189946 | CFTR | c.*237del (n.*237del) c.*3742del (n.*3742del) c.3845del (p.Gly1282AlafsTer4) c.*241del (n.*241del) c.*681del (n.*681del) c.4028del (p.Gly1343AlafsTer4) c.*689del (n.*689del) c.*2403del (n.*2403del) c.4022del (p.Gly1341AlafsTer4) c.*3852del (n.*3852del) c.3602del (p.Gly1201AlafsTer4) n.2196del c.892del (n.892del) c.1815del (n.1815del) c.610del c.1478del c.3938del (p.Gly1313AlafsTer4) c.154del c.4118del (p.Gly1373AlafsTer4) c.3785del (p.Gly1262AlafsTer4) | ClinVar dbSNP gnomAD v4 |
7 | g.117664749G>A | CA368982319 | CFTR | c.*234G>A (n.*234G>A) c.*3739G>A (n.*3739G>A) c.3842G>A (p.Gly1281Glu) c.*238G>A (n.*238G>A) c.*678G>A (n.*678G>A) c.4025G>A (p.Gly1342Glu) c.*686G>A (n.*686G>A) c.*2400G>A (n.*2400G>A) c.4019G>A (p.Gly1340Glu) c.*3849G>A (n.*3849G>A) c.3599G>A (p.Gly1200Glu) n.2193G>A c.889G>A (n.889G>A) c.1812G>A (n.1812G>A) c.607G>A c.1475G>A c.3935G>A (p.Gly1312Glu) c.151G>A c.4115G>A (p.Gly1372Glu) c.3782G>A (p.Gly1261Glu) | ClinVar dbSNP |
7 | g.117664749G>C | CA368982323 | CFTR | c.*234G>C (n.*234G>C) c.*3739G>C (n.*3739G>C) c.3842G>C (p.Gly1281Ala) c.*238G>C (n.*238G>C) c.*678G>C (n.*678G>C) c.4025G>C (p.Gly1342Ala) c.*686G>C (n.*686G>C) c.*2400G>C (n.*2400G>C) c.4019G>C (p.Gly1340Ala) c.*3849G>C (n.*3849G>C) c.3599G>C (p.Gly1200Ala) n.2193G>C c.889G>C (n.889G>C) c.1812G>C (n.1812G>C) c.607G>C c.1475G>C c.3935G>C (p.Gly1312Ala) c.151G>C c.4115G>C (p.Gly1372Ala) c.3782G>C (p.Gly1261Ala) | |
7 | g.117664749G= | CA1737421876 | CFTR | c.*234G= (n.*234G=) c.*3739G= (n.*3739G=) c.3842G= (p.Gly1281=) c.*238G= (n.*238G=) c.*678G= (n.*678G=) c.4025G= (p.Gly1342=) c.*686G= (n.*686G=) c.*2400G= (n.*2400G=) c.4019G= (p.Gly1340=) c.*3849G= (n.*3849G=) c.3599G= (p.Gly1200=) n.2193G= c.889G= (n.889G=) c.1812G= (n.1812G=) c.607G= c.1475G= c.3935G= (p.Gly1312=) c.151G= c.4115G= (p.Gly1372=) c.3782G= (p.Gly1261=) | |
7 | g.117664749G>T | CA368982326 | CFTR | c.*234G>T (n.*234G>T) c.*3739G>T (n.*3739G>T) c.3842G>T (p.Gly1281Val) c.*238G>T (n.*238G>T) c.*678G>T (n.*678G>T) c.4025G>T (p.Gly1342Val) c.*686G>T (n.*686G>T) c.*2400G>T (n.*2400G>T) c.4019G>T (p.Gly1340Val) c.*3849G>T (n.*3849G>T) c.3599G>T (p.Gly1200Val) n.2193G>T c.889G>T (n.889G>T) c.1812G>T (n.1812G>T) c.607G>T c.1475G>T c.3935G>T (p.Gly1312Val) c.151G>T c.4115G>T (p.Gly1372Val) c.3782G>T (p.Gly1261Val) | ClinVar |
7 | g.117664750G>A | CA457230295 | CFTR | c.*235G>A (n.*235G>A) c.*3740G>A (n.*3740G>A) c.3843G>A (p.Gly1281=) c.*239G>A (n.*239G>A) c.*679G>A (n.*679G>A) c.4026G>A (p.Gly1342=) c.*687G>A (n.*687G>A) c.*2401G>A (n.*2401G>A) c.4020G>A (p.Gly1340=) c.*3850G>A (n.*3850G>A) c.3600G>A (p.Gly1200=) n.2194G>A c.890G>A (n.890G>A) c.1813G>A (n.1813G>A) c.608G>A c.1476G>A c.3936G>A (p.Gly1312=) c.152G>A c.4116G>A (p.Gly1372=) c.3783G>A (p.Gly1261=) | ClinVar |
7 | g.117664750G>C | CA457230296 | CFTR | c.*235G>C (n.*235G>C) c.*3740G>C (n.*3740G>C) c.3843G>C (p.Gly1281=) c.*239G>C (n.*239G>C) c.*679G>C (n.*679G>C) c.4026G>C (p.Gly1342=) c.*687G>C (n.*687G>C) c.*2401G>C (n.*2401G>C) c.4020G>C (p.Gly1340=) c.*3850G>C (n.*3850G>C) c.3600G>C (p.Gly1200=) n.2194G>C c.890G>C (n.890G>C) c.1813G>C (n.1813G>C) c.608G>C c.1476G>C c.3936G>C (p.Gly1312=) c.152G>C c.4116G>C (p.Gly1372=) c.3783G>C (p.Gly1261=) | ClinVar dbSNP |
7 | g.117664750G= | CA1737421881 | CFTR | c.*235G= (n.*235G=) c.*3740G= (n.*3740G=) c.3843G= (p.Gly1281=) c.*239G= (n.*239G=) c.*679G= (n.*679G=) c.4026G= (p.Gly1342=) c.*687G= (n.*687G=) c.*2401G= (n.*2401G=) c.4020G= (p.Gly1340=) c.*3850G= (n.*3850G=) c.3600G= (p.Gly1200=) n.2194G= c.890G= (n.890G=) c.1813G= (n.1813G=) c.608G= c.1476G= c.3936G= (p.Gly1312=) c.152G= c.4116G= (p.Gly1372=) c.3783G= (p.Gly1261=) | |
7 | g.117664750G>T | CA457230297 | CFTR | c.*235G>T (n.*235G>T) c.*3740G>T (n.*3740G>T) c.3843G>T (p.Gly1281=) c.*239G>T (n.*239G>T) c.*679G>T (n.*679G>T) c.4026G>T (p.Gly1342=) c.*687G>T (n.*687G>T) c.*2401G>T (n.*2401G>T) c.4020G>T (p.Gly1340=) c.*3850G>T (n.*3850G>T) c.3600G>T (p.Gly1200=) n.2194G>T c.890G>T (n.890G>T) c.1813G>T (n.1813G>T) c.608G>T c.1476G>T c.3936G>T (p.Gly1312=) c.152G>T c.4116G>T (p.Gly1372=) c.3783G>T (p.Gly1261=) | ClinVar COSMIC |
7 | g.117664751G>A | CA4451610 | CFTR | c.*236G>A (n.*236G>A) c.*3741G>A (n.*3741G>A) c.3844G>A (p.Gly1282Ser) c.*240G>A (n.*240G>A) c.*680G>A (n.*680G>A) c.4027G>A (p.Gly1343Ser) c.*688G>A (n.*688G>A) c.*2402G>A (n.*2402G>A) c.4021G>A (p.Gly1341Ser) c.*3851G>A (n.*3851G>A) c.3601G>A (p.Gly1201Ser) n.2195G>A c.891G>A (n.891G>A) c.1814G>A (n.1814G>A) c.609G>A c.1477G>A c.3937G>A (p.Gly1313Ser) c.153G>A c.4117G>A (p.Gly1373Ser) c.3784G>A (p.Gly1262Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117664751G>C | CA368982333 | CFTR | c.*236G>C (n.*236G>C) c.*3741G>C (n.*3741G>C) c.3844G>C (p.Gly1282Arg) c.*240G>C (n.*240G>C) c.*680G>C (n.*680G>C) c.4027G>C (p.Gly1343Arg) c.*688G>C (n.*688G>C) c.*2402G>C (n.*2402G>C) c.4021G>C (p.Gly1341Arg) c.*3851G>C (n.*3851G>C) c.3601G>C (p.Gly1201Arg) n.2195G>C c.891G>C (n.891G>C) c.1814G>C (n.1814G>C) c.609G>C c.1477G>C c.3937G>C (p.Gly1313Arg) c.153G>C c.4117G>C (p.Gly1373Arg) c.3784G>C (p.Gly1262Arg) | |
7 | g.117664751G= | CA1737421885 | CFTR | c.*236G= (n.*236G=) c.*3741G= (n.*3741G=) c.3844G= (p.Gly1282=) c.*240G= (n.*240G=) c.*680G= (n.*680G=) c.4027G= (p.Gly1343=) c.*688G= (n.*688G=) c.*2402G= (n.*2402G=) c.4021G= (p.Gly1341=) c.*3851G= (n.*3851G=) c.3601G= (p.Gly1201=) n.2195G= c.891G= (n.891G=) c.1814G= (n.1814G=) c.609G= c.1477G= c.3937G= (p.Gly1313=) c.153G= c.4117G= (p.Gly1373=) c.3784G= (p.Gly1262=) | |
7 | g.117664751G>T | CA368982336 | CFTR | c.*236G>T (n.*236G>T) c.*3741G>T (n.*3741G>T) c.3844G>T (p.Gly1282Cys) c.*240G>T (n.*240G>T) c.*680G>T (n.*680G>T) c.4027G>T (p.Gly1343Cys) c.*688G>T (n.*688G>T) c.*2402G>T (n.*2402G>T) c.4021G>T (p.Gly1341Cys) c.*3851G>T (n.*3851G>T) c.3601G>T (p.Gly1201Cys) n.2195G>T c.891G>T (n.891G>T) c.1814G>T (n.1814G>T) c.609G>T c.1477G>T c.3937G>T (p.Gly1313Cys) c.153G>T c.4117G>T (p.Gly1373Cys) c.3784G>T (p.Gly1262Cys) | |
7 | g.117664752G>A | CA4451611 | CFTR | c.*237G>A (n.*237G>A) c.*3742G>A (n.*3742G>A) c.3845G>A (p.Gly1282Asp) c.*241G>A (n.*241G>A) c.*681G>A (n.*681G>A) c.4028G>A (p.Gly1343Asp) c.*689G>A (n.*689G>A) c.*2403G>A (n.*2403G>A) c.4022G>A (p.Gly1341Asp) c.*3852G>A (n.*3852G>A) c.3602G>A (p.Gly1201Asp) n.2196G>A c.892G>A (n.892G>A) c.1815G>A (n.1815G>A) c.610G>A c.1478G>A c.3938G>A (p.Gly1313Asp) c.154G>A c.4118G>A (p.Gly1373Asp) c.3785G>A (p.Gly1262Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117664752G>C | CA4451612 | CFTR | c.*237G>C (n.*237G>C) c.*3742G>C (n.*3742G>C) c.3845G>C (p.Gly1282Ala) c.*241G>C (n.*241G>C) c.*681G>C (n.*681G>C) c.4028G>C (p.Gly1343Ala) c.*689G>C (n.*689G>C) c.*2403G>C (n.*2403G>C) c.4022G>C (p.Gly1341Ala) c.*3852G>C (n.*3852G>C) c.3602G>C (p.Gly1201Ala) n.2196G>C c.892G>C (n.892G>C) c.1815G>C (n.1815G>C) c.610G>C c.1478G>C c.3938G>C (p.Gly1313Ala) c.154G>C c.4118G>C (p.Gly1373Ala) c.3785G>C (p.Gly1262Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117664752G= | CA1737421891 | CFTR | c.*237G= (n.*237G=) c.*3742G= (n.*3742G=) c.3845G= (p.Gly1282=) c.*241G= (n.*241G=) c.*681G= (n.*681G=) c.4028G= (p.Gly1343=) c.*689G= (n.*689G=) c.*2403G= (n.*2403G=) c.4022G= (p.Gly1341=) c.*3852G= (n.*3852G=) c.3602G= (p.Gly1201=) n.2196G= c.892G= (n.892G=) c.1815G= (n.1815G=) c.610G= c.1478G= c.3938G= (p.Gly1313=) c.154G= c.4118G= (p.Gly1373=) c.3785G= (p.Gly1262=) | |
7 | g.117664752G>T | CA368982349 | CFTR | c.*237G>T (n.*237G>T) c.*3742G>T (n.*3742G>T) c.3845G>T (p.Gly1282Val) c.*241G>T (n.*241G>T) c.*681G>T (n.*681G>T) c.4028G>T (p.Gly1343Val) c.*689G>T (n.*689G>T) c.*2403G>T (n.*2403G>T) c.4022G>T (p.Gly1341Val) c.*3852G>T (n.*3852G>T) c.3602G>T (p.Gly1201Val) n.2196G>T c.892G>T (n.892G>T) c.1815G>T (n.1815G>T) c.610G>T c.1478G>T c.3938G>T (p.Gly1313Val) c.154G>T c.4118G>T (p.Gly1373Val) c.3785G>T (p.Gly1262Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117664753C>A | CA457230298 | CFTR | c.*238C>A (n.*238C>A) c.*3743C>A (n.*3743C>A) c.3846C>A (p.Gly1282=) c.*242C>A (n.*242C>A) c.*682C>A (n.*682C>A) c.4029C>A (p.Gly1343=) c.*690C>A (n.*690C>A) c.*2404C>A (n.*2404C>A) c.4023C>A (p.Gly1341=) c.*3853C>A (n.*3853C>A) c.3603C>A (p.Gly1201=) n.2197C>A c.893C>A (n.893C>A) c.1816C>A (n.1816C>A) c.611C>A c.1479C>A c.3939C>A (p.Gly1313=) c.155C>A c.4119C>A (p.Gly1373=) c.3786C>A (p.Gly1262=) | |
7 | g.117664753C>G | CA457230299 | CFTR | c.*238C>G (n.*238C>G) c.*3743C>G (n.*3743C>G) c.3846C>G (p.Gly1282=) c.*242C>G (n.*242C>G) c.*682C>G (n.*682C>G) c.4029C>G (p.Gly1343=) c.*690C>G (n.*690C>G) c.*2404C>G (n.*2404C>G) c.4023C>G (p.Gly1341=) c.*3853C>G (n.*3853C>G) c.3603C>G (p.Gly1201=) n.2197C>G c.893C>G (n.893C>G) c.1816C>G (n.1816C>G) c.611C>G c.1479C>G c.3939C>G (p.Gly1313=) c.155C>G c.4119C>G (p.Gly1373=) c.3786C>G (p.Gly1262=) | |
7 | g.117664753C>T | CA457230300 | CFTR | c.*238C>T (n.*238C>T) c.*3743C>T (n.*3743C>T) c.3846C>T (p.Gly1282=) c.*242C>T (n.*242C>T) c.*682C>T (n.*682C>T) c.4029C>T (p.Gly1343=) c.*690C>T (n.*690C>T) c.*2404C>T (n.*2404C>T) c.4023C>T (p.Gly1341=) c.*3853C>T (n.*3853C>T) c.3603C>T (p.Gly1201=) n.2197C>T c.893C>T (n.893C>T) c.1816C>T (n.1816C>T) c.611C>T c.1479C>T c.3939C>T (p.Gly1313=) c.155C>T c.4119C>T (p.Gly1373=) c.3786C>T (p.Gly1262=) | gnomAD v4 |
7 | g.117664754T>A | CA368982354 | CFTR | c.*239T>A (n.*239T>A) c.*3744T>A (n.*3744T>A) c.3847T>A (p.Cys1283Ser) c.*243T>A (n.*243T>A) c.*683T>A (n.*683T>A) c.4030T>A (p.Cys1344Ser) c.*691T>A (n.*691T>A) c.*2405T>A (n.*2405T>A) c.4024T>A (p.Cys1342Ser) c.*3854T>A (n.*3854T>A) c.3604T>A (p.Cys1202Ser) n.2198T>A c.894T>A (n.894T>A) c.1817T>A (n.1817T>A) c.612T>A c.1480T>A c.3940T>A (p.Cys1314Ser) c.156T>A c.4120T>A (p.Cys1374Ser) c.3787T>A (p.Cys1263Ser) |