Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117660798_117670251delinsTAACTCA2580076337CFTRc.90-3890_368+4687delinsTAACT
 ClinVar
7g.117664610_117666141delCA264802CFTRc.*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
7g.117664686_117665563delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTTCA1737421696CFTRc.*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
7g.117664688_117667108delCA913189944CFTRc.*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
7g.117664690_117665566delCA913189945CFTRc.*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
7g.117664800_117664804delinsCTGTTCA1737422067CFTRc.*285_*289delinsCTGTT (n.*285_*289delinsCTGTT)
c.*3790_*3794delinsCTGTT (n.*3790_*3794delinsCTGTT)
c.3893_3897delinsCTGTT (p.Ser1298=)
c.*289_*293delinsCTGTT (n.*289_*293delinsCTGTT)
c.*729_*733delinsCTGTT (n.*729_*733delinsCTGTT)
c.4076_4080delinsCTGTT (p.Ser1359=)
c.*737_*741delinsCTGTT (n.*737_*741delinsCTGTT)
c.*2451_*2455delinsCTGTT (n.*2451_*2455delinsCTGTT)
c.4070_4074delinsCTGTT (p.Ser1357=)
c.*3900_*3904delinsCTGTT (n.*3900_*3904delinsCTGTT)
c.3650_3654delinsCTGTT (p.Ser1217=)
n.2244_2248delinsCTGTT
c.940_944delinsCTGTT (n.940_944delinsCTGTT)
c.1863_1867delinsCTGTT (n.1863_1867delinsCTGTT)
c.658_662delinsCTGTT
c.1526_1530delinsCTGTT
c.3986_3990delinsCTGTT (p.Ser1329=)
c.202_206delinsCTGTT
c.4166_4170delinsCTGTT (p.Ser1389=)
c.3833_3837delinsCTGTT (p.Ser1278=)
7g.117664801_117664804delCA1106320306CFTRc.*286_*289del (n.*286_*289del)
c.*3791_*3794del (n.*3791_*3794del)
c.3894_3897del (p.Val1299SerfsTer19)
c.*290_*293del (n.*290_*293del)
c.*730_*733del (n.*730_*733del)
c.4077_4080del (p.Val1360SerfsTer19)
c.*738_*741del (n.*738_*741del)
c.*2452_*2455del (n.*2452_*2455del)
c.4071_4074del (p.Val1358SerfsTer19)
c.*3901_*3904del (n.*3901_*3904del)
c.3651_3654del (p.Val1218SerfsTer19)
n.2245_2248del
c.941_944del (n.941_944del)
c.1864_1867del (n.1864_1867del)
c.659_662del
c.1527_1530del
c.3987_3990del (p.Val1330SerfsTer19)
c.203_206del
c.4167_4170del (p.Val1390SerfsTer19)
c.3834_3837del (p.Val1279SerfsTer19)
 dbSNP gnomAD v3 gnomAD v4
7g.117664801_117664804delinsAACA328121CFTRc.*286_*289delinsAA (n.*286_*289delinsAA)
c.*3791_*3794delinsAA (n.*3791_*3794delinsAA)
c.3894_3897delinsAA (p.Val1299ThrfsTer3)
c.*290_*293delinsAA (n.*290_*293delinsAA)
c.*730_*733delinsAA (n.*730_*733delinsAA)
c.4077_4080delinsAA (p.Val1360ThrfsTer3)
c.*738_*741delinsAA (n.*738_*741delinsAA)
c.*2452_*2455delinsAA (n.*2452_*2455delinsAA)
c.4071_4074delinsAA (p.Val1358ThrfsTer3)
c.*3901_*3904delinsAA (n.*3901_*3904delinsAA)
c.3651_3654delinsAA (p.Val1218ThrfsTer3)
n.2245_2248delinsAA
c.941_944delinsAA (n.941_944delinsAA)
c.1864_1867delinsAA (n.1864_1867delinsAA)
c.659_662delinsAA
c.1527_1530delinsAA
c.3987_3990delinsAA (p.Val1330ThrfsTer3)
c.203_206delinsAA
c.4167_4170delinsAA (p.Val1390ThrfsTer3)
c.3834_3837delinsAA (p.Val1279ThrfsTer3)
 ClinVar dbSNP
7g.117664804T>ACA164960249CFTRc.*289T>A (n.*289T>A)
c.*3794T>A (n.*3794T>A)
c.3897T>A (p.Val1299=)
c.*293T>A (n.*293T>A)
c.*733T>A (n.*733T>A)
c.4080T>A (p.Val1360=)
c.*741T>A (n.*741T>A)
c.*2455T>A (n.*2455T>A)
c.4074T>A (p.Val1358=)
c.*3904T>A (n.*3904T>A)
c.3654T>A (p.Val1218=)
n.2248T>A
c.944T>A (n.944T>A)
c.1867T>A (n.1867T>A)
c.662T>A
c.1530T>A
c.3990T>A (p.Val1330=)
c.206T>A
c.4170T>A (p.Val1390=)
c.3837T>A (p.Val1279=)
 dbSNP
7g.117664804T>CCA457230425CFTRc.*289T>C (n.*289T>C)
c.*3794T>C (n.*3794T>C)
c.3897T>C (p.Val1299=)
c.*293T>C (n.*293T>C)
c.*733T>C (n.*733T>C)
c.4080T>C (p.Val1360=)
c.*741T>C (n.*741T>C)
c.*2455T>C (n.*2455T>C)
c.4074T>C (p.Val1358=)
c.*3904T>C (n.*3904T>C)
c.3654T>C (p.Val1218=)
n.2248T>C
c.944T>C (n.944T>C)
c.1867T>C (n.1867T>C)
c.662T>C
c.1530T>C
c.3990T>C (p.Val1330=)
c.206T>C
c.4170T>C (p.Val1390=)
c.3837T>C (p.Val1279=)
 dbSNP
7g.117664804T>GCA457230428CFTRc.*289T>G (n.*289T>G)
c.*3794T>G (n.*3794T>G)
c.3897T>G (p.Val1299=)
c.*293T>G (n.*293T>G)
c.*733T>G (n.*733T>G)
c.4080T>G (p.Val1360=)
c.*741T>G (n.*741T>G)
c.*2455T>G (n.*2455T>G)
c.4074T>G (p.Val1358=)
c.*3904T>G (n.*3904T>G)
c.3654T>G (p.Val1218=)
n.2248T>G
c.944T>G (n.944T>G)
c.1867T>G (n.1867T>G)
c.662T>G
c.1530T>G
c.3990T>G (p.Val1330=)
c.206T>G
c.4170T>G (p.Val1390=)
c.3837T>G (p.Val1279=)
7g.117664804T=CA1737422092CFTRc.*289T= (n.*289T=)
c.*3794T= (n.*3794T=)
c.3897T= (p.Val1299=)
c.*293T= (n.*293T=)
c.*733T= (n.*733T=)
c.4080T= (p.Val1360=)
c.*741T= (n.*741T=)
c.*2455T= (n.*2455T=)
c.4074T= (p.Val1358=)
c.*3904T= (n.*3904T=)
c.3654T= (p.Val1218=)
n.2248T=
c.944T= (n.944T=)
c.1867T= (n.1867T=)
c.662T=
c.1530T=
c.3990T= (p.Val1330=)
c.206T=
c.4170T= (p.Val1390=)
c.3837T= (p.Val1279=)
7g.117664804_117664805insAACA1106320310CFTRc.*289_*290insAA (n.*289_*290insAA)
c.*3794_*3795insAA (n.*3794_*3795insAA)
c.3897_3898insAA (p.Leu1300AsnfsTer20)
c.*293_*294insAA (n.*293_*294insAA)
c.*733_*734insAA (n.*733_*734insAA)
c.4080_4081insAA (p.Leu1361AsnfsTer20)
c.*741_*742insAA (n.*741_*742insAA)
c.*2455_*2456insAA (n.*2455_*2456insAA)
c.4074_4075insAA (p.Leu1359AsnfsTer20)
c.*3904_*3905insAA (n.*3904_*3905insAA)
c.3654_3655insAA (p.Leu1219AsnfsTer20)
n.2248_2249insAA
c.944_945insAA (n.944_945insAA)
c.1867_1868insAA (n.1867_1868insAA)
c.662_663insAA
c.1530_1531insAA
c.3990_3991insAA (p.Leu1331AsnfsTer20)
c.206_207insAA
c.4170_4171insAA (p.Leu1391AsnfsTer20)
c.3837_3838insAA (p.Leu1280AsnfsTer20)
 dbSNP gnomAD v3 gnomAD v4
7g.117664805C>ACA368982716CFTRc.*290C>A (n.*290C>A)
c.*3795C>A (n.*3795C>A)
c.3898C>A (p.Leu1300Ile)
c.*294C>A (n.*294C>A)
c.*734C>A (n.*734C>A)
c.4081C>A (p.Leu1361Ile)
c.*742C>A (n.*742C>A)
c.*2456C>A (n.*2456C>A)
c.4075C>A (p.Leu1359Ile)
c.*3905C>A (n.*3905C>A)
c.3655C>A (p.Leu1219Ile)
n.2249C>A
c.945C>A (n.945C>A)
c.1868C>A (n.1868C>A)
c.663C>A
c.1531C>A
c.3991C>A (p.Leu1331Ile)
c.207C>A
c.4171C>A (p.Leu1391Ile)
c.3838C>A (p.Leu1280Ile)
7g.117664805C=CA1737422099CFTRc.*290C= (n.*290C=)
c.*3795C= (n.*3795C=)
c.3898C= (p.Leu1300=)
c.*294C= (n.*294C=)
c.*734C= (n.*734C=)
c.4081C= (p.Leu1361=)
c.*742C= (n.*742C=)
c.*2456C= (n.*2456C=)
c.4075C= (p.Leu1359=)
c.*3905C= (n.*3905C=)
c.3655C= (p.Leu1219=)
n.2249C=
c.945C= (n.945C=)
c.1868C= (n.1868C=)
c.663C=
c.1531C=
c.3991C= (p.Leu1331=)
c.207C=
c.4171C= (p.Leu1391=)
c.3838C= (p.Leu1280=)
7g.117664805C>GCA4451624CFTRc.*290C>G (n.*290C>G)
c.*3795C>G (n.*3795C>G)
c.3898C>G (p.Leu1300Val)
c.*294C>G (n.*294C>G)
c.*734C>G (n.*734C>G)
c.4081C>G (p.Leu1361Val)
c.*742C>G (n.*742C>G)
c.*2456C>G (n.*2456C>G)
c.4075C>G (p.Leu1359Val)
c.*3905C>G (n.*3905C>G)
c.3655C>G (p.Leu1219Val)
n.2249C>G
c.945C>G (n.945C>G)
c.1868C>G (n.1868C>G)
c.663C>G
c.1531C>G
c.3991C>G (p.Leu1331Val)
c.207C>G
c.4171C>G (p.Leu1391Val)
c.3838C>G (p.Leu1280Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117664805C>TCA368982719CFTRc.*290C>T (n.*290C>T)
c.*3795C>T (n.*3795C>T)
c.3898C>T (p.Leu1300Phe)
c.*294C>T (n.*294C>T)
c.*734C>T (n.*734C>T)
c.4081C>T (p.Leu1361Phe)
c.*742C>T (n.*742C>T)
c.*2456C>T (n.*2456C>T)
c.4075C>T (p.Leu1359Phe)
c.*3905C>T (n.*3905C>T)
c.3655C>T (p.Leu1219Phe)
n.2249C>T
c.945C>T (n.945C>T)
c.1868C>T (n.1868C>T)
c.663C>T
c.1531C>T
c.3991C>T (p.Leu1331Phe)
c.207C>T
c.4171C>T (p.Leu1391Phe)
c.3838C>T (p.Leu1280Phe)
 dbSNP
7g.117664806T>ACA368982722CFTRc.*291T>A (n.*291T>A)
c.*3796T>A (n.*3796T>A)
c.3899T>A (p.Leu1300His)
c.*295T>A (n.*295T>A)
c.*735T>A (n.*735T>A)
c.4082T>A (p.Leu1361His)
c.*743T>A (n.*743T>A)
c.*2457T>A (n.*2457T>A)
c.4076T>A (p.Leu1359His)
c.*3906T>A (n.*3906T>A)
c.3656T>A (p.Leu1219His)
n.2250T>A
c.946T>A (n.946T>A)
c.1869T>A (n.1869T>A)
c.664T>A
c.1532T>A
c.3992T>A (p.Leu1331His)
c.208T>A
c.4172T>A (p.Leu1391His)
c.3839T>A (p.Leu1280His)
7g.117664806T>CCA368982724CFTRc.*291T>C (n.*291T>C)
c.*3796T>C (n.*3796T>C)
c.3899T>C (p.Leu1300Pro)
c.*295T>C (n.*295T>C)
c.*735T>C (n.*735T>C)
c.4082T>C (p.Leu1361Pro)
c.*743T>C (n.*743T>C)
c.*2457T>C (n.*2457T>C)
c.4076T>C (p.Leu1359Pro)
c.*3906T>C (n.*3906T>C)
c.3656T>C (p.Leu1219Pro)
n.2250T>C
c.946T>C (n.946T>C)
c.1869T>C (n.1869T>C)
c.664T>C
c.1532T>C
c.3992T>C (p.Leu1331Pro)
c.208T>C
c.4172T>C (p.Leu1391Pro)
c.3839T>C (p.Leu1280Pro)
7g.117664806T>GCA368982726CFTRc.*291T>G (n.*291T>G)
c.*3796T>G (n.*3796T>G)
c.3899T>G (p.Leu1300Arg)
c.*295T>G (n.*295T>G)
c.*735T>G (n.*735T>G)
c.4082T>G (p.Leu1361Arg)
c.*743T>G (n.*743T>G)
c.*2457T>G (n.*2457T>G)
c.4076T>G (p.Leu1359Arg)
c.*3906T>G (n.*3906T>G)
c.3656T>G (p.Leu1219Arg)
n.2250T>G
c.946T>G (n.946T>G)
c.1869T>G (n.1869T>G)
c.664T>G
c.1532T>G
c.3992T>G (p.Leu1331Arg)
c.208T>G
c.4172T>G (p.Leu1391Arg)
c.3839T>G (p.Leu1280Arg)
 gnomAD v4
7g.117664807C>ACA457230443CFTRc.*292C>A (n.*292C>A)
c.*3797C>A (n.*3797C>A)
c.3900C>A (p.Leu1300=)
c.*296C>A (n.*296C>A)
c.*736C>A (n.*736C>A)
c.4083C>A (p.Leu1361=)
c.*744C>A (n.*744C>A)
c.*2458C>A (n.*2458C>A)
c.4077C>A (p.Leu1359=)
c.*3907C>A (n.*3907C>A)
c.3657C>A (p.Leu1219=)
n.2251C>A
c.947C>A (n.947C>A)
c.1870C>A (n.1870C>A)
c.665C>A
c.1533C>A
c.3993C>A (p.Leu1331=)
c.209C>A
c.4173C>A (p.Leu1391=)
c.3840C>A (p.Leu1280=)
7g.117664807C>GCA457230440CFTRc.*292C>G (n.*292C>G)
c.*3797C>G (n.*3797C>G)
c.3900C>G (p.Leu1300=)
c.*296C>G (n.*296C>G)
c.*736C>G (n.*736C>G)
c.4083C>G (p.Leu1361=)
c.*744C>G (n.*744C>G)
c.*2458C>G (n.*2458C>G)
c.4077C>G (p.Leu1359=)
c.*3907C>G (n.*3907C>G)
c.3657C>G (p.Leu1219=)
n.2251C>G
c.947C>G (n.947C>G)
c.1870C>G (n.1870C>G)
c.665C>G
c.1533C>G
c.3993C>G (p.Leu1331=)
c.209C>G
c.4173C>G (p.Leu1391=)
c.3840C>G (p.Leu1280=)
7g.117664807C>TCA457230444CFTRc.*292C>T (n.*292C>T)
c.*3797C>T (n.*3797C>T)
c.3900C>T (p.Leu1300=)
c.*296C>T (n.*296C>T)
c.*736C>T (n.*736C>T)
c.4083C>T (p.Leu1361=)
c.*744C>T (n.*744C>T)
c.*2458C>T (n.*2458C>T)
c.4077C>T (p.Leu1359=)
c.*3907C>T (n.*3907C>T)
c.3657C>T (p.Leu1219=)
n.2251C>T
c.947C>T (n.947C>T)
c.1870C>T (n.1870C>T)
c.665C>T
c.1533C>T
c.3993C>T (p.Leu1331=)
c.209C>T
c.4173C>T (p.Leu1391=)
c.3840C>T (p.Leu1280=)
 ClinVar
7g.117664808A>CCA368982729CFTRc.*293A>C (n.*293A>C)
c.*3798A>C (n.*3798A>C)
c.3901A>C (p.Ser1301Arg)
c.*297A>C (n.*297A>C)
c.*737A>C (n.*737A>C)
c.4084A>C (p.Ser1362Arg)
c.*745A>C (n.*745A>C)
c.*2459A>C (n.*2459A>C)
c.4078A>C (p.Ser1360Arg)
c.*3908A>C (n.*3908A>C)
c.3658A>C (p.Ser1220Arg)
n.2252A>C
c.948A>C (n.948A>C)
c.1871A>C (n.1871A>C)
c.666A>C
c.1534A>C
c.3994A>C (p.Ser1332Arg)
c.210A>C
c.4174A>C (p.Ser1392Arg)
c.3841A>C (p.Ser1281Arg)
7g.117664808A>GCA368982731CFTRc.*293A>G (n.*293A>G)
c.*3798A>G (n.*3798A>G)
c.3901A>G (p.Ser1301Gly)
c.*297A>G (n.*297A>G)
c.*737A>G (n.*737A>G)
c.4084A>G (p.Ser1362Gly)
c.*745A>G (n.*745A>G)
c.*2459A>G (n.*2459A>G)
c.4078A>G (p.Ser1360Gly)
c.*3908A>G (n.*3908A>G)
c.3658A>G (p.Ser1220Gly)
n.2252A>G
c.948A>G (n.948A>G)
c.1871A>G (n.1871A>G)
c.666A>G
c.1534A>G
c.3994A>G (p.Ser1332Gly)
c.210A>G
c.4174A>G (p.Ser1392Gly)
c.3841A>G (p.Ser1281Gly)
7g.117664808A>TCA368982733CFTRc.*293A>T (n.*293A>T)
c.*3798A>T (n.*3798A>T)
c.3901A>T (p.Ser1301Cys)
c.*297A>T (n.*297A>T)
c.*737A>T (n.*737A>T)
c.4084A>T (p.Ser1362Cys)
c.*745A>T (n.*745A>T)
c.*2459A>T (n.*2459A>T)
c.4078A>T (p.Ser1360Cys)
c.*3908A>T (n.*3908A>T)
c.3658A>T (p.Ser1220Cys)
n.2252A>T
c.948A>T (n.948A>T)
c.1871A>T (n.1871A>T)
c.666A>T
c.1534A>T
c.3994A>T (p.Ser1332Cys)
c.210A>T
c.4174A>T (p.Ser1392Cys)
c.3841A>T (p.Ser1281Cys)
7g.117664809G>ACA4451625CFTRc.*294G>A (n.*294G>A)
c.*3799G>A (n.*3799G>A)
c.3902G>A (p.Ser1301Asn)
c.*298G>A (n.*298G>A)
c.*738G>A (n.*738G>A)
c.4085G>A (p.Ser1362Asn)
c.*746G>A (n.*746G>A)
c.*2460G>A (n.*2460G>A)
c.4079G>A (p.Ser1360Asn)
c.*3909G>A (n.*3909G>A)
c.3659G>A (p.Ser1220Asn)
n.2253G>A
c.949G>A (n.949G>A)
c.1872G>A (n.1872G>A)
c.667G>A
c.1535G>A
c.3995G>A (p.Ser1332Asn)
c.211G>A
c.4175G>A (p.Ser1392Asn)
c.3842G>A (p.Ser1281Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.117664809G>CCA4451626CFTRc.*294G>C (n.*294G>C)
c.*3799G>C (n.*3799G>C)
c.3902G>C (p.Ser1301Thr)
c.*298G>C (n.*298G>C)
c.*738G>C (n.*738G>C)
c.4085G>C (p.Ser1362Thr)
c.*746G>C (n.*746G>C)
c.*2460G>C (n.*2460G>C)
c.4079G>C (p.Ser1360Thr)
c.*3909G>C (n.*3909G>C)
c.3659G>C (p.Ser1220Thr)
n.2253G>C
c.949G>C (n.949G>C)
c.1872G>C (n.1872G>C)
c.667G>C
c.1535G>C
c.3995G>C (p.Ser1332Thr)
c.211G>C
c.4175G>C (p.Ser1392Thr)
c.3842G>C (p.Ser1281Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117664809G=CA1737422103CFTRc.*294G= (n.*294G=)
c.*3799G= (n.*3799G=)
c.3902G= (p.Ser1301=)
c.*298G= (n.*298G=)
c.*738G= (n.*738G=)
c.4085G= (p.Ser1362=)
c.*746G= (n.*746G=)
c.*2460G= (n.*2460G=)
c.4079G= (p.Ser1360=)
c.*3909G= (n.*3909G=)
c.3659G= (p.Ser1220=)
n.2253G=
c.949G= (n.949G=)
c.1872G= (n.1872G=)
c.667G=
c.1535G=
c.3995G= (p.Ser1332=)
c.211G=
c.4175G= (p.Ser1392=)
c.3842G= (p.Ser1281=)
7g.117664809G>TCA368982736CFTRc.*294G>T (n.*294G>T)
c.*3799G>T (n.*3799G>T)
c.3902G>T (p.Ser1301Ile)
c.*298G>T (n.*298G>T)
c.*738G>T (n.*738G>T)
c.4085G>T (p.Ser1362Ile)
c.*746G>T (n.*746G>T)
c.*2460G>T (n.*2460G>T)
c.4079G>T (p.Ser1360Ile)
c.*3909G>T (n.*3909G>T)
c.3659G>T (p.Ser1220Ile)
n.2253G>T
c.949G>T (n.949G>T)
c.1872G>T (n.1872G>T)
c.667G>T
c.1535G>T
c.3995G>T (p.Ser1332Ile)
c.211G>T
c.4175G>T (p.Ser1392Ile)
c.3842G>T (p.Ser1281Ile)
7g.117664810T>ACA368982739CFTRc.*295T>A (n.*295T>A)
c.*3800T>A (n.*3800T>A)
c.3903T>A (p.Ser1301Arg)
c.*299T>A (n.*299T>A)
c.*739T>A (n.*739T>A)
c.4086T>A (p.Ser1362Arg)
c.*747T>A (n.*747T>A)
c.*2461T>A (n.*2461T>A)
c.4080T>A (p.Ser1360Arg)
c.*3910T>A (n.*3910T>A)
c.3660T>A (p.Ser1220Arg)
n.2254T>A
c.950T>A (n.950T>A)
c.1873T>A (n.1873T>A)
c.668T>A
c.1536T>A
c.3996T>A (p.Ser1332Arg)
c.212T>A
c.4176T>A (p.Ser1392Arg)
c.3843T>A (p.Ser1281Arg)
7g.117664810T>CCA457230450CFTRc.*295T>C (n.*295T>C)
c.*3800T>C (n.*3800T>C)
c.3903T>C (p.Ser1301=)
c.*299T>C (n.*299T>C)
c.*739T>C (n.*739T>C)
c.4086T>C (p.Ser1362=)
c.*747T>C (n.*747T>C)
c.*2461T>C (n.*2461T>C)
c.4080T>C (p.Ser1360=)
c.*3910T>C (n.*3910T>C)
c.3660T>C (p.Ser1220=)
n.2254T>C
c.950T>C (n.950T>C)
c.1873T>C (n.1873T>C)
c.668T>C
c.1536T>C
c.3996T>C (p.Ser1332=)
c.212T>C
c.4176T>C (p.Ser1392=)
c.3843T>C (p.Ser1281=)
7g.117664810T>GCA368982742CFTRc.*295T>G (n.*295T>G)
c.*3800T>G (n.*3800T>G)
c.3903T>G (p.Ser1301Arg)
c.*299T>G (n.*299T>G)
c.*739T>G (n.*739T>G)
c.4086T>G (p.Ser1362Arg)
c.*747T>G (n.*747T>G)
c.*2461T>G (n.*2461T>G)
c.4080T>G (p.Ser1360Arg)
c.*3910T>G (n.*3910T>G)
c.3660T>G (p.Ser1220Arg)
n.2254T>G
c.950T>G (n.950T>G)
c.1873T>G (n.1873T>G)
c.668T>G
c.1536T>G
c.3996T>G (p.Ser1332Arg)
c.212T>G
c.4176T>G (p.Ser1392Arg)
c.3843T>G (p.Ser1281Arg)
7g.117664810dupCA327394CFTRc.*295dup (n.*295dup)
c.*3800dup (n.*3800dup)
c.3903dup (p.Lys1302Ter)
c.*299dup (n.*299dup)
c.*739dup (n.*739dup)
c.4086dup (p.Lys1363Ter)
c.*747dup (n.*747dup)
c.*2461dup (n.*2461dup)
c.4080dup (p.Lys1361Ter)
c.*3910dup (n.*3910dup)
c.3660dup (p.Lys1221Ter)
n.2254dup
c.950dup (n.950dup)
c.1873dup (n.1873dup)
c.668dup
c.1536dup
c.3996dup (p.Lys1333Ter)
c.212dup
c.4176dup (p.Lys1393Ter)
c.3843dup (p.Lys1282Ter)
 ClinVar dbSNP gnomAD v4
7g.117664811A=CA1737422115CFTRc.*296A= (n.*296A=)
c.*3801A= (n.*3801A=)
c.3904A= (p.Lys1302=)
c.*300A= (n.*300A=)
c.*740A= (n.*740A=)
c.4087A= (p.Lys1363=)
c.*748A= (n.*748A=)
c.*2462A= (n.*2462A=)
c.4081A= (p.Lys1361=)
c.*3911A= (n.*3911A=)
c.3661A= (p.Lys1221=)
n.2255A=
c.951A= (n.951A=)
c.1874A= (n.1874A=)
c.669A=
c.1537A=
c.3997A= (p.Lys1333=)
c.213A=
c.4177A= (p.Lys1393=)
c.3844A= (p.Lys1282=)
7g.117664811A>CCA16612022CFTRc.*296A>C (n.*296A>C)
c.*3801A>C (n.*3801A>C)
c.3904A>C (p.Lys1302Gln)
c.*300A>C (n.*300A>C)
c.*740A>C (n.*740A>C)
c.4087A>C (p.Lys1363Gln)
c.*748A>C (n.*748A>C)
c.*2462A>C (n.*2462A>C)
c.4081A>C (p.Lys1361Gln)
c.*3911A>C (n.*3911A>C)
c.3661A>C (p.Lys1221Gln)
n.2255A>C
c.951A>C (n.951A>C)
c.1874A>C (n.1874A>C)
c.669A>C
c.1537A>C
c.3997A>C (p.Lys1333Gln)
c.213A>C
c.4177A>C (p.Lys1393Gln)
c.3844A>C (p.Lys1282Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117664811A>GCA368982743CFTRc.*296A>G (n.*296A>G)
c.*3801A>G (n.*3801A>G)
c.3904A>G (p.Lys1302Glu)
c.*300A>G (n.*300A>G)
c.*740A>G (n.*740A>G)
c.4087A>G (p.Lys1363Glu)
c.*748A>G (n.*748A>G)
c.*2462A>G (n.*2462A>G)
c.4081A>G (p.Lys1361Glu)
c.*3911A>G (n.*3911A>G)
c.3661A>G (p.Lys1221Glu)
n.2255A>G
c.951A>G (n.951A>G)
c.1874A>G (n.1874A>G)
c.669A>G
c.1537A>G
c.3997A>G (p.Lys1333Glu)
c.213A>G
c.4177A>G (p.Lys1393Glu)
c.3844A>G (p.Lys1282Glu)
7g.117664811A>TCA368982744CFTRc.*296A>T (n.*296A>T)
c.*3801A>T (n.*3801A>T)
c.3904A>T (p.Lys1302Ter)
c.*300A>T (n.*300A>T)
c.*740A>T (n.*740A>T)
c.4087A>T (p.Lys1363Ter)
c.*748A>T (n.*748A>T)
c.*2462A>T (n.*2462A>T)
c.4081A>T (p.Lys1361Ter)
c.*3911A>T (n.*3911A>T)
c.3661A>T (p.Lys1221Ter)
n.2255A>T
c.951A>T (n.951A>T)
c.1874A>T (n.1874A>T)
c.669A>T
c.1537A>T
c.3997A>T (p.Lys1333Ter)
c.213A>T
c.4177A>T (p.Lys1393Ter)
c.3844A>T (p.Lys1282Ter)
7g.117664812A=CA1737422120CFTRc.*297A= (n.*297A=)
c.*3802A= (n.*3802A=)
c.3905A= (p.Lys1302=)
c.*301A= (n.*301A=)
c.*741A= (n.*741A=)
c.4088A= (p.Lys1363=)
c.*749A= (n.*749A=)
c.*2463A= (n.*2463A=)
c.4082A= (p.Lys1361=)
c.*3912A= (n.*3912A=)
c.3662A= (p.Lys1221=)
n.2256A=
c.952A= (n.952A=)
c.1875A= (n.1875A=)
c.670A=
c.1538A=
c.3998A= (p.Lys1333=)
c.214A=
c.4178A= (p.Lys1393=)
c.3845A= (p.Lys1282=)
7g.117664812A>CCA368982746CFTRc.*297A>C (n.*297A>C)
c.*3802A>C (n.*3802A>C)
c.3905A>C (p.Lys1302Thr)
c.*301A>C (n.*301A>C)
c.*741A>C (n.*741A>C)
c.4088A>C (p.Lys1363Thr)
c.*749A>C (n.*749A>C)
c.*2463A>C (n.*2463A>C)
c.4082A>C (p.Lys1361Thr)
c.*3912A>C (n.*3912A>C)
c.3662A>C (p.Lys1221Thr)
n.2256A>C
c.952A>C (n.952A>C)
c.1875A>C (n.1875A>C)
c.670A>C
c.1538A>C
c.3998A>C (p.Lys1333Thr)
c.214A>C
c.4178A>C (p.Lys1393Thr)
c.3845A>C (p.Lys1282Thr)
7g.117664812A>GCA368982749CFTRc.*297A>G (n.*297A>G)
c.*3802A>G (n.*3802A>G)
c.3905A>G (p.Lys1302Arg)
c.*301A>G (n.*301A>G)
c.*741A>G (n.*741A>G)
c.4088A>G (p.Lys1363Arg)
c.*749A>G (n.*749A>G)
c.*2463A>G (n.*2463A>G)
c.4082A>G (p.Lys1361Arg)
c.*3912A>G (n.*3912A>G)
c.3662A>G (p.Lys1221Arg)
n.2256A>G
c.952A>G (n.952A>G)
c.1875A>G (n.1875A>G)
c.670A>G
c.1538A>G
c.3998A>G (p.Lys1333Arg)
c.214A>G
c.4178A>G (p.Lys1393Arg)
c.3845A>G (p.Lys1282Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117664812A>TCA368982752CFTRc.*297A>T (n.*297A>T)
c.*3802A>T (n.*3802A>T)
c.3905A>T (p.Lys1302Met)
c.*301A>T (n.*301A>T)
c.*741A>T (n.*741A>T)
c.4088A>T (p.Lys1363Met)
c.*749A>T (n.*749A>T)
c.*2463A>T (n.*2463A>T)
c.4082A>T (p.Lys1361Met)
c.*3912A>T (n.*3912A>T)
c.3662A>T (p.Lys1221Met)
n.2256A>T
c.952A>T (n.952A>T)
c.1875A>T (n.1875A>T)
c.670A>T
c.1538A>T
c.3998A>T (p.Lys1333Met)
c.214A>T
c.4178A>T (p.Lys1393Met)
c.3845A>T (p.Lys1282Met)
7g.117664813G>ACA457230466CFTRc.*298G>A (n.*298G>A)
c.*3803G>A (n.*3803G>A)
c.3906G>A (p.Lys1302=)
c.*302G>A (n.*302G>A)
c.*742G>A (n.*742G>A)
c.4089G>A (p.Lys1363=)
c.*750G>A (n.*750G>A)
c.*2464G>A (n.*2464G>A)
c.4083G>A (p.Lys1361=)
c.*3913G>A (n.*3913G>A)
c.3663G>A (p.Lys1221=)
n.2257G>A
c.953G>A (n.953G>A)
c.1876G>A (n.1876G>A)
c.671G>A
c.1539G>A
c.3999G>A (p.Lys1333=)
c.215G>A
c.4179G>A (p.Lys1393=)
c.3846G>A (p.Lys1282=)
 dbSNP
7g.117664813G>CCA368982760CFTRc.*298G>C (n.*298G>C)
c.*3803G>C (n.*3803G>C)
c.3906G>C (p.Lys1302Asn)
c.*302G>C (n.*302G>C)
c.*742G>C (n.*742G>C)
c.4089G>C (p.Lys1363Asn)
c.*750G>C (n.*750G>C)
c.*2464G>C (n.*2464G>C)
c.4083G>C (p.Lys1361Asn)
c.*3913G>C (n.*3913G>C)
c.3663G>C (p.Lys1221Asn)
n.2257G>C
c.953G>C (n.953G>C)
c.1876G>C (n.1876G>C)
c.671G>C
c.1539G>C
c.3999G>C (p.Lys1333Asn)
c.215G>C
c.4179G>C (p.Lys1393Asn)
c.3846G>C (p.Lys1282Asn)
7g.117664813G=CA1737422122CFTRc.*298G= (n.*298G=)
c.*3803G= (n.*3803G=)
c.3906G= (p.Lys1302=)
c.*302G= (n.*302G=)
c.*742G= (n.*742G=)
c.4089G= (p.Lys1363=)
c.*750G= (n.*750G=)
c.*2464G= (n.*2464G=)
c.4083G= (p.Lys1361=)
c.*3913G= (n.*3913G=)
c.3663G= (p.Lys1221=)
n.2257G=
c.953G= (n.953G=)
c.1876G= (n.1876G=)
c.671G=
c.1539G=
c.3999G= (p.Lys1333=)
c.215G=
c.4179G= (p.Lys1393=)
c.3846G= (p.Lys1282=)
7g.117664813G>TCA368982761CFTRc.*298G>T (n.*298G>T)
c.*3803G>T (n.*3803G>T)
c.3906G>T (p.Lys1302Asn)
c.*302G>T (n.*302G>T)
c.*742G>T (n.*742G>T)
c.4089G>T (p.Lys1363Asn)
c.*750G>T (n.*750G>T)
c.*2464G>T (n.*2464G>T)
c.4083G>T (p.Lys1361Asn)
c.*3913G>T (n.*3913G>T)
c.3663G>T (p.Lys1221Asn)
n.2257G>T
c.953G>T (n.953G>T)
c.1876G>T (n.1876G>T)
c.671G>T
c.1539G>T
c.3999G>T (p.Lys1333Asn)
c.215G>T
c.4179G>T (p.Lys1393Asn)
c.3846G>T (p.Lys1282Asn)
7g.117664814delCA2579000416CFTRc.*299del (n.*299del)
c.*3804del (n.*3804del)
c.3907del (p.Ala1303ArgfsTer16)
c.*303del (n.*303del)
c.*743del (n.*743del)
c.4090del (p.Ala1364ArgfsTer16)
c.*751del (n.*751del)
c.*2465del (n.*2465del)
c.4084del (p.Ala1362ArgfsTer16)
c.*3914del (n.*3914del)
c.3664del (p.Ala1222ArgfsTer16)
n.2258del
c.954del (n.954del)
c.1877del (n.1877del)
c.672del
c.1540del
c.4000del (p.Ala1334ArgfsTer16)
c.216del
c.4180del (p.Ala1394ArgfsTer16)
c.3847del (p.Ala1283ArgfsTer16)
7g.117664814G>ACA368982763CFTRc.*299G>A (n.*299G>A)
c.*3804G>A (n.*3804G>A)
c.3907G>A (p.Ala1303Thr)
c.*303G>A (n.*303G>A)
c.*743G>A (n.*743G>A)
c.4090G>A (p.Ala1364Thr)
c.*751G>A (n.*751G>A)
c.*2465G>A (n.*2465G>A)
c.4084G>A (p.Ala1362Thr)
c.*3914G>A (n.*3914G>A)
c.3664G>A (p.Ala1222Thr)
n.2258G>A
c.954G>A (n.954G>A)
c.1877G>A (n.1877G>A)
c.672G>A
c.1540G>A
c.4000G>A (p.Ala1334Thr)
c.216G>A
c.4180G>A (p.Ala1394Thr)
c.3847G>A (p.Ala1283Thr)
7g.117664814G>CCA368982767CFTRc.*299G>C (n.*299G>C)
c.*3804G>C (n.*3804G>C)
c.3907G>C (p.Ala1303Pro)
c.*303G>C (n.*303G>C)
c.*743G>C (n.*743G>C)
c.4090G>C (p.Ala1364Pro)
c.*751G>C (n.*751G>C)
c.*2465G>C (n.*2465G>C)
c.4084G>C (p.Ala1362Pro)
c.*3914G>C (n.*3914G>C)
c.3664G>C (p.Ala1222Pro)
n.2258G>C
c.954G>C (n.954G>C)
c.1877G>C (n.1877G>C)
c.672G>C
c.1540G>C
c.4000G>C (p.Ala1334Pro)
c.216G>C
c.4180G>C (p.Ala1394Pro)
c.3847G>C (p.Ala1283Pro)
7g.117664814G>TCA368982770CFTRc.*299G>T (n.*299G>T)
c.*3804G>T (n.*3804G>T)
c.3907G>T (p.Ala1303Ser)
c.*303G>T (n.*303G>T)
c.*743G>T (n.*743G>T)
c.4090G>T (p.Ala1364Ser)
c.*751G>T (n.*751G>T)
c.*2465G>T (n.*2465G>T)
c.4084G>T (p.Ala1362Ser)
c.*3914G>T (n.*3914G>T)
c.3664G>T (p.Ala1222Ser)
n.2258G>T
c.954G>T (n.954G>T)
c.1877G>T (n.1877G>T)
c.672G>T
c.1540G>T
c.4000G>T (p.Ala1334Ser)
c.216G>T
c.4180G>T (p.Ala1394Ser)
c.3847G>T (p.Ala1283Ser)

Number of alleles fetched