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.117664747delCA2582341938CFTRc.*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
7g.117664747T>ACA368982279CFTRc.*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)
7g.117664747T>CCA457230294CFTRc.*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=)
7g.117664747T>GCA368982285CFTRc.*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)
7g.117664747_117664748delinsTGCA1737421868CFTRc.*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=)
7g.117664748G>ACA368982293CFTRc.*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
7g.117664748G>CCA368982303CFTRc.*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)
7g.117664748G>TCA368982307CFTRc.*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)
7g.117664752dupCA2684649158CFTRc.*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
7g.117664749_117664752dupCA327384CFTRc.*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
7g.117664752delCA913189946CFTRc.*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
7g.117664749G>ACA368982319CFTRc.*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
7g.117664749G>CCA368982323CFTRc.*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)
7g.117664749G=CA1737421876CFTRc.*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=)
7g.117664749G>TCA368982326CFTRc.*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
7g.117664750G>ACA457230295CFTRc.*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
7g.117664750G>CCA457230296CFTRc.*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
7g.117664750G=CA1737421881CFTRc.*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=)
7g.117664750G>TCA457230297CFTRc.*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
7g.117664751G>ACA4451610CFTRc.*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
7g.117664751G>CCA368982333CFTRc.*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)
7g.117664751G=CA1737421885CFTRc.*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=)
7g.117664751G>TCA368982336CFTRc.*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)
7g.117664752G>ACA4451611CFTRc.*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
7g.117664752G>CCA4451612CFTRc.*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
7g.117664752G=CA1737421891CFTRc.*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=)
7g.117664752G>TCA368982349CFTRc.*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
7g.117664753C>ACA457230298CFTRc.*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=)
7g.117664753C>GCA457230299CFTRc.*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=)
7g.117664753C>TCA457230300CFTRc.*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
7g.117664754T>ACA368982354CFTRc.*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)
7g.117664754T>CCA368982363CFTRc.*239T>C (n.*239T>C)
c.*3744T>C (n.*3744T>C)
c.3847T>C (p.Cys1283Arg)
c.*243T>C (n.*243T>C)
c.*683T>C (n.*683T>C)
c.4030T>C (p.Cys1344Arg)
c.*691T>C (n.*691T>C)
c.*2405T>C (n.*2405T>C)
c.4024T>C (p.Cys1342Arg)
c.*3854T>C (n.*3854T>C)
c.3604T>C (p.Cys1202Arg)
n.2198T>C
c.894T>C (n.894T>C)
c.1817T>C (n.1817T>C)
c.612T>C
c.1480T>C
c.3940T>C (p.Cys1314Arg)
c.156T>C
c.4120T>C (p.Cys1374Arg)
c.3787T>C (p.Cys1263Arg)
7g.117664754T>GCA368982358CFTRc.*239T>G (n.*239T>G)
c.*3744T>G (n.*3744T>G)
c.3847T>G (p.Cys1283Gly)
c.*243T>G (n.*243T>G)
c.*683T>G (n.*683T>G)
c.4030T>G (p.Cys1344Gly)
c.*691T>G (n.*691T>G)
c.*2405T>G (n.*2405T>G)
c.4024T>G (p.Cys1342Gly)
c.*3854T>G (n.*3854T>G)
c.3604T>G (p.Cys1202Gly)
n.2198T>G
c.894T>G (n.894T>G)
c.1817T>G (n.1817T>G)
c.612T>G
c.1480T>G
c.3940T>G (p.Cys1314Gly)
c.156T>G
c.4120T>G (p.Cys1374Gly)
c.3787T>G (p.Cys1263Gly)
 ClinVar dbSNP gnomAD v4
7g.117664754T=CA1737421899CFTRc.*239T= (n.*239T=)
c.*3744T= (n.*3744T=)
c.3847T= (p.Cys1283=)
c.*243T= (n.*243T=)
c.*683T= (n.*683T=)
c.4030T= (p.Cys1344=)
c.*691T= (n.*691T=)
c.*2405T= (n.*2405T=)
c.4024T= (p.Cys1342=)
c.*3854T= (n.*3854T=)
c.3604T= (p.Cys1202=)
n.2198T=
c.894T= (n.894T=)
c.1817T= (n.1817T=)
c.612T=
c.1480T=
c.3940T= (p.Cys1314=)
c.156T=
c.4120T= (p.Cys1374=)
c.3787T= (p.Cys1263=)
7g.117664755G>ACA368982368CFTRc.*240G>A (n.*240G>A)
c.*3745G>A (n.*3745G>A)
c.3848G>A (p.Cys1283Tyr)
c.*244G>A (n.*244G>A)
c.*684G>A (n.*684G>A)
c.4031G>A (p.Cys1344Tyr)
c.*692G>A (n.*692G>A)
c.*2406G>A (n.*2406G>A)
c.4025G>A (p.Cys1342Tyr)
c.*3855G>A (n.*3855G>A)
c.3605G>A (p.Cys1202Tyr)
n.2199G>A
c.895G>A (n.895G>A)
c.1818G>A (n.1818G>A)
c.613G>A
c.1481G>A
c.3941G>A (p.Cys1314Tyr)
c.157G>A
c.4121G>A (p.Cys1374Tyr)
c.3788G>A (p.Cys1263Tyr)
7g.117664755G>CCA4451613CFTRc.*240G>C (n.*240G>C)
c.*3745G>C (n.*3745G>C)
c.3848G>C (p.Cys1283Ser)
c.*244G>C (n.*244G>C)
c.*684G>C (n.*684G>C)
c.4031G>C (p.Cys1344Ser)
c.*692G>C (n.*692G>C)
c.*2406G>C (n.*2406G>C)
c.4025G>C (p.Cys1342Ser)
c.*3855G>C (n.*3855G>C)
c.3605G>C (p.Cys1202Ser)
n.2199G>C
c.895G>C (n.895G>C)
c.1818G>C (n.1818G>C)
c.613G>C
c.1481G>C
c.3941G>C (p.Cys1314Ser)
c.157G>C
c.4121G>C (p.Cys1374Ser)
c.3788G>C (p.Cys1263Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117664755G=CA1737421904CFTRc.*240G= (n.*240G=)
c.*3745G= (n.*3745G=)
c.3848G= (p.Cys1283=)
c.*244G= (n.*244G=)
c.*684G= (n.*684G=)
c.4031G= (p.Cys1344=)
c.*692G= (n.*692G=)
c.*2406G= (n.*2406G=)
c.4025G= (p.Cys1342=)
c.*3855G= (n.*3855G=)
c.3605G= (p.Cys1202=)
n.2199G=
c.895G= (n.895G=)
c.1818G= (n.1818G=)
c.613G=
c.1481G=
c.3941G= (p.Cys1314=)
c.157G=
c.4121G= (p.Cys1374=)
c.3788G= (p.Cys1263=)
7g.117664755G>TCA368982374CFTRc.*240G>T (n.*240G>T)
c.*3745G>T (n.*3745G>T)
c.3848G>T (p.Cys1283Phe)
c.*244G>T (n.*244G>T)
c.*684G>T (n.*684G>T)
c.4031G>T (p.Cys1344Phe)
c.*692G>T (n.*692G>T)
c.*2406G>T (n.*2406G>T)
c.4025G>T (p.Cys1342Phe)
c.*3855G>T (n.*3855G>T)
c.3605G>T (p.Cys1202Phe)
n.2199G>T
c.895G>T (n.895G>T)
c.1818G>T (n.1818G>T)
c.613G>T
c.1481G>T
c.3941G>T (p.Cys1314Phe)
c.157G>T
c.4121G>T (p.Cys1374Phe)
c.3788G>T (p.Cys1263Phe)
7g.117664756T>ACA368982380CFTRc.*241T>A (n.*241T>A)
c.*3746T>A (n.*3746T>A)
c.3849T>A (p.Cys1283Ter)
c.*245T>A (n.*245T>A)
c.*685T>A (n.*685T>A)
c.4032T>A (p.Cys1344Ter)
c.*693T>A (n.*693T>A)
c.*2407T>A (n.*2407T>A)
c.4026T>A (p.Cys1342Ter)
c.*3856T>A (n.*3856T>A)
c.3606T>A (p.Cys1202Ter)
n.2200T>A
c.896T>A (n.896T>A)
c.1819T>A (n.1819T>A)
c.614T>A
c.1482T>A
c.3942T>A (p.Cys1314Ter)
c.158T>A
c.4122T>A (p.Cys1374Ter)
c.3789T>A (p.Cys1263Ter)
 ClinVar
7g.117664756T>CCA457230301CFTRc.*241T>C (n.*241T>C)
c.*3746T>C (n.*3746T>C)
c.3849T>C (p.Cys1283=)
c.*245T>C (n.*245T>C)
c.*685T>C (n.*685T>C)
c.4032T>C (p.Cys1344=)
c.*693T>C (n.*693T>C)
c.*2407T>C (n.*2407T>C)
c.4026T>C (p.Cys1342=)
c.*3856T>C (n.*3856T>C)
c.3606T>C (p.Cys1202=)
n.2200T>C
c.896T>C (n.896T>C)
c.1819T>C (n.1819T>C)
c.614T>C
c.1482T>C
c.3942T>C (p.Cys1314=)
c.158T>C
c.4122T>C (p.Cys1374=)
c.3789T>C (p.Cys1263=)
7g.117664756T>GCA368982383CFTRc.*241T>G (n.*241T>G)
c.*3746T>G (n.*3746T>G)
c.3849T>G (p.Cys1283Trp)
c.*245T>G (n.*245T>G)
c.*685T>G (n.*685T>G)
c.4032T>G (p.Cys1344Trp)
c.*693T>G (n.*693T>G)
c.*2407T>G (n.*2407T>G)
c.4026T>G (p.Cys1342Trp)
c.*3856T>G (n.*3856T>G)
c.3606T>G (p.Cys1202Trp)
n.2200T>G
c.896T>G (n.896T>G)
c.1819T>G (n.1819T>G)
c.614T>G
c.1482T>G
c.3942T>G (p.Cys1314Trp)
c.158T>G
c.4122T>G (p.Cys1374Trp)
c.3789T>G (p.Cys1263Trp)
7g.117664757G>ACA368982388CFTRc.*242G>A (n.*242G>A)
c.*3747G>A (n.*3747G>A)
c.3850G>A (p.Val1284Ile)
c.*246G>A (n.*246G>A)
c.*686G>A (n.*686G>A)
c.4033G>A (p.Val1345Ile)
c.*694G>A (n.*694G>A)
c.*2408G>A (n.*2408G>A)
c.4027G>A (p.Val1343Ile)
c.*3857G>A (n.*3857G>A)
c.3607G>A (p.Val1203Ile)
n.2201G>A
c.897G>A (n.897G>A)
c.1820G>A (n.1820G>A)
c.615G>A
c.1483G>A
c.3943G>A (p.Val1315Ile)
c.159G>A
c.4123G>A (p.Val1375Ile)
c.3790G>A (p.Val1264Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117664757G>CCA368982391CFTRc.*242G>C (n.*242G>C)
c.*3747G>C (n.*3747G>C)
c.3850G>C (p.Val1284Leu)
c.*246G>C (n.*246G>C)
c.*686G>C (n.*686G>C)
c.4033G>C (p.Val1345Leu)
c.*694G>C (n.*694G>C)
c.*2408G>C (n.*2408G>C)
c.4027G>C (p.Val1343Leu)
c.*3857G>C (n.*3857G>C)
c.3607G>C (p.Val1203Leu)
n.2201G>C
c.897G>C (n.897G>C)
c.1820G>C (n.1820G>C)
c.615G>C
c.1483G>C
c.3943G>C (p.Val1315Leu)
c.159G>C
c.4123G>C (p.Val1375Leu)
c.3790G>C (p.Val1264Leu)
7g.117664757G=CA1737421909CFTRc.*242G= (n.*242G=)
c.*3747G= (n.*3747G=)
c.3850G= (p.Val1284=)
c.*246G= (n.*246G=)
c.*686G= (n.*686G=)
c.4033G= (p.Val1345=)
c.*694G= (n.*694G=)
c.*2408G= (n.*2408G=)
c.4027G= (p.Val1343=)
c.*3857G= (n.*3857G=)
c.3607G= (p.Val1203=)
n.2201G=
c.897G= (n.897G=)
c.1820G= (n.1820G=)
c.615G=
c.1483G=
c.3943G= (p.Val1315=)
c.159G=
c.4123G= (p.Val1375=)
c.3790G= (p.Val1264=)
7g.117664757G>TCA368982392CFTRc.*242G>T (n.*242G>T)
c.*3747G>T (n.*3747G>T)
c.3850G>T (p.Val1284Phe)
c.*246G>T (n.*246G>T)
c.*686G>T (n.*686G>T)
c.4033G>T (p.Val1345Phe)
c.*694G>T (n.*694G>T)
c.*2408G>T (n.*2408G>T)
c.4027G>T (p.Val1343Phe)
c.*3857G>T (n.*3857G>T)
c.3607G>T (p.Val1203Phe)
n.2201G>T
c.897G>T (n.897G>T)
c.1820G>T (n.1820G>T)
c.615G>T
c.1483G>T
c.3943G>T (p.Val1315Phe)
c.159G>T
c.4123G>T (p.Val1375Phe)
c.3790G>T (p.Val1264Phe)

Number of alleles fetched