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.117665515_117665517delinsTTCCA1737422887CFTRc.*402_*404delinsTTC (n.*402_*404delinsTTC)
c.*3907_*3909delinsTTC (n.*3907_*3909delinsTTC)
c.4010_4012delinsTTC (p.Ile1337=)
c.*406_*408delinsTTC (n.*406_*408delinsTTC)
c.*846_*848delinsTTC (n.*846_*848delinsTTC)
c.4193_4195delinsTTC (p.Ile1398=)
c.*854_*856delinsTTC (n.*854_*856delinsTTC)
c.*2568_*2570delinsTTC (n.*2568_*2570delinsTTC)
c.4187_4189delinsTTC (p.Ile1396=)
c.*4017_*4019delinsTTC (n.*4017_*4019delinsTTC)
c.3767_3769delinsTTC (p.Ile1256=)
n.2361_2363delinsTTC
c.1057_1059delinsTTC (n.1057_1059delinsTTC)
c.1980_1982delinsTTC (n.1980_1982delinsTTC)
c.775_777delinsTTC
c.1643_1645delinsTTC
c.4103_4105delinsTTC (p.Ile1368=)
c.319_321delinsTTC
c.4283_4285delinsTTC (p.Ile1428=)
c.3950_3952delinsTTC (p.Ile1317=)
7g.117665516T>ACA457230835CFTRc.*403T>A (n.*403T>A)
c.*3908T>A (n.*3908T>A)
c.4011T>A (p.Ile1337=)
c.*407T>A (n.*407T>A)
c.*847T>A (n.*847T>A)
c.4194T>A (p.Ile1398=)
c.*855T>A (n.*855T>A)
c.*2569T>A (n.*2569T>A)
c.4188T>A (p.Ile1396=)
c.*4018T>A (n.*4018T>A)
c.3768T>A (p.Ile1256=)
n.2362T>A
c.1058T>A (n.1058T>A)
c.1981T>A (n.1981T>A)
c.776T>A
c.1644T>A
c.4104T>A (p.Ile1368=)
c.320T>A
c.4284T>A (p.Ile1428=)
c.3951T>A (p.Ile1317=)
7g.117665516T>CCA457230836CFTRc.*403T>C (n.*403T>C)
c.*3908T>C (n.*3908T>C)
c.4011T>C (p.Ile1337=)
c.*407T>C (n.*407T>C)
c.*847T>C (n.*847T>C)
c.4194T>C (p.Ile1398=)
c.*855T>C (n.*855T>C)
c.*2569T>C (n.*2569T>C)
c.4188T>C (p.Ile1396=)
c.*4018T>C (n.*4018T>C)
c.3768T>C (p.Ile1256=)
n.2362T>C
c.1058T>C (n.1058T>C)
c.1981T>C (n.1981T>C)
c.776T>C
c.1644T>C
c.4104T>C (p.Ile1368=)
c.320T>C
c.4284T>C (p.Ile1428=)
c.3951T>C (p.Ile1317=)
ClinVar dbSNP gnomAD v4
7g.117665516T>GCA368983610CFTRc.*403T>G (n.*403T>G)
c.*3908T>G (n.*3908T>G)
c.4011T>G (p.Ile1337Met)
c.*407T>G (n.*407T>G)
c.*847T>G (n.*847T>G)
c.4194T>G (p.Ile1398Met)
c.*855T>G (n.*855T>G)
c.*2569T>G (n.*2569T>G)
c.4188T>G (p.Ile1396Met)
c.*4018T>G (n.*4018T>G)
c.3768T>G (p.Ile1256Met)
n.2362T>G
c.1058T>G (n.1058T>G)
c.1981T>G (n.1981T>G)
c.776T>G
c.1644T>G
c.4104T>G (p.Ile1368Met)
c.320T>G
c.4284T>G (p.Ile1428Met)
c.3951T>G (p.Ile1317Met)
gnomAD v4
7g.117665519_117665520delCA327443CFTRc.*406_*407del (n.*406_*407del)
c.*3911_*3912del (n.*3911_*3912del)
c.4014_4015del (p.Cys1339Ter)
c.*410_*411del (n.*410_*411del)
c.*850_*851del (n.*850_*851del)
c.4197_4198del (p.Cys1400Ter)
c.*858_*859del (n.*858_*859del)
c.*2572_*2573del (n.*2572_*2573del)
c.4191_4192del (p.Cys1398Ter)
c.*4021_*4022del (n.*4021_*4022del)
c.3771_3772del (p.Cys1258Ter)
n.2365_2366del
c.1061_1062del (n.1061_1062del)
c.1984_1985del (n.1984_1985del)
c.779_780del
c.1647_1648del
c.4107_4108del (p.Cys1370Ter)
c.323_324del
c.4287_4288del (p.Cys1430Ter)
c.3954_3955del (p.Cys1319Ter)
dbSNP gnomAD v4
7g.117665517C>ACA368983617CFTRc.*404C>A (n.*404C>A)
c.*3909C>A (n.*3909C>A)
c.4012C>A (p.Leu1338Ile)
c.*408C>A (n.*408C>A)
c.*848C>A (n.*848C>A)
c.4195C>A (p.Leu1399Ile)
c.*856C>A (n.*856C>A)
c.*2570C>A (n.*2570C>A)
c.4189C>A (p.Leu1397Ile)
c.*4019C>A (n.*4019C>A)
c.3769C>A (p.Leu1257Ile)
n.2363C>A
c.1059C>A (n.1059C>A)
c.1982C>A (n.1982C>A)
c.777C>A
c.1645C>A
c.4105C>A (p.Leu1369Ile)
c.321C>A
c.4285C>A (p.Leu1429Ile)
c.3952C>A (p.Leu1318Ile)
ClinVar
7g.117665517C=CA1737422896CFTRc.*404C= (n.*404C=)
c.*3909C= (n.*3909C=)
c.4012C= (p.Leu1338=)
c.*408C= (n.*408C=)
c.*848C= (n.*848C=)
c.4195C= (p.Leu1399=)
c.*856C= (n.*856C=)
c.*2570C= (n.*2570C=)
c.4189C= (p.Leu1397=)
c.*4019C= (n.*4019C=)
c.3769C= (p.Leu1257=)
n.2363C=
c.1059C= (n.1059C=)
c.1982C= (n.1982C=)
c.777C=
c.1645C=
c.4105C= (p.Leu1369=)
c.321C=
c.4285C= (p.Leu1429=)
c.3952C= (p.Leu1318=)
7g.117665517C>GCA368983619CFTRc.*404C>G (n.*404C>G)
c.*3909C>G (n.*3909C>G)
c.4012C>G (p.Leu1338Val)
c.*408C>G (n.*408C>G)
c.*848C>G (n.*848C>G)
c.4195C>G (p.Leu1399Val)
c.*856C>G (n.*856C>G)
c.*2570C>G (n.*2570C>G)
c.4189C>G (p.Leu1397Val)
c.*4019C>G (n.*4019C>G)
c.3769C>G (p.Leu1257Val)
n.2363C>G
c.1059C>G (n.1059C>G)
c.1982C>G (n.1982C>G)
c.777C>G
c.1645C>G
c.4105C>G (p.Leu1369Val)
c.321C>G
c.4285C>G (p.Leu1429Val)
c.3952C>G (p.Leu1318Val)
ClinVar dbSNP
7g.117665517C>TCA368983621CFTRc.*404C>T (n.*404C>T)
c.*3909C>T (n.*3909C>T)
c.4012C>T (p.Leu1338Phe)
c.*408C>T (n.*408C>T)
c.*848C>T (n.*848C>T)
c.4195C>T (p.Leu1399Phe)
c.*856C>T (n.*856C>T)
c.*2570C>T (n.*2570C>T)
c.4189C>T (p.Leu1397Phe)
c.*4019C>T (n.*4019C>T)
c.3769C>T (p.Leu1257Phe)
n.2363C>T
c.1059C>T (n.1059C>T)
c.1982C>T (n.1982C>T)
c.777C>T
c.1645C>T
c.4105C>T (p.Leu1369Phe)
c.321C>T
c.4285C>T (p.Leu1429Phe)
c.3952C>T (p.Leu1318Phe)
7g.117665518T>ACA368983628CFTRc.*405T>A (n.*405T>A)
c.*3910T>A (n.*3910T>A)
c.4013T>A (p.Leu1338His)
c.*409T>A (n.*409T>A)
c.*849T>A (n.*849T>A)
c.4196T>A (p.Leu1399His)
c.*857T>A (n.*857T>A)
c.*2571T>A (n.*2571T>A)
c.4190T>A (p.Leu1397His)
c.*4020T>A (n.*4020T>A)
c.3770T>A (p.Leu1257His)
n.2364T>A
c.1060T>A (n.1060T>A)
c.1983T>A (n.1983T>A)
c.778T>A
c.1646T>A
c.4106T>A (p.Leu1369His)
c.322T>A
c.4286T>A (p.Leu1429His)
c.3953T>A (p.Leu1318His)
7g.117665518T>CCA368983627CFTRc.*405T>C (n.*405T>C)
c.*3910T>C (n.*3910T>C)
c.4013T>C (p.Leu1338Pro)
c.*409T>C (n.*409T>C)
c.*849T>C (n.*849T>C)
c.4196T>C (p.Leu1399Pro)
c.*857T>C (n.*857T>C)
c.*2571T>C (n.*2571T>C)
c.4190T>C (p.Leu1397Pro)
c.*4020T>C (n.*4020T>C)
c.3770T>C (p.Leu1257Pro)
n.2364T>C
c.1060T>C (n.1060T>C)
c.1983T>C (n.1983T>C)
c.778T>C
c.1646T>C
c.4106T>C (p.Leu1369Pro)
c.322T>C
c.4286T>C (p.Leu1429Pro)
c.3953T>C (p.Leu1318Pro)
7g.117665518T>GCA368983625CFTRc.*405T>G (n.*405T>G)
c.*3910T>G (n.*3910T>G)
c.4013T>G (p.Leu1338Arg)
c.*409T>G (n.*409T>G)
c.*849T>G (n.*849T>G)
c.4196T>G (p.Leu1399Arg)
c.*857T>G (n.*857T>G)
c.*2571T>G (n.*2571T>G)
c.4190T>G (p.Leu1397Arg)
c.*4020T>G (n.*4020T>G)
c.3770T>G (p.Leu1257Arg)
n.2364T>G
c.1060T>G (n.1060T>G)
c.1983T>G (n.1983T>G)
c.778T>G
c.1646T>G
c.4106T>G (p.Leu1369Arg)
c.322T>G
c.4286T>G (p.Leu1429Arg)
c.3953T>G (p.Leu1318Arg)
7g.117665519C>ACA457230838CFTRc.*406C>A (n.*406C>A)
c.*3911C>A (n.*3911C>A)
c.4014C>A (p.Leu1338=)
c.*410C>A (n.*410C>A)
c.*850C>A (n.*850C>A)
c.4197C>A (p.Leu1399=)
c.*858C>A (n.*858C>A)
c.*2572C>A (n.*2572C>A)
c.4191C>A (p.Leu1397=)
c.*4021C>A (n.*4021C>A)
c.3771C>A (p.Leu1257=)
n.2365C>A
c.1061C>A (n.1061C>A)
c.1984C>A (n.1984C>A)
c.779C>A
c.1647C>A
c.4107C>A (p.Leu1369=)
c.323C>A
c.4287C>A (p.Leu1429=)
c.3954C>A (p.Leu1318=)
7g.117665519C=CA1737422905CFTRc.*406C= (n.*406C=)
c.*3911C= (n.*3911C=)
c.4014C= (p.Leu1338=)
c.*410C= (n.*410C=)
c.*850C= (n.*850C=)
c.4197C= (p.Leu1399=)
c.*858C= (n.*858C=)
c.*2572C= (n.*2572C=)
c.4191C= (p.Leu1397=)
c.*4021C= (n.*4021C=)
c.3771C= (p.Leu1257=)
n.2365C=
c.1061C= (n.1061C=)
c.1984C= (n.1984C=)
c.779C=
c.1647C=
c.4107C= (p.Leu1369=)
c.323C=
c.4287C= (p.Leu1429=)
c.3954C= (p.Leu1318=)
7g.117665519C>GCA4451659CFTRc.*406C>G (n.*406C>G)
c.*3911C>G (n.*3911C>G)
c.4014C>G (p.Leu1338=)
c.*410C>G (n.*410C>G)
c.*850C>G (n.*850C>G)
c.4197C>G (p.Leu1399=)
c.*858C>G (n.*858C>G)
c.*2572C>G (n.*2572C>G)
c.4191C>G (p.Leu1397=)
c.*4021C>G (n.*4021C>G)
c.3771C>G (p.Leu1257=)
n.2365C>G
c.1061C>G (n.1061C>G)
c.1984C>G (n.1984C>G)
c.779C>G
c.1647C>G
c.4107C>G (p.Leu1369=)
c.323C>G
c.4287C>G (p.Leu1429=)
c.3954C>G (p.Leu1318=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117665519C>TCA4451660CFTRc.*406C>T (n.*406C>T)
c.*3911C>T (n.*3911C>T)
c.4014C>T (p.Leu1338=)
c.*410C>T (n.*410C>T)
c.*850C>T (n.*850C>T)
c.4197C>T (p.Leu1399=)
c.*858C>T (n.*858C>T)
c.*2572C>T (n.*2572C>T)
c.4191C>T (p.Leu1397=)
c.*4021C>T (n.*4021C>T)
c.3771C>T (p.Leu1257=)
n.2365C>T
c.1061C>T (n.1061C>T)
c.1984C>T (n.1984C>T)
c.779C>T
c.1647C>T
c.4107C>T (p.Leu1369=)
c.323C>T
c.4287C>T (p.Leu1429=)
c.3954C>T (p.Leu1318=)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
7g.117665519_117665521delinsCTGCA1737422911CFTRc.*406_*408delinsCTG (n.*406_*408delinsCTG)
c.*3911_*3913delinsCTG (n.*3911_*3913delinsCTG)
c.4014_4016delinsCTG (p.Leu1338=)
c.*410_*412delinsCTG (n.*410_*412delinsCTG)
c.*850_*852delinsCTG (n.*850_*852delinsCTG)
c.4197_4199delinsCTG (p.Leu1399=)
c.*858_*860delinsCTG (n.*858_*860delinsCTG)
c.*2572_*2574delinsCTG (n.*2572_*2574delinsCTG)
c.4191_4193delinsCTG (p.Leu1397=)
c.*4021_*4023delinsCTG (n.*4021_*4023delinsCTG)
c.3771_3773delinsCTG (p.Leu1257=)
n.2365_2367delinsCTG
c.1061_1063delinsCTG (n.1061_1063delinsCTG)
c.1984_1986delinsCTG (n.1984_1986delinsCTG)
c.779_781delinsCTG
c.1647_1649delinsCTG
c.4107_4109delinsCTG (p.Leu1369=)
c.323_325delinsCTG
c.4287_4289delinsCTG (p.Leu1429=)
c.3954_3956delinsCTG (p.Leu1318=)
7g.117665520T>ACA368983633CFTRc.*407T>A (n.*407T>A)
c.*3912T>A (n.*3912T>A)
c.4015T>A (p.Cys1339Ser)
c.*411T>A (n.*411T>A)
c.*851T>A (n.*851T>A)
c.4198T>A (p.Cys1400Ser)
c.*859T>A (n.*859T>A)
c.*2573T>A (n.*2573T>A)
c.4192T>A (p.Cys1398Ser)
c.*4022T>A (n.*4022T>A)
c.3772T>A (p.Cys1258Ser)
n.2366T>A
c.1062T>A (n.1062T>A)
c.1985T>A (n.1985T>A)
c.780T>A
c.1648T>A
c.4108T>A (p.Cys1370Ser)
c.324T>A
c.4288T>A (p.Cys1430Ser)
c.3955T>A (p.Cys1319Ser)
7g.117665520T>CCA368983635CFTRc.*407T>C (n.*407T>C)
c.*3912T>C (n.*3912T>C)
c.4015T>C (p.Cys1339Arg)
c.*411T>C (n.*411T>C)
c.*851T>C (n.*851T>C)
c.4198T>C (p.Cys1400Arg)
c.*859T>C (n.*859T>C)
c.*2573T>C (n.*2573T>C)
c.4192T>C (p.Cys1398Arg)
c.*4022T>C (n.*4022T>C)
c.3772T>C (p.Cys1258Arg)
n.2366T>C
c.1062T>C (n.1062T>C)
c.1985T>C (n.1985T>C)
c.780T>C
c.1648T>C
c.4108T>C (p.Cys1370Arg)
c.324T>C
c.4288T>C (p.Cys1430Arg)
c.3955T>C (p.Cys1319Arg)
dbSNP gnomAD v4
7g.117665520T>GCA368983638CFTRc.*407T>G (n.*407T>G)
c.*3912T>G (n.*3912T>G)
c.4015T>G (p.Cys1339Gly)
c.*411T>G (n.*411T>G)
c.*851T>G (n.*851T>G)
c.4198T>G (p.Cys1400Gly)
c.*859T>G (n.*859T>G)
c.*2573T>G (n.*2573T>G)
c.4192T>G (p.Cys1398Gly)
c.*4022T>G (n.*4022T>G)
c.3772T>G (p.Cys1258Gly)
n.2366T>G
c.1062T>G (n.1062T>G)
c.1985T>G (n.1985T>G)
c.780T>G
c.1648T>G
c.4108T>G (p.Cys1370Gly)
c.324T>G
c.4288T>G (p.Cys1430Gly)
c.3955T>G (p.Cys1319Gly)
7g.117665520T=CA1737422920CFTRc.*407T= (n.*407T=)
c.*3912T= (n.*3912T=)
c.4015T= (p.Cys1339=)
c.*411T= (n.*411T=)
c.*851T= (n.*851T=)
c.4198T= (p.Cys1400=)
c.*859T= (n.*859T=)
c.*2573T= (n.*2573T=)
c.4192T= (p.Cys1398=)
c.*4022T= (n.*4022T=)
c.3772T= (p.Cys1258=)
n.2366T=
c.1062T= (n.1062T=)
c.1985T= (n.1985T=)
c.780T=
c.1648T=
c.4108T= (p.Cys1370=)
c.324T=
c.4288T= (p.Cys1430=)
c.3955T= (p.Cys1319=)
7g.117665520_117665521delinsTGCA1737422919CFTRc.*407_*408delinsTG (n.*407_*408delinsTG)
c.*3912_*3913delinsTG (n.*3912_*3913delinsTG)
c.4015_4016delinsTG (p.Cys1339=)
c.*411_*412delinsTG (n.*411_*412delinsTG)
c.*851_*852delinsTG (n.*851_*852delinsTG)
c.4198_4199delinsTG (p.Cys1400=)
c.*859_*860delinsTG (n.*859_*860delinsTG)
c.*2573_*2574delinsTG (n.*2573_*2574delinsTG)
c.4192_4193delinsTG (p.Cys1398=)
c.*4022_*4023delinsTG (n.*4022_*4023delinsTG)
c.3772_3773delinsTG (p.Cys1258=)
n.2366_2367delinsTG
c.1062_1063delinsTG (n.1062_1063delinsTG)
c.1985_1986delinsTG (n.1985_1986delinsTG)
c.780_781delinsTG
c.1648_1649delinsTG
c.4108_4109delinsTG (p.Cys1370=)
c.324_325delinsTG
c.4288_4289delinsTG (p.Cys1430=)
c.3955_3956delinsTG (p.Cys1319=)
7g.117665522_117665523delCA327446CFTRc.*409_*410del (n.*409_*410del)
c.*3914_*3915del (n.*3914_*3915del)
c.4017_4018del (p.Cys1339Ter)
c.*413_*414del (n.*413_*414del)
c.*853_*854del (n.*853_*854del)
c.4200_4201del (p.Cys1400Ter)
c.*861_*862del (n.*861_*862del)
c.*2575_*2576del (n.*2575_*2576del)
c.4194_4195del (p.Cys1398Ter)
c.*4024_*4025del (n.*4024_*4025del)
c.3774_3775del (p.Cys1258Ter)
n.2368_2369del
c.1064_1065del (n.1064_1065del)
c.1987_1988del (n.1987_1988del)
c.782_783del
c.1650_1651del
c.4110_4111del (p.Cys1370Ter)
c.326_327del
c.4290_4291del (p.Cys1430Ter)
c.3957_3958del (p.Cys1319Ter)
dbSNP
7g.117665521delCA658821705CFTRc.*408del (n.*408del)
c.*3913del (n.*3913del)
c.4016del (p.Cys1339LeufsTer5)
c.*412del (n.*412del)
c.*852del (n.*852del)
c.4199del (p.Cys1400LeufsTer5)
c.*860del (n.*860del)
c.*2574del (n.*2574del)
c.4193del (p.Cys1398LeufsTer5)
c.*4023del (n.*4023del)
c.3773del (p.Cys1258LeufsTer5)
n.2367del
c.1063del (n.1063del)
c.1986del (n.1986del)
c.781del
c.1649del
c.4109del (p.Cys1370LeufsTer5)
c.325del
c.4289del (p.Cys1430LeufsTer5)
c.3956del (p.Cys1319LeufsTer5)
ClinVar dbSNP
7g.117665521G>ACA368983641CFTRc.*408G>A (n.*408G>A)
c.*3913G>A (n.*3913G>A)
c.4016G>A (p.Cys1339Tyr)
c.*412G>A (n.*412G>A)
c.*852G>A (n.*852G>A)
c.4199G>A (p.Cys1400Tyr)
c.*860G>A (n.*860G>A)
c.*2574G>A (n.*2574G>A)
c.4193G>A (p.Cys1398Tyr)
c.*4023G>A (n.*4023G>A)
c.3773G>A (p.Cys1258Tyr)
n.2367G>A
c.1063G>A (n.1063G>A)
c.1986G>A (n.1986G>A)
c.781G>A
c.1649G>A
c.4109G>A (p.Cys1370Tyr)
c.325G>A
c.4289G>A (p.Cys1430Tyr)
c.3956G>A (p.Cys1319Tyr)
7g.117665521G>CCA368983646CFTRc.*408G>C (n.*408G>C)
c.*3913G>C (n.*3913G>C)
c.4016G>C (p.Cys1339Ser)
c.*412G>C (n.*412G>C)
c.*852G>C (n.*852G>C)
c.4199G>C (p.Cys1400Ser)
c.*860G>C (n.*860G>C)
c.*2574G>C (n.*2574G>C)
c.4193G>C (p.Cys1398Ser)
c.*4023G>C (n.*4023G>C)
c.3773G>C (p.Cys1258Ser)
n.2367G>C
c.1063G>C (n.1063G>C)
c.1986G>C (n.1986G>C)
c.781G>C
c.1649G>C
c.4109G>C (p.Cys1370Ser)
c.325G>C
c.4289G>C (p.Cys1430Ser)
c.3956G>C (p.Cys1319Ser)
7g.117665521G>TCA368983644CFTRc.*408G>T (n.*408G>T)
c.*3913G>T (n.*3913G>T)
c.4016G>T (p.Cys1339Phe)
c.*412G>T (n.*412G>T)
c.*852G>T (n.*852G>T)
c.4199G>T (p.Cys1400Phe)
c.*860G>T (n.*860G>T)
c.*2574G>T (n.*2574G>T)
c.4193G>T (p.Cys1398Phe)
c.*4023G>T (n.*4023G>T)
c.3773G>T (p.Cys1258Phe)
n.2367G>T
c.1063G>T (n.1063G>T)
c.1986G>T (n.1986G>T)
c.781G>T
c.1649G>T
c.4109G>T (p.Cys1370Phe)
c.325G>T
c.4289G>T (p.Cys1430Phe)
c.3956G>T (p.Cys1319Phe)
7g.117665522T>ACA368983648CFTRc.*409T>A (n.*409T>A)
c.*3914T>A (n.*3914T>A)
c.4017T>A (p.Cys1339Ter)
c.*413T>A (n.*413T>A)
c.*853T>A (n.*853T>A)
c.4200T>A (p.Cys1400Ter)
c.*861T>A (n.*861T>A)
c.*2575T>A (n.*2575T>A)
c.4194T>A (p.Cys1398Ter)
c.*4024T>A (n.*4024T>A)
c.3774T>A (p.Cys1258Ter)
n.2368T>A
c.1064T>A (n.1064T>A)
c.1987T>A (n.1987T>A)
c.782T>A
c.1650T>A
c.4110T>A (p.Cys1370Ter)
c.326T>A
c.4290T>A (p.Cys1430Ter)
c.3957T>A (p.Cys1319Ter)
7g.117665522T>CCA457230884CFTRc.*409T>C (n.*409T>C)
c.*3914T>C (n.*3914T>C)
c.4017T>C (p.Cys1339=)
c.*413T>C (n.*413T>C)
c.*853T>C (n.*853T>C)
c.4200T>C (p.Cys1400=)
c.*861T>C (n.*861T>C)
c.*2575T>C (n.*2575T>C)
c.4194T>C (p.Cys1398=)
c.*4024T>C (n.*4024T>C)
c.3774T>C (p.Cys1258=)
n.2368T>C
c.1064T>C (n.1064T>C)
c.1987T>C (n.1987T>C)
c.782T>C
c.1650T>C
c.4110T>C (p.Cys1370=)
c.326T>C
c.4290T>C (p.Cys1430=)
c.3957T>C (p.Cys1319=)
7g.117665522T>GCA368983652CFTRc.*409T>G (n.*409T>G)
c.*3914T>G (n.*3914T>G)
c.4017T>G (p.Cys1339Trp)
c.*413T>G (n.*413T>G)
c.*853T>G (n.*853T>G)
c.4200T>G (p.Cys1400Trp)
c.*861T>G (n.*861T>G)
c.*2575T>G (n.*2575T>G)
c.4194T>G (p.Cys1398Trp)
c.*4024T>G (n.*4024T>G)
c.3774T>G (p.Cys1258Trp)
n.2368T>G
c.1064T>G (n.1064T>G)
c.1987T>G (n.1987T>G)
c.782T>G
c.1650T>G
c.4110T>G (p.Cys1370Trp)
c.326T>G
c.4290T>G (p.Cys1430Trp)
c.3957T>G (p.Cys1319Trp)
7g.117665523G>ACA327447CFTRc.*410G>A (n.*410G>A)
c.*3915G>A (n.*3915G>A)
c.4018G>A (p.Glu1340Lys)
c.*414G>A (n.*414G>A)
c.*854G>A (n.*854G>A)
c.4201G>A (p.Glu1401Lys)
c.*862G>A (n.*862G>A)
c.*2576G>A (n.*2576G>A)
c.4195G>A (p.Glu1399Lys)
c.*4025G>A (n.*4025G>A)
c.3775G>A (p.Glu1259Lys)
n.2369G>A
c.1065G>A (n.1065G>A)
c.1988G>A (n.1988G>A)
c.783G>A
c.1651G>A
c.4111G>A (p.Glu1371Lys)
c.327G>A
c.4291G>A (p.Glu1431Lys)
c.3958G>A (p.Glu1320Lys)
ClinVar dbSNP
7g.117665523G>CCA368983655CFTRc.*410G>C (n.*410G>C)
c.*3915G>C (n.*3915G>C)
c.4018G>C (p.Glu1340Gln)
c.*414G>C (n.*414G>C)
c.*854G>C (n.*854G>C)
c.4201G>C (p.Glu1401Gln)
c.*862G>C (n.*862G>C)
c.*2576G>C (n.*2576G>C)
c.4195G>C (p.Glu1399Gln)
c.*4025G>C (n.*4025G>C)
c.3775G>C (p.Glu1259Gln)
n.2369G>C
c.1065G>C (n.1065G>C)
c.1988G>C (n.1988G>C)
c.783G>C
c.1651G>C
c.4111G>C (p.Glu1371Gln)
c.327G>C
c.4291G>C (p.Glu1431Gln)
c.3958G>C (p.Glu1320Gln)
7g.117665523G=CA1737422935CFTRc.*410G= (n.*410G=)
c.*3915G= (n.*3915G=)
c.4018G= (p.Glu1340=)
c.*414G= (n.*414G=)
c.*854G= (n.*854G=)
c.4201G= (p.Glu1401=)
c.*862G= (n.*862G=)
c.*2576G= (n.*2576G=)
c.4195G= (p.Glu1399=)
c.*4025G= (n.*4025G=)
c.3775G= (p.Glu1259=)
n.2369G=
c.1065G= (n.1065G=)
c.1988G= (n.1988G=)
c.783G=
c.1651G=
c.4111G= (p.Glu1371=)
c.327G=
c.4291G= (p.Glu1431=)
c.3958G= (p.Glu1320=)
7g.117665523G>TCA327449CFTRc.*410G>T (n.*410G>T)
c.*3915G>T (n.*3915G>T)
c.4018G>T (p.Glu1340Ter)
c.*414G>T (n.*414G>T)
c.*854G>T (n.*854G>T)
c.4201G>T (p.Glu1401Ter)
c.*862G>T (n.*862G>T)
c.*2576G>T (n.*2576G>T)
c.4195G>T (p.Glu1399Ter)
c.*4025G>T (n.*4025G>T)
c.3775G>T (p.Glu1259Ter)
n.2369G>T
c.1065G>T (n.1065G>T)
c.1988G>T (n.1988G>T)
c.783G>T
c.1651G>T
c.4111G>T (p.Glu1371Ter)
c.327G>T
c.4291G>T (p.Glu1431Ter)
c.3958G>T (p.Glu1320Ter)
ClinVar dbSNP
7g.117665524A=CA1737422945CFTRc.*411A= (n.*411A=)
c.*3916A= (n.*3916A=)
c.4019A= (p.Glu1340=)
c.*415A= (n.*415A=)
c.*855A= (n.*855A=)
c.4202A= (p.Glu1401=)
c.*863A= (n.*863A=)
c.*2577A= (n.*2577A=)
c.4196A= (p.Glu1399=)
c.*4026A= (n.*4026A=)
c.3776A= (p.Glu1259=)
n.2370A=
c.1066A= (n.1066A=)
c.1989A= (n.1989A=)
c.784A=
c.1652A=
c.4112A= (p.Glu1371=)
c.328A=
c.4292A= (p.Glu1431=)
c.3959A= (p.Glu1320=)
7g.117665524A>CCA327451CFTRc.*411A>C (n.*411A>C)
c.*3916A>C (n.*3916A>C)
c.4019A>C (p.Glu1340Ala)
c.*415A>C (n.*415A>C)
c.*855A>C (n.*855A>C)
c.4202A>C (p.Glu1401Ala)
c.*863A>C (n.*863A>C)
c.*2577A>C (n.*2577A>C)
c.4196A>C (p.Glu1399Ala)
c.*4026A>C (n.*4026A>C)
c.3776A>C (p.Glu1259Ala)
n.2370A>C
c.1066A>C (n.1066A>C)
c.1989A>C (n.1989A>C)
c.784A>C
c.1652A>C
c.4112A>C (p.Glu1371Ala)
c.328A>C
c.4292A>C (p.Glu1431Ala)
c.3959A>C (p.Glu1320Ala)
dbSNP
7g.117665524A>GCA327453CFTRc.*411A>G (n.*411A>G)
c.*3916A>G (n.*3916A>G)
c.4019A>G (p.Glu1340Gly)
c.*415A>G (n.*415A>G)
c.*855A>G (n.*855A>G)
c.4202A>G (p.Glu1401Gly)
c.*863A>G (n.*863A>G)
c.*2577A>G (n.*2577A>G)
c.4196A>G (p.Glu1399Gly)
c.*4026A>G (n.*4026A>G)
c.3776A>G (p.Glu1259Gly)
n.2370A>G
c.1066A>G (n.1066A>G)
c.1989A>G (n.1989A>G)
c.784A>G
c.1652A>G
c.4112A>G (p.Glu1371Gly)
c.328A>G
c.4292A>G (p.Glu1431Gly)
c.3959A>G (p.Glu1320Gly)
ClinVar dbSNP gnomAD v4
7g.117665524A>TCA368983663CFTRc.*411A>T (n.*411A>T)
c.*3916A>T (n.*3916A>T)
c.4019A>T (p.Glu1340Val)
c.*415A>T (n.*415A>T)
c.*855A>T (n.*855A>T)
c.4202A>T (p.Glu1401Val)
c.*863A>T (n.*863A>T)
c.*2577A>T (n.*2577A>T)
c.4196A>T (p.Glu1399Val)
c.*4026A>T (n.*4026A>T)
c.3776A>T (p.Glu1259Val)
n.2370A>T
c.1066A>T (n.1066A>T)
c.1989A>T (n.1989A>T)
c.784A>T
c.1652A>T
c.4112A>T (p.Glu1371Val)
c.328A>T
c.4292A>T (p.Glu1431Val)
c.3959A>T (p.Glu1320Val)
7g.117665525A>CCA368983666CFTRc.*412A>C (n.*412A>C)
c.*3917A>C (n.*3917A>C)
c.4020A>C (p.Glu1340Asp)
c.*416A>C (n.*416A>C)
c.*856A>C (n.*856A>C)
c.4203A>C (p.Glu1401Asp)
c.*864A>C (n.*864A>C)
c.*2578A>C (n.*2578A>C)
c.4197A>C (p.Glu1399Asp)
c.*4027A>C (n.*4027A>C)
c.3777A>C (p.Glu1259Asp)
n.2371A>C
c.1067A>C (n.1067A>C)
c.1990A>C (n.1990A>C)
c.785A>C
c.1653A>C
c.4113A>C (p.Glu1371Asp)
c.329A>C
c.4293A>C (p.Glu1431Asp)
c.3960A>C (p.Glu1320Asp)
7g.117665525A>GCA457230886CFTRc.*412A>G (n.*412A>G)
c.*3917A>G (n.*3917A>G)
c.4020A>G (p.Glu1340=)
c.*416A>G (n.*416A>G)
c.*856A>G (n.*856A>G)
c.4203A>G (p.Glu1401=)
c.*864A>G (n.*864A>G)
c.*2578A>G (n.*2578A>G)
c.4197A>G (p.Glu1399=)
c.*4027A>G (n.*4027A>G)
c.3777A>G (p.Glu1259=)
n.2371A>G
c.1067A>G (n.1067A>G)
c.1990A>G (n.1990A>G)
c.785A>G
c.1653A>G
c.4113A>G (p.Glu1371=)
c.329A>G
c.4293A>G (p.Glu1431=)
c.3960A>G (p.Glu1320=)
7g.117665525A>TCA368983669CFTRc.*412A>T (n.*412A>T)
c.*3917A>T (n.*3917A>T)
c.4020A>T (p.Glu1340Asp)
c.*416A>T (n.*416A>T)
c.*856A>T (n.*856A>T)
c.4203A>T (p.Glu1401Asp)
c.*864A>T (n.*864A>T)
c.*2578A>T (n.*2578A>T)
c.4197A>T (p.Glu1399Asp)
c.*4027A>T (n.*4027A>T)
c.3777A>T (p.Glu1259Asp)
n.2371A>T
c.1067A>T (n.1067A>T)
c.1990A>T (n.1990A>T)
c.785A>T
c.1653A>T
c.4113A>T (p.Glu1371Asp)
c.329A>T
c.4293A>T (p.Glu1431Asp)
c.3960A>T (p.Glu1320Asp)
7g.117665526C>ACA368983672CFTRc.*413C>A (n.*413C>A)
c.*3918C>A (n.*3918C>A)
c.4021C>A (p.His1341Asn)
c.*417C>A (n.*417C>A)
c.*857C>A (n.*857C>A)
c.4204C>A (p.His1402Asn)
c.*865C>A (n.*865C>A)
c.*2579C>A (n.*2579C>A)
c.4198C>A (p.His1400Asn)
c.*4028C>A (n.*4028C>A)
c.3778C>A (p.His1260Asn)
n.2372C>A
c.1068C>A (n.1068C>A)
c.1991C>A (n.1991C>A)
c.786C>A
c.1654C>A
c.4114C>A (p.His1372Asn)
c.330C>A
c.4294C>A (p.His1432Asn)
c.3961C>A (p.His1321Asn)
7g.117665526C>GCA368983677CFTRc.*413C>G (n.*413C>G)
c.*3918C>G (n.*3918C>G)
c.4021C>G (p.His1341Asp)
c.*417C>G (n.*417C>G)
c.*857C>G (n.*857C>G)
c.4204C>G (p.His1402Asp)
c.*865C>G (n.*865C>G)
c.*2579C>G (n.*2579C>G)
c.4198C>G (p.His1400Asp)
c.*4028C>G (n.*4028C>G)
c.3778C>G (p.His1260Asp)
n.2372C>G
c.1068C>G (n.1068C>G)
c.1991C>G (n.1991C>G)
c.786C>G
c.1654C>G
c.4114C>G (p.His1372Asp)
c.330C>G
c.4294C>G (p.His1432Asp)
c.3961C>G (p.His1321Asp)
7g.117665526C>TCA368983675CFTRc.*413C>T (n.*413C>T)
c.*3918C>T (n.*3918C>T)
c.4021C>T (p.His1341Tyr)
c.*417C>T (n.*417C>T)
c.*857C>T (n.*857C>T)
c.4204C>T (p.His1402Tyr)
c.*865C>T (n.*865C>T)
c.*2579C>T (n.*2579C>T)
c.4198C>T (p.His1400Tyr)
c.*4028C>T (n.*4028C>T)
c.3778C>T (p.His1260Tyr)
n.2372C>T
c.1068C>T (n.1068C>T)
c.1991C>T (n.1991C>T)
c.786C>T
c.1654C>T
c.4114C>T (p.His1372Tyr)
c.330C>T
c.4294C>T (p.His1432Tyr)
c.3961C>T (p.His1321Tyr)
7g.117665527A>CCA368983678CFTRc.*414A>C (n.*414A>C)
c.*3919A>C (n.*3919A>C)
c.4022A>C (p.His1341Pro)
c.*418A>C (n.*418A>C)
c.*858A>C (n.*858A>C)
c.4205A>C (p.His1402Pro)
c.*866A>C (n.*866A>C)
c.*2580A>C (n.*2580A>C)
c.4199A>C (p.His1400Pro)
c.*4029A>C (n.*4029A>C)
c.3779A>C (p.His1260Pro)
n.2373A>C
c.1069A>C (n.1069A>C)
c.1992A>C (n.1992A>C)
c.787A>C
c.1655A>C
c.4115A>C (p.His1372Pro)
c.331A>C
c.4295A>C (p.His1432Pro)
c.3962A>C (p.His1321Pro)

Number of alleles fetched