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.117664735T>ACA368982188CFTRc.*220T>A (n.*220T>A)
c.*3725T>A (n.*3725T>A)
c.3828T>A (p.Phe1276Leu)
c.*224T>A (n.*224T>A)
c.*664T>A (n.*664T>A)
c.4011T>A (p.Phe1337Leu)
c.*672T>A (n.*672T>A)
c.*2386T>A (n.*2386T>A)
c.4005T>A (p.Phe1335Leu)
c.*3835T>A (n.*3835T>A)
c.3585T>A (p.Phe1195Leu)
n.2179T>A
c.875T>A (n.875T>A)
c.1798T>A (n.1798T>A)
c.593T>A
c.1461T>A
c.3921T>A (p.Phe1307Leu)
c.137T>A
c.4101T>A (p.Phe1367Leu)
c.3768T>A (p.Phe1256Leu)
7g.117664735T>CCA457230284CFTRc.*220T>C (n.*220T>C)
c.*3725T>C (n.*3725T>C)
c.3828T>C (p.Phe1276=)
c.*224T>C (n.*224T>C)
c.*664T>C (n.*664T>C)
c.4011T>C (p.Phe1337=)
c.*672T>C (n.*672T>C)
c.*2386T>C (n.*2386T>C)
c.4005T>C (p.Phe1335=)
c.*3835T>C (n.*3835T>C)
c.3585T>C (p.Phe1195=)
n.2179T>C
c.875T>C (n.875T>C)
c.1798T>C (n.1798T>C)
c.593T>C
c.1461T>C
c.3921T>C (p.Phe1307=)
c.137T>C
c.4101T>C (p.Phe1367=)
c.3768T>C (p.Phe1256=)
ClinVar gnomAD v4
7g.117664735T>GCA368982189CFTRc.*220T>G (n.*220T>G)
c.*3725T>G (n.*3725T>G)
c.3828T>G (p.Phe1276Leu)
c.*224T>G (n.*224T>G)
c.*664T>G (n.*664T>G)
c.4011T>G (p.Phe1337Leu)
c.*672T>G (n.*672T>G)
c.*2386T>G (n.*2386T>G)
c.4005T>G (p.Phe1335Leu)
c.*3835T>G (n.*3835T>G)
c.3585T>G (p.Phe1195Leu)
n.2179T>G
c.875T>G (n.875T>G)
c.1798T>G (n.1798T>G)
c.593T>G
c.1461T>G
c.3921T>G (p.Phe1307Leu)
c.137T>G
c.4101T>G (p.Phe1367Leu)
c.3768T>G (p.Phe1256Leu)
7g.117664736G>ACA368982192CFTRc.*221G>A (n.*221G>A)
c.*3726G>A (n.*3726G>A)
c.3829G>A (p.Val1277Ile)
c.*225G>A (n.*225G>A)
c.*665G>A (n.*665G>A)
c.4012G>A (p.Val1338Ile)
c.*673G>A (n.*673G>A)
c.*2387G>A (n.*2387G>A)
c.4006G>A (p.Val1336Ile)
c.*3836G>A (n.*3836G>A)
c.3586G>A (p.Val1196Ile)
n.2180G>A
c.876G>A (n.876G>A)
c.1799G>A (n.1799G>A)
c.594G>A
c.1462G>A
c.3922G>A (p.Val1308Ile)
c.138G>A
c.4102G>A (p.Val1368Ile)
c.3769G>A (p.Val1257Ile)
7g.117664736G>CCA368982195CFTRc.*221G>C (n.*221G>C)
c.*3726G>C (n.*3726G>C)
c.3829G>C (p.Val1277Leu)
c.*225G>C (n.*225G>C)
c.*665G>C (n.*665G>C)
c.4012G>C (p.Val1338Leu)
c.*673G>C (n.*673G>C)
c.*2387G>C (n.*2387G>C)
c.4006G>C (p.Val1336Leu)
c.*3836G>C (n.*3836G>C)
c.3586G>C (p.Val1196Leu)
n.2180G>C
c.876G>C (n.876G>C)
c.1799G>C (n.1799G>C)
c.594G>C
c.1462G>C
c.3922G>C (p.Val1308Leu)
c.138G>C
c.4102G>C (p.Val1368Leu)
c.3769G>C (p.Val1257Leu)
7g.117664736G>TCA368982203CFTRc.*221G>T (n.*221G>T)
c.*3726G>T (n.*3726G>T)
c.3829G>T (p.Val1277Phe)
c.*225G>T (n.*225G>T)
c.*665G>T (n.*665G>T)
c.4012G>T (p.Val1338Phe)
c.*673G>T (n.*673G>T)
c.*2387G>T (n.*2387G>T)
c.4006G>T (p.Val1336Phe)
c.*3836G>T (n.*3836G>T)
c.3586G>T (p.Val1196Phe)
n.2180G>T
c.876G>T (n.876G>T)
c.1799G>T (n.1799G>T)
c.594G>T
c.1462G>T
c.3922G>T (p.Val1308Phe)
c.138G>T
c.4102G>T (p.Val1368Phe)
c.3769G>T (p.Val1257Phe)
7g.117664737T>ACA368982207CFTRc.*222T>A (n.*222T>A)
c.*3727T>A (n.*3727T>A)
c.3830T>A (p.Val1277Asp)
c.*226T>A (n.*226T>A)
c.*666T>A (n.*666T>A)
c.4013T>A (p.Val1338Asp)
c.*674T>A (n.*674T>A)
c.*2388T>A (n.*2388T>A)
c.4007T>A (p.Val1336Asp)
c.*3837T>A (n.*3837T>A)
c.3587T>A (p.Val1196Asp)
n.2181T>A
c.877T>A (n.877T>A)
c.1800T>A (n.1800T>A)
c.595T>A
c.1463T>A
c.3923T>A (p.Val1308Asp)
c.139T>A
c.4103T>A (p.Val1368Asp)
c.3770T>A (p.Val1257Asp)
7g.117664737T>CCA368982211CFTRc.*222T>C (n.*222T>C)
c.*3727T>C (n.*3727T>C)
c.3830T>C (p.Val1277Ala)
c.*226T>C (n.*226T>C)
c.*666T>C (n.*666T>C)
c.4013T>C (p.Val1338Ala)
c.*674T>C (n.*674T>C)
c.*2388T>C (n.*2388T>C)
c.4007T>C (p.Val1336Ala)
c.*3837T>C (n.*3837T>C)
c.3587T>C (p.Val1196Ala)
n.2181T>C
c.877T>C (n.877T>C)
c.1800T>C (n.1800T>C)
c.595T>C
c.1463T>C
c.3923T>C (p.Val1308Ala)
c.139T>C
c.4103T>C (p.Val1368Ala)
c.3770T>C (p.Val1257Ala)
7g.117664737T>GCA368982215CFTRc.*222T>G (n.*222T>G)
c.*3727T>G (n.*3727T>G)
c.3830T>G (p.Val1277Gly)
c.*226T>G (n.*226T>G)
c.*666T>G (n.*666T>G)
c.4013T>G (p.Val1338Gly)
c.*674T>G (n.*674T>G)
c.*2388T>G (n.*2388T>G)
c.4007T>G (p.Val1336Gly)
c.*3837T>G (n.*3837T>G)
c.3587T>G (p.Val1196Gly)
n.2181T>G
c.877T>G (n.877T>G)
c.1800T>G (n.1800T>G)
c.595T>G
c.1463T>G
c.3923T>G (p.Val1308Gly)
c.139T>G
c.4103T>G (p.Val1368Gly)
c.3770T>G (p.Val1257Gly)
COSMIC
7g.117664738C>ACA457230285CFTRc.*223C>A (n.*223C>A)
c.*3728C>A (n.*3728C>A)
c.3831C>A (p.Val1277=)
c.*227C>A (n.*227C>A)
c.*667C>A (n.*667C>A)
c.4014C>A (p.Val1338=)
c.*675C>A (n.*675C>A)
c.*2389C>A (n.*2389C>A)
c.4008C>A (p.Val1336=)
c.*3838C>A (n.*3838C>A)
c.3588C>A (p.Val1196=)
n.2182C>A
c.878C>A (n.878C>A)
c.1801C>A (n.1801C>A)
c.596C>A
c.1464C>A
c.3924C>A (p.Val1308=)
c.140C>A
c.4104C>A (p.Val1368=)
c.3771C>A (p.Val1257=)
7g.117664738C>GCA457230286CFTRc.*223C>G (n.*223C>G)
c.*3728C>G (n.*3728C>G)
c.3831C>G (p.Val1277=)
c.*227C>G (n.*227C>G)
c.*667C>G (n.*667C>G)
c.4014C>G (p.Val1338=)
c.*675C>G (n.*675C>G)
c.*2389C>G (n.*2389C>G)
c.4008C>G (p.Val1336=)
c.*3838C>G (n.*3838C>G)
c.3588C>G (p.Val1196=)
n.2182C>G
c.878C>G (n.878C>G)
c.1801C>G (n.1801C>G)
c.596C>G
c.1464C>G
c.3924C>G (p.Val1308=)
c.140C>G
c.4104C>G (p.Val1368=)
c.3771C>G (p.Val1257=)
7g.117664738C>TCA457230287CFTRc.*223C>T (n.*223C>T)
c.*3728C>T (n.*3728C>T)
c.3831C>T (p.Val1277=)
c.*227C>T (n.*227C>T)
c.*667C>T (n.*667C>T)
c.4014C>T (p.Val1338=)
c.*675C>T (n.*675C>T)
c.*2389C>T (n.*2389C>T)
c.4008C>T (p.Val1336=)
c.*3838C>T (n.*3838C>T)
c.3588C>T (p.Val1196=)
n.2182C>T
c.878C>T (n.878C>T)
c.1801C>T (n.1801C>T)
c.596C>T
c.1464C>T
c.3924C>T (p.Val1308=)
c.140C>T
c.4104C>T (p.Val1368=)
c.3771C>T (p.Val1257=)
gnomAD v4
7g.117664739C>ACA368982224CFTRc.*224C>A (n.*224C>A)
c.*3729C>A (n.*3729C>A)
c.3832C>A (p.Leu1278Ile)
c.*228C>A (n.*228C>A)
c.*668C>A (n.*668C>A)
c.4015C>A (p.Leu1339Ile)
c.*676C>A (n.*676C>A)
c.*2390C>A (n.*2390C>A)
c.4009C>A (p.Leu1337Ile)
c.*3839C>A (n.*3839C>A)
c.3589C>A (p.Leu1197Ile)
n.2183C>A
c.879C>A (n.879C>A)
c.1802C>A (n.1802C>A)
c.597C>A
c.1465C>A
c.3925C>A (p.Leu1309Ile)
c.141C>A
c.4105C>A (p.Leu1369Ile)
c.3772C>A (p.Leu1258Ile)
7g.117664739C=CA1737421845CFTRc.*224C= (n.*224C=)
c.*3729C= (n.*3729C=)
c.3832C= (p.Leu1278=)
c.*228C= (n.*228C=)
c.*668C= (n.*668C=)
c.4015C= (p.Leu1339=)
c.*676C= (n.*676C=)
c.*2390C= (n.*2390C=)
c.4009C= (p.Leu1337=)
c.*3839C= (n.*3839C=)
c.3589C= (p.Leu1197=)
n.2183C=
c.879C= (n.879C=)
c.1802C= (n.1802C=)
c.597C=
c.1465C=
c.3925C= (p.Leu1309=)
c.141C=
c.4105C= (p.Leu1369=)
c.3772C= (p.Leu1258=)
7g.117664739C>GCA368982225CFTRc.*224C>G (n.*224C>G)
c.*3729C>G (n.*3729C>G)
c.3832C>G (p.Leu1278Val)
c.*228C>G (n.*228C>G)
c.*668C>G (n.*668C>G)
c.4015C>G (p.Leu1339Val)
c.*676C>G (n.*676C>G)
c.*2390C>G (n.*2390C>G)
c.4009C>G (p.Leu1337Val)
c.*3839C>G (n.*3839C>G)
c.3589C>G (p.Leu1197Val)
n.2183C>G
c.879C>G (n.879C>G)
c.1802C>G (n.1802C>G)
c.597C>G
c.1465C>G
c.3925C>G (p.Leu1309Val)
c.141C>G
c.4105C>G (p.Leu1369Val)
c.3772C>G (p.Leu1258Val)
7g.117664739C>TCA327382CFTRc.*224C>T (n.*224C>T)
c.*3729C>T (n.*3729C>T)
c.3832C>T (p.Leu1278Phe)
c.*228C>T (n.*228C>T)
c.*668C>T (n.*668C>T)
c.4015C>T (p.Leu1339Phe)
c.*676C>T (n.*676C>T)
c.*2390C>T (n.*2390C>T)
c.4009C>T (p.Leu1337Phe)
c.*3839C>T (n.*3839C>T)
c.3589C>T (p.Leu1197Phe)
n.2183C>T
c.879C>T (n.879C>T)
c.1802C>T (n.1802C>T)
c.597C>T
c.1465C>T
c.3925C>T (p.Leu1309Phe)
c.141C>T
c.4105C>T (p.Leu1369Phe)
c.3772C>T (p.Leu1258Phe)
ClinVar dbSNP gnomAD v4
7g.117664740T>ACA368982226CFTRc.*225T>A (n.*225T>A)
c.*3730T>A (n.*3730T>A)
c.3833T>A (p.Leu1278His)
c.*229T>A (n.*229T>A)
c.*669T>A (n.*669T>A)
c.4016T>A (p.Leu1339His)
c.*677T>A (n.*677T>A)
c.*2391T>A (n.*2391T>A)
c.4010T>A (p.Leu1337His)
c.*3840T>A (n.*3840T>A)
c.3590T>A (p.Leu1197His)
n.2184T>A
c.880T>A (n.880T>A)
c.1803T>A (n.1803T>A)
c.598T>A
c.1466T>A
c.3926T>A (p.Leu1309His)
c.142T>A
c.4106T>A (p.Leu1369His)
c.3773T>A (p.Leu1258His)
7g.117664740T>CCA4451608CFTRc.*225T>C (n.*225T>C)
c.*3730T>C (n.*3730T>C)
c.3833T>C (p.Leu1278Pro)
c.*229T>C (n.*229T>C)
c.*669T>C (n.*669T>C)
c.4016T>C (p.Leu1339Pro)
c.*677T>C (n.*677T>C)
c.*2391T>C (n.*2391T>C)
c.4010T>C (p.Leu1337Pro)
c.*3840T>C (n.*3840T>C)
c.3590T>C (p.Leu1197Pro)
n.2184T>C
c.880T>C (n.880T>C)
c.1803T>C (n.1803T>C)
c.598T>C
c.1466T>C
c.3926T>C (p.Leu1309Pro)
c.142T>C
c.4106T>C (p.Leu1369Pro)
c.3773T>C (p.Leu1258Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117664740T>GCA368982228CFTRc.*225T>G (n.*225T>G)
c.*3730T>G (n.*3730T>G)
c.3833T>G (p.Leu1278Arg)
c.*229T>G (n.*229T>G)
c.*669T>G (n.*669T>G)
c.4016T>G (p.Leu1339Arg)
c.*677T>G (n.*677T>G)
c.*2391T>G (n.*2391T>G)
c.4010T>G (p.Leu1337Arg)
c.*3840T>G (n.*3840T>G)
c.3590T>G (p.Leu1197Arg)
n.2184T>G
c.880T>G (n.880T>G)
c.1803T>G (n.1803T>G)
c.598T>G
c.1466T>G
c.3926T>G (p.Leu1309Arg)
c.142T>G
c.4106T>G (p.Leu1369Arg)
c.3773T>G (p.Leu1258Arg)
7g.117664740T=CA1737421849CFTRc.*225T= (n.*225T=)
c.*3730T= (n.*3730T=)
c.3833T= (p.Leu1278=)
c.*229T= (n.*229T=)
c.*669T= (n.*669T=)
c.4016T= (p.Leu1339=)
c.*677T= (n.*677T=)
c.*2391T= (n.*2391T=)
c.4010T= (p.Leu1337=)
c.*3840T= (n.*3840T=)
c.3590T= (p.Leu1197=)
n.2184T=
c.880T= (n.880T=)
c.1803T= (n.1803T=)
c.598T=
c.1466T=
c.3926T= (p.Leu1309=)
c.142T=
c.4106T= (p.Leu1369=)
c.3773T= (p.Leu1258=)
7g.117664741T>ACA457230288CFTRc.*226T>A (n.*226T>A)
c.*3731T>A (n.*3731T>A)
c.3834T>A (p.Leu1278=)
c.*230T>A (n.*230T>A)
c.*670T>A (n.*670T>A)
c.4017T>A (p.Leu1339=)
c.*678T>A (n.*678T>A)
c.*2392T>A (n.*2392T>A)
c.4011T>A (p.Leu1337=)
c.*3841T>A (n.*3841T>A)
c.3591T>A (p.Leu1197=)
n.2185T>A
c.881T>A (n.881T>A)
c.1804T>A (n.1804T>A)
c.599T>A
c.1467T>A
c.3927T>A (p.Leu1309=)
c.143T>A
c.4107T>A (p.Leu1369=)
c.3774T>A (p.Leu1258=)
7g.117664741T>CCA457230289CFTRc.*226T>C (n.*226T>C)
c.*3731T>C (n.*3731T>C)
c.3834T>C (p.Leu1278=)
c.*230T>C (n.*230T>C)
c.*670T>C (n.*670T>C)
c.4017T>C (p.Leu1339=)
c.*678T>C (n.*678T>C)
c.*2392T>C (n.*2392T>C)
c.4011T>C (p.Leu1337=)
c.*3841T>C (n.*3841T>C)
c.3591T>C (p.Leu1197=)
n.2185T>C
c.881T>C (n.881T>C)
c.1804T>C (n.1804T>C)
c.599T>C
c.1467T>C
c.3927T>C (p.Leu1309=)
c.143T>C
c.4107T>C (p.Leu1369=)
c.3774T>C (p.Leu1258=)
7g.117664741T>GCA457230290CFTRc.*226T>G (n.*226T>G)
c.*3731T>G (n.*3731T>G)
c.3834T>G (p.Leu1278=)
c.*230T>G (n.*230T>G)
c.*670T>G (n.*670T>G)
c.4017T>G (p.Leu1339=)
c.*678T>G (n.*678T>G)
c.*2392T>G (n.*2392T>G)
c.4011T>G (p.Leu1337=)
c.*3841T>G (n.*3841T>G)
c.3591T>G (p.Leu1197=)
n.2185T>G
c.881T>G (n.881T>G)
c.1804T>G (n.1804T>G)
c.599T>G
c.1467T>G
c.3927T>G (p.Leu1309=)
c.143T>G
c.4107T>G (p.Leu1369=)
c.3774T>G (p.Leu1258=)
7g.117664742G>ACA368982235CFTRc.*227G>A (n.*227G>A)
c.*3732G>A (n.*3732G>A)
c.3835G>A (p.Val1279Met)
c.*231G>A (n.*231G>A)
c.*671G>A (n.*671G>A)
c.4018G>A (p.Val1340Met)
c.*679G>A (n.*679G>A)
c.*2393G>A (n.*2393G>A)
c.4012G>A (p.Val1338Met)
c.*3842G>A (n.*3842G>A)
c.3592G>A (p.Val1198Met)
n.2186G>A
c.882G>A (n.882G>A)
c.1805G>A (n.1805G>A)
c.600G>A
c.1468G>A
c.3928G>A (p.Val1310Met)
c.144G>A
c.4108G>A (p.Val1370Met)
c.3775G>A (p.Val1259Met)
7g.117664742G>CCA368982236CFTRc.*227G>C (n.*227G>C)
c.*3732G>C (n.*3732G>C)
c.3835G>C (p.Val1279Leu)
c.*231G>C (n.*231G>C)
c.*671G>C (n.*671G>C)
c.4018G>C (p.Val1340Leu)
c.*679G>C (n.*679G>C)
c.*2393G>C (n.*2393G>C)
c.4012G>C (p.Val1338Leu)
c.*3842G>C (n.*3842G>C)
c.3592G>C (p.Val1198Leu)
n.2186G>C
c.882G>C (n.882G>C)
c.1805G>C (n.1805G>C)
c.600G>C
c.1468G>C
c.3928G>C (p.Val1310Leu)
c.144G>C
c.4108G>C (p.Val1370Leu)
c.3775G>C (p.Val1259Leu)
ClinVar dbSNP
7g.117664742G=CA1737421852CFTRc.*227G= (n.*227G=)
c.*3732G= (n.*3732G=)
c.3835G= (p.Val1279=)
c.*231G= (n.*231G=)
c.*671G= (n.*671G=)
c.4018G= (p.Val1340=)
c.*679G= (n.*679G=)
c.*2393G= (n.*2393G=)
c.4012G= (p.Val1338=)
c.*3842G= (n.*3842G=)
c.3592G= (p.Val1198=)
n.2186G=
c.882G= (n.882G=)
c.1805G= (n.1805G=)
c.600G=
c.1468G=
c.3928G= (p.Val1310=)
c.144G=
c.4108G= (p.Val1370=)
c.3775G= (p.Val1259=)
7g.117664742G>TCA368982237CFTRc.*227G>T (n.*227G>T)
c.*3732G>T (n.*3732G>T)
c.3835G>T (p.Val1279Leu)
c.*231G>T (n.*231G>T)
c.*671G>T (n.*671G>T)
c.4018G>T (p.Val1340Leu)
c.*679G>T (n.*679G>T)
c.*2393G>T (n.*2393G>T)
c.4012G>T (p.Val1338Leu)
c.*3842G>T (n.*3842G>T)
c.3592G>T (p.Val1198Leu)
n.2186G>T
c.882G>T (n.882G>T)
c.1805G>T (n.1805G>T)
c.600G>T
c.1468G>T
c.3928G>T (p.Val1310Leu)
c.144G>T
c.4108G>T (p.Val1370Leu)
c.3775G>T (p.Val1259Leu)
7g.117664743T>ACA368982240CFTRc.*228T>A (n.*228T>A)
c.*3733T>A (n.*3733T>A)
c.3836T>A (p.Val1279Glu)
c.*232T>A (n.*232T>A)
c.*672T>A (n.*672T>A)
c.4019T>A (p.Val1340Glu)
c.*680T>A (n.*680T>A)
c.*2394T>A (n.*2394T>A)
c.4013T>A (p.Val1338Glu)
c.*3843T>A (n.*3843T>A)
c.3593T>A (p.Val1198Glu)
n.2187T>A
c.883T>A (n.883T>A)
c.1806T>A (n.1806T>A)
c.601T>A
c.1469T>A
c.3929T>A (p.Val1310Glu)
c.145T>A
c.4109T>A (p.Val1370Glu)
c.3776T>A (p.Val1259Glu)
ClinVar gnomAD v4
7g.117664743T>CCA368982251CFTRc.*228T>C (n.*228T>C)
c.*3733T>C (n.*3733T>C)
c.3836T>C (p.Val1279Ala)
c.*232T>C (n.*232T>C)
c.*672T>C (n.*672T>C)
c.4019T>C (p.Val1340Ala)
c.*680T>C (n.*680T>C)
c.*2394T>C (n.*2394T>C)
c.4013T>C (p.Val1338Ala)
c.*3843T>C (n.*3843T>C)
c.3593T>C (p.Val1198Ala)
n.2187T>C
c.883T>C (n.883T>C)
c.1806T>C (n.1806T>C)
c.601T>C
c.1469T>C
c.3929T>C (p.Val1310Ala)
c.145T>C
c.4109T>C (p.Val1370Ala)
c.3776T>C (p.Val1259Ala)
7g.117664743T>GCA368982255CFTRc.*228T>G (n.*228T>G)
c.*3733T>G (n.*3733T>G)
c.3836T>G (p.Val1279Gly)
c.*232T>G (n.*232T>G)
c.*672T>G (n.*672T>G)
c.4019T>G (p.Val1340Gly)
c.*680T>G (n.*680T>G)
c.*2394T>G (n.*2394T>G)
c.4013T>G (p.Val1338Gly)
c.*3843T>G (n.*3843T>G)
c.3593T>G (p.Val1198Gly)
n.2187T>G
c.883T>G (n.883T>G)
c.1806T>G (n.1806T>G)
c.601T>G
c.1469T>G
c.3929T>G (p.Val1310Gly)
c.145T>G
c.4109T>G (p.Val1370Gly)
c.3776T>G (p.Val1259Gly)
dbSNP
7g.117664743T=CA1737421859CFTRc.*228T= (n.*228T=)
c.*3733T= (n.*3733T=)
c.3836T= (p.Val1279=)
c.*232T= (n.*232T=)
c.*672T= (n.*672T=)
c.4019T= (p.Val1340=)
c.*680T= (n.*680T=)
c.*2394T= (n.*2394T=)
c.4013T= (p.Val1338=)
c.*3843T= (n.*3843T=)
c.3593T= (p.Val1198=)
n.2187T=
c.883T= (n.883T=)
c.1806T= (n.1806T=)
c.601T=
c.1469T=
c.3929T= (p.Val1310=)
c.145T=
c.4109T= (p.Val1370=)
c.3776T= (p.Val1259=)
7g.117664744G>ACA457230293CFTRc.*229G>A (n.*229G>A)
c.*3734G>A (n.*3734G>A)
c.3837G>A (p.Val1279=)
c.*233G>A (n.*233G>A)
c.*673G>A (n.*673G>A)
c.4020G>A (p.Val1340=)
c.*681G>A (n.*681G>A)
c.*2395G>A (n.*2395G>A)
c.4014G>A (p.Val1338=)
c.*3844G>A (n.*3844G>A)
c.3594G>A (p.Val1198=)
n.2188G>A
c.884G>A (n.884G>A)
c.1807G>A (n.1807G>A)
c.602G>A
c.1470G>A
c.3930G>A (p.Val1310=)
c.146G>A
c.4110G>A (p.Val1370=)
c.3777G>A (p.Val1259=)
ClinVar COSMIC
7g.117664744G>CCA457230291CFTRc.*229G>C (n.*229G>C)
c.*3734G>C (n.*3734G>C)
c.3837G>C (p.Val1279=)
c.*233G>C (n.*233G>C)
c.*673G>C (n.*673G>C)
c.4020G>C (p.Val1340=)
c.*681G>C (n.*681G>C)
c.*2395G>C (n.*2395G>C)
c.4014G>C (p.Val1338=)
c.*3844G>C (n.*3844G>C)
c.3594G>C (p.Val1198=)
n.2188G>C
c.884G>C (n.884G>C)
c.1807G>C (n.1807G>C)
c.602G>C
c.1470G>C
c.3930G>C (p.Val1310=)
c.146G>C
c.4110G>C (p.Val1370=)
c.3777G>C (p.Val1259=)
7g.117664744G>TCA457230292CFTRc.*229G>T (n.*229G>T)
c.*3734G>T (n.*3734G>T)
c.3837G>T (p.Val1279=)
c.*233G>T (n.*233G>T)
c.*673G>T (n.*673G>T)
c.4020G>T (p.Val1340=)
c.*681G>T (n.*681G>T)
c.*2395G>T (n.*2395G>T)
c.4014G>T (p.Val1338=)
c.*3844G>T (n.*3844G>T)
c.3594G>T (p.Val1198=)
n.2188G>T
c.884G>T (n.884G>T)
c.1807G>T (n.1807G>T)
c.602G>T
c.1470G>T
c.3930G>T (p.Val1310=)
c.146G>T
c.4110G>T (p.Val1370=)
c.3777G>T (p.Val1259=)
7g.117664745G>ACA368982259CFTRc.*230G>A (n.*230G>A)
c.*3735G>A (n.*3735G>A)
c.3838G>A (p.Asp1280Asn)
c.*234G>A (n.*234G>A)
c.*674G>A (n.*674G>A)
c.4021G>A (p.Asp1341Asn)
c.*682G>A (n.*682G>A)
c.*2396G>A (n.*2396G>A)
c.4015G>A (p.Asp1339Asn)
c.*3845G>A (n.*3845G>A)
c.3595G>A (p.Asp1199Asn)
n.2189G>A
c.885G>A (n.885G>A)
c.1808G>A (n.1808G>A)
c.603G>A
c.1471G>A
c.3931G>A (p.Asp1311Asn)
c.147G>A
c.4111G>A (p.Asp1371Asn)
c.3778G>A (p.Asp1260Asn)
7g.117664745G>CCA368982263CFTRc.*230G>C (n.*230G>C)
c.*3735G>C (n.*3735G>C)
c.3838G>C (p.Asp1280His)
c.*234G>C (n.*234G>C)
c.*674G>C (n.*674G>C)
c.4021G>C (p.Asp1341His)
c.*682G>C (n.*682G>C)
c.*2396G>C (n.*2396G>C)
c.4015G>C (p.Asp1339His)
c.*3845G>C (n.*3845G>C)
c.3595G>C (p.Asp1199His)
n.2189G>C
c.885G>C (n.885G>C)
c.1808G>C (n.1808G>C)
c.603G>C
c.1471G>C
c.3931G>C (p.Asp1311His)
c.147G>C
c.4111G>C (p.Asp1371His)
c.3778G>C (p.Asp1260His)
7g.117664745G>TCA368982264CFTRc.*230G>T (n.*230G>T)
c.*3735G>T (n.*3735G>T)
c.3838G>T (p.Asp1280Tyr)
c.*234G>T (n.*234G>T)
c.*674G>T (n.*674G>T)
c.4021G>T (p.Asp1341Tyr)
c.*682G>T (n.*682G>T)
c.*2396G>T (n.*2396G>T)
c.4015G>T (p.Asp1339Tyr)
c.*3845G>T (n.*3845G>T)
c.3595G>T (p.Asp1199Tyr)
n.2189G>T
c.885G>T (n.885G>T)
c.1808G>T (n.1808G>T)
c.603G>T
c.1471G>T
c.3931G>T (p.Asp1311Tyr)
c.147G>T
c.4111G>T (p.Asp1371Tyr)
c.3778G>T (p.Asp1260Tyr)
7g.117664746A=CA1737421864CFTRc.*231A= (n.*231A=)
c.*3736A= (n.*3736A=)
c.3839A= (p.Asp1280=)
c.*235A= (n.*235A=)
c.*675A= (n.*675A=)
c.4022A= (p.Asp1341=)
c.*683A= (n.*683A=)
c.*2397A= (n.*2397A=)
c.4016A= (p.Asp1339=)
c.*3846A= (n.*3846A=)
c.3596A= (p.Asp1199=)
n.2190A=
c.886A= (n.886A=)
c.1809A= (n.1809A=)
c.604A=
c.1472A=
c.3932A= (p.Asp1311=)
c.148A=
c.4112A= (p.Asp1371=)
c.3779A= (p.Asp1260=)
7g.117664746A>CCA368982265CFTRc.*231A>C (n.*231A>C)
c.*3736A>C (n.*3736A>C)
c.3839A>C (p.Asp1280Ala)
c.*235A>C (n.*235A>C)
c.*675A>C (n.*675A>C)
c.4022A>C (p.Asp1341Ala)
c.*683A>C (n.*683A>C)
c.*2397A>C (n.*2397A>C)
c.4016A>C (p.Asp1339Ala)
c.*3846A>C (n.*3846A>C)
c.3596A>C (p.Asp1199Ala)
n.2190A>C
c.886A>C (n.886A>C)
c.1809A>C (n.1809A>C)
c.604A>C
c.1472A>C
c.3932A>C (p.Asp1311Ala)
c.148A>C
c.4112A>C (p.Asp1371Ala)
c.3779A>C (p.Asp1260Ala)
7g.117664746A>GCA4451609CFTRc.*231A>G (n.*231A>G)
c.*3736A>G (n.*3736A>G)
c.3839A>G (p.Asp1280Gly)
c.*235A>G (n.*235A>G)
c.*675A>G (n.*675A>G)
c.4022A>G (p.Asp1341Gly)
c.*683A>G (n.*683A>G)
c.*2397A>G (n.*2397A>G)
c.4016A>G (p.Asp1339Gly)
c.*3846A>G (n.*3846A>G)
c.3596A>G (p.Asp1199Gly)
n.2190A>G
c.886A>G (n.886A>G)
c.1809A>G (n.1809A>G)
c.604A>G
c.1472A>G
c.3932A>G (p.Asp1311Gly)
c.148A>G
c.4112A>G (p.Asp1371Gly)
c.3779A>G (p.Asp1260Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.117664746A>TCA368982271CFTRc.*231A>T (n.*231A>T)
c.*3736A>T (n.*3736A>T)
c.3839A>T (p.Asp1280Val)
c.*235A>T (n.*235A>T)
c.*675A>T (n.*675A>T)
c.4022A>T (p.Asp1341Val)
c.*683A>T (n.*683A>T)
c.*2397A>T (n.*2397A>T)
c.4016A>T (p.Asp1339Val)
c.*3846A>T (n.*3846A>T)
c.3596A>T (p.Asp1199Val)
n.2190A>T
c.886A>T (n.886A>T)
c.1809A>T (n.1809A>T)
c.604A>T
c.1472A>T
c.3932A>T (p.Asp1311Val)
c.148A>T
c.4112A>T (p.Asp1371Val)
c.3779A>T (p.Asp1260Val)
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)
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)

Number of alleles fetched