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.117664828_117664855dupCA2684649159CFTRc.*313_*340dup (n.*313_*340dup)
c.*3818_*3845dup (n.*3818_*3845dup)
c.3921_3948dup (p.Pro1317AlafsTer2)
c.*317_*344dup (n.*317_*344dup)
c.*757_*784dup (n.*757_*784dup)
c.4104_4131dup (p.Pro1378AlafsTer2)
c.*765_*792dup (n.*765_*792dup)
c.*2479_*2506dup (n.*2479_*2506dup)
c.4098_4125dup (p.Pro1376AlafsTer2)
c.*3928_*3955dup (n.*3928_*3955dup)
c.3678_3705dup (p.Pro1236AlafsTer2)
n.2272_2299dup
c.968_995dup (n.968_995dup)
c.1891_1918dup (n.1891_1918dup)
c.686_713dup
c.1554_1581dup
c.4014_4041dup (p.Pro1348AlafsTer2)
c.230_257dup
c.4194_4221dup (p.Pro1408AlafsTer2)
c.3861_3888dup (p.Pro1297AlafsTer2)
gnomAD v4
7g.117664835G>ACA368982947CFTRc.*320G>A (n.*320G>A)
c.*3825G>A (n.*3825G>A)
c.3928G>A (p.Glu1310Lys)
c.*324G>A (n.*324G>A)
c.*764G>A (n.*764G>A)
c.4111G>A (p.Glu1371Lys)
c.*772G>A (n.*772G>A)
c.*2486G>A (n.*2486G>A)
c.4105G>A (p.Glu1369Lys)
c.*3935G>A (n.*3935G>A)
c.3685G>A (p.Glu1229Lys)
n.2279G>A
c.975G>A (n.975G>A)
c.1898G>A (n.1898G>A)
c.693G>A
c.1561G>A
c.4021G>A (p.Glu1341Lys)
c.237G>A
c.4201G>A (p.Glu1401Lys)
c.3868G>A (p.Glu1290Lys)
7g.117664835G>CCA368982951CFTRc.*320G>C (n.*320G>C)
c.*3825G>C (n.*3825G>C)
c.3928G>C (p.Glu1310Gln)
c.*324G>C (n.*324G>C)
c.*764G>C (n.*764G>C)
c.4111G>C (p.Glu1371Gln)
c.*772G>C (n.*772G>C)
c.*2486G>C (n.*2486G>C)
c.4105G>C (p.Glu1369Gln)
c.*3935G>C (n.*3935G>C)
c.3685G>C (p.Glu1229Gln)
n.2279G>C
c.975G>C (n.975G>C)
c.1898G>C (n.1898G>C)
c.693G>C
c.1561G>C
c.4021G>C (p.Glu1341Gln)
c.237G>C
c.4201G>C (p.Glu1401Gln)
c.3868G>C (p.Glu1290Gln)
7g.117664835G=CA1737422182CFTRc.*320G= (n.*320G=)
c.*3825G= (n.*3825G=)
c.3928G= (p.Glu1310=)
c.*324G= (n.*324G=)
c.*764G= (n.*764G=)
c.4111G= (p.Glu1371=)
c.*772G= (n.*772G=)
c.*2486G= (n.*2486G=)
c.4105G= (p.Glu1369=)
c.*3935G= (n.*3935G=)
c.3685G= (p.Glu1229=)
n.2279G=
c.975G= (n.975G=)
c.1898G= (n.1898G=)
c.693G=
c.1561G=
c.4021G= (p.Glu1341=)
c.237G=
c.4201G= (p.Glu1401=)
c.3868G= (p.Glu1290=)
7g.117664835G>TCA327404CFTRc.*320G>T (n.*320G>T)
c.*3825G>T (n.*3825G>T)
c.3928G>T (p.Glu1310Ter)
c.*324G>T (n.*324G>T)
c.*764G>T (n.*764G>T)
c.4111G>T (p.Glu1371Ter)
c.*772G>T (n.*772G>T)
c.*2486G>T (n.*2486G>T)
c.4105G>T (p.Glu1369Ter)
c.*3935G>T (n.*3935G>T)
c.3685G>T (p.Glu1229Ter)
n.2279G>T
c.975G>T (n.975G>T)
c.1898G>T (n.1898G>T)
c.693G>T
c.1561G>T
c.4021G>T (p.Glu1341Ter)
c.237G>T
c.4201G>T (p.Glu1401Ter)
c.3868G>T (p.Glu1290Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117664835_117664837dupCA2580076372CFTRc.*320_*322dup (n.*320_*322dup)
c.*3825_*3827dup (n.*3825_*3827dup)
c.3928_3930dup (p.Glu1310_Pro1311insGlu)
c.*324_*326dup (n.*324_*326dup)
c.*764_*766dup (n.*764_*766dup)
c.4111_4113dup (p.Glu1371_Pro1372insGlu)
c.*772_*774dup (n.*772_*774dup)
c.*2486_*2488dup (n.*2486_*2488dup)
c.4105_4107dup (p.Glu1369_Pro1370insGlu)
c.*3935_*3937dup (n.*3935_*3937dup)
c.3685_3687dup (p.Glu1229_Pro1230insGlu)
n.2279_2281dup
c.975_977dup (n.975_977dup)
c.1898_1900dup (n.1898_1900dup)
c.693_695dup
c.1561_1563dup
c.4021_4023dup (p.Glu1341_Pro1342insGlu)
c.237_239dup
c.4201_4203dup (p.Glu1401_Pro1402insGlu)
c.3868_3870dup (p.Glu1290_Pro1291insGlu)
ClinVar
7g.117664836A>CCA368982962CFTRc.*321A>C (n.*321A>C)
c.*3826A>C (n.*3826A>C)
c.3929A>C (p.Glu1310Ala)
c.*325A>C (n.*325A>C)
c.*765A>C (n.*765A>C)
c.4112A>C (p.Glu1371Ala)
c.*773A>C (n.*773A>C)
c.*2487A>C (n.*2487A>C)
c.4106A>C (p.Glu1369Ala)
c.*3936A>C (n.*3936A>C)
c.3686A>C (p.Glu1229Ala)
n.2280A>C
c.976A>C (n.976A>C)
c.1899A>C (n.1899A>C)
c.694A>C
c.1562A>C
c.4022A>C (p.Glu1341Ala)
c.238A>C
c.4202A>C (p.Glu1401Ala)
c.3869A>C (p.Glu1290Ala)
7g.117664836A>GCA368982957CFTRc.*321A>G (n.*321A>G)
c.*3826A>G (n.*3826A>G)
c.3929A>G (p.Glu1310Gly)
c.*325A>G (n.*325A>G)
c.*765A>G (n.*765A>G)
c.4112A>G (p.Glu1371Gly)
c.*773A>G (n.*773A>G)
c.*2487A>G (n.*2487A>G)
c.4106A>G (p.Glu1369Gly)
c.*3936A>G (n.*3936A>G)
c.3686A>G (p.Glu1229Gly)
n.2280A>G
c.976A>G (n.976A>G)
c.1899A>G (n.1899A>G)
c.694A>G
c.1562A>G
c.4022A>G (p.Glu1341Gly)
c.238A>G
c.4202A>G (p.Glu1401Gly)
c.3869A>G (p.Glu1290Gly)
7g.117664836A>TCA368982960CFTRc.*321A>T (n.*321A>T)
c.*3826A>T (n.*3826A>T)
c.3929A>T (p.Glu1310Val)
c.*325A>T (n.*325A>T)
c.*765A>T (n.*765A>T)
c.4112A>T (p.Glu1371Val)
c.*773A>T (n.*773A>T)
c.*2487A>T (n.*2487A>T)
c.4106A>T (p.Glu1369Val)
c.*3936A>T (n.*3936A>T)
c.3686A>T (p.Glu1229Val)
n.2280A>T
c.976A>T (n.976A>T)
c.1899A>T (n.1899A>T)
c.694A>T
c.1562A>T
c.4022A>T (p.Glu1341Val)
c.238A>T
c.4202A>T (p.Glu1401Val)
c.3869A>T (p.Glu1290Val)
7g.117664837A=CA1737422185CFTRc.*322A= (n.*322A=)
c.*3827A= (n.*3827A=)
c.3930A= (p.Glu1310=)
c.*326A= (n.*326A=)
c.*766A= (n.*766A=)
c.4113A= (p.Glu1371=)
c.*774A= (n.*774A=)
c.*2488A= (n.*2488A=)
c.4107A= (p.Glu1369=)
c.*3937A= (n.*3937A=)
c.3687A= (p.Glu1229=)
n.2281A=
c.977A= (n.977A=)
c.1900A= (n.1900A=)
c.695A=
c.1563A=
c.4023A= (p.Glu1341=)
c.239A=
c.4203A= (p.Glu1401=)
c.3870A= (p.Glu1290=)
7g.117664837A>CCA368982964CFTRc.*322A>C (n.*322A>C)
c.*3827A>C (n.*3827A>C)
c.3930A>C (p.Glu1310Asp)
c.*326A>C (n.*326A>C)
c.*766A>C (n.*766A>C)
c.4113A>C (p.Glu1371Asp)
c.*774A>C (n.*774A>C)
c.*2488A>C (n.*2488A>C)
c.4107A>C (p.Glu1369Asp)
c.*3937A>C (n.*3937A>C)
c.3687A>C (p.Glu1229Asp)
n.2281A>C
c.977A>C (n.977A>C)
c.1900A>C (n.1900A>C)
c.695A>C
c.1563A>C
c.4023A>C (p.Glu1341Asp)
c.239A>C
c.4203A>C (p.Glu1401Asp)
c.3870A>C (p.Glu1290Asp)
7g.117664837A>GCA457230539CFTRc.*322A>G (n.*322A>G)
c.*3827A>G (n.*3827A>G)
c.3930A>G (p.Glu1310=)
c.*326A>G (n.*326A>G)
c.*766A>G (n.*766A>G)
c.4113A>G (p.Glu1371=)
c.*774A>G (n.*774A>G)
c.*2488A>G (n.*2488A>G)
c.4107A>G (p.Glu1369=)
c.*3937A>G (n.*3937A>G)
c.3687A>G (p.Glu1229=)
n.2281A>G
c.977A>G (n.977A>G)
c.1900A>G (n.1900A>G)
c.695A>G
c.1563A>G
c.4023A>G (p.Glu1341=)
c.239A>G
c.4203A>G (p.Glu1401=)
c.3870A>G (p.Glu1290=)
dbSNP
7g.117664837A>TCA368982967CFTRc.*322A>T (n.*322A>T)
c.*3827A>T (n.*3827A>T)
c.3930A>T (p.Glu1310Asp)
c.*326A>T (n.*326A>T)
c.*766A>T (n.*766A>T)
c.4113A>T (p.Glu1371Asp)
c.*774A>T (n.*774A>T)
c.*2488A>T (n.*2488A>T)
c.4107A>T (p.Glu1369Asp)
c.*3937A>T (n.*3937A>T)
c.3687A>T (p.Glu1229Asp)
n.2281A>T
c.977A>T (n.977A>T)
c.1900A>T (n.1900A>T)
c.695A>T
c.1563A>T
c.4023A>T (p.Glu1341Asp)
c.239A>T
c.4203A>T (p.Glu1401Asp)
c.3870A>T (p.Glu1290Asp)
7g.117664838C>ACA327406CFTRc.*323C>A (n.*323C>A)
c.*3828C>A (n.*3828C>A)
c.3931C>A (p.Pro1311Thr)
c.*327C>A (n.*327C>A)
c.*767C>A (n.*767C>A)
c.4114C>A (p.Pro1372Thr)
c.*775C>A (n.*775C>A)
c.*2489C>A (n.*2489C>A)
c.4108C>A (p.Pro1370Thr)
c.*3938C>A (n.*3938C>A)
c.3688C>A (p.Pro1230Thr)
n.2282C>A
c.978C>A (n.978C>A)
c.1901C>A (n.1901C>A)
c.696C>A
c.1564C>A
c.4024C>A (p.Pro1342Thr)
c.240C>A
c.4204C>A (p.Pro1402Thr)
c.3871C>A (p.Pro1291Thr)
ClinVar dbSNP
7g.117664838C=CA1737422188CFTRc.*323C= (n.*323C=)
c.*3828C= (n.*3828C=)
c.3931C= (p.Pro1311=)
c.*327C= (n.*327C=)
c.*767C= (n.*767C=)
c.4114C= (p.Pro1372=)
c.*775C= (n.*775C=)
c.*2489C= (n.*2489C=)
c.4108C= (p.Pro1370=)
c.*3938C= (n.*3938C=)
c.3688C= (p.Pro1230=)
n.2282C=
c.978C= (n.978C=)
c.1901C= (n.1901C=)
c.696C=
c.1564C=
c.4024C= (p.Pro1342=)
c.240C=
c.4204C= (p.Pro1402=)
c.3871C= (p.Pro1291=)
7g.117664838C>GCA368982973CFTRc.*323C>G (n.*323C>G)
c.*3828C>G (n.*3828C>G)
c.3931C>G (p.Pro1311Ala)
c.*327C>G (n.*327C>G)
c.*767C>G (n.*767C>G)
c.4114C>G (p.Pro1372Ala)
c.*775C>G (n.*775C>G)
c.*2489C>G (n.*2489C>G)
c.4108C>G (p.Pro1370Ala)
c.*3938C>G (n.*3938C>G)
c.3688C>G (p.Pro1230Ala)
n.2282C>G
c.978C>G (n.978C>G)
c.1901C>G (n.1901C>G)
c.696C>G
c.1564C>G
c.4024C>G (p.Pro1342Ala)
c.240C>G
c.4204C>G (p.Pro1402Ala)
c.3871C>G (p.Pro1291Ala)
7g.117664838C>TCA368982977CFTRc.*323C>T (n.*323C>T)
c.*3828C>T (n.*3828C>T)
c.3931C>T (p.Pro1311Ser)
c.*327C>T (n.*327C>T)
c.*767C>T (n.*767C>T)
c.4114C>T (p.Pro1372Ser)
c.*775C>T (n.*775C>T)
c.*2489C>T (n.*2489C>T)
c.4108C>T (p.Pro1370Ser)
c.*3938C>T (n.*3938C>T)
c.3688C>T (p.Pro1230Ser)
n.2282C>T
c.978C>T (n.978C>T)
c.1901C>T (n.1901C>T)
c.696C>T
c.1564C>T
c.4024C>T (p.Pro1342Ser)
c.240C>T
c.4204C>T (p.Pro1402Ser)
c.3871C>T (p.Pro1291Ser)
7g.117664839C>ACA368982981CFTRc.*324C>A (n.*324C>A)
c.*3829C>A (n.*3829C>A)
c.3932C>A (p.Pro1311His)
c.*328C>A (n.*328C>A)
c.*768C>A (n.*768C>A)
c.4115C>A (p.Pro1372His)
c.*776C>A (n.*776C>A)
c.*2490C>A (n.*2490C>A)
c.4109C>A (p.Pro1370His)
c.*3939C>A (n.*3939C>A)
c.3689C>A (p.Pro1230His)
n.2283C>A
c.979C>A (n.979C>A)
c.1902C>A (n.1902C>A)
c.697C>A
c.1565C>A
c.4025C>A (p.Pro1342His)
c.241C>A
c.4205C>A (p.Pro1402His)
c.3872C>A (p.Pro1291His)
gnomAD v4
7g.117664839C=CA1737422190CFTRc.*324C= (n.*324C=)
c.*3829C= (n.*3829C=)
c.3932C= (p.Pro1311=)
c.*328C= (n.*328C=)
c.*768C= (n.*768C=)
c.4115C= (p.Pro1372=)
c.*776C= (n.*776C=)
c.*2490C= (n.*2490C=)
c.4109C= (p.Pro1370=)
c.*3939C= (n.*3939C=)
c.3689C= (p.Pro1230=)
n.2283C=
c.979C= (n.979C=)
c.1902C= (n.1902C=)
c.697C=
c.1565C=
c.4025C= (p.Pro1342=)
c.241C=
c.4205C= (p.Pro1402=)
c.3872C= (p.Pro1291=)
7g.117664839C>GCA368982982CFTRc.*324C>G (n.*324C>G)
c.*3829C>G (n.*3829C>G)
c.3932C>G (p.Pro1311Arg)
c.*328C>G (n.*328C>G)
c.*768C>G (n.*768C>G)
c.4115C>G (p.Pro1372Arg)
c.*776C>G (n.*776C>G)
c.*2490C>G (n.*2490C>G)
c.4109C>G (p.Pro1370Arg)
c.*3939C>G (n.*3939C>G)
c.3689C>G (p.Pro1230Arg)
n.2283C>G
c.979C>G (n.979C>G)
c.1902C>G (n.1902C>G)
c.697C>G
c.1565C>G
c.4025C>G (p.Pro1342Arg)
c.241C>G
c.4205C>G (p.Pro1402Arg)
c.3872C>G (p.Pro1291Arg)
7g.117664839C>TCA327408CFTRc.*324C>T (n.*324C>T)
c.*3829C>T (n.*3829C>T)
c.3932C>T (p.Pro1311Leu)
c.*328C>T (n.*328C>T)
c.*768C>T (n.*768C>T)
c.4115C>T (p.Pro1372Leu)
c.*776C>T (n.*776C>T)
c.*2490C>T (n.*2490C>T)
c.4109C>T (p.Pro1370Leu)
c.*3939C>T (n.*3939C>T)
c.3689C>T (p.Pro1230Leu)
n.2283C>T
c.979C>T (n.979C>T)
c.1902C>T (n.1902C>T)
c.697C>T
c.1565C>T
c.4025C>T (p.Pro1342Leu)
c.241C>T
c.4205C>T (p.Pro1402Leu)
c.3872C>T (p.Pro1291Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117664840C>ACA457230554CFTRc.*325C>A (n.*325C>A)
c.*3830C>A (n.*3830C>A)
c.3933C>A (p.Pro1311=)
c.*329C>A (n.*329C>A)
c.*769C>A (n.*769C>A)
c.4116C>A (p.Pro1372=)
c.*777C>A (n.*777C>A)
c.*2491C>A (n.*2491C>A)
c.4110C>A (p.Pro1370=)
c.*3940C>A (n.*3940C>A)
c.3690C>A (p.Pro1230=)
n.2284C>A
c.980C>A (n.980C>A)
c.1903C>A (n.1903C>A)
c.698C>A
c.1566C>A
c.4026C>A (p.Pro1342=)
c.242C>A
c.4206C>A (p.Pro1402=)
c.3873C>A (p.Pro1291=)
7g.117664840C=CA1737422194CFTRc.*325C= (n.*325C=)
c.*3830C= (n.*3830C=)
c.3933C= (p.Pro1311=)
c.*329C= (n.*329C=)
c.*769C= (n.*769C=)
c.4116C= (p.Pro1372=)
c.*777C= (n.*777C=)
c.*2491C= (n.*2491C=)
c.4110C= (p.Pro1370=)
c.*3940C= (n.*3940C=)
c.3690C= (p.Pro1230=)
n.2284C=
c.980C= (n.980C=)
c.1903C= (n.1903C=)
c.698C=
c.1566C=
c.4026C= (p.Pro1342=)
c.242C=
c.4206C= (p.Pro1402=)
c.3873C= (p.Pro1291=)
7g.117664840C>GCA457230556CFTRc.*325C>G (n.*325C>G)
c.*3830C>G (n.*3830C>G)
c.3933C>G (p.Pro1311=)
c.*329C>G (n.*329C>G)
c.*769C>G (n.*769C>G)
c.4116C>G (p.Pro1372=)
c.*777C>G (n.*777C>G)
c.*2491C>G (n.*2491C>G)
c.4110C>G (p.Pro1370=)
c.*3940C>G (n.*3940C>G)
c.3690C>G (p.Pro1230=)
n.2284C>G
c.980C>G (n.980C>G)
c.1903C>G (n.1903C>G)
c.698C>G
c.1566C>G
c.4026C>G (p.Pro1342=)
c.242C>G
c.4206C>G (p.Pro1402=)
c.3873C>G (p.Pro1291=)
7g.117664840C>TCA457230559CFTRc.*325C>T (n.*325C>T)
c.*3830C>T (n.*3830C>T)
c.3933C>T (p.Pro1311=)
c.*329C>T (n.*329C>T)
c.*769C>T (n.*769C>T)
c.4116C>T (p.Pro1372=)
c.*777C>T (n.*777C>T)
c.*2491C>T (n.*2491C>T)
c.4110C>T (p.Pro1370=)
c.*3940C>T (n.*3940C>T)
c.3690C>T (p.Pro1230=)
n.2284C>T
c.980C>T (n.980C>T)
c.1903C>T (n.1903C>T)
c.698C>T
c.1566C>T
c.4026C>T (p.Pro1342=)
c.242C>T
c.4206C>T (p.Pro1402=)
c.3873C>T (p.Pro1291=)
ClinVar dbSNP gnomAD v4
7g.117664841A>CCA368982990CFTRc.*326A>C (n.*326A>C)
c.*3831A>C (n.*3831A>C)
c.3934A>C (p.Ser1312Arg)
c.*330A>C (n.*330A>C)
c.*770A>C (n.*770A>C)
c.4117A>C (p.Ser1373Arg)
c.*778A>C (n.*778A>C)
c.*2492A>C (n.*2492A>C)
c.4111A>C (p.Ser1371Arg)
c.*3941A>C (n.*3941A>C)
c.3691A>C (p.Ser1231Arg)
n.2285A>C
c.981A>C (n.981A>C)
c.1904A>C (n.1904A>C)
c.699A>C
c.1567A>C
c.4027A>C (p.Ser1343Arg)
c.243A>C
c.4207A>C (p.Ser1403Arg)
c.3874A>C (p.Ser1292Arg)
7g.117664841A>GCA368982993CFTRc.*326A>G (n.*326A>G)
c.*3831A>G (n.*3831A>G)
c.3934A>G (p.Ser1312Gly)
c.*330A>G (n.*330A>G)
c.*770A>G (n.*770A>G)
c.4117A>G (p.Ser1373Gly)
c.*778A>G (n.*778A>G)
c.*2492A>G (n.*2492A>G)
c.4111A>G (p.Ser1371Gly)
c.*3941A>G (n.*3941A>G)
c.3691A>G (p.Ser1231Gly)
n.2285A>G
c.981A>G (n.981A>G)
c.1904A>G (n.1904A>G)
c.699A>G
c.1567A>G
c.4027A>G (p.Ser1343Gly)
c.243A>G
c.4207A>G (p.Ser1403Gly)
c.3874A>G (p.Ser1292Gly)
7g.117664841A>TCA368982998CFTRc.*326A>T (n.*326A>T)
c.*3831A>T (n.*3831A>T)
c.3934A>T (p.Ser1312Cys)
c.*330A>T (n.*330A>T)
c.*770A>T (n.*770A>T)
c.4117A>T (p.Ser1373Cys)
c.*778A>T (n.*778A>T)
c.*2492A>T (n.*2492A>T)
c.4111A>T (p.Ser1371Cys)
c.*3941A>T (n.*3941A>T)
c.3691A>T (p.Ser1231Cys)
n.2285A>T
c.981A>T (n.981A>T)
c.1904A>T (n.1904A>T)
c.699A>T
c.1567A>T
c.4027A>T (p.Ser1343Cys)
c.243A>T
c.4207A>T (p.Ser1403Cys)
c.3874A>T (p.Ser1292Cys)
7g.117664841_117664842insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAGCA2547344215CFTRc.*326_*327insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (n.*326_*327insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG)
c.*3831_*3832insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (n.*3831_*3832insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG)
c.3934_3935insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (p.Ser1312ThrfsTer46)
c.*330_*331insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (n.*330_*331insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG)
c.*770_*771insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (n.*770_*771insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG)
c.4117_4118insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (p.Ser1373ThrfsTer46)
c.*778_*779insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (n.*778_*779insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG)
c.*2492_*2493insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (n.*2492_*2493insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG)
c.4111_4112insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (p.Ser1371ThrfsTer46)
c.*3941_*3942insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (n.*3941_*3942insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG)
c.3691_3692insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (p.Ser1231ThrfsTer46)
n.2285_2286insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG
c.981_982insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (n.981_982insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG)
c.1904_1905insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (n.1904_1905insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG)
c.699_700insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG
c.1567_1568insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG
c.4027_4028insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (p.Ser1343ThrfsTer46)
c.243_244insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG
c.4207_4208insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (p.Ser1403ThrfsTer46)
c.3874_3875insCCAACGGACTTGATGCAAAAAATAAAGCAAAATTGATCGCTTTATTGCAAGGCTTGGAATTACCAATGCTGATTGCTAGCCACGATTTGGCGTTTAGTGAGGCGTTAGCGGACGAG (p.Ser1292ThrfsTer46)
7g.117664842G>ACA368983014CFTRc.*327G>A (n.*327G>A)
c.*3832G>A (n.*3832G>A)
c.3935G>A (p.Ser1312Asn)
c.*331G>A (n.*331G>A)
c.*771G>A (n.*771G>A)
c.4118G>A (p.Ser1373Asn)
c.*779G>A (n.*779G>A)
c.*2493G>A (n.*2493G>A)
c.4112G>A (p.Ser1371Asn)
c.*3942G>A (n.*3942G>A)
c.3692G>A (p.Ser1231Asn)
n.2286G>A
c.982G>A (n.982G>A)
c.1905G>A (n.1905G>A)
c.700G>A
c.1568G>A
c.4028G>A (p.Ser1343Asn)
c.244G>A
c.4208G>A (p.Ser1403Asn)
c.3875G>A (p.Ser1292Asn)
7g.117664842G>CCA368983011CFTRc.*327G>C (n.*327G>C)
c.*3832G>C (n.*3832G>C)
c.3935G>C (p.Ser1312Thr)
c.*331G>C (n.*331G>C)
c.*771G>C (n.*771G>C)
c.4118G>C (p.Ser1373Thr)
c.*779G>C (n.*779G>C)
c.*2493G>C (n.*2493G>C)
c.4112G>C (p.Ser1371Thr)
c.*3942G>C (n.*3942G>C)
c.3692G>C (p.Ser1231Thr)
n.2286G>C
c.982G>C (n.982G>C)
c.1905G>C (n.1905G>C)
c.700G>C
c.1568G>C
c.4028G>C (p.Ser1343Thr)
c.244G>C
c.4208G>C (p.Ser1403Thr)
c.3875G>C (p.Ser1292Thr)
7g.117664842G=CA1737422202CFTRc.*327G= (n.*327G=)
c.*3832G= (n.*3832G=)
c.3935G= (p.Ser1312=)
c.*331G= (n.*331G=)
c.*771G= (n.*771G=)
c.4118G= (p.Ser1373=)
c.*779G= (n.*779G=)
c.*2493G= (n.*2493G=)
c.4112G= (p.Ser1371=)
c.*3942G= (n.*3942G=)
c.3692G= (p.Ser1231=)
n.2286G=
c.982G= (n.982G=)
c.1905G= (n.1905G=)
c.700G=
c.1568G=
c.4028G= (p.Ser1343=)
c.244G=
c.4208G= (p.Ser1403=)
c.3875G= (p.Ser1292=)
7g.117664842G>TCA231021CFTRc.*327G>T (n.*327G>T)
c.*3832G>T (n.*3832G>T)
c.3935G>T (p.Ser1312Ile)
c.*331G>T (n.*331G>T)
c.*771G>T (n.*771G>T)
c.4118G>T (p.Ser1373Ile)
c.*779G>T (n.*779G>T)
c.*2493G>T (n.*2493G>T)
c.4112G>T (p.Ser1371Ile)
c.*3942G>T (n.*3942G>T)
c.3692G>T (p.Ser1231Ile)
n.2286G>T
c.982G>T (n.982G>T)
c.1905G>T (n.1905G>T)
c.700G>T
c.1568G>T
c.4028G>T (p.Ser1343Ile)
c.244G>T
c.4208G>T (p.Ser1403Ile)
c.3875G>T (p.Ser1292Ile)
ClinVar dbSNP
7g.117664843T>ACA368983017CFTRc.*328T>A (n.*328T>A)
c.*3833T>A (n.*3833T>A)
c.3936T>A (p.Ser1312Arg)
c.*332T>A (n.*332T>A)
c.*772T>A (n.*772T>A)
c.4119T>A (p.Ser1373Arg)
c.*780T>A (n.*780T>A)
c.*2494T>A (n.*2494T>A)
c.4113T>A (p.Ser1371Arg)
c.*3943T>A (n.*3943T>A)
c.3693T>A (p.Ser1231Arg)
n.2287T>A
c.983T>A (n.983T>A)
c.1906T>A (n.1906T>A)
c.701T>A
c.1569T>A
c.4029T>A (p.Ser1343Arg)
c.245T>A
c.4209T>A (p.Ser1403Arg)
c.3876T>A (p.Ser1292Arg)
gnomAD v4
7g.117664843T>CCA457230572CFTRc.*328T>C (n.*328T>C)
c.*3833T>C (n.*3833T>C)
c.3936T>C (p.Ser1312=)
c.*332T>C (n.*332T>C)
c.*772T>C (n.*772T>C)
c.4119T>C (p.Ser1373=)
c.*780T>C (n.*780T>C)
c.*2494T>C (n.*2494T>C)
c.4113T>C (p.Ser1371=)
c.*3943T>C (n.*3943T>C)
c.3693T>C (p.Ser1231=)
n.2287T>C
c.983T>C (n.983T>C)
c.1906T>C (n.1906T>C)
c.701T>C
c.1569T>C
c.4029T>C (p.Ser1343=)
c.245T>C
c.4209T>C (p.Ser1403=)
c.3876T>C (p.Ser1292=)
7g.117664843T>GCA368983022CFTRc.*328T>G (n.*328T>G)
c.*3833T>G (n.*3833T>G)
c.3936T>G (p.Ser1312Arg)
c.*332T>G (n.*332T>G)
c.*772T>G (n.*772T>G)
c.4119T>G (p.Ser1373Arg)
c.*780T>G (n.*780T>G)
c.*2494T>G (n.*2494T>G)
c.4113T>G (p.Ser1371Arg)
c.*3943T>G (n.*3943T>G)
c.3693T>G (p.Ser1231Arg)
n.2287T>G
c.983T>G (n.983T>G)
c.1906T>G (n.1906T>G)
c.701T>G
c.1569T>G
c.4029T>G (p.Ser1343Arg)
c.245T>G
c.4209T>G (p.Ser1403Arg)
c.3876T>G (p.Ser1292Arg)
gnomAD v4
7g.117664844G>ACA368983027CFTRc.*329G>A (n.*329G>A)
c.*3834G>A (n.*3834G>A)
c.3937G>A (p.Ala1313Thr)
c.*333G>A (n.*333G>A)
c.*773G>A (n.*773G>A)
c.4120G>A (p.Ala1374Thr)
c.*781G>A (n.*781G>A)
c.*2495G>A (n.*2495G>A)
c.4114G>A (p.Ala1372Thr)
c.*3944G>A (n.*3944G>A)
c.3694G>A (p.Ala1232Thr)
n.2288G>A
c.984G>A (n.984G>A)
c.1907G>A (n.1907G>A)
c.702G>A
c.1570G>A
c.4030G>A (p.Ala1344Thr)
c.246G>A
c.4210G>A (p.Ala1404Thr)
c.3877G>A (p.Ala1293Thr)
7g.117664844G>CCA368983031CFTRc.*329G>C (n.*329G>C)
c.*3834G>C (n.*3834G>C)
c.3937G>C (p.Ala1313Pro)
c.*333G>C (n.*333G>C)
c.*773G>C (n.*773G>C)
c.4120G>C (p.Ala1374Pro)
c.*781G>C (n.*781G>C)
c.*2495G>C (n.*2495G>C)
c.4114G>C (p.Ala1372Pro)
c.*3944G>C (n.*3944G>C)
c.3694G>C (p.Ala1232Pro)
n.2288G>C
c.984G>C (n.984G>C)
c.1907G>C (n.1907G>C)
c.702G>C
c.1570G>C
c.4030G>C (p.Ala1344Pro)
c.246G>C
c.4210G>C (p.Ala1404Pro)
c.3877G>C (p.Ala1293Pro)
7g.117664844G>TCA368983034CFTRc.*329G>T (n.*329G>T)
c.*3834G>T (n.*3834G>T)
c.3937G>T (p.Ala1313Ser)
c.*333G>T (n.*333G>T)
c.*773G>T (n.*773G>T)
c.4120G>T (p.Ala1374Ser)
c.*781G>T (n.*781G>T)
c.*2495G>T (n.*2495G>T)
c.4114G>T (p.Ala1372Ser)
c.*3944G>T (n.*3944G>T)
c.3694G>T (p.Ala1232Ser)
n.2288G>T
c.984G>T (n.984G>T)
c.1907G>T (n.1907G>T)
c.702G>T
c.1570G>T
c.4030G>T (p.Ala1344Ser)
c.246G>T
c.4210G>T (p.Ala1404Ser)
c.3877G>T (p.Ala1293Ser)
7g.117664845C>ACA368983039CFTRc.*330C>A (n.*330C>A)
c.*3835C>A (n.*3835C>A)
c.3938C>A (p.Ala1313Asp)
c.*334C>A (n.*334C>A)
c.*774C>A (n.*774C>A)
c.4121C>A (p.Ala1374Asp)
c.*782C>A (n.*782C>A)
c.*2496C>A (n.*2496C>A)
c.4115C>A (p.Ala1372Asp)
c.*3945C>A (n.*3945C>A)
c.3695C>A (p.Ala1232Asp)
n.2289C>A
c.985C>A (n.985C>A)
c.1908C>A (n.1908C>A)
c.703C>A
c.1571C>A
c.4031C>A (p.Ala1344Asp)
c.247C>A
c.4211C>A (p.Ala1404Asp)
c.3878C>A (p.Ala1293Asp)
7g.117664845C=CA1737422211CFTRc.*330C= (n.*330C=)
c.*3835C= (n.*3835C=)
c.3938C= (p.Ala1313=)
c.*334C= (n.*334C=)
c.*774C= (n.*774C=)
c.4121C= (p.Ala1374=)
c.*782C= (n.*782C=)
c.*2496C= (n.*2496C=)
c.4115C= (p.Ala1372=)
c.*3945C= (n.*3945C=)
c.3695C= (p.Ala1232=)
n.2289C=
c.985C= (n.985C=)
c.1908C= (n.1908C=)
c.703C=
c.1571C=
c.4031C= (p.Ala1344=)
c.247C=
c.4211C= (p.Ala1404=)
c.3878C= (p.Ala1293=)
7g.117664845C>GCA164960299CFTRc.*330C>G (n.*330C>G)
c.*3835C>G (n.*3835C>G)
c.3938C>G (p.Ala1313Gly)
c.*334C>G (n.*334C>G)
c.*774C>G (n.*774C>G)
c.4121C>G (p.Ala1374Gly)
c.*782C>G (n.*782C>G)
c.*2496C>G (n.*2496C>G)
c.4115C>G (p.Ala1372Gly)
c.*3945C>G (n.*3945C>G)
c.3695C>G (p.Ala1232Gly)
n.2289C>G
c.985C>G (n.985C>G)
c.1908C>G (n.1908C>G)
c.703C>G
c.1571C>G
c.4031C>G (p.Ala1344Gly)
c.247C>G
c.4211C>G (p.Ala1404Gly)
c.3878C>G (p.Ala1293Gly)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117664845C>TCA368983044CFTRc.*330C>T (n.*330C>T)
c.*3835C>T (n.*3835C>T)
c.3938C>T (p.Ala1313Val)
c.*334C>T (n.*334C>T)
c.*774C>T (n.*774C>T)
c.4121C>T (p.Ala1374Val)
c.*782C>T (n.*782C>T)
c.*2496C>T (n.*2496C>T)
c.4115C>T (p.Ala1372Val)
c.*3945C>T (n.*3945C>T)
c.3695C>T (p.Ala1232Val)
n.2289C>T
c.985C>T (n.985C>T)
c.1908C>T (n.1908C>T)
c.703C>T
c.1571C>T
c.4031C>T (p.Ala1344Val)
c.247C>T
c.4211C>T (p.Ala1404Val)
c.3878C>T (p.Ala1293Val)
gnomAD v4 COSMIC
7g.117664846T>ACA457230588CFTRc.*331T>A (n.*331T>A)
c.*3836T>A (n.*3836T>A)
c.3939T>A (p.Ala1313=)
c.*335T>A (n.*335T>A)
c.*775T>A (n.*775T>A)
c.4122T>A (p.Ala1374=)
c.*783T>A (n.*783T>A)
c.*2497T>A (n.*2497T>A)
c.4116T>A (p.Ala1372=)
c.*3946T>A (n.*3946T>A)
c.3696T>A (p.Ala1232=)
n.2290T>A
c.986T>A (n.986T>A)
c.1909T>A (n.1909T>A)
c.704T>A
c.1572T>A
c.4032T>A (p.Ala1344=)
c.248T>A
c.4212T>A (p.Ala1404=)
c.3879T>A (p.Ala1293=)
7g.117664846T>CCA457230582CFTRc.*331T>C (n.*331T>C)
c.*3836T>C (n.*3836T>C)
c.3939T>C (p.Ala1313=)
c.*335T>C (n.*335T>C)
c.*775T>C (n.*775T>C)
c.4122T>C (p.Ala1374=)
c.*783T>C (n.*783T>C)
c.*2497T>C (n.*2497T>C)
c.4116T>C (p.Ala1372=)
c.*3946T>C (n.*3946T>C)
c.3696T>C (p.Ala1232=)
n.2290T>C
c.986T>C (n.986T>C)
c.1909T>C (n.1909T>C)
c.704T>C
c.1572T>C
c.4032T>C (p.Ala1344=)
c.248T>C
c.4212T>C (p.Ala1404=)
c.3879T>C (p.Ala1293=)

Number of alleles fetched