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.117665454dupCA577227073CFTRc.*346-5dup (n.*346-5dup)
c.*3851-5dup (n.*3851-5dup)
c.3954-5dup (n.3954-5dup)
c.*350-5dup (n.*350-5dup)
c.*790-5dup (n.*790-5dup)
c.4137-5dup (n.4137-5dup)
c.*798-5dup (n.*798-5dup)
c.*2512-5dup (n.*2512-5dup)
c.4131-5dup (n.4131-5dup)
c.*3961-5dup (n.*3961-5dup)
c.3711-5dup (n.3711-5dup)
n.2305-5dup
c.1001-5dup (n.1001-5dup)
c.1924-5dup (n.1924-5dup)
c.719-5dup
c.1587-5dup
c.4047-5dup (n.4047-5dup)
c.263-5dup
c.4227-5dup (n.4227-5dup)
c.3894-5dup (n.3894-5dup)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117665454T>CCA2684649316CFTRc.*346-5T>C (n.*346-5T>C)
c.*3851-5T>C (n.*3851-5T>C)
c.3954-5T>C (n.3954-5T>C)
c.*350-5T>C (n.*350-5T>C)
c.*790-5T>C (n.*790-5T>C)
c.4137-5T>C (n.4137-5T>C)
c.*798-5T>C (n.*798-5T>C)
c.*2512-5T>C (n.*2512-5T>C)
c.4131-5T>C (n.4131-5T>C)
c.*3961-5T>C (n.*3961-5T>C)
c.3711-5T>C (n.3711-5T>C)
n.2305-5T>C
c.1001-5T>C (n.1001-5T>C)
c.1924-5T>C (n.1924-5T>C)
c.719-5T>C
c.1587-5T>C
c.4047-5T>C (n.4047-5T>C)
c.263-5T>C
c.4227-5T>C (n.4227-5T>C)
c.3894-5T>C (n.3894-5T>C)
 gnomAD v4
7g.117665455C>ACA4451651CFTRc.*346-4C>A (n.*346-4C>A)
c.*3851-4C>A (n.*3851-4C>A)
c.3954-4C>A (n.3954-4C>A)
c.*350-4C>A (n.*350-4C>A)
c.*790-4C>A (n.*790-4C>A)
c.4137-4C>A (n.4137-4C>A)
c.*798-4C>A (n.*798-4C>A)
c.*2512-4C>A (n.*2512-4C>A)
c.4131-4C>A (n.4131-4C>A)
c.*3961-4C>A (n.*3961-4C>A)
c.3711-4C>A (n.3711-4C>A)
n.2305-4C>A
c.1001-4C>A (n.1001-4C>A)
c.1924-4C>A (n.1924-4C>A)
c.719-4C>A
c.1587-4C>A
c.4047-4C>A (n.4047-4C>A)
c.263-4C>A
c.4227-4C>A (n.4227-4C>A)
c.3894-4C>A (n.3894-4C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117665455C=CA1737422706CFTRc.*346-4C= (n.*346-4C=)
c.*3851-4C= (n.*3851-4C=)
c.3954-4C= (n.3954-4C=)
c.*350-4C= (n.*350-4C=)
c.*790-4C= (n.*790-4C=)
c.4137-4C= (n.4137-4C=)
c.*798-4C= (n.*798-4C=)
c.*2512-4C= (n.*2512-4C=)
c.4131-4C= (n.4131-4C=)
c.*3961-4C= (n.*3961-4C=)
c.3711-4C= (n.3711-4C=)
n.2305-4C=
c.1001-4C= (n.1001-4C=)
c.1924-4C= (n.1924-4C=)
c.719-4C=
c.1587-4C=
c.4047-4C= (n.4047-4C=)
c.263-4C=
c.4227-4C= (n.4227-4C=)
c.3894-4C= (n.3894-4C=)
7g.117665455C>TCA2573141571CFTRc.*346-4C>T (n.*346-4C>T)
c.*3851-4C>T (n.*3851-4C>T)
c.3954-4C>T (n.3954-4C>T)
c.*350-4C>T (n.*350-4C>T)
c.*790-4C>T (n.*790-4C>T)
c.4137-4C>T (n.4137-4C>T)
c.*798-4C>T (n.*798-4C>T)
c.*2512-4C>T (n.*2512-4C>T)
c.4131-4C>T (n.4131-4C>T)
c.*3961-4C>T (n.*3961-4C>T)
c.3711-4C>T (n.3711-4C>T)
n.2305-4C>T
c.1001-4C>T (n.1001-4C>T)
c.1924-4C>T (n.1924-4C>T)
c.719-4C>T
c.1587-4C>T
c.4047-4C>T (n.4047-4C>T)
c.263-4C>T
c.4227-4C>T (n.4227-4C>T)
c.3894-4C>T (n.3894-4C>T)
 ClinVar dbSNP gnomAD v4
7g.117665456T>CCA2684649317CFTRc.*346-3T>C (n.*346-3T>C)
c.*3851-3T>C (n.*3851-3T>C)
c.3954-3T>C (n.3954-3T>C)
c.*350-3T>C (n.*350-3T>C)
c.*790-3T>C (n.*790-3T>C)
c.4137-3T>C (n.4137-3T>C)
c.*798-3T>C (n.*798-3T>C)
c.*2512-3T>C (n.*2512-3T>C)
c.4131-3T>C (n.4131-3T>C)
c.*3961-3T>C (n.*3961-3T>C)
c.3711-3T>C (n.3711-3T>C)
n.2305-3T>C
c.1001-3T>C (n.1001-3T>C)
c.1924-3T>C (n.1924-3T>C)
c.719-3T>C
c.1587-3T>C
c.4047-3T>C (n.4047-3T>C)
c.263-3T>C
c.4227-3T>C (n.4227-3T>C)
c.3894-3T>C (n.3894-3T>C)
 gnomAD v4
7g.117665457delCA2579000440CFTRc.*346-2del (n.*346-2del)
c.*3851-2del (n.*3851-2del)
c.3954-2del (n.3954-2del)
c.*350-2del (n.*350-2del)
c.*790-2del (n.*790-2del)
c.4137-2del (n.4137-2del)
c.*798-2del (n.*798-2del)
c.*2512-2del (n.*2512-2del)
c.4131-2del (n.4131-2del)
c.*3961-2del (n.*3961-2del)
c.3711-2del (n.3711-2del)
n.2305-2del
c.1001-2del (n.1001-2del)
c.1924-2del (n.1924-2del)
c.719-2del
c.1587-2del
c.4047-2del (n.4047-2del)
c.263-2del
c.4227-2del (n.4227-2del)
c.3894-2del (n.3894-2del)
7g.117665457A=CA1737422707CFTRc.*346-2A= (n.*346-2A=)
c.*3851-2A= (n.*3851-2A=)
c.3954-2A= (n.3954-2A=)
c.*350-2A= (n.*350-2A=)
c.*790-2A= (n.*790-2A=)
c.4137-2A= (n.4137-2A=)
c.*798-2A= (n.*798-2A=)
c.*2512-2A= (n.*2512-2A=)
c.4131-2A= (n.4131-2A=)
c.*3961-2A= (n.*3961-2A=)
c.3711-2A= (n.3711-2A=)
n.2305-2A=
c.1001-2A= (n.1001-2A=)
c.1924-2A= (n.1924-2A=)
c.719-2A=
c.1587-2A=
c.4047-2A= (n.4047-2A=)
c.263-2A=
c.4227-2A= (n.4227-2A=)
c.3894-2A= (n.3894-2A=)
7g.117665457A>CCA368983293CFTRc.*346-2A>C (n.*346-2A>C)
c.*3851-2A>C (n.*3851-2A>C)
c.3954-2A>C (n.3954-2A>C)
c.*350-2A>C (n.*350-2A>C)
c.*790-2A>C (n.*790-2A>C)
c.4137-2A>C (n.4137-2A>C)
c.*798-2A>C (n.*798-2A>C)
c.*2512-2A>C (n.*2512-2A>C)
c.4131-2A>C (n.4131-2A>C)
c.*3961-2A>C (n.*3961-2A>C)
c.3711-2A>C (n.3711-2A>C)
n.2305-2A>C
c.1001-2A>C (n.1001-2A>C)
c.1924-2A>C (n.1924-2A>C)
c.719-2A>C
c.1587-2A>C
c.4047-2A>C (n.4047-2A>C)
c.263-2A>C
c.4227-2A>C (n.4227-2A>C)
c.3894-2A>C (n.3894-2A>C)
7g.117665457A>GCA368983295CFTRc.*346-2A>G (n.*346-2A>G)
c.*3851-2A>G (n.*3851-2A>G)
c.3954-2A>G (n.3954-2A>G)
c.*350-2A>G (n.*350-2A>G)
c.*790-2A>G (n.*790-2A>G)
c.4137-2A>G (n.4137-2A>G)
c.*798-2A>G (n.*798-2A>G)
c.*2512-2A>G (n.*2512-2A>G)
c.4131-2A>G (n.4131-2A>G)
c.*3961-2A>G (n.*3961-2A>G)
c.3711-2A>G (n.3711-2A>G)
n.2305-2A>G
c.1001-2A>G (n.1001-2A>G)
c.1924-2A>G (n.1924-2A>G)
c.719-2A>G
c.1587-2A>G
c.4047-2A>G (n.4047-2A>G)
c.263-2A>G
c.4227-2A>G (n.4227-2A>G)
c.3894-2A>G (n.3894-2A>G)
 dbSNP gnomAD v3 gnomAD v4
7g.117665457A>TCA368983297CFTRc.*346-2A>T (n.*346-2A>T)
c.*3851-2A>T (n.*3851-2A>T)
c.3954-2A>T (n.3954-2A>T)
c.*350-2A>T (n.*350-2A>T)
c.*790-2A>T (n.*790-2A>T)
c.4137-2A>T (n.4137-2A>T)
c.*798-2A>T (n.*798-2A>T)
c.*2512-2A>T (n.*2512-2A>T)
c.4131-2A>T (n.4131-2A>T)
c.*3961-2A>T (n.*3961-2A>T)
c.3711-2A>T (n.3711-2A>T)
n.2305-2A>T
c.1001-2A>T (n.1001-2A>T)
c.1924-2A>T (n.1924-2A>T)
c.719-2A>T
c.1587-2A>T
c.4047-2A>T (n.4047-2A>T)
c.263-2A>T
c.4227-2A>T (n.4227-2A>T)
c.3894-2A>T (n.3894-2A>T)
7g.117665458G>ACA368983299CFTRc.*346-1G>A (n.*346-1G>A)
c.*3851-1G>A (n.*3851-1G>A)
c.3954-1G>A (n.3954-1G>A)
c.*350-1G>A (n.*350-1G>A)
c.*790-1G>A (n.*790-1G>A)
c.4137-1G>A (n.4137-1G>A)
c.*798-1G>A (n.*798-1G>A)
c.*2512-1G>A (n.*2512-1G>A)
c.4131-1G>A (n.4131-1G>A)
c.*3961-1G>A (n.*3961-1G>A)
c.3711-1G>A (n.3711-1G>A)
n.2305-1G>A
c.1001-1G>A (n.1001-1G>A)
c.1924-1G>A (n.1924-1G>A)
c.719-1G>A
c.1587-1G>A
c.4047-1G>A (n.4047-1G>A)
c.263-1G>A
c.4227-1G>A (n.4227-1G>A)
c.3894-1G>A (n.3894-1G>A)
 gnomAD v4
7g.117665458G>CCA368983301CFTRc.*346-1G>C (n.*346-1G>C)
c.*3851-1G>C (n.*3851-1G>C)
c.3954-1G>C (n.3954-1G>C)
c.*350-1G>C (n.*350-1G>C)
c.*790-1G>C (n.*790-1G>C)
c.4137-1G>C (n.4137-1G>C)
c.*798-1G>C (n.*798-1G>C)
c.*2512-1G>C (n.*2512-1G>C)
c.4131-1G>C (n.4131-1G>C)
c.*3961-1G>C (n.*3961-1G>C)
c.3711-1G>C (n.3711-1G>C)
n.2305-1G>C
c.1001-1G>C (n.1001-1G>C)
c.1924-1G>C (n.1924-1G>C)
c.719-1G>C
c.1587-1G>C
c.4047-1G>C (n.4047-1G>C)
c.263-1G>C
c.4227-1G>C (n.4227-1G>C)
c.3894-1G>C (n.3894-1G>C)
7g.117665458G>TCA368983298CFTRc.*346-1G>T (n.*346-1G>T)
c.*3851-1G>T (n.*3851-1G>T)
c.3954-1G>T (n.3954-1G>T)
c.*350-1G>T (n.*350-1G>T)
c.*790-1G>T (n.*790-1G>T)
c.4137-1G>T (n.4137-1G>T)
c.*798-1G>T (n.*798-1G>T)
c.*2512-1G>T (n.*2512-1G>T)
c.4131-1G>T (n.4131-1G>T)
c.*3961-1G>T (n.*3961-1G>T)
c.3711-1G>T (n.3711-1G>T)
n.2305-1G>T
c.1001-1G>T (n.1001-1G>T)
c.1924-1G>T (n.1924-1G>T)
c.719-1G>T
c.1587-1G>T
c.4047-1G>T (n.4047-1G>T)
c.263-1G>T
c.4227-1G>T (n.4227-1G>T)
c.3894-1G>T (n.3894-1G>T)
7g.117665459A>CCA457230767CFTRc.*346A>C (n.*346A>C)
c.*3851A>C (n.*3851A>C)
c.3954A>C (p.Val1318=)
c.*350A>C (n.*350A>C)
c.*790A>C (n.*790A>C)
c.4137A>C (p.Val1379=)
c.*798A>C (n.*798A>C)
c.*2512A>C (n.*2512A>C)
c.4131A>C (p.Val1377=)
c.*3961A>C (n.*3961A>C)
c.3711A>C (p.Val1237=)
n.2305A>C
c.1001A>C (n.1001A>C)
c.1924A>C (n.1924A>C)
c.719A>C
c.1587A>C
c.4047A>C (p.Val1349=)
c.263A>C
c.4227A>C (p.Val1409=)
c.3894A>C (p.Val1298=)
7g.117665459A>GCA457230764CFTRc.*346A>G (n.*346A>G)
c.*3851A>G (n.*3851A>G)
c.3954A>G (p.Val1318=)
c.*350A>G (n.*350A>G)
c.*790A>G (n.*790A>G)
c.4137A>G (p.Val1379=)
c.*798A>G (n.*798A>G)
c.*2512A>G (n.*2512A>G)
c.4131A>G (p.Val1377=)
c.*3961A>G (n.*3961A>G)
c.3711A>G (p.Val1237=)
n.2305A>G
c.1001A>G (n.1001A>G)
c.1924A>G (n.1924A>G)
c.719A>G
c.1587A>G
c.4047A>G (p.Val1349=)
c.263A>G
c.4227A>G (p.Val1409=)
c.3894A>G (p.Val1298=)
7g.117665459A>TCA457230765CFTRc.*346A>T (n.*346A>T)
c.*3851A>T (n.*3851A>T)
c.3954A>T (p.Val1318=)
c.*350A>T (n.*350A>T)
c.*790A>T (n.*790A>T)
c.4137A>T (p.Val1379=)
c.*798A>T (n.*798A>T)
c.*2512A>T (n.*2512A>T)
c.4131A>T (p.Val1377=)
c.*3961A>T (n.*3961A>T)
c.3711A>T (p.Val1237=)
n.2305A>T
c.1001A>T (n.1001A>T)
c.1924A>T (n.1924A>T)
c.719A>T
c.1587A>T
c.4047A>T (p.Val1349=)
c.263A>T
c.4227A>T (p.Val1409=)
c.3894A>T (p.Val1298=)
7g.117665460A>CCA368983303CFTRc.*347A>C (n.*347A>C)
c.*3852A>C (n.*3852A>C)
c.3955A>C (p.Thr1319Pro)
c.*351A>C (n.*351A>C)
c.*791A>C (n.*791A>C)
c.4138A>C (p.Thr1380Pro)
c.*799A>C (n.*799A>C)
c.*2513A>C (n.*2513A>C)
c.4132A>C (p.Thr1378Pro)
c.*3962A>C (n.*3962A>C)
c.3712A>C (p.Thr1238Pro)
n.2306A>C
c.1002A>C (n.1002A>C)
c.1925A>C (n.1925A>C)
c.720A>C
c.1588A>C
c.4048A>C (p.Thr1350Pro)
c.264A>C
c.4228A>C (p.Thr1410Pro)
c.3895A>C (p.Thr1299Pro)
7g.117665460A>GCA368983305CFTRc.*347A>G (n.*347A>G)
c.*3852A>G (n.*3852A>G)
c.3955A>G (p.Thr1319Ala)
c.*351A>G (n.*351A>G)
c.*791A>G (n.*791A>G)
c.4138A>G (p.Thr1380Ala)
c.*799A>G (n.*799A>G)
c.*2513A>G (n.*2513A>G)
c.4132A>G (p.Thr1378Ala)
c.*3962A>G (n.*3962A>G)
c.3712A>G (p.Thr1238Ala)
n.2306A>G
c.1002A>G (n.1002A>G)
c.1925A>G (n.1925A>G)
c.720A>G
c.1588A>G
c.4048A>G (p.Thr1350Ala)
c.264A>G
c.4228A>G (p.Thr1410Ala)
c.3895A>G (p.Thr1299Ala)
 dbSNP
7g.117665460A>TCA368983307CFTRc.*347A>T (n.*347A>T)
c.*3852A>T (n.*3852A>T)
c.3955A>T (p.Thr1319Ser)
c.*351A>T (n.*351A>T)
c.*791A>T (n.*791A>T)
c.4138A>T (p.Thr1380Ser)
c.*799A>T (n.*799A>T)
c.*2513A>T (n.*2513A>T)
c.4132A>T (p.Thr1378Ser)
c.*3962A>T (n.*3962A>T)
c.3712A>T (p.Thr1238Ser)
n.2306A>T
c.1002A>T (n.1002A>T)
c.1925A>T (n.1925A>T)
c.720A>T
c.1588A>T
c.4048A>T (p.Thr1350Ser)
c.264A>T
c.4228A>T (p.Thr1410Ser)
c.3895A>T (p.Thr1299Ser)
7g.117665460_117665461delinsACCA1737422708CFTRc.*347_*348delinsAC (n.*347_*348delinsAC)
c.*3852_*3853delinsAC (n.*3852_*3853delinsAC)
c.3955_3956delinsAC (p.Thr1319=)
c.*351_*352delinsAC (n.*351_*352delinsAC)
c.*791_*792delinsAC (n.*791_*792delinsAC)
c.4138_4139delinsAC (p.Thr1380=)
c.*799_*800delinsAC (n.*799_*800delinsAC)
c.*2513_*2514delinsAC (n.*2513_*2514delinsAC)
c.4132_4133delinsAC (p.Thr1378=)
c.*3962_*3963delinsAC (n.*3962_*3963delinsAC)
c.3712_3713delinsAC (p.Thr1238=)
n.2306_2307delinsAC
c.1002_1003delinsAC (n.1002_1003delinsAC)
c.1925_1926delinsAC (n.1925_1926delinsAC)
c.720_721delinsAC
c.1588_1589delinsAC
c.4048_4049delinsAC (p.Thr1350=)
c.264_265delinsAC
c.4228_4229delinsAC (p.Thr1410=)
c.3895_3896delinsAC (p.Thr1299=)
7g.117665461delCA327418CFTRc.*348del (n.*348del)
c.*3853del (n.*3853del)
c.3956del (p.Thr1319AsnfsTer4)
c.*352del (n.*352del)
c.*792del (n.*792del)
c.4139del (p.Thr1380AsnfsTer4)
c.*800del (n.*800del)
c.*2514del (n.*2514del)
c.4133del (p.Thr1378AsnfsTer4)
c.*3963del (n.*3963del)
c.3713del (p.Thr1238AsnfsTer4)
n.2307del
c.1003del (n.1003del)
c.1926del (n.1926del)
c.721del
c.1589del
c.4049del (p.Thr1350AsnfsTer4)
c.265del
c.4229del (p.Thr1410AsnfsTer4)
c.3896del (p.Thr1299AsnfsTer4)
 ClinVar dbSNP gnomAD v4
7g.117665461C>ACA368983310CFTRc.*348C>A (n.*348C>A)
c.*3853C>A (n.*3853C>A)
c.3956C>A (p.Thr1319Lys)
c.*352C>A (n.*352C>A)
c.*792C>A (n.*792C>A)
c.4139C>A (p.Thr1380Lys)
c.*800C>A (n.*800C>A)
c.*2514C>A (n.*2514C>A)
c.4133C>A (p.Thr1378Lys)
c.*3963C>A (n.*3963C>A)
c.3713C>A (p.Thr1238Lys)
n.2307C>A
c.1003C>A (n.1003C>A)
c.1926C>A (n.1926C>A)
c.721C>A
c.1589C>A
c.4049C>A (p.Thr1350Lys)
c.265C>A
c.4229C>A (p.Thr1410Lys)
c.3896C>A (p.Thr1299Lys)
 gnomAD v4
7g.117665461C=CA1737422710CFTRc.*348C= (n.*348C=)
c.*3853C= (n.*3853C=)
c.3956C= (p.Thr1319=)
c.*352C= (n.*352C=)
c.*792C= (n.*792C=)
c.4139C= (p.Thr1380=)
c.*800C= (n.*800C=)
c.*2514C= (n.*2514C=)
c.4133C= (p.Thr1378=)
c.*3963C= (n.*3963C=)
c.3713C= (p.Thr1238=)
n.2307C=
c.1003C= (n.1003C=)
c.1926C= (n.1926C=)
c.721C=
c.1589C=
c.4049C= (p.Thr1350=)
c.265C=
c.4229C= (p.Thr1410=)
c.3896C= (p.Thr1299=)
7g.117665461C>GCA368983312CFTRc.*348C>G (n.*348C>G)
c.*3853C>G (n.*3853C>G)
c.3956C>G (p.Thr1319Arg)
c.*352C>G (n.*352C>G)
c.*792C>G (n.*792C>G)
c.4139C>G (p.Thr1380Arg)
c.*800C>G (n.*800C>G)
c.*2514C>G (n.*2514C>G)
c.4133C>G (p.Thr1378Arg)
c.*3963C>G (n.*3963C>G)
c.3713C>G (p.Thr1238Arg)
n.2307C>G
c.1003C>G (n.1003C>G)
c.1926C>G (n.1926C>G)
c.721C>G
c.1589C>G
c.4049C>G (p.Thr1350Arg)
c.265C>G
c.4229C>G (p.Thr1410Arg)
c.3896C>G (p.Thr1299Arg)
7g.117665461C>TCA368983314CFTRc.*348C>T (n.*348C>T)
c.*3853C>T (n.*3853C>T)
c.3956C>T (p.Thr1319Ile)
c.*352C>T (n.*352C>T)
c.*792C>T (n.*792C>T)
c.4139C>T (p.Thr1380Ile)
c.*800C>T (n.*800C>T)
c.*2514C>T (n.*2514C>T)
c.4133C>T (p.Thr1378Ile)
c.*3963C>T (n.*3963C>T)
c.3713C>T (p.Thr1238Ile)
n.2307C>T
c.1003C>T (n.1003C>T)
c.1926C>T (n.1926C>T)
c.721C>T
c.1589C>T
c.4049C>T (p.Thr1350Ile)
c.265C>T
c.4229C>T (p.Thr1410Ile)
c.3896C>T (p.Thr1299Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117665461_117665462delinsCACA1737422709CFTRc.*348_*349delinsCA (n.*348_*349delinsCA)
c.*3853_*3854delinsCA (n.*3853_*3854delinsCA)
c.3956_3957delinsCA (p.Thr1319=)
c.*352_*353delinsCA (n.*352_*353delinsCA)
c.*792_*793delinsCA (n.*792_*793delinsCA)
c.4139_4140delinsCA (p.Thr1380=)
c.*800_*801delinsCA (n.*800_*801delinsCA)
c.*2514_*2515delinsCA (n.*2514_*2515delinsCA)
c.4133_4134delinsCA (p.Thr1378=)
c.*3963_*3964delinsCA (n.*3963_*3964delinsCA)
c.3713_3714delinsCA (p.Thr1238=)
n.2307_2308delinsCA
c.1003_1004delinsCA (n.1003_1004delinsCA)
c.1926_1927delinsCA (n.1926_1927delinsCA)
c.721_722delinsCA
c.1589_1590delinsCA
c.4049_4050delinsCA (p.Thr1350=)
c.265_266delinsCA
c.4229_4230delinsCA (p.Thr1410=)
c.3896_3897delinsCA (p.Thr1299=)
7g.117665462delCA327419CFTRc.*349del (n.*349del)
c.*3854del (n.*3854del)
c.3957del (p.Tyr1320ThrfsTer3)
c.*353del (n.*353del)
c.*793del (n.*793del)
c.4140del (p.Tyr1381ThrfsTer3)
c.*801del (n.*801del)
c.*2515del (n.*2515del)
c.4134del (p.Tyr1379ThrfsTer3)
c.*3964del (n.*3964del)
c.3714del (p.Tyr1239ThrfsTer3)
n.2308del
c.1004del (n.1004del)
c.1927del (n.1927del)
c.722del
c.1590del
c.4050del (p.Tyr1351ThrfsTer3)
c.266del
c.4230del (p.Tyr1411ThrfsTer3)
c.3897del (p.Tyr1300ThrfsTer3)
 dbSNP
7g.117665462A>CCA457230772CFTRc.*349A>C (n.*349A>C)
c.*3854A>C (n.*3854A>C)
c.3957A>C (p.Thr1319=)
c.*353A>C (n.*353A>C)
c.*793A>C (n.*793A>C)
c.4140A>C (p.Thr1380=)
c.*801A>C (n.*801A>C)
c.*2515A>C (n.*2515A>C)
c.4134A>C (p.Thr1378=)
c.*3964A>C (n.*3964A>C)
c.3714A>C (p.Thr1238=)
n.2308A>C
c.1004A>C (n.1004A>C)
c.1927A>C (n.1927A>C)
c.722A>C
c.1590A>C
c.4050A>C (p.Thr1350=)
c.266A>C
c.4230A>C (p.Thr1410=)
c.3897A>C (p.Thr1299=)
7g.117665462A>GCA457230774CFTRc.*349A>G (n.*349A>G)
c.*3854A>G (n.*3854A>G)
c.3957A>G (p.Thr1319=)
c.*353A>G (n.*353A>G)
c.*793A>G (n.*793A>G)
c.4140A>G (p.Thr1380=)
c.*801A>G (n.*801A>G)
c.*2515A>G (n.*2515A>G)
c.4134A>G (p.Thr1378=)
c.*3964A>G (n.*3964A>G)
c.3714A>G (p.Thr1238=)
n.2308A>G
c.1004A>G (n.1004A>G)
c.1927A>G (n.1927A>G)
c.722A>G
c.1590A>G
c.4050A>G (p.Thr1350=)
c.266A>G
c.4230A>G (p.Thr1410=)
c.3897A>G (p.Thr1299=)
7g.117665462A>TCA457230776CFTRc.*349A>T (n.*349A>T)
c.*3854A>T (n.*3854A>T)
c.3957A>T (p.Thr1319=)
c.*353A>T (n.*353A>T)
c.*793A>T (n.*793A>T)
c.4140A>T (p.Thr1380=)
c.*801A>T (n.*801A>T)
c.*2515A>T (n.*2515A>T)
c.4134A>T (p.Thr1378=)
c.*3964A>T (n.*3964A>T)
c.3714A>T (p.Thr1238=)
n.2308A>T
c.1004A>T (n.1004A>T)
c.1927A>T (n.1927A>T)
c.722A>T
c.1590A>T
c.4050A>T (p.Thr1350=)
c.266A>T
c.4230A>T (p.Thr1410=)
c.3897A>T (p.Thr1299=)
 ClinVar dbSNP gnomAD v4
7g.117665463T>ACA368983319CFTRc.*350T>A (n.*350T>A)
c.*3855T>A (n.*3855T>A)
c.3958T>A (p.Tyr1320Asn)
c.*354T>A (n.*354T>A)
c.*794T>A (n.*794T>A)
c.4141T>A (p.Tyr1381Asn)
c.*802T>A (n.*802T>A)
c.*2516T>A (n.*2516T>A)
c.4135T>A (p.Tyr1379Asn)
c.*3965T>A (n.*3965T>A)
c.3715T>A (p.Tyr1239Asn)
n.2309T>A
c.1005T>A (n.1005T>A)
c.1928T>A (n.1928T>A)
c.723T>A
c.1591T>A
c.4051T>A (p.Tyr1351Asn)
c.267T>A
c.4231T>A (p.Tyr1411Asn)
c.3898T>A (p.Tyr1300Asn)
7g.117665463T>CCA327420CFTRc.*350T>C (n.*350T>C)
c.*3855T>C (n.*3855T>C)
c.3958T>C (p.Tyr1320His)
c.*354T>C (n.*354T>C)
c.*794T>C (n.*794T>C)
c.4141T>C (p.Tyr1381His)
c.*802T>C (n.*802T>C)
c.*2516T>C (n.*2516T>C)
c.4135T>C (p.Tyr1379His)
c.*3965T>C (n.*3965T>C)
c.3715T>C (p.Tyr1239His)
n.2309T>C
c.1005T>C (n.1005T>C)
c.1928T>C (n.1928T>C)
c.723T>C
c.1591T>C
c.4051T>C (p.Tyr1351His)
c.267T>C
c.4231T>C (p.Tyr1411His)
c.3898T>C (p.Tyr1300His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117665463T>GCA368983323CFTRc.*350T>G (n.*350T>G)
c.*3855T>G (n.*3855T>G)
c.3958T>G (p.Tyr1320Asp)
c.*354T>G (n.*354T>G)
c.*794T>G (n.*794T>G)
c.4141T>G (p.Tyr1381Asp)
c.*802T>G (n.*802T>G)
c.*2516T>G (n.*2516T>G)
c.4135T>G (p.Tyr1379Asp)
c.*3965T>G (n.*3965T>G)
c.3715T>G (p.Tyr1239Asp)
n.2309T>G
c.1005T>G (n.1005T>G)
c.1928T>G (n.1928T>G)
c.723T>G
c.1591T>G
c.4051T>G (p.Tyr1351Asp)
c.267T>G
c.4231T>G (p.Tyr1411Asp)
c.3898T>G (p.Tyr1300Asp)
7g.117665463T=CA1737422715CFTRc.*350T= (n.*350T=)
c.*3855T= (n.*3855T=)
c.3958T= (p.Tyr1320=)
c.*354T= (n.*354T=)
c.*794T= (n.*794T=)
c.4141T= (p.Tyr1381=)
c.*802T= (n.*802T=)
c.*2516T= (n.*2516T=)
c.4135T= (p.Tyr1379=)
c.*3965T= (n.*3965T=)
c.3715T= (p.Tyr1239=)
n.2309T=
c.1005T= (n.1005T=)
c.1928T= (n.1928T=)
c.723T=
c.1591T=
c.4051T= (p.Tyr1351=)
c.267T=
c.4231T= (p.Tyr1411=)
c.3898T= (p.Tyr1300=)
7g.117665464A=CA1737422724CFTRc.*351A= (n.*351A=)
c.*3856A= (n.*3856A=)
c.3959A= (p.Tyr1320=)
c.*355A= (n.*355A=)
c.*795A= (n.*795A=)
c.4142A= (p.Tyr1381=)
c.*803A= (n.*803A=)
c.*2517A= (n.*2517A=)
c.4136A= (p.Tyr1379=)
c.*3966A= (n.*3966A=)
c.3716A= (p.Tyr1239=)
n.2310A=
c.1006A= (n.1006A=)
c.1929A= (n.1929A=)
c.724A=
c.1592A=
c.4052A= (p.Tyr1351=)
c.268A=
c.4232A= (p.Tyr1411=)
c.3899A= (p.Tyr1300=)
7g.117665464A>CCA4451652CFTRc.*351A>C (n.*351A>C)
c.*3856A>C (n.*3856A>C)
c.3959A>C (p.Tyr1320Ser)
c.*355A>C (n.*355A>C)
c.*795A>C (n.*795A>C)
c.4142A>C (p.Tyr1381Ser)
c.*803A>C (n.*803A>C)
c.*2517A>C (n.*2517A>C)
c.4136A>C (p.Tyr1379Ser)
c.*3966A>C (n.*3966A>C)
c.3716A>C (p.Tyr1239Ser)
n.2310A>C
c.1006A>C (n.1006A>C)
c.1929A>C (n.1929A>C)
c.724A>C
c.1592A>C
c.4052A>C (p.Tyr1351Ser)
c.268A>C
c.4232A>C (p.Tyr1411Ser)
c.3899A>C (p.Tyr1300Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117665464A>GCA16612027CFTRc.*351A>G (n.*351A>G)
c.*3856A>G (n.*3856A>G)
c.3959A>G (p.Tyr1320Cys)
c.*355A>G (n.*355A>G)
c.*795A>G (n.*795A>G)
c.4142A>G (p.Tyr1381Cys)
c.*803A>G (n.*803A>G)
c.*2517A>G (n.*2517A>G)
c.4136A>G (p.Tyr1379Cys)
c.*3966A>G (n.*3966A>G)
c.3716A>G (p.Tyr1239Cys)
n.2310A>G
c.1006A>G (n.1006A>G)
c.1929A>G (n.1929A>G)
c.724A>G
c.1592A>G
c.4052A>G (p.Tyr1351Cys)
c.268A>G
c.4232A>G (p.Tyr1411Cys)
c.3899A>G (p.Tyr1300Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117665464A>TCA368983326CFTRc.*351A>T (n.*351A>T)
c.*3856A>T (n.*3856A>T)
c.3959A>T (p.Tyr1320Phe)
c.*355A>T (n.*355A>T)
c.*795A>T (n.*795A>T)
c.4142A>T (p.Tyr1381Phe)
c.*803A>T (n.*803A>T)
c.*2517A>T (n.*2517A>T)
c.4136A>T (p.Tyr1379Phe)
c.*3966A>T (n.*3966A>T)
c.3716A>T (p.Tyr1239Phe)
n.2310A>T
c.1006A>T (n.1006A>T)
c.1929A>T (n.1929A>T)
c.724A>T
c.1592A>T
c.4052A>T (p.Tyr1351Phe)
c.268A>T
c.4232A>T (p.Tyr1411Phe)
c.3899A>T (p.Tyr1300Phe)
 ClinVar
7g.117665465C>ACA327422CFTRc.*352C>A (n.*352C>A)
c.*3857C>A (n.*3857C>A)
c.3960C>A (p.Tyr1320Ter)
c.*356C>A (n.*356C>A)
c.*796C>A (n.*796C>A)
c.4143C>A (p.Tyr1381Ter)
c.*804C>A (n.*804C>A)
c.*2518C>A (n.*2518C>A)
c.4137C>A (p.Tyr1379Ter)
c.*3967C>A (n.*3967C>A)
c.3717C>A (p.Tyr1239Ter)
n.2311C>A
c.1007C>A (n.1007C>A)
c.1930C>A (n.1930C>A)
c.725C>A
c.1593C>A
c.4053C>A (p.Tyr1351Ter)
c.269C>A
c.4233C>A (p.Tyr1411Ter)
c.3900C>A (p.Tyr1300Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117665465C=CA1737422730CFTRc.*352C= (n.*352C=)
c.*3857C= (n.*3857C=)
c.3960C= (p.Tyr1320=)
c.*356C= (n.*356C=)
c.*796C= (n.*796C=)
c.4143C= (p.Tyr1381=)
c.*804C= (n.*804C=)
c.*2518C= (n.*2518C=)
c.4137C= (p.Tyr1379=)
c.*3967C= (n.*3967C=)
c.3717C= (p.Tyr1239=)
n.2311C=
c.1007C= (n.1007C=)
c.1930C= (n.1930C=)
c.725C=
c.1593C=
c.4053C= (p.Tyr1351=)
c.269C=
c.4233C= (p.Tyr1411=)
c.3900C= (p.Tyr1300=)
7g.117665465C>GCA16041141CFTRc.*352C>G (n.*352C>G)
c.*3857C>G (n.*3857C>G)
c.3960C>G (p.Tyr1320Ter)
c.*356C>G (n.*356C>G)
c.*796C>G (n.*796C>G)
c.4143C>G (p.Tyr1381Ter)
c.*804C>G (n.*804C>G)
c.*2518C>G (n.*2518C>G)
c.4137C>G (p.Tyr1379Ter)
c.*3967C>G (n.*3967C>G)
c.3717C>G (p.Tyr1239Ter)
n.2311C>G
c.1007C>G (n.1007C>G)
c.1930C>G (n.1930C>G)
c.725C>G
c.1593C>G
c.4053C>G (p.Tyr1351Ter)
c.269C>G
c.4233C>G (p.Tyr1411Ter)
c.3900C>G (p.Tyr1300Ter)
 ClinVar dbSNP
7g.117665465C>TCA457230782CFTRc.*352C>T (n.*352C>T)
c.*3857C>T (n.*3857C>T)
c.3960C>T (p.Tyr1320=)
c.*356C>T (n.*356C>T)
c.*796C>T (n.*796C>T)
c.4143C>T (p.Tyr1381=)
c.*804C>T (n.*804C>T)
c.*2518C>T (n.*2518C>T)
c.4137C>T (p.Tyr1379=)
c.*3967C>T (n.*3967C>T)
c.3717C>T (p.Tyr1239=)
n.2311C>T
c.1007C>T (n.1007C>T)
c.1930C>T (n.1930C>T)
c.725C>T
c.1593C>T
c.4053C>T (p.Tyr1351=)
c.269C>T
c.4233C>T (p.Tyr1411=)
c.3900C>T (p.Tyr1300=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117665466C>ACA4451653CFTRc.*353C>A (n.*353C>A)
c.*3858C>A (n.*3858C>A)
c.3961C>A (p.Gln1321Lys)
c.*357C>A (n.*357C>A)
c.*797C>A (n.*797C>A)
c.4144C>A (p.Gln1382Lys)
c.*805C>A (n.*805C>A)
c.*2519C>A (n.*2519C>A)
c.4138C>A (p.Gln1380Lys)
c.*3968C>A (n.*3968C>A)
c.3718C>A (p.Gln1240Lys)
n.2312C>A
c.1008C>A (n.1008C>A)
c.1931C>A (n.1931C>A)
c.726C>A
c.1594C>A
c.4054C>A (p.Gln1352Lys)
c.270C>A
c.4234C>A (p.Gln1412Lys)
c.3901C>A (p.Gln1301Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117665466C=CA1737422781CFTRc.*353C= (n.*353C=)
c.*3858C= (n.*3858C=)
c.3961C= (p.Gln1321=)
c.*357C= (n.*357C=)
c.*797C= (n.*797C=)
c.4144C= (p.Gln1382=)
c.*805C= (n.*805C=)
c.*2519C= (n.*2519C=)
c.4138C= (p.Gln1380=)
c.*3968C= (n.*3968C=)
c.3718C= (p.Gln1240=)
n.2312C=
c.1008C= (n.1008C=)
c.1931C= (n.1931C=)
c.726C=
c.1594C=
c.4054C= (p.Gln1352=)
c.270C=
c.4234C= (p.Gln1412=)
c.3901C= (p.Gln1301=)

Number of alleles fetched