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.117664811A=CA1737422115CFTRc.*296A= (n.*296A=)
c.*3801A= (n.*3801A=)
c.3904A= (p.Lys1302=)
c.*300A= (n.*300A=)
c.*740A= (n.*740A=)
c.4087A= (p.Lys1363=)
c.*748A= (n.*748A=)
c.*2462A= (n.*2462A=)
c.4081A= (p.Lys1361=)
c.*3911A= (n.*3911A=)
c.3661A= (p.Lys1221=)
n.2255A=
c.951A= (n.951A=)
c.1874A= (n.1874A=)
c.669A=
c.1537A=
c.3997A= (p.Lys1333=)
c.213A=
c.4177A= (p.Lys1393=)
c.3844A= (p.Lys1282=)
7g.117664811A>CCA16612022CFTRc.*296A>C (n.*296A>C)
c.*3801A>C (n.*3801A>C)
c.3904A>C (p.Lys1302Gln)
c.*300A>C (n.*300A>C)
c.*740A>C (n.*740A>C)
c.4087A>C (p.Lys1363Gln)
c.*748A>C (n.*748A>C)
c.*2462A>C (n.*2462A>C)
c.4081A>C (p.Lys1361Gln)
c.*3911A>C (n.*3911A>C)
c.3661A>C (p.Lys1221Gln)
n.2255A>C
c.951A>C (n.951A>C)
c.1874A>C (n.1874A>C)
c.669A>C
c.1537A>C
c.3997A>C (p.Lys1333Gln)
c.213A>C
c.4177A>C (p.Lys1393Gln)
c.3844A>C (p.Lys1282Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117664811A>GCA368982743CFTRc.*296A>G (n.*296A>G)
c.*3801A>G (n.*3801A>G)
c.3904A>G (p.Lys1302Glu)
c.*300A>G (n.*300A>G)
c.*740A>G (n.*740A>G)
c.4087A>G (p.Lys1363Glu)
c.*748A>G (n.*748A>G)
c.*2462A>G (n.*2462A>G)
c.4081A>G (p.Lys1361Glu)
c.*3911A>G (n.*3911A>G)
c.3661A>G (p.Lys1221Glu)
n.2255A>G
c.951A>G (n.951A>G)
c.1874A>G (n.1874A>G)
c.669A>G
c.1537A>G
c.3997A>G (p.Lys1333Glu)
c.213A>G
c.4177A>G (p.Lys1393Glu)
c.3844A>G (p.Lys1282Glu)
7g.117664811A>TCA368982744CFTRc.*296A>T (n.*296A>T)
c.*3801A>T (n.*3801A>T)
c.3904A>T (p.Lys1302Ter)
c.*300A>T (n.*300A>T)
c.*740A>T (n.*740A>T)
c.4087A>T (p.Lys1363Ter)
c.*748A>T (n.*748A>T)
c.*2462A>T (n.*2462A>T)
c.4081A>T (p.Lys1361Ter)
c.*3911A>T (n.*3911A>T)
c.3661A>T (p.Lys1221Ter)
n.2255A>T
c.951A>T (n.951A>T)
c.1874A>T (n.1874A>T)
c.669A>T
c.1537A>T
c.3997A>T (p.Lys1333Ter)
c.213A>T
c.4177A>T (p.Lys1393Ter)
c.3844A>T (p.Lys1282Ter)
7g.117664812A=CA1737422120CFTRc.*297A= (n.*297A=)
c.*3802A= (n.*3802A=)
c.3905A= (p.Lys1302=)
c.*301A= (n.*301A=)
c.*741A= (n.*741A=)
c.4088A= (p.Lys1363=)
c.*749A= (n.*749A=)
c.*2463A= (n.*2463A=)
c.4082A= (p.Lys1361=)
c.*3912A= (n.*3912A=)
c.3662A= (p.Lys1221=)
n.2256A=
c.952A= (n.952A=)
c.1875A= (n.1875A=)
c.670A=
c.1538A=
c.3998A= (p.Lys1333=)
c.214A=
c.4178A= (p.Lys1393=)
c.3845A= (p.Lys1282=)
7g.117664812A>CCA368982746CFTRc.*297A>C (n.*297A>C)
c.*3802A>C (n.*3802A>C)
c.3905A>C (p.Lys1302Thr)
c.*301A>C (n.*301A>C)
c.*741A>C (n.*741A>C)
c.4088A>C (p.Lys1363Thr)
c.*749A>C (n.*749A>C)
c.*2463A>C (n.*2463A>C)
c.4082A>C (p.Lys1361Thr)
c.*3912A>C (n.*3912A>C)
c.3662A>C (p.Lys1221Thr)
n.2256A>C
c.952A>C (n.952A>C)
c.1875A>C (n.1875A>C)
c.670A>C
c.1538A>C
c.3998A>C (p.Lys1333Thr)
c.214A>C
c.4178A>C (p.Lys1393Thr)
c.3845A>C (p.Lys1282Thr)
7g.117664812A>GCA368982749CFTRc.*297A>G (n.*297A>G)
c.*3802A>G (n.*3802A>G)
c.3905A>G (p.Lys1302Arg)
c.*301A>G (n.*301A>G)
c.*741A>G (n.*741A>G)
c.4088A>G (p.Lys1363Arg)
c.*749A>G (n.*749A>G)
c.*2463A>G (n.*2463A>G)
c.4082A>G (p.Lys1361Arg)
c.*3912A>G (n.*3912A>G)
c.3662A>G (p.Lys1221Arg)
n.2256A>G
c.952A>G (n.952A>G)
c.1875A>G (n.1875A>G)
c.670A>G
c.1538A>G
c.3998A>G (p.Lys1333Arg)
c.214A>G
c.4178A>G (p.Lys1393Arg)
c.3845A>G (p.Lys1282Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117664812A>TCA368982752CFTRc.*297A>T (n.*297A>T)
c.*3802A>T (n.*3802A>T)
c.3905A>T (p.Lys1302Met)
c.*301A>T (n.*301A>T)
c.*741A>T (n.*741A>T)
c.4088A>T (p.Lys1363Met)
c.*749A>T (n.*749A>T)
c.*2463A>T (n.*2463A>T)
c.4082A>T (p.Lys1361Met)
c.*3912A>T (n.*3912A>T)
c.3662A>T (p.Lys1221Met)
n.2256A>T
c.952A>T (n.952A>T)
c.1875A>T (n.1875A>T)
c.670A>T
c.1538A>T
c.3998A>T (p.Lys1333Met)
c.214A>T
c.4178A>T (p.Lys1393Met)
c.3845A>T (p.Lys1282Met)
7g.117664813G>ACA457230466CFTRc.*298G>A (n.*298G>A)
c.*3803G>A (n.*3803G>A)
c.3906G>A (p.Lys1302=)
c.*302G>A (n.*302G>A)
c.*742G>A (n.*742G>A)
c.4089G>A (p.Lys1363=)
c.*750G>A (n.*750G>A)
c.*2464G>A (n.*2464G>A)
c.4083G>A (p.Lys1361=)
c.*3913G>A (n.*3913G>A)
c.3663G>A (p.Lys1221=)
n.2257G>A
c.953G>A (n.953G>A)
c.1876G>A (n.1876G>A)
c.671G>A
c.1539G>A
c.3999G>A (p.Lys1333=)
c.215G>A
c.4179G>A (p.Lys1393=)
c.3846G>A (p.Lys1282=)
dbSNP
7g.117664813G>CCA368982760CFTRc.*298G>C (n.*298G>C)
c.*3803G>C (n.*3803G>C)
c.3906G>C (p.Lys1302Asn)
c.*302G>C (n.*302G>C)
c.*742G>C (n.*742G>C)
c.4089G>C (p.Lys1363Asn)
c.*750G>C (n.*750G>C)
c.*2464G>C (n.*2464G>C)
c.4083G>C (p.Lys1361Asn)
c.*3913G>C (n.*3913G>C)
c.3663G>C (p.Lys1221Asn)
n.2257G>C
c.953G>C (n.953G>C)
c.1876G>C (n.1876G>C)
c.671G>C
c.1539G>C
c.3999G>C (p.Lys1333Asn)
c.215G>C
c.4179G>C (p.Lys1393Asn)
c.3846G>C (p.Lys1282Asn)
7g.117664813G=CA1737422122CFTRc.*298G= (n.*298G=)
c.*3803G= (n.*3803G=)
c.3906G= (p.Lys1302=)
c.*302G= (n.*302G=)
c.*742G= (n.*742G=)
c.4089G= (p.Lys1363=)
c.*750G= (n.*750G=)
c.*2464G= (n.*2464G=)
c.4083G= (p.Lys1361=)
c.*3913G= (n.*3913G=)
c.3663G= (p.Lys1221=)
n.2257G=
c.953G= (n.953G=)
c.1876G= (n.1876G=)
c.671G=
c.1539G=
c.3999G= (p.Lys1333=)
c.215G=
c.4179G= (p.Lys1393=)
c.3846G= (p.Lys1282=)
7g.117664813G>TCA368982761CFTRc.*298G>T (n.*298G>T)
c.*3803G>T (n.*3803G>T)
c.3906G>T (p.Lys1302Asn)
c.*302G>T (n.*302G>T)
c.*742G>T (n.*742G>T)
c.4089G>T (p.Lys1363Asn)
c.*750G>T (n.*750G>T)
c.*2464G>T (n.*2464G>T)
c.4083G>T (p.Lys1361Asn)
c.*3913G>T (n.*3913G>T)
c.3663G>T (p.Lys1221Asn)
n.2257G>T
c.953G>T (n.953G>T)
c.1876G>T (n.1876G>T)
c.671G>T
c.1539G>T
c.3999G>T (p.Lys1333Asn)
c.215G>T
c.4179G>T (p.Lys1393Asn)
c.3846G>T (p.Lys1282Asn)
7g.117664814delCA2579000416CFTRc.*299del (n.*299del)
c.*3804del (n.*3804del)
c.3907del (p.Ala1303ArgfsTer16)
c.*303del (n.*303del)
c.*743del (n.*743del)
c.4090del (p.Ala1364ArgfsTer16)
c.*751del (n.*751del)
c.*2465del (n.*2465del)
c.4084del (p.Ala1362ArgfsTer16)
c.*3914del (n.*3914del)
c.3664del (p.Ala1222ArgfsTer16)
n.2258del
c.954del (n.954del)
c.1877del (n.1877del)
c.672del
c.1540del
c.4000del (p.Ala1334ArgfsTer16)
c.216del
c.4180del (p.Ala1394ArgfsTer16)
c.3847del (p.Ala1283ArgfsTer16)
7g.117664814G>ACA368982763CFTRc.*299G>A (n.*299G>A)
c.*3804G>A (n.*3804G>A)
c.3907G>A (p.Ala1303Thr)
c.*303G>A (n.*303G>A)
c.*743G>A (n.*743G>A)
c.4090G>A (p.Ala1364Thr)
c.*751G>A (n.*751G>A)
c.*2465G>A (n.*2465G>A)
c.4084G>A (p.Ala1362Thr)
c.*3914G>A (n.*3914G>A)
c.3664G>A (p.Ala1222Thr)
n.2258G>A
c.954G>A (n.954G>A)
c.1877G>A (n.1877G>A)
c.672G>A
c.1540G>A
c.4000G>A (p.Ala1334Thr)
c.216G>A
c.4180G>A (p.Ala1394Thr)
c.3847G>A (p.Ala1283Thr)
7g.117664814G>CCA368982767CFTRc.*299G>C (n.*299G>C)
c.*3804G>C (n.*3804G>C)
c.3907G>C (p.Ala1303Pro)
c.*303G>C (n.*303G>C)
c.*743G>C (n.*743G>C)
c.4090G>C (p.Ala1364Pro)
c.*751G>C (n.*751G>C)
c.*2465G>C (n.*2465G>C)
c.4084G>C (p.Ala1362Pro)
c.*3914G>C (n.*3914G>C)
c.3664G>C (p.Ala1222Pro)
n.2258G>C
c.954G>C (n.954G>C)
c.1877G>C (n.1877G>C)
c.672G>C
c.1540G>C
c.4000G>C (p.Ala1334Pro)
c.216G>C
c.4180G>C (p.Ala1394Pro)
c.3847G>C (p.Ala1283Pro)
7g.117664814G>TCA368982770CFTRc.*299G>T (n.*299G>T)
c.*3804G>T (n.*3804G>T)
c.3907G>T (p.Ala1303Ser)
c.*303G>T (n.*303G>T)
c.*743G>T (n.*743G>T)
c.4090G>T (p.Ala1364Ser)
c.*751G>T (n.*751G>T)
c.*2465G>T (n.*2465G>T)
c.4084G>T (p.Ala1362Ser)
c.*3914G>T (n.*3914G>T)
c.3664G>T (p.Ala1222Ser)
n.2258G>T
c.954G>T (n.954G>T)
c.1877G>T (n.1877G>T)
c.672G>T
c.1540G>T
c.4000G>T (p.Ala1334Ser)
c.216G>T
c.4180G>T (p.Ala1394Ser)
c.3847G>T (p.Ala1283Ser)
7g.117664815C>ACA368982778CFTRc.*300C>A (n.*300C>A)
c.*3805C>A (n.*3805C>A)
c.3908C>A (p.Ala1303Glu)
c.*304C>A (n.*304C>A)
c.*744C>A (n.*744C>A)
c.4091C>A (p.Ala1364Glu)
c.*752C>A (n.*752C>A)
c.*2466C>A (n.*2466C>A)
c.4085C>A (p.Ala1362Glu)
c.*3915C>A (n.*3915C>A)
c.3665C>A (p.Ala1222Glu)
n.2259C>A
c.955C>A (n.955C>A)
c.1878C>A (n.1878C>A)
c.673C>A
c.1541C>A
c.4001C>A (p.Ala1334Glu)
c.217C>A
c.4181C>A (p.Ala1394Glu)
c.3848C>A (p.Ala1283Glu)
7g.117664815C=CA1737422128CFTRc.*300C= (n.*300C=)
c.*3805C= (n.*3805C=)
c.3908C= (p.Ala1303=)
c.*304C= (n.*304C=)
c.*744C= (n.*744C=)
c.4091C= (p.Ala1364=)
c.*752C= (n.*752C=)
c.*2466C= (n.*2466C=)
c.4085C= (p.Ala1362=)
c.*3915C= (n.*3915C=)
c.3665C= (p.Ala1222=)
n.2259C=
c.955C= (n.955C=)
c.1878C= (n.1878C=)
c.673C=
c.1541C=
c.4001C= (p.Ala1334=)
c.217C=
c.4181C= (p.Ala1394=)
c.3848C= (p.Ala1283=)
7g.117664815C>GCA368982782CFTRc.*300C>G (n.*300C>G)
c.*3805C>G (n.*3805C>G)
c.3908C>G (p.Ala1303Gly)
c.*304C>G (n.*304C>G)
c.*744C>G (n.*744C>G)
c.4091C>G (p.Ala1364Gly)
c.*752C>G (n.*752C>G)
c.*2466C>G (n.*2466C>G)
c.4085C>G (p.Ala1362Gly)
c.*3915C>G (n.*3915C>G)
c.3665C>G (p.Ala1222Gly)
n.2259C>G
c.955C>G (n.955C>G)
c.1878C>G (n.1878C>G)
c.673C>G
c.1541C>G
c.4001C>G (p.Ala1334Gly)
c.217C>G
c.4181C>G (p.Ala1394Gly)
c.3848C>G (p.Ala1283Gly)
7g.117664815C>TCA327395CFTRc.*300C>T (n.*300C>T)
c.*3805C>T (n.*3805C>T)
c.3908C>T (p.Ala1303Val)
c.*304C>T (n.*304C>T)
c.*744C>T (n.*744C>T)
c.4091C>T (p.Ala1364Val)
c.*752C>T (n.*752C>T)
c.*2466C>T (n.*2466C>T)
c.4085C>T (p.Ala1362Val)
c.*3915C>T (n.*3915C>T)
c.3665C>T (p.Ala1222Val)
n.2259C>T
c.955C>T (n.955C>T)
c.1878C>T (n.1878C>T)
c.673C>T
c.1541C>T
c.4001C>T (p.Ala1334Val)
c.217C>T
c.4181C>T (p.Ala1394Val)
c.3848C>T (p.Ala1283Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117664816G>ACA260250CFTRc.*301G>A (n.*301G>A)
c.*3806G>A (n.*3806G>A)
c.3909G>A (p.Ala1303=)
c.*305G>A (n.*305G>A)
c.*745G>A (n.*745G>A)
c.4092G>A (p.Ala1364=)
c.*753G>A (n.*753G>A)
c.*2467G>A (n.*2467G>A)
c.4086G>A (p.Ala1362=)
c.*3916G>A (n.*3916G>A)
c.3666G>A (p.Ala1222=)
n.2260G>A
c.956G>A (n.956G>A)
c.1879G>A (n.1879G>A)
c.674G>A
c.1542G>A
c.4002G>A (p.Ala1334=)
c.218G>A
c.4182G>A (p.Ala1394=)
c.3849G>A (p.Ala1283=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117664816G>CCA457230481CFTRc.*301G>C (n.*301G>C)
c.*3806G>C (n.*3806G>C)
c.3909G>C (p.Ala1303=)
c.*305G>C (n.*305G>C)
c.*745G>C (n.*745G>C)
c.4092G>C (p.Ala1364=)
c.*753G>C (n.*753G>C)
c.*2467G>C (n.*2467G>C)
c.4086G>C (p.Ala1362=)
c.*3916G>C (n.*3916G>C)
c.3666G>C (p.Ala1222=)
n.2260G>C
c.956G>C (n.956G>C)
c.1879G>C (n.1879G>C)
c.674G>C
c.1542G>C
c.4002G>C (p.Ala1334=)
c.218G>C
c.4182G>C (p.Ala1394=)
c.3849G>C (p.Ala1283=)
7g.117664816G=CA1737422138CFTRc.*301G= (n.*301G=)
c.*3806G= (n.*3806G=)
c.3909G= (p.Ala1303=)
c.*305G= (n.*305G=)
c.*745G= (n.*745G=)
c.4092G= (p.Ala1364=)
c.*753G= (n.*753G=)
c.*2467G= (n.*2467G=)
c.4086G= (p.Ala1362=)
c.*3916G= (n.*3916G=)
c.3666G= (p.Ala1222=)
n.2260G=
c.956G= (n.956G=)
c.1879G= (n.1879G=)
c.674G=
c.1542G=
c.4002G= (p.Ala1334=)
c.218G=
c.4182G= (p.Ala1394=)
c.3849G= (p.Ala1283=)
7g.117664816G>TCA457230479CFTRc.*301G>T (n.*301G>T)
c.*3806G>T (n.*3806G>T)
c.3909G>T (p.Ala1303=)
c.*305G>T (n.*305G>T)
c.*745G>T (n.*745G>T)
c.4092G>T (p.Ala1364=)
c.*753G>T (n.*753G>T)
c.*2467G>T (n.*2467G>T)
c.4086G>T (p.Ala1362=)
c.*3916G>T (n.*3916G>T)
c.3666G>T (p.Ala1222=)
n.2260G>T
c.956G>T (n.956G>T)
c.1879G>T (n.1879G>T)
c.674G>T
c.1542G>T
c.4002G>T (p.Ala1334=)
c.218G>T
c.4182G>T (p.Ala1394=)
c.3849G>T (p.Ala1283=)
7g.117664817A>CCA368982786CFTRc.*302A>C (n.*302A>C)
c.*3807A>C (n.*3807A>C)
c.3910A>C (p.Lys1304Gln)
c.*306A>C (n.*306A>C)
c.*746A>C (n.*746A>C)
c.4093A>C (p.Lys1365Gln)
c.*754A>C (n.*754A>C)
c.*2468A>C (n.*2468A>C)
c.4087A>C (p.Lys1363Gln)
c.*3917A>C (n.*3917A>C)
c.3667A>C (p.Lys1223Gln)
n.2261A>C
c.957A>C (n.957A>C)
c.1880A>C (n.1880A>C)
c.675A>C
c.1543A>C
c.4003A>C (p.Lys1335Gln)
c.219A>C
c.4183A>C (p.Lys1395Gln)
c.3850A>C (p.Lys1284Gln)
7g.117664817A>GCA368982795CFTRc.*302A>G (n.*302A>G)
c.*3807A>G (n.*3807A>G)
c.3910A>G (p.Lys1304Glu)
c.*306A>G (n.*306A>G)
c.*746A>G (n.*746A>G)
c.4093A>G (p.Lys1365Glu)
c.*754A>G (n.*754A>G)
c.*2468A>G (n.*2468A>G)
c.4087A>G (p.Lys1363Glu)
c.*3917A>G (n.*3917A>G)
c.3667A>G (p.Lys1223Glu)
n.2261A>G
c.957A>G (n.957A>G)
c.1880A>G (n.1880A>G)
c.675A>G
c.1543A>G
c.4003A>G (p.Lys1335Glu)
c.219A>G
c.4183A>G (p.Lys1395Glu)
c.3850A>G (p.Lys1284Glu)
ClinVar
7g.117664817A>TCA368982788CFTRc.*302A>T (n.*302A>T)
c.*3807A>T (n.*3807A>T)
c.3910A>T (p.Lys1304Ter)
c.*306A>T (n.*306A>T)
c.*746A>T (n.*746A>T)
c.4093A>T (p.Lys1365Ter)
c.*754A>T (n.*754A>T)
c.*2468A>T (n.*2468A>T)
c.4087A>T (p.Lys1363Ter)
c.*3917A>T (n.*3917A>T)
c.3667A>T (p.Lys1223Ter)
n.2261A>T
c.957A>T (n.957A>T)
c.1880A>T (n.1880A>T)
c.675A>T
c.1543A>T
c.4003A>T (p.Lys1335Ter)
c.219A>T
c.4183A>T (p.Lys1395Ter)
c.3850A>T (p.Lys1284Ter)
7g.117664818A>CCA368982801CFTRc.*303A>C (n.*303A>C)
c.*3808A>C (n.*3808A>C)
c.3911A>C (p.Lys1304Thr)
c.*307A>C (n.*307A>C)
c.*747A>C (n.*747A>C)
c.4094A>C (p.Lys1365Thr)
c.*755A>C (n.*755A>C)
c.*2469A>C (n.*2469A>C)
c.4088A>C (p.Lys1363Thr)
c.*3918A>C (n.*3918A>C)
c.3668A>C (p.Lys1223Thr)
n.2262A>C
c.958A>C (n.958A>C)
c.1881A>C (n.1881A>C)
c.676A>C
c.1544A>C
c.4004A>C (p.Lys1335Thr)
c.220A>C
c.4184A>C (p.Lys1395Thr)
c.3851A>C (p.Lys1284Thr)
7g.117664818A>GCA368982803CFTRc.*303A>G (n.*303A>G)
c.*3808A>G (n.*3808A>G)
c.3911A>G (p.Lys1304Arg)
c.*307A>G (n.*307A>G)
c.*747A>G (n.*747A>G)
c.4094A>G (p.Lys1365Arg)
c.*755A>G (n.*755A>G)
c.*2469A>G (n.*2469A>G)
c.4088A>G (p.Lys1363Arg)
c.*3918A>G (n.*3918A>G)
c.3668A>G (p.Lys1223Arg)
n.2262A>G
c.958A>G (n.958A>G)
c.1881A>G (n.1881A>G)
c.676A>G
c.1544A>G
c.4004A>G (p.Lys1335Arg)
c.220A>G
c.4184A>G (p.Lys1395Arg)
c.3851A>G (p.Lys1284Arg)
7g.117664818A>TCA368982805CFTRc.*303A>T (n.*303A>T)
c.*3808A>T (n.*3808A>T)
c.3911A>T (p.Lys1304Met)
c.*307A>T (n.*307A>T)
c.*747A>T (n.*747A>T)
c.4094A>T (p.Lys1365Met)
c.*755A>T (n.*755A>T)
c.*2469A>T (n.*2469A>T)
c.4088A>T (p.Lys1363Met)
c.*3918A>T (n.*3918A>T)
c.3668A>T (p.Lys1223Met)
n.2262A>T
c.958A>T (n.958A>T)
c.1881A>T (n.1881A>T)
c.676A>T
c.1544A>T
c.4004A>T (p.Lys1335Met)
c.220A>T
c.4184A>T (p.Lys1395Met)
c.3851A>T (p.Lys1284Met)
7g.117664819G>ACA4451627CFTRc.*304G>A (n.*304G>A)
c.*3809G>A (n.*3809G>A)
c.3912G>A (p.Lys1304=)
c.*308G>A (n.*308G>A)
c.*748G>A (n.*748G>A)
c.4095G>A (p.Lys1365=)
c.*756G>A (n.*756G>A)
c.*2470G>A (n.*2470G>A)
c.4089G>A (p.Lys1363=)
c.*3919G>A (n.*3919G>A)
c.3669G>A (p.Lys1223=)
n.2263G>A
c.959G>A (n.959G>A)
c.1882G>A (n.1882G>A)
c.677G>A
c.1545G>A
c.4005G>A (p.Lys1335=)
c.221G>A
c.4185G>A (p.Lys1395=)
c.3852G>A (p.Lys1284=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117664819G>CCA368982811CFTRc.*304G>C (n.*304G>C)
c.*3809G>C (n.*3809G>C)
c.3912G>C (p.Lys1304Asn)
c.*308G>C (n.*308G>C)
c.*748G>C (n.*748G>C)
c.4095G>C (p.Lys1365Asn)
c.*756G>C (n.*756G>C)
c.*2470G>C (n.*2470G>C)
c.4089G>C (p.Lys1363Asn)
c.*3919G>C (n.*3919G>C)
c.3669G>C (p.Lys1223Asn)
n.2263G>C
c.959G>C (n.959G>C)
c.1882G>C (n.1882G>C)
c.677G>C
c.1545G>C
c.4005G>C (p.Lys1335Asn)
c.221G>C
c.4185G>C (p.Lys1395Asn)
c.3852G>C (p.Lys1284Asn)
7g.117664819G=CA1737422146CFTRc.*304G= (n.*304G=)
c.*3809G= (n.*3809G=)
c.3912G= (p.Lys1304=)
c.*308G= (n.*308G=)
c.*748G= (n.*748G=)
c.4095G= (p.Lys1365=)
c.*756G= (n.*756G=)
c.*2470G= (n.*2470G=)
c.4089G= (p.Lys1363=)
c.*3919G= (n.*3919G=)
c.3669G= (p.Lys1223=)
n.2263G=
c.959G= (n.959G=)
c.1882G= (n.1882G=)
c.677G=
c.1545G=
c.4005G= (p.Lys1335=)
c.221G=
c.4185G= (p.Lys1395=)
c.3852G= (p.Lys1284=)
7g.117664819G>TCA368982815CFTRc.*304G>T (n.*304G>T)
c.*3809G>T (n.*3809G>T)
c.3912G>T (p.Lys1304Asn)
c.*308G>T (n.*308G>T)
c.*748G>T (n.*748G>T)
c.4095G>T (p.Lys1365Asn)
c.*756G>T (n.*756G>T)
c.*2470G>T (n.*2470G>T)
c.4089G>T (p.Lys1363Asn)
c.*3919G>T (n.*3919G>T)
c.3669G>T (p.Lys1223Asn)
n.2263G>T
c.959G>T (n.959G>T)
c.1882G>T (n.1882G>T)
c.677G>T
c.1545G>T
c.4005G>T (p.Lys1335Asn)
c.221G>T
c.4185G>T (p.Lys1395Asn)
c.3852G>T (p.Lys1284Asn)
dbSNP gnomAD v3 gnomAD v4
7g.117664820A=CA1737422148CFTRc.*305A= (n.*305A=)
c.*3810A= (n.*3810A=)
c.3913A= (p.Ile1305=)
c.*309A= (n.*309A=)
c.*749A= (n.*749A=)
c.4096A= (p.Ile1366=)
c.*757A= (n.*757A=)
c.*2471A= (n.*2471A=)
c.4090A= (p.Ile1364=)
c.*3920A= (n.*3920A=)
c.3670A= (p.Ile1224=)
n.2264A=
c.960A= (n.960A=)
c.1883A= (n.1883A=)
c.678A=
c.1546A=
c.4006A= (p.Ile1336=)
c.222A=
c.4186A= (p.Ile1396=)
c.3853A= (p.Ile1285=)
7g.117664820A>CCA368982816CFTRc.*305A>C (n.*305A>C)
c.*3810A>C (n.*3810A>C)
c.3913A>C (p.Ile1305Leu)
c.*309A>C (n.*309A>C)
c.*749A>C (n.*749A>C)
c.4096A>C (p.Ile1366Leu)
c.*757A>C (n.*757A>C)
c.*2471A>C (n.*2471A>C)
c.4090A>C (p.Ile1364Leu)
c.*3920A>C (n.*3920A>C)
c.3670A>C (p.Ile1224Leu)
n.2264A>C
c.960A>C (n.960A>C)
c.1883A>C (n.1883A>C)
c.678A>C
c.1546A>C
c.4006A>C (p.Ile1336Leu)
c.222A>C
c.4186A>C (p.Ile1396Leu)
c.3853A>C (p.Ile1285Leu)
7g.117664820A>GCA368982817CFTRc.*305A>G (n.*305A>G)
c.*3810A>G (n.*3810A>G)
c.3913A>G (p.Ile1305Val)
c.*309A>G (n.*309A>G)
c.*749A>G (n.*749A>G)
c.4096A>G (p.Ile1366Val)
c.*757A>G (n.*757A>G)
c.*2471A>G (n.*2471A>G)
c.4090A>G (p.Ile1364Val)
c.*3920A>G (n.*3920A>G)
c.3670A>G (p.Ile1224Val)
n.2264A>G
c.960A>G (n.960A>G)
c.1883A>G (n.1883A>G)
c.678A>G
c.1546A>G
c.4006A>G (p.Ile1336Val)
c.222A>G
c.4186A>G (p.Ile1396Val)
c.3853A>G (p.Ile1285Val)
ClinVar
7g.117664820A>TCA4451628CFTRc.*305A>T (n.*305A>T)
c.*3810A>T (n.*3810A>T)
c.3913A>T (p.Ile1305Phe)
c.*309A>T (n.*309A>T)
c.*749A>T (n.*749A>T)
c.4096A>T (p.Ile1366Phe)
c.*757A>T (n.*757A>T)
c.*2471A>T (n.*2471A>T)
c.4090A>T (p.Ile1364Phe)
c.*3920A>T (n.*3920A>T)
c.3670A>T (p.Ile1224Phe)
n.2264A>T
c.960A>T (n.960A>T)
c.1883A>T (n.1883A>T)
c.678A>T
c.1546A>T
c.4006A>T (p.Ile1336Phe)
c.222A>T
c.4186A>T (p.Ile1396Phe)
c.3853A>T (p.Ile1285Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117664821T>ACA368982825CFTRc.*306T>A (n.*306T>A)
c.*3811T>A (n.*3811T>A)
c.3914T>A (p.Ile1305Asn)
c.*310T>A (n.*310T>A)
c.*750T>A (n.*750T>A)
c.4097T>A (p.Ile1366Asn)
c.*758T>A (n.*758T>A)
c.*2472T>A (n.*2472T>A)
c.4091T>A (p.Ile1364Asn)
c.*3921T>A (n.*3921T>A)
c.3671T>A (p.Ile1224Asn)
n.2265T>A
c.961T>A (n.961T>A)
c.1884T>A (n.1884T>A)
c.679T>A
c.1547T>A
c.4007T>A (p.Ile1336Asn)
c.223T>A
c.4187T>A (p.Ile1396Asn)
c.3854T>A (p.Ile1285Asn)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117664821T>CCA4451629CFTRc.*306T>C (n.*306T>C)
c.*3811T>C (n.*3811T>C)
c.3914T>C (p.Ile1305Thr)
c.*310T>C (n.*310T>C)
c.*750T>C (n.*750T>C)
c.4097T>C (p.Ile1366Thr)
c.*758T>C (n.*758T>C)
c.*2472T>C (n.*2472T>C)
c.4091T>C (p.Ile1364Thr)
c.*3921T>C (n.*3921T>C)
c.3671T>C (p.Ile1224Thr)
n.2265T>C
c.961T>C (n.961T>C)
c.1884T>C (n.1884T>C)
c.679T>C
c.1547T>C
c.4007T>C (p.Ile1336Thr)
c.223T>C
c.4187T>C (p.Ile1396Thr)
c.3854T>C (p.Ile1285Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117664821T>GCA368982830CFTRc.*306T>G (n.*306T>G)
c.*3811T>G (n.*3811T>G)
c.3914T>G (p.Ile1305Ser)
c.*310T>G (n.*310T>G)
c.*750T>G (n.*750T>G)
c.4097T>G (p.Ile1366Ser)
c.*758T>G (n.*758T>G)
c.*2472T>G (n.*2472T>G)
c.4091T>G (p.Ile1364Ser)
c.*3921T>G (n.*3921T>G)
c.3671T>G (p.Ile1224Ser)
n.2265T>G
c.961T>G (n.961T>G)
c.1884T>G (n.1884T>G)
c.679T>G
c.1547T>G
c.4007T>G (p.Ile1336Ser)
c.223T>G
c.4187T>G (p.Ile1396Ser)
c.3854T>G (p.Ile1285Ser)
7g.117664821T=CA1737422158CFTRc.*306T= (n.*306T=)
c.*3811T= (n.*3811T=)
c.3914T= (p.Ile1305=)
c.*310T= (n.*310T=)
c.*750T= (n.*750T=)
c.4097T= (p.Ile1366=)
c.*758T= (n.*758T=)
c.*2472T= (n.*2472T=)
c.4091T= (p.Ile1364=)
c.*3921T= (n.*3921T=)
c.3671T= (p.Ile1224=)
n.2265T=
c.961T= (n.961T=)
c.1884T= (n.1884T=)
c.679T=
c.1547T=
c.4007T= (p.Ile1336=)
c.223T=
c.4187T= (p.Ile1396=)
c.3854T= (p.Ile1285=)
7g.117664822C>ACA457230506CFTRc.*307C>A (n.*307C>A)
c.*3812C>A (n.*3812C>A)
c.3915C>A (p.Ile1305=)
c.*311C>A (n.*311C>A)
c.*751C>A (n.*751C>A)
c.4098C>A (p.Ile1366=)
c.*759C>A (n.*759C>A)
c.*2473C>A (n.*2473C>A)
c.4092C>A (p.Ile1364=)
c.*3922C>A (n.*3922C>A)
c.3672C>A (p.Ile1224=)
n.2266C>A
c.962C>A (n.962C>A)
c.1885C>A (n.1885C>A)
c.680C>A
c.1548C>A
c.4008C>A (p.Ile1336=)
c.224C>A
c.4188C>A (p.Ile1396=)
c.3855C>A (p.Ile1285=)
7g.117664822C=CA1737422162CFTRc.*307C= (n.*307C=)
c.*3812C= (n.*3812C=)
c.3915C= (p.Ile1305=)
c.*311C= (n.*311C=)
c.*751C= (n.*751C=)
c.4098C= (p.Ile1366=)
c.*759C= (n.*759C=)
c.*2473C= (n.*2473C=)
c.4092C= (p.Ile1364=)
c.*3922C= (n.*3922C=)
c.3672C= (p.Ile1224=)
n.2266C=
c.962C= (n.962C=)
c.1885C= (n.1885C=)
c.680C=
c.1548C=
c.4008C= (p.Ile1336=)
c.224C=
c.4188C= (p.Ile1396=)
c.3855C= (p.Ile1285=)
7g.117664822C>GCA368982833CFTRc.*307C>G (n.*307C>G)
c.*3812C>G (n.*3812C>G)
c.3915C>G (p.Ile1305Met)
c.*311C>G (n.*311C>G)
c.*751C>G (n.*751C>G)
c.4098C>G (p.Ile1366Met)
c.*759C>G (n.*759C>G)
c.*2473C>G (n.*2473C>G)
c.4092C>G (p.Ile1364Met)
c.*3922C>G (n.*3922C>G)
c.3672C>G (p.Ile1224Met)
n.2266C>G
c.962C>G (n.962C>G)
c.1885C>G (n.1885C>G)
c.680C>G
c.1548C>G
c.4008C>G (p.Ile1336Met)
c.224C>G
c.4188C>G (p.Ile1396Met)
c.3855C>G (p.Ile1285Met)
dbSNP

Number of alleles fetched