UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117660798_117670251delinsTAACT | CA2580076337 | CFTR | c.90-3890_368+4687delinsTAACT | ClinVar |
| 7 | g.117664610_117666141del | CA264802 | CFTR | c.*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 |
| 7 | g.117664686_117665563delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT | CA1737421696 | CFTR | c.*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 | |
| 7 | g.117664688_117667108del | CA913189944 | CFTR | c.*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 |
| 7 | g.117664690_117665566del | CA913189945 | CFTR | c.*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 |
| 7 | g.117664710_117664712delinsAAC | CA1737421781 | CFTR | c.*195_*197delinsAAC (n.*195_*197delinsAAC) c.*3700_*3702delinsAAC (n.*3700_*3702delinsAAC) c.3803_3805delinsAAC (p.Glu1268=) c.*199_*201delinsAAC (n.*199_*201delinsAAC) c.*639_*641delinsAAC (n.*639_*641delinsAAC) c.3986_3988delinsAAC (p.Glu1329=) c.*647_*649delinsAAC (n.*647_*649delinsAAC) c.*2361_*2363delinsAAC (n.*2361_*2363delinsAAC) c.3980_3982delinsAAC (p.Glu1327=) c.*3810_*3812delinsAAC (n.*3810_*3812delinsAAC) c.3560_3562delinsAAC (p.Glu1187=) n.2154_2156delinsAAC c.850_852delinsAAC (n.850_852delinsAAC) c.1773_1775delinsAAC (n.1773_1775delinsAAC) c.568_570delinsAAC c.1436_1438delinsAAC c.3896_3898delinsAAC (p.Glu1299=) c.112_114delinsAAC c.4076_4078delinsAAC (p.Glu1359=) c.3743_3745delinsAAC (p.Glu1248=) | |
| 7 | g.117664711A>C | CA368981934 | CFTR | c.*196A>C (n.*196A>C) c.*3701A>C (n.*3701A>C) c.3804A>C (p.Glu1268Asp) c.*200A>C (n.*200A>C) c.*640A>C (n.*640A>C) c.3987A>C (p.Glu1329Asp) c.*648A>C (n.*648A>C) c.*2362A>C (n.*2362A>C) c.3981A>C (p.Glu1327Asp) c.*3811A>C (n.*3811A>C) c.3561A>C (p.Glu1187Asp) n.2155A>C c.851A>C (n.851A>C) c.1774A>C (n.1774A>C) c.569A>C c.1437A>C c.3897A>C (p.Glu1299Asp) c.113A>C c.4077A>C (p.Glu1359Asp) c.3744A>C (p.Glu1248Asp) | |
| 7 | g.117664711A>G | CA457230270 | CFTR | c.*196A>G (n.*196A>G) c.*3701A>G (n.*3701A>G) c.3804A>G (p.Glu1268=) c.*200A>G (n.*200A>G) c.*640A>G (n.*640A>G) c.3987A>G (p.Glu1329=) c.*648A>G (n.*648A>G) c.*2362A>G (n.*2362A>G) c.3981A>G (p.Glu1327=) c.*3811A>G (n.*3811A>G) c.3561A>G (p.Glu1187=) n.2155A>G c.851A>G (n.851A>G) c.1774A>G (n.1774A>G) c.569A>G c.1437A>G c.3897A>G (p.Glu1299=) c.113A>G c.4077A>G (p.Glu1359=) c.3744A>G (p.Glu1248=) | |
| 7 | g.117664711A>T | CA368981941 | CFTR | c.*196A>T (n.*196A>T) c.*3701A>T (n.*3701A>T) c.3804A>T (p.Glu1268Asp) c.*200A>T (n.*200A>T) c.*640A>T (n.*640A>T) c.3987A>T (p.Glu1329Asp) c.*648A>T (n.*648A>T) c.*2362A>T (n.*2362A>T) c.3981A>T (p.Glu1327Asp) c.*3811A>T (n.*3811A>T) c.3561A>T (p.Glu1187Asp) n.2155A>T c.851A>T (n.851A>T) c.1774A>T (n.1774A>T) c.569A>T c.1437A>T c.3897A>T (p.Glu1299Asp) c.113A>T c.4077A>T (p.Glu1359Asp) c.3744A>T (p.Glu1248Asp) | |
| 7 | g.117664712_117664713del | CA16041140 | CFTR | c.*197_*198del (n.*197_*198del) c.*3702_*3703del (n.*3702_*3703del) c.3805_3806del (p.Gln1269ValfsTer6) c.*201_*202del (n.*201_*202del) c.*641_*642del (n.*641_*642del) c.3988_3989del (p.Gln1330ValfsTer6) c.*649_*650del (n.*649_*650del) c.*2363_*2364del (n.*2363_*2364del) c.3982_3983del (p.Gln1328ValfsTer6) c.*3812_*3813del (n.*3812_*3813del) c.3562_3563del (p.Gln1188ValfsTer6) n.2156_2157del c.852_853del (n.852_853del) c.1775_1776del (n.1775_1776del) c.570_571del c.1438_1439del c.3898_3899del (p.Gln1300ValfsTer6) c.114_115del c.4078_4079del (p.Gln1360ValfsTer6) c.3745_3746del (p.Gln1249ValfsTer6) | ClinVar dbSNP |
| 7 | g.117664712C>A | CA368981985 | CFTR | c.*197C>A (n.*197C>A) c.*3702C>A (n.*3702C>A) c.3805C>A (p.Gln1269Lys) c.*201C>A (n.*201C>A) c.*641C>A (n.*641C>A) c.3988C>A (p.Gln1330Lys) c.*649C>A (n.*649C>A) c.*2363C>A (n.*2363C>A) c.3982C>A (p.Gln1328Lys) c.*3812C>A (n.*3812C>A) c.3562C>A (p.Gln1188Lys) n.2156C>A c.852C>A (n.852C>A) c.1775C>A (n.1775C>A) c.570C>A c.1438C>A c.3898C>A (p.Gln1300Lys) c.114C>A c.4078C>A (p.Gln1360Lys) c.3745C>A (p.Gln1249Lys) | |
| 7 | g.117664712C= | CA1737421791 | CFTR | c.*197C= (n.*197C=) c.*3702C= (n.*3702C=) c.3805C= (p.Gln1269=) c.*201C= (n.*201C=) c.*641C= (n.*641C=) c.3988C= (p.Gln1330=) c.*649C= (n.*649C=) c.*2363C= (n.*2363C=) c.3982C= (p.Gln1328=) c.*3812C= (n.*3812C=) c.3562C= (p.Gln1188=) n.2156C= c.852C= (n.852C=) c.1775C= (n.1775C=) c.570C= c.1438C= c.3898C= (p.Gln1300=) c.114C= c.4078C= (p.Gln1360=) c.3745C= (p.Gln1249=) | |
| 7 | g.117664712C>G | CA164960079 | CFTR | c.*197C>G (n.*197C>G) c.*3702C>G (n.*3702C>G) c.3805C>G (p.Gln1269Glu) c.*201C>G (n.*201C>G) c.*641C>G (n.*641C>G) c.3988C>G (p.Gln1330Glu) c.*649C>G (n.*649C>G) c.*2363C>G (n.*2363C>G) c.3982C>G (p.Gln1328Glu) c.*3812C>G (n.*3812C>G) c.3562C>G (p.Gln1188Glu) n.2156C>G c.852C>G (n.852C>G) c.1775C>G (n.1775C>G) c.570C>G c.1438C>G c.3898C>G (p.Gln1300Glu) c.114C>G c.4078C>G (p.Gln1360Glu) c.3745C>G (p.Gln1249Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117664712C>T | CA368981990 | CFTR | c.*197C>T (n.*197C>T) c.*3702C>T (n.*3702C>T) c.3805C>T (p.Gln1269Ter) c.*201C>T (n.*201C>T) c.*641C>T (n.*641C>T) c.3988C>T (p.Gln1330Ter) c.*649C>T (n.*649C>T) c.*2363C>T (n.*2363C>T) c.3982C>T (p.Gln1328Ter) c.*3812C>T (n.*3812C>T) c.3562C>T (p.Gln1188Ter) n.2156C>T c.852C>T (n.852C>T) c.1775C>T (n.1775C>T) c.570C>T c.1438C>T c.3898C>T (p.Gln1300Ter) c.114C>T c.4078C>T (p.Gln1360Ter) c.3745C>T (p.Gln1249Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117664713A= | CA1737421796 | CFTR | c.*198A= (n.*198A=) c.*3703A= (n.*3703A=) c.3806A= (p.Gln1269=) c.*202A= (n.*202A=) c.*642A= (n.*642A=) c.3989A= (p.Gln1330=) c.*650A= (n.*650A=) c.*2364A= (n.*2364A=) c.3983A= (p.Gln1328=) c.*3813A= (n.*3813A=) c.3563A= (p.Gln1188=) n.2157A= c.853A= (n.853A=) c.1776A= (n.1776A=) c.571A= c.1439A= c.3899A= (p.Gln1300=) c.115A= c.4079A= (p.Gln1360=) c.3746A= (p.Gln1249=) | |
| 7 | g.117664713A>C | CA368981994 | CFTR | c.*198A>C (n.*198A>C) c.*3703A>C (n.*3703A>C) c.3806A>C (p.Gln1269Pro) c.*202A>C (n.*202A>C) c.*642A>C (n.*642A>C) c.3989A>C (p.Gln1330Pro) c.*650A>C (n.*650A>C) c.*2364A>C (n.*2364A>C) c.3983A>C (p.Gln1328Pro) c.*3813A>C (n.*3813A>C) c.3563A>C (p.Gln1188Pro) n.2157A>C c.853A>C (n.853A>C) c.1776A>C (n.1776A>C) c.571A>C c.1439A>C c.3899A>C (p.Gln1300Pro) c.115A>C c.4079A>C (p.Gln1360Pro) c.3746A>C (p.Gln1249Pro) | |
| 7 | g.117664713A>G | CA368982002 | CFTR | c.*198A>G (n.*198A>G) c.*3703A>G (n.*3703A>G) c.3806A>G (p.Gln1269Arg) c.*202A>G (n.*202A>G) c.*642A>G (n.*642A>G) c.3989A>G (p.Gln1330Arg) c.*650A>G (n.*650A>G) c.*2364A>G (n.*2364A>G) c.3983A>G (p.Gln1328Arg) c.*3813A>G (n.*3813A>G) c.3563A>G (p.Gln1188Arg) n.2157A>G c.853A>G (n.853A>G) c.1776A>G (n.1776A>G) c.571A>G c.1439A>G c.3899A>G (p.Gln1300Arg) c.115A>G c.4079A>G (p.Gln1360Arg) c.3746A>G (p.Gln1249Arg) | ClinVar dbSNP |
| 7 | g.117664713A>T | CA368981998 | CFTR | c.*198A>T (n.*198A>T) c.*3703A>T (n.*3703A>T) c.3806A>T (p.Gln1269Leu) c.*202A>T (n.*202A>T) c.*642A>T (n.*642A>T) c.3989A>T (p.Gln1330Leu) c.*650A>T (n.*650A>T) c.*2364A>T (n.*2364A>T) c.3983A>T (p.Gln1328Leu) c.*3813A>T (n.*3813A>T) c.3563A>T (p.Gln1188Leu) n.2157A>T c.853A>T (n.853A>T) c.1776A>T (n.1776A>T) c.571A>T c.1439A>T c.3899A>T (p.Gln1300Leu) c.115A>T c.4079A>T (p.Gln1360Leu) c.3746A>T (p.Gln1249Leu) | |
| 7 | g.117664714G>A | CA457230271 | CFTR | c.*199G>A (n.*199G>A) c.*3704G>A (n.*3704G>A) c.3807G>A (p.Gln1269=) c.*203G>A (n.*203G>A) c.*643G>A (n.*643G>A) c.3990G>A (p.Gln1330=) c.*651G>A (n.*651G>A) c.*2365G>A (n.*2365G>A) c.3984G>A (p.Gln1328=) c.*3814G>A (n.*3814G>A) c.3564G>A (p.Gln1188=) n.2158G>A c.854G>A (n.854G>A) c.1777G>A (n.1777G>A) c.572G>A c.1440G>A c.3900G>A (p.Gln1300=) c.116G>A c.4080G>A (p.Gln1360=) c.3747G>A (p.Gln1249=) | |
| 7 | g.117664714G>C | CA368982005 | CFTR | c.*199G>C (n.*199G>C) c.*3704G>C (n.*3704G>C) c.3807G>C (p.Gln1269His) c.*203G>C (n.*203G>C) c.*643G>C (n.*643G>C) c.3990G>C (p.Gln1330His) c.*651G>C (n.*651G>C) c.*2365G>C (n.*2365G>C) c.3984G>C (p.Gln1328His) c.*3814G>C (n.*3814G>C) c.3564G>C (p.Gln1188His) n.2158G>C c.854G>C (n.854G>C) c.1777G>C (n.1777G>C) c.572G>C c.1440G>C c.3900G>C (p.Gln1300His) c.116G>C c.4080G>C (p.Gln1360His) c.3747G>C (p.Gln1249His) | |
| 7 | g.117664714G>T | CA368982008 | CFTR | c.*199G>T (n.*199G>T) c.*3704G>T (n.*3704G>T) c.3807G>T (p.Gln1269His) c.*203G>T (n.*203G>T) c.*643G>T (n.*643G>T) c.3990G>T (p.Gln1330His) c.*651G>T (n.*651G>T) c.*2365G>T (n.*2365G>T) c.3984G>T (p.Gln1328His) c.*3814G>T (n.*3814G>T) c.3564G>T (p.Gln1188His) n.2158G>T c.854G>T (n.854G>T) c.1777G>T (n.1777G>T) c.572G>T c.1440G>T c.3900G>T (p.Gln1300His) c.116G>T c.4080G>T (p.Gln1360His) c.3747G>T (p.Gln1249His) | |
| 7 | g.117664715T>A | CA368982012 | CFTR | c.*200T>A (n.*200T>A) c.*3705T>A (n.*3705T>A) c.3808T>A (p.Phe1270Ile) c.*204T>A (n.*204T>A) c.*644T>A (n.*644T>A) c.3991T>A (p.Phe1331Ile) c.*652T>A (n.*652T>A) c.*2366T>A (n.*2366T>A) c.3985T>A (p.Phe1329Ile) c.*3815T>A (n.*3815T>A) c.3565T>A (p.Phe1189Ile) n.2159T>A c.855T>A (n.855T>A) c.1778T>A (n.1778T>A) c.573T>A c.1441T>A c.3901T>A (p.Phe1301Ile) c.117T>A c.4081T>A (p.Phe1361Ile) c.3748T>A (p.Phe1250Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117664715T>C | CA368982017 | CFTR | c.*200T>C (n.*200T>C) c.*3705T>C (n.*3705T>C) c.3808T>C (p.Phe1270Leu) c.*204T>C (n.*204T>C) c.*644T>C (n.*644T>C) c.3991T>C (p.Phe1331Leu) c.*652T>C (n.*652T>C) c.*2366T>C (n.*2366T>C) c.3985T>C (p.Phe1329Leu) c.*3815T>C (n.*3815T>C) c.3565T>C (p.Phe1189Leu) n.2159T>C c.855T>C (n.855T>C) c.1778T>C (n.1778T>C) c.573T>C c.1441T>C c.3901T>C (p.Phe1301Leu) c.117T>C c.4081T>C (p.Phe1361Leu) c.3748T>C (p.Phe1250Leu) | gnomAD v4 |
| 7 | g.117664715T>G | CA368982021 | CFTR | c.*200T>G (n.*200T>G) c.*3705T>G (n.*3705T>G) c.3808T>G (p.Phe1270Val) c.*204T>G (n.*204T>G) c.*644T>G (n.*644T>G) c.3991T>G (p.Phe1331Val) c.*652T>G (n.*652T>G) c.*2366T>G (n.*2366T>G) c.3985T>G (p.Phe1329Val) c.*3815T>G (n.*3815T>G) c.3565T>G (p.Phe1189Val) n.2159T>G c.855T>G (n.855T>G) c.1778T>G (n.1778T>G) c.573T>G c.1441T>G c.3901T>G (p.Phe1301Val) c.117T>G c.4081T>G (p.Phe1361Val) c.3748T>G (p.Phe1250Val) | |
| 7 | g.117664715T= | CA1737421802 | CFTR | c.*200T= (n.*200T=) c.*3705T= (n.*3705T=) c.3808T= (p.Phe1270=) c.*204T= (n.*204T=) c.*644T= (n.*644T=) c.3991T= (p.Phe1331=) c.*652T= (n.*652T=) c.*2366T= (n.*2366T=) c.3985T= (p.Phe1329=) c.*3815T= (n.*3815T=) c.3565T= (p.Phe1189=) n.2159T= c.855T= (n.855T=) c.1778T= (n.1778T=) c.573T= c.1441T= c.3901T= (p.Phe1301=) c.117T= c.4081T= (p.Phe1361=) c.3748T= (p.Phe1250=) | |
| 7 | g.117664716T>A | CA368982025 | CFTR | c.*201T>A (n.*201T>A) c.*3706T>A (n.*3706T>A) c.3809T>A (p.Phe1270Tyr) c.*205T>A (n.*205T>A) c.*645T>A (n.*645T>A) c.3992T>A (p.Phe1331Tyr) c.*653T>A (n.*653T>A) c.*2367T>A (n.*2367T>A) c.3986T>A (p.Phe1329Tyr) c.*3816T>A (n.*3816T>A) c.3566T>A (p.Phe1189Tyr) n.2160T>A c.856T>A (n.856T>A) c.1779T>A (n.1779T>A) c.574T>A c.1442T>A c.3902T>A (p.Phe1301Tyr) c.118T>A c.4082T>A (p.Phe1361Tyr) c.3749T>A (p.Phe1250Tyr) | |
| 7 | g.117664716T>C | CA368982029 | CFTR | c.*201T>C (n.*201T>C) c.*3706T>C (n.*3706T>C) c.3809T>C (p.Phe1270Ser) c.*205T>C (n.*205T>C) c.*645T>C (n.*645T>C) c.3992T>C (p.Phe1331Ser) c.*653T>C (n.*653T>C) c.*2367T>C (n.*2367T>C) c.3986T>C (p.Phe1329Ser) c.*3816T>C (n.*3816T>C) c.3566T>C (p.Phe1189Ser) n.2160T>C c.856T>C (n.856T>C) c.1779T>C (n.1779T>C) c.574T>C c.1442T>C c.3902T>C (p.Phe1301Ser) c.118T>C c.4082T>C (p.Phe1361Ser) c.3749T>C (p.Phe1250Ser) | |
| 7 | g.117664716T>G | CA368982030 | CFTR | c.*201T>G (n.*201T>G) c.*3706T>G (n.*3706T>G) c.3809T>G (p.Phe1270Cys) c.*205T>G (n.*205T>G) c.*645T>G (n.*645T>G) c.3992T>G (p.Phe1331Cys) c.*653T>G (n.*653T>G) c.*2367T>G (n.*2367T>G) c.3986T>G (p.Phe1329Cys) c.*3816T>G (n.*3816T>G) c.3566T>G (p.Phe1189Cys) n.2160T>G c.856T>G (n.856T>G) c.1779T>G (n.1779T>G) c.574T>G c.1442T>G c.3902T>G (p.Phe1301Cys) c.118T>G c.4082T>G (p.Phe1361Cys) c.3749T>G (p.Phe1250Cys) | |
| 7 | g.117664717T>A | CA4451607 | CFTR | c.*202T>A (n.*202T>A) c.*3707T>A (n.*3707T>A) c.3810T>A (p.Phe1270Leu) c.*206T>A (n.*206T>A) c.*646T>A (n.*646T>A) c.3993T>A (p.Phe1331Leu) c.*654T>A (n.*654T>A) c.*2368T>A (n.*2368T>A) c.3987T>A (p.Phe1329Leu) c.*3817T>A (n.*3817T>A) c.3567T>A (p.Phe1189Leu) n.2161T>A c.857T>A (n.857T>A) c.1780T>A (n.1780T>A) c.575T>A c.1443T>A c.3903T>A (p.Phe1301Leu) c.119T>A c.4083T>A (p.Phe1361Leu) c.3750T>A (p.Phe1250Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117664717T>C | CA457230272 | CFTR | c.*202T>C (n.*202T>C) c.*3707T>C (n.*3707T>C) c.3810T>C (p.Phe1270=) c.*206T>C (n.*206T>C) c.*646T>C (n.*646T>C) c.3993T>C (p.Phe1331=) c.*654T>C (n.*654T>C) c.*2368T>C (n.*2368T>C) c.3987T>C (p.Phe1329=) c.*3817T>C (n.*3817T>C) c.3567T>C (p.Phe1189=) n.2161T>C c.857T>C (n.857T>C) c.1780T>C (n.1780T>C) c.575T>C c.1443T>C c.3903T>C (p.Phe1301=) c.119T>C c.4083T>C (p.Phe1361=) c.3750T>C (p.Phe1250=) | |
| 7 | g.117664717T>G | CA368982041 | CFTR | c.*202T>G (n.*202T>G) c.*3707T>G (n.*3707T>G) c.3810T>G (p.Phe1270Leu) c.*206T>G (n.*206T>G) c.*646T>G (n.*646T>G) c.3993T>G (p.Phe1331Leu) c.*654T>G (n.*654T>G) c.*2368T>G (n.*2368T>G) c.3987T>G (p.Phe1329Leu) c.*3817T>G (n.*3817T>G) c.3567T>G (p.Phe1189Leu) n.2161T>G c.857T>G (n.857T>G) c.1780T>G (n.1780T>G) c.575T>G c.1443T>G c.3903T>G (p.Phe1301Leu) c.119T>G c.4083T>G (p.Phe1361Leu) c.3750T>G (p.Phe1250Leu) | |
| 7 | g.117664717T= | CA1737421808 | CFTR | c.*202T= (n.*202T=) c.*3707T= (n.*3707T=) c.3810T= (p.Phe1270=) c.*206T= (n.*206T=) c.*646T= (n.*646T=) c.3993T= (p.Phe1331=) c.*654T= (n.*654T=) c.*2368T= (n.*2368T=) c.3987T= (p.Phe1329=) c.*3817T= (n.*3817T=) c.3567T= (p.Phe1189=) n.2161T= c.857T= (n.857T=) c.1780T= (n.1780T=) c.575T= c.1443T= c.3903T= (p.Phe1301=) c.119T= c.4083T= (p.Phe1361=) c.3750T= (p.Phe1250=) | |
| 7 | g.117664718C>A | CA368982046 | CFTR | c.*203C>A (n.*203C>A) c.*3708C>A (n.*3708C>A) c.3811C>A (p.Pro1271Thr) c.*207C>A (n.*207C>A) c.*647C>A (n.*647C>A) c.3994C>A (p.Pro1332Thr) c.*655C>A (n.*655C>A) c.*2369C>A (n.*2369C>A) c.3988C>A (p.Pro1330Thr) c.*3818C>A (n.*3818C>A) c.3568C>A (p.Pro1190Thr) n.2162C>A c.858C>A (n.858C>A) c.1781C>A (n.1781C>A) c.576C>A c.1444C>A c.3904C>A (p.Pro1302Thr) c.120C>A c.4084C>A (p.Pro1362Thr) c.3751C>A (p.Pro1251Thr) | |
| 7 | g.117664718C>G | CA368982047 | CFTR | c.*203C>G (n.*203C>G) c.*3708C>G (n.*3708C>G) c.3811C>G (p.Pro1271Ala) c.*207C>G (n.*207C>G) c.*647C>G (n.*647C>G) c.3994C>G (p.Pro1332Ala) c.*655C>G (n.*655C>G) c.*2369C>G (n.*2369C>G) c.3988C>G (p.Pro1330Ala) c.*3818C>G (n.*3818C>G) c.3568C>G (p.Pro1190Ala) n.2162C>G c.858C>G (n.858C>G) c.1781C>G (n.1781C>G) c.576C>G c.1444C>G c.3904C>G (p.Pro1302Ala) c.120C>G c.4084C>G (p.Pro1362Ala) c.3751C>G (p.Pro1251Ala) | |
| 7 | g.117664718C>T | CA368982048 | CFTR | c.*203C>T (n.*203C>T) c.*3708C>T (n.*3708C>T) c.3811C>T (p.Pro1271Ser) c.*207C>T (n.*207C>T) c.*647C>T (n.*647C>T) c.3994C>T (p.Pro1332Ser) c.*655C>T (n.*655C>T) c.*2369C>T (n.*2369C>T) c.3988C>T (p.Pro1330Ser) c.*3818C>T (n.*3818C>T) c.3568C>T (p.Pro1190Ser) n.2162C>T c.858C>T (n.858C>T) c.1781C>T (n.1781C>T) c.576C>T c.1444C>T c.3904C>T (p.Pro1302Ser) c.120C>T c.4084C>T (p.Pro1362Ser) c.3751C>T (p.Pro1251Ser) | gnomAD v4 COSMIC |
| 7 | g.117664719C>A | CA368982050 | CFTR | c.*204C>A (n.*204C>A) c.*3709C>A (n.*3709C>A) c.3812C>A (p.Pro1271His) c.*208C>A (n.*208C>A) c.*648C>A (n.*648C>A) c.3995C>A (p.Pro1332His) c.*656C>A (n.*656C>A) c.*2370C>A (n.*2370C>A) c.3989C>A (p.Pro1330His) c.*3819C>A (n.*3819C>A) c.3569C>A (p.Pro1190His) n.2163C>A c.859C>A (n.859C>A) c.1782C>A (n.1782C>A) c.577C>A c.1445C>A c.3905C>A (p.Pro1302His) c.121C>A c.4085C>A (p.Pro1362His) c.3752C>A (p.Pro1251His) | |
| 7 | g.117664719C>G | CA368982057 | CFTR | c.*204C>G (n.*204C>G) c.*3709C>G (n.*3709C>G) c.3812C>G (p.Pro1271Arg) c.*208C>G (n.*208C>G) c.*648C>G (n.*648C>G) c.3995C>G (p.Pro1332Arg) c.*656C>G (n.*656C>G) c.*2370C>G (n.*2370C>G) c.3989C>G (p.Pro1330Arg) c.*3819C>G (n.*3819C>G) c.3569C>G (p.Pro1190Arg) n.2163C>G c.859C>G (n.859C>G) c.1782C>G (n.1782C>G) c.577C>G c.1445C>G c.3905C>G (p.Pro1302Arg) c.121C>G c.4085C>G (p.Pro1362Arg) c.3752C>G (p.Pro1251Arg) | |
| 7 | g.117664719C>T | CA368982054 | CFTR | c.*204C>T (n.*204C>T) c.*3709C>T (n.*3709C>T) c.3812C>T (p.Pro1271Leu) c.*208C>T (n.*208C>T) c.*648C>T (n.*648C>T) c.3995C>T (p.Pro1332Leu) c.*656C>T (n.*656C>T) c.*2370C>T (n.*2370C>T) c.3989C>T (p.Pro1330Leu) c.*3819C>T (n.*3819C>T) c.3569C>T (p.Pro1190Leu) n.2163C>T c.859C>T (n.859C>T) c.1782C>T (n.1782C>T) c.577C>T c.1445C>T c.3905C>T (p.Pro1302Leu) c.121C>T c.4085C>T (p.Pro1362Leu) c.3752C>T (p.Pro1251Leu) | |
| 7 | g.117664720T>A | CA457230275 | CFTR | c.*205T>A (n.*205T>A) c.*3710T>A (n.*3710T>A) c.3813T>A (p.Pro1271=) c.*209T>A (n.*209T>A) c.*649T>A (n.*649T>A) c.3996T>A (p.Pro1332=) c.*657T>A (n.*657T>A) c.*2371T>A (n.*2371T>A) c.3990T>A (p.Pro1330=) c.*3820T>A (n.*3820T>A) c.3570T>A (p.Pro1190=) n.2164T>A c.860T>A (n.860T>A) c.1783T>A (n.1783T>A) c.578T>A c.1446T>A c.3906T>A (p.Pro1302=) c.122T>A c.4086T>A (p.Pro1362=) c.3753T>A (p.Pro1251=) | |
| 7 | g.117664720T>C | CA457230274 | CFTR | c.*205T>C (n.*205T>C) c.*3710T>C (n.*3710T>C) c.3813T>C (p.Pro1271=) c.*209T>C (n.*209T>C) c.*649T>C (n.*649T>C) c.3996T>C (p.Pro1332=) c.*657T>C (n.*657T>C) c.*2371T>C (n.*2371T>C) c.3990T>C (p.Pro1330=) c.*3820T>C (n.*3820T>C) c.3570T>C (p.Pro1190=) n.2164T>C c.860T>C (n.860T>C) c.1783T>C (n.1783T>C) c.578T>C c.1446T>C c.3906T>C (p.Pro1302=) c.122T>C c.4086T>C (p.Pro1362=) c.3753T>C (p.Pro1251=) | ClinVar dbSNP |
| 7 | g.117664720T>G | CA457230273 | CFTR | c.*205T>G (n.*205T>G) c.*3710T>G (n.*3710T>G) c.3813T>G (p.Pro1271=) c.*209T>G (n.*209T>G) c.*649T>G (n.*649T>G) c.3996T>G (p.Pro1332=) c.*657T>G (n.*657T>G) c.*2371T>G (n.*2371T>G) c.3990T>G (p.Pro1330=) c.*3820T>G (n.*3820T>G) c.3570T>G (p.Pro1190=) n.2164T>G c.860T>G (n.860T>G) c.1783T>G (n.1783T>G) c.578T>G c.1446T>G c.3906T>G (p.Pro1302=) c.122T>G c.4086T>G (p.Pro1362=) c.3753T>G (p.Pro1251=) | |
| 7 | g.117664720_117664721delinsTG | CA1737421810 | CFTR | c.*205_*206delinsTG (n.*205_*206delinsTG) c.*3710_*3711delinsTG (n.*3710_*3711delinsTG) c.3813_3814delinsTG (p.Pro1271=) c.*209_*210delinsTG (n.*209_*210delinsTG) c.*649_*650delinsTG (n.*649_*650delinsTG) c.3996_3997delinsTG (p.Pro1332=) c.*657_*658delinsTG (n.*657_*658delinsTG) c.*2371_*2372delinsTG (n.*2371_*2372delinsTG) c.3990_3991delinsTG (p.Pro1330=) c.*3820_*3821delinsTG (n.*3820_*3821delinsTG) c.3570_3571delinsTG (p.Pro1190=) n.2164_2165delinsTG c.860_861delinsTG (n.860_861delinsTG) c.1783_1784delinsTG (n.1783_1784delinsTG) c.578_579delinsTG c.1446_1447delinsTG c.3906_3907delinsTG (p.Pro1302=) c.122_123delinsTG c.4086_4087delinsTG (p.Pro1362=) c.3753_3754delinsTG (p.Pro1251=) | |
| 7 | g.117664721G>A | CA368982062 | CFTR | c.*206G>A (n.*206G>A) c.*3711G>A (n.*3711G>A) c.3814G>A (p.Gly1272Arg) c.*210G>A (n.*210G>A) c.*650G>A (n.*650G>A) c.3997G>A (p.Gly1333Arg) c.*658G>A (n.*658G>A) c.*2372G>A (n.*2372G>A) c.3991G>A (p.Gly1331Arg) c.*3821G>A (n.*3821G>A) c.3571G>A (p.Gly1191Arg) n.2165G>A c.861G>A (n.861G>A) c.1784G>A (n.1784G>A) c.579G>A c.1447G>A c.3907G>A (p.Gly1303Arg) c.123G>A c.4087G>A (p.Gly1363Arg) c.3754G>A (p.Gly1252Arg) | dbSNP |
| 7 | g.117664721G>C | CA368982066 | CFTR | c.*206G>C (n.*206G>C) c.*3711G>C (n.*3711G>C) c.3814G>C (p.Gly1272Arg) c.*210G>C (n.*210G>C) c.*650G>C (n.*650G>C) c.3997G>C (p.Gly1333Arg) c.*658G>C (n.*658G>C) c.*2372G>C (n.*2372G>C) c.3991G>C (p.Gly1331Arg) c.*3821G>C (n.*3821G>C) c.3571G>C (p.Gly1191Arg) n.2165G>C c.861G>C (n.861G>C) c.1784G>C (n.1784G>C) c.579G>C c.1447G>C c.3907G>C (p.Gly1303Arg) c.123G>C c.4087G>C (p.Gly1363Arg) c.3754G>C (p.Gly1252Arg) | |
| 7 | g.117664721G= | CA1737421817 | CFTR | c.*206G= (n.*206G=) c.*3711G= (n.*3711G=) c.3814G= (p.Gly1272=) c.*210G= (n.*210G=) c.*650G= (n.*650G=) c.3997G= (p.Gly1333=) c.*658G= (n.*658G=) c.*2372G= (n.*2372G=) c.3991G= (p.Gly1331=) c.*3821G= (n.*3821G=) c.3571G= (p.Gly1191=) n.2165G= c.861G= (n.861G=) c.1784G= (n.1784G=) c.579G= c.1447G= c.3907G= (p.Gly1303=) c.123G= c.4087G= (p.Gly1363=) c.3754G= (p.Gly1252=) | |
| 7 | g.117664721G>T | CA260246 | CFTR | c.*206G>T (n.*206G>T) c.*3711G>T (n.*3711G>T) c.3814G>T (p.Gly1272Trp) c.*210G>T (n.*210G>T) c.*650G>T (n.*650G>T) c.3997G>T (p.Gly1333Trp) c.*658G>T (n.*658G>T) c.*2372G>T (n.*2372G>T) c.3991G>T (p.Gly1331Trp) c.*3821G>T (n.*3821G>T) c.3571G>T (p.Gly1191Trp) n.2165G>T c.861G>T (n.861G>T) c.1784G>T (n.1784G>T) c.579G>T c.1447G>T c.3907G>T (p.Gly1303Trp) c.123G>T c.4087G>T (p.Gly1363Trp) c.3754G>T (p.Gly1252Trp) | ClinVar dbSNP |
| 7 | g.117664723del | CA10604357 | CFTR | c.*208del (n.*208del) c.*3713del (n.*3713del) c.3816del (p.Lys1273SerfsTer13) c.*212del (n.*212del) c.*652del (n.*652del) c.3999del (p.Lys1334SerfsTer13) c.*660del (n.*660del) c.*2374del (n.*2374del) c.3993del (p.Lys1332SerfsTer13) c.*3823del (n.*3823del) c.3573del (p.Lys1192SerfsTer13) n.2167del c.863del (n.863del) c.1786del (n.1786del) c.581del c.1449del c.3909del (p.Lys1304SerfsTer13) c.125del c.4089del (p.Lys1364SerfsTer13) c.3756del (p.Lys1253SerfsTer13) | ClinVar dbSNP |
| 7 | g.117664722G>A | CA368982075 | CFTR | c.*207G>A (n.*207G>A) c.*3712G>A (n.*3712G>A) c.3815G>A (p.Gly1272Glu) c.*211G>A (n.*211G>A) c.*651G>A (n.*651G>A) c.3998G>A (p.Gly1333Glu) c.*659G>A (n.*659G>A) c.*2373G>A (n.*2373G>A) c.3992G>A (p.Gly1331Glu) c.*3822G>A (n.*3822G>A) c.3572G>A (p.Gly1191Glu) n.2166G>A c.862G>A (n.862G>A) c.1785G>A (n.1785G>A) c.580G>A c.1448G>A c.3908G>A (p.Gly1303Glu) c.124G>A c.4088G>A (p.Gly1363Glu) c.3755G>A (p.Gly1252Glu) | |
| 7 | g.117664722G>C | CA368982080 | CFTR | c.*207G>C (n.*207G>C) c.*3712G>C (n.*3712G>C) c.3815G>C (p.Gly1272Ala) c.*211G>C (n.*211G>C) c.*651G>C (n.*651G>C) c.3998G>C (p.Gly1333Ala) c.*659G>C (n.*659G>C) c.*2373G>C (n.*2373G>C) c.3992G>C (p.Gly1331Ala) c.*3822G>C (n.*3822G>C) c.3572G>C (p.Gly1191Ala) n.2166G>C c.862G>C (n.862G>C) c.1785G>C (n.1785G>C) c.580G>C c.1448G>C c.3908G>C (p.Gly1303Ala) c.124G>C c.4088G>C (p.Gly1363Ala) c.3755G>C (p.Gly1252Ala) | |
| 7 | g.117664722G>T | CA368982084 | CFTR | c.*207G>T (n.*207G>T) c.*3712G>T (n.*3712G>T) c.3815G>T (p.Gly1272Val) c.*211G>T (n.*211G>T) c.*651G>T (n.*651G>T) c.3998G>T (p.Gly1333Val) c.*659G>T (n.*659G>T) c.*2373G>T (n.*2373G>T) c.3992G>T (p.Gly1331Val) c.*3822G>T (n.*3822G>T) c.3572G>T (p.Gly1191Val) n.2166G>T c.862G>T (n.862G>T) c.1785G>T (n.1785G>T) c.580G>T c.1448G>T c.3908G>T (p.Gly1303Val) c.124G>T c.4088G>T (p.Gly1363Val) c.3755G>T (p.Gly1252Val) |