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.117665524A= | CA1737422945 | CFTR | c.*411A= (n.*411A=) c.*3916A= (n.*3916A=) c.4019A= (p.Glu1340=) c.*415A= (n.*415A=) c.*855A= (n.*855A=) c.4202A= (p.Glu1401=) c.*863A= (n.*863A=) c.*2577A= (n.*2577A=) c.4196A= (p.Glu1399=) c.*4026A= (n.*4026A=) c.3776A= (p.Glu1259=) n.2370A= c.1066A= (n.1066A=) c.1989A= (n.1989A=) c.784A= c.1652A= c.4112A= (p.Glu1371=) c.328A= c.4292A= (p.Glu1431=) c.3959A= (p.Glu1320=) | |
| 7 | g.117665524A>C | CA327451 | CFTR | c.*411A>C (n.*411A>C) c.*3916A>C (n.*3916A>C) c.4019A>C (p.Glu1340Ala) c.*415A>C (n.*415A>C) c.*855A>C (n.*855A>C) c.4202A>C (p.Glu1401Ala) c.*863A>C (n.*863A>C) c.*2577A>C (n.*2577A>C) c.4196A>C (p.Glu1399Ala) c.*4026A>C (n.*4026A>C) c.3776A>C (p.Glu1259Ala) n.2370A>C c.1066A>C (n.1066A>C) c.1989A>C (n.1989A>C) c.784A>C c.1652A>C c.4112A>C (p.Glu1371Ala) c.328A>C c.4292A>C (p.Glu1431Ala) c.3959A>C (p.Glu1320Ala) | dbSNP |
| 7 | g.117665524A>G | CA327453 | CFTR | c.*411A>G (n.*411A>G) c.*3916A>G (n.*3916A>G) c.4019A>G (p.Glu1340Gly) c.*415A>G (n.*415A>G) c.*855A>G (n.*855A>G) c.4202A>G (p.Glu1401Gly) c.*863A>G (n.*863A>G) c.*2577A>G (n.*2577A>G) c.4196A>G (p.Glu1399Gly) c.*4026A>G (n.*4026A>G) c.3776A>G (p.Glu1259Gly) n.2370A>G c.1066A>G (n.1066A>G) c.1989A>G (n.1989A>G) c.784A>G c.1652A>G c.4112A>G (p.Glu1371Gly) c.328A>G c.4292A>G (p.Glu1431Gly) c.3959A>G (p.Glu1320Gly) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117665524A>T | CA368983663 | CFTR | c.*411A>T (n.*411A>T) c.*3916A>T (n.*3916A>T) c.4019A>T (p.Glu1340Val) c.*415A>T (n.*415A>T) c.*855A>T (n.*855A>T) c.4202A>T (p.Glu1401Val) c.*863A>T (n.*863A>T) c.*2577A>T (n.*2577A>T) c.4196A>T (p.Glu1399Val) c.*4026A>T (n.*4026A>T) c.3776A>T (p.Glu1259Val) n.2370A>T c.1066A>T (n.1066A>T) c.1989A>T (n.1989A>T) c.784A>T c.1652A>T c.4112A>T (p.Glu1371Val) c.328A>T c.4292A>T (p.Glu1431Val) c.3959A>T (p.Glu1320Val) | |
| 7 | g.117665525A>C | CA368983666 | CFTR | c.*412A>C (n.*412A>C) c.*3917A>C (n.*3917A>C) c.4020A>C (p.Glu1340Asp) c.*416A>C (n.*416A>C) c.*856A>C (n.*856A>C) c.4203A>C (p.Glu1401Asp) c.*864A>C (n.*864A>C) c.*2578A>C (n.*2578A>C) c.4197A>C (p.Glu1399Asp) c.*4027A>C (n.*4027A>C) c.3777A>C (p.Glu1259Asp) n.2371A>C c.1067A>C (n.1067A>C) c.1990A>C (n.1990A>C) c.785A>C c.1653A>C c.4113A>C (p.Glu1371Asp) c.329A>C c.4293A>C (p.Glu1431Asp) c.3960A>C (p.Glu1320Asp) | |
| 7 | g.117665525A>G | CA457230886 | CFTR | c.*412A>G (n.*412A>G) c.*3917A>G (n.*3917A>G) c.4020A>G (p.Glu1340=) c.*416A>G (n.*416A>G) c.*856A>G (n.*856A>G) c.4203A>G (p.Glu1401=) c.*864A>G (n.*864A>G) c.*2578A>G (n.*2578A>G) c.4197A>G (p.Glu1399=) c.*4027A>G (n.*4027A>G) c.3777A>G (p.Glu1259=) n.2371A>G c.1067A>G (n.1067A>G) c.1990A>G (n.1990A>G) c.785A>G c.1653A>G c.4113A>G (p.Glu1371=) c.329A>G c.4293A>G (p.Glu1431=) c.3960A>G (p.Glu1320=) | |
| 7 | g.117665525A>T | CA368983669 | CFTR | c.*412A>T (n.*412A>T) c.*3917A>T (n.*3917A>T) c.4020A>T (p.Glu1340Asp) c.*416A>T (n.*416A>T) c.*856A>T (n.*856A>T) c.4203A>T (p.Glu1401Asp) c.*864A>T (n.*864A>T) c.*2578A>T (n.*2578A>T) c.4197A>T (p.Glu1399Asp) c.*4027A>T (n.*4027A>T) c.3777A>T (p.Glu1259Asp) n.2371A>T c.1067A>T (n.1067A>T) c.1990A>T (n.1990A>T) c.785A>T c.1653A>T c.4113A>T (p.Glu1371Asp) c.329A>T c.4293A>T (p.Glu1431Asp) c.3960A>T (p.Glu1320Asp) | |
| 7 | g.117665526C>A | CA368983672 | CFTR | c.*413C>A (n.*413C>A) c.*3918C>A (n.*3918C>A) c.4021C>A (p.His1341Asn) c.*417C>A (n.*417C>A) c.*857C>A (n.*857C>A) c.4204C>A (p.His1402Asn) c.*865C>A (n.*865C>A) c.*2579C>A (n.*2579C>A) c.4198C>A (p.His1400Asn) c.*4028C>A (n.*4028C>A) c.3778C>A (p.His1260Asn) n.2372C>A c.1068C>A (n.1068C>A) c.1991C>A (n.1991C>A) c.786C>A c.1654C>A c.4114C>A (p.His1372Asn) c.330C>A c.4294C>A (p.His1432Asn) c.3961C>A (p.His1321Asn) | |
| 7 | g.117665526C>G | CA368983677 | CFTR | c.*413C>G (n.*413C>G) c.*3918C>G (n.*3918C>G) c.4021C>G (p.His1341Asp) c.*417C>G (n.*417C>G) c.*857C>G (n.*857C>G) c.4204C>G (p.His1402Asp) c.*865C>G (n.*865C>G) c.*2579C>G (n.*2579C>G) c.4198C>G (p.His1400Asp) c.*4028C>G (n.*4028C>G) c.3778C>G (p.His1260Asp) n.2372C>G c.1068C>G (n.1068C>G) c.1991C>G (n.1991C>G) c.786C>G c.1654C>G c.4114C>G (p.His1372Asp) c.330C>G c.4294C>G (p.His1432Asp) c.3961C>G (p.His1321Asp) | |
| 7 | g.117665526C>T | CA368983675 | CFTR | c.*413C>T (n.*413C>T) c.*3918C>T (n.*3918C>T) c.4021C>T (p.His1341Tyr) c.*417C>T (n.*417C>T) c.*857C>T (n.*857C>T) c.4204C>T (p.His1402Tyr) c.*865C>T (n.*865C>T) c.*2579C>T (n.*2579C>T) c.4198C>T (p.His1400Tyr) c.*4028C>T (n.*4028C>T) c.3778C>T (p.His1260Tyr) n.2372C>T c.1068C>T (n.1068C>T) c.1991C>T (n.1991C>T) c.786C>T c.1654C>T c.4114C>T (p.His1372Tyr) c.330C>T c.4294C>T (p.His1432Tyr) c.3961C>T (p.His1321Tyr) | |
| 7 | g.117665527A>C | CA368983678 | CFTR | c.*414A>C (n.*414A>C) c.*3919A>C (n.*3919A>C) c.4022A>C (p.His1341Pro) c.*418A>C (n.*418A>C) c.*858A>C (n.*858A>C) c.4205A>C (p.His1402Pro) c.*866A>C (n.*866A>C) c.*2580A>C (n.*2580A>C) c.4199A>C (p.His1400Pro) c.*4029A>C (n.*4029A>C) c.3779A>C (p.His1260Pro) n.2373A>C c.1069A>C (n.1069A>C) c.1992A>C (n.1992A>C) c.787A>C c.1655A>C c.4115A>C (p.His1372Pro) c.331A>C c.4295A>C (p.His1432Pro) c.3962A>C (p.His1321Pro) | |
| 7 | g.117665527A>G | CA368983679 | CFTR | c.*414A>G (n.*414A>G) c.*3919A>G (n.*3919A>G) c.4022A>G (p.His1341Arg) c.*418A>G (n.*418A>G) c.*858A>G (n.*858A>G) c.4205A>G (p.His1402Arg) c.*866A>G (n.*866A>G) c.*2580A>G (n.*2580A>G) c.4199A>G (p.His1400Arg) c.*4029A>G (n.*4029A>G) c.3779A>G (p.His1260Arg) n.2373A>G c.1069A>G (n.1069A>G) c.1992A>G (n.1992A>G) c.787A>G c.1655A>G c.4115A>G (p.His1372Arg) c.331A>G c.4295A>G (p.His1432Arg) c.3962A>G (p.His1321Arg) | ClinVar |
| 7 | g.117665527A>T | CA368983680 | CFTR | c.*414A>T (n.*414A>T) c.*3919A>T (n.*3919A>T) c.4022A>T (p.His1341Leu) c.*418A>T (n.*418A>T) c.*858A>T (n.*858A>T) c.4205A>T (p.His1402Leu) c.*866A>T (n.*866A>T) c.*2580A>T (n.*2580A>T) c.4199A>T (p.His1400Leu) c.*4029A>T (n.*4029A>T) c.3779A>T (p.His1260Leu) n.2373A>T c.1069A>T (n.1069A>T) c.1992A>T (n.1992A>T) c.787A>T c.1655A>T c.4115A>T (p.His1372Leu) c.331A>T c.4295A>T (p.His1432Leu) c.3962A>T (p.His1321Leu) | |
| 7 | g.117665528C>A | CA368983683 | CFTR | c.*415C>A (n.*415C>A) c.*3920C>A (n.*3920C>A) c.4023C>A (p.His1341Gln) c.*419C>A (n.*419C>A) c.*859C>A (n.*859C>A) c.4206C>A (p.His1402Gln) c.*867C>A (n.*867C>A) c.*2581C>A (n.*2581C>A) c.4200C>A (p.His1400Gln) c.*4030C>A (n.*4030C>A) c.3780C>A (p.His1260Gln) n.2374C>A c.1070C>A (n.1070C>A) c.1993C>A (n.1993C>A) c.788C>A c.1656C>A c.4116C>A (p.His1372Gln) c.332C>A c.4296C>A (p.His1432Gln) c.3963C>A (p.His1321Gln) | gnomAD v4 |
| 7 | g.117665528C= | CA1737422949 | CFTR | c.*415C= (n.*415C=) c.*3920C= (n.*3920C=) c.4023C= (p.His1341=) c.*419C= (n.*419C=) c.*859C= (n.*859C=) c.4206C= (p.His1402=) c.*867C= (n.*867C=) c.*2581C= (n.*2581C=) c.4200C= (p.His1400=) c.*4030C= (n.*4030C=) c.3780C= (p.His1260=) n.2374C= c.1070C= (n.1070C=) c.1993C= (n.1993C=) c.788C= c.1656C= c.4116C= (p.His1372=) c.332C= c.4296C= (p.His1432=) c.3963C= (p.His1321=) | |
| 7 | g.117665528C>G | CA368983685 | CFTR | c.*415C>G (n.*415C>G) c.*3920C>G (n.*3920C>G) c.4023C>G (p.His1341Gln) c.*419C>G (n.*419C>G) c.*859C>G (n.*859C>G) c.4206C>G (p.His1402Gln) c.*867C>G (n.*867C>G) c.*2581C>G (n.*2581C>G) c.4200C>G (p.His1400Gln) c.*4030C>G (n.*4030C>G) c.3780C>G (p.His1260Gln) n.2374C>G c.1070C>G (n.1070C>G) c.1993C>G (n.1993C>G) c.788C>G c.1656C>G c.4116C>G (p.His1372Gln) c.332C>G c.4296C>G (p.His1432Gln) c.3963C>G (p.His1321Gln) | |
| 7 | g.117665528C>T | CA4451661 | CFTR | c.*415C>T (n.*415C>T) c.*3920C>T (n.*3920C>T) c.4023C>T (p.His1341=) c.*419C>T (n.*419C>T) c.*859C>T (n.*859C>T) c.4206C>T (p.His1402=) c.*867C>T (n.*867C>T) c.*2581C>T (n.*2581C>T) c.4200C>T (p.His1400=) c.*4030C>T (n.*4030C>T) c.3780C>T (p.His1260=) n.2374C>T c.1070C>T (n.1070C>T) c.1993C>T (n.1993C>T) c.788C>T c.1656C>T c.4116C>T (p.His1372=) c.332C>T c.4296C>T (p.His1432=) c.3963C>T (p.His1321=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117665529A= | CA1737422954 | CFTR | c.*416A= (n.*416A=) c.*3921A= (n.*3921A=) c.4024A= (p.Arg1342=) c.*420A= (n.*420A=) c.*860A= (n.*860A=) c.4207A= (p.Arg1403=) c.*868A= (n.*868A=) c.*2582A= (n.*2582A=) c.4201A= (p.Arg1401=) c.*4031A= (n.*4031A=) c.3781A= (p.Arg1261=) n.2375A= c.1071A= (n.1071A=) c.1994A= (n.1994A=) c.789A= c.1657A= c.4117A= (p.Arg1373=) c.333A= c.4297A= (p.Arg1433=) c.3964A= (p.Arg1322=) | |
| 7 | g.117665529A>C | CA457230892 | CFTR | c.*416A>C (n.*416A>C) c.*3921A>C (n.*3921A>C) c.4024A>C (p.Arg1342=) c.*420A>C (n.*420A>C) c.*860A>C (n.*860A>C) c.4207A>C (p.Arg1403=) c.*868A>C (n.*868A>C) c.*2582A>C (n.*2582A>C) c.4201A>C (p.Arg1401=) c.*4031A>C (n.*4031A>C) c.3781A>C (p.Arg1261=) n.2375A>C c.1071A>C (n.1071A>C) c.1994A>C (n.1994A>C) c.789A>C c.1657A>C c.4117A>C (p.Arg1373=) c.333A>C c.4297A>C (p.Arg1433=) c.3964A>C (p.Arg1322=) | |
| 7 | g.117665529A>G | CA368983688 | CFTR | c.*416A>G (n.*416A>G) c.*3921A>G (n.*3921A>G) c.4024A>G (p.Arg1342Gly) c.*420A>G (n.*420A>G) c.*860A>G (n.*860A>G) c.4207A>G (p.Arg1403Gly) c.*868A>G (n.*868A>G) c.*2582A>G (n.*2582A>G) c.4201A>G (p.Arg1401Gly) c.*4031A>G (n.*4031A>G) c.3781A>G (p.Arg1261Gly) n.2375A>G c.1071A>G (n.1071A>G) c.1994A>G (n.1994A>G) c.789A>G c.1657A>G c.4117A>G (p.Arg1373Gly) c.333A>G c.4297A>G (p.Arg1433Gly) c.3964A>G (p.Arg1322Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117665529A>T | CA164960716 | CFTR | c.*416A>T (n.*416A>T) c.*3921A>T (n.*3921A>T) c.4024A>T (p.Arg1342Trp) c.*420A>T (n.*420A>T) c.*860A>T (n.*860A>T) c.4207A>T (p.Arg1403Trp) c.*868A>T (n.*868A>T) c.*2582A>T (n.*2582A>T) c.4201A>T (p.Arg1401Trp) c.*4031A>T (n.*4031A>T) c.3781A>T (p.Arg1261Trp) n.2375A>T c.1071A>T (n.1071A>T) c.1994A>T (n.1994A>T) c.789A>T c.1657A>T c.4117A>T (p.Arg1373Trp) c.333A>T c.4297A>T (p.Arg1433Trp) c.3964A>T (p.Arg1322Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117665530G>A | CA4451662 | CFTR | c.*417G>A (n.*417G>A) c.*3922G>A (n.*3922G>A) c.4025G>A (p.Arg1342Lys) c.*421G>A (n.*421G>A) c.*861G>A (n.*861G>A) c.4208G>A (p.Arg1403Lys) c.*869G>A (n.*869G>A) c.*2583G>A (n.*2583G>A) c.4202G>A (p.Arg1401Lys) c.*4032G>A (n.*4032G>A) c.3782G>A (p.Arg1261Lys) n.2376G>A c.1072G>A (n.1072G>A) c.1995G>A (n.1995G>A) c.790G>A c.1658G>A c.4118G>A (p.Arg1373Lys) c.334G>A c.4298G>A (p.Arg1433Lys) c.3965G>A (p.Arg1322Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117665530G>C | CA368983696 | CFTR | c.*417G>C (n.*417G>C) c.*3922G>C (n.*3922G>C) c.4025G>C (p.Arg1342Thr) c.*421G>C (n.*421G>C) c.*861G>C (n.*861G>C) c.4208G>C (p.Arg1403Thr) c.*869G>C (n.*869G>C) c.*2583G>C (n.*2583G>C) c.4202G>C (p.Arg1401Thr) c.*4032G>C (n.*4032G>C) c.3782G>C (p.Arg1261Thr) n.2376G>C c.1072G>C (n.1072G>C) c.1995G>C (n.1995G>C) c.790G>C c.1658G>C c.4118G>C (p.Arg1373Thr) c.334G>C c.4298G>C (p.Arg1433Thr) c.3965G>C (p.Arg1322Thr) | |
| 7 | g.117665530G= | CA1737422959 | CFTR | c.*417G= (n.*417G=) c.*3922G= (n.*3922G=) c.4025G= (p.Arg1342=) c.*421G= (n.*421G=) c.*861G= (n.*861G=) c.4208G= (p.Arg1403=) c.*869G= (n.*869G=) c.*2583G= (n.*2583G=) c.4202G= (p.Arg1401=) c.*4032G= (n.*4032G=) c.3782G= (p.Arg1261=) n.2376G= c.1072G= (n.1072G=) c.1995G= (n.1995G=) c.790G= c.1658G= c.4118G= (p.Arg1373=) c.334G= c.4298G= (p.Arg1433=) c.3965G= (p.Arg1322=) | |
| 7 | g.117665530G>T | CA368983699 | CFTR | c.*417G>T (n.*417G>T) c.*3922G>T (n.*3922G>T) c.4025G>T (p.Arg1342Met) c.*421G>T (n.*421G>T) c.*861G>T (n.*861G>T) c.4208G>T (p.Arg1403Met) c.*869G>T (n.*869G>T) c.*2583G>T (n.*2583G>T) c.4202G>T (p.Arg1401Met) c.*4032G>T (n.*4032G>T) c.3782G>T (p.Arg1261Met) n.2376G>T c.1072G>T (n.1072G>T) c.1995G>T (n.1995G>T) c.790G>T c.1658G>T c.4118G>T (p.Arg1373Met) c.334G>T c.4298G>T (p.Arg1433Met) c.3965G>T (p.Arg1322Met) | gnomAD v4 |
| 7 | g.117665531G>A | CA457230896 | CFTR | c.*418G>A (n.*418G>A) c.*3923G>A (n.*3923G>A) c.4026G>A (p.Arg1342=) c.*422G>A (n.*422G>A) c.*862G>A (n.*862G>A) c.4209G>A (p.Arg1403=) c.*870G>A (n.*870G>A) c.*2584G>A (n.*2584G>A) c.4203G>A (p.Arg1401=) c.*4033G>A (n.*4033G>A) c.3783G>A (p.Arg1261=) n.2377G>A c.1073G>A (n.1073G>A) c.1996G>A (n.1996G>A) c.791G>A c.1659G>A c.4119G>A (p.Arg1373=) c.335G>A c.4299G>A (p.Arg1433=) c.3966G>A (p.Arg1322=) | gnomAD v4 |
| 7 | g.117665531G>C | CA368983702 | CFTR | c.*418G>C (n.*418G>C) c.*3923G>C (n.*3923G>C) c.4026G>C (p.Arg1342Ser) c.*422G>C (n.*422G>C) c.*862G>C (n.*862G>C) c.4209G>C (p.Arg1403Ser) c.*870G>C (n.*870G>C) c.*2584G>C (n.*2584G>C) c.4203G>C (p.Arg1401Ser) c.*4033G>C (n.*4033G>C) c.3783G>C (p.Arg1261Ser) n.2377G>C c.1073G>C (n.1073G>C) c.1996G>C (n.1996G>C) c.791G>C c.1659G>C c.4119G>C (p.Arg1373Ser) c.335G>C c.4299G>C (p.Arg1433Ser) c.3966G>C (p.Arg1322Ser) | |
| 7 | g.117665531G>T | CA368983703 | CFTR | c.*418G>T (n.*418G>T) c.*3923G>T (n.*3923G>T) c.4026G>T (p.Arg1342Ser) c.*422G>T (n.*422G>T) c.*862G>T (n.*862G>T) c.4209G>T (p.Arg1403Ser) c.*870G>T (n.*870G>T) c.*2584G>T (n.*2584G>T) c.4203G>T (p.Arg1401Ser) c.*4033G>T (n.*4033G>T) c.3783G>T (p.Arg1261Ser) n.2377G>T c.1073G>T (n.1073G>T) c.1996G>T (n.1996G>T) c.791G>T c.1659G>T c.4119G>T (p.Arg1373Ser) c.335G>T c.4299G>T (p.Arg1433Ser) c.3966G>T (p.Arg1322Ser) | ClinVar |
| 7 | g.117665532A= | CA1737422964 | CFTR | c.*419A= (n.*419A=) c.*3924A= (n.*3924A=) c.4027A= (p.Ile1343=) c.*423A= (n.*423A=) c.*863A= (n.*863A=) c.4210A= (p.Ile1404=) c.*871A= (n.*871A=) c.*2585A= (n.*2585A=) c.4204A= (p.Ile1402=) c.*4034A= (n.*4034A=) c.3784A= (p.Ile1262=) n.2378A= c.1074A= (n.1074A=) c.1997A= (n.1997A=) c.792A= c.1660A= c.4120A= (p.Ile1374=) c.336A= c.4300A= (p.Ile1434=) c.3967A= (p.Ile1323=) | |
| 7 | g.117665532A>C | CA368983710 | CFTR | c.*419A>C (n.*419A>C) c.*3924A>C (n.*3924A>C) c.4027A>C (p.Ile1343Leu) c.*423A>C (n.*423A>C) c.*863A>C (n.*863A>C) c.4210A>C (p.Ile1404Leu) c.*871A>C (n.*871A>C) c.*2585A>C (n.*2585A>C) c.4204A>C (p.Ile1402Leu) c.*4034A>C (n.*4034A>C) c.3784A>C (p.Ile1262Leu) n.2378A>C c.1074A>C (n.1074A>C) c.1997A>C (n.1997A>C) c.792A>C c.1660A>C c.4120A>C (p.Ile1374Leu) c.336A>C c.4300A>C (p.Ile1434Leu) c.3967A>C (p.Ile1323Leu) | |
| 7 | g.117665532A>G | CA368983705 | CFTR | c.*419A>G (n.*419A>G) c.*3924A>G (n.*3924A>G) c.4027A>G (p.Ile1343Val) c.*423A>G (n.*423A>G) c.*863A>G (n.*863A>G) c.4210A>G (p.Ile1404Val) c.*871A>G (n.*871A>G) c.*2585A>G (n.*2585A>G) c.4204A>G (p.Ile1402Val) c.*4034A>G (n.*4034A>G) c.3784A>G (p.Ile1262Val) n.2378A>G c.1074A>G (n.1074A>G) c.1997A>G (n.1997A>G) c.792A>G c.1660A>G c.4120A>G (p.Ile1374Val) c.336A>G c.4300A>G (p.Ile1434Val) c.3967A>G (p.Ile1323Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117665532A>T | CA368983708 | CFTR | c.*419A>T (n.*419A>T) c.*3924A>T (n.*3924A>T) c.4027A>T (p.Ile1343Leu) c.*423A>T (n.*423A>T) c.*863A>T (n.*863A>T) c.4210A>T (p.Ile1404Leu) c.*871A>T (n.*871A>T) c.*2585A>T (n.*2585A>T) c.4204A>T (p.Ile1402Leu) c.*4034A>T (n.*4034A>T) c.3784A>T (p.Ile1262Leu) n.2378A>T c.1074A>T (n.1074A>T) c.1997A>T (n.1997A>T) c.792A>T c.1660A>T c.4120A>T (p.Ile1374Leu) c.336A>T c.4300A>T (p.Ile1434Leu) c.3967A>T (p.Ile1323Leu) | |
| 7 | g.117665533T>A | CA368983713 | CFTR | c.*420T>A (n.*420T>A) c.*3925T>A (n.*3925T>A) c.4028T>A (p.Ile1343Lys) c.*424T>A (n.*424T>A) c.*864T>A (n.*864T>A) c.4211T>A (p.Ile1404Lys) c.*872T>A (n.*872T>A) c.*2586T>A (n.*2586T>A) c.4205T>A (p.Ile1402Lys) c.*4035T>A (n.*4035T>A) c.3785T>A (p.Ile1262Lys) n.2379T>A c.1075T>A (n.1075T>A) c.1998T>A (n.1998T>A) c.793T>A c.1661T>A c.4121T>A (p.Ile1374Lys) c.337T>A c.4301T>A (p.Ile1434Lys) c.3968T>A (p.Ile1323Lys) | gnomAD v4 |
| 7 | g.117665533T>C | CA368983716 | CFTR | c.*420T>C (n.*420T>C) c.*3925T>C (n.*3925T>C) c.4028T>C (p.Ile1343Thr) c.*424T>C (n.*424T>C) c.*864T>C (n.*864T>C) c.4211T>C (p.Ile1404Thr) c.*872T>C (n.*872T>C) c.*2586T>C (n.*2586T>C) c.4205T>C (p.Ile1402Thr) c.*4035T>C (n.*4035T>C) c.3785T>C (p.Ile1262Thr) n.2379T>C c.1075T>C (n.1075T>C) c.1998T>C (n.1998T>C) c.793T>C c.1661T>C c.4121T>C (p.Ile1374Thr) c.337T>C c.4301T>C (p.Ile1434Thr) c.3968T>C (p.Ile1323Thr) | gnomAD v4 |
| 7 | g.117665533T>G | CA368983718 | CFTR | c.*420T>G (n.*420T>G) c.*3925T>G (n.*3925T>G) c.4028T>G (p.Ile1343Arg) c.*424T>G (n.*424T>G) c.*864T>G (n.*864T>G) c.4211T>G (p.Ile1404Arg) c.*872T>G (n.*872T>G) c.*2586T>G (n.*2586T>G) c.4205T>G (p.Ile1402Arg) c.*4035T>G (n.*4035T>G) c.3785T>G (p.Ile1262Arg) n.2379T>G c.1075T>G (n.1075T>G) c.1998T>G (n.1998T>G) c.793T>G c.1661T>G c.4121T>G (p.Ile1374Arg) c.337T>G c.4301T>G (p.Ile1434Arg) c.3968T>G (p.Ile1323Arg) | |
| 7 | g.117665534A= | CA1737422969 | CFTR | c.*421A= (n.*421A=) c.*3926A= (n.*3926A=) c.4029A= (p.Ile1343=) c.*425A= (n.*425A=) c.*865A= (n.*865A=) c.4212A= (p.Ile1404=) c.*873A= (n.*873A=) c.*2587A= (n.*2587A=) c.4206A= (p.Ile1402=) c.*4036A= (n.*4036A=) c.3786A= (p.Ile1262=) n.2380A= c.1076A= (n.1076A=) c.1999A= (n.1999A=) c.794A= c.1662A= c.4122A= (p.Ile1374=) c.338A= c.4302A= (p.Ile1434=) c.3969A= (p.Ile1323=) | |
| 7 | g.117665534A>C | CA457230901 | CFTR | c.*421A>C (n.*421A>C) c.*3926A>C (n.*3926A>C) c.4029A>C (p.Ile1343=) c.*425A>C (n.*425A>C) c.*865A>C (n.*865A>C) c.4212A>C (p.Ile1404=) c.*873A>C (n.*873A>C) c.*2587A>C (n.*2587A>C) c.4206A>C (p.Ile1402=) c.*4036A>C (n.*4036A>C) c.3786A>C (p.Ile1262=) n.2380A>C c.1076A>C (n.1076A>C) c.1999A>C (n.1999A>C) c.794A>C c.1662A>C c.4122A>C (p.Ile1374=) c.338A>C c.4302A>C (p.Ile1434=) c.3969A>C (p.Ile1323=) | |
| 7 | g.117665534A>G | CA368983720 | CFTR | c.*421A>G (n.*421A>G) c.*3926A>G (n.*3926A>G) c.4029A>G (p.Ile1343Met) c.*425A>G (n.*425A>G) c.*865A>G (n.*865A>G) c.4212A>G (p.Ile1404Met) c.*873A>G (n.*873A>G) c.*2587A>G (n.*2587A>G) c.4206A>G (p.Ile1402Met) c.*4036A>G (n.*4036A>G) c.3786A>G (p.Ile1262Met) n.2380A>G c.1076A>G (n.1076A>G) c.1999A>G (n.1999A>G) c.794A>G c.1662A>G c.4122A>G (p.Ile1374Met) c.338A>G c.4302A>G (p.Ile1434Met) c.3969A>G (p.Ile1323Met) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117665534A>T | CA457230902 | CFTR | c.*421A>T (n.*421A>T) c.*3926A>T (n.*3926A>T) c.4029A>T (p.Ile1343=) c.*425A>T (n.*425A>T) c.*865A>T (n.*865A>T) c.4212A>T (p.Ile1404=) c.*873A>T (n.*873A>T) c.*2587A>T (n.*2587A>T) c.4206A>T (p.Ile1402=) c.*4036A>T (n.*4036A>T) c.3786A>T (p.Ile1262=) n.2380A>T c.1076A>T (n.1076A>T) c.1999A>T (n.1999A>T) c.794A>T c.1662A>T c.4122A>T (p.Ile1374=) c.338A>T c.4302A>T (p.Ile1434=) c.3969A>T (p.Ile1323=) | |
| 7 | g.117665535G>A | CA368983722 | CFTR | c.*422G>A (n.*422G>A) c.*3927G>A (n.*3927G>A) c.4030G>A (p.Glu1344Lys) c.*426G>A (n.*426G>A) c.*866G>A (n.*866G>A) c.4213G>A (p.Glu1405Lys) c.*874G>A (n.*874G>A) c.*2588G>A (n.*2588G>A) c.4207G>A (p.Glu1403Lys) c.*4037G>A (n.*4037G>A) c.3787G>A (p.Glu1263Lys) n.2381G>A c.1077G>A (n.1077G>A) c.2000G>A (n.2000G>A) c.795G>A c.1663G>A c.4123G>A (p.Glu1375Lys) c.339G>A c.4303G>A (p.Glu1435Lys) c.3970G>A (p.Glu1324Lys) | gnomAD v4 COSMIC |
| 7 | g.117665535G>C | CA368983724 | CFTR | c.*422G>C (n.*422G>C) c.*3927G>C (n.*3927G>C) c.4030G>C (p.Glu1344Gln) c.*426G>C (n.*426G>C) c.*866G>C (n.*866G>C) c.4213G>C (p.Glu1405Gln) c.*874G>C (n.*874G>C) c.*2588G>C (n.*2588G>C) c.4207G>C (p.Glu1403Gln) c.*4037G>C (n.*4037G>C) c.3787G>C (p.Glu1263Gln) n.2381G>C c.1077G>C (n.1077G>C) c.2000G>C (n.2000G>C) c.795G>C c.1663G>C c.4123G>C (p.Glu1375Gln) c.339G>C c.4303G>C (p.Glu1435Gln) c.3970G>C (p.Glu1324Gln) | |
| 7 | g.117665535G>T | CA368983726 | CFTR | c.*422G>T (n.*422G>T) c.*3927G>T (n.*3927G>T) c.4030G>T (p.Glu1344Ter) c.*426G>T (n.*426G>T) c.*866G>T (n.*866G>T) c.4213G>T (p.Glu1405Ter) c.*874G>T (n.*874G>T) c.*2588G>T (n.*2588G>T) c.4207G>T (p.Glu1403Ter) c.*4037G>T (n.*4037G>T) c.3787G>T (p.Glu1263Ter) n.2381G>T c.1077G>T (n.1077G>T) c.2000G>T (n.2000G>T) c.795G>T c.1663G>T c.4123G>T (p.Glu1375Ter) c.339G>T c.4303G>T (p.Glu1435Ter) c.3970G>T (p.Glu1324Ter) | |
| 7 | g.117665536A>C | CA368983728 | CFTR | c.*423A>C (n.*423A>C) c.*3928A>C (n.*3928A>C) c.4031A>C (p.Glu1344Ala) c.*427A>C (n.*427A>C) c.*867A>C (n.*867A>C) c.4214A>C (p.Glu1405Ala) c.*875A>C (n.*875A>C) c.*2589A>C (n.*2589A>C) c.4208A>C (p.Glu1403Ala) c.*4038A>C (n.*4038A>C) c.3788A>C (p.Glu1263Ala) n.2382A>C c.1078A>C (n.1078A>C) c.2001A>C (n.2001A>C) c.796A>C c.1664A>C c.4124A>C (p.Glu1375Ala) c.340A>C c.4304A>C (p.Glu1435Ala) c.3971A>C (p.Glu1324Ala) | |
| 7 | g.117665536A>G | CA368983730 | CFTR | c.*423A>G (n.*423A>G) c.*3928A>G (n.*3928A>G) c.4031A>G (p.Glu1344Gly) c.*427A>G (n.*427A>G) c.*867A>G (n.*867A>G) c.4214A>G (p.Glu1405Gly) c.*875A>G (n.*875A>G) c.*2589A>G (n.*2589A>G) c.4208A>G (p.Glu1403Gly) c.*4038A>G (n.*4038A>G) c.3788A>G (p.Glu1263Gly) n.2382A>G c.1078A>G (n.1078A>G) c.2001A>G (n.2001A>G) c.796A>G c.1664A>G c.4124A>G (p.Glu1375Gly) c.340A>G c.4304A>G (p.Glu1435Gly) c.3971A>G (p.Glu1324Gly) | |
| 7 | g.117665536A>T | CA368983734 | CFTR | c.*423A>T (n.*423A>T) c.*3928A>T (n.*3928A>T) c.4031A>T (p.Glu1344Val) c.*427A>T (n.*427A>T) c.*867A>T (n.*867A>T) c.4214A>T (p.Glu1405Val) c.*875A>T (n.*875A>T) c.*2589A>T (n.*2589A>T) c.4208A>T (p.Glu1403Val) c.*4038A>T (n.*4038A>T) c.3788A>T (p.Glu1263Val) n.2382A>T c.1078A>T (n.1078A>T) c.2001A>T (n.2001A>T) c.796A>T c.1664A>T c.4124A>T (p.Glu1375Val) c.340A>T c.4304A>T (p.Glu1435Val) c.3971A>T (p.Glu1324Val) |