WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.117664666_117664671del | CA2684649152 | CFTR | c.*173-22_*173-17del (n.*173-22_*173-17del) c.*3678-22_*3678-17del (n.*3678-22_*3678-17del) c.3781-22_3781-17del (n.3781-22_3781-17del) c.*177-22_*177-17del (n.*177-22_*177-17del) c.*617-22_*617-17del (n.*617-22_*617-17del) c.3964-22_3964-17del (n.3964-22_3964-17del) c.*625-22_*625-17del (n.*625-22_*625-17del) c.*2339-22_*2339-17del (n.*2339-22_*2339-17del) c.3958-22_3958-17del (n.3958-22_3958-17del) c.*3788-22_*3788-17del (n.*3788-22_*3788-17del) c.3538-22_3538-17del (n.3538-22_3538-17del) n.2132-22_2132-17del c.828-22_828-17del (n.828-22_828-17del) c.1751-22_1751-17del (n.1751-22_1751-17del) c.546-22_546-17del c.1414-22_1414-17del c.3874-22_3874-17del (n.3874-22_3874-17del) c.90-22_90-17del c.4054-22_4054-17del (n.4054-22_4054-17del) c.3721-22_3721-17del (n.3721-22_3721-17del) | gnomAD v4 |
| 7 | g.117664670del | CA2579000415 | CFTR | c.*173-18del (n.*173-18del) c.*3678-18del (n.*3678-18del) c.3781-18del (n.3781-18del) c.*177-18del (n.*177-18del) c.*617-18del (n.*617-18del) c.3964-18del (n.3964-18del) c.*625-18del (n.*625-18del) c.*2339-18del (n.*2339-18del) c.3958-18del (n.3958-18del) c.*3788-18del (n.*3788-18del) c.3538-18del (n.3538-18del) n.2132-18del c.828-18del (n.828-18del) c.1751-18del (n.1751-18del) c.546-18del c.1414-18del c.3874-18del (n.3874-18del) c.90-18del c.4054-18del (n.4054-18del) c.3721-18del (n.3721-18del) | ClinVar gnomAD v4 |
| 7 | g.117664670T>C | CA4451600 | CFTR | c.*173-18T>C (n.*173-18T>C) c.*3678-18T>C (n.*3678-18T>C) c.3781-18T>C (n.3781-18T>C) c.*177-18T>C (n.*177-18T>C) c.*617-18T>C (n.*617-18T>C) c.3964-18T>C (n.3964-18T>C) c.*625-18T>C (n.*625-18T>C) c.*2339-18T>C (n.*2339-18T>C) c.3958-18T>C (n.3958-18T>C) c.*3788-18T>C (n.*3788-18T>C) c.3538-18T>C (n.3538-18T>C) n.2132-18T>C c.828-18T>C (n.828-18T>C) c.1751-18T>C (n.1751-18T>C) c.546-18T>C c.1414-18T>C c.3874-18T>C (n.3874-18T>C) c.90-18T>C c.4054-18T>C (n.4054-18T>C) c.3721-18T>C (n.3721-18T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117664670T>G | CA4451601 | CFTR | c.*173-18T>G (n.*173-18T>G) c.*3678-18T>G (n.*3678-18T>G) c.3781-18T>G (n.3781-18T>G) c.*177-18T>G (n.*177-18T>G) c.*617-18T>G (n.*617-18T>G) c.3964-18T>G (n.3964-18T>G) c.*625-18T>G (n.*625-18T>G) c.*2339-18T>G (n.*2339-18T>G) c.3958-18T>G (n.3958-18T>G) c.*3788-18T>G (n.*3788-18T>G) c.3538-18T>G (n.3538-18T>G) n.2132-18T>G c.828-18T>G (n.828-18T>G) c.1751-18T>G (n.1751-18T>G) c.546-18T>G c.1414-18T>G c.3874-18T>G (n.3874-18T>G) c.90-18T>G c.4054-18T>G (n.4054-18T>G) c.3721-18T>G (n.3721-18T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117664670T= | CA1737421654 | CFTR | c.*173-18T= (n.*173-18T=) c.*3678-18T= (n.*3678-18T=) c.3781-18T= (n.3781-18T=) c.*177-18T= (n.*177-18T=) c.*617-18T= (n.*617-18T=) c.3964-18T= (n.3964-18T=) c.*625-18T= (n.*625-18T=) c.*2339-18T= (n.*2339-18T=) c.3958-18T= (n.3958-18T=) c.*3788-18T= (n.*3788-18T=) c.3538-18T= (n.3538-18T=) n.2132-18T= c.828-18T= (n.828-18T=) c.1751-18T= (n.1751-18T=) c.546-18T= c.1414-18T= c.3874-18T= (n.3874-18T=) c.90-18T= c.4054-18T= (n.4054-18T=) c.3721-18T= (n.3721-18T=) | |
| 7 | g.117664670_117664672delinsCAG | CA2580614243 | CFTR | c.*173-18_*173-16delinsCAG (n.*173-18_*173-16delinsCAG) c.*3678-18_*3678-16delinsCAG (n.*3678-18_*3678-16delinsCAG) c.3781-18_3781-16delinsCAG (n.3781-18_3781-16delinsCAG) c.*177-18_*177-16delinsCAG (n.*177-18_*177-16delinsCAG) c.*617-18_*617-16delinsCAG (n.*617-18_*617-16delinsCAG) c.3964-18_3964-16delinsCAG (n.3964-18_3964-16delinsCAG) c.*625-18_*625-16delinsCAG (n.*625-18_*625-16delinsCAG) c.*2339-18_*2339-16delinsCAG (n.*2339-18_*2339-16delinsCAG) c.3958-18_3958-16delinsCAG (n.3958-18_3958-16delinsCAG) c.*3788-18_*3788-16delinsCAG (n.*3788-18_*3788-16delinsCAG) c.3538-18_3538-16delinsCAG (n.3538-18_3538-16delinsCAG) n.2132-18_2132-16delinsCAG c.828-18_828-16delinsCAG (n.828-18_828-16delinsCAG) c.1751-18_1751-16delinsCAG (n.1751-18_1751-16delinsCAG) c.546-18_546-16delinsCAG c.1414-18_1414-16delinsCAG c.3874-18_3874-16delinsCAG (n.3874-18_3874-16delinsCAG) c.90-18_90-16delinsCAG c.4054-18_4054-16delinsCAG (n.4054-18_4054-16delinsCAG) c.3721-18_3721-16delinsCAG (n.3721-18_3721-16delinsCAG) | ClinVar |
| 7 | g.117664671A= | CA1737421656 | CFTR | c.*173-17A= (n.*173-17A=) c.*3678-17A= (n.*3678-17A=) c.3781-17A= (n.3781-17A=) c.*177-17A= (n.*177-17A=) c.*617-17A= (n.*617-17A=) c.3964-17A= (n.3964-17A=) c.*625-17A= (n.*625-17A=) c.*2339-17A= (n.*2339-17A=) c.3958-17A= (n.3958-17A=) c.*3788-17A= (n.*3788-17A=) c.3538-17A= (n.3538-17A=) n.2132-17A= c.828-17A= (n.828-17A=) c.1751-17A= (n.1751-17A=) c.546-17A= c.1414-17A= c.3874-17A= (n.3874-17A=) c.90-17A= c.4054-17A= (n.4054-17A=) c.3721-17A= (n.3721-17A=) | |
| 7 | g.117664671A>G | CA1737421657 | CFTR | c.*173-17A>G (n.*173-17A>G) c.*3678-17A>G (n.*3678-17A>G) c.3781-17A>G (n.3781-17A>G) c.*177-17A>G (n.*177-17A>G) c.*617-17A>G (n.*617-17A>G) c.3964-17A>G (n.3964-17A>G) c.*625-17A>G (n.*625-17A>G) c.*2339-17A>G (n.*2339-17A>G) c.3958-17A>G (n.3958-17A>G) c.*3788-17A>G (n.*3788-17A>G) c.3538-17A>G (n.3538-17A>G) n.2132-17A>G c.828-17A>G (n.828-17A>G) c.1751-17A>G (n.1751-17A>G) c.546-17A>G c.1414-17A>G c.3874-17A>G (n.3874-17A>G) c.90-17A>G c.4054-17A>G (n.4054-17A>G) c.3721-17A>G (n.3721-17A>G) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117664672T>C | CA242520 | CFTR | c.*173-16T>C (n.*173-16T>C) c.*3678-16T>C (n.*3678-16T>C) c.3781-16T>C (n.3781-16T>C) c.*177-16T>C (n.*177-16T>C) c.*617-16T>C (n.*617-16T>C) c.3964-16T>C (n.3964-16T>C) c.*625-16T>C (n.*625-16T>C) c.*2339-16T>C (n.*2339-16T>C) c.3958-16T>C (n.3958-16T>C) c.*3788-16T>C (n.*3788-16T>C) c.3538-16T>C (n.3538-16T>C) n.2132-16T>C c.828-16T>C (n.828-16T>C) c.1751-16T>C (n.1751-16T>C) c.546-16T>C c.1414-16T>C c.3874-16T>C (n.3874-16T>C) c.90-16T>C c.4054-16T>C (n.4054-16T>C) c.3721-16T>C (n.3721-16T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117664672T>G | CA4451602 | CFTR | c.*173-16T>G (n.*173-16T>G) c.*3678-16T>G (n.*3678-16T>G) c.3781-16T>G (n.3781-16T>G) c.*177-16T>G (n.*177-16T>G) c.*617-16T>G (n.*617-16T>G) c.3964-16T>G (n.3964-16T>G) c.*625-16T>G (n.*625-16T>G) c.*2339-16T>G (n.*2339-16T>G) c.3958-16T>G (n.3958-16T>G) c.*3788-16T>G (n.*3788-16T>G) c.3538-16T>G (n.3538-16T>G) n.2132-16T>G c.828-16T>G (n.828-16T>G) c.1751-16T>G (n.1751-16T>G) c.546-16T>G c.1414-16T>G c.3874-16T>G (n.3874-16T>G) c.90-16T>G c.4054-16T>G (n.4054-16T>G) c.3721-16T>G (n.3721-16T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117664672T= | CA1737421662 | CFTR | c.*173-16T= (n.*173-16T=) c.*3678-16T= (n.*3678-16T=) c.3781-16T= (n.3781-16T=) c.*177-16T= (n.*177-16T=) c.*617-16T= (n.*617-16T=) c.3964-16T= (n.3964-16T=) c.*625-16T= (n.*625-16T=) c.*2339-16T= (n.*2339-16T=) c.3958-16T= (n.3958-16T=) c.*3788-16T= (n.*3788-16T=) c.3538-16T= (n.3538-16T=) n.2132-16T= c.828-16T= (n.828-16T=) c.1751-16T= (n.1751-16T=) c.546-16T= c.1414-16T= c.3874-16T= (n.3874-16T=) c.90-16T= c.4054-16T= (n.4054-16T=) c.3721-16T= (n.3721-16T=) | |
| 7 | g.117664677T>C | CA832122004 | CFTR | c.*173-11T>C (n.*173-11T>C) c.*3678-11T>C (n.*3678-11T>C) c.3781-11T>C (n.3781-11T>C) c.*177-11T>C (n.*177-11T>C) c.*617-11T>C (n.*617-11T>C) c.3964-11T>C (n.3964-11T>C) c.*625-11T>C (n.*625-11T>C) c.*2339-11T>C (n.*2339-11T>C) c.3958-11T>C (n.3958-11T>C) c.*3788-11T>C (n.*3788-11T>C) c.3538-11T>C (n.3538-11T>C) n.2132-11T>C c.828-11T>C (n.828-11T>C) c.1751-11T>C (n.1751-11T>C) c.546-11T>C c.1414-11T>C c.3874-11T>C (n.3874-11T>C) c.90-11T>C c.4054-11T>C (n.4054-11T>C) c.3721-11T>C (n.3721-11T>C) | dbSNP gnomAD v4 |
| 7 | g.117664677T= | CA1737421668 | CFTR | c.*173-11T= (n.*173-11T=) c.*3678-11T= (n.*3678-11T=) c.3781-11T= (n.3781-11T=) c.*177-11T= (n.*177-11T=) c.*617-11T= (n.*617-11T=) c.3964-11T= (n.3964-11T=) c.*625-11T= (n.*625-11T=) c.*2339-11T= (n.*2339-11T=) c.3958-11T= (n.3958-11T=) c.*3788-11T= (n.*3788-11T=) c.3538-11T= (n.3538-11T=) n.2132-11T= c.828-11T= (n.828-11T=) c.1751-11T= (n.1751-11T=) c.546-11T= c.1414-11T= c.3874-11T= (n.3874-11T=) c.90-11T= c.4054-11T= (n.4054-11T=) c.3721-11T= (n.3721-11T=) | |
| 7 | g.117664678C= | CA1737421671 | CFTR | c.*173-10C= (n.*173-10C=) c.*3678-10C= (n.*3678-10C=) c.3781-10C= (n.3781-10C=) c.*177-10C= (n.*177-10C=) c.*617-10C= (n.*617-10C=) c.3964-10C= (n.3964-10C=) c.*625-10C= (n.*625-10C=) c.*2339-10C= (n.*2339-10C=) c.3958-10C= (n.3958-10C=) c.*3788-10C= (n.*3788-10C=) c.3538-10C= (n.3538-10C=) n.2132-10C= c.828-10C= (n.828-10C=) c.1751-10C= (n.1751-10C=) c.546-10C= c.1414-10C= c.3874-10C= (n.3874-10C=) c.90-10C= c.4054-10C= (n.4054-10C=) c.3721-10C= (n.3721-10C=) | |
| 7 | g.117664678C>G | CA2684649153 | CFTR | c.*173-10C>G (n.*173-10C>G) c.*3678-10C>G (n.*3678-10C>G) c.3781-10C>G (n.3781-10C>G) c.*177-10C>G (n.*177-10C>G) c.*617-10C>G (n.*617-10C>G) c.3964-10C>G (n.3964-10C>G) c.*625-10C>G (n.*625-10C>G) c.*2339-10C>G (n.*2339-10C>G) c.3958-10C>G (n.3958-10C>G) c.*3788-10C>G (n.*3788-10C>G) c.3538-10C>G (n.3538-10C>G) n.2132-10C>G c.828-10C>G (n.828-10C>G) c.1751-10C>G (n.1751-10C>G) c.546-10C>G c.1414-10C>G c.3874-10C>G (n.3874-10C>G) c.90-10C>G c.4054-10C>G (n.4054-10C>G) c.3721-10C>G (n.3721-10C>G) | gnomAD v4 |
| 7 | g.117664678C>T | CA577680852 | CFTR | c.*173-10C>T (n.*173-10C>T) c.*3678-10C>T (n.*3678-10C>T) c.3781-10C>T (n.3781-10C>T) c.*177-10C>T (n.*177-10C>T) c.*617-10C>T (n.*617-10C>T) c.3964-10C>T (n.3964-10C>T) c.*625-10C>T (n.*625-10C>T) c.*2339-10C>T (n.*2339-10C>T) c.3958-10C>T (n.3958-10C>T) c.*3788-10C>T (n.*3788-10C>T) c.3538-10C>T (n.3538-10C>T) n.2132-10C>T c.828-10C>T (n.828-10C>T) c.1751-10C>T (n.1751-10C>T) c.546-10C>T c.1414-10C>T c.3874-10C>T (n.3874-10C>T) c.90-10C>T c.4054-10C>T (n.4054-10C>T) c.3721-10C>T (n.3721-10C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117664679T>A | CA1737421675 | CFTR | c.*173-9T>A (n.*173-9T>A) c.*3678-9T>A (n.*3678-9T>A) c.3781-9T>A (n.3781-9T>A) c.*177-9T>A (n.*177-9T>A) c.*617-9T>A (n.*617-9T>A) c.3964-9T>A (n.3964-9T>A) c.*625-9T>A (n.*625-9T>A) c.*2339-9T>A (n.*2339-9T>A) c.3958-9T>A (n.3958-9T>A) c.*3788-9T>A (n.*3788-9T>A) c.3538-9T>A (n.3538-9T>A) n.2132-9T>A c.828-9T>A (n.828-9T>A) c.1751-9T>A (n.1751-9T>A) c.546-9T>A c.1414-9T>A c.3874-9T>A (n.3874-9T>A) c.90-9T>A c.4054-9T>A (n.4054-9T>A) c.3721-9T>A (n.3721-9T>A) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117664679T>C | CA2684649154 | CFTR | c.*173-9T>C (n.*173-9T>C) c.*3678-9T>C (n.*3678-9T>C) c.3781-9T>C (n.3781-9T>C) c.*177-9T>C (n.*177-9T>C) c.*617-9T>C (n.*617-9T>C) c.3964-9T>C (n.3964-9T>C) c.*625-9T>C (n.*625-9T>C) c.*2339-9T>C (n.*2339-9T>C) c.3958-9T>C (n.3958-9T>C) c.*3788-9T>C (n.*3788-9T>C) c.3538-9T>C (n.3538-9T>C) n.2132-9T>C c.828-9T>C (n.828-9T>C) c.1751-9T>C (n.1751-9T>C) c.546-9T>C c.1414-9T>C c.3874-9T>C (n.3874-9T>C) c.90-9T>C c.4054-9T>C (n.4054-9T>C) c.3721-9T>C (n.3721-9T>C) | ClinVar gnomAD v4 |
| 7 | g.117664679T= | CA1737421673 | CFTR | c.*173-9T= (n.*173-9T=) c.*3678-9T= (n.*3678-9T=) c.3781-9T= (n.3781-9T=) c.*177-9T= (n.*177-9T=) c.*617-9T= (n.*617-9T=) c.3964-9T= (n.3964-9T=) c.*625-9T= (n.*625-9T=) c.*2339-9T= (n.*2339-9T=) c.3958-9T= (n.3958-9T=) c.*3788-9T= (n.*3788-9T=) c.3538-9T= (n.3538-9T=) n.2132-9T= c.828-9T= (n.828-9T=) c.1751-9T= (n.1751-9T=) c.546-9T= c.1414-9T= c.3874-9T= (n.3874-9T=) c.90-9T= c.4054-9T= (n.4054-9T=) c.3721-9T= (n.3721-9T=) | |
| 7 | g.117664681A>G | CA2580076345 | CFTR | c.*173-7A>G (n.*173-7A>G) c.*3678-7A>G (n.*3678-7A>G) c.3781-7A>G (n.3781-7A>G) c.*177-7A>G (n.*177-7A>G) c.*617-7A>G (n.*617-7A>G) c.3964-7A>G (n.3964-7A>G) c.*625-7A>G (n.*625-7A>G) c.*2339-7A>G (n.*2339-7A>G) c.3958-7A>G (n.3958-7A>G) c.*3788-7A>G (n.*3788-7A>G) c.3538-7A>G (n.3538-7A>G) n.2132-7A>G c.828-7A>G (n.828-7A>G) c.1751-7A>G (n.1751-7A>G) c.546-7A>G c.1414-7A>G c.3874-7A>G (n.3874-7A>G) c.90-7A>G c.4054-7A>G (n.4054-7A>G) c.3721-7A>G (n.3721-7A>G) | ClinVar |
| 7 | g.117664681A>T | CA2499218700 | CFTR | c.*173-7A>T (n.*173-7A>T) c.*3678-7A>T (n.*3678-7A>T) c.3781-7A>T (n.3781-7A>T) c.*177-7A>T (n.*177-7A>T) c.*617-7A>T (n.*617-7A>T) c.3964-7A>T (n.3964-7A>T) c.*625-7A>T (n.*625-7A>T) c.*2339-7A>T (n.*2339-7A>T) c.3958-7A>T (n.3958-7A>T) c.*3788-7A>T (n.*3788-7A>T) c.3538-7A>T (n.3538-7A>T) n.2132-7A>T c.828-7A>T (n.828-7A>T) c.1751-7A>T (n.1751-7A>T) c.546-7A>T c.1414-7A>T c.3874-7A>T (n.3874-7A>T) c.90-7A>T c.4054-7A>T (n.4054-7A>T) c.3721-7A>T (n.3721-7A>T) | ClinVar dbSNP |
| 7 | g.117664682C= | CA1737421679 | CFTR | c.*173-6C= (n.*173-6C=) c.*3678-6C= (n.*3678-6C=) c.3781-6C= (n.3781-6C=) c.*177-6C= (n.*177-6C=) c.*617-6C= (n.*617-6C=) c.3964-6C= (n.3964-6C=) c.*625-6C= (n.*625-6C=) c.*2339-6C= (n.*2339-6C=) c.3958-6C= (n.3958-6C=) c.*3788-6C= (n.*3788-6C=) c.3538-6C= (n.3538-6C=) n.2132-6C= c.828-6C= (n.828-6C=) c.1751-6C= (n.1751-6C=) c.546-6C= c.1414-6C= c.3874-6C= (n.3874-6C=) c.90-6C= c.4054-6C= (n.4054-6C=) c.3721-6C= (n.3721-6C=) | |
| 7 | g.117664682C>T | CA577680853 | CFTR | c.*173-6C>T (n.*173-6C>T) c.*3678-6C>T (n.*3678-6C>T) c.3781-6C>T (n.3781-6C>T) c.*177-6C>T (n.*177-6C>T) c.*617-6C>T (n.*617-6C>T) c.3964-6C>T (n.3964-6C>T) c.*625-6C>T (n.*625-6C>T) c.*2339-6C>T (n.*2339-6C>T) c.3958-6C>T (n.3958-6C>T) c.*3788-6C>T (n.*3788-6C>T) c.3538-6C>T (n.3538-6C>T) n.2132-6C>T c.828-6C>T (n.828-6C>T) c.1751-6C>T (n.1751-6C>T) c.546-6C>T c.1414-6C>T c.3874-6C>T (n.3874-6C>T) c.90-6C>T c.4054-6C>T (n.4054-6C>T) c.3721-6C>T (n.3721-6C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117664683T>C | CA2684649155 | CFTR | c.*173-5T>C (n.*173-5T>C) c.*3678-5T>C (n.*3678-5T>C) c.3781-5T>C (n.3781-5T>C) c.*177-5T>C (n.*177-5T>C) c.*617-5T>C (n.*617-5T>C) c.3964-5T>C (n.3964-5T>C) c.*625-5T>C (n.*625-5T>C) c.*2339-5T>C (n.*2339-5T>C) c.3958-5T>C (n.3958-5T>C) c.*3788-5T>C (n.*3788-5T>C) c.3538-5T>C (n.3538-5T>C) n.2132-5T>C c.828-5T>C (n.828-5T>C) c.1751-5T>C (n.1751-5T>C) c.546-5T>C c.1414-5T>C c.3874-5T>C (n.3874-5T>C) c.90-5T>C c.4054-5T>C (n.4054-5T>C) c.3721-5T>C (n.3721-5T>C) | gnomAD v4 |
| 7 | g.117664685C>A | CA2580076349 | CFTR | c.*173-3C>A (n.*173-3C>A) c.*3678-3C>A (n.*3678-3C>A) c.3781-3C>A (n.3781-3C>A) c.*177-3C>A (n.*177-3C>A) c.*617-3C>A (n.*617-3C>A) c.3964-3C>A (n.3964-3C>A) c.*625-3C>A (n.*625-3C>A) c.*2339-3C>A (n.*2339-3C>A) c.3958-3C>A (n.3958-3C>A) c.*3788-3C>A (n.*3788-3C>A) c.3538-3C>A (n.3538-3C>A) n.2132-3C>A c.828-3C>A (n.828-3C>A) c.1751-3C>A (n.1751-3C>A) c.546-3C>A c.1414-3C>A c.3874-3C>A (n.3874-3C>A) c.90-3C>A c.4054-3C>A (n.4054-3C>A) c.3721-3C>A (n.3721-3C>A) | ClinVar |
| 7 | g.117664685C= | CA1737421686 | CFTR | c.*173-3C= (n.*173-3C=) c.*3678-3C= (n.*3678-3C=) c.3781-3C= (n.3781-3C=) c.*177-3C= (n.*177-3C=) c.*617-3C= (n.*617-3C=) c.3964-3C= (n.3964-3C=) c.*625-3C= (n.*625-3C=) c.*2339-3C= (n.*2339-3C=) c.3958-3C= (n.3958-3C=) c.*3788-3C= (n.*3788-3C=) c.3538-3C= (n.3538-3C=) n.2132-3C= c.828-3C= (n.828-3C=) c.1751-3C= (n.1751-3C=) c.546-3C= c.1414-3C= c.3874-3C= (n.3874-3C=) c.90-3C= c.4054-3C= (n.4054-3C=) c.3721-3C= (n.3721-3C=) | |
| 7 | g.117664685C>G | CA327366 | CFTR | c.*173-3C>G (n.*173-3C>G) c.*3678-3C>G (n.*3678-3C>G) c.3781-3C>G (n.3781-3C>G) c.*177-3C>G (n.*177-3C>G) c.*617-3C>G (n.*617-3C>G) c.3964-3C>G (n.3964-3C>G) c.*625-3C>G (n.*625-3C>G) c.*2339-3C>G (n.*2339-3C>G) c.3958-3C>G (n.3958-3C>G) c.*3788-3C>G (n.*3788-3C>G) c.3538-3C>G (n.3538-3C>G) n.2132-3C>G c.828-3C>G (n.828-3C>G) c.1751-3C>G (n.1751-3C>G) c.546-3C>G c.1414-3C>G c.3874-3C>G (n.3874-3C>G) c.90-3C>G c.4054-3C>G (n.4054-3C>G) c.3721-3C>G (n.3721-3C>G) | ClinVar dbSNP |
| 7 | g.117664686A= | CA1737421695 | CFTR | c.*173-2A= (n.*173-2A=) c.*3678-2A= (n.*3678-2A=) c.3781-2A= (n.3781-2A=) c.*177-2A= (n.*177-2A=) c.*617-2A= (n.*617-2A=) c.3964-2A= (n.3964-2A=) c.*625-2A= (n.*625-2A=) c.*2339-2A= (n.*2339-2A=) c.3958-2A= (n.3958-2A=) c.*3788-2A= (n.*3788-2A=) c.3538-2A= (n.3538-2A=) n.2132-2A= c.828-2A= (n.828-2A=) c.1751-2A= (n.1751-2A=) c.546-2A= c.1414-2A= c.3874-2A= (n.3874-2A=) c.90-2A= c.4054-2A= (n.4054-2A=) c.3721-2A= (n.3721-2A=) | |
| 7 | g.117664686A>C | CA368981685 | CFTR | c.*173-2A>C (n.*173-2A>C) c.*3678-2A>C (n.*3678-2A>C) c.3781-2A>C (n.3781-2A>C) c.*177-2A>C (n.*177-2A>C) c.*617-2A>C (n.*617-2A>C) c.3964-2A>C (n.3964-2A>C) c.*625-2A>C (n.*625-2A>C) c.*2339-2A>C (n.*2339-2A>C) c.3958-2A>C (n.3958-2A>C) c.*3788-2A>C (n.*3788-2A>C) c.3538-2A>C (n.3538-2A>C) n.2132-2A>C c.828-2A>C (n.828-2A>C) c.1751-2A>C (n.1751-2A>C) c.546-2A>C c.1414-2A>C c.3874-2A>C (n.3874-2A>C) c.90-2A>C c.4054-2A>C (n.4054-2A>C) c.3721-2A>C (n.3721-2A>C) | |
| 7 | g.117664686A>G | CA368981677 | CFTR | c.*173-2A>G (n.*173-2A>G) c.*3678-2A>G (n.*3678-2A>G) c.3781-2A>G (n.3781-2A>G) c.*177-2A>G (n.*177-2A>G) c.*617-2A>G (n.*617-2A>G) c.3964-2A>G (n.3964-2A>G) c.*625-2A>G (n.*625-2A>G) c.*2339-2A>G (n.*2339-2A>G) c.3958-2A>G (n.3958-2A>G) c.*3788-2A>G (n.*3788-2A>G) c.3538-2A>G (n.3538-2A>G) n.2132-2A>G c.828-2A>G (n.828-2A>G) c.1751-2A>G (n.1751-2A>G) c.546-2A>G c.1414-2A>G c.3874-2A>G (n.3874-2A>G) c.90-2A>G c.4054-2A>G (n.4054-2A>G) c.3721-2A>G (n.3721-2A>G) | |
| 7 | g.117664686A>T | CA368981680 | CFTR | c.*173-2A>T (n.*173-2A>T) c.*3678-2A>T (n.*3678-2A>T) c.3781-2A>T (n.3781-2A>T) c.*177-2A>T (n.*177-2A>T) c.*617-2A>T (n.*617-2A>T) c.3964-2A>T (n.3964-2A>T) c.*625-2A>T (n.*625-2A>T) c.*2339-2A>T (n.*2339-2A>T) c.3958-2A>T (n.3958-2A>T) c.*3788-2A>T (n.*3788-2A>T) c.3538-2A>T (n.3538-2A>T) n.2132-2A>T c.828-2A>T (n.828-2A>T) c.1751-2A>T (n.1751-2A>T) c.546-2A>T c.1414-2A>T c.3874-2A>T (n.3874-2A>T) c.90-2A>T c.4054-2A>T (n.4054-2A>T) c.3721-2A>T (n.3721-2A>T) | |
| 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.117664687G>A | CA368981687 | CFTR | c.*173-1G>A (n.*173-1G>A) c.*3678-1G>A (n.*3678-1G>A) c.3781-1G>A (n.3781-1G>A) c.*177-1G>A (n.*177-1G>A) c.*617-1G>A (n.*617-1G>A) c.3964-1G>A (n.3964-1G>A) c.*625-1G>A (n.*625-1G>A) c.*2339-1G>A (n.*2339-1G>A) c.3958-1G>A (n.3958-1G>A) c.*3788-1G>A (n.*3788-1G>A) c.3538-1G>A (n.3538-1G>A) n.2132-1G>A c.828-1G>A (n.828-1G>A) c.1751-1G>A (n.1751-1G>A) c.546-1G>A c.1414-1G>A c.3874-1G>A (n.3874-1G>A) c.90-1G>A c.4054-1G>A (n.4054-1G>A) c.3721-1G>A (n.3721-1G>A) | gnomAD v4 |
| 7 | g.117664687G>C | CA368981689 | CFTR | c.*173-1G>C (n.*173-1G>C) c.*3678-1G>C (n.*3678-1G>C) c.3781-1G>C (n.3781-1G>C) c.*177-1G>C (n.*177-1G>C) c.*617-1G>C (n.*617-1G>C) c.3964-1G>C (n.3964-1G>C) c.*625-1G>C (n.*625-1G>C) c.*2339-1G>C (n.*2339-1G>C) c.3958-1G>C (n.3958-1G>C) c.*3788-1G>C (n.*3788-1G>C) c.3538-1G>C (n.3538-1G>C) n.2132-1G>C c.828-1G>C (n.828-1G>C) c.1751-1G>C (n.1751-1G>C) c.546-1G>C c.1414-1G>C c.3874-1G>C (n.3874-1G>C) c.90-1G>C c.4054-1G>C (n.4054-1G>C) c.3721-1G>C (n.3721-1G>C) | |
| 7 | g.117664687G>T | CA368981693 | CFTR | c.*173-1G>T (n.*173-1G>T) c.*3678-1G>T (n.*3678-1G>T) c.3781-1G>T (n.3781-1G>T) c.*177-1G>T (n.*177-1G>T) c.*617-1G>T (n.*617-1G>T) c.3964-1G>T (n.3964-1G>T) c.*625-1G>T (n.*625-1G>T) c.*2339-1G>T (n.*2339-1G>T) c.3958-1G>T (n.3958-1G>T) c.*3788-1G>T (n.*3788-1G>T) c.3538-1G>T (n.3538-1G>T) n.2132-1G>T c.828-1G>T (n.828-1G>T) c.1751-1G>T (n.1751-1G>T) c.546-1G>T c.1414-1G>T c.3874-1G>T (n.3874-1G>T) c.90-1G>T c.4054-1G>T (n.4054-1G>T) c.3721-1G>T (n.3721-1G>T) | |
| 7 | g.117664687_117664688delinsTT | CA2580076352 | CFTR | c.*173-1_*173delinsTT c.*3678-1_*3678delinsTT c.3781-1_3781delinsTT c.*177-1_*177delinsTT c.*617-1_*617delinsTT c.3964-1_3964delinsTT c.*625-1_*625delinsTT c.*2339-1_*2339delinsTT c.3958-1_3958delinsTT c.*3788-1_*3788delinsTT c.3538-1_3538delinsTT n.2132-1_2132delinsTT c.828-1_828delinsTT c.1751-1_1751delinsTT c.546-1_546delinsTT c.1414-1_1414delinsTT c.3874-1_3874delinsTT c.90-1_90delinsTT c.4054-1_4054delinsTT c.3721-1_3721delinsTT | ClinVar |
| 7 | g.117664689_117664693dup | CA577680854 | CFTR | c.*174_*178dup c.*3679_*3683dup c.3782_3786dup c.*178_*182dup c.*618_*622dup c.3965_3969dup c.*626_*630dup c.*2340_*2344dup c.3959_3963dup c.*3789_*3793dup c.3539_3543dup n.2133_2137dup c.829_833dup c.1752_1756dup c.547_551dup c.1415_1419dup c.3875_3879dup c.91_95dup c.4055_4059dup c.3722_3726dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 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.117664688G>A | CA4451603 | CFTR | c.*173G>A (n.*173G>A) c.*3678G>A (n.*3678G>A) c.3781G>A (p.Val1261Ile) c.*177G>A (n.*177G>A) c.*617G>A (n.*617G>A) c.3964G>A (p.Val1322Ile) c.*625G>A (n.*625G>A) c.*2339G>A (n.*2339G>A) c.3958G>A (p.Val1320Ile) c.*3788G>A (n.*3788G>A) c.3538G>A (p.Val1180Ile) n.2132G>A c.828G>A (n.828G>A) c.1751G>A (n.1751G>A) c.546G>A c.1414G>A c.3874G>A (p.Val1292Ile) c.90G>A c.4054G>A (p.Val1352Ile) c.3721G>A (p.Val1241Ile) | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.117664688G>C | CA368981694 | CFTR | c.*173G>C (n.*173G>C) c.*3678G>C (n.*3678G>C) c.3781G>C (p.Val1261Leu) c.*177G>C (n.*177G>C) c.*617G>C (n.*617G>C) c.3964G>C (p.Val1322Leu) c.*625G>C (n.*625G>C) c.*2339G>C (n.*2339G>C) c.3958G>C (p.Val1320Leu) c.*3788G>C (n.*3788G>C) c.3538G>C (p.Val1180Leu) n.2132G>C c.828G>C (n.828G>C) c.1751G>C (n.1751G>C) c.546G>C c.1414G>C c.3874G>C (p.Val1292Leu) c.90G>C c.4054G>C (p.Val1352Leu) c.3721G>C (p.Val1241Leu) | |
| 7 | g.117664688G= | CA1737421713 | CFTR | c.*173G= (n.*173G=) c.*3678G= (n.*3678G=) c.3781G= (p.Val1261=) c.*177G= (n.*177G=) c.*617G= (n.*617G=) c.3964G= (p.Val1322=) c.*625G= (n.*625G=) c.*2339G= (n.*2339G=) c.3958G= (p.Val1320=) c.*3788G= (n.*3788G=) c.3538G= (p.Val1180=) n.2132G= c.828G= (n.828G=) c.1751G= (n.1751G=) c.546G= c.1414G= c.3874G= (p.Val1292=) c.90G= c.4054G= (p.Val1352=) c.3721G= (p.Val1241=) | |
| 7 | g.117664688G>T | CA4451604 | CFTR | c.*173G>T (n.*173G>T) c.*3678G>T (n.*3678G>T) c.3781G>T (p.Val1261Phe) c.*177G>T (n.*177G>T) c.*617G>T (n.*617G>T) c.3964G>T (p.Val1322Phe) c.*625G>T (n.*625G>T) c.*2339G>T (n.*2339G>T) c.3958G>T (p.Val1320Phe) c.*3788G>T (n.*3788G>T) c.3538G>T (p.Val1180Phe) n.2132G>T c.828G>T (n.828G>T) c.1751G>T (n.1751G>T) c.546G>T c.1414G>T c.3874G>T (p.Val1292Phe) c.90G>T c.4054G>T (p.Val1352Phe) c.3721G>T (p.Val1241Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117664689T>A | CA368981699 | CFTR | c.*174T>A (n.*174T>A) c.*3679T>A (n.*3679T>A) c.3782T>A (p.Val1261Asp) c.*178T>A (n.*178T>A) c.*618T>A (n.*618T>A) c.3965T>A (p.Val1322Asp) c.*626T>A (n.*626T>A) c.*2340T>A (n.*2340T>A) c.3959T>A (p.Val1320Asp) c.*3789T>A (n.*3789T>A) c.3539T>A (p.Val1180Asp) n.2133T>A c.829T>A (n.829T>A) c.1752T>A (n.1752T>A) c.547T>A c.1415T>A c.3875T>A (p.Val1292Asp) c.91T>A c.4055T>A (p.Val1352Asp) c.3722T>A (p.Val1241Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117664689T>C | CA368981706 | CFTR | c.*174T>C (n.*174T>C) c.*3679T>C (n.*3679T>C) c.3782T>C (p.Val1261Ala) c.*178T>C (n.*178T>C) c.*618T>C (n.*618T>C) c.3965T>C (p.Val1322Ala) c.*626T>C (n.*626T>C) c.*2340T>C (n.*2340T>C) c.3959T>C (p.Val1320Ala) c.*3789T>C (n.*3789T>C) c.3539T>C (p.Val1180Ala) n.2133T>C c.829T>C (n.829T>C) c.1752T>C (n.1752T>C) c.547T>C c.1415T>C c.3875T>C (p.Val1292Ala) c.91T>C c.4055T>C (p.Val1352Ala) c.3722T>C (p.Val1241Ala) | |
| 7 | g.117664689T>G | CA368981711 | CFTR | c.*174T>G (n.*174T>G) c.*3679T>G (n.*3679T>G) c.3782T>G (p.Val1261Gly) c.*178T>G (n.*178T>G) c.*618T>G (n.*618T>G) c.3965T>G (p.Val1322Gly) c.*626T>G (n.*626T>G) c.*2340T>G (n.*2340T>G) c.3959T>G (p.Val1320Gly) c.*3789T>G (n.*3789T>G) c.3539T>G (p.Val1180Gly) n.2133T>G c.829T>G (n.829T>G) c.1752T>G (n.1752T>G) c.547T>G c.1415T>G c.3875T>G (p.Val1292Gly) c.91T>G c.4055T>G (p.Val1352Gly) c.3722T>G (p.Val1241Gly) | |
| 7 | g.117664689T= | CA1737421714 | CFTR | c.*174T= (n.*174T=) c.*3679T= (n.*3679T=) c.3782T= (p.Val1261=) c.*178T= (n.*178T=) c.*618T= (n.*618T=) c.3965T= (p.Val1322=) c.*626T= (n.*626T=) c.*2340T= (n.*2340T=) c.3959T= (p.Val1320=) c.*3789T= (n.*3789T=) c.3539T= (p.Val1180=) n.2133T= c.829T= (n.829T=) c.1752T= (n.1752T=) c.547T= c.1415T= c.3875T= (p.Val1292=) c.91T= c.4055T= (p.Val1352=) c.3722T= (p.Val1241=) | |
| 7 | g.117664690T>A | CA457230250 | CFTR | c.*175T>A (n.*175T>A) c.*3680T>A (n.*3680T>A) c.3783T>A (p.Val1261=) c.*179T>A (n.*179T>A) c.*619T>A (n.*619T>A) c.3966T>A (p.Val1322=) c.*627T>A (n.*627T>A) c.*2341T>A (n.*2341T>A) c.3960T>A (p.Val1320=) c.*3790T>A (n.*3790T>A) c.3540T>A (p.Val1180=) n.2134T>A c.830T>A (n.830T>A) c.1753T>A (n.1753T>A) c.548T>A c.1416T>A c.3876T>A (p.Val1292=) c.92T>A c.4056T>A (p.Val1352=) c.3723T>A (p.Val1241=) | ClinVar |