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.117536670_117540100del | CA916084100 | CFTR | c.866_870del c.*763_*767del c.*690_*694del c.623_627del c.776_780del c.956_960del | |
| 7 | g.117540049A= | CA1737331701 | CFTR | c.870-51A= (n.870-51A=) c.*767-51A= (n.*767-51A=) c.*694-51A= (n.*694-51A=) c.627-51A= (n.627-51A=) c.780-51A= (n.780-51A=) c.960-51A= (n.960-51A=) | |
| 7 | g.117540049A>C | CA577214679 | CFTR | c.870-51A>C (n.870-51A>C) c.*767-51A>C (n.*767-51A>C) c.*694-51A>C (n.*694-51A>C) c.627-51A>C (n.627-51A>C) c.780-51A>C (n.780-51A>C) c.960-51A>C (n.960-51A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540049A>G | CA1737331699 | CFTR | c.870-51A>G (n.870-51A>G) c.*767-51A>G (n.*767-51A>G) c.*694-51A>G (n.*694-51A>G) c.627-51A>G (n.627-51A>G) c.780-51A>G (n.780-51A>G) c.960-51A>G (n.960-51A>G) | dbSNP gnomAD v4 |
| 7 | g.117540051T>C | CA1106311387 | CFTR | c.870-49T>C (n.870-49T>C) c.*767-49T>C (n.*767-49T>C) c.*694-49T>C (n.*694-49T>C) c.627-49T>C (n.627-49T>C) c.780-49T>C (n.780-49T>C) c.960-49T>C (n.960-49T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540051T= | CA1737331703 | CFTR | c.870-49T= (n.870-49T=) c.*767-49T= (n.*767-49T=) c.*694-49T= (n.*694-49T=) c.627-49T= (n.627-49T=) c.780-49T= (n.780-49T=) c.960-49T= (n.960-49T=) | |
| 7 | g.117540052T>C | CA2684618140 | CFTR | c.870-48T>C (n.870-48T>C) c.*767-48T>C (n.*767-48T>C) c.*694-48T>C (n.*694-48T>C) c.627-48T>C (n.627-48T>C) c.780-48T>C (n.780-48T>C) c.960-48T>C (n.960-48T>C) | gnomAD v4 |
| 7 | g.117540053G>T | CA2556659518 | CFTR | c.870-47G>T (n.870-47G>T) c.*767-47G>T (n.*767-47G>T) c.*694-47G>T (n.*694-47G>T) c.627-47G>T (n.627-47G>T) c.780-47G>T (n.780-47G>T) c.960-47G>T (n.960-47G>T) | |
| 7 | g.117540058del | CA2579000157 | CFTR | c.870-42del (n.870-42del) c.*767-42del (n.*767-42del) c.*694-42del (n.*694-42del) c.627-42del (n.627-42del) c.780-42del (n.780-42del) c.960-42del (n.960-42del) | |
| 7 | g.117540057A>G | CA2684618141 | CFTR | c.870-43A>G (n.870-43A>G) c.*767-43A>G (n.*767-43A>G) c.*694-43A>G (n.*694-43A>G) c.627-43A>G (n.627-43A>G) c.780-43A>G (n.780-43A>G) c.960-43A>G (n.960-43A>G) | gnomAD v4 |
| 7 | g.117540059T>C | CA1106311417 | CFTR | c.870-41T>C (n.870-41T>C) c.*767-41T>C (n.*767-41T>C) c.*694-41T>C (n.*694-41T>C) c.627-41T>C (n.627-41T>C) c.780-41T>C (n.780-41T>C) c.960-41T>C (n.960-41T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540059T= | CA1737331706 | CFTR | c.870-41T= (n.870-41T=) c.*767-41T= (n.*767-41T=) c.*694-41T= (n.*694-41T=) c.627-41T= (n.627-41T=) c.780-41T= (n.780-41T=) c.960-41T= (n.960-41T=) | |
| 7 | g.117540063del | CA2579000158 | CFTR | c.870-37del (n.870-37del) c.*767-37del (n.*767-37del) c.*694-37del (n.*694-37del) c.627-37del (n.627-37del) c.780-37del (n.780-37del) c.960-37del (n.960-37del) | |
| 7 | g.117540062A>G | CA2684618142 | CFTR | c.870-38A>G (n.870-38A>G) c.*767-38A>G (n.*767-38A>G) c.*694-38A>G (n.*694-38A>G) c.627-38A>G (n.627-38A>G) c.780-38A>G (n.780-38A>G) c.960-38A>G (n.960-38A>G) | gnomAD v4 |
| 7 | g.117540065A= | CA1737331707 | CFTR | c.870-35A= (n.870-35A=) c.*767-35A= (n.*767-35A=) c.*694-35A= (n.*694-35A=) c.627-35A= (n.627-35A=) c.780-35A= (n.780-35A=) c.960-35A= (n.960-35A=) | |
| 7 | g.117540065A>G | CA1106311421 | CFTR | c.870-35A>G (n.870-35A>G) c.*767-35A>G (n.*767-35A>G) c.*694-35A>G (n.*694-35A>G) c.627-35A>G (n.627-35A>G) c.780-35A>G (n.780-35A>G) c.960-35A>G (n.960-35A>G) | dbSNP |
| 7 | g.117540066del | CA2533030599 | CFTR | c.870-34del (n.870-34del) c.*767-34del (n.*767-34del) c.*694-34del (n.*694-34del) c.627-34del (n.627-34del) c.780-34del (n.780-34del) c.960-34del (n.960-34del) | gnomAD v4 |
| 7 | g.117540066A= | CA1737331708 | CFTR | c.870-34A= (n.870-34A=) c.*767-34A= (n.*767-34A=) c.*694-34A= (n.*694-34A=) c.627-34A= (n.627-34A=) c.780-34A= (n.780-34A=) c.960-34A= (n.960-34A=) | |
| 7 | g.117540066A>G | CA832114426 | CFTR | c.870-34A>G (n.870-34A>G) c.*767-34A>G (n.*767-34A>G) c.*694-34A>G (n.*694-34A>G) c.627-34A>G (n.627-34A>G) c.780-34A>G (n.780-34A>G) c.960-34A>G (n.960-34A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540066A>T | CA4450850 | CFTR | c.870-34A>T (n.870-34A>T) c.*767-34A>T (n.*767-34A>T) c.*694-34A>T (n.*694-34A>T) c.627-34A>T (n.627-34A>T) c.780-34A>T (n.780-34A>T) c.960-34A>T (n.960-34A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117540067C>A | CA2684618143 | CFTR | c.870-33C>A (n.870-33C>A) c.*767-33C>A (n.*767-33C>A) c.*694-33C>A (n.*694-33C>A) c.627-33C>A (n.627-33C>A) c.780-33C>A (n.780-33C>A) c.960-33C>A (n.960-33C>A) | gnomAD v4 |
| 7 | g.117540068A>G | CA2684618144 | CFTR | c.870-32A>G (n.870-32A>G) c.*767-32A>G (n.*767-32A>G) c.*694-32A>G (n.*694-32A>G) c.627-32A>G (n.627-32A>G) c.780-32A>G (n.780-32A>G) c.960-32A>G (n.960-32A>G) | gnomAD v4 |
| 7 | g.117540070_117540073dup | CA2684618145 | CFTR | c.870-30_870-27dup (n.870-30_870-27dup) c.*767-30_*767-27dup (n.*767-30_*767-27dup) c.*694-30_*694-27dup (n.*694-30_*694-27dup) c.627-30_627-27dup (n.627-30_627-27dup) c.780-30_780-27dup (n.780-30_780-27dup) c.960-30_960-27dup (n.960-30_960-27dup) | gnomAD v4 |
| 7 | g.117540071C>A | CA2684618146 | CFTR | c.870-29C>A (n.870-29C>A) c.*767-29C>A (n.*767-29C>A) c.*694-29C>A (n.*694-29C>A) c.627-29C>A (n.627-29C>A) c.780-29C>A (n.780-29C>A) c.960-29C>A (n.960-29C>A) | gnomAD v4 |
| 7 | g.117540072T>G | CA1737331711 | CFTR | c.870-28T>G (n.870-28T>G) c.*767-28T>G (n.*767-28T>G) c.*694-28T>G (n.*694-28T>G) c.627-28T>G (n.627-28T>G) c.780-28T>G (n.780-28T>G) c.960-28T>G (n.960-28T>G) | dbSNP |
| 7 | g.117540072T= | CA1737331710 | CFTR | c.870-28T= (n.870-28T=) c.*767-28T= (n.*767-28T=) c.*694-28T= (n.*694-28T=) c.627-28T= (n.627-28T=) c.780-28T= (n.780-28T=) c.960-28T= (n.960-28T=) | |
| 7 | g.117540073G>A | CA1106311432 | CFTR | c.870-27G>A (n.870-27G>A) c.*767-27G>A (n.*767-27G>A) c.*694-27G>A (n.*694-27G>A) c.627-27G>A (n.627-27G>A) c.780-27G>A (n.780-27G>A) c.960-27G>A (n.960-27G>A) | gnomAD v3 gnomAD v4 |
| 7 | g.117540073G>T | CA2684618147 | CFTR | c.870-27G>T (n.870-27G>T) c.*767-27G>T (n.*767-27G>T) c.*694-27G>T (n.*694-27G>T) c.627-27G>T (n.627-27G>T) c.780-27G>T (n.780-27G>T) c.960-27G>T (n.960-27G>T) | gnomAD v4 |
| 7 | g.117540074A= | CA1737331712 | CFTR | c.870-26A= (n.870-26A=) c.*767-26A= (n.*767-26A=) c.*694-26A= (n.*694-26A=) c.627-26A= (n.627-26A=) c.780-26A= (n.780-26A=) c.960-26A= (n.960-26A=) | |
| 7 | g.117540074A>T | CA832114427 | CFTR | c.870-26A>T (n.870-26A>T) c.*767-26A>T (n.*767-26A>T) c.*694-26A>T (n.*694-26A>T) c.627-26A>T (n.627-26A>T) c.780-26A>T (n.780-26A>T) c.960-26A>T (n.960-26A>T) | dbSNP gnomAD v4 |
| 7 | g.117540075A= | CA1737331713 | CFTR | c.870-25A= (n.870-25A=) c.*767-25A= (n.*767-25A=) c.*694-25A= (n.*694-25A=) c.627-25A= (n.627-25A=) c.780-25A= (n.780-25A=) c.960-25A= (n.960-25A=) | |
| 7 | g.117540075A>G | CA1737331714 | CFTR | c.870-25A>G (n.870-25A>G) c.*767-25A>G (n.*767-25A>G) c.*694-25A>G (n.*694-25A>G) c.627-25A>G (n.627-25A>G) c.780-25A>G (n.780-25A>G) c.960-25A>G (n.960-25A>G) | dbSNP |
| 7 | g.117540077T>G | CA2684618148 | CFTR | c.870-23T>G (n.870-23T>G) c.*767-23T>G (n.*767-23T>G) c.*694-23T>G (n.*694-23T>G) c.627-23T>G (n.627-23T>G) c.780-23T>G (n.780-23T>G) c.960-23T>G (n.960-23T>G) | gnomAD v4 |
| 7 | g.117540078T>C | CA4450851 | CFTR | c.870-22T>C (n.870-22T>C) c.*767-22T>C (n.*767-22T>C) c.*694-22T>C (n.*694-22T>C) c.627-22T>C (n.627-22T>C) c.780-22T>C (n.780-22T>C) c.960-22T>C (n.960-22T>C) | dbSNP ExAC gnomAD v2 |
| 7 | g.117540078T>G | CA2684618149 | CFTR | c.870-22T>G (n.870-22T>G) c.*767-22T>G (n.*767-22T>G) c.*694-22T>G (n.*694-22T>G) c.627-22T>G (n.627-22T>G) c.780-22T>G (n.780-22T>G) c.960-22T>G (n.960-22T>G) | gnomAD v4 |
| 7 | g.117540078T= | CA1737331716 | CFTR | c.870-22T= (n.870-22T=) c.*767-22T= (n.*767-22T=) c.*694-22T= (n.*694-22T=) c.627-22T= (n.627-22T=) c.780-22T= (n.780-22T=) c.960-22T= (n.960-22T=) | |
| 7 | g.117540079T>C | CA4450852 | CFTR | c.870-21T>C (n.870-21T>C) c.*767-21T>C (n.*767-21T>C) c.*694-21T>C (n.*694-21T>C) c.627-21T>C (n.627-21T>C) c.780-21T>C (n.780-21T>C) c.960-21T>C (n.960-21T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540079T= | CA1737331718 | CFTR | c.870-21T= (n.870-21T=) c.*767-21T= (n.*767-21T=) c.*694-21T= (n.*694-21T=) c.627-21T= (n.627-21T=) c.780-21T= (n.780-21T=) c.960-21T= (n.960-21T=) | |
| 7 | g.117540080A>G | CA2684618150 | CFTR | c.870-20A>G (n.870-20A>G) c.*767-20A>G (n.*767-20A>G) c.*694-20A>G (n.*694-20A>G) c.627-20A>G (n.627-20A>G) c.780-20A>G (n.780-20A>G) c.960-20A>G (n.960-20A>G) | gnomAD v4 |
| 7 | g.117540080A>T | CA2684618151 | CFTR | c.870-20A>T (n.870-20A>T) c.*767-20A>T (n.*767-20A>T) c.*694-20A>T (n.*694-20A>T) c.627-20A>T (n.627-20A>T) c.780-20A>T (n.780-20A>T) c.960-20A>T (n.960-20A>T) | gnomAD v4 |
| 7 | g.117540082T>C | CA2579000159 | CFTR | c.870-18T>C (n.870-18T>C) c.*767-18T>C (n.*767-18T>C) c.*694-18T>C (n.*694-18T>C) c.627-18T>C (n.627-18T>C) c.780-18T>C (n.780-18T>C) c.960-18T>C (n.960-18T>C) | |
| 7 | g.117540083G>C | CA2579000160 | CFTR | c.870-17G>C (n.870-17G>C) c.*767-17G>C (n.*767-17G>C) c.*694-17G>C (n.*694-17G>C) c.627-17G>C (n.627-17G>C) c.780-17G>C (n.780-17G>C) c.960-17G>C (n.960-17G>C) | gnomAD v4 |
| 7 | g.117540083G>T | CA2684618152 | CFTR | c.870-17G>T (n.870-17G>T) c.*767-17G>T (n.*767-17G>T) c.*694-17G>T (n.*694-17G>T) c.627-17G>T (n.627-17G>T) c.780-17G>T (n.780-17G>T) c.960-17G>T (n.960-17G>T) | gnomAD v4 |
| 7 | g.117540084T>C | CA577678367 | CFTR | c.870-16T>C (n.870-16T>C) c.*767-16T>C (n.*767-16T>C) c.*694-16T>C (n.*694-16T>C) c.627-16T>C (n.627-16T>C) c.780-16T>C (n.780-16T>C) c.960-16T>C (n.960-16T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540084T= | CA1737331721 | CFTR | c.870-16T= (n.870-16T=) c.*767-16T= (n.*767-16T=) c.*694-16T= (n.*694-16T=) c.627-16T= (n.627-16T=) c.780-16T= (n.780-16T=) c.960-16T= (n.960-16T=) | |
| 7 | g.117540086A>G | CA2684618153 | CFTR | c.870-14A>G (n.870-14A>G) c.*767-14A>G (n.*767-14A>G) c.*694-14A>G (n.*694-14A>G) c.627-14A>G (n.627-14A>G) c.780-14A>G (n.780-14A>G) c.960-14A>G (n.960-14A>G) | gnomAD v4 |
| 7 | g.117540086_117540094delinsATTGTTTTT | CA1737331723 | CFTR | c.870-14_870-6delinsATTGTTTTT (n.870-14_870-6delinsATTGTTTTT) c.*767-14_*767-6delinsATTGTTTTT (n.*767-14_*767-6delinsATTGTTTTT) c.*694-14_*694-6delinsATTGTTTTT (n.*694-14_*694-6delinsATTGTTTTT) c.627-14_627-6delinsATTGTTTTT (n.627-14_627-6delinsATTGTTTTT) c.780-14_780-6delinsATTGTTTTT (n.780-14_780-6delinsATTGTTTTT) c.960-14_960-6delinsATTGTTTTT (n.960-14_960-6delinsATTGTTTTT) | |
| 7 | g.117540087T>C | CA4450854 | CFTR | c.870-13T>C (n.870-13T>C) c.*767-13T>C (n.*767-13T>C) c.*694-13T>C (n.*694-13T>C) c.627-13T>C (n.627-13T>C) c.780-13T>C (n.780-13T>C) c.960-13T>C (n.960-13T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540087T= | CA1737331726 | CFTR | c.870-13T= (n.870-13T=) c.*767-13T= (n.*767-13T=) c.*694-13T= (n.*694-13T=) c.627-13T= (n.627-13T=) c.780-13T= (n.780-13T=) c.960-13T= (n.960-13T=) | |
| 7 | g.117540088_117540095del | CA4450853 | CFTR | c.870-12_870-5del (n.870-12_870-5del) c.*767-12_*767-5del (n.*767-12_*767-5del) c.*694-12_*694-5del (n.*694-12_*694-5del) c.627-12_627-5del (n.627-12_627-5del) c.780-12_780-5del (n.780-12_780-5del) c.960-12_960-5del (n.960-12_960-5del) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 7 | g.117540088T>A | CA2580076382 | CFTR | c.870-12T>A (n.870-12T>A) c.*767-12T>A (n.*767-12T>A) c.*694-12T>A (n.*694-12T>A) c.627-12T>A (n.627-12T>A) c.780-12T>A (n.780-12T>A) c.960-12T>A (n.960-12T>A) | ClinVar |
| 7 | g.117540088T>G | CA2739279209 | CFTR | c.870-12T>G (n.870-12T>G) c.*767-12T>G (n.*767-12T>G) c.*694-12T>G (n.*694-12T>G) c.627-12T>G (n.627-12T>G) c.780-12T>G (n.780-12T>G) c.960-12T>G (n.960-12T>G) | ClinVar |
| 7 | g.117540089G>C | CA2684618154 | CFTR | c.870-11G>C (n.870-11G>C) c.*767-11G>C (n.*767-11G>C) c.*694-11G>C (n.*694-11G>C) c.627-11G>C (n.627-11G>C) c.780-11G>C (n.780-11G>C) c.960-11G>C (n.960-11G>C) | gnomAD v4 |
| 7 | g.117540089dup | CA913111897 | CFTR | c.870-11dup (n.870-11dup) c.*767-11dup (n.*767-11dup) c.*694-11dup (n.*694-11dup) c.627-11dup (n.627-11dup) c.780-11dup (n.780-11dup) c.960-11dup (n.960-11dup) | |
| 7 | g.117540089_117540092delinsGTTT | CA1737331728 | CFTR | c.870-11_870-8delinsGTTT (n.870-11_870-8delinsGTTT) c.*767-11_*767-8delinsGTTT (n.*767-11_*767-8delinsGTTT) c.*694-11_*694-8delinsGTTT (n.*694-11_*694-8delinsGTTT) c.627-11_627-8delinsGTTT (n.627-11_627-8delinsGTTT) c.780-11_780-8delinsGTTT (n.780-11_780-8delinsGTTT) c.960-11_960-8delinsGTTT (n.960-11_960-8delinsGTTT) | |
| 7 | g.117540090T>C | CA2684618155 | CFTR | c.870-10T>C (n.870-10T>C) c.*767-10T>C (n.*767-10T>C) c.*694-10T>C (n.*694-10T>C) c.627-10T>C (n.627-10T>C) c.780-10T>C (n.780-10T>C) c.960-10T>C (n.960-10T>C) | gnomAD v4 |
| 7 | g.117540095dup | CA164953298 | CFTR | c.870-5dup (n.870-5dup) c.*767-5dup (n.*767-5dup) c.*694-5dup (n.*694-5dup) c.627-5dup (n.627-5dup) c.780-5dup (n.780-5dup) c.960-5dup (n.960-5dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540095del | CA577678368 | CFTR | c.870-5del (n.870-5del) c.*767-5del (n.*767-5del) c.*694-5del (n.*694-5del) c.627-5del (n.627-5del) c.780-5del (n.780-5del) c.960-5del (n.960-5del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540093_117540095del | CA4450855 | CFTR | c.870-7_870-5del (n.870-7_870-5del) c.*767-7_*767-5del (n.*767-7_*767-5del) c.*694-7_*694-5del (n.*694-7_*694-5del) c.627-7_627-5del (n.627-7_627-5del) c.780-7_780-5del (n.780-7_780-5del) c.960-7_960-5del (n.960-7_960-5del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540091T>C | CA2499218675 | CFTR | c.870-9T>C (n.870-9T>C) c.*767-9T>C (n.*767-9T>C) c.*694-9T>C (n.*694-9T>C) c.627-9T>C (n.627-9T>C) c.780-9T>C (n.780-9T>C) c.960-9T>C (n.960-9T>C) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540091T>G | CA2715548586 | CFTR | c.870-9T>G (n.870-9T>G) c.*767-9T>G (n.*767-9T>G) c.*694-9T>G (n.*694-9T>G) c.627-9T>G (n.627-9T>G) c.780-9T>G (n.780-9T>G) c.960-9T>G (n.960-9T>G) | dbSNP |
| 7 | g.117540092T>C | CA2684618156 | CFTR | c.870-8T>C (n.870-8T>C) c.*767-8T>C (n.*767-8T>C) c.*694-8T>C (n.*694-8T>C) c.627-8T>C (n.627-8T>C) c.780-8T>C (n.780-8T>C) c.960-8T>C (n.960-8T>C) | ClinVar gnomAD v4 |
| 7 | g.117540094T>C | CA2739279210 | CFTR | c.870-6T>C (n.870-6T>C) c.*767-6T>C (n.*767-6T>C) c.*694-6T>C (n.*694-6T>C) c.627-6T>C (n.627-6T>C) c.780-6T>C (n.780-6T>C) c.960-6T>C (n.960-6T>C) | ClinVar |
| 7 | g.117540094T>G | CA832114447 | CFTR | c.870-6T>G (n.870-6T>G) c.*767-6T>G (n.*767-6T>G) c.*694-6T>G (n.*694-6T>G) c.627-6T>G (n.627-6T>G) c.780-6T>G (n.780-6T>G) c.960-6T>G (n.960-6T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540094T= | CA1737331738 | CFTR | c.870-6T= (n.870-6T=) c.*767-6T= (n.*767-6T=) c.*694-6T= (n.*694-6T=) c.627-6T= (n.627-6T=) c.780-6T= (n.780-6T=) c.960-6T= (n.960-6T=) | |
| 7 | g.117540096A= | CA1737331741 | CFTR | c.870-4A= (n.870-4A=) c.*767-4A= (n.*767-4A=) c.*694-4A= (n.*694-4A=) c.627-4A= (n.627-4A=) c.780-4A= (n.780-4A=) c.960-4A= (n.960-4A=) | |
| 7 | g.117540096A>G | CA4450856 | CFTR | c.870-4A>G (n.870-4A>G) c.*767-4A>G (n.*767-4A>G) c.*694-4A>G (n.*694-4A>G) c.627-4A>G (n.627-4A>G) c.780-4A>G (n.780-4A>G) c.960-4A>G (n.960-4A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117540096A>T | CA2684618157 | CFTR | c.870-4A>T (n.870-4A>T) c.*767-4A>T (n.*767-4A>T) c.*694-4A>T (n.*694-4A>T) c.627-4A>T (n.627-4A>T) c.780-4A>T (n.780-4A>T) c.960-4A>T (n.960-4A>T) | gnomAD v4 |
| 7 | g.117540097T>G | CA327677 | CFTR | c.870-3T>G (n.870-3T>G) c.*767-3T>G (n.*767-3T>G) c.*694-3T>G (n.*694-3T>G) c.627-3T>G (n.627-3T>G) c.780-3T>G (n.780-3T>G) c.960-3T>G (n.960-3T>G) | ClinVar dbSNP |
| 7 | g.117540097T= | CA1737331748 | CFTR | c.870-3T= (n.870-3T=) c.*767-3T= (n.*767-3T=) c.*694-3T= (n.*694-3T=) c.627-3T= (n.627-3T=) c.780-3T= (n.780-3T=) c.960-3T= (n.960-3T=) | |
| 7 | g.117540097_117540344delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC | CA1737331753 | CFTR | c.870-3_1114delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.*767-3_*1011delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.*694-3_*938delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.627-3_871delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.780-3_1024delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.960-3_1204delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC | |
| 7 | g.117540098A= | CA1737331762 | CFTR | c.870-2A= (n.870-2A=) c.*767-2A= (n.*767-2A=) c.*694-2A= (n.*694-2A=) c.627-2A= (n.627-2A=) c.780-2A= (n.780-2A=) c.960-2A= (n.960-2A=) | |
| 7 | g.117540098A>C | CA368977800 | CFTR | c.870-2A>C (n.870-2A>C) c.*767-2A>C (n.*767-2A>C) c.*694-2A>C (n.*694-2A>C) c.627-2A>C (n.627-2A>C) c.780-2A>C (n.780-2A>C) c.960-2A>C (n.960-2A>C) | |
| 7 | g.117540098A>G | CA368977807 | CFTR | c.870-2A>G (n.870-2A>G) c.*767-2A>G (n.*767-2A>G) c.*694-2A>G (n.*694-2A>G) c.627-2A>G (n.627-2A>G) c.780-2A>G (n.780-2A>G) c.960-2A>G (n.960-2A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540098A>T | CA368977812 | CFTR | c.870-2A>T (n.870-2A>T) c.*767-2A>T (n.*767-2A>T) c.*694-2A>T (n.*694-2A>T) c.627-2A>T (n.627-2A>T) c.780-2A>T (n.780-2A>T) c.960-2A>T (n.960-2A>T) | dbSNP |
| 7 | g.117540100_117540346del | CA913189992 | CFTR | c.870_1116del c.*767_*1013del c.*694_*940del c.627_873del c.780_1026del c.960_1206del | ClinVar dbSNP |
| 7 | g.117540099G>A | CA368977816 | CFTR | c.870-1G>A (n.870-1G>A) c.*767-1G>A (n.*767-1G>A) c.*694-1G>A (n.*694-1G>A) c.627-1G>A (n.627-1G>A) c.780-1G>A (n.780-1G>A) c.960-1G>A (n.960-1G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540099G>C | CA368977818 | CFTR | c.870-1G>C (n.870-1G>C) c.*767-1G>C (n.*767-1G>C) c.*694-1G>C (n.*694-1G>C) c.627-1G>C (n.627-1G>C) c.780-1G>C (n.780-1G>C) c.960-1G>C (n.960-1G>C) | ClinVar dbSNP |
| 7 | g.117540099G= | CA1737331767 | CFTR | c.870-1G= (n.870-1G=) c.*767-1G= (n.*767-1G=) c.*694-1G= (n.*694-1G=) c.627-1G= (n.627-1G=) c.780-1G= (n.780-1G=) c.960-1G= (n.960-1G=) | |
| 7 | g.117540099G>T | CA368977822 | CFTR | c.870-1G>T (n.870-1G>T) c.*767-1G>T (n.*767-1G>T) c.*694-1G>T (n.*694-1G>T) c.627-1G>T (n.627-1G>T) c.780-1G>T (n.780-1G>T) c.960-1G>T (n.960-1G>T) | |
| 7 | g.117540100A>C | CA368977824 | CFTR | c.870A>C (p.Gln290His) c.*767A>C (n.*767A>C) c.*694A>C (n.*694A>C) c.627A>C (p.Gln209His) c.780A>C (p.Gln260His) c.960A>C (p.Gln320His) | |
| 7 | g.117540100A>G | CA457448533 | CFTR | c.870A>G (p.Gln290=) c.*767A>G (n.*767A>G) c.*694A>G (n.*694A>G) c.627A>G (p.Gln209=) c.780A>G (p.Gln260=) c.960A>G (p.Gln320=) | |
| 7 | g.117540100A>T | CA368977826 | CFTR | c.870A>T (p.Gln290His) c.*767A>T (n.*767A>T) c.*694A>T (n.*694A>T) c.627A>T (p.Gln209His) c.780A>T (p.Gln260His) c.960A>T (p.Gln320His) | |
| 7 | g.117540101A= | CA1737331773 | CFTR | c.871A= (p.Thr291=) c.*768A= (n.*768A=) c.*695A= (n.*695A=) c.628A= (p.Thr210=) c.781A= (p.Thr261=) c.961A= (p.Thr321=) | |
| 7 | g.117540101A>C | CA368977831 | CFTR | c.871A>C (p.Thr291Pro) c.*768A>C (n.*768A>C) c.*695A>C (n.*695A>C) c.628A>C (p.Thr210Pro) c.781A>C (p.Thr261Pro) c.961A>C (p.Thr321Pro) | gnomAD v4 |
| 7 | g.117540101A>G | CA368977829 | CFTR | c.871A>G (p.Thr291Ala) c.*768A>G (n.*768A>G) c.*695A>G (n.*695A>G) c.628A>G (p.Thr210Ala) c.781A>G (p.Thr261Ala) c.961A>G (p.Thr321Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540101A>T | CA368977827 | CFTR | c.871A>T (p.Thr291Ser) c.*768A>T (n.*768A>T) c.*695A>T (n.*695A>T) c.628A>T (p.Thr210Ser) c.781A>T (p.Thr261Ser) c.961A>T (p.Thr321Ser) | |
| 7 | g.117540102C>A | CA368977837 | CFTR | c.872C>A (p.Thr291Lys) c.*769C>A (n.*769C>A) c.*696C>A (n.*696C>A) c.629C>A (p.Thr210Lys) c.782C>A (p.Thr261Lys) c.962C>A (p.Thr321Lys) | |
| 7 | g.117540102C= | CA1737331776 | CFTR | c.872C= (p.Thr291=) c.*769C= (n.*769C=) c.*696C= (n.*696C=) c.629C= (p.Thr210=) c.782C= (p.Thr261=) c.962C= (p.Thr321=) | |
| 7 | g.117540102C>G | CA4450858 | CFTR | c.872C>G (p.Thr291Arg) c.*769C>G (n.*769C>G) c.*696C>G (n.*696C>G) c.629C>G (p.Thr210Arg) c.782C>G (p.Thr261Arg) c.962C>G (p.Thr321Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117540102C>T | CA4450857 | CFTR | c.872C>T (p.Thr291Ile) c.*769C>T (n.*769C>T) c.*696C>T (n.*696C>T) c.629C>T (p.Thr210Ile) c.782C>T (p.Thr261Ile) c.962C>T (p.Thr321Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540102_117540104delinsCAG | CA1737331779 | CFTR | c.872_874delinsCAG (p.Thr291=) c.*769_*771delinsCAG (n.*769_*771delinsCAG) c.*696_*698delinsCAG (n.*696_*698delinsCAG) c.629_631delinsCAG (p.Thr210=) c.782_784delinsCAG (p.Thr261=) c.962_964delinsCAG (p.Thr321=) | |
| 7 | g.117540103A= | CA1737331785 | CFTR | c.873A= (p.Thr291=) c.*770A= (n.*770A=) c.*697A= (n.*697A=) c.630A= (p.Thr210=) c.783A= (p.Thr261=) c.963A= (p.Thr321=) | |
| 7 | g.117540103A>C | CA457448536 | CFTR | c.873A>C (p.Thr291=) c.*770A>C (n.*770A>C) c.*697A>C (n.*697A>C) c.630A>C (p.Thr210=) c.783A>C (p.Thr261=) c.963A>C (p.Thr321=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540103A>G | CA457448538 | CFTR | c.873A>G (p.Thr291=) c.*770A>G (n.*770A>G) c.*697A>G (n.*697A>G) c.630A>G (p.Thr210=) c.783A>G (p.Thr261=) c.963A>G (p.Thr321=) | |
| 7 | g.117540103A>T | CA457448540 | CFTR | c.873A>T (p.Thr291=) c.*770A>T (n.*770A>T) c.*697A>T (n.*697A>T) c.630A>T (p.Thr210=) c.783A>T (p.Thr261=) c.963A>T (p.Thr321=) | |
| 7 | g.117540104_117540105del | CA1139660104 | CFTR | c.874_875del (p.Glu292ThrfsTer15) c.*771_*772del (n.*771_*772del) c.*698_*699del (n.*698_*699del) c.631_632del (p.Glu211ThrfsTer15) c.784_785del (p.Glu262ThrfsTer15) c.964_965del (p.Glu322ThrfsTer15) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540104G>A | CA327678 | CFTR | c.874G>A (p.Glu292Lys) c.*771G>A (n.*771G>A) c.*698G>A (n.*698G>A) c.631G>A (p.Glu211Lys) c.784G>A (p.Glu262Lys) c.964G>A (p.Glu322Lys) | ClinVar dbSNP |
| 7 | g.117540104G>C | CA368977845 | CFTR | c.874G>C (p.Glu292Gln) c.*771G>C (n.*771G>C) c.*698G>C (n.*698G>C) c.631G>C (p.Glu211Gln) c.784G>C (p.Glu262Gln) c.964G>C (p.Glu322Gln) | |
| 7 | g.117540104G= | CA1737331792 | CFTR | c.874G= (p.Glu292=) c.*771G= (n.*771G=) c.*698G= (n.*698G=) c.631G= (p.Glu211=) c.784G= (p.Glu262=) c.964G= (p.Glu322=) | |
| 7 | g.117540104G>T | CA368977848 | CFTR | c.874G>T (p.Glu292Ter) c.*771G>T (n.*771G>T) c.*698G>T (n.*698G>T) c.631G>T (p.Glu211Ter) c.784G>T (p.Glu262Ter) c.964G>T (p.Glu322Ter) | ClinVar dbSNP COSMIC |
| 7 | g.117540105A= | CA1737331800 | CFTR | c.875A= (p.Glu292=) c.*772A= (n.*772A=) c.*699A= (n.*699A=) c.632A= (p.Glu211=) c.785A= (p.Glu262=) c.965A= (p.Glu322=) | |
| 7 | g.117540105A>C | CA368977853 | CFTR | c.875A>C (p.Glu292Ala) c.*772A>C (n.*772A>C) c.*699A>C (n.*699A>C) c.632A>C (p.Glu211Ala) c.785A>C (p.Glu262Ala) c.965A>C (p.Glu322Ala) | |
| 7 | g.117540105A>G | CA368977854 | CFTR | c.875A>G (p.Glu292Gly) c.*772A>G (n.*772A>G) c.*699A>G (n.*699A>G) c.632A>G (p.Glu211Gly) c.785A>G (p.Glu262Gly) c.965A>G (p.Glu322Gly) | ClinVar dbSNP |
| 7 | g.117540105A>T | CA368977855 | CFTR | c.875A>T (p.Glu292Val) c.*772A>T (n.*772A>T) c.*699A>T (n.*699A>T) c.632A>T (p.Glu211Val) c.785A>T (p.Glu262Val) c.965A>T (p.Glu322Val) | |
| 7 | g.117540106A>C | CA368977857 | CFTR | c.876A>C (p.Glu292Asp) c.*773A>C (n.*773A>C) c.*700A>C (n.*700A>C) c.633A>C (p.Glu211Asp) c.786A>C (p.Glu262Asp) c.966A>C (p.Glu322Asp) | |
| 7 | g.117540106A>G | CA457448543 | CFTR | c.876A>G (p.Glu292=) c.*773A>G (n.*773A>G) c.*700A>G (n.*700A>G) c.633A>G (p.Glu211=) c.786A>G (p.Glu262=) c.966A>G (p.Glu322=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540106A>T | CA368977860 | CFTR | c.876A>T (p.Glu292Asp) c.*773A>T (n.*773A>T) c.*700A>T (n.*700A>T) c.633A>T (p.Glu211Asp) c.786A>T (p.Glu262Asp) c.966A>T (p.Glu322Asp) | |
| 7 | g.117540107C>A | CA327680 | CFTR | c.877C>A (p.Leu293Met) c.*774C>A (n.*774C>A) c.*701C>A (n.*701C>A) c.634C>A (p.Leu212Met) c.787C>A (p.Leu263Met) c.967C>A (p.Leu323Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540107C= | CA1737331807 | CFTR | c.877C= (p.Leu293=) c.*774C= (n.*774C=) c.*701C= (n.*701C=) c.634C= (p.Leu212=) c.787C= (p.Leu263=) c.967C= (p.Leu323=) | |
| 7 | g.117540107C>G | CA368977866 | CFTR | c.877C>G (p.Leu293Val) c.*774C>G (n.*774C>G) c.*701C>G (n.*701C>G) c.634C>G (p.Leu212Val) c.787C>G (p.Leu263Val) c.967C>G (p.Leu323Val) | |
| 7 | g.117540107C>T | CA457448545 | CFTR | c.877C>T (p.Leu293=) c.*774C>T (n.*774C>T) c.*701C>T (n.*701C>T) c.634C>T (p.Leu212=) c.787C>T (p.Leu263=) c.967C>T (p.Leu323=) | |
| 7 | g.117540108T>A | CA368977885 | CFTR | c.878T>A (p.Leu293Gln) c.*775T>A (n.*775T>A) c.*702T>A (n.*702T>A) c.635T>A (p.Leu212Gln) c.788T>A (p.Leu263Gln) c.968T>A (p.Leu323Gln) | |
| 7 | g.117540108T>C | CA368977869 | CFTR | c.878T>C (p.Leu293Pro) c.*775T>C (n.*775T>C) c.*702T>C (n.*702T>C) c.635T>C (p.Leu212Pro) c.788T>C (p.Leu263Pro) c.968T>C (p.Leu323Pro) | ClinVar dbSNP |
| 7 | g.117540108T>G | CA368977881 | CFTR | c.878T>G (p.Leu293Arg) c.*775T>G (n.*775T>G) c.*702T>G (n.*702T>G) c.635T>G (p.Leu212Arg) c.788T>G (p.Leu263Arg) c.968T>G (p.Leu323Arg) | ClinVar |
| 7 | g.117540109G>A | CA457448546 | CFTR | c.879G>A (p.Leu293=) c.*776G>A (n.*776G>A) c.*703G>A (n.*703G>A) c.636G>A (p.Leu212=) c.789G>A (p.Leu263=) c.969G>A (p.Leu323=) | dbSNP COSMIC |
| 7 | g.117540109G>C | CA457448548 | CFTR | c.879G>C (p.Leu293=) c.*776G>C (n.*776G>C) c.*703G>C (n.*703G>C) c.636G>C (p.Leu212=) c.789G>C (p.Leu263=) c.969G>C (p.Leu323=) | gnomAD v4 |
| 7 | g.117540109G= | CA1737331812 | CFTR | c.879G= (p.Leu293=) c.*776G= (n.*776G=) c.*703G= (n.*703G=) c.636G= (p.Leu212=) c.789G= (p.Leu263=) c.969G= (p.Leu323=) | |
| 7 | g.117540109G>T | CA457448549 | CFTR | c.879G>T (p.Leu293=) c.*776G>T (n.*776G>T) c.*703G>T (n.*703G>T) c.636G>T (p.Leu212=) c.789G>T (p.Leu263=) c.969G>T (p.Leu323=) | |
| 7 | g.117540109_117540111delinsGAA | CA1737331811 | CFTR | c.879_881delinsGAA (p.Leu293=) c.*776_*778delinsGAA (n.*776_*778delinsGAA) c.*703_*705delinsGAA (n.*703_*705delinsGAA) c.636_638delinsGAA (p.Leu212=) c.789_791delinsGAA (p.Leu263=) c.969_971delinsGAA (p.Leu323=) | |
| 7 | g.117540110A>C | CA368977890 | CFTR | c.880A>C (p.Lys294Gln) c.*777A>C (n.*777A>C) c.*704A>C (n.*704A>C) c.637A>C (p.Lys213Gln) c.790A>C (p.Lys264Gln) c.970A>C (p.Lys324Gln) | |
| 7 | g.117540110A>G | CA368977893 | CFTR | c.880A>G (p.Lys294Glu) c.*777A>G (n.*777A>G) c.*704A>G (n.*704A>G) c.637A>G (p.Lys213Glu) c.790A>G (p.Lys264Glu) c.970A>G (p.Lys324Glu) | |
| 7 | g.117540110A>T | CA368977899 | CFTR | c.880A>T (p.Lys294Ter) c.*777A>T (n.*777A>T) c.*704A>T (n.*704A>T) c.637A>T (p.Lys213Ter) c.790A>T (p.Lys264Ter) c.970A>T (p.Lys324Ter) | |
| 7 | g.117540111_117540112del | CA327682 | CFTR | c.881_882del (p.Lys294ThrfsTer13) c.*778_*779del (n.*778_*779del) c.*705_*706del (n.*705_*706del) c.638_639del (p.Lys213ThrfsTer13) c.791_792del (p.Lys264ThrfsTer13) c.971_972del (p.Lys324ThrfsTer13) | ClinVar dbSNP |
| 7 | g.117540111A>C | CA368977906 | CFTR | c.881A>C (p.Lys294Thr) c.*778A>C (n.*778A>C) c.*705A>C (n.*705A>C) c.638A>C (p.Lys213Thr) c.791A>C (p.Lys264Thr) c.971A>C (p.Lys324Thr) | |
| 7 | g.117540111A>G | CA368977909 | CFTR | c.881A>G (p.Lys294Arg) c.*778A>G (n.*778A>G) c.*705A>G (n.*705A>G) c.638A>G (p.Lys213Arg) c.791A>G (p.Lys264Arg) c.971A>G (p.Lys324Arg) | |
| 7 | g.117540111A>T | CA368977913 | CFTR | c.881A>T (p.Lys294Ile) c.*778A>T (n.*778A>T) c.*705A>T (n.*705A>T) c.638A>T (p.Lys213Ile) c.791A>T (p.Lys264Ile) c.971A>T (p.Lys324Ile) | gnomAD v4 |
| 7 | g.117540112A>C | CA368977915 | CFTR | c.882A>C (p.Lys294Asn) c.*779A>C (n.*779A>C) c.*706A>C (n.*706A>C) c.639A>C (p.Lys213Asn) c.792A>C (p.Lys264Asn) c.972A>C (p.Lys324Asn) | |
| 7 | g.117540112A>G | CA457448552 | CFTR | c.882A>G (p.Lys294=) c.*779A>G (n.*779A>G) c.*706A>G (n.*706A>G) c.639A>G (p.Lys213=) c.792A>G (p.Lys264=) c.972A>G (p.Lys324=) | ClinVar dbSNP |
| 7 | g.117540112A>T | CA368977916 | CFTR | c.882A>T (p.Lys294Asn) c.*779A>T (n.*779A>T) c.*706A>T (n.*706A>T) c.639A>T (p.Lys213Asn) c.792A>T (p.Lys264Asn) c.972A>T (p.Lys324Asn) | |
| 7 | g.117540113C>A | CA368977918 | CFTR | c.883C>A (p.Leu295Met) c.*780C>A (n.*780C>A) c.*707C>A (n.*707C>A) c.640C>A (p.Leu214Met) c.793C>A (p.Leu265Met) c.973C>A (p.Leu325Met) | gnomAD v4 |
| 7 | g.117540113C= | CA1737331817 | CFTR | c.883C= (p.Leu295=) c.*780C= (n.*780C=) c.*707C= (n.*707C=) c.640C= (p.Leu214=) c.793C= (p.Leu265=) c.973C= (p.Leu325=) | |
| 7 | g.117540113C>G | CA368977921 | CFTR | c.883C>G (p.Leu295Val) c.*780C>G (n.*780C>G) c.*707C>G (n.*707C>G) c.640C>G (p.Leu214Val) c.793C>G (p.Leu265Val) c.973C>G (p.Leu325Val) | gnomAD v4 |
| 7 | g.117540113C>T | CA457448554 | CFTR | c.883C>T (p.Leu295=) c.*780C>T (n.*780C>T) c.*707C>T (n.*707C>T) c.640C>T (p.Leu214=) c.793C>T (p.Leu265=) c.973C>T (p.Leu325=) | dbSNP |
| 7 | g.117540114del | CA2695208307 | CFTR | c.884del (p.Leu295ArgfsTer8) c.*781del (n.*781del) c.*708del (n.*708del) c.641del (p.Leu214ArgfsTer8) c.794del (p.Leu265ArgfsTer8) c.974del (p.Leu325ArgfsTer8) | |
| 7 | g.117540114T>A | CA368977927 | CFTR | c.884T>A (p.Leu295Gln) c.*781T>A (n.*781T>A) c.*708T>A (n.*708T>A) c.641T>A (p.Leu214Gln) c.794T>A (p.Leu265Gln) c.974T>A (p.Leu325Gln) | |
| 7 | g.117540114T>C | CA368977925 | CFTR | c.884T>C (p.Leu295Pro) c.*781T>C (n.*781T>C) c.*708T>C (n.*708T>C) c.641T>C (p.Leu214Pro) c.794T>C (p.Leu265Pro) c.974T>C (p.Leu325Pro) | gnomAD v4 |
| 7 | g.117540114T>G | CA368977924 | CFTR | c.884T>G (p.Leu295Arg) c.*781T>G (n.*781T>G) c.*708T>G (n.*708T>G) c.641T>G (p.Leu214Arg) c.794T>G (p.Leu265Arg) c.974T>G (p.Leu325Arg) | |
| 7 | g.117540115G>A | CA457448556 | CFTR | c.885G>A (p.Leu295=) c.*782G>A (n.*782G>A) c.*709G>A (n.*709G>A) c.642G>A (p.Leu214=) c.795G>A (p.Leu265=) c.975G>A (p.Leu325=) | |
| 7 | g.117540115G>C | CA457448558 | CFTR | c.885G>C (p.Leu295=) c.*782G>C (n.*782G>C) c.*709G>C (n.*709G>C) c.642G>C (p.Leu214=) c.795G>C (p.Leu265=) c.975G>C (p.Leu325=) | |
| 7 | g.117540115G= | CA1737331819 | CFTR | c.885G= (p.Leu295=) c.*782G= (n.*782G=) c.*709G= (n.*709G=) c.642G= (p.Leu214=) c.795G= (p.Leu265=) c.975G= (p.Leu325=) | |
| 7 | g.117540115G>T | CA457448560 | CFTR | c.885G>T (p.Leu295=) c.*782G>T (n.*782G>T) c.*709G>T (n.*709G>T) c.642G>T (p.Leu214=) c.795G>T (p.Leu265=) c.975G>T (p.Leu325=) | ClinVar |
| 7 | g.117540115_117540116insTTCT | CA4450859 | CFTR | c.885_886insTTCT (p.Thr296PhefsTer13) c.*782_*783insTTCT (n.*782_*783insTTCT) c.*709_*710insTTCT (n.*709_*710insTTCT) c.642_643insTTCT (p.Thr215PhefsTer13) c.795_796insTTCT (p.Thr266PhefsTer13) c.975_976insTTCT (p.Thr326PhefsTer13) | dbSNP ExAC gnomAD v2 |
| 7 | g.117540116A= | CA1737331821 | CFTR | c.886A= (p.Thr296=) c.*783A= (n.*783A=) c.*710A= (n.*710A=) c.643A= (p.Thr215=) c.796A= (p.Thr266=) c.976A= (p.Thr326=) | |
| 7 | g.117540116A>C | CA368977935 | CFTR | c.886A>C (p.Thr296Pro) c.*783A>C (n.*783A>C) c.*710A>C (n.*710A>C) c.643A>C (p.Thr215Pro) c.796A>C (p.Thr266Pro) c.976A>C (p.Thr326Pro) | |
| 7 | g.117540116A>G | CA368977938 | CFTR | c.886A>G (p.Thr296Ala) c.*783A>G (n.*783A>G) c.*710A>G (n.*710A>G) c.643A>G (p.Thr215Ala) c.796A>G (p.Thr266Ala) c.976A>G (p.Thr326Ala) | |
| 7 | g.117540116A>T | CA368977933 | CFTR | c.886A>T (p.Thr296Ser) c.*783A>T (n.*783A>T) c.*710A>T (n.*710A>T) c.643A>T (p.Thr215Ser) c.796A>T (p.Thr266Ser) c.976A>T (p.Thr326Ser) | |
| 7 | g.117540116_117540117delinsAC | CA1737331822 | CFTR | c.886_887delinsAC (p.Thr296=) c.*783_*784delinsAC (n.*783_*784delinsAC) c.*710_*711delinsAC (n.*710_*711delinsAC) c.643_644delinsAC (p.Thr215=) c.796_797delinsAC (p.Thr266=) c.976_977delinsAC (p.Thr326=) | |
| 7 | g.117540117del | CA4450860 | CFTR | c.887del (p.Thr296IlefsTer7) c.*784del (n.*784del) c.*711del (n.*711del) c.644del (p.Thr215IlefsTer7) c.797del (p.Thr266IlefsTer7) c.977del (p.Thr326IlefsTer7) | dbSNP ExAC gnomAD v2 |
| 7 | g.117540117C>A | CA368977944 | CFTR | c.887C>A (p.Thr296Asn) c.*784C>A (n.*784C>A) c.*711C>A (n.*711C>A) c.644C>A (p.Thr215Asn) c.797C>A (p.Thr266Asn) c.977C>A (p.Thr326Asn) | |
| 7 | g.117540117C>G | CA368977945 | CFTR | c.887C>G (p.Thr296Ser) c.*784C>G (n.*784C>G) c.*711C>G (n.*711C>G) c.644C>G (p.Thr215Ser) c.797C>G (p.Thr266Ser) c.977C>G (p.Thr326Ser) | |
| 7 | g.117540117C>T | CA368977946 | CFTR | c.887C>T (p.Thr296Ile) c.*784C>T (n.*784C>T) c.*711C>T (n.*711C>T) c.644C>T (p.Thr215Ile) c.797C>T (p.Thr266Ile) c.977C>T (p.Thr326Ile) | |
| 7 | g.117540118_117540119dup | CA16041128 | CFTR | c.888_889dup (p.Arg297LeufsTer7) c.*785_*786dup (n.*785_*786dup) c.*712_*713dup (n.*712_*713dup) c.645_646dup (p.Arg216LeufsTer7) c.798_799dup (p.Arg267LeufsTer7) c.978_979dup (p.Arg327LeufsTer7) | ClinVar dbSNP |
| 7 | g.117540118T>A | CA457448563 | CFTR | c.888T>A (p.Thr296=) c.*785T>A (n.*785T>A) c.*712T>A (n.*712T>A) c.645T>A (p.Thr215=) c.798T>A (p.Thr266=) c.978T>A (p.Thr326=) | |
| 7 | g.117540118T>C | CA164953413 | CFTR | c.888T>C (p.Thr296=) c.*785T>C (n.*785T>C) c.*712T>C (n.*712T>C) c.645T>C (p.Thr215=) c.798T>C (p.Thr266=) c.978T>C (p.Thr326=) | dbSNP |
| 7 | g.117540118T>G | CA457448565 | CFTR | c.888T>G (p.Thr296=) c.*785T>G (n.*785T>G) c.*712T>G (n.*712T>G) c.645T>G (p.Thr215=) c.798T>G (p.Thr266=) c.978T>G (p.Thr326=) | |
| 7 | g.117540118T= | CA1737331825 | CFTR | c.888T= (p.Thr296=) c.*785T= (n.*785T=) c.*712T= (n.*712T=) c.645T= (p.Thr215=) c.798T= (p.Thr266=) c.978T= (p.Thr326=) | |
| 7 | g.117540119C>A | CA4450861 | CFTR | c.889C>A (p.Arg297=) c.*786C>A (n.*786C>A) c.*713C>A (n.*713C>A) c.646C>A (p.Arg216=) c.799C>A (p.Arg267=) c.979C>A (p.Arg327=) | dbSNP ExAC gnomAD v2 |
| 7 | g.117540119C= | CA1737331826 | CFTR | c.889C= (p.Arg297=) c.*786C= (n.*786C=) c.*713C= (n.*713C=) c.646C= (p.Arg216=) c.799C= (p.Arg267=) c.979C= (p.Arg327=) | |
| 7 | g.117540119C>G | CA368977955 | CFTR | c.889C>G (p.Arg297Gly) c.*786C>G (n.*786C>G) c.*713C>G (n.*713C>G) c.646C>G (p.Arg216Gly) c.799C>G (p.Arg267Gly) c.979C>G (p.Arg327Gly) | dbSNP |
| 7 | g.117540119C>T | CA327683 | CFTR | c.889C>T (p.Arg297Trp) c.*786C>T (n.*786C>T) c.*713C>T (n.*713C>T) c.646C>T (p.Arg216Trp) c.799C>T (p.Arg267Trp) c.979C>T (p.Arg327Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540120G>A | CA203580 | CFTR | c.890G>A (p.Arg297Gln) c.*787G>A (n.*787G>A) c.*714G>A (n.*714G>A) c.647G>A (p.Arg216Gln) c.800G>A (p.Arg267Gln) c.980G>A (p.Arg327Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540120G>C | CA368977963 | CFTR | c.890G>C (p.Arg297Pro) c.*787G>C (n.*787G>C) c.*714G>C (n.*714G>C) c.647G>C (p.Arg216Pro) c.800G>C (p.Arg267Pro) c.980G>C (p.Arg327Pro) | |
| 7 | g.117540120G= | CA1737331827 | CFTR | c.890G= (p.Arg297=) c.*787G= (n.*787G=) c.*714G= (n.*714G=) c.647G= (p.Arg216=) c.800G= (p.Arg267=) c.980G= (p.Arg327=) | |
| 7 | g.117540120G>T | CA368977965 | CFTR | c.890G>T (p.Arg297Leu) c.*787G>T (n.*787G>T) c.*714G>T (n.*714G>T) c.647G>T (p.Arg216Leu) c.800G>T (p.Arg267Leu) c.980G>T (p.Arg327Leu) | |
| 7 | g.117540121G>A | CA457448569 | CFTR | c.891G>A (p.Arg297=) c.*788G>A (n.*788G>A) c.*715G>A (n.*715G>A) c.648G>A (p.Arg216=) c.801G>A (p.Arg267=) c.981G>A (p.Arg327=) | ClinVar |
| 7 | g.117540121G>C | CA457448570 | CFTR | c.891G>C (p.Arg297=) c.*788G>C (n.*788G>C) c.*715G>C (n.*715G>C) c.648G>C (p.Arg216=) c.801G>C (p.Arg267=) c.981G>C (p.Arg327=) | |
| 7 | g.117540121G>T | CA457448572 | CFTR | c.891G>T (p.Arg297=) c.*788G>T (n.*788G>T) c.*715G>T (n.*715G>T) c.648G>T (p.Arg216=) c.801G>T (p.Arg267=) c.981G>T (p.Arg327=) | |
| 7 | g.117540122A= | CA1737331828 | CFTR | c.892A= (p.Lys298=) c.*789A= (n.*789A=) c.*716A= (n.*716A=) c.649A= (p.Lys217=) c.802A= (p.Lys268=) c.982A= (p.Lys328=) | |
| 7 | g.117540122A>C | CA368977968 | CFTR | c.892A>C (p.Lys298Gln) c.*789A>C (n.*789A>C) c.*716A>C (n.*716A>C) c.649A>C (p.Lys217Gln) c.802A>C (p.Lys268Gln) c.982A>C (p.Lys328Gln) | |
| 7 | g.117540122A>G | CA368977971 | CFTR | c.892A>G (p.Lys298Glu) c.*789A>G (n.*789A>G) c.*716A>G (n.*716A>G) c.649A>G (p.Lys217Glu) c.802A>G (p.Lys268Glu) c.982A>G (p.Lys328Glu) | |
| 7 | g.117540122A>T | CA368977969 | CFTR | c.892A>T (p.Lys298Ter) c.*789A>T (n.*789A>T) c.*716A>T (n.*716A>T) c.649A>T (p.Lys217Ter) c.802A>T (p.Lys268Ter) c.982A>T (p.Lys328Ter) | ClinVar dbSNP |
| 7 | g.117540123A= | CA1737331829 | CFTR | c.893A= (p.Lys298=) c.*790A= (n.*790A=) c.*717A= (n.*717A=) c.650A= (p.Lys217=) c.803A= (p.Lys268=) c.983A= (p.Lys328=) | |
| 7 | g.117540123A>C | CA368977978 | CFTR | c.893A>C (p.Lys298Thr) c.*790A>C (n.*790A>C) c.*717A>C (n.*717A>C) c.650A>C (p.Lys217Thr) c.803A>C (p.Lys268Thr) c.983A>C (p.Lys328Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540123A>G | CA368977981 | CFTR | c.893A>G (p.Lys298Arg) c.*790A>G (n.*790A>G) c.*717A>G (n.*717A>G) c.650A>G (p.Lys217Arg) c.803A>G (p.Lys268Arg) c.983A>G (p.Lys328Arg) | |
| 7 | g.117540123A>T | CA368977984 | CFTR | c.893A>T (p.Lys298Met) c.*790A>T (n.*790A>T) c.*717A>T (n.*717A>T) c.650A>T (p.Lys217Met) c.803A>T (p.Lys268Met) c.983A>T (p.Lys328Met) | |
| 7 | g.117540124G>A | CA457448575 | CFTR | c.894G>A (p.Lys298=) c.*791G>A (n.*791G>A) c.*718G>A (n.*718G>A) c.651G>A (p.Lys217=) c.804G>A (p.Lys268=) c.984G>A (p.Lys328=) | ClinVar |
| 7 | g.117540124G>C | CA368977988 | CFTR | c.894G>C (p.Lys298Asn) c.*791G>C (n.*791G>C) c.*718G>C (n.*718G>C) c.651G>C (p.Lys217Asn) c.804G>C (p.Lys268Asn) c.984G>C (p.Lys328Asn) | |
| 7 | g.117540124G>T | CA368977990 | CFTR | c.894G>T (p.Lys298Asn) c.*791G>T (n.*791G>T) c.*718G>T (n.*718G>T) c.651G>T (p.Lys217Asn) c.804G>T (p.Lys268Asn) c.984G>T (p.Lys328Asn) | |
| 7 | g.117540125G>A | CA368977993 | CFTR | c.895G>A (p.Ala299Thr) c.*792G>A (n.*792G>A) c.*719G>A (n.*719G>A) c.652G>A (p.Ala218Thr) c.805G>A (p.Ala269Thr) c.985G>A (p.Ala329Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540125G>C | CA368977996 | CFTR | c.895G>C (p.Ala299Pro) c.*792G>C (n.*792G>C) c.*719G>C (n.*719G>C) c.652G>C (p.Ala218Pro) c.805G>C (p.Ala269Pro) c.985G>C (p.Ala329Pro) | |
| 7 | g.117540125G= | CA1737331830 | CFTR | c.895G= (p.Ala299=) c.*792G= (n.*792G=) c.*719G= (n.*719G=) c.652G= (p.Ala218=) c.805G= (p.Ala269=) c.985G= (p.Ala329=) | |
| 7 | g.117540125G>T | CA368977999 | CFTR | c.895G>T (p.Ala299Ser) c.*792G>T (n.*792G>T) c.*719G>T (n.*719G>T) c.652G>T (p.Ala218Ser) c.805G>T (p.Ala269Ser) c.985G>T (p.Ala329Ser) | |
| 7 | g.117540126C>A | CA368978002 | CFTR | c.896C>A (p.Ala299Glu) c.*793C>A (n.*793C>A) c.*720C>A (n.*720C>A) c.653C>A (p.Ala218Glu) c.806C>A (p.Ala269Glu) c.986C>A (p.Ala329Glu) | dbSNP |
| 7 | g.117540126C= | CA1737331831 | CFTR | c.896C= (p.Ala299=) c.*793C= (n.*793C=) c.*720C= (n.*720C=) c.653C= (p.Ala218=) c.806C= (p.Ala269=) c.986C= (p.Ala329=) | |
| 7 | g.117540126C>G | CA368978006 | CFTR | c.896C>G (p.Ala299Gly) c.*793C>G (n.*793C>G) c.*720C>G (n.*720C>G) c.653C>G (p.Ala218Gly) c.806C>G (p.Ala269Gly) c.986C>G (p.Ala329Gly) | |
| 7 | g.117540126C>T | CA368978007 | CFTR | c.896C>T (p.Ala299Val) c.*793C>T (n.*793C>T) c.*720C>T (n.*720C>T) c.653C>T (p.Ala218Val) c.806C>T (p.Ala269Val) c.986C>T (p.Ala329Val) | ClinVar gnomAD v4 |
| 7 | g.117540127A= | CA1737331832 | CFTR | c.897A= (p.Ala299=) c.*794A= (n.*794A=) c.*721A= (n.*721A=) c.654A= (p.Ala218=) c.807A= (p.Ala269=) c.987A= (p.Ala329=) | |
| 7 | g.117540127A>C | CA457448580 | CFTR | c.897A>C (p.Ala299=) c.*794A>C (n.*794A>C) c.*721A>C (n.*721A>C) c.654A>C (p.Ala218=) c.807A>C (p.Ala269=) c.987A>C (p.Ala329=) | gnomAD v4 |
| 7 | g.117540127A>G | CA457448581 | CFTR | c.897A>G (p.Ala299=) c.*794A>G (n.*794A>G) c.*721A>G (n.*721A>G) c.654A>G (p.Ala218=) c.807A>G (p.Ala269=) c.987A>G (p.Ala329=) | |
| 7 | g.117540127A>T | CA164953432 | CFTR | c.897A>T (p.Ala299=) c.*794A>T (n.*794A>T) c.*721A>T (n.*721A>T) c.654A>T (p.Ala218=) c.807A>T (p.Ala269=) c.987A>T (p.Ala329=) | dbSNP |
| 7 | g.117540128G>A | CA368978012 | CFTR | c.898G>A (p.Ala300Thr) c.*795G>A (n.*795G>A) c.*722G>A (n.*722G>A) c.655G>A (p.Ala219Thr) c.808G>A (p.Ala270Thr) c.988G>A (p.Ala330Thr) | |
| 7 | g.117540128G>C | CA368978008 | CFTR | c.898G>C (p.Ala300Pro) c.*795G>C (n.*795G>C) c.*722G>C (n.*722G>C) c.655G>C (p.Ala219Pro) c.808G>C (p.Ala270Pro) c.988G>C (p.Ala330Pro) | |
| 7 | g.117540128G>T | CA368978010 | CFTR | c.898G>T (p.Ala300Ser) c.*795G>T (n.*795G>T) c.*722G>T (n.*722G>T) c.655G>T (p.Ala219Ser) c.808G>T (p.Ala270Ser) c.988G>T (p.Ala330Ser) | |
| 7 | g.117540129C>A | CA368978014 | CFTR | c.899C>A (p.Ala300Asp) c.*796C>A (n.*796C>A) c.*723C>A (n.*723C>A) c.656C>A (p.Ala219Asp) c.809C>A (p.Ala270Asp) c.989C>A (p.Ala330Asp) | gnomAD v4 |
| 7 | g.117540129C= | CA1737331833 | CFTR | c.899C= (p.Ala300=) c.*796C= (n.*796C=) c.*723C= (n.*723C=) c.656C= (p.Ala219=) c.809C= (p.Ala270=) c.989C= (p.Ala330=) | |
| 7 | g.117540129C>G | CA164953433 | CFTR | c.899C>G (p.Ala300Gly) c.*796C>G (n.*796C>G) c.*723C>G (n.*723C>G) c.656C>G (p.Ala219Gly) c.809C>G (p.Ala270Gly) c.989C>G (p.Ala330Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540129C>T | CA368978017 | CFTR | c.899C>T (p.Ala300Val) c.*796C>T (n.*796C>T) c.*723C>T (n.*723C>T) c.656C>T (p.Ala219Val) c.809C>T (p.Ala270Val) c.989C>T (p.Ala330Val) | gnomAD v4 |
| 7 | g.117540130C>A | CA164953439 | CFTR | c.900C>A (p.Ala300=) c.*797C>A (n.*797C>A) c.*724C>A (n.*724C>A) c.657C>A (p.Ala219=) c.810C>A (p.Ala270=) c.990C>A (p.Ala330=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540130C= | CA1737331834 | CFTR | c.900C= (p.Ala300=) c.*797C= (n.*797C=) c.*724C= (n.*724C=) c.657C= (p.Ala219=) c.810C= (p.Ala270=) c.990C= (p.Ala330=) | |
| 7 | g.117540130C>G | CA457448584 | CFTR | c.900C>G (p.Ala300=) c.*797C>G (n.*797C>G) c.*724C>G (n.*724C>G) c.657C>G (p.Ala219=) c.810C>G (p.Ala270=) c.990C>G (p.Ala330=) | |
| 7 | g.117540130C>T | CA457448585 | CFTR | c.900C>T (p.Ala300=) c.*797C>T (n.*797C>T) c.*724C>T (n.*724C>T) c.657C>T (p.Ala219=) c.810C>T (p.Ala270=) c.990C>T (p.Ala330=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540131T>A | CA368978027 | CFTR | c.901T>A (p.Tyr301Asn) c.*798T>A (n.*798T>A) c.*725T>A (n.*725T>A) c.658T>A (p.Tyr220Asn) c.811T>A (p.Tyr271Asn) c.991T>A (p.Tyr331Asn) | |
| 7 | g.117540131T>C | CA368978024 | CFTR | c.901T>C (p.Tyr301His) c.*798T>C (n.*798T>C) c.*725T>C (n.*725T>C) c.658T>C (p.Tyr220His) c.811T>C (p.Tyr271His) c.991T>C (p.Tyr331His) | ClinVar |
| 7 | g.117540131T>G | CA368978025 | CFTR | c.901T>G (p.Tyr301Asp) c.*798T>G (n.*798T>G) c.*725T>G (n.*725T>G) c.658T>G (p.Tyr220Asp) c.811T>G (p.Tyr271Asp) c.991T>G (p.Tyr331Asp) | |
| 7 | g.117540132A= | CA1737331838 | CFTR | c.902A= (p.Tyr301=) c.*799A= (n.*799A=) c.*726A= (n.*726A=) c.659A= (p.Tyr220=) c.812A= (p.Tyr271=) c.992A= (p.Tyr331=) | |
| 7 | g.117540132A>C | CA368978030 | CFTR | c.902A>C (p.Tyr301Ser) c.*799A>C (n.*799A>C) c.*726A>C (n.*726A>C) c.659A>C (p.Tyr220Ser) c.812A>C (p.Tyr271Ser) c.992A>C (p.Tyr331Ser) | |
| 7 | g.117540132A>G | CA247544 | CFTR | c.902A>G (p.Tyr301Cys) c.*799A>G (n.*799A>G) c.*726A>G (n.*726A>G) c.659A>G (p.Tyr220Cys) c.812A>G (p.Tyr271Cys) c.992A>G (p.Tyr331Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540132A>T | CA368978033 | CFTR | c.902A>T (p.Tyr301Phe) c.*799A>T (n.*799A>T) c.*726A>T (n.*726A>T) c.659A>T (p.Tyr220Phe) c.812A>T (p.Tyr271Phe) c.992A>T (p.Tyr331Phe) | |
| 7 | g.117540132dup | CA2580076438 | CFTR | c.902dup (p.Tyr301Ter) c.*799dup (n.*799dup) c.*726dup (n.*726dup) c.659dup (p.Tyr220Ter) c.812dup (p.Tyr271Ter) c.992dup (p.Tyr331Ter) | ClinVar |
| 7 | g.117540133T>A | CA368978041 | CFTR | c.903T>A (p.Tyr301Ter) c.*800T>A (n.*800T>A) c.*727T>A (n.*727T>A) c.660T>A (p.Tyr220Ter) c.813T>A (p.Tyr271Ter) c.993T>A (p.Tyr331Ter) | |
| 7 | g.117540133T>C | CA457448588 | CFTR | c.903T>C (p.Tyr301=) c.*800T>C (n.*800T>C) c.*727T>C (n.*727T>C) c.660T>C (p.Tyr220=) c.813T>C (p.Tyr271=) c.993T>C (p.Tyr331=) | |
| 7 | g.117540133T>G | CA368978044 | CFTR | c.903T>G (p.Tyr301Ter) c.*800T>G (n.*800T>G) c.*727T>G (n.*727T>G) c.660T>G (p.Tyr220Ter) c.813T>G (p.Tyr271Ter) c.993T>G (p.Tyr331Ter) | |
| 7 | g.117540134G>A | CA368978048 | CFTR | c.904G>A (p.Val302Met) c.*801G>A (n.*801G>A) c.*728G>A (n.*728G>A) c.661G>A (p.Val221Met) c.814G>A (p.Val272Met) c.994G>A (p.Val332Met) | gnomAD v4 |
| 7 | g.117540134G>C | CA368978056 | CFTR | c.904G>C (p.Val302Leu) c.*801G>C (n.*801G>C) c.*728G>C (n.*728G>C) c.661G>C (p.Val221Leu) c.814G>C (p.Val272Leu) c.994G>C (p.Val332Leu) | |
| 7 | g.117540134G>T | CA368978053 | CFTR | c.904G>T (p.Val302Leu) c.*801G>T (n.*801G>T) c.*728G>T (n.*728G>T) c.661G>T (p.Val221Leu) c.814G>T (p.Val272Leu) c.994G>T (p.Val332Leu) | |
| 7 | g.117540135T>A | CA368978061 | CFTR | c.905T>A (p.Val302Glu) c.*802T>A (n.*802T>A) c.*729T>A (n.*729T>A) c.662T>A (p.Val221Glu) c.815T>A (p.Val272Glu) c.995T>A (p.Val332Glu) | ClinVar |
| 7 | g.117540135T>C | CA368978070 | CFTR | c.905T>C (p.Val302Ala) c.*802T>C (n.*802T>C) c.*729T>C (n.*729T>C) c.662T>C (p.Val221Ala) c.815T>C (p.Val272Ala) c.995T>C (p.Val332Ala) | ClinVar dbSNP |
| 7 | g.117540135T>G | CA368978073 | CFTR | c.905T>G (p.Val302Gly) c.*802T>G (n.*802T>G) c.*729T>G (n.*729T>G) c.662T>G (p.Val221Gly) c.815T>G (p.Val272Gly) c.995T>G (p.Val332Gly) | gnomAD v4 |
| 7 | g.117540135T= | CA1737331841 | CFTR | c.905T= (p.Val302=) c.*802T= (n.*802T=) c.*729T= (n.*729T=) c.662T= (p.Val221=) c.815T= (p.Val272=) c.995T= (p.Val332=) | |
| 7 | g.117540136G>A | CA457448591 | CFTR | c.906G>A (p.Val302=) c.*803G>A (n.*803G>A) c.*730G>A (n.*730G>A) c.663G>A (p.Val221=) c.816G>A (p.Val272=) c.996G>A (p.Val332=) | |
| 7 | g.117540136G>C | CA457448592 | CFTR | c.906G>C (p.Val302=) c.*803G>C (n.*803G>C) c.*730G>C (n.*730G>C) c.663G>C (p.Val221=) c.816G>C (p.Val272=) c.996G>C (p.Val332=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540136G>T | CA457448593 | CFTR | c.906G>T (p.Val302=) c.*803G>T (n.*803G>T) c.*730G>T (n.*730G>T) c.663G>T (p.Val221=) c.816G>T (p.Val272=) c.996G>T (p.Val332=) | |
| 7 | g.117540137A>C | CA457448594 | CFTR | c.907A>C (p.Arg303=) c.*804A>C (n.*804A>C) c.*731A>C (n.*731A>C) c.664A>C (p.Arg222=) c.817A>C (p.Arg273=) c.997A>C (p.Arg333=) | |
| 7 | g.117540137A>G | CA368978075 | CFTR | c.907A>G (p.Arg303Gly) c.*804A>G (n.*804A>G) c.*731A>G (n.*731A>G) c.664A>G (p.Arg222Gly) c.817A>G (p.Arg273Gly) c.997A>G (p.Arg333Gly) | |
| 7 | g.117540137A>T | CA368978082 | CFTR | c.907A>T (p.Arg303Ter) c.*804A>T (n.*804A>T) c.*731A>T (n.*731A>T) c.664A>T (p.Arg222Ter) c.817A>T (p.Arg273Ter) c.997A>T (p.Arg333Ter) | |
| 7 | g.117540138G>A | CA368978087 | CFTR | c.908G>A (p.Arg303Lys) c.*805G>A (n.*805G>A) c.*732G>A (n.*732G>A) c.665G>A (p.Arg222Lys) c.818G>A (p.Arg273Lys) c.998G>A (p.Arg333Lys) | |
| 7 | g.117540138G>C | CA368978090 | CFTR | c.908G>C (p.Arg303Thr) c.*805G>C (n.*805G>C) c.*732G>C (n.*732G>C) c.665G>C (p.Arg222Thr) c.818G>C (p.Arg273Thr) c.998G>C (p.Arg333Thr) | |
| 7 | g.117540138G>T | CA368978091 | CFTR | c.908G>T (p.Arg303Ile) c.*805G>T (n.*805G>T) c.*732G>T (n.*732G>T) c.665G>T (p.Arg222Ile) c.818G>T (p.Arg273Ile) c.998G>T (p.Arg333Ile) | gnomAD v4 |
| 7 | g.117540139A= | CA1737331842 | CFTR | c.909A= (p.Arg303=) c.*806A= (n.*806A=) c.*733A= (n.*733A=) c.666A= (p.Arg222=) c.819A= (p.Arg273=) c.999A= (p.Arg333=) | |
| 7 | g.117540139A>C | CA368978095 | CFTR | c.909A>C (p.Arg303Ser) c.*806A>C (n.*806A>C) c.*733A>C (n.*733A>C) c.666A>C (p.Arg222Ser) c.819A>C (p.Arg273Ser) c.999A>C (p.Arg333Ser) | |
| 7 | g.117540139A>G | CA457448597 | CFTR | c.909A>G (p.Arg303=) c.*806A>G (n.*806A>G) c.*733A>G (n.*733A>G) c.666A>G (p.Arg222=) c.819A>G (p.Arg273=) c.999A>G (p.Arg333=) | |
| 7 | g.117540139A>T | CA368978100 | CFTR | c.909A>T (p.Arg303Ser) c.*806A>T (n.*806A>T) c.*733A>T (n.*733A>T) c.666A>T (p.Arg222Ser) c.819A>T (p.Arg273Ser) c.999A>T (p.Arg333Ser) | |
| 7 | g.117540140T>A | CA368978112 | CFTR | c.910T>A (p.Tyr304Asn) c.*807T>A (n.*807T>A) c.*734T>A (n.*734T>A) c.667T>A (p.Tyr223Asn) c.820T>A (p.Tyr274Asn) c.1000T>A (p.Tyr334Asn) | |
| 7 | g.117540140T>C | CA368978107 | CFTR | c.910T>C (p.Tyr304His) c.*807T>C (n.*807T>C) c.*734T>C (n.*734T>C) c.667T>C (p.Tyr223His) c.820T>C (p.Tyr274His) c.1000T>C (p.Tyr334His) | |
| 7 | g.117540140T>G | CA368978104 | CFTR | c.910T>G (p.Tyr304Asp) c.*807T>G (n.*807T>G) c.*734T>G (n.*734T>G) c.667T>G (p.Tyr223Asp) c.820T>G (p.Tyr274Asp) c.1000T>G (p.Tyr334Asp) | |
| 7 | g.117540141_117540143dup | CA577678369 | CFTR | c.911_913dup (p.Tyr304_Phe305insTyr) c.*808_*810dup (n.*808_*810dup) c.*735_*737dup (n.*735_*737dup) c.668_670dup (p.Tyr223_Phe224insTyr) c.821_823dup (p.Tyr274_Phe275insTyr) c.1001_1003dup (p.Tyr334_Phe335insTyr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540141A= | CA1737331845 | CFTR | c.911A= (p.Tyr304=) c.*808A= (n.*808A=) c.*735A= (n.*735A=) c.668A= (p.Tyr223=) c.821A= (p.Tyr274=) c.1001A= (p.Tyr334=) | |
| 7 | g.117540141A>C | CA368978114 | CFTR | c.911A>C (p.Tyr304Ser) c.*808A>C (n.*808A>C) c.*735A>C (n.*735A>C) c.668A>C (p.Tyr223Ser) c.821A>C (p.Tyr274Ser) c.1001A>C (p.Tyr334Ser) | ClinVar dbSNP |
| 7 | g.117540141A>G | CA368978123 | CFTR | c.911A>G (p.Tyr304Cys) c.*808A>G (n.*808A>G) c.*735A>G (n.*735A>G) c.668A>G (p.Tyr223Cys) c.821A>G (p.Tyr274Cys) c.1001A>G (p.Tyr334Cys) | |
| 7 | g.117540141A>T | CA368978120 | CFTR | c.911A>T (p.Tyr304Phe) c.*808A>T (n.*808A>T) c.*735A>T (n.*735A>T) c.668A>T (p.Tyr223Phe) c.821A>T (p.Tyr274Phe) c.1001A>T (p.Tyr334Phe) | |
| 7 | g.117540142C>A | CA368978129 | CFTR | c.912C>A (p.Tyr304Ter) c.*809C>A (n.*809C>A) c.*736C>A (n.*736C>A) c.669C>A (p.Tyr223Ter) c.822C>A (p.Tyr274Ter) c.1002C>A (p.Tyr334Ter) | |
| 7 | g.117540142C= | CA1737331846 | CFTR | c.912C= (p.Tyr304=) c.*809C= (n.*809C=) c.*736C= (n.*736C=) c.669C= (p.Tyr223=) c.822C= (p.Tyr274=) c.1002C= (p.Tyr334=) | |
| 7 | g.117540142C>G | CA327687 | CFTR | c.912C>G (p.Tyr304Ter) c.*809C>G (n.*809C>G) c.*736C>G (n.*736C>G) c.669C>G (p.Tyr223Ter) c.822C>G (p.Tyr274Ter) c.1002C>G (p.Tyr334Ter) | ClinVar dbSNP |
| 7 | g.117540142C>T | CA4450862 | CFTR | c.912C>T (p.Tyr304=) c.*809C>T (n.*809C>T) c.*736C>T (n.*736C>T) c.669C>T (p.Tyr223=) c.822C>T (p.Tyr274=) c.1002C>T (p.Tyr334=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540143T>A | CA368978138 | CFTR | c.913T>A (p.Phe305Ile) c.*810T>A (n.*810T>A) c.*737T>A (n.*737T>A) c.670T>A (p.Phe224Ile) c.823T>A (p.Phe275Ile) c.1003T>A (p.Phe335Ile) | |
| 7 | g.117540143T>C | CA368978139 | CFTR | c.913T>C (p.Phe305Leu) c.*810T>C (n.*810T>C) c.*737T>C (n.*737T>C) c.670T>C (p.Phe224Leu) c.823T>C (p.Phe275Leu) c.1003T>C (p.Phe335Leu) | |
| 7 | g.117540143T>G | CA327689 | CFTR | c.913T>G (p.Phe305Val) c.*810T>G (n.*810T>G) c.*737T>G (n.*737T>G) c.670T>G (p.Phe224Val) c.823T>G (p.Phe275Val) c.1003T>G (p.Phe335Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540143T= | CA1737331852 | CFTR | c.913T= (p.Phe305=) c.*810T= (n.*810T=) c.*737T= (n.*737T=) c.670T= (p.Phe224=) c.823T= (p.Phe275=) c.1003T= (p.Phe335=) | |
| 7 | g.117540144T>A | CA368978150 | CFTR | c.914T>A (p.Phe305Tyr) c.*811T>A (n.*811T>A) c.*738T>A (n.*738T>A) c.671T>A (p.Phe224Tyr) c.824T>A (p.Phe275Tyr) c.1004T>A (p.Phe335Tyr) | |
| 7 | g.117540144T>C | CA368978148 | CFTR | c.914T>C (p.Phe305Ser) c.*811T>C (n.*811T>C) c.*738T>C (n.*738T>C) c.671T>C (p.Phe224Ser) c.824T>C (p.Phe275Ser) c.1004T>C (p.Phe335Ser) | |
| 7 | g.117540144T>G | CA368978146 | CFTR | c.914T>G (p.Phe305Cys) c.*811T>G (n.*811T>G) c.*738T>G (n.*738T>G) c.671T>G (p.Phe224Cys) c.824T>G (p.Phe275Cys) c.1004T>G (p.Phe335Cys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540144T= | CA1737331854 | CFTR | c.914T= (p.Phe305=) c.*811T= (n.*811T=) c.*738T= (n.*738T=) c.671T= (p.Phe224=) c.824T= (p.Phe275=) c.1004T= (p.Phe335=) | |
| 7 | g.117540145C>A | CA368978151 | CFTR | c.915C>A (p.Phe305Leu) c.*812C>A (n.*812C>A) c.*739C>A (n.*739C>A) c.672C>A (p.Phe224Leu) c.825C>A (p.Phe275Leu) c.1005C>A (p.Phe335Leu) | |
| 7 | g.117540145C= | CA1737331857 | CFTR | c.915C= (p.Phe305=) c.*812C= (n.*812C=) c.*739C= (n.*739C=) c.672C= (p.Phe224=) c.825C= (p.Phe275=) c.1005C= (p.Phe335=) | |
| 7 | g.117540145C>G | CA368978153 | CFTR | c.915C>G (p.Phe305Leu) c.*812C>G (n.*812C>G) c.*739C>G (n.*739C>G) c.672C>G (p.Phe224Leu) c.825C>G (p.Phe275Leu) c.1005C>G (p.Phe335Leu) | ClinVar |
| 7 | g.117540145C>T | CA164953477 | CFTR | c.915C>T (p.Phe305=) c.*812C>T (n.*812C>T) c.*739C>T (n.*739C>T) c.672C>T (p.Phe224=) c.825C>T (p.Phe275=) c.1005C>T (p.Phe335=) | dbSNP gnomAD v4 |
| 7 | g.117540145_117540146del | CA2580076442 | CFTR | c.915_916del (p.Phe305LeufsTer2) c.*812_*813del (n.*812_*813del) c.*739_*740del (n.*739_*740del) c.672_673del (p.Phe224LeufsTer2) c.825_826del (p.Phe275LeufsTer2) c.1005_1006del (p.Phe335LeufsTer2) | ClinVar |
| 7 | g.117540146A>C | CA368978158 | CFTR | c.916A>C (p.Asn306His) c.*813A>C (n.*813A>C) c.*740A>C (n.*740A>C) c.673A>C (p.Asn225His) c.826A>C (p.Asn276His) c.1006A>C (p.Asn336His) | |
| 7 | g.117540146A>G | CA368978161 | CFTR | c.916A>G (p.Asn306Asp) c.*813A>G (n.*813A>G) c.*740A>G (n.*740A>G) c.673A>G (p.Asn225Asp) c.826A>G (p.Asn276Asp) c.1006A>G (p.Asn336Asp) | |
| 7 | g.117540146A>T | CA368978162 | CFTR | c.916A>T (p.Asn306Tyr) c.*813A>T (n.*813A>T) c.*740A>T (n.*740A>T) c.673A>T (p.Asn225Tyr) c.826A>T (p.Asn276Tyr) c.1006A>T (p.Asn336Tyr) | gnomAD v4 |
| 7 | g.117540147A= | CA1737331858 | CFTR | c.917A= (p.Asn306=) c.*814A= (n.*814A=) c.*741A= (n.*741A=) c.674A= (p.Asn225=) c.827A= (p.Asn276=) c.1007A= (p.Asn336=) | |
| 7 | g.117540147A>C | CA368978169 | CFTR | c.917A>C (p.Asn306Thr) c.*814A>C (n.*814A>C) c.*741A>C (n.*741A>C) c.674A>C (p.Asn225Thr) c.827A>C (p.Asn276Thr) c.1007A>C (p.Asn336Thr) | |
| 7 | g.117540147A>G | CA4450863 | CFTR | c.917A>G (p.Asn306Ser) c.*814A>G (n.*814A>G) c.*741A>G (n.*741A>G) c.674A>G (p.Asn225Ser) c.827A>G (p.Asn276Ser) c.1007A>G (p.Asn336Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540147A>T | CA368978171 | CFTR | c.917A>T (p.Asn306Ile) c.*814A>T (n.*814A>T) c.*741A>T (n.*741A>T) c.674A>T (p.Asn225Ile) c.827A>T (p.Asn276Ile) c.1007A>T (p.Asn336Ile) | |
| 7 | g.117540148T>A | CA368978176 | CFTR | c.918T>A (p.Asn306Lys) c.*815T>A (n.*815T>A) c.*742T>A (n.*742T>A) c.675T>A (p.Asn225Lys) c.828T>A (p.Asn276Lys) c.1008T>A (p.Asn336Lys) | |
| 7 | g.117540148T>C | CA164953478 | CFTR | c.918T>C (p.Asn306=) c.*815T>C (n.*815T>C) c.*742T>C (n.*742T>C) c.675T>C (p.Asn225=) c.828T>C (p.Asn276=) c.1008T>C (p.Asn336=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540148T>G | CA368978179 | CFTR | c.918T>G (p.Asn306Lys) c.*815T>G (n.*815T>G) c.*742T>G (n.*742T>G) c.675T>G (p.Asn225Lys) c.828T>G (p.Asn276Lys) c.1008T>G (p.Asn336Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540148T= | CA1737331862 | CFTR | c.918T= (p.Asn306=) c.*815T= (n.*815T=) c.*742T= (n.*742T=) c.675T= (p.Asn225=) c.828T= (p.Asn276=) c.1008T= (p.Asn336=) | |
| 7 | g.117540149A>C | CA368978182 | CFTR | c.919A>C (p.Ser307Arg) c.*816A>C (n.*816A>C) c.*743A>C (n.*743A>C) c.676A>C (p.Ser226Arg) c.829A>C (p.Ser277Arg) c.1009A>C (p.Ser337Arg) | |
| 7 | g.117540149A>G | CA368978186 | CFTR | c.919A>G (p.Ser307Gly) c.*816A>G (n.*816A>G) c.*743A>G (n.*743A>G) c.676A>G (p.Ser226Gly) c.829A>G (p.Ser277Gly) c.1009A>G (p.Ser337Gly) | |
| 7 | g.117540149A>T | CA368978192 | CFTR | c.919A>T (p.Ser307Cys) c.*816A>T (n.*816A>T) c.*743A>T (n.*743A>T) c.676A>T (p.Ser226Cys) c.829A>T (p.Ser277Cys) c.1009A>T (p.Ser337Cys) | |
| 7 | g.117540152_117540156del | CA2573141557 | CFTR | c.922_926del (p.Ser308LeufsTer?) c.*819_*823del (n.*819_*823del) c.*746_*750del (n.*746_*750del) c.679_683del (p.Ser227LeufsTer?) c.832_836del (p.Ser278LeufsTer?) c.1012_1016del (p.Ser338LeufsTer?) | ClinVar dbSNP |