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.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 |
| 7 | g.117540150G>A | CA327691 | CFTR | c.920G>A (p.Ser307Asn) c.*817G>A (n.*817G>A) c.*744G>A (n.*744G>A) c.677G>A (p.Ser226Asn) c.830G>A (p.Ser277Asn) c.1010G>A (p.Ser337Asn) | ClinVar dbSNP |
| 7 | g.117540150G>C | CA368978204 | CFTR | c.920G>C (p.Ser307Thr) c.*817G>C (n.*817G>C) c.*744G>C (n.*744G>C) c.677G>C (p.Ser226Thr) c.830G>C (p.Ser277Thr) c.1010G>C (p.Ser337Thr) | |
| 7 | g.117540150G= | CA1737331863 | CFTR | c.920G= (p.Ser307=) c.*817G= (n.*817G=) c.*744G= (n.*744G=) c.677G= (p.Ser226=) c.830G= (p.Ser277=) c.1010G= (p.Ser337=) | |
| 7 | g.117540150G>T | CA368978207 | CFTR | c.920G>T (p.Ser307Ile) c.*817G>T (n.*817G>T) c.*744G>T (n.*744G>T) c.677G>T (p.Ser226Ile) c.830G>T (p.Ser277Ile) c.1010G>T (p.Ser337Ile) | ClinVar |
| 7 | g.117540151C>A | CA368978211 | CFTR | c.921C>A (p.Ser307Arg) c.*818C>A (n.*818C>A) c.*745C>A (n.*745C>A) c.678C>A (p.Ser226Arg) c.831C>A (p.Ser277Arg) c.1011C>A (p.Ser337Arg) | |
| 7 | g.117540151C= | CA1737331866 | CFTR | c.921C= (p.Ser307=) c.*818C= (n.*818C=) c.*745C= (n.*745C=) c.678C= (p.Ser226=) c.831C= (p.Ser277=) c.1011C= (p.Ser337=) | |
| 7 | g.117540151C>G | CA368978215 | CFTR | c.921C>G (p.Ser307Arg) c.*818C>G (n.*818C>G) c.*745C>G (n.*745C>G) c.678C>G (p.Ser226Arg) c.831C>G (p.Ser277Arg) c.1011C>G (p.Ser337Arg) | gnomAD v4 |
| 7 | g.117540151C>T | CA457448603 | CFTR | c.921C>T (p.Ser307=) c.*818C>T (n.*818C>T) c.*745C>T (n.*745C>T) c.678C>T (p.Ser226=) c.831C>T (p.Ser277=) c.1011C>T (p.Ser337=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540152T>A | CA368978221 | CFTR | c.922T>A (p.Ser308Thr) c.*819T>A (n.*819T>A) c.*746T>A (n.*746T>A) c.679T>A (p.Ser227Thr) c.832T>A (p.Ser278Thr) c.1012T>A (p.Ser338Thr) | |
| 7 | g.117540152T>C | CA368978223 | CFTR | c.922T>C (p.Ser308Pro) c.*819T>C (n.*819T>C) c.*746T>C (n.*746T>C) c.679T>C (p.Ser227Pro) c.832T>C (p.Ser278Pro) c.1012T>C (p.Ser338Pro) | |
| 7 | g.117540152T>G | CA368978222 | CFTR | c.922T>G (p.Ser308Ala) c.*819T>G (n.*819T>G) c.*746T>G (n.*746T>G) c.679T>G (p.Ser227Ala) c.832T>G (p.Ser278Ala) c.1012T>G (p.Ser338Ala) | |
| 7 | g.117540153C>A | CA368978225 | CFTR | c.923C>A (p.Ser308Ter) c.*820C>A (n.*820C>A) c.*747C>A (n.*747C>A) c.680C>A (p.Ser227Ter) c.833C>A (p.Ser278Ter) c.1013C>A (p.Ser338Ter) | |
| 7 | g.117540153C= | CA1737331868 | CFTR | c.923C= (p.Ser308=) c.*820C= (n.*820C=) c.*747C= (n.*747C=) c.680C= (p.Ser227=) c.833C= (p.Ser278=) c.1013C= (p.Ser338=) | |
| 7 | g.117540153C>G | CA368978226 | CFTR | c.923C>G (p.Ser308Ter) c.*820C>G (n.*820C>G) c.*747C>G (n.*747C>G) c.680C>G (p.Ser227Ter) c.833C>G (p.Ser278Ter) c.1013C>G (p.Ser338Ter) | |
| 7 | g.117540153C>T | CA368978228 | CFTR | c.923C>T (p.Ser308Leu) c.*820C>T (n.*820C>T) c.*747C>T (n.*747C>T) c.680C>T (p.Ser227Leu) c.833C>T (p.Ser278Leu) c.1013C>T (p.Ser338Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540154A= | CA1737331870 | CFTR | c.924A= (p.Ser308=) c.*821A= (n.*821A=) c.*748A= (n.*748A=) c.681A= (p.Ser227=) c.834A= (p.Ser278=) c.1014A= (p.Ser338=) | |
| 7 | g.117540154A>C | CA457448606 | CFTR | c.924A>C (p.Ser308=) c.*821A>C (n.*821A>C) c.*748A>C (n.*748A>C) c.681A>C (p.Ser227=) c.834A>C (p.Ser278=) c.1014A>C (p.Ser338=) | |
| 7 | g.117540154A>G | CA457448607 | CFTR | c.924A>G (p.Ser308=) c.*821A>G (n.*821A>G) c.*748A>G (n.*748A>G) c.681A>G (p.Ser227=) c.834A>G (p.Ser278=) c.1014A>G (p.Ser338=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540154A>T | CA457448608 | CFTR | c.924A>T (p.Ser308=) c.*821A>T (n.*821A>T) c.*748A>T (n.*748A>T) c.681A>T (p.Ser227=) c.834A>T (p.Ser278=) c.1014A>T (p.Ser338=) | |
| 7 | g.117540155G>A | CA4450864 | CFTR | c.925G>A (p.Ala309Thr) c.*822G>A (n.*822G>A) c.*749G>A (n.*749G>A) c.682G>A (p.Ala228Thr) c.835G>A (p.Ala279Thr) c.1015G>A (p.Ala339Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540155G>C | CA368978245 | CFTR | c.925G>C (p.Ala309Pro) c.*822G>C (n.*822G>C) c.*749G>C (n.*749G>C) c.682G>C (p.Ala228Pro) c.835G>C (p.Ala279Pro) c.1015G>C (p.Ala339Pro) | |
| 7 | g.117540155G= | CA1737331871 | CFTR | c.925G= (p.Ala309=) c.*822G= (n.*822G=) c.*749G= (n.*749G=) c.682G= (p.Ala228=) c.835G= (p.Ala279=) c.1015G= (p.Ala339=) | |
| 7 | g.117540155G>T | CA368978246 | CFTR | c.925G>T (p.Ala309Ser) c.*822G>T (n.*822G>T) c.*749G>T (n.*749G>T) c.682G>T (p.Ala228Ser) c.835G>T (p.Ala279Ser) c.1015G>T (p.Ala339Ser) | |
| 7 | g.117540156C>A | CA368978263 | CFTR | c.926C>A (p.Ala309Asp) c.*823C>A (n.*823C>A) c.*750C>A (n.*750C>A) c.683C>A (p.Ala228Asp) c.836C>A (p.Ala279Asp) c.1016C>A (p.Ala339Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540156C= | CA1737331878 | CFTR | c.926C= (p.Ala309=) c.*823C= (n.*823C=) c.*750C= (n.*750C=) c.683C= (p.Ala228=) c.836C= (p.Ala279=) c.1016C= (p.Ala339=) | |
| 7 | g.117540156C>G | CA327692 | CFTR | c.926C>G (p.Ala309Gly) c.*823C>G (n.*823C>G) c.*750C>G (n.*750C>G) c.683C>G (p.Ala228Gly) c.836C>G (p.Ala279Gly) c.1016C>G (p.Ala339Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540156C>T | CA368978259 | CFTR | c.926C>T (p.Ala309Val) c.*823C>T (n.*823C>T) c.*750C>T (n.*750C>T) c.683C>T (p.Ala228Val) c.836C>T (p.Ala279Val) c.1016C>T (p.Ala339Val) | ClinVar dbSNP |
| 7 | g.117540157del | CA2684618158 | CFTR | c.927del (p.Phe310SerfsTer18) c.*824del (n.*824del) c.*751del (n.*751del) c.684del (p.Phe229SerfsTer18) c.837del (p.Phe280SerfsTer18) c.1017del (p.Phe340SerfsTer18) | gnomAD v4 |
| 7 | g.117540156_117540159delinsCCTT | CA1737331876 | CFTR | c.926_929delinsCCTT (p.Ala309=) c.*823_*826delinsCCTT (n.*823_*826delinsCCTT) c.*750_*753delinsCCTT (n.*750_*753delinsCCTT) c.683_686delinsCCTT (p.Ala228=) c.836_839delinsCCTT (p.Ala279=) c.1016_1019delinsCCTT (p.Ala339=) | |
| 7 | g.117540157C>A | CA164953503 | CFTR | c.927C>A (p.Ala309=) c.*824C>A (n.*824C>A) c.*751C>A (n.*751C>A) c.684C>A (p.Ala228=) c.837C>A (p.Ala279=) c.1017C>A (p.Ala339=) | ClinVar dbSNP |
| 7 | g.117540157C= | CA1737331884 | CFTR | c.927C= (p.Ala309=) c.*824C= (n.*824C=) c.*751C= (n.*751C=) c.684C= (p.Ala228=) c.837C= (p.Ala279=) c.1017C= (p.Ala339=) | |
| 7 | g.117540157C>G | CA4450865 | CFTR | c.927C>G (p.Ala309=) c.*824C>G (n.*824C>G) c.*751C>G (n.*751C>G) c.684C>G (p.Ala228=) c.837C>G (p.Ala279=) c.1017C>G (p.Ala339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117540157C>T | CA4450866 | CFTR | c.927C>T (p.Ala309=) c.*824C>T (n.*824C>T) c.*751C>T (n.*751C>T) c.684C>T (p.Ala228=) c.837C>T (p.Ala279=) c.1017C>T (p.Ala339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117540165_117540167dup | CA1737331881 | CFTR | c.935_937dup (p.Phe312_Ser313insPhe) c.*832_*834dup (n.*832_*834dup) c.*759_*761dup (n.*759_*761dup) c.692_694dup (p.Phe231_Ser232insPhe) c.845_847dup (p.Phe282_Ser283insPhe) c.1025_1027dup (p.Phe342_Ser343insPhe) | dbSNP |
| 7 | g.117540165_117540167del | CA221037 | CFTR | c.935_937del (p.Phe312del) c.*832_*834del (n.*832_*834del) c.*759_*761del (n.*759_*761del) c.692_694del (p.Phe231del) c.845_847del (p.Phe282del) c.1025_1027del (p.Phe342del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540158T>A | CA368978289 | CFTR | c.928T>A (p.Phe310Ile) c.*825T>A (n.*825T>A) c.*752T>A (n.*752T>A) c.685T>A (p.Phe229Ile) c.838T>A (p.Phe280Ile) c.1018T>A (p.Phe340Ile) | |
| 7 | g.117540158T>C | CA368978296 | CFTR | c.928T>C (p.Phe310Leu) c.*825T>C (n.*825T>C) c.*752T>C (n.*752T>C) c.685T>C (p.Phe229Leu) c.838T>C (p.Phe280Leu) c.1018T>C (p.Phe340Leu) | |
| 7 | g.117540158T>G | CA368978293 | CFTR | c.928T>G (p.Phe310Val) c.*825T>G (n.*825T>G) c.*752T>G (n.*752T>G) c.685T>G (p.Phe229Val) c.838T>G (p.Phe280Val) c.1018T>G (p.Phe340Val) | |
| 7 | g.117540159T>A | CA368978299 | CFTR | c.929T>A (p.Phe310Tyr) c.*826T>A (n.*826T>A) c.*753T>A (n.*753T>A) c.686T>A (p.Phe229Tyr) c.839T>A (p.Phe280Tyr) c.1019T>A (p.Phe340Tyr) | |
| 7 | g.117540159T>C | CA368978303 | CFTR | c.929T>C (p.Phe310Ser) c.*826T>C (n.*826T>C) c.*753T>C (n.*753T>C) c.686T>C (p.Phe229Ser) c.839T>C (p.Phe280Ser) c.1019T>C (p.Phe340Ser) | |
| 7 | g.117540159T>G | CA368978305 | CFTR | c.929T>G (p.Phe310Cys) c.*826T>G (n.*826T>G) c.*753T>G (n.*753T>G) c.686T>G (p.Phe229Cys) c.839T>G (p.Phe280Cys) c.1019T>G (p.Phe340Cys) | gnomAD v4 |
| 7 | g.117540159_117540160delinsTC | CA1737331887 | CFTR | c.929_930delinsTC (p.Phe310=) c.*826_*827delinsTC (n.*826_*827delinsTC) c.*753_*754delinsTC (n.*753_*754delinsTC) c.686_687delinsTC (p.Phe229=) c.839_840delinsTC (p.Phe280=) c.1019_1020delinsTC (p.Phe340=) | |
| 7 | g.117540160del | CA915945466 | CFTR | c.930del (p.Phe311SerfsTer17) c.*827del (n.*827del) c.*754del (n.*754del) c.687del (p.Phe230SerfsTer17) c.840del (p.Phe281SerfsTer17) c.1020del (p.Phe341SerfsTer17) | ClinVar dbSNP |
| 7 | g.117540160C>A | CA368978306 | CFTR | c.930C>A (p.Phe310Leu) c.*827C>A (n.*827C>A) c.*754C>A (n.*754C>A) c.687C>A (p.Phe229Leu) c.840C>A (p.Phe280Leu) c.1020C>A (p.Phe340Leu) | gnomAD v4 |
| 7 | g.117540160C= | CA1737331893 | CFTR | c.930C= (p.Phe310=) c.*827C= (n.*827C=) c.*754C= (n.*754C=) c.687C= (p.Phe229=) c.840C= (p.Phe280=) c.1020C= (p.Phe340=) | |
| 7 | g.117540160C>G | CA368978310 | CFTR | c.930C>G (p.Phe310Leu) c.*827C>G (n.*827C>G) c.*754C>G (n.*754C>G) c.687C>G (p.Phe229Leu) c.840C>G (p.Phe280Leu) c.1020C>G (p.Phe340Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540160C>T | CA457448611 | CFTR | c.930C>T (p.Phe310=) c.*827C>T (n.*827C>T) c.*754C>T (n.*754C>T) c.687C>T (p.Phe229=) c.840C>T (p.Phe280=) c.1020C>T (p.Phe340=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117540161T>A | CA368978312 | CFTR | c.931T>A (p.Phe311Ile) c.*828T>A (n.*828T>A) c.*755T>A (n.*755T>A) c.688T>A (p.Phe230Ile) c.841T>A (p.Phe281Ile) c.1021T>A (p.Phe341Ile) | |
| 7 | g.117540161T>C | CA368978315 | CFTR | c.931T>C (p.Phe311Leu) c.*828T>C (n.*828T>C) c.*755T>C (n.*755T>C) c.688T>C (p.Phe230Leu) c.841T>C (p.Phe281Leu) c.1021T>C (p.Phe341Leu) | ClinVar dbSNP |
| 7 | g.117540161T>G | CA368978318 | CFTR | c.931T>G (p.Phe311Val) c.*828T>G (n.*828T>G) c.*755T>G (n.*755T>G) c.688T>G (p.Phe230Val) c.841T>G (p.Phe281Val) c.1021T>G (p.Phe341Val) | ClinVar |
| 7 | g.117540162T>A | CA368978325 | CFTR | c.932T>A (p.Phe311Tyr) c.*829T>A (n.*829T>A) c.*756T>A (n.*756T>A) c.689T>A (p.Phe230Tyr) c.842T>A (p.Phe281Tyr) c.1022T>A (p.Phe341Tyr) | |
| 7 | g.117540162T>C | CA368978324 | CFTR | c.932T>C (p.Phe311Ser) c.*829T>C (n.*829T>C) c.*756T>C (n.*756T>C) c.689T>C (p.Phe230Ser) c.842T>C (p.Phe281Ser) c.1022T>C (p.Phe341Ser) | ClinVar |
| 7 | g.117540162T>G | CA368978321 | CFTR | c.932T>G (p.Phe311Cys) c.*829T>G (n.*829T>G) c.*756T>G (n.*756T>G) c.689T>G (p.Phe230Cys) c.842T>G (p.Phe281Cys) c.1022T>G (p.Phe341Cys) | ClinVar dbSNP |
| 7 | g.117540162T= | CA1737331896 | CFTR | c.932T= (p.Phe311=) c.*829T= (n.*829T=) c.*756T= (n.*756T=) c.689T= (p.Phe230=) c.842T= (p.Phe281=) c.1022T= (p.Phe341=) | |
| 7 | g.117540163C>A | CA368978326 | CFTR | c.933C>A (p.Phe311Leu) c.*830C>A (n.*830C>A) c.*757C>A (n.*757C>A) c.690C>A (p.Phe230Leu) c.843C>A (p.Phe281Leu) c.1023C>A (p.Phe341Leu) | ClinVar |
| 7 | g.117540163C= | CA1737331899 | CFTR | c.933C= (p.Phe311=) c.*830C= (n.*830C=) c.*757C= (n.*757C=) c.690C= (p.Phe230=) c.843C= (p.Phe281=) c.1023C= (p.Phe341=) | |
| 7 | g.117540163C>G | CA325549 | CFTR | c.933C>G (p.Phe311Leu) c.*830C>G (n.*830C>G) c.*757C>G (n.*757C>G) c.690C>G (p.Phe230Leu) c.843C>G (p.Phe281Leu) c.1023C>G (p.Phe341Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540163C>T | CA457448613 | CFTR | c.933C>T (p.Phe311=) c.*830C>T (n.*830C>T) c.*757C>T (n.*757C>T) c.690C>T (p.Phe230=) c.843C>T (p.Phe281=) c.1023C>T (p.Phe341=) | |
| 7 | g.117540163_117540164insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC | CA2500278839 | CFTR | c.933_934insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC c.*830_*831insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC (n.*830_*831insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC) c.*757_*758insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC (n.*757_*758insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC) c.690_691insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC c.843_844insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC c.1023_1024insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC | |
| 7 | g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC | CA2546354450 | CFTR | c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC c.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC (n.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC) c.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC (n.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC) c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC c.843_844insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC c.1023_1024insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC | |
| 7 | g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA | CA2542784879 | CFTR | c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe312ArgfsTer8) c.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA (n.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA) c.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA (n.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA) c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe231ArgfsTer8) c.843_844insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe282ArgfsTer8) c.1023_1024insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe342ArgfsTer8) | |
| 7 | g.117540163_117540164insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA | CA2564132800 | CFTR | c.933_934insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe312ArgfsTer8) c.*830_*831insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (n.*830_*831insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA) c.*757_*758insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (n.*757_*758insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA) c.690_691insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe231ArgfsTer8) c.843_844insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe282ArgfsTer8) c.1023_1024insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe342ArgfsTer8) | |
| 7 | g.117540163_117540164insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA | CA2558367665 | CFTR | c.933_934insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe312ArgfsTer8) c.*830_*831insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA (n.*830_*831insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA) c.*757_*758insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA (n.*757_*758insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA) c.690_691insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe231ArgfsTer8) c.843_844insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe282ArgfsTer8) c.1023_1024insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe342ArgfsTer8) | |
| 7 | g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA | CA2530333085 | CFTR | c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe312ArgfsTer8) c.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (n.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA) c.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (n.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA) c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe231ArgfsTer8) c.843_844insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe282ArgfsTer8) c.1023_1024insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe342ArgfsTer8) | |
| 7 | g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA | CA2554840762 | CFTR | c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe312ArgfsTer8) c.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA (n.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA) c.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA (n.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA) c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe231ArgfsTer8) c.843_844insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe282ArgfsTer8) c.1023_1024insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe342ArgfsTer8) | |
| 7 | g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA | CA2532597899 | CFTR | c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA (p.Phe312ArgfsTer8) c.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA (n.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA) c.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA (n.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA) c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA (p.Phe231ArgfsTer8) c.843_844insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA (p.Phe282ArgfsTer8) c.1023_1024insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA (p.Phe342ArgfsTer8) | |
| 7 | g.117540164T>A | CA368978329 | CFTR | c.934T>A (p.Phe312Ile) c.*831T>A (n.*831T>A) c.*758T>A (n.*758T>A) c.691T>A (p.Phe231Ile) c.844T>A (p.Phe282Ile) c.1024T>A (p.Phe342Ile) | |
| 7 | g.117540164T>C | CA368978327 | CFTR | c.934T>C (p.Phe312Leu) c.*831T>C (n.*831T>C) c.*758T>C (n.*758T>C) c.691T>C (p.Phe231Leu) c.844T>C (p.Phe282Leu) c.1024T>C (p.Phe342Leu) | |
| 7 | g.117540164T>G | CA368978328 | CFTR | c.934T>G (p.Phe312Val) c.*831T>G (n.*831T>G) c.*758T>G (n.*758T>G) c.691T>G (p.Phe231Val) c.844T>G (p.Phe282Val) c.1024T>G (p.Phe342Val) | |
| 7 | g.117540165T>A | CA368978332 | CFTR | c.935T>A (p.Phe312Tyr) c.*832T>A (n.*832T>A) c.*759T>A (n.*759T>A) c.692T>A (p.Phe231Tyr) c.845T>A (p.Phe282Tyr) c.1025T>A (p.Phe342Tyr) | |
| 7 | g.117540165T>C | CA368978333 | CFTR | c.935T>C (p.Phe312Ser) c.*832T>C (n.*832T>C) c.*759T>C (n.*759T>C) c.692T>C (p.Phe231Ser) c.845T>C (p.Phe282Ser) c.1025T>C (p.Phe342Ser) | |
| 7 | g.117540165T>G | CA368978335 | CFTR | c.935T>G (p.Phe312Cys) c.*832T>G (n.*832T>G) c.*759T>G (n.*759T>G) c.692T>G (p.Phe231Cys) c.845T>G (p.Phe282Cys) c.1025T>G (p.Phe342Cys) | |
| 7 | g.117540165_117540166insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA | CA2562294255 | CFTR | c.935_936insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe313AlafsTer10) c.*832_*833insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA (n.*832_*833insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA) c.*759_*760insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA (n.*759_*760insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA) c.692_693insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe232AlafsTer10) c.845_846insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe283AlafsTer10) c.1025_1026insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe343AlafsTer10) | |
| 7 | g.117540165_117540166insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA | CA2518214346 | CFTR | c.935_936insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA (p.Phe313AlafsTer10) c.*832_*833insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA (n.*832_*833insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA) c.*759_*760insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA (n.*759_*760insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA) c.692_693insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA (p.Phe232AlafsTer10) c.845_846insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA (p.Phe283AlafsTer10) c.1025_1026insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA (p.Phe343AlafsTer10) | |
| 7 | g.117540166C>A | CA368978337 | CFTR | c.936C>A (p.Phe312Leu) c.*833C>A (n.*833C>A) c.*760C>A (n.*760C>A) c.693C>A (p.Phe231Leu) c.846C>A (p.Phe282Leu) c.1026C>A (p.Phe342Leu) | |
| 7 | g.117540166C>G | CA368978341 | CFTR | c.936C>G (p.Phe312Leu) c.*833C>G (n.*833C>G) c.*760C>G (n.*760C>G) c.693C>G (p.Phe231Leu) c.846C>G (p.Phe282Leu) c.1026C>G (p.Phe342Leu) | |
| 7 | g.117540166C>T | CA457448615 | CFTR | c.936C>T (p.Phe312=) c.*833C>T (n.*833C>T) c.*760C>T (n.*760C>T) c.693C>T (p.Phe231=) c.846C>T (p.Phe282=) c.1026C>T (p.Phe342=) | gnomAD v4 |
| 7 | g.117540167T>A | CA368978343 | CFTR | c.937T>A (p.Ser313Thr) c.*834T>A (n.*834T>A) c.*761T>A (n.*761T>A) c.694T>A (p.Ser232Thr) c.847T>A (p.Ser283Thr) c.1027T>A (p.Ser343Thr) | |
| 7 | g.117540167T>C | CA368978344 | CFTR | c.937T>C (p.Ser313Pro) c.*834T>C (n.*834T>C) c.*761T>C (n.*761T>C) c.694T>C (p.Ser232Pro) c.847T>C (p.Ser283Pro) c.1027T>C (p.Ser343Pro) | gnomAD v4 |
| 7 | g.117540167T>G | CA368978345 | CFTR | c.937T>G (p.Ser313Ala) c.*834T>G (n.*834T>G) c.*761T>G (n.*761T>G) c.694T>G (p.Ser232Ala) c.847T>G (p.Ser283Ala) c.1027T>G (p.Ser343Ala) | |
| 7 | g.117540168C>A | CA368978351 | CFTR | c.938C>A (p.Ser313Ter) c.*835C>A (n.*835C>A) c.*762C>A (n.*762C>A) c.695C>A (p.Ser232Ter) c.848C>A (p.Ser283Ter) c.1028C>A (p.Ser343Ter) | |
| 7 | g.117540168C>G | CA368978349 | CFTR | c.938C>G (p.Ser313Ter) c.*835C>G (n.*835C>G) c.*762C>G (n.*762C>G) c.695C>G (p.Ser232Ter) c.848C>G (p.Ser283Ter) c.1028C>G (p.Ser343Ter) | |
| 7 | g.117540168C>T | CA368978348 | CFTR | c.938C>T (p.Ser313Leu) c.*835C>T (n.*835C>T) c.*762C>T (n.*762C>T) c.695C>T (p.Ser232Leu) c.848C>T (p.Ser283Leu) c.1028C>T (p.Ser343Leu) | |
| 7 | g.117540169A= | CA1737331902 | CFTR | c.939A= (p.Ser313=) c.*836A= (n.*836A=) c.*763A= (n.*763A=) c.696A= (p.Ser232=) c.849A= (p.Ser283=) c.1029A= (p.Ser343=) | |
| 7 | g.117540169A>C | CA457448617 | CFTR | c.939A>C (p.Ser313=) c.*836A>C (n.*836A>C) c.*763A>C (n.*763A>C) c.696A>C (p.Ser232=) c.849A>C (p.Ser283=) c.1029A>C (p.Ser343=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540169A>G | CA4450867 | CFTR | c.939A>G (p.Ser313=) c.*836A>G (n.*836A>G) c.*763A>G (n.*763A>G) c.696A>G (p.Ser232=) c.849A>G (p.Ser283=) c.1029A>G (p.Ser343=) | dbSNP ExAC |
| 7 | g.117540169A>T | CA457448620 | CFTR | c.939A>T (p.Ser313=) c.*836A>T (n.*836A>T) c.*763A>T (n.*763A>T) c.696A>T (p.Ser232=) c.849A>T (p.Ser283=) c.1029A>T (p.Ser343=) | |
| 7 | g.117540170G>A | CA368978359 | CFTR | c.940G>A (p.Gly314Arg) c.*837G>A (n.*837G>A) c.*764G>A (n.*764G>A) c.697G>A (p.Gly233Arg) c.850G>A (p.Gly284Arg) c.1030G>A (p.Gly344Arg) | |
| 7 | g.117540170G>C | CA327695 | CFTR | c.940G>C (p.Gly314Arg) c.*837G>C (n.*837G>C) c.*764G>C (n.*764G>C) c.697G>C (p.Gly233Arg) c.850G>C (p.Gly284Arg) c.1030G>C (p.Gly344Arg) | ClinVar dbSNP |
| 7 | g.117540170G= | CA1737331904 | CFTR | c.940G= (p.Gly314=) c.*837G= (n.*837G=) c.*764G= (n.*764G=) c.697G= (p.Gly233=) c.850G= (p.Gly284=) c.1030G= (p.Gly344=) | |
| 7 | g.117540170G>T | CA368978360 | CFTR | c.940G>T (p.Gly314Trp) c.*837G>T (n.*837G>T) c.*764G>T (n.*764G>T) c.697G>T (p.Gly233Trp) c.850G>T (p.Gly284Trp) c.1030G>T (p.Gly344Trp) | ClinVar dbSNP |
| 7 | g.117540171G>A | CA327696 | CFTR | c.941G>A (p.Gly314Glu) c.*838G>A (n.*838G>A) c.*765G>A (n.*765G>A) c.698G>A (p.Gly233Glu) c.851G>A (p.Gly284Glu) c.1031G>A (p.Gly344Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540171G>C | CA368978366 | CFTR | c.941G>C (p.Gly314Ala) c.*838G>C (n.*838G>C) c.*765G>C (n.*765G>C) c.698G>C (p.Gly233Ala) c.851G>C (p.Gly284Ala) c.1031G>C (p.Gly344Ala) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540171G= | CA1737331911 | CFTR | c.941G= (p.Gly314=) c.*838G= (n.*838G=) c.*765G= (n.*765G=) c.698G= (p.Gly233=) c.851G= (p.Gly284=) c.1031G= (p.Gly344=) | |
| 7 | g.117540171G>T | CA327697 | CFTR | c.941G>T (p.Gly314Val) c.*838G>T (n.*838G>T) c.*765G>T (n.*765G>T) c.698G>T (p.Gly233Val) c.851G>T (p.Gly284Val) c.1031G>T (p.Gly344Val) | ClinVar dbSNP |
| 7 | g.117540172G>A | CA457448623 | CFTR | c.942G>A (p.Gly314=) c.*839G>A (n.*839G>A) c.*766G>A (n.*766G>A) c.699G>A (p.Gly233=) c.852G>A (p.Gly284=) c.1032G>A (p.Gly344=) | |
| 7 | g.117540172G>C | CA457448625 | CFTR | c.942G>C (p.Gly314=) c.*839G>C (n.*839G>C) c.*766G>C (n.*766G>C) c.699G>C (p.Gly233=) c.852G>C (p.Gly284=) c.1032G>C (p.Gly344=) | |
| 7 | g.117540172G= | CA1737331917 | CFTR | c.942G= (p.Gly314=) c.*839G= (n.*839G=) c.*766G= (n.*766G=) c.699G= (p.Gly233=) c.852G= (p.Gly284=) c.1032G= (p.Gly344=) | |
| 7 | g.117540172G>T | CA457448626 | CFTR | c.942G>T (p.Gly314=) c.*839G>T (n.*839G>T) c.*766G>T (n.*766G>T) c.699G>T (p.Gly233=) c.852G>T (p.Gly284=) c.1032G>T (p.Gly344=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540173T>A | CA368978379 | CFTR | c.943T>A (p.Phe315Ile) c.*840T>A (n.*840T>A) c.*767T>A (n.*767T>A) c.700T>A (p.Phe234Ile) c.853T>A (p.Phe285Ile) c.1033T>A (p.Phe345Ile) | |
| 7 | g.117540173T>C | CA368978381 | CFTR | c.943T>C (p.Phe315Leu) c.*840T>C (n.*840T>C) c.*767T>C (n.*767T>C) c.700T>C (p.Phe234Leu) c.853T>C (p.Phe285Leu) c.1033T>C (p.Phe345Leu) | |
| 7 | g.117540173T>G | CA368978384 | CFTR | c.943T>G (p.Phe315Val) c.*840T>G (n.*840T>G) c.*767T>G (n.*767T>G) c.700T>G (p.Phe234Val) c.853T>G (p.Phe285Val) c.1033T>G (p.Phe345Val) | |
| 7 | g.117540174T>A | CA368978388 | CFTR | c.944T>A (p.Phe315Tyr) c.*841T>A (n.*841T>A) c.*768T>A (n.*768T>A) c.701T>A (p.Phe234Tyr) c.854T>A (p.Phe285Tyr) c.1034T>A (p.Phe345Tyr) | |
| 7 | g.117540174T>C | CA4450868 | CFTR | c.944T>C (p.Phe315Ser) c.*841T>C (n.*841T>C) c.*768T>C (n.*768T>C) c.701T>C (p.Phe234Ser) c.854T>C (p.Phe285Ser) c.1034T>C (p.Phe345Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540174T>G | CA368978393 | CFTR | c.944T>G (p.Phe315Cys) c.*841T>G (n.*841T>G) c.*768T>G (n.*768T>G) c.701T>G (p.Phe234Cys) c.854T>G (p.Phe285Cys) c.1034T>G (p.Phe345Cys) | ClinVar |
| 7 | g.117540174T= | CA1737331919 | CFTR | c.944T= (p.Phe315=) c.*841T= (n.*841T=) c.*768T= (n.*768T=) c.701T= (p.Phe234=) c.854T= (p.Phe285=) c.1034T= (p.Phe345=) | |
| 7 | g.117540175C>A | CA368978399 | CFTR | c.945C>A (p.Phe315Leu) c.*842C>A (n.*842C>A) c.*769C>A (n.*769C>A) c.702C>A (p.Phe234Leu) c.855C>A (p.Phe285Leu) c.1035C>A (p.Phe345Leu) | |
| 7 | g.117540175C= | CA1737331925 | CFTR | c.945C= (p.Phe315=) c.*842C= (n.*842C=) c.*769C= (n.*769C=) c.702C= (p.Phe234=) c.855C= (p.Phe285=) c.1035C= (p.Phe345=) | |
| 7 | g.117540175C>G | CA368978397 | CFTR | c.945C>G (p.Phe315Leu) c.*842C>G (n.*842C>G) c.*769C>G (n.*769C>G) c.702C>G (p.Phe234Leu) c.855C>G (p.Phe285Leu) c.1035C>G (p.Phe345Leu) | dbSNP |
| 7 | g.117540175C>T | CA457448629 | CFTR | c.945C>T (p.Phe315=) c.*842C>T (n.*842C>T) c.*769C>T (n.*769C>T) c.702C>T (p.Phe234=) c.855C>T (p.Phe285=) c.1035C>T (p.Phe345=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117540175_117540176delinsCT | CA1737331923 | CFTR | c.945_946delinsCT (p.Phe315=) c.*842_*843delinsCT (n.*842_*843delinsCT) c.*769_*770delinsCT (n.*769_*770delinsCT) c.702_703delinsCT (p.Phe234=) c.855_856delinsCT (p.Phe285=) c.1035_1036delinsCT (p.Phe345=) |