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.117527502_117531824del | CA2580076333 | CFTR | c.274-3397_489+710del c.*171-3397_*386+710del c.*98-3397_*313+710del c.31-3397_246+710del c.364-3397_579+710del | ClinVar |
| 7 | g.117530886dup | CA2684617322 | CFTR | c.274-13dup (n.274-13dup) c.*171-13dup (n.*171-13dup) c.*98-13dup (n.*98-13dup) c.31-13dup (n.31-13dup) c.364-13dup (n.364-13dup) | gnomAD v4 |
| 7 | g.117530886del | CA2578999872 | CFTR | c.274-13del (n.274-13del) c.*171-13del (n.*171-13del) c.*98-13del (n.*98-13del) c.31-13del (n.31-13del) c.364-13del (n.364-13del) | gnomAD v4 |
| 7 | g.117530886T>A | CA164943551 | CFTR | c.274-13T>A (n.274-13T>A) c.*171-13T>A (n.*171-13T>A) c.*98-13T>A (n.*98-13T>A) c.31-13T>A (n.31-13T>A) c.364-13T>A (n.364-13T>A) | dbSNP |
| 7 | g.117530886T>C | CA4450694 | CFTR | c.274-13T>C (n.274-13T>C) c.*171-13T>C (n.*171-13T>C) c.*98-13T>C (n.*98-13T>C) c.31-13T>C (n.31-13T>C) c.364-13T>C (n.364-13T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530886T= | CA1737359038 | CFTR | c.274-13T= (n.274-13T=) c.*171-13T= (n.*171-13T=) c.*98-13T= (n.*98-13T=) c.31-13T= (n.31-13T=) c.364-13T= (n.364-13T=) | |
| 7 | g.117530886_117530887delinsTC | CA1737359036 | CFTR | c.274-13_274-12delinsTC (n.274-13_274-12delinsTC) c.*171-13_*171-12delinsTC (n.*171-13_*171-12delinsTC) c.*98-13_*98-12delinsTC (n.*98-13_*98-12delinsTC) c.31-13_31-12delinsTC (n.31-13_31-12delinsTC) c.364-13_364-12delinsTC (n.364-13_364-12delinsTC) | |
| 7 | g.117530887C>A | CA2684617323 | CFTR | c.274-12C>A (n.274-12C>A) c.*171-12C>A (n.*171-12C>A) c.*98-12C>A (n.*98-12C>A) c.31-12C>A (n.31-12C>A) c.364-12C>A (n.364-12C>A) | gnomAD v4 |
| 7 | g.117530887C= | CA1737359046 | CFTR | c.274-12C= (n.274-12C=) c.*171-12C= (n.*171-12C=) c.*98-12C= (n.*98-12C=) c.31-12C= (n.31-12C=) c.364-12C= (n.364-12C=) | |
| 7 | g.117530887C>T | CA4450696 | CFTR | c.274-12C>T (n.274-12C>T) c.*171-12C>T (n.*171-12C>T) c.*98-12C>T (n.*98-12C>T) c.31-12C>T (n.31-12C>T) c.364-12C>T (n.364-12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530890del | CA4450695 | CFTR | c.274-9del (n.274-9del) c.*171-9del (n.*171-9del) c.*98-9del (n.*98-9del) c.31-9del (n.31-9del) c.364-9del (n.364-9del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530888C>G | CA2684617324 | CFTR | c.274-11C>G (n.274-11C>G) c.*171-11C>G (n.*171-11C>G) c.*98-11C>G (n.*98-11C>G) c.31-11C>G (n.31-11C>G) c.364-11C>G (n.364-11C>G) | gnomAD v4 |
| 7 | g.117530889C>A | CA577670838 | CFTR | c.274-10C>A (n.274-10C>A) c.*171-10C>A (n.*171-10C>A) c.*98-10C>A (n.*98-10C>A) c.31-10C>A (n.31-10C>A) c.364-10C>A (n.364-10C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530889C= | CA1737359051 | CFTR | c.274-10C= (n.274-10C=) c.*171-10C= (n.*171-10C=) c.*98-10C= (n.*98-10C=) c.31-10C= (n.31-10C=) c.364-10C= (n.364-10C=) | |
| 7 | g.117530889C>G | CA326905 | CFTR | c.274-10C>G (n.274-10C>G) c.*171-10C>G (n.*171-10C>G) c.*98-10C>G (n.*98-10C>G) c.31-10C>G (n.31-10C>G) c.364-10C>G (n.364-10C>G) | ClinVar dbSNP |
| 7 | g.117530889C>T | CA832108963 | CFTR | c.274-10C>T (n.274-10C>T) c.*171-10C>T (n.*171-10C>T) c.*98-10C>T (n.*98-10C>T) c.31-10C>T (n.31-10C>T) c.364-10C>T (n.364-10C>T) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530890C>A | CA577670844 | CFTR | c.274-9C>A (n.274-9C>A) c.*171-9C>A (n.*171-9C>A) c.*98-9C>A (n.*98-9C>A) c.31-9C>A (n.31-9C>A) c.364-9C>A (n.364-9C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530890C= | CA1737359058 | CFTR | c.274-9C= (n.274-9C=) c.*171-9C= (n.*171-9C=) c.*98-9C= (n.*98-9C=) c.31-9C= (n.31-9C=) c.364-9C= (n.364-9C=) | |
| 7 | g.117530890C>G | CA2573141538 | CFTR | c.274-9C>G (n.274-9C>G) c.*171-9C>G (n.*171-9C>G) c.*98-9C>G (n.*98-9C>G) c.31-9C>G (n.31-9C>G) c.364-9C>G (n.364-9C>G) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530890C>T | CA4450697 | CFTR | c.274-9C>T (n.274-9C>T) c.*171-9C>T (n.*171-9C>T) c.*98-9C>T (n.*98-9C>T) c.31-9C>T (n.31-9C>T) c.364-9C>T (n.364-9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530891T>C | CA577670846 | CFTR | c.274-8T>C (n.274-8T>C) c.*171-8T>C (n.*171-8T>C) c.*98-8T>C (n.*98-8T>C) c.31-8T>C (n.31-8T>C) c.364-8T>C (n.364-8T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530891T= | CA1737359062 | CFTR | c.274-8T= (n.274-8T=) c.*171-8T= (n.*171-8T=) c.*98-8T= (n.*98-8T=) c.31-8T= (n.31-8T=) c.364-8T= (n.364-8T=) | |
| 7 | g.117530894del | CA2684617325 | CFTR | c.274-5del (n.274-5del) c.*171-5del (n.*171-5del) c.*98-5del (n.*98-5del) c.31-5del (n.31-5del) c.364-5del (n.364-5del) | gnomAD v4 |
| 7 | g.117530892T>C | CA2580076273 | CFTR | c.274-7T>C (n.274-7T>C) c.*171-7T>C (n.*171-7T>C) c.*98-7T>C (n.*98-7T>C) c.31-7T>C (n.31-7T>C) c.364-7T>C (n.364-7T>C) | ClinVar |
| 7 | g.117530893T>C | CA4450698 | CFTR | c.274-6T>C (n.274-6T>C) c.*171-6T>C (n.*171-6T>C) c.*98-6T>C (n.*98-6T>C) c.31-6T>C (n.31-6T>C) c.364-6T>C (n.364-6T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530893T= | CA1737359068 | CFTR | c.274-6T= (n.274-6T=) c.*171-6T= (n.*171-6T=) c.*98-6T= (n.*98-6T=) c.31-6T= (n.31-6T=) c.364-6T= (n.364-6T=) | |
| 7 | g.117530893_117530897delinsTTGTA | CA1737359069 | CFTR | c.274-6_274-2delinsTTGTA (n.274-6_274-2delinsTTGTA) c.*171-6_*171-2delinsTTGTA (n.*171-6_*171-2delinsTTGTA) c.*98-6_*98-2delinsTTGTA (n.*98-6_*98-2delinsTTGTA) c.31-6_31-2delinsTTGTA (n.31-6_31-2delinsTTGTA) c.364-6_364-2delinsTTGTA (n.364-6_364-2delinsTTGTA) | |
| 7 | g.117530894T>A | CA577670847 | CFTR | c.274-5T>A (n.274-5T>A) c.*171-5T>A (n.*171-5T>A) c.*98-5T>A (n.*98-5T>A) c.31-5T>A (n.31-5T>A) c.364-5T>A (n.364-5T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530894T= | CA1737359073 | CFTR | c.274-5T= (n.274-5T=) c.*171-5T= (n.*171-5T=) c.*98-5T= (n.*98-5T=) c.31-5T= (n.31-5T=) c.364-5T= (n.364-5T=) | |
| 7 | g.117530894_117530897del | CA915945470 | CFTR | c.274-5_274-2del (n.274-5_274-2del) c.*171-5_*171-2del (n.*171-5_*171-2del) c.*98-5_*98-2del (n.*98-5_*98-2del) c.31-5_31-2del (n.31-5_31-2del) c.364-5_364-2del (n.364-5_364-2del) | ClinVar dbSNP |
| 7 | g.117530895G>A | CA577670848 | CFTR | c.274-4G>A (n.274-4G>A) c.*171-4G>A (n.*171-4G>A) c.*98-4G>A (n.*98-4G>A) c.31-4G>A (n.31-4G>A) c.364-4G>A (n.364-4G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530895G= | CA1737359075 | CFTR | c.274-4G= (n.274-4G=) c.*171-4G= (n.*171-4G=) c.*98-4G= (n.*98-4G=) c.31-4G= (n.31-4G=) c.364-4G= (n.364-4G=) | |
| 7 | g.117530896T>C | CA658821270 | CFTR | c.274-3T>C (n.274-3T>C) c.*171-3T>C (n.*171-3T>C) c.*98-3T>C (n.*98-3T>C) c.31-3T>C (n.31-3T>C) c.364-3T>C (n.364-3T>C) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530896T= | CA1737359077 | CFTR | c.274-3T= (n.274-3T=) c.*171-3T= (n.*171-3T=) c.*98-3T= (n.*98-3T=) c.31-3T= (n.31-3T=) c.364-3T= (n.364-3T=) | |
| 7 | g.117530896_117531112delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA | CA1737359079 | CFTR | c.274-3_487delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.*171-3_*384delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.*98-3_*311delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.31-3_244delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA c.364-3_577delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA | |
| 7 | g.117530897A= | CA1737359086 | CFTR | c.274-2A= (n.274-2A=) c.*171-2A= (n.*171-2A=) c.*98-2A= (n.*98-2A=) c.31-2A= (n.31-2A=) c.364-2A= (n.364-2A=) | |
| 7 | g.117530897A>C | CA368974171 | CFTR | c.274-2A>C (n.274-2A>C) c.*171-2A>C (n.*171-2A>C) c.*98-2A>C (n.*98-2A>C) c.31-2A>C (n.31-2A>C) c.364-2A>C (n.364-2A>C) | ClinVar dbSNP |
| 7 | g.117530897A>G | CA326908 | CFTR | c.274-2A>G (n.274-2A>G) c.*171-2A>G (n.*171-2A>G) c.*98-2A>G (n.*98-2A>G) c.31-2A>G (n.31-2A>G) c.364-2A>G (n.364-2A>G) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530897A>T | CA368974173 | CFTR | c.274-2A>T (n.274-2A>T) c.*171-2A>T (n.*171-2A>T) c.*98-2A>T (n.*98-2A>T) c.31-2A>T (n.31-2A>T) c.364-2A>T (n.364-2A>T) | |
| 7 | g.117530900_117531115del | CA913189986 | CFTR | c.275_489+1del c.*172_*386+1del c.*99_*313+1del c.32_246+1del c.365_579+1del | ClinVar dbSNP |
| 7 | g.117530898G>A | CA345313 | CFTR | c.274-1G>A (n.274-1G>A) c.*171-1G>A (n.*171-1G>A) c.*98-1G>A (n.*98-1G>A) c.31-1G>A (n.31-1G>A) c.364-1G>A (n.364-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530898G>C | CA326906 | CFTR | c.274-1G>C (n.274-1G>C) c.*171-1G>C (n.*171-1G>C) c.*98-1G>C (n.*98-1G>C) c.31-1G>C (n.31-1G>C) c.364-1G>C (n.364-1G>C) | ClinVar dbSNP |
| 7 | g.117530898G= | CA1737359098 | CFTR | c.274-1G= (n.274-1G=) c.*171-1G= (n.*171-1G=) c.*98-1G= (n.*98-1G=) c.31-1G= (n.31-1G=) c.364-1G= (n.364-1G=) | |
| 7 | g.117530898G>T | CA326907 | CFTR | c.274-1G>T (n.274-1G>T) c.*171-1G>T (n.*171-1G>T) c.*98-1G>T (n.*98-1G>T) c.31-1G>T (n.31-1G>T) c.364-1G>T (n.364-1G>T) | ClinVar dbSNP |
| 7 | g.117530899del | CA2697557567 | CFTR | c.274del c.*171del c.*98del c.31del c.364del | ClinVar |
| 7 | g.117530899G>A | CA325572 | CFTR | c.274G>A (p.Glu92Lys) c.*171G>A (n.*171G>A) c.*98G>A (n.*98G>A) c.31G>A (p.Glu11Lys) c.364G>A (p.Glu122Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.117530899G>C | CA368974176 | CFTR | c.274G>C (p.Glu92Gln) c.*171G>C (n.*171G>C) c.*98G>C (n.*98G>C) c.31G>C (p.Glu11Gln) c.364G>C (p.Glu122Gln) | |
| 7 | g.117530899G= | CA1737359102 | CFTR | c.274G= (p.Glu92=) c.*171G= (n.*171G=) c.*98G= (n.*98G=) c.31G= (p.Glu11=) c.364G= (p.Glu122=) | |
| 7 | g.117530899G>T | CA325576 | CFTR | c.274G>T (p.Glu92Ter) c.*171G>T (n.*171G>T) c.*98G>T (n.*98G>T) c.31G>T (p.Glu11Ter) c.364G>T (p.Glu122Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530900_117534366del | CA913189987 | CFTR | c.275_579+1del c.*172_*476+1del c.*99_*403+1del c.32_336+1del c.275_490-882del c.365_669+1del | ClinVar |
| 7 | g.117530900A>C | CA368974178 | CFTR | c.275A>C (p.Glu92Ala) c.*172A>C (n.*172A>C) c.*99A>C (n.*99A>C) c.32A>C (p.Glu11Ala) c.365A>C (p.Glu122Ala) | |
| 7 | g.117530900A>G | CA368974180 | CFTR | c.275A>G (p.Glu92Gly) c.*172A>G (n.*172A>G) c.*99A>G (n.*99A>G) c.32A>G (p.Glu11Gly) c.365A>G (p.Glu122Gly) | gnomAD v4 |
| 7 | g.117530900A>T | CA368974182 | CFTR | c.275A>T (p.Glu92Val) c.*172A>T (n.*172A>T) c.*99A>T (n.*99A>T) c.32A>T (p.Glu11Val) c.365A>T (p.Glu122Val) | |
| 7 | g.117530901A= | CA1737359108 | CFTR | c.276A= (p.Glu92=) c.*173A= (n.*173A=) c.*100A= (n.*100A=) c.33A= (p.Glu11=) c.366A= (p.Glu122=) | |
| 7 | g.117530901A>C | CA368974184 | CFTR | c.276A>C (p.Glu92Asp) c.*173A>C (n.*173A>C) c.*100A>C (n.*100A>C) c.33A>C (p.Glu11Asp) c.366A>C (p.Glu122Asp) | |
| 7 | g.117530901A>G | CA457448527 | CFTR | c.276A>G (p.Glu92=) c.*173A>G (n.*173A>G) c.*100A>G (n.*100A>G) c.33A>G (p.Glu11=) c.366A>G (p.Glu122=) | |
| 7 | g.117530901A>T | CA326921 | CFTR | c.276A>T (p.Glu92Asp) c.*173A>T (n.*173A>T) c.*100A>T (n.*100A>T) c.33A>T (p.Glu11Asp) c.366A>T (p.Glu122Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117530902G>A | CA368974187 | CFTR | c.277G>A (p.Val93Ile) c.*174G>A (n.*174G>A) c.*101G>A (n.*101G>A) c.34G>A (p.Val12Ile) c.367G>A (p.Val123Ile) | |
| 7 | g.117530902G>C | CA368974189 | CFTR | c.277G>C (p.Val93Leu) c.*174G>C (n.*174G>C) c.*101G>C (n.*101G>C) c.34G>C (p.Val12Leu) c.367G>C (p.Val123Leu) | |
| 7 | g.117530902G>T | CA368974191 | CFTR | c.277G>T (p.Val93Phe) c.*174G>T (n.*174G>T) c.*101G>T (n.*101G>T) c.34G>T (p.Val12Phe) c.367G>T (p.Val123Phe) | |
| 7 | g.117530903T>A | CA368974193 | CFTR | c.278T>A (p.Val93Asp) c.*175T>A (n.*175T>A) c.*102T>A (n.*102T>A) c.35T>A (p.Val12Asp) c.368T>A (p.Val123Asp) | ClinVar |
| 7 | g.117530903T>C | CA368974195 | CFTR | c.278T>C (p.Val93Ala) c.*175T>C (n.*175T>C) c.*102T>C (n.*102T>C) c.35T>C (p.Val12Ala) c.368T>C (p.Val123Ala) | |
| 7 | g.117530903T>G | CA368974197 | CFTR | c.278T>G (p.Val93Gly) c.*175T>G (n.*175T>G) c.*102T>G (n.*102T>G) c.35T>G (p.Val12Gly) c.368T>G (p.Val123Gly) | gnomAD v4 |
| 7 | g.117530904C>A | CA457448528 | CFTR | c.279C>A (p.Val93=) c.*176C>A (n.*176C>A) c.*103C>A (n.*103C>A) c.36C>A (p.Val12=) c.369C>A (p.Val123=) | gnomAD v4 |
| 7 | g.117530904C= | CA1737359110 | CFTR | c.279C= (p.Val93=) c.*176C= (n.*176C=) c.*103C= (n.*103C=) c.36C= (p.Val12=) c.369C= (p.Val123=) | |
| 7 | g.117530904C>G | CA457448529 | CFTR | c.279C>G (p.Val93=) c.*176C>G (n.*176C>G) c.*103C>G (n.*103C>G) c.36C>G (p.Val12=) c.369C>G (p.Val123=) | |
| 7 | g.117530904C>T | CA4450699 | CFTR | c.279C>T (p.Val93=) c.*176C>T (n.*176C>T) c.*103C>T (n.*103C>T) c.36C>T (p.Val12=) c.369C>T (p.Val123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530905A= | CA1737359112 | CFTR | c.280A= (p.Thr94=) c.*177A= (n.*177A=) c.*104A= (n.*104A=) c.37A= (p.Thr13=) c.370A= (p.Thr124=) | |
| 7 | g.117530905A>C | CA368974201 | CFTR | c.280A>C (p.Thr94Pro) c.*177A>C (n.*177A>C) c.*104A>C (n.*104A>C) c.37A>C (p.Thr13Pro) c.370A>C (p.Thr124Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530905A>G | CA368974203 | CFTR | c.280A>G (p.Thr94Ala) c.*177A>G (n.*177A>G) c.*104A>G (n.*104A>G) c.37A>G (p.Thr13Ala) c.370A>G (p.Thr124Ala) | dbSNP gnomAD v4 |
| 7 | g.117530905A>T | CA368974205 | CFTR | c.280A>T (p.Thr94Ser) c.*177A>T (n.*177A>T) c.*104A>T (n.*104A>T) c.37A>T (p.Thr13Ser) c.370A>T (p.Thr124Ser) | |
| 7 | g.117530905_117530911delinsTA | CA2695208290 | CFTR | c.280_286delinsTA (p.Thr94TyrfsTer15) c.*177_*183delinsTA (n.*177_*183delinsTA) c.*104_*110delinsTA (n.*104_*110delinsTA) c.37_43delinsTA (p.Thr13TyrfsTer15) c.370_376delinsTA (p.Thr124TyrfsTer15) | |
| 7 | g.117530906C>A | CA368974207 | CFTR | c.281C>A (p.Thr94Asn) c.*178C>A (n.*178C>A) c.*105C>A (n.*105C>A) c.38C>A (p.Thr13Asn) c.371C>A (p.Thr124Asn) | |
| 7 | g.117530906C= | CA1737359117 | CFTR | c.281C= (p.Thr94=) c.*178C= (n.*178C=) c.*105C= (n.*105C=) c.38C= (p.Thr13=) c.371C= (p.Thr124=) | |
| 7 | g.117530906C>G | CA368974208 | CFTR | c.281C>G (p.Thr94Ser) c.*178C>G (n.*178C>G) c.*105C>G (n.*105C>G) c.38C>G (p.Thr13Ser) c.371C>G (p.Thr124Ser) | |
| 7 | g.117530906C>T | CA4450700 | CFTR | c.281C>T (p.Thr94Ile) c.*178C>T (n.*178C>T) c.*105C>T (n.*105C>T) c.38C>T (p.Thr13Ile) c.371C>T (p.Thr124Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530907C>A | CA457448530 | CFTR | c.282C>A (p.Thr94=) c.*179C>A (n.*179C>A) c.*106C>A (n.*106C>A) c.39C>A (p.Thr13=) c.372C>A (p.Thr124=) | gnomAD v4 |
| 7 | g.117530907C= | CA1737359121 | CFTR | c.282C= (p.Thr94=) c.*179C= (n.*179C=) c.*106C= (n.*106C=) c.39C= (p.Thr13=) c.372C= (p.Thr124=) | |
| 7 | g.117530907C>G | CA457448532 | CFTR | c.282C>G (p.Thr94=) c.*179C>G (n.*179C>G) c.*106C>G (n.*106C>G) c.39C>G (p.Thr13=) c.372C>G (p.Thr124=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530907C>T | CA457448531 | CFTR | c.282C>T (p.Thr94=) c.*179C>T (n.*179C>T) c.*106C>T (n.*106C>T) c.39C>T (p.Thr13=) c.372C>T (p.Thr124=) | |
| 7 | g.117530908A>C | CA368974212 | CFTR | c.283A>C (p.Lys95Gln) c.*180A>C (n.*180A>C) c.*107A>C (n.*107A>C) c.40A>C (p.Lys14Gln) c.373A>C (p.Lys125Gln) | gnomAD v4 |
| 7 | g.117530908A>G | CA368974209 | CFTR | c.283A>G (p.Lys95Glu) c.*180A>G (n.*180A>G) c.*107A>G (n.*107A>G) c.40A>G (p.Lys14Glu) c.373A>G (p.Lys125Glu) | |
| 7 | g.117530908A>T | CA368974210 | CFTR | c.283A>T (p.Lys95Ter) c.*180A>T (n.*180A>T) c.*107A>T (n.*107A>T) c.40A>T (p.Lys14Ter) c.373A>T (p.Lys125Ter) | ClinVar |
| 7 | g.117530909A= | CA1737359124 | CFTR | c.284A= (p.Lys95=) c.*181A= (n.*181A=) c.*108A= (n.*108A=) c.41A= (p.Lys14=) c.374A= (p.Lys125=) | |
| 7 | g.117530909A>C | CA368974214 | CFTR | c.284A>C (p.Lys95Thr) c.*181A>C (n.*181A>C) c.*108A>C (n.*108A>C) c.41A>C (p.Lys14Thr) c.374A>C (p.Lys125Thr) | |
| 7 | g.117530909A>G | CA368974216 | CFTR | c.284A>G (p.Lys95Arg) c.*181A>G (n.*181A>G) c.*108A>G (n.*108A>G) c.41A>G (p.Lys14Arg) c.374A>G (p.Lys125Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530909A>T | CA368974218 | CFTR | c.284A>T (p.Lys95Ile) c.*181A>T (n.*181A>T) c.*108A>T (n.*108A>T) c.41A>T (p.Lys14Ile) c.374A>T (p.Lys125Ile) | |
| 7 | g.117530910A= | CA1737359130 | CFTR | c.285A= (p.Lys95=) c.*182A= (n.*182A=) c.*109A= (n.*109A=) c.42A= (p.Lys14=) c.375A= (p.Lys125=) | |
| 7 | g.117530910A>C | CA368974220 | CFTR | c.285A>C (p.Lys95Asn) c.*182A>C (n.*182A>C) c.*109A>C (n.*109A>C) c.42A>C (p.Lys14Asn) c.375A>C (p.Lys125Asn) | |
| 7 | g.117530910A>G | CA457448534 | CFTR | c.285A>G (p.Lys95=) c.*182A>G (n.*182A>G) c.*109A>G (n.*109A>G) c.42A>G (p.Lys14=) c.375A>G (p.Lys125=) | ClinVar dbSNP |
| 7 | g.117530910A>T | CA368974222 | CFTR | c.285A>T (p.Lys95Asn) c.*182A>T (n.*182A>T) c.*109A>T (n.*109A>T) c.42A>T (p.Lys14Asn) c.375A>T (p.Lys125Asn) | |
| 7 | g.117530911G>A | CA368974228 | CFTR | c.286G>A (p.Ala96Thr) c.*183G>A (n.*183G>A) c.*110G>A (n.*110G>A) c.43G>A (p.Ala15Thr) c.376G>A (p.Ala126Thr) | |
| 7 | g.117530911G>C | CA368974226 | CFTR | c.286G>C (p.Ala96Pro) c.*183G>C (n.*183G>C) c.*110G>C (n.*110G>C) c.43G>C (p.Ala15Pro) c.376G>C (p.Ala126Pro) | |
| 7 | g.117530911G>T | CA368974225 | CFTR | c.286G>T (p.Ala96Ser) c.*183G>T (n.*183G>T) c.*110G>T (n.*110G>T) c.43G>T (p.Ala15Ser) c.376G>T (p.Ala126Ser) | |
| 7 | g.117530912C>A | CA326952 | CFTR | c.287C>A (p.Ala96Glu) c.*184C>A (n.*184C>A) c.*111C>A (n.*111C>A) c.44C>A (p.Ala15Glu) c.377C>A (p.Ala126Glu) | ClinVar dbSNP |
| 7 | g.117530912C= | CA1737359133 | CFTR | c.287C= (p.Ala96=) c.*184C= (n.*184C=) c.*111C= (n.*111C=) c.44C= (p.Ala15=) c.377C= (p.Ala126=) | |
| 7 | g.117530912C>G | CA368974230 | CFTR | c.287C>G (p.Ala96Gly) c.*184C>G (n.*184C>G) c.*111C>G (n.*111C>G) c.44C>G (p.Ala15Gly) c.377C>G (p.Ala126Gly) | |
| 7 | g.117530912C>T | CA368974232 | CFTR | c.287C>T (p.Ala96Val) c.*184C>T (n.*184C>T) c.*111C>T (n.*111C>T) c.44C>T (p.Ala15Val) c.377C>T (p.Ala126Val) | |
| 7 | g.117530913_117530921del | CA2580076278 | CFTR | c.288_296del (p.Val97_Pro99del) c.*185_*193del (n.*185_*193del) c.*112_*120del (n.*112_*120del) c.45_53del (p.Val16_Pro18del) c.378_386del (p.Val127_Pro129del) | ClinVar |
| 7 | g.117530913A>C | CA457448535 | CFTR | c.288A>C (p.Ala96=) c.*185A>C (n.*185A>C) c.*112A>C (n.*112A>C) c.45A>C (p.Ala15=) c.378A>C (p.Ala126=) | ClinVar |
| 7 | g.117530913A>G | CA457448537 | CFTR | c.288A>G (p.Ala96=) c.*185A>G (n.*185A>G) c.*112A>G (n.*112A>G) c.45A>G (p.Ala15=) c.378A>G (p.Ala126=) | ClinVar dbSNP |
| 7 | g.117530913A>T | CA457448539 | CFTR | c.288A>T (p.Ala96=) c.*185A>T (n.*185A>T) c.*112A>T (n.*112A>T) c.45A>T (p.Ala15=) c.378A>T (p.Ala126=) | COSMIC |
| 7 | g.117530914G>A | CA368974234 | CFTR | c.289G>A (p.Val97Ile) c.*186G>A (n.*186G>A) c.*113G>A (n.*113G>A) c.46G>A (p.Val16Ile) c.379G>A (p.Val127Ile) | |
| 7 | g.117530914G>C | CA368974236 | CFTR | c.289G>C (p.Val97Leu) c.*186G>C (n.*186G>C) c.*113G>C (n.*113G>C) c.46G>C (p.Val16Leu) c.379G>C (p.Val127Leu) | dbSNP gnomAD v4 |
| 7 | g.117530914G= | CA1737359135 | CFTR | c.289G= (p.Val97=) c.*186G= (n.*186G=) c.*113G= (n.*113G=) c.46G= (p.Val16=) c.379G= (p.Val127=) | |
| 7 | g.117530914G>T | CA368974237 | CFTR | c.289G>T (p.Val97Leu) c.*186G>T (n.*186G>T) c.*113G>T (n.*113G>T) c.46G>T (p.Val16Leu) c.379G>T (p.Val127Leu) | COSMIC |
| 7 | g.117530914_117530922del | CA2695208291 | CFTR | c.289_297del (p.Val97_Pro99del) c.*186_*194del (n.*186_*194del) c.*113_*121del (n.*113_*121del) c.46_54del (p.Val16_Pro18del) c.379_387del (p.Val127_Pro129del) | |
| 7 | g.117530915T>A | CA368974240 | CFTR | c.290T>A (p.Val97Glu) c.*187T>A (n.*187T>A) c.*114T>A (n.*114T>A) c.47T>A (p.Val16Glu) c.380T>A (p.Val127Glu) | |
| 7 | g.117530915T>C | CA368974244 | CFTR | c.290T>C (p.Val97Ala) c.*187T>C (n.*187T>C) c.*114T>C (n.*114T>C) c.47T>C (p.Val16Ala) c.380T>C (p.Val127Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530915T>G | CA368974242 | CFTR | c.290T>G (p.Val97Gly) c.*187T>G (n.*187T>G) c.*114T>G (n.*114T>G) c.47T>G (p.Val16Gly) c.380T>G (p.Val127Gly) | |
| 7 | g.117530915T= | CA1737359138 | CFTR | c.290T= (p.Val97=) c.*187T= (n.*187T=) c.*114T= (n.*114T=) c.47T= (p.Val16=) c.380T= (p.Val127=) | |
| 7 | g.117530916A= | CA1737359141 | CFTR | c.291A= (p.Val97=) c.*188A= (n.*188A=) c.*115A= (n.*115A=) c.48A= (p.Val16=) c.381A= (p.Val127=) | |
| 7 | g.117530916A>C | CA457448541 | CFTR | c.291A>C (p.Val97=) c.*188A>C (n.*188A>C) c.*115A>C (n.*115A>C) c.48A>C (p.Val16=) c.381A>C (p.Val127=) | |
| 7 | g.117530916A>G | CA457448542 | CFTR | c.291A>G (p.Val97=) c.*188A>G (n.*188A>G) c.*115A>G (n.*115A>G) c.48A>G (p.Val16=) c.381A>G (p.Val127=) | ClinVar dbSNP |
| 7 | g.117530916A>T | CA457448544 | CFTR | c.291A>T (p.Val97=) c.*188A>T (n.*188A>T) c.*115A>T (n.*115A>T) c.48A>T (p.Val16=) c.381A>T (p.Val127=) | |
| 7 | g.117530917C>A | CA368974246 | CFTR | c.292C>A (p.Gln98Lys) c.*189C>A (n.*189C>A) c.*116C>A (n.*116C>A) c.49C>A (p.Gln17Lys) c.382C>A (p.Gln128Lys) | |
| 7 | g.117530917C= | CA1737359145 | CFTR | c.292C= (p.Gln98=) c.*189C= (n.*189C=) c.*116C= (n.*116C=) c.49C= (p.Gln17=) c.382C= (p.Gln128=) | |
| 7 | g.117530917C>G | CA368974249 | CFTR | c.292C>G (p.Gln98Glu) c.*189C>G (n.*189C>G) c.*116C>G (n.*116C>G) c.49C>G (p.Gln17Glu) c.382C>G (p.Gln128Glu) | |
| 7 | g.117530917C>T | CA345317 | CFTR | c.292C>T (p.Gln98Ter) c.*189C>T (n.*189C>T) c.*116C>T (n.*116C>T) c.49C>T (p.Gln17Ter) c.382C>T (p.Gln128Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530918A= | CA1737359150 | CFTR | c.293A= (p.Gln98=) c.*190A= (n.*190A=) c.*117A= (n.*117A=) c.50A= (p.Gln17=) c.383A= (p.Gln128=) | |
| 7 | g.117530918A>C | CA326983 | CFTR | c.293A>C (p.Gln98Pro) c.*190A>C (n.*190A>C) c.*117A>C (n.*117A>C) c.50A>C (p.Gln17Pro) c.383A>C (p.Gln128Pro) | ClinVar dbSNP |
| 7 | g.117530918A>G | CA326985 | CFTR | c.293A>G (p.Gln98Arg) c.*190A>G (n.*190A>G) c.*117A>G (n.*117A>G) c.50A>G (p.Gln17Arg) c.383A>G (p.Gln128Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530918A>T | CA368974254 | CFTR | c.293A>T (p.Gln98Leu) c.*190A>T (n.*190A>T) c.*117A>T (n.*117A>T) c.50A>T (p.Gln17Leu) c.383A>T (p.Gln128Leu) | |
| 7 | g.117530919_117530960del | CA2695208292 | CFTR | c.294_335del (p.Gln98_Asp112delinsHis) c.*191_*232del (n.*191_*232del) c.*118_*159del (n.*118_*159del) c.51_92del (p.Gln17_Asp31delinsHis) c.384_425del (p.Gln128_Asp142delinsHis) | |
| 7 | g.117530919G>A | CA457448547 | CFTR | c.294G>A (p.Gln98=) c.*191G>A (n.*191G>A) c.*118G>A (n.*118G>A) c.51G>A (p.Gln17=) c.384G>A (p.Gln128=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530919G>C | CA368974256 | CFTR | c.294G>C (p.Gln98His) c.*191G>C (n.*191G>C) c.*118G>C (n.*118G>C) c.51G>C (p.Gln17His) c.384G>C (p.Gln128His) | |
| 7 | g.117530919G= | CA1737359154 | CFTR | c.294G= (p.Gln98=) c.*191G= (n.*191G=) c.*118G= (n.*118G=) c.51G= (p.Gln17=) c.384G= (p.Gln128=) | |
| 7 | g.117530919G>T | CA368974258 | CFTR | c.294G>T (p.Gln98His) c.*191G>T (n.*191G>T) c.*118G>T (n.*118G>T) c.51G>T (p.Gln17His) c.384G>T (p.Gln128His) | |
| 7 | g.117530920C>A | CA368974261 | CFTR | c.295C>A (p.Pro99Thr) c.*192C>A (n.*192C>A) c.*119C>A (n.*119C>A) c.52C>A (p.Pro18Thr) c.385C>A (p.Pro129Thr) | gnomAD v4 |
| 7 | g.117530920C= | CA1737359159 | CFTR | c.295C= (p.Pro99=) c.*192C= (n.*192C=) c.*119C= (n.*119C=) c.52C= (p.Pro18=) c.385C= (p.Pro129=) | |
| 7 | g.117530920C>G | CA164943588 | CFTR | c.295C>G (p.Pro99Ala) c.*192C>G (n.*192C>G) c.*119C>G (n.*119C>G) c.52C>G (p.Pro18Ala) c.385C>G (p.Pro129Ala) | ClinVar dbSNP |
| 7 | g.117530920C>T | CA368974263 | CFTR | c.295C>T (p.Pro99Ser) c.*192C>T (n.*192C>T) c.*119C>T (n.*119C>T) c.52C>T (p.Pro18Ser) c.385C>T (p.Pro129Ser) | |
| 7 | g.117530921C>A | CA368974264 | CFTR | c.296C>A (p.Pro99His) c.*193C>A (n.*193C>A) c.*120C>A (n.*120C>A) c.53C>A (p.Pro18His) c.386C>A (p.Pro129His) | |
| 7 | g.117530921C= | CA1737359165 | CFTR | c.296C= (p.Pro99=) c.*193C= (n.*193C=) c.*120C= (n.*120C=) c.53C= (p.Pro18=) c.386C= (p.Pro129=) | |
| 7 | g.117530921C>G | CA368974267 | CFTR | c.296C>G (p.Pro99Arg) c.*193C>G (n.*193C>G) c.*120C>G (n.*120C>G) c.53C>G (p.Pro18Arg) c.386C>G (p.Pro129Arg) | ClinVar |
| 7 | g.117530921C>T | CA326991 | CFTR | c.296C>T (p.Pro99Leu) c.*193C>T (n.*193C>T) c.*120C>T (n.*120C>T) c.53C>T (p.Pro18Leu) c.386C>T (p.Pro129Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530925_117530926del | CA2580617092 | CFTR | c.300_301del (p.Leu101ThrfsTer9) c.*197_*198del (n.*197_*198del) c.*124_*125del (n.*124_*125del) c.57_58del (p.Leu20ThrfsTer9) c.390_391del (p.Leu131ThrfsTer9) | ClinVar dbSNP |
| 7 | g.117530922T>A | CA457448550 | CFTR | c.297T>A (p.Pro99=) c.*194T>A (n.*194T>A) c.*121T>A (n.*121T>A) c.54T>A (p.Pro18=) c.387T>A (p.Pro129=) | |
| 7 | g.117530922T>C | CA457448551 | CFTR | c.297T>C (p.Pro99=) c.*194T>C (n.*194T>C) c.*121T>C (n.*121T>C) c.54T>C (p.Pro18=) c.387T>C (p.Pro129=) | |
| 7 | g.117530922T>G | CA457448553 | CFTR | c.297T>G (p.Pro99=) c.*194T>G (n.*194T>G) c.*121T>G (n.*121T>G) c.54T>G (p.Pro18=) c.387T>G (p.Pro129=) | ClinVar dbSNP |
| 7 | g.117530923C>A | CA368974270 | CFTR | c.298C>A (p.Leu100Ile) c.*195C>A (n.*195C>A) c.*122C>A (n.*122C>A) c.55C>A (p.Leu19Ile) c.388C>A (p.Leu130Ile) | |
| 7 | g.117530923C= | CA1737359169 | CFTR | c.298C= (p.Leu100=) c.*195C= (n.*195C=) c.*122C= (n.*122C=) c.55C= (p.Leu19=) c.388C= (p.Leu130=) | |
| 7 | g.117530923C>G | CA4450701 | CFTR | c.298C>G (p.Leu100Val) c.*195C>G (n.*195C>G) c.*122C>G (n.*122C>G) c.55C>G (p.Leu19Val) c.388C>G (p.Leu130Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530923C>T | CA368974272 | CFTR | c.298C>T (p.Leu100Phe) c.*195C>T (n.*195C>T) c.*122C>T (n.*122C>T) c.55C>T (p.Leu19Phe) c.388C>T (p.Leu130Phe) | ClinVar dbSNP |
| 7 | g.117530924del | CA2695208293 | CFTR | c.299del (p.Leu100ProfsTer7) c.*196del (n.*196del) c.*123del (n.*123del) c.56del (p.Leu19ProfsTer7) c.389del (p.Leu130ProfsTer7) | |
| 7 | g.117530924T>A | CA368974274 | CFTR | c.299T>A (p.Leu100His) c.*196T>A (n.*196T>A) c.*123T>A (n.*123T>A) c.56T>A (p.Leu19His) c.389T>A (p.Leu130His) | ClinVar |
| 7 | g.117530924T>C | CA368974276 | CFTR | c.299T>C (p.Leu100Pro) c.*196T>C (n.*196T>C) c.*123T>C (n.*123T>C) c.56T>C (p.Leu19Pro) c.389T>C (p.Leu130Pro) | |
| 7 | g.117530924T>G | CA368974277 | CFTR | c.299T>G (p.Leu100Arg) c.*196T>G (n.*196T>G) c.*123T>G (n.*123T>G) c.56T>G (p.Leu19Arg) c.389T>G (p.Leu130Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117530924T= | CA1737359172 | CFTR | c.299T= (p.Leu100=) c.*196T= (n.*196T=) c.*123T= (n.*123T=) c.56T= (p.Leu19=) c.389T= (p.Leu130=) | |
| 7 | g.117530925C>A | CA457448555 | CFTR | c.300C>A (p.Leu100=) c.*197C>A (n.*197C>A) c.*124C>A (n.*124C>A) c.57C>A (p.Leu19=) c.390C>A (p.Leu130=) | |
| 7 | g.117530925C= | CA1737359174 | CFTR | c.300C= (p.Leu100=) c.*197C= (n.*197C=) c.*124C= (n.*124C=) c.57C= (p.Leu19=) c.390C= (p.Leu130=) | |
| 7 | g.117530925C>G | CA457448557 | CFTR | c.300C>G (p.Leu100=) c.*197C>G (n.*197C>G) c.*124C>G (n.*124C>G) c.57C>G (p.Leu19=) c.390C>G (p.Leu130=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530925C>T | CA457448559 | CFTR | c.300C>T (p.Leu100=) c.*197C>T (n.*197C>T) c.*124C>T (n.*124C>T) c.57C>T (p.Leu19=) c.390C>T (p.Leu130=) | ClinVar dbSNP |
| 7 | g.117530926T>A | CA368974280 | CFTR | c.301T>A (p.Leu101Ile) c.*198T>A (n.*198T>A) c.*125T>A (n.*125T>A) c.58T>A (p.Leu20Ile) c.391T>A (p.Leu131Ile) | |
| 7 | g.117530926T>C | CA457448561 | CFTR | c.301T>C (p.Leu101=) c.*198T>C (n.*198T>C) c.*125T>C (n.*125T>C) c.58T>C (p.Leu20=) c.391T>C (p.Leu131=) | |
| 7 | g.117530926T>G | CA368974282 | CFTR | c.301T>G (p.Leu101Val) c.*198T>G (n.*198T>G) c.*125T>G (n.*125T>G) c.58T>G (p.Leu20Val) c.391T>G (p.Leu131Val) | |
| 7 | g.117530927T>A | CA368974284 | CFTR | c.302T>A (p.Leu101Ter) c.*199T>A (n.*199T>A) c.*126T>A (n.*126T>A) c.59T>A (p.Leu20Ter) c.392T>A (p.Leu131Ter) | |
| 7 | g.117530927T>C | CA327018 | CFTR | c.302T>C (p.Leu101Ser) c.*199T>C (n.*199T>C) c.*126T>C (n.*126T>C) c.59T>C (p.Leu20Ser) c.392T>C (p.Leu131Ser) | dbSNP |
| 7 | g.117530927T>G | CA327020 | CFTR | c.302T>G (p.Leu101Ter) c.*199T>G (n.*199T>G) c.*126T>G (n.*126T>G) c.59T>G (p.Leu20Ter) c.392T>G (p.Leu131Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530927T= | CA1737359183 | CFTR | c.302T= (p.Leu101=) c.*199T= (n.*199T=) c.*126T= (n.*126T=) c.59T= (p.Leu20=) c.392T= (p.Leu131=) | |
| 7 | g.117530928A>C | CA368974287 | CFTR | c.303A>C (p.Leu101Phe) c.*200A>C (n.*200A>C) c.*127A>C (n.*127A>C) c.60A>C (p.Leu20Phe) c.393A>C (p.Leu131Phe) | gnomAD v4 |
| 7 | g.117530928A>G | CA457448562 | CFTR | c.303A>G (p.Leu101=) c.*200A>G (n.*200A>G) c.*127A>G (n.*127A>G) c.60A>G (p.Leu20=) c.393A>G (p.Leu131=) | ClinVar |
| 7 | g.117530928A>T | CA368974289 | CFTR | c.303A>T (p.Leu101Phe) c.*200A>T (n.*200A>T) c.*127A>T (n.*127A>T) c.60A>T (p.Leu20Phe) c.393A>T (p.Leu131Phe) | COSMIC |
| 7 | g.117530928dup | CA327025 | CFTR | c.303dup (p.Leu102ThrfsTer9) c.*200dup (n.*200dup) c.*127dup (n.*127dup) c.60dup (p.Leu21ThrfsTer9) c.393dup (p.Leu132ThrfsTer9) | ClinVar dbSNP |
| 7 | g.117530929C>A | CA368974291 | CFTR | c.304C>A (p.Leu102Met) c.*201C>A (n.*201C>A) c.*128C>A (n.*128C>A) c.61C>A (p.Leu21Met) c.394C>A (p.Leu132Met) | |
| 7 | g.117530929C= | CA1737359194 | CFTR | c.304C= (p.Leu102=) c.*201C= (n.*201C=) c.*128C= (n.*128C=) c.61C= (p.Leu21=) c.394C= (p.Leu132=) | |
| 7 | g.117530929C>G | CA368974293 | CFTR | c.304C>G (p.Leu102Val) c.*201C>G (n.*201C>G) c.*128C>G (n.*128C>G) c.61C>G (p.Leu21Val) c.394C>G (p.Leu132Val) | dbSNP |
| 7 | g.117530929C>T | CA457448564 | CFTR | c.304C>T (p.Leu102=) c.*201C>T (n.*201C>T) c.*128C>T (n.*128C>T) c.61C>T (p.Leu21=) c.394C>T (p.Leu132=) | ClinVar dbSNP |
| 7 | g.117530930T>A | CA368974295 | CFTR | c.305T>A (p.Leu102Gln) c.*202T>A (n.*202T>A) c.*129T>A (n.*129T>A) c.62T>A (p.Leu21Gln) c.395T>A (p.Leu132Gln) | |
| 7 | g.117530930T>C | CA327031 | CFTR | c.305T>C (p.Leu102Pro) c.*202T>C (n.*202T>C) c.*129T>C (n.*129T>C) c.62T>C (p.Leu21Pro) c.395T>C (p.Leu132Pro) | ClinVar dbSNP |
| 7 | g.117530930T>G | CA4450702 | CFTR | c.305T>G (p.Leu102Arg) c.*202T>G (n.*202T>G) c.*129T>G (n.*129T>G) c.62T>G (p.Leu21Arg) c.395T>G (p.Leu132Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530930T= | CA1737359197 | CFTR | c.305T= (p.Leu102=) c.*202T= (n.*202T=) c.*129T= (n.*129T=) c.62T= (p.Leu21=) c.395T= (p.Leu132=) | |
| 7 | g.117530930_117530931delinsTG | CA1737359200 | CFTR | c.305_306delinsTG (p.Leu102=) c.*202_*203delinsTG (n.*202_*203delinsTG) c.*129_*130delinsTG (n.*129_*130delinsTG) c.62_63delinsTG (p.Leu21=) c.395_396delinsTG (p.Leu132=) | |
| 7 | g.117530931G>A | CA457448568 | CFTR | c.306G>A (p.Leu102=) c.*203G>A (n.*203G>A) c.*130G>A (n.*130G>A) c.63G>A (p.Leu21=) c.396G>A (p.Leu132=) | |
| 7 | g.117530931G>C | CA457448567 | CFTR | c.306G>C (p.Leu102=) c.*203G>C (n.*203G>C) c.*130G>C (n.*130G>C) c.63G>C (p.Leu21=) c.396G>C (p.Leu132=) | |
| 7 | g.117530931G= | CA1737359205 | CFTR | c.306G= (p.Leu102=) c.*203G= (n.*203G=) c.*130G= (n.*130G=) c.63G= (p.Leu21=) c.396G= (p.Leu132=) | |
| 7 | g.117530931G>T | CA457448566 | CFTR | c.306G>T (p.Leu102=) c.*203G>T (n.*203G>T) c.*130G>T (n.*130G>T) c.63G>T (p.Leu21=) c.396G>T (p.Leu132=) | ClinVar dbSNP |
| 7 | g.117530933del | CA1737359204 | CFTR | c.308del (p.Gly103GlufsTer4) c.*205del (n.*205del) c.*132del (n.*132del) c.65del (p.Gly22GlufsTer4) c.398del (p.Gly133GlufsTer4) | ClinVar dbSNP |
| 7 | g.117530932G>A | CA368974299 | CFTR | c.307G>A (p.Gly103Arg) c.*204G>A (n.*204G>A) c.*131G>A (n.*131G>A) c.64G>A (p.Gly22Arg) c.397G>A (p.Gly133Arg) | ClinVar dbSNP |
| 7 | g.117530932G>C | CA368974301 | CFTR | c.307G>C (p.Gly103Arg) c.*204G>C (n.*204G>C) c.*131G>C (n.*131G>C) c.64G>C (p.Gly22Arg) c.397G>C (p.Gly133Arg) | |
| 7 | g.117530932G= | CA1737359208 | CFTR | c.307G= (p.Gly103=) c.*204G= (n.*204G=) c.*131G= (n.*131G=) c.64G= (p.Gly22=) c.397G= (p.Gly133=) | |
| 7 | g.117530932G>T | CA368974303 | CFTR | c.307G>T (p.Gly103Ter) c.*204G>T (n.*204G>T) c.*131G>T (n.*131G>T) c.64G>T (p.Gly22Ter) c.397G>T (p.Gly133Ter) | ClinVar dbSNP |
| 7 | g.117530933G>A | CA368974305 | CFTR | c.308G>A (p.Gly103Glu) c.*205G>A (n.*205G>A) c.*132G>A (n.*132G>A) c.65G>A (p.Gly22Glu) c.398G>A (p.Gly133Glu) | COSMIC |
| 7 | g.117530933G>C | CA368974307 | CFTR | c.308G>C (p.Gly103Ala) c.*205G>C (n.*205G>C) c.*132G>C (n.*132G>C) c.65G>C (p.Gly22Ala) c.398G>C (p.Gly133Ala) | |
| 7 | g.117530933G>T | CA368974309 | CFTR | c.308G>T (p.Gly103Val) c.*205G>T (n.*205G>T) c.*132G>T (n.*132G>T) c.65G>T (p.Gly22Val) c.398G>T (p.Gly133Val) | |
| 7 | g.117530933_117530934delinsGA | CA1737359216 | CFTR | c.308_309delinsGA (p.Gly103=) c.*205_*206delinsGA (n.*205_*206delinsGA) c.*132_*133delinsGA (n.*132_*133delinsGA) c.65_66delinsGA (p.Gly22=) c.398_399delinsGA (p.Gly133=) | |
| 7 | g.117530934A>C | CA457448573 | CFTR | c.309A>C (p.Gly103=) c.*206A>C (n.*206A>C) c.*133A>C (n.*133A>C) c.66A>C (p.Gly22=) c.399A>C (p.Gly133=) | |
| 7 | g.117530934A>G | CA457448576 | CFTR | c.309A>G (p.Gly103=) c.*206A>G (n.*206A>G) c.*133A>G (n.*133A>G) c.66A>G (p.Gly22=) c.399A>G (p.Gly133=) | ClinVar |
| 7 | g.117530934A>T | CA457448574 | CFTR | c.309A>T (p.Gly103=) c.*206A>T (n.*206A>T) c.*133A>T (n.*133A>T) c.66A>T (p.Gly22=) c.399A>T (p.Gly133=) | |
| 7 | g.117530935del | CA327048 | CFTR | c.310del (p.Arg104GlufsTer3) c.*207del (n.*207del) c.*134del (n.*134del) c.67del (p.Arg23GlufsTer3) c.400del (p.Arg134GlufsTer3) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530935A= | CA1737359220 | CFTR | c.310A= (p.Arg104=) c.*207A= (n.*207A=) c.*134A= (n.*134A=) c.67A= (p.Arg23=) c.400A= (p.Arg134=) | |
| 7 | g.117530935A>C | CA457448577 | CFTR | c.310A>C (p.Arg104=) c.*207A>C (n.*207A>C) c.*134A>C (n.*134A>C) c.67A>C (p.Arg23=) c.400A>C (p.Arg134=) | |
| 7 | g.117530935A>G | CA4450703 | CFTR | c.310A>G (p.Arg104Gly) c.*207A>G (n.*207A>G) c.*134A>G (n.*134A>G) c.67A>G (p.Arg23Gly) c.400A>G (p.Arg134Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530935A>T | CA368974312 | CFTR | c.310A>T (p.Arg104Ter) c.*207A>T (n.*207A>T) c.*134A>T (n.*134A>T) c.67A>T (p.Arg23Ter) c.400A>T (p.Arg134Ter) | |
| 7 | g.117530936G>A | CA164943615 | CFTR | c.311G>A (p.Arg104Lys) c.*208G>A (n.*208G>A) c.*135G>A (n.*135G>A) c.68G>A (p.Arg23Lys) c.401G>A (p.Arg134Lys) | dbSNP |
| 7 | g.117530936G>C | CA368974317 | CFTR | c.311G>C (p.Arg104Thr) c.*208G>C (n.*208G>C) c.*135G>C (n.*135G>C) c.68G>C (p.Arg23Thr) c.401G>C (p.Arg134Thr) | ClinVar |
| 7 | g.117530936G= | CA1737359224 | CFTR | c.311G= (p.Arg104=) c.*208G= (n.*208G=) c.*135G= (n.*135G=) c.68G= (p.Arg23=) c.401G= (p.Arg134=) | |
| 7 | g.117530936G>T | CA368974314 | CFTR | c.311G>T (p.Arg104Ile) c.*208G>T (n.*208G>T) c.*135G>T (n.*135G>T) c.68G>T (p.Arg23Ile) c.401G>T (p.Arg134Ile) | |
| 7 | g.117530936_117530937delinsGA | CA1737359223 | CFTR | c.311_312delinsGA (p.Arg104=) c.*208_*209delinsGA (n.*208_*209delinsGA) c.*135_*136delinsGA (n.*135_*136delinsGA) c.68_69delinsGA (p.Arg23=) c.401_402delinsGA (p.Arg134=) | |
| 7 | g.117530937A>C | CA368974320 | CFTR | c.312A>C (p.Arg104Ser) c.*209A>C (n.*209A>C) c.*136A>C (n.*136A>C) c.69A>C (p.Arg23Ser) c.402A>C (p.Arg134Ser) | |
| 7 | g.117530937A>G | CA457448582 | CFTR | c.312A>G (p.Arg104=) c.*209A>G (n.*209A>G) c.*136A>G (n.*136A>G) c.69A>G (p.Arg23=) c.402A>G (p.Arg134=) | ClinVar dbSNP |
| 7 | g.117530937A>T | CA368974324 | CFTR | c.312A>T (p.Arg104Ser) c.*209A>T (n.*209A>T) c.*136A>T (n.*136A>T) c.69A>T (p.Arg23Ser) c.402A>T (p.Arg134Ser) | |
| 7 | g.117530938del | CA327059 | CFTR | c.313del (p.Ile105SerfsTer2) c.*210del (n.*210del) c.*137del (n.*137del) c.70del (p.Ile24SerfsTer2) c.403del (p.Ile135SerfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530938A= | CA1737359230 | CFTR | c.313A= (p.Ile105=) c.*210A= (n.*210A=) c.*137A= (n.*137A=) c.70A= (p.Ile24=) c.403A= (p.Ile135=) | |
| 7 | g.117530938A>C | CA368974329 | CFTR | c.313A>C (p.Ile105Leu) c.*210A>C (n.*210A>C) c.*137A>C (n.*137A>C) c.70A>C (p.Ile24Leu) c.403A>C (p.Ile135Leu) | ClinVar dbSNP |
| 7 | g.117530938A>G | CA4450704 | CFTR | c.313A>G (p.Ile105Val) c.*210A>G (n.*210A>G) c.*137A>G (n.*137A>G) c.70A>G (p.Ile24Val) c.403A>G (p.Ile135Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530938A>T | CA368974332 | CFTR | c.313A>T (p.Ile105Phe) c.*210A>T (n.*210A>T) c.*137A>T (n.*137A>T) c.70A>T (p.Ile24Phe) c.403A>T (p.Ile135Phe) | |
| 7 | g.117530939T>A | CA327065 | CFTR | c.314T>A (p.Ile105Asn) c.*211T>A (n.*211T>A) c.*138T>A (n.*138T>A) c.71T>A (p.Ile24Asn) c.404T>A (p.Ile135Asn) | ClinVar dbSNP |
| 7 | g.117530939T>C | CA368974338 | CFTR | c.314T>C (p.Ile105Thr) c.*211T>C (n.*211T>C) c.*138T>C (n.*138T>C) c.71T>C (p.Ile24Thr) c.404T>C (p.Ile135Thr) | |
| 7 | g.117530939T>G | CA368974336 | CFTR | c.314T>G (p.Ile105Ser) c.*211T>G (n.*211T>G) c.*138T>G (n.*138T>G) c.71T>G (p.Ile24Ser) c.404T>G (p.Ile135Ser) | gnomAD v4 |
| 7 | g.117530939T= | CA1737359233 | CFTR | c.314T= (p.Ile105=) c.*211T= (n.*211T=) c.*138T= (n.*138T=) c.71T= (p.Ile24=) c.404T= (p.Ile135=) | |
| 7 | g.117530940C>A | CA457448586 | CFTR | c.315C>A (p.Ile105=) c.*212C>A (n.*212C>A) c.*139C>A (n.*139C>A) c.72C>A (p.Ile24=) c.405C>A (p.Ile135=) | |
| 7 | g.117530940C>G | CA368974340 | CFTR | c.315C>G (p.Ile105Met) c.*212C>G (n.*212C>G) c.*139C>G (n.*139C>G) c.72C>G (p.Ile24Met) c.405C>G (p.Ile135Met) | gnomAD v4 |
| 7 | g.117530940C>T | CA457448587 | CFTR | c.315C>T (p.Ile105=) c.*212C>T (n.*212C>T) c.*139C>T (n.*139C>T) c.72C>T (p.Ile24=) c.405C>T (p.Ile135=) | gnomAD v4 |
| 7 | g.117530941A= | CA1737359238 | CFTR | c.316A= (p.Ile106=) c.*213A= (n.*213A=) c.*140A= (n.*140A=) c.73A= (p.Ile25=) c.406A= (p.Ile136=) | |
| 7 | g.117530941A>C | CA368974342 | CFTR | c.316A>C (p.Ile106Leu) c.*213A>C (n.*213A>C) c.*140A>C (n.*140A>C) c.73A>C (p.Ile25Leu) c.406A>C (p.Ile136Leu) | |
| 7 | g.117530941A>G | CA164943625 | CFTR | c.316A>G (p.Ile106Val) c.*213A>G (n.*213A>G) c.*140A>G (n.*140A>G) c.73A>G (p.Ile25Val) c.406A>G (p.Ile136Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530941A>T | CA368974345 | CFTR | c.316A>T (p.Ile106Leu) c.*213A>T (n.*213A>T) c.*140A>T (n.*140A>T) c.73A>T (p.Ile25Leu) c.406A>T (p.Ile136Leu) | |
| 7 | g.117530941_117530949delinsATAGCTTCC | CA1737359237 | CFTR | c.316_324delinsATAGCTTCC (p.Ile106=) c.*213_*221delinsATAGCTTCC (n.*213_*221delinsATAGCTTCC) c.*140_*148delinsATAGCTTCC (n.*140_*148delinsATAGCTTCC) c.73_81delinsATAGCTTCC (p.Ile25=) c.406_414delinsATAGCTTCC (p.Ile136=) | |
| 7 | g.117530942T>A | CA368974348 | CFTR | c.317T>A (p.Ile106Lys) c.*214T>A (n.*214T>A) c.*141T>A (n.*141T>A) c.74T>A (p.Ile25Lys) c.407T>A (p.Ile136Lys) | |
| 7 | g.117530942T>C | CA368974353 | CFTR | c.317T>C (p.Ile106Thr) c.*214T>C (n.*214T>C) c.*141T>C (n.*141T>C) c.74T>C (p.Ile25Thr) c.407T>C (p.Ile136Thr) | ClinVar gnomAD v4 |
| 7 | g.117530942T>G | CA368974351 | CFTR | c.317T>G (p.Ile106Arg) c.*214T>G (n.*214T>G) c.*141T>G (n.*141T>G) c.74T>G (p.Ile25Arg) c.407T>G (p.Ile136Arg) | |
| 7 | g.117530944_117530951del | CA327090 | CFTR | c.319_326del (p.Ala107Ter) c.*216_*223del (n.*216_*223del) c.*143_*150del (n.*143_*150del) c.76_83del (p.Ala26Ter) c.409_416del (p.Ala137Ter) | ClinVar dbSNP |
| 7 | g.117530943A>C | CA457448590 | CFTR | c.318A>C (p.Ile106=) c.*215A>C (n.*215A>C) c.*142A>C (n.*142A>C) c.75A>C (p.Ile25=) c.408A>C (p.Ile136=) | |
| 7 | g.117530943A>G | CA368974362 | CFTR | c.318A>G (p.Ile106Met) c.*215A>G (n.*215A>G) c.*142A>G (n.*142A>G) c.75A>G (p.Ile25Met) c.408A>G (p.Ile136Met) | gnomAD v4 |
| 7 | g.117530943A>T | CA457448589 | CFTR | c.318A>T (p.Ile106=) c.*215A>T (n.*215A>T) c.*142A>T (n.*142A>T) c.75A>T (p.Ile25=) c.408A>T (p.Ile136=) | |
| 7 | g.117530944G>A | CA368974364 | CFTR | c.319G>A (p.Ala107Thr) c.*216G>A (n.*216G>A) c.*143G>A (n.*143G>A) c.76G>A (p.Ala26Thr) c.409G>A (p.Ala137Thr) | |
| 7 | g.117530944G>C | CA368974367 | CFTR | c.319G>C (p.Ala107Pro) c.*216G>C (n.*216G>C) c.*143G>C (n.*143G>C) c.76G>C (p.Ala26Pro) c.409G>C (p.Ala137Pro) | ClinVar dbSNP |
| 7 | g.117530944G= | CA1737359243 | CFTR | c.319G= (p.Ala107=) c.*216G= (n.*216G=) c.*143G= (n.*143G=) c.76G= (p.Ala26=) c.409G= (p.Ala137=) | |
| 7 | g.117530944G>T | CA368974369 | CFTR | c.319G>T (p.Ala107Ser) c.*216G>T (n.*216G>T) c.*143G>T (n.*143G>T) c.76G>T (p.Ala26Ser) c.409G>T (p.Ala137Ser) | |
| 7 | g.117530945C>A | CA368974372 | CFTR | c.320C>A (p.Ala107Asp) c.*217C>A (n.*217C>A) c.*144C>A (n.*144C>A) c.77C>A (p.Ala26Asp) c.410C>A (p.Ala137Asp) | |
| 7 | g.117530945C>G | CA368974373 | CFTR | c.320C>G (p.Ala107Gly) c.*217C>G (n.*217C>G) c.*144C>G (n.*144C>G) c.77C>G (p.Ala26Gly) c.410C>G (p.Ala137Gly) | ClinVar |
| 7 | g.117530945C>T | CA368974374 | CFTR | c.320C>T (p.Ala107Val) c.*217C>T (n.*217C>T) c.*144C>T (n.*144C>T) c.77C>T (p.Ala26Val) c.410C>T (p.Ala137Val) | |
| 7 | g.117530946T>A | CA457448595 | CFTR | c.321T>A (p.Ala107=) c.*218T>A (n.*218T>A) c.*145T>A (n.*145T>A) c.78T>A (p.Ala26=) c.411T>A (p.Ala137=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530946T>C | CA457448596 | CFTR | c.321T>C (p.Ala107=) c.*218T>C (n.*218T>C) c.*145T>C (n.*145T>C) c.78T>C (p.Ala26=) c.411T>C (p.Ala137=) | |
| 7 | g.117530946T>G | CA4450705 | CFTR | c.321T>G (p.Ala107=) c.*218T>G (n.*218T>G) c.*145T>G (n.*145T>G) c.78T>G (p.Ala26=) c.411T>G (p.Ala137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530946T= | CA1737359248 | CFTR | c.321T= (p.Ala107=) c.*218T= (n.*218T=) c.*145T= (n.*145T=) c.78T= (p.Ala26=) c.411T= (p.Ala137=) | |
| 7 | g.117530947T>A | CA368974375 | CFTR | c.322T>A (p.Ser108Thr) c.*219T>A (n.*219T>A) c.*146T>A (n.*146T>A) c.79T>A (p.Ser27Thr) c.412T>A (p.Ser138Thr) | |
| 7 | g.117530947T>C | CA368974376 | CFTR | c.322T>C (p.Ser108Pro) c.*219T>C (n.*219T>C) c.*146T>C (n.*146T>C) c.79T>C (p.Ser27Pro) c.412T>C (p.Ser138Pro) | ClinVar |
| 7 | g.117530947T>G | CA368974377 | CFTR | c.322T>G (p.Ser108Ala) c.*219T>G (n.*219T>G) c.*146T>G (n.*146T>G) c.79T>G (p.Ser27Ala) c.412T>G (p.Ser138Ala) | |
| 7 | g.117530948C>A | CA368974378 | CFTR | c.323C>A (p.Ser108Tyr) c.*220C>A (n.*220C>A) c.*147C>A (n.*147C>A) c.80C>A (p.Ser27Tyr) c.413C>A (p.Ser138Tyr) | COSMIC |
| 7 | g.117530948C= | CA1737359256 | CFTR | c.323C= (p.Ser108=) c.*220C= (n.*220C=) c.*147C= (n.*147C=) c.80C= (p.Ser27=) c.413C= (p.Ser138=) | |
| 7 | g.117530948C>G | CA368974379 | CFTR | c.323C>G (p.Ser108Cys) c.*220C>G (n.*220C>G) c.*147C>G (n.*147C>G) c.80C>G (p.Ser27Cys) c.413C>G (p.Ser138Cys) | |
| 7 | g.117530948C>T | CA327108 | CFTR | c.323C>T (p.Ser108Phe) c.*220C>T (n.*220C>T) c.*147C>T (n.*147C>T) c.80C>T (p.Ser27Phe) c.413C>T (p.Ser138Phe) | ClinVar dbSNP |
| 7 | g.117530949C>A | CA457448598 | CFTR | c.324C>A (p.Ser108=) c.*221C>A (n.*221C>A) c.*148C>A (n.*148C>A) c.81C>A (p.Ser27=) c.414C>A (p.Ser138=) | |
| 7 | g.117530949C>G | CA457448600 | CFTR | c.324C>G (p.Ser108=) c.*221C>G (n.*221C>G) c.*148C>G (n.*148C>G) c.81C>G (p.Ser27=) c.414C>G (p.Ser138=) | |
| 7 | g.117530949C>T | CA457448599 | CFTR | c.324C>T (p.Ser108=) c.*221C>T (n.*221C>T) c.*148C>T (n.*148C>T) c.81C>T (p.Ser27=) c.414C>T (p.Ser138=) | gnomAD v4 |
| 7 | g.117530949_117530952delinsCTAT | CA1737359260 | CFTR | c.324_327delinsCTAT (p.Ser108=) c.*221_*224delinsCTAT (n.*221_*224delinsCTAT) c.*148_*151delinsCTAT (n.*148_*151delinsCTAT) c.81_84delinsCTAT (p.Ser27=) c.414_417delinsCTAT (p.Ser138=) | |
| 7 | g.117530950T>A | CA327114 | CFTR | c.325T>A (p.Tyr109Asn) c.*222T>A (n.*222T>A) c.*149T>A (n.*149T>A) c.82T>A (p.Tyr28Asn) c.415T>A (p.Tyr139Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530950T>C | CA368974380 | CFTR | c.325T>C (p.Tyr109His) c.*222T>C (n.*222T>C) c.*149T>C (n.*149T>C) c.82T>C (p.Tyr28His) c.415T>C (p.Tyr139His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530950T>G | CA368974381 | CFTR | c.325T>G (p.Tyr109Asp) c.*222T>G (n.*222T>G) c.*149T>G (n.*149T>G) c.82T>G (p.Tyr28Asp) c.415T>G (p.Tyr139Asp) | dbSNP |
| 7 | g.117530950T= | CA1737359270 | CFTR | c.325T= (p.Tyr109=) c.*222T= (n.*222T=) c.*149T= (n.*149T=) c.82T= (p.Tyr28=) c.415T= (p.Tyr139=) | |
| 7 | g.117530950_117530952delinsG | CA328112 | CFTR | c.325_327delinsG (p.Tyr109GlyfsTer4) c.*222_*224delinsG (n.*222_*224delinsG) c.*149_*151delinsG (n.*149_*151delinsG) c.82_84delinsG (p.Tyr28GlyfsTer4) c.415_417delinsG (p.Tyr139GlyfsTer4) | ClinVar dbSNP |
| 7 | g.117530951_117530952del | CA327120 | CFTR | c.326_327del (p.Tyr109Ter) c.*223_*224del (n.*223_*224del) c.*150_*151del (n.*150_*151del) c.83_84del (p.Tyr28Ter) c.416_417del (p.Tyr139Ter) | ClinVar dbSNP |
| 7 | g.117530950_117530951insG | CA923726135 | CFTR | c.325_326insG (p.Tyr109Ter) c.*222_*223insG (n.*222_*223insG) c.*149_*150insG (n.*149_*150insG) c.82_83insG (p.Tyr28Ter) c.415_416insG (p.Tyr139Ter) | |
| 7 | g.117530951A= | CA1737359280 | CFTR | c.326A= (p.Tyr109=) c.*223A= (n.*223A=) c.*150A= (n.*150A=) c.83A= (p.Tyr28=) c.416A= (p.Tyr139=) | |
| 7 | g.117530951A>C | CA368974382 | CFTR | c.326A>C (p.Tyr109Ser) c.*223A>C (n.*223A>C) c.*150A>C (n.*150A>C) c.83A>C (p.Tyr28Ser) c.416A>C (p.Tyr139Ser) | |
| 7 | g.117530951A>G | CA325582 | CFTR | c.326A>G (p.Tyr109Cys) c.*223A>G (n.*223A>G) c.*150A>G (n.*150A>G) c.83A>G (p.Tyr28Cys) c.416A>G (p.Tyr139Cys) | ClinVar dbSNP COSMIC |
| 7 | g.117530951A>T | CA368974383 | CFTR | c.326A>T (p.Tyr109Phe) c.*223A>T (n.*223A>T) c.*150A>T (n.*150A>T) c.83A>T (p.Tyr28Phe) c.416A>T (p.Tyr139Phe) | |
| 7 | g.117530952T>A | CA327123 | CFTR | c.327T>A (p.Tyr109Ter) c.*224T>A (n.*224T>A) c.*151T>A (n.*151T>A) c.84T>A (p.Tyr28Ter) c.417T>A (p.Tyr139Ter) | ClinVar dbSNP |
| 7 | g.117530952T>C | CA457448601 | CFTR | c.327T>C (p.Tyr109=) c.*224T>C (n.*224T>C) c.*151T>C (n.*151T>C) c.84T>C (p.Tyr28=) c.417T>C (p.Tyr139=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530952T>G | CA368974384 | CFTR | c.327T>G (p.Tyr109Ter) c.*224T>G (n.*224T>G) c.*151T>G (n.*151T>G) c.84T>G (p.Tyr28Ter) c.417T>G (p.Tyr139Ter) | ClinVar dbSNP |
| 7 | g.117530952T= | CA1737359286 | CFTR | c.327T= (p.Tyr109=) c.*224T= (n.*224T=) c.*151T= (n.*151T=) c.84T= (p.Tyr28=) c.417T= (p.Tyr139=) | |
| 7 | g.117530952_117530953delinsTG | CA1737359289 | CFTR | c.327_328delinsTG (p.Tyr109=) c.*224_*225delinsTG (n.*224_*225delinsTG) c.*151_*152delinsTG (n.*151_*152delinsTG) c.84_85delinsTG (p.Tyr28=) c.417_418delinsTG (p.Tyr139=) | |
| 7 | g.117530953del | CA327129 | CFTR | c.328del (p.Asp110ThrfsTer14) c.*225del (n.*225del) c.*152del (n.*152del) c.85del (p.Asp29ThrfsTer14) c.85del (p.Asp29ThrfsTer?) c.418del (p.Asp140ThrfsTer14) | ClinVar dbSNP |
| 7 | g.117530953G>A | CA368974385 | CFTR | c.328G>A (p.Asp110Asn) c.*225G>A (n.*225G>A) c.*152G>A (n.*152G>A) c.85G>A (p.Asp29Asn) c.418G>A (p.Asp140Asn) | ClinVar dbSNP |
| 7 | g.117530953G>C | CA284835 | CFTR | c.328G>C (p.Asp110His) c.*225G>C (n.*225G>C) c.*152G>C (n.*152G>C) c.85G>C (p.Asp29His) c.418G>C (p.Asp140His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530953G= | CA1737359299 | CFTR | c.328G= (p.Asp110=) c.*225G= (n.*225G=) c.*152G= (n.*152G=) c.85G= (p.Asp29=) c.418G= (p.Asp140=) | |
| 7 | g.117530953G>T | CA327127 | CFTR | c.328G>T (p.Asp110Tyr) c.*225G>T (n.*225G>T) c.*152G>T (n.*152G>T) c.85G>T (p.Asp29Tyr) c.418G>T (p.Asp140Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117530954A>C | CA368974386 | CFTR | c.329A>C (p.Asp110Ala) c.*226A>C (n.*226A>C) c.*153A>C (n.*153A>C) c.86A>C (p.Asp29Ala) c.419A>C (p.Asp140Ala) | |
| 7 | g.117530954A>G | CA368974387 | CFTR | c.329A>G (p.Asp110Gly) c.*226A>G (n.*226A>G) c.*153A>G (n.*153A>G) c.86A>G (p.Asp29Gly) c.419A>G (p.Asp140Gly) | |
| 7 | g.117530954A>T | CA368974389 | CFTR | c.329A>T (p.Asp110Val) c.*226A>T (n.*226A>T) c.*153A>T (n.*153A>T) c.86A>T (p.Asp29Val) c.419A>T (p.Asp140Val) | ClinVar |
| 7 | g.117530955C>A | CA327140 | CFTR | c.330C>A (p.Asp110Glu) c.*227C>A (n.*227C>A) c.*154C>A (n.*154C>A) c.87C>A (p.Asp29Glu) c.420C>A (p.Asp140Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530955C= | CA1737359306 | CFTR | c.330C= (p.Asp110=) c.*227C= (n.*227C=) c.*154C= (n.*154C=) c.87C= (p.Asp29=) c.420C= (p.Asp140=) | |
| 7 | g.117530955C>G | CA368974391 | CFTR | c.330C>G (p.Asp110Glu) c.*227C>G (n.*227C>G) c.*154C>G (n.*154C>G) c.87C>G (p.Asp29Glu) c.420C>G (p.Asp140Glu) | ClinVar |
| 7 | g.117530955C>T | CA457448602 | CFTR | c.330C>T (p.Asp110=) c.*227C>T (n.*227C>T) c.*154C>T (n.*154C>T) c.87C>T (p.Asp29=) c.420C>T (p.Asp140=) | ClinVar |
| 7 | g.117530957del | CA2573141539 | CFTR | c.332del (p.Pro111ArgfsTer13) c.*229del (n.*229del) c.*156del (n.*156del) c.89del (p.Pro30ArgfsTer13) c.89del (p.Pro30ArgfsTer?) c.422del (p.Pro141ArgfsTer13) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530956C>A | CA368974393 | CFTR | c.331C>A (p.Pro111Thr) c.*228C>A (n.*228C>A) c.*155C>A (n.*155C>A) c.88C>A (p.Pro30Thr) c.421C>A (p.Pro141Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117530956C= | CA1737359309 | CFTR | c.331C= (p.Pro111=) c.*228C= (n.*228C=) c.*155C= (n.*155C=) c.88C= (p.Pro30=) c.421C= (p.Pro141=) | |
| 7 | g.117530956C>G | CA327145 | CFTR | c.331C>G (p.Pro111Ala) c.*228C>G (n.*228C>G) c.*155C>G (n.*155C>G) c.88C>G (p.Pro30Ala) c.421C>G (p.Pro141Ala) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530956C>T | CA368974394 | CFTR | c.331C>T (p.Pro111Ser) c.*228C>T (n.*228C>T) c.*155C>T (n.*155C>T) c.88C>T (p.Pro30Ser) c.421C>T (p.Pro141Ser) | gnomAD v4 |
| 7 | g.117530957C>A | CA368974397 | CFTR | c.332C>A (p.Pro111Gln) c.*229C>A (n.*229C>A) c.*156C>A (n.*156C>A) c.89C>A (p.Pro30Gln) c.422C>A (p.Pro141Gln) | |
| 7 | g.117530957C= | CA1737359313 | CFTR | c.332C= (p.Pro111=) c.*229C= (n.*229C=) c.*156C= (n.*156C=) c.89C= (p.Pro30=) c.422C= (p.Pro141=) | |
| 7 | g.117530957C>G | CA10606587 | CFTR | c.332C>G (p.Pro111Arg) c.*229C>G (n.*229C>G) c.*156C>G (n.*156C>G) c.89C>G (p.Pro30Arg) c.422C>G (p.Pro141Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530957C>T | CA327149 | CFTR | c.332C>T (p.Pro111Leu) c.*229C>T (n.*229C>T) c.*156C>T (n.*156C>T) c.89C>T (p.Pro30Leu) c.422C>T (p.Pro141Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530958G>A | CA4450706 | CFTR | c.333G>A (p.Pro111=) c.*230G>A (n.*230G>A) c.*157G>A (n.*157G>A) c.90G>A (p.Pro30=) c.423G>A (p.Pro141=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530958G>C | CA457448604 | CFTR | c.333G>C (p.Pro111=) c.*230G>C (n.*230G>C) c.*157G>C (n.*157G>C) c.90G>C (p.Pro30=) c.423G>C (p.Pro141=) | |
| 7 | g.117530958G= | CA1737359316 | CFTR | c.333G= (p.Pro111=) c.*230G= (n.*230G=) c.*157G= (n.*157G=) c.90G= (p.Pro30=) c.423G= (p.Pro141=) | |
| 7 | g.117530958G>T | CA457448605 | CFTR | c.333G>T (p.Pro111=) c.*230G>T (n.*230G>T) c.*157G>T (n.*157G>T) c.90G>T (p.Pro30=) c.423G>T (p.Pro141=) | |
| 7 | g.117530959G>A | CA4450707 | CFTR | c.334G>A (p.Asp112Asn) c.*231G>A (n.*231G>A) c.*158G>A (n.*158G>A) c.91G>A (p.Asp31Asn) c.424G>A (p.Asp142Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117530959G>C | CA368974401 | CFTR | c.334G>C (p.Asp112His) c.*231G>C (n.*231G>C) c.*158G>C (n.*158G>C) c.91G>C (p.Asp31His) c.424G>C (p.Asp142His) | |
| 7 | g.117530959G= | CA1737359320 | CFTR | c.334G= (p.Asp112=) c.*231G= (n.*231G=) c.*158G= (n.*158G=) c.91G= (p.Asp31=) c.424G= (p.Asp142=) | |
| 7 | g.117530959G>T | CA368974402 | CFTR | c.334G>T (p.Asp112Tyr) c.*231G>T (n.*231G>T) c.*158G>T (n.*158G>T) c.91G>T (p.Asp31Tyr) c.424G>T (p.Asp142Tyr) | |
| 7 | g.117530960A= | CA1737359325 | CFTR | c.335A= (p.Asp112=) c.*232A= (n.*232A=) c.*159A= (n.*159A=) c.92A= (p.Asp31=) c.425A= (p.Asp142=) | |
| 7 | g.117530960A>C | CA368974404 | CFTR | c.335A>C (p.Asp112Ala) c.*232A>C (n.*232A>C) c.*159A>C (n.*159A>C) c.92A>C (p.Asp31Ala) c.425A>C (p.Asp142Ala) | COSMIC |
| 7 | g.117530960A>G | CA4450708 | CFTR | c.335A>G (p.Asp112Gly) c.*232A>G (n.*232A>G) c.*159A>G (n.*159A>G) c.92A>G (p.Asp31Gly) c.425A>G (p.Asp142Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530960A>T | CA368974406 | CFTR | c.335A>T (p.Asp112Val) c.*232A>T (n.*232A>T) c.*159A>T (n.*159A>T) c.92A>T (p.Asp31Val) c.425A>T (p.Asp142Val) | |
| 7 | g.117530961T>A | CA368974408 | CFTR | c.336T>A (p.Asp112Glu) c.*233T>A (n.*233T>A) c.*160T>A (n.*160T>A) c.93T>A (p.Asp31Glu) c.426T>A (p.Asp142Glu) | |
| 7 | g.117530961T>C | CA164943672 | CFTR | c.336T>C (p.Asp112=) c.*233T>C (n.*233T>C) c.*160T>C (n.*160T>C) c.93T>C (p.Asp31=) c.426T>C (p.Asp142=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117530961T>G | CA368974407 | CFTR | c.336T>G (p.Asp112Glu) c.*233T>G (n.*233T>G) c.*160T>G (n.*160T>G) c.93T>G (p.Asp31Glu) c.426T>G (p.Asp142Glu) | gnomAD v3 gnomAD v4 |
| 7 | g.117530961T= | CA1737359330 | CFTR | c.336T= (p.Asp112=) c.*233T= (n.*233T=) c.*160T= (n.*160T=) c.93T= (p.Asp31=) c.426T= (p.Asp142=) | |
| 7 | g.117530962A= | CA1737359332 | CFTR | c.337A= (p.Asn113=) c.*234A= (n.*234A=) c.*161A= (n.*161A=) c.94A= (p.Asn32=) c.427A= (p.Asn143=) | |
| 7 | g.117530962A>C | CA368974410 | CFTR | c.337A>C (p.Asn113His) c.*234A>C (n.*234A>C) c.*161A>C (n.*161A>C) c.94A>C (p.Asn32His) c.427A>C (p.Asn143His) | |
| 7 | g.117530962A>G | CA368974412 | CFTR | c.337A>G (p.Asn113Asp) c.*234A>G (n.*234A>G) c.*161A>G (n.*161A>G) c.94A>G (p.Asn32Asp) c.427A>G (p.Asn143Asp) | dbSNP |
| 7 | g.117530962A>T | CA368974413 | CFTR | c.337A>T (p.Asn113Tyr) c.*234A>T (n.*234A>T) c.*161A>T (n.*161A>T) c.94A>T (p.Asn32Tyr) c.427A>T (p.Asn143Tyr) | |
| 7 | g.117530963A= | CA1737359334 | CFTR | c.338A= (p.Asn113=) c.*235A= (n.*235A=) c.*162A= (n.*162A=) c.95A= (p.Asn32=) c.428A= (p.Asn143=) | |
| 7 | g.117530963A>C | CA368974415 | CFTR | c.338A>C (p.Asn113Thr) c.*235A>C (n.*235A>C) c.*162A>C (n.*162A>C) c.95A>C (p.Asn32Thr) c.428A>C (p.Asn143Thr) | |
| 7 | g.117530963A>G | CA368974416 | CFTR | c.338A>G (p.Asn113Ser) c.*235A>G (n.*235A>G) c.*162A>G (n.*162A>G) c.95A>G (p.Asn32Ser) c.428A>G (p.Asn143Ser) | dbSNP |
| 7 | g.117530963A>T | CA327166 | CFTR | c.338A>T (p.Asn113Ile) c.*235A>T (n.*235A>T) c.*162A>T (n.*162A>T) c.95A>T (p.Asn32Ile) c.428A>T (p.Asn143Ile) | dbSNP |
| 7 | g.117530964C>A | CA368974421 | CFTR | c.339C>A (p.Asn113Lys) c.*236C>A (n.*236C>A) c.*163C>A (n.*163C>A) c.96C>A (p.Asn32Lys) c.429C>A (p.Asn143Lys) | |
| 7 | g.117530964C>G | CA368974419 | CFTR | c.339C>G (p.Asn113Lys) c.*236C>G (n.*236C>G) c.*163C>G (n.*163C>G) c.96C>G (p.Asn32Lys) c.429C>G (p.Asn143Lys) | |
| 7 | g.117530964C>T | CA457448609 | CFTR | c.339C>T (p.Asn113=) c.*236C>T (n.*236C>T) c.*163C>T (n.*163C>T) c.96C>T (p.Asn32=) c.429C>T (p.Asn143=) | |
| 7 | g.117530964_117530967delinsCAAG | CA1737359337 | CFTR | c.339_342delinsCAAG (p.Asn113=) c.*236_*239delinsCAAG (n.*236_*239delinsCAAG) c.*163_*166delinsCAAG (n.*163_*166delinsCAAG) c.96_99delinsCAAG (p.Asn32=) c.429_432delinsCAAG (p.Asn143=) | |
| 7 | g.117530965A= | CA1737359343 | CFTR | c.340A= (p.Lys114=) c.*237A= (n.*237A=) c.*164A= (n.*164A=) c.97A= (p.Lys33=) c.430A= (p.Lys144=) | |
| 7 | g.117530965A>C | CA368974422 | CFTR | c.340A>C (p.Lys114Gln) c.*237A>C (n.*237A>C) c.*164A>C (n.*164A>C) c.97A>C (p.Lys33Gln) c.430A>C (p.Lys144Gln) | |
| 7 | g.117530965A>G | CA368974423 | CFTR | c.340A>G (p.Lys114Glu) c.*237A>G (n.*237A>G) c.*164A>G (n.*164A>G) c.97A>G (p.Lys33Glu) c.430A>G (p.Lys144Glu) | dbSNP gnomAD v4 |
| 7 | g.117530965A>T | CA327170 | CFTR | c.340A>T (p.Lys114Ter) c.*237A>T (n.*237A>T) c.*164A>T (n.*164A>T) c.97A>T (p.Lys33Ter) c.430A>T (p.Lys144Ter) | dbSNP |
| 7 | g.117530965_117530967del | CA645509175 | CFTR | c.340_342del (p.Lys114del) c.*237_*239del (n.*237_*239del) c.*164_*166del (n.*164_*166del) c.97_99del (p.Lys33del) c.430_432del (p.Lys144del) | ClinVar dbSNP |
| 7 | g.117530965_117530968delinsAAGG | CA1737359344 | CFTR | c.340_343delinsAAGG (p.Lys114=) c.*237_*240delinsAAGG (n.*237_*240delinsAAGG) c.*164_*167delinsAAGG (n.*164_*167delinsAAGG) c.97_100delinsAAGG (p.Lys33=) c.430_433delinsAAGG (p.Lys144=) | |
| 7 | g.117530966A= | CA1737359347 | CFTR | c.341A= (p.Lys114=) c.*238A= (n.*238A=) c.*165A= (n.*165A=) c.98A= (p.Lys33=) c.431A= (p.Lys144=) | |
| 7 | g.117530966A>C | CA368974424 | CFTR | c.341A>C (p.Lys114Thr) c.*238A>C (n.*238A>C) c.*165A>C (n.*165A>C) c.98A>C (p.Lys33Thr) c.431A>C (p.Lys144Thr) | |
| 7 | g.117530966A>G | CA368974426 | CFTR | c.341A>G (p.Lys114Arg) c.*238A>G (n.*238A>G) c.*165A>G (n.*165A>G) c.98A>G (p.Lys33Arg) c.431A>G (p.Lys144Arg) | dbSNP |
| 7 | g.117530966A>T | CA368974428 | CFTR | c.341A>T (p.Lys114Met) c.*238A>T (n.*238A>T) c.*165A>T (n.*165A>T) c.98A>T (p.Lys33Met) c.431A>T (p.Lys144Met) | |
| 7 | g.117530970_117530972del | CA327187 | CFTR | c.345_347del (p.Glu116del) c.*242_*244del (n.*242_*244del) c.*169_*171del (n.*169_*171del) c.102_104del (p.Glu35del) c.435_437del (p.Glu146del) | ClinVar dbSNP |
| 7 | g.117530966_117530978del | CA2695208294 | CFTR | c.341_353del (p.Lys114IlefsTer6) c.*238_*250del (n.*238_*250del) c.*165_*177del (n.*165_*177del) c.98_110del (p.Lys33IlefsTer6) c.98_110del (p.Lys33=) c.431_443del (p.Lys144IlefsTer6) | |
| 7 | g.117530967G>A | CA457448610 | CFTR | c.342G>A (p.Lys114=) c.*239G>A (n.*239G>A) c.*166G>A (n.*166G>A) c.99G>A (p.Lys33=) c.432G>A (p.Lys144=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117530967G>C | CA368974430 | CFTR | c.342G>C (p.Lys114Asn) c.*239G>C (n.*239G>C) c.*166G>C (n.*166G>C) c.99G>C (p.Lys33Asn) c.432G>C (p.Lys144Asn) | ClinVar gnomAD v4 |
| 7 | g.117530967G= | CA1737359351 | CFTR | c.342G= (p.Lys114=) c.*239G= (n.*239G=) c.*166G= (n.*166G=) c.99G= (p.Lys33=) c.432G= (p.Lys144=) | |
| 7 | g.117530967G>T | CA368974431 | CFTR | c.342G>T (p.Lys114Asn) c.*239G>T (n.*239G>T) c.*166G>T (n.*166G>T) c.99G>T (p.Lys33Asn) c.432G>T (p.Lys144Asn) | |
| 7 | g.117530968G>A | CA368974434 | CFTR | c.343G>A (p.Glu115Lys) c.*240G>A (n.*240G>A) c.*167G>A (n.*167G>A) c.100G>A (p.Glu34Lys) c.433G>A (p.Glu145Lys) | |
| 7 | g.117530968G>C | CA368974435 | CFTR | c.343G>C (p.Glu115Gln) c.*240G>C (n.*240G>C) c.*167G>C (n.*167G>C) c.100G>C (p.Glu34Gln) c.433G>C (p.Glu145Gln) | |
| 7 | g.117530968G>T | CA368974437 | CFTR | c.343G>T (p.Glu115Ter) c.*240G>T (n.*240G>T) c.*167G>T (n.*167G>T) c.100G>T (p.Glu34Ter) c.433G>T (p.Glu145Ter) | |
| 7 | g.117530969A= | CA1737359354 | CFTR | c.344A= (p.Glu115=) c.*241A= (n.*241A=) c.*168A= (n.*168A=) c.101A= (p.Glu34=) c.434A= (p.Glu145=) | |
| 7 | g.117530969A>C | CA368974438 | CFTR | c.344A>C (p.Glu115Ala) c.*241A>C (n.*241A>C) c.*168A>C (n.*168A>C) c.101A>C (p.Glu34Ala) c.434A>C (p.Glu145Ala) | |
| 7 | g.117530969A>G | CA368974439 | CFTR | c.344A>G (p.Glu115Gly) c.*241A>G (n.*241A>G) c.*168A>G (n.*168A>G) c.101A>G (p.Glu34Gly) c.434A>G (p.Glu145Gly) | |
| 7 | g.117530969A>T | CA164943684 | CFTR | c.344A>T (p.Glu115Val) c.*241A>T (n.*241A>T) c.*168A>T (n.*168A>T) c.101A>T (p.Glu34Val) c.434A>T (p.Glu145Val) | dbSNP gnomAD v4 |
| 7 | g.117530970G>A | CA457448612 | CFTR | c.345G>A (p.Glu115=) c.*242G>A (n.*242G>A) c.*169G>A (n.*169G>A) c.102G>A (p.Glu34=) c.435G>A (p.Glu145=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530970G>C | CA368974441 | CFTR | c.345G>C (p.Glu115Asp) c.*242G>C (n.*242G>C) c.*169G>C (n.*169G>C) c.102G>C (p.Glu34Asp) c.435G>C (p.Glu145Asp) | |
| 7 | g.117530970G>T | CA368974443 | CFTR | c.345G>T (p.Glu115Asp) c.*242G>T (n.*242G>T) c.*169G>T (n.*169G>T) c.102G>T (p.Glu34Asp) c.435G>T (p.Glu145Asp) | |
| 7 | g.117530971G>A | CA327204 | CFTR | c.346G>A (p.Glu116Lys) c.*243G>A (n.*243G>A) c.*170G>A (n.*170G>A) c.103G>A (p.Glu35Lys) c.436G>A (p.Glu146Lys) | ClinVar dbSNP COSMIC |
| 7 | g.117530971G>C | CA327206 | CFTR | c.346G>C (p.Glu116Gln) c.*243G>C (n.*243G>C) c.*170G>C (n.*170G>C) c.103G>C (p.Glu35Gln) c.436G>C (p.Glu146Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530971G= | CA1737359358 | CFTR | c.346G= (p.Glu116=) c.*243G= (n.*243G=) c.*170G= (n.*170G=) c.103G= (p.Glu35=) c.436G= (p.Glu146=) | |
| 7 | g.117530971G>T | CA368974445 | CFTR | c.346G>T (p.Glu116Ter) c.*243G>T (n.*243G>T) c.*170G>T (n.*170G>T) c.103G>T (p.Glu35Ter) c.436G>T (p.Glu146Ter) | |
| 7 | g.117530972A= | CA1737359361 | CFTR | c.347A= (p.Glu116=) c.*244A= (n.*244A=) c.*171A= (n.*171A=) c.104A= (p.Glu35=) c.437A= (p.Glu146=) | |
| 7 | g.117530972A>C | CA4450710 | CFTR | c.347A>C (p.Glu116Ala) c.*244A>C (n.*244A>C) c.*171A>C (n.*171A>C) c.104A>C (p.Glu35Ala) c.437A>C (p.Glu146Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530972A>G | CA4450709 | CFTR | c.347A>G (p.Glu116Gly) c.*244A>G (n.*244A>G) c.*171A>G (n.*171A>G) c.104A>G (p.Glu35Gly) c.437A>G (p.Glu146Gly) | dbSNP ExAC gnomAD v2 |
| 7 | g.117530972A>T | CA368974447 | CFTR | c.347A>T (p.Glu116Val) c.*244A>T (n.*244A>T) c.*171A>T (n.*171A>T) c.104A>T (p.Glu35Val) c.437A>T (p.Glu146Val) | |
| 7 | g.117530973A>C | CA368974450 | CFTR | c.348A>C (p.Glu116Asp) c.*245A>C (n.*245A>C) c.*172A>C (n.*172A>C) c.105A>C (p.Glu35Asp) c.438A>C (p.Glu146Asp) | |
| 7 | g.117530973A>G | CA457448614 | CFTR | c.348A>G (p.Glu116=) c.*245A>G (n.*245A>G) c.*172A>G (n.*172A>G) c.105A>G (p.Glu35=) c.438A>G (p.Glu146=) | gnomAD v4 |
| 7 | g.117530973A>T | CA368974452 | CFTR | c.348A>T (p.Glu116Asp) c.*245A>T (n.*245A>T) c.*172A>T (n.*172A>T) c.105A>T (p.Glu35Asp) c.438A>T (p.Glu146Asp) | |
| 7 | g.117530974C>A | CA4450711 | CFTR | c.349C>A (p.Arg117Ser) c.*246C>A (n.*246C>A) c.*173C>A (n.*173C>A) c.106C>A (p.Arg36Ser) c.439C>A (p.Arg147Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530974C= | CA1737359370 | CFTR | c.349C= (p.Arg117=) c.*246C= (n.*246C=) c.*173C= (n.*173C=) c.106C= (p.Arg36=) c.439C= (p.Arg147=) | |
| 7 | g.117530974C>G | CA327217 | CFTR | c.349C>G (p.Arg117Gly) c.*246C>G (n.*246C>G) c.*173C>G (n.*173C>G) c.106C>G (p.Arg36Gly) c.439C>G (p.Arg147Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530974C>T | CA328115 | CFTR | c.349C>T (p.Arg117Cys) c.*246C>T (n.*246C>T) c.*173C>T (n.*173C>T) c.106C>T (p.Arg36Cys) c.439C>T (p.Arg147Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530975G>A | CA221026 | CFTR | c.350G>A (p.Arg117His) c.*247G>A (n.*247G>A) c.*174G>A (n.*174G>A) c.107G>A (p.Arg36His) c.440G>A (p.Arg147His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.[117530975G>A;117548635del] | CA353800 | CFTR | c.[350G>A;1210-6del] (p.Arg117His) c.[*247G>A;*1106+6527del] (n.[*247G>A;*1106+6527del]) c.[350G>A;1209+6527del] (p.Arg117His) c.[*174G>A;*1034-6del] (n.[*174G>A;*1034-6del]) c.[107G>A;966+6527del] (p.Arg36His) c.[107G>A;967-6del] (p.Arg36His) c.[350G>A;1120-6del] (p.Arg117His) c.[440G>A;1300-6del] (p.Arg147His) | |
| 7 | g.[117530975G>A;117548634_117548635del] | CA891862588 | CFTR | c.[350G>A;1210-7_1210-6del] (p.Arg117His) c.[*247G>A;*1106+6526_*1106+6527del] (n.[*247G>A;*1106+6526_*1106+6527del]) c.[350G>A;1209+6526_1209+6527del] (p.Arg117His) c.[*174G>A;*1034-7_*1034-6del] (n.[*174G>A;*1034-7_*1034-6del]) c.[107G>A;966+6526_966+6527del] (p.Arg36His) c.[107G>A;967-7_967-6del] (p.Arg36His) c.[350G>A;1120-7_1120-6del] (p.Arg117His) c.[440G>A;1300-7_1300-6del] (p.Arg147His) | ClinVar |
| 7 | g.117530975G>C | CA327221 | CFTR | c.350G>C (p.Arg117Pro) c.*247G>C (n.*247G>C) c.*174G>C (n.*174G>C) c.107G>C (p.Arg36Pro) c.440G>C (p.Arg147Pro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530975G= | CA1737359376 | CFTR | c.350G= (p.Arg117=) c.*247G= (n.*247G=) c.*174G= (n.*174G=) c.107G= (p.Arg36=) c.440G= (p.Arg147=) | |
| 7 | g.117530975G>T | CA327222 | CFTR | c.350G>T (p.Arg117Leu) c.*247G>T (n.*247G>T) c.*174G>T (n.*174G>T) c.107G>T (p.Arg36Leu) c.440G>T (p.Arg147Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530975delinsTA | CA2573105981 | CFTR | c.350delinsTA (p.Arg117LeufsTer?) c.*247delinsTA (n.*247delinsTA) c.*174delinsTA (n.*174delinsTA) c.107delinsTA (p.Arg36LeufsTer?) c.440delinsTA (p.Arg147LeufsTer?) | |
| 7 | g.117530976C>A | CA457448616 | CFTR | c.351C>A (p.Arg117=) c.*248C>A (n.*248C>A) c.*175C>A (n.*175C>A) c.108C>A (p.Arg36=) c.441C>A (p.Arg147=) | |
| 7 | g.117530976C= | CA2740130076 | CFTR | c.351C= (p.Arg117=) c.*248C= (n.*248C=) c.*175C= (n.*175C=) c.108C= (p.Arg36=) c.441C= (p.Arg147=) | |
| 7 | g.117530976C>G | CA457448618 | CFTR | c.351C>G (p.Arg117=) c.*248C>G (n.*248C>G) c.*175C>G (n.*175C>G) c.108C>G (p.Arg36=) c.441C>G (p.Arg147=) | |
| 7 | g.117530976C>T | CA457448619 | CFTR | c.351C>T (p.Arg117=) c.*248C>T (n.*248C>T) c.*175C>T (n.*175C>T) c.108C>T (p.Arg36=) c.441C>T (p.Arg147=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530977T>A | CA368974456 | CFTR | c.352T>A (p.Ser118Thr) c.*249T>A (n.*249T>A) c.*176T>A (n.*176T>A) c.109T>A (p.Ser37Thr) c.109T>A c.442T>A (p.Ser148Thr) | |
| 7 | g.117530977T>C | CA368974457 | CFTR | c.352T>C (p.Ser118Pro) c.*249T>C (n.*249T>C) c.*176T>C (n.*176T>C) c.109T>C (p.Ser37Pro) c.109T>C c.442T>C (p.Ser148Pro) | |
| 7 | g.117530977T>G | CA368974458 | CFTR | c.352T>G (p.Ser118Ala) c.*249T>G (n.*249T>G) c.*176T>G (n.*176T>G) c.109T>G (p.Ser37Ala) c.109T>G c.442T>G (p.Ser148Ala) | |
| 7 | g.117530977T= | CA1737359382 | CFTR | c.352T= (p.Ser118=) c.*249T= (n.*249T=) c.*176T= (n.*176T=) c.109T= (p.Ser37=) c.109T= c.442T= (p.Ser148=) | |
| 7 | g.117530978C>A | CA368974459 | CFTR | c.353C>A (p.Ser118Tyr) c.*250C>A (n.*250C>A) c.*177C>A (n.*177C>A) c.110C>A (p.Ser37Tyr) c.110C>A c.443C>A (p.Ser148Tyr) | |
| 7 | g.117530978C= | CA1737359386 | CFTR | c.353C= (p.Ser118=) c.*250C= (n.*250C=) c.*177C= (n.*177C=) c.110C= (p.Ser37=) c.110C= c.443C= (p.Ser148=) | |
| 7 | g.117530978C>G | CA368974461 | CFTR | c.353C>G (p.Ser118Cys) c.*250C>G (n.*250C>G) c.*177C>G (n.*177C>G) c.110C>G (p.Ser37Cys) c.110C>G c.443C>G (p.Ser148Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530978C>T | CA368974463 | CFTR | c.353C>T (p.Ser118Phe) c.*250C>T (n.*250C>T) c.*177C>T (n.*177C>T) c.110C>T (p.Ser37Phe) c.110C>T c.443C>T (p.Ser148Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117530978dup | CA164943706 | CFTR | c.353dup (p.Ile119TyrfsTer?) c.*250dup (n.*250dup) c.*177dup (n.*177dup) c.110dup (p.Ile38TyrfsTer?) c.443dup (p.Ile149TyrfsTer?) | dbSNP |
| 7 | g.117530979T>A | CA457448622 | CFTR | c.354T>A (p.Ser118=) c.*251T>A (n.*251T>A) c.*178T>A (n.*178T>A) c.111T>A (p.Ser37=) c.444T>A (p.Ser148=) | ClinVar |
| 7 | g.117530979T>C | CA457448624 | CFTR | c.354T>C (p.Ser118=) c.*251T>C (n.*251T>C) c.*178T>C (n.*178T>C) c.111T>C (p.Ser37=) c.444T>C (p.Ser148=) | ClinVar dbSNP |
| 7 | g.117530979T>G | CA457448621 | CFTR | c.354T>G (p.Ser118=) c.*251T>G (n.*251T>G) c.*178T>G (n.*178T>G) c.111T>G (p.Ser37=) c.444T>G (p.Ser148=) | |
| 7 | g.117530979dup | CA2582341941 | CFTR | c.354dup (p.Ile119TyrfsTer?) c.*251dup (n.*251dup) c.*178dup (n.*178dup) c.111dup (p.Ile38TyrfsTer?) c.444dup (p.Ile149TyrfsTer?) | ClinVar |
| 7 | g.117530980A= | CA1737359390 | CFTR | c.355A= (p.Ile119=) c.*252A= (n.*252A=) c.*179A= (n.*179A=) c.112A= (p.Ile38=) c.445A= (p.Ile149=) | |
| 7 | g.117530980A>C | CA368974467 | CFTR | c.355A>C (p.Ile119Leu) c.*252A>C (n.*252A>C) c.*179A>C (n.*179A>C) c.112A>C (p.Ile38Leu) c.445A>C (p.Ile149Leu) | gnomAD v4 |
| 7 | g.117530980A>G | CA260237 | CFTR | c.355A>G (p.Ile119Val) c.*252A>G (n.*252A>G) c.*179A>G (n.*179A>G) c.112A>G (p.Ile38Val) c.445A>G (p.Ile149Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530980A>T | CA368974464 | CFTR | c.355A>T (p.Ile119Phe) c.*252A>T (n.*252A>T) c.*179A>T (n.*179A>T) c.112A>T (p.Ile38Phe) c.445A>T (p.Ile149Phe) | |
| 7 | g.117530981T>A | CA368974468 | CFTR | c.356T>A (p.Ile119Asn) c.*253T>A (n.*253T>A) c.*180T>A (n.*180T>A) c.113T>A (p.Ile38Asn) c.446T>A (p.Ile149Asn) | ClinVar |
| 7 | g.117530981T>C | CA368974470 | CFTR | c.356T>C (p.Ile119Thr) c.*253T>C (n.*253T>C) c.*180T>C (n.*180T>C) c.113T>C (p.Ile38Thr) c.446T>C (p.Ile149Thr) | |
| 7 | g.117530981T>G | CA368974471 | CFTR | c.356T>G (p.Ile119Ser) c.*253T>G (n.*253T>G) c.*180T>G (n.*180T>G) c.113T>G (p.Ile38Ser) c.446T>G (p.Ile149Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117530981_117530982delinsTC | CA1737359394 | CFTR | c.356_357delinsTC (p.Ile119=) c.*253_*254delinsTC (n.*253_*254delinsTC) c.*180_*181delinsTC (n.*180_*181delinsTC) c.113_114delinsTC (p.Ile38=) c.446_447delinsTC (p.Ile149=) | |
| 7 | g.117530982del | CA327232 | CFTR | c.357del (p.Ile119MetfsTer5) c.*254del (n.*254del) c.*181del (n.*181del) c.114del (p.Ile38MetfsTer5) c.447del (p.Ile149MetfsTer5) | dbSNP |
| 7 | g.117530982C>A | CA457448627 | CFTR | c.357C>A (p.Ile119=) c.*254C>A (n.*254C>A) c.*181C>A (n.*181C>A) c.114C>A (p.Ile38=) c.447C>A (p.Ile149=) | ClinVar dbSNP |
| 7 | g.117530982C= | CA1737359399 | CFTR | c.357C= (p.Ile119=) c.*254C= (n.*254C=) c.*181C= (n.*181C=) c.114C= (p.Ile38=) c.447C= (p.Ile149=) | |
| 7 | g.117530982C>G | CA368974473 | CFTR | c.357C>G (p.Ile119Met) c.*254C>G (n.*254C>G) c.*181C>G (n.*181C>G) c.114C>G (p.Ile38Met) c.447C>G (p.Ile149Met) | gnomAD v4 COSMIC |
| 7 | g.117530982C>T | CA457448628 | CFTR | c.357C>T (p.Ile119=) c.*254C>T (n.*254C>T) c.*181C>T (n.*181C>T) c.114C>T (p.Ile38=) c.447C>T (p.Ile149=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117530983G>A | CA327235 | CFTR | c.358G>A (p.Ala120Thr) c.*255G>A (n.*255G>A) c.*182G>A (n.*182G>A) c.115G>A (p.Ala39Thr) c.448G>A (p.Ala150Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117530983G>C | CA368974475 | CFTR | c.358G>C (p.Ala120Pro) c.*255G>C (n.*255G>C) c.*182G>C (n.*182G>C) c.115G>C (p.Ala39Pro) c.448G>C (p.Ala150Pro) | dbSNP |
| 7 | g.117530983G= | CA1737359403 | CFTR | c.358G= (p.Ala120=) c.*255G= (n.*255G=) c.*182G= (n.*182G=) c.115G= (p.Ala39=) c.448G= (p.Ala150=) | |
| 7 | g.117530983G>T | CA4450712 | CFTR | c.358G>T (p.Ala120Ser) c.*255G>T (n.*255G>T) c.*182G>T (n.*182G>T) c.115G>T (p.Ala39Ser) c.448G>T (p.Ala150Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117530984C>A | CA368974478 | CFTR | c.359C>A (p.Ala120Glu) c.*256C>A (n.*256C>A) c.*183C>A (n.*183C>A) c.116C>A (p.Ala39Glu) c.449C>A (p.Ala150Glu) | |
| 7 | g.117530984C= | CA1737359412 | CFTR | c.359C= (p.Ala120=) c.*256C= (n.*256C=) c.*183C= (n.*183C=) c.116C= (p.Ala39=) c.449C= (p.Ala150=) | |
| 7 | g.117530984C>G | CA368974479 | CFTR | c.359C>G (p.Ala120Gly) c.*256C>G (n.*256C>G) c.*183C>G (n.*183C>G) c.116C>G (p.Ala39Gly) c.449C>G (p.Ala150Gly) | |
| 7 | g.117530984C>T | CA368974481 | CFTR | c.359C>T (p.Ala120Val) c.*256C>T (n.*256C>T) c.*183C>T (n.*183C>T) c.116C>T (p.Ala39Val) c.449C>T (p.Ala150Val) | ClinVar dbSNP gnomAD v4 |