| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.117540285G>A | CA325583 | CFTR | c.1055G>A (p.Arg352Gln) c.*952G>A (n.*952G>A) c.*879G>A (n.*879G>A) c.812G>A (p.Arg271Gln) c.965G>A (p.Arg322Gln) c.1145G>A (p.Arg382Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117540285G>C | CA368978911 | CFTR | c.1055G>C (p.Arg352Pro) c.*952G>C (n.*952G>C) c.*879G>C (n.*879G>C) c.812G>C (p.Arg271Pro) c.965G>C (p.Arg322Pro) c.1145G>C (p.Arg382Pro) | |
| 7 | g.117540285G= | CA1737332436 | CFTR | c.1055G= (p.Arg352=) c.*952G= (n.*952G=) c.*879G= (n.*879G=) c.812G= (p.Arg271=) c.965G= (p.Arg322=) c.1145G= (p.Arg382=) | |
| 7 | g.117540285G>T | CA368978913 | CFTR | c.1055G>T (p.Arg352Leu) c.*952G>T (n.*952G>T) c.*879G>T (n.*879G>T) c.812G>T (p.Arg271Leu) c.965G>T (p.Arg322Leu) c.1145G>T (p.Arg382Leu) | |
| 7 | g.117540286G>A | CA457448779 | CFTR | c.1056G>A (p.Arg352=) c.*953G>A (n.*953G>A) c.*880G>A (n.*880G>A) c.813G>A (p.Arg271=) c.966G>A (p.Arg322=) c.1146G>A (p.Arg382=) | |
| 7 | g.117540286G>C | CA457448780 | CFTR | c.1056G>C (p.Arg352=) c.*953G>C (n.*953G>C) c.*880G>C (n.*880G>C) c.813G>C (p.Arg271=) c.966G>C (p.Arg322=) c.1146G>C (p.Arg382=) | |
| 7 | g.117540286G>T | CA457448781 | CFTR | c.1056G>T (p.Arg352=) c.*953G>T (n.*953G>T) c.*880G>T (n.*880G>T) c.813G>T (p.Arg271=) c.966G>T (p.Arg322=) c.1146G>T (p.Arg382=) | |
| 7 | g.117540287C>A | CA368978915 | CFTR | c.1057C>A (p.Gln353Lys) c.*954C>A (n.*954C>A) c.*881C>A (n.*881C>A) c.814C>A (p.Gln272Lys) c.967C>A (p.Gln323Lys) c.1147C>A (p.Gln383Lys) | |
| 7 | g.117540287C= | CA1737332452 | CFTR | c.1057C= (p.Gln353=) c.*954C= (n.*954C=) c.*881C= (n.*881C=) c.814C= (p.Gln272=) c.967C= (p.Gln323=) c.1147C= (p.Gln383=) | |
| 7 | g.117540287C>G | CA368978917 | CFTR | c.1057C>G (p.Gln353Glu) c.*954C>G (n.*954C>G) c.*881C>G (n.*881C>G) c.814C>G (p.Gln272Glu) c.967C>G (p.Gln323Glu) c.1147C>G (p.Gln383Glu) | |
| 7 | g.117540287C>T | CA326379 | CFTR | c.1057C>T (p.Gln353Ter) c.*954C>T (n.*954C>T) c.*881C>T (n.*881C>T) c.814C>T (p.Gln272Ter) c.967C>T (p.Gln323Ter) c.1147C>T (p.Gln383Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540288A>C | CA368978918 | CFTR | c.1058A>C (p.Gln353Pro) c.*955A>C (n.*955A>C) c.*882A>C (n.*882A>C) c.815A>C (p.Gln272Pro) c.968A>C (p.Gln323Pro) c.1148A>C (p.Gln383Pro) | |
| 7 | g.117540288A>G | CA368978919 | CFTR | c.1058A>G (p.Gln353Arg) c.*955A>G (n.*955A>G) c.*882A>G (n.*882A>G) c.815A>G (p.Gln272Arg) c.968A>G (p.Gln323Arg) c.1148A>G (p.Gln383Arg) | ClinVar |
| 7 | g.117540288A>T | CA368978920 | CFTR | c.1058A>T (p.Gln353Leu) c.*955A>T (n.*955A>T) c.*882A>T (n.*882A>T) c.815A>T (p.Gln272Leu) c.968A>T (p.Gln323Leu) c.1148A>T (p.Gln383Leu) | |
| 7 | g.117540289A= | CA1737332467 | CFTR | c.1059A= (p.Gln353=) c.*956A= (n.*956A=) c.*883A= (n.*883A=) c.816A= (p.Gln272=) c.969A= (p.Gln323=) c.1149A= (p.Gln383=) | |
| 7 | g.117540289A>C | CA326381 | CFTR | c.1059A>C (p.Gln353His) c.*956A>C (n.*956A>C) c.*883A>C (n.*883A>C) c.816A>C (p.Gln272His) c.969A>C (p.Gln323His) c.1149A>C (p.Gln383His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117540289A>G | CA4450883 | CFTR | c.1059A>G (p.Gln353=) c.*956A>G (n.*956A>G) c.*883A>G (n.*883A>G) c.816A>G (p.Gln272=) c.969A>G (p.Gln323=) c.1149A>G (p.Gln383=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117540289A>T | CA368978923 | CFTR | c.1059A>T (p.Gln353His) c.*956A>T (n.*956A>T) c.*883A>T (n.*883A>T) c.816A>T (p.Gln272His) c.969A>T (p.Gln323His) c.1149A>T (p.Gln383His) | |
| 7 | g.117540290T>A | CA368978925 | CFTR | c.1060T>A (p.Phe354Ile) c.*957T>A (n.*957T>A) c.*884T>A (n.*884T>A) c.817T>A (p.Phe273Ile) c.970T>A (p.Phe324Ile) c.1150T>A (p.Phe384Ile) | |
| 7 | g.117540290T>C | CA368978927 | CFTR | c.1060T>C (p.Phe354Leu) c.*957T>C (n.*957T>C) c.*884T>C (n.*884T>C) c.817T>C (p.Phe273Leu) c.970T>C (p.Phe324Leu) c.1150T>C (p.Phe384Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540290T>G | CA368978928 | CFTR | c.1060T>G (p.Phe354Val) c.*957T>G (n.*957T>G) c.*884T>G (n.*884T>G) c.817T>G (p.Phe273Val) c.970T>G (p.Phe324Val) c.1150T>G (p.Phe384Val) | |
| 7 | g.117540290T= | CA1737332478 | CFTR | c.1060T= (p.Phe354=) c.*957T= (n.*957T=) c.*884T= (n.*884T=) c.817T= (p.Phe273=) c.970T= (p.Phe324=) c.1150T= (p.Phe384=) | |
| 7 | g.117540291T>A | CA368978929 | CFTR | c.1061T>A (p.Phe354Tyr) c.*958T>A (n.*958T>A) c.*885T>A (n.*885T>A) c.818T>A (p.Phe273Tyr) c.971T>A (p.Phe324Tyr) c.1151T>A (p.Phe384Tyr) | |
| 7 | g.117540291T>C | CA368978930 | CFTR | c.1061T>C (p.Phe354Ser) c.*958T>C (n.*958T>C) c.*885T>C (n.*885T>C) c.818T>C (p.Phe273Ser) c.971T>C (p.Phe324Ser) c.1151T>C (p.Phe384Ser) | |
| 7 | g.117540291T>G | CA368978931 | CFTR | c.1061T>G (p.Phe354Cys) c.*958T>G (n.*958T>G) c.*885T>G (n.*885T>G) c.818T>G (p.Phe273Cys) c.971T>G (p.Phe324Cys) c.1151T>G (p.Phe384Cys) | |
| 7 | g.117540292T>A | CA368978933 | CFTR | c.1062T>A (p.Phe354Leu) c.*959T>A (n.*959T>A) c.*886T>A (n.*886T>A) c.819T>A (p.Phe273Leu) c.972T>A (p.Phe324Leu) c.1152T>A (p.Phe384Leu) | |
| 7 | g.117540292T>C | CA164953962 | CFTR | c.1062T>C (p.Phe354=) c.*959T>C (n.*959T>C) c.*886T>C (n.*886T>C) c.819T>C (p.Phe273=) c.972T>C (p.Phe324=) c.1152T>C (p.Phe384=) | dbSNP |
| 7 | g.117540292T>G | CA368978932 | CFTR | c.1062T>G (p.Phe354Leu) c.*959T>G (n.*959T>G) c.*886T>G (n.*886T>G) c.819T>G (p.Phe273Leu) c.972T>G (p.Phe324Leu) c.1152T>G (p.Phe384Leu) | |
| 7 | g.117540292T= | CA1737332488 | CFTR | c.1062T= (p.Phe354=) c.*959T= (n.*959T=) c.*886T= (n.*886T=) c.819T= (p.Phe273=) c.972T= (p.Phe324=) c.1152T= (p.Phe384=) | |
| 7 | g.117540293C>A | CA368978935 | CFTR | c.1063C>A (p.Pro355Thr) c.*960C>A (n.*960C>A) c.*887C>A (n.*887C>A) c.820C>A (p.Pro274Thr) c.973C>A (p.Pro325Thr) c.1153C>A (p.Pro385Thr) | |
| 7 | g.117540293C= | CA1737332495 | CFTR | c.1063C= (p.Pro355=) c.*960C= (n.*960C=) c.*887C= (n.*887C=) c.820C= (p.Pro274=) c.973C= (p.Pro325=) c.1153C= (p.Pro385=) | |
| 7 | g.117540293C>G | CA368978937 | CFTR | c.1063C>G (p.Pro355Ala) c.*960C>G (n.*960C>G) c.*887C>G (n.*887C>G) c.820C>G (p.Pro274Ala) c.973C>G (p.Pro325Ala) c.1153C>G (p.Pro385Ala) | |
| 7 | g.117540293C>T | CA164953972 | CFTR | c.1063C>T (p.Pro355Ser) c.*960C>T (n.*960C>T) c.*887C>T (n.*887C>T) c.820C>T (p.Pro274Ser) c.973C>T (p.Pro325Ser) c.1153C>T (p.Pro385Ser) | dbSNP COSMIC |
| 7 | g.117540294C>A | CA368978939 | CFTR | c.1064C>A (p.Pro355His) c.*961C>A (n.*961C>A) c.*888C>A (n.*888C>A) c.821C>A (p.Pro274His) c.974C>A (p.Pro325His) c.1154C>A (p.Pro385His) | |
| 7 | g.117540294C= | CA1737332500 | CFTR | c.1064C= (p.Pro355=) c.*961C= (n.*961C=) c.*888C= (n.*888C=) c.821C= (p.Pro274=) c.974C= (p.Pro325=) c.1154C= (p.Pro385=) | |
| 7 | g.117540294C>G | CA368978942 | CFTR | c.1064C>G (p.Pro355Arg) c.*961C>G (n.*961C>G) c.*888C>G (n.*888C>G) c.821C>G (p.Pro274Arg) c.974C>G (p.Pro325Arg) c.1154C>G (p.Pro385Arg) | |
| 7 | g.117540294C>T | CA4450884 | CFTR | c.1064C>T (p.Pro355Leu) c.*961C>T (n.*961C>T) c.*888C>T (n.*888C>T) c.821C>T (p.Pro274Leu) c.974C>T (p.Pro325Leu) c.1154C>T (p.Pro385Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117540295C>A | CA457448782 | CFTR | c.1065C>A (p.Pro355=) c.*962C>A (n.*962C>A) c.*889C>A (n.*889C>A) c.822C>A (p.Pro274=) c.975C>A (p.Pro325=) c.1155C>A (p.Pro385=) | |
| 7 | g.117540295C>G | CA457448783 | CFTR | c.1065C>G (p.Pro355=) c.*962C>G (n.*962C>G) c.*889C>G (n.*889C>G) c.822C>G (p.Pro274=) c.975C>G (p.Pro325=) c.1155C>G (p.Pro385=) | |
| 7 | g.117540295C>T | CA457448784 | CFTR | c.1065C>T (p.Pro355=) c.*962C>T (n.*962C>T) c.*889C>T (n.*889C>T) c.822C>T (p.Pro274=) c.975C>T (p.Pro325=) c.1155C>T (p.Pro385=) | |
| 7 | g.117540295_117540302delinsCTGGGCTG | CA1737332504 | CFTR | c.1065_1072delinsCTGGGCTG (p.Pro355=) c.*962_*969delinsCTGGGCTG (n.*962_*969delinsCTGGGCTG) c.*889_*896delinsCTGGGCTG (n.*889_*896delinsCTGGGCTG) c.822_829delinsCTGGGCTG (p.Pro274=) c.975_982delinsCTGGGCTG (p.Pro325=) c.1155_1162delinsCTGGGCTG (p.Pro385=) | |
| 7 | g.117540296T>A | CA368978944 | CFTR | c.1066T>A (p.Trp356Arg) c.*963T>A (n.*963T>A) c.*890T>A (n.*890T>A) c.823T>A (p.Trp275Arg) c.976T>A (p.Trp326Arg) c.1156T>A (p.Trp386Arg) | dbSNP gnomAD v4 |
| 7 | g.117540296T>C | CA368978946 | CFTR | c.1066T>C (p.Trp356Arg) c.*963T>C (n.*963T>C) c.*890T>C (n.*890T>C) c.823T>C (p.Trp275Arg) c.976T>C (p.Trp326Arg) c.1156T>C (p.Trp386Arg) | gnomAD v4 |
| 7 | g.117540296T>G | CA368978948 | CFTR | c.1066T>G (p.Trp356Gly) c.*963T>G (n.*963T>G) c.*890T>G (n.*890T>G) c.823T>G (p.Trp275Gly) c.976T>G (p.Trp326Gly) c.1156T>G (p.Trp386Gly) | |
| 7 | g.117540296T= | CA1737332520 | CFTR | c.1066T= (p.Trp356=) c.*963T= (n.*963T=) c.*890T= (n.*890T=) c.823T= (p.Trp275=) c.976T= (p.Trp326=) c.1156T= (p.Trp386=) | |
| 7 | g.117540296_117540297delinsTG | CA1737332519 | CFTR | c.1066_1067delinsTG (p.Trp356=) c.*963_*964delinsTG (n.*963_*964delinsTG) c.*890_*891delinsTG (n.*890_*891delinsTG) c.823_824delinsTG (p.Trp275=) c.976_977delinsTG (p.Trp326=) c.1156_1157delinsTG (p.Trp386=) | |
| 7 | g.117540296_117540301del | CA2573141569 | CFTR | c.1066_1071del (p.Trp356_Ala357del) c.*963_*968del (n.*963_*968del) c.*890_*895del (n.*890_*895del) c.823_828del (p.Trp275_Ala276del) c.976_981del (p.Trp326_Ala327del) c.1156_1161del (p.Trp386_Ala387del) | ClinVar dbSNP |
| 7 | g.117540296_117540301delinsA | CA2695208312 | CFTR | c.1066_1071delinsA (p.Trp356SerfsTer6) c.*963_*968delinsA (n.*963_*968delinsA) c.*890_*895delinsA (n.*890_*895delinsA) c.823_828delinsA (p.Trp275SerfsTer6) c.976_981delinsA (p.Trp326SerfsTer6) c.1156_1161delinsA (p.Trp386SerfsTer6) |