| 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.117540270G>A | CA340652 | CFTR | c.1040G>A (p.Arg347His) c.*937G>A (n.*937G>A) c.*864G>A (n.*864G>A) c.797G>A (p.Arg266His) c.950G>A (p.Arg317His) c.1130G>A (p.Arg377His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117540270G>C | CA340630 | CFTR | c.1040G>C (p.Arg347Pro) c.*937G>C (n.*937G>C) c.*864G>C (n.*864G>C) c.797G>C (p.Arg266Pro) c.950G>C (p.Arg317Pro) c.1130G>C (p.Arg377Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540270G= | CA1737332328 | CFTR | c.1040G= (p.Arg347=) c.*937G= (n.*937G=) c.*864G= (n.*864G=) c.797G= (p.Arg266=) c.950G= (p.Arg317=) c.1130G= (p.Arg377=) | |
| 7 | g.117540270G>T | CA325561 | CFTR | c.1040G>T (p.Arg347Leu) c.*937G>T (n.*937G>T) c.*864G>T (n.*864G>T) c.797G>T (p.Arg266Leu) c.950G>T (p.Arg317Leu) c.1130G>T (p.Arg377Leu) | ClinVar dbSNP |
| 7 | g.117540271C>A | CA457448768 | CFTR | c.1041C>A (p.Arg347=) c.*938C>A (n.*938C>A) c.*865C>A (n.*865C>A) c.798C>A (p.Arg266=) c.951C>A (p.Arg317=) c.1131C>A (p.Arg377=) | |
| 7 | g.117540271C>G | CA457448770 | CFTR | c.1041C>G (p.Arg347=) c.*938C>G (n.*938C>G) c.*865C>G (n.*865C>G) c.798C>G (p.Arg266=) c.951C>G (p.Arg317=) c.1131C>G (p.Arg377=) | ClinVar dbSNP |
| 7 | g.117540271C>T | CA457448769 | CFTR | c.1041C>T (p.Arg347=) c.*938C>T (n.*938C>T) c.*865C>T (n.*865C>T) c.798C>T (p.Arg266=) c.951C>T (p.Arg317=) c.1131C>T (p.Arg377=) | gnomAD v4 |
| 7 | g.117540272A= | CA1737332338 | CFTR | c.1042A= (p.Met348=) c.*939A= (n.*939A=) c.*866A= (n.*866A=) c.799A= (p.Met267=) c.952A= (p.Met318=) c.1132A= (p.Met378=) | |
| 7 | g.117540272A>C | CA368978873 | CFTR | c.1042A>C (p.Met348Leu) c.*939A>C (n.*939A>C) c.*866A>C (n.*866A>C) c.799A>C (p.Met267Leu) c.952A>C (p.Met318Leu) c.1132A>C (p.Met378Leu) | |
| 7 | g.117540272A>G | CA368978872 | CFTR | c.1042A>G (p.Met348Val) c.*939A>G (n.*939A>G) c.*866A>G (n.*866A>G) c.799A>G (p.Met267Val) c.952A>G (p.Met318Val) c.1132A>G (p.Met378Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540272A>T | CA368978871 | CFTR | c.1042A>T (p.Met348Leu) c.*939A>T (n.*939A>T) c.*866A>T (n.*866A>T) c.799A>T (p.Met267Leu) c.952A>T (p.Met318Leu) c.1132A>T (p.Met378Leu) | |
| 7 | g.117540273T>A | CA326375 | CFTR | c.1043T>A (p.Met348Lys) c.*940T>A (n.*940T>A) c.*867T>A (n.*867T>A) c.800T>A (p.Met267Lys) c.953T>A (p.Met318Lys) c.1133T>A (p.Met378Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540273T>C | CA368978875 | CFTR | c.1043T>C (p.Met348Thr) c.*940T>C (n.*940T>C) c.*867T>C (n.*867T>C) c.800T>C (p.Met267Thr) c.953T>C (p.Met318Thr) c.1133T>C (p.Met378Thr) | ClinVar gnomAD v4 |
| 7 | g.117540273T>G | CA368978876 | CFTR | c.1043T>G (p.Met348Arg) c.*940T>G (n.*940T>G) c.*867T>G (n.*867T>G) c.800T>G (p.Met267Arg) c.953T>G (p.Met318Arg) c.1133T>G (p.Met378Arg) | |
| 7 | g.117540273T= | CA1737332341 | CFTR | c.1043T= (p.Met348=) c.*940T= (n.*940T=) c.*867T= (n.*867T=) c.800T= (p.Met267=) c.953T= (p.Met318=) c.1133T= (p.Met378=) | |
| 7 | g.117540274G>A | CA368978878 | CFTR | c.1044G>A (p.Met348Ile) c.*941G>A (n.*941G>A) c.*868G>A (n.*868G>A) c.801G>A (p.Met267Ile) c.954G>A (p.Met318Ile) c.1134G>A (p.Met378Ile) | |
| 7 | g.117540274G>C | CA368978879 | CFTR | c.1044G>C (p.Met348Ile) c.*941G>C (n.*941G>C) c.*868G>C (n.*868G>C) c.801G>C (p.Met267Ile) c.954G>C (p.Met318Ile) c.1134G>C (p.Met378Ile) | |
| 7 | g.117540274G>T | CA368978880 | CFTR | c.1044G>T (p.Met348Ile) c.*941G>T (n.*941G>T) c.*868G>T (n.*868G>T) c.801G>T (p.Met267Ile) c.954G>T (p.Met318Ile) c.1134G>T (p.Met378Ile) | |
| 7 | g.117540275G>A | CA368978882 | CFTR | c.1045G>A (p.Ala349Thr) c.*942G>A (n.*942G>A) c.*869G>A (n.*869G>A) c.802G>A (p.Ala268Thr) c.955G>A (p.Ala319Thr) c.1135G>A (p.Ala379Thr) | dbSNP |
| 7 | g.117540275G>C | CA368978884 | CFTR | c.1045G>C (p.Ala349Pro) c.*942G>C (n.*942G>C) c.*869G>C (n.*869G>C) c.802G>C (p.Ala268Pro) c.955G>C (p.Ala319Pro) c.1135G>C (p.Ala379Pro) | ClinVar dbSNP |
| 7 | g.117540275G= | CA1737332345 | CFTR | c.1045G= (p.Ala349=) c.*942G= (n.*942G=) c.*869G= (n.*869G=) c.802G= (p.Ala268=) c.955G= (p.Ala319=) c.1135G= (p.Ala379=) | |
| 7 | g.117540275G>T | CA368978885 | CFTR | c.1045G>T (p.Ala349Ser) c.*942G>T (n.*942G>T) c.*869G>T (n.*869G>T) c.802G>T (p.Ala268Ser) c.955G>T (p.Ala319Ser) c.1135G>T (p.Ala379Ser) | |
| 7 | g.117540276C>A | CA368978887 | CFTR | c.1046C>A (p.Ala349Glu) c.*943C>A (n.*943C>A) c.*870C>A (n.*870C>A) c.803C>A (p.Ala268Glu) c.956C>A (p.Ala319Glu) c.1136C>A (p.Ala379Glu) | |
| 7 | g.117540276C= | CA1737332352 | CFTR | c.1046C= (p.Ala349=) c.*943C= (n.*943C=) c.*870C= (n.*870C=) c.803C= (p.Ala268=) c.956C= (p.Ala319=) c.1136C= (p.Ala379=) | |
| 7 | g.117540276C>G | CA368978888 | CFTR | c.1046C>G (p.Ala349Gly) c.*943C>G (n.*943C>G) c.*870C>G (n.*870C>G) c.803C>G (p.Ala268Gly) c.956C>G (p.Ala319Gly) c.1136C>G (p.Ala379Gly) | |
| 7 | g.117540276C>T | CA325562 | CFTR | c.1046C>T (p.Ala349Val) c.*943C>T (n.*943C>T) c.*870C>T (n.*870C>T) c.803C>T (p.Ala268Val) c.956C>T (p.Ala319Val) c.1136C>T (p.Ala379Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540277G>A | CA4450881 | CFTR | c.1047G>A (p.Ala349=) c.*944G>A (n.*944G>A) c.*871G>A (n.*871G>A) c.804G>A (p.Ala268=) c.957G>A (p.Ala319=) c.1137G>A (p.Ala379=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540277G>C | CA457448771 | CFTR | c.1047G>C (p.Ala349=) c.*944G>C (n.*944G>C) c.*871G>C (n.*871G>C) c.804G>C (p.Ala268=) c.957G>C (p.Ala319=) c.1137G>C (p.Ala379=) | |
| 7 | g.117540277G= | CA1737332369 | CFTR | c.1047G= (p.Ala349=) c.*944G= (n.*944G=) c.*871G= (n.*871G=) c.804G= (p.Ala268=) c.957G= (p.Ala319=) c.1137G= (p.Ala379=) | |
| 7 | g.117540277G>T | CA457448772 | CFTR | c.1047G>T (p.Ala349=) c.*944G>T (n.*944G>T) c.*871G>T (n.*871G>T) c.804G>T (p.Ala268=) c.957G>T (p.Ala319=) c.1137G>T (p.Ala379=) | ClinVar dbSNP |
| 7 | g.117540278G>A | CA368978893 | CFTR | c.1048G>A (p.Val350Ile) c.*945G>A (n.*945G>A) c.*872G>A (n.*872G>A) c.805G>A (p.Val269Ile) c.958G>A (p.Val320Ile) c.1138G>A (p.Val380Ile) | |
| 7 | g.117540278G>C | CA368978895 | CFTR | c.1048G>C (p.Val350Leu) c.*945G>C (n.*945G>C) c.*872G>C (n.*872G>C) c.805G>C (p.Val269Leu) c.958G>C (p.Val320Leu) c.1138G>C (p.Val380Leu) | |
| 7 | g.117540278G>T | CA368978892 | CFTR | c.1048G>T (p.Val350Phe) c.*945G>T (n.*945G>T) c.*872G>T (n.*872G>T) c.805G>T (p.Val269Phe) c.958G>T (p.Val320Phe) c.1138G>T (p.Val380Phe) | |
| 7 | g.117540279T>A | CA368978897 | CFTR | c.1049T>A (p.Val350Asp) c.*946T>A (n.*946T>A) c.*873T>A (n.*873T>A) c.806T>A (p.Val269Asp) c.959T>A (p.Val320Asp) c.1139T>A (p.Val380Asp) | |
| 7 | g.117540279T>C | CA368978899 | CFTR | c.1049T>C (p.Val350Ala) c.*946T>C (n.*946T>C) c.*873T>C (n.*873T>C) c.806T>C (p.Val269Ala) c.959T>C (p.Val320Ala) c.1139T>C (p.Val380Ala) | |
| 7 | g.117540279T>G | CA368978900 | CFTR | c.1049T>G (p.Val350Gly) c.*946T>G (n.*946T>G) c.*873T>G (n.*873T>G) c.806T>G (p.Val269Gly) c.959T>G (p.Val320Gly) c.1139T>G (p.Val380Gly) | |
| 7 | g.117540280C>A | CA457448774 | CFTR | c.1050C>A (p.Val350=) c.*947C>A (n.*947C>A) c.*874C>A (n.*874C>A) c.807C>A (p.Val269=) c.960C>A (p.Val320=) c.1140C>A (p.Val380=) | |
| 7 | g.117540280C= | CA1737332382 | CFTR | c.1050C= (p.Val350=) c.*947C= (n.*947C=) c.*874C= (n.*874C=) c.807C= (p.Val269=) c.960C= (p.Val320=) c.1140C= (p.Val380=) | |
| 7 | g.117540280C>G | CA164953945 | CFTR | c.1050C>G (p.Val350=) c.*947C>G (n.*947C>G) c.*874C>G (n.*874C>G) c.807C>G (p.Val269=) c.960C>G (p.Val320=) c.1140C>G (p.Val380=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540280C>T | CA457448773 | CFTR | c.1050C>T (p.Val350=) c.*947C>T (n.*947C>T) c.*874C>T (n.*874C>T) c.807C>T (p.Val269=) c.960C>T (p.Val320=) c.1140C>T (p.Val380=) | ClinVar gnomAD v4 |
| 7 | g.117540281A= | CA1737332391 | CFTR | c.1051A= (p.Thr351=) c.*948A= (n.*948A=) c.*875A= (n.*875A=) c.808A= (p.Thr270=) c.961A= (p.Thr321=) c.1141A= (p.Thr381=) | |
| 7 | g.117540281A>C | CA368978901 | CFTR | c.1051A>C (p.Thr351Pro) c.*948A>C (n.*948A>C) c.*875A>C (n.*875A>C) c.808A>C (p.Thr270Pro) c.961A>C (p.Thr321Pro) c.1141A>C (p.Thr381Pro) | |
| 7 | g.117540281A>G | CA368978902 | CFTR | c.1051A>G (p.Thr351Ala) c.*948A>G (n.*948A>G) c.*875A>G (n.*875A>G) c.808A>G (p.Thr270Ala) c.961A>G (p.Thr321Ala) c.1141A>G (p.Thr381Ala) | ClinVar dbSNP |
| 7 | g.117540281A>T | CA368978904 | CFTR | c.1051A>T (p.Thr351Ser) c.*948A>T (n.*948A>T) c.*875A>T (n.*875A>T) c.808A>T (p.Thr270Ser) c.961A>T (p.Thr321Ser) c.1141A>T (p.Thr381Ser) | gnomAD v4 |
| 7 | g.117540282C>A | CA368978907 | CFTR | c.1052C>A (p.Thr351Asn) c.*949C>A (n.*949C>A) c.*876C>A (n.*876C>A) c.809C>A (p.Thr270Asn) c.962C>A (p.Thr321Asn) c.1142C>A (p.Thr381Asn) | |
| 7 | g.117540282C= | CA1737332399 | CFTR | c.1052C= (p.Thr351=) c.*949C= (n.*949C=) c.*876C= (n.*876C=) c.809C= (p.Thr270=) c.962C= (p.Thr321=) c.1142C= (p.Thr381=) | |
| 7 | g.117540282C>G | CA326377 | CFTR | c.1052C>G (p.Thr351Ser) c.*949C>G (n.*949C>G) c.*876C>G (n.*876C>G) c.809C>G (p.Thr270Ser) c.962C>G (p.Thr321Ser) c.1142C>G (p.Thr381Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540282C>T | CA4450882 | CFTR | c.1052C>T (p.Thr351Ile) c.*949C>T (n.*949C>T) c.*876C>T (n.*876C>T) c.809C>T (p.Thr270Ile) c.962C>T (p.Thr321Ile) c.1142C>T (p.Thr381Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |