WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.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 |
| 7 | g.117540283_117540284del | CA2695208310 | CFTR | c.1053_1054del (p.Arg352AlafsTer11) c.*950_*951del (n.*950_*951del) c.*877_*878del (n.*877_*878del) c.810_811del (p.Arg271AlafsTer11) c.963_964del (p.Arg322AlafsTer11) c.1143_1144del (p.Arg382AlafsTer11) | |
| 7 | g.117540283T>A | CA457448775 | CFTR | c.1053T>A (p.Thr351=) c.*950T>A (n.*950T>A) c.*877T>A (n.*877T>A) c.810T>A (p.Thr270=) c.963T>A (p.Thr321=) c.1143T>A (p.Thr381=) | gnomAD v4 |
| 7 | g.117540283T>C | CA457448776 | CFTR | c.1053T>C (p.Thr351=) c.*950T>C (n.*950T>C) c.*877T>C (n.*877T>C) c.810T>C (p.Thr270=) c.963T>C (p.Thr321=) c.1143T>C (p.Thr381=) | |
| 7 | g.117540283T>G | CA457448777 | CFTR | c.1053T>G (p.Thr351=) c.*950T>G (n.*950T>G) c.*877T>G (n.*877T>G) c.810T>G (p.Thr270=) c.963T>G (p.Thr321=) c.1143T>G (p.Thr381=) | |
| 7 | g.117540284C>A | CA457448778 | CFTR | c.1054C>A (p.Arg352=) c.*951C>A (n.*951C>A) c.*878C>A (n.*878C>A) c.811C>A (p.Arg271=) c.964C>A (p.Arg322=) c.1144C>A (p.Arg382=) | |
| 7 | g.117540284C= | CA1737332416 | CFTR | c.1054C= (p.Arg352=) c.*951C= (n.*951C=) c.*878C= (n.*878C=) c.811C= (p.Arg271=) c.964C= (p.Arg322=) c.1144C= (p.Arg382=) | |
| 7 | g.117540284C>G | CA368978908 | CFTR | c.1054C>G (p.Arg352Gly) c.*951C>G (n.*951C>G) c.*878C>G (n.*878C>G) c.811C>G (p.Arg271Gly) c.964C>G (p.Arg322Gly) c.1144C>G (p.Arg382Gly) | gnomAD v4 |
| 7 | g.117540284C>T | CA325686 | CFTR | c.1054C>T (p.Arg352Trp) c.*951C>T (n.*951C>T) c.*878C>T (n.*878C>T) c.811C>T (p.Arg271Trp) c.964C>T (p.Arg322Trp) c.1144C>T (p.Arg382Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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) |