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.117540227C>A | CA368978696 | CFTR | c.997C>A (p.Leu333Ile) c.*894C>A (n.*894C>A) c.*821C>A (n.*821C>A) c.754C>A (p.Leu252Ile) c.907C>A (p.Leu303Ile) c.1087C>A (p.Leu363Ile) | |
| 7 | g.117540227C= | CA1737332092 | CFTR | c.997C= (p.Leu333=) c.*894C= (n.*894C=) c.*821C= (n.*821C=) c.754C= (p.Leu252=) c.907C= (p.Leu303=) c.1087C= (p.Leu363=) | |
| 7 | g.117540227C>G | CA368978724 | CFTR | c.997C>G (p.Leu333Val) c.*894C>G (n.*894C>G) c.*821C>G (n.*821C>G) c.754C>G (p.Leu252Val) c.907C>G (p.Leu303Val) c.1087C>G (p.Leu363Val) | |
| 7 | g.117540227C>T | CA260262 | CFTR | c.997C>T (p.Leu333Phe) c.*894C>T (n.*894C>T) c.*821C>T (n.*821C>T) c.754C>T (p.Leu252Phe) c.907C>T (p.Leu303Phe) c.1087C>T (p.Leu363Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540228T>A | CA368978727 | CFTR | c.998T>A (p.Leu333His) c.*895T>A (n.*895T>A) c.*822T>A (n.*822T>A) c.755T>A (p.Leu252His) c.908T>A (p.Leu303His) c.1088T>A (p.Leu363His) | gnomAD v4 |
| 7 | g.117540228T>C | CA368978731 | CFTR | c.998T>C (p.Leu333Pro) c.*895T>C (n.*895T>C) c.*822T>C (n.*822T>C) c.755T>C (p.Leu252Pro) c.908T>C (p.Leu303Pro) c.1088T>C (p.Leu363Pro) | gnomAD v4 |
| 7 | g.117540228T>G | CA368978730 | CFTR | c.998T>G (p.Leu333Arg) c.*895T>G (n.*895T>G) c.*822T>G (n.*822T>G) c.755T>G (p.Leu252Arg) c.908T>G (p.Leu303Arg) c.1088T>G (p.Leu363Arg) | |
| 7 | g.117540229C>A | CA457448742 | CFTR | c.999C>A (p.Leu333=) c.*896C>A (n.*896C>A) c.*823C>A (n.*823C>A) c.756C>A (p.Leu252=) c.909C>A (p.Leu303=) c.1089C>A (p.Leu363=) | |
| 7 | g.117540229C>G | CA457448743 | CFTR | c.999C>G (p.Leu333=) c.*896C>G (n.*896C>G) c.*823C>G (n.*823C>G) c.756C>G (p.Leu252=) c.909C>G (p.Leu303=) c.1089C>G (p.Leu363=) | |
| 7 | g.117540229C>T | CA457448744 | CFTR | c.999C>T (p.Leu333=) c.*896C>T (n.*896C>T) c.*823C>T (n.*823C>T) c.756C>T (p.Leu252=) c.909C>T (p.Leu303=) c.1089C>T (p.Leu363=) | COSMIC |
| 7 | g.117540230C>A | CA457448745 | CFTR | c.1000C>A (p.Arg334=) c.*897C>A (n.*897C>A) c.*824C>A (n.*824C>A) c.757C>A (p.Arg253=) c.910C>A (p.Arg304=) c.1090C>A (p.Arg364=) | |
| 7 | g.117540230C= | CA1737332096 | CFTR | c.1000C= (p.Arg334=) c.*897C= (n.*897C=) c.*824C= (n.*824C=) c.757C= (p.Arg253=) c.910C= (p.Arg304=) c.1090C= (p.Arg364=) | |
| 7 | g.117540230C>G | CA368978733 | CFTR | c.1000C>G (p.Arg334Gly) c.*897C>G (n.*897C>G) c.*824C>G (n.*824C>G) c.757C>G (p.Arg253Gly) c.910C>G (p.Arg304Gly) c.1090C>G (p.Arg364Gly) | |
| 7 | g.117540230C>T | CA340644 | CFTR | c.1000C>T (p.Arg334Trp) c.*897C>T (n.*897C>T) c.*824C>T (n.*824C>T) c.757C>T (p.Arg253Trp) c.910C>T (p.Arg304Trp) c.1090C>T (p.Arg364Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117540231G>A | CA326358 | CFTR | c.1001G>A (p.Arg334Gln) c.*898G>A (n.*898G>A) c.*825G>A (n.*825G>A) c.758G>A (p.Arg253Gln) c.911G>A (p.Arg304Gln) c.1091G>A (p.Arg364Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117540231G>C | CA368978737 | CFTR | c.1001G>C (p.Arg334Pro) c.*898G>C (n.*898G>C) c.*825G>C (n.*825G>C) c.758G>C (p.Arg253Pro) c.911G>C (p.Arg304Pro) c.1091G>C (p.Arg364Pro) | |
| 7 | g.117540231G= | CA1737332108 | CFTR | c.1001G= (p.Arg334=) c.*898G= (n.*898G=) c.*825G= (n.*825G=) c.758G= (p.Arg253=) c.911G= (p.Arg304=) c.1091G= (p.Arg364=) | |
| 7 | g.117540231G>T | CA326360 | CFTR | c.1001G>T (p.Arg334Leu) c.*898G>T (n.*898G>T) c.*825G>T (n.*825G>T) c.758G>T (p.Arg253Leu) c.911G>T (p.Arg304Leu) c.1091G>T (p.Arg364Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540232G>A | CA164953708 | CFTR | c.1002G>A (p.Arg334=) c.*899G>A (n.*899G>A) c.*826G>A (n.*826G>A) c.759G>A (p.Arg253=) c.912G>A (p.Arg304=) c.1092G>A (p.Arg364=) | dbSNP |
| 7 | g.117540232G>C | CA457448746 | CFTR | c.1002G>C (p.Arg334=) c.*899G>C (n.*899G>C) c.*826G>C (n.*826G>C) c.759G>C (p.Arg253=) c.912G>C (p.Arg304=) c.1092G>C (p.Arg364=) | |
| 7 | g.117540232G= | CA1737332123 | CFTR | c.1002G= (p.Arg334=) c.*899G= (n.*899G=) c.*826G= (n.*826G=) c.759G= (p.Arg253=) c.912G= (p.Arg304=) c.1092G= (p.Arg364=) | |
| 7 | g.117540232G>T | CA457448747 | CFTR | c.1002G>T (p.Arg334=) c.*899G>T (n.*899G>T) c.*826G>T (n.*826G>T) c.759G>T (p.Arg253=) c.912G>T (p.Arg304=) c.1092G>T (p.Arg364=) | |
| 7 | g.117540233A= | CA1737332131 | CFTR | c.1003A= (p.Lys335=) c.*900A= (n.*900A=) c.*827A= (n.*827A=) c.760A= (p.Lys254=) c.913A= (p.Lys305=) c.1093A= (p.Lys365=) | |
| 7 | g.117540233A>C | CA368978740 | CFTR | c.1003A>C (p.Lys335Gln) c.*900A>C (n.*900A>C) c.*827A>C (n.*827A>C) c.760A>C (p.Lys254Gln) c.913A>C (p.Lys305Gln) c.1093A>C (p.Lys365Gln) | |
| 7 | g.117540233A>G | CA368978742 | CFTR | c.1003A>G (p.Lys335Glu) c.*900A>G (n.*900A>G) c.*827A>G (n.*827A>G) c.760A>G (p.Lys254Glu) c.913A>G (p.Lys305Glu) c.1093A>G (p.Lys365Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540233A>T | CA368978744 | CFTR | c.1003A>T (p.Lys335Ter) c.*900A>T (n.*900A>T) c.*827A>T (n.*827A>T) c.760A>T (p.Lys254Ter) c.913A>T (p.Lys305Ter) c.1093A>T (p.Lys365Ter) | |
| 7 | g.117540236del | CA2695208308 | CFTR | c.1006del (p.Ile336TyrfsTer?) c.*903del (n.*903del) c.*830del (n.*830del) c.763del (p.Ile255TyrfsTer?) c.916del (p.Ile306TyrfsTer?) c.1096del (p.Ile366TyrfsTer?) | |
| 7 | g.117540234A>C | CA368978745 | CFTR | c.1004A>C (p.Lys335Thr) c.*901A>C (n.*901A>C) c.*828A>C (n.*828A>C) c.761A>C (p.Lys254Thr) c.914A>C (p.Lys305Thr) c.1094A>C (p.Lys365Thr) | |
| 7 | g.117540234A>G | CA368978747 | CFTR | c.1004A>G (p.Lys335Arg) c.*901A>G (n.*901A>G) c.*828A>G (n.*828A>G) c.761A>G (p.Lys254Arg) c.914A>G (p.Lys305Arg) c.1094A>G (p.Lys365Arg) | |
| 7 | g.117540234A>T | CA368978748 | CFTR | c.1004A>T (p.Lys335Ile) c.*901A>T (n.*901A>T) c.*828A>T (n.*828A>T) c.761A>T (p.Lys254Ile) c.914A>T (p.Lys305Ile) c.1094A>T (p.Lys365Ile) | COSMIC |
| 7 | g.117540235A= | CA1737332135 | CFTR | c.1005A= (p.Lys335=) c.*902A= (n.*902A=) c.*829A= (n.*829A=) c.762A= (p.Lys254=) c.915A= (p.Lys305=) c.1095A= (p.Lys365=) | |
| 7 | g.117540235A>C | CA368978751 | CFTR | c.1005A>C (p.Lys335Asn) c.*902A>C (n.*902A>C) c.*829A>C (n.*829A>C) c.762A>C (p.Lys254Asn) c.915A>C (p.Lys305Asn) c.1095A>C (p.Lys365Asn) | |
| 7 | g.117540235A>G | CA457448748 | CFTR | c.1005A>G (p.Lys335=) c.*902A>G (n.*902A>G) c.*829A>G (n.*829A>G) c.762A>G (p.Lys254=) c.915A>G (p.Lys305=) c.1095A>G (p.Lys365=) | |
| 7 | g.117540235A>T | CA368978750 | CFTR | c.1005A>T (p.Lys335Asn) c.*902A>T (n.*902A>T) c.*829A>T (n.*829A>T) c.762A>T (p.Lys254Asn) c.915A>T (p.Lys305Asn) c.1095A>T (p.Lys365Asn) | |
| 7 | g.117540236A= | CA1737332152 | CFTR | c.1006A= (p.Ile336=) c.*903A= (n.*903A=) c.*830A= (n.*830A=) c.763A= (p.Ile255=) c.916A= (p.Ile306=) c.1096A= (p.Ile366=) | |
| 7 | g.117540236A>C | CA368978752 | CFTR | c.1006A>C (p.Ile336Leu) c.*903A>C (n.*903A>C) c.*830A>C (n.*830A>C) c.763A>C (p.Ile255Leu) c.916A>C (p.Ile306Leu) c.1096A>C (p.Ile366Leu) | |
| 7 | g.117540236A>G | CA368978754 | CFTR | c.1006A>G (p.Ile336Val) c.*903A>G (n.*903A>G) c.*830A>G (n.*830A>G) c.763A>G (p.Ile255Val) c.916A>G (p.Ile306Val) c.1096A>G (p.Ile366Val) | |
| 7 | g.117540236A>T | CA368978756 | CFTR | c.1006A>T (p.Ile336Leu) c.*903A>T (n.*903A>T) c.*830A>T (n.*830A>T) c.763A>T (p.Ile255Leu) c.916A>T (p.Ile306Leu) c.1096A>T (p.Ile366Leu) | |
| 7 | g.117540238_117540249dup | CA326363 | CFTR | c.1008_1019dup (p.Ile340_Ser341insPheThrThrIle) c.*905_*916dup (n.*905_*916dup) c.*832_*843dup (n.*832_*843dup) c.765_776dup (p.Ile259_Ser260insPheThrThrIle) c.918_929dup (p.Ile310_Ser311insPheThrThrIle) c.1098_1109dup (p.Ile370_Ser371insPheThrThrIle) | ClinVar dbSNP |
| 7 | g.117540236_117540237insG | CA326362 | CFTR | c.1006_1007insG (p.Ile336SerfsTer28) c.*903_*904insG (n.*903_*904insG) c.*830_*831insG (n.*830_*831insG) c.763_764insG (p.Ile255SerfsTer28) c.916_917insG (p.Ile306SerfsTer28) c.1096_1097insG (p.Ile366SerfsTer28) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540237T>A | CA345302 | CFTR | c.1007T>A (p.Ile336Lys) c.*904T>A (n.*904T>A) c.*831T>A (n.*831T>A) c.764T>A (p.Ile255Lys) c.917T>A (p.Ile306Lys) c.1097T>A (p.Ile366Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540237T>C | CA4450876 | CFTR | c.1007T>C (p.Ile336Thr) c.*904T>C (n.*904T>C) c.*831T>C (n.*831T>C) c.764T>C (p.Ile255Thr) c.917T>C (p.Ile306Thr) c.1097T>C (p.Ile366Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540237T>G | CA368978760 | CFTR | c.1007T>G (p.Ile336Arg) c.*904T>G (n.*904T>G) c.*831T>G (n.*831T>G) c.764T>G (p.Ile255Arg) c.917T>G (p.Ile306Arg) c.1097T>G (p.Ile366Arg) | |
| 7 | g.117540237T= | CA1737332163 | CFTR | c.1007T= (p.Ile336=) c.*904T= (n.*904T=) c.*831T= (n.*831T=) c.764T= (p.Ile255=) c.917T= (p.Ile306=) c.1097T= (p.Ile366=) | |
| 7 | g.117540238A>C | CA457448749 | CFTR | c.1008A>C (p.Ile336=) c.*905A>C (n.*905A>C) c.*832A>C (n.*832A>C) c.765A>C (p.Ile255=) c.918A>C (p.Ile306=) c.1098A>C (p.Ile366=) | |
| 7 | g.117540238A>G | CA368978762 | CFTR | c.1008A>G (p.Ile336Met) c.*905A>G (n.*905A>G) c.*832A>G (n.*832A>G) c.765A>G (p.Ile255Met) c.918A>G (p.Ile306Met) c.1098A>G (p.Ile366Met) | |
| 7 | g.117540238A>T | CA457448750 | CFTR | c.1008A>T (p.Ile336=) c.*905A>T (n.*905A>T) c.*832A>T (n.*832A>T) c.765A>T (p.Ile255=) c.918A>T (p.Ile306=) c.1098A>T (p.Ile366=) | |
| 7 | g.117540239T>A | CA368978763 | CFTR | c.1009T>A (p.Phe337Ile) c.*906T>A (n.*906T>A) c.*833T>A (n.*833T>A) c.766T>A (p.Phe256Ile) c.919T>A (p.Phe307Ile) c.1099T>A (p.Phe367Ile) |