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.117542051del | CA326419 | CFTR | c.1152del (p.Glu384AspfsTer4) c.*1049del (n.*1049del) c.*976del (n.*976del) c.909del (p.Glu303AspfsTer4) c.1062del (p.Glu354AspfsTer4) c.1242del (p.Glu414AspfsTer4) | ClinVar dbSNP |
| 7 | g.117542051A= | CA1737334987 | CFTR | c.1152A= (p.Glu384=) c.*1049A= (n.*1049A=) c.*976A= (n.*976A=) c.909A= (p.Glu303=) c.1062A= (p.Glu354=) c.1242A= (p.Glu414=) | |
| 7 | g.117542051A>C | CA368979995 | CFTR | c.1152A>C (p.Glu384Asp) c.*1049A>C (n.*1049A>C) c.*976A>C (n.*976A>C) c.909A>C (p.Glu303Asp) c.1062A>C (p.Glu354Asp) c.1242A>C (p.Glu414Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117542051A>G | CA457227617 | CFTR | c.1152A>G (p.Glu384=) c.*1049A>G (n.*1049A>G) c.*976A>G (n.*976A>G) c.909A>G (p.Glu303=) c.1062A>G (p.Glu354=) c.1242A>G (p.Glu414=) | ClinVar COSMIC |
| 7 | g.117542051A>T | CA368979990 | CFTR | c.1152A>T (p.Glu384Asp) c.*1049A>T (n.*1049A>T) c.*976A>T (n.*976A>T) c.909A>T (p.Glu303Asp) c.1062A>T (p.Glu354Asp) c.1242A>T (p.Glu414Asp) | |
| 7 | g.117542054_117542055dup | CA326420 | CFTR | c.1155_1156dup (p.Asn386IlefsTer3) c.*1052_*1053dup (n.*1052_*1053dup) c.*979_*980dup (n.*979_*980dup) c.912_913dup (p.Asn305IlefsTer3) c.1065_1066dup (p.Asn356IlefsTer3) c.1245_1246dup (p.Asn416IlefsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117542052T>A | CA368979998 | CFTR | c.1153T>A (p.Tyr385Asn) c.*1050T>A (n.*1050T>A) c.*977T>A (n.*977T>A) c.910T>A (p.Tyr304Asn) c.1063T>A (p.Tyr355Asn) c.1243T>A (p.Tyr415Asn) | ClinVar |
| 7 | g.117542052T>C | CA368980006 | CFTR | c.1153T>C (p.Tyr385His) c.*1050T>C (n.*1050T>C) c.*977T>C (n.*977T>C) c.910T>C (p.Tyr304His) c.1063T>C (p.Tyr355His) c.1243T>C (p.Tyr415His) | ClinVar dbSNP |
| 7 | g.117542052T>G | CA368980009 | CFTR | c.1153T>G (p.Tyr385Asp) c.*1050T>G (n.*1050T>G) c.*977T>G (n.*977T>G) c.910T>G (p.Tyr304Asp) c.1063T>G (p.Tyr355Asp) c.1243T>G (p.Tyr415Asp) | |
| 7 | g.117542052T= | CA1737334994 | CFTR | c.1153T= (p.Tyr385=) c.*1050T= (n.*1050T=) c.*977T= (n.*977T=) c.910T= (p.Tyr304=) c.1063T= (p.Tyr355=) c.1243T= (p.Tyr415=) | |
| 7 | g.117542053A= | CA1737334998 | CFTR | c.1154A= (p.Tyr385=) c.*1051A= (n.*1051A=) c.*978A= (n.*978A=) c.911A= (p.Tyr304=) c.1064A= (p.Tyr355=) c.1244A= (p.Tyr415=) | |
| 7 | g.117542053A>C | CA368980013 | CFTR | c.1154A>C (p.Tyr385Ser) c.*1051A>C (n.*1051A>C) c.*978A>C (n.*978A>C) c.911A>C (p.Tyr304Ser) c.1064A>C (p.Tyr355Ser) c.1244A>C (p.Tyr415Ser) | |
| 7 | g.117542053A>G | CA368980015 | CFTR | c.1154A>G (p.Tyr385Cys) c.*1051A>G (n.*1051A>G) c.*978A>G (n.*978A>G) c.911A>G (p.Tyr304Cys) c.1064A>G (p.Tyr355Cys) c.1244A>G (p.Tyr415Cys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117542053A>T | CA368980023 | CFTR | c.1154A>T (p.Tyr385Phe) c.*1051A>T (n.*1051A>T) c.*978A>T (n.*978A>T) c.911A>T (p.Tyr304Phe) c.1064A>T (p.Tyr355Phe) c.1244A>T (p.Tyr415Phe) | |
| 7 | g.117542054T>A | CA368980026 | CFTR | c.1155T>A (p.Tyr385Ter) c.*1052T>A (n.*1052T>A) c.*979T>A (n.*979T>A) c.912T>A (p.Tyr304Ter) c.1065T>A (p.Tyr355Ter) c.1245T>A (p.Tyr415Ter) | ClinVar |
| 7 | g.117542054T>C | CA457227619 | CFTR | c.1155T>C (p.Tyr385=) c.*1052T>C (n.*1052T>C) c.*979T>C (n.*979T>C) c.912T>C (p.Tyr304=) c.1065T>C (p.Tyr355=) c.1245T>C (p.Tyr415=) | ClinVar gnomAD v4 |
| 7 | g.117542054T>G | CA368980028 | CFTR | c.1155T>G (p.Tyr385Ter) c.*1052T>G (n.*1052T>G) c.*979T>G (n.*979T>G) c.912T>G (p.Tyr304Ter) c.1065T>G (p.Tyr355Ter) c.1245T>G (p.Tyr415Ter) | |
| 7 | g.117542055A= | CA1737335003 | CFTR | c.1156A= (p.Asn386=) c.*1053A= (n.*1053A=) c.*980A= (n.*980A=) c.913A= (p.Asn305=) c.1066A= (p.Asn356=) c.1246A= (p.Asn416=) | |
| 7 | g.117542055A>C | CA368980035 | CFTR | c.1156A>C (p.Asn386His) c.*1053A>C (n.*1053A>C) c.*980A>C (n.*980A>C) c.913A>C (p.Asn305His) c.1066A>C (p.Asn356His) c.1246A>C (p.Asn416His) | |
| 7 | g.117542055A>G | CA368980033 | CFTR | c.1156A>G (p.Asn386Asp) c.*1053A>G (n.*1053A>G) c.*980A>G (n.*980A>G) c.913A>G (p.Asn305Asp) c.1066A>G (p.Asn356Asp) c.1246A>G (p.Asn416Asp) | gnomAD v4 |
| 7 | g.117542055A>T | CA164955671 | CFTR | c.1156A>T (p.Asn386Tyr) c.*1053A>T (n.*1053A>T) c.*980A>T (n.*980A>T) c.913A>T (p.Asn305Tyr) c.1066A>T (p.Asn356Tyr) c.1246A>T (p.Asn416Tyr) | dbSNP |
| 7 | g.117542056A>C | CA368980037 | CFTR | c.1157A>C (p.Asn386Thr) c.*1054A>C (n.*1054A>C) c.*981A>C (n.*981A>C) c.914A>C (p.Asn305Thr) c.1067A>C (p.Asn356Thr) c.1247A>C (p.Asn416Thr) | |
| 7 | g.117542056A>G | CA368980039 | CFTR | c.1157A>G (p.Asn386Ser) c.*1054A>G (n.*1054A>G) c.*981A>G (n.*981A>G) c.914A>G (p.Asn305Ser) c.1067A>G (p.Asn356Ser) c.1247A>G (p.Asn416Ser) | gnomAD v4 |
| 7 | g.117542056A>T | CA368980043 | CFTR | c.1157A>T (p.Asn386Ile) c.*1054A>T (n.*1054A>T) c.*981A>T (n.*981A>T) c.914A>T (p.Asn305Ile) c.1067A>T (p.Asn356Ile) c.1247A>T (p.Asn416Ile) | |
| 7 | g.117542057C>A | CA368980045 | CFTR | c.1158C>A (p.Asn386Lys) c.*1055C>A (n.*1055C>A) c.*982C>A (n.*982C>A) c.915C>A (p.Asn305Lys) c.1068C>A (p.Asn356Lys) c.1248C>A (p.Asn416Lys) | gnomAD v4 |
| 7 | g.117542057C= | CA1737335006 | CFTR | c.1158C= (p.Asn386=) c.*1055C= (n.*1055C=) c.*982C= (n.*982C=) c.915C= (p.Asn305=) c.1068C= (p.Asn356=) c.1248C= (p.Asn416=) | |
| 7 | g.117542057C>G | CA368980048 | CFTR | c.1158C>G (p.Asn386Lys) c.*1055C>G (n.*1055C>G) c.*982C>G (n.*982C>G) c.915C>G (p.Asn305Lys) c.1068C>G (p.Asn356Lys) c.1248C>G (p.Asn416Lys) | COSMIC |
| 7 | g.117542057C>T | CA4450911 | CFTR | c.1158C>T (p.Asn386=) c.*1055C>T (n.*1055C>T) c.*982C>T (n.*982C>T) c.915C>T (p.Asn305=) c.1068C>T (p.Asn356=) c.1248C>T (p.Asn416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117542058T>A | CA368980050 | CFTR | c.1159T>A (p.Leu387Ile) c.*1056T>A (n.*1056T>A) c.*983T>A (n.*983T>A) c.916T>A (p.Leu306Ile) c.1069T>A (p.Leu357Ile) c.1249T>A (p.Leu417Ile) | |
| 7 | g.117542058T>C | CA457227627 | CFTR | c.1159T>C (p.Leu387=) c.*1056T>C (n.*1056T>C) c.*983T>C (n.*983T>C) c.916T>C (p.Leu306=) c.1069T>C (p.Leu357=) c.1249T>C (p.Leu417=) | ClinVar dbSNP |
| 7 | g.117542058T>G | CA368980053 | CFTR | c.1159T>G (p.Leu387Val) c.*1056T>G (n.*1056T>G) c.*983T>G (n.*983T>G) c.916T>G (p.Leu306Val) c.1069T>G (p.Leu357Val) c.1249T>G (p.Leu417Val) | |
| 7 | g.117542058_117542059del | CA2580076474 | CFTR | c.1159_1160del (p.Leu387AsnfsTer23) c.*1056_*1057del (n.*1056_*1057del) c.1159_1160del (p.Leu387AsnfsTer?) c.*983_*984del (n.*983_*984del) c.916_917del (p.Leu306AsnfsTer?) c.916_917del (p.Leu306AsnfsTer23) c.1069_1070del (p.Leu357AsnfsTer23) c.1249_1250del (p.Leu417AsnfsTer23) | ClinVar |
| 7 | g.117542058_117542065delinsTTAACGAC | CA1737335009 | CFTR | c.1159_1166delinsTTAACGAC (p.Leu387=) c.*1056_*1063delinsTTAACGAC (n.*1056_*1063delinsTTAACGAC) c.*983_*990delinsTTAACGAC (n.*983_*990delinsTTAACGAC) c.916_923delinsTTAACGAC (p.Leu306=) c.1069_1076delinsTTAACGAC (p.Leu357=) c.1249_1256delinsTTAACGAC (p.Leu417=) | |
| 7 | g.117542059T>A | CA368980055 | CFTR | c.1160T>A (p.Leu387Ter) c.*1057T>A (n.*1057T>A) c.*984T>A (n.*984T>A) c.917T>A (p.Leu306Ter) c.1070T>A (p.Leu357Ter) c.1250T>A (p.Leu417Ter) | |
| 7 | g.117542059T>C | CA368980056 | CFTR | c.1160T>C (p.Leu387Ser) c.*1057T>C (n.*1057T>C) c.*984T>C (n.*984T>C) c.917T>C (p.Leu306Ser) c.1070T>C (p.Leu357Ser) c.1250T>C (p.Leu417Ser) | dbSNP gnomAD v2 |
| 7 | g.117542059T>G | CA368980057 | CFTR | c.1160T>G (p.Leu387Ter) c.*1057T>G (n.*1057T>G) c.*984T>G (n.*984T>G) c.917T>G (p.Leu306Ter) c.1070T>G (p.Leu357Ter) c.1250T>G (p.Leu417Ter) | |
| 7 | g.117542059T= | CA1737335013 | CFTR | c.1160T= (p.Leu387=) c.*1057T= (n.*1057T=) c.*984T= (n.*984T=) c.917T= (p.Leu306=) c.1070T= (p.Leu357=) c.1250T= (p.Leu417=) | |
| 7 | g.117542061_117542067del | CA326421 | CFTR | c.1162_1168del (p.Thr388GlnfsTer3) c.*1059_*1065del (n.*1059_*1065del) c.*986_*992del (n.*986_*992del) c.919_925del (p.Thr307GlnfsTer3) c.1072_1078del (p.Thr358GlnfsTer3) c.1252_1258del (p.Thr418GlnfsTer3) | ClinVar dbSNP |
| 7 | g.117542060A= | CA1737335022 | CFTR | c.1161A= (p.Leu387=) c.*1058A= (n.*1058A=) c.*985A= (n.*985A=) c.918A= (p.Leu306=) c.1071A= (p.Leu357=) c.1251A= (p.Leu417=) | |
| 7 | g.117542060A>C | CA368980058 | CFTR | c.1161A>C (p.Leu387Phe) c.*1058A>C (n.*1058A>C) c.*985A>C (n.*985A>C) c.918A>C (p.Leu306Phe) c.1071A>C (p.Leu357Phe) c.1251A>C (p.Leu417Phe) | ClinVar |
| 7 | g.117542060A>G | CA457227631 | CFTR | c.1161A>G (p.Leu387=) c.*1058A>G (n.*1058A>G) c.*985A>G (n.*985A>G) c.918A>G (p.Leu306=) c.1071A>G (p.Leu357=) c.1251A>G (p.Leu417=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117542060A>T | CA368980059 | CFTR | c.1161A>T (p.Leu387Phe) c.*1058A>T (n.*1058A>T) c.*985A>T (n.*985A>T) c.918A>T (p.Leu306Phe) c.1071A>T (p.Leu357Phe) c.1251A>T (p.Leu417Phe) | gnomAD v4 |
| 7 | g.117542061A>C | CA368980066 | CFTR | c.1162A>C (p.Thr388Pro) c.*1059A>C (n.*1059A>C) c.*986A>C (n.*986A>C) c.919A>C (p.Thr307Pro) c.1072A>C (p.Thr358Pro) c.1252A>C (p.Thr418Pro) | |
| 7 | g.117542061A>G | CA368980063 | CFTR | c.1162A>G (p.Thr388Ala) c.*1059A>G (n.*1059A>G) c.*986A>G (n.*986A>G) c.919A>G (p.Thr307Ala) c.1072A>G (p.Thr358Ala) c.1252A>G (p.Thr418Ala) | COSMIC |
| 7 | g.117542061A>T | CA368980064 | CFTR | c.1162A>T (p.Thr388Ser) c.*1059A>T (n.*1059A>T) c.*986A>T (n.*986A>T) c.919A>T (p.Thr307Ser) c.1072A>T (p.Thr358Ser) c.1252A>T (p.Thr418Ser) | |
| 7 | g.117542061_117542062delinsTA | CA2695208313 | CFTR | c.1162_1163delinsTA (p.Thr388Ter) c.*1059_*1060delinsTA (n.*1059_*1060delinsTA) c.*986_*987delinsTA (n.*986_*987delinsTA) c.919_920delinsTA (p.Thr307Ter) c.1072_1073delinsTA (p.Thr358Ter) c.1252_1253delinsTA (p.Thr418Ter) | |
| 7 | g.117542062C>A | CA368980067 | CFTR | c.1163C>A (p.Thr388Lys) c.*1060C>A (n.*1060C>A) c.*987C>A (n.*987C>A) c.920C>A (p.Thr307Lys) c.1073C>A (p.Thr358Lys) c.1253C>A (p.Thr418Lys) | ClinVar gnomAD v4 |
| 7 | g.117542062C= | CA1737335030 | CFTR | c.1163C= (p.Thr388=) c.*1060C= (n.*1060C=) c.*987C= (n.*987C=) c.920C= (p.Thr307=) c.1073C= (p.Thr358=) c.1253C= (p.Thr418=) | |
| 7 | g.117542062C>G | CA368980069 | CFTR | c.1163C>G (p.Thr388Arg) c.*1060C>G (n.*1060C>G) c.*987C>G (n.*987C>G) c.920C>G (p.Thr307Arg) c.1073C>G (p.Thr358Arg) c.1253C>G (p.Thr418Arg) | |
| 7 | g.117542062C>T | CA4450912 | CFTR | c.1163C>T (p.Thr388Met) c.*1060C>T (n.*1060C>T) c.*987C>T (n.*987C>T) c.920C>T (p.Thr307Met) c.1073C>T (p.Thr358Met) c.1253C>T (p.Thr418Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |