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 |
|---|---|---|---|---|---|
| 20 | g.63424175_63424192dup | CA2653802241 | KCNQ2 | c.1233_1247+3dup c.684_698+3dup n.72_86+3dup c.891_905+3dup c.1203_1217+3dup n.1359_1376dup c.347_361+3dup c.1107_1121+3dup c.714_728+3dup c.1164_1178+3dup | gnomAD v4 |
| 20 | g.63424176C>A | CA409649169 | KCNQ2 | c.1247+1G>T (n.1247+1G>T) c.698+1G>T (n.698+1G>T) n.86+1G>T c.905+1G>T (n.905+1G>T) c.1217+1G>T (n.1217+1G>T) n.1374G>T c.361+1G>T c.1121+1G>T (n.1121+1G>T) c.728+1G>T (n.728+1G>T) c.1178+1G>T (n.1178+1G>T) | gnomAD v4 |
| 20 | g.63424176C= | CA2374783646 | KCNQ2 | c.1247+1G= (n.1247+1G=) c.698+1G= (n.698+1G=) n.86+1G= c.905+1G= (n.905+1G=) c.1217+1G= (n.1217+1G=) n.1374G= c.361+1G= c.1121+1G= (n.1121+1G=) c.728+1G= (n.728+1G=) c.1178+1G= (n.1178+1G=) | |
| 20 | g.63424176C>G | CA409649170 | KCNQ2 | c.1247+1G>C (n.1247+1G>C) c.698+1G>C (n.698+1G>C) n.86+1G>C c.905+1G>C (n.905+1G>C) c.1217+1G>C (n.1217+1G>C) n.1374G>C c.361+1G>C c.1121+1G>C (n.1121+1G>C) c.728+1G>C (n.728+1G>C) c.1178+1G>C (n.1178+1G>C) | |
| 20 | g.63424176C>T | CA10654791 | KCNQ2 | c.1247+1G>A (n.1247+1G>A) c.698+1G>A (n.698+1G>A) n.86+1G>A c.905+1G>A (n.905+1G>A) c.1217+1G>A (n.1217+1G>A) n.1374G>A c.361+1G>A c.1121+1G>A (n.1121+1G>A) c.728+1G>A (n.728+1G>A) c.1178+1G>A (n.1178+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63424177C>A | CA409649171 | KCNQ2 | c.1247G>T (p.Ser416Ile) c.698G>T (p.Ser233Ile) n.86G>T c.905G>T (p.Ser302Ile) c.1217G>T (p.Ser406Ile) n.1373G>T c.361G>T c.1121G>T (p.Ser374Ile) c.728G>T (p.Ser243Ile) c.1178G>T (p.Ser393Ile) | gnomAD v4 |
| 20 | g.63424177C>G | CA409649173 | KCNQ2 | c.1247G>C (p.Ser416Thr) c.698G>C (p.Ser233Thr) n.86G>C c.905G>C (p.Ser302Thr) c.1217G>C (p.Ser406Thr) n.1373G>C c.361G>C c.1121G>C (p.Ser374Thr) c.728G>C (p.Ser243Thr) c.1178G>C (p.Ser393Thr) | |
| 20 | g.63424177C>T | CA409649172 | KCNQ2 | c.1247G>A (p.Ser416Asn) c.698G>A (p.Ser233Asn) n.86G>A c.905G>A (p.Ser302Asn) c.1217G>A (p.Ser406Asn) n.1373G>A c.361G>A c.1121G>A (p.Ser374Asn) c.728G>A (p.Ser243Asn) c.1178G>A (p.Ser393Asn) | gnomAD v4 |
| 20 | g.63424178T>A | CA409649174 | KCNQ2 | c.1246A>T (p.Ser416Cys) c.697A>T (p.Ser233Cys) n.85A>T c.904A>T (p.Ser302Cys) c.1216A>T (p.Ser406Cys) n.1372A>T c.360A>T c.1120A>T (p.Ser374Cys) c.727A>T (p.Ser243Cys) c.1177A>T (p.Ser393Cys) | gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63424178T>C | CA409649175 | KCNQ2 | c.1246A>G (p.Ser416Gly) c.697A>G (p.Ser233Gly) n.85A>G c.904A>G (p.Ser302Gly) c.1216A>G (p.Ser406Gly) n.1372A>G c.360A>G c.1120A>G (p.Ser374Gly) c.727A>G (p.Ser243Gly) c.1177A>G (p.Ser393Gly) | ClinVar gnomAD v4 |
| 20 | g.63424178T>G | CA409649176 | KCNQ2 | c.1246A>C (p.Ser416Arg) c.697A>C (p.Ser233Arg) n.85A>C c.904A>C (p.Ser302Arg) c.1216A>C (p.Ser406Arg) n.1372A>C c.360A>C c.1120A>C (p.Ser374Arg) c.727A>C (p.Ser243Arg) c.1177A>C (p.Ser393Arg) | |
| 20 | g.63424179T>A | CA511204367 | KCNQ2 | c.1245A>T (p.Pro415=) c.696A>T (p.Pro232=) n.84A>T c.903A>T (p.Pro301=) c.1215A>T (p.Pro405=) n.1371A>T c.359A>T c.1119A>T (p.Pro373=) c.726A>T (p.Pro242=) c.1176A>T (p.Pro392=) | gnomAD v4 |
| 20 | g.63424179T>C | CA511204369 | KCNQ2 | c.1245A>G (p.Pro415=) c.696A>G (p.Pro232=) n.84A>G c.903A>G (p.Pro301=) c.1215A>G (p.Pro405=) n.1371A>G c.359A>G c.1119A>G (p.Pro373=) c.726A>G (p.Pro242=) c.1176A>G (p.Pro392=) | gnomAD v4 |
| 20 | g.63424179T>G | CA511204368 | KCNQ2 | c.1245A>C (p.Pro415=) c.696A>C (p.Pro232=) n.84A>C c.903A>C (p.Pro301=) c.1215A>C (p.Pro405=) n.1371A>C c.359A>C c.1119A>C (p.Pro373=) c.726A>C (p.Pro242=) c.1176A>C (p.Pro392=) | |
| 20 | g.63424180G>A | CA409649177 | KCNQ2 | c.1244C>T (p.Pro415Leu) c.695C>T (p.Pro232Leu) n.83C>T c.902C>T (p.Pro301Leu) c.1214C>T (p.Pro405Leu) n.1370C>T c.358C>T c.1118C>T (p.Pro373Leu) c.725C>T (p.Pro242Leu) c.1175C>T (p.Pro392Leu) | gnomAD v4 |
| 20 | g.63424180G>C | CA409649178 | KCNQ2 | c.1244C>G (p.Pro415Arg) c.695C>G (p.Pro232Arg) n.83C>G c.902C>G (p.Pro301Arg) c.1214C>G (p.Pro405Arg) n.1370C>G c.358C>G c.1118C>G (p.Pro373Arg) c.725C>G (p.Pro242Arg) c.1175C>G (p.Pro392Arg) | gnomAD v4 |
| 20 | g.63424180G>T | CA409649179 | KCNQ2 | c.1244C>A (p.Pro415Gln) c.695C>A (p.Pro232Gln) n.83C>A c.902C>A (p.Pro301Gln) c.1214C>A (p.Pro405Gln) n.1370C>A c.358C>A c.1118C>A (p.Pro373Gln) c.725C>A (p.Pro242Gln) c.1175C>A (p.Pro392Gln) | ClinVar gnomAD v4 |
| 20 | g.63424181_63424183del | CA2573054905 | KCNQ2 | c.1242_1244del (p.Pro415del) c.693_695del (p.Pro232del) n.81_83del c.900_902del (p.Pro301del) c.1212_1214del (p.Pro405del) n.1368_1370del c.356_358del c.1116_1118del (p.Pro373del) c.723_725del (p.Pro242del) c.1173_1175del (p.Pro392del) | ClinVar dbSNP |
| 20 | g.63424181G>A | CA409649180 | KCNQ2 | c.1243C>T (p.Pro415Ser) c.694C>T (p.Pro232Ser) n.82C>T c.901C>T (p.Pro301Ser) c.1213C>T (p.Pro405Ser) n.1369C>T c.357C>T c.1117C>T (p.Pro373Ser) c.724C>T (p.Pro242Ser) c.1174C>T (p.Pro392Ser) | COSMIC COSMIC COSMIC |
| 20 | g.63424181G>C | CA409649181 | KCNQ2 | c.1243C>G (p.Pro415Ala) c.694C>G (p.Pro232Ala) n.82C>G c.901C>G (p.Pro301Ala) c.1213C>G (p.Pro405Ala) n.1369C>G c.357C>G c.1117C>G (p.Pro373Ala) c.724C>G (p.Pro242Ala) c.1174C>G (p.Pro392Ala) | gnomAD v4 |
| 20 | g.63424181G>T | CA409649182 | KCNQ2 | c.1243C>A (p.Pro415Thr) c.694C>A (p.Pro232Thr) n.82C>A c.901C>A (p.Pro301Thr) c.1213C>A (p.Pro405Thr) n.1369C>A c.357C>A c.1117C>A (p.Pro373Thr) c.724C>A (p.Pro242Thr) c.1174C>A (p.Pro392Thr) | gnomAD v4 |
| 20 | g.63424182A>C | CA511204370 | KCNQ2 | c.1242T>G (p.Ser414=) c.693T>G (p.Ser231=) n.81T>G c.900T>G (p.Ser300=) c.1212T>G (p.Ser404=) n.1368T>G c.356T>G c.1116T>G (p.Ser372=) c.723T>G (p.Ser241=) c.1173T>G (p.Ser391=) | ClinVar |
| 20 | g.63424182A>G | CA511204371 | KCNQ2 | c.1242T>C (p.Ser414=) c.693T>C (p.Ser231=) n.81T>C c.900T>C (p.Ser300=) c.1212T>C (p.Ser404=) n.1368T>C c.356T>C c.1116T>C (p.Ser372=) c.723T>C (p.Ser241=) c.1173T>C (p.Ser391=) | |
| 20 | g.63424182A>T | CA511204372 | KCNQ2 | c.1242T>A (p.Ser414=) c.693T>A (p.Ser231=) n.81T>A c.900T>A (p.Ser300=) c.1212T>A (p.Ser404=) n.1368T>A c.356T>A c.1116T>A (p.Ser372=) c.723T>A (p.Ser241=) c.1173T>A (p.Ser391=) | |
| 20 | g.63424183G>A | CA409649183 | KCNQ2 | c.1241C>T (p.Ser414Phe) c.692C>T (p.Ser231Phe) n.80C>T c.899C>T (p.Ser300Phe) c.1211C>T (p.Ser404Phe) n.1367C>T c.355C>T c.1115C>T (p.Ser372Phe) c.722C>T (p.Ser241Phe) c.1172C>T (p.Ser391Phe) | |
| 20 | g.63424183G>C | CA409649184 | KCNQ2 | c.1241C>G (p.Ser414Cys) c.692C>G (p.Ser231Cys) n.80C>G c.899C>G (p.Ser300Cys) c.1211C>G (p.Ser404Cys) n.1367C>G c.355C>G c.1115C>G (p.Ser372Cys) c.722C>G (p.Ser241Cys) c.1172C>G (p.Ser391Cys) | ClinVar dbSNP |
| 20 | g.63424183G= | CA2374783647 | KCNQ2 | c.1241C= (p.Ser414=) c.692C= (p.Ser231=) n.80C= c.899C= (p.Ser300=) c.1211C= (p.Ser404=) n.1367C= c.355C= c.1115C= (p.Ser372=) c.722C= (p.Ser241=) c.1172C= (p.Ser391=) | |
| 20 | g.63424183G>T | CA409649185 | KCNQ2 | c.1241C>A (p.Ser414Tyr) c.692C>A (p.Ser231Tyr) n.80C>A c.899C>A (p.Ser300Tyr) c.1211C>A (p.Ser404Tyr) n.1367C>A c.355C>A c.1115C>A (p.Ser372Tyr) c.722C>A (p.Ser241Tyr) c.1172C>A (p.Ser391Tyr) | gnomAD v4 |
| 20 | g.63424184A>C | CA409649188 | KCNQ2 | c.1240T>G (p.Ser414Ala) c.691T>G (p.Ser231Ala) n.79T>G c.898T>G (p.Ser300Ala) c.1210T>G (p.Ser404Ala) n.1366T>G c.354T>G c.1114T>G (p.Ser372Ala) c.721T>G (p.Ser241Ala) c.1171T>G (p.Ser391Ala) | |
| 20 | g.63424184A>G | CA409649186 | KCNQ2 | c.1240T>C (p.Ser414Pro) c.691T>C (p.Ser231Pro) n.79T>C c.898T>C (p.Ser300Pro) c.1210T>C (p.Ser404Pro) n.1366T>C c.354T>C c.1114T>C (p.Ser372Pro) c.721T>C (p.Ser241Pro) c.1171T>C (p.Ser391Pro) | |
| 20 | g.63424184A>T | CA409649187 | KCNQ2 | c.1240T>A (p.Ser414Thr) c.691T>A (p.Ser231Thr) n.79T>A c.898T>A (p.Ser300Thr) c.1210T>A (p.Ser404Thr) n.1366T>A c.354T>A c.1114T>A (p.Ser372Thr) c.721T>A (p.Ser241Thr) c.1171T>A (p.Ser391Thr) | |
| 20 | g.63424185C>A | CA511204373 | KCNQ2 | c.1239G>T (p.Pro413=) c.690G>T (p.Pro230=) n.78G>T c.897G>T (p.Pro299=) c.1209G>T (p.Pro403=) n.1365G>T c.353G>T c.1113G>T (p.Pro371=) c.720G>T (p.Pro240=) c.1170G>T (p.Pro390=) | dbSNP gnomAD v4 |
| 20 | g.63424185C= | CA2374783648 | KCNQ2 | c.1239G= (p.Pro413=) c.690G= (p.Pro230=) n.78G= c.897G= (p.Pro299=) c.1209G= (p.Pro403=) n.1365G= c.353G= c.1113G= (p.Pro371=) c.720G= (p.Pro240=) c.1170G= (p.Pro390=) | |
| 20 | g.63424185C>G | CA511204374 | KCNQ2 | c.1239G>C (p.Pro413=) c.690G>C (p.Pro230=) n.78G>C c.897G>C (p.Pro299=) c.1209G>C (p.Pro403=) n.1365G>C c.353G>C c.1113G>C (p.Pro371=) c.720G>C (p.Pro240=) c.1170G>C (p.Pro390=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63424185C>T | CA9958550 | KCNQ2 | c.1239G>A (p.Pro413=) c.690G>A (p.Pro230=) n.78G>A c.897G>A (p.Pro299=) c.1209G>A (p.Pro403=) n.1365G>A c.353G>A c.1113G>A (p.Pro371=) c.720G>A (p.Pro240=) c.1170G>A (p.Pro390=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63424186G>A | CA409649189 | KCNQ2 | c.1238C>T (p.Pro413Leu) c.689C>T (p.Pro230Leu) n.77C>T c.896C>T (p.Pro299Leu) c.1208C>T (p.Pro403Leu) n.1364C>T c.352C>T c.1112C>T (p.Pro371Leu) c.719C>T (p.Pro240Leu) c.1169C>T (p.Pro390Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63424186G>C | CA409649190 | KCNQ2 | c.1238C>G (p.Pro413Arg) c.689C>G (p.Pro230Arg) n.77C>G c.896C>G (p.Pro299Arg) c.1208C>G (p.Pro403Arg) n.1364C>G c.352C>G c.1112C>G (p.Pro371Arg) c.719C>G (p.Pro240Arg) c.1169C>G (p.Pro390Arg) | ClinVar dbSNP |
| 20 | g.63424186G= | CA2374783649 | KCNQ2 | c.1238C= (p.Pro413=) c.689C= (p.Pro230=) n.77C= c.896C= (p.Pro299=) c.1208C= (p.Pro403=) n.1364C= c.352C= c.1112C= (p.Pro371=) c.719C= (p.Pro240=) c.1169C= (p.Pro390=) | |
| 20 | g.63424186G>T | CA409649191 | KCNQ2 | c.1238C>A (p.Pro413Gln) c.689C>A (p.Pro230Gln) n.77C>A c.896C>A (p.Pro299Gln) c.1208C>A (p.Pro403Gln) n.1364C>A c.352C>A c.1112C>A (p.Pro371Gln) c.719C>A (p.Pro240Gln) c.1169C>A (p.Pro390Gln) | gnomAD v4 |
| 20 | g.63424187G>A | CA409649192 | KCNQ2 | c.1237C>T (p.Pro413Ser) c.688C>T (p.Pro230Ser) n.76C>T c.895C>T (p.Pro299Ser) c.1207C>T (p.Pro403Ser) n.1363C>T c.351C>T c.1111C>T (p.Pro371Ser) c.718C>T (p.Pro240Ser) c.1168C>T (p.Pro390Ser) | gnomAD v4 |
| 20 | g.63424187G>C | CA409649193 | KCNQ2 | c.1237C>G (p.Pro413Ala) c.688C>G (p.Pro230Ala) n.76C>G c.895C>G (p.Pro299Ala) c.1207C>G (p.Pro403Ala) n.1363C>G c.351C>G c.1111C>G (p.Pro371Ala) c.718C>G (p.Pro240Ala) c.1168C>G (p.Pro390Ala) | |
| 20 | g.63424187G>T | CA409649194 | KCNQ2 | c.1237C>A (p.Pro413Thr) c.688C>A (p.Pro230Thr) n.76C>A c.895C>A (p.Pro299Thr) c.1207C>A (p.Pro403Thr) n.1363C>A c.351C>A c.1111C>A (p.Pro371Thr) c.718C>A (p.Pro240Thr) c.1168C>A (p.Pro390Thr) | gnomAD v4 |
| 20 | g.63424188C>A | CA409649195 | KCNQ2 | c.1236G>T (p.Glu412Asp) c.687G>T (p.Glu229Asp) n.75G>T c.894G>T (p.Glu298Asp) c.1206G>T (p.Glu402Asp) n.1362G>T c.350G>T c.1110G>T (p.Glu370Asp) c.717G>T (p.Glu239Asp) c.1167G>T (p.Glu389Asp) | |
| 20 | g.63424188C>G | CA409649196 | KCNQ2 | c.1236G>C (p.Glu412Asp) c.687G>C (p.Glu229Asp) n.75G>C c.894G>C (p.Glu298Asp) c.1206G>C (p.Glu402Asp) n.1362G>C c.350G>C c.1110G>C (p.Glu370Asp) c.717G>C (p.Glu239Asp) c.1167G>C (p.Glu389Asp) | |
| 20 | g.63424188C>T | CA511204375 | KCNQ2 | c.1236G>A (p.Glu412=) c.687G>A (p.Glu229=) n.75G>A c.894G>A (p.Glu298=) c.1206G>A (p.Glu402=) n.1362G>A c.350G>A c.1110G>A (p.Glu370=) c.717G>A (p.Glu239=) c.1167G>A (p.Glu389=) | gnomAD v4 |
| 20 | g.63424189T>A | CA409649197 | KCNQ2 | c.1235A>T (p.Glu412Val) c.686A>T (p.Glu229Val) n.74A>T c.893A>T (p.Glu298Val) c.1205A>T (p.Glu402Val) n.1361A>T c.349A>T c.1109A>T (p.Glu370Val) c.716A>T (p.Glu239Val) c.1166A>T (p.Glu389Val) | |
| 20 | g.63424189T>C | CA409649198 | KCNQ2 | c.1235A>G (p.Glu412Gly) c.686A>G (p.Glu229Gly) n.74A>G c.893A>G (p.Glu298Gly) c.1205A>G (p.Glu402Gly) n.1361A>G c.349A>G c.1109A>G (p.Glu370Gly) c.716A>G (p.Glu239Gly) c.1166A>G (p.Glu389Gly) | gnomAD v4 |
| 20 | g.63424189T>G | CA409649199 | KCNQ2 | c.1235A>C (p.Glu412Ala) c.686A>C (p.Glu229Ala) n.74A>C c.893A>C (p.Glu298Ala) c.1205A>C (p.Glu402Ala) n.1361A>C c.349A>C c.1109A>C (p.Glu370Ala) c.716A>C (p.Glu239Ala) c.1166A>C (p.Glu389Ala) | |
| 20 | g.63424190C>A | CA409649201 | KCNQ2 | c.1234G>T (p.Glu412Ter) c.685G>T (p.Glu229Ter) n.73G>T c.892G>T (p.Glu298Ter) c.1204G>T (p.Glu402Ter) n.1360G>T c.348G>T c.1108G>T (p.Glu370Ter) c.715G>T (p.Glu239Ter) c.1165G>T (p.Glu389Ter) | gnomAD v4 |
| 20 | g.63424190C>G | CA409649202 | KCNQ2 | c.1234G>C (p.Glu412Gln) c.685G>C (p.Glu229Gln) n.73G>C c.892G>C (p.Glu298Gln) c.1204G>C (p.Glu402Gln) n.1360G>C c.348G>C c.1108G>C (p.Glu370Gln) c.715G>C (p.Glu239Gln) c.1165G>C (p.Glu389Gln) |