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 |
|---|---|---|---|---|---|
| 1 | g.186956119G>A | CA343951237 | PLA2G4A | c.1354G>A (p.Ala452Thr) c.1174G>A (p.Ala392Thr) c.1243G>A (p.Ala415Thr) c.1375G>A (p.Ala459Thr) n.1415G>A c.1369G>A (p.Ala457Thr) | dbSNP |
| 1 | g.186956119G>C | CA343951239 | PLA2G4A | c.1354G>C (p.Ala452Pro) c.1174G>C (p.Ala392Pro) c.1243G>C (p.Ala415Pro) c.1375G>C (p.Ala459Pro) n.1415G>C c.1369G>C (p.Ala457Pro) | |
| 1 | g.186956119G= | CA1213368209 | PLA2G4A | c.1354G= (p.Ala452=) c.1174G= (p.Ala392=) c.1243G= (p.Ala415=) c.1375G= (p.Ala459=) n.1415G= c.1369G= (p.Ala457=) | |
| 1 | g.186956119G>T | CA343951244 | PLA2G4A | c.1354G>T (p.Ala452Ser) c.1174G>T (p.Ala392Ser) c.1243G>T (p.Ala415Ser) c.1375G>T (p.Ala459Ser) n.1415G>T c.1369G>T (p.Ala457Ser) | gnomAD v4 |
| 1 | g.186956120C>A | CA343951248 | PLA2G4A | c.1355C>A (p.Ala452Asp) c.1175C>A (p.Ala392Asp) c.1244C>A (p.Ala415Asp) c.1376C>A (p.Ala459Asp) n.1416C>A c.1370C>A (p.Ala457Asp) | |
| 1 | g.186956120C= | CA1213368210 | PLA2G4A | c.1355C= (p.Ala452=) c.1175C= (p.Ala392=) c.1244C= (p.Ala415=) c.1376C= (p.Ala459=) n.1416C= c.1370C= (p.Ala457=) | |
| 1 | g.186956120C>G | CA343951254 | PLA2G4A | c.1355C>G (p.Ala452Gly) c.1175C>G (p.Ala392Gly) c.1244C>G (p.Ala415Gly) c.1376C>G (p.Ala459Gly) n.1416C>G c.1370C>G (p.Ala457Gly) | |
| 1 | g.186956120C>T | CA1300213 | PLA2G4A | c.1355C>T (p.Ala452Val) c.1175C>T (p.Ala392Val) c.1244C>T (p.Ala415Val) c.1376C>T (p.Ala459Val) n.1416C>T c.1370C>T (p.Ala457Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.186956121T>A | CA422343093 | PLA2G4A | c.1356T>A (p.Ala452=) c.1176T>A (p.Ala392=) c.1245T>A (p.Ala415=) c.1377T>A (p.Ala459=) n.1417T>A c.1371T>A (p.Ala457=) | |
| 1 | g.186956121T>C | CA422343094 | PLA2G4A | c.1356T>C (p.Ala452=) c.1176T>C (p.Ala392=) c.1245T>C (p.Ala415=) c.1377T>C (p.Ala459=) n.1417T>C c.1371T>C (p.Ala457=) | |
| 1 | g.186956121T>G | CA422343095 | PLA2G4A | c.1356T>G (p.Ala452=) c.1176T>G (p.Ala392=) c.1245T>G (p.Ala415=) c.1377T>G (p.Ala459=) n.1417T>G c.1371T>G (p.Ala457=) | |
| 1 | g.186956122G>A | CA343951260 | PLA2G4A | c.1357G>A (p.Gly453Arg) c.1177G>A (p.Gly393Arg) c.1246G>A (p.Gly416Arg) c.1378G>A (p.Gly460Arg) n.1418G>A c.1372G>A (p.Gly458Arg) | |
| 1 | g.186956122G>C | CA343951263 | PLA2G4A | c.1357G>C (p.Gly453Arg) c.1177G>C (p.Gly393Arg) c.1246G>C (p.Gly416Arg) c.1378G>C (p.Gly460Arg) n.1418G>C c.1372G>C (p.Gly458Arg) | |
| 1 | g.186956122G>T | CA343951266 | PLA2G4A | c.1357G>T (p.Gly453Ter) c.1177G>T (p.Gly393Ter) c.1246G>T (p.Gly416Ter) c.1378G>T (p.Gly460Ter) n.1418G>T c.1372G>T (p.Gly458Ter) | |
| 1 | g.186956123G>A | CA343951268 | PLA2G4A | c.1358G>A (p.Gly453Glu) c.1178G>A (p.Gly393Glu) c.1247G>A (p.Gly416Glu) c.1379G>A (p.Gly460Glu) n.1419G>A c.1373G>A (p.Gly458Glu) | |
| 1 | g.186956123G>C | CA343951273 | PLA2G4A | c.1358G>C (p.Gly453Ala) c.1178G>C (p.Gly393Ala) c.1247G>C (p.Gly416Ala) c.1379G>C (p.Gly460Ala) n.1419G>C c.1373G>C (p.Gly458Ala) | |
| 1 | g.186956123G= | CA1213368211 | PLA2G4A | c.1358G= (p.Gly453=) c.1178G= (p.Gly393=) c.1247G= (p.Gly416=) c.1379G= (p.Gly460=) n.1419G= c.1373G= (p.Gly458=) | |
| 1 | g.186956123G>T | CA343951271 | PLA2G4A | c.1358G>T (p.Gly453Val) c.1178G>T (p.Gly393Val) c.1247G>T (p.Gly416Val) c.1379G>T (p.Gly460Val) n.1419G>T c.1373G>T (p.Gly458Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.186956124A>C | CA422343100 | PLA2G4A | c.1359A>C (p.Gly453=) c.1179A>C (p.Gly393=) c.1248A>C (p.Gly416=) c.1380A>C (p.Gly460=) n.1420A>C c.1374A>C (p.Gly458=) | gnomAD v4 |
| 1 | g.186956124A>G | CA422343103 | PLA2G4A | c.1359A>G (p.Gly453=) c.1179A>G (p.Gly393=) c.1248A>G (p.Gly416=) c.1380A>G (p.Gly460=) n.1420A>G c.1374A>G (p.Gly458=) | |
| 1 | g.186956124A>T | CA422343105 | PLA2G4A | c.1359A>T (p.Gly453=) c.1179A>T (p.Gly393=) c.1248A>T (p.Gly416=) c.1380A>T (p.Gly460=) n.1420A>T c.1374A>T (p.Gly458=) | |
| 1 | g.186956125A>C | CA343951276 | PLA2G4A | c.1360A>C (p.Ser454Arg) c.1180A>C (p.Ser394Arg) c.1249A>C (p.Ser417Arg) c.1381A>C (p.Ser461Arg) n.1421A>C c.1375A>C (p.Ser459Arg) | |
| 1 | g.186956125A>G | CA343951277 | PLA2G4A | c.1360A>G (p.Ser454Gly) c.1180A>G (p.Ser394Gly) c.1249A>G (p.Ser417Gly) c.1381A>G (p.Ser461Gly) n.1421A>G c.1375A>G (p.Ser459Gly) | |
| 1 | g.186956125A>T | CA343951281 | PLA2G4A | c.1360A>T (p.Ser454Cys) c.1180A>T (p.Ser394Cys) c.1249A>T (p.Ser417Cys) c.1381A>T (p.Ser461Cys) n.1421A>T c.1375A>T (p.Ser459Cys) | |
| 1 | g.186956126G>A | CA343951284 | PLA2G4A | c.1361G>A (p.Ser454Asn) c.1181G>A (p.Ser394Asn) c.1250G>A (p.Ser417Asn) c.1382G>A (p.Ser461Asn) n.1422G>A c.1376G>A (p.Ser459Asn) | dbSNP gnomAD v4 |
| 1 | g.186956126G>C | CA343951289 | PLA2G4A | c.1361G>C (p.Ser454Thr) c.1181G>C (p.Ser394Thr) c.1250G>C (p.Ser417Thr) c.1382G>C (p.Ser461Thr) n.1422G>C c.1376G>C (p.Ser459Thr) | |
| 1 | g.186956126G= | CA1213368212 | PLA2G4A | c.1361G= (p.Ser454=) c.1181G= (p.Ser394=) c.1250G= (p.Ser417=) c.1382G= (p.Ser461=) n.1422G= c.1376G= (p.Ser459=) | |
| 1 | g.186956126G>T | CA343951291 | PLA2G4A | c.1361G>T (p.Ser454Ile) c.1181G>T (p.Ser394Ile) c.1250G>T (p.Ser417Ile) c.1382G>T (p.Ser461Ile) n.1422G>T c.1376G>T (p.Ser459Ile) | |
| 1 | g.186956127T>A | CA343951295 | PLA2G4A | c.1362T>A (p.Ser454Arg) c.1182T>A (p.Ser394Arg) c.1251T>A (p.Ser417Arg) c.1383T>A (p.Ser461Arg) n.1423T>A c.1377T>A (p.Ser459Arg) | |
| 1 | g.186956127T>C | CA422343106 | PLA2G4A | c.1362T>C (p.Ser454=) c.1182T>C (p.Ser394=) c.1251T>C (p.Ser417=) c.1383T>C (p.Ser461=) n.1423T>C c.1377T>C (p.Ser459=) | |
| 1 | g.186956127T>G | CA343951298 | PLA2G4A | c.1362T>G (p.Ser454Arg) c.1182T>G (p.Ser394Arg) c.1251T>G (p.Ser417Arg) c.1383T>G (p.Ser461Arg) n.1423T>G c.1377T>G (p.Ser459Arg) | |
| 1 | g.186956128G>A | CA1300214 | PLA2G4A | c.1363G>A (p.Asp455Asn) c.1183G>A (p.Asp395Asn) c.1252G>A (p.Asp418Asn) c.1384G>A (p.Asp462Asn) n.1424G>A c.1378G>A (p.Asp460Asn) | dbSNP ExAC gnomAD v2 |
| 1 | g.186956128G>C | CA343951299 | PLA2G4A | c.1363G>C (p.Asp455His) c.1183G>C (p.Asp395His) c.1252G>C (p.Asp418His) c.1384G>C (p.Asp462His) n.1424G>C c.1378G>C (p.Asp460His) | |
| 1 | g.186956128G= | CA1213368213 | PLA2G4A | c.1363G= (p.Asp455=) c.1183G= (p.Asp395=) c.1252G= (p.Asp418=) c.1384G= (p.Asp462=) n.1424G= c.1378G= (p.Asp460=) | |
| 1 | g.186956128G>T | CA343951300 | PLA2G4A | c.1363G>T (p.Asp455Tyr) c.1183G>T (p.Asp395Tyr) c.1252G>T (p.Asp418Tyr) c.1384G>T (p.Asp462Tyr) n.1424G>T c.1378G>T (p.Asp460Tyr) | gnomAD v4 |
| 1 | g.186956129A= | CA1145307393 | PLA2G4A | c.1364A= (p.Asp455=) c.1184A= (p.Asp395=) c.1253A= (p.Asp418=) c.1385A= (p.Asp462=) n.1425A= c.1379A= (p.Asp460=) | |
| 1 | g.186956129A>C | CA343951302 | PLA2G4A | c.1364A>C (p.Asp455Ala) c.1184A>C (p.Asp395Ala) c.1253A>C (p.Asp418Ala) c.1385A>C (p.Asp462Ala) n.1425A>C c.1379A>C (p.Asp460Ala) | |
| 1 | g.186956129A>G | CA343951301 | PLA2G4A | c.1364A>G (p.Asp455Gly) c.1184A>G (p.Asp395Gly) c.1253A>G (p.Asp418Gly) c.1385A>G (p.Asp462Gly) n.1425A>G c.1379A>G (p.Asp460Gly) | COSMIC |
| 1 | g.186956129A>T | CA1300215 | PLA2G4A | c.1364A>T (p.Asp455Val) c.1184A>T (p.Asp395Val) c.1253A>T (p.Asp418Val) c.1385A>T (p.Asp462Val) n.1425A>T c.1379A>T (p.Asp460Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.186956130C>A | CA343951303 | PLA2G4A | c.1365C>A (p.Asp455Glu) c.1185C>A (p.Asp395Glu) c.1254C>A (p.Asp418Glu) c.1386C>A (p.Asp462Glu) n.1426C>A c.1380C>A (p.Asp460Glu) | |
| 1 | g.186956130C>G | CA343951307 | PLA2G4A | c.1365C>G (p.Asp455Glu) c.1185C>G (p.Asp395Glu) c.1254C>G (p.Asp418Glu) c.1386C>G (p.Asp462Glu) n.1426C>G c.1380C>G (p.Asp460Glu) | |
| 1 | g.186956130C>T | CA422343111 | PLA2G4A | c.1365C>T (p.Asp455=) c.1185C>T (p.Asp395=) c.1254C>T (p.Asp418=) c.1386C>T (p.Asp462=) n.1426C>T c.1380C>T (p.Asp460=) | gnomAD v4 |
| 1 | g.186956131T>A | CA343951309 | PLA2G4A | c.1366T>A (p.Tyr456Asn) c.1186T>A (p.Tyr396Asn) c.1255T>A (p.Tyr419Asn) c.1387T>A (p.Tyr463Asn) n.1427T>A c.1381T>A (p.Tyr461Asn) | |
| 1 | g.186956131T>C | CA343951311 | PLA2G4A | c.1366T>C (p.Tyr456His) c.1186T>C (p.Tyr396His) c.1255T>C (p.Tyr419His) c.1387T>C (p.Tyr463His) n.1427T>C c.1381T>C (p.Tyr461His) | |
| 1 | g.186956131T>G | CA343951314 | PLA2G4A | c.1366T>G (p.Tyr456Asp) c.1186T>G (p.Tyr396Asp) c.1255T>G (p.Tyr419Asp) c.1387T>G (p.Tyr463Asp) n.1427T>G c.1381T>G (p.Tyr461Asp) | |
| 1 | g.186956132A= | CA1148473946 | PLA2G4A | c.1367A= (p.Tyr456=) c.1187A= (p.Tyr396=) c.1256A= (p.Tyr419=) c.1388A= (p.Tyr463=) n.1428A= c.1382A= (p.Tyr461=) | |
| 1 | g.186956132A>C | CA343951317 | PLA2G4A | c.1367A>C (p.Tyr456Ser) c.1187A>C (p.Tyr396Ser) c.1256A>C (p.Tyr419Ser) c.1388A>C (p.Tyr463Ser) n.1428A>C c.1382A>C (p.Tyr461Ser) | |
| 1 | g.186956132A>G | CA1300216 | PLA2G4A | c.1367A>G (p.Tyr456Cys) c.1187A>G (p.Tyr396Cys) c.1256A>G (p.Tyr419Cys) c.1388A>G (p.Tyr463Cys) n.1428A>G c.1382A>G (p.Tyr461Cys) | dbSNP ExAC gnomAD v2 |
| 1 | g.186956132A>T | CA343951322 | PLA2G4A | c.1367A>T (p.Tyr456Phe) c.1187A>T (p.Tyr396Phe) c.1256A>T (p.Tyr419Phe) c.1388A>T (p.Tyr463Phe) n.1428A>T c.1382A>T (p.Tyr461Phe) | |
| 1 | g.186956133T>A | CA343951325 | PLA2G4A | c.1368T>A (p.Tyr456Ter) c.1188T>A (p.Tyr396Ter) c.1257T>A (p.Tyr419Ter) c.1389T>A (p.Tyr463Ter) n.1429T>A c.1383T>A (p.Tyr461Ter) |