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.186956219G>A | CA120102 | PLA2G4A | c.1454G>A (p.Arg485His) c.1274G>A (p.Arg425His) c.1343G>A (p.Arg448His) c.1475G>A (p.Arg492His) n.1477+38G>A c.1469G>A (p.Arg490His) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.186956219G>C | CA343952060 | PLA2G4A | c.1454G>C (p.Arg485Pro) c.1274G>C (p.Arg425Pro) c.1343G>C (p.Arg448Pro) c.1475G>C (p.Arg492Pro) n.1477+38G>C c.1469G>C (p.Arg490Pro) | |
| 1 | g.186956219G= | CA1141581289 | PLA2G4A | c.1454G= (p.Arg485=) c.1274G= (p.Arg425=) c.1343G= (p.Arg448=) c.1475G= (p.Arg492=) n.1477+38G= c.1469G= (p.Arg490=) | |
| 1 | g.186956219G>T | CA343952062 | PLA2G4A | c.1454G>T (p.Arg485Leu) c.1274G>T (p.Arg425Leu) c.1343G>T (p.Arg448Leu) c.1475G>T (p.Arg492Leu) n.1477+38G>T c.1469G>T (p.Arg490Leu) | |
| 1 | g.186956220T>A | CA422343222 | PLA2G4A | c.1455T>A (p.Arg485=) c.1275T>A (p.Arg425=) c.1344T>A (p.Arg448=) c.1476T>A (p.Arg492=) n.1477+39T>A c.1470T>A (p.Arg490=) | |
| 1 | g.186956220T>C | CA422343220 | PLA2G4A | c.1455T>C (p.Arg485=) c.1275T>C (p.Arg425=) c.1344T>C (p.Arg448=) c.1476T>C (p.Arg492=) n.1477+39T>C c.1470T>C (p.Arg490=) | |
| 1 | g.186956220T>G | CA422343221 | PLA2G4A | c.1455T>G (p.Arg485=) c.1275T>G (p.Arg425=) c.1344T>G (p.Arg448=) c.1476T>G (p.Arg492=) n.1477+39T>G c.1470T>G (p.Arg490=) | |
| 1 | g.186956221G>A | CA343952064 | PLA2G4A | c.1456G>A (p.Ala486Thr) c.1276G>A (p.Ala426Thr) c.1345G>A (p.Ala449Thr) c.1477G>A (p.Ala493Thr) n.1477+40G>A c.1471G>A (p.Ala491Thr) | |
| 1 | g.186956221G>C | CA343952065 | PLA2G4A | c.1456G>C (p.Ala486Pro) c.1276G>C (p.Ala426Pro) c.1345G>C (p.Ala449Pro) c.1477G>C (p.Ala493Pro) n.1477+40G>C c.1471G>C (p.Ala491Pro) | |
| 1 | g.186956221G>T | CA343952068 | PLA2G4A | c.1456G>T (p.Ala486Ser) c.1276G>T (p.Ala426Ser) c.1345G>T (p.Ala449Ser) c.1477G>T (p.Ala493Ser) n.1477+40G>T c.1471G>T (p.Ala491Ser) | |
| 1 | g.186956222C>A | CA343952069 | PLA2G4A | c.1457C>A (p.Ala486Asp) c.1277C>A (p.Ala426Asp) c.1346C>A (p.Ala449Asp) c.1478C>A (p.Ala493Asp) n.1477+41C>A c.1472C>A (p.Ala491Asp) | COSMIC |
| 1 | g.186956222C>G | CA343952070 | PLA2G4A | c.1457C>G (p.Ala486Gly) c.1277C>G (p.Ala426Gly) c.1346C>G (p.Ala449Gly) c.1478C>G (p.Ala493Gly) n.1477+41C>G c.1472C>G (p.Ala491Gly) | |
| 1 | g.186956222C>T | CA343952072 | PLA2G4A | c.1457C>T (p.Ala486Val) c.1277C>T (p.Ala426Val) c.1346C>T (p.Ala449Val) c.1478C>T (p.Ala493Val) n.1477+41C>T c.1472C>T (p.Ala491Val) | |
| 1 | g.186956223T>A | CA422343223 | PLA2G4A | c.1458T>A (p.Ala486=) c.1278T>A (p.Ala426=) c.1347T>A (p.Ala449=) c.1479T>A (p.Ala493=) n.1477+42T>A c.1473T>A (p.Ala491=) | |
| 1 | g.186956223T>C | CA422343224 | PLA2G4A | c.1458T>C (p.Ala486=) c.1278T>C (p.Ala426=) c.1347T>C (p.Ala449=) c.1479T>C (p.Ala493=) n.1477+42T>C c.1473T>C (p.Ala491=) | |
| 1 | g.186956223T>G | CA422343225 | PLA2G4A | c.1458T>G (p.Ala486=) c.1278T>G (p.Ala426=) c.1347T>G (p.Ala449=) c.1479T>G (p.Ala493=) n.1477+42T>G c.1473T>G (p.Ala491=) | |
| 1 | g.186956224G>A | CA343952075 | PLA2G4A | c.1459G>A (p.Gly487Arg) c.1279G>A (p.Gly427Arg) c.1348G>A (p.Gly450Arg) c.1480G>A (p.Gly494Arg) n.1477+43G>A c.1474G>A (p.Gly492Arg) | |
| 1 | g.186956224G>C | CA343952081 | PLA2G4A | c.1459G>C (p.Gly487Arg) c.1279G>C (p.Gly427Arg) c.1348G>C (p.Gly450Arg) c.1480G>C (p.Gly494Arg) n.1477+43G>C c.1474G>C (p.Gly492Arg) | |
| 1 | g.186956224G>T | CA343952078 | PLA2G4A | c.1459G>T (p.Gly487Trp) c.1279G>T (p.Gly427Trp) c.1348G>T (p.Gly450Trp) c.1480G>T (p.Gly494Trp) n.1477+43G>T c.1474G>T (p.Gly492Trp) | |
| 1 | g.186956225G>A | CA343952083 | PLA2G4A | c.1460G>A (p.Gly487Glu) c.1280G>A (p.Gly427Glu) c.1349G>A (p.Gly450Glu) c.1481G>A (p.Gly494Glu) n.1477+44G>A c.1475G>A (p.Gly492Glu) | |
| 1 | g.186956225G>C | CA343952091 | PLA2G4A | c.1460G>C (p.Gly487Ala) c.1280G>C (p.Gly427Ala) c.1349G>C (p.Gly450Ala) c.1481G>C (p.Gly494Ala) n.1477+44G>C c.1475G>C (p.Gly492Ala) | |
| 1 | g.186956225G>T | CA343952096 | PLA2G4A | c.1460G>T (p.Gly487Val) c.1280G>T (p.Gly427Val) c.1349G>T (p.Gly450Val) c.1481G>T (p.Gly494Val) n.1477+44G>T c.1475G>T (p.Gly492Val) | |
| 1 | g.186956226G>A | CA33556748 | PLA2G4A | c.1461G>A (p.Gly487=) c.1281G>A (p.Gly427=) c.1350G>A (p.Gly450=) c.1482G>A (p.Gly494=) n.1477+45G>A c.1476G>A (p.Gly492=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.186956226G>C | CA1300234 | PLA2G4A | c.1461G>C (p.Gly487=) c.1281G>C (p.Gly427=) c.1350G>C (p.Gly450=) c.1482G>C (p.Gly494=) n.1477+45G>C c.1476G>C (p.Gly492=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.186956226G= | CA1143537083 | PLA2G4A | c.1461G= (p.Gly487=) c.1281G= (p.Gly427=) c.1350G= (p.Gly450=) c.1482G= (p.Gly494=) n.1477+45G= c.1476G= (p.Gly492=) | |
| 1 | g.186956226G>T | CA422343226 | PLA2G4A | c.1461G>T (p.Gly487=) c.1281G>T (p.Gly427=) c.1350G>T (p.Gly450=) c.1482G>T (p.Gly494=) n.1477+45G>T c.1476G>T (p.Gly492=) | |
| 1 | g.186956227A>C | CA343952107 | PLA2G4A | c.1462A>C (p.Lys488Gln) c.1282A>C (p.Lys428Gln) c.1351A>C (p.Lys451Gln) c.1483A>C (p.Lys495Gln) n.1477+46A>C c.1477A>C (p.Lys493Gln) | |
| 1 | g.186956227A>G | CA343952105 | PLA2G4A | c.1462A>G (p.Lys488Glu) c.1282A>G (p.Lys428Glu) c.1351A>G (p.Lys451Glu) c.1483A>G (p.Lys495Glu) n.1477+46A>G c.1477A>G (p.Lys493Glu) | |
| 1 | g.186956227A>T | CA343952102 | PLA2G4A | c.1462A>T (p.Lys488Ter) c.1282A>T (p.Lys428Ter) c.1351A>T (p.Lys451Ter) c.1483A>T (p.Lys495Ter) n.1477+46A>T c.1477A>T (p.Lys493Ter) | |
| 1 | g.186956228A>C | CA343952111 | PLA2G4A | c.1463A>C (p.Lys488Thr) c.1283A>C (p.Lys428Thr) c.1352A>C (p.Lys451Thr) c.1484A>C (p.Lys495Thr) n.1477+47A>C c.1478A>C (p.Lys493Thr) | |
| 1 | g.186956228A>G | CA343952113 | PLA2G4A | c.1463A>G (p.Lys488Arg) c.1283A>G (p.Lys428Arg) c.1352A>G (p.Lys451Arg) c.1484A>G (p.Lys495Arg) n.1477+47A>G c.1478A>G (p.Lys493Arg) | |
| 1 | g.186956228A>T | CA343952116 | PLA2G4A | c.1463A>T (p.Lys488Met) c.1283A>T (p.Lys428Met) c.1352A>T (p.Lys451Met) c.1484A>T (p.Lys495Met) n.1477+47A>T c.1478A>T (p.Lys493Met) | |
| 1 | g.186956229G>A | CA1300235 | PLA2G4A | c.1464G>A (p.Lys488=) c.1284G>A (p.Lys428=) c.1353G>A (p.Lys451=) c.1485G>A (p.Lys495=) n.1477+48G>A c.1479G>A (p.Lys493=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.186956229G>C | CA343952126 | PLA2G4A | c.1464G>C (p.Lys488Asn) c.1284G>C (p.Lys428Asn) c.1353G>C (p.Lys451Asn) c.1485G>C (p.Lys495Asn) n.1477+48G>C c.1479G>C (p.Lys493Asn) | |
| 1 | g.186956229G= | CA1213368234 | PLA2G4A | c.1464G= (p.Lys488=) c.1284G= (p.Lys428=) c.1353G= (p.Lys451=) c.1485G= (p.Lys495=) n.1477+48G= c.1479G= (p.Lys493=) | |
| 1 | g.186956229G>T | CA343952130 | PLA2G4A | c.1464G>T (p.Lys488Asn) c.1284G>T (p.Lys428Asn) c.1353G>T (p.Lys451Asn) c.1485G>T (p.Lys495Asn) n.1477+48G>T c.1479G>T (p.Lys493Asn) | dbSNP gnomAD v4 |
| 1 | g.186956230G>A | CA343952131 | PLA2G4A | c.1465G>A (p.Val489Ile) c.1285G>A (p.Val429Ile) c.1354G>A (p.Val452Ile) c.1486G>A (p.Val496Ile) n.1477+49G>A c.1480G>A (p.Val494Ile) | |
| 1 | g.186956230G>C | CA343952133 | PLA2G4A | c.1465G>C (p.Val489Leu) c.1285G>C (p.Val429Leu) c.1354G>C (p.Val452Leu) c.1486G>C (p.Val496Leu) n.1477+49G>C c.1480G>C (p.Val494Leu) | gnomAD v4 |
| 1 | g.186956230G>T | CA343952132 | PLA2G4A | c.1465G>T (p.Val489Leu) c.1285G>T (p.Val429Leu) c.1354G>T (p.Val452Leu) c.1486G>T (p.Val496Leu) n.1477+49G>T c.1480G>T (p.Val494Leu) | |
| 1 | g.186956231T>A | CA343952134 | PLA2G4A | c.1466T>A (p.Val489Glu) c.1286T>A (p.Val429Glu) c.1355T>A (p.Val452Glu) c.1487T>A (p.Val496Glu) n.1477+50T>A c.1481T>A (p.Val494Glu) | gnomAD v4 |
| 1 | g.186956231T>C | CA33556757 | PLA2G4A | c.1466T>C (p.Val489Ala) c.1286T>C (p.Val429Ala) c.1355T>C (p.Val452Ala) c.1487T>C (p.Val496Ala) n.1477+50T>C c.1481T>C (p.Val494Ala) | dbSNP gnomAD v4 |
| 1 | g.186956231T>G | CA343952137 | PLA2G4A | c.1466T>G (p.Val489Gly) c.1286T>G (p.Val429Gly) c.1355T>G (p.Val452Gly) c.1487T>G (p.Val496Gly) n.1477+50T>G c.1481T>G (p.Val494Gly) | |
| 1 | g.186956231T= | CA1213368235 | PLA2G4A | c.1466T= (p.Val489=) c.1286T= (p.Val429=) c.1355T= (p.Val452=) c.1487T= (p.Val496=) n.1477+50T= c.1481T= (p.Val494=) | |
| 1 | g.186956232A= | CA1213368236 | PLA2G4A | c.1467A= (p.Val489=) c.1287A= (p.Val429=) c.1356A= (p.Val452=) c.1488A= (p.Val496=) n.1477+51A= c.1482A= (p.Val494=) | |
| 1 | g.186956232A>C | CA422343227 | PLA2G4A | c.1467A>C (p.Val489=) c.1287A>C (p.Val429=) c.1356A>C (p.Val452=) c.1488A>C (p.Val496=) n.1477+51A>C c.1482A>C (p.Val494=) | |
| 1 | g.186956232A>G | CA422343228 | PLA2G4A | c.1467A>G (p.Val489=) c.1287A>G (p.Val429=) c.1356A>G (p.Val452=) c.1488A>G (p.Val496=) n.1477+51A>G c.1482A>G (p.Val494=) | dbSNP gnomAD v4 |
| 1 | g.186956232A>T | CA422343229 | PLA2G4A | c.1467A>T (p.Val489=) c.1287A>T (p.Val429=) c.1356A>T (p.Val452=) c.1488A>T (p.Val496=) n.1477+51A>T c.1482A>T (p.Val494=) | |
| 1 | g.186956233C>A | CA343952139 | PLA2G4A | c.1468C>A (p.His490Asn) c.1288C>A (p.His430Asn) c.1357C>A (p.His453Asn) c.1489C>A (p.His497Asn) n.1477+52C>A c.1483C>A (p.His495Asn) | |
| 1 | g.186956233C>G | CA343952142 | PLA2G4A | c.1468C>G (p.His490Asp) c.1288C>G (p.His430Asp) c.1357C>G (p.His453Asp) c.1489C>G (p.His497Asp) n.1477+52C>G c.1483C>G (p.His495Asp) | |
| 1 | g.186956233C>T | CA343952148 | PLA2G4A | c.1468C>T (p.His490Tyr) c.1288C>T (p.His430Tyr) c.1357C>T (p.His453Tyr) c.1489C>T (p.His497Tyr) n.1477+52C>T c.1483C>T (p.His495Tyr) | gnomAD v4 |