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.77942112T>A | CA418573259 | NEXN | c.1563T>A (p.Ala521=) c.1371T>A (p.Ala457=) c.1262T>A n.402T>A n.1137T>A c.1521T>A (p.Ala507=) c.1341T>A (p.Ala447=) c.1329T>A (p.Ala443=) c.1146T>A (p.Ala382=) | |
| 1 | g.77942112T>C | CA418573261 | NEXN | c.1563T>C (p.Ala521=) c.1371T>C (p.Ala457=) c.1262T>C n.402T>C n.1137T>C c.1521T>C (p.Ala507=) c.1341T>C (p.Ala447=) c.1329T>C (p.Ala443=) c.1146T>C (p.Ala382=) | |
| 1 | g.77942112T>G | CA418573263 | NEXN | c.1563T>G (p.Ala521=) c.1371T>G (p.Ala457=) c.1262T>G n.402T>G n.1137T>G c.1521T>G (p.Ala507=) c.1341T>G (p.Ala447=) c.1329T>G (p.Ala443=) c.1146T>G (p.Ala382=) | |
| 1 | g.77942113A= | CA1177631157 | NEXN | c.1564A= (p.Lys522=) c.1372A= (p.Lys458=) c.1263A= n.403A= n.1138A= c.1522A= (p.Lys508=) c.1342A= (p.Lys448=) c.1330A= (p.Lys444=) c.1147A= (p.Lys383=) | |
| 1 | g.77942113A>C | CA340881077 | NEXN | c.1564A>C (p.Lys522Gln) c.1372A>C (p.Lys458Gln) c.1263A>C n.403A>C n.1138A>C c.1522A>C (p.Lys508Gln) c.1342A>C (p.Lys448Gln) c.1330A>C (p.Lys444Gln) c.1147A>C (p.Lys383Gln) | |
| 1 | g.77942113A>G | CA340881076 | NEXN | c.1564A>G (p.Lys522Glu) c.1372A>G (p.Lys458Glu) c.1263A>G n.403A>G n.1138A>G c.1522A>G (p.Lys508Glu) c.1342A>G (p.Lys448Glu) c.1330A>G (p.Lys444Glu) c.1147A>G (p.Lys383Glu) | |
| 1 | g.77942113A>T | CA340881074 | NEXN | c.1564A>T (p.Lys522Ter) c.1372A>T (p.Lys458Ter) c.1263A>T n.403A>T n.1138A>T c.1522A>T (p.Lys508Ter) c.1342A>T (p.Lys448Ter) c.1330A>T (p.Lys444Ter) c.1147A>T (p.Lys383Ter) | |
| 1 | g.77942113_77942114insT | CA524231071 | NEXN | c.1564_1565insT (p.Lys522IlefsTer12) c.1372_1373insT (p.Lys458IlefsTer12) c.1263_1264insT n.403_404insT n.1138_1139insT c.1522_1523insT (p.Lys508IlefsTer12) c.1342_1343insT (p.Lys448IlefsTer12) c.1330_1331insT (p.Lys444IlefsTer12) c.1147_1148insT (p.Lys383IlefsTer12) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.77942114A= | CA1177631158 | NEXN | c.1565A= (p.Lys522=) c.1373A= (p.Lys458=) c.1264A= n.404A= n.1139A= c.1523A= (p.Lys508=) c.1343A= (p.Lys448=) c.1331A= (p.Lys444=) c.1148A= (p.Lys383=) | |
| 1 | g.77942114A>C | CA335421 | NEXN | c.1565A>C (p.Lys522Thr) c.1373A>C (p.Lys458Thr) c.1264A>C n.404A>C n.1139A>C c.1523A>C (p.Lys508Thr) c.1343A>C (p.Lys448Thr) c.1331A>C (p.Lys444Thr) c.1148A>C (p.Lys383Thr) | dbSNP gnomAD v4 |
| 1 | g.77942114A>G | CA340881090 | NEXN | c.1565A>G (p.Lys522Arg) c.1373A>G (p.Lys458Arg) c.1264A>G n.404A>G n.1139A>G c.1523A>G (p.Lys508Arg) c.1343A>G (p.Lys448Arg) c.1331A>G (p.Lys444Arg) c.1148A>G (p.Lys383Arg) | |
| 1 | g.77942114A>T | CA340881092 | NEXN | c.1565A>T (p.Lys522Met) c.1373A>T (p.Lys458Met) c.1264A>T n.404A>T n.1139A>T c.1523A>T (p.Lys508Met) c.1343A>T (p.Lys448Met) c.1331A>T (p.Lys444Met) c.1148A>T (p.Lys383Met) | |
| 1 | g.77942115G>A | CA418573272 | NEXN | c.1566G>A (p.Lys522=) c.1374G>A (p.Lys458=) c.1265G>A n.405G>A n.1140G>A c.1524G>A (p.Lys508=) c.1344G>A (p.Lys448=) c.1332G>A (p.Lys444=) c.1149G>A (p.Lys383=) | |
| 1 | g.77942115G>C | CA340881095 | NEXN | c.1566G>C (p.Lys522Asn) c.1374G>C (p.Lys458Asn) c.1265G>C n.405G>C n.1140G>C c.1524G>C (p.Lys508Asn) c.1344G>C (p.Lys448Asn) c.1332G>C (p.Lys444Asn) c.1149G>C (p.Lys383Asn) | |
| 1 | g.77942115G>T | CA340881098 | NEXN | c.1566G>T (p.Lys522Asn) c.1374G>T (p.Lys458Asn) c.1265G>T n.405G>T n.1140G>T c.1524G>T (p.Lys508Asn) c.1344G>T (p.Lys448Asn) c.1332G>T (p.Lys444Asn) c.1149G>T (p.Lys383Asn) | |
| 1 | g.77942116G>A | CA340881099 | NEXN | c.1567G>A (p.Ala523Thr) c.1375G>A (p.Ala459Thr) c.1266G>A n.406G>A n.1141G>A c.1525G>A (p.Ala509Thr) c.1345G>A (p.Ala449Thr) c.1333G>A (p.Ala445Thr) c.1150G>A (p.Ala384Thr) | |
| 1 | g.77942116G>C | CA340881100 | NEXN | c.1567G>C (p.Ala523Pro) c.1375G>C (p.Ala459Pro) c.1266G>C n.406G>C n.1141G>C c.1525G>C (p.Ala509Pro) c.1345G>C (p.Ala449Pro) c.1333G>C (p.Ala445Pro) c.1150G>C (p.Ala384Pro) | |
| 1 | g.77942116G= | CA1177631159 | NEXN | c.1567G= (p.Ala523=) c.1375G= (p.Ala459=) c.1266G= n.406G= n.1141G= c.1525G= (p.Ala509=) c.1345G= (p.Ala449=) c.1333G= (p.Ala445=) c.1150G= (p.Ala384=) | |
| 1 | g.77942116G>T | CA340881101 | NEXN | c.1567G>T (p.Ala523Ser) c.1375G>T (p.Ala459Ser) c.1266G>T n.406G>T n.1141G>T c.1525G>T (p.Ala509Ser) c.1345G>T (p.Ala449Ser) c.1333G>T (p.Ala445Ser) c.1150G>T (p.Ala384Ser) | dbSNP |
| 1 | g.77942117C>A | CA340881102 | NEXN | c.1568C>A (p.Ala523Glu) c.1376C>A (p.Ala459Glu) c.1267C>A n.407C>A n.1142C>A c.1526C>A (p.Ala509Glu) c.1346C>A (p.Ala449Glu) c.1334C>A (p.Ala445Glu) c.1151C>A (p.Ala384Glu) | |
| 1 | g.77942117C= | CA1177631160 | NEXN | c.1568C= (p.Ala523=) c.1376C= (p.Ala459=) c.1267C= n.407C= n.1142C= c.1526C= (p.Ala509=) c.1346C= (p.Ala449=) c.1334C= (p.Ala445=) c.1151C= (p.Ala384=) | |
| 1 | g.77942117C>G | CA340881103 | NEXN | c.1568C>G (p.Ala523Gly) c.1376C>G (p.Ala459Gly) c.1267C>G n.407C>G n.1142C>G c.1526C>G (p.Ala509Gly) c.1346C>G (p.Ala449Gly) c.1334C>G (p.Ala445Gly) c.1151C>G (p.Ala384Gly) | |
| 1 | g.77942117C>T | CA340881105 | NEXN | c.1568C>T (p.Ala523Val) c.1376C>T (p.Ala459Val) c.1267C>T n.407C>T n.1142C>T c.1526C>T (p.Ala509Val) c.1346C>T (p.Ala449Val) c.1334C>T (p.Ala445Val) c.1151C>T (p.Ala384Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.77942118A>C | CA418573282 | NEXN | c.1569A>C (p.Ala523=) c.1377A>C (p.Ala459=) c.1268A>C n.408A>C n.1143A>C c.1527A>C (p.Ala509=) c.1347A>C (p.Ala449=) c.1335A>C (p.Ala445=) c.1152A>C (p.Ala384=) | |
| 1 | g.77942118A>G | CA418573284 | NEXN | c.1569A>G (p.Ala523=) c.1377A>G (p.Ala459=) c.1268A>G n.408A>G n.1143A>G c.1527A>G (p.Ala509=) c.1347A>G (p.Ala449=) c.1335A>G (p.Ala445=) c.1152A>G (p.Ala384=) | |
| 1 | g.77942118A>T | CA418573285 | NEXN | c.1569A>T (p.Ala523=) c.1377A>T (p.Ala459=) c.1268A>T n.408A>T n.1143A>T c.1527A>T (p.Ala509=) c.1347A>T (p.Ala449=) c.1335A>T (p.Ala445=) c.1152A>T (p.Ala384=) | |
| 1 | g.77942119A>C | CA418573290 | NEXN | c.1570A>C (p.Arg524=) c.1378A>C (p.Arg460=) c.1269A>C n.409A>C n.1144A>C c.1528A>C (p.Arg510=) c.1348A>C (p.Arg450=) c.1336A>C (p.Arg446=) c.1153A>C (p.Arg385=) | |
| 1 | g.77942119A>G | CA340881106 | NEXN | c.1570A>G (p.Arg524Gly) c.1378A>G (p.Arg460Gly) c.1269A>G n.409A>G n.1144A>G c.1528A>G (p.Arg510Gly) c.1348A>G (p.Arg450Gly) c.1336A>G (p.Arg446Gly) c.1153A>G (p.Arg385Gly) | |
| 1 | g.77942119A>T | CA340881107 | NEXN | c.1570A>T (p.Arg524Ter) c.1378A>T (p.Arg460Ter) c.1269A>T n.409A>T n.1144A>T c.1528A>T (p.Arg510Ter) c.1348A>T (p.Arg450Ter) c.1336A>T (p.Arg446Ter) c.1153A>T (p.Arg385Ter) | |
| 1 | g.77942120G>A | CA340881113 | NEXN | c.1571G>A (p.Arg524Lys) c.1379G>A (p.Arg460Lys) c.1270G>A n.410G>A n.1145G>A c.1529G>A (p.Arg510Lys) c.1349G>A (p.Arg450Lys) c.1337G>A (p.Arg446Lys) c.1154G>A (p.Arg385Lys) | |
| 1 | g.77942120G>C | CA340881110 | NEXN | c.1571G>C (p.Arg524Thr) c.1379G>C (p.Arg460Thr) c.1270G>C n.410G>C n.1145G>C c.1529G>C (p.Arg510Thr) c.1349G>C (p.Arg450Thr) c.1337G>C (p.Arg446Thr) c.1154G>C (p.Arg385Thr) | |
| 1 | g.77942120G>T | CA340881111 | NEXN | c.1571G>T (p.Arg524Ile) c.1379G>T (p.Arg460Ile) c.1270G>T n.410G>T n.1145G>T c.1529G>T (p.Arg510Ile) c.1349G>T (p.Arg450Ile) c.1337G>T (p.Arg446Ile) c.1154G>T (p.Arg385Ile) | |
| 1 | g.77942120_77942122del | CA2646275140 | NEXN | c.1571_1573del (p.Arg524_Glu525delinsLys) c.1379_1381del (p.Arg460_Glu461delinsLys) c.1270_1272del n.410_412del n.1145_1147del c.1529_1531del (p.Arg510_Glu511delinsLys) c.1349_1351del (p.Arg450_Glu451delinsLys) c.1337_1339del (p.Arg446_Glu447delinsLys) c.1154_1156del (p.Arg385_Glu386delinsLys) | gnomAD v4 |
| 1 | g.77942120_77942126delinsGAGAAGA | CA1177631161 | NEXN | c.1571_1577delinsGAGAAGA (p.Arg524=) c.1379_1385delinsGAGAAGA (p.Arg460=) c.1270_1276delinsGAGAAGA n.410_416delinsGAGAAGA n.1145_1151delinsGAGAAGA c.1529_1535delinsGAGAAGA (p.Arg510=) c.1349_1355delinsGAGAAGA (p.Arg450=) c.1337_1343delinsGAGAAGA (p.Arg446=) c.1154_1160delinsGAGAAGA (p.Arg385=) | |
| 1 | g.77942121A>C | CA340881115 | NEXN | c.1572A>C (p.Arg524Ser) c.1380A>C (p.Arg460Ser) c.1271A>C n.411A>C n.1146A>C c.1530A>C (p.Arg510Ser) c.1350A>C (p.Arg450Ser) c.1338A>C (p.Arg446Ser) c.1155A>C (p.Arg385Ser) | |
| 1 | g.77942121A>G | CA418573297 | NEXN | c.1572A>G (p.Arg524=) c.1380A>G (p.Arg460=) c.1271A>G n.411A>G n.1146A>G c.1530A>G (p.Arg510=) c.1350A>G (p.Arg450=) c.1338A>G (p.Arg446=) c.1155A>G (p.Arg385=) | |
| 1 | g.77942121A>T | CA340881118 | NEXN | c.1572A>T (p.Arg524Ser) c.1380A>T (p.Arg460Ser) c.1271A>T n.411A>T n.1146A>T c.1530A>T (p.Arg510Ser) c.1350A>T (p.Arg450Ser) c.1338A>T (p.Arg446Ser) c.1155A>T (p.Arg385Ser) | |
| 1 | g.77942131_77942133dup | CA918925 | NEXN | c.1582_1584dup (p.Glu528_Gln529insGlu) c.1390_1392dup (p.Glu464_Gln465insGlu) c.1281_1283dup n.421_423dup n.1156_1158dup c.1540_1542dup (p.Glu514_Gln515insGlu) c.1360_1362dup (p.Glu454_Gln455insGlu) c.1348_1350dup (p.Glu450_Gln451insGlu) c.1165_1167dup (p.Glu389_Gln390insGlu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77942131_77942133del | CA239963 | NEXN | c.1582_1584del (p.Glu528del) c.1390_1392del (p.Glu464del) c.1281_1283del n.421_423del n.1156_1158del c.1540_1542del (p.Glu514del) c.1360_1362del (p.Glu454del) c.1348_1350del (p.Glu450del) c.1165_1167del (p.Glu389del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.77942128_77942133del | CA524231072 | NEXN | c.1579_1584del (p.Glu527_Glu528del) c.1387_1392del (p.Glu463_Glu464del) c.1278_1283del n.418_423del n.1153_1158del c.1537_1542del (p.Glu513_Glu514del) c.1357_1362del (p.Glu453_Glu454del) c.1345_1350del (p.Glu449_Glu450del) c.1162_1167del (p.Glu388_Glu389del) | dbSNP gnomAD v2 |
| 1 | g.77942122G>A | CA340881125 | NEXN | c.1573G>A (p.Glu525Lys) c.1381G>A (p.Glu461Lys) c.1272G>A n.412G>A n.1147G>A c.1531G>A (p.Glu511Lys) c.1351G>A (p.Glu451Lys) c.1339G>A (p.Glu447Lys) c.1156G>A (p.Glu386Lys) | gnomAD v4 |
| 1 | g.77942122G>C | CA340881132 | NEXN | c.1573G>C (p.Glu525Gln) c.1381G>C (p.Glu461Gln) c.1272G>C n.412G>C n.1147G>C c.1531G>C (p.Glu511Gln) c.1351G>C (p.Glu451Gln) c.1339G>C (p.Glu447Gln) c.1156G>C (p.Glu386Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.77942122G= | CA1177631162 | NEXN | c.1573G= (p.Glu525=) c.1381G= (p.Glu461=) c.1272G= n.412G= n.1147G= c.1531G= (p.Glu511=) c.1351G= (p.Glu451=) c.1339G= (p.Glu447=) c.1156G= (p.Glu386=) | |
| 1 | g.77942122G>T | CA340881135 | NEXN | c.1573G>T (p.Glu525Ter) c.1381G>T (p.Glu461Ter) c.1272G>T n.412G>T n.1147G>T c.1531G>T (p.Glu511Ter) c.1351G>T (p.Glu451Ter) c.1339G>T (p.Glu447Ter) c.1156G>T (p.Glu386Ter) | |
| 1 | g.77942123A>C | CA340881138 | NEXN | c.1574A>C (p.Glu525Ala) c.1382A>C (p.Glu461Ala) c.1273A>C n.413A>C n.1148A>C c.1532A>C (p.Glu511Ala) c.1352A>C (p.Glu451Ala) c.1340A>C (p.Glu447Ala) c.1157A>C (p.Glu386Ala) | |
| 1 | g.77942123A>G | CA340881139 | NEXN | c.1574A>G (p.Glu525Gly) c.1382A>G (p.Glu461Gly) c.1273A>G n.413A>G n.1148A>G c.1532A>G (p.Glu511Gly) c.1352A>G (p.Glu451Gly) c.1340A>G (p.Glu447Gly) c.1157A>G (p.Glu386Gly) | |
| 1 | g.77942123A>T | CA340881142 | NEXN | c.1574A>T (p.Glu525Val) c.1382A>T (p.Glu461Val) c.1273A>T n.413A>T n.1148A>T c.1532A>T (p.Glu511Val) c.1352A>T (p.Glu451Val) c.1340A>T (p.Glu447Val) c.1157A>T (p.Glu386Val) | |
| 1 | g.77942124A>C | CA340881148 | NEXN | c.1575A>C (p.Glu525Asp) c.1383A>C (p.Glu461Asp) c.1274A>C n.414A>C n.1149A>C c.1533A>C (p.Glu511Asp) c.1353A>C (p.Glu451Asp) c.1341A>C (p.Glu447Asp) c.1158A>C (p.Glu386Asp) | |
| 1 | g.77942124A>G | CA418573313 | NEXN | c.1575A>G (p.Glu525=) c.1383A>G (p.Glu461=) c.1274A>G n.414A>G n.1149A>G c.1533A>G (p.Glu511=) c.1353A>G (p.Glu451=) c.1341A>G (p.Glu447=) c.1158A>G (p.Glu386=) | gnomAD v4 |
| 1 | g.77942124A>T | CA340881146 | NEXN | c.1575A>T (p.Glu525Asp) c.1383A>T (p.Glu461Asp) c.1274A>T n.414A>T n.1149A>T c.1533A>T (p.Glu511Asp) c.1353A>T (p.Glu451Asp) c.1341A>T (p.Glu447Asp) c.1158A>T (p.Glu386Asp) | gnomAD v4 |