UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 1 | g.77942125G>A | CA340881157 | NEXN | c.1576G>A (p.Glu526Lys) c.1384G>A (p.Glu462Lys) c.1275G>A n.415G>A n.1150G>A c.1534G>A (p.Glu512Lys) c.1354G>A (p.Glu452Lys) c.1342G>A (p.Glu448Lys) c.1159G>A (p.Glu387Lys) | gnomAD v4 |
| 1 | g.77942125G>C | CA340881156 | NEXN | c.1576G>C (p.Glu526Gln) c.1384G>C (p.Glu462Gln) c.1275G>C n.415G>C n.1150G>C c.1534G>C (p.Glu512Gln) c.1354G>C (p.Glu452Gln) c.1342G>C (p.Glu448Gln) c.1159G>C (p.Glu387Gln) | |
| 1 | g.77942125G>T | CA340881159 | NEXN | c.1576G>T (p.Glu526Ter) c.1384G>T (p.Glu462Ter) c.1275G>T n.415G>T n.1150G>T c.1534G>T (p.Glu512Ter) c.1354G>T (p.Glu452Ter) c.1342G>T (p.Glu448Ter) c.1159G>T (p.Glu387Ter) | |
| 1 | g.77942126A= | CA1177631163 | NEXN | c.1577A= (p.Glu526=) c.1385A= (p.Glu462=) c.1276A= n.416A= n.1151A= c.1535A= (p.Glu512=) c.1355A= (p.Glu452=) c.1343A= (p.Glu448=) c.1160A= (p.Glu387=) | |
| 1 | g.77942126A>C | CA340881165 | NEXN | c.1577A>C (p.Glu526Ala) c.1385A>C (p.Glu462Ala) c.1276A>C n.416A>C n.1151A>C c.1535A>C (p.Glu512Ala) c.1355A>C (p.Glu452Ala) c.1343A>C (p.Glu448Ala) c.1160A>C (p.Glu387Ala) | |
| 1 | g.77942126A>G | CA340881161 | NEXN | c.1577A>G (p.Glu526Gly) c.1385A>G (p.Glu462Gly) c.1276A>G n.416A>G n.1151A>G c.1535A>G (p.Glu512Gly) c.1355A>G (p.Glu452Gly) c.1343A>G (p.Glu448Gly) c.1160A>G (p.Glu387Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.77942126A>T | CA340881164 | NEXN | c.1577A>T (p.Glu526Val) c.1385A>T (p.Glu462Val) c.1276A>T n.416A>T n.1151A>T c.1535A>T (p.Glu512Val) c.1355A>T (p.Glu452Val) c.1343A>T (p.Glu448Val) c.1160A>T (p.Glu387Val) | |
| 1 | g.77942134_77942143del | CA2580063253 | NEXN | c.1585_1594del (p.Gln529LeufsTer?) c.1393_1402del (p.Gln465LeufsTer?) c.1284_1293del n.424_433del n.1159_1168del c.1543_1552del (p.Gln515LeufsTer?) c.1363_1372del (p.Gln455LeufsTer?) c.1351_1360del (p.Gln451LeufsTer?) c.1168_1177del (p.Gln390LeufsTer?) | ClinVar |
| 1 | g.77942127A= | CA1177631164 | NEXN | c.1578A= (p.Glu526=) c.1386A= (p.Glu462=) c.1277A= n.417A= n.1152A= c.1536A= (p.Glu512=) c.1356A= (p.Glu452=) c.1344A= (p.Glu448=) c.1161A= (p.Glu387=) | |
| 1 | g.77942127A>C | CA340881166 | NEXN | c.1578A>C (p.Glu526Asp) c.1386A>C (p.Glu462Asp) c.1277A>C n.417A>C n.1152A>C c.1536A>C (p.Glu512Asp) c.1356A>C (p.Glu452Asp) c.1344A>C (p.Glu448Asp) c.1161A>C (p.Glu387Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.77942127A>G | CA418573324 | NEXN | c.1578A>G (p.Glu526=) c.1386A>G (p.Glu462=) c.1277A>G n.417A>G n.1152A>G c.1536A>G (p.Glu512=) c.1356A>G (p.Glu452=) c.1344A>G (p.Glu448=) c.1161A>G (p.Glu387=) | gnomAD v4 |
| 1 | g.77942127A>T | CA340881167 | NEXN | c.1578A>T (p.Glu526Asp) c.1386A>T (p.Glu462Asp) c.1277A>T n.417A>T n.1152A>T c.1536A>T (p.Glu512Asp) c.1356A>T (p.Glu452Asp) c.1344A>T (p.Glu448Asp) c.1161A>T (p.Glu387Asp) | |
| 1 | g.77942128G>A | CA340881168 | NEXN | c.1579G>A (p.Glu527Lys) c.1387G>A (p.Glu463Lys) c.1278G>A n.418G>A n.1153G>A c.1537G>A (p.Glu513Lys) c.1357G>A (p.Glu453Lys) c.1345G>A (p.Glu449Lys) c.1162G>A (p.Glu388Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.77942128G>C | CA340881169 | NEXN | c.1579G>C (p.Glu527Gln) c.1387G>C (p.Glu463Gln) c.1278G>C n.418G>C n.1153G>C c.1537G>C (p.Glu513Gln) c.1357G>C (p.Glu453Gln) c.1345G>C (p.Glu449Gln) c.1162G>C (p.Glu388Gln) | gnomAD v4 |
| 1 | g.77942128G= | CA1177631165 | NEXN | c.1579G= (p.Glu527=) c.1387G= (p.Glu463=) c.1278G= n.418G= n.1153G= c.1537G= (p.Glu513=) c.1357G= (p.Glu453=) c.1345G= (p.Glu449=) c.1162G= (p.Glu388=) | |
| 1 | g.77942128G>T | CA340881171 | NEXN | c.1579G>T (p.Glu527Ter) c.1387G>T (p.Glu463Ter) c.1278G>T n.418G>T n.1153G>T c.1537G>T (p.Glu513Ter) c.1357G>T (p.Glu453Ter) c.1345G>T (p.Glu449Ter) c.1162G>T (p.Glu388Ter) | |
| 1 | g.77942129A>C | CA340881177 | NEXN | c.1580A>C (p.Glu527Ala) c.1388A>C (p.Glu463Ala) c.1279A>C n.419A>C n.1154A>C c.1538A>C (p.Glu513Ala) c.1358A>C (p.Glu453Ala) c.1346A>C (p.Glu449Ala) c.1163A>C (p.Glu388Ala) | gnomAD v4 |
| 1 | g.77942129A>G | CA340881178 | NEXN | c.1580A>G (p.Glu527Gly) c.1388A>G (p.Glu463Gly) c.1279A>G n.419A>G n.1154A>G c.1538A>G (p.Glu513Gly) c.1358A>G (p.Glu453Gly) c.1346A>G (p.Glu449Gly) c.1163A>G (p.Glu388Gly) | gnomAD v4 |
| 1 | g.77942129A>T | CA340881180 | NEXN | c.1580A>T (p.Glu527Val) c.1388A>T (p.Glu463Val) c.1279A>T n.419A>T n.1154A>T c.1538A>T (p.Glu513Val) c.1358A>T (p.Glu453Val) c.1346A>T (p.Glu449Val) c.1163A>T (p.Glu388Val) | |
| 1 | g.77942130A>C | CA340881183 | NEXN | c.1581A>C (p.Glu527Asp) c.1389A>C (p.Glu463Asp) c.1280A>C n.420A>C n.1155A>C c.1539A>C (p.Glu513Asp) c.1359A>C (p.Glu453Asp) c.1347A>C (p.Glu449Asp) c.1164A>C (p.Glu388Asp) | |
| 1 | g.77942130A>G | CA418573334 | NEXN | c.1581A>G (p.Glu527=) c.1389A>G (p.Glu463=) c.1280A>G n.420A>G n.1155A>G c.1539A>G (p.Glu513=) c.1359A>G (p.Glu453=) c.1347A>G (p.Glu449=) c.1164A>G (p.Glu388=) | |
| 1 | g.77942130A>T | CA340881185 | NEXN | c.1581A>T (p.Glu527Asp) c.1389A>T (p.Glu463Asp) c.1280A>T n.420A>T n.1155A>T c.1539A>T (p.Glu513Asp) c.1359A>T (p.Glu453Asp) c.1347A>T (p.Glu449Asp) c.1164A>T (p.Glu388Asp) | |
| 1 | g.77942131G>A | CA918926 | NEXN | c.1582G>A (p.Glu528Lys) c.1390G>A (p.Glu464Lys) c.1281G>A n.421G>A n.1156G>A c.1540G>A (p.Glu514Lys) c.1360G>A (p.Glu454Lys) c.1348G>A (p.Glu450Lys) c.1165G>A (p.Glu389Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |