Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.77942108T>A | CA340881041 | NEXN | c.1559T>A (p.Met520Lys) c.1367T>A (p.Met456Lys) c.1258T>A n.398T>A n.1133T>A c.1517T>A (p.Met506Lys) c.1337T>A (p.Met446Lys) c.1325T>A (p.Met442Lys) c.1142T>A (p.Met381Lys) | |
1 | g.77942108T>C | CA340881046 | NEXN | c.1559T>C (p.Met520Thr) c.1367T>C (p.Met456Thr) c.1258T>C n.398T>C n.1133T>C c.1517T>C (p.Met506Thr) c.1337T>C (p.Met446Thr) c.1325T>C (p.Met442Thr) c.1142T>C (p.Met381Thr) | dbSNP |
1 | g.77942108T>G | CA340881044 | NEXN | c.1559T>G (p.Met520Arg) c.1367T>G (p.Met456Arg) c.1258T>G n.398T>G n.1133T>G c.1517T>G (p.Met506Arg) c.1337T>G (p.Met446Arg) c.1325T>G (p.Met442Arg) c.1142T>G (p.Met381Arg) | |
1 | g.77942108T= | CA1177631155 | NEXN | c.1559T= (p.Met520=) c.1367T= (p.Met456=) c.1258T= n.398T= n.1133T= c.1517T= (p.Met506=) c.1337T= (p.Met446=) c.1325T= (p.Met442=) c.1142T= (p.Met381=) | |
1 | g.77942109G>A | CA340881049 | NEXN | c.1560G>A (p.Met520Ile) c.1368G>A (p.Met456Ile) c.1259G>A n.399G>A n.1134G>A c.1518G>A (p.Met506Ile) c.1338G>A (p.Met446Ile) c.1326G>A (p.Met442Ile) c.1143G>A (p.Met381Ile) | gnomAD v4 |
1 | g.77942109G>C | CA340881054 | NEXN | c.1560G>C (p.Met520Ile) c.1368G>C (p.Met456Ile) c.1259G>C n.399G>C n.1134G>C c.1518G>C (p.Met506Ile) c.1338G>C (p.Met446Ile) c.1326G>C (p.Met442Ile) c.1143G>C (p.Met381Ile) | |
1 | g.77942109G>T | CA340881055 | NEXN | c.1560G>T (p.Met520Ile) c.1368G>T (p.Met456Ile) c.1259G>T n.399G>T n.1134G>T c.1518G>T (p.Met506Ile) c.1338G>T (p.Met446Ile) c.1326G>T (p.Met442Ile) c.1143G>T (p.Met381Ile) | |
1 | g.77942110G>A | CA340881057 | NEXN | c.1561G>A (p.Ala521Thr) c.1369G>A (p.Ala457Thr) c.1260G>A n.400G>A n.1135G>A c.1519G>A (p.Ala507Thr) c.1339G>A (p.Ala447Thr) c.1327G>A (p.Ala443Thr) c.1144G>A (p.Ala382Thr) | dbSNP gnomAD v4 |
1 | g.77942110G>C | CA340881058 | NEXN | c.1561G>C (p.Ala521Pro) c.1369G>C (p.Ala457Pro) c.1260G>C n.400G>C n.1135G>C c.1519G>C (p.Ala507Pro) c.1339G>C (p.Ala447Pro) c.1327G>C (p.Ala443Pro) c.1144G>C (p.Ala382Pro) | |
1 | g.77942110G= | CA1177631156 | NEXN | c.1561G= (p.Ala521=) c.1369G= (p.Ala457=) c.1260G= n.400G= n.1135G= c.1519G= (p.Ala507=) c.1339G= (p.Ala447=) c.1327G= (p.Ala443=) c.1144G= (p.Ala382=) | |
1 | g.77942110G>T | CA340881064 | NEXN | c.1561G>T (p.Ala521Ser) c.1369G>T (p.Ala457Ser) c.1260G>T n.400G>T n.1135G>T c.1519G>T (p.Ala507Ser) c.1339G>T (p.Ala447Ser) c.1327G>T (p.Ala443Ser) c.1144G>T (p.Ala382Ser) | |
1 | g.77942111C>A | CA340881066 | NEXN | c.1562C>A (p.Ala521Asp) c.1370C>A (p.Ala457Asp) c.1261C>A n.401C>A n.1136C>A c.1520C>A (p.Ala507Asp) c.1340C>A (p.Ala447Asp) c.1328C>A (p.Ala443Asp) c.1145C>A (p.Ala382Asp) | gnomAD v4 |
1 | g.77942111C>G | CA340881067 | NEXN | c.1562C>G (p.Ala521Gly) c.1370C>G (p.Ala457Gly) c.1261C>G n.401C>G n.1136C>G c.1520C>G (p.Ala507Gly) c.1340C>G (p.Ala447Gly) c.1328C>G (p.Ala443Gly) c.1145C>G (p.Ala382Gly) | |
1 | g.77942111C>T | CA340881071 | NEXN | c.1562C>T (p.Ala521Val) c.1370C>T (p.Ala457Val) c.1261C>T n.401C>T n.1136C>T c.1520C>T (p.Ala507Val) c.1340C>T (p.Ala447Val) c.1328C>T (p.Ala443Val) c.1145C>T (p.Ala382Val) | |
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=) |