| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.77942102A= | CA1177631153 | NEXN | c.1553A= (p.Glu518=) c.1361A= (p.Glu454=) c.1252A= n.392A= n.1127A= c.1511A= (p.Glu504=) c.1331A= (p.Glu444=) c.1319A= (p.Glu440=) c.1136A= (p.Glu379=) | |
| 1 | g.77942102A>C | CA340881003 | NEXN | c.1553A>C (p.Glu518Ala) c.1361A>C (p.Glu454Ala) c.1252A>C n.392A>C n.1127A>C c.1511A>C (p.Glu504Ala) c.1331A>C (p.Glu444Ala) c.1319A>C (p.Glu440Ala) c.1136A>C (p.Glu379Ala) | |
| 1 | g.77942102A>G | CA340881004 | NEXN | c.1553A>G (p.Glu518Gly) c.1361A>G (p.Glu454Gly) c.1252A>G n.392A>G n.1127A>G c.1511A>G (p.Glu504Gly) c.1331A>G (p.Glu444Gly) c.1319A>G (p.Glu440Gly) c.1136A>G (p.Glu379Gly) | |
| 1 | g.77942102A>T | CA918923 | NEXN | c.1553A>T (p.Glu518Val) c.1361A>T (p.Glu454Val) c.1252A>T n.392A>T n.1127A>T c.1511A>T (p.Glu504Val) c.1331A>T (p.Glu444Val) c.1319A>T (p.Glu440Val) c.1136A>T (p.Glu379Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.77942103A>C | CA340881005 | NEXN | c.1554A>C (p.Glu518Asp) c.1362A>C (p.Glu454Asp) c.1253A>C n.393A>C n.1128A>C c.1512A>C (p.Glu504Asp) c.1332A>C (p.Glu444Asp) c.1320A>C (p.Glu440Asp) c.1137A>C (p.Glu379Asp) | |
| 1 | g.77942103A>G | CA418573230 | NEXN | c.1554A>G (p.Glu518=) c.1362A>G (p.Glu454=) c.1253A>G n.393A>G n.1128A>G c.1512A>G (p.Glu504=) c.1332A>G (p.Glu444=) c.1320A>G (p.Glu440=) c.1137A>G (p.Glu379=) | |
| 1 | g.77942103A>T | CA340881007 | NEXN | c.1554A>T (p.Glu518Asp) c.1362A>T (p.Glu454Asp) c.1253A>T n.393A>T n.1128A>T c.1512A>T (p.Glu504Asp) c.1332A>T (p.Glu444Asp) c.1320A>T (p.Glu440Asp) c.1137A>T (p.Glu379Asp) | |
| 1 | g.77942104C>A | CA340881008 | NEXN | c.1555C>A (p.Gln519Lys) c.1363C>A (p.Gln455Lys) c.1254C>A n.394C>A n.1129C>A c.1513C>A (p.Gln505Lys) c.1333C>A (p.Gln445Lys) c.1321C>A (p.Gln441Lys) c.1138C>A (p.Gln380Lys) | |
| 1 | g.77942104C= | CA1177631154 | NEXN | c.1555C= (p.Gln519=) c.1363C= (p.Gln455=) c.1254C= n.394C= n.1129C= c.1513C= (p.Gln505=) c.1333C= (p.Gln445=) c.1321C= (p.Gln441=) c.1138C= (p.Gln380=) | |
| 1 | g.77942104C>G | CA340881012 | NEXN | c.1555C>G (p.Gln519Glu) c.1363C>G (p.Gln455Glu) c.1254C>G n.394C>G n.1129C>G c.1513C>G (p.Gln505Glu) c.1333C>G (p.Gln445Glu) c.1321C>G (p.Gln441Glu) c.1138C>G (p.Gln380Glu) | |
| 1 | g.77942104C>T | CA918924 | NEXN | c.1555C>T (p.Gln519Ter) c.1363C>T (p.Gln455Ter) c.1254C>T n.394C>T n.1129C>T c.1513C>T (p.Gln505Ter) c.1333C>T (p.Gln445Ter) c.1321C>T (p.Gln441Ter) c.1138C>T (p.Gln380Ter) | dbSNP ExAC |
| 1 | g.77942105A>C | CA340881020 | NEXN | c.1556A>C (p.Gln519Pro) c.1364A>C (p.Gln455Pro) c.1255A>C n.395A>C n.1130A>C c.1514A>C (p.Gln505Pro) c.1334A>C (p.Gln445Pro) c.1322A>C (p.Gln441Pro) c.1139A>C (p.Gln380Pro) | |
| 1 | g.77942105A>G | CA340881021 | NEXN | c.1556A>G (p.Gln519Arg) c.1364A>G (p.Gln455Arg) c.1255A>G n.395A>G n.1130A>G c.1514A>G (p.Gln505Arg) c.1334A>G (p.Gln445Arg) c.1322A>G (p.Gln441Arg) c.1139A>G (p.Gln380Arg) | |
| 1 | g.77942105A>T | CA340881023 | NEXN | c.1556A>T (p.Gln519Leu) c.1364A>T (p.Gln455Leu) c.1255A>T n.395A>T n.1130A>T c.1514A>T (p.Gln505Leu) c.1334A>T (p.Gln445Leu) c.1322A>T (p.Gln441Leu) c.1139A>T (p.Gln380Leu) | |
| 1 | g.77942106A>C | CA340881029 | NEXN | c.1557A>C (p.Gln519His) c.1365A>C (p.Gln455His) c.1256A>C n.396A>C n.1131A>C c.1515A>C (p.Gln505His) c.1335A>C (p.Gln445His) c.1323A>C (p.Gln441His) c.1140A>C (p.Gln380His) | |
| 1 | g.77942106A>G | CA418573240 | NEXN | c.1557A>G (p.Gln519=) c.1365A>G (p.Gln455=) c.1256A>G n.396A>G n.1131A>G c.1515A>G (p.Gln505=) c.1335A>G (p.Gln445=) c.1323A>G (p.Gln441=) c.1140A>G (p.Gln380=) | |
| 1 | g.77942106A>T | CA340881033 | NEXN | c.1557A>T (p.Gln519His) c.1365A>T (p.Gln455His) c.1256A>T n.396A>T n.1131A>T c.1515A>T (p.Gln505His) c.1335A>T (p.Gln445His) c.1323A>T (p.Gln441His) c.1140A>T (p.Gln380His) | |
| 1 | g.77942107A>C | CA340881035 | NEXN | c.1558A>C (p.Met520Leu) c.1366A>C (p.Met456Leu) c.1257A>C n.397A>C n.1132A>C c.1516A>C (p.Met506Leu) c.1336A>C (p.Met446Leu) c.1324A>C (p.Met442Leu) c.1141A>C (p.Met381Leu) | gnomAD v4 |
| 1 | g.77942107A>G | CA340881037 | NEXN | c.1558A>G (p.Met520Val) c.1366A>G (p.Met456Val) c.1257A>G n.397A>G n.1132A>G c.1516A>G (p.Met506Val) c.1336A>G (p.Met446Val) c.1324A>G (p.Met442Val) c.1141A>G (p.Met381Val) | gnomAD v4 |
| 1 | g.77942107A>T | CA340881038 | NEXN | c.1558A>T (p.Met520Leu) c.1366A>T (p.Met456Leu) c.1257A>T n.397A>T n.1132A>T c.1516A>T (p.Met506Leu) c.1336A>T (p.Met446Leu) c.1324A>T (p.Met442Leu) c.1141A>T (p.Met381Leu) | |
| 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) |