| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.77935972_77935980delinsAGAAGAAGA | CA1144228874 | NEXN | c.1401_1409delinsAGAAGAAGA (p.Ile467=) c.1209_1217delinsAGAAGAAGA (p.Ile403=) c.1100_1108delinsAGAAGAAGA n.975_983delinsAGAAGAAGA c.1359_1367delinsAGAAGAAGA (p.Ile453=) c.1251+2493_1251+2501delinsAGAAGAAGA (n.1251+2493_1251+2501delinsAGAAGAAGA) c.1167_1175delinsAGAAGAAGA (p.Ile389=) c.984_992delinsAGAAGAAGA (p.Ile328=) | |
| 1 | g.77935978_77935980dup | CA1177628324 | NEXN | c.1407_1409dup (p.Glu470_Arg471insGlu) c.1215_1217dup (p.Glu406_Arg407insGlu) c.1106_1108dup n.981_983dup c.1365_1367dup (p.Glu456_Arg457insGlu) c.1251+2499_1251+2501dup (n.1251+2499_1251+2501dup) c.1173_1175dup (p.Glu392_Arg393insGlu) c.990_992dup (p.Glu331_Arg332insGlu) | dbSNP |
| 1 | g.77935978_77935980del | CA142113 | NEXN | c.1407_1409del (p.Glu470del) c.1215_1217del (p.Glu406del) c.1106_1108del n.981_983del c.1365_1367del (p.Glu456del) c.1251+2499_1251+2501del (n.1251+2499_1251+2501del) c.1173_1175del (p.Glu392del) c.990_992del (p.Glu331del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77935978A>C | CA340879263 | NEXN | c.1407A>C (p.Glu469Asp) c.1215A>C (p.Glu405Asp) c.1106A>C n.981A>C c.1365A>C (p.Glu455Asp) c.1251+2499A>C (n.1251+2499A>C) c.1173A>C (p.Glu391Asp) c.990A>C (p.Glu330Asp) | ClinVar |
| 1 | g.77935978A>G | CA418709452 | NEXN | c.1407A>G (p.Glu469=) c.1215A>G (p.Glu405=) c.1106A>G n.981A>G c.1365A>G (p.Glu455=) c.1251+2499A>G (n.1251+2499A>G) c.1173A>G (p.Glu391=) c.990A>G (p.Glu330=) | gnomAD v4 |
| 1 | g.77935978A>T | CA340879264 | NEXN | c.1407A>T (p.Glu469Asp) c.1215A>T (p.Glu405Asp) c.1106A>T n.981A>T c.1365A>T (p.Glu455Asp) c.1251+2499A>T (n.1251+2499A>T) c.1173A>T (p.Glu391Asp) c.990A>T (p.Glu330Asp) | |
| 1 | g.77935978delinsGC | CA2580063267 | NEXN | c.1407delinsGC (p.Glu470ArgfsTer9) c.1215delinsGC (p.Glu406ArgfsTer9) c.1106delinsGC n.981delinsGC c.1365delinsGC (p.Glu456ArgfsTer9) c.1251+2499delinsGC (n.1251+2499delinsGC) c.1173delinsGC (p.Glu392ArgfsTer9) c.990delinsGC (p.Glu331ArgfsTer9) | ClinVar |
| 1 | g.77935979G>A | CA340879269 | NEXN | c.1408G>A (p.Glu470Lys) c.1216G>A (p.Glu406Lys) c.1107G>A n.982G>A c.1366G>A (p.Glu456Lys) c.1251+2500G>A (n.1251+2500G>A) c.1174G>A (p.Glu392Lys) c.991G>A (p.Glu331Lys) | dbSNP gnomAD v4 |
| 1 | g.77935979G>C | CA181124 | NEXN | c.1408G>C (p.Glu470Gln) c.1216G>C (p.Glu406Gln) c.1107G>C n.982G>C c.1366G>C (p.Glu456Gln) c.1251+2500G>C (n.1251+2500G>C) c.1174G>C (p.Glu392Gln) c.991G>C (p.Glu331Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77935979G= | CA1140567794 | NEXN | c.1408G= (p.Glu470=) c.1216G= (p.Glu406=) c.1107G= n.982G= c.1366G= (p.Glu456=) c.1251+2500G= (n.1251+2500G=) c.1174G= (p.Glu392=) c.991G= (p.Glu331=) | |
| 1 | g.77935979G>T | CA340879267 | NEXN | c.1408G>T (p.Glu470Ter) c.1216G>T (p.Glu406Ter) c.1107G>T n.982G>T c.1366G>T (p.Glu456Ter) c.1251+2500G>T (n.1251+2500G>T) c.1174G>T (p.Glu392Ter) c.991G>T (p.Glu331Ter) | gnomAD v4 |
| 1 | g.77935983_77935986del | CA2542462886 | NEXN | c.1412_1415del (p.Arg471GlnfsTer?) c.1220_1223del (p.Arg407GlnfsTer?) c.1111_1114del n.986_989del c.1370_1373del (p.Arg457GlnfsTer?) c.1251+2504_1251+2507del (n.1251+2504_1251+2507del) c.1178_1181del (p.Arg393GlnfsTer?) c.995_998del (p.Arg332GlnfsTer?) | gnomAD v4 |
| 1 | g.77935980A= | CA1177628328 | NEXN | c.1409A= (p.Glu470=) c.1217A= (p.Glu406=) c.1108A= n.983A= c.1367A= (p.Glu456=) c.1251+2501A= (n.1251+2501A=) c.1175A= (p.Glu392=) c.992A= (p.Glu331=) | |
| 1 | g.77935980A>C | CA918869 | NEXN | c.1409A>C (p.Glu470Ala) c.1217A>C (p.Glu406Ala) c.1108A>C n.983A>C c.1367A>C (p.Glu456Ala) c.1251+2501A>C (n.1251+2501A>C) c.1175A>C (p.Glu392Ala) c.992A>C (p.Glu331Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.77935980A>G | CA340879270 | NEXN | c.1409A>G (p.Glu470Gly) c.1217A>G (p.Glu406Gly) c.1108A>G n.983A>G c.1367A>G (p.Glu456Gly) c.1251+2501A>G (n.1251+2501A>G) c.1175A>G (p.Glu392Gly) c.992A>G (p.Glu331Gly) | |
| 1 | g.77935980A>T | CA340879271 | NEXN | c.1409A>T (p.Glu470Val) c.1217A>T (p.Glu406Val) c.1108A>T n.983A>T c.1367A>T (p.Glu456Val) c.1251+2501A>T (n.1251+2501A>T) c.1175A>T (p.Glu392Val) c.992A>T (p.Glu331Val) | |
| 1 | g.77935981G>A | CA418709457 | NEXN | c.1410G>A (p.Glu470=) c.1218G>A (p.Glu406=) c.1109G>A n.984G>A c.1368G>A (p.Glu456=) c.1251+2502G>A (n.1251+2502G>A) c.1176G>A (p.Glu392=) c.993G>A (p.Glu331=) | dbSNP |
| 1 | g.77935981G>C | CA340879272 | NEXN | c.1410G>C (p.Glu470Asp) c.1218G>C (p.Glu406Asp) c.1109G>C n.984G>C c.1368G>C (p.Glu456Asp) c.1251+2502G>C (n.1251+2502G>C) c.1176G>C (p.Glu392Asp) c.993G>C (p.Glu331Asp) | |
| 1 | g.77935981G>T | CA340879273 | NEXN | c.1410G>T (p.Glu470Asp) c.1218G>T (p.Glu406Asp) c.1109G>T n.984G>T c.1368G>T (p.Glu456Asp) c.1251+2502G>T (n.1251+2502G>T) c.1176G>T (p.Glu392Asp) c.993G>T (p.Glu331Asp) | |
| 1 | g.77935982C>A | CA418709460 | NEXN | c.1411C>A (p.Arg471=) c.1219C>A (p.Arg407=) c.1110C>A n.985C>A c.1369C>A (p.Arg457=) c.1251+2503C>A (n.1251+2503C>A) c.1177C>A (p.Arg393=) c.994C>A (p.Arg332=) | ClinVar gnomAD v4 |
| 1 | g.77935982C= | CA1177628329 | NEXN | c.1411C= (p.Arg471=) c.1219C= (p.Arg407=) c.1110C= n.985C= c.1369C= (p.Arg457=) c.1251+2503C= (n.1251+2503C=) c.1177C= (p.Arg393=) c.994C= (p.Arg332=) | |
| 1 | g.77935982C>G | CA340879274 | NEXN | c.1411C>G (p.Arg471Gly) c.1219C>G (p.Arg407Gly) c.1110C>G n.985C>G c.1369C>G (p.Arg457Gly) c.1251+2503C>G (n.1251+2503C>G) c.1177C>G (p.Arg393Gly) c.994C>G (p.Arg332Gly) | |
| 1 | g.77935982C>T | CA918870 | NEXN | c.1411C>T (p.Arg471Ter) c.1219C>T (p.Arg407Ter) c.1110C>T n.985C>T c.1369C>T (p.Arg457Ter) c.1251+2503C>T (n.1251+2503C>T) c.1177C>T (p.Arg393Ter) c.994C>T (p.Arg332Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77935983G>A | CA918871 | NEXN | c.1412G>A (p.Arg471Gln) c.1220G>A (p.Arg407Gln) c.1111G>A n.986G>A c.1370G>A (p.Arg457Gln) c.1251+2504G>A (n.1251+2504G>A) c.1178G>A (p.Arg393Gln) c.995G>A (p.Arg332Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.77935983G>C | CA340879277 | NEXN | c.1412G>C (p.Arg471Pro) c.1220G>C (p.Arg407Pro) c.1111G>C n.986G>C c.1370G>C (p.Arg457Pro) c.1251+2504G>C (n.1251+2504G>C) c.1178G>C (p.Arg393Pro) c.995G>C (p.Arg332Pro) | |
| 1 | g.77935983G= | CA1148411205 | NEXN | c.1412G= (p.Arg471=) c.1220G= (p.Arg407=) c.1111G= n.986G= c.1370G= (p.Arg457=) c.1251+2504G= (n.1251+2504G=) c.1178G= (p.Arg393=) c.995G= (p.Arg332=) | |
| 1 | g.77935983G>T | CA918872 | NEXN | c.1412G>T (p.Arg471Leu) c.1220G>T (p.Arg407Leu) c.1111G>T n.986G>T c.1370G>T (p.Arg457Leu) c.1251+2504G>T (n.1251+2504G>T) c.1178G>T (p.Arg393Leu) c.995G>T (p.Arg332Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.77935984A= | CA1177628330 | NEXN | c.1413A= (p.Arg471=) c.1221A= (p.Arg407=) c.1112A= n.987A= c.1371A= (p.Arg457=) c.1251+2505A= (n.1251+2505A=) c.1179A= (p.Arg393=) c.996A= (p.Arg332=) | |
| 1 | g.77935984A>C | CA418709463 | NEXN | c.1413A>C (p.Arg471=) c.1221A>C (p.Arg407=) c.1112A>C n.987A>C c.1371A>C (p.Arg457=) c.1251+2505A>C (n.1251+2505A>C) c.1179A>C (p.Arg393=) c.996A>C (p.Arg332=) | |
| 1 | g.77935984A>G | CA918873 | NEXN | c.1413A>G (p.Arg471=) c.1221A>G (p.Arg407=) c.1112A>G n.987A>G c.1371A>G (p.Arg457=) c.1251+2505A>G (n.1251+2505A>G) c.1179A>G (p.Arg393=) c.996A>G (p.Arg332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.77935984A>T | CA418709464 | NEXN | c.1413A>T (p.Arg471=) c.1221A>T (p.Arg407=) c.1112A>T n.987A>T c.1371A>T (p.Arg457=) c.1251+2505A>T (n.1251+2505A>T) c.1179A>T (p.Arg393=) c.996A>T (p.Arg332=) | |
| 1 | g.77935985G>A | CA24686664 | NEXN | c.1414G>A (p.Ala472Thr) c.1222G>A (p.Ala408Thr) c.1113G>A n.988G>A c.1372G>A (p.Ala458Thr) c.1251+2506G>A (n.1251+2506G>A) c.1180G>A (p.Ala394Thr) c.997G>A (p.Ala333Thr) | dbSNP |
| 1 | g.77935985G>C | CA340879287 | NEXN | c.1414G>C (p.Ala472Pro) c.1222G>C (p.Ala408Pro) c.1113G>C n.988G>C c.1372G>C (p.Ala458Pro) c.1251+2506G>C (n.1251+2506G>C) c.1180G>C (p.Ala394Pro) c.997G>C (p.Ala333Pro) | |
| 1 | g.77935985G= | CA1143959920 | NEXN | c.1414G= (p.Ala472=) c.1222G= (p.Ala408=) c.1113G= n.988G= c.1372G= (p.Ala458=) c.1251+2506G= (n.1251+2506G=) c.1180G= (p.Ala394=) c.997G= (p.Ala333=) | |
| 1 | g.77935985G>T | CA340879281 | NEXN | c.1414G>T (p.Ala472Ser) c.1222G>T (p.Ala408Ser) c.1113G>T n.988G>T c.1372G>T (p.Ala458Ser) c.1251+2506G>T (n.1251+2506G>T) c.1180G>T (p.Ala394Ser) c.997G>T (p.Ala333Ser) | |
| 1 | g.77935986C>A | CA340879290 | NEXN | c.1415C>A (p.Ala472Glu) c.1223C>A (p.Ala408Glu) c.1114C>A n.989C>A c.1373C>A (p.Ala458Glu) c.1251+2507C>A (n.1251+2507C>A) c.1181C>A (p.Ala394Glu) c.998C>A (p.Ala333Glu) | |
| 1 | g.77935986C= | CA1145181105 | NEXN | c.1415C= (p.Ala472=) c.1223C= (p.Ala408=) c.1114C= n.989C= c.1373C= (p.Ala458=) c.1251+2507C= (n.1251+2507C=) c.1181C= (p.Ala394=) c.998C= (p.Ala333=) | |
| 1 | g.77935986C>G | CA918874 | NEXN | c.1415C>G (p.Ala472Gly) c.1223C>G (p.Ala408Gly) c.1114C>G n.989C>G c.1373C>G (p.Ala458Gly) c.1251+2507C>G (n.1251+2507C>G) c.1181C>G (p.Ala394Gly) c.998C>G (p.Ala333Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77935986C>T | CA340879291 | NEXN | c.1415C>T (p.Ala472Val) c.1223C>T (p.Ala408Val) c.1114C>T n.989C>T c.1373C>T (p.Ala458Val) c.1251+2507C>T (n.1251+2507C>T) c.1181C>T (p.Ala394Val) c.998C>T (p.Ala333Val) | gnomAD v4 |
| 1 | g.77935986_77935989delinsCAAG | CA1177628331 | NEXN | c.1415_1418delinsCAAG (p.Ala472=) c.1223_1226delinsCAAG (p.Ala408=) c.1114_1117delinsCAAG n.989_992delinsCAAG c.1373_1376delinsCAAG (p.Ala458=) c.1251+2507_1251+2510delinsCAAG (n.1251+2507_1251+2510delinsCAAG) c.1181_1184delinsCAAG (p.Ala394=) c.998_1001delinsCAAG (p.Ala333=) | |
| 1 | g.77935987A>C | CA418709471 | NEXN | c.1416A>C (p.Ala472=) c.1224A>C (p.Ala408=) c.1115A>C n.990A>C c.1374A>C (p.Ala458=) c.1251+2508A>C (n.1251+2508A>C) c.1182A>C (p.Ala394=) c.999A>C (p.Ala333=) | |
| 1 | g.77935987A>G | CA418709468 | NEXN | c.1416A>G (p.Ala472=) c.1224A>G (p.Ala408=) c.1115A>G n.990A>G c.1374A>G (p.Ala458=) c.1251+2508A>G (n.1251+2508A>G) c.1182A>G (p.Ala394=) c.999A>G (p.Ala333=) | |
| 1 | g.77935987A>T | CA418709469 | NEXN | c.1416A>T (p.Ala472=) c.1224A>T (p.Ala408=) c.1115A>T n.990A>T c.1374A>T (p.Ala458=) c.1251+2508A>T (n.1251+2508A>T) c.1182A>T (p.Ala394=) c.999A>T (p.Ala333=) | |
| 1 | g.77935990_77935992del | CA335456 | NEXN | c.1419_1421del (p.Arg474del) c.1227_1229del (p.Arg410del) c.1118_1120del n.993_995del c.1377_1379del (p.Arg460del) c.1251+2511_1251+2513del (n.1251+2511_1251+2513del) c.1185_1187del (p.Arg396del) c.1002_1004del (p.Arg335del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77935988A= | CA1177628332 | NEXN | c.1417A= (p.Arg473=) c.1225A= (p.Arg409=) c.1116A= n.991A= c.1375A= (p.Arg459=) c.1251+2509A= (n.1251+2509A=) c.1183A= (p.Arg395=) c.1000A= (p.Arg334=) | |
| 1 | g.77935988A>C | CA418709472 | NEXN | c.1417A>C (p.Arg473=) c.1225A>C (p.Arg409=) c.1116A>C n.991A>C c.1375A>C (p.Arg459=) c.1251+2509A>C (n.1251+2509A>C) c.1183A>C (p.Arg395=) c.1000A>C (p.Arg334=) | |
| 1 | g.77935988A>G | CA340879297 | NEXN | c.1417A>G (p.Arg473Gly) c.1225A>G (p.Arg409Gly) c.1116A>G n.991A>G c.1375A>G (p.Arg459Gly) c.1251+2509A>G (n.1251+2509A>G) c.1183A>G (p.Arg395Gly) c.1000A>G (p.Arg334Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77935988A>T | CA340879298 | NEXN | c.1417A>T (p.Arg473Ter) c.1225A>T (p.Arg409Ter) c.1116A>T n.991A>T c.1375A>T (p.Arg459Ter) c.1251+2509A>T (n.1251+2509A>T) c.1183A>T (p.Arg395Ter) c.1000A>T (p.Arg334Ter) | |
| 1 | g.77935989G>A | CA340879301 | NEXN | c.1418G>A (p.Arg473Lys) c.1226G>A (p.Arg409Lys) c.1117G>A n.992G>A c.1376G>A (p.Arg459Lys) c.1251+2510G>A (n.1251+2510G>A) c.1184G>A (p.Arg395Lys) c.1001G>A (p.Arg334Lys) | |
| 1 | g.77935989G>C | CA340879302 | NEXN | c.1418G>C (p.Arg473Thr) c.1226G>C (p.Arg409Thr) c.1117G>C n.992G>C c.1376G>C (p.Arg459Thr) c.1251+2510G>C (n.1251+2510G>C) c.1184G>C (p.Arg395Thr) c.1001G>C (p.Arg334Thr) |