| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.77935878A>C | CA340878509 | NEXN | c.1307A>C (p.Lys436Thr) c.1115A>C (p.Lys372Thr) c.1006A>C c.1265A>C (p.Lys422Thr) n.767A>C n.881A>C c.1251+2399A>C (n.1251+2399A>C) c.1073A>C (p.Lys358Thr) c.890A>C (p.Lys297Thr) | |
| 1 | g.77935878A>G | CA340878512 | NEXN | c.1307A>G (p.Lys436Arg) c.1115A>G (p.Lys372Arg) c.1006A>G c.1265A>G (p.Lys422Arg) n.767A>G n.881A>G c.1251+2399A>G (n.1251+2399A>G) c.1073A>G (p.Lys358Arg) c.890A>G (p.Lys297Arg) | |
| 1 | g.77935878A>T | CA340878513 | NEXN | c.1307A>T (p.Lys436Ile) c.1115A>T (p.Lys372Ile) c.1006A>T c.1265A>T (p.Lys422Ile) n.767A>T n.881A>T c.1251+2399A>T (n.1251+2399A>T) c.1073A>T (p.Lys358Ile) c.890A>T (p.Lys297Ile) | gnomAD v4 |
| 1 | g.77935879A>C | CA340878515 | NEXN | c.1308A>C (p.Lys436Asn) c.1116A>C (p.Lys372Asn) c.1007A>C c.1266A>C (p.Lys422Asn) n.768A>C n.882A>C c.1251+2400A>C (n.1251+2400A>C) c.1074A>C (p.Lys358Asn) c.891A>C (p.Lys297Asn) | |
| 1 | g.77935879A>G | CA418709351 | NEXN | c.1308A>G (p.Lys436=) c.1116A>G (p.Lys372=) c.1007A>G c.1266A>G (p.Lys422=) n.768A>G n.882A>G c.1251+2400A>G (n.1251+2400A>G) c.1074A>G (p.Lys358=) c.891A>G (p.Lys297=) | |
| 1 | g.77935879A>T | CA340878514 | NEXN | c.1308A>T (p.Lys436Asn) c.1116A>T (p.Lys372Asn) c.1007A>T c.1266A>T (p.Lys422Asn) n.768A>T n.882A>T c.1251+2400A>T (n.1251+2400A>T) c.1074A>T (p.Lys358Asn) c.891A>T (p.Lys297Asn) | |
| 1 | g.77935880T>A | CA340878519 | NEXN | c.1309T>A (p.Leu437Ile) c.1117T>A (p.Leu373Ile) c.1008T>A c.1267T>A (p.Leu423Ile) n.769T>A n.883T>A c.1251+2401T>A (n.1251+2401T>A) c.1075T>A (p.Leu359Ile) c.892T>A (p.Leu298Ile) | |
| 1 | g.77935880T>C | CA418709352 | NEXN | c.1309T>C (p.Leu437=) c.1117T>C (p.Leu373=) c.1008T>C c.1267T>C (p.Leu423=) n.769T>C n.883T>C c.1251+2401T>C (n.1251+2401T>C) c.1075T>C (p.Leu359=) c.892T>C (p.Leu298=) | |
| 1 | g.77935880T>G | CA340878522 | NEXN | c.1309T>G (p.Leu437Val) c.1117T>G (p.Leu373Val) c.1008T>G c.1267T>G (p.Leu423Val) n.769T>G n.883T>G c.1251+2401T>G (n.1251+2401T>G) c.1075T>G (p.Leu359Val) c.892T>G (p.Leu298Val) | |
| 1 | g.77935881T>A | CA340878527 | NEXN | c.1310T>A (p.Leu437Ter) c.1118T>A (p.Leu373Ter) c.1009T>A c.1268T>A (p.Leu423Ter) n.770T>A n.884T>A c.1251+2402T>A (n.1251+2402T>A) c.1076T>A (p.Leu359Ter) c.893T>A (p.Leu298Ter) | |
| 1 | g.77935881T>C | CA340878531 | NEXN | c.1310T>C (p.Leu437Ser) c.1118T>C (p.Leu373Ser) c.1009T>C c.1268T>C (p.Leu423Ser) n.770T>C n.884T>C c.1251+2402T>C (n.1251+2402T>C) c.1076T>C (p.Leu359Ser) c.893T>C (p.Leu298Ser) | |
| 1 | g.77935881T>G | CA340878534 | NEXN | c.1310T>G (p.Leu437Ter) c.1118T>G (p.Leu373Ter) c.1009T>G c.1268T>G (p.Leu423Ter) n.770T>G n.884T>G c.1251+2402T>G (n.1251+2402T>G) c.1076T>G (p.Leu359Ter) c.893T>G (p.Leu298Ter) | |
| 1 | g.77935882A>C | CA340878538 | NEXN | c.1311A>C (p.Leu437Phe) c.1119A>C (p.Leu373Phe) c.1010A>C c.1269A>C (p.Leu423Phe) n.771A>C n.885A>C c.1251+2403A>C (n.1251+2403A>C) c.1077A>C (p.Leu359Phe) c.894A>C (p.Leu298Phe) | |
| 1 | g.77935882A>G | CA418709353 | NEXN | c.1311A>G (p.Leu437=) c.1119A>G (p.Leu373=) c.1010A>G c.1269A>G (p.Leu423=) n.771A>G n.885A>G c.1251+2403A>G (n.1251+2403A>G) c.1077A>G (p.Leu359=) c.894A>G (p.Leu298=) | |
| 1 | g.77935882A>T | CA340878543 | NEXN | c.1311A>T (p.Leu437Phe) c.1119A>T (p.Leu373Phe) c.1010A>T c.1269A>T (p.Leu423Phe) n.771A>T n.885A>T c.1251+2403A>T (n.1251+2403A>T) c.1077A>T (p.Leu359Phe) c.894A>T (p.Leu298Phe) | |
| 1 | g.77935883A>C | CA340878549 | NEXN | c.1312A>C (p.Lys438Gln) c.1120A>C (p.Lys374Gln) c.1011A>C c.1270A>C (p.Lys424Gln) n.772A>C n.886A>C c.1251+2404A>C (n.1251+2404A>C) c.1078A>C (p.Lys360Gln) c.895A>C (p.Lys299Gln) | |
| 1 | g.77935883A>G | CA340878560 | NEXN | c.1312A>G (p.Lys438Glu) c.1120A>G (p.Lys374Glu) c.1011A>G c.1270A>G (p.Lys424Glu) n.772A>G n.886A>G c.1251+2404A>G (n.1251+2404A>G) c.1078A>G (p.Lys360Glu) c.895A>G (p.Lys299Glu) | |
| 1 | g.77935883A>T | CA340878562 | NEXN | c.1312A>T (p.Lys438Ter) c.1120A>T (p.Lys374Ter) c.1011A>T c.1270A>T (p.Lys424Ter) n.772A>T n.886A>T c.1251+2404A>T (n.1251+2404A>T) c.1078A>T (p.Lys360Ter) c.895A>T (p.Lys299Ter) | |
| 1 | g.77935884A>C | CA340878575 | NEXN | c.1313A>C (p.Lys438Thr) c.1121A>C (p.Lys374Thr) c.1012A>C c.1271A>C (p.Lys424Thr) n.773A>C n.887A>C c.1251+2405A>C (n.1251+2405A>C) c.1079A>C (p.Lys360Thr) c.896A>C (p.Lys299Thr) | |
| 1 | g.77935884A>G | CA340878588 | NEXN | c.1313A>G (p.Lys438Arg) c.1121A>G (p.Lys374Arg) c.1012A>G c.1271A>G (p.Lys424Arg) n.773A>G n.887A>G c.1251+2405A>G (n.1251+2405A>G) c.1079A>G (p.Lys360Arg) c.896A>G (p.Lys299Arg) | gnomAD v4 |
| 1 | g.77935884A>T | CA340878590 | NEXN | c.1313A>T (p.Lys438Ile) c.1121A>T (p.Lys374Ile) c.1012A>T c.1271A>T (p.Lys424Ile) n.773A>T n.887A>T c.1251+2405A>T (n.1251+2405A>T) c.1079A>T (p.Lys360Ile) c.896A>T (p.Lys299Ile) | |
| 1 | g.77935885A>C | CA340878595 | NEXN | c.1314A>C (p.Lys438Asn) c.1122A>C (p.Lys374Asn) c.1013A>C c.1272A>C (p.Lys424Asn) n.774A>C n.888A>C c.1251+2406A>C (n.1251+2406A>C) c.1080A>C (p.Lys360Asn) c.897A>C (p.Lys299Asn) | |
| 1 | g.77935885A>G | CA418709355 | NEXN | c.1314A>G (p.Lys438=) c.1122A>G (p.Lys374=) c.1013A>G c.1272A>G (p.Lys424=) n.774A>G n.888A>G c.1251+2406A>G (n.1251+2406A>G) c.1080A>G (p.Lys360=) c.897A>G (p.Lys299=) | |
| 1 | g.77935885A>T | CA340878594 | NEXN | c.1314A>T (p.Lys438Asn) c.1122A>T (p.Lys374Asn) c.1013A>T c.1272A>T (p.Lys424Asn) n.774A>T n.888A>T c.1251+2406A>T (n.1251+2406A>T) c.1080A>T (p.Lys360Asn) c.897A>T (p.Lys299Asn) | |
| 1 | g.77935886A>C | CA418709356 | NEXN | c.1315A>C (p.Arg439=) c.1123A>C (p.Arg375=) c.1014A>C c.1273A>C (p.Arg425=) n.775A>C n.889A>C c.1251+2407A>C (n.1251+2407A>C) c.1081A>C (p.Arg361=) c.898A>C (p.Arg300=) | |
| 1 | g.77935886A>G | CA340878596 | NEXN | c.1315A>G (p.Arg439Gly) c.1123A>G (p.Arg375Gly) c.1014A>G c.1273A>G (p.Arg425Gly) n.775A>G n.889A>G c.1251+2407A>G (n.1251+2407A>G) c.1081A>G (p.Arg361Gly) c.898A>G (p.Arg300Gly) | |
| 1 | g.77935886A>T | CA340878597 | NEXN | c.1315A>T (p.Arg439Trp) c.1123A>T (p.Arg375Trp) c.1014A>T c.1273A>T (p.Arg425Trp) n.775A>T n.889A>T c.1251+2407A>T (n.1251+2407A>T) c.1081A>T (p.Arg361Trp) c.898A>T (p.Arg300Trp) | |
| 1 | g.77935887G>A | CA918859 | NEXN | c.1316G>A (p.Arg439Lys) c.1124G>A (p.Arg375Lys) c.1015G>A c.1274G>A (p.Arg425Lys) n.776G>A n.890G>A c.1251+2408G>A (n.1251+2408G>A) c.1082G>A (p.Arg361Lys) c.899G>A (p.Arg300Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77935887G>C | CA340878598 | NEXN | c.1316G>C (p.Arg439Thr) c.1124G>C (p.Arg375Thr) c.1015G>C c.1274G>C (p.Arg425Thr) n.776G>C n.890G>C c.1251+2408G>C (n.1251+2408G>C) c.1082G>C (p.Arg361Thr) c.899G>C (p.Arg300Thr) | |
| 1 | g.77935887G= | CA1143388511 | NEXN | c.1316G= (p.Arg439=) c.1124G= (p.Arg375=) c.1015G= c.1274G= (p.Arg425=) n.776G= n.890G= c.1251+2408G= (n.1251+2408G=) c.1082G= (p.Arg361=) c.899G= (p.Arg300=) | |
| 1 | g.77935887G>T | CA340878602 | NEXN | c.1316G>T (p.Arg439Met) c.1124G>T (p.Arg375Met) c.1015G>T c.1274G>T (p.Arg425Met) n.776G>T n.890G>T c.1251+2408G>T (n.1251+2408G>T) c.1082G>T (p.Arg361Met) c.899G>T (p.Arg300Met) | COSMIC COSMIC |
| 1 | g.77935888G>A | CA418709357 | NEXN | c.1317G>A (p.Arg439=) c.1125G>A (p.Arg375=) c.1016G>A c.1275G>A (p.Arg425=) n.777G>A n.891G>A c.1251+2409G>A (n.1251+2409G>A) c.1083G>A (p.Arg361=) c.900G>A (p.Arg300=) | gnomAD v4 |
| 1 | g.77935888G>C | CA340878606 | NEXN | c.1317G>C (p.Arg439Ser) c.1125G>C (p.Arg375Ser) c.1016G>C c.1275G>C (p.Arg425Ser) n.777G>C n.891G>C c.1251+2409G>C (n.1251+2409G>C) c.1083G>C (p.Arg361Ser) c.900G>C (p.Arg300Ser) | |
| 1 | g.77935888G>T | CA340878607 | NEXN | c.1317G>T (p.Arg439Ser) c.1125G>T (p.Arg375Ser) c.1016G>T c.1275G>T (p.Arg425Ser) n.777G>T n.891G>T c.1251+2409G>T (n.1251+2409G>T) c.1083G>T (p.Arg361Ser) c.900G>T (p.Arg300Ser) | |
| 1 | g.77935889_77935892dup | CA2646274714 | NEXN | c.1318_1321dup (p.Gly441GlufsTer7) c.1126_1129dup (p.Gly377GlufsTer7) c.1017_1020dup c.1276_1279dup (p.Gly427GlufsTer7) n.778_781dup n.892_895dup c.1251+2410_1251+2413dup (n.1251+2410_1251+2413dup) c.1084_1087dup (p.Gly363GlufsTer7) c.901_904dup (p.Gly302GlufsTer7) | gnomAD v4 |
| 1 | g.77935889A>C | CA340878610 | NEXN | c.1318A>C (p.Ser440Arg) c.1126A>C (p.Ser376Arg) c.1017A>C c.1276A>C (p.Ser426Arg) n.778A>C n.892A>C c.1251+2410A>C (n.1251+2410A>C) c.1084A>C (p.Ser362Arg) c.901A>C (p.Ser301Arg) | |
| 1 | g.77935889A>G | CA340878611 | NEXN | c.1318A>G (p.Ser440Gly) c.1126A>G (p.Ser376Gly) c.1017A>G c.1276A>G (p.Ser426Gly) n.778A>G n.892A>G c.1251+2410A>G (n.1251+2410A>G) c.1084A>G (p.Ser362Gly) c.901A>G (p.Ser301Gly) | |
| 1 | g.77935889A>T | CA340878616 | NEXN | c.1318A>T (p.Ser440Cys) c.1126A>T (p.Ser376Cys) c.1017A>T c.1276A>T (p.Ser426Cys) n.778A>T n.892A>T c.1251+2410A>T (n.1251+2410A>T) c.1084A>T (p.Ser362Cys) c.901A>T (p.Ser301Cys) | |
| 1 | g.77935890G>A | CA918860 | NEXN | c.1319G>A (p.Ser440Asn) c.1127G>A (p.Ser376Asn) c.1018G>A c.1277G>A (p.Ser426Asn) n.779G>A n.893G>A c.1251+2411G>A (n.1251+2411G>A) c.1085G>A (p.Ser362Asn) c.902G>A (p.Ser301Asn) | dbSNP ExAC |
| 1 | g.77935890G>C | CA340878624 | NEXN | c.1319G>C (p.Ser440Thr) c.1127G>C (p.Ser376Thr) c.1018G>C c.1277G>C (p.Ser426Thr) n.779G>C n.893G>C c.1251+2411G>C (n.1251+2411G>C) c.1085G>C (p.Ser362Thr) c.902G>C (p.Ser301Thr) | |
| 1 | g.77935890G= | CA1177628286 | NEXN | c.1319G= (p.Ser440=) c.1127G= (p.Ser376=) c.1018G= c.1277G= (p.Ser426=) n.779G= n.893G= c.1251+2411G= (n.1251+2411G=) c.1085G= (p.Ser362=) c.902G= (p.Ser301=) | |
| 1 | g.77935890G>T | CA340878628 | NEXN | c.1319G>T (p.Ser440Ile) c.1127G>T (p.Ser376Ile) c.1018G>T c.1277G>T (p.Ser426Ile) n.779G>T n.893G>T c.1251+2411G>T (n.1251+2411G>T) c.1085G>T (p.Ser362Ile) c.902G>T (p.Ser301Ile) | |
| 1 | g.77935891_77935892del | CA2580652575 | NEXN | c.1320_1321del (p.Ser440ArgfsTer6) c.1128_1129del (p.Ser376ArgfsTer6) c.1019_1020del c.1278_1279del (p.Ser426ArgfsTer6) n.780_781del n.894_895del c.1251+2412_1251+2413del (n.1251+2412_1251+2413del) c.1086_1087del (p.Ser362ArgfsTer6) c.903_904del (p.Ser301ArgfsTer6) | |
| 1 | g.77935891T>A | CA340878638 | NEXN | c.1320T>A (p.Ser440Arg) c.1128T>A (p.Ser376Arg) c.1019T>A c.1278T>A (p.Ser426Arg) n.780T>A n.894T>A c.1251+2412T>A (n.1251+2412T>A) c.1086T>A (p.Ser362Arg) c.903T>A (p.Ser301Arg) | |
| 1 | g.77935891T>C | CA918861 | NEXN | c.1320T>C (p.Ser440=) c.1128T>C (p.Ser376=) c.1019T>C c.1278T>C (p.Ser426=) n.780T>C n.894T>C c.1251+2412T>C (n.1251+2412T>C) c.1086T>C (p.Ser362=) c.903T>C (p.Ser301=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77935891T>G | CA340878637 | NEXN | c.1320T>G (p.Ser440Arg) c.1128T>G (p.Ser376Arg) c.1019T>G c.1278T>G (p.Ser426Arg) n.780T>G n.894T>G c.1251+2412T>G (n.1251+2412T>G) c.1086T>G (p.Ser362Arg) c.903T>G (p.Ser301Arg) | |
| 1 | g.77935891T= | CA1177628287 | NEXN | c.1320T= (p.Ser440=) c.1128T= (p.Ser376=) c.1019T= c.1278T= (p.Ser426=) n.780T= n.894T= c.1251+2412T= (n.1251+2412T=) c.1086T= (p.Ser362=) c.903T= (p.Ser301=) | |
| 1 | g.77935892G>A | CA340878639 | NEXN | c.1321G>A (p.Gly441Ser) c.1129G>A (p.Gly377Ser) c.1020G>A c.1279G>A (p.Gly427Ser) n.781G>A n.895G>A c.1251+2413G>A (n.1251+2413G>A) c.1087G>A (p.Gly363Ser) c.904G>A (p.Gly302Ser) | |
| 1 | g.77935892G>C | CA340878640 | NEXN | c.1321G>C (p.Gly441Arg) c.1129G>C (p.Gly377Arg) c.1020G>C c.1279G>C (p.Gly427Arg) n.781G>C n.895G>C c.1251+2413G>C (n.1251+2413G>C) c.1087G>C (p.Gly363Arg) c.904G>C (p.Gly302Arg) | |
| 1 | g.77935892G= | CA1177628288 | NEXN | c.1321G= (p.Gly441=) c.1129G= (p.Gly377=) c.1020G= c.1279G= (p.Gly427=) n.781G= n.895G= c.1251+2413G= (n.1251+2413G=) c.1087G= (p.Gly363=) c.904G= (p.Gly302=) |