Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.77935875T>A | CA340878478 | NEXN | c.1304T>A (p.Ile435Asn) c.1112T>A (p.Ile371Asn) c.1003T>A c.1262T>A (p.Ile421Asn) n.764T>A n.878T>A c.1251+2396T>A (n.1251+2396T>A) c.1070T>A (p.Ile357Asn) c.887T>A (p.Ile296Asn) | |
1 | g.77935875T>C | CA340878480 | NEXN | c.1304T>C (p.Ile435Thr) c.1112T>C (p.Ile371Thr) c.1003T>C c.1262T>C (p.Ile421Thr) n.764T>C n.878T>C c.1251+2396T>C (n.1251+2396T>C) c.1070T>C (p.Ile357Thr) c.887T>C (p.Ile296Thr) | dbSNP |
1 | g.77935875T>G | CA340878483 | NEXN | c.1304T>G (p.Ile435Ser) c.1112T>G (p.Ile371Ser) c.1003T>G c.1262T>G (p.Ile421Ser) n.764T>G n.878T>G c.1251+2396T>G (n.1251+2396T>G) c.1070T>G (p.Ile357Ser) c.887T>G (p.Ile296Ser) | |
1 | g.77935875T= | CA1177628284 | NEXN | c.1304T= (p.Ile435=) c.1112T= (p.Ile371=) c.1003T= c.1262T= (p.Ile421=) n.764T= n.878T= c.1251+2396T= (n.1251+2396T=) c.1070T= (p.Ile357=) c.887T= (p.Ile296=) | |
1 | g.77935876C>A | CA418709349 | NEXN | c.1305C>A (p.Ile435=) c.1113C>A (p.Ile371=) c.1004C>A c.1263C>A (p.Ile421=) n.765C>A n.879C>A c.1251+2397C>A (n.1251+2397C>A) c.1071C>A (p.Ile357=) c.888C>A (p.Ile296=) | gnomAD v3 gnomAD v4 |
1 | g.77935876C= | CA1177628285 | NEXN | c.1305C= (p.Ile435=) c.1113C= (p.Ile371=) c.1004C= c.1263C= (p.Ile421=) n.765C= n.879C= c.1251+2397C= (n.1251+2397C=) c.1071C= (p.Ile357=) c.888C= (p.Ile296=) | |
1 | g.77935876C>G | CA340878486 | NEXN | c.1305C>G (p.Ile435Met) c.1113C>G (p.Ile371Met) c.1004C>G c.1263C>G (p.Ile421Met) n.765C>G n.879C>G c.1251+2397C>G (n.1251+2397C>G) c.1071C>G (p.Ile357Met) c.888C>G (p.Ile296Met) | gnomAD v4 COSMIC COSMIC |
1 | g.77935876C>T | CA418709350 | NEXN | c.1305C>T (p.Ile435=) c.1113C>T (p.Ile371=) c.1004C>T c.1263C>T (p.Ile421=) n.765C>T n.879C>T c.1251+2397C>T (n.1251+2397C>T) c.1071C>T (p.Ile357=) c.888C>T (p.Ile296=) | dbSNP gnomAD v4 |
1 | g.77935877A>C | CA340878489 | NEXN | c.1306A>C (p.Lys436Gln) c.1114A>C (p.Lys372Gln) c.1005A>C c.1264A>C (p.Lys422Gln) n.766A>C n.880A>C c.1251+2398A>C (n.1251+2398A>C) c.1072A>C (p.Lys358Gln) c.889A>C (p.Lys297Gln) | |
1 | g.77935877A>G | CA340878494 | NEXN | c.1306A>G (p.Lys436Glu) c.1114A>G (p.Lys372Glu) c.1005A>G c.1264A>G (p.Lys422Glu) n.766A>G n.880A>G c.1251+2398A>G (n.1251+2398A>G) c.1072A>G (p.Lys358Glu) c.889A>G (p.Lys297Glu) | |
1 | g.77935877A>T | CA340878498 | NEXN | c.1306A>T (p.Lys436Ter) c.1114A>T (p.Lys372Ter) c.1005A>T c.1264A>T (p.Lys422Ter) n.766A>T n.880A>T c.1251+2398A>T (n.1251+2398A>T) c.1072A>T (p.Lys358Ter) c.889A>T (p.Lys297Ter) | |
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.77935889dup | CA2744232141 | NEXN | c.1318dup (p.Ser440LysfsTer7) c.1126dup (p.Ser376LysfsTer7) c.1017dup c.1276dup (p.Ser426LysfsTer7) n.778dup n.892dup c.1251+2410dup (n.1251+2410dup) c.1084dup (p.Ser362LysfsTer7) c.901dup (p.Ser301LysfsTer7) | |
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=) | |
1 | g.77935892G>T | CA340878643 | NEXN | c.1321G>T (p.Gly441Cys) c.1129G>T (p.Gly377Cys) c.1020G>T c.1279G>T (p.Gly427Cys) n.781G>T n.895G>T c.1251+2413G>T (n.1251+2413G>T) c.1087G>T (p.Gly363Cys) c.904G>T (p.Gly302Cys) | ClinVar dbSNP |
1 | g.77935892_77935893del | CA2580652576 | NEXN | c.1321_1322del (p.Gly441LeufsTer5) c.1129_1130del (p.Gly377LeufsTer5) c.1020_1021del c.1279_1280del (p.Gly427LeufsTer5) n.781_782del n.895_896del c.1251+2413_1251+2414del (n.1251+2413_1251+2414del) c.1087_1088del (p.Gly363LeufsTer5) c.904_905del (p.Gly302LeufsTer5) | |
1 | g.77935893G>A | CA340878653 | NEXN | c.1322G>A (p.Gly441Asp) c.1130G>A (p.Gly377Asp) c.1021G>A c.1280G>A (p.Gly427Asp) n.782G>A n.896G>A c.1251+2414G>A (n.1251+2414G>A) c.1088G>A (p.Gly363Asp) c.905G>A (p.Gly302Asp) | ClinVar dbSNP |
1 | g.77935893G>C | CA340878658 | NEXN | c.1322G>C (p.Gly441Ala) c.1130G>C (p.Gly377Ala) c.1021G>C c.1280G>C (p.Gly427Ala) n.782G>C n.896G>C c.1251+2414G>C (n.1251+2414G>C) c.1088G>C (p.Gly363Ala) c.905G>C (p.Gly302Ala) | |
1 | g.77935893G>T | CA340878659 | NEXN | c.1322G>T (p.Gly441Val) c.1130G>T (p.Gly377Val) c.1021G>T c.1280G>T (p.Gly427Val) n.782G>T n.896G>T c.1251+2414G>T (n.1251+2414G>T) c.1088G>T (p.Gly363Val) c.905G>T (p.Gly302Val) | |
1 | g.77935894C>A | CA418709364 | NEXN | c.1323C>A (p.Gly441=) c.1131C>A (p.Gly377=) c.1022C>A c.1281C>A (p.Gly427=) n.783C>A n.897C>A c.1251+2415C>A (n.1251+2415C>A) c.1089C>A (p.Gly363=) c.906C>A (p.Gly302=) | |
1 | g.77935894C= | CA1177628289 | NEXN | c.1323C= (p.Gly441=) c.1131C= (p.Gly377=) c.1022C= c.1281C= (p.Gly427=) n.783C= n.897C= c.1251+2415C= (n.1251+2415C=) c.1089C= (p.Gly363=) c.906C= (p.Gly302=) | |
1 | g.77935894C>G | CA418709365 | NEXN | c.1323C>G (p.Gly441=) c.1131C>G (p.Gly377=) c.1022C>G c.1281C>G (p.Gly427=) n.783C>G n.897C>G c.1251+2415C>G (n.1251+2415C>G) c.1089C>G (p.Gly363=) c.906C>G (p.Gly302=) | |
1 | g.77935894C>T | CA418709366 | NEXN | c.1323C>T (p.Gly441=) c.1131C>T (p.Gly377=) c.1022C>T c.1281C>T (p.Gly427=) n.783C>T n.897C>T c.1251+2415C>T (n.1251+2415C>T) c.1089C>T (p.Gly363=) c.906C>T (p.Gly302=) | dbSNP |
1 | g.77935895T>A | CA340878662 | NEXN | c.1324T>A (p.Ser442Thr) c.1132T>A (p.Ser378Thr) c.1023T>A c.1282T>A (p.Ser428Thr) n.784T>A n.898T>A c.1251+2416T>A (n.1251+2416T>A) c.1090T>A (p.Ser364Thr) c.907T>A (p.Ser303Thr) | gnomAD v4 |
1 | g.77935895T>C | CA340878664 | NEXN | c.1324T>C (p.Ser442Pro) c.1132T>C (p.Ser378Pro) c.1023T>C c.1282T>C (p.Ser428Pro) n.784T>C n.898T>C c.1251+2416T>C (n.1251+2416T>C) c.1090T>C (p.Ser364Pro) c.907T>C (p.Ser303Pro) | |
1 | g.77935895T>G | CA340878672 | NEXN | c.1324T>G (p.Ser442Ala) c.1132T>G (p.Ser378Ala) c.1023T>G c.1282T>G (p.Ser428Ala) n.784T>G n.898T>G c.1251+2416T>G (n.1251+2416T>G) c.1090T>G (p.Ser364Ala) c.907T>G (p.Ser303Ala) | |
1 | g.77935896C>A | CA340878674 | NEXN | c.1325C>A (p.Ser442Tyr) c.1133C>A (p.Ser378Tyr) c.1024C>A c.1283C>A (p.Ser428Tyr) n.785C>A n.899C>A c.1251+2417C>A (n.1251+2417C>A) c.1091C>A (p.Ser364Tyr) c.908C>A (p.Ser303Tyr) | dbSNP |
1 | g.77935896C= | CA1177628290 | NEXN | c.1325C= (p.Ser442=) c.1133C= (p.Ser378=) c.1024C= c.1283C= (p.Ser428=) n.785C= n.899C= c.1251+2417C= (n.1251+2417C=) c.1091C= (p.Ser364=) c.908C= (p.Ser303=) | |
1 | g.77935896C>G | CA340878676 | NEXN | c.1325C>G (p.Ser442Cys) c.1133C>G (p.Ser378Cys) c.1024C>G c.1283C>G (p.Ser428Cys) n.785C>G n.899C>G c.1251+2417C>G (n.1251+2417C>G) c.1091C>G (p.Ser364Cys) c.908C>G (p.Ser303Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77935896C>T | CA340878685 | NEXN | c.1325C>T (p.Ser442Phe) c.1133C>T (p.Ser378Phe) c.1024C>T c.1283C>T (p.Ser428Phe) n.785C>T n.899C>T c.1251+2417C>T (n.1251+2417C>T) c.1091C>T (p.Ser364Phe) c.908C>T (p.Ser303Phe) | |
1 | g.77935897T>A | CA418709368 | NEXN | c.1326T>A (p.Ser442=) c.1134T>A (p.Ser378=) c.1025T>A c.1284T>A (p.Ser428=) n.786T>A n.900T>A c.1251+2418T>A (n.1251+2418T>A) c.1092T>A (p.Ser364=) c.909T>A (p.Ser303=) | dbSNP |
1 | g.77935897T>C | CA24686464 | NEXN | c.1326T>C (p.Ser442=) c.1134T>C (p.Ser378=) c.1025T>C c.1284T>C (p.Ser428=) n.786T>C n.900T>C c.1251+2418T>C (n.1251+2418T>C) c.1092T>C (p.Ser364=) c.909T>C (p.Ser303=) | dbSNP gnomAD v4 |
1 | g.77935897T>G | CA418709370 | NEXN | c.1326T>G (p.Ser442=) c.1134T>G (p.Ser378=) c.1025T>G c.1284T>G (p.Ser428=) n.786T>G n.900T>G c.1251+2418T>G (n.1251+2418T>G) c.1092T>G (p.Ser364=) c.909T>G (p.Ser303=) | |
1 | g.77935897T= | CA1177628291 | NEXN | c.1326T= (p.Ser442=) c.1134T= (p.Ser378=) c.1025T= c.1284T= (p.Ser428=) n.786T= n.900T= c.1251+2418T= (n.1251+2418T=) c.1092T= (p.Ser364=) c.909T= (p.Ser303=) | |
1 | g.77935898A>C | CA340878691 | NEXN | c.1327A>C (p.Ile443Leu) c.1135A>C (p.Ile379Leu) c.1026A>C c.1285A>C (p.Ile429Leu) n.787A>C n.901A>C c.1251+2419A>C (n.1251+2419A>C) c.1093A>C (p.Ile365Leu) c.910A>C (p.Ile304Leu) | |
1 | g.77935898A>G | CA340878696 | NEXN | c.1327A>G (p.Ile443Val) c.1135A>G (p.Ile379Val) c.1026A>G c.1285A>G (p.Ile429Val) n.787A>G n.901A>G c.1251+2419A>G (n.1251+2419A>G) c.1093A>G (p.Ile365Val) c.910A>G (p.Ile304Val) | gnomAD v4 |
1 | g.77935898A>T | CA340878694 | NEXN | c.1327A>T (p.Ile443Phe) c.1135A>T (p.Ile379Phe) c.1026A>T c.1285A>T (p.Ile429Phe) n.787A>T n.901A>T c.1251+2419A>T (n.1251+2419A>T) c.1093A>T (p.Ile365Phe) c.910A>T (p.Ile304Phe) | |
1 | g.77935899T>A | CA340878699 | NEXN | c.1328T>A (p.Ile443Asn) c.1136T>A (p.Ile379Asn) c.1027T>A c.1286T>A (p.Ile429Asn) n.788T>A n.902T>A c.1251+2420T>A (n.1251+2420T>A) c.1094T>A (p.Ile365Asn) c.911T>A (p.Ile304Asn) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.77935899T>C | CA340878708 | NEXN | c.1328T>C (p.Ile443Thr) c.1136T>C (p.Ile379Thr) c.1027T>C c.1286T>C (p.Ile429Thr) n.788T>C n.902T>C c.1251+2420T>C (n.1251+2420T>C) c.1094T>C (p.Ile365Thr) c.911T>C (p.Ile304Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.77935899T>G | CA340878704 | NEXN | c.1328T>G (p.Ile443Ser) c.1136T>G (p.Ile379Ser) c.1027T>G c.1286T>G (p.Ile429Ser) n.788T>G n.902T>G c.1251+2420T>G (n.1251+2420T>G) c.1094T>G (p.Ile365Ser) c.911T>G (p.Ile304Ser) | |
1 | g.77935899T= | CA1177628292 | NEXN | c.1328T= (p.Ile443=) c.1136T= (p.Ile379=) c.1027T= c.1286T= (p.Ile429=) n.788T= n.902T= c.1251+2420T= (n.1251+2420T=) c.1094T= (p.Ile365=) c.911T= (p.Ile304=) | |
1 | g.77935900T>A | CA418709376 | NEXN | c.1329T>A (p.Ile443=) c.1137T>A (p.Ile379=) c.1028T>A c.1287T>A (p.Ile429=) n.789T>A n.903T>A c.1251+2421T>A (n.1251+2421T>A) c.1095T>A (p.Ile365=) c.912T>A (p.Ile304=) | |
1 | g.77935900T>C | CA418709377 | NEXN | c.1329T>C (p.Ile443=) c.1137T>C (p.Ile379=) c.1028T>C c.1287T>C (p.Ile429=) n.789T>C n.903T>C c.1251+2421T>C (n.1251+2421T>C) c.1095T>C (p.Ile365=) c.912T>C (p.Ile304=) | |
1 | g.77935900T>G | CA340878712 | NEXN | c.1329T>G (p.Ile443Met) c.1137T>G (p.Ile379Met) c.1028T>G c.1287T>G (p.Ile429Met) n.789T>G n.903T>G c.1251+2421T>G (n.1251+2421T>G) c.1095T>G (p.Ile365Met) c.912T>G (p.Ile304Met) | |
1 | g.77935901C>A | CA340878721 | NEXN | c.1330C>A (p.Gln444Lys) c.1138C>A (p.Gln380Lys) c.1029C>A c.1288C>A (p.Gln430Lys) n.790C>A n.904C>A c.1251+2422C>A (n.1251+2422C>A) c.1096C>A (p.Gln366Lys) c.913C>A (p.Gln305Lys) | |
1 | g.77935901C>G | CA340878714 | NEXN | c.1330C>G (p.Gln444Glu) c.1138C>G (p.Gln380Glu) c.1029C>G c.1288C>G (p.Gln430Glu) n.790C>G n.904C>G c.1251+2422C>G (n.1251+2422C>G) c.1096C>G (p.Gln366Glu) c.913C>G (p.Gln305Glu) | |
1 | g.77935901C>T | CA340878718 | NEXN | c.1330C>T (p.Gln444Ter) c.1138C>T (p.Gln380Ter) c.1029C>T c.1288C>T (p.Gln430Ter) n.790C>T n.904C>T c.1251+2422C>T (n.1251+2422C>T) c.1096C>T (p.Gln366Ter) c.913C>T (p.Gln305Ter) | |
1 | g.77935902A>C | CA340878723 | NEXN | c.1331A>C (p.Gln444Pro) c.1139A>C (p.Gln380Pro) c.1030A>C c.1289A>C (p.Gln430Pro) n.791A>C n.905A>C c.1251+2423A>C (n.1251+2423A>C) c.1097A>C (p.Gln366Pro) c.914A>C (p.Gln305Pro) | |
1 | g.77935902A>G | CA340878734 | NEXN | c.1331A>G (p.Gln444Arg) c.1139A>G (p.Gln380Arg) c.1030A>G c.1289A>G (p.Gln430Arg) n.791A>G n.905A>G c.1251+2423A>G (n.1251+2423A>G) c.1097A>G (p.Gln366Arg) c.914A>G (p.Gln305Arg) | |
1 | g.77935902A>T | CA340878737 | NEXN | c.1331A>T (p.Gln444Leu) c.1139A>T (p.Gln380Leu) c.1030A>T c.1289A>T (p.Gln430Leu) n.791A>T n.905A>T c.1251+2423A>T (n.1251+2423A>T) c.1097A>T (p.Gln366Leu) c.914A>T (p.Gln305Leu) | |
1 | g.77935903A= | CA1177628293 | NEXN | c.1332A= (p.Gln444=) c.1140A= (p.Gln380=) c.1031A= c.1290A= (p.Gln430=) n.792A= n.906A= c.1251+2424A= (n.1251+2424A=) c.1098A= (p.Gln366=) c.915A= (p.Gln305=) | |
1 | g.77935903A>C | CA340878740 | NEXN | c.1332A>C (p.Gln444His) c.1140A>C (p.Gln380His) c.1031A>C c.1290A>C (p.Gln430His) n.792A>C n.906A>C c.1251+2424A>C (n.1251+2424A>C) c.1098A>C (p.Gln366His) c.915A>C (p.Gln305His) | |
1 | g.77935903A>G | CA418709382 | NEXN | c.1332A>G (p.Gln444=) c.1140A>G (p.Gln380=) c.1031A>G c.1290A>G (p.Gln430=) n.792A>G n.906A>G c.1251+2424A>G (n.1251+2424A>G) c.1098A>G (p.Gln366=) c.915A>G (p.Gln305=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77935903A>T | CA340878743 | NEXN | c.1332A>T (p.Gln444His) c.1140A>T (p.Gln380His) c.1031A>T c.1290A>T (p.Gln430His) n.792A>T n.906A>T c.1251+2424A>T (n.1251+2424A>T) c.1098A>T (p.Gln366His) c.915A>T (p.Gln305His) | |
1 | g.77935904G>A | CA340878751 | NEXN | c.1333G>A (p.Ala445Thr) c.1141G>A (p.Ala381Thr) c.1032G>A c.1291G>A (p.Ala431Thr) n.793G>A n.907G>A c.1251+2425G>A (n.1251+2425G>A) c.1099G>A (p.Ala367Thr) c.916G>A (p.Ala306Thr) | dbSNP |
1 | g.77935904G>C | CA340878752 | NEXN | c.1333G>C (p.Ala445Pro) c.1141G>C (p.Ala381Pro) c.1032G>C c.1291G>C (p.Ala431Pro) n.793G>C n.907G>C c.1251+2425G>C (n.1251+2425G>C) c.1099G>C (p.Ala367Pro) c.916G>C (p.Ala306Pro) | |
1 | g.77935904G= | CA1177628294 | NEXN | c.1333G= (p.Ala445=) c.1141G= (p.Ala381=) c.1032G= c.1291G= (p.Ala431=) n.793G= n.907G= c.1251+2425G= (n.1251+2425G=) c.1099G= (p.Ala367=) c.916G= (p.Ala306=) | |
1 | g.77935904G>T | CA340878754 | NEXN | c.1333G>T (p.Ala445Ser) c.1141G>T (p.Ala381Ser) c.1032G>T c.1291G>T (p.Ala431Ser) n.793G>T n.907G>T c.1251+2425G>T (n.1251+2425G>T) c.1099G>T (p.Ala367Ser) c.916G>T (p.Ala306Ser) | |
1 | g.77935905C>A | CA340878756 | NEXN | c.1334C>A (p.Ala445Asp) c.1142C>A (p.Ala381Asp) c.1033C>A c.1292C>A (p.Ala431Asp) n.794C>A n.908C>A c.1251+2426C>A (n.1251+2426C>A) c.1100C>A (p.Ala367Asp) c.917C>A (p.Ala306Asp) | |
1 | g.77935905C>G | CA340878758 | NEXN | c.1334C>G (p.Ala445Gly) c.1142C>G (p.Ala381Gly) c.1033C>G c.1292C>G (p.Ala431Gly) n.794C>G n.908C>G c.1251+2426C>G (n.1251+2426C>G) c.1100C>G (p.Ala367Gly) c.917C>G (p.Ala306Gly) | |
1 | g.77935905C>T | CA340878760 | NEXN | c.1334C>T (p.Ala445Val) c.1142C>T (p.Ala381Val) c.1033C>T c.1292C>T (p.Ala431Val) n.794C>T n.908C>T c.1251+2426C>T (n.1251+2426C>T) c.1100C>T (p.Ala367Val) c.917C>T (p.Ala306Val) | |
1 | g.77935906T>A | CA418709389 | NEXN | c.1335T>A (p.Ala445=) c.1143T>A (p.Ala381=) c.1034T>A c.1293T>A (p.Ala431=) n.795T>A n.909T>A c.1251+2427T>A (n.1251+2427T>A) c.1101T>A (p.Ala367=) c.918T>A (p.Ala306=) | |
1 | g.77935906T>C | CA418709386 | NEXN | c.1335T>C (p.Ala445=) c.1143T>C (p.Ala381=) c.1034T>C c.1293T>C (p.Ala431=) n.795T>C n.909T>C c.1251+2427T>C (n.1251+2427T>C) c.1101T>C (p.Ala367=) c.918T>C (p.Ala306=) | gnomAD v4 |
1 | g.77935906T>G | CA418709388 | NEXN | c.1335T>G (p.Ala445=) c.1143T>G (p.Ala381=) c.1034T>G c.1293T>G (p.Ala431=) n.795T>G n.909T>G c.1251+2427T>G (n.1251+2427T>G) c.1101T>G (p.Ala367=) c.918T>G (p.Ala306=) | |
1 | g.77935907A= | CA1177628295 | NEXN | c.1336A= (p.Lys446=) c.1144A= (p.Lys382=) c.1035A= c.1294A= (p.Lys432=) n.796A= n.910A= c.1251+2428A= (n.1251+2428A=) c.1102A= (p.Lys368=) c.919A= (p.Lys307=) | |
1 | g.77935907A>C | CA340878783 | NEXN | c.1336A>C (p.Lys446Gln) c.1144A>C (p.Lys382Gln) c.1035A>C c.1294A>C (p.Lys432Gln) n.796A>C n.910A>C c.1251+2428A>C (n.1251+2428A>C) c.1102A>C (p.Lys368Gln) c.919A>C (p.Lys307Gln) | |
1 | g.77935907A>G | CA340878764 | NEXN | c.1336A>G (p.Lys446Glu) c.1144A>G (p.Lys382Glu) c.1035A>G c.1294A>G (p.Lys432Glu) n.796A>G n.910A>G c.1251+2428A>G (n.1251+2428A>G) c.1102A>G (p.Lys368Glu) c.919A>G (p.Lys307Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.77935907A>T | CA340878781 | NEXN | c.1336A>T (p.Lys446Ter) c.1144A>T (p.Lys382Ter) c.1035A>T c.1294A>T (p.Lys432Ter) n.796A>T n.910A>T c.1251+2428A>T (n.1251+2428A>T) c.1102A>T (p.Lys368Ter) c.919A>T (p.Lys307Ter) | gnomAD v4 |
1 | g.77935908A= | CA1177628296 | NEXN | c.1337A= (p.Lys446=) c.1145A= (p.Lys382=) c.1036A= c.1295A= (p.Lys432=) n.797A= n.911A= c.1251+2429A= (n.1251+2429A=) c.1103A= (p.Lys368=) c.920A= (p.Lys307=) | |
1 | g.77935908A>C | CA340878786 | NEXN | c.1337A>C (p.Lys446Thr) c.1145A>C (p.Lys382Thr) c.1036A>C c.1295A>C (p.Lys432Thr) n.797A>C n.911A>C c.1251+2429A>C (n.1251+2429A>C) c.1103A>C (p.Lys368Thr) c.920A>C (p.Lys307Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.77935908A>G | CA340878787 | NEXN | c.1337A>G (p.Lys446Arg) c.1145A>G (p.Lys382Arg) c.1036A>G c.1295A>G (p.Lys432Arg) n.797A>G n.911A>G c.1251+2429A>G (n.1251+2429A>G) c.1103A>G (p.Lys368Arg) c.920A>G (p.Lys307Arg) | |
1 | g.77935908A>T | CA340878788 | NEXN | c.1337A>T (p.Lys446Ile) c.1145A>T (p.Lys382Ile) c.1036A>T c.1295A>T (p.Lys432Ile) n.797A>T n.911A>T c.1251+2429A>T (n.1251+2429A>T) c.1103A>T (p.Lys368Ile) c.920A>T (p.Lys307Ile) | |
1 | g.77935909A>C | CA340878789 | NEXN | c.1338A>C (p.Lys446Asn) c.1146A>C (p.Lys382Asn) c.1037A>C c.1296A>C (p.Lys432Asn) n.798A>C n.912A>C c.1251+2430A>C (n.1251+2430A>C) c.1104A>C (p.Lys368Asn) c.921A>C (p.Lys307Asn) | |
1 | g.77935909A>G | CA418709393 | NEXN | c.1338A>G (p.Lys446=) c.1146A>G (p.Lys382=) c.1037A>G c.1296A>G (p.Lys432=) n.798A>G n.912A>G c.1251+2430A>G (n.1251+2430A>G) c.1104A>G (p.Lys368=) c.921A>G (p.Lys307=) | |
1 | g.77935909A>T | CA340878790 | NEXN | c.1338A>T (p.Lys446Asn) c.1146A>T (p.Lys382Asn) c.1037A>T c.1296A>T (p.Lys432Asn) n.798A>T n.912A>T c.1251+2430A>T (n.1251+2430A>T) c.1104A>T (p.Lys368Asn) c.921A>T (p.Lys307Asn) | |
1 | g.77935910A>C | CA340878794 | NEXN | c.1339A>C (p.Asn447His) c.1147A>C (p.Asn383His) c.1038A>C c.1297A>C (p.Asn433His) n.799A>C n.913A>C c.1251+2431A>C (n.1251+2431A>C) c.1105A>C (p.Asn369His) c.922A>C (p.Asn308His) | |
1 | g.77935910A>G | CA340878796 | NEXN | c.1339A>G (p.Asn447Asp) c.1147A>G (p.Asn383Asp) c.1038A>G c.1297A>G (p.Asn433Asp) n.799A>G n.913A>G c.1251+2431A>G (n.1251+2431A>G) c.1105A>G (p.Asn369Asp) c.922A>G (p.Asn308Asp) | |
1 | g.77935910A>T | CA340878798 | NEXN | c.1339A>T (p.Asn447Tyr) c.1147A>T (p.Asn383Tyr) c.1038A>T c.1297A>T (p.Asn433Tyr) n.799A>T n.913A>T c.1251+2431A>T (n.1251+2431A>T) c.1105A>T (p.Asn369Tyr) c.922A>T (p.Asn308Tyr) | |
1 | g.77935911A>C | CA340878806 | NEXN | c.1340A>C (p.Asn447Thr) c.1148A>C (p.Asn383Thr) c.1039A>C c.1298A>C (p.Asn433Thr) n.800A>C n.914A>C c.1251+2432A>C (n.1251+2432A>C) c.1106A>C (p.Asn369Thr) c.923A>C (p.Asn308Thr) | gnomAD v4 |
1 | g.77935911A>G | CA340878809 | NEXN | c.1340A>G (p.Asn447Ser) c.1148A>G (p.Asn383Ser) c.1039A>G c.1298A>G (p.Asn433Ser) n.800A>G n.914A>G c.1251+2432A>G (n.1251+2432A>G) c.1106A>G (p.Asn369Ser) c.923A>G (p.Asn308Ser) | |
1 | g.77935911A>T | CA340878810 | NEXN | c.1340A>T (p.Asn447Ile) c.1148A>T (p.Asn383Ile) c.1039A>T c.1298A>T (p.Asn433Ile) n.800A>T n.914A>T c.1251+2432A>T (n.1251+2432A>T) c.1106A>T (p.Asn369Ile) c.923A>T (p.Asn308Ile) | |
1 | g.77935912C>A | CA340878814 | NEXN | c.1341C>A (p.Asn447Lys) c.1149C>A (p.Asn383Lys) c.1040C>A c.1299C>A (p.Asn433Lys) n.801C>A n.915C>A c.1251+2433C>A (n.1251+2433C>A) c.1107C>A (p.Asn369Lys) c.924C>A (p.Asn308Lys) | |
1 | g.77935912C= | CA1177628297 | NEXN | c.1341C= (p.Asn447=) c.1149C= (p.Asn383=) c.1040C= c.1299C= (p.Asn433=) n.801C= n.915C= c.1251+2433C= (n.1251+2433C=) c.1107C= (p.Asn369=) c.924C= (p.Asn308=) | |
1 | g.77935912C>G | CA340878815 | NEXN | c.1341C>G (p.Asn447Lys) c.1149C>G (p.Asn383Lys) c.1040C>G c.1299C>G (p.Asn433Lys) n.801C>G n.915C>G c.1251+2433C>G (n.1251+2433C>G) c.1107C>G (p.Asn369Lys) c.924C>G (p.Asn308Lys) | |
1 | g.77935912C>T | CA418709398 | NEXN | c.1341C>T (p.Asn447=) c.1149C>T (p.Asn383=) c.1040C>T c.1299C>T (p.Asn433=) n.801C>T n.915C>T c.1251+2433C>T (n.1251+2433C>T) c.1107C>T (p.Asn369=) c.924C>T (p.Asn308=) | dbSNP |
1 | g.77935913C>A | CA340878818 | NEXN | c.1342C>A (p.Leu448Ile) c.1150C>A (p.Leu384Ile) c.1041C>A c.1300C>A (p.Leu434Ile) n.802C>A n.916C>A c.1251+2434C>A (n.1251+2434C>A) c.1108C>A (p.Leu370Ile) c.925C>A (p.Leu309Ile) | |
1 | g.77935913C= | CA1177628298 | NEXN | c.1342C= (p.Leu448=) c.1150C= (p.Leu384=) c.1041C= c.1300C= (p.Leu434=) n.802C= n.916C= c.1251+2434C= (n.1251+2434C=) c.1108C= (p.Leu370=) c.925C= (p.Leu309=) | |
1 | g.77935913C>G | CA340878821 | NEXN | c.1342C>G (p.Leu448Val) c.1150C>G (p.Leu384Val) c.1041C>G c.1300C>G (p.Leu434Val) n.802C>G n.916C>G c.1251+2434C>G (n.1251+2434C>G) c.1108C>G (p.Leu370Val) c.925C>G (p.Leu309Val) | |
1 | g.77935913C>T | CA418709400 | NEXN | c.1342C>T (p.Leu448=) c.1150C>T (p.Leu384=) c.1041C>T c.1300C>T (p.Leu434=) n.802C>T n.916C>T c.1251+2434C>T (n.1251+2434C>T) c.1108C>T (p.Leu370=) c.925C>T (p.Leu309=) | ClinVar dbSNP |
1 | g.77935914T>A | CA340878822 | NEXN | c.1343T>A (p.Leu448Gln) c.1151T>A (p.Leu384Gln) c.1042T>A c.1301T>A (p.Leu434Gln) n.803T>A n.917T>A c.1251+2435T>A (n.1251+2435T>A) c.1109T>A (p.Leu370Gln) c.926T>A (p.Leu309Gln) | |
1 | g.77935914T>C | CA340878823 | NEXN | c.1343T>C (p.Leu448Pro) c.1151T>C (p.Leu384Pro) c.1042T>C c.1301T>C (p.Leu434Pro) n.803T>C n.917T>C c.1251+2435T>C (n.1251+2435T>C) c.1109T>C (p.Leu370Pro) c.926T>C (p.Leu309Pro) | |
1 | g.77935914T>G | CA340878825 | NEXN | c.1343T>G (p.Leu448Arg) c.1151T>G (p.Leu384Arg) c.1042T>G c.1301T>G (p.Leu434Arg) n.803T>G n.917T>G c.1251+2435T>G (n.1251+2435T>G) c.1109T>G (p.Leu370Arg) c.926T>G (p.Leu309Arg) | |
1 | g.77935914T= | CA1177628299 | NEXN | c.1343T= (p.Leu448=) c.1151T= (p.Leu384=) c.1042T= c.1301T= (p.Leu434=) n.803T= n.917T= c.1251+2435T= (n.1251+2435T=) c.1109T= (p.Leu370=) c.926T= (p.Leu309=) | |
1 | g.77935915A= | CA1177628300 | NEXN | c.1344A= (p.Leu448=) c.1152A= (p.Leu384=) c.1043A= c.1302A= (p.Leu434=) n.804A= n.918A= c.1251+2436A= (n.1251+2436A=) c.1110A= (p.Leu370=) c.927A= (p.Leu309=) | |
1 | g.77935915A>C | CA418709403 | NEXN | c.1344A>C (p.Leu448=) c.1152A>C (p.Leu384=) c.1043A>C c.1302A>C (p.Leu434=) n.804A>C n.918A>C c.1251+2436A>C (n.1251+2436A>C) c.1110A>C (p.Leu370=) c.927A>C (p.Leu309=) | |
1 | g.77935915A>G | CA418709404 | NEXN | c.1344A>G (p.Leu448=) c.1152A>G (p.Leu384=) c.1043A>G c.1302A>G (p.Leu434=) n.804A>G n.918A>G c.1251+2436A>G (n.1251+2436A>G) c.1110A>G (p.Leu370=) c.927A>G (p.Leu309=) | dbSNP |
1 | g.77935915A>T | CA418709405 | NEXN | c.1344A>T (p.Leu448=) c.1152A>T (p.Leu384=) c.1043A>T c.1302A>T (p.Leu434=) n.804A>T n.918A>T c.1251+2436A>T (n.1251+2436A>T) c.1110A>T (p.Leu370=) c.927A>T (p.Leu309=) | gnomAD v4 |
1 | g.77935919dup | CA658795479 | NEXN | c.1348dup (p.Ser450LysfsTer4) c.1156dup (p.Ser386LysfsTer4) c.1047dup n.808dup n.922dup c.1306dup (p.Ser436LysfsTer4) c.1251+2440dup (n.1251+2440dup) c.1114dup (p.Ser372LysfsTer4) c.931dup (p.Ser311LysfsTer4) | ClinVar dbSNP |
1 | g.77935916A>C | CA340878827 | NEXN | c.1345A>C (p.Lys449Gln) c.1153A>C (p.Lys385Gln) c.1044A>C c.1303A>C (p.Lys435Gln) n.805A>C n.919A>C c.1251+2437A>C (n.1251+2437A>C) c.1111A>C (p.Lys371Gln) c.928A>C (p.Lys310Gln) | |
1 | g.77935916A>G | CA340878831 | NEXN | c.1345A>G (p.Lys449Glu) c.1153A>G (p.Lys385Glu) c.1044A>G c.1303A>G (p.Lys435Glu) n.805A>G n.919A>G c.1251+2437A>G (n.1251+2437A>G) c.1111A>G (p.Lys371Glu) c.928A>G (p.Lys310Glu) | |
1 | g.77935916A>T | CA340878833 | NEXN | c.1345A>T (p.Lys449Ter) c.1153A>T (p.Lys385Ter) c.1044A>T c.1303A>T (p.Lys435Ter) n.805A>T n.919A>T c.1251+2437A>T (n.1251+2437A>T) c.1111A>T (p.Lys371Ter) c.928A>T (p.Lys310Ter) | |
1 | g.77935917A>C | CA340878838 | NEXN | c.1346A>C (p.Lys449Thr) c.1154A>C (p.Lys385Thr) c.1045A>C c.1304A>C (p.Lys435Thr) n.806A>C n.920A>C c.1251+2438A>C (n.1251+2438A>C) c.1112A>C (p.Lys371Thr) c.929A>C (p.Lys310Thr) | |
1 | g.77935917A>G | CA340878841 | NEXN | c.1346A>G (p.Lys449Arg) c.1154A>G (p.Lys385Arg) c.1045A>G c.1304A>G (p.Lys435Arg) n.806A>G n.920A>G c.1251+2438A>G (n.1251+2438A>G) c.1112A>G (p.Lys371Arg) c.929A>G (p.Lys310Arg) | |
1 | g.77935917A>T | CA340878843 | NEXN | c.1346A>T (p.Lys449Ile) c.1154A>T (p.Lys385Ile) c.1045A>T c.1304A>T (p.Lys435Ile) n.806A>T n.920A>T c.1251+2438A>T (n.1251+2438A>T) c.1112A>T (p.Lys371Ile) c.929A>T (p.Lys310Ile) | |
1 | g.77935917_77935921delinsAAAGC | CA1177628301 | NEXN | c.1346_1350delinsAAAGC (p.Lys449=) c.1154_1158delinsAAAGC (p.Lys385=) c.1045_1049delinsAAAGC n.806_810delinsAAAGC n.920_924delinsAAAGC c.1304_1308delinsAAAGC (p.Lys435=) c.1251+2438_1251+2442delinsAAAGC (n.1251+2438_1251+2442delinsAAAGC) c.1112_1116delinsAAAGC (p.Lys371=) c.929_933delinsAAAGC (p.Lys310=) | |
1 | g.77935918A>C | CA340878845 | NEXN | c.1347A>C (p.Lys449Asn) c.1155A>C (p.Lys385Asn) c.1046A>C c.1305A>C (p.Lys435Asn) n.807A>C n.921A>C c.1251+2439A>C (n.1251+2439A>C) c.1113A>C (p.Lys371Asn) c.930A>C (p.Lys310Asn) | |
1 | g.77935918A>G | CA418709407 | NEXN | c.1347A>G (p.Lys449=) c.1155A>G (p.Lys385=) c.1046A>G c.1305A>G (p.Lys435=) n.807A>G n.921A>G c.1251+2439A>G (n.1251+2439A>G) c.1113A>G (p.Lys371=) c.930A>G (p.Lys310=) | |
1 | g.77935918A>T | CA340878846 | NEXN | c.1347A>T (p.Lys449Asn) c.1155A>T (p.Lys385Asn) c.1046A>T c.1305A>T (p.Lys435Asn) n.807A>T n.921A>T c.1251+2439A>T (n.1251+2439A>T) c.1113A>T (p.Lys371Asn) c.930A>T (p.Lys310Asn) | |
1 | g.77935921_77935924del | CA918862 | NEXN | c.1350_1353del (p.Lys451LeufsTer16) c.1158_1161del (p.Lys387LeufsTer16) c.1049_1052del n.810_813del n.924_927del c.1308_1311del (p.Lys437LeufsTer16) c.1251+2442_1251+2445del (n.1251+2442_1251+2445del) c.1116_1119del (p.Lys373LeufsTer16) c.933_936del (p.Lys312LeufsTer16) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.77935919A= | CA1177628302 | NEXN | c.1348A= (p.Ser450=) c.1156A= (p.Ser386=) c.1047A= c.1306A= n.808A= n.922A= c.1306A= (p.Ser436=) c.1251+2440A= (n.1251+2440A=) c.1114A= (p.Ser372=) c.931A= (p.Ser311=) | |
1 | g.77935919A>C | CA340878858 | NEXN | c.1348A>C (p.Ser450Arg) c.1156A>C (p.Ser386Arg) c.1047A>C c.1306A>C n.808A>C n.922A>C c.1306A>C (p.Ser436Arg) c.1251+2440A>C (n.1251+2440A>C) c.1114A>C (p.Ser372Arg) c.931A>C (p.Ser311Arg) | |
1 | g.77935919A>G | CA340878859 | NEXN | c.1348A>G (p.Ser450Gly) c.1156A>G (p.Ser386Gly) c.1047A>G c.1306A>G n.808A>G n.922A>G c.1306A>G (p.Ser436Gly) c.1251+2440A>G (n.1251+2440A>G) c.1114A>G (p.Ser372Gly) c.931A>G (p.Ser311Gly) | dbSNP |
1 | g.77935919A>T | CA340878852 | NEXN | c.1348A>T (p.Ser450Cys) c.1156A>T (p.Ser386Cys) c.1047A>T c.1306A>T n.808A>T n.922A>T c.1306A>T (p.Ser436Cys) c.1251+2440A>T (n.1251+2440A>T) c.1114A>T (p.Ser372Cys) c.931A>T (p.Ser311Cys) | |
1 | g.77935920G>A | CA340878862 | NEXN | c.1349G>A (p.Ser450Asn) c.1157G>A (p.Ser386Asn) c.1048G>A n.809G>A n.923G>A c.1307G>A (p.Ser436Asn) c.1251+2441G>A (n.1251+2441G>A) c.1115G>A (p.Ser372Asn) c.932G>A (p.Ser311Asn) | |
1 | g.77935920G>C | CA340878864 | NEXN | c.1349G>C (p.Ser450Thr) c.1157G>C (p.Ser386Thr) c.1048G>C n.809G>C n.923G>C c.1307G>C (p.Ser436Thr) c.1251+2441G>C (n.1251+2441G>C) c.1115G>C (p.Ser372Thr) c.932G>C (p.Ser311Thr) | |
1 | g.77935920G>T | CA340878867 | NEXN | c.1349G>T (p.Ser450Ile) c.1157G>T (p.Ser386Ile) c.1048G>T n.809G>T n.923G>T c.1307G>T (p.Ser436Ile) c.1251+2441G>T (n.1251+2441G>T) c.1115G>T (p.Ser372Ile) c.932G>T (p.Ser311Ile) | |
1 | g.77935921C>A | CA340878870 | NEXN | c.1350C>A (p.Ser450Arg) c.1158C>A (p.Ser386Arg) c.1049C>A n.810C>A n.924C>A c.1308C>A (p.Ser436Arg) c.1251+2442C>A (n.1251+2442C>A) c.1116C>A (p.Ser372Arg) c.933C>A (p.Ser311Arg) | |
1 | g.77935921C>G | CA340878872 | NEXN | c.1350C>G (p.Ser450Arg) c.1158C>G (p.Ser386Arg) c.1049C>G n.810C>G n.924C>G c.1308C>G (p.Ser436Arg) c.1251+2442C>G (n.1251+2442C>G) c.1116C>G (p.Ser372Arg) c.933C>G (p.Ser311Arg) | |
1 | g.77935921C>T | CA418709411 | NEXN | c.1350C>T (p.Ser450=) c.1158C>T (p.Ser386=) c.1049C>T n.810C>T n.924C>T c.1308C>T (p.Ser436=) c.1251+2442C>T (n.1251+2442C>T) c.1116C>T (p.Ser372=) c.933C>T (p.Ser311=) | |
1 | g.77935922A>C | CA340878883 | NEXN | c.1351A>C (p.Lys451Gln) c.1159A>C (p.Lys387Gln) c.1050A>C n.811A>C n.925A>C c.1309A>C (p.Lys437Gln) c.1251+2443A>C (n.1251+2443A>C) c.1117A>C (p.Lys373Gln) c.934A>C (p.Lys312Gln) | |
1 | g.77935922A>G | CA340878879 | NEXN | c.1351A>G (p.Lys451Glu) c.1159A>G (p.Lys387Glu) c.1050A>G n.811A>G n.925A>G c.1309A>G (p.Lys437Glu) c.1251+2443A>G (n.1251+2443A>G) c.1117A>G (p.Lys373Glu) c.934A>G (p.Lys312Glu) | |
1 | g.77935922A>T | CA340878882 | NEXN | c.1351A>T (p.Lys451Ter) c.1159A>T (p.Lys387Ter) c.1050A>T n.811A>T n.925A>T c.1309A>T (p.Lys437Ter) c.1251+2443A>T (n.1251+2443A>T) c.1117A>T (p.Lys373Ter) c.934A>T (p.Lys312Ter) | |
1 | g.77935923A>C | CA340878889 | NEXN | c.1352A>C (p.Lys451Thr) c.1160A>C (p.Lys387Thr) c.1051A>C n.812A>C n.926A>C c.1310A>C (p.Lys437Thr) c.1251+2444A>C (n.1251+2444A>C) c.1118A>C (p.Lys373Thr) c.935A>C (p.Lys312Thr) | |
1 | g.77935923A>G | CA340878890 | NEXN | c.1352A>G (p.Lys451Arg) c.1160A>G (p.Lys387Arg) c.1051A>G n.812A>G n.926A>G c.1310A>G (p.Lys437Arg) c.1251+2444A>G (n.1251+2444A>G) c.1118A>G (p.Lys373Arg) c.935A>G (p.Lys312Arg) | |
1 | g.77935923A>T | CA340878891 | NEXN | c.1352A>T (p.Lys451Met) c.1160A>T (p.Lys387Met) c.1051A>T n.812A>T n.926A>T c.1310A>T (p.Lys437Met) c.1251+2444A>T (n.1251+2444A>T) c.1118A>T (p.Lys373Met) c.935A>T (p.Lys312Met) | |
1 | g.77935924G>A | CA418709414 | NEXN | c.1353G>A (p.Lys451=) c.1161G>A (p.Lys387=) c.1052G>A n.813G>A n.927G>A c.1311G>A (p.Lys437=) c.1251+2445G>A (n.1251+2445G>A) c.1119G>A (p.Lys373=) c.936G>A (p.Lys312=) | dbSNP gnomAD v4 |
1 | g.77935924G>C | CA340878893 | NEXN | c.1353G>C (p.Lys451Asn) c.1161G>C (p.Lys387Asn) c.1052G>C n.813G>C n.927G>C c.1311G>C (p.Lys437Asn) c.1251+2445G>C (n.1251+2445G>C) c.1119G>C (p.Lys373Asn) c.936G>C (p.Lys312Asn) | |
1 | g.77935924G= | CA1177628303 | NEXN | c.1353G= (p.Lys451=) c.1161G= (p.Lys387=) c.1052G= n.813G= n.927G= c.1311G= (p.Lys437=) c.1251+2445G= (n.1251+2445G=) c.1119G= (p.Lys373=) c.936G= (p.Lys312=) | |
1 | g.77935924G>T | CA340878900 | NEXN | c.1353G>T (p.Lys451Asn) c.1161G>T (p.Lys387Asn) c.1052G>T n.813G>T n.927G>T c.1311G>T (p.Lys437Asn) c.1251+2445G>T (n.1251+2445G>T) c.1119G>T (p.Lys373Asn) c.936G>T (p.Lys312Asn) | |
1 | g.77935925T>A | CA340878919 | NEXN | c.1354T>A (p.Phe452Ile) c.1162T>A (p.Phe388Ile) c.1053T>A n.814T>A n.928T>A c.1312T>A (p.Phe438Ile) c.1251+2446T>A (n.1251+2446T>A) c.1120T>A (p.Phe374Ile) c.937T>A (p.Phe313Ile) | |
1 | g.77935925T>C | CA340878904 | NEXN | c.1354T>C (p.Phe452Leu) c.1162T>C (p.Phe388Leu) c.1053T>C n.814T>C n.928T>C c.1312T>C (p.Phe438Leu) c.1251+2446T>C (n.1251+2446T>C) c.1120T>C (p.Phe374Leu) c.937T>C (p.Phe313Leu) | |
1 | g.77935925T>G | CA340878917 | NEXN | c.1354T>G (p.Phe452Val) c.1162T>G (p.Phe388Val) c.1053T>G n.814T>G n.928T>G c.1312T>G (p.Phe438Val) c.1251+2446T>G (n.1251+2446T>G) c.1120T>G (p.Phe374Val) c.937T>G (p.Phe313Val) | gnomAD v4 |
1 | g.77935926T>A | CA340878921 | NEXN | c.1355T>A (p.Phe452Tyr) c.1163T>A (p.Phe388Tyr) c.1054T>A n.815T>A n.929T>A c.1313T>A (p.Phe438Tyr) c.1251+2447T>A (n.1251+2447T>A) c.1121T>A (p.Phe374Tyr) c.938T>A (p.Phe313Tyr) | |
1 | g.77935926T>C | CA918863 | NEXN | c.1355T>C (p.Phe452Ser) c.1163T>C (p.Phe388Ser) c.1054T>C n.815T>C n.929T>C c.1313T>C (p.Phe438Ser) c.1251+2447T>C (n.1251+2447T>C) c.1121T>C (p.Phe374Ser) c.938T>C (p.Phe313Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.77935926T>G | CA340878924 | NEXN | c.1355T>G (p.Phe452Cys) c.1163T>G (p.Phe388Cys) c.1054T>G n.815T>G n.929T>G c.1313T>G (p.Phe438Cys) c.1251+2447T>G (n.1251+2447T>G) c.1121T>G (p.Phe374Cys) c.938T>G (p.Phe313Cys) | |
1 | g.77935926T= | CA1177628304 | NEXN | c.1355T= (p.Phe452=) c.1163T= (p.Phe388=) c.1054T= n.815T= n.929T= c.1313T= (p.Phe438=) c.1251+2447T= (n.1251+2447T=) c.1121T= (p.Phe374=) c.938T= (p.Phe313=) | |
1 | g.77935927T>A | CA340878927 | NEXN | c.1356T>A (p.Phe452Leu) c.1164T>A (p.Phe388Leu) c.1055T>A n.816T>A n.930T>A c.1314T>A (p.Phe438Leu) c.1251+2448T>A (n.1251+2448T>A) c.1122T>A (p.Phe374Leu) c.939T>A (p.Phe313Leu) | |
1 | g.77935927T>C | CA918864 | NEXN | c.1356T>C (p.Phe452=) c.1164T>C (p.Phe388=) c.1055T>C n.816T>C n.930T>C c.1314T>C (p.Phe438=) c.1251+2448T>C (n.1251+2448T>C) c.1122T>C (p.Phe374=) c.939T>C (p.Phe313=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.77935927T>G | CA340878929 | NEXN | c.1356T>G (p.Phe452Leu) c.1164T>G (p.Phe388Leu) c.1055T>G n.816T>G n.930T>G c.1314T>G (p.Phe438Leu) c.1251+2448T>G (n.1251+2448T>G) c.1122T>G (p.Phe374Leu) c.939T>G (p.Phe313Leu) | |
1 | g.77935927T= | CA1177628305 | NEXN | c.1356T= (p.Phe452=) c.1164T= (p.Phe388=) c.1055T= n.816T= n.930T= c.1314T= (p.Phe438=) c.1251+2448T= (n.1251+2448T=) c.1122T= (p.Phe374=) c.939T= (p.Phe313=) | |
1 | g.77935928G>A | CA340878943 | NEXN | c.1357G>A (p.Glu453Lys) c.1165G>A (p.Glu389Lys) c.1056G>A n.817G>A n.931G>A c.1315G>A (p.Glu439Lys) c.1251+2449G>A (n.1251+2449G>A) c.1123G>A (p.Glu375Lys) c.940G>A (p.Glu314Lys) | COSMIC COSMIC |
1 | g.77935928G>C | CA340878936 | NEXN | c.1357G>C (p.Glu453Gln) c.1165G>C (p.Glu389Gln) c.1056G>C n.817G>C n.931G>C c.1315G>C (p.Glu439Gln) c.1251+2449G>C (n.1251+2449G>C) c.1123G>C (p.Glu375Gln) c.940G>C (p.Glu314Gln) | |
1 | g.77935928G= | CA1177628306 | NEXN | c.1357G= (p.Glu453=) c.1165G= (p.Glu389=) c.1056G= n.817G= n.931G= c.1315G= (p.Glu439=) c.1251+2449G= (n.1251+2449G=) c.1123G= (p.Glu375=) c.940G= (p.Glu314=) | |
1 | g.77935928G>T | CA340878939 | NEXN | c.1357G>T (p.Glu453Ter) c.1165G>T (p.Glu389Ter) c.1056G>T n.817G>T n.931G>T c.1315G>T (p.Glu439Ter) c.1251+2449G>T (n.1251+2449G>T) c.1123G>T (p.Glu375Ter) c.940G>T (p.Glu314Ter) | |
1 | g.77935929A>C | CA340878955 | NEXN | c.1358A>C (p.Glu453Ala) c.1166A>C (p.Glu389Ala) c.1057A>C n.818A>C n.932A>C c.1316A>C (p.Glu439Ala) c.1251+2450A>C (n.1251+2450A>C) c.1124A>C (p.Glu375Ala) c.941A>C (p.Glu314Ala) | |
1 | g.77935929A>G | CA340878972 | NEXN | c.1358A>G (p.Glu453Gly) c.1166A>G (p.Glu389Gly) c.1057A>G n.818A>G n.932A>G c.1316A>G (p.Glu439Gly) c.1251+2450A>G (n.1251+2450A>G) c.1124A>G (p.Glu375Gly) c.941A>G (p.Glu314Gly) | |
1 | g.77935929A>T | CA340878975 | NEXN | c.1358A>T (p.Glu453Val) c.1166A>T (p.Glu389Val) c.1057A>T n.818A>T n.932A>T c.1316A>T (p.Glu439Val) c.1251+2450A>T (n.1251+2450A>T) c.1124A>T (p.Glu375Val) c.941A>T (p.Glu314Val) | |
1 | g.77935934dup | CA524231038 | NEXN | c.1363dup (p.Ile455AsnfsTer6) c.1171dup (p.Ile391AsnfsTer6) c.1062dup n.823dup n.937dup c.1321dup (p.Ile441AsnfsTer6) c.1251+2455dup (n.1251+2455dup) c.1129dup (p.Ile377AsnfsTer6) c.946dup (p.Ile316AsnfsTer6) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.77935934del | CA418709420 | NEXN | c.1363del (p.Ile455LeufsTer13) c.1171del (p.Ile391LeufsTer13) c.1062del n.823del n.937del c.1321del (p.Ile441LeufsTer13) c.1251+2455del (n.1251+2455del) c.1129del (p.Ile377LeufsTer13) c.946del (p.Ile316LeufsTer13) | COSMIC |
1 | g.77935930A>C | CA340878977 | NEXN | c.1359A>C (p.Glu453Asp) c.1167A>C (p.Glu389Asp) c.1058A>C n.819A>C n.933A>C c.1317A>C (p.Glu439Asp) c.1251+2451A>C (n.1251+2451A>C) c.1125A>C (p.Glu375Asp) c.942A>C (p.Glu314Asp) | |
1 | g.77935930A>G | CA418709423 | NEXN | c.1359A>G (p.Glu453=) c.1167A>G (p.Glu389=) c.1058A>G n.819A>G n.933A>G c.1317A>G (p.Glu439=) c.1251+2451A>G (n.1251+2451A>G) c.1125A>G (p.Glu375=) c.942A>G (p.Glu314=) | |
1 | g.77935930A>T | CA340878980 | NEXN | c.1359A>T (p.Glu453Asp) c.1167A>T (p.Glu389Asp) c.1058A>T n.819A>T n.933A>T c.1317A>T (p.Glu439Asp) c.1251+2451A>T (n.1251+2451A>T) c.1125A>T (p.Glu375Asp) c.942A>T (p.Glu314Asp) | |
1 | g.77935931A= | CA1177628307 | NEXN | c.1360A= (p.Lys454=) c.1168A= (p.Lys390=) c.1059A= n.820A= n.934A= c.1318A= (p.Lys440=) c.1251+2452A= (n.1251+2452A=) c.1126A= (p.Lys376=) c.943A= (p.Lys315=) | |
1 | g.77935931A>C | CA340878990 | NEXN | c.1360A>C (p.Lys454Gln) c.1168A>C (p.Lys390Gln) c.1059A>C n.820A>C n.934A>C c.1318A>C (p.Lys440Gln) c.1251+2452A>C (n.1251+2452A>C) c.1126A>C (p.Lys376Gln) c.943A>C (p.Lys315Gln) | COSMIC |
1 | g.77935931A>G | CA340878982 | NEXN | c.1360A>G (p.Lys454Glu) c.1168A>G (p.Lys390Glu) c.1059A>G n.820A>G n.934A>G c.1318A>G (p.Lys440Glu) c.1251+2452A>G (n.1251+2452A>G) c.1126A>G (p.Lys376Glu) c.943A>G (p.Lys315Glu) | dbSNP gnomAD v4 |
1 | g.77935931A>T | CA340878984 | NEXN | c.1360A>T (p.Lys454Ter) c.1168A>T (p.Lys390Ter) c.1059A>T n.820A>T n.934A>T c.1318A>T (p.Lys440Ter) c.1251+2452A>T (n.1251+2452A>T) c.1126A>T (p.Lys376Ter) c.943A>T (p.Lys315Ter) | |
1 | g.77935932A>C | CA340878993 | NEXN | c.1361A>C (p.Lys454Thr) c.1169A>C (p.Lys390Thr) c.1060A>C n.821A>C n.935A>C c.1319A>C (p.Lys440Thr) c.1251+2453A>C (n.1251+2453A>C) c.1127A>C (p.Lys376Thr) c.944A>C (p.Lys315Thr) | |
1 | g.77935932A>G | CA340878996 | NEXN | c.1361A>G (p.Lys454Arg) c.1169A>G (p.Lys390Arg) c.1060A>G n.821A>G n.935A>G c.1319A>G (p.Lys440Arg) c.1251+2453A>G (n.1251+2453A>G) c.1127A>G (p.Lys376Arg) c.944A>G (p.Lys315Arg) | |
1 | g.77935932A>T | CA340878998 | NEXN | c.1361A>T (p.Lys454Ile) c.1169A>T (p.Lys390Ile) c.1060A>T n.821A>T n.935A>T c.1319A>T (p.Lys440Ile) c.1251+2453A>T (n.1251+2453A>T) c.1127A>T (p.Lys376Ile) c.944A>T (p.Lys315Ile) | |
1 | g.77935933A>C | CA340879000 | NEXN | c.1362A>C (p.Lys454Asn) c.1170A>C (p.Lys390Asn) c.1061A>C n.822A>C n.936A>C c.1320A>C (p.Lys440Asn) c.1251+2454A>C (n.1251+2454A>C) c.1128A>C (p.Lys376Asn) c.945A>C (p.Lys315Asn) | |
1 | g.77935933A>G | CA418709425 | NEXN | c.1362A>G (p.Lys454=) c.1170A>G (p.Lys390=) c.1061A>G n.822A>G n.936A>G c.1320A>G (p.Lys440=) c.1251+2454A>G (n.1251+2454A>G) c.1128A>G (p.Lys376=) c.945A>G (p.Lys315=) | |
1 | g.77935933A>T | CA340879013 | NEXN | c.1362A>T (p.Lys454Asn) c.1170A>T (p.Lys390Asn) c.1061A>T n.822A>T n.936A>T c.1320A>T (p.Lys440Asn) c.1251+2454A>T (n.1251+2454A>T) c.1128A>T (p.Lys376Asn) c.945A>T (p.Lys315Asn) | |
1 | g.77935934A= | CA1177628308 | NEXN | c.1363A= (p.Ile455=) c.1171A= (p.Ile391=) c.1062A= n.823A= n.937A= c.1321A= (p.Ile441=) c.1251+2455A= (n.1251+2455A=) c.1129A= (p.Ile377=) c.946A= (p.Ile316=) | |
1 | g.77935934A>C | CA340879016 | NEXN | c.1363A>C (p.Ile455Leu) c.1171A>C (p.Ile391Leu) c.1062A>C n.823A>C n.937A>C c.1321A>C (p.Ile441Leu) c.1251+2455A>C (n.1251+2455A>C) c.1129A>C (p.Ile377Leu) c.946A>C (p.Ile316Leu) | |
1 | g.77935934A>G | CA340879017 | NEXN | c.1363A>G (p.Ile455Val) c.1171A>G (p.Ile391Val) c.1062A>G n.823A>G n.937A>G c.1321A>G (p.Ile441Val) c.1251+2455A>G (n.1251+2455A>G) c.1129A>G (p.Ile377Val) c.946A>G (p.Ile316Val) | dbSNP |
1 | g.77935934A>T | CA340879018 | NEXN | c.1363A>T (p.Ile455Phe) c.1171A>T (p.Ile391Phe) c.1062A>T n.823A>T n.937A>T c.1321A>T (p.Ile441Phe) c.1251+2455A>T (n.1251+2455A>T) c.1129A>T (p.Ile377Phe) c.946A>T (p.Ile316Phe) | |
1 | g.77935935T>A | CA340879019 | NEXN | c.1364T>A (p.Ile455Asn) c.1172T>A (p.Ile391Asn) c.1063T>A n.824T>A n.938T>A c.1322T>A (p.Ile441Asn) c.1251+2456T>A (n.1251+2456T>A) c.1130T>A (p.Ile377Asn) c.947T>A (p.Ile316Asn) | |
1 | g.77935935T>C | CA340879020 | NEXN | c.1364T>C (p.Ile455Thr) c.1172T>C (p.Ile391Thr) c.1063T>C n.824T>C n.938T>C c.1322T>C (p.Ile441Thr) c.1251+2456T>C (n.1251+2456T>C) c.1130T>C (p.Ile377Thr) c.947T>C (p.Ile316Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77935935T>G | CA340879021 | NEXN | c.1364T>G (p.Ile455Ser) c.1172T>G (p.Ile391Ser) c.1063T>G n.824T>G n.938T>G c.1322T>G (p.Ile441Ser) c.1251+2456T>G (n.1251+2456T>G) c.1130T>G (p.Ile377Ser) c.947T>G (p.Ile316Ser) | gnomAD v4 |
1 | g.77935935T= | CA1177628309 | NEXN | c.1364T= (p.Ile455=) c.1172T= (p.Ile391=) c.1063T= n.824T= n.938T= c.1322T= (p.Ile441=) c.1251+2456T= (n.1251+2456T=) c.1130T= (p.Ile377=) c.947T= (p.Ile316=) | |
1 | g.77935936T>A | CA418709426 | NEXN | c.1365T>A (p.Ile455=) c.1173T>A (p.Ile391=) c.1064T>A n.825T>A n.939T>A c.1323T>A (p.Ile441=) c.1251+2457T>A (n.1251+2457T>A) c.1131T>A (p.Ile377=) c.948T>A (p.Ile316=) | |
1 | g.77935936T>C | CA418709427 | NEXN | c.1365T>C (p.Ile455=) c.1173T>C (p.Ile391=) c.1064T>C n.825T>C n.939T>C c.1323T>C (p.Ile441=) c.1251+2457T>C (n.1251+2457T>C) c.1131T>C (p.Ile377=) c.948T>C (p.Ile316=) | gnomAD v4 |
1 | g.77935936T>G | CA340879023 | NEXN | c.1365T>G (p.Ile455Met) c.1173T>G (p.Ile391Met) c.1064T>G n.825T>G n.939T>G c.1323T>G (p.Ile441Met) c.1251+2457T>G (n.1251+2457T>G) c.1131T>G (p.Ile377Met) c.948T>G (p.Ile316Met) | |
1 | g.77935937G>A | CA142107 | NEXN | c.1366G>A (p.Gly456Arg) c.1174G>A (p.Gly392Arg) c.1065G>A n.826G>A n.940G>A c.1324G>A (p.Gly442Arg) c.1251+2458G>A (n.1251+2458G>A) c.1132G>A (p.Gly378Arg) c.949G>A (p.Gly317Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77935937G>C | CA340879026 | NEXN | c.1366G>C (p.Gly456Arg) c.1174G>C (p.Gly392Arg) c.1065G>C n.826G>C n.940G>C c.1324G>C (p.Gly442Arg) c.1251+2458G>C (n.1251+2458G>C) c.1132G>C (p.Gly378Arg) c.949G>C (p.Gly317Arg) | |
1 | g.77935937G= | CA1144228872 | NEXN | c.1366G= (p.Gly456=) c.1174G= (p.Gly392=) c.1065G= n.826G= n.940G= c.1324G= (p.Gly442=) c.1251+2458G= (n.1251+2458G=) c.1132G= (p.Gly378=) c.949G= (p.Gly317=) | |
1 | g.77935937G>T | CA340879028 | NEXN | c.1366G>T (p.Gly456Ter) c.1174G>T (p.Gly392Ter) c.1065G>T n.826G>T n.940G>T c.1324G>T (p.Gly442Ter) c.1251+2458G>T (n.1251+2458G>T) c.1132G>T (p.Gly378Ter) c.949G>T (p.Gly317Ter) | |
1 | g.77935938G>A | CA340879031 | NEXN | c.1367G>A (p.Gly456Glu) c.1175G>A (p.Gly392Glu) c.1066G>A n.827G>A n.941G>A c.1325G>A (p.Gly442Glu) c.1251+2459G>A (n.1251+2459G>A) c.1133G>A (p.Gly378Glu) c.950G>A (p.Gly317Glu) | COSMIC COSMIC |
1 | g.77935938G>C | CA340879032 | NEXN | c.1367G>C (p.Gly456Ala) c.1175G>C (p.Gly392Ala) c.1066G>C n.827G>C n.941G>C c.1325G>C (p.Gly442Ala) c.1251+2459G>C (n.1251+2459G>C) c.1133G>C (p.Gly378Ala) c.950G>C (p.Gly317Ala) | |
1 | g.77935938G>T | CA340879038 | NEXN | c.1367G>T (p.Gly456Val) c.1175G>T (p.Gly392Val) c.1066G>T n.827G>T n.941G>T c.1325G>T (p.Gly442Val) c.1251+2459G>T (n.1251+2459G>T) c.1133G>T (p.Gly378Val) c.950G>T (p.Gly317Val) | |
1 | g.77935939A= | CA1144228873 | NEXN | c.1368A= (p.Gly456=) c.1176A= (p.Gly392=) c.1067A= n.828A= n.942A= c.1326A= (p.Gly442=) c.1251+2460A= (n.1251+2460A=) c.1134A= (p.Gly378=) c.951A= (p.Gly317=) | |
1 | g.77935939A>C | CA142110 | NEXN | c.1368A>C (p.Gly456=) c.1176A>C (p.Gly392=) c.1067A>C n.828A>C n.942A>C c.1326A>C (p.Gly442=) c.1251+2460A>C (n.1251+2460A>C) c.1134A>C (p.Gly378=) c.951A>C (p.Gly317=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77935939A>G | CA418709428 | NEXN | c.1368A>G (p.Gly456=) c.1176A>G (p.Gly392=) c.1067A>G n.828A>G n.942A>G c.1326A>G (p.Gly442=) c.1251+2460A>G (n.1251+2460A>G) c.1134A>G (p.Gly378=) c.951A>G (p.Gly317=) | ClinVar dbSNP |
1 | g.77935939A>T | CA418709430 | NEXN | c.1368A>T (p.Gly456=) c.1176A>T (p.Gly392=) c.1067A>T n.828A>T n.942A>T c.1326A>T (p.Gly442=) c.1251+2460A>T (n.1251+2460A>T) c.1134A>T (p.Gly378=) c.951A>T (p.Gly317=) | |
1 | g.77935940_77935941del | CA2744232142 | NEXN | c.1369_1370del (p.Gln457ValfsTer3) c.1177_1178del (p.Gln393ValfsTer3) c.1068_1069del n.829_830del n.943_944del c.1327_1328del (p.Gln443ValfsTer3) c.1251+2461_1251+2462del (n.1251+2461_1251+2462del) c.1135_1136del (p.Gln379ValfsTer3) c.952_953del (p.Gln318ValfsTer3) | |
1 | g.77935940C>A | CA340879043 | NEXN | c.1369C>A (p.Gln457Lys) c.1177C>A (p.Gln393Lys) c.1068C>A n.829C>A n.943C>A c.1327C>A (p.Gln443Lys) c.1251+2461C>A (n.1251+2461C>A) c.1135C>A (p.Gln379Lys) c.952C>A (p.Gln318Lys) | |
1 | g.77935940C>G | CA340879048 | NEXN | c.1369C>G (p.Gln457Glu) c.1177C>G (p.Gln393Glu) c.1068C>G n.829C>G n.943C>G c.1327C>G (p.Gln443Glu) c.1251+2461C>G (n.1251+2461C>G) c.1135C>G (p.Gln379Glu) c.952C>G (p.Gln318Glu) | gnomAD v4 |
1 | g.77935940C>T | CA340879050 | NEXN | c.1369C>T (p.Gln457Ter) c.1177C>T (p.Gln393Ter) c.1068C>T n.829C>T n.943C>T c.1327C>T (p.Gln443Ter) c.1251+2461C>T (n.1251+2461C>T) c.1135C>T (p.Gln379Ter) c.952C>T (p.Gln318Ter) | |
1 | g.77935940dup | CA1003482936 | NEXN | c.1369dup (p.Gln457ProfsTer4) c.1177dup (p.Gln393ProfsTer4) c.1068dup n.829dup n.943dup c.1327dup (p.Gln443ProfsTer4) c.1251+2461dup (n.1251+2461dup) c.1135dup (p.Gln379ProfsTer4) c.952dup (p.Gln318ProfsTer4) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.77935941A>C | CA340879052 | NEXN | c.1370A>C (p.Gln457Pro) c.1178A>C (p.Gln393Pro) c.1069A>C n.830A>C n.944A>C c.1328A>C (p.Gln443Pro) c.1251+2462A>C (n.1251+2462A>C) c.1136A>C (p.Gln379Pro) c.953A>C (p.Gln318Pro) | |
1 | g.77935941A>G | CA340879058 | NEXN | c.1370A>G (p.Gln457Arg) c.1178A>G (p.Gln393Arg) c.1069A>G n.830A>G n.944A>G c.1328A>G (p.Gln443Arg) c.1251+2462A>G (n.1251+2462A>G) c.1136A>G (p.Gln379Arg) c.953A>G (p.Gln318Arg) | |
1 | g.77935941A>T | CA340879056 | NEXN | c.1370A>T (p.Gln457Leu) c.1178A>T (p.Gln393Leu) c.1069A>T n.830A>T n.944A>T c.1328A>T (p.Gln443Leu) c.1251+2462A>T (n.1251+2462A>T) c.1136A>T (p.Gln379Leu) c.953A>T (p.Gln318Leu) | |
1 | g.77935942G>A | CA418709431 | NEXN | c.1371G>A (p.Gln457=) c.1179G>A (p.Gln393=) c.1070G>A n.831G>A n.945G>A c.1329G>A (p.Gln443=) c.1251+2463G>A (n.1251+2463G>A) c.1137G>A (p.Gln379=) c.954G>A (p.Gln318=) | dbSNP |
1 | g.77935942G>C | CA340879068 | NEXN | c.1371G>C (p.Gln457His) c.1179G>C (p.Gln393His) c.1070G>C n.831G>C n.945G>C c.1329G>C (p.Gln443His) c.1251+2463G>C (n.1251+2463G>C) c.1137G>C (p.Gln379His) c.954G>C (p.Gln318His) | |
1 | g.77935942G>T | CA340879072 | NEXN | c.1371G>T (p.Gln457His) c.1179G>T (p.Gln393His) c.1070G>T n.831G>T n.945G>T c.1329G>T (p.Gln443His) c.1251+2463G>T (n.1251+2463G>T) c.1137G>T (p.Gln379His) c.954G>T (p.Gln318His) | |
1 | g.77935943T>A | CA340879074 | NEXN | c.1372T>A (p.Leu458Met) c.1180T>A (p.Leu394Met) c.1071T>A n.832T>A n.946T>A c.1330T>A (p.Leu444Met) c.1251+2464T>A (n.1251+2464T>A) c.1138T>A (p.Leu380Met) c.955T>A (p.Leu319Met) | gnomAD v4 |
1 | g.77935943T>C | CA418709433 | NEXN | c.1372T>C (p.Leu458=) c.1180T>C (p.Leu394=) c.1071T>C n.832T>C n.946T>C c.1330T>C (p.Leu444=) c.1251+2464T>C (n.1251+2464T>C) c.1138T>C (p.Leu380=) c.955T>C (p.Leu319=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.77935943T>G | CA340879077 | NEXN | c.1372T>G (p.Leu458Val) c.1180T>G (p.Leu394Val) c.1071T>G n.832T>G n.946T>G c.1330T>G (p.Leu444Val) c.1251+2464T>G (n.1251+2464T>G) c.1138T>G (p.Leu380Val) c.955T>G (p.Leu319Val) | |
1 | g.77935943T= | CA1177628310 | NEXN | c.1372T= (p.Leu458=) c.1180T= (p.Leu394=) c.1071T= n.832T= n.946T= c.1330T= (p.Leu444=) c.1251+2464T= (n.1251+2464T=) c.1138T= (p.Leu380=) c.955T= (p.Leu319=) | |
1 | g.77935944T>A | CA340879079 | NEXN | c.1373T>A (p.Leu458Ter) c.1181T>A (p.Leu394Ter) c.1072T>A n.833T>A n.947T>A c.1331T>A (p.Leu444Ter) c.1251+2465T>A (n.1251+2465T>A) c.1139T>A (p.Leu380Ter) c.956T>A (p.Leu319Ter) | |
1 | g.77935944T>C | CA340879090 | NEXN | c.1373T>C (p.Leu458Ser) c.1181T>C (p.Leu394Ser) c.1072T>C n.833T>C n.947T>C c.1331T>C (p.Leu444Ser) c.1251+2465T>C (n.1251+2465T>C) c.1139T>C (p.Leu380Ser) c.956T>C (p.Leu319Ser) | |
1 | g.77935944T>G | CA340879087 | NEXN | c.1373T>G (p.Leu458Trp) c.1181T>G (p.Leu394Trp) c.1072T>G n.833T>G n.947T>G c.1331T>G (p.Leu444Trp) c.1251+2465T>G (n.1251+2465T>G) c.1139T>G (p.Leu380Trp) c.956T>G (p.Leu319Trp) | |
1 | g.77935945G>A | CA418709434 | NEXN | c.1374G>A (p.Leu458=) c.1182G>A (p.Leu394=) c.1073G>A n.834G>A n.948G>A c.1332G>A (p.Leu444=) c.1251+2466G>A (n.1251+2466G>A) c.1140G>A (p.Leu380=) c.957G>A (p.Leu319=) | |
1 | g.77935945G>C | CA340879092 | NEXN | c.1374G>C (p.Leu458Phe) c.1182G>C (p.Leu394Phe) c.1073G>C n.834G>C n.948G>C c.1332G>C (p.Leu444Phe) c.1251+2466G>C (n.1251+2466G>C) c.1140G>C (p.Leu380Phe) c.957G>C (p.Leu319Phe) | |
1 | g.77935945G= | CA1177628311 | NEXN | c.1374G= (p.Leu458=) c.1182G= (p.Leu394=) c.1073G= n.834G= n.948G= c.1332G= (p.Leu444=) c.1251+2466G= (n.1251+2466G=) c.1140G= (p.Leu380=) c.957G= (p.Leu319=) | |
1 | g.77935945G>T | CA24686520 | NEXN | c.1374G>T (p.Leu458Phe) c.1182G>T (p.Leu394Phe) c.1073G>T n.834G>T n.948G>T c.1332G>T (p.Leu444Phe) c.1251+2466G>T (n.1251+2466G>T) c.1140G>T (p.Leu380Phe) c.957G>T (p.Leu319Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77935946T>A | CA340879098 | NEXN | c.1375T>A (p.Ser459Thr) c.1183T>A (p.Ser395Thr) c.1074T>A n.835T>A n.949T>A c.1333T>A (p.Ser445Thr) c.1251+2467T>A (n.1251+2467T>A) c.1141T>A (p.Ser381Thr) c.958T>A (p.Ser320Thr) | |
1 | g.77935946T>C | CA918865 | NEXN | c.1375T>C (p.Ser459Pro) c.1183T>C (p.Ser395Pro) c.1074T>C n.835T>C n.949T>C c.1333T>C (p.Ser445Pro) c.1251+2467T>C (n.1251+2467T>C) c.1141T>C (p.Ser381Pro) c.958T>C (p.Ser320Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.77935946T>G | CA340879101 | NEXN | c.1375T>G (p.Ser459Ala) c.1183T>G (p.Ser395Ala) c.1074T>G n.835T>G n.949T>G c.1333T>G (p.Ser445Ala) c.1251+2467T>G (n.1251+2467T>G) c.1141T>G (p.Ser381Ala) c.958T>G (p.Ser320Ala) | |
1 | g.77935946T= | CA1177628312 | NEXN | c.1375T= (p.Ser459=) c.1183T= (p.Ser395=) c.1074T= n.835T= n.949T= c.1333T= (p.Ser445=) c.1251+2467T= (n.1251+2467T=) c.1141T= (p.Ser381=) c.958T= (p.Ser320=) | |
1 | g.77935947C>A | CA340879104 | NEXN | c.1376C>A (p.Ser459Tyr) c.1184C>A (p.Ser395Tyr) c.1075C>A n.836C>A n.950C>A c.1334C>A (p.Ser445Tyr) c.1251+2468C>A (n.1251+2468C>A) c.1142C>A (p.Ser381Tyr) c.959C>A (p.Ser320Tyr) | |
1 | g.77935947C>G | CA340879109 | NEXN | c.1376C>G (p.Ser459Cys) c.1184C>G (p.Ser395Cys) c.1075C>G n.836C>G n.950C>G c.1334C>G (p.Ser445Cys) c.1251+2468C>G (n.1251+2468C>G) c.1142C>G (p.Ser381Cys) c.959C>G (p.Ser320Cys) | COSMIC |
1 | g.77935947C>T | CA340879119 | NEXN | c.1376C>T (p.Ser459Phe) c.1184C>T (p.Ser395Phe) c.1075C>T n.836C>T n.950C>T c.1334C>T (p.Ser445Phe) c.1251+2468C>T (n.1251+2468C>T) c.1142C>T (p.Ser381Phe) c.959C>T (p.Ser320Phe) | gnomAD v4 |
1 | g.77935948T>A | CA418709435 | NEXN | c.1377T>A (p.Ser459=) c.1185T>A (p.Ser395=) c.1076T>A n.837T>A n.951T>A c.1335T>A (p.Ser445=) c.1251+2469T>A (n.1251+2469T>A) c.1143T>A (p.Ser381=) c.960T>A (p.Ser320=) | ClinVar dbSNP gnomAD v4 |
1 | g.77935948T>C | CA418709436 | NEXN | c.1377T>C (p.Ser459=) c.1185T>C (p.Ser395=) c.1076T>C n.837T>C n.951T>C c.1335T>C (p.Ser445=) c.1251+2469T>C (n.1251+2469T>C) c.1143T>C (p.Ser381=) c.960T>C (p.Ser320=) | dbSNP |
1 | g.77935948T>G | CA418709437 | NEXN | c.1377T>G (p.Ser459=) c.1185T>G (p.Ser395=) c.1076T>G n.837T>G n.951T>G c.1335T>G (p.Ser445=) c.1251+2469T>G (n.1251+2469T>G) c.1143T>G (p.Ser381=) c.960T>G (p.Ser320=) | |
1 | g.77935949G>A | CA340879124 | NEXN | c.1378G>A (p.Glu460Lys) c.1186G>A (p.Glu396Lys) c.1077G>A n.838G>A n.952G>A c.1336G>A (p.Glu446Lys) c.1251+2470G>A (n.1251+2470G>A) c.1144G>A (p.Glu382Lys) c.961G>A (p.Glu321Lys) | |
1 | g.77935949G>C | CA340879126 | NEXN | c.1378G>C (p.Glu460Gln) c.1186G>C (p.Glu396Gln) c.1077G>C n.838G>C n.952G>C c.1336G>C (p.Glu446Gln) c.1251+2470G>C (n.1251+2470G>C) c.1144G>C (p.Glu382Gln) c.961G>C (p.Glu321Gln) | |
1 | g.77935949G>T | CA340879127 | NEXN | c.1378G>T (p.Glu460Ter) c.1186G>T (p.Glu396Ter) c.1077G>T n.838G>T n.952G>T c.1336G>T (p.Glu446Ter) c.1251+2470G>T (n.1251+2470G>T) c.1144G>T (p.Glu382Ter) c.961G>T (p.Glu321Ter) | |
1 | g.77935950A>C | CA340879130 | NEXN | c.1379A>C (p.Glu460Ala) c.1187A>C (p.Glu396Ala) c.1078A>C n.839A>C n.953A>C c.1337A>C (p.Glu446Ala) c.1251+2471A>C (n.1251+2471A>C) c.1145A>C (p.Glu382Ala) c.962A>C (p.Glu321Ala) | |
1 | g.77935950A>G | CA340879134 | NEXN | c.1379A>G (p.Glu460Gly) c.1187A>G (p.Glu396Gly) c.1078A>G n.839A>G n.953A>G c.1337A>G (p.Glu446Gly) c.1251+2471A>G (n.1251+2471A>G) c.1145A>G (p.Glu382Gly) c.962A>G (p.Glu321Gly) | |
1 | g.77935950A>T | CA340879133 | NEXN | c.1379A>T (p.Glu460Val) c.1187A>T (p.Glu396Val) c.1078A>T n.839A>T n.953A>T c.1337A>T (p.Glu446Val) c.1251+2471A>T (n.1251+2471A>T) c.1145A>T (p.Glu382Val) c.962A>T (p.Glu321Val) | |
1 | g.77935954del | CA645529041 | NEXN | c.1383del (p.Glu462LysfsTer6) c.1191del (p.Glu398LysfsTer6) c.1082del n.843del n.957del c.1341del (p.Glu448LysfsTer6) c.1251+2475del (n.1251+2475del) c.1149del (p.Glu384LysfsTer6) c.966del (p.Glu323LysfsTer6) | COSMIC COSMIC |
1 | g.77935951A>C | CA340879137 | NEXN | c.1380A>C (p.Glu460Asp) c.1188A>C (p.Glu396Asp) c.1079A>C n.840A>C n.954A>C c.1338A>C (p.Glu446Asp) c.1251+2472A>C (n.1251+2472A>C) c.1146A>C (p.Glu382Asp) c.963A>C (p.Glu321Asp) | |
1 | g.77935951A>G | CA418709438 | NEXN | c.1380A>G (p.Glu460=) c.1188A>G (p.Glu396=) c.1079A>G n.840A>G n.954A>G c.1338A>G (p.Glu446=) c.1251+2472A>G (n.1251+2472A>G) c.1146A>G (p.Glu382=) c.963A>G (p.Glu321=) | |
1 | g.77935951A>T | CA340879139 | NEXN | c.1380A>T (p.Glu460Asp) c.1188A>T (p.Glu396Asp) c.1079A>T n.840A>T n.954A>T c.1338A>T (p.Glu446Asp) c.1251+2472A>T (n.1251+2472A>T) c.1146A>T (p.Glu382Asp) c.963A>T (p.Glu321Asp) | |
1 | g.77935952A>C | CA340879145 | NEXN | c.1381A>C (p.Lys461Gln) c.1189A>C (p.Lys397Gln) c.1080A>C n.841A>C n.955A>C c.1339A>C (p.Lys447Gln) c.1251+2473A>C (n.1251+2473A>C) c.1147A>C (p.Lys383Gln) c.964A>C (p.Lys322Gln) | |
1 | g.77935952A>G | CA340879149 | NEXN | c.1381A>G (p.Lys461Glu) c.1189A>G (p.Lys397Glu) c.1080A>G n.841A>G n.955A>G c.1339A>G (p.Lys447Glu) c.1251+2473A>G (n.1251+2473A>G) c.1147A>G (p.Lys383Glu) c.964A>G (p.Lys322Glu) | |
1 | g.77935952A>T | CA340879148 | NEXN | c.1381A>T (p.Lys461Ter) c.1189A>T (p.Lys397Ter) c.1080A>T n.841A>T n.955A>T c.1339A>T (p.Lys447Ter) c.1251+2473A>T (n.1251+2473A>T) c.1147A>T (p.Lys383Ter) c.964A>T (p.Lys322Ter) | |
1 | g.77935955_77935958del | CA2573051621 | NEXN | c.1384_1387del (p.Glu462TyrfsTer5) c.1192_1195del (p.Glu398TyrfsTer5) c.1083_1086del n.844_847del n.958_961del c.1342_1345del (p.Glu448TyrfsTer5) c.1251+2476_1251+2479del (n.1251+2476_1251+2479del) c.1150_1153del (p.Glu384TyrfsTer5) c.967_970del (p.Glu323TyrfsTer5) | ClinVar dbSNP gnomAD v4 |
1 | g.77935953A= | CA1177628313 | NEXN | c.1382A= (p.Lys461=) c.1190A= (p.Lys397=) c.1081A= n.842A= n.956A= c.1340A= (p.Lys447=) c.1251+2474A= (n.1251+2474A=) c.1148A= (p.Lys383=) c.965A= (p.Lys322=) | |
1 | g.77935953A>C | CA340879151 | NEXN | c.1382A>C (p.Lys461Thr) c.1190A>C (p.Lys397Thr) c.1081A>C n.842A>C n.956A>C c.1340A>C (p.Lys447Thr) c.1251+2474A>C (n.1251+2474A>C) c.1148A>C (p.Lys383Thr) c.965A>C (p.Lys322Thr) | |
1 | g.77935953A>G | CA340879153 | NEXN | c.1382A>G (p.Lys461Arg) c.1190A>G (p.Lys397Arg) c.1081A>G n.842A>G n.956A>G c.1340A>G (p.Lys447Arg) c.1251+2474A>G (n.1251+2474A>G) c.1148A>G (p.Lys383Arg) c.965A>G (p.Lys322Arg) | |
1 | g.77935953A>T | CA340879154 | NEXN | c.1382A>T (p.Lys461Ile) c.1190A>T (p.Lys397Ile) c.1081A>T n.842A>T n.956A>T c.1340A>T (p.Lys447Ile) c.1251+2474A>T (n.1251+2474A>T) c.1148A>T (p.Lys383Ile) c.965A>T (p.Lys322Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.77935954A>C | CA340879156 | NEXN | c.1383A>C (p.Lys461Asn) c.1191A>C (p.Lys397Asn) c.1082A>C n.843A>C n.957A>C c.1341A>C (p.Lys447Asn) c.1251+2475A>C (n.1251+2475A>C) c.1149A>C (p.Lys383Asn) c.966A>C (p.Lys322Asn) | |
1 | g.77935954A>G | CA418709439 | NEXN | c.1383A>G (p.Lys461=) c.1191A>G (p.Lys397=) c.1082A>G n.843A>G n.957A>G c.1341A>G (p.Lys447=) c.1251+2475A>G (n.1251+2475A>G) c.1149A>G (p.Lys383=) c.966A>G (p.Lys322=) | ClinVar |
1 | g.77935954A>T | CA340879158 | NEXN | c.1383A>T (p.Lys461Asn) c.1191A>T (p.Lys397Asn) c.1082A>T n.843A>T n.957A>T c.1341A>T (p.Lys447Asn) c.1251+2475A>T (n.1251+2475A>T) c.1149A>T (p.Lys383Asn) c.966A>T (p.Lys322Asn) | |
1 | g.77935955G>A | CA24686551 | NEXN | c.1384G>A (p.Glu462Lys) c.1192G>A (p.Glu398Lys) c.1083G>A n.844G>A n.958G>A c.1342G>A (p.Glu448Lys) c.1251+2476G>A (n.1251+2476G>A) c.1150G>A (p.Glu384Lys) c.967G>A (p.Glu323Lys) | dbSNP |
1 | g.77935955G>C | CA340879166 | NEXN | c.1384G>C (p.Glu462Gln) c.1192G>C (p.Glu398Gln) c.1083G>C n.844G>C n.958G>C c.1342G>C (p.Glu448Gln) c.1251+2476G>C (n.1251+2476G>C) c.1150G>C (p.Glu384Gln) c.967G>C (p.Glu323Gln) | |
1 | g.77935955G= | CA1177628315 | NEXN | c.1384G= (p.Glu462=) c.1192G= (p.Glu398=) c.1083G= n.844G= n.958G= c.1342G= (p.Glu448=) c.1251+2476G= (n.1251+2476G=) c.1150G= (p.Glu384=) c.967G= (p.Glu323=) | |
1 | g.77935955G>T | CA340879168 | NEXN | c.1384G>T (p.Glu462Ter) c.1192G>T (p.Glu398Ter) c.1083G>T n.844G>T n.958G>T c.1342G>T (p.Glu448Ter) c.1251+2476G>T (n.1251+2476G>T) c.1150G>T (p.Glu384Ter) c.967G>T (p.Glu323Ter) | |
1 | g.77935955_77935956delinsGA | CA1177628314 | NEXN | c.1384_1385delinsGA (p.Glu462=) c.1192_1193delinsGA (p.Glu398=) c.1083_1084delinsGA n.844_845delinsGA n.958_959delinsGA c.1342_1343delinsGA (p.Glu448=) c.1251+2476_1251+2477delinsGA (n.1251+2476_1251+2477delinsGA) c.1150_1151delinsGA (p.Glu384=) c.967_968delinsGA (p.Glu323=) | |
1 | g.77935956A= | CA1177628316 | NEXN | c.1385A= (p.Glu462=) c.1193A= (p.Glu398=) c.1084A= n.845A= n.959A= c.1343A= (p.Glu448=) c.1251+2477A= (n.1251+2477A=) c.1151A= (p.Glu384=) c.968A= (p.Glu323=) | |
1 | g.77935956A>C | CA340879170 | NEXN | c.1385A>C (p.Glu462Ala) c.1193A>C (p.Glu398Ala) c.1084A>C n.845A>C n.959A>C c.1343A>C (p.Glu448Ala) c.1251+2477A>C (n.1251+2477A>C) c.1151A>C (p.Glu384Ala) c.968A>C (p.Glu323Ala) | |
1 | g.77935956A>G | CA340879172 | NEXN | c.1385A>G (p.Glu462Gly) c.1193A>G (p.Glu398Gly) c.1084A>G n.845A>G n.959A>G c.1343A>G (p.Glu448Gly) c.1251+2477A>G (n.1251+2477A>G) c.1151A>G (p.Glu384Gly) c.968A>G (p.Glu323Gly) | |
1 | g.77935956A>T | CA918867 | NEXN | c.1385A>T (p.Glu462Val) c.1193A>T (p.Glu398Val) c.1084A>T n.845A>T n.959A>T c.1343A>T (p.Glu448Val) c.1251+2477A>T (n.1251+2477A>T) c.1151A>T (p.Glu384Val) c.968A>T (p.Glu323Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.77935958del | CA918866 | NEXN | c.1387del (p.Ile463TyrfsTer5) c.1195del (p.Ile399TyrfsTer5) c.1086del n.847del n.961del c.1345del (p.Ile449TyrfsTer5) c.1251+2479del (n.1251+2479del) c.1153del (p.Ile385TyrfsTer5) c.970del (p.Ile324TyrfsTer5) | dbSNP ExAC gnomAD v2 |
1 | g.77935957_77935958del | CA2574414118 | NEXN | c.1386_1387del (p.Glu462AspfsTer16) c.1194_1195del (p.Glu398AspfsTer16) c.1085_1086del n.846_847del n.960_961del c.1344_1345del (p.Glu448AspfsTer16) c.1251+2478_1251+2479del (n.1251+2478_1251+2479del) c.1152_1153del (p.Glu384AspfsTer16) c.969_970del (p.Glu323AspfsTer16) | |
1 | g.77935957A>C | CA340879174 | NEXN | c.1386A>C (p.Glu462Asp) c.1194A>C (p.Glu398Asp) c.1085A>C n.846A>C n.960A>C c.1344A>C (p.Glu448Asp) c.1251+2478A>C (n.1251+2478A>C) c.1152A>C (p.Glu384Asp) c.969A>C (p.Glu323Asp) | |
1 | g.77935957A>G | CA418709440 | NEXN | c.1386A>G (p.Glu462=) c.1194A>G (p.Glu398=) c.1085A>G n.846A>G n.960A>G c.1344A>G (p.Glu448=) c.1251+2478A>G (n.1251+2478A>G) c.1152A>G (p.Glu384=) c.969A>G (p.Glu323=) | |
1 | g.77935957A>T | CA340879176 | NEXN | c.1386A>T (p.Glu462Asp) c.1194A>T (p.Glu398Asp) c.1085A>T n.846A>T n.960A>T c.1344A>T (p.Glu448Asp) c.1251+2478A>T (n.1251+2478A>T) c.1152A>T (p.Glu384Asp) c.969A>T (p.Glu323Asp) | |
1 | g.77935958A= | CA1177628317 | NEXN | c.1387A= (p.Ile463=) c.1195A= (p.Ile399=) c.1086A= n.847A= n.961A= c.1345A= (p.Ile449=) c.1251+2479A= (n.1251+2479A=) c.1153A= (p.Ile385=) c.970A= (p.Ile324=) | |
1 | g.77935958A>C | CA340879178 | NEXN | c.1387A>C (p.Ile463Leu) c.1195A>C (p.Ile399Leu) c.1086A>C n.847A>C n.961A>C c.1345A>C (p.Ile449Leu) c.1251+2479A>C (n.1251+2479A>C) c.1153A>C (p.Ile385Leu) c.970A>C (p.Ile324Leu) | |
1 | g.77935958A>G | CA340879179 | NEXN | c.1387A>G (p.Ile463Val) c.1195A>G (p.Ile399Val) c.1086A>G n.847A>G n.961A>G c.1345A>G (p.Ile449Val) c.1251+2479A>G (n.1251+2479A>G) c.1153A>G (p.Ile385Val) c.970A>G (p.Ile324Val) | dbSNP gnomAD v4 |
1 | g.77935958A>T | CA340879180 | NEXN | c.1387A>T (p.Ile463Leu) c.1195A>T (p.Ile399Leu) c.1086A>T n.847A>T n.961A>T c.1345A>T (p.Ile449Leu) c.1251+2479A>T (n.1251+2479A>T) c.1153A>T (p.Ile385Leu) c.970A>T (p.Ile324Leu) | |
1 | g.77935959T>A | CA340879182 | NEXN | c.1388T>A (p.Ile463Lys) c.1196T>A (p.Ile399Lys) c.1087T>A n.848T>A n.962T>A c.1346T>A (p.Ile449Lys) c.1251+2480T>A (n.1251+2480T>A) c.1154T>A (p.Ile385Lys) c.971T>A (p.Ile324Lys) | |
1 | g.77935959T>C | CA918868 | NEXN | c.1388T>C (p.Ile463Thr) c.1196T>C (p.Ile399Thr) c.1087T>C n.848T>C n.962T>C c.1346T>C (p.Ile449Thr) c.1251+2480T>C (n.1251+2480T>C) c.1154T>C (p.Ile385Thr) c.971T>C (p.Ile324Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77935959T>G | CA340879183 | NEXN | c.1388T>G (p.Ile463Arg) c.1196T>G (p.Ile399Arg) c.1087T>G n.848T>G n.962T>G c.1346T>G (p.Ile449Arg) c.1251+2480T>G (n.1251+2480T>G) c.1154T>G (p.Ile385Arg) c.971T>G (p.Ile324Arg) | |
1 | g.77935959T= | CA1177628318 | NEXN | c.1388T= (p.Ile463=) c.1196T= (p.Ile399=) c.1087T= n.848T= n.962T= c.1346T= (p.Ile449=) c.1251+2480T= (n.1251+2480T=) c.1154T= (p.Ile385=) c.971T= (p.Ile324=) | |
1 | g.77935960A>C | CA418709441 | NEXN | c.1389A>C (p.Ile463=) c.1197A>C (p.Ile399=) c.1088A>C n.849A>C n.963A>C c.1347A>C (p.Ile449=) c.1251+2481A>C (n.1251+2481A>C) c.1155A>C (p.Ile385=) c.972A>C (p.Ile324=) | |
1 | g.77935960A>G | CA340879184 | NEXN | c.1389A>G (p.Ile463Met) c.1197A>G (p.Ile399Met) c.1088A>G n.849A>G n.963A>G c.1347A>G (p.Ile449Met) c.1251+2481A>G (n.1251+2481A>G) c.1155A>G (p.Ile385Met) c.972A>G (p.Ile324Met) | gnomAD v4 |
1 | g.77935960A>T | CA418709442 | NEXN | c.1389A>T (p.Ile463=) c.1197A>T (p.Ile399=) c.1088A>T n.849A>T n.963A>T c.1347A>T (p.Ile449=) c.1251+2481A>T (n.1251+2481A>T) c.1155A>T (p.Ile385=) c.972A>T (p.Ile324=) | dbSNP |
1 | g.77935961del | CA2646274715 | NEXN | c.1390del (p.Gln464ArgfsTer4) c.1198del (p.Gln400ArgfsTer4) c.1089del n.850del n.964del c.1348del (p.Gln450ArgfsTer4) c.1251+2482del (n.1251+2482del) c.1156del (p.Gln386ArgfsTer4) c.973del (p.Gln325ArgfsTer4) | gnomAD v4 |
1 | g.77935961C>A | CA340879186 | NEXN | c.1390C>A (p.Gln464Lys) c.1198C>A (p.Gln400Lys) c.1089C>A n.850C>A n.964C>A c.1348C>A (p.Gln450Lys) c.1251+2482C>A (n.1251+2482C>A) c.1156C>A (p.Gln386Lys) c.973C>A (p.Gln325Lys) | |
1 | g.77935961C>G | CA340879188 | NEXN | c.1390C>G (p.Gln464Glu) c.1198C>G (p.Gln400Glu) c.1089C>G n.850C>G n.964C>G c.1348C>G (p.Gln450Glu) c.1251+2482C>G (n.1251+2482C>G) c.1156C>G (p.Gln386Glu) c.973C>G (p.Gln325Glu) | |
1 | g.77935961C>T | CA340879189 | NEXN | c.1390C>T (p.Gln464Ter) c.1198C>T (p.Gln400Ter) c.1089C>T n.850C>T n.964C>T c.1348C>T (p.Gln450Ter) c.1251+2482C>T (n.1251+2482C>T) c.1156C>T (p.Gln386Ter) c.973C>T (p.Gln325Ter) | ClinVar |
1 | g.77935962A>C | CA340879197 | NEXN | c.1391A>C (p.Gln464Pro) c.1199A>C (p.Gln400Pro) c.1090A>C n.851A>C n.965A>C c.1349A>C (p.Gln450Pro) c.1251+2483A>C (n.1251+2483A>C) c.1157A>C (p.Gln386Pro) c.974A>C (p.Gln325Pro) | |
1 | g.77935962A>G | CA340879196 | NEXN | c.1391A>G (p.Gln464Arg) c.1199A>G (p.Gln400Arg) c.1090A>G n.851A>G n.965A>G c.1349A>G (p.Gln450Arg) c.1251+2483A>G (n.1251+2483A>G) c.1157A>G (p.Gln386Arg) c.974A>G (p.Gln325Arg) | |
1 | g.77935962A>T | CA340879191 | NEXN | c.1391A>T (p.Gln464Leu) c.1199A>T (p.Gln400Leu) c.1090A>T n.851A>T n.965A>T c.1349A>T (p.Gln450Leu) c.1251+2483A>T (n.1251+2483A>T) c.1157A>T (p.Gln386Leu) c.974A>T (p.Gln325Leu) | |
1 | g.77935963G>A | CA418709443 | NEXN | c.1392G>A (p.Gln464=) c.1200G>A (p.Gln400=) c.1091G>A n.852G>A n.966G>A c.1350G>A (p.Gln450=) c.1251+2484G>A (n.1251+2484G>A) c.1158G>A (p.Gln386=) c.975G>A (p.Gln325=) | |
1 | g.77935963G>C | CA340879199 | NEXN | c.1392G>C (p.Gln464His) c.1200G>C (p.Gln400His) c.1091G>C n.852G>C n.966G>C c.1350G>C (p.Gln450His) c.1251+2484G>C (n.1251+2484G>C) c.1158G>C (p.Gln386His) c.975G>C (p.Gln325His) | gnomAD v4 |
1 | g.77935963G>T | CA340879200 | NEXN | c.1392G>T (p.Gln464His) c.1200G>T (p.Gln400His) c.1091G>T n.852G>T n.966G>T c.1350G>T (p.Gln450His) c.1251+2484G>T (n.1251+2484G>T) c.1158G>T (p.Gln386His) c.975G>T (p.Gln325His) | |
1 | g.77935963_77935964delinsGA | CA1177628319 | NEXN | c.1392_1393delinsGA (p.Gln464=) c.1200_1201delinsGA (p.Gln400=) c.1091_1092delinsGA n.852_853delinsGA n.966_967delinsGA c.1350_1351delinsGA (p.Gln450=) c.1251+2484_1251+2485delinsGA (n.1251+2484_1251+2485delinsGA) c.1158_1159delinsGA (p.Gln386=) c.975_976delinsGA (p.Gln325=) | |
1 | g.77935964A>C | CA340879202 | NEXN | c.1393A>C (p.Lys465Gln) c.1201A>C (p.Lys401Gln) c.1092A>C n.853A>C n.967A>C c.1351A>C (p.Lys451Gln) c.1251+2485A>C (n.1251+2485A>C) c.1159A>C (p.Lys387Gln) c.976A>C (p.Lys326Gln) | |
1 | g.77935964A>G | CA340879203 | NEXN | c.1393A>G (p.Lys465Glu) c.1201A>G (p.Lys401Glu) c.1092A>G n.853A>G n.967A>G c.1351A>G (p.Lys451Glu) c.1251+2485A>G (n.1251+2485A>G) c.1159A>G (p.Lys387Glu) c.976A>G (p.Lys326Glu) | |
1 | g.77935964A>T | CA340879204 | NEXN | c.1393A>T (p.Lys465Ter) c.1201A>T (p.Lys401Ter) c.1092A>T n.853A>T n.967A>T c.1351A>T (p.Lys451Ter) c.1251+2485A>T (n.1251+2485A>T) c.1159A>T (p.Lys387Ter) c.976A>T (p.Lys326Ter) | |
1 | g.77935970dup | CA2573132568 | NEXN | c.1399dup (p.Ile467AsnfsTer12) c.1207dup (p.Ile403AsnfsTer12) c.1098dup n.973dup c.1357dup (p.Ile453AsnfsTer12) c.1251+2491dup (n.1251+2491dup) c.1165dup (p.Ile389AsnfsTer12) c.982dup (p.Ile328AsnfsTer12) | ClinVar dbSNP gnomAD v4 |
1 | g.77935970del | CA524231039 | NEXN | c.1399del (p.Ile467Ter) c.1207del (p.Ile403Ter) c.1098del n.859del n.973del c.1357del (p.Ile453Ter) c.1251+2491del (n.1251+2491del) c.1165del (p.Ile389Ter) c.982del (p.Ile328Ter) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.77935965A>C | CA340879205 | NEXN | c.1394A>C (p.Lys465Thr) c.1202A>C (p.Lys401Thr) c.1093A>C n.854A>C n.968A>C c.1352A>C (p.Lys451Thr) c.1251+2486A>C (n.1251+2486A>C) c.1160A>C (p.Lys387Thr) c.977A>C (p.Lys326Thr) | |
1 | g.77935965A>G | CA340879206 | NEXN | c.1394A>G (p.Lys465Arg) c.1202A>G (p.Lys401Arg) c.1093A>G n.854A>G n.968A>G c.1352A>G (p.Lys451Arg) c.1251+2486A>G (n.1251+2486A>G) c.1160A>G (p.Lys387Arg) c.977A>G (p.Lys326Arg) | |
1 | g.77935965A>T | CA340879208 | NEXN | c.1394A>T (p.Lys465Ile) c.1202A>T (p.Lys401Ile) c.1093A>T n.854A>T n.968A>T c.1352A>T (p.Lys451Ile) c.1251+2486A>T (n.1251+2486A>T) c.1160A>T (p.Lys387Ile) c.977A>T (p.Lys326Ile) | |
1 | g.77935966A>C | CA340879209 | NEXN | c.1395A>C (p.Lys465Asn) c.1203A>C (p.Lys401Asn) c.1094A>C n.855A>C n.969A>C c.1353A>C (p.Lys451Asn) c.1251+2487A>C (n.1251+2487A>C) c.1161A>C (p.Lys387Asn) c.978A>C (p.Lys326Asn) | gnomAD v4 |
1 | g.77935966A>G | CA418709444 | NEXN | c.1395A>G (p.Lys465=) c.1203A>G (p.Lys401=) c.1094A>G n.855A>G n.969A>G c.1353A>G (p.Lys451=) c.1251+2487A>G (n.1251+2487A>G) c.1161A>G (p.Lys387=) c.978A>G (p.Lys326=) | |
1 | g.77935966A>T | CA340879210 | NEXN | c.1395A>T (p.Lys465Asn) c.1203A>T (p.Lys401Asn) c.1094A>T n.855A>T n.969A>T c.1353A>T (p.Lys451Asn) c.1251+2487A>T (n.1251+2487A>T) c.1161A>T (p.Lys387Asn) c.978A>T (p.Lys326Asn) | |
1 | g.77935967A= | CA1177628320 | NEXN | c.1396A= (p.Lys466=) c.1204A= (p.Lys402=) c.1095A= n.856A= n.970A= c.1354A= (p.Lys452=) c.1251+2488A= (n.1251+2488A=) c.1162A= (p.Lys388=) c.979A= (p.Lys327=) | |
1 | g.77935967A>C | CA340879211 | NEXN | c.1396A>C (p.Lys466Gln) c.1204A>C (p.Lys402Gln) c.1095A>C n.856A>C n.970A>C c.1354A>C (p.Lys452Gln) c.1251+2488A>C (n.1251+2488A>C) c.1162A>C (p.Lys388Gln) c.979A>C (p.Lys327Gln) | dbSNP |
1 | g.77935967A>G | CA340879213 | NEXN | c.1396A>G (p.Lys466Glu) c.1204A>G (p.Lys402Glu) c.1095A>G n.856A>G n.970A>G c.1354A>G (p.Lys452Glu) c.1251+2488A>G (n.1251+2488A>G) c.1162A>G (p.Lys388Glu) c.979A>G (p.Lys327Glu) | |
1 | g.77935967A>T | CA340879214 | NEXN | c.1396A>T (p.Lys466Ter) c.1204A>T (p.Lys402Ter) c.1095A>T n.856A>T n.970A>T c.1354A>T (p.Lys452Ter) c.1251+2488A>T (n.1251+2488A>T) c.1162A>T (p.Lys388Ter) c.979A>T (p.Lys327Ter) | |
1 | g.77935968A>C | CA340879217 | NEXN | c.1397A>C (p.Lys466Thr) c.1205A>C (p.Lys402Thr) c.1096A>C n.857A>C n.971A>C c.1355A>C (p.Lys452Thr) c.1251+2489A>C (n.1251+2489A>C) c.1163A>C (p.Lys388Thr) c.980A>C (p.Lys327Thr) | |
1 | g.77935968A>G | CA340879220 | NEXN | c.1397A>G (p.Lys466Arg) c.1205A>G (p.Lys402Arg) c.1096A>G n.857A>G n.971A>G c.1355A>G (p.Lys452Arg) c.1251+2489A>G (n.1251+2489A>G) c.1163A>G (p.Lys388Arg) c.980A>G (p.Lys327Arg) | |
1 | g.77935968A>T | CA340879218 | NEXN | c.1397A>T (p.Lys466Ile) c.1205A>T (p.Lys402Ile) c.1096A>T n.857A>T n.971A>T c.1355A>T (p.Lys452Ile) c.1251+2489A>T (n.1251+2489A>T) c.1163A>T (p.Lys388Ile) c.980A>T (p.Lys327Ile) | |
1 | g.77935969A>C | CA340879224 | NEXN | c.1398A>C (p.Lys466Asn) c.1206A>C (p.Lys402Asn) c.1097A>C n.858A>C n.972A>C c.1356A>C (p.Lys452Asn) c.1251+2490A>C (n.1251+2490A>C) c.1164A>C (p.Lys388Asn) c.981A>C (p.Lys327Asn) | |
1 | g.77935969A>G | CA418709445 | NEXN | c.1398A>G (p.Lys466=) c.1206A>G (p.Lys402=) c.1097A>G n.858A>G n.972A>G c.1356A>G (p.Lys452=) c.1251+2490A>G (n.1251+2490A>G) c.1164A>G (p.Lys388=) c.981A>G (p.Lys327=) | dbSNP |
1 | g.77935969A>T | CA340879225 | NEXN | c.1398A>T (p.Lys466Asn) c.1206A>T (p.Lys402Asn) c.1097A>T n.858A>T n.972A>T c.1356A>T (p.Lys452Asn) c.1251+2490A>T (n.1251+2490A>T) c.1164A>T (p.Lys388Asn) c.981A>T (p.Lys327Asn) | |
1 | g.77935970_77935972del | CA2586966785 | NEXN | c.1399_1401del (p.Ile467del) c.1207_1209del (p.Ile403del) c.1098_1100del n.973_975del c.1357_1359del (p.Ile453del) c.1251+2491_1251+2493del (n.1251+2491_1251+2493del) c.1165_1167del (p.Ile389del) c.982_984del (p.Ile328del) | |
1 | g.77935970A>C | CA340879230 | NEXN | c.1399A>C (p.Ile467Leu) c.1207A>C (p.Ile403Leu) c.1098A>C n.859A>C n.973A>C c.1357A>C (p.Ile453Leu) c.1251+2491A>C (n.1251+2491A>C) c.1165A>C (p.Ile389Leu) c.982A>C (p.Ile328Leu) | |
1 | g.77935970A>G | CA340879232 | NEXN | c.1399A>G (p.Ile467Val) c.1207A>G (p.Ile403Val) c.1098A>G n.859A>G n.973A>G c.1357A>G (p.Ile453Val) c.1251+2491A>G (n.1251+2491A>G) c.1165A>G (p.Ile389Val) c.982A>G (p.Ile328Val) | |
1 | g.77935970A>T | CA340879234 | NEXN | c.1399A>T (p.Ile467Leu) c.1207A>T (p.Ile403Leu) c.1098A>T n.859A>T n.973A>T c.1357A>T (p.Ile453Leu) c.1251+2491A>T (n.1251+2491A>T) c.1165A>T (p.Ile389Leu) c.982A>T (p.Ile328Leu) | |
1 | g.77935970_77935973delinsATAG | CA1177628321 | NEXN | c.1399_1402delinsATAG (p.Ile467=) c.1207_1210delinsATAG (p.Ile403=) c.1098_1101delinsATAG n.973_976delinsATAG c.1357_1360delinsATAG (p.Ile453=) c.1251+2491_1251+2494delinsATAG (n.1251+2491_1251+2494delinsATAG) c.1165_1168delinsATAG (p.Ile389=) c.982_985delinsATAG (p.Ile328=) | |
1 | g.77935971del | CA2580063265 | NEXN | c.1400del (p.Ile467LysfsTer?) c.1208del (p.Ile403LysfsTer?) c.1099del n.974del c.1358del (p.Ile453LysfsTer?) c.1251+2492del (n.1251+2492del) c.1166del (p.Ile389LysfsTer?) c.983del (p.Ile328LysfsTer?) | ClinVar gnomAD v4 |
1 | g.77935971T>A | CA340879235 | NEXN | c.1400T>A (p.Ile467Lys) c.1208T>A (p.Ile403Lys) c.1099T>A n.974T>A c.1358T>A (p.Ile453Lys) c.1251+2492T>A (n.1251+2492T>A) c.1166T>A (p.Ile389Lys) c.983T>A (p.Ile328Lys) | |
1 | g.77935971T>C | CA076791 | NEXN | c.1400T>C (p.Ile467Thr) c.1208T>C (p.Ile403Thr) c.1099T>C n.974T>C c.1358T>C (p.Ile453Thr) c.1251+2492T>C (n.1251+2492T>C) c.1166T>C (p.Ile389Thr) c.983T>C (p.Ile328Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77935971T>G | CA340879241 | NEXN | c.1400T>G (p.Ile467Arg) c.1208T>G (p.Ile403Arg) c.1099T>G n.974T>G c.1358T>G (p.Ile453Arg) c.1251+2492T>G (n.1251+2492T>G) c.1166T>G (p.Ile389Arg) c.983T>G (p.Ile328Arg) | |
1 | g.77935971T= | CA1143713865 | NEXN | c.1400T= (p.Ile467=) c.1208T= (p.Ile403=) c.1099T= n.974T= c.1358T= (p.Ile453=) c.1251+2492T= (n.1251+2492T=) c.1166T= (p.Ile389=) c.983T= (p.Ile328=) | |
1 | g.77935971_77935973del | CA1177628323 | NEXN | c.1400_1402del (p.Ile467_Glu468delinsLys) c.1208_1210del (p.Ile403_Glu404delinsLys) c.1099_1101del n.974_976del c.1358_1360del (p.Ile453_Glu454delinsLys) c.1251+2492_1251+2494del (n.1251+2492_1251+2494del) c.1166_1168del (p.Ile389_Glu390delinsLys) c.983_985del (p.Ile328_Glu329delinsLys) | dbSNP |
1 | g.77935971_77935974delinsTAGA | CA1177628322 | NEXN | c.1400_1403delinsTAGA (p.Ile467=) c.1208_1211delinsTAGA (p.Ile403=) c.1099_1102delinsTAGA n.974_977delinsTAGA c.1358_1361delinsTAGA (p.Ile453=) c.1251+2492_1251+2495delinsTAGA (n.1251+2492_1251+2495delinsTAGA) c.1166_1169delinsTAGA (p.Ile389=) c.983_986delinsTAGA (p.Ile328=) | |
1 | g.77935971_77935972insTA | CA2842731361 | NEXN | c.1400_1401insTA (p.Glu468LysfsTer?) c.1208_1209insTA (p.Glu404LysfsTer?) c.1099_1100insTA n.974_975insTA c.1358_1359insTA (p.Glu454LysfsTer?) c.1251+2492_1251+2493insTA (n.1251+2492_1251+2493insTA) c.1166_1167insTA (p.Glu390LysfsTer?) c.983_984insTA (p.Glu329LysfsTer?) | |
1 | g.77935972A= | CA1177628325 | NEXN | c.1401A= (p.Ile467=) c.1209A= (p.Ile403=) c.1100A= n.975A= c.1359A= (p.Ile453=) c.1251+2493A= (n.1251+2493A=) c.1167A= (p.Ile389=) c.984A= (p.Ile328=) | |
1 | g.77935972A>C | CA418709446 | NEXN | c.1401A>C (p.Ile467=) c.1209A>C (p.Ile403=) c.1100A>C n.975A>C c.1359A>C (p.Ile453=) c.1251+2493A>C (n.1251+2493A>C) c.1167A>C (p.Ile389=) c.984A>C (p.Ile328=) | |
1 | g.77935972A>G | CA340879243 | NEXN | c.1401A>G (p.Ile467Met) c.1209A>G (p.Ile403Met) c.1100A>G n.975A>G c.1359A>G (p.Ile453Met) c.1251+2493A>G (n.1251+2493A>G) c.1167A>G (p.Ile389Met) c.984A>G (p.Ile328Met) | |
1 | g.77935972A>T | CA418709447 | NEXN | c.1401A>T (p.Ile467=) c.1209A>T (p.Ile403=) c.1100A>T n.975A>T c.1359A>T (p.Ile453=) c.1251+2493A>T (n.1251+2493A>T) c.1167A>T (p.Ile389=) c.984A>T (p.Ile328=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
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.77935973G>A | CA340879248 | NEXN | c.1402G>A (p.Glu468Lys) c.1210G>A (p.Glu404Lys) c.1101G>A n.976G>A c.1360G>A (p.Glu454Lys) c.1251+2494G>A (n.1251+2494G>A) c.1168G>A (p.Glu390Lys) c.985G>A (p.Glu329Lys) | gnomAD v4 |
1 | g.77935973G>C | CA340879247 | NEXN | c.1402G>C (p.Glu468Gln) c.1210G>C (p.Glu404Gln) c.1101G>C n.976G>C c.1360G>C (p.Glu454Gln) c.1251+2494G>C (n.1251+2494G>C) c.1168G>C (p.Glu390Gln) c.985G>C (p.Glu329Gln) | gnomAD v4 |
1 | g.77935973G>T | CA340879245 | NEXN | c.1402G>T (p.Glu468Ter) c.1210G>T (p.Glu404Ter) c.1101G>T n.976G>T c.1360G>T (p.Glu454Ter) c.1251+2494G>T (n.1251+2494G>T) c.1168G>T (p.Glu390Ter) c.985G>T (p.Glu329Ter) | |
1 | g.77935974A= | CA1177628326 | NEXN | c.1403A= (p.Glu468=) c.1211A= (p.Glu404=) c.1102A= n.977A= c.1361A= (p.Glu454=) c.1251+2495A= (n.1251+2495A=) c.1169A= (p.Glu390=) c.986A= (p.Glu329=) | |
1 | g.77935974A>C | CA340879249 | NEXN | c.1403A>C (p.Glu468Ala) c.1211A>C (p.Glu404Ala) c.1102A>C n.977A>C c.1361A>C (p.Glu454Ala) c.1251+2495A>C (n.1251+2495A>C) c.1169A>C (p.Glu390Ala) c.986A>C (p.Glu329Ala) | |
1 | g.77935974A>G | CA340879250 | NEXN | c.1403A>G (p.Glu468Gly) c.1211A>G (p.Glu404Gly) c.1102A>G n.977A>G c.1361A>G (p.Glu454Gly) c.1251+2495A>G (n.1251+2495A>G) c.1169A>G (p.Glu390Gly) c.986A>G (p.Glu329Gly) | |
1 | g.77935974A>T | CA340879251 | NEXN | c.1403A>T (p.Glu468Val) c.1211A>T (p.Glu404Val) c.1102A>T n.977A>T c.1361A>T (p.Glu454Val) c.1251+2495A>T (n.1251+2495A>T) c.1169A>T (p.Glu390Val) c.986A>T (p.Glu329Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.77935975A= | CA1177628327 | NEXN | c.1404A= (p.Glu468=) c.1212A= (p.Glu404=) c.1103A= n.978A= c.1362A= (p.Glu454=) c.1251+2496A= (n.1251+2496A=) c.1170A= (p.Glu390=) c.987A= (p.Glu329=) | |
1 | g.77935975A>C | CA340879252 | NEXN | c.1404A>C (p.Glu468Asp) c.1212A>C (p.Glu404Asp) c.1103A>C n.978A>C c.1362A>C (p.Glu454Asp) c.1251+2496A>C (n.1251+2496A>C) c.1170A>C (p.Glu390Asp) c.987A>C (p.Glu329Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.77935975A>G | CA418709449 | NEXN | c.1404A>G (p.Glu468=) c.1212A>G (p.Glu404=) c.1103A>G n.978A>G c.1362A>G (p.Glu454=) c.1251+2496A>G (n.1251+2496A>G) c.1170A>G (p.Glu390=) c.987A>G (p.Glu329=) | gnomAD v4 |
1 | g.77935975A>T | CA340879253 | NEXN | c.1404A>T (p.Glu468Asp) c.1212A>T (p.Glu404Asp) c.1103A>T n.978A>T c.1362A>T (p.Glu454Asp) c.1251+2496A>T (n.1251+2496A>T) c.1170A>T (p.Glu390Asp) c.987A>T (p.Glu329Asp) |