Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
1 | g.77935976G>A | CA340879254 | NEXN | c.1405G>A (p.Glu469Lys) c.1213G>A (p.Glu405Lys) c.1104G>A n.979G>A c.1363G>A (p.Glu455Lys) c.1251+2497G>A (n.1251+2497G>A) c.1171G>A (p.Glu391Lys) c.988G>A (p.Glu330Lys) | gnomAD v4 |
1 | g.77935976G>C | CA340879255 | NEXN | c.1405G>C (p.Glu469Gln) c.1213G>C (p.Glu405Gln) c.1104G>C n.979G>C c.1363G>C (p.Glu455Gln) c.1251+2497G>C (n.1251+2497G>C) c.1171G>C (p.Glu391Gln) c.988G>C (p.Glu330Gln) | |
1 | g.77935976G>T | CA340879256 | NEXN | c.1405G>T (p.Glu469Ter) c.1213G>T (p.Glu405Ter) c.1104G>T n.979G>T c.1363G>T (p.Glu455Ter) c.1251+2497G>T (n.1251+2497G>T) c.1171G>T (p.Glu391Ter) c.988G>T (p.Glu330Ter) | |
1 | g.77935977A>C | CA340879258 | NEXN | c.1406A>C (p.Glu469Ala) c.1214A>C (p.Glu405Ala) c.1105A>C n.980A>C c.1364A>C (p.Glu455Ala) c.1251+2498A>C (n.1251+2498A>C) c.1172A>C (p.Glu391Ala) c.989A>C (p.Glu330Ala) | |
1 | g.77935977A>G | CA340879261 | NEXN | c.1406A>G (p.Glu469Gly) c.1214A>G (p.Glu405Gly) c.1105A>G n.980A>G c.1364A>G (p.Glu455Gly) c.1251+2498A>G (n.1251+2498A>G) c.1172A>G (p.Glu391Gly) c.989A>G (p.Glu330Gly) | |
1 | g.77935977A>T | CA340879262 | NEXN | c.1406A>T (p.Glu469Val) c.1214A>T (p.Glu405Val) c.1105A>T n.980A>T c.1364A>T (p.Glu455Val) c.1251+2498A>T (n.1251+2498A>T) c.1172A>T (p.Glu391Val) c.989A>T (p.Glu330Val) | |
1 | g.77935978A>C | CA340879263 | NEXN | c.1407A>C (p.Glu469Asp) c.1215A>C (p.Glu405Asp) c.1106A>C n.981A>C c.1365A>C (p.Glu455Asp) c.1251+2499A>C (n.1251+2499A>C) c.1173A>C (p.Glu391Asp) c.990A>C (p.Glu330Asp) | ClinVar |
1 | g.77935978A>G | CA418709452 | NEXN | c.1407A>G (p.Glu469=) c.1215A>G (p.Glu405=) c.1106A>G n.981A>G c.1365A>G (p.Glu455=) c.1251+2499A>G (n.1251+2499A>G) c.1173A>G (p.Glu391=) c.990A>G (p.Glu330=) | gnomAD v4 |
1 | g.77935978A>T | CA340879264 | NEXN | c.1407A>T (p.Glu469Asp) c.1215A>T (p.Glu405Asp) c.1106A>T n.981A>T c.1365A>T (p.Glu455Asp) c.1251+2499A>T (n.1251+2499A>T) c.1173A>T (p.Glu391Asp) c.990A>T (p.Glu330Asp) | |
1 | g.77935978delinsGC | CA2580063267 | NEXN | c.1407delinsGC (p.Glu470ArgfsTer9) c.1215delinsGC (p.Glu406ArgfsTer9) c.1106delinsGC n.981delinsGC c.1365delinsGC (p.Glu456ArgfsTer9) c.1251+2499delinsGC (n.1251+2499delinsGC) c.1173delinsGC (p.Glu392ArgfsTer9) c.990delinsGC (p.Glu331ArgfsTer9) | ClinVar |
1 | g.77935979G>A | CA340879269 | NEXN | c.1408G>A (p.Glu470Lys) c.1216G>A (p.Glu406Lys) c.1107G>A n.982G>A c.1366G>A (p.Glu456Lys) c.1251+2500G>A (n.1251+2500G>A) c.1174G>A (p.Glu392Lys) c.991G>A (p.Glu331Lys) | dbSNP gnomAD v4 |
1 | g.77935979G>C | CA181124 | NEXN | c.1408G>C (p.Glu470Gln) c.1216G>C (p.Glu406Gln) c.1107G>C n.982G>C c.1366G>C (p.Glu456Gln) c.1251+2500G>C (n.1251+2500G>C) c.1174G>C (p.Glu392Gln) c.991G>C (p.Glu331Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77935979G= | CA1140567794 | NEXN | c.1408G= (p.Glu470=) c.1216G= (p.Glu406=) c.1107G= n.982G= c.1366G= (p.Glu456=) c.1251+2500G= (n.1251+2500G=) c.1174G= (p.Glu392=) c.991G= (p.Glu331=) | |
1 | g.77935979G>T | CA340879267 | NEXN | c.1408G>T (p.Glu470Ter) c.1216G>T (p.Glu406Ter) c.1107G>T n.982G>T c.1366G>T (p.Glu456Ter) c.1251+2500G>T (n.1251+2500G>T) c.1174G>T (p.Glu392Ter) c.991G>T (p.Glu331Ter) | gnomAD v4 |
1 | g.77935983_77935986del | CA2542462886 | NEXN | c.1412_1415del (p.Arg471GlnfsTer?) c.1220_1223del (p.Arg407GlnfsTer?) c.1111_1114del n.986_989del c.1370_1373del (p.Arg457GlnfsTer?) c.1251+2504_1251+2507del (n.1251+2504_1251+2507del) c.1178_1181del (p.Arg393GlnfsTer?) c.995_998del (p.Arg332GlnfsTer?) | gnomAD v4 |
1 | g.77935980A= | CA1177628328 | NEXN | c.1409A= (p.Glu470=) c.1217A= (p.Glu406=) c.1108A= n.983A= c.1367A= (p.Glu456=) c.1251+2501A= (n.1251+2501A=) c.1175A= (p.Glu392=) c.992A= (p.Glu331=) | |
1 | g.77935980A>C | CA918869 | NEXN | c.1409A>C (p.Glu470Ala) c.1217A>C (p.Glu406Ala) c.1108A>C n.983A>C c.1367A>C (p.Glu456Ala) c.1251+2501A>C (n.1251+2501A>C) c.1175A>C (p.Glu392Ala) c.992A>C (p.Glu331Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.77935980A>G | CA340879270 | NEXN | c.1409A>G (p.Glu470Gly) c.1217A>G (p.Glu406Gly) c.1108A>G n.983A>G c.1367A>G (p.Glu456Gly) c.1251+2501A>G (n.1251+2501A>G) c.1175A>G (p.Glu392Gly) c.992A>G (p.Glu331Gly) | |
1 | g.77935980A>T | CA340879271 | NEXN | c.1409A>T (p.Glu470Val) c.1217A>T (p.Glu406Val) c.1108A>T n.983A>T c.1367A>T (p.Glu456Val) c.1251+2501A>T (n.1251+2501A>T) c.1175A>T (p.Glu392Val) c.992A>T (p.Glu331Val) | |
1 | g.77935981G>A | CA418709457 | NEXN | c.1410G>A (p.Glu470=) c.1218G>A (p.Glu406=) c.1109G>A n.984G>A c.1368G>A (p.Glu456=) c.1251+2502G>A (n.1251+2502G>A) c.1176G>A (p.Glu392=) c.993G>A (p.Glu331=) | dbSNP |
1 | g.77935981G>C | CA340879272 | NEXN | c.1410G>C (p.Glu470Asp) c.1218G>C (p.Glu406Asp) c.1109G>C n.984G>C c.1368G>C (p.Glu456Asp) c.1251+2502G>C (n.1251+2502G>C) c.1176G>C (p.Glu392Asp) c.993G>C (p.Glu331Asp) | |
1 | g.77935981G>T | CA340879273 | NEXN | c.1410G>T (p.Glu470Asp) c.1218G>T (p.Glu406Asp) c.1109G>T n.984G>T c.1368G>T (p.Glu456Asp) c.1251+2502G>T (n.1251+2502G>T) c.1176G>T (p.Glu392Asp) c.993G>T (p.Glu331Asp) | |
1 | g.77935982C>A | CA418709460 | NEXN | c.1411C>A (p.Arg471=) c.1219C>A (p.Arg407=) c.1110C>A n.985C>A c.1369C>A (p.Arg457=) c.1251+2503C>A (n.1251+2503C>A) c.1177C>A (p.Arg393=) c.994C>A (p.Arg332=) | ClinVar gnomAD v4 |
1 | g.77935982C= | CA1177628329 | NEXN | c.1411C= (p.Arg471=) c.1219C= (p.Arg407=) c.1110C= n.985C= c.1369C= (p.Arg457=) c.1251+2503C= (n.1251+2503C=) c.1177C= (p.Arg393=) c.994C= (p.Arg332=) | |
1 | g.77935982C>G | CA340879274 | NEXN | c.1411C>G (p.Arg471Gly) c.1219C>G (p.Arg407Gly) c.1110C>G n.985C>G c.1369C>G (p.Arg457Gly) c.1251+2503C>G (n.1251+2503C>G) c.1177C>G (p.Arg393Gly) c.994C>G (p.Arg332Gly) | |
1 | g.77935982C>T | CA918870 | NEXN | c.1411C>T (p.Arg471Ter) c.1219C>T (p.Arg407Ter) c.1110C>T n.985C>T c.1369C>T (p.Arg457Ter) c.1251+2503C>T (n.1251+2503C>T) c.1177C>T (p.Arg393Ter) c.994C>T (p.Arg332Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77935983G>A | CA918871 | NEXN | c.1412G>A (p.Arg471Gln) c.1220G>A (p.Arg407Gln) c.1111G>A n.986G>A c.1370G>A (p.Arg457Gln) c.1251+2504G>A (n.1251+2504G>A) c.1178G>A (p.Arg393Gln) c.995G>A (p.Arg332Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.77935983G>C | CA340879277 | NEXN | c.1412G>C (p.Arg471Pro) c.1220G>C (p.Arg407Pro) c.1111G>C n.986G>C c.1370G>C (p.Arg457Pro) c.1251+2504G>C (n.1251+2504G>C) c.1178G>C (p.Arg393Pro) c.995G>C (p.Arg332Pro) | |
1 | g.77935983G= | CA1148411205 | NEXN | c.1412G= (p.Arg471=) c.1220G= (p.Arg407=) c.1111G= n.986G= c.1370G= (p.Arg457=) c.1251+2504G= (n.1251+2504G=) c.1178G= (p.Arg393=) c.995G= (p.Arg332=) | |
1 | g.77935983G>T | CA918872 | NEXN | c.1412G>T (p.Arg471Leu) c.1220G>T (p.Arg407Leu) c.1111G>T n.986G>T c.1370G>T (p.Arg457Leu) c.1251+2504G>T (n.1251+2504G>T) c.1178G>T (p.Arg393Leu) c.995G>T (p.Arg332Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.77935984A= | CA1177628330 | NEXN | c.1413A= (p.Arg471=) c.1221A= (p.Arg407=) c.1112A= n.987A= c.1371A= (p.Arg457=) c.1251+2505A= (n.1251+2505A=) c.1179A= (p.Arg393=) c.996A= (p.Arg332=) | |
1 | g.77935984A>C | CA418709463 | NEXN | c.1413A>C (p.Arg471=) c.1221A>C (p.Arg407=) c.1112A>C n.987A>C c.1371A>C (p.Arg457=) c.1251+2505A>C (n.1251+2505A>C) c.1179A>C (p.Arg393=) c.996A>C (p.Arg332=) | |
1 | g.77935984A>G | CA918873 | NEXN | c.1413A>G (p.Arg471=) c.1221A>G (p.Arg407=) c.1112A>G n.987A>G c.1371A>G (p.Arg457=) c.1251+2505A>G (n.1251+2505A>G) c.1179A>G (p.Arg393=) c.996A>G (p.Arg332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.77935984A>T | CA418709464 | NEXN | c.1413A>T (p.Arg471=) c.1221A>T (p.Arg407=) c.1112A>T n.987A>T c.1371A>T (p.Arg457=) c.1251+2505A>T (n.1251+2505A>T) c.1179A>T (p.Arg393=) c.996A>T (p.Arg332=) | |
1 | g.77935985G>A | CA24686664 | NEXN | c.1414G>A (p.Ala472Thr) c.1222G>A (p.Ala408Thr) c.1113G>A n.988G>A c.1372G>A (p.Ala458Thr) c.1251+2506G>A (n.1251+2506G>A) c.1180G>A (p.Ala394Thr) c.997G>A (p.Ala333Thr) | dbSNP |
1 | g.77935985G>C | CA340879287 | NEXN | c.1414G>C (p.Ala472Pro) c.1222G>C (p.Ala408Pro) c.1113G>C n.988G>C c.1372G>C (p.Ala458Pro) c.1251+2506G>C (n.1251+2506G>C) c.1180G>C (p.Ala394Pro) c.997G>C (p.Ala333Pro) | |
1 | g.77935985G= | CA1143959920 | NEXN | c.1414G= (p.Ala472=) c.1222G= (p.Ala408=) c.1113G= n.988G= c.1372G= (p.Ala458=) c.1251+2506G= (n.1251+2506G=) c.1180G= (p.Ala394=) c.997G= (p.Ala333=) | |
1 | g.77935985G>T | CA340879281 | NEXN | c.1414G>T (p.Ala472Ser) c.1222G>T (p.Ala408Ser) c.1113G>T n.988G>T c.1372G>T (p.Ala458Ser) c.1251+2506G>T (n.1251+2506G>T) c.1180G>T (p.Ala394Ser) c.997G>T (p.Ala333Ser) | |
1 | g.77935986C>A | CA340879290 | NEXN | c.1415C>A (p.Ala472Glu) c.1223C>A (p.Ala408Glu) c.1114C>A n.989C>A c.1373C>A (p.Ala458Glu) c.1251+2507C>A (n.1251+2507C>A) c.1181C>A (p.Ala394Glu) c.998C>A (p.Ala333Glu) | |
1 | g.77935986C= | CA1145181105 | NEXN | c.1415C= (p.Ala472=) c.1223C= (p.Ala408=) c.1114C= n.989C= c.1373C= (p.Ala458=) c.1251+2507C= (n.1251+2507C=) c.1181C= (p.Ala394=) c.998C= (p.Ala333=) | |
1 | g.77935986C>G | CA918874 | NEXN | c.1415C>G (p.Ala472Gly) c.1223C>G (p.Ala408Gly) c.1114C>G n.989C>G c.1373C>G (p.Ala458Gly) c.1251+2507C>G (n.1251+2507C>G) c.1181C>G (p.Ala394Gly) c.998C>G (p.Ala333Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77935986C>T | CA340879291 | NEXN | c.1415C>T (p.Ala472Val) c.1223C>T (p.Ala408Val) c.1114C>T n.989C>T c.1373C>T (p.Ala458Val) c.1251+2507C>T (n.1251+2507C>T) c.1181C>T (p.Ala394Val) c.998C>T (p.Ala333Val) | gnomAD v4 |
1 | g.77935986_77935989delinsCAAG | CA1177628331 | NEXN | c.1415_1418delinsCAAG (p.Ala472=) c.1223_1226delinsCAAG (p.Ala408=) c.1114_1117delinsCAAG n.989_992delinsCAAG c.1373_1376delinsCAAG (p.Ala458=) c.1251+2507_1251+2510delinsCAAG (n.1251+2507_1251+2510delinsCAAG) c.1181_1184delinsCAAG (p.Ala394=) c.998_1001delinsCAAG (p.Ala333=) | |
1 | g.77935987A>C | CA418709471 | NEXN | c.1416A>C (p.Ala472=) c.1224A>C (p.Ala408=) c.1115A>C n.990A>C c.1374A>C (p.Ala458=) c.1251+2508A>C (n.1251+2508A>C) c.1182A>C (p.Ala394=) c.999A>C (p.Ala333=) | |
1 | g.77935987A>G | CA418709468 | NEXN | c.1416A>G (p.Ala472=) c.1224A>G (p.Ala408=) c.1115A>G n.990A>G c.1374A>G (p.Ala458=) c.1251+2508A>G (n.1251+2508A>G) c.1182A>G (p.Ala394=) c.999A>G (p.Ala333=) | |
1 | g.77935987A>T | CA418709469 | NEXN | c.1416A>T (p.Ala472=) c.1224A>T (p.Ala408=) c.1115A>T n.990A>T c.1374A>T (p.Ala458=) c.1251+2508A>T (n.1251+2508A>T) c.1182A>T (p.Ala394=) c.999A>T (p.Ala333=) | |
1 | g.77935990_77935992del | CA335456 | NEXN | c.1419_1421del (p.Arg474del) c.1227_1229del (p.Arg410del) c.1118_1120del n.993_995del c.1377_1379del (p.Arg460del) c.1251+2511_1251+2513del (n.1251+2511_1251+2513del) c.1185_1187del (p.Arg396del) c.1002_1004del (p.Arg335del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77935988A= | CA1177628332 | NEXN | c.1417A= (p.Arg473=) c.1225A= (p.Arg409=) c.1116A= n.991A= c.1375A= (p.Arg459=) c.1251+2509A= (n.1251+2509A=) c.1183A= (p.Arg395=) c.1000A= (p.Arg334=) | |
1 | g.77935988A>C | CA418709472 | NEXN | c.1417A>C (p.Arg473=) c.1225A>C (p.Arg409=) c.1116A>C n.991A>C c.1375A>C (p.Arg459=) c.1251+2509A>C (n.1251+2509A>C) c.1183A>C (p.Arg395=) c.1000A>C (p.Arg334=) | |
1 | g.77935988A>G | CA340879297 | NEXN | c.1417A>G (p.Arg473Gly) c.1225A>G (p.Arg409Gly) c.1116A>G n.991A>G c.1375A>G (p.Arg459Gly) c.1251+2509A>G (n.1251+2509A>G) c.1183A>G (p.Arg395Gly) c.1000A>G (p.Arg334Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77935988A>T | CA340879298 | NEXN | c.1417A>T (p.Arg473Ter) c.1225A>T (p.Arg409Ter) c.1116A>T n.991A>T c.1375A>T (p.Arg459Ter) c.1251+2509A>T (n.1251+2509A>T) c.1183A>T (p.Arg395Ter) c.1000A>T (p.Arg334Ter) | |
1 | g.77935989G>A | CA340879301 | NEXN | c.1418G>A (p.Arg473Lys) c.1226G>A (p.Arg409Lys) c.1117G>A n.992G>A c.1376G>A (p.Arg459Lys) c.1251+2510G>A (n.1251+2510G>A) c.1184G>A (p.Arg395Lys) c.1001G>A (p.Arg334Lys) | |
1 | g.77935989G>C | CA340879302 | NEXN | c.1418G>C (p.Arg473Thr) c.1226G>C (p.Arg409Thr) c.1117G>C n.992G>C c.1376G>C (p.Arg459Thr) c.1251+2510G>C (n.1251+2510G>C) c.1184G>C (p.Arg395Thr) c.1001G>C (p.Arg334Thr) | |
1 | g.77935989G>T | CA340879305 | NEXN | c.1418G>T (p.Arg473Ile) c.1226G>T (p.Arg409Ile) c.1117G>T n.992G>T c.1376G>T (p.Arg459Ile) c.1251+2510G>T (n.1251+2510G>T) c.1184G>T (p.Arg395Ile) c.1001G>T (p.Arg334Ile) | |
1 | g.77935990A= | CA1141771453 | NEXN | c.1419A= (p.Arg473=) c.1227A= (p.Arg409=) c.1118A= n.993A= c.1377A= (p.Arg459=) c.1251+2511A= (n.1251+2511A=) c.1185A= (p.Arg395=) c.1002A= (p.Arg334=) | |
1 | g.77935990A>C | CA340879306 | NEXN | c.1419A>C (p.Arg473Ser) c.1227A>C (p.Arg409Ser) c.1118A>C n.993A>C c.1377A>C (p.Arg459Ser) c.1251+2511A>C (n.1251+2511A>C) c.1185A>C (p.Arg395Ser) c.1002A>C (p.Arg334Ser) | |
1 | g.77935990A>G | CA918875 | NEXN | c.1419A>G (p.Arg473=) c.1227A>G (p.Arg409=) c.1118A>G n.993A>G c.1377A>G (p.Arg459=) c.1251+2511A>G (n.1251+2511A>G) c.1185A>G (p.Arg395=) c.1002A>G (p.Arg334=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77935990A>T | CA340879309 | NEXN | c.1419A>T (p.Arg473Ser) c.1227A>T (p.Arg409Ser) c.1118A>T n.993A>T c.1377A>T (p.Arg459Ser) c.1251+2511A>T (n.1251+2511A>T) c.1185A>T (p.Arg395Ser) c.1002A>T (p.Arg334Ser) | |
1 | g.77935991A>C | CA418709475 | NEXN | c.1420A>C (p.Arg474=) c.1228A>C (p.Arg410=) c.1119A>C n.994A>C c.1378A>C (p.Arg460=) c.1251+2512A>C (n.1251+2512A>C) c.1186A>C (p.Arg396=) c.1003A>C (p.Arg335=) | |
1 | g.77935991A>G | CA340879310 | NEXN | c.1420A>G (p.Arg474Gly) c.1228A>G (p.Arg410Gly) c.1119A>G n.994A>G c.1378A>G (p.Arg460Gly) c.1251+2512A>G (n.1251+2512A>G) c.1186A>G (p.Arg396Gly) c.1003A>G (p.Arg335Gly) | |
1 | g.77935991A>T | CA340879311 | NEXN | c.1420A>T (p.Arg474Trp) c.1228A>T (p.Arg410Trp) c.1119A>T n.994A>T c.1378A>T (p.Arg460Trp) c.1251+2512A>T (n.1251+2512A>T) c.1186A>T (p.Arg396Trp) c.1003A>T (p.Arg335Trp) | |
1 | g.77935993_77935995del | CA2646274716 | NEXN | c.1422_1424del (p.Arg475del) c.1230_1232del (p.Arg411del) c.1121_1123del n.996_998del c.1380_1382del (p.Arg461del) c.1251+2514_1251+2516del (n.1251+2514_1251+2516del) c.1188_1190del (p.Arg397del) c.1005_1007del (p.Arg336del) | gnomAD v4 |
1 | g.77935992G>A | CA340879313 | NEXN | c.1421G>A (p.Arg474Lys) c.1229G>A (p.Arg410Lys) c.1120G>A n.995G>A c.1379G>A (p.Arg460Lys) c.1251+2513G>A (n.1251+2513G>A) c.1187G>A (p.Arg396Lys) c.1004G>A (p.Arg335Lys) | dbSNP gnomAD v4 |
1 | g.77935992G>C | CA340879314 | NEXN | c.1421G>C (p.Arg474Thr) c.1229G>C (p.Arg410Thr) c.1120G>C n.995G>C c.1379G>C (p.Arg460Thr) c.1251+2513G>C (n.1251+2513G>C) c.1187G>C (p.Arg396Thr) c.1004G>C (p.Arg335Thr) | |
1 | g.77935992G= | CA1177628333 | NEXN | c.1421G= (p.Arg474=) c.1229G= (p.Arg410=) c.1120G= n.995G= c.1379G= (p.Arg460=) c.1251+2513G= (n.1251+2513G=) c.1187G= (p.Arg396=) c.1004G= (p.Arg335=) | |
1 | g.77935992G>T | CA340879315 | NEXN | c.1421G>T (p.Arg474Met) c.1229G>T (p.Arg410Met) c.1120G>T n.995G>T c.1379G>T (p.Arg460Met) c.1251+2513G>T (n.1251+2513G>T) c.1187G>T (p.Arg396Met) c.1004G>T (p.Arg335Met) | |
1 | g.77935993G>A | CA918876 | NEXN | c.1422G>A (p.Arg474=) c.1230G>A (p.Arg410=) c.1121G>A n.996G>A c.1380G>A (p.Arg460=) c.1251+2514G>A (n.1251+2514G>A) c.1188G>A (p.Arg396=) c.1005G>A (p.Arg335=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.77935993G>C | CA340879318 | NEXN | c.1422G>C (p.Arg474Ser) c.1230G>C (p.Arg410Ser) c.1121G>C n.996G>C c.1380G>C (p.Arg460Ser) c.1251+2514G>C (n.1251+2514G>C) c.1188G>C (p.Arg396Ser) c.1005G>C (p.Arg335Ser) | ClinVar dbSNP |
1 | g.77935993G= | CA1177628334 | NEXN | c.1422G= (p.Arg474=) c.1230G= (p.Arg410=) c.1121G= n.996G= c.1380G= (p.Arg460=) c.1251+2514G= (n.1251+2514G=) c.1188G= (p.Arg396=) c.1005G= (p.Arg335=) | |
1 | g.77935993G>T | CA340879319 | NEXN | c.1422G>T (p.Arg474Ser) c.1230G>T (p.Arg410Ser) c.1121G>T n.996G>T c.1380G>T (p.Arg460Ser) c.1251+2514G>T (n.1251+2514G>T) c.1188G>T (p.Arg396Ser) c.1005G>T (p.Arg335Ser) | |
1 | g.77935994A>C | CA418709479 | NEXN | c.1423A>C (p.Arg475=) c.1231A>C (p.Arg411=) c.1122A>C n.997A>C c.1381A>C (p.Arg461=) c.1251+2515A>C (n.1251+2515A>C) c.1189A>C (p.Arg397=) c.1006A>C (p.Arg336=) | |
1 | g.77935994A>G | CA340879320 | NEXN | c.1423A>G (p.Arg475Gly) c.1231A>G (p.Arg411Gly) c.1122A>G n.997A>G c.1381A>G (p.Arg461Gly) c.1251+2515A>G (n.1251+2515A>G) c.1189A>G (p.Arg397Gly) c.1006A>G (p.Arg336Gly) | |
1 | g.77935994A>T | CA340879321 | NEXN | c.1423A>T (p.Arg475Ter) c.1231A>T (p.Arg411Ter) c.1122A>T n.997A>T c.1381A>T (p.Arg461Ter) c.1251+2515A>T (n.1251+2515A>T) c.1189A>T (p.Arg397Ter) c.1006A>T (p.Arg336Ter) | |
1 | g.77935995G>A | CA340879323 | NEXN | c.1424G>A (p.Arg475Lys) c.1232G>A (p.Arg411Lys) c.1123G>A n.998G>A c.1382G>A (p.Arg461Lys) c.1251+2516G>A (n.1251+2516G>A) c.1190G>A (p.Arg397Lys) c.1007G>A (p.Arg336Lys) | gnomAD v4 |
1 | g.77935995G>C | CA340879325 | NEXN | c.1424G>C (p.Arg475Thr) c.1232G>C (p.Arg411Thr) c.1123G>C n.998G>C c.1382G>C (p.Arg461Thr) c.1251+2516G>C (n.1251+2516G>C) c.1190G>C (p.Arg397Thr) c.1007G>C (p.Arg336Thr) | gnomAD v4 |
1 | g.77935995G>T | CA340879328 | NEXN | c.1424G>T (p.Arg475Ile) c.1232G>T (p.Arg411Ile) c.1123G>T n.998G>T c.1382G>T (p.Arg461Ile) c.1251+2516G>T (n.1251+2516G>T) c.1190G>T (p.Arg397Ile) c.1007G>T (p.Arg336Ile) | |
1 | g.77935996A= | CA1177628335 | NEXN | c.1425A= (p.Arg475=) c.1233A= (p.Arg411=) c.1124A= n.999A= c.1383A= (p.Arg461=) c.1251+2517A= (n.1251+2517A=) c.1191A= (p.Arg397=) c.1008A= (p.Arg336=) | |
1 | g.77935996A>C | CA340879330 | NEXN | c.1425A>C (p.Arg475Ser) c.1233A>C (p.Arg411Ser) c.1124A>C n.999A>C c.1383A>C (p.Arg461Ser) c.1251+2517A>C (n.1251+2517A>C) c.1191A>C (p.Arg397Ser) c.1008A>C (p.Arg336Ser) | gnomAD v4 |
1 | g.77935996A>G | CA418709482 | NEXN | c.1425A>G (p.Arg475=) c.1233A>G (p.Arg411=) c.1124A>G n.999A>G c.1383A>G (p.Arg461=) c.1251+2517A>G (n.1251+2517A>G) c.1191A>G (p.Arg397=) c.1008A>G (p.Arg336=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.77935996A>T | CA340879331 | NEXN | c.1425A>T (p.Arg475Ser) c.1233A>T (p.Arg411Ser) c.1124A>T n.999A>T c.1383A>T (p.Arg461Ser) c.1251+2517A>T (n.1251+2517A>T) c.1191A>T (p.Arg397Ser) c.1008A>T (p.Arg336Ser) | |
1 | g.77935997G>A | CA340879339 | NEXN | c.1426G>A (p.Ala476Thr) c.1234G>A (p.Ala412Thr) c.1125G>A n.1000G>A c.1384G>A (p.Ala462Thr) c.1251+2518G>A (n.1251+2518G>A) c.1192G>A (p.Ala398Thr) c.1009G>A (p.Ala337Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77935997G>C | CA340879340 | NEXN | c.1426G>C (p.Ala476Pro) c.1234G>C (p.Ala412Pro) c.1125G>C n.1000G>C c.1384G>C (p.Ala462Pro) c.1251+2518G>C (n.1251+2518G>C) c.1192G>C (p.Ala398Pro) c.1009G>C (p.Ala337Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.77935997G= | CA1177628336 | NEXN | c.1426G= (p.Ala476=) c.1234G= (p.Ala412=) c.1125G= n.1000G= c.1384G= (p.Ala462=) c.1251+2518G= (n.1251+2518G=) c.1192G= (p.Ala398=) c.1009G= (p.Ala337=) | |
1 | g.77935997G>T | CA340879333 | NEXN | c.1426G>T (p.Ala476Ser) c.1234G>T (p.Ala412Ser) c.1125G>T n.1000G>T c.1384G>T (p.Ala462Ser) c.1251+2518G>T (n.1251+2518G>T) c.1192G>T (p.Ala398Ser) c.1009G>T (p.Ala337Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.77935998C>A | CA340879343 | NEXN | c.1427C>A (p.Ala476Glu) c.1235C>A (p.Ala412Glu) c.1126C>A n.1001C>A c.1385C>A (p.Ala462Glu) c.1251+2519C>A (n.1251+2519C>A) c.1193C>A (p.Ala398Glu) c.1010C>A (p.Ala337Glu) | |
1 | g.77935998C>G | CA340879342 | NEXN | c.1427C>G (p.Ala476Gly) c.1235C>G (p.Ala412Gly) c.1126C>G n.1001C>G c.1385C>G (p.Ala462Gly) c.1251+2519C>G (n.1251+2519C>G) c.1193C>G (p.Ala398Gly) c.1010C>G (p.Ala337Gly) | |
1 | g.77935998C>T | CA340879345 | NEXN | c.1427C>T (p.Ala476Val) c.1235C>T (p.Ala412Val) c.1126C>T n.1001C>T c.1385C>T (p.Ala462Val) c.1251+2519C>T (n.1251+2519C>T) c.1193C>T (p.Ala398Val) c.1010C>T (p.Ala337Val) | |
1 | g.77935999A= | CA1177628337 | NEXN | c.1428A= (p.Ala476=) c.1236A= (p.Ala412=) c.1127A= n.1002A= c.1386A= (p.Ala462=) c.1251+2520A= (n.1251+2520A=) c.1194A= (p.Ala398=) c.1011A= (p.Ala337=) | |
1 | g.77935999A>C | CA918877 | NEXN | c.1428A>C (p.Ala476=) c.1236A>C (p.Ala412=) c.1127A>C n.1002A>C c.1386A>C (p.Ala462=) c.1251+2520A>C (n.1251+2520A>C) c.1194A>C (p.Ala398=) c.1011A>C (p.Ala337=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77935999A>G | CA418709485 | NEXN | c.1428A>G (p.Ala476=) c.1236A>G (p.Ala412=) c.1127A>G n.1002A>G c.1386A>G (p.Ala462=) c.1251+2520A>G (n.1251+2520A>G) c.1194A>G (p.Ala398=) c.1011A>G (p.Ala337=) | |
1 | g.77935999A>T | CA418709484 | NEXN | c.1428A>T (p.Ala476=) c.1236A>T (p.Ala412=) c.1127A>T n.1002A>T c.1386A>T (p.Ala462=) c.1251+2520A>T (n.1251+2520A>T) c.1194A>T (p.Ala398=) c.1011A>T (p.Ala337=) | |
1 | g.77936000A= | CA1177628338 | NEXN | c.1429A= (p.Ile477=) c.1237A= (p.Ile413=) c.1128A= n.1003A= c.1387A= (p.Ile463=) c.1251+2521A= (n.1251+2521A=) c.1195A= (p.Ile399=) c.1012A= (p.Ile338=) | |
1 | g.77936000A>C | CA340879347 | NEXN | c.1429A>C (p.Ile477Leu) c.1237A>C (p.Ile413Leu) c.1128A>C n.1003A>C c.1387A>C (p.Ile463Leu) c.1251+2521A>C (n.1251+2521A>C) c.1195A>C (p.Ile399Leu) c.1012A>C (p.Ile338Leu) | |
1 | g.77936000A>G | CA340879348 | NEXN | c.1429A>G (p.Ile477Val) c.1237A>G (p.Ile413Val) c.1128A>G n.1003A>G c.1387A>G (p.Ile463Val) c.1251+2521A>G (n.1251+2521A>G) c.1195A>G (p.Ile399Val) c.1012A>G (p.Ile338Val) | ClinVar dbSNP |
1 | g.77936000A>T | CA340879350 | NEXN | c.1429A>T (p.Ile477Phe) c.1237A>T (p.Ile413Phe) c.1128A>T n.1003A>T c.1387A>T (p.Ile463Phe) c.1251+2521A>T (n.1251+2521A>T) c.1195A>T (p.Ile399Phe) c.1012A>T (p.Ile338Phe) | |
1 | g.77936001T>A | CA340879352 | NEXN | c.1430T>A (p.Ile477Asn) c.1238T>A (p.Ile413Asn) c.1129T>A n.1004T>A c.1388T>A (p.Ile463Asn) c.1251+2522T>A (n.1251+2522T>A) c.1196T>A (p.Ile399Asn) c.1013T>A (p.Ile338Asn) | |
1 | g.77936001T>C | CA335442 | NEXN | c.1430T>C (p.Ile477Thr) c.1238T>C (p.Ile413Thr) c.1129T>C n.1004T>C c.1388T>C (p.Ile463Thr) c.1251+2522T>C (n.1251+2522T>C) c.1196T>C (p.Ile399Thr) c.1013T>C (p.Ile338Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77936001T>G | CA183791 | NEXN | c.1430T>G (p.Ile477Ser) c.1238T>G (p.Ile413Ser) c.1129T>G n.1004T>G c.1388T>G (p.Ile463Ser) c.1251+2522T>G (n.1251+2522T>G) c.1196T>G (p.Ile399Ser) c.1013T>G (p.Ile338Ser) | ClinVar dbSNP gnomAD v4 |
1 | g.77936001T= | CA1148224377 | NEXN | c.1430T= (p.Ile477=) c.1238T= (p.Ile413=) c.1129T= n.1004T= c.1388T= (p.Ile463=) c.1251+2522T= (n.1251+2522T=) c.1196T= (p.Ile399=) c.1013T= (p.Ile338=) | |
1 | g.77936002T>A | CA418709487 | NEXN | c.1431T>A (p.Ile477=) c.1239T>A (p.Ile413=) c.1130T>A n.1005T>A c.1389T>A (p.Ile463=) c.1251+2523T>A (n.1251+2523T>A) c.1197T>A (p.Ile399=) c.1014T>A (p.Ile338=) | gnomAD v4 |
1 | g.77936002T>C | CA418709490 | NEXN | c.1431T>C (p.Ile477=) c.1239T>C (p.Ile413=) c.1130T>C n.1005T>C c.1389T>C (p.Ile463=) c.1251+2523T>C (n.1251+2523T>C) c.1197T>C (p.Ile399=) c.1014T>C (p.Ile338=) | ClinVar gnomAD v4 |
1 | g.77936002T>G | CA340879354 | NEXN | c.1431T>G (p.Ile477Met) c.1239T>G (p.Ile413Met) c.1130T>G n.1005T>G c.1389T>G (p.Ile463Met) c.1251+2523T>G (n.1251+2523T>G) c.1197T>G (p.Ile399Met) c.1014T>G (p.Ile338Met) | |
1 | g.77936003G>A | CA340879355 | NEXN | c.1432G>A (p.Asp478Asn) c.1240G>A (p.Asp414Asn) c.1131G>A n.1006G>A c.1390G>A (p.Asp464Asn) c.1251+2524G>A (n.1251+2524G>A) c.1198G>A (p.Asp400Asn) c.1015G>A (p.Asp339Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.77936003G>C | CA340879357 | NEXN | c.1432G>C (p.Asp478His) c.1240G>C (p.Asp414His) c.1131G>C n.1006G>C c.1390G>C (p.Asp464His) c.1251+2524G>C (n.1251+2524G>C) c.1198G>C (p.Asp400His) c.1015G>C (p.Asp339His) | |
1 | g.77936003G= | CA1177628339 | NEXN | c.1432G= (p.Asp478=) c.1240G= (p.Asp414=) c.1131G= n.1006G= c.1390G= (p.Asp464=) c.1251+2524G= (n.1251+2524G=) c.1198G= (p.Asp400=) c.1015G= (p.Asp339=) | |
1 | g.77936003G>T | CA340879359 | NEXN | c.1432G>T (p.Asp478Tyr) c.1240G>T (p.Asp414Tyr) c.1131G>T n.1006G>T c.1390G>T (p.Asp464Tyr) c.1251+2524G>T (n.1251+2524G>T) c.1198G>T (p.Asp400Tyr) c.1015G>T (p.Asp339Tyr) | gnomAD v4 |
1 | g.77936004A>C | CA340879360 | NEXN | c.1433A>C (p.Asp478Ala) c.1241A>C (p.Asp414Ala) c.1132A>C n.1007A>C c.1391A>C (p.Asp464Ala) c.1251+2525A>C (n.1251+2525A>C) c.1199A>C (p.Asp400Ala) c.1016A>C (p.Asp339Ala) | |
1 | g.77936004A>G | CA340879361 | NEXN | c.1433A>G (p.Asp478Gly) c.1241A>G (p.Asp414Gly) c.1132A>G n.1007A>G c.1391A>G (p.Asp464Gly) c.1251+2525A>G (n.1251+2525A>G) c.1199A>G (p.Asp400Gly) c.1016A>G (p.Asp339Gly) | |
1 | g.77936004A>T | CA340879363 | NEXN | c.1433A>T (p.Asp478Val) c.1241A>T (p.Asp414Val) c.1132A>T n.1007A>T c.1391A>T (p.Asp464Val) c.1251+2525A>T (n.1251+2525A>T) c.1199A>T (p.Asp400Val) c.1016A>T (p.Asp339Val) | |
1 | g.77936005C>A | CA340879365 | NEXN | c.1434C>A (p.Asp478Glu) c.1242C>A (p.Asp414Glu) c.1133C>A n.1008C>A c.1392C>A (p.Asp464Glu) c.1251+2526C>A (n.1251+2526C>A) c.1200C>A (p.Asp400Glu) c.1017C>A (p.Asp339Glu) | |
1 | g.77936005C= | CA1177628340 | NEXN | c.1434C= (p.Asp478=) c.1242C= (p.Asp414=) c.1133C= n.1008C= c.1392C= (p.Asp464=) c.1251+2526C= (n.1251+2526C=) c.1200C= (p.Asp400=) c.1017C= (p.Asp339=) | |
1 | g.77936005C>G | CA340879370 | NEXN | c.1434C>G (p.Asp478Glu) c.1242C>G (p.Asp414Glu) c.1133C>G n.1008C>G c.1392C>G (p.Asp464Glu) c.1251+2526C>G (n.1251+2526C>G) c.1200C>G (p.Asp400Glu) c.1017C>G (p.Asp339Glu) | dbSNP |
1 | g.77936005C>T | CA418709494 | NEXN | c.1434C>T (p.Asp478=) c.1242C>T (p.Asp414=) c.1133C>T n.1008C>T c.1392C>T (p.Asp464=) c.1251+2526C>T (n.1251+2526C>T) c.1200C>T (p.Asp400=) c.1017C>T (p.Asp339=) | gnomAD v4 |
1 | g.77936006C>A | CA340879371 | NEXN | c.1435C>A (p.Leu479Ile) c.1243C>A (p.Leu415Ile) c.1134C>A n.1009C>A c.1393C>A (p.Leu465Ile) c.1251+2527C>A (n.1251+2527C>A) c.1201C>A (p.Leu401Ile) c.1018C>A (p.Leu340Ile) | |
1 | g.77936006C= | CA1142483760 | NEXN | c.1435C= (p.Leu479=) c.1243C= (p.Leu415=) c.1134C= n.1009C= c.1393C= (p.Leu465=) c.1251+2527C= (n.1251+2527C=) c.1201C= (p.Leu401=) c.1018C= (p.Leu340=) | |
1 | g.77936006C>G | CA340879373 | NEXN | c.1435C>G (p.Leu479Val) c.1243C>G (p.Leu415Val) c.1134C>G n.1009C>G c.1393C>G (p.Leu465Val) c.1251+2527C>G (n.1251+2527C>G) c.1201C>G (p.Leu401Val) c.1018C>G (p.Leu340Val) | |
1 | g.77936006C>T | CA335415 | NEXN | c.1435C>T (p.Leu479Phe) c.1243C>T (p.Leu415Phe) c.1134C>T n.1009C>T c.1393C>T (p.Leu465Phe) c.1251+2527C>T (n.1251+2527C>T) c.1201C>T (p.Leu401Phe) c.1018C>T (p.Leu340Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77936007T>A | CA340879375 | NEXN | c.1436T>A (p.Leu479His) c.1244T>A (p.Leu415His) c.1135T>A n.1010T>A c.1394T>A (p.Leu465His) c.1251+2528T>A (n.1251+2528T>A) c.1202T>A (p.Leu401His) c.1019T>A (p.Leu340His) | |
1 | g.77936007T>C | CA340879377 | NEXN | c.1436T>C (p.Leu479Pro) c.1244T>C (p.Leu415Pro) c.1135T>C n.1010T>C c.1394T>C (p.Leu465Pro) c.1251+2528T>C (n.1251+2528T>C) c.1202T>C (p.Leu401Pro) c.1019T>C (p.Leu340Pro) | |
1 | g.77936007T>G | CA340879379 | NEXN | c.1436T>G (p.Leu479Arg) c.1244T>G (p.Leu415Arg) c.1135T>G n.1010T>G c.1394T>G (p.Leu465Arg) c.1251+2528T>G (n.1251+2528T>G) c.1202T>G (p.Leu401Arg) c.1019T>G (p.Leu340Arg) | |
1 | g.77936008T>A | CA418709498 | NEXN | c.1437T>A (p.Leu479=) c.1245T>A (p.Leu415=) c.1136T>A n.1011T>A c.1395T>A (p.Leu465=) c.1251+2529T>A (n.1251+2529T>A) c.1203T>A (p.Leu401=) c.1020T>A (p.Leu340=) | |
1 | g.77936008T>C | CA418709500 | NEXN | c.1437T>C (p.Leu479=) c.1245T>C (p.Leu415=) c.1136T>C n.1011T>C c.1395T>C (p.Leu465=) c.1251+2529T>C (n.1251+2529T>C) c.1203T>C (p.Leu401=) c.1020T>C (p.Leu340=) | gnomAD v4 |
1 | g.77936008T>G | CA418709499 | NEXN | c.1437T>G (p.Leu479=) c.1245T>G (p.Leu415=) c.1136T>G n.1011T>G c.1395T>G (p.Leu465=) c.1251+2529T>G (n.1251+2529T>G) c.1203T>G (p.Leu401=) c.1020T>G (p.Leu340=) | ClinVar dbSNP gnomAD v4 |
1 | g.77936009G>A | CA340879380 | NEXN | c.1438G>A (p.Glu480Lys) c.1246G>A (p.Glu416Lys) c.1137G>A n.1012G>A c.1396G>A (p.Glu466Lys) c.1251+2530G>A (n.1251+2530G>A) c.1204G>A (p.Glu402Lys) c.1021G>A (p.Glu341Lys) | |
1 | g.77936009G>C | CA340879382 | NEXN | c.1438G>C (p.Glu480Gln) c.1246G>C (p.Glu416Gln) c.1137G>C n.1012G>C c.1396G>C (p.Glu466Gln) c.1251+2530G>C (n.1251+2530G>C) c.1204G>C (p.Glu402Gln) c.1021G>C (p.Glu341Gln) | |
1 | g.77936009G>T | CA340879383 | NEXN | c.1438G>T (p.Glu480Ter) c.1246G>T (p.Glu416Ter) c.1137G>T n.1012G>T c.1396G>T (p.Glu466Ter) c.1251+2530G>T (n.1251+2530G>T) c.1204G>T (p.Glu402Ter) c.1021G>T (p.Glu341Ter) | |
1 | g.77936010A= | CA1177628341 | NEXN | c.1439A= (p.Glu480=) c.1247A= (p.Glu416=) c.1138A= n.1013A= c.1397A= (p.Glu466=) c.1251+2531A= (n.1251+2531A=) c.1205A= (p.Glu402=) c.1022A= (p.Glu341=) | |
1 | g.77936010A>C | CA340879384 | NEXN | c.1439A>C (p.Glu480Ala) c.1247A>C (p.Glu416Ala) c.1138A>C n.1013A>C c.1397A>C (p.Glu466Ala) c.1251+2531A>C (n.1251+2531A>C) c.1205A>C (p.Glu402Ala) c.1022A>C (p.Glu341Ala) | |
1 | g.77936010A>G | CA340879386 | NEXN | c.1439A>G (p.Glu480Gly) c.1247A>G (p.Glu416Gly) c.1138A>G n.1013A>G c.1397A>G (p.Glu466Gly) c.1251+2531A>G (n.1251+2531A>G) c.1205A>G (p.Glu402Gly) c.1022A>G (p.Glu341Gly) | gnomAD v4 |
1 | g.77936010A>T | CA340879388 | NEXN | c.1439A>T (p.Glu480Val) c.1247A>T (p.Glu416Val) c.1138A>T n.1013A>T c.1397A>T (p.Glu466Val) c.1251+2531A>T (n.1251+2531A>T) c.1205A>T (p.Glu402Val) c.1022A>T (p.Glu341Val) | |
1 | g.77936011A>C | CA340879390 | NEXN | c.1440A>C (p.Glu480Asp) c.1248A>C (p.Glu416Asp) c.1139A>C n.1014A>C c.1398A>C (p.Glu466Asp) c.1251+2532A>C (n.1251+2532A>C) c.1206A>C (p.Glu402Asp) c.1023A>C (p.Glu341Asp) | |
1 | g.77936011A>G | CA418709504 | NEXN | c.1440A>G (p.Glu480=) c.1248A>G (p.Glu416=) c.1139A>G n.1014A>G c.1398A>G (p.Glu466=) c.1251+2532A>G (n.1251+2532A>G) c.1206A>G (p.Glu402=) c.1023A>G (p.Glu341=) | |
1 | g.77936011A>T | CA340879389 | NEXN | c.1440A>T (p.Glu480Asp) c.1248A>T (p.Glu416Asp) c.1139A>T n.1014A>T c.1398A>T (p.Glu466Asp) c.1251+2532A>T (n.1251+2532A>T) c.1206A>T (p.Glu402Asp) c.1023A>T (p.Glu341Asp) | |
1 | g.77936012_77936069dup | CA1003482999 | NEXN | c.1441_1473+25dup c.1249_1281+25dup c.1140_1172+25dup n.1015_1047+25dup c.1399_1431+25dup c.1251+2533_1251+2590dup (n.1251+2533_1251+2590dup) c.1207_1239+25dup c.1024_1056+25dup | dbSNP gnomAD v3 gnomAD v4 |
1 | g.77936012A>C | CA340879392 | NEXN | c.1441A>C (p.Ile481Leu) c.1249A>C (p.Ile417Leu) c.1140A>C n.1015A>C c.1399A>C (p.Ile467Leu) c.1251+2533A>C (n.1251+2533A>C) c.1207A>C (p.Ile403Leu) c.1024A>C (p.Ile342Leu) | |
1 | g.77936012A>G | CA340879396 | NEXN | c.1441A>G (p.Ile481Val) c.1249A>G (p.Ile417Val) c.1140A>G n.1015A>G c.1399A>G (p.Ile467Val) c.1251+2533A>G (n.1251+2533A>G) c.1207A>G (p.Ile403Val) c.1024A>G (p.Ile342Val) | |
1 | g.77936012A>T | CA340879397 | NEXN | c.1441A>T (p.Ile481Phe) c.1249A>T (p.Ile417Phe) c.1140A>T n.1015A>T c.1399A>T (p.Ile467Phe) c.1251+2533A>T (n.1251+2533A>T) c.1207A>T (p.Ile403Phe) c.1024A>T (p.Ile342Phe) | |
1 | g.77936013T>A | CA340879399 | NEXN | c.1442T>A (p.Ile481Asn) c.1250T>A (p.Ile417Asn) c.1141T>A n.1016T>A c.1400T>A (p.Ile467Asn) c.1251+2534T>A (n.1251+2534T>A) c.1208T>A (p.Ile403Asn) c.1025T>A (p.Ile342Asn) | |
1 | g.77936013T>C | CA340879400 | NEXN | c.1442T>C (p.Ile481Thr) c.1250T>C (p.Ile417Thr) c.1141T>C n.1016T>C c.1400T>C (p.Ile467Thr) c.1251+2534T>C (n.1251+2534T>C) c.1208T>C (p.Ile403Thr) c.1025T>C (p.Ile342Thr) | |
1 | g.77936013T>G | CA340879402 | NEXN | c.1442T>G (p.Ile481Ser) c.1250T>G (p.Ile417Ser) c.1141T>G n.1016T>G c.1400T>G (p.Ile467Ser) c.1251+2534T>G (n.1251+2534T>G) c.1208T>G (p.Ile403Ser) c.1025T>G (p.Ile342Ser) | COSMIC COSMIC |
1 | g.77936014T>A | CA418709507 | NEXN | c.1443T>A (p.Ile481=) c.1251T>A (p.Ile417=) c.1142T>A n.1017T>A c.1401T>A (p.Ile467=) c.1251+2535T>A (n.1251+2535T>A) c.1209T>A (p.Ile403=) c.1026T>A (p.Ile342=) | |
1 | g.77936014T>C | CA418709506 | NEXN | c.1443T>C (p.Ile481=) c.1251T>C (p.Ile417=) c.1142T>C n.1017T>C c.1401T>C (p.Ile467=) c.1251+2535T>C (n.1251+2535T>C) c.1209T>C (p.Ile403=) c.1026T>C (p.Ile342=) | |
1 | g.77936014T>G | CA340879403 | NEXN | c.1443T>G (p.Ile481Met) c.1251T>G (p.Ile417Met) c.1142T>G n.1017T>G c.1401T>G (p.Ile467Met) c.1251+2535T>G (n.1251+2535T>G) c.1209T>G (p.Ile403Met) c.1026T>G (p.Ile342Met) | |
1 | g.77936014_77936016delinsTAA | CA1177628342 | NEXN | c.1443_1445delinsTAA (p.Ile481=) c.1251_1253delinsTAA (p.Ile417=) c.1142_1144delinsTAA n.1017_1019delinsTAA c.1401_1403delinsTAA (p.Ile467=) c.1251+2535_1251+2537delinsTAA (n.1251+2535_1251+2537delinsTAA) c.1209_1211delinsTAA (p.Ile403=) c.1026_1028delinsTAA (p.Ile342=) | |
1 | g.77936015A>C | CA340879406 | NEXN | c.1444A>C (p.Lys482Gln) c.1252A>C (p.Lys418Gln) c.1143A>C n.1018A>C c.1402A>C (p.Lys468Gln) c.1251+2536A>C (n.1251+2536A>C) c.1210A>C (p.Lys404Gln) c.1027A>C (p.Lys343Gln) | |
1 | g.77936015A>G | CA340879408 | NEXN | c.1444A>G (p.Lys482Glu) c.1252A>G (p.Lys418Glu) c.1143A>G n.1018A>G c.1402A>G (p.Lys468Glu) c.1251+2536A>G (n.1251+2536A>G) c.1210A>G (p.Lys404Glu) c.1027A>G (p.Lys343Glu) | gnomAD v4 |
1 | g.77936015A>T | CA340879409 | NEXN | c.1444A>T (p.Lys482Ter) c.1252A>T (p.Lys418Ter) c.1143A>T n.1018A>T c.1402A>T (p.Lys468Ter) c.1251+2536A>T (n.1251+2536A>T) c.1210A>T (p.Lys404Ter) c.1027A>T (p.Lys343Ter) | |
1 | g.77936016_77936017del | CA335459 | NEXN | c.1445_1446del (p.Lys482ArgfsTer5) c.1253_1254del (p.Lys418ArgfsTer5) c.1144_1145del n.1019_1020del c.1403_1404del (p.Lys468ArgfsTer5) c.1251+2537_1251+2538del (n.1251+2537_1251+2538del) c.1211_1212del (p.Lys404ArgfsTer5) c.1028_1029del (p.Lys343ArgfsTer5) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.77936016A= | CA1177628343 | NEXN | c.1445A= (p.Lys482=) c.1253A= (p.Lys418=) c.1144A= n.1019A= c.1403A= (p.Lys468=) c.1251+2537A= (n.1251+2537A=) c.1211A= (p.Lys404=) c.1028A= (p.Lys343=) | |
1 | g.77936016A>C | CA340879412 | NEXN | c.1445A>C (p.Lys482Thr) c.1253A>C (p.Lys418Thr) c.1144A>C n.1019A>C c.1403A>C (p.Lys468Thr) c.1251+2537A>C (n.1251+2537A>C) c.1211A>C (p.Lys404Thr) c.1028A>C (p.Lys343Thr) | |
1 | g.77936016A>G | CA918878 | NEXN | c.1445A>G (p.Lys482Arg) c.1253A>G (p.Lys418Arg) c.1144A>G n.1019A>G c.1403A>G (p.Lys468Arg) c.1251+2537A>G (n.1251+2537A>G) c.1211A>G (p.Lys404Arg) c.1028A>G (p.Lys343Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.77936016A>T | CA340879414 | NEXN | c.1445A>T (p.Lys482Ile) c.1253A>T (p.Lys418Ile) c.1144A>T n.1019A>T c.1403A>T (p.Lys468Ile) c.1251+2537A>T (n.1251+2537A>T) c.1211A>T (p.Lys404Ile) c.1028A>T (p.Lys343Ile) | |
1 | g.77936017A>C | CA340879416 | NEXN | c.1446A>C (p.Lys482Asn) c.1254A>C (p.Lys418Asn) c.1145A>C n.1020A>C c.1404A>C (p.Lys468Asn) c.1251+2538A>C (n.1251+2538A>C) c.1212A>C (p.Lys404Asn) c.1029A>C (p.Lys343Asn) | |
1 | g.77936017A>G | CA418709509 | NEXN | c.1446A>G (p.Lys482=) c.1254A>G (p.Lys418=) c.1145A>G n.1020A>G c.1404A>G (p.Lys468=) c.1251+2538A>G (n.1251+2538A>G) c.1212A>G (p.Lys404=) c.1029A>G (p.Lys343=) | |
1 | g.77936017A>T | CA340879415 | NEXN | c.1446A>T (p.Lys482Asn) c.1254A>T (p.Lys418Asn) c.1145A>T n.1020A>T c.1404A>T (p.Lys468Asn) c.1251+2538A>T (n.1251+2538A>T) c.1212A>T (p.Lys404Asn) c.1029A>T (p.Lys343Asn) | |
1 | g.77936018G>A | CA340879418 | NEXN | c.1447G>A (p.Glu483Lys) c.1255G>A (p.Glu419Lys) c.1146G>A n.1021G>A c.1405G>A (p.Glu469Lys) c.1251+2539G>A (n.1251+2539G>A) c.1213G>A (p.Glu405Lys) c.1030G>A (p.Glu344Lys) | |
1 | g.77936018G>C | CA340879419 | NEXN | c.1447G>C (p.Glu483Gln) c.1255G>C (p.Glu419Gln) c.1146G>C n.1021G>C c.1405G>C (p.Glu469Gln) c.1251+2539G>C (n.1251+2539G>C) c.1213G>C (p.Glu405Gln) c.1030G>C (p.Glu344Gln) | gnomAD v4 |
1 | g.77936018G>T | CA340879420 | NEXN | c.1447G>T (p.Glu483Ter) c.1255G>T (p.Glu419Ter) c.1146G>T n.1021G>T c.1405G>T (p.Glu469Ter) c.1251+2539G>T (n.1251+2539G>T) c.1213G>T (p.Glu405Ter) c.1030G>T (p.Glu344Ter) | |
1 | g.77936019A>C | CA340879422 | NEXN | c.1448A>C (p.Glu483Ala) c.1256A>C (p.Glu419Ala) c.1147A>C n.1022A>C c.1406A>C (p.Glu469Ala) c.1251+2540A>C (n.1251+2540A>C) c.1214A>C (p.Glu405Ala) c.1031A>C (p.Glu344Ala) | |
1 | g.77936019A>G | CA340879424 | NEXN | c.1448A>G (p.Glu483Gly) c.1256A>G (p.Glu419Gly) c.1147A>G n.1022A>G c.1406A>G (p.Glu469Gly) c.1251+2540A>G (n.1251+2540A>G) c.1214A>G (p.Glu405Gly) c.1031A>G (p.Glu344Gly) | gnomAD v4 |
1 | g.77936019A>T | CA340879425 | NEXN | c.1448A>T (p.Glu483Val) c.1256A>T (p.Glu419Val) c.1147A>T n.1022A>T c.1406A>T (p.Glu469Val) c.1251+2540A>T (n.1251+2540A>T) c.1214A>T (p.Glu405Val) c.1031A>T (p.Glu344Val) | |
1 | g.77936020G>A | CA418709513 | NEXN | c.1449G>A (p.Glu483=) c.1257G>A (p.Glu419=) c.1148G>A n.1023G>A c.1407G>A (p.Glu469=) c.1251+2541G>A (n.1251+2541G>A) c.1215G>A (p.Glu405=) c.1032G>A (p.Glu344=) | |
1 | g.77936020G>C | CA340879428 | NEXN | c.1449G>C (p.Glu483Asp) c.1257G>C (p.Glu419Asp) c.1148G>C n.1023G>C c.1407G>C (p.Glu469Asp) c.1251+2541G>C (n.1251+2541G>C) c.1215G>C (p.Glu405Asp) c.1032G>C (p.Glu344Asp) | |
1 | g.77936020G>T | CA340879427 | NEXN | c.1449G>T (p.Glu483Asp) c.1257G>T (p.Glu419Asp) c.1148G>T n.1023G>T c.1407G>T (p.Glu469Asp) c.1251+2541G>T (n.1251+2541G>T) c.1215G>T (p.Glu405Asp) c.1032G>T (p.Glu344Asp) | |
1 | g.77936021C>A | CA918880 | NEXN | c.1450C>A (p.Arg484=) c.1258C>A (p.Arg420=) c.1149C>A n.1024C>A c.1408C>A (p.Arg470=) c.1251+2542C>A (n.1251+2542C>A) c.1216C>A (p.Arg406=) c.1033C>A (p.Arg345=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77936021C= | CA1177628344 | NEXN | c.1450C= (p.Arg484=) c.1258C= (p.Arg420=) c.1149C= n.1024C= c.1408C= (p.Arg470=) c.1251+2542C= (n.1251+2542C=) c.1216C= (p.Arg406=) c.1033C= (p.Arg345=) | |
1 | g.77936021C>G | CA340879430 | NEXN | c.1450C>G (p.Arg484Gly) c.1258C>G (p.Arg420Gly) c.1149C>G n.1024C>G c.1408C>G (p.Arg470Gly) c.1251+2542C>G (n.1251+2542C>G) c.1216C>G (p.Arg406Gly) c.1033C>G (p.Arg345Gly) | gnomAD v4 |
1 | g.77936021C>T | CA918879 | NEXN | c.1450C>T (p.Arg484Ter) c.1258C>T (p.Arg420Ter) c.1149C>T n.1024C>T c.1408C>T (p.Arg470Ter) c.1251+2542C>T (n.1251+2542C>T) c.1216C>T (p.Arg406Ter) c.1033C>T (p.Arg345Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.77936022G>A | CA340879432 | NEXN | c.1451G>A (p.Arg484Gln) c.1259G>A (p.Arg420Gln) c.1150G>A n.1025G>A c.1409G>A (p.Arg470Gln) c.1251+2543G>A (n.1251+2543G>A) c.1217G>A (p.Arg406Gln) c.1034G>A (p.Arg345Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77936022G>C | CA340879434 | NEXN | c.1451G>C (p.Arg484Pro) c.1259G>C (p.Arg420Pro) c.1150G>C n.1025G>C c.1409G>C (p.Arg470Pro) c.1251+2543G>C (n.1251+2543G>C) c.1217G>C (p.Arg406Pro) c.1034G>C (p.Arg345Pro) | dbSNP gnomAD v4 |
1 | g.77936022G= | CA1177628345 | NEXN | c.1451G= (p.Arg484=) c.1259G= (p.Arg420=) c.1150G= n.1025G= c.1409G= (p.Arg470=) c.1251+2543G= (n.1251+2543G=) c.1217G= (p.Arg406=) c.1034G= (p.Arg345=) | |
1 | g.77936022G>T | CA340879435 | NEXN | c.1451G>T (p.Arg484Leu) c.1259G>T (p.Arg420Leu) c.1150G>T n.1025G>T c.1409G>T (p.Arg470Leu) c.1251+2543G>T (n.1251+2543G>T) c.1217G>T (p.Arg406Leu) c.1034G>T (p.Arg345Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.77936023A>C | CA418709518 | NEXN | c.1452A>C (p.Arg484=) c.1260A>C (p.Arg420=) c.1151A>C n.1026A>C c.1410A>C (p.Arg470=) c.1251+2544A>C (n.1251+2544A>C) c.1218A>C (p.Arg406=) c.1035A>C (p.Arg345=) | |
1 | g.77936023A>G | CA418709520 | NEXN | c.1452A>G (p.Arg484=) c.1260A>G (p.Arg420=) c.1151A>G n.1026A>G c.1410A>G (p.Arg470=) c.1251+2544A>G (n.1251+2544A>G) c.1218A>G (p.Arg406=) c.1035A>G (p.Arg345=) | |
1 | g.77936023A>T | CA418709521 | NEXN | c.1452A>T (p.Arg484=) c.1260A>T (p.Arg420=) c.1151A>T n.1026A>T c.1410A>T (p.Arg470=) c.1251+2544A>T (n.1251+2544A>T) c.1218A>T (p.Arg406=) c.1035A>T (p.Arg345=) | |
1 | g.77936024G>A | CA142116 | NEXN | c.1453G>A (p.Glu485Lys) c.1261G>A (p.Glu421Lys) c.1152G>A n.1027G>A c.1411G>A (p.Glu471Lys) c.1251+2545G>A (n.1251+2545G>A) c.1219G>A (p.Glu407Lys) c.1036G>A (p.Glu346Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77936024G>C | CA340879438 | NEXN | c.1453G>C (p.Glu485Gln) c.1261G>C (p.Glu421Gln) c.1152G>C n.1027G>C c.1411G>C (p.Glu471Gln) c.1251+2545G>C (n.1251+2545G>C) c.1219G>C (p.Glu407Gln) c.1036G>C (p.Glu346Gln) | gnomAD v4 |
1 | g.77936024G= | CA1143622015 | NEXN | c.1453G= (p.Glu485=) c.1261G= (p.Glu421=) c.1152G= n.1027G= c.1411G= (p.Glu471=) c.1251+2545G= (n.1251+2545G=) c.1219G= (p.Glu407=) c.1036G= (p.Glu346=) | |
1 | g.77936024G>T | CA340879437 | NEXN | c.1453G>T (p.Glu485Ter) c.1261G>T (p.Glu421Ter) c.1152G>T n.1027G>T c.1411G>T (p.Glu471Ter) c.1251+2545G>T (n.1251+2545G>T) c.1219G>T (p.Glu407Ter) c.1036G>T (p.Glu346Ter) | |
1 | g.77936025A>C | CA340879439 | NEXN | c.1454A>C (p.Glu485Ala) c.1262A>C (p.Glu421Ala) c.1153A>C n.1028A>C c.1412A>C (p.Glu471Ala) c.1251+2546A>C (n.1251+2546A>C) c.1220A>C (p.Glu407Ala) c.1037A>C (p.Glu346Ala) | |
1 | g.77936025A>G | CA340879440 | NEXN | c.1454A>G (p.Glu485Gly) c.1262A>G (p.Glu421Gly) c.1153A>G n.1028A>G c.1412A>G (p.Glu471Gly) c.1251+2546A>G (n.1251+2546A>G) c.1220A>G (p.Glu407Gly) c.1037A>G (p.Glu346Gly) | |
1 | g.77936025A>T | CA340879441 | NEXN | c.1454A>T (p.Glu485Val) c.1262A>T (p.Glu421Val) c.1153A>T n.1028A>T c.1412A>T (p.Glu471Val) c.1251+2546A>T (n.1251+2546A>T) c.1220A>T (p.Glu407Val) c.1037A>T (p.Glu346Val) | |
1 | g.77936026A>C | CA340879442 | NEXN | c.1455A>C (p.Glu485Asp) c.1263A>C (p.Glu421Asp) c.1154A>C n.1029A>C c.1413A>C (p.Glu471Asp) c.1251+2547A>C (n.1251+2547A>C) c.1221A>C (p.Glu407Asp) c.1038A>C (p.Glu346Asp) | gnomAD v4 |
1 | g.77936026A>G | CA418709523 | NEXN | c.1455A>G (p.Glu485=) c.1263A>G (p.Glu421=) c.1154A>G n.1029A>G c.1413A>G (p.Glu471=) c.1251+2547A>G (n.1251+2547A>G) c.1221A>G (p.Glu407=) c.1038A>G (p.Glu346=) | |
1 | g.77936026A>T | CA340879443 | NEXN | c.1455A>T (p.Glu485Asp) c.1263A>T (p.Glu421Asp) c.1154A>T n.1029A>T c.1413A>T (p.Glu471Asp) c.1251+2547A>T (n.1251+2547A>T) c.1221A>T (p.Glu407Asp) c.1038A>T (p.Glu346Asp) | |
1 | g.77936027G>A | CA340879448 | NEXN | c.1456G>A (p.Ala486Thr) c.1264G>A (p.Ala422Thr) c.1155G>A n.1030G>A c.1414G>A (p.Ala472Thr) c.1251+2548G>A (n.1251+2548G>A) c.1222G>A (p.Ala408Thr) c.1039G>A (p.Ala347Thr) | gnomAD v4 |
1 | g.77936027G>C | CA340879447 | NEXN | c.1456G>C (p.Ala486Pro) c.1264G>C (p.Ala422Pro) c.1155G>C n.1030G>C c.1414G>C (p.Ala472Pro) c.1251+2548G>C (n.1251+2548G>C) c.1222G>C (p.Ala408Pro) c.1039G>C (p.Ala347Pro) | |
1 | g.77936027G>T | CA340879445 | NEXN | c.1456G>T (p.Ala486Ser) c.1264G>T (p.Ala422Ser) c.1155G>T n.1030G>T c.1414G>T (p.Ala472Ser) c.1251+2548G>T (n.1251+2548G>T) c.1222G>T (p.Ala408Ser) c.1039G>T (p.Ala347Ser) | |
1 | g.77936028C>A | CA340879450 | NEXN | c.1457C>A (p.Ala486Asp) c.1265C>A (p.Ala422Asp) c.1156C>A n.1031C>A c.1415C>A (p.Ala472Asp) c.1251+2549C>A (n.1251+2549C>A) c.1223C>A (p.Ala408Asp) c.1040C>A (p.Ala347Asp) | |
1 | g.77936028C= | CA1144228875 | NEXN | c.1457C= (p.Ala486=) c.1265C= (p.Ala422=) c.1156C= n.1031C= c.1415C= (p.Ala472=) c.1251+2549C= (n.1251+2549C=) c.1223C= (p.Ala408=) c.1040C= (p.Ala347=) | |
1 | g.77936028C>G | CA142119 | NEXN | c.1457C>G (p.Ala486Gly) c.1265C>G (p.Ala422Gly) c.1156C>G n.1031C>G c.1415C>G (p.Ala472Gly) c.1251+2549C>G (n.1251+2549C>G) c.1223C>G (p.Ala408Gly) c.1040C>G (p.Ala347Gly) | ClinVar dbSNP gnomAD v4 |
1 | g.77936028C>T | CA918881 | NEXN | c.1457C>T (p.Ala486Val) c.1265C>T (p.Ala422Val) c.1156C>T n.1031C>T c.1415C>T (p.Ala472Val) c.1251+2549C>T (n.1251+2549C>T) c.1223C>T (p.Ala408Val) c.1040C>T (p.Ala347Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77936029T>A | CA418709526 | NEXN | c.1458T>A (p.Ala486=) c.1266T>A (p.Ala422=) c.1157T>A n.1032T>A c.1416T>A (p.Ala472=) c.1251+2550T>A (n.1251+2550T>A) c.1224T>A (p.Ala408=) c.1041T>A (p.Ala347=) | |
1 | g.77936029T>C | CA418709528 | NEXN | c.1458T>C (p.Ala486=) c.1266T>C (p.Ala422=) c.1157T>C n.1032T>C c.1416T>C (p.Ala472=) c.1251+2550T>C (n.1251+2550T>C) c.1224T>C (p.Ala408=) c.1041T>C (p.Ala347=) | gnomAD v4 |
1 | g.77936029T>G | CA418709527 | NEXN | c.1458T>G (p.Ala486=) c.1266T>G (p.Ala422=) c.1157T>G n.1032T>G c.1416T>G (p.Ala472=) c.1251+2550T>G (n.1251+2550T>G) c.1224T>G (p.Ala408=) c.1041T>G (p.Ala347=) | |
1 | g.77936030G>A | CA340879452 | NEXN | c.1459G>A (p.Glu487Lys) c.1267G>A (p.Glu423Lys) c.1158G>A n.1033G>A c.1417G>A (p.Glu473Lys) c.1251+2551G>A (n.1251+2551G>A) c.1225G>A (p.Glu409Lys) c.1042G>A (p.Glu348Lys) | |
1 | g.77936030G>C | CA340879453 | NEXN | c.1459G>C (p.Glu487Gln) c.1267G>C (p.Glu423Gln) c.1158G>C n.1033G>C c.1417G>C (p.Glu473Gln) c.1251+2551G>C (n.1251+2551G>C) c.1225G>C (p.Glu409Gln) c.1042G>C (p.Glu348Gln) | |
1 | g.77936030G>T | CA340879454 | NEXN | c.1459G>T (p.Glu487Ter) c.1267G>T (p.Glu423Ter) c.1158G>T n.1033G>T c.1417G>T (p.Glu473Ter) c.1251+2551G>T (n.1251+2551G>T) c.1225G>T (p.Glu409Ter) c.1042G>T (p.Glu348Ter) | |
1 | g.77936031A= | CA1177628346 | NEXN | c.1460A= (p.Glu487=) c.1268A= (p.Glu423=) c.1159A= n.1034A= c.1418A= (p.Glu473=) c.1251+2552A= (n.1251+2552A=) c.1226A= (p.Glu409=) c.1043A= (p.Glu348=) | |
1 | g.77936031A>C | CA340879457 | NEXN | c.1460A>C (p.Glu487Ala) c.1268A>C (p.Glu423Ala) c.1159A>C n.1034A>C c.1418A>C (p.Glu473Ala) c.1251+2552A>C (n.1251+2552A>C) c.1226A>C (p.Glu409Ala) c.1043A>C (p.Glu348Ala) | |
1 | g.77936031A>G | CA340879455 | NEXN | c.1460A>G (p.Glu487Gly) c.1268A>G (p.Glu423Gly) c.1159A>G n.1034A>G c.1418A>G (p.Glu473Gly) c.1251+2552A>G (n.1251+2552A>G) c.1226A>G (p.Glu409Gly) c.1043A>G (p.Glu348Gly) | |
1 | g.77936031A>T | CA340879456 | NEXN | c.1460A>T (p.Glu487Val) c.1268A>T (p.Glu423Val) c.1159A>T n.1034A>T c.1418A>T (p.Glu473Val) c.1251+2552A>T (n.1251+2552A>T) c.1226A>T (p.Glu409Val) c.1043A>T (p.Glu348Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.77936032A>C | CA340879459 | NEXN | c.1461A>C (p.Glu487Asp) c.1269A>C (p.Glu423Asp) c.1160A>C n.1035A>C c.1419A>C (p.Glu473Asp) c.1251+2553A>C (n.1251+2553A>C) c.1227A>C (p.Glu409Asp) c.1044A>C (p.Glu348Asp) | |
1 | g.77936032A>G | CA418709532 | NEXN | c.1461A>G (p.Glu487=) c.1269A>G (p.Glu423=) c.1160A>G n.1035A>G c.1419A>G (p.Glu473=) c.1251+2553A>G (n.1251+2553A>G) c.1227A>G (p.Glu409=) c.1044A>G (p.Glu348=) | |
1 | g.77936032A>T | CA340879461 | NEXN | c.1461A>T (p.Glu487Asp) c.1269A>T (p.Glu423Asp) c.1160A>T n.1035A>T c.1419A>T (p.Glu473Asp) c.1251+2553A>T (n.1251+2553A>T) c.1227A>T (p.Glu409Asp) c.1044A>T (p.Glu348Asp) | |
1 | g.77936033A>C | CA340879465 | NEXN | c.1462A>C (p.Asn488His) c.1270A>C (p.Asn424His) c.1161A>C n.1036A>C c.1420A>C (p.Asn474His) c.1251+2554A>C (n.1251+2554A>C) c.1228A>C (p.Asn410His) c.1045A>C (p.Asn349His) | |
1 | g.77936033A>G | CA340879466 | NEXN | c.1462A>G (p.Asn488Asp) c.1270A>G (p.Asn424Asp) c.1161A>G n.1036A>G c.1420A>G (p.Asn474Asp) c.1251+2554A>G (n.1251+2554A>G) c.1228A>G (p.Asn410Asp) c.1045A>G (p.Asn349Asp) | |
1 | g.77936033A>T | CA340879468 | NEXN | c.1462A>T (p.Asn488Tyr) c.1270A>T (p.Asn424Tyr) c.1161A>T n.1036A>T c.1420A>T (p.Asn474Tyr) c.1251+2554A>T (n.1251+2554A>T) c.1228A>T (p.Asn410Tyr) c.1045A>T (p.Asn349Tyr) | |
1 | g.77936034A= | CA1177628347 | NEXN | c.1463A= (p.Asn488=) c.1271A= (p.Asn424=) c.1162A= n.1037A= c.1421A= (p.Asn474=) c.1251+2555A= (n.1251+2555A=) c.1229A= (p.Asn410=) c.1046A= (p.Asn349=) | |
1 | g.77936034A>C | CA340879470 | NEXN | c.1463A>C (p.Asn488Thr) c.1271A>C (p.Asn424Thr) c.1162A>C n.1037A>C c.1421A>C (p.Asn474Thr) c.1251+2555A>C (n.1251+2555A>C) c.1229A>C (p.Asn410Thr) c.1046A>C (p.Asn349Thr) | |
1 | g.77936034A>G | CA340879474 | NEXN | c.1463A>G (p.Asn488Ser) c.1271A>G (p.Asn424Ser) c.1162A>G n.1037A>G c.1421A>G (p.Asn474Ser) c.1251+2555A>G (n.1251+2555A>G) c.1229A>G (p.Asn410Ser) c.1046A>G (p.Asn349Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77936034A>T | CA340879476 | NEXN | c.1463A>T (p.Asn488Ile) c.1271A>T (p.Asn424Ile) c.1162A>T n.1037A>T c.1421A>T (p.Asn474Ile) c.1251+2555A>T (n.1251+2555A>T) c.1229A>T (p.Asn410Ile) c.1046A>T (p.Asn349Ile) | |
1 | g.77936035T>A | CA340879477 | NEXN | c.1464T>A (p.Asn488Lys) c.1272T>A (p.Asn424Lys) c.1163T>A n.1038T>A c.1422T>A (p.Asn474Lys) c.1251+2556T>A (n.1251+2556T>A) c.1230T>A (p.Asn410Lys) c.1047T>A (p.Asn349Lys) | |
1 | g.77936035T>C | CA418709534 | NEXN | c.1464T>C (p.Asn488=) c.1272T>C (p.Asn424=) c.1163T>C n.1038T>C c.1422T>C (p.Asn474=) c.1251+2556T>C (n.1251+2556T>C) c.1230T>C (p.Asn410=) c.1047T>C (p.Asn349=) | |
1 | g.77936035T>G | CA340879479 | NEXN | c.1464T>G (p.Asn488Lys) c.1272T>G (p.Asn424Lys) c.1163T>G n.1038T>G c.1422T>G (p.Asn474Lys) c.1251+2556T>G (n.1251+2556T>G) c.1230T>G (p.Asn410Lys) c.1047T>G (p.Asn349Lys) | |
1 | g.77936036T>A | CA340879480 | NEXN | c.1465T>A (p.Phe489Ile) c.1273T>A (p.Phe425Ile) c.1164T>A n.1039T>A c.1423T>A (p.Phe475Ile) c.1251+2557T>A (n.1251+2557T>A) c.1231T>A (p.Phe411Ile) c.1048T>A (p.Phe350Ile) | |
1 | g.77936036T>C | CA340879483 | NEXN | c.1465T>C (p.Phe489Leu) c.1273T>C (p.Phe425Leu) c.1164T>C n.1039T>C c.1423T>C (p.Phe475Leu) c.1251+2557T>C (n.1251+2557T>C) c.1231T>C (p.Phe411Leu) c.1048T>C (p.Phe350Leu) | gnomAD v4 |
1 | g.77936036T>G | CA340879485 | NEXN | c.1465T>G (p.Phe489Val) c.1273T>G (p.Phe425Val) c.1164T>G n.1039T>G c.1423T>G (p.Phe475Val) c.1251+2557T>G (n.1251+2557T>G) c.1231T>G (p.Phe411Val) c.1048T>G (p.Phe350Val) | |
1 | g.77936037T>A | CA340879486 | NEXN | c.1466T>A (p.Phe489Tyr) c.1274T>A (p.Phe425Tyr) c.1165T>A n.1040T>A c.1424T>A (p.Phe475Tyr) c.1251+2558T>A (n.1251+2558T>A) c.1232T>A (p.Phe411Tyr) c.1049T>A (p.Phe350Tyr) | |
1 | g.77936037T>C | CA340879489 | NEXN | c.1466T>C (p.Phe489Ser) c.1274T>C (p.Phe425Ser) c.1165T>C n.1040T>C c.1424T>C (p.Phe475Ser) c.1251+2558T>C (n.1251+2558T>C) c.1232T>C (p.Phe411Ser) c.1049T>C (p.Phe350Ser) | |
1 | g.77936037T>G | CA340879488 | NEXN | c.1466T>G (p.Phe489Cys) c.1274T>G (p.Phe425Cys) c.1165T>G n.1040T>G c.1424T>G (p.Phe475Cys) c.1251+2558T>G (n.1251+2558T>G) c.1232T>G (p.Phe411Cys) c.1049T>G (p.Phe350Cys) | |
1 | g.77936038T>A | CA340879491 | NEXN | c.1467T>A (p.Phe489Leu) c.1275T>A (p.Phe425Leu) c.1166T>A n.1041T>A c.1425T>A (p.Phe475Leu) c.1251+2559T>A (n.1251+2559T>A) c.1233T>A (p.Phe411Leu) c.1050T>A (p.Phe350Leu) | |
1 | g.77936038T>C | CA418709538 | NEXN | c.1467T>C (p.Phe489=) c.1275T>C (p.Phe425=) c.1166T>C n.1041T>C c.1425T>C (p.Phe475=) c.1251+2559T>C (n.1251+2559T>C) c.1233T>C (p.Phe411=) c.1050T>C (p.Phe350=) | |
1 | g.77936038T>G | CA340879493 | NEXN | c.1467T>G (p.Phe489Leu) c.1275T>G (p.Phe425Leu) c.1166T>G n.1041T>G c.1425T>G (p.Phe475Leu) c.1251+2559T>G (n.1251+2559T>G) c.1233T>G (p.Phe411Leu) c.1050T>G (p.Phe350Leu) | |
1 | g.77936039C>A | CA340879495 | NEXN | c.1468C>A (p.His490Asn) c.1276C>A (p.His426Asn) c.1167C>A n.1042C>A c.1426C>A (p.His476Asn) c.1251+2560C>A (n.1251+2560C>A) c.1234C>A (p.His412Asn) c.1051C>A (p.His351Asn) | |
1 | g.77936039C>G | CA340879498 | NEXN | c.1468C>G (p.His490Asp) c.1276C>G (p.His426Asp) c.1167C>G n.1042C>G c.1426C>G (p.His476Asp) c.1251+2560C>G (n.1251+2560C>G) c.1234C>G (p.His412Asp) c.1051C>G (p.His351Asp) | |
1 | g.77936039C>T | CA340879499 | NEXN | c.1468C>T (p.His490Tyr) c.1276C>T (p.His426Tyr) c.1167C>T n.1042C>T c.1426C>T (p.His476Tyr) c.1251+2560C>T (n.1251+2560C>T) c.1234C>T (p.His412Tyr) c.1051C>T (p.His351Tyr) | |
1 | g.77936040A= | CA1177628348 | NEXN | c.1469A= (p.His490=) c.1277A= (p.His426=) c.1168A= n.1043A= c.1427A= (p.His476=) c.1251+2561A= (n.1251+2561A=) c.1235A= (p.His412=) c.1052A= (p.His351=) | |
1 | g.77936040A>C | CA340879502 | NEXN | c.1469A>C (p.His490Pro) c.1277A>C (p.His426Pro) c.1168A>C n.1043A>C c.1427A>C (p.His476Pro) c.1251+2561A>C (n.1251+2561A>C) c.1235A>C (p.His412Pro) c.1052A>C (p.His351Pro) | |
1 | g.77936040A>G | CA918882 | NEXN | c.1469A>G (p.His490Arg) c.1277A>G (p.His426Arg) c.1168A>G n.1043A>G c.1427A>G (p.His476Arg) c.1251+2561A>G (n.1251+2561A>G) c.1235A>G (p.His412Arg) c.1052A>G (p.His351Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77936040A>T | CA340879504 | NEXN | c.1469A>T (p.His490Leu) c.1277A>T (p.His426Leu) c.1168A>T n.1043A>T c.1427A>T (p.His476Leu) c.1251+2561A>T (n.1251+2561A>T) c.1235A>T (p.His412Leu) c.1052A>T (p.His351Leu) | |
1 | g.77936041T>A | CA340879505 | NEXN | c.1470T>A (p.His490Gln) c.1278T>A (p.His426Gln) c.1169T>A n.1044T>A c.1428T>A (p.His476Gln) c.1251+2562T>A (n.1251+2562T>A) c.1236T>A (p.His412Gln) c.1053T>A (p.His351Gln) | |
1 | g.77936041T>C | CA418709542 | NEXN | c.1470T>C (p.His490=) c.1278T>C (p.His426=) c.1169T>C n.1044T>C c.1428T>C (p.His476=) c.1251+2562T>C (n.1251+2562T>C) c.1236T>C (p.His412=) c.1053T>C (p.His351=) | |
1 | g.77936041T>G | CA340879506 | NEXN | c.1470T>G (p.His490Gln) c.1278T>G (p.His426Gln) c.1169T>G n.1044T>G c.1428T>G (p.His476Gln) c.1251+2562T>G (n.1251+2562T>G) c.1236T>G (p.His412Gln) c.1053T>G (p.His351Gln) | |
1 | g.77936042G>A | CA340879507 | NEXN | c.1471G>A (p.Glu491Lys) c.1279G>A (p.Glu427Lys) c.1170G>A n.1045G>A c.1429G>A (p.Glu477Lys) c.1251+2563G>A (n.1251+2563G>A) c.1237G>A (p.Glu413Lys) c.1054G>A (p.Glu352Lys) | gnomAD v4 |
1 | g.77936042G>C | CA335418 | NEXN | c.1471G>C (p.Glu491Gln) c.1279G>C (p.Glu427Gln) c.1170G>C n.1045G>C c.1429G>C (p.Glu477Gln) c.1251+2563G>C (n.1251+2563G>C) c.1237G>C (p.Glu413Gln) c.1054G>C (p.Glu352Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77936042G= | CA1143903623 | NEXN | c.1471G= (p.Glu491=) c.1279G= (p.Glu427=) c.1170G= n.1045G= c.1429G= (p.Glu477=) c.1251+2563G= (n.1251+2563G=) c.1237G= (p.Glu413=) c.1054G= (p.Glu352=) | |
1 | g.77936042G>T | CA340879510 | NEXN | c.1471G>T (p.Glu491Ter) c.1279G>T (p.Glu427Ter) c.1170G>T n.1045G>T c.1429G>T (p.Glu477Ter) c.1251+2563G>T (n.1251+2563G>T) c.1237G>T (p.Glu413Ter) c.1054G>T (p.Glu352Ter) | |
1 | g.77936043A>C | CA340879512 | NEXN | c.1472A>C (p.Glu491Ala) c.1280A>C (p.Glu427Ala) c.1171A>C n.1046A>C c.1430A>C (p.Glu477Ala) c.1251+2564A>C (n.1251+2564A>C) c.1238A>C (p.Glu413Ala) c.1055A>C (p.Glu352Ala) | |
1 | g.77936043A>G | CA340879515 | NEXN | c.1472A>G (p.Glu491Gly) c.1280A>G (p.Glu427Gly) c.1171A>G n.1046A>G c.1430A>G (p.Glu477Gly) c.1251+2564A>G (n.1251+2564A>G) c.1238A>G (p.Glu413Gly) c.1055A>G (p.Glu352Gly) | |
1 | g.77936043A>T | CA340879513 | NEXN | c.1472A>T (p.Glu491Val) c.1280A>T (p.Glu427Val) c.1171A>T n.1046A>T c.1430A>T (p.Glu477Val) c.1251+2564A>T (n.1251+2564A>T) c.1238A>T (p.Glu413Val) c.1055A>T (p.Glu352Val) | |
1 | g.77936044G>A | CA918883 | NEXN | c.1473G>A (p.Glu491=) c.1281G>A (p.Glu427=) c.1172G>A n.1047G>A c.1431G>A (p.Glu477=) c.1251+2565G>A (n.1251+2565G>A) c.1239G>A (p.Glu413=) c.1056G>A (p.Glu352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.77936044G>C | CA340879517 | NEXN | c.1473G>C (p.Glu491Asp) c.1281G>C (p.Glu427Asp) c.1172G>C n.1047G>C c.1431G>C (p.Glu477Asp) c.1251+2565G>C (n.1251+2565G>C) c.1239G>C (p.Glu413Asp) c.1056G>C (p.Glu352Asp) | |
1 | g.77936044G= | CA1177628349 | NEXN | c.1473G= (p.Glu491=) c.1281G= (p.Glu427=) c.1172G= n.1047G= c.1431G= (p.Glu477=) c.1251+2565G= (n.1251+2565G=) c.1239G= (p.Glu413=) c.1056G= (p.Glu352=) | |
1 | g.77936044G>T | CA340879520 | NEXN | c.1473G>T (p.Glu491Asp) c.1281G>T (p.Glu427Asp) c.1172G>T n.1047G>T c.1431G>T (p.Glu477Asp) c.1251+2565G>T (n.1251+2565G>T) c.1239G>T (p.Glu413Asp) c.1056G>T (p.Glu352Asp) | gnomAD v4 |
1 | g.77936045G>A | CA340879521 | NEXN | c.1473+1G>A (n.1473+1G>A) c.1281+1G>A (n.1281+1G>A) c.1172+1G>A n.1047+1G>A c.1431+1G>A (n.1431+1G>A) c.1251+2566G>A (n.1251+2566G>A) c.1239+1G>A (n.1239+1G>A) c.1056+1G>A (n.1056+1G>A) | dbSNP |
1 | g.77936045G>C | CA340879522 | NEXN | c.1473+1G>C (n.1473+1G>C) c.1281+1G>C (n.1281+1G>C) c.1172+1G>C n.1047+1G>C c.1431+1G>C (n.1431+1G>C) c.1251+2566G>C (n.1251+2566G>C) c.1239+1G>C (n.1239+1G>C) c.1056+1G>C (n.1056+1G>C) | |
1 | g.77936045G= | CA1177628350 | NEXN | c.1473+1G= (n.1473+1G=) c.1281+1G= (n.1281+1G=) c.1172+1G= n.1047+1G= c.1431+1G= (n.1431+1G=) c.1251+2566G= (n.1251+2566G=) c.1239+1G= (n.1239+1G=) c.1056+1G= (n.1056+1G=) | |
1 | g.77936045G>T | CA340879523 | NEXN | c.1473+1G>T (n.1473+1G>T) c.1281+1G>T (n.1281+1G>T) c.1172+1G>T n.1047+1G>T c.1431+1G>T (n.1431+1G>T) c.1251+2566G>T (n.1251+2566G>T) c.1239+1G>T (n.1239+1G>T) c.1056+1G>T (n.1056+1G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.77936046T>A | CA340879526 | NEXN | c.1473+2T>A (n.1473+2T>A) c.1281+2T>A (n.1281+2T>A) c.1172+2T>A n.1047+2T>A c.1431+2T>A (n.1431+2T>A) c.1251+2567T>A (n.1251+2567T>A) c.1239+2T>A (n.1239+2T>A) c.1056+2T>A (n.1056+2T>A) | |
1 | g.77936046T>C | CA340879528 | NEXN | c.1473+2T>C (n.1473+2T>C) c.1281+2T>C (n.1281+2T>C) c.1172+2T>C n.1047+2T>C c.1431+2T>C (n.1431+2T>C) c.1251+2567T>C (n.1251+2567T>C) c.1239+2T>C (n.1239+2T>C) c.1056+2T>C (n.1056+2T>C) | |
1 | g.77936046T>G | CA340879529 | NEXN | c.1473+2T>G (n.1473+2T>G) c.1281+2T>G (n.1281+2T>G) c.1172+2T>G n.1047+2T>G c.1431+2T>G (n.1431+2T>G) c.1251+2567T>G (n.1251+2567T>G) c.1239+2T>G (n.1239+2T>G) c.1056+2T>G (n.1056+2T>G) | |
1 | g.77936046T= | CA1177628351 | NEXN | c.1473+2T= (n.1473+2T=) c.1281+2T= (n.1281+2T=) c.1172+2T= n.1047+2T= c.1431+2T= (n.1431+2T=) c.1251+2567T= (n.1251+2567T=) c.1239+2T= (n.1239+2T=) c.1056+2T= (n.1056+2T=) |