| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.77933365A= | CA1177626724 | NEXN | c.1137A= (p.Glu379=) c.945A= (p.Glu315=) c.836A= c.1095A= (p.Glu365=) n.597A= n.711A= c.903A= (p.Glu301=) c.720A= (p.Glu240=) | |
| 1 | g.77933365A>C | CA340876834 | NEXN | c.1137A>C (p.Glu379Asp) c.945A>C (p.Glu315Asp) c.836A>C c.1095A>C (p.Glu365Asp) n.597A>C n.711A>C c.903A>C (p.Glu301Asp) c.720A>C (p.Glu240Asp) | |
| 1 | g.77933365A>G | CA418572078 | NEXN | c.1137A>G (p.Glu379=) c.945A>G (p.Glu315=) c.836A>G c.1095A>G (p.Glu365=) n.597A>G n.711A>G c.903A>G (p.Glu301=) c.720A>G (p.Glu240=) | ClinVar dbSNP |
| 1 | g.77933365A>T | CA340876836 | NEXN | c.1137A>T (p.Glu379Asp) c.945A>T (p.Glu315Asp) c.836A>T c.1095A>T (p.Glu365Asp) n.597A>T n.711A>T c.903A>T (p.Glu301Asp) c.720A>T (p.Glu240Asp) | |
| 1 | g.77933366G>A | CA340876838 | NEXN | c.1138G>A (p.Glu380Lys) c.946G>A (p.Glu316Lys) c.837G>A c.1096G>A (p.Glu366Lys) n.598G>A n.712G>A c.904G>A (p.Glu302Lys) c.721G>A (p.Glu241Lys) | |
| 1 | g.77933366G>C | CA340876840 | NEXN | c.1138G>C (p.Glu380Gln) c.946G>C (p.Glu316Gln) c.837G>C c.1096G>C (p.Glu366Gln) n.598G>C n.712G>C c.904G>C (p.Glu302Gln) c.721G>C (p.Glu241Gln) | |
| 1 | g.77933366G>T | CA340876842 | NEXN | c.1138G>T (p.Glu380Ter) c.946G>T (p.Glu316Ter) c.837G>T c.1096G>T (p.Glu366Ter) n.598G>T n.712G>T c.904G>T (p.Glu302Ter) c.721G>T (p.Glu241Ter) | |
| 1 | g.77933366_77933369delinsGAAT | CA1177626725 | NEXN | c.1138_1141delinsGAAT (p.Glu380=) c.946_949delinsGAAT (p.Glu316=) c.837_840delinsGAAT c.1096_1099delinsGAAT (p.Glu366=) n.598_601delinsGAAT n.712_715delinsGAAT c.904_907delinsGAAT (p.Glu302=) c.721_724delinsGAAT (p.Glu241=) | |
| 1 | g.77933367A= | CA1177626728 | NEXN | c.1139A= (p.Glu380=) c.947A= (p.Glu316=) c.838A= c.1097A= (p.Glu366=) n.599A= n.713A= c.905A= (p.Glu302=) c.722A= (p.Glu241=) | |
| 1 | g.77933367A>C | CA340876843 | NEXN | c.1139A>C (p.Glu380Ala) c.947A>C (p.Glu316Ala) c.838A>C c.1097A>C (p.Glu366Ala) n.599A>C n.713A>C c.905A>C (p.Glu302Ala) c.722A>C (p.Glu241Ala) | |
| 1 | g.77933367A>G | CA340876846 | NEXN | c.1139A>G (p.Glu380Gly) c.947A>G (p.Glu316Gly) c.838A>G c.1097A>G (p.Glu366Gly) n.599A>G n.713A>G c.905A>G (p.Glu302Gly) c.722A>G (p.Glu241Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.77933367A>T | CA340876852 | NEXN | c.1139A>T (p.Glu380Val) c.947A>T (p.Glu316Val) c.838A>T c.1097A>T (p.Glu366Val) n.599A>T n.713A>T c.905A>T (p.Glu302Val) c.722A>T (p.Glu241Val) | dbSNP gnomAD v4 |
| 1 | g.77933367_77933369del | CA1177626730 | NEXN | c.1139_1141del (p.Glu380_Leu381delinsVal) c.947_949del (p.Glu316_Leu317delinsVal) c.838_840del c.1097_1099del (p.Glu366_Leu367delinsVal) n.599_601del n.713_715del c.905_907del (p.Glu302_Leu303delinsVal) c.722_724del (p.Glu241_Leu242delinsVal) | dbSNP gnomAD v4 |
| 1 | g.77933368_77933371del | CA2574414089 | NEXN | c.1140_1143del (p.Glu380AspfsTer2) c.948_951del (p.Glu316AspfsTer2) c.839_842del c.1098_1101del (p.Glu366AspfsTer2) n.600_603del n.714_717del c.906_909del (p.Glu302AspfsTer2) c.723_726del (p.Glu241AspfsTer2) | gnomAD v4 |
| 1 | g.77933368A>C | CA340876853 | NEXN | c.1140A>C (p.Glu380Asp) c.948A>C (p.Glu316Asp) c.839A>C c.1098A>C (p.Glu366Asp) n.600A>C n.714A>C c.906A>C (p.Glu302Asp) c.723A>C (p.Glu241Asp) | |
| 1 | g.77933368A>G | CA418572079 | NEXN | c.1140A>G (p.Glu380=) c.948A>G (p.Glu316=) c.839A>G c.1098A>G (p.Glu366=) n.600A>G n.714A>G c.906A>G (p.Glu302=) c.723A>G (p.Glu241=) | ClinVar |
| 1 | g.77933368A>T | CA340876854 | NEXN | c.1140A>T (p.Glu380Asp) c.948A>T (p.Glu316Asp) c.839A>T c.1098A>T (p.Glu366Asp) n.600A>T n.714A>T c.906A>T (p.Glu302Asp) c.723A>T (p.Glu241Asp) | |
| 1 | g.77933372_77933374del | CA2646274520 | NEXN | c.1144_1146del (p.Leu382del) c.952_954del (p.Leu318del) c.843_845del c.1102_1104del (p.Leu368del) n.604_606del n.718_720del c.910_912del (p.Leu304del) c.727_729del (p.Leu243del) | gnomAD v4 |
| 1 | g.77933369T>A | CA340876855 | NEXN | c.1141T>A (p.Leu381Ile) c.949T>A (p.Leu317Ile) c.840T>A c.1099T>A (p.Leu367Ile) n.601T>A n.715T>A c.907T>A (p.Leu303Ile) c.724T>A (p.Leu242Ile) | |
| 1 | g.77933369T>C | CA418572080 | NEXN | c.1141T>C (p.Leu381=) c.949T>C (p.Leu317=) c.840T>C c.1099T>C (p.Leu367=) n.601T>C n.715T>C c.907T>C (p.Leu303=) c.724T>C (p.Leu242=) | |
| 1 | g.77933369T>G | CA340876856 | NEXN | c.1141T>G (p.Leu381Val) c.949T>G (p.Leu317Val) c.840T>G c.1099T>G (p.Leu367Val) n.601T>G n.715T>G c.907T>G (p.Leu303Val) c.724T>G (p.Leu242Val) | dbSNP gnomAD v4 |
| 1 | g.77933369T= | CA1177626731 | NEXN | c.1141T= (p.Leu381=) c.949T= (p.Leu317=) c.840T= c.1099T= (p.Leu367=) n.601T= n.715T= c.907T= (p.Leu303=) c.724T= (p.Leu242=) | |
| 1 | g.77933370T>A | CA340876857 | NEXN | c.1142T>A (p.Leu381Ter) c.950T>A (p.Leu317Ter) c.841T>A c.1100T>A (p.Leu367Ter) n.602T>A n.716T>A c.908T>A (p.Leu303Ter) c.725T>A (p.Leu242Ter) | |
| 1 | g.77933370T>C | CA340876858 | NEXN | c.1142T>C (p.Leu381Ser) c.950T>C (p.Leu317Ser) c.841T>C c.1100T>C (p.Leu367Ser) n.602T>C n.716T>C c.908T>C (p.Leu303Ser) c.725T>C (p.Leu242Ser) | |
| 1 | g.77933370T>G | CA340876860 | NEXN | c.1142T>G (p.Leu381Ter) c.950T>G (p.Leu317Ter) c.841T>G c.1100T>G (p.Leu367Ter) n.602T>G n.716T>G c.908T>G (p.Leu303Ter) c.725T>G (p.Leu242Ter) | |
| 1 | g.77933371A>C | CA340876864 | NEXN | c.1143A>C (p.Leu381Phe) c.951A>C (p.Leu317Phe) c.842A>C c.1101A>C (p.Leu367Phe) n.603A>C n.717A>C c.909A>C (p.Leu303Phe) c.726A>C (p.Leu242Phe) | |
| 1 | g.77933371A>G | CA418572081 | NEXN | c.1143A>G (p.Leu381=) c.951A>G (p.Leu317=) c.842A>G c.1101A>G (p.Leu367=) n.603A>G n.717A>G c.909A>G (p.Leu303=) c.726A>G (p.Leu242=) | gnomAD v4 |
| 1 | g.77933371A>T | CA340876867 | NEXN | c.1143A>T (p.Leu381Phe) c.951A>T (p.Leu317Phe) c.842A>T c.1101A>T (p.Leu367Phe) n.603A>T n.717A>T c.909A>T (p.Leu303Phe) c.726A>T (p.Leu242Phe) | ClinVar dbSNP |
| 1 | g.77933372T>A | CA340876870 | NEXN | c.1144T>A (p.Leu382Ile) c.952T>A (p.Leu318Ile) c.843T>A c.1102T>A (p.Leu368Ile) n.604T>A n.718T>A c.910T>A (p.Leu304Ile) c.727T>A (p.Leu243Ile) | |
| 1 | g.77933372T>C | CA418572082 | NEXN | c.1144T>C (p.Leu382=) c.952T>C (p.Leu318=) c.843T>C c.1102T>C (p.Leu368=) n.604T>C n.718T>C c.910T>C (p.Leu304=) c.727T>C (p.Leu243=) | ClinVar gnomAD v4 |
| 1 | g.77933372T>G | CA340876874 | NEXN | c.1144T>G (p.Leu382Val) c.952T>G (p.Leu318Val) c.843T>G c.1102T>G (p.Leu368Val) n.604T>G n.718T>G c.910T>G (p.Leu304Val) c.727T>G (p.Leu243Val) | |
| 1 | g.77933373T>A | CA340876876 | NEXN | c.1145T>A (p.Leu382Ter) c.953T>A (p.Leu318Ter) c.844T>A c.1103T>A (p.Leu368Ter) n.605T>A n.719T>A c.911T>A (p.Leu304Ter) c.728T>A (p.Leu243Ter) | |
| 1 | g.77933373T>C | CA340876878 | NEXN | c.1145T>C (p.Leu382Ser) c.953T>C (p.Leu318Ser) c.844T>C c.1103T>C (p.Leu368Ser) n.605T>C n.719T>C c.911T>C (p.Leu304Ser) c.728T>C (p.Leu243Ser) | |
| 1 | g.77933373T>G | CA340876879 | NEXN | c.1145T>G (p.Leu382Ter) c.953T>G (p.Leu318Ter) c.844T>G c.1103T>G (p.Leu368Ter) n.605T>G n.719T>G c.911T>G (p.Leu304Ter) c.728T>G (p.Leu243Ter) | |
| 1 | g.77933374A>C | CA340876881 | NEXN | c.1146A>C (p.Leu382Phe) c.954A>C (p.Leu318Phe) c.845A>C c.1104A>C (p.Leu368Phe) n.606A>C n.720A>C c.912A>C (p.Leu304Phe) c.729A>C (p.Leu243Phe) | |
| 1 | g.77933374A>G | CA418572083 | NEXN | c.1146A>G (p.Leu382=) c.954A>G (p.Leu318=) c.845A>G c.1104A>G (p.Leu368=) n.606A>G n.720A>G c.912A>G (p.Leu304=) c.729A>G (p.Leu243=) | |
| 1 | g.77933374A>T | CA340876882 | NEXN | c.1146A>T (p.Leu382Phe) c.954A>T (p.Leu318Phe) c.845A>T c.1104A>T (p.Leu368Phe) n.606A>T n.720A>T c.912A>T (p.Leu304Phe) c.729A>T (p.Leu243Phe) | |
| 1 | g.77933377del | CA2574414090 | NEXN | c.1149del (p.Lys383AsnfsTer19) c.957del (p.Lys319AsnfsTer19) c.848del c.957del (p.Lys319AsnfsTer?) c.1107del (p.Lys369AsnfsTer19) n.609del n.723del c.915del (p.Lys305AsnfsTer19) c.732del (p.Lys244AsnfsTer19) | |
| 1 | g.77933378_77933382del | CA2646274521 | NEXN | c.1150_1154del (p.Gln384AsnfsTer15) c.958_962del (p.Gln320AsnfsTer15) c.849_853del c.958_962del (p.Gln320=) c.1108_1112del (p.Gln370AsnfsTer15) n.610_614del n.724_728del c.916_920del (p.Gln306AsnfsTer15) c.733_737del (p.Gln245AsnfsTer15) | gnomAD v4 |
| 1 | g.77933375A>C | CA340876884 | NEXN | c.1147A>C (p.Lys383Gln) c.955A>C (p.Lys319Gln) c.846A>C c.1105A>C (p.Lys369Gln) n.607A>C n.721A>C c.913A>C (p.Lys305Gln) c.730A>C (p.Lys244Gln) | |
| 1 | g.77933375A>G | CA340876887 | NEXN | c.1147A>G (p.Lys383Glu) c.955A>G (p.Lys319Glu) c.846A>G c.1105A>G (p.Lys369Glu) n.607A>G n.721A>G c.913A>G (p.Lys305Glu) c.730A>G (p.Lys244Glu) | |
| 1 | g.77933375A>T | CA340876885 | NEXN | c.1147A>T (p.Lys383Ter) c.955A>T (p.Lys319Ter) c.846A>T c.1105A>T (p.Lys369Ter) n.607A>T n.721A>T c.913A>T (p.Lys305Ter) c.730A>T (p.Lys244Ter) | |
| 1 | g.77933376A>C | CA340876888 | NEXN | c.1148A>C (p.Lys383Thr) c.956A>C (p.Lys319Thr) c.847A>C c.1106A>C (p.Lys369Thr) n.608A>C n.722A>C c.914A>C (p.Lys305Thr) c.731A>C (p.Lys244Thr) | |
| 1 | g.77933376A>G | CA340876891 | NEXN | c.1148A>G (p.Lys383Arg) c.956A>G (p.Lys319Arg) c.847A>G c.1106A>G (p.Lys369Arg) n.608A>G n.722A>G c.914A>G (p.Lys305Arg) c.731A>G (p.Lys244Arg) | |
| 1 | g.77933376A>T | CA340876893 | NEXN | c.1148A>T (p.Lys383Ile) c.956A>T (p.Lys319Ile) c.847A>T c.1106A>T (p.Lys369Ile) n.608A>T n.722A>T c.914A>T (p.Lys305Ile) c.731A>T (p.Lys244Ile) | gnomAD v4 |
| 1 | g.77933377A= | CA1144428595 | NEXN | c.1149A= (p.Lys383=) c.957A= (p.Lys319=) c.848A= c.1107A= (p.Lys369=) n.609A= n.723A= c.915A= (p.Lys305=) c.732A= (p.Lys244=) | |
| 1 | g.77933377A>C | CA340876894 | NEXN | c.1149A>C (p.Lys383Asn) c.957A>C (p.Lys319Asn) c.848A>C c.1107A>C (p.Lys369Asn) n.609A>C n.723A>C c.915A>C (p.Lys305Asn) c.732A>C (p.Lys244Asn) | |
| 1 | g.77933377A>G | CA24684218 | NEXN | c.1149A>G (p.Lys383=) c.957A>G (p.Lys319=) c.848A>G c.1107A>G (p.Lys369=) n.609A>G n.723A>G c.915A>G (p.Lys305=) c.732A>G (p.Lys244=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.77933377A>T | CA340876897 | NEXN | c.1149A>T (p.Lys383Asn) c.957A>T (p.Lys319Asn) c.848A>T c.1107A>T (p.Lys369Asn) n.609A>T n.723A>T c.915A>T (p.Lys305Asn) c.732A>T (p.Lys244Asn) | |
| 1 | g.77933378C>A | CA340876899 | NEXN | c.1150C>A (p.Gln384Lys) c.958C>A (p.Gln320Lys) c.849C>A c.1108C>A (p.Gln370Lys) n.610C>A n.724C>A c.916C>A (p.Gln306Lys) c.733C>A (p.Gln245Lys) | gnomAD v3 gnomAD v4 |