Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.6473010C>A | CA338133558 | PLEKHG5 | c.960G>T (p.Trp320Cys) c.1134G>T (p.Trp378Cys) c.1071G>T (p.Trp357Cys) n.1436G>T c.1167G>T (p.Trp389Cys) c.1257G>T (p.Trp419Cys) c.*1172G>T (n.*1172G>T) c.*788G>T (n.*788G>T) c.1191G>T (p.Trp397Cys) c.1128G>T (p.Trp376Cys) c.1197G>T (p.Trp399Cys) | |
1 | g.6473010C>G | CA338133561 | PLEKHG5 | c.960G>C (p.Trp320Cys) c.1134G>C (p.Trp378Cys) c.1071G>C (p.Trp357Cys) n.1436G>C c.1167G>C (p.Trp389Cys) c.1257G>C (p.Trp419Cys) c.*1172G>C (n.*1172G>C) c.*788G>C (n.*788G>C) c.1191G>C (p.Trp397Cys) c.1128G>C (p.Trp376Cys) c.1197G>C (p.Trp399Cys) | |
1 | g.6473010C>T | CA338133563 | PLEKHG5 | c.960G>A (p.Trp320Ter) c.1134G>A (p.Trp378Ter) c.1071G>A (p.Trp357Ter) n.1436G>A c.1167G>A (p.Trp389Ter) c.1257G>A (p.Trp419Ter) c.*1172G>A (n.*1172G>A) c.*788G>A (n.*788G>A) c.1191G>A (p.Trp397Ter) c.1128G>A (p.Trp376Ter) c.1197G>A (p.Trp399Ter) | |
1 | g.6473011C>A | CA338133571 | PLEKHG5 | c.959G>T (p.Trp320Leu) c.1133G>T (p.Trp378Leu) c.1070G>T (p.Trp357Leu) n.1435G>T c.1166G>T (p.Trp389Leu) c.1256G>T (p.Trp419Leu) c.*1171G>T (n.*1171G>T) c.*787G>T (n.*787G>T) c.1190G>T (p.Trp397Leu) c.1127G>T (p.Trp376Leu) c.1196G>T (p.Trp399Leu) | |
1 | g.6473011C>G | CA338133569 | PLEKHG5 | c.959G>C (p.Trp320Ser) c.1133G>C (p.Trp378Ser) c.1070G>C (p.Trp357Ser) n.1435G>C c.1166G>C (p.Trp389Ser) c.1256G>C (p.Trp419Ser) c.*1171G>C (n.*1171G>C) c.*787G>C (n.*787G>C) c.1190G>C (p.Trp397Ser) c.1127G>C (p.Trp376Ser) c.1196G>C (p.Trp399Ser) | |
1 | g.6473011C>T | CA338133567 | PLEKHG5 | c.959G>A (p.Trp320Ter) c.1133G>A (p.Trp378Ter) c.1070G>A (p.Trp357Ter) n.1435G>A c.1166G>A (p.Trp389Ter) c.1256G>A (p.Trp419Ter) c.*1171G>A (n.*1171G>A) c.*787G>A (n.*787G>A) c.1190G>A (p.Trp397Ter) c.1127G>A (p.Trp376Ter) c.1196G>A (p.Trp399Ter) | gnomAD v4 |
1 | g.6473012A>C | CA338133574 | PLEKHG5 | c.958T>G (p.Trp320Gly) c.1132T>G (p.Trp378Gly) c.1069T>G (p.Trp357Gly) n.1434T>G c.1165T>G (p.Trp389Gly) c.1255T>G (p.Trp419Gly) c.*1170T>G (n.*1170T>G) c.*786T>G (n.*786T>G) c.1189T>G (p.Trp397Gly) c.1126T>G (p.Trp376Gly) c.1195T>G (p.Trp399Gly) | |
1 | g.6473012A>G | CA338133584 | PLEKHG5 | c.958T>C (p.Trp320Arg) c.1132T>C (p.Trp378Arg) c.1069T>C (p.Trp357Arg) n.1434T>C c.1165T>C (p.Trp389Arg) c.1255T>C (p.Trp419Arg) c.*1170T>C (n.*1170T>C) c.*786T>C (n.*786T>C) c.1189T>C (p.Trp397Arg) c.1126T>C (p.Trp376Arg) c.1195T>C (p.Trp399Arg) | |
1 | g.6473012A>T | CA338133587 | PLEKHG5 | c.958T>A (p.Trp320Arg) c.1132T>A (p.Trp378Arg) c.1069T>A (p.Trp357Arg) n.1434T>A c.1165T>A (p.Trp389Arg) c.1255T>A (p.Trp419Arg) c.*1170T>A (n.*1170T>A) c.*786T>A (n.*786T>A) c.1189T>A (p.Trp397Arg) c.1126T>A (p.Trp376Arg) c.1195T>A (p.Trp399Arg) | |
1 | g.6473013G>A | CA415833352 | PLEKHG5 | c.957C>T (p.Ser319=) c.1131C>T (p.Ser377=) c.1068C>T (p.Ser356=) n.1433C>T c.1164C>T (p.Ser388=) c.1254C>T (p.Ser418=) c.*1169C>T (n.*1169C>T) c.*785C>T (n.*785C>T) c.1188C>T (p.Ser396=) c.1125C>T (p.Ser375=) c.1194C>T (p.Ser398=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6473013G>C | CA338133594 | PLEKHG5 | c.957C>G (p.Ser319Arg) c.1131C>G (p.Ser377Arg) c.1068C>G (p.Ser356Arg) n.1433C>G c.1164C>G (p.Ser388Arg) c.1254C>G (p.Ser418Arg) c.*1169C>G (n.*1169C>G) c.*785C>G (n.*785C>G) c.1188C>G (p.Ser396Arg) c.1125C>G (p.Ser375Arg) c.1194C>G (p.Ser398Arg) | |
1 | g.6473013G= | CA1151502710 | PLEKHG5 | c.957C= (p.Ser319=) c.1131C= (p.Ser377=) c.1068C= (p.Ser356=) n.1433C= c.1164C= (p.Ser388=) c.1254C= (p.Ser418=) c.*1169C= (n.*1169C=) c.*785C= (n.*785C=) c.1188C= (p.Ser396=) c.1125C= (p.Ser375=) c.1194C= (p.Ser398=) | |
1 | g.6473013G>T | CA338133599 | PLEKHG5 | c.957C>A (p.Ser319Arg) c.1131C>A (p.Ser377Arg) c.1068C>A (p.Ser356Arg) n.1433C>A c.1164C>A (p.Ser388Arg) c.1254C>A (p.Ser418Arg) c.*1169C>A (n.*1169C>A) c.*785C>A (n.*785C>A) c.1188C>A (p.Ser396Arg) c.1125C>A (p.Ser375Arg) c.1194C>A (p.Ser398Arg) | |
1 | g.6473014C>A | CA338133603 | PLEKHG5 | c.956G>T (p.Ser319Ile) c.1130G>T (p.Ser377Ile) c.1067G>T (p.Ser356Ile) n.1432G>T c.1163G>T (p.Ser388Ile) c.1253G>T (p.Ser418Ile) c.*1168G>T (n.*1168G>T) c.*784G>T (n.*784G>T) c.1187G>T (p.Ser396Ile) c.1124G>T (p.Ser375Ile) c.1193G>T (p.Ser398Ile) | |
1 | g.6473014C= | CA1151502716 | PLEKHG5 | c.956G= (p.Ser319=) c.1130G= (p.Ser377=) c.1067G= (p.Ser356=) n.1432G= c.1163G= (p.Ser388=) c.1253G= (p.Ser418=) c.*1168G= (n.*1168G=) c.*784G= (n.*784G=) c.1187G= (p.Ser396=) c.1124G= (p.Ser375=) c.1193G= (p.Ser398=) | |
1 | g.6473014C>G | CA338133604 | PLEKHG5 | c.956G>C (p.Ser319Thr) c.1130G>C (p.Ser377Thr) c.1067G>C (p.Ser356Thr) n.1432G>C c.1163G>C (p.Ser388Thr) c.1253G>C (p.Ser418Thr) c.*1168G>C (n.*1168G>C) c.*784G>C (n.*784G>C) c.1187G>C (p.Ser396Thr) c.1124G>C (p.Ser375Thr) c.1193G>C (p.Ser398Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6473014C>T | CA338133606 | PLEKHG5 | c.956G>A (p.Ser319Asn) c.1130G>A (p.Ser377Asn) c.1067G>A (p.Ser356Asn) n.1432G>A c.1163G>A (p.Ser388Asn) c.1253G>A (p.Ser418Asn) c.*1168G>A (n.*1168G>A) c.*784G>A (n.*784G>A) c.1187G>A (p.Ser396Asn) c.1124G>A (p.Ser375Asn) c.1193G>A (p.Ser398Asn) | |
1 | g.6473015T>A | CA338133609 | PLEKHG5 | c.955A>T (p.Ser319Cys) c.1129A>T (p.Ser377Cys) c.1066A>T (p.Ser356Cys) n.1431A>T c.1162A>T (p.Ser388Cys) c.1252A>T (p.Ser418Cys) c.*1167A>T (n.*1167A>T) c.*783A>T (n.*783A>T) c.1186A>T (p.Ser396Cys) c.1123A>T (p.Ser375Cys) c.1192A>T (p.Ser398Cys) | |
1 | g.6473015T>C | CA338133612 | PLEKHG5 | c.955A>G (p.Ser319Gly) c.1129A>G (p.Ser377Gly) c.1066A>G (p.Ser356Gly) n.1431A>G c.1162A>G (p.Ser388Gly) c.1252A>G (p.Ser418Gly) c.*1167A>G (n.*1167A>G) c.*783A>G (n.*783A>G) c.1186A>G (p.Ser396Gly) c.1123A>G (p.Ser375Gly) c.1192A>G (p.Ser398Gly) | |
1 | g.6473015T>G | CA338133615 | PLEKHG5 | c.955A>C (p.Ser319Arg) c.1129A>C (p.Ser377Arg) c.1066A>C (p.Ser356Arg) n.1431A>C c.1162A>C (p.Ser388Arg) c.1252A>C (p.Ser418Arg) c.*1167A>C (n.*1167A>C) c.*783A>C (n.*783A>C) c.1186A>C (p.Ser396Arg) c.1123A>C (p.Ser375Arg) c.1192A>C (p.Ser398Arg) | |
1 | g.6473016G>A | CA415833365 | PLEKHG5 | c.954C>T (p.Asp318=) c.1128C>T (p.Asp376=) c.1065C>T (p.Asp355=) n.1430C>T c.1161C>T (p.Asp387=) c.1251C>T (p.Asp417=) c.*1166C>T (n.*1166C>T) c.*782C>T (n.*782C>T) c.1185C>T (p.Asp395=) c.1122C>T (p.Asp374=) c.1191C>T (p.Asp397=) | |
1 | g.6473016G>C | CA338133618 | PLEKHG5 | c.954C>G (p.Asp318Glu) c.1128C>G (p.Asp376Glu) c.1065C>G (p.Asp355Glu) n.1430C>G c.1161C>G (p.Asp387Glu) c.1251C>G (p.Asp417Glu) c.*1166C>G (n.*1166C>G) c.*782C>G (n.*782C>G) c.1185C>G (p.Asp395Glu) c.1122C>G (p.Asp374Glu) c.1191C>G (p.Asp397Glu) | |
1 | g.6473016G>T | CA338133619 | PLEKHG5 | c.954C>A (p.Asp318Glu) c.1128C>A (p.Asp376Glu) c.1065C>A (p.Asp355Glu) n.1430C>A c.1161C>A (p.Asp387Glu) c.1251C>A (p.Asp417Glu) c.*1166C>A (n.*1166C>A) c.*782C>A (n.*782C>A) c.1185C>A (p.Asp395Glu) c.1122C>A (p.Asp374Glu) c.1191C>A (p.Asp397Glu) | |
1 | g.6473017T>A | CA338133624 | PLEKHG5 | c.953A>T (p.Asp318Val) c.1127A>T (p.Asp376Val) c.1064A>T (p.Asp355Val) n.1429A>T c.1160A>T (p.Asp387Val) c.1250A>T (p.Asp417Val) c.*1165A>T (n.*1165A>T) c.*781A>T (n.*781A>T) c.1184A>T (p.Asp395Val) c.1121A>T (p.Asp374Val) c.1190A>T (p.Asp397Val) | |
1 | g.6473017T>C | CA338133620 | PLEKHG5 | c.953A>G (p.Asp318Gly) c.1127A>G (p.Asp376Gly) c.1064A>G (p.Asp355Gly) n.1429A>G c.1160A>G (p.Asp387Gly) c.1250A>G (p.Asp417Gly) c.*1165A>G (n.*1165A>G) c.*781A>G (n.*781A>G) c.1184A>G (p.Asp395Gly) c.1121A>G (p.Asp374Gly) c.1190A>G (p.Asp397Gly) | |
1 | g.6473017T>G | CA338133622 | PLEKHG5 | c.953A>C (p.Asp318Ala) c.1127A>C (p.Asp376Ala) c.1064A>C (p.Asp355Ala) n.1429A>C c.1160A>C (p.Asp387Ala) c.1250A>C (p.Asp417Ala) c.*1165A>C (n.*1165A>C) c.*781A>C (n.*781A>C) c.1184A>C (p.Asp395Ala) c.1121A>C (p.Asp374Ala) c.1190A>C (p.Asp397Ala) | |
1 | g.6473018C>A | CA338133637 | PLEKHG5 | c.952G>T (p.Asp318Tyr) c.1126G>T (p.Asp376Tyr) c.1063G>T (p.Asp355Tyr) n.1428G>T c.1159G>T (p.Asp387Tyr) c.1249G>T (p.Asp417Tyr) c.*1164G>T (n.*1164G>T) c.*780G>T (n.*780G>T) c.1183G>T (p.Asp395Tyr) c.1120G>T (p.Asp374Tyr) c.1189G>T (p.Asp397Tyr) | |
1 | g.6473018C>G | CA338133650 | PLEKHG5 | c.952G>C (p.Asp318His) c.1126G>C (p.Asp376His) c.1063G>C (p.Asp355His) n.1428G>C c.1159G>C (p.Asp387His) c.1249G>C (p.Asp417His) c.*1164G>C (n.*1164G>C) c.*780G>C (n.*780G>C) c.1183G>C (p.Asp395His) c.1120G>C (p.Asp374His) c.1189G>C (p.Asp397His) | |
1 | g.6473018C>T | CA338133651 | PLEKHG5 | c.952G>A (p.Asp318Asn) c.1126G>A (p.Asp376Asn) c.1063G>A (p.Asp355Asn) n.1428G>A c.1159G>A (p.Asp387Asn) c.1249G>A (p.Asp417Asn) c.*1164G>A (n.*1164G>A) c.*780G>A (n.*780G>A) c.1183G>A (p.Asp395Asn) c.1120G>A (p.Asp374Asn) c.1189G>A (p.Asp397Asn) | |
1 | g.6473019C>A | CA338133652 | PLEKHG5 | c.951G>T (p.Glu317Asp) c.1125G>T (p.Glu375Asp) c.1062G>T (p.Glu354Asp) n.1427G>T c.1158G>T (p.Glu386Asp) c.1248G>T (p.Glu416Asp) c.*1163G>T (n.*1163G>T) c.*779G>T (n.*779G>T) c.1182G>T (p.Glu394Asp) c.1119G>T (p.Glu373Asp) c.1188G>T (p.Glu396Asp) | |
1 | g.6473019C= | CA1151502725 | PLEKHG5 | c.951G= (p.Glu317=) c.1125G= (p.Glu375=) c.1062G= (p.Glu354=) n.1427G= c.1158G= (p.Glu386=) c.1248G= (p.Glu416=) c.*1163G= (n.*1163G=) c.*779G= (n.*779G=) c.1182G= (p.Glu394=) c.1119G= (p.Glu373=) c.1188G= (p.Glu396=) | |
1 | g.6473019C>G | CA561702 | PLEKHG5 | c.951G>C (p.Glu317Asp) c.1125G>C (p.Glu375Asp) c.1062G>C (p.Glu354Asp) n.1427G>C c.1158G>C (p.Glu386Asp) c.1248G>C (p.Glu416Asp) c.*1163G>C (n.*1163G>C) c.*779G>C (n.*779G>C) c.1182G>C (p.Glu394Asp) c.1119G>C (p.Glu373Asp) c.1188G>C (p.Glu396Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6473019C>T | CA415833375 | PLEKHG5 | c.951G>A (p.Glu317=) c.1125G>A (p.Glu375=) c.1062G>A (p.Glu354=) n.1427G>A c.1158G>A (p.Glu386=) c.1248G>A (p.Glu416=) c.*1163G>A (n.*1163G>A) c.*779G>A (n.*779G>A) c.1182G>A (p.Glu394=) c.1119G>A (p.Glu373=) c.1188G>A (p.Glu396=) | |
1 | g.6473020T>A | CA338133656 | PLEKHG5 | c.950A>T (p.Glu317Val) c.1124A>T (p.Glu375Val) c.1061A>T (p.Glu354Val) n.1426A>T c.1157A>T (p.Glu386Val) c.1247A>T (p.Glu416Val) c.*1162A>T (n.*1162A>T) c.*778A>T (n.*778A>T) c.1181A>T (p.Glu394Val) c.1118A>T (p.Glu373Val) c.1187A>T (p.Glu396Val) | dbSNP |
1 | g.6473020T>C | CA338133662 | PLEKHG5 | c.950A>G (p.Glu317Gly) c.1124A>G (p.Glu375Gly) c.1061A>G (p.Glu354Gly) n.1426A>G c.1157A>G (p.Glu386Gly) c.1247A>G (p.Glu416Gly) c.*1162A>G (n.*1162A>G) c.*778A>G (n.*778A>G) c.1181A>G (p.Glu394Gly) c.1118A>G (p.Glu373Gly) c.1187A>G (p.Glu396Gly) | |
1 | g.6473020T>G | CA338133667 | PLEKHG5 | c.950A>C (p.Glu317Ala) c.1124A>C (p.Glu375Ala) c.1061A>C (p.Glu354Ala) n.1426A>C c.1157A>C (p.Glu386Ala) c.1247A>C (p.Glu416Ala) c.*1162A>C (n.*1162A>C) c.*778A>C (n.*778A>C) c.1181A>C (p.Glu394Ala) c.1118A>C (p.Glu373Ala) c.1187A>C (p.Glu396Ala) | |
1 | g.6473020T= | CA1151502735 | PLEKHG5 | c.950A= (p.Glu317=) c.1124A= (p.Glu375=) c.1061A= (p.Glu354=) n.1426A= c.1157A= (p.Glu386=) c.1247A= (p.Glu416=) c.*1162A= (n.*1162A=) c.*778A= (n.*778A=) c.1181A= (p.Glu394=) c.1118A= (p.Glu373=) c.1187A= (p.Glu396=) | |
1 | g.6473021C>A | CA338133683 | PLEKHG5 | c.949G>T (p.Glu317Ter) c.1123G>T (p.Glu375Ter) c.1060G>T (p.Glu354Ter) n.1425G>T c.1156G>T (p.Glu386Ter) c.1246G>T (p.Glu416Ter) c.*1161G>T (n.*1161G>T) c.*777G>T (n.*777G>T) c.1180G>T (p.Glu394Ter) c.1117G>T (p.Glu373Ter) c.1186G>T (p.Glu396Ter) | |
1 | g.6473021C= | CA1151502738 | PLEKHG5 | c.949G= (p.Glu317=) c.1123G= (p.Glu375=) c.1060G= (p.Glu354=) n.1425G= c.1156G= (p.Glu386=) c.1246G= (p.Glu416=) c.*1161G= (n.*1161G=) c.*777G= (n.*777G=) c.1180G= (p.Glu394=) c.1117G= (p.Glu373=) c.1186G= (p.Glu396=) | |
1 | g.6473021C>G | CA338133691 | PLEKHG5 | c.949G>C (p.Glu317Gln) c.1123G>C (p.Glu375Gln) c.1060G>C (p.Glu354Gln) n.1425G>C c.1156G>C (p.Glu386Gln) c.1246G>C (p.Glu416Gln) c.*1161G>C (n.*1161G>C) c.*777G>C (n.*777G>C) c.1180G>C (p.Glu394Gln) c.1117G>C (p.Glu373Gln) c.1186G>C (p.Glu396Gln) | |
1 | g.6473021C>T | CA338133696 | PLEKHG5 | c.949G>A (p.Glu317Lys) c.1123G>A (p.Glu375Lys) c.1060G>A (p.Glu354Lys) n.1425G>A c.1156G>A (p.Glu386Lys) c.1246G>A (p.Glu416Lys) c.*1161G>A (n.*1161G>A) c.*777G>A (n.*777G>A) c.1180G>A (p.Glu394Lys) c.1117G>A (p.Glu373Lys) c.1186G>A (p.Glu396Lys) | dbSNP gnomAD v4 |
1 | g.6473022C>A | CA415833384 | PLEKHG5 | c.948G>T (p.Leu316=) c.1122G>T (p.Leu374=) c.1059G>T (p.Leu353=) n.1424G>T c.1155G>T (p.Leu385=) c.1245G>T (p.Leu415=) c.*1160G>T (n.*1160G>T) c.*776G>T (n.*776G>T) c.1179G>T (p.Leu393=) c.1116G>T (p.Leu372=) c.1185G>T (p.Leu395=) | gnomAD v4 |
1 | g.6473022C>G | CA415833380 | PLEKHG5 | c.948G>C (p.Leu316=) c.1122G>C (p.Leu374=) c.1059G>C (p.Leu353=) n.1424G>C c.1155G>C (p.Leu385=) c.1245G>C (p.Leu415=) c.*1160G>C (n.*1160G>C) c.*776G>C (n.*776G>C) c.1179G>C (p.Leu393=) c.1116G>C (p.Leu372=) c.1185G>C (p.Leu395=) | |
1 | g.6473022C>T | CA415833382 | PLEKHG5 | c.948G>A (p.Leu316=) c.1122G>A (p.Leu374=) c.1059G>A (p.Leu353=) n.1424G>A c.1155G>A (p.Leu385=) c.1245G>A (p.Leu415=) c.*1160G>A (n.*1160G>A) c.*776G>A (n.*776G>A) c.1179G>A (p.Leu393=) c.1116G>A (p.Leu372=) c.1185G>A (p.Leu395=) | gnomAD v4 |
1 | g.6473023A>C | CA338133706 | PLEKHG5 | c.947T>G (p.Leu316Arg) c.1121T>G (p.Leu374Arg) c.1058T>G (p.Leu353Arg) n.1423T>G c.1154T>G (p.Leu385Arg) c.1244T>G (p.Leu415Arg) c.*1159T>G (n.*1159T>G) c.*775T>G (n.*775T>G) c.1178T>G (p.Leu393Arg) c.1115T>G (p.Leu372Arg) c.1184T>G (p.Leu395Arg) | |
1 | g.6473023A>G | CA338133704 | PLEKHG5 | c.947T>C (p.Leu316Pro) c.1121T>C (p.Leu374Pro) c.1058T>C (p.Leu353Pro) n.1423T>C c.1154T>C (p.Leu385Pro) c.1244T>C (p.Leu415Pro) c.*1159T>C (n.*1159T>C) c.*775T>C (n.*775T>C) c.1178T>C (p.Leu393Pro) c.1115T>C (p.Leu372Pro) c.1184T>C (p.Leu395Pro) | |
1 | g.6473023A>T | CA338133702 | PLEKHG5 | c.947T>A (p.Leu316Gln) c.1121T>A (p.Leu374Gln) c.1058T>A (p.Leu353Gln) n.1423T>A c.1154T>A (p.Leu385Gln) c.1244T>A (p.Leu415Gln) c.*1159T>A (n.*1159T>A) c.*775T>A (n.*775T>A) c.1178T>A (p.Leu393Gln) c.1115T>A (p.Leu372Gln) c.1184T>A (p.Leu395Gln) | |
1 | g.6473024G>A | CA415833390 | PLEKHG5 | c.946C>T (p.Leu316=) c.1120C>T (p.Leu374=) c.1057C>T (p.Leu353=) n.1422C>T c.1153C>T (p.Leu385=) c.1243C>T (p.Leu415=) c.*1158C>T (n.*1158C>T) c.*774C>T (n.*774C>T) c.1177C>T (p.Leu393=) c.1114C>T (p.Leu372=) c.1183C>T (p.Leu395=) | |
1 | g.6473024G>C | CA338133709 | PLEKHG5 | c.946C>G (p.Leu316Val) c.1120C>G (p.Leu374Val) c.1057C>G (p.Leu353Val) n.1422C>G c.1153C>G (p.Leu385Val) c.1243C>G (p.Leu415Val) c.*1158C>G (n.*1158C>G) c.*774C>G (n.*774C>G) c.1177C>G (p.Leu393Val) c.1114C>G (p.Leu372Val) c.1183C>G (p.Leu395Val) | |
1 | g.6473024G>T | CA338133713 | PLEKHG5 | c.946C>A (p.Leu316Met) c.1120C>A (p.Leu374Met) c.1057C>A (p.Leu353Met) n.1422C>A c.1153C>A (p.Leu385Met) c.1243C>A (p.Leu415Met) c.*1158C>A (n.*1158C>A) c.*774C>A (n.*774C>A) c.1177C>A (p.Leu393Met) c.1114C>A (p.Leu372Met) c.1183C>A (p.Leu395Met) | gnomAD v4 |
1 | g.6473025C>A | CA338133714 | PLEKHG5 | c.945G>T (p.Arg315Ser) c.1119G>T (p.Arg373Ser) c.1056G>T (p.Arg352Ser) n.1421G>T c.1152G>T (p.Arg384Ser) c.1242G>T (p.Arg414Ser) c.*1157G>T (n.*1157G>T) c.*773G>T (n.*773G>T) c.1176G>T (p.Arg392Ser) c.1113G>T (p.Arg371Ser) c.1182G>T (p.Arg394Ser) | |
1 | g.6473025C>G | CA338133715 | PLEKHG5 | c.945G>C (p.Arg315Ser) c.1119G>C (p.Arg373Ser) c.1056G>C (p.Arg352Ser) n.1421G>C c.1152G>C (p.Arg384Ser) c.1242G>C (p.Arg414Ser) c.*1157G>C (n.*1157G>C) c.*773G>C (n.*773G>C) c.1176G>C (p.Arg392Ser) c.1113G>C (p.Arg371Ser) c.1182G>C (p.Arg394Ser) | |
1 | g.6473025C>T | CA415833393 | PLEKHG5 | c.945G>A (p.Arg315=) c.1119G>A (p.Arg373=) c.1056G>A (p.Arg352=) n.1421G>A c.1152G>A (p.Arg384=) c.1242G>A (p.Arg414=) c.*1157G>A (n.*1157G>A) c.*773G>A (n.*773G>A) c.1176G>A (p.Arg392=) c.1113G>A (p.Arg371=) c.1182G>A (p.Arg394=) | |
1 | g.6473026C>A | CA338133716 | PLEKHG5 | c.944G>T (p.Arg315Met) c.1118G>T (p.Arg373Met) c.1055G>T (p.Arg352Met) n.1420G>T c.1151G>T (p.Arg384Met) c.1241G>T (p.Arg414Met) c.*1156G>T (n.*1156G>T) c.*772G>T (n.*772G>T) c.1175G>T (p.Arg392Met) c.1112G>T (p.Arg371Met) c.1181G>T (p.Arg394Met) | |
1 | g.6473026C= | CA1147768396 | PLEKHG5 | c.944G= (p.Arg315=) c.1118G= (p.Arg373=) c.1055G= (p.Arg352=) n.1420G= c.1151G= (p.Arg384=) c.1241G= (p.Arg414=) c.*1156G= (n.*1156G=) c.*772G= (n.*772G=) c.1175G= (p.Arg392=) c.1112G= (p.Arg371=) c.1181G= (p.Arg394=) | |
1 | g.6473026C>G | CA338133717 | PLEKHG5 | c.944G>C (p.Arg315Thr) c.1118G>C (p.Arg373Thr) c.1055G>C (p.Arg352Thr) n.1420G>C c.1151G>C (p.Arg384Thr) c.1241G>C (p.Arg414Thr) c.*1156G>C (n.*1156G>C) c.*772G>C (n.*772G>C) c.1175G>C (p.Arg392Thr) c.1112G>C (p.Arg371Thr) c.1181G>C (p.Arg394Thr) | |
1 | g.6473026C>T | CA561703 | PLEKHG5 | c.944G>A (p.Arg315Lys) c.1118G>A (p.Arg373Lys) c.1055G>A (p.Arg352Lys) n.1420G>A c.1151G>A (p.Arg384Lys) c.1241G>A (p.Arg414Lys) c.*1156G>A (n.*1156G>A) c.*772G>A (n.*772G>A) c.1175G>A (p.Arg392Lys) c.1112G>A (p.Arg371Lys) c.1181G>A (p.Arg394Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6473027T>A | CA338133718 | PLEKHG5 | c.943A>T (p.Arg315Trp) c.1117A>T (p.Arg373Trp) c.1054A>T (p.Arg352Trp) n.1419A>T c.1150A>T (p.Arg384Trp) c.1240A>T (p.Arg414Trp) c.*1155A>T (n.*1155A>T) c.*771A>T (n.*771A>T) c.1174A>T (p.Arg392Trp) c.1111A>T (p.Arg371Trp) c.1180A>T (p.Arg394Trp) | |
1 | g.6473027T>C | CA338133719 | PLEKHG5 | c.943A>G (p.Arg315Gly) c.1117A>G (p.Arg373Gly) c.1054A>G (p.Arg352Gly) n.1419A>G c.1150A>G (p.Arg384Gly) c.1240A>G (p.Arg414Gly) c.*1155A>G (n.*1155A>G) c.*771A>G (n.*771A>G) c.1174A>G (p.Arg392Gly) c.1111A>G (p.Arg371Gly) c.1180A>G (p.Arg394Gly) | |
1 | g.6473027T>G | CA415833398 | PLEKHG5 | c.943A>C (p.Arg315=) c.1117A>C (p.Arg373=) c.1054A>C (p.Arg352=) n.1419A>C c.1150A>C (p.Arg384=) c.1240A>C (p.Arg414=) c.*1155A>C (n.*1155A>C) c.*771A>C (n.*771A>C) c.1174A>C (p.Arg392=) c.1111A>C (p.Arg371=) c.1180A>C (p.Arg394=) | |
1 | g.6473028C>A | CA415833401 | PLEKHG5 | c.942G>T (p.Leu314=) c.1116G>T (p.Leu372=) c.1053G>T (p.Leu351=) n.1418G>T c.1149G>T (p.Leu383=) c.1239G>T (p.Leu413=) c.*1154G>T (n.*1154G>T) c.*770G>T (n.*770G>T) c.1173G>T (p.Leu391=) c.1110G>T (p.Leu370=) c.1179G>T (p.Leu393=) | |
1 | g.6473028C= | CA1145509135 | PLEKHG5 | c.942G= (p.Leu314=) c.1116G= (p.Leu372=) c.1053G= (p.Leu351=) n.1418G= c.1149G= (p.Leu383=) c.1239G= (p.Leu413=) c.*1154G= (n.*1154G=) c.*770G= (n.*770G=) c.1173G= (p.Leu391=) c.1110G= (p.Leu370=) c.1179G= (p.Leu393=) | |
1 | g.6473028C>G | CA415833403 | PLEKHG5 | c.942G>C (p.Leu314=) c.1116G>C (p.Leu372=) c.1053G>C (p.Leu351=) n.1418G>C c.1149G>C (p.Leu383=) c.1239G>C (p.Leu413=) c.*1154G>C (n.*1154G>C) c.*770G>C (n.*770G>C) c.1173G>C (p.Leu391=) c.1110G>C (p.Leu370=) c.1179G>C (p.Leu393=) | gnomAD v4 |
1 | g.6473028C>T | CA561704 | PLEKHG5 | c.942G>A (p.Leu314=) c.1116G>A (p.Leu372=) c.1053G>A (p.Leu351=) n.1418G>A c.1149G>A (p.Leu383=) c.1239G>A (p.Leu413=) c.*1154G>A (n.*1154G>A) c.*770G>A (n.*770G>A) c.1173G>A (p.Leu391=) c.1110G>A (p.Leu370=) c.1179G>A (p.Leu393=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6473029A= | CA1151502745 | PLEKHG5 | c.941T= (p.Leu314=) c.1115T= (p.Leu372=) c.1052T= (p.Leu351=) n.1417T= c.1148T= (p.Leu383=) c.1238T= (p.Leu413=) c.*1153T= (n.*1153T=) c.*769T= (n.*769T=) c.1172T= (p.Leu391=) c.1109T= (p.Leu370=) c.1178T= (p.Leu393=) | |
1 | g.6473029A>C | CA338133720 | PLEKHG5 | c.941T>G (p.Leu314Arg) c.1115T>G (p.Leu372Arg) c.1052T>G (p.Leu351Arg) n.1417T>G c.1148T>G (p.Leu383Arg) c.1238T>G (p.Leu413Arg) c.*1153T>G (n.*1153T>G) c.*769T>G (n.*769T>G) c.1172T>G (p.Leu391Arg) c.1109T>G (p.Leu370Arg) c.1178T>G (p.Leu393Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6473029A>G | CA338133721 | PLEKHG5 | c.941T>C (p.Leu314Pro) c.1115T>C (p.Leu372Pro) c.1052T>C (p.Leu351Pro) n.1417T>C c.1148T>C (p.Leu383Pro) c.1238T>C (p.Leu413Pro) c.*1153T>C (n.*1153T>C) c.*769T>C (n.*769T>C) c.1172T>C (p.Leu391Pro) c.1109T>C (p.Leu370Pro) c.1178T>C (p.Leu393Pro) | |
1 | g.6473029A>T | CA338133723 | PLEKHG5 | c.941T>A (p.Leu314Gln) c.1115T>A (p.Leu372Gln) c.1052T>A (p.Leu351Gln) n.1417T>A c.1148T>A (p.Leu383Gln) c.1238T>A (p.Leu413Gln) c.*1153T>A (n.*1153T>A) c.*769T>A (n.*769T>A) c.1172T>A (p.Leu391Gln) c.1109T>A (p.Leu370Gln) c.1178T>A (p.Leu393Gln) | |
1 | g.6473030G>A | CA415833409 | PLEKHG5 | c.940C>T (p.Leu314=) c.1114C>T (p.Leu372=) c.1051C>T (p.Leu351=) n.1416C>T c.1147C>T (p.Leu383=) c.1237C>T (p.Leu413=) c.*1152C>T (n.*1152C>T) c.*768C>T (n.*768C>T) c.1171C>T (p.Leu391=) c.1108C>T (p.Leu370=) c.1177C>T (p.Leu393=) | ClinVar gnomAD v4 |
1 | g.6473030G>C | CA338133727 | PLEKHG5 | c.940C>G (p.Leu314Val) c.1114C>G (p.Leu372Val) c.1051C>G (p.Leu351Val) n.1416C>G c.1147C>G (p.Leu383Val) c.1237C>G (p.Leu413Val) c.*1152C>G (n.*1152C>G) c.*768C>G (n.*768C>G) c.1171C>G (p.Leu391Val) c.1108C>G (p.Leu370Val) c.1177C>G (p.Leu393Val) | |
1 | g.6473030G>T | CA338133746 | PLEKHG5 | c.940C>A (p.Leu314Met) c.1114C>A (p.Leu372Met) c.1051C>A (p.Leu351Met) n.1416C>A c.1147C>A (p.Leu383Met) c.1237C>A (p.Leu413Met) c.*1152C>A (n.*1152C>A) c.*768C>A (n.*768C>A) c.1171C>A (p.Leu391Met) c.1108C>A (p.Leu370Met) c.1177C>A (p.Leu393Met) | |
1 | g.6473031G>A | CA415833412 | PLEKHG5 | c.939C>T (p.Cys313=) c.1113C>T (p.Cys371=) c.1050C>T (p.Cys350=) n.1415C>T c.1146C>T (p.Cys382=) c.1236C>T (p.Cys412=) c.*1151C>T (n.*1151C>T) c.*767C>T (n.*767C>T) c.1170C>T (p.Cys390=) c.1107C>T (p.Cys369=) c.1176C>T (p.Cys392=) | COSMIC COSMIC COSMIC |
1 | g.6473031G>C | CA338133750 | PLEKHG5 | c.939C>G (p.Cys313Trp) c.1113C>G (p.Cys371Trp) c.1050C>G (p.Cys350Trp) n.1415C>G c.1146C>G (p.Cys382Trp) c.1236C>G (p.Cys412Trp) c.*1151C>G (n.*1151C>G) c.*767C>G (n.*767C>G) c.1170C>G (p.Cys390Trp) c.1107C>G (p.Cys369Trp) c.1176C>G (p.Cys392Trp) | |
1 | g.6473031G>T | CA338133756 | PLEKHG5 | c.939C>A (p.Cys313Ter) c.1113C>A (p.Cys371Ter) c.1050C>A (p.Cys350Ter) n.1415C>A c.1146C>A (p.Cys382Ter) c.1236C>A (p.Cys412Ter) c.*1151C>A (n.*1151C>A) c.*767C>A (n.*767C>A) c.1170C>A (p.Cys390Ter) c.1107C>A (p.Cys369Ter) c.1176C>A (p.Cys392Ter) | |
1 | g.6473032C>A | CA338133761 | PLEKHG5 | c.938G>T (p.Cys313Phe) c.1112G>T (p.Cys371Phe) c.1049G>T (p.Cys350Phe) n.1414G>T c.1145G>T (p.Cys382Phe) c.1235G>T (p.Cys412Phe) c.*1150G>T (n.*1150G>T) c.*766G>T (n.*766G>T) c.1169G>T (p.Cys390Phe) c.1106G>T (p.Cys369Phe) c.1175G>T (p.Cys392Phe) | |
1 | g.6473032C= | CA1151502754 | PLEKHG5 | c.938G= (p.Cys313=) c.1112G= (p.Cys371=) c.1049G= (p.Cys350=) n.1414G= c.1145G= (p.Cys382=) c.1235G= (p.Cys412=) c.*1150G= (n.*1150G=) c.*766G= (n.*766G=) c.1169G= (p.Cys390=) c.1106G= (p.Cys369=) c.1175G= (p.Cys392=) | |
1 | g.6473032C>G | CA338133762 | PLEKHG5 | c.938G>C (p.Cys313Ser) c.1112G>C (p.Cys371Ser) c.1049G>C (p.Cys350Ser) n.1414G>C c.1145G>C (p.Cys382Ser) c.1235G>C (p.Cys412Ser) c.*1150G>C (n.*1150G>C) c.*766G>C (n.*766G>C) c.1169G>C (p.Cys390Ser) c.1106G>C (p.Cys369Ser) c.1175G>C (p.Cys392Ser) | |
1 | g.6473032C>T | CA338133764 | PLEKHG5 | c.938G>A (p.Cys313Tyr) c.1112G>A (p.Cys371Tyr) c.1049G>A (p.Cys350Tyr) n.1414G>A c.1145G>A (p.Cys382Tyr) c.1235G>A (p.Cys412Tyr) c.*1150G>A (n.*1150G>A) c.*766G>A (n.*766G>A) c.1169G>A (p.Cys390Tyr) c.1106G>A (p.Cys369Tyr) c.1175G>A (p.Cys392Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.6473033A>C | CA338133767 | PLEKHG5 | c.937T>G (p.Cys313Gly) c.1111T>G (p.Cys371Gly) c.1048T>G (p.Cys350Gly) n.1413T>G c.1144T>G (p.Cys382Gly) c.1234T>G (p.Cys412Gly) c.*1149T>G (n.*1149T>G) c.*765T>G (n.*765T>G) c.1168T>G (p.Cys390Gly) c.1105T>G (p.Cys369Gly) c.1174T>G (p.Cys392Gly) | |
1 | g.6473033A>G | CA338133773 | PLEKHG5 | c.937T>C (p.Cys313Arg) c.1111T>C (p.Cys371Arg) c.1048T>C (p.Cys350Arg) n.1413T>C c.1144T>C (p.Cys382Arg) c.1234T>C (p.Cys412Arg) c.*1149T>C (n.*1149T>C) c.*765T>C (n.*765T>C) c.1168T>C (p.Cys390Arg) c.1105T>C (p.Cys369Arg) c.1174T>C (p.Cys392Arg) | |
1 | g.6473033A>T | CA338133786 | PLEKHG5 | c.937T>A (p.Cys313Ser) c.1111T>A (p.Cys371Ser) c.1048T>A (p.Cys350Ser) n.1413T>A c.1144T>A (p.Cys382Ser) c.1234T>A (p.Cys412Ser) c.*1149T>A (n.*1149T>A) c.*765T>A (n.*765T>A) c.1168T>A (p.Cys390Ser) c.1105T>A (p.Cys369Ser) c.1174T>A (p.Cys392Ser) | |
1 | g.6473034G>A | CA415833422 | PLEKHG5 | c.936C>T (p.Ala312=) c.1110C>T (p.Ala370=) c.1047C>T (p.Ala349=) n.1412C>T c.1143C>T (p.Ala381=) c.1233C>T (p.Ala411=) c.*1148C>T (n.*1148C>T) c.*764C>T (n.*764C>T) c.1167C>T (p.Ala389=) c.1104C>T (p.Ala368=) c.1173C>T (p.Ala391=) | dbSNP |
1 | g.6473034G>C | CA415833424 | PLEKHG5 | c.936C>G (p.Ala312=) c.1110C>G (p.Ala370=) c.1047C>G (p.Ala349=) n.1412C>G c.1143C>G (p.Ala381=) c.1233C>G (p.Ala411=) c.*1148C>G (n.*1148C>G) c.*764C>G (n.*764C>G) c.1167C>G (p.Ala389=) c.1104C>G (p.Ala368=) c.1173C>G (p.Ala391=) | |
1 | g.6473034G= | CA1151502758 | PLEKHG5 | c.936C= (p.Ala312=) c.1110C= (p.Ala370=) c.1047C= (p.Ala349=) n.1412C= c.1143C= (p.Ala381=) c.1233C= (p.Ala411=) c.*1148C= (n.*1148C=) c.*764C= (n.*764C=) c.1167C= (p.Ala389=) c.1104C= (p.Ala368=) c.1173C= (p.Ala391=) | |
1 | g.6473034G>T | CA415833425 | PLEKHG5 | c.936C>A (p.Ala312=) c.1110C>A (p.Ala370=) c.1047C>A (p.Ala349=) n.1412C>A c.1143C>A (p.Ala381=) c.1233C>A (p.Ala411=) c.*1148C>A (n.*1148C>A) c.*764C>A (n.*764C>A) c.1167C>A (p.Ala389=) c.1104C>A (p.Ala368=) c.1173C>A (p.Ala391=) | |
1 | g.6473035G>A | CA338133792 | PLEKHG5 | c.935C>T (p.Ala312Val) c.1109C>T (p.Ala370Val) c.1046C>T (p.Ala349Val) n.1411C>T c.1142C>T (p.Ala381Val) c.1232C>T (p.Ala411Val) c.*1147C>T (n.*1147C>T) c.*763C>T (n.*763C>T) c.1166C>T (p.Ala389Val) c.1103C>T (p.Ala368Val) c.1172C>T (p.Ala391Val) | |
1 | g.6473035G>C | CA338133794 | PLEKHG5 | c.935C>G (p.Ala312Gly) c.1109C>G (p.Ala370Gly) c.1046C>G (p.Ala349Gly) n.1411C>G c.1142C>G (p.Ala381Gly) c.1232C>G (p.Ala411Gly) c.*1147C>G (n.*1147C>G) c.*763C>G (n.*763C>G) c.1166C>G (p.Ala389Gly) c.1103C>G (p.Ala368Gly) c.1172C>G (p.Ala391Gly) | gnomAD v4 |
1 | g.6473035G>T | CA338133795 | PLEKHG5 | c.935C>A (p.Ala312Asp) c.1109C>A (p.Ala370Asp) c.1046C>A (p.Ala349Asp) n.1411C>A c.1142C>A (p.Ala381Asp) c.1232C>A (p.Ala411Asp) c.*1147C>A (n.*1147C>A) c.*763C>A (n.*763C>A) c.1166C>A (p.Ala389Asp) c.1103C>A (p.Ala368Asp) c.1172C>A (p.Ala391Asp) | ClinVar |
1 | g.6473036C>A | CA338133796 | PLEKHG5 | c.934G>T (p.Ala312Ser) c.1108G>T (p.Ala370Ser) c.1045G>T (p.Ala349Ser) n.1410G>T c.1141G>T (p.Ala381Ser) c.1231G>T (p.Ala411Ser) c.*1146G>T (n.*1146G>T) c.*762G>T (n.*762G>T) c.1165G>T (p.Ala389Ser) c.1102G>T (p.Ala368Ser) c.1171G>T (p.Ala391Ser) | gnomAD v4 |
1 | g.6473036C>G | CA338133800 | PLEKHG5 | c.934G>C (p.Ala312Pro) c.1108G>C (p.Ala370Pro) c.1045G>C (p.Ala349Pro) n.1410G>C c.1141G>C (p.Ala381Pro) c.1231G>C (p.Ala411Pro) c.*1146G>C (n.*1146G>C) c.*762G>C (n.*762G>C) c.1165G>C (p.Ala389Pro) c.1102G>C (p.Ala368Pro) c.1171G>C (p.Ala391Pro) | |
1 | g.6473036C>T | CA338133803 | PLEKHG5 | c.934G>A (p.Ala312Thr) c.1108G>A (p.Ala370Thr) c.1045G>A (p.Ala349Thr) n.1410G>A c.1141G>A (p.Ala381Thr) c.1231G>A (p.Ala411Thr) c.*1146G>A (n.*1146G>A) c.*762G>A (n.*762G>A) c.1165G>A (p.Ala389Thr) c.1102G>A (p.Ala368Thr) c.1171G>A (p.Ala391Thr) | |
1 | g.6473037A= | CA1151502773 | PLEKHG5 | c.933T= (p.Asn311=) c.1107T= (p.Asn369=) c.1044T= (p.Asn348=) n.1409T= c.1140T= (p.Asn380=) c.1230T= (p.Asn410=) c.*1145T= (n.*1145T=) c.*761T= (n.*761T=) c.1164T= (p.Asn388=) c.1101T= (p.Asn367=) c.1170T= (p.Asn390=) | |
1 | g.6473037A>C | CA561705 | PLEKHG5 | c.933T>G (p.Asn311Lys) c.1107T>G (p.Asn369Lys) c.1044T>G (p.Asn348Lys) n.1409T>G c.1140T>G (p.Asn380Lys) c.1230T>G (p.Asn410Lys) c.*1145T>G (n.*1145T>G) c.*761T>G (n.*761T>G) c.1164T>G (p.Asn388Lys) c.1101T>G (p.Asn367Lys) c.1170T>G (p.Asn390Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6473037A>G | CA415833431 | PLEKHG5 | c.933T>C (p.Asn311=) c.1107T>C (p.Asn369=) c.1044T>C (p.Asn348=) n.1409T>C c.1140T>C (p.Asn380=) c.1230T>C (p.Asn410=) c.*1145T>C (n.*1145T>C) c.*761T>C (n.*761T>C) c.1164T>C (p.Asn388=) c.1101T>C (p.Asn367=) c.1170T>C (p.Asn390=) | |
1 | g.6473037A>T | CA338133818 | PLEKHG5 | c.933T>A (p.Asn311Lys) c.1107T>A (p.Asn369Lys) c.1044T>A (p.Asn348Lys) n.1409T>A c.1140T>A (p.Asn380Lys) c.1230T>A (p.Asn410Lys) c.*1145T>A (n.*1145T>A) c.*761T>A (n.*761T>A) c.1164T>A (p.Asn388Lys) c.1101T>A (p.Asn367Lys) c.1170T>A (p.Asn390Lys) | |
1 | g.6473037_6473038delinsAT | CA1151502765 | PLEKHG5 | c.932_933delinsAT (p.Asn311=) c.1106_1107delinsAT (p.Asn369=) c.1043_1044delinsAT (p.Asn348=) n.1408_1409delinsAT c.1139_1140delinsAT (p.Asn380=) c.1229_1230delinsAT (p.Asn410=) c.*1144_*1145delinsAT (n.*1144_*1145delinsAT) c.*760_*761delinsAT (n.*760_*761delinsAT) c.1163_1164delinsAT (p.Asn388=) c.1100_1101delinsAT (p.Asn367=) c.1169_1170delinsAT (p.Asn390=) | |
1 | g.6473037_6473049delinsATTGTCCTCATCC | CA1151502770 | PLEKHG5 | c.921_933delinsGGATGAGGACAAT (p.Glu307=) c.1095_1107delinsGGATGAGGACAAT (p.Glu365=) c.1032_1044delinsGGATGAGGACAAT (p.Glu344=) n.1397_1409delinsGGATGAGGACAAT c.1128_1140delinsGGATGAGGACAAT (p.Glu376=) c.1218_1230delinsGGATGAGGACAAT (p.Glu406=) c.*1133_*1145delinsGGATGAGGACAAT (n.*1133_*1145delinsGGATGAGGACAAT) c.*749_*761delinsGGATGAGGACAAT (n.*749_*761delinsGGATGAGGACAAT) c.1152_1164delinsGGATGAGGACAAT (p.Glu384=) c.1089_1101delinsGGATGAGGACAAT (p.Glu363=) c.1158_1170delinsGGATGAGGACAAT (p.Glu386=) | |
1 | g.6473038T>A | CA338133830 | PLEKHG5 | c.932A>T (p.Asn311Ile) c.1106A>T (p.Asn369Ile) c.1043A>T (p.Asn348Ile) n.1408A>T c.1139A>T (p.Asn380Ile) c.1229A>T (p.Asn410Ile) c.*1144A>T (n.*1144A>T) c.*760A>T (n.*760A>T) c.1163A>T (p.Asn388Ile) c.1100A>T (p.Asn367Ile) c.1169A>T (p.Asn390Ile) | |
1 | g.6473038T>C | CA338133834 | PLEKHG5 | c.932A>G (p.Asn311Ser) c.1106A>G (p.Asn369Ser) c.1043A>G (p.Asn348Ser) n.1408A>G c.1139A>G (p.Asn380Ser) c.1229A>G (p.Asn410Ser) c.*1144A>G (n.*1144A>G) c.*760A>G (n.*760A>G) c.1163A>G (p.Asn388Ser) c.1100A>G (p.Asn367Ser) c.1169A>G (p.Asn390Ser) | gnomAD v4 |
1 | g.6473038T>G | CA338133839 | PLEKHG5 | c.932A>C (p.Asn311Thr) c.1106A>C (p.Asn369Thr) c.1043A>C (p.Asn348Thr) n.1408A>C c.1139A>C (p.Asn380Thr) c.1229A>C (p.Asn410Thr) c.*1144A>C (n.*1144A>C) c.*760A>C (n.*760A>C) c.1163A>C (p.Asn388Thr) c.1100A>C (p.Asn367Thr) c.1169A>C (p.Asn390Thr) | |
1 | g.6473039del | CA17241748 | PLEKHG5 | c.932del (p.Asn311MetfsTer4) c.1106del (p.Asn369MetfsTer4) c.1043del (p.Asn348MetfsTer4) n.1408del c.1139del (p.Asn380MetfsTer4) c.1229del (p.Asn410MetfsTer4) c.*1144del (n.*1144del) c.*760del (n.*760del) c.1163del (p.Asn388MetfsTer4) c.1100del (p.Asn367MetfsTer4) c.1169del (p.Asn390MetfsTer4) | dbSNP |
1 | g.6473039_6473050del | CA521018841 | PLEKHG5 | c.921_932del (p.Glu307_Asn311delinsAsp) c.1095_1106del (p.Glu365_Asn369delinsAsp) c.1032_1043del (p.Glu344_Asn348delinsAsp) n.1397_1408del c.1128_1139del (p.Glu376_Asn380delinsAsp) c.1218_1229del (p.Glu406_Asn410delinsAsp) c.*1133_*1144del (n.*1133_*1144del) c.*749_*760del (n.*749_*760del) c.1152_1163del (p.Glu384_Asn388delinsAsp) c.1089_1100del (p.Glu363_Asn367delinsAsp) c.1158_1169del (p.Glu386_Asn390delinsAsp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6473039T>A | CA338133840 | PLEKHG5 | c.931A>T (p.Asn311Tyr) c.1105A>T (p.Asn369Tyr) c.1042A>T (p.Asn348Tyr) n.1407A>T c.1138A>T (p.Asn380Tyr) c.1228A>T (p.Asn410Tyr) c.*1143A>T (n.*1143A>T) c.*759A>T (n.*759A>T) c.1162A>T (p.Asn388Tyr) c.1099A>T (p.Asn367Tyr) c.1168A>T (p.Asn390Tyr) | |
1 | g.6473039T>C | CA338133843 | PLEKHG5 | c.931A>G (p.Asn311Asp) c.1105A>G (p.Asn369Asp) c.1042A>G (p.Asn348Asp) n.1407A>G c.1138A>G (p.Asn380Asp) c.1228A>G (p.Asn410Asp) c.*1143A>G (n.*1143A>G) c.*759A>G (n.*759A>G) c.1162A>G (p.Asn388Asp) c.1099A>G (p.Asn367Asp) c.1168A>G (p.Asn390Asp) | |
1 | g.6473039T>G | CA561706 | PLEKHG5 | c.931A>C (p.Asn311His) c.1105A>C (p.Asn369His) c.1042A>C (p.Asn348His) n.1407A>C c.1138A>C (p.Asn380His) c.1228A>C (p.Asn410His) c.*1143A>C (n.*1143A>C) c.*759A>C (n.*759A>C) c.1162A>C (p.Asn388His) c.1099A>C (p.Asn367His) c.1168A>C (p.Asn390His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6473039T= | CA1142089773 | PLEKHG5 | c.931A= (p.Asn311=) c.1105A= (p.Asn369=) c.1042A= (p.Asn348=) n.1407A= c.1138A= (p.Asn380=) c.1228A= (p.Asn410=) c.*1143A= (n.*1143A=) c.*759A= (n.*759A=) c.1162A= (p.Asn388=) c.1099A= (p.Asn367=) c.1168A= (p.Asn390=) | |
1 | g.6473040G>A | CA415833441 | PLEKHG5 | c.930C>T (p.Asp310=) c.1104C>T (p.Asp368=) c.1041C>T (p.Asp347=) n.1406C>T c.1137C>T (p.Asp379=) c.1227C>T (p.Asp409=) c.*1142C>T (n.*1142C>T) c.*758C>T (n.*758C>T) c.1161C>T (p.Asp387=) c.1098C>T (p.Asp366=) c.1167C>T (p.Asp389=) | gnomAD v4 |
1 | g.6473040G>C | CA338133848 | PLEKHG5 | c.930C>G (p.Asp310Glu) c.1104C>G (p.Asp368Glu) c.1041C>G (p.Asp347Glu) n.1406C>G c.1137C>G (p.Asp379Glu) c.1227C>G (p.Asp409Glu) c.*1142C>G (n.*1142C>G) c.*758C>G (n.*758C>G) c.1161C>G (p.Asp387Glu) c.1098C>G (p.Asp366Glu) c.1167C>G (p.Asp389Glu) | |
1 | g.6473040G= | CA1151502787 | PLEKHG5 | c.930C= (p.Asp310=) c.1104C= (p.Asp368=) c.1041C= (p.Asp347=) n.1406C= c.1137C= (p.Asp379=) c.1227C= (p.Asp409=) c.*1142C= (n.*1142C=) c.*758C= (n.*758C=) c.1161C= (p.Asp387=) c.1098C= (p.Asp366=) c.1167C= (p.Asp389=) | |
1 | g.6473040G>T | CA17241775 | PLEKHG5 | c.930C>A (p.Asp310Glu) c.1104C>A (p.Asp368Glu) c.1041C>A (p.Asp347Glu) n.1406C>A c.1137C>A (p.Asp379Glu) c.1227C>A (p.Asp409Glu) c.*1142C>A (n.*1142C>A) c.*758C>A (n.*758C>A) c.1161C>A (p.Asp387Glu) c.1098C>A (p.Asp366Glu) c.1167C>A (p.Asp389Glu) | dbSNP gnomAD v4 |
1 | g.6473041T>A | CA338133860 | PLEKHG5 | c.929A>T (p.Asp310Val) c.1103A>T (p.Asp368Val) c.1040A>T (p.Asp347Val) n.1405A>T c.1136A>T (p.Asp379Val) c.1226A>T (p.Asp409Val) c.*1141A>T (n.*1141A>T) c.*757A>T (n.*757A>T) c.1160A>T (p.Asp387Val) c.1097A>T (p.Asp366Val) c.1166A>T (p.Asp389Val) | |
1 | g.6473041T>C | CA338133861 | PLEKHG5 | c.929A>G (p.Asp310Gly) c.1103A>G (p.Asp368Gly) c.1040A>G (p.Asp347Gly) n.1405A>G c.1136A>G (p.Asp379Gly) c.1226A>G (p.Asp409Gly) c.*1141A>G (n.*1141A>G) c.*757A>G (n.*757A>G) c.1160A>G (p.Asp387Gly) c.1097A>G (p.Asp366Gly) c.1166A>G (p.Asp389Gly) | |
1 | g.6473041T>G | CA338133862 | PLEKHG5 | c.929A>C (p.Asp310Ala) c.1103A>C (p.Asp368Ala) c.1040A>C (p.Asp347Ala) n.1405A>C c.1136A>C (p.Asp379Ala) c.1226A>C (p.Asp409Ala) c.*1141A>C (n.*1141A>C) c.*757A>C (n.*757A>C) c.1160A>C (p.Asp387Ala) c.1097A>C (p.Asp366Ala) c.1166A>C (p.Asp389Ala) | |
1 | g.6473042C>A | CA338133866 | PLEKHG5 | c.928G>T (p.Asp310Tyr) c.1102G>T (p.Asp368Tyr) c.1039G>T (p.Asp347Tyr) n.1404G>T c.1135G>T (p.Asp379Tyr) c.1225G>T (p.Asp409Tyr) c.*1140G>T (n.*1140G>T) c.*756G>T (n.*756G>T) c.1159G>T (p.Asp387Tyr) c.1096G>T (p.Asp366Tyr) c.1165G>T (p.Asp389Tyr) | |
1 | g.6473042C= | CA1140723610 | PLEKHG5 | c.928G= (p.Asp310=) c.1102G= (p.Asp368=) c.1039G= (p.Asp347=) n.1404G= c.1135G= (p.Asp379=) c.1225G= (p.Asp409=) c.*1140G= (n.*1140G=) c.*756G= (n.*756G=) c.1159G= (p.Asp387=) c.1096G= (p.Asp366=) c.1165G= (p.Asp389=) | |
1 | g.6473042C>G | CA338133869 | PLEKHG5 | c.928G>C (p.Asp310His) c.1102G>C (p.Asp368His) c.1039G>C (p.Asp347His) n.1404G>C c.1135G>C (p.Asp379His) c.1225G>C (p.Asp409His) c.*1140G>C (n.*1140G>C) c.*756G>C (n.*756G>C) c.1159G>C (p.Asp387His) c.1096G>C (p.Asp366His) c.1165G>C (p.Asp389His) | |
1 | g.6473042C>T | CA561707 | PLEKHG5 | c.928G>A (p.Asp310Asn) c.1102G>A (p.Asp368Asn) c.1039G>A (p.Asp347Asn) n.1404G>A c.1135G>A (p.Asp379Asn) c.1225G>A (p.Asp409Asn) c.*1140G>A (n.*1140G>A) c.*756G>A (n.*756G>A) c.1159G>A (p.Asp387Asn) c.1096G>A (p.Asp366Asn) c.1165G>A (p.Asp389Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6473043C>A | CA338133872 | PLEKHG5 | c.927G>T (p.Glu309Asp) c.1101G>T (p.Glu367Asp) c.1038G>T (p.Glu346Asp) n.1403G>T c.1134G>T (p.Glu378Asp) c.1224G>T (p.Glu408Asp) c.*1139G>T (n.*1139G>T) c.*755G>T (n.*755G>T) c.1158G>T (p.Glu386Asp) c.1095G>T (p.Glu365Asp) c.1164G>T (p.Glu388Asp) | |
1 | g.6473043C= | CA1151502806 | PLEKHG5 | c.927G= (p.Glu309=) c.1101G= (p.Glu367=) c.1038G= (p.Glu346=) n.1403G= c.1134G= (p.Glu378=) c.1224G= (p.Glu408=) c.*1139G= (n.*1139G=) c.*755G= (n.*755G=) c.1158G= (p.Glu386=) c.1095G= (p.Glu365=) c.1164G= (p.Glu388=) | |
1 | g.6473043C>G | CA338133875 | PLEKHG5 | c.927G>C (p.Glu309Asp) c.1101G>C (p.Glu367Asp) c.1038G>C (p.Glu346Asp) n.1403G>C c.1134G>C (p.Glu378Asp) c.1224G>C (p.Glu408Asp) c.*1139G>C (n.*1139G>C) c.*755G>C (n.*755G>C) c.1158G>C (p.Glu386Asp) c.1095G>C (p.Glu365Asp) c.1164G>C (p.Glu388Asp) | |
1 | g.6473043C>T | CA415833452 | PLEKHG5 | c.927G>A (p.Glu309=) c.1101G>A (p.Glu367=) c.1038G>A (p.Glu346=) n.1403G>A c.1134G>A (p.Glu378=) c.1224G>A (p.Glu408=) c.*1139G>A (n.*1139G>A) c.*755G>A (n.*755G>A) c.1158G>A (p.Glu386=) c.1095G>A (p.Glu365=) c.1164G>A (p.Glu388=) | ClinVar dbSNP gnomAD v4 |
1 | g.6473044T>A | CA338133880 | PLEKHG5 | c.926A>T (p.Glu309Val) c.1100A>T (p.Glu367Val) c.1037A>T (p.Glu346Val) n.1402A>T c.1133A>T (p.Glu378Val) c.1223A>T (p.Glu408Val) c.*1138A>T (n.*1138A>T) c.*754A>T (n.*754A>T) c.1157A>T (p.Glu386Val) c.1094A>T (p.Glu365Val) c.1163A>T (p.Glu388Val) | |
1 | g.6473044T>C | CA338133896 | PLEKHG5 | c.926A>G (p.Glu309Gly) c.1100A>G (p.Glu367Gly) c.1037A>G (p.Glu346Gly) n.1402A>G c.1133A>G (p.Glu378Gly) c.1223A>G (p.Glu408Gly) c.*1138A>G (n.*1138A>G) c.*754A>G (n.*754A>G) c.1157A>G (p.Glu386Gly) c.1094A>G (p.Glu365Gly) c.1163A>G (p.Glu388Gly) | |
1 | g.6473044T>G | CA338133897 | PLEKHG5 | c.926A>C (p.Glu309Ala) c.1100A>C (p.Glu367Ala) c.1037A>C (p.Glu346Ala) n.1402A>C c.1133A>C (p.Glu378Ala) c.1223A>C (p.Glu408Ala) c.*1138A>C (n.*1138A>C) c.*754A>C (n.*754A>C) c.1157A>C (p.Glu386Ala) c.1094A>C (p.Glu365Ala) c.1163A>C (p.Glu388Ala) | |
1 | g.6473046_6473060dup | CA521018842 | PLEKHG5 | c.912_926dup (p.Asp308_Glu309insAspGluAspGluAsp) c.1086_1100dup (p.Asp366_Glu367insAspGluAspGluAsp) c.1023_1037dup (p.Asp345_Glu346insAspGluAspGluAsp) n.1388_1402dup c.1119_1133dup (p.Asp377_Glu378insAspGluAspGluAsp) c.1209_1223dup (p.Asp407_Glu408insAspGluAspGluAsp) c.*1124_*1138dup (n.*1124_*1138dup) c.*740_*754dup (n.*740_*754dup) c.1143_1157dup (p.Asp385_Glu386insAspGluAspGluAsp) c.1080_1094dup (p.Asp364_Glu365insAspGluAspGluAsp) c.1149_1163dup (p.Asp387_Glu388insAspGluAspGluAsp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6473045C>A | CA338133918 | PLEKHG5 | c.925G>T (p.Glu309Ter) c.1099G>T (p.Glu367Ter) c.1036G>T (p.Glu346Ter) n.1401G>T c.1132G>T (p.Glu378Ter) c.1222G>T (p.Glu408Ter) c.*1137G>T (n.*1137G>T) c.*753G>T (n.*753G>T) c.1156G>T (p.Glu386Ter) c.1093G>T (p.Glu365Ter) c.1162G>T (p.Glu388Ter) | |
1 | g.6473045C>G | CA338133900 | PLEKHG5 | c.925G>C (p.Glu309Gln) c.1099G>C (p.Glu367Gln) c.1036G>C (p.Glu346Gln) n.1401G>C c.1132G>C (p.Glu378Gln) c.1222G>C (p.Glu408Gln) c.*1137G>C (n.*1137G>C) c.*753G>C (n.*753G>C) c.1156G>C (p.Glu386Gln) c.1093G>C (p.Glu365Gln) c.1162G>C (p.Glu388Gln) | |
1 | g.6473045C>T | CA338133915 | PLEKHG5 | c.925G>A (p.Glu309Lys) c.1099G>A (p.Glu367Lys) c.1036G>A (p.Glu346Lys) n.1401G>A c.1132G>A (p.Glu378Lys) c.1222G>A (p.Glu408Lys) c.*1137G>A (n.*1137G>A) c.*753G>A (n.*753G>A) c.1156G>A (p.Glu386Lys) c.1093G>A (p.Glu365Lys) c.1162G>A (p.Glu388Lys) | |
1 | g.6473046A= | CA1151502816 | PLEKHG5 | c.924T= (p.Asp308=) c.1098T= (p.Asp366=) c.1035T= (p.Asp345=) n.1400T= c.1131T= (p.Asp377=) c.1221T= (p.Asp407=) c.*1136T= (n.*1136T=) c.*752T= (n.*752T=) c.1155T= (p.Asp385=) c.1092T= (p.Asp364=) c.1161T= (p.Asp387=) | |
1 | g.6473046A>C | CA338133921 | PLEKHG5 | c.924T>G (p.Asp308Glu) c.1098T>G (p.Asp366Glu) c.1035T>G (p.Asp345Glu) n.1400T>G c.1131T>G (p.Asp377Glu) c.1221T>G (p.Asp407Glu) c.*1136T>G (n.*1136T>G) c.*752T>G (n.*752T>G) c.1155T>G (p.Asp385Glu) c.1092T>G (p.Asp364Glu) c.1161T>G (p.Asp387Glu) | |
1 | g.6473046A>G | CA415833454 | PLEKHG5 | c.924T>C (p.Asp308=) c.1098T>C (p.Asp366=) c.1035T>C (p.Asp345=) n.1400T>C c.1131T>C (p.Asp377=) c.1221T>C (p.Asp407=) c.*1136T>C (n.*1136T>C) c.*752T>C (n.*752T>C) c.1155T>C (p.Asp385=) c.1092T>C (p.Asp364=) c.1161T>C (p.Asp387=) | dbSNP |
1 | g.6473046A>T | CA338133926 | PLEKHG5 | c.924T>A (p.Asp308Glu) c.1098T>A (p.Asp366Glu) c.1035T>A (p.Asp345Glu) n.1400T>A c.1131T>A (p.Asp377Glu) c.1221T>A (p.Asp407Glu) c.*1136T>A (n.*1136T>A) c.*752T>A (n.*752T>A) c.1155T>A (p.Asp385Glu) c.1092T>A (p.Asp364Glu) c.1161T>A (p.Asp387Glu) | |
1 | g.6473046_6473055delinsATCCTCGTCT | CA1151502818 | PLEKHG5 | c.915_924delinsAGACGAGGAT (p.Glu305=) c.1089_1098delinsAGACGAGGAT (p.Glu363=) c.1026_1035delinsAGACGAGGAT (p.Glu342=) n.1391_1400delinsAGACGAGGAT c.1122_1131delinsAGACGAGGAT (p.Glu374=) c.1212_1221delinsAGACGAGGAT (p.Glu404=) c.*1127_*1136delinsAGACGAGGAT (n.*1127_*1136delinsAGACGAGGAT) c.*743_*752delinsAGACGAGGAT (n.*743_*752delinsAGACGAGGAT) c.1146_1155delinsAGACGAGGAT (p.Glu382=) c.1083_1092delinsAGACGAGGAT (p.Glu361=) c.1152_1161delinsAGACGAGGAT (p.Glu384=) | |
1 | g.6473046_6473067delinsATCCTCGTCTTCATCGTACTCC | CA1151502821 | PLEKHG5 | c.903_924delinsGGAGTACGATGAAGACGAGGAT (p.Glu301=) c.1077_1098delinsGGAGTACGATGAAGACGAGGAT (p.Glu359=) c.1014_1035delinsGGAGTACGATGAAGACGAGGAT (p.Glu338=) n.1379_1400delinsGGAGTACGATGAAGACGAGGAT c.1110_1131delinsGGAGTACGATGAAGACGAGGAT (p.Glu370=) c.1200_1221delinsGGAGTACGATGAAGACGAGGAT (p.Glu400=) c.*1115_*1136delinsGGAGTACGATGAAGACGAGGAT (n.*1115_*1136delinsGGAGTACGATGAAGACGAGGAT) c.*731_*752delinsGGAGTACGATGAAGACGAGGAT (n.*731_*752delinsGGAGTACGATGAAGACGAGGAT) c.1134_1155delinsGGAGTACGATGAAGACGAGGAT (p.Glu378=) c.1071_1092delinsGGAGTACGATGAAGACGAGGAT (p.Glu357=) c.1140_1161delinsGGAGTACGATGAAGACGAGGAT (p.Glu380=) | |
1 | g.6473047T>A | CA338133938 | PLEKHG5 | c.923A>T (p.Asp308Val) c.1097A>T (p.Asp366Val) c.1034A>T (p.Asp345Val) n.1399A>T c.1130A>T (p.Asp377Val) c.1220A>T (p.Asp407Val) c.*1135A>T (n.*1135A>T) c.*751A>T (n.*751A>T) c.1154A>T (p.Asp385Val) c.1091A>T (p.Asp364Val) c.1160A>T (p.Asp387Val) | gnomAD v4 |
1 | g.6473047T>C | CA338133944 | PLEKHG5 | c.923A>G (p.Asp308Gly) c.1097A>G (p.Asp366Gly) c.1034A>G (p.Asp345Gly) n.1399A>G c.1130A>G (p.Asp377Gly) c.1220A>G (p.Asp407Gly) c.*1135A>G (n.*1135A>G) c.*751A>G (n.*751A>G) c.1154A>G (p.Asp385Gly) c.1091A>G (p.Asp364Gly) c.1160A>G (p.Asp387Gly) | |
1 | g.6473047T>G | CA338133947 | PLEKHG5 | c.923A>C (p.Asp308Ala) c.1097A>C (p.Asp366Ala) c.1034A>C (p.Asp345Ala) n.1399A>C c.1130A>C (p.Asp377Ala) c.1220A>C (p.Asp407Ala) c.*1135A>C (n.*1135A>C) c.*751A>C (n.*751A>C) c.1154A>C (p.Asp385Ala) c.1091A>C (p.Asp364Ala) c.1160A>C (p.Asp387Ala) | dbSNP |
1 | g.6473049_6473057del | CA521018844 | PLEKHG5 | c.915_923del (p.Glu305_Glu307del) c.1089_1097del (p.Glu363_Glu365del) c.1026_1034del (p.Glu342_Glu344del) n.1391_1399del c.1122_1130del (p.Glu374_Glu376del) c.1212_1220del (p.Glu404_Glu406del) c.*1127_*1135del (n.*1127_*1135del) c.*743_*751del (n.*743_*751del) c.1146_1154del (p.Glu382_Glu384del) c.1083_1091del (p.Glu361_Glu363del) c.1152_1160del (p.Glu384_Glu386del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.6473052_6473072del | CA521018843 | PLEKHG5 | c.903_923del (p.Glu301_Glu307del) c.1077_1097del (p.Glu359_Glu365del) c.1014_1034del (p.Glu338_Glu344del) n.1379_1399del c.1110_1130del (p.Glu370_Glu376del) c.1200_1220del (p.Glu400_Glu406del) c.*1115_*1135del (n.*1115_*1135del) c.*731_*751del (n.*731_*751del) c.1134_1154del (p.Glu378_Glu384del) c.1071_1091del (p.Glu357_Glu363del) c.1140_1160del (p.Glu380_Glu386del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6473048C>A | CA338133956 | PLEKHG5 | c.922G>T (p.Asp308Tyr) c.1096G>T (p.Asp366Tyr) c.1033G>T (p.Asp345Tyr) n.1398G>T c.1129G>T (p.Asp377Tyr) c.1219G>T (p.Asp407Tyr) c.*1134G>T (n.*1134G>T) c.*750G>T (n.*750G>T) c.1153G>T (p.Asp385Tyr) c.1090G>T (p.Asp364Tyr) c.1159G>T (p.Asp387Tyr) | |
1 | g.6473048C>G | CA338133955 | PLEKHG5 | c.922G>C (p.Asp308His) c.1096G>C (p.Asp366His) c.1033G>C (p.Asp345His) n.1398G>C c.1129G>C (p.Asp377His) c.1219G>C (p.Asp407His) c.*1134G>C (n.*1134G>C) c.*750G>C (n.*750G>C) c.1153G>C (p.Asp385His) c.1090G>C (p.Asp364His) c.1159G>C (p.Asp387His) | gnomAD v4 |
1 | g.6473048C>T | CA338133954 | PLEKHG5 | c.922G>A (p.Asp308Asn) c.1096G>A (p.Asp366Asn) c.1033G>A (p.Asp345Asn) n.1398G>A c.1129G>A (p.Asp377Asn) c.1219G>A (p.Asp407Asn) c.*1134G>A (n.*1134G>A) c.*750G>A (n.*750G>A) c.1153G>A (p.Asp385Asn) c.1090G>A (p.Asp364Asn) c.1159G>A (p.Asp387Asn) | |
1 | g.6473049C>A | CA338133957 | PLEKHG5 | c.921G>T (p.Glu307Asp) c.1095G>T (p.Glu365Asp) c.1032G>T (p.Glu344Asp) n.1397G>T c.1128G>T (p.Glu376Asp) c.1218G>T (p.Glu406Asp) c.*1133G>T (n.*1133G>T) c.*749G>T (n.*749G>T) c.1152G>T (p.Glu384Asp) c.1089G>T (p.Glu363Asp) c.1158G>T (p.Glu386Asp) | COSMIC COSMIC COSMIC |
1 | g.6473049C= | CA1151502842 | PLEKHG5 | c.921G= (p.Glu307=) c.1095G= (p.Glu365=) c.1032G= (p.Glu344=) n.1397G= c.1128G= (p.Glu376=) c.1218G= (p.Glu406=) c.*1133G= (n.*1133G=) c.*749G= (n.*749G=) c.1152G= (p.Glu384=) c.1089G= (p.Glu363=) c.1158G= (p.Glu386=) | |
1 | g.6473049C>G | CA338133960 | PLEKHG5 | c.921G>C (p.Glu307Asp) c.1095G>C (p.Glu365Asp) c.1032G>C (p.Glu344Asp) n.1397G>C c.1128G>C (p.Glu376Asp) c.1218G>C (p.Glu406Asp) c.*1133G>C (n.*1133G>C) c.*749G>C (n.*749G>C) c.1152G>C (p.Glu384Asp) c.1089G>C (p.Glu363Asp) c.1158G>C (p.Glu386Asp) | |
1 | g.6473049C>T | CA17241779 | PLEKHG5 | c.921G>A (p.Glu307=) c.1095G>A (p.Glu365=) c.1032G>A (p.Glu344=) n.1397G>A c.1128G>A (p.Glu376=) c.1218G>A (p.Glu406=) c.*1133G>A (n.*1133G>A) c.*749G>A (n.*749G>A) c.1152G>A (p.Glu384=) c.1089G>A (p.Glu363=) c.1158G>A (p.Glu386=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.6473050T>A | CA338133970 | PLEKHG5 | c.920A>T (p.Glu307Val) c.1094A>T (p.Glu365Val) c.1031A>T (p.Glu344Val) n.1396A>T c.1127A>T (p.Glu376Val) c.1217A>T (p.Glu406Val) c.*1132A>T (n.*1132A>T) c.*748A>T (n.*748A>T) c.1151A>T (p.Glu384Val) c.1088A>T (p.Glu363Val) c.1157A>T (p.Glu386Val) | |
1 | g.6473050T>C | CA338133971 | PLEKHG5 | c.920A>G (p.Glu307Gly) c.1094A>G (p.Glu365Gly) c.1031A>G (p.Glu344Gly) n.1396A>G c.1127A>G (p.Glu376Gly) c.1217A>G (p.Glu406Gly) c.*1132A>G (n.*1132A>G) c.*748A>G (n.*748A>G) c.1151A>G (p.Glu384Gly) c.1088A>G (p.Glu363Gly) c.1157A>G (p.Glu386Gly) | |
1 | g.6473050T>G | CA338133972 | PLEKHG5 | c.920A>C (p.Glu307Ala) c.1094A>C (p.Glu365Ala) c.1031A>C (p.Glu344Ala) n.1396A>C c.1127A>C (p.Glu376Ala) c.1217A>C (p.Glu406Ala) c.*1132A>C (n.*1132A>C) c.*748A>C (n.*748A>C) c.1151A>C (p.Glu384Ala) c.1088A>C (p.Glu363Ala) c.1157A>C (p.Glu386Ala) | |
1 | g.6473052_6473057del | CA2642982884 | PLEKHG5 | c.915_920del (p.Asp306_Glu307del) c.1089_1094del (p.Asp364_Glu365del) c.1026_1031del (p.Asp343_Glu344del) n.1391_1396del c.1122_1127del (p.Asp375_Glu376del) c.1212_1217del (p.Asp405_Glu406del) c.*1127_*1132del (n.*1127_*1132del) c.*743_*748del (n.*743_*748del) c.1146_1151del (p.Asp383_Glu384del) c.1083_1088del (p.Asp362_Glu363del) c.1152_1157del (p.Asp385_Glu386del) | gnomAD v4 |
1 | g.6473054_6473062dup | CA561708 | PLEKHG5 | c.912_920dup (p.Asp306_Glu307insAspGluAsp) c.1086_1094dup (p.Asp364_Glu365insAspGluAsp) c.1023_1031dup (p.Asp343_Glu344insAspGluAsp) n.1388_1396dup c.1119_1127dup (p.Asp375_Glu376insAspGluAsp) c.1209_1217dup (p.Asp405_Glu406insAspGluAsp) c.*1124_*1132dup (n.*1124_*1132dup) c.*740_*748dup (n.*740_*748dup) c.1143_1151dup (p.Asp383_Glu384insAspGluAsp) c.1080_1088dup (p.Asp362_Glu363insAspGluAsp) c.1149_1157dup (p.Asp385_Glu386insAspGluAsp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6473051C>A | CA338133974 | PLEKHG5 | c.919G>T (p.Glu307Ter) c.1093G>T (p.Glu365Ter) c.1030G>T (p.Glu344Ter) n.1395G>T c.1126G>T (p.Glu376Ter) c.1216G>T (p.Glu406Ter) c.*1131G>T (n.*1131G>T) c.*747G>T (n.*747G>T) c.1150G>T (p.Glu384Ter) c.1087G>T (p.Glu363Ter) c.1156G>T (p.Glu386Ter) | |
1 | g.6473051C= | CA1142258597 | PLEKHG5 | c.919G= (p.Glu307=) c.1093G= (p.Glu365=) c.1030G= (p.Glu344=) n.1395G= c.1126G= (p.Glu376=) c.1216G= (p.Glu406=) c.*1131G= (n.*1131G=) c.*747G= (n.*747G=) c.1150G= (p.Glu384=) c.1087G= (p.Glu363=) c.1156G= (p.Glu386=) | |
1 | g.6473051C>G | CA338133979 | PLEKHG5 | c.919G>C (p.Glu307Gln) c.1093G>C (p.Glu365Gln) c.1030G>C (p.Glu344Gln) n.1395G>C c.1126G>C (p.Glu376Gln) c.1216G>C (p.Glu406Gln) c.*1131G>C (n.*1131G>C) c.*747G>C (n.*747G>C) c.1150G>C (p.Glu384Gln) c.1087G>C (p.Glu363Gln) c.1156G>C (p.Glu386Gln) | ClinVar dbSNP gnomAD v4 |
1 | g.6473051C>T | CA561709 | PLEKHG5 | c.919G>A (p.Glu307Lys) c.1093G>A (p.Glu365Lys) c.1030G>A (p.Glu344Lys) n.1395G>A c.1126G>A (p.Glu376Lys) c.1216G>A (p.Glu406Lys) c.*1131G>A (n.*1131G>A) c.*747G>A (n.*747G>A) c.1150G>A (p.Glu384Lys) c.1087G>A (p.Glu363Lys) c.1156G>A (p.Glu386Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6473052G>A | CA561710 | PLEKHG5 | c.918C>T (p.Asp306=) c.1092C>T (p.Asp364=) c.1029C>T (p.Asp343=) n.1394C>T c.1125C>T (p.Asp375=) c.1215C>T (p.Asp405=) c.*1130C>T (n.*1130C>T) c.*746C>T (n.*746C>T) c.1149C>T (p.Asp383=) c.1086C>T (p.Asp362=) c.1155C>T (p.Asp385=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6473052G>C | CA338133998 | PLEKHG5 | c.918C>G (p.Asp306Glu) c.1092C>G (p.Asp364Glu) c.1029C>G (p.Asp343Glu) n.1394C>G c.1125C>G (p.Asp375Glu) c.1215C>G (p.Asp405Glu) c.*1130C>G (n.*1130C>G) c.*746C>G (n.*746C>G) c.1149C>G (p.Asp383Glu) c.1086C>G (p.Asp362Glu) c.1155C>G (p.Asp385Glu) | |
1 | g.6473052G= | CA1141216205 | PLEKHG5 | c.918C= (p.Asp306=) c.1092C= (p.Asp364=) c.1029C= (p.Asp343=) n.1394C= c.1125C= (p.Asp375=) c.1215C= (p.Asp405=) c.*1130C= (n.*1130C=) c.*746C= (n.*746C=) c.1149C= (p.Asp383=) c.1086C= (p.Asp362=) c.1155C= (p.Asp385=) | |
1 | g.6473052G>T | CA338133993 | PLEKHG5 | c.918C>A (p.Asp306Glu) c.1092C>A (p.Asp364Glu) c.1029C>A (p.Asp343Glu) n.1394C>A c.1125C>A (p.Asp375Glu) c.1215C>A (p.Asp405Glu) c.*1130C>A (n.*1130C>A) c.*746C>A (n.*746C>A) c.1149C>A (p.Asp383Glu) c.1086C>A (p.Asp362Glu) c.1155C>A (p.Asp385Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6473052_6473056del | CA2574195611 | PLEKHG5 | c.914_918del (p.Glu305GlyfsTer3) c.1088_1092del (p.Glu363GlyfsTer3) c.1025_1029del (p.Glu342GlyfsTer3) n.1390_1394del c.1121_1125del (p.Glu374GlyfsTer3) c.1211_1215del (p.Glu404GlyfsTer3) c.*1126_*1130del (n.*1126_*1130del) c.*742_*746del (n.*742_*746del) c.1145_1149del (p.Glu382GlyfsTer3) c.1082_1086del (p.Glu361GlyfsTer3) c.1151_1155del (p.Glu384GlyfsTer3) | |
1 | g.6473052_6473058delinsGTCTTCA | CA1144228658 | PLEKHG5 | c.912_918delinsTGAAGAC (p.Asp304=) c.1086_1092delinsTGAAGAC (p.Asp362=) c.1023_1029delinsTGAAGAC (p.Asp341=) n.1388_1394delinsTGAAGAC c.1119_1125delinsTGAAGAC (p.Asp373=) c.1209_1215delinsTGAAGAC (p.Asp403=) c.*1124_*1130delinsTGAAGAC (n.*1124_*1130delinsTGAAGAC) c.*740_*746delinsTGAAGAC (n.*740_*746delinsTGAAGAC) c.1143_1149delinsTGAAGAC (p.Asp381=) c.1080_1086delinsTGAAGAC (p.Asp360=) c.1149_1155delinsTGAAGAC (p.Asp383=) | |
1 | g.6473052_6473058dup | CA144675 | PLEKHG5 | c.912_918dup (p.Glu307Ter) c.1086_1092dup (p.Glu365Ter) c.1023_1029dup (p.Glu344Ter) n.1388_1394dup c.1119_1125dup (p.Glu376Ter) c.1209_1215dup (p.Glu406Ter) c.*1124_*1130dup (n.*1124_*1130dup) c.*740_*746dup (n.*740_*746dup) c.1143_1149dup (p.Glu384Ter) c.1080_1086dup (p.Glu363Ter) c.1149_1155dup (p.Glu386Ter) | ClinVar dbSNP |
1 | g.6473053T>A | CA338134003 | PLEKHG5 | c.917A>T (p.Asp306Val) c.1091A>T (p.Asp364Val) c.1028A>T (p.Asp343Val) n.1393A>T c.1124A>T (p.Asp375Val) c.1214A>T (p.Asp405Val) c.*1129A>T (n.*1129A>T) c.*745A>T (n.*745A>T) c.1148A>T (p.Asp383Val) c.1085A>T (p.Asp362Val) c.1154A>T (p.Asp385Val) | |
1 | g.6473053T>C | CA561711 | PLEKHG5 | c.917A>G (p.Asp306Gly) c.1091A>G (p.Asp364Gly) c.1028A>G (p.Asp343Gly) n.1393A>G c.1124A>G (p.Asp375Gly) c.1214A>G (p.Asp405Gly) c.*1129A>G (n.*1129A>G) c.*745A>G (n.*745A>G) c.1148A>G (p.Asp383Gly) c.1085A>G (p.Asp362Gly) c.1154A>G (p.Asp385Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6473053T>G | CA338134017 | PLEKHG5 | c.917A>C (p.Asp306Ala) c.1091A>C (p.Asp364Ala) c.1028A>C (p.Asp343Ala) n.1393A>C c.1124A>C (p.Asp375Ala) c.1214A>C (p.Asp405Ala) c.*1129A>C (n.*1129A>C) c.*745A>C (n.*745A>C) c.1148A>C (p.Asp383Ala) c.1085A>C (p.Asp362Ala) c.1154A>C (p.Asp385Ala) | dbSNP gnomAD v4 |
1 | g.6473053T= | CA1142047050 | PLEKHG5 | c.917A= (p.Asp306=) c.1091A= (p.Asp364=) c.1028A= (p.Asp343=) n.1393A= c.1124A= (p.Asp375=) c.1214A= (p.Asp405=) c.*1129A= (n.*1129A=) c.*745A= (n.*745A=) c.1148A= (p.Asp383=) c.1085A= (p.Asp362=) c.1154A= (p.Asp385=) | |
1 | g.6473055_6473060dup | CA2574195614 | PLEKHG5 | c.912_917dup (p.Asp306_Glu307insGluAsp) c.1086_1091dup (p.Asp364_Glu365insGluAsp) c.1023_1028dup (p.Asp343_Glu344insGluAsp) n.1388_1393dup c.1119_1124dup (p.Asp375_Glu376insGluAsp) c.1209_1214dup (p.Asp405_Glu406insGluAsp) c.*1124_*1129dup (n.*1124_*1129dup) c.*740_*745dup (n.*740_*745dup) c.1143_1148dup (p.Asp383_Glu384insGluAsp) c.1080_1085dup (p.Asp362_Glu363insGluAsp) c.1149_1154dup (p.Asp385_Glu386insGluAsp) | |
1 | g.6473054C>A | CA338134024 | PLEKHG5 | c.916G>T (p.Asp306Tyr) c.1090G>T (p.Asp364Tyr) c.1027G>T (p.Asp343Tyr) n.1392G>T c.1123G>T (p.Asp375Tyr) c.1213G>T (p.Asp405Tyr) c.*1128G>T (n.*1128G>T) c.*744G>T (n.*744G>T) c.1147G>T (p.Asp383Tyr) c.1084G>T (p.Asp362Tyr) c.1153G>T (p.Asp385Tyr) | |
1 | g.6473054C= | CA1151502874 | PLEKHG5 | c.916G= (p.Asp306=) c.1090G= (p.Asp364=) c.1027G= (p.Asp343=) n.1392G= c.1123G= (p.Asp375=) c.1213G= (p.Asp405=) c.*1128G= (n.*1128G=) c.*744G= (n.*744G=) c.1147G= (p.Asp383=) c.1084G= (p.Asp362=) c.1153G= (p.Asp385=) | |
1 | g.6473054C>G | CA338134036 | PLEKHG5 | c.916G>C (p.Asp306His) c.1090G>C (p.Asp364His) c.1027G>C (p.Asp343His) n.1392G>C c.1123G>C (p.Asp375His) c.1213G>C (p.Asp405His) c.*1128G>C (n.*1128G>C) c.*744G>C (n.*744G>C) c.1147G>C (p.Asp383His) c.1084G>C (p.Asp362His) c.1153G>C (p.Asp385His) | |
1 | g.6473054C>T | CA561712 | PLEKHG5 | c.916G>A (p.Asp306Asn) c.1090G>A (p.Asp364Asn) c.1027G>A (p.Asp343Asn) n.1392G>A c.1123G>A (p.Asp375Asn) c.1213G>A (p.Asp405Asn) c.*1128G>A (n.*1128G>A) c.*744G>A (n.*744G>A) c.1147G>A (p.Asp383Asn) c.1084G>A (p.Asp362Asn) c.1153G>A (p.Asp385Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6473055T>A | CA338134048 | PLEKHG5 | c.915A>T (p.Glu305Asp) c.1089A>T (p.Glu363Asp) c.1026A>T (p.Glu342Asp) n.1391A>T c.1122A>T (p.Glu374Asp) c.1212A>T (p.Glu404Asp) c.*1127A>T (n.*1127A>T) c.*743A>T (n.*743A>T) c.1146A>T (p.Glu382Asp) c.1083A>T (p.Glu361Asp) c.1152A>T (p.Glu384Asp) | |
1 | g.6473055T>C | CA17241843 | PLEKHG5 | c.915A>G (p.Glu305=) c.1089A>G (p.Glu363=) c.1026A>G (p.Glu342=) n.1391A>G c.1122A>G (p.Glu374=) c.1212A>G (p.Glu404=) c.*1127A>G (n.*1127A>G) c.*743A>G (n.*743A>G) c.1146A>G (p.Glu382=) c.1083A>G (p.Glu361=) c.1152A>G (p.Glu384=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6473055T>G | CA338134056 | PLEKHG5 | c.915A>C (p.Glu305Asp) c.1089A>C (p.Glu363Asp) c.1026A>C (p.Glu342Asp) n.1391A>C c.1122A>C (p.Glu374Asp) c.1212A>C (p.Glu404Asp) c.*1127A>C (n.*1127A>C) c.*743A>C (n.*743A>C) c.1146A>C (p.Glu382Asp) c.1083A>C (p.Glu361Asp) c.1152A>C (p.Glu384Asp) | |
1 | g.6473055T= | CA1143480854 | PLEKHG5 | c.915A= (p.Glu305=) c.1089A= (p.Glu363=) c.1026A= (p.Glu342=) n.1391A= c.1122A= (p.Glu374=) c.1212A= (p.Glu404=) c.*1127A= (n.*1127A=) c.*743A= (n.*743A=) c.1146A= (p.Glu382=) c.1083A= (p.Glu361=) c.1152A= (p.Glu384=) | |
1 | g.6473055_6473058delinsTTCA | CA1151502883 | PLEKHG5 | c.912_915delinsTGAA (p.Asp304=) c.1086_1089delinsTGAA (p.Asp362=) c.1023_1026delinsTGAA (p.Asp341=) n.1388_1391delinsTGAA c.1119_1122delinsTGAA (p.Asp373=) c.1209_1212delinsTGAA (p.Asp403=) c.*1124_*1127delinsTGAA (n.*1124_*1127delinsTGAA) c.*740_*743delinsTGAA (n.*740_*743delinsTGAA) c.1143_1146delinsTGAA (p.Asp381=) c.1080_1083delinsTGAA (p.Asp360=) c.1149_1152delinsTGAA (p.Asp383=) | |
1 | g.6473056_6473059dup | CA998177975 | PLEKHG5 | c.912_915dup (p.Asp306Ter) c.1086_1089dup (p.Asp364Ter) c.1023_1026dup (p.Asp343Ter) n.1388_1391dup c.1119_1122dup (p.Asp375Ter) c.1209_1212dup (p.Asp405Ter) c.*1124_*1127dup (n.*1124_*1127dup) c.*740_*743dup (n.*740_*743dup) c.1143_1146dup (p.Asp383Ter) c.1080_1083dup (p.Asp362Ter) c.1149_1152dup (p.Asp385Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6473056T>A | CA338134063 | PLEKHG5 | c.914A>T (p.Glu305Val) c.1088A>T (p.Glu363Val) c.1025A>T (p.Glu342Val) n.1390A>T c.1121A>T (p.Glu374Val) c.1211A>T (p.Glu404Val) c.*1126A>T (n.*1126A>T) c.*742A>T (n.*742A>T) c.1145A>T (p.Glu382Val) c.1082A>T (p.Glu361Val) c.1151A>T (p.Glu384Val) | |
1 | g.6473056T>C | CA338134066 | PLEKHG5 | c.914A>G (p.Glu305Gly) c.1088A>G (p.Glu363Gly) c.1025A>G (p.Glu342Gly) n.1390A>G c.1121A>G (p.Glu374Gly) c.1211A>G (p.Glu404Gly) c.*1126A>G (n.*1126A>G) c.*742A>G (n.*742A>G) c.1145A>G (p.Glu382Gly) c.1082A>G (p.Glu361Gly) c.1151A>G (p.Glu384Gly) | |
1 | g.6473056T>G | CA338134078 | PLEKHG5 | c.914A>C (p.Glu305Ala) c.1088A>C (p.Glu363Ala) c.1025A>C (p.Glu342Ala) n.1390A>C c.1121A>C (p.Glu374Ala) c.1211A>C (p.Glu404Ala) c.*1126A>C (n.*1126A>C) c.*742A>C (n.*742A>C) c.1145A>C (p.Glu382Ala) c.1082A>C (p.Glu361Ala) c.1151A>C (p.Glu384Ala) | |
1 | g.6473058_6473060dup | CA2574195626 | PLEKHG5 | c.912_914dup (p.Asp304_Glu305insAsp) c.1086_1088dup (p.Asp362_Glu363insAsp) c.1023_1025dup (p.Asp341_Glu342insAsp) n.1388_1390dup c.1119_1121dup (p.Asp373_Glu374insAsp) c.1209_1211dup (p.Asp403_Glu404insAsp) c.*1124_*1126dup (n.*1124_*1126dup) c.*740_*742dup (n.*740_*742dup) c.1143_1145dup (p.Asp381_Glu382insAsp) c.1080_1082dup (p.Asp360_Glu361insAsp) c.1149_1151dup (p.Asp383_Glu384insAsp) | |
1 | g.6473058_6473060del | CA913189289 | PLEKHG5 | c.912_914del (p.Asp304del) c.1086_1088del (p.Asp362del) c.1023_1025del (p.Asp341del) n.1388_1390del c.1119_1121del (p.Asp373del) c.1209_1211del (p.Asp403del) c.*1124_*1126del (n.*1124_*1126del) c.*740_*742del (n.*740_*742del) c.1143_1145del (p.Asp381del) c.1080_1082del (p.Asp360del) c.1149_1151del (p.Asp383del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.6473057C>A | CA338134086 | PLEKHG5 | c.913G>T (p.Glu305Ter) c.1087G>T (p.Glu363Ter) c.1024G>T (p.Glu342Ter) n.1389G>T c.1120G>T (p.Glu374Ter) c.1210G>T (p.Glu404Ter) c.*1125G>T (n.*1125G>T) c.*741G>T (n.*741G>T) c.1144G>T (p.Glu382Ter) c.1081G>T (p.Glu361Ter) c.1150G>T (p.Glu384Ter) | |
1 | g.6473057C= | CA1151502896 | PLEKHG5 | c.913G= (p.Glu305=) c.1087G= (p.Glu363=) c.1024G= (p.Glu342=) n.1389G= c.1120G= (p.Glu374=) c.1210G= (p.Glu404=) c.*1125G= (n.*1125G=) c.*741G= (n.*741G=) c.1144G= (p.Glu382=) c.1081G= (p.Glu361=) c.1150G= (p.Glu384=) | |
1 | g.6473057C>G | CA338134098 | PLEKHG5 | c.913G>C (p.Glu305Gln) c.1087G>C (p.Glu363Gln) c.1024G>C (p.Glu342Gln) n.1389G>C c.1120G>C (p.Glu374Gln) c.1210G>C (p.Glu404Gln) c.*1125G>C (n.*1125G>C) c.*741G>C (n.*741G>C) c.1144G>C (p.Glu382Gln) c.1081G>C (p.Glu361Gln) c.1150G>C (p.Glu384Gln) | |
1 | g.6473057C>T | CA561713 | PLEKHG5 | c.913G>A (p.Glu305Lys) c.1087G>A (p.Glu363Lys) c.1024G>A (p.Glu342Lys) n.1389G>A c.1120G>A (p.Glu374Lys) c.1210G>A (p.Glu404Lys) c.*1125G>A (n.*1125G>A) c.*741G>A (n.*741G>A) c.1144G>A (p.Glu382Lys) c.1081G>A (p.Glu361Lys) c.1150G>A (p.Glu384Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6473058A= | CA1151502904 | PLEKHG5 | c.912T= (p.Asp304=) c.1086T= (p.Asp362=) c.1023T= (p.Asp341=) n.1388T= c.1119T= (p.Asp373=) c.1209T= (p.Asp403=) c.*1124T= (n.*1124T=) c.*740T= (n.*740T=) c.1143T= (p.Asp381=) c.1080T= (p.Asp360=) c.1149T= (p.Asp383=) | |
1 | g.6473058A>C | CA338134110 | PLEKHG5 | c.912T>G (p.Asp304Glu) c.1086T>G (p.Asp362Glu) c.1023T>G (p.Asp341Glu) n.1388T>G c.1119T>G (p.Asp373Glu) c.1209T>G (p.Asp403Glu) c.*1124T>G (n.*1124T>G) c.*740T>G (n.*740T>G) c.1143T>G (p.Asp381Glu) c.1080T>G (p.Asp360Glu) c.1149T>G (p.Asp383Glu) | dbSNP |
1 | g.6473058A>G | CA415833464 | PLEKHG5 | c.912T>C (p.Asp304=) c.1086T>C (p.Asp362=) c.1023T>C (p.Asp341=) n.1388T>C c.1119T>C (p.Asp373=) c.1209T>C (p.Asp403=) c.*1124T>C (n.*1124T>C) c.*740T>C (n.*740T>C) c.1143T>C (p.Asp381=) c.1080T>C (p.Asp360=) c.1149T>C (p.Asp383=) | |
1 | g.6473058A>T | CA338134115 | PLEKHG5 | c.912T>A (p.Asp304Glu) c.1086T>A (p.Asp362Glu) c.1023T>A (p.Asp341Glu) n.1388T>A c.1119T>A (p.Asp373Glu) c.1209T>A (p.Asp403Glu) c.*1124T>A (n.*1124T>A) c.*740T>A (n.*740T>A) c.1143T>A (p.Asp381Glu) c.1080T>A (p.Asp360Glu) c.1149T>A (p.Asp383Glu) | |
1 | g.6473059T>A | CA338134135 | PLEKHG5 | c.911A>T (p.Asp304Val) c.1085A>T (p.Asp362Val) c.1022A>T (p.Asp341Val) n.1387A>T c.1118A>T (p.Asp373Val) c.1208A>T (p.Asp403Val) c.*1123A>T (n.*1123A>T) c.*739A>T (n.*739A>T) c.1142A>T (p.Asp381Val) c.1079A>T (p.Asp360Val) c.1148A>T (p.Asp383Val) | gnomAD v4 |
1 | g.6473059T>C | CA338134139 | PLEKHG5 | c.911A>G (p.Asp304Gly) c.1085A>G (p.Asp362Gly) c.1022A>G (p.Asp341Gly) n.1387A>G c.1118A>G (p.Asp373Gly) c.1208A>G (p.Asp403Gly) c.*1123A>G (n.*1123A>G) c.*739A>G (n.*739A>G) c.1142A>G (p.Asp381Gly) c.1079A>G (p.Asp360Gly) c.1148A>G (p.Asp383Gly) | gnomAD v4 |
1 | g.6473059T>G | CA338134137 | PLEKHG5 | c.911A>C (p.Asp304Ala) c.1085A>C (p.Asp362Ala) c.1022A>C (p.Asp341Ala) n.1387A>C c.1118A>C (p.Asp373Ala) c.1208A>C (p.Asp403Ala) c.*1123A>C (n.*1123A>C) c.*739A>C (n.*739A>C) c.1142A>C (p.Asp381Ala) c.1079A>C (p.Asp360Ala) c.1148A>C (p.Asp383Ala) | |
1 | g.6473060_6473062del | CA2573132141 | PLEKHG5 | c.909_911del (p.Asp304del) c.1083_1085del (p.Asp362del) c.1020_1022del (p.Asp341del) n.1385_1387del c.1116_1118del (p.Asp373del) c.1206_1208del (p.Asp403del) c.*1121_*1123del (n.*1121_*1123del) c.*737_*739del (n.*737_*739del) c.1140_1142del (p.Asp381del) c.1077_1079del (p.Asp360del) c.1146_1148del (p.Asp383del) | ClinVar dbSNP gnomAD v4 |
1 | g.6473060C>A | CA338134146 | PLEKHG5 | c.910G>T (p.Asp304Tyr) c.1084G>T (p.Asp362Tyr) c.1021G>T (p.Asp341Tyr) n.1386G>T c.1117G>T (p.Asp373Tyr) c.1207G>T (p.Asp403Tyr) c.*1122G>T (n.*1122G>T) c.*738G>T (n.*738G>T) c.1141G>T (p.Asp381Tyr) c.1078G>T (p.Asp360Tyr) c.1147G>T (p.Asp383Tyr) | gnomAD v4 |
1 | g.6473060C= | CA1151502910 | PLEKHG5 | c.910G= (p.Asp304=) c.1084G= (p.Asp362=) c.1021G= (p.Asp341=) n.1386G= c.1117G= (p.Asp373=) c.1207G= (p.Asp403=) c.*1122G= (n.*1122G=) c.*738G= (n.*738G=) c.1141G= (p.Asp381=) c.1078G= (p.Asp360=) c.1147G= (p.Asp383=) | |
1 | g.6473060C>G | CA338134168 | PLEKHG5 | c.910G>C (p.Asp304His) c.1084G>C (p.Asp362His) c.1021G>C (p.Asp341His) n.1386G>C c.1117G>C (p.Asp373His) c.1207G>C (p.Asp403His) c.*1122G>C (n.*1122G>C) c.*738G>C (n.*738G>C) c.1141G>C (p.Asp381His) c.1078G>C (p.Asp360His) c.1147G>C (p.Asp383His) | dbSNP gnomAD v4 |
1 | g.6473060C>T | CA338134174 | PLEKHG5 | c.910G>A (p.Asp304Asn) c.1084G>A (p.Asp362Asn) c.1021G>A (p.Asp341Asn) n.1386G>A c.1117G>A (p.Asp373Asn) c.1207G>A (p.Asp403Asn) c.*1122G>A (n.*1122G>A) c.*738G>A (n.*738G>A) c.1141G>A (p.Asp381Asn) c.1078G>A (p.Asp360Asn) c.1147G>A (p.Asp383Asn) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6473061G>A | CA561714 | PLEKHG5 | c.909C>T (p.Tyr303=) c.1083C>T (p.Tyr361=) c.1020C>T (p.Tyr340=) n.1385C>T c.1116C>T (p.Tyr372=) c.1206C>T (p.Tyr402=) c.*1121C>T (n.*1121C>T) c.*737C>T (n.*737C>T) c.1140C>T (p.Tyr380=) c.1077C>T (p.Tyr359=) c.1146C>T (p.Tyr382=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6473061G>C | CA338134175 | PLEKHG5 | c.909C>G (p.Tyr303Ter) c.1083C>G (p.Tyr361Ter) c.1020C>G (p.Tyr340Ter) n.1385C>G c.1116C>G (p.Tyr372Ter) c.1206C>G (p.Tyr402Ter) c.*1121C>G (n.*1121C>G) c.*737C>G (n.*737C>G) c.1140C>G (p.Tyr380Ter) c.1077C>G (p.Tyr359Ter) c.1146C>G (p.Tyr382Ter) | gnomAD v4 |
1 | g.6473061G= | CA1144157166 | PLEKHG5 | c.909C= (p.Tyr303=) c.1083C= (p.Tyr361=) c.1020C= (p.Tyr340=) n.1385C= c.1116C= (p.Tyr372=) c.1206C= (p.Tyr402=) c.*1121C= (n.*1121C=) c.*737C= (n.*737C=) c.1140C= (p.Tyr380=) c.1077C= (p.Tyr359=) c.1146C= (p.Tyr382=) | |
1 | g.6473061G>T | CA338134179 | PLEKHG5 | c.909C>A (p.Tyr303Ter) c.1083C>A (p.Tyr361Ter) c.1020C>A (p.Tyr340Ter) n.1385C>A c.1116C>A (p.Tyr372Ter) c.1206C>A (p.Tyr402Ter) c.*1121C>A (n.*1121C>A) c.*737C>A (n.*737C>A) c.1140C>A (p.Tyr380Ter) c.1077C>A (p.Tyr359Ter) c.1146C>A (p.Tyr382Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.6473062T>A | CA338134192 | PLEKHG5 | c.908A>T (p.Tyr303Phe) c.1082A>T (p.Tyr361Phe) c.1019A>T (p.Tyr340Phe) n.1384A>T c.1115A>T (p.Tyr372Phe) c.1205A>T (p.Tyr402Phe) c.*1120A>T (n.*1120A>T) c.*736A>T (n.*736A>T) c.1139A>T (p.Tyr380Phe) c.1076A>T (p.Tyr359Phe) c.1145A>T (p.Tyr382Phe) | |
1 | g.6473062T>C | CA338134194 | PLEKHG5 | c.908A>G (p.Tyr303Cys) c.1082A>G (p.Tyr361Cys) c.1019A>G (p.Tyr340Cys) n.1384A>G c.1115A>G (p.Tyr372Cys) c.1205A>G (p.Tyr402Cys) c.*1120A>G (n.*1120A>G) c.*736A>G (n.*736A>G) c.1139A>G (p.Tyr380Cys) c.1076A>G (p.Tyr359Cys) c.1145A>G (p.Tyr382Cys) | |
1 | g.6473062T>G | CA338134202 | PLEKHG5 | c.908A>C (p.Tyr303Ser) c.1082A>C (p.Tyr361Ser) c.1019A>C (p.Tyr340Ser) n.1384A>C c.1115A>C (p.Tyr372Ser) c.1205A>C (p.Tyr402Ser) c.*1120A>C (n.*1120A>C) c.*736A>C (n.*736A>C) c.1139A>C (p.Tyr380Ser) c.1076A>C (p.Tyr359Ser) c.1145A>C (p.Tyr382Ser) | |
1 | g.6473063A= | CA1151502932 | PLEKHG5 | c.907T= (p.Tyr303=) c.1081T= (p.Tyr361=) c.1018T= (p.Tyr340=) n.1383T= c.1114T= (p.Tyr372=) c.1204T= (p.Tyr402=) c.*1119T= (n.*1119T=) c.*735T= (n.*735T=) c.1138T= (p.Tyr380=) c.1075T= (p.Tyr359=) c.1144T= (p.Tyr382=) | |
1 | g.6473063A>C | CA338134209 | PLEKHG5 | c.907T>G (p.Tyr303Asp) c.1081T>G (p.Tyr361Asp) c.1018T>G (p.Tyr340Asp) n.1383T>G c.1114T>G (p.Tyr372Asp) c.1204T>G (p.Tyr402Asp) c.*1119T>G (n.*1119T>G) c.*735T>G (n.*735T>G) c.1138T>G (p.Tyr380Asp) c.1075T>G (p.Tyr359Asp) c.1144T>G (p.Tyr382Asp) | |
1 | g.6473063A>G | CA338134211 | PLEKHG5 | c.907T>C (p.Tyr303His) c.1081T>C (p.Tyr361His) c.1018T>C (p.Tyr340His) n.1383T>C c.1114T>C (p.Tyr372His) c.1204T>C (p.Tyr402His) c.*1119T>C (n.*1119T>C) c.*735T>C (n.*735T>C) c.1138T>C (p.Tyr380His) c.1075T>C (p.Tyr359His) c.1144T>C (p.Tyr382His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6473063A>T | CA338134215 | PLEKHG5 | c.907T>A (p.Tyr303Asn) c.1081T>A (p.Tyr361Asn) c.1018T>A (p.Tyr340Asn) n.1383T>A c.1114T>A (p.Tyr372Asn) c.1204T>A (p.Tyr402Asn) c.*1119T>A (n.*1119T>A) c.*735T>A (n.*735T>A) c.1138T>A (p.Tyr380Asn) c.1075T>A (p.Tyr359Asn) c.1144T>A (p.Tyr382Asn) | |
1 | g.6473063_6473066delinsACTC | CA1151502934 | PLEKHG5 | c.904_907delinsGAGT (p.Glu302=) c.1078_1081delinsGAGT (p.Glu360=) c.1015_1018delinsGAGT (p.Glu339=) n.1380_1383delinsGAGT c.1111_1114delinsGAGT (p.Glu371=) c.1201_1204delinsGAGT (p.Glu401=) c.*1116_*1119delinsGAGT (n.*1116_*1119delinsGAGT) c.*732_*735delinsGAGT (n.*732_*735delinsGAGT) c.1135_1138delinsGAGT (p.Glu379=) c.1072_1075delinsGAGT (p.Glu358=) c.1141_1144delinsGAGT (p.Glu381=) | |
1 | g.6473064C>A | CA338134233 | PLEKHG5 | c.906G>T (p.Glu302Asp) c.1080G>T (p.Glu360Asp) c.1017G>T (p.Glu339Asp) n.1382G>T c.1113G>T (p.Glu371Asp) c.1203G>T (p.Glu401Asp) c.*1118G>T (n.*1118G>T) c.*734G>T (n.*734G>T) c.1137G>T (p.Glu379Asp) c.1074G>T (p.Glu358Asp) c.1143G>T (p.Glu381Asp) | |
1 | g.6473064C= | CA1151502946 | PLEKHG5 | c.906G= (p.Glu302=) c.1080G= (p.Glu360=) c.1017G= (p.Glu339=) n.1382G= c.1113G= (p.Glu371=) c.1203G= (p.Glu401=) c.*1118G= (n.*1118G=) c.*734G= (n.*734G=) c.1137G= (p.Glu379=) c.1074G= (p.Glu358=) c.1143G= (p.Glu381=) | |
1 | g.6473064C>G | CA338134221 | PLEKHG5 | c.906G>C (p.Glu302Asp) c.1080G>C (p.Glu360Asp) c.1017G>C (p.Glu339Asp) n.1382G>C c.1113G>C (p.Glu371Asp) c.1203G>C (p.Glu401Asp) c.*1118G>C (n.*1118G>C) c.*734G>C (n.*734G>C) c.1137G>C (p.Glu379Asp) c.1074G>C (p.Glu358Asp) c.1143G>C (p.Glu381Asp) | |
1 | g.6473064C>T | CA415833465 | PLEKHG5 | c.906G>A (p.Glu302=) c.1080G>A (p.Glu360=) c.1017G>A (p.Glu339=) n.1382G>A c.1113G>A (p.Glu371=) c.1203G>A (p.Glu401=) c.*1118G>A (n.*1118G>A) c.*734G>A (n.*734G>A) c.1137G>A (p.Glu379=) c.1074G>A (p.Glu358=) c.1143G>A (p.Glu381=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.6473071_6473073del | CA521018845 | PLEKHG5 | c.904_906del (p.Glu302del) c.1078_1080del (p.Glu360del) c.1015_1017del (p.Glu339del) n.1380_1382del c.1111_1113del (p.Glu371del) c.1201_1203del (p.Glu401del) c.*1116_*1118del (n.*1116_*1118del) c.*732_*734del (n.*732_*734del) c.1135_1137del (p.Glu379del) c.1072_1074del (p.Glu358del) c.1141_1143del (p.Glu381del) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.6473065T>A | CA338134234 | PLEKHG5 | c.905A>T (p.Glu302Val) c.1079A>T (p.Glu360Val) c.1016A>T (p.Glu339Val) n.1381A>T c.1112A>T (p.Glu371Val) c.1202A>T (p.Glu401Val) c.*1117A>T (n.*1117A>T) c.*733A>T (n.*733A>T) c.1136A>T (p.Glu379Val) c.1073A>T (p.Glu358Val) c.1142A>T (p.Glu381Val) | |
1 | g.6473065T>C | CA338134238 | PLEKHG5 | c.905A>G (p.Glu302Gly) c.1079A>G (p.Glu360Gly) c.1016A>G (p.Glu339Gly) n.1381A>G c.1112A>G (p.Glu371Gly) c.1202A>G (p.Glu401Gly) c.*1117A>G (n.*1117A>G) c.*733A>G (n.*733A>G) c.1136A>G (p.Glu379Gly) c.1073A>G (p.Glu358Gly) c.1142A>G (p.Glu381Gly) | |
1 | g.6473065T>G | CA338134239 | PLEKHG5 | c.905A>C (p.Glu302Ala) c.1079A>C (p.Glu360Ala) c.1016A>C (p.Glu339Ala) n.1381A>C c.1112A>C (p.Glu371Ala) c.1202A>C (p.Glu401Ala) c.*1117A>C (n.*1117A>C) c.*733A>C (n.*733A>C) c.1136A>C (p.Glu379Ala) c.1073A>C (p.Glu358Ala) c.1142A>C (p.Glu381Ala) | |
1 | g.6473066C>A | CA338134241 | PLEKHG5 | c.904G>T (p.Glu302Ter) c.1078G>T (p.Glu360Ter) c.1015G>T (p.Glu339Ter) n.1380G>T c.1111G>T (p.Glu371Ter) c.1201G>T (p.Glu401Ter) c.*1116G>T (n.*1116G>T) c.*732G>T (n.*732G>T) c.1135G>T (p.Glu379Ter) c.1072G>T (p.Glu358Ter) c.1141G>T (p.Glu381Ter) | |
1 | g.6473066C= | CA1151502956 | PLEKHG5 | c.904G= (p.Glu302=) c.1078G= (p.Glu360=) c.1015G= (p.Glu339=) n.1380G= c.1111G= (p.Glu371=) c.1201G= (p.Glu401=) c.*1116G= (n.*1116G=) c.*732G= (n.*732G=) c.1135G= (p.Glu379=) c.1072G= (p.Glu358=) c.1141G= (p.Glu381=) | |
1 | g.6473066C>G | CA338134242 | PLEKHG5 | c.904G>C (p.Glu302Gln) c.1078G>C (p.Glu360Gln) c.1015G>C (p.Glu339Gln) n.1380G>C c.1111G>C (p.Glu371Gln) c.1201G>C (p.Glu401Gln) c.*1116G>C (n.*1116G>C) c.*732G>C (n.*732G>C) c.1135G>C (p.Glu379Gln) c.1072G>C (p.Glu358Gln) c.1141G>C (p.Glu381Gln) | |
1 | g.6473066C>T | CA338134244 | PLEKHG5 | c.904G>A (p.Glu302Lys) c.1078G>A (p.Glu360Lys) c.1015G>A (p.Glu339Lys) n.1380G>A c.1111G>A (p.Glu371Lys) c.1201G>A (p.Glu401Lys) c.*1116G>A (n.*1116G>A) c.*732G>A (n.*732G>A) c.1135G>A (p.Glu379Lys) c.1072G>A (p.Glu358Lys) c.1141G>A (p.Glu381Lys) | dbSNP |
1 | g.6473067C>A | CA338134250 | PLEKHG5 | c.903G>T (p.Glu301Asp) c.1077G>T (p.Glu359Asp) c.1014G>T (p.Glu338Asp) n.1379G>T c.1110G>T (p.Glu370Asp) c.1200G>T (p.Glu400Asp) c.*1115G>T (n.*1115G>T) c.*731G>T (n.*731G>T) c.1134G>T (p.Glu378Asp) c.1071G>T (p.Glu357Asp) c.1140G>T (p.Glu380Asp) | |
1 | g.6473067C= | CA1151502967 | PLEKHG5 | c.903G= (p.Glu301=) c.1077G= (p.Glu359=) c.1014G= (p.Glu338=) n.1379G= c.1110G= (p.Glu370=) c.1200G= (p.Glu400=) c.*1115G= (n.*1115G=) c.*731G= (n.*731G=) c.1134G= (p.Glu378=) c.1071G= (p.Glu357=) c.1140G= (p.Glu380=) | |
1 | g.6473067C>G | CA338134253 | PLEKHG5 | c.903G>C (p.Glu301Asp) c.1077G>C (p.Glu359Asp) c.1014G>C (p.Glu338Asp) n.1379G>C c.1110G>C (p.Glu370Asp) c.1200G>C (p.Glu400Asp) c.*1115G>C (n.*1115G>C) c.*731G>C (n.*731G>C) c.1134G>C (p.Glu378Asp) c.1071G>C (p.Glu357Asp) c.1140G>C (p.Glu380Asp) | |
1 | g.6473067C>T | CA561715 | PLEKHG5 | c.903G>A (p.Glu301=) c.1077G>A (p.Glu359=) c.1014G>A (p.Glu338=) n.1379G>A c.1110G>A (p.Glu370=) c.1200G>A (p.Glu400=) c.*1115G>A (n.*1115G>A) c.*731G>A (n.*731G>A) c.1134G>A (p.Glu378=) c.1071G>A (p.Glu357=) c.1140G>A (p.Glu380=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6473068T>A | CA338134265 | PLEKHG5 | c.902A>T (p.Glu301Val) c.1076A>T (p.Glu359Val) c.1013A>T (p.Glu338Val) n.1378A>T c.1109A>T (p.Glu370Val) c.1199A>T (p.Glu400Val) c.*1114A>T (n.*1114A>T) c.*730A>T (n.*730A>T) c.1133A>T (p.Glu378Val) c.1070A>T (p.Glu357Val) c.1139A>T (p.Glu380Val) | |
1 | g.6473068T>C | CA338134273 | PLEKHG5 | c.902A>G (p.Glu301Gly) c.1076A>G (p.Glu359Gly) c.1013A>G (p.Glu338Gly) n.1378A>G c.1109A>G (p.Glu370Gly) c.1199A>G (p.Glu400Gly) c.*1114A>G (n.*1114A>G) c.*730A>G (n.*730A>G) c.1133A>G (p.Glu378Gly) c.1070A>G (p.Glu357Gly) c.1139A>G (p.Glu380Gly) | |
1 | g.6473068T>G | CA338134281 | PLEKHG5 | c.902A>C (p.Glu301Ala) c.1076A>C (p.Glu359Ala) c.1013A>C (p.Glu338Ala) n.1378A>C c.1109A>C (p.Glu370Ala) c.1199A>C (p.Glu400Ala) c.*1114A>C (n.*1114A>C) c.*730A>C (n.*730A>C) c.1133A>C (p.Glu378Ala) c.1070A>C (p.Glu357Ala) c.1139A>C (p.Glu380Ala) | |
1 | g.6473069C>A | CA338134287 | PLEKHG5 | c.901G>T (p.Glu301Ter) c.1075G>T (p.Glu359Ter) c.1012G>T (p.Glu338Ter) n.1377G>T c.1108G>T (p.Glu370Ter) c.1198G>T (p.Glu400Ter) c.*1113G>T (n.*1113G>T) c.*729G>T (n.*729G>T) c.1132G>T (p.Glu378Ter) c.1069G>T (p.Glu357Ter) c.1138G>T (p.Glu380Ter) | |
1 | g.6473069C>G | CA338134288 | PLEKHG5 | c.901G>C (p.Glu301Gln) c.1075G>C (p.Glu359Gln) c.1012G>C (p.Glu338Gln) n.1377G>C c.1108G>C (p.Glu370Gln) c.1198G>C (p.Glu400Gln) c.*1113G>C (n.*1113G>C) c.*729G>C (n.*729G>C) c.1132G>C (p.Glu378Gln) c.1069G>C (p.Glu357Gln) c.1138G>C (p.Glu380Gln) | |
1 | g.6473069C>T | CA338134286 | PLEKHG5 | c.901G>A (p.Glu301Lys) c.1075G>A (p.Glu359Lys) c.1012G>A (p.Glu338Lys) n.1377G>A c.1108G>A (p.Glu370Lys) c.1198G>A (p.Glu400Lys) c.*1113G>A (n.*1113G>A) c.*729G>A (n.*729G>A) c.1132G>A (p.Glu378Lys) c.1069G>A (p.Glu357Lys) c.1138G>A (p.Glu380Lys) | |
1 | g.6473070C>A | CA338134294 | PLEKHG5 | c.900G>T (p.Glu300Asp) c.1074G>T (p.Glu358Asp) c.1011G>T (p.Glu337Asp) n.1376G>T c.1107G>T (p.Glu369Asp) c.1197G>T (p.Glu399Asp) c.*1112G>T (n.*1112G>T) c.*728G>T (n.*728G>T) c.1131G>T (p.Glu377Asp) c.1068G>T (p.Glu356Asp) c.1137G>T (p.Glu379Asp) | |
1 | g.6473070C>G | CA338134289 | PLEKHG5 | c.900G>C (p.Glu300Asp) c.1074G>C (p.Glu358Asp) c.1011G>C (p.Glu337Asp) n.1376G>C c.1107G>C (p.Glu369Asp) c.1197G>C (p.Glu399Asp) c.*1112G>C (n.*1112G>C) c.*728G>C (n.*728G>C) c.1131G>C (p.Glu377Asp) c.1068G>C (p.Glu356Asp) c.1137G>C (p.Glu379Asp) | |
1 | g.6473070C>T | CA415833467 | PLEKHG5 | c.900G>A (p.Glu300=) c.1074G>A (p.Glu358=) c.1011G>A (p.Glu337=) n.1376G>A c.1107G>A (p.Glu369=) c.1197G>A (p.Glu399=) c.*1112G>A (n.*1112G>A) c.*728G>A (n.*728G>A) c.1131G>A (p.Glu377=) c.1068G>A (p.Glu356=) c.1137G>A (p.Glu379=) | gnomAD v4 |
1 | g.6473071T>A | CA338134301 | PLEKHG5 | c.899A>T (p.Glu300Val) c.1073A>T (p.Glu358Val) c.1010A>T (p.Glu337Val) n.1375A>T c.1106A>T (p.Glu369Val) c.1196A>T (p.Glu399Val) c.*1111A>T (n.*1111A>T) c.*727A>T (n.*727A>T) c.1130A>T (p.Glu377Val) c.1067A>T (p.Glu356Val) c.1136A>T (p.Glu379Val) | |
1 | g.6473071T>C | CA338134310 | PLEKHG5 | c.899A>G (p.Glu300Gly) c.1073A>G (p.Glu358Gly) c.1010A>G (p.Glu337Gly) n.1375A>G c.1106A>G (p.Glu369Gly) c.1196A>G (p.Glu399Gly) c.*1111A>G (n.*1111A>G) c.*727A>G (n.*727A>G) c.1130A>G (p.Glu377Gly) c.1067A>G (p.Glu356Gly) c.1136A>G (p.Glu379Gly) | |
1 | g.6473071T>G | CA338134315 | PLEKHG5 | c.899A>C (p.Glu300Ala) c.1073A>C (p.Glu358Ala) c.1010A>C (p.Glu337Ala) n.1375A>C c.1106A>C (p.Glu369Ala) c.1196A>C (p.Glu399Ala) c.*1111A>C (n.*1111A>C) c.*727A>C (n.*727A>C) c.1130A>C (p.Glu377Ala) c.1067A>C (p.Glu356Ala) c.1136A>C (p.Glu379Ala) | |
1 | g.6473072C>A | CA338134354 | PLEKHG5 | c.898G>T (p.Glu300Ter) c.1072G>T (p.Glu358Ter) c.1009G>T (p.Glu337Ter) n.1374G>T c.1105G>T (p.Glu369Ter) c.1195G>T (p.Glu399Ter) c.*1110G>T (n.*1110G>T) c.*726G>T (n.*726G>T) c.1129G>T (p.Glu377Ter) c.1066G>T (p.Glu356Ter) c.1135G>T (p.Glu379Ter) | |
1 | g.6473072C>G | CA338134357 | PLEKHG5 | c.898G>C (p.Glu300Gln) c.1072G>C (p.Glu358Gln) c.1009G>C (p.Glu337Gln) n.1374G>C c.1105G>C (p.Glu369Gln) c.1195G>C (p.Glu399Gln) c.*1110G>C (n.*1110G>C) c.*726G>C (n.*726G>C) c.1129G>C (p.Glu377Gln) c.1066G>C (p.Glu356Gln) c.1135G>C (p.Glu379Gln) | |
1 | g.6473072C>T | CA338134359 | PLEKHG5 | c.898G>A (p.Glu300Lys) c.1072G>A (p.Glu358Lys) c.1009G>A (p.Glu337Lys) n.1374G>A c.1105G>A (p.Glu369Lys) c.1195G>A (p.Glu399Lys) c.*1110G>A (n.*1110G>A) c.*726G>A (n.*726G>A) c.1129G>A (p.Glu377Lys) c.1066G>A (p.Glu356Lys) c.1135G>A (p.Glu379Lys) | |
1 | g.6473073C>A | CA338134364 | PLEKHG5 | c.897G>T (p.Trp299Cys) c.1071G>T (p.Trp357Cys) c.1008G>T (p.Trp336Cys) n.1373G>T c.1104G>T (p.Trp368Cys) c.1194G>T (p.Trp398Cys) c.*1109G>T (n.*1109G>T) c.*725G>T (n.*725G>T) c.1128G>T (p.Trp376Cys) c.1065G>T (p.Trp355Cys) c.1134G>T (p.Trp378Cys) | |
1 | g.6473073C>G | CA338134367 | PLEKHG5 | c.897G>C (p.Trp299Cys) c.1071G>C (p.Trp357Cys) c.1008G>C (p.Trp336Cys) n.1373G>C c.1104G>C (p.Trp368Cys) c.1194G>C (p.Trp398Cys) c.*1109G>C (n.*1109G>C) c.*725G>C (n.*725G>C) c.1128G>C (p.Trp376Cys) c.1065G>C (p.Trp355Cys) c.1134G>C (p.Trp378Cys) | |
1 | g.6473073C>T | CA338134368 | PLEKHG5 | c.897G>A (p.Trp299Ter) c.1071G>A (p.Trp357Ter) c.1008G>A (p.Trp336Ter) n.1373G>A c.1104G>A (p.Trp368Ter) c.1194G>A (p.Trp398Ter) c.*1109G>A (n.*1109G>A) c.*725G>A (n.*725G>A) c.1128G>A (p.Trp376Ter) c.1065G>A (p.Trp355Ter) c.1134G>A (p.Trp378Ter) | gnomAD v4 |
1 | g.6473074C>A | CA338134369 | PLEKHG5 | c.896G>T (p.Trp299Leu) c.1070G>T (p.Trp357Leu) c.1007G>T (p.Trp336Leu) n.1372G>T c.1103G>T (p.Trp368Leu) c.1193G>T (p.Trp398Leu) c.*1108G>T (n.*1108G>T) c.*724G>T (n.*724G>T) c.1127G>T (p.Trp376Leu) c.1064G>T (p.Trp355Leu) c.1133G>T (p.Trp378Leu) | |
1 | g.6473074C>G | CA338134371 | PLEKHG5 | c.896G>C (p.Trp299Ser) c.1070G>C (p.Trp357Ser) c.1007G>C (p.Trp336Ser) n.1372G>C c.1103G>C (p.Trp368Ser) c.1193G>C (p.Trp398Ser) c.*1108G>C (n.*1108G>C) c.*724G>C (n.*724G>C) c.1127G>C (p.Trp376Ser) c.1064G>C (p.Trp355Ser) c.1133G>C (p.Trp378Ser) | |
1 | g.6473074C>T | CA338134376 | PLEKHG5 | c.896G>A (p.Trp299Ter) c.1070G>A (p.Trp357Ter) c.1007G>A (p.Trp336Ter) n.1372G>A c.1103G>A (p.Trp368Ter) c.1193G>A (p.Trp398Ter) c.*1108G>A (n.*1108G>A) c.*724G>A (n.*724G>A) c.1127G>A (p.Trp376Ter) c.1064G>A (p.Trp355Ter) c.1133G>A (p.Trp378Ter) | |
1 | g.6473075del | CA2642983059 | PLEKHG5 | c.895del (p.Trp299GlyfsTer16) c.1069del (p.Trp357GlyfsTer16) c.1006del (p.Trp336GlyfsTer16) n.1371del c.1102del (p.Trp368GlyfsTer16) c.1192del (p.Trp398GlyfsTer16) c.*1107del (n.*1107del) c.*723del (n.*723del) c.1126del (p.Trp376GlyfsTer16) c.1063del (p.Trp355GlyfsTer16) c.1132del (p.Trp378GlyfsTer16) | gnomAD v4 |
1 | g.6473075A= | CA1141284521 | PLEKHG5 | c.895T= (p.Trp299=) c.1069T= (p.Trp357=) c.1006T= (p.Trp336=) n.1371T= c.1102T= (p.Trp368=) c.1192T= (p.Trp398=) c.*1107T= (n.*1107T=) c.*723T= (n.*723T=) c.1126T= (p.Trp376=) c.1063T= (p.Trp355=) c.1132T= (p.Trp378=) | |
1 | g.6473075A>C | CA561716 | PLEKHG5 | c.895T>G (p.Trp299Gly) c.1069T>G (p.Trp357Gly) c.1006T>G (p.Trp336Gly) n.1371T>G c.1102T>G (p.Trp368Gly) c.1192T>G (p.Trp398Gly) c.*1107T>G (n.*1107T>G) c.*723T>G (n.*723T>G) c.1126T>G (p.Trp376Gly) c.1063T>G (p.Trp355Gly) c.1132T>G (p.Trp378Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6473075A>G | CA338134382 | PLEKHG5 | c.895T>C (p.Trp299Arg) c.1069T>C (p.Trp357Arg) c.1006T>C (p.Trp336Arg) n.1371T>C c.1102T>C (p.Trp368Arg) c.1192T>C (p.Trp398Arg) c.*1107T>C (n.*1107T>C) c.*723T>C (n.*723T>C) c.1126T>C (p.Trp376Arg) c.1063T>C (p.Trp355Arg) c.1132T>C (p.Trp378Arg) | |
1 | g.6473075A>T | CA338134380 | PLEKHG5 | c.895T>A (p.Trp299Arg) c.1069T>A (p.Trp357Arg) c.1006T>A (p.Trp336Arg) n.1371T>A c.1102T>A (p.Trp368Arg) c.1192T>A (p.Trp398Arg) c.*1107T>A (n.*1107T>A) c.*723T>A (n.*723T>A) c.1126T>A (p.Trp376Arg) c.1063T>A (p.Trp355Arg) c.1132T>A (p.Trp378Arg) | |
1 | g.6473076G>A | CA415833476 | PLEKHG5 | c.894C>T (p.Ser298=) c.1068C>T (p.Ser356=) c.1005C>T (p.Ser335=) n.1370C>T c.1101C>T (p.Ser367=) c.1191C>T (p.Ser397=) c.*1106C>T (n.*1106C>T) c.*722C>T (n.*722C>T) c.1125C>T (p.Ser375=) c.1062C>T (p.Ser354=) c.1131C>T (p.Ser377=) | gnomAD v4 |
1 | g.6473076G>C | CA415833475 | PLEKHG5 | c.894C>G (p.Ser298=) c.1068C>G (p.Ser356=) c.1005C>G (p.Ser335=) n.1370C>G c.1101C>G (p.Ser367=) c.1191C>G (p.Ser397=) c.*1106C>G (n.*1106C>G) c.*722C>G (n.*722C>G) c.1125C>G (p.Ser375=) c.1062C>G (p.Ser354=) c.1131C>G (p.Ser377=) | |
1 | g.6473076G>T | CA415833474 | PLEKHG5 | c.894C>A (p.Ser298=) c.1068C>A (p.Ser356=) c.1005C>A (p.Ser335=) n.1370C>A c.1101C>A (p.Ser367=) c.1191C>A (p.Ser397=) c.*1106C>A (n.*1106C>A) c.*722C>A (n.*722C>A) c.1125C>A (p.Ser375=) c.1062C>A (p.Ser354=) c.1131C>A (p.Ser377=) | |
1 | g.6473077G>A | CA338134390 | PLEKHG5 | c.893C>T (p.Ser298Phe) c.1067C>T (p.Ser356Phe) c.1004C>T (p.Ser335Phe) n.1369C>T c.1100C>T (p.Ser367Phe) c.1190C>T (p.Ser397Phe) c.*1105C>T (n.*1105C>T) c.*721C>T (n.*721C>T) c.1124C>T (p.Ser375Phe) c.1061C>T (p.Ser354Phe) c.1130C>T (p.Ser377Phe) | ClinVar dbSNP gnomAD v2 |
1 | g.6473077G>C | CA338134393 | PLEKHG5 | c.893C>G (p.Ser298Cys) c.1067C>G (p.Ser356Cys) c.1004C>G (p.Ser335Cys) n.1369C>G c.1100C>G (p.Ser367Cys) c.1190C>G (p.Ser397Cys) c.*1105C>G (n.*1105C>G) c.*721C>G (n.*721C>G) c.1124C>G (p.Ser375Cys) c.1061C>G (p.Ser354Cys) c.1130C>G (p.Ser377Cys) | |
1 | g.6473077G= | CA1151502981 | PLEKHG5 | c.893C= (p.Ser298=) c.1067C= (p.Ser356=) c.1004C= (p.Ser335=) n.1369C= c.1100C= (p.Ser367=) c.1190C= (p.Ser397=) c.*1105C= (n.*1105C=) c.*721C= (n.*721C=) c.1124C= (p.Ser375=) c.1061C= (p.Ser354=) c.1130C= (p.Ser377=) | |
1 | g.6473077G>T | CA338134398 | PLEKHG5 | c.893C>A (p.Ser298Tyr) c.1067C>A (p.Ser356Tyr) c.1004C>A (p.Ser335Tyr) n.1369C>A c.1100C>A (p.Ser367Tyr) c.1190C>A (p.Ser397Tyr) c.*1105C>A (n.*1105C>A) c.*721C>A (n.*721C>A) c.1124C>A (p.Ser375Tyr) c.1061C>A (p.Ser354Tyr) c.1130C>A (p.Ser377Tyr) | |
1 | g.6473078A= | CA1151502984 | PLEKHG5 | c.892T= (p.Ser298=) c.1066T= (p.Ser356=) c.1003T= (p.Ser335=) n.1368T= c.1099T= (p.Ser367=) c.1189T= (p.Ser397=) c.*1104T= (n.*1104T=) c.*720T= (n.*720T=) c.1123T= (p.Ser375=) c.1060T= (p.Ser354=) c.1129T= (p.Ser377=) | |
1 | g.6473078A>C | CA338134403 | PLEKHG5 | c.892T>G (p.Ser298Ala) c.1066T>G (p.Ser356Ala) c.1003T>G (p.Ser335Ala) n.1368T>G c.1099T>G (p.Ser367Ala) c.1189T>G (p.Ser397Ala) c.*1104T>G (n.*1104T>G) c.*720T>G (n.*720T>G) c.1123T>G (p.Ser375Ala) c.1060T>G (p.Ser354Ala) c.1129T>G (p.Ser377Ala) | |
1 | g.6473078A>G | CA338134414 | PLEKHG5 | c.892T>C (p.Ser298Pro) c.1066T>C (p.Ser356Pro) c.1003T>C (p.Ser335Pro) n.1368T>C c.1099T>C (p.Ser367Pro) c.1189T>C (p.Ser397Pro) c.*1104T>C (n.*1104T>C) c.*720T>C (n.*720T>C) c.1123T>C (p.Ser375Pro) c.1060T>C (p.Ser354Pro) c.1129T>C (p.Ser377Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6473078A>T | CA338134425 | PLEKHG5 | c.892T>A (p.Ser298Thr) c.1066T>A (p.Ser356Thr) c.1003T>A (p.Ser335Thr) n.1368T>A c.1099T>A (p.Ser367Thr) c.1189T>A (p.Ser397Thr) c.*1104T>A (n.*1104T>A) c.*720T>A (n.*720T>A) c.1123T>A (p.Ser375Thr) c.1060T>A (p.Ser354Thr) c.1129T>A (p.Ser377Thr) | |
1 | g.6473079G>A | CA415833477 | PLEKHG5 | c.891C>T (p.Asp297=) c.1065C>T (p.Asp355=) c.1002C>T (p.Asp334=) n.1367C>T c.1098C>T (p.Asp366=) c.1188C>T (p.Asp396=) c.*1103C>T (n.*1103C>T) c.*719C>T (n.*719C>T) c.1122C>T (p.Asp374=) c.1059C>T (p.Asp353=) c.1128C>T (p.Asp376=) | |
1 | g.6473079G>C | CA338134429 | PLEKHG5 | c.891C>G (p.Asp297Glu) c.1065C>G (p.Asp355Glu) c.1002C>G (p.Asp334Glu) n.1367C>G c.1098C>G (p.Asp366Glu) c.1188C>G (p.Asp396Glu) c.*1103C>G (n.*1103C>G) c.*719C>G (n.*719C>G) c.1122C>G (p.Asp374Glu) c.1059C>G (p.Asp353Glu) c.1128C>G (p.Asp376Glu) | |
1 | g.6473079G>T | CA338134435 | PLEKHG5 | c.891C>A (p.Asp297Glu) c.1065C>A (p.Asp355Glu) c.1002C>A (p.Asp334Glu) n.1367C>A c.1098C>A (p.Asp366Glu) c.1188C>A (p.Asp396Glu) c.*1103C>A (n.*1103C>A) c.*719C>A (n.*719C>A) c.1122C>A (p.Asp374Glu) c.1059C>A (p.Asp353Glu) c.1128C>A (p.Asp376Glu) | |
1 | g.6473080T>A | CA338134439 | PLEKHG5 | c.890A>T (p.Asp297Val) c.1064A>T (p.Asp355Val) c.1001A>T (p.Asp334Val) n.1366A>T c.1097A>T (p.Asp366Val) c.1187A>T (p.Asp396Val) c.*1102A>T (n.*1102A>T) c.*718A>T (n.*718A>T) c.1121A>T (p.Asp374Val) c.1058A>T (p.Asp353Val) c.1127A>T (p.Asp376Val) | |
1 | g.6473080T>C | CA561717 | PLEKHG5 | c.890A>G (p.Asp297Gly) c.1064A>G (p.Asp355Gly) c.1001A>G (p.Asp334Gly) n.1366A>G c.1097A>G (p.Asp366Gly) c.1187A>G (p.Asp396Gly) c.*1102A>G (n.*1102A>G) c.*718A>G (n.*718A>G) c.1121A>G (p.Asp374Gly) c.1058A>G (p.Asp353Gly) c.1127A>G (p.Asp376Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6473080T>G | CA338134453 | PLEKHG5 | c.890A>C (p.Asp297Ala) c.1064A>C (p.Asp355Ala) c.1001A>C (p.Asp334Ala) n.1366A>C c.1097A>C (p.Asp366Ala) c.1187A>C (p.Asp396Ala) c.*1102A>C (n.*1102A>C) c.*718A>C (n.*718A>C) c.1121A>C (p.Asp374Ala) c.1058A>C (p.Asp353Ala) c.1127A>C (p.Asp376Ala) | |
1 | g.6473080T= | CA1151502990 | PLEKHG5 | c.890A= (p.Asp297=) c.1064A= (p.Asp355=) c.1001A= (p.Asp334=) n.1366A= c.1097A= (p.Asp366=) c.1187A= (p.Asp396=) c.*1102A= (n.*1102A=) c.*718A= (n.*718A=) c.1121A= (p.Asp374=) c.1058A= (p.Asp353=) c.1127A= (p.Asp376=) | |
1 | g.6473081C>A | CA338134459 | PLEKHG5 | c.889G>T (p.Asp297Tyr) c.1063G>T (p.Asp355Tyr) c.1000G>T (p.Asp334Tyr) n.1365G>T c.1096G>T (p.Asp366Tyr) c.1186G>T (p.Asp396Tyr) c.*1101G>T (n.*1101G>T) c.*717G>T (n.*717G>T) c.1120G>T (p.Asp374Tyr) c.1057G>T (p.Asp353Tyr) c.1126G>T (p.Asp376Tyr) | |
1 | g.6473081C= | CA1151502993 | PLEKHG5 | c.889G= (p.Asp297=) c.1063G= (p.Asp355=) c.1000G= (p.Asp334=) n.1365G= c.1096G= (p.Asp366=) c.1186G= (p.Asp396=) c.*1101G= (n.*1101G=) c.*717G= (n.*717G=) c.1120G= (p.Asp374=) c.1057G= (p.Asp353=) c.1126G= (p.Asp376=) | |
1 | g.6473081C>G | CA338134462 | PLEKHG5 | c.889G>C (p.Asp297His) c.1063G>C (p.Asp355His) c.1000G>C (p.Asp334His) n.1365G>C c.1096G>C (p.Asp366His) c.1186G>C (p.Asp396His) c.*1101G>C (n.*1101G>C) c.*717G>C (n.*717G>C) c.1120G>C (p.Asp374His) c.1057G>C (p.Asp353His) c.1126G>C (p.Asp376His) | |
1 | g.6473081C>T | CA338134457 | PLEKHG5 | c.889G>A (p.Asp297Asn) c.1063G>A (p.Asp355Asn) c.1000G>A (p.Asp334Asn) n.1365G>A c.1096G>A (p.Asp366Asn) c.1186G>A (p.Asp396Asn) c.*1101G>A (n.*1101G>A) c.*717G>A (n.*717G>A) c.1120G>A (p.Asp374Asn) c.1057G>A (p.Asp353Asn) c.1126G>A (p.Asp376Asn) | ClinVar dbSNP |
1 | g.6473082A>C | CA338134469 | PLEKHG5 | c.888T>G (p.His296Gln) c.1062T>G (p.His354Gln) c.999T>G (p.His333Gln) n.1364T>G c.1095T>G (p.His365Gln) c.1185T>G (p.His395Gln) c.*1100T>G (n.*1100T>G) c.*716T>G (n.*716T>G) c.1119T>G (p.His373Gln) c.1056T>G (p.His352Gln) c.1125T>G (p.His375Gln) | |
1 | g.6473082A>G | CA415833480 | PLEKHG5 | c.888T>C (p.His296=) c.1062T>C (p.His354=) c.999T>C (p.His333=) n.1364T>C c.1095T>C (p.His365=) c.1185T>C (p.His395=) c.*1100T>C (n.*1100T>C) c.*716T>C (n.*716T>C) c.1119T>C (p.His373=) c.1056T>C (p.His352=) c.1125T>C (p.His375=) | |
1 | g.6473082A>T | CA338134474 | PLEKHG5 | c.888T>A (p.His296Gln) c.1062T>A (p.His354Gln) c.999T>A (p.His333Gln) n.1364T>A c.1095T>A (p.His365Gln) c.1185T>A (p.His395Gln) c.*1100T>A (n.*1100T>A) c.*716T>A (n.*716T>A) c.1119T>A (p.His373Gln) c.1056T>A (p.His352Gln) c.1125T>A (p.His375Gln) | |
1 | g.6473083T>A | CA338134476 | PLEKHG5 | c.887A>T (p.His296Leu) c.1061A>T (p.His354Leu) c.998A>T (p.His333Leu) n.1363A>T c.1094A>T (p.His365Leu) c.1184A>T (p.His395Leu) c.*1099A>T (n.*1099A>T) c.*715A>T (n.*715A>T) c.1118A>T (p.His373Leu) c.1055A>T (p.His352Leu) c.1124A>T (p.His375Leu) | |
1 | g.6473083T>C | CA338134477 | PLEKHG5 | c.887A>G (p.His296Arg) c.1061A>G (p.His354Arg) c.998A>G (p.His333Arg) n.1363A>G c.1094A>G (p.His365Arg) c.1184A>G (p.His395Arg) c.*1099A>G (n.*1099A>G) c.*715A>G (n.*715A>G) c.1118A>G (p.His373Arg) c.1055A>G (p.His352Arg) c.1124A>G (p.His375Arg) | gnomAD v4 |
1 | g.6473083T>G | CA338134479 | PLEKHG5 | c.887A>C (p.His296Pro) c.1061A>C (p.His354Pro) c.998A>C (p.His333Pro) n.1363A>C c.1094A>C (p.His365Pro) c.1184A>C (p.His395Pro) c.*1099A>C (n.*1099A>C) c.*715A>C (n.*715A>C) c.1118A>C (p.His373Pro) c.1055A>C (p.His352Pro) c.1124A>C (p.His375Pro) | |
1 | g.6473084G>A | CA338134481 | PLEKHG5 | c.886C>T (p.His296Tyr) c.1060C>T (p.His354Tyr) c.997C>T (p.His333Tyr) n.1362C>T c.1093C>T (p.His365Tyr) c.1183C>T (p.His395Tyr) c.*1098C>T (n.*1098C>T) c.*714C>T (n.*714C>T) c.1117C>T (p.His373Tyr) c.1054C>T (p.His352Tyr) c.1123C>T (p.His375Tyr) | |
1 | g.6473084G>C | CA338134482 | PLEKHG5 | c.886C>G (p.His296Asp) c.1060C>G (p.His354Asp) c.997C>G (p.His333Asp) n.1362C>G c.1093C>G (p.His365Asp) c.1183C>G (p.His395Asp) c.*1098C>G (n.*1098C>G) c.*714C>G (n.*714C>G) c.1117C>G (p.His373Asp) c.1054C>G (p.His352Asp) c.1123C>G (p.His375Asp) | |
1 | g.6473084G>T | CA338134494 | PLEKHG5 | c.886C>A (p.His296Asn) c.1060C>A (p.His354Asn) c.997C>A (p.His333Asn) n.1362C>A c.1093C>A (p.His365Asn) c.1183C>A (p.His395Asn) c.*1098C>A (n.*1098C>A) c.*714C>A (n.*714C>A) c.1117C>A (p.His373Asn) c.1054C>A (p.His352Asn) c.1123C>A (p.His375Asn) | gnomAD v4 |
1 | g.6473085G>A | CA415833481 | PLEKHG5 | c.885C>T (p.Asp295=) c.1059C>T (p.Asp353=) c.996C>T (p.Asp332=) n.1361C>T c.1092C>T (p.Asp364=) c.1182C>T (p.Asp394=) c.*1097C>T (n.*1097C>T) c.*713C>T (n.*713C>T) c.1116C>T (p.Asp372=) c.1053C>T (p.Asp351=) c.1122C>T (p.Asp374=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6473085G>C | CA338134497 | PLEKHG5 | c.885C>G (p.Asp295Glu) c.1059C>G (p.Asp353Glu) c.996C>G (p.Asp332Glu) n.1361C>G c.1092C>G (p.Asp364Glu) c.1182C>G (p.Asp394Glu) c.*1097C>G (n.*1097C>G) c.*713C>G (n.*713C>G) c.1116C>G (p.Asp372Glu) c.1053C>G (p.Asp351Glu) c.1122C>G (p.Asp374Glu) | |
1 | g.6473085G= | CA1151503038 | PLEKHG5 | c.885C= (p.Asp295=) c.1059C= (p.Asp353=) c.996C= (p.Asp332=) n.1361C= c.1092C= (p.Asp364=) c.1182C= (p.Asp394=) c.*1097C= (n.*1097C=) c.*713C= (n.*713C=) c.1116C= (p.Asp372=) c.1053C= (p.Asp351=) c.1122C= (p.Asp374=) | |
1 | g.6473085G>T | CA338134499 | PLEKHG5 | c.885C>A (p.Asp295Glu) c.1059C>A (p.Asp353Glu) c.996C>A (p.Asp332Glu) n.1361C>A c.1092C>A (p.Asp364Glu) c.1182C>A (p.Asp394Glu) c.*1097C>A (n.*1097C>A) c.*713C>A (n.*713C>A) c.1116C>A (p.Asp372Glu) c.1053C>A (p.Asp351Glu) c.1122C>A (p.Asp374Glu) | gnomAD v4 |
1 | g.6473086T>A | CA338134503 | PLEKHG5 | c.884A>T (p.Asp295Val) c.1058A>T (p.Asp353Val) c.995A>T (p.Asp332Val) n.1360A>T c.1091A>T (p.Asp364Val) c.1181A>T (p.Asp394Val) c.*1096A>T (n.*1096A>T) c.*712A>T (n.*712A>T) c.1115A>T (p.Asp372Val) c.1052A>T (p.Asp351Val) c.1121A>T (p.Asp374Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.6473086T>C | CA338134505 | PLEKHG5 | c.884A>G (p.Asp295Gly) c.1058A>G (p.Asp353Gly) c.995A>G (p.Asp332Gly) n.1360A>G c.1091A>G (p.Asp364Gly) c.1181A>G (p.Asp394Gly) c.*1096A>G (n.*1096A>G) c.*712A>G (n.*712A>G) c.1115A>G (p.Asp372Gly) c.1052A>G (p.Asp351Gly) c.1121A>G (p.Asp374Gly) | gnomAD v4 |
1 | g.6473086T>G | CA338134508 | PLEKHG5 | c.884A>C (p.Asp295Ala) c.1058A>C (p.Asp353Ala) c.995A>C (p.Asp332Ala) n.1360A>C c.1091A>C (p.Asp364Ala) c.1181A>C (p.Asp394Ala) c.*1096A>C (n.*1096A>C) c.*712A>C (n.*712A>C) c.1115A>C (p.Asp372Ala) c.1052A>C (p.Asp351Ala) c.1121A>C (p.Asp374Ala) | |
1 | g.6473086T= | CA1151503054 | PLEKHG5 | c.884A= (p.Asp295=) c.1058A= (p.Asp353=) c.995A= (p.Asp332=) n.1360A= c.1091A= (p.Asp364=) c.1181A= (p.Asp394=) c.*1096A= (n.*1096A=) c.*712A= (n.*712A=) c.1115A= (p.Asp372=) c.1052A= (p.Asp351=) c.1121A= (p.Asp374=) | |
1 | g.6473087C>A | CA338134519 | PLEKHG5 | c.883G>T (p.Asp295Tyr) c.1057G>T (p.Asp353Tyr) c.994G>T (p.Asp332Tyr) n.1359G>T c.1090G>T (p.Asp364Tyr) c.1180G>T (p.Asp394Tyr) c.*1095G>T (n.*1095G>T) c.*711G>T (n.*711G>T) c.1114G>T (p.Asp372Tyr) c.1051G>T (p.Asp351Tyr) c.1120G>T (p.Asp374Tyr) | gnomAD v4 |
1 | g.6473087C= | CA1151503060 | PLEKHG5 | c.883G= (p.Asp295=) c.1057G= (p.Asp353=) c.994G= (p.Asp332=) n.1359G= c.1090G= (p.Asp364=) c.1180G= (p.Asp394=) c.*1095G= (n.*1095G=) c.*711G= (n.*711G=) c.1114G= (p.Asp372=) c.1051G= (p.Asp351=) c.1120G= (p.Asp374=) | |
1 | g.6473087C>G | CA561718 | PLEKHG5 | c.883G>C (p.Asp295His) c.1057G>C (p.Asp353His) c.994G>C (p.Asp332His) n.1359G>C c.1090G>C (p.Asp364His) c.1180G>C (p.Asp394His) c.*1095G>C (n.*1095G>C) c.*711G>C (n.*711G>C) c.1114G>C (p.Asp372His) c.1051G>C (p.Asp351His) c.1120G>C (p.Asp374His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6473087C>T | CA338134512 | PLEKHG5 | c.883G>A (p.Asp295Asn) c.1057G>A (p.Asp353Asn) c.994G>A (p.Asp332Asn) n.1359G>A c.1090G>A (p.Asp364Asn) c.1180G>A (p.Asp394Asn) c.*1095G>A (n.*1095G>A) c.*711G>A (n.*711G>A) c.1114G>A (p.Asp372Asn) c.1051G>A (p.Asp351Asn) c.1120G>A (p.Asp374Asn) | dbSNP gnomAD v4 |
1 | g.6473088G>A | CA561719 | PLEKHG5 | c.882C>T (p.Phe294=) c.1056C>T (p.Phe352=) c.993C>T (p.Phe331=) n.1358C>T c.1089C>T (p.Phe363=) c.1179C>T (p.Phe393=) c.*1094C>T (n.*1094C>T) c.*710C>T (n.*710C>T) c.1113C>T (p.Phe371=) c.1050C>T (p.Phe350=) c.1119C>T (p.Phe373=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6473088G>C | CA338134530 | PLEKHG5 | c.882C>G (p.Phe294Leu) c.1056C>G (p.Phe352Leu) c.993C>G (p.Phe331Leu) n.1358C>G c.1089C>G (p.Phe363Leu) c.1179C>G (p.Phe393Leu) c.*1094C>G (n.*1094C>G) c.*710C>G (n.*710C>G) c.1113C>G (p.Phe371Leu) c.1050C>G (p.Phe350Leu) c.1119C>G (p.Phe373Leu) | gnomAD v4 |
1 | g.6473088G= | CA1143738261 | PLEKHG5 | c.882C= (p.Phe294=) c.1056C= (p.Phe352=) c.993C= (p.Phe331=) n.1358C= c.1089C= (p.Phe363=) c.1179C= (p.Phe393=) c.*1094C= (n.*1094C=) c.*710C= (n.*710C=) c.1113C= (p.Phe371=) c.1050C= (p.Phe350=) c.1119C= (p.Phe373=) | |
1 | g.6473088G>T | CA338134532 | PLEKHG5 | c.882C>A (p.Phe294Leu) c.1056C>A (p.Phe352Leu) c.993C>A (p.Phe331Leu) n.1358C>A c.1089C>A (p.Phe363Leu) c.1179C>A (p.Phe393Leu) c.*1094C>A (n.*1094C>A) c.*710C>A (n.*710C>A) c.1113C>A (p.Phe371Leu) c.1050C>A (p.Phe350Leu) c.1119C>A (p.Phe373Leu) | |
1 | g.6473089A>C | CA338134535 | PLEKHG5 | c.881T>G (p.Phe294Cys) c.1055T>G (p.Phe352Cys) c.992T>G (p.Phe331Cys) n.1357T>G c.1088T>G (p.Phe363Cys) c.1178T>G (p.Phe393Cys) c.*1093T>G (n.*1093T>G) c.*709T>G (n.*709T>G) c.1112T>G (p.Phe371Cys) c.1049T>G (p.Phe350Cys) c.1118T>G (p.Phe373Cys) | |
1 | g.6473089A>G | CA338134536 | PLEKHG5 | c.881T>C (p.Phe294Ser) c.1055T>C (p.Phe352Ser) c.992T>C (p.Phe331Ser) n.1357T>C c.1088T>C (p.Phe363Ser) c.1178T>C (p.Phe393Ser) c.*1093T>C (n.*1093T>C) c.*709T>C (n.*709T>C) c.1112T>C (p.Phe371Ser) c.1049T>C (p.Phe350Ser) c.1118T>C (p.Phe373Ser) | |
1 | g.6473089A>T | CA338134541 | PLEKHG5 | c.881T>A (p.Phe294Tyr) c.1055T>A (p.Phe352Tyr) c.992T>A (p.Phe331Tyr) n.1357T>A c.1088T>A (p.Phe363Tyr) c.1178T>A (p.Phe393Tyr) c.*1093T>A (n.*1093T>A) c.*709T>A (n.*709T>A) c.1112T>A (p.Phe371Tyr) c.1049T>A (p.Phe350Tyr) c.1118T>A (p.Phe373Tyr) | |
1 | g.6473090A>C | CA338134560 | PLEKHG5 | c.880T>G (p.Phe294Val) c.1054T>G (p.Phe352Val) c.991T>G (p.Phe331Val) n.1356T>G c.1087T>G (p.Phe363Val) c.1177T>G (p.Phe393Val) c.*1092T>G (n.*1092T>G) c.*708T>G (n.*708T>G) c.1111T>G (p.Phe371Val) c.1048T>G (p.Phe350Val) c.1117T>G (p.Phe373Val) | |
1 | g.6473090A>G | CA338134547 | PLEKHG5 | c.880T>C (p.Phe294Leu) c.1054T>C (p.Phe352Leu) c.991T>C (p.Phe331Leu) n.1356T>C c.1087T>C (p.Phe363Leu) c.1177T>C (p.Phe393Leu) c.*1092T>C (n.*1092T>C) c.*708T>C (n.*708T>C) c.1111T>C (p.Phe371Leu) c.1048T>C (p.Phe350Leu) c.1117T>C (p.Phe373Leu) | |
1 | g.6473090A>T | CA338134557 | PLEKHG5 | c.880T>A (p.Phe294Ile) c.1054T>A (p.Phe352Ile) c.991T>A (p.Phe331Ile) n.1356T>A c.1087T>A (p.Phe363Ile) c.1177T>A (p.Phe393Ile) c.*1092T>A (n.*1092T>A) c.*708T>A (n.*708T>A) c.1111T>A (p.Phe371Ile) c.1048T>A (p.Phe350Ile) c.1117T>A (p.Phe373Ile) | |
1 | g.6473090_6473092delinsAGC | CA1151503071 | PLEKHG5 | c.878_880delinsGCT (p.Arg293=) c.1052_1054delinsGCT (p.Arg351=) c.989_991delinsGCT (p.Arg330=) n.1354_1356delinsGCT c.1085_1087delinsGCT (p.Arg362=) c.1175_1177delinsGCT (p.Arg392=) c.*1090_*1092delinsGCT (n.*1090_*1092delinsGCT) c.*706_*708delinsGCT (n.*706_*708delinsGCT) c.1109_1111delinsGCT (p.Arg370=) c.1046_1048delinsGCT (p.Arg349=) c.1115_1117delinsGCT (p.Arg372=) | |
1 | g.6473091G>A | CA415833485 | PLEKHG5 | c.879C>T (p.Arg293=) c.1053C>T (p.Arg351=) c.990C>T (p.Arg330=) n.1355C>T c.1086C>T (p.Arg362=) c.1176C>T (p.Arg392=) c.*1091C>T (n.*1091C>T) c.*707C>T (n.*707C>T) c.1110C>T (p.Arg370=) c.1047C>T (p.Arg349=) c.1116C>T (p.Arg372=) | ClinVar |
1 | g.6473091G>C | CA415833487 | PLEKHG5 | c.879C>G (p.Arg293=) c.1053C>G (p.Arg351=) c.990C>G (p.Arg330=) n.1355C>G c.1086C>G (p.Arg362=) c.1176C>G (p.Arg392=) c.*1091C>G (n.*1091C>G) c.*707C>G (n.*707C>G) c.1110C>G (p.Arg370=) c.1047C>G (p.Arg349=) c.1116C>G (p.Arg372=) | |
1 | g.6473091G>T | CA415833489 | PLEKHG5 | c.879C>A (p.Arg293=) c.1053C>A (p.Arg351=) c.990C>A (p.Arg330=) n.1355C>A c.1086C>A (p.Arg362=) c.1176C>A (p.Arg392=) c.*1091C>A (n.*1091C>A) c.*707C>A (n.*707C>A) c.1110C>A (p.Arg370=) c.1047C>A (p.Arg349=) c.1116C>A (p.Arg372=) | |
1 | g.6473093_6473094del | CA521018846 | PLEKHG5 | c.878_879del (p.Arg293LeufsTer4) c.1052_1053del (p.Arg351LeufsTer4) c.989_990del (p.Arg330LeufsTer4) n.1354_1355del c.1085_1086del (p.Arg362LeufsTer4) c.1175_1176del (p.Arg392LeufsTer4) c.*1090_*1091del (n.*1090_*1091del) c.*706_*707del (n.*706_*707del) c.1109_1110del (p.Arg370LeufsTer4) c.1046_1047del (p.Arg349LeufsTer4) c.1115_1116del (p.Arg372LeufsTer4) | dbSNP gnomAD v2 |
1 | g.6473092_6473112del | CA2642983115 | PLEKHG5 | c.859_879del (p.Arg287_Arg293del) c.1033_1053del (p.Arg345_Arg351del) c.970_990del (p.Arg324_Arg330del) n.1335_1355del c.1066_1086del (p.Arg356_Arg362del) c.1156_1176del (p.Arg386_Arg392del) c.*1071_*1091del (n.*1071_*1091del) c.*687_*707del (n.*687_*707del) c.1090_1110del (p.Arg364_Arg370del) c.1027_1047del (p.Arg343_Arg349del) c.1096_1116del (p.Arg366_Arg372del) | gnomAD v4 |
1 | g.6473092C>A | CA338134569 | PLEKHG5 | c.878G>T (p.Arg293Leu) c.1052G>T (p.Arg351Leu) c.989G>T (p.Arg330Leu) n.1354G>T c.1085G>T (p.Arg362Leu) c.1175G>T (p.Arg392Leu) c.*1090G>T (n.*1090G>T) c.*706G>T (n.*706G>T) c.1109G>T (p.Arg370Leu) c.1046G>T (p.Arg349Leu) c.1115G>T (p.Arg372Leu) | |
1 | g.6473092C= | CA1151503078 | PLEKHG5 | c.878G= (p.Arg293=) c.1052G= (p.Arg351=) c.989G= (p.Arg330=) n.1354G= c.1085G= (p.Arg362=) c.1175G= (p.Arg392=) c.*1090G= (n.*1090G=) c.*706G= (n.*706G=) c.1109G= (p.Arg370=) c.1046G= (p.Arg349=) c.1115G= (p.Arg372=) | |
1 | g.6473092C>G | CA338134572 | PLEKHG5 | c.878G>C (p.Arg293Pro) c.1052G>C (p.Arg351Pro) c.989G>C (p.Arg330Pro) n.1354G>C c.1085G>C (p.Arg362Pro) c.1175G>C (p.Arg392Pro) c.*1090G>C (n.*1090G>C) c.*706G>C (n.*706G>C) c.1109G>C (p.Arg370Pro) c.1046G>C (p.Arg349Pro) c.1115G>C (p.Arg372Pro) | |
1 | g.6473092C>T | CA561720 | PLEKHG5 | c.878G>A (p.Arg293His) c.1052G>A (p.Arg351His) c.989G>A (p.Arg330His) n.1354G>A c.1085G>A (p.Arg362His) c.1175G>A (p.Arg392His) c.*1090G>A (n.*1090G>A) c.*706G>A (n.*706G>A) c.1109G>A (p.Arg370His) c.1046G>A (p.Arg349His) c.1115G>A (p.Arg372His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6473093G>A | CA561721 | PLEKHG5 | c.877C>T (p.Arg293Cys) c.1051C>T (p.Arg351Cys) c.988C>T (p.Arg330Cys) n.1353C>T c.1084C>T (p.Arg362Cys) c.1174C>T (p.Arg392Cys) c.*1089C>T (n.*1089C>T) c.*705C>T (n.*705C>T) c.1108C>T (p.Arg370Cys) c.1045C>T (p.Arg349Cys) c.1114C>T (p.Arg372Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6473093G>C | CA338134573 | PLEKHG5 | c.877C>G (p.Arg293Gly) c.1051C>G (p.Arg351Gly) c.988C>G (p.Arg330Gly) n.1353C>G c.1084C>G (p.Arg362Gly) c.1174C>G (p.Arg392Gly) c.*1089C>G (n.*1089C>G) c.*705C>G (n.*705C>G) c.1108C>G (p.Arg370Gly) c.1045C>G (p.Arg349Gly) c.1114C>G (p.Arg372Gly) | |
1 | g.6473093G= | CA1144007047 | PLEKHG5 | c.877C= (p.Arg293=) c.1051C= (p.Arg351=) c.988C= (p.Arg330=) n.1353C= c.1084C= (p.Arg362=) c.1174C= (p.Arg392=) c.*1089C= (n.*1089C=) c.*705C= (n.*705C=) c.1108C= (p.Arg370=) c.1045C= (p.Arg349=) c.1114C= (p.Arg372=) | |
1 | g.6473093G>T | CA338134582 | PLEKHG5 | c.877C>A (p.Arg293Ser) c.1051C>A (p.Arg351Ser) c.988C>A (p.Arg330Ser) n.1353C>A c.1084C>A (p.Arg362Ser) c.1174C>A (p.Arg392Ser) c.*1089C>A (n.*1089C>A) c.*705C>A (n.*705C>A) c.1108C>A (p.Arg370Ser) c.1045C>A (p.Arg349Ser) c.1114C>A (p.Arg372Ser) | |
1 | g.6473094C>A | CA415833491 | PLEKHG5 | c.876G>T (p.Leu292=) c.1050G>T (p.Leu350=) c.987G>T (p.Leu329=) n.1352G>T c.1083G>T (p.Leu361=) c.1173G>T (p.Leu391=) c.*1088G>T (n.*1088G>T) c.*704G>T (n.*704G>T) c.1107G>T (p.Leu369=) c.1044G>T (p.Leu348=) c.1113G>T (p.Leu371=) | |
1 | g.6473094C>G | CA415833493 | PLEKHG5 | c.876G>C (p.Leu292=) c.1050G>C (p.Leu350=) c.987G>C (p.Leu329=) n.1352G>C c.1083G>C (p.Leu361=) c.1173G>C (p.Leu391=) c.*1088G>C (n.*1088G>C) c.*704G>C (n.*704G>C) c.1107G>C (p.Leu369=) c.1044G>C (p.Leu348=) c.1113G>C (p.Leu371=) | |
1 | g.6473094C>T | CA415833492 | PLEKHG5 | c.876G>A (p.Leu292=) c.1050G>A (p.Leu350=) c.987G>A (p.Leu329=) n.1352G>A c.1083G>A (p.Leu361=) c.1173G>A (p.Leu391=) c.*1088G>A (n.*1088G>A) c.*704G>A (n.*704G>A) c.1107G>A (p.Leu369=) c.1044G>A (p.Leu348=) c.1113G>A (p.Leu371=) | |
1 | g.6473095A= | CA1151503086 | PLEKHG5 | c.875T= (p.Leu292=) c.1049T= (p.Leu350=) c.986T= (p.Leu329=) n.1351T= c.1082T= (p.Leu361=) c.1172T= (p.Leu391=) c.*1087T= (n.*1087T=) c.*703T= (n.*703T=) c.1106T= (p.Leu369=) c.1043T= (p.Leu348=) c.1112T= (p.Leu371=) | |
1 | g.6473095A>C | CA561722 | PLEKHG5 | c.875T>G (p.Leu292Arg) c.1049T>G (p.Leu350Arg) c.986T>G (p.Leu329Arg) n.1351T>G c.1082T>G (p.Leu361Arg) c.1172T>G (p.Leu391Arg) c.*1087T>G (n.*1087T>G) c.*703T>G (n.*703T>G) c.1106T>G (p.Leu369Arg) c.1043T>G (p.Leu348Arg) c.1112T>G (p.Leu371Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6473095A>G | CA338134611 | PLEKHG5 | c.875T>C (p.Leu292Pro) c.1049T>C (p.Leu350Pro) c.986T>C (p.Leu329Pro) n.1351T>C c.1082T>C (p.Leu361Pro) c.1172T>C (p.Leu391Pro) c.*1087T>C (n.*1087T>C) c.*703T>C (n.*703T>C) c.1106T>C (p.Leu369Pro) c.1043T>C (p.Leu348Pro) c.1112T>C (p.Leu371Pro) | |
1 | g.6473095A>T | CA338134590 | PLEKHG5 | c.875T>A (p.Leu292Gln) c.1049T>A (p.Leu350Gln) c.986T>A (p.Leu329Gln) n.1351T>A c.1082T>A (p.Leu361Gln) c.1172T>A (p.Leu391Gln) c.*1087T>A (n.*1087T>A) c.*703T>A (n.*703T>A) c.1106T>A (p.Leu369Gln) c.1043T>A (p.Leu348Gln) c.1112T>A (p.Leu371Gln) | |
1 | g.6473096G>A | CA415833494 | PLEKHG5 | c.874C>T (p.Leu292=) c.1048C>T (p.Leu350=) c.985C>T (p.Leu329=) n.1350C>T c.1081C>T (p.Leu361=) c.1171C>T (p.Leu391=) c.*1086C>T (n.*1086C>T) c.*702C>T (n.*702C>T) c.1105C>T (p.Leu369=) c.1042C>T (p.Leu348=) c.1111C>T (p.Leu371=) | COSMIC COSMIC COSMIC |
1 | g.6473096G>C | CA338134627 | PLEKHG5 | c.874C>G (p.Leu292Val) c.1048C>G (p.Leu350Val) c.985C>G (p.Leu329Val) n.1350C>G c.1081C>G (p.Leu361Val) c.1171C>G (p.Leu391Val) c.*1086C>G (n.*1086C>G) c.*702C>G (n.*702C>G) c.1105C>G (p.Leu369Val) c.1042C>G (p.Leu348Val) c.1111C>G (p.Leu371Val) | |
1 | g.6473096G>T | CA338134625 | PLEKHG5 | c.874C>A (p.Leu292Met) c.1048C>A (p.Leu350Met) c.985C>A (p.Leu329Met) n.1350C>A c.1081C>A (p.Leu361Met) c.1171C>A (p.Leu391Met) c.*1086C>A (n.*1086C>A) c.*702C>A (n.*702C>A) c.1105C>A (p.Leu369Met) c.1042C>A (p.Leu348Met) c.1111C>A (p.Leu371Met) | |
1 | g.6473096_6473097delinsGC | CA1151503089 | PLEKHG5 | c.873_874delinsGC (p.Gly291=) c.1047_1048delinsGC (p.Gly349=) c.984_985delinsGC (p.Gly328=) n.1349_1350delinsGC c.1080_1081delinsGC (p.Gly360=) c.1170_1171delinsGC (p.Gly390=) c.*1085_*1086delinsGC (n.*1085_*1086delinsGC) c.*701_*702delinsGC (n.*701_*702delinsGC) c.1104_1105delinsGC (p.Gly368=) c.1041_1042delinsGC (p.Gly347=) c.1110_1111delinsGC (p.Gly370=) | |
1 | g.6473096_6473098del | CA2642983126 | PLEKHG5 | c.872_874del (p.Gly291_Leu292delinsVal) c.1046_1048del (p.Gly349_Leu350delinsVal) c.983_985del (p.Gly328_Leu329delinsVal) n.1348_1350del c.1079_1081del (p.Gly360_Leu361delinsVal) c.1169_1171del (p.Gly390_Leu391delinsVal) c.*1084_*1086del (n.*1084_*1086del) c.*700_*702del (n.*700_*702del) c.1103_1105del (p.Gly368_Leu369delinsVal) c.1040_1042del (p.Gly347_Leu348delinsVal) c.1109_1111del (p.Gly370_Leu371delinsVal) | gnomAD v4 |
1 | g.6473097C>A | CA415833495 | PLEKHG5 | c.873G>T (p.Gly291=) c.1047G>T (p.Gly349=) c.984G>T (p.Gly328=) n.1349G>T c.1080G>T (p.Gly360=) c.1170G>T (p.Gly390=) c.*1085G>T (n.*1085G>T) c.*701G>T (n.*701G>T) c.1104G>T (p.Gly368=) c.1041G>T (p.Gly347=) c.1110G>T (p.Gly370=) | gnomAD v4 |
1 | g.6473097C= | CA1151503095 | PLEKHG5 | c.873G= (p.Gly291=) c.1047G= (p.Gly349=) c.984G= (p.Gly328=) n.1349G= c.1080G= (p.Gly360=) c.1170G= (p.Gly390=) c.*1085G= (n.*1085G=) c.*701G= (n.*701G=) c.1104G= (p.Gly368=) c.1041G= (p.Gly347=) c.1110G= (p.Gly370=) | |
1 | g.6473097C>G | CA561723 | PLEKHG5 | c.873G>C (p.Gly291=) c.1047G>C (p.Gly349=) c.984G>C (p.Gly328=) n.1349G>C c.1080G>C (p.Gly360=) c.1170G>C (p.Gly390=) c.*1085G>C (n.*1085G>C) c.*701G>C (n.*701G>C) c.1104G>C (p.Gly368=) c.1041G>C (p.Gly347=) c.1110G>C (p.Gly370=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6473097C>T | CA415833496 | PLEKHG5 | c.873G>A (p.Gly291=) c.1047G>A (p.Gly349=) c.984G>A (p.Gly328=) n.1349G>A c.1080G>A (p.Gly360=) c.1170G>A (p.Gly390=) c.*1085G>A (n.*1085G>A) c.*701G>A (n.*701G>A) c.1104G>A (p.Gly368=) c.1041G>A (p.Gly347=) c.1110G>A (p.Gly370=) | |
1 | g.6473101del | CA521018847 | PLEKHG5 | c.873del (p.Leu292CysfsTer23) c.1047del (p.Leu350CysfsTer23) c.984del (p.Leu329CysfsTer23) n.1349del c.1080del (p.Leu361CysfsTer23) c.1170del (p.Leu391CysfsTer23) c.*1085del (n.*1085del) c.*701del (n.*701del) c.1104del (p.Leu369CysfsTer23) c.1041del (p.Leu348CysfsTer23) c.1110del (p.Leu371CysfsTer23) | dbSNP gnomAD v2 |
1 | g.6473098C>A | CA338134628 | PLEKHG5 | c.872G>T (p.Gly291Val) c.1046G>T (p.Gly349Val) c.983G>T (p.Gly328Val) n.1348G>T c.1079G>T (p.Gly360Val) c.1169G>T (p.Gly390Val) c.*1084G>T (n.*1084G>T) c.*700G>T (n.*700G>T) c.1103G>T (p.Gly368Val) c.1040G>T (p.Gly347Val) c.1109G>T (p.Gly370Val) | |
1 | g.6473098C= | CA1151503105 | PLEKHG5 | c.872G= (p.Gly291=) c.1046G= (p.Gly349=) c.983G= (p.Gly328=) n.1348G= c.1079G= (p.Gly360=) c.1169G= (p.Gly390=) c.*1084G= (n.*1084G=) c.*700G= (n.*700G=) c.1103G= (p.Gly368=) c.1040G= (p.Gly347=) c.1109G= (p.Gly370=) | |
1 | g.6473098C>G | CA561724 | PLEKHG5 | c.872G>C (p.Gly291Ala) c.1046G>C (p.Gly349Ala) c.983G>C (p.Gly328Ala) n.1348G>C c.1079G>C (p.Gly360Ala) c.1169G>C (p.Gly390Ala) c.*1084G>C (n.*1084G>C) c.*700G>C (n.*700G>C) c.1103G>C (p.Gly368Ala) c.1040G>C (p.Gly347Ala) c.1109G>C (p.Gly370Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6473098C>T | CA338134630 | PLEKHG5 | c.872G>A (p.Gly291Glu) c.1046G>A (p.Gly349Glu) c.983G>A (p.Gly328Glu) n.1348G>A c.1079G>A (p.Gly360Glu) c.1169G>A (p.Gly390Glu) c.*1084G>A (n.*1084G>A) c.*700G>A (n.*700G>A) c.1103G>A (p.Gly368Glu) c.1040G>A (p.Gly347Glu) c.1109G>A (p.Gly370Glu) | |
1 | g.6473099C>A | CA338134648 | PLEKHG5 | c.871G>T (p.Gly291Trp) c.1045G>T (p.Gly349Trp) c.982G>T (p.Gly328Trp) n.1347G>T c.1078G>T (p.Gly360Trp) c.1168G>T (p.Gly390Trp) c.*1083G>T (n.*1083G>T) c.*699G>T (n.*699G>T) c.1102G>T (p.Gly368Trp) c.1039G>T (p.Gly347Trp) c.1108G>T (p.Gly370Trp) | |
1 | g.6473099C= | CA1151503108 | PLEKHG5 | c.871G= (p.Gly291=) c.1045G= (p.Gly349=) c.982G= (p.Gly328=) n.1347G= c.1078G= (p.Gly360=) c.1168G= (p.Gly390=) c.*1083G= (n.*1083G=) c.*699G= (n.*699G=) c.1102G= (p.Gly368=) c.1039G= (p.Gly347=) c.1108G= (p.Gly370=) | |
1 | g.6473099C>G | CA338134654 | PLEKHG5 | c.871G>C (p.Gly291Arg) c.1045G>C (p.Gly349Arg) c.982G>C (p.Gly328Arg) n.1347G>C c.1078G>C (p.Gly360Arg) c.1168G>C (p.Gly390Arg) c.*1083G>C (n.*1083G>C) c.*699G>C (n.*699G>C) c.1102G>C (p.Gly368Arg) c.1039G>C (p.Gly347Arg) c.1108G>C (p.Gly370Arg) | |
1 | g.6473099C>T | CA561725 | PLEKHG5 | c.871G>A (p.Gly291Arg) c.1045G>A (p.Gly349Arg) c.982G>A (p.Gly328Arg) n.1347G>A c.1078G>A (p.Gly360Arg) c.1168G>A (p.Gly390Arg) c.*1083G>A (n.*1083G>A) c.*699G>A (n.*699G>A) c.1102G>A (p.Gly368Arg) c.1039G>A (p.Gly347Arg) c.1108G>A (p.Gly370Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6473100C>A | CA415833497 | PLEKHG5 | c.870G>T (p.Arg290=) c.1044G>T (p.Arg348=) c.981G>T (p.Arg327=) n.1346G>T c.1077G>T (p.Arg359=) c.1167G>T (p.Arg389=) c.*1082G>T (n.*1082G>T) c.*698G>T (n.*698G>T) c.1101G>T (p.Arg367=) c.1038G>T (p.Arg346=) c.1107G>T (p.Arg369=) | |
1 | g.6473100C>G | CA415833498 | PLEKHG5 | c.870G>C (p.Arg290=) c.1044G>C (p.Arg348=) c.981G>C (p.Arg327=) n.1346G>C c.1077G>C (p.Arg359=) c.1167G>C (p.Arg389=) c.*1082G>C (n.*1082G>C) c.*698G>C (n.*698G>C) c.1101G>C (p.Arg367=) c.1038G>C (p.Arg346=) c.1107G>C (p.Arg369=) | |
1 | g.6473100C>T | CA415833499 | PLEKHG5 | c.870G>A (p.Arg290=) c.1044G>A (p.Arg348=) c.981G>A (p.Arg327=) n.1346G>A c.1077G>A (p.Arg359=) c.1167G>A (p.Arg389=) c.*1082G>A (n.*1082G>A) c.*698G>A (n.*698G>A) c.1101G>A (p.Arg367=) c.1038G>A (p.Arg346=) c.1107G>A (p.Arg369=) | ClinVar gnomAD v4 |
1 | g.6473101C>A | CA338134660 | PLEKHG5 | c.869G>T (p.Arg290Leu) c.1043G>T (p.Arg348Leu) c.980G>T (p.Arg327Leu) n.1345G>T c.1076G>T (p.Arg359Leu) c.1166G>T (p.Arg389Leu) c.*1081G>T (n.*1081G>T) c.*697G>T (n.*697G>T) c.1100G>T (p.Arg367Leu) c.1037G>T (p.Arg346Leu) c.1106G>T (p.Arg369Leu) | |
1 | g.6473101C= | CA1142197041 | PLEKHG5 | c.869G= (p.Arg290=) c.1043G= (p.Arg348=) c.980G= (p.Arg327=) n.1345G= c.1076G= (p.Arg359=) c.1166G= (p.Arg389=) c.*1081G= (n.*1081G=) c.*697G= (n.*697G=) c.1100G= (p.Arg367=) c.1037G= (p.Arg346=) c.1106G= (p.Arg369=) | |
1 | g.6473101C>G | CA338134663 | PLEKHG5 | c.869G>C (p.Arg290Pro) c.1043G>C (p.Arg348Pro) c.980G>C (p.Arg327Pro) n.1345G>C c.1076G>C (p.Arg359Pro) c.1166G>C (p.Arg389Pro) c.*1081G>C (n.*1081G>C) c.*697G>C (n.*697G>C) c.1100G>C (p.Arg367Pro) c.1037G>C (p.Arg346Pro) c.1106G>C (p.Arg369Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6473101C>T | CA561726 | PLEKHG5 | c.869G>A (p.Arg290Gln) c.1043G>A (p.Arg348Gln) c.980G>A (p.Arg327Gln) n.1345G>A c.1076G>A (p.Arg359Gln) c.1166G>A (p.Arg389Gln) c.*1081G>A (n.*1081G>A) c.*697G>A (n.*697G>A) c.1100G>A (p.Arg367Gln) c.1037G>A (p.Arg346Gln) c.1106G>A (p.Arg369Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6473102G>A | CA561727 | PLEKHG5 | c.868C>T (p.Arg290Trp) c.1042C>T (p.Arg348Trp) c.979C>T (p.Arg327Trp) n.1344C>T c.1075C>T (p.Arg359Trp) c.1165C>T (p.Arg389Trp) c.*1080C>T (n.*1080C>T) c.*696C>T (n.*696C>T) c.1099C>T (p.Arg367Trp) c.1036C>T (p.Arg346Trp) c.1105C>T (p.Arg369Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6473102G>C | CA338134680 | PLEKHG5 | c.868C>G (p.Arg290Gly) c.1042C>G (p.Arg348Gly) c.979C>G (p.Arg327Gly) n.1344C>G c.1075C>G (p.Arg359Gly) c.1165C>G (p.Arg389Gly) c.*1080C>G (n.*1080C>G) c.*696C>G (n.*696C>G) c.1099C>G (p.Arg367Gly) c.1036C>G (p.Arg346Gly) c.1105C>G (p.Arg369Gly) | gnomAD v4 |
1 | g.6473102G= | CA1151503120 | PLEKHG5 | c.868C= (p.Arg290=) c.1042C= (p.Arg348=) c.979C= (p.Arg327=) n.1344C= c.1075C= (p.Arg359=) c.1165C= (p.Arg389=) c.*1080C= (n.*1080C=) c.*696C= (n.*696C=) c.1099C= (p.Arg367=) c.1036C= (p.Arg346=) c.1105C= (p.Arg369=) | |
1 | g.6473102G>T | CA561729 | PLEKHG5 | c.868C>A (p.Arg290=) c.1042C>A (p.Arg348=) c.979C>A (p.Arg327=) n.1344C>A c.1075C>A (p.Arg359=) c.1165C>A (p.Arg389=) c.*1080C>A (n.*1080C>A) c.*696C>A (n.*696C>A) c.1099C>A (p.Arg367=) c.1036C>A (p.Arg346=) c.1105C>A (p.Arg369=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6473105dup | CA2742323505 | PLEKHG5 | c.868dup (p.Arg290ProfsTer8) c.1042dup (p.Arg348ProfsTer8) c.979dup (p.Arg327ProfsTer8) n.1344dup c.1075dup (p.Arg359ProfsTer8) c.1165dup (p.Arg389ProfsTer8) c.*1080dup (n.*1080dup) c.*696dup (n.*696dup) c.1099dup (p.Arg367ProfsTer8) c.1036dup (p.Arg346ProfsTer8) c.1105dup (p.Arg369ProfsTer8) | |
1 | g.6473102_6473111delinsGGGGCAGCCT | CA1151503123 | PLEKHG5 | c.859_868delinsAGGCTGCCCC (p.Arg287=) c.1033_1042delinsAGGCTGCCCC (p.Arg345=) c.970_979delinsAGGCTGCCCC (p.Arg324=) n.1335_1344delinsAGGCTGCCCC c.1066_1075delinsAGGCTGCCCC (p.Arg356=) c.1156_1165delinsAGGCTGCCCC (p.Arg386=) c.*1071_*1080delinsAGGCTGCCCC (n.*1071_*1080delinsAGGCTGCCCC) c.*687_*696delinsAGGCTGCCCC (n.*687_*696delinsAGGCTGCCCC) c.1090_1099delinsAGGCTGCCCC (p.Arg364=) c.1027_1036delinsAGGCTGCCCC (p.Arg343=) c.1096_1105delinsAGGCTGCCCC (p.Arg366=) | |
1 | g.6473103G>A | CA415833500 | PLEKHG5 | c.867C>T (p.Pro289=) c.1041C>T (p.Pro347=) c.978C>T (p.Pro326=) n.1343C>T c.1074C>T (p.Pro358=) c.1164C>T (p.Pro388=) c.*1079C>T (n.*1079C>T) c.*695C>T (n.*695C>T) c.1098C>T (p.Pro366=) c.1035C>T (p.Pro345=) c.1104C>T (p.Pro368=) | gnomAD v4 |
1 | g.6473103G>C | CA415833501 | PLEKHG5 | c.867C>G (p.Pro289=) c.1041C>G (p.Pro347=) c.978C>G (p.Pro326=) n.1343C>G c.1074C>G (p.Pro358=) c.1164C>G (p.Pro388=) c.*1079C>G (n.*1079C>G) c.*695C>G (n.*695C>G) c.1098C>G (p.Pro366=) c.1035C>G (p.Pro345=) c.1104C>G (p.Pro368=) | |
1 | g.6473103G>T | CA415833502 | PLEKHG5 | c.867C>A (p.Pro289=) c.1041C>A (p.Pro347=) c.978C>A (p.Pro326=) n.1343C>A c.1074C>A (p.Pro358=) c.1164C>A (p.Pro388=) c.*1079C>A (n.*1079C>A) c.*695C>A (n.*695C>A) c.1098C>A (p.Pro366=) c.1035C>A (p.Pro345=) c.1104C>A (p.Pro368=) | |
1 | g.6473111_6473119dup | CA998178033 | PLEKHG5 | c.859_867dup (p.Pro289_Arg290insArgLeuPro) c.1033_1041dup (p.Pro347_Arg348insArgLeuPro) c.970_978dup (p.Pro326_Arg327insArgLeuPro) n.1335_1343dup c.1066_1074dup (p.Pro358_Arg359insArgLeuPro) c.1156_1164dup (p.Pro388_Arg389insArgLeuPro) c.*1071_*1079dup (n.*1071_*1079dup) c.*687_*695dup (n.*687_*695dup) c.1090_1098dup (p.Pro366_Arg367insArgLeuPro) c.1027_1035dup (p.Pro345_Arg346insArgLeuPro) c.1096_1104dup (p.Pro368_Arg369insArgLeuPro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6473111_6473119del | CA561728 | PLEKHG5 | c.859_867del (p.Arg287_Pro289del) c.1033_1041del (p.Arg345_Pro347del) c.970_978del (p.Arg324_Pro326del) n.1335_1343del c.1066_1074del (p.Arg356_Pro358del) c.1156_1164del (p.Arg386_Pro388del) c.*1071_*1079del (n.*1071_*1079del) c.*687_*695del (n.*687_*695del) c.1090_1098del (p.Arg364_Pro366del) c.1027_1035del (p.Arg343_Pro345del) c.1096_1104del (p.Arg366_Pro368del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6473104G>A | CA338134698 | PLEKHG5 | c.866C>T (p.Pro289Leu) c.1040C>T (p.Pro347Leu) c.977C>T (p.Pro326Leu) n.1342C>T c.1073C>T (p.Pro358Leu) c.1163C>T (p.Pro388Leu) c.*1078C>T (n.*1078C>T) c.*694C>T (n.*694C>T) c.1097C>T (p.Pro366Leu) c.1034C>T (p.Pro345Leu) c.1103C>T (p.Pro368Leu) | dbSNP |
1 | g.6473104G>C | CA338134706 | PLEKHG5 | c.866C>G (p.Pro289Arg) c.1040C>G (p.Pro347Arg) c.977C>G (p.Pro326Arg) n.1342C>G c.1073C>G (p.Pro358Arg) c.1163C>G (p.Pro388Arg) c.*1078C>G (n.*1078C>G) c.*694C>G (n.*694C>G) c.1097C>G (p.Pro366Arg) c.1034C>G (p.Pro345Arg) c.1103C>G (p.Pro368Arg) | |
1 | g.6473104G= | CA1151503129 | PLEKHG5 | c.866C= (p.Pro289=) c.1040C= (p.Pro347=) c.977C= (p.Pro326=) n.1342C= c.1073C= (p.Pro358=) c.1163C= (p.Pro388=) c.*1078C= (n.*1078C=) c.*694C= (n.*694C=) c.1097C= (p.Pro366=) c.1034C= (p.Pro345=) c.1103C= (p.Pro368=) | |
1 | g.6473104G>T | CA338134709 | PLEKHG5 | c.866C>A (p.Pro289His) c.1040C>A (p.Pro347His) c.977C>A (p.Pro326His) n.1342C>A c.1073C>A (p.Pro358His) c.1163C>A (p.Pro388His) c.*1078C>A (n.*1078C>A) c.*694C>A (n.*694C>A) c.1097C>A (p.Pro366His) c.1034C>A (p.Pro345His) c.1103C>A (p.Pro368His) | |
1 | g.6473104_6473105insCATGA | CA2642983203 | PLEKHG5 | c.865_866insTCATG (p.Pro289LeufsTer28) c.1039_1040insTCATG (p.Pro347LeufsTer28) c.976_977insTCATG (p.Pro326LeufsTer28) n.1341_1342insTCATG c.1072_1073insTCATG (p.Pro358LeufsTer28) c.1162_1163insTCATG (p.Pro388LeufsTer28) c.*1077_*1078insTCATG (n.*1077_*1078insTCATG) c.*693_*694insTCATG (n.*693_*694insTCATG) c.1096_1097insTCATG (p.Pro366LeufsTer28) c.1033_1034insTCATG (p.Pro345LeufsTer28) c.1102_1103insTCATG (p.Pro368LeufsTer28) | gnomAD v4 |
1 | g.6473105G>A | CA561730 | PLEKHG5 | c.865C>T (p.Pro289Ser) c.1039C>T (p.Pro347Ser) c.976C>T (p.Pro326Ser) n.1341C>T c.1072C>T (p.Pro358Ser) c.1162C>T (p.Pro388Ser) c.*1077C>T (n.*1077C>T) c.*693C>T (n.*693C>T) c.1096C>T (p.Pro366Ser) c.1033C>T (p.Pro345Ser) c.1102C>T (p.Pro368Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.6473105G>C | CA338134719 | PLEKHG5 | c.865C>G (p.Pro289Ala) c.1039C>G (p.Pro347Ala) c.976C>G (p.Pro326Ala) n.1341C>G c.1072C>G (p.Pro358Ala) c.1162C>G (p.Pro388Ala) c.*1077C>G (n.*1077C>G) c.*693C>G (n.*693C>G) c.1096C>G (p.Pro366Ala) c.1033C>G (p.Pro345Ala) c.1102C>G (p.Pro368Ala) | |
1 | g.6473105G= | CA1143912211 | PLEKHG5 | c.865C= (p.Pro289=) c.1039C= (p.Pro347=) c.976C= (p.Pro326=) n.1341C= c.1072C= (p.Pro358=) c.1162C= (p.Pro388=) c.*1077C= (n.*1077C=) c.*693C= (n.*693C=) c.1096C= (p.Pro366=) c.1033C= (p.Pro345=) c.1102C= (p.Pro368=) | |
1 | g.6473105G>T | CA338134721 | PLEKHG5 | c.865C>A (p.Pro289Thr) c.1039C>A (p.Pro347Thr) c.976C>A (p.Pro326Thr) n.1341C>A c.1072C>A (p.Pro358Thr) c.1162C>A (p.Pro388Thr) c.*1077C>A (n.*1077C>A) c.*693C>A (n.*693C>A) c.1096C>A (p.Pro366Thr) c.1033C>A (p.Pro345Thr) c.1102C>A (p.Pro368Thr) | |
1 | g.6473106C>A | CA415833505 | PLEKHG5 | c.864G>T (p.Leu288=) c.1038G>T (p.Leu346=) c.975G>T (p.Leu325=) n.1340G>T c.1071G>T (p.Leu357=) c.1161G>T (p.Leu387=) c.*1076G>T (n.*1076G>T) c.*692G>T (n.*692G>T) c.1095G>T (p.Leu365=) c.1032G>T (p.Leu344=) c.1101G>T (p.Leu367=) | |
1 | g.6473106C= | CA1151503140 | PLEKHG5 | c.864G= (p.Leu288=) c.1038G= (p.Leu346=) c.975G= (p.Leu325=) n.1340G= c.1071G= (p.Leu357=) c.1161G= (p.Leu387=) c.*1076G= (n.*1076G=) c.*692G= (n.*692G=) c.1095G= (p.Leu365=) c.1032G= (p.Leu344=) c.1101G= (p.Leu367=) | |
1 | g.6473106C>G | CA415833507 | PLEKHG5 | c.864G>C (p.Leu288=) c.1038G>C (p.Leu346=) c.975G>C (p.Leu325=) n.1340G>C c.1071G>C (p.Leu357=) c.1161G>C (p.Leu387=) c.*1076G>C (n.*1076G>C) c.*692G>C (n.*692G>C) c.1095G>C (p.Leu365=) c.1032G>C (p.Leu344=) c.1101G>C (p.Leu367=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6473106C>T | CA415833506 | PLEKHG5 | c.864G>A (p.Leu288=) c.1038G>A (p.Leu346=) c.975G>A (p.Leu325=) n.1340G>A c.1071G>A (p.Leu357=) c.1161G>A (p.Leu387=) c.*1076G>A (n.*1076G>A) c.*692G>A (n.*692G>A) c.1095G>A (p.Leu365=) c.1032G>A (p.Leu344=) c.1101G>A (p.Leu367=) | |
1 | g.6473107A>C | CA338134740 | PLEKHG5 | c.863T>G (p.Leu288Arg) c.1037T>G (p.Leu346Arg) c.974T>G (p.Leu325Arg) n.1339T>G c.1070T>G (p.Leu357Arg) c.1160T>G (p.Leu387Arg) c.*1075T>G (n.*1075T>G) c.*691T>G (n.*691T>G) c.1094T>G (p.Leu365Arg) c.1031T>G (p.Leu344Arg) c.1100T>G (p.Leu367Arg) | |
1 | g.6473107A>G | CA338134727 | PLEKHG5 | c.863T>C (p.Leu288Pro) c.1037T>C (p.Leu346Pro) c.974T>C (p.Leu325Pro) n.1339T>C c.1070T>C (p.Leu357Pro) c.1160T>C (p.Leu387Pro) c.*1075T>C (n.*1075T>C) c.*691T>C (n.*691T>C) c.1094T>C (p.Leu365Pro) c.1031T>C (p.Leu344Pro) c.1100T>C (p.Leu367Pro) | |
1 | g.6473107A>T | CA338134733 | PLEKHG5 | c.863T>A (p.Leu288Gln) c.1037T>A (p.Leu346Gln) c.974T>A (p.Leu325Gln) n.1339T>A c.1070T>A (p.Leu357Gln) c.1160T>A (p.Leu387Gln) c.*1075T>A (n.*1075T>A) c.*691T>A (n.*691T>A) c.1094T>A (p.Leu365Gln) c.1031T>A (p.Leu344Gln) c.1100T>A (p.Leu367Gln) | |
1 | g.6473108G>A | CA415833508 | PLEKHG5 | c.862C>T (p.Leu288=) c.1036C>T (p.Leu346=) c.973C>T (p.Leu325=) n.1338C>T c.1069C>T (p.Leu357=) c.1159C>T (p.Leu387=) c.*1074C>T (n.*1074C>T) c.*690C>T (n.*690C>T) c.1093C>T (p.Leu365=) c.1030C>T (p.Leu344=) c.1099C>T (p.Leu367=) | |
1 | g.6473108G>C | CA338134742 | PLEKHG5 | c.862C>G (p.Leu288Val) c.1036C>G (p.Leu346Val) c.973C>G (p.Leu325Val) n.1338C>G c.1069C>G (p.Leu357Val) c.1159C>G (p.Leu387Val) c.*1074C>G (n.*1074C>G) c.*690C>G (n.*690C>G) c.1093C>G (p.Leu365Val) c.1030C>G (p.Leu344Val) c.1099C>G (p.Leu367Val) | dbSNP gnomAD v4 |
1 | g.6473108G= | CA1151503147 | PLEKHG5 | c.862C= (p.Leu288=) c.1036C= (p.Leu346=) c.973C= (p.Leu325=) n.1338C= c.1069C= (p.Leu357=) c.1159C= (p.Leu387=) c.*1074C= (n.*1074C=) c.*690C= (n.*690C=) c.1093C= (p.Leu365=) c.1030C= (p.Leu344=) c.1099C= (p.Leu367=) | |
1 | g.6473108G>T | CA338134743 | PLEKHG5 | c.862C>A (p.Leu288Met) c.1036C>A (p.Leu346Met) c.973C>A (p.Leu325Met) n.1338C>A c.1069C>A (p.Leu357Met) c.1159C>A (p.Leu387Met) c.*1074C>A (n.*1074C>A) c.*690C>A (n.*690C>A) c.1093C>A (p.Leu365Met) c.1030C>A (p.Leu344Met) c.1099C>A (p.Leu367Met) | |
1 | g.6473109C>A | CA338134747 | PLEKHG5 | c.861G>T (p.Arg287Ser) c.1035G>T (p.Arg345Ser) c.972G>T (p.Arg324Ser) n.1337G>T c.1068G>T (p.Arg356Ser) c.1158G>T (p.Arg386Ser) c.*1073G>T (n.*1073G>T) c.*689G>T (n.*689G>T) c.1092G>T (p.Arg364Ser) c.1029G>T (p.Arg343Ser) c.1098G>T (p.Arg366Ser) | |
1 | g.6473109C>G | CA338134749 | PLEKHG5 | c.861G>C (p.Arg287Ser) c.1035G>C (p.Arg345Ser) c.972G>C (p.Arg324Ser) n.1337G>C c.1068G>C (p.Arg356Ser) c.1158G>C (p.Arg386Ser) c.*1073G>C (n.*1073G>C) c.*689G>C (n.*689G>C) c.1092G>C (p.Arg364Ser) c.1029G>C (p.Arg343Ser) c.1098G>C (p.Arg366Ser) | gnomAD v4 |
1 | g.6473109C>T | CA415833510 | PLEKHG5 | c.861G>A (p.Arg287=) c.1035G>A (p.Arg345=) c.972G>A (p.Arg324=) n.1337G>A c.1068G>A (p.Arg356=) c.1158G>A (p.Arg386=) c.*1073G>A (n.*1073G>A) c.*689G>A (n.*689G>A) c.1092G>A (p.Arg364=) c.1029G>A (p.Arg343=) c.1098G>A (p.Arg366=) | |
1 | g.6473110C>A | CA338134766 | PLEKHG5 | c.860G>T (p.Arg287Met) c.1034G>T (p.Arg345Met) c.971G>T (p.Arg324Met) n.1336G>T c.1067G>T (p.Arg356Met) c.1157G>T (p.Arg386Met) c.*1072G>T (n.*1072G>T) c.*688G>T (n.*688G>T) c.1091G>T (p.Arg364Met) c.1028G>T (p.Arg343Met) c.1097G>T (p.Arg366Met) | |
1 | g.6473110C>G | CA338134770 | PLEKHG5 | c.860G>C (p.Arg287Thr) c.1034G>C (p.Arg345Thr) c.971G>C (p.Arg324Thr) n.1336G>C c.1067G>C (p.Arg356Thr) c.1157G>C (p.Arg386Thr) c.*1072G>C (n.*1072G>C) c.*688G>C (n.*688G>C) c.1091G>C (p.Arg364Thr) c.1028G>C (p.Arg343Thr) c.1097G>C (p.Arg366Thr) | |
1 | g.6473110C>T | CA338134771 | PLEKHG5 | c.860G>A (p.Arg287Lys) c.1034G>A (p.Arg345Lys) c.971G>A (p.Arg324Lys) n.1336G>A c.1067G>A (p.Arg356Lys) c.1157G>A (p.Arg386Lys) c.*1072G>A (n.*1072G>A) c.*688G>A (n.*688G>A) c.1091G>A (p.Arg364Lys) c.1028G>A (p.Arg343Lys) c.1097G>A (p.Arg366Lys) |