| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.6472999A= | CA1148417812 | PLEKHG5 | c.971T= (p.Ile324=) c.1145T= (p.Ile382=) c.1082T= (p.Ile361=) n.1447T= c.1178T= (p.Ile393=) c.1268T= (p.Ile423=) c.*1183T= (n.*1183T=) c.*799T= (n.*799T=) c.1202T= (p.Ile401=) c.1139T= (p.Ile380=) c.1208T= (p.Ile403=) | |
| 1 | g.6472999A>C | CA338133478 | PLEKHG5 | c.971T>G (p.Ile324Ser) c.1145T>G (p.Ile382Ser) c.1082T>G (p.Ile361Ser) n.1447T>G c.1178T>G (p.Ile393Ser) c.1268T>G (p.Ile423Ser) c.*1183T>G (n.*1183T>G) c.*799T>G (n.*799T>G) c.1202T>G (p.Ile401Ser) c.1139T>G (p.Ile380Ser) c.1208T>G (p.Ile403Ser) | |
| 1 | g.6472999A>G | CA561699 | PLEKHG5 | c.971T>C (p.Ile324Thr) c.1145T>C (p.Ile382Thr) c.1082T>C (p.Ile361Thr) n.1447T>C c.1178T>C (p.Ile393Thr) c.1268T>C (p.Ile423Thr) c.*1183T>C (n.*1183T>C) c.*799T>C (n.*799T>C) c.1202T>C (p.Ile401Thr) c.1139T>C (p.Ile380Thr) c.1208T>C (p.Ile403Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6472999A>T | CA338133474 | PLEKHG5 | c.971T>A (p.Ile324Asn) c.1145T>A (p.Ile382Asn) c.1082T>A (p.Ile361Asn) n.1447T>A c.1178T>A (p.Ile393Asn) c.1268T>A (p.Ile423Asn) c.*1183T>A (n.*1183T>A) c.*799T>A (n.*799T>A) c.1202T>A (p.Ile401Asn) c.1139T>A (p.Ile380Asn) c.1208T>A (p.Ile403Asn) | |
| 1 | g.6473000T>A | CA338133482 | PLEKHG5 | c.970A>T (p.Ile324Phe) c.1144A>T (p.Ile382Phe) c.1081A>T (p.Ile361Phe) n.1446A>T c.1177A>T (p.Ile393Phe) c.1267A>T (p.Ile423Phe) c.*1182A>T (n.*1182A>T) c.*798A>T (n.*798A>T) c.1201A>T (p.Ile401Phe) c.1138A>T (p.Ile380Phe) c.1207A>T (p.Ile403Phe) | |
| 1 | g.6473000T>C | CA338133487 | PLEKHG5 | c.970A>G (p.Ile324Val) c.1144A>G (p.Ile382Val) c.1081A>G (p.Ile361Val) n.1446A>G c.1177A>G (p.Ile393Val) c.1267A>G (p.Ile423Val) c.*1182A>G (n.*1182A>G) c.*798A>G (n.*798A>G) c.1201A>G (p.Ile401Val) c.1138A>G (p.Ile380Val) c.1207A>G (p.Ile403Val) | |
| 1 | g.6473000T>G | CA338133491 | PLEKHG5 | c.970A>C (p.Ile324Leu) c.1144A>C (p.Ile382Leu) c.1081A>C (p.Ile361Leu) n.1446A>C c.1177A>C (p.Ile393Leu) c.1267A>C (p.Ile423Leu) c.*1182A>C (n.*1182A>C) c.*798A>C (n.*798A>C) c.1201A>C (p.Ile401Leu) c.1138A>C (p.Ile380Leu) c.1207A>C (p.Ile403Leu) | gnomAD v4 |
| 1 | g.6473001G>A | CA17241706 | PLEKHG5 | c.969C>T (p.Leu323=) c.1143C>T (p.Leu381=) c.1080C>T (p.Leu360=) n.1445C>T c.1176C>T (p.Leu392=) c.1266C>T (p.Leu422=) c.*1181C>T (n.*1181C>T) c.*797C>T (n.*797C>T) c.1200C>T (p.Leu400=) c.1137C>T (p.Leu379=) c.1206C>T (p.Leu402=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6473001G>C | CA415833303 | PLEKHG5 | c.969C>G (p.Leu323=) c.1143C>G (p.Leu381=) c.1080C>G (p.Leu360=) n.1445C>G c.1176C>G (p.Leu392=) c.1266C>G (p.Leu422=) c.*1181C>G (n.*1181C>G) c.*797C>G (n.*797C>G) c.1200C>G (p.Leu400=) c.1137C>G (p.Leu379=) c.1206C>G (p.Leu402=) | |
| 1 | g.6473001G= | CA1151502666 | PLEKHG5 | c.969C= (p.Leu323=) c.1143C= (p.Leu381=) c.1080C= (p.Leu360=) n.1445C= c.1176C= (p.Leu392=) c.1266C= (p.Leu422=) c.*1181C= (n.*1181C=) c.*797C= (n.*797C=) c.1200C= (p.Leu400=) c.1137C= (p.Leu379=) c.1206C= (p.Leu402=) | |
| 1 | g.6473001G>T | CA415833304 | PLEKHG5 | c.969C>A (p.Leu323=) c.1143C>A (p.Leu381=) c.1080C>A (p.Leu360=) n.1445C>A c.1176C>A (p.Leu392=) c.1266C>A (p.Leu422=) c.*1181C>A (n.*1181C>A) c.*797C>A (n.*797C>A) c.1200C>A (p.Leu400=) c.1137C>A (p.Leu379=) c.1206C>A (p.Leu402=) | |
| 1 | g.6473002A>C | CA338133495 | PLEKHG5 | c.968T>G (p.Leu323Arg) c.1142T>G (p.Leu381Arg) c.1079T>G (p.Leu360Arg) n.1444T>G c.1175T>G (p.Leu392Arg) c.1265T>G (p.Leu422Arg) c.*1180T>G (n.*1180T>G) c.*796T>G (n.*796T>G) c.1199T>G (p.Leu400Arg) c.1136T>G (p.Leu379Arg) c.1205T>G (p.Leu402Arg) | |
| 1 | g.6473002A>G | CA338133510 | PLEKHG5 | c.968T>C (p.Leu323Pro) c.1142T>C (p.Leu381Pro) c.1079T>C (p.Leu360Pro) n.1444T>C c.1175T>C (p.Leu392Pro) c.1265T>C (p.Leu422Pro) c.*1180T>C (n.*1180T>C) c.*796T>C (n.*796T>C) c.1199T>C (p.Leu400Pro) c.1136T>C (p.Leu379Pro) c.1205T>C (p.Leu402Pro) | gnomAD v4 |
| 1 | g.6473002A>T | CA338133512 | PLEKHG5 | c.968T>A (p.Leu323His) c.1142T>A (p.Leu381His) c.1079T>A (p.Leu360His) n.1444T>A c.1175T>A (p.Leu392His) c.1265T>A (p.Leu422His) c.*1180T>A (n.*1180T>A) c.*796T>A (n.*796T>A) c.1199T>A (p.Leu400His) c.1136T>A (p.Leu379His) c.1205T>A (p.Leu402His) | |
| 1 | g.6473003G>A | CA338133517 | PLEKHG5 | c.967C>T (p.Leu323Phe) c.1141C>T (p.Leu381Phe) c.1078C>T (p.Leu360Phe) n.1443C>T c.1174C>T (p.Leu392Phe) c.1264C>T (p.Leu422Phe) c.*1179C>T (n.*1179C>T) c.*795C>T (n.*795C>T) c.1198C>T (p.Leu400Phe) c.1135C>T (p.Leu379Phe) c.1204C>T (p.Leu402Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6473003G>C | CA338133523 | PLEKHG5 | c.967C>G (p.Leu323Val) c.1141C>G (p.Leu381Val) c.1078C>G (p.Leu360Val) n.1443C>G c.1174C>G (p.Leu392Val) c.1264C>G (p.Leu422Val) c.*1179C>G (n.*1179C>G) c.*795C>G (n.*795C>G) c.1198C>G (p.Leu400Val) c.1135C>G (p.Leu379Val) c.1204C>G (p.Leu402Val) | |
| 1 | g.6473003G= | CA1151502669 | PLEKHG5 | c.967C= (p.Leu323=) c.1141C= (p.Leu381=) c.1078C= (p.Leu360=) n.1443C= c.1174C= (p.Leu392=) c.1264C= (p.Leu422=) c.*1179C= (n.*1179C=) c.*795C= (n.*795C=) c.1198C= (p.Leu400=) c.1135C= (p.Leu379=) c.1204C= (p.Leu402=) | |
| 1 | g.6473003G>T | CA338133526 | PLEKHG5 | c.967C>A (p.Leu323Ile) c.1141C>A (p.Leu381Ile) c.1078C>A (p.Leu360Ile) n.1443C>A c.1174C>A (p.Leu392Ile) c.1264C>A (p.Leu422Ile) c.*1179C>A (n.*1179C>A) c.*795C>A (n.*795C>A) c.1198C>A (p.Leu400Ile) c.1135C>A (p.Leu379Ile) c.1204C>A (p.Leu402Ile) | ClinVar dbSNP gnomAD v4 |
| 1 | g.6473004C>A | CA338133531 | PLEKHG5 | c.966G>T (p.Glu322Asp) c.1140G>T (p.Glu380Asp) c.1077G>T (p.Glu359Asp) n.1442G>T c.1173G>T (p.Glu391Asp) c.1263G>T (p.Glu421Asp) c.*1178G>T (n.*1178G>T) c.*794G>T (n.*794G>T) c.1197G>T (p.Glu399Asp) c.1134G>T (p.Glu378Asp) c.1203G>T (p.Glu401Asp) | |
| 1 | g.6473004C= | CA1151502672 | PLEKHG5 | c.966G= (p.Glu322=) c.1140G= (p.Glu380=) c.1077G= (p.Glu359=) n.1442G= c.1173G= (p.Glu391=) c.1263G= (p.Glu421=) c.*1178G= (n.*1178G=) c.*794G= (n.*794G=) c.1197G= (p.Glu399=) c.1134G= (p.Glu378=) c.1203G= (p.Glu401=) | |
| 1 | g.6473004C>G | CA338133542 | PLEKHG5 | c.966G>C (p.Glu322Asp) c.1140G>C (p.Glu380Asp) c.1077G>C (p.Glu359Asp) n.1442G>C c.1173G>C (p.Glu391Asp) c.1263G>C (p.Glu421Asp) c.*1178G>C (n.*1178G>C) c.*794G>C (n.*794G>C) c.1197G>C (p.Glu399Asp) c.1134G>C (p.Glu378Asp) c.1203G>C (p.Glu401Asp) | |
| 1 | g.6473004C>T | CA415833317 | PLEKHG5 | c.966G>A (p.Glu322=) c.1140G>A (p.Glu380=) c.1077G>A (p.Glu359=) n.1442G>A c.1173G>A (p.Glu391=) c.1263G>A (p.Glu421=) c.*1178G>A (n.*1178G>A) c.*794G>A (n.*794G>A) c.1197G>A (p.Glu399=) c.1134G>A (p.Glu378=) c.1203G>A (p.Glu401=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6473005T>A | CA338133545 | PLEKHG5 | c.965A>T (p.Glu322Val) c.1139A>T (p.Glu380Val) c.1076A>T (p.Glu359Val) n.1441A>T c.1172A>T (p.Glu391Val) c.1262A>T (p.Glu421Val) c.*1177A>T (n.*1177A>T) c.*793A>T (n.*793A>T) c.1196A>T (p.Glu399Val) c.1133A>T (p.Glu378Val) c.1202A>T (p.Glu401Val) | |
| 1 | g.6473005T>C | CA338133543 | PLEKHG5 | c.965A>G (p.Glu322Gly) c.1139A>G (p.Glu380Gly) c.1076A>G (p.Glu359Gly) n.1441A>G c.1172A>G (p.Glu391Gly) c.1262A>G (p.Glu421Gly) c.*1177A>G (n.*1177A>G) c.*793A>G (n.*793A>G) c.1196A>G (p.Glu399Gly) c.1133A>G (p.Glu378Gly) c.1202A>G (p.Glu401Gly) | dbSNP |
| 1 | g.6473005T>G | CA338133544 | PLEKHG5 | c.965A>C (p.Glu322Ala) c.1139A>C (p.Glu380Ala) c.1076A>C (p.Glu359Ala) n.1441A>C c.1172A>C (p.Glu391Ala) c.1262A>C (p.Glu421Ala) c.*1177A>C (n.*1177A>C) c.*793A>C (n.*793A>C) c.1196A>C (p.Glu399Ala) c.1133A>C (p.Glu378Ala) c.1202A>C (p.Glu401Ala) | |
| 1 | g.6473005T= | CA1151502679 | PLEKHG5 | c.965A= (p.Glu322=) c.1139A= (p.Glu380=) c.1076A= (p.Glu359=) n.1441A= c.1172A= (p.Glu391=) c.1262A= (p.Glu421=) c.*1177A= (n.*1177A=) c.*793A= (n.*793A=) c.1196A= (p.Glu399=) c.1133A= (p.Glu378=) c.1202A= (p.Glu401=) | |
| 1 | g.6473006C>A | CA338133546 | PLEKHG5 | c.964G>T (p.Glu322Ter) c.1138G>T (p.Glu380Ter) c.1075G>T (p.Glu359Ter) n.1440G>T c.1171G>T (p.Glu391Ter) c.1261G>T (p.Glu421Ter) c.*1176G>T (n.*1176G>T) c.*792G>T (n.*792G>T) c.1195G>T (p.Glu399Ter) c.1132G>T (p.Glu378Ter) c.1201G>T (p.Glu401Ter) | |
| 1 | g.6473006C>G | CA338133548 | PLEKHG5 | c.964G>C (p.Glu322Gln) c.1138G>C (p.Glu380Gln) c.1075G>C (p.Glu359Gln) n.1440G>C c.1171G>C (p.Glu391Gln) c.1261G>C (p.Glu421Gln) c.*1176G>C (n.*1176G>C) c.*792G>C (n.*792G>C) c.1195G>C (p.Glu399Gln) c.1132G>C (p.Glu378Gln) c.1201G>C (p.Glu401Gln) | |
| 1 | g.6473006C>T | CA338133550 | PLEKHG5 | c.964G>A (p.Glu322Lys) c.1138G>A (p.Glu380Lys) c.1075G>A (p.Glu359Lys) n.1440G>A c.1171G>A (p.Glu391Lys) c.1261G>A (p.Glu421Lys) c.*1176G>A (n.*1176G>A) c.*792G>A (n.*792G>A) c.1195G>A (p.Glu399Lys) c.1132G>A (p.Glu378Lys) c.1201G>A (p.Glu401Lys) | COSMIC COSMIC |
| 1 | g.6473007C>A | CA415833329 | PLEKHG5 | c.963G>T (p.Arg321=) c.1137G>T (p.Arg379=) c.1074G>T (p.Arg358=) n.1439G>T c.1170G>T (p.Arg390=) c.1260G>T (p.Arg420=) c.*1175G>T (n.*1175G>T) c.*791G>T (n.*791G>T) c.1194G>T (p.Arg398=) c.1131G>T (p.Arg377=) c.1200G>T (p.Arg400=) | |
| 1 | g.6473007C>G | CA415833331 | PLEKHG5 | c.963G>C (p.Arg321=) c.1137G>C (p.Arg379=) c.1074G>C (p.Arg358=) n.1439G>C c.1170G>C (p.Arg390=) c.1260G>C (p.Arg420=) c.*1175G>C (n.*1175G>C) c.*791G>C (n.*791G>C) c.1194G>C (p.Arg398=) c.1131G>C (p.Arg377=) c.1200G>C (p.Arg400=) | |
| 1 | g.6473007C>T | CA415833332 | PLEKHG5 | c.963G>A (p.Arg321=) c.1137G>A (p.Arg379=) c.1074G>A (p.Arg358=) n.1439G>A c.1170G>A (p.Arg390=) c.1260G>A (p.Arg420=) c.*1175G>A (n.*1175G>A) c.*791G>A (n.*791G>A) c.1194G>A (p.Arg398=) c.1131G>A (p.Arg377=) c.1200G>A (p.Arg400=) | |
| 1 | g.6473008C>A | CA338133552 | PLEKHG5 | c.962G>T (p.Arg321Leu) c.1136G>T (p.Arg379Leu) c.1073G>T (p.Arg358Leu) n.1438G>T c.1169G>T (p.Arg390Leu) c.1259G>T (p.Arg420Leu) c.*1174G>T (n.*1174G>T) c.*790G>T (n.*790G>T) c.1193G>T (p.Arg398Leu) c.1130G>T (p.Arg377Leu) c.1199G>T (p.Arg400Leu) | |
| 1 | g.6473008C= | CA1151502692 | PLEKHG5 | c.962G= (p.Arg321=) c.1136G= (p.Arg379=) c.1073G= (p.Arg358=) n.1438G= c.1169G= (p.Arg390=) c.1259G= (p.Arg420=) c.*1174G= (n.*1174G=) c.*790G= (n.*790G=) c.1193G= (p.Arg398=) c.1130G= (p.Arg377=) c.1199G= (p.Arg400=) | |
| 1 | g.6473008C>G | CA338133553 | PLEKHG5 | c.962G>C (p.Arg321Pro) c.1136G>C (p.Arg379Pro) c.1073G>C (p.Arg358Pro) n.1438G>C c.1169G>C (p.Arg390Pro) c.1259G>C (p.Arg420Pro) c.*1174G>C (n.*1174G>C) c.*790G>C (n.*790G>C) c.1193G>C (p.Arg398Pro) c.1130G>C (p.Arg377Pro) c.1199G>C (p.Arg400Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6473008C>T | CA561700 | PLEKHG5 | c.962G>A (p.Arg321Gln) c.1136G>A (p.Arg379Gln) c.1073G>A (p.Arg358Gln) n.1438G>A c.1169G>A (p.Arg390Gln) c.1259G>A (p.Arg420Gln) c.*1174G>A (n.*1174G>A) c.*790G>A (n.*790G>A) c.1193G>A (p.Arg398Gln) c.1130G>A (p.Arg377Gln) c.1199G>A (p.Arg400Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.6473009G>A | CA561701 | PLEKHG5 | c.961C>T (p.Arg321Trp) c.1135C>T (p.Arg379Trp) c.1072C>T (p.Arg358Trp) n.1437C>T c.1168C>T (p.Arg390Trp) c.1258C>T (p.Arg420Trp) c.*1173C>T (n.*1173C>T) c.*789C>T (n.*789C>T) c.1192C>T (p.Arg398Trp) c.1129C>T (p.Arg377Trp) c.1198C>T (p.Arg400Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6473009G>C | CA338133555 | PLEKHG5 | c.961C>G (p.Arg321Gly) c.1135C>G (p.Arg379Gly) c.1072C>G (p.Arg358Gly) n.1437C>G c.1168C>G (p.Arg390Gly) c.1258C>G (p.Arg420Gly) c.*1173C>G (n.*1173C>G) c.*789C>G (n.*789C>G) c.1192C>G (p.Arg398Gly) c.1129C>G (p.Arg377Gly) c.1198C>G (p.Arg400Gly) | |
| 1 | g.6473009G= | CA1151502700 | PLEKHG5 | c.961C= (p.Arg321=) c.1135C= (p.Arg379=) c.1072C= (p.Arg358=) n.1437C= c.1168C= (p.Arg390=) c.1258C= (p.Arg420=) c.*1173C= (n.*1173C=) c.*789C= (n.*789C=) c.1192C= (p.Arg398=) c.1129C= (p.Arg377=) c.1198C= (p.Arg400=) | |
| 1 | g.6473009G>T | CA415833341 | PLEKHG5 | c.961C>A (p.Arg321=) c.1135C>A (p.Arg379=) c.1072C>A (p.Arg358=) n.1437C>A c.1168C>A (p.Arg390=) c.1258C>A (p.Arg420=) c.*1173C>A (n.*1173C>A) c.*789C>A (n.*789C>A) c.1192C>A (p.Arg398=) c.1129C>A (p.Arg377=) c.1198C>A (p.Arg400=) | |
| 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 |