WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.6472993C>A | CA338133372 | PLEKHG5 | c.977G>T (p.Gly326Val) c.1151G>T (p.Gly384Val) c.1088G>T (p.Gly363Val) n.1453G>T c.1184G>T (p.Gly395Val) c.1274G>T (p.Gly425Val) c.*1189G>T (n.*1189G>T) c.*805G>T (n.*805G>T) c.1208G>T (p.Gly403Val) c.1145G>T (p.Gly382Val) c.1214G>T (p.Gly405Val) | |
| 1 | g.6472993C>G | CA338133373 | PLEKHG5 | c.977G>C (p.Gly326Ala) c.1151G>C (p.Gly384Ala) c.1088G>C (p.Gly363Ala) n.1453G>C c.1184G>C (p.Gly395Ala) c.1274G>C (p.Gly425Ala) c.*1189G>C (n.*1189G>C) c.*805G>C (n.*805G>C) c.1208G>C (p.Gly403Ala) c.1145G>C (p.Gly382Ala) c.1214G>C (p.Gly405Ala) | |
| 1 | g.6472993C>T | CA338133374 | PLEKHG5 | c.977G>A (p.Gly326Glu) c.1151G>A (p.Gly384Glu) c.1088G>A (p.Gly363Glu) n.1453G>A c.1184G>A (p.Gly395Glu) c.1274G>A (p.Gly425Glu) c.*1189G>A (n.*1189G>A) c.*805G>A (n.*805G>A) c.1208G>A (p.Gly403Glu) c.1145G>A (p.Gly382Glu) c.1214G>A (p.Gly405Glu) | gnomAD v4 |
| 1 | g.6472994C>A | CA338133375 | PLEKHG5 | c.976G>T (p.Gly326Trp) c.1150G>T (p.Gly384Trp) c.1087G>T (p.Gly363Trp) n.1452G>T c.1183G>T (p.Gly395Trp) c.1273G>T (p.Gly425Trp) c.*1188G>T (n.*1188G>T) c.*804G>T (n.*804G>T) c.1207G>T (p.Gly403Trp) c.1144G>T (p.Gly382Trp) c.1213G>T (p.Gly405Trp) | |
| 1 | g.6472994C>G | CA338133378 | PLEKHG5 | c.976G>C (p.Gly326Arg) c.1150G>C (p.Gly384Arg) c.1087G>C (p.Gly363Arg) n.1452G>C c.1183G>C (p.Gly395Arg) c.1273G>C (p.Gly425Arg) c.*1188G>C (n.*1188G>C) c.*804G>C (n.*804G>C) c.1207G>C (p.Gly403Arg) c.1144G>C (p.Gly382Arg) c.1213G>C (p.Gly405Arg) | |
| 1 | g.6472994C>T | CA338133380 | PLEKHG5 | c.976G>A (p.Gly326Arg) c.1150G>A (p.Gly384Arg) c.1087G>A (p.Gly363Arg) n.1452G>A c.1183G>A (p.Gly395Arg) c.1273G>A (p.Gly425Arg) c.*1188G>A (n.*1188G>A) c.*804G>A (n.*804G>A) c.1207G>A (p.Gly403Arg) c.1144G>A (p.Gly382Arg) c.1213G>A (p.Gly405Arg) | gnomAD v4 |
| 1 | g.6472995A>C | CA338133382 | PLEKHG5 | c.975T>G (p.Asp325Glu) c.1149T>G (p.Asp383Glu) c.1086T>G (p.Asp362Glu) n.1451T>G c.1182T>G (p.Asp394Glu) c.1272T>G (p.Asp424Glu) c.*1187T>G (n.*1187T>G) c.*803T>G (n.*803T>G) c.1206T>G (p.Asp402Glu) c.1143T>G (p.Asp381Glu) c.1212T>G (p.Asp404Glu) | |
| 1 | g.6472995A>G | CA415833287 | PLEKHG5 | c.975T>C (p.Asp325=) c.1149T>C (p.Asp383=) c.1086T>C (p.Asp362=) n.1451T>C c.1182T>C (p.Asp394=) c.1272T>C (p.Asp424=) c.*1187T>C (n.*1187T>C) c.*803T>C (n.*803T>C) c.1206T>C (p.Asp402=) c.1143T>C (p.Asp381=) c.1212T>C (p.Asp404=) | |
| 1 | g.6472995A>T | CA338133391 | PLEKHG5 | c.975T>A (p.Asp325Glu) c.1149T>A (p.Asp383Glu) c.1086T>A (p.Asp362Glu) n.1451T>A c.1182T>A (p.Asp394Glu) c.1272T>A (p.Asp424Glu) c.*1187T>A (n.*1187T>A) c.*803T>A (n.*803T>A) c.1206T>A (p.Asp402Glu) c.1143T>A (p.Asp381Glu) c.1212T>A (p.Asp404Glu) | |
| 1 | g.6472996T>A | CA338133396 | PLEKHG5 | c.974A>T (p.Asp325Val) c.1148A>T (p.Asp383Val) c.1085A>T (p.Asp362Val) n.1450A>T c.1181A>T (p.Asp394Val) c.1271A>T (p.Asp424Val) c.*1186A>T (n.*1186A>T) c.*802A>T (n.*802A>T) c.1205A>T (p.Asp402Val) c.1142A>T (p.Asp381Val) c.1211A>T (p.Asp404Val) | |
| 1 | g.6472996T>C | CA338133409 | PLEKHG5 | c.974A>G (p.Asp325Gly) c.1148A>G (p.Asp383Gly) c.1085A>G (p.Asp362Gly) n.1450A>G c.1181A>G (p.Asp394Gly) c.1271A>G (p.Asp424Gly) c.*1186A>G (n.*1186A>G) c.*802A>G (n.*802A>G) c.1205A>G (p.Asp402Gly) c.1142A>G (p.Asp381Gly) c.1211A>G (p.Asp404Gly) | |
| 1 | g.6472996T>G | CA338133393 | PLEKHG5 | c.974A>C (p.Asp325Ala) c.1148A>C (p.Asp383Ala) c.1085A>C (p.Asp362Ala) n.1450A>C c.1181A>C (p.Asp394Ala) c.1271A>C (p.Asp424Ala) c.*1186A>C (n.*1186A>C) c.*802A>C (n.*802A>C) c.1205A>C (p.Asp402Ala) c.1142A>C (p.Asp381Ala) c.1211A>C (p.Asp404Ala) | |
| 1 | g.6472997C>A | CA338133455 | PLEKHG5 | c.973G>T (p.Asp325Tyr) c.1147G>T (p.Asp383Tyr) c.1084G>T (p.Asp362Tyr) n.1449G>T c.1180G>T (p.Asp394Tyr) c.1270G>T (p.Asp424Tyr) c.*1185G>T (n.*1185G>T) c.*801G>T (n.*801G>T) c.1204G>T (p.Asp402Tyr) c.1141G>T (p.Asp381Tyr) c.1210G>T (p.Asp404Tyr) | |
| 1 | g.6472997C>G | CA338133414 | PLEKHG5 | c.973G>C (p.Asp325His) c.1147G>C (p.Asp383His) c.1084G>C (p.Asp362His) n.1449G>C c.1180G>C (p.Asp394His) c.1270G>C (p.Asp424His) c.*1185G>C (n.*1185G>C) c.*801G>C (n.*801G>C) c.1204G>C (p.Asp402His) c.1141G>C (p.Asp381His) c.1210G>C (p.Asp404His) | |
| 1 | g.6472997C>T | CA338133460 | PLEKHG5 | c.973G>A (p.Asp325Asn) c.1147G>A (p.Asp383Asn) c.1084G>A (p.Asp362Asn) n.1449G>A c.1180G>A (p.Asp394Asn) c.1270G>A (p.Asp424Asn) c.*1185G>A (n.*1185G>A) c.*801G>A (n.*801G>A) c.1204G>A (p.Asp402Asn) c.1141G>A (p.Asp381Asn) c.1210G>A (p.Asp404Asn) | |
| 1 | g.6472998A>C | CA338133465 | PLEKHG5 | c.972T>G (p.Ile324Met) c.1146T>G (p.Ile382Met) c.1083T>G (p.Ile361Met) n.1448T>G c.1179T>G (p.Ile393Met) c.1269T>G (p.Ile423Met) c.*1184T>G (n.*1184T>G) c.*800T>G (n.*800T>G) c.1203T>G (p.Ile401Met) c.1140T>G (p.Ile380Met) c.1209T>G (p.Ile403Met) | gnomAD v4 |
| 1 | g.6472998A>G | CA415833293 | PLEKHG5 | c.972T>C (p.Ile324=) c.1146T>C (p.Ile382=) c.1083T>C (p.Ile361=) n.1448T>C c.1179T>C (p.Ile393=) c.1269T>C (p.Ile423=) c.*1184T>C (n.*1184T>C) c.*800T>C (n.*800T>C) c.1203T>C (p.Ile401=) c.1140T>C (p.Ile380=) c.1209T>C (p.Ile403=) | |
| 1 | g.6472998A>T | CA415833294 | PLEKHG5 | c.972T>A (p.Ile324=) c.1146T>A (p.Ile382=) c.1083T>A (p.Ile361=) n.1448T>A c.1179T>A (p.Ile393=) c.1269T>A (p.Ile423=) c.*1184T>A (n.*1184T>A) c.*800T>A (n.*800T>A) c.1203T>A (p.Ile401=) c.1140T>A (p.Ile380=) c.1209T>A (p.Ile403=) | |
| 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=) |