Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.6473046_6473060dupCA521018842PLEKHG5c.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
1g.6473046_6473055delinsATCCTCGTCTCA1151502818PLEKHG5c.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=)
1g.6473046_6473067delinsATCCTCGTCTTCATCGTACTCCCA1151502821PLEKHG5c.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=)
1g.6473049_6473057delCA521018844PLEKHG5c.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
1g.6473052_6473072delCA521018843PLEKHG5c.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
1g.6473052_6473057delCA2642982884PLEKHG5c.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
1g.6473054_6473062dupCA561708PLEKHG5c.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
1g.6473052_6473056delCA2574195611PLEKHG5c.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)
1g.6473052_6473058delinsGTCTTCACA1144228658PLEKHG5c.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=)
1g.6473052_6473058dupCA144675PLEKHG5c.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
1g.6473055_6473060dupCA2574195614PLEKHG5c.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)
1g.6473054C>ACA338134024PLEKHG5c.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)
1g.6473054C=CA1151502874PLEKHG5c.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=)
1g.6473054C>GCA338134036PLEKHG5c.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)
1g.6473054C>TCA561712PLEKHG5c.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
1g.6473055T>ACA338134048PLEKHG5c.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)
1g.6473055T>CCA17241843PLEKHG5c.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
1g.6473055T>GCA338134056PLEKHG5c.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)
1g.6473055T=CA1143480854PLEKHG5c.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=)
1g.6473055_6473058delinsTTCACA1151502883PLEKHG5c.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=)
1g.6473056_6473059dupCA998177975PLEKHG5c.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
1g.6473056T>ACA338134063PLEKHG5c.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)
1g.6473056T>CCA338134066PLEKHG5c.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)
1g.6473056T>GCA338134078PLEKHG5c.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)
1g.6473058_6473060dupCA2574195626PLEKHG5c.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)
1g.6473058_6473060delCA913189289PLEKHG5c.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
1g.6473057C>ACA338134086PLEKHG5c.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)
1g.6473057C=CA1151502896PLEKHG5c.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=)
1g.6473057C>GCA338134098PLEKHG5c.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)
1g.6473057C>TCA561713PLEKHG5c.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
1g.6473058A=CA1151502904PLEKHG5c.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=)
1g.6473058A>CCA338134110PLEKHG5c.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
1g.6473058A>GCA415833464PLEKHG5c.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=)
1g.6473058A>TCA338134115PLEKHG5c.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)
1g.6473059T>ACA338134135PLEKHG5c.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
1g.6473059T>CCA338134139PLEKHG5c.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
1g.6473059T>GCA338134137PLEKHG5c.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)
1g.6473060_6473062delCA2573132141PLEKHG5c.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
1g.6473060C>ACA338134146PLEKHG5c.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
1g.6473060C=CA1151502910PLEKHG5c.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=)
1g.6473060C>GCA338134168PLEKHG5c.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
1g.6473060C>TCA338134174PLEKHG5c.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
1g.6473061G>ACA561714PLEKHG5c.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
1g.6473061G>CCA338134175PLEKHG5c.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
1g.6473061G=CA1144157166PLEKHG5c.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=)
1g.6473061G>TCA338134179PLEKHG5c.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
1g.6473062T>ACA338134192PLEKHG5c.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)
1g.6473062T>CCA338134194PLEKHG5c.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)
1g.6473062T>GCA338134202PLEKHG5c.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)
1g.6473063A=CA1151502932PLEKHG5c.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=)
1g.6473063A>CCA338134209PLEKHG5c.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)
1g.6473063A>GCA338134211PLEKHG5c.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
1g.6473063A>TCA338134215PLEKHG5c.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)
1g.6473063_6473066delinsACTCCA1151502934PLEKHG5c.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=)
1g.6473064C>ACA338134233PLEKHG5c.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)
1g.6473064C=CA1151502946PLEKHG5c.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=)
1g.6473064C>GCA338134221PLEKHG5c.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)
1g.6473064C>TCA415833465PLEKHG5c.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
1g.6473071_6473073delCA521018845PLEKHG5c.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
1g.6473065T>ACA338134234PLEKHG5c.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)
1g.6473065T>CCA338134238PLEKHG5c.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)
1g.6473065T>GCA338134239PLEKHG5c.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)
1g.6473066C>ACA338134241PLEKHG5c.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)
1g.6473066C=CA1151502956PLEKHG5c.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=)
1g.6473066C>GCA338134242PLEKHG5c.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)
1g.6473066C>TCA338134244PLEKHG5c.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
1g.6473067C>ACA338134250PLEKHG5c.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)
1g.6473067C=CA1151502967PLEKHG5c.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=)
1g.6473067C>GCA338134253PLEKHG5c.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)
1g.6473067C>TCA561715PLEKHG5c.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
1g.6473068T>ACA338134265PLEKHG5c.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)
1g.6473068T>CCA338134273PLEKHG5c.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)
1g.6473068T>GCA338134281PLEKHG5c.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)
1g.6473069C>ACA338134287PLEKHG5c.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)
1g.6473069C>GCA338134288PLEKHG5c.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)
1g.6473069C>TCA338134286PLEKHG5c.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)
1g.6473070C>ACA338134294PLEKHG5c.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)
1g.6473070C>GCA338134289PLEKHG5c.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)
1g.6473070C>TCA415833467PLEKHG5c.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
1g.6473071T>ACA338134301PLEKHG5c.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)
1g.6473071T>CCA338134310PLEKHG5c.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)
1g.6473071T>GCA338134315PLEKHG5c.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)
1g.6473072C>ACA338134354PLEKHG5c.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)
1g.6473072C>GCA338134357PLEKHG5c.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)
1g.6473072C>TCA338134359PLEKHG5c.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)
1g.6473073C>ACA338134364PLEKHG5c.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)
1g.6473073C>GCA338134367PLEKHG5c.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)
1g.6473073C>TCA338134368PLEKHG5c.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
1g.6473074C>ACA338134369PLEKHG5c.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)
1g.6473074C>GCA338134371PLEKHG5c.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)
1g.6473074C>TCA338134376PLEKHG5c.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)
1g.6473075delCA2642983059PLEKHG5c.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
1g.6473075A=CA1141284521PLEKHG5c.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=)
1g.6473075A>CCA561716PLEKHG5c.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
1g.6473075A>GCA338134382PLEKHG5c.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)
1g.6473075A>TCA338134380PLEKHG5c.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)
1g.6473076G>ACA415833476PLEKHG5c.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
1g.6473076G>CCA415833475PLEKHG5c.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=)
1g.6473076G>TCA415833474PLEKHG5c.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=)
1g.6473077G>ACA338134390PLEKHG5c.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
1g.6473077G>CCA338134393PLEKHG5c.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)
1g.6473077G=CA1151502981PLEKHG5c.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=)
1g.6473077G>TCA338134398PLEKHG5c.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)
1g.6473078A=CA1151502984PLEKHG5c.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=)
1g.6473078A>CCA338134403PLEKHG5c.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)
1g.6473078A>GCA338134414PLEKHG5c.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
1g.6473078A>TCA338134425PLEKHG5c.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)
1g.6473079G>ACA415833477PLEKHG5c.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=)
1g.6473079G>CCA338134429PLEKHG5c.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)
1g.6473079G>TCA338134435PLEKHG5c.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)
1g.6473080T>ACA338134439PLEKHG5c.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)
1g.6473080T>CCA561717PLEKHG5c.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
1g.6473080T>GCA338134453PLEKHG5c.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)
1g.6473080T=CA1151502990PLEKHG5c.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=)
1g.6473081C>ACA338134459PLEKHG5c.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)
1g.6473081C=CA1151502993PLEKHG5c.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=)
1g.6473081C>GCA338134462PLEKHG5c.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)
1g.6473081C>TCA338134457PLEKHG5c.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
1g.6473082A>CCA338134469PLEKHG5c.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)
1g.6473082A>GCA415833480PLEKHG5c.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=)
1g.6473082A>TCA338134474PLEKHG5c.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)
1g.6473083T>ACA338134476PLEKHG5c.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)
1g.6473083T>CCA338134477PLEKHG5c.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
1g.6473083T>GCA338134479PLEKHG5c.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)
1g.6473084G>ACA338134481PLEKHG5c.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)
1g.6473084G>CCA338134482PLEKHG5c.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)
1g.6473084G>TCA338134494PLEKHG5c.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
1g.6473085G>ACA415833481PLEKHG5c.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
1g.6473085G>CCA338134497PLEKHG5c.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)
1g.6473085G=CA1151503038PLEKHG5c.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=)
1g.6473085G>TCA338134499PLEKHG5c.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
1g.6473086T>ACA338134503PLEKHG5c.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
1g.6473086T>CCA338134505PLEKHG5c.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
1g.6473086T>GCA338134508PLEKHG5c.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)
1g.6473086T=CA1151503054PLEKHG5c.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=)
1g.6473087C>ACA338134519PLEKHG5c.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
1g.6473087C=CA1151503060PLEKHG5c.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=)
1g.6473087C>GCA561718PLEKHG5c.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)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.6473087C>TCA338134512PLEKHG5c.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
1g.6473088G>ACA561719PLEKHG5c.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
1g.6473088G>CCA338134530PLEKHG5c.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
1g.6473088G=CA1143738261PLEKHG5c.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=)
1g.6473088G>TCA338134532PLEKHG5c.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)
1g.6473089A>CCA338134535PLEKHG5c.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)
1g.6473089A>GCA338134536PLEKHG5c.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)
1g.6473089A>TCA338134541PLEKHG5c.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)
1g.6473090A>CCA338134560PLEKHG5c.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)
1g.6473090A>GCA338134547PLEKHG5c.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)
1g.6473090A>TCA338134557PLEKHG5c.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)
1g.6473090_6473092delinsAGCCA1151503071PLEKHG5c.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=)
1g.6473091G>ACA415833485PLEKHG5c.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
1g.6473091G>CCA415833487PLEKHG5c.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=)
1g.6473091G>TCA415833489PLEKHG5c.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=)
1g.6473093_6473094delCA521018846PLEKHG5c.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
1g.6473092_6473112delCA2642983115PLEKHG5c.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
1g.6473092C>ACA338134569PLEKHG5c.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)
1g.6473092C=CA1151503078PLEKHG5c.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=)
1g.6473092C>GCA338134572PLEKHG5c.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)
1g.6473092C>TCA561720PLEKHG5c.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
1g.6473093G>ACA561721PLEKHG5c.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
1g.6473093G>CCA338134573PLEKHG5c.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)
1g.6473093G=CA1144007047PLEKHG5c.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=)
1g.6473093G>TCA338134582PLEKHG5c.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)
1g.6473094C>ACA415833491PLEKHG5c.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=)
1g.6473094C>GCA415833493PLEKHG5c.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=)
1g.6473094C>TCA415833492PLEKHG5c.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=)
1g.6473095A=CA1151503086PLEKHG5c.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=)
1g.6473095A>CCA561722PLEKHG5c.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
1g.6473095A>GCA338134611PLEKHG5c.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)
1g.6473095A>TCA338134590PLEKHG5c.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)
1g.6473096G>ACA415833494PLEKHG5c.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
1g.6473096G>CCA338134627PLEKHG5c.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)
1g.6473096G>TCA338134625PLEKHG5c.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)
1g.6473096_6473097delinsGCCA1151503089PLEKHG5c.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=)
1g.6473096_6473098delCA2642983126PLEKHG5c.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
1g.6473097C>ACA415833495PLEKHG5c.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
1g.6473097C=CA1151503095PLEKHG5c.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=)
1g.6473097C>GCA561723PLEKHG5c.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
1g.6473097C>TCA415833496PLEKHG5c.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=)
1g.6473101delCA521018847PLEKHG5c.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
1g.6473098C>ACA338134628PLEKHG5c.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)
1g.6473098C=CA1151503105PLEKHG5c.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=)
1g.6473098C>GCA561724PLEKHG5c.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
1g.6473098C>TCA338134630PLEKHG5c.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)
1g.6473099C>ACA338134648PLEKHG5c.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)
1g.6473099C=CA1151503108PLEKHG5c.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=)
1g.6473099C>GCA338134654PLEKHG5c.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)
1g.6473099C>TCA561725PLEKHG5c.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
1g.6473100C>ACA415833497PLEKHG5c.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=)
1g.6473100C>GCA415833498PLEKHG5c.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=)
1g.6473100C>TCA415833499PLEKHG5c.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
1g.6473101C>ACA338134660PLEKHG5c.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)
1g.6473101C=CA1142197041PLEKHG5c.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=)
1g.6473101C>GCA338134663PLEKHG5c.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
1g.6473101C>TCA561726PLEKHG5c.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
1g.6473102G>ACA561727PLEKHG5c.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
1g.6473102G>CCA338134680PLEKHG5c.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
1g.6473102G=CA1151503120PLEKHG5c.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=)
1g.6473102G>TCA561729PLEKHG5c.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
1g.6473105dupCA2742323505PLEKHG5c.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)
1g.6473102_6473111delinsGGGGCAGCCTCA1151503123PLEKHG5c.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=)
1g.6473103G>ACA415833500PLEKHG5c.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
1g.6473103G>CCA415833501PLEKHG5c.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=)
1g.6473103G>TCA415833502PLEKHG5c.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=)
1g.6473111_6473119dupCA998178033PLEKHG5c.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
1g.6473111_6473119delCA561728PLEKHG5c.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
1g.6473104G>ACA338134698PLEKHG5c.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
1g.6473104G>CCA338134706PLEKHG5c.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)
1g.6473104G=CA1151503129PLEKHG5c.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=)
1g.6473104G>TCA338134709PLEKHG5c.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)
1g.6473104_6473105insCATGACA2642983203PLEKHG5c.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
1g.6473105G>ACA561730PLEKHG5c.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
1g.6473105G>CCA338134719PLEKHG5c.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)
1g.6473105G=CA1143912211PLEKHG5c.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=)
1g.6473105G>TCA338134721PLEKHG5c.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)
1g.6473106C>ACA415833505PLEKHG5c.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=)
1g.6473106C=CA1151503140PLEKHG5c.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=)
1g.6473106C>GCA415833507PLEKHG5c.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
1g.6473106C>TCA415833506PLEKHG5c.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=)
1g.6473107A>CCA338134740PLEKHG5c.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)
1g.6473107A>GCA338134727PLEKHG5c.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)
1g.6473107A>TCA338134733PLEKHG5c.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)
1g.6473108G>ACA415833508PLEKHG5c.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=)
1g.6473108G>CCA338134742PLEKHG5c.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
1g.6473108G=CA1151503147PLEKHG5c.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=)
1g.6473108G>TCA338134743PLEKHG5c.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)
1g.6473109C>ACA338134747PLEKHG5c.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)
1g.6473109C>GCA338134749PLEKHG5c.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
1g.6473109C>TCA415833510PLEKHG5c.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=)
1g.6473110C>ACA338134766PLEKHG5c.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)
1g.6473110C>GCA338134770PLEKHG5c.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)
1g.6473110C>TCA338134771PLEKHG5c.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)
1g.6473111T>ACA338134772PLEKHG5c.859A>T (p.Arg287Trp)
c.1033A>T (p.Arg345Trp)
c.970A>T (p.Arg324Trp)
n.1335A>T
c.1066A>T (p.Arg356Trp)
c.1156A>T (p.Arg386Trp)
c.*1071A>T (n.*1071A>T)
c.*687A>T (n.*687A>T)
c.1090A>T (p.Arg364Trp)
c.1027A>T (p.Arg343Trp)
c.1096A>T (p.Arg366Trp)
1g.6473111T>CCA338134773PLEKHG5c.859A>G (p.Arg287Gly)
c.1033A>G (p.Arg345Gly)
c.970A>G (p.Arg324Gly)
n.1335A>G
c.1066A>G (p.Arg356Gly)
c.1156A>G (p.Arg386Gly)
c.*1071A>G (n.*1071A>G)
c.*687A>G (n.*687A>G)
c.1090A>G (p.Arg364Gly)
c.1027A>G (p.Arg343Gly)
c.1096A>G (p.Arg366Gly)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
1g.6473111T>GCA415833512PLEKHG5c.859A>C (p.Arg287=)
c.1033A>C (p.Arg345=)
c.970A>C (p.Arg324=)
n.1335A>C
c.1066A>C (p.Arg356=)
c.1156A>C (p.Arg386=)
c.*1071A>C (n.*1071A>C)
c.*687A>C (n.*687A>C)
c.1090A>C (p.Arg364=)
c.1027A>C (p.Arg343=)
c.1096A>C (p.Arg366=)
1g.6473111T=CA1151503155PLEKHG5c.859A= (p.Arg287=)
c.1033A= (p.Arg345=)
c.970A= (p.Arg324=)
n.1335A=
c.1066A= (p.Arg356=)
c.1156A= (p.Arg386=)
c.*1071A= (n.*1071A=)
c.*687A= (n.*687A=)
c.1090A= (p.Arg364=)
c.1027A= (p.Arg343=)
c.1096A= (p.Arg366=)
1g.6473112G>ACA415833513PLEKHG5c.858C>T (p.Pro286=)
c.1032C>T (p.Pro344=)
c.969C>T (p.Pro323=)
n.1334C>T
c.1065C>T (p.Pro355=)
c.1155C>T (p.Pro385=)
c.*1070C>T (n.*1070C>T)
c.*686C>T (n.*686C>T)
c.1089C>T (p.Pro363=)
c.1026C>T (p.Pro342=)
c.1095C>T (p.Pro365=)
1g.6473112G>CCA415833514PLEKHG5c.858C>G (p.Pro286=)
c.1032C>G (p.Pro344=)
c.969C>G (p.Pro323=)
n.1334C>G
c.1065C>G (p.Pro355=)
c.1155C>G (p.Pro385=)
c.*1070C>G (n.*1070C>G)
c.*686C>G (n.*686C>G)
c.1089C>G (p.Pro363=)
c.1026C>G (p.Pro342=)
c.1095C>G (p.Pro365=)
 dbSNP
1g.6473112G=CA1151503161PLEKHG5c.858C= (p.Pro286=)
c.1032C= (p.Pro344=)
c.969C= (p.Pro323=)
n.1334C=
c.1065C= (p.Pro355=)
c.1155C= (p.Pro385=)
c.*1070C= (n.*1070C=)
c.*686C= (n.*686C=)
c.1089C= (p.Pro363=)
c.1026C= (p.Pro342=)
c.1095C= (p.Pro365=)
1g.6473112G>TCA415833515PLEKHG5c.858C>A (p.Pro286=)
c.1032C>A (p.Pro344=)
c.969C>A (p.Pro323=)
n.1334C>A
c.1065C>A (p.Pro355=)
c.1155C>A (p.Pro385=)
c.*1070C>A (n.*1070C>A)
c.*686C>A (n.*686C>A)
c.1089C>A (p.Pro363=)
c.1026C>A (p.Pro342=)
c.1095C>A (p.Pro365=)
1g.6473113_6473121dupCA2742323506PLEKHG5c.850_858dup (p.Pro286_Arg287insGlyLeuPro)
c.1024_1032dup (p.Pro344_Arg345insGlyLeuPro)
c.961_969dup (p.Pro323_Arg324insGlyLeuPro)
n.1326_1334dup
c.1057_1065dup (p.Pro355_Arg356insGlyLeuPro)
c.1147_1155dup (p.Pro385_Arg386insGlyLeuPro)
c.*1062_*1070dup (n.*1062_*1070dup)
c.*678_*686dup (n.*678_*686dup)
c.1081_1089dup (p.Pro363_Arg364insGlyLeuPro)
c.1018_1026dup (p.Pro342_Arg343insGlyLeuPro)
c.1087_1095dup (p.Pro365_Arg366insGlyLeuPro)
1g.6473113_6473121delCA2574195662PLEKHG5c.850_858del (p.Gly284_Pro286del)
c.1024_1032del (p.Gly342_Pro344del)
c.961_969del (p.Gly321_Pro323del)
n.1326_1334del
c.1057_1065del (p.Gly353_Pro355del)
c.1147_1155del (p.Gly383_Pro385del)
c.*1062_*1070del (n.*1062_*1070del)
c.*678_*686del (n.*678_*686del)
c.1081_1089del (p.Gly361_Pro363del)
c.1018_1026del (p.Gly340_Pro342del)
c.1087_1095del (p.Gly363_Pro365del)
1g.6473113G>ACA561731PLEKHG5c.857C>T (p.Pro286Leu)
c.1031C>T (p.Pro344Leu)
c.968C>T (p.Pro323Leu)
n.1333C>T
c.1064C>T (p.Pro355Leu)
c.1154C>T (p.Pro385Leu)
c.*1069C>T (n.*1069C>T)
c.*685C>T (n.*685C>T)
c.1088C>T (p.Pro363Leu)
c.1025C>T (p.Pro342Leu)
c.1094C>T (p.Pro365Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.6473113G>CCA338134780PLEKHG5c.857C>G (p.Pro286Arg)
c.1031C>G (p.Pro344Arg)
c.968C>G (p.Pro323Arg)
n.1333C>G
c.1064C>G (p.Pro355Arg)
c.1154C>G (p.Pro385Arg)
c.*1069C>G (n.*1069C>G)
c.*685C>G (n.*685C>G)
c.1088C>G (p.Pro363Arg)
c.1025C>G (p.Pro342Arg)
c.1094C>G (p.Pro365Arg)
1g.6473113G=CA1151503165PLEKHG5c.857C= (p.Pro286=)
c.1031C= (p.Pro344=)
c.968C= (p.Pro323=)
n.1333C=
c.1064C= (p.Pro355=)
c.1154C= (p.Pro385=)
c.*1069C= (n.*1069C=)
c.*685C= (n.*685C=)
c.1088C= (p.Pro363=)
c.1025C= (p.Pro342=)
c.1094C= (p.Pro365=)
1g.6473113G>TCA338134784PLEKHG5c.857C>A (p.Pro286His)
c.1031C>A (p.Pro344His)
c.968C>A (p.Pro323His)
n.1333C>A
c.1064C>A (p.Pro355His)
c.1154C>A (p.Pro385His)
c.*1069C>A (n.*1069C>A)
c.*685C>A (n.*685C>A)
c.1088C>A (p.Pro363His)
c.1025C>A (p.Pro342His)
c.1094C>A (p.Pro365His)
1g.6473114G>ACA338134785PLEKHG5c.856C>T (p.Pro286Ser)
c.1030C>T (p.Pro344Ser)
c.967C>T (p.Pro323Ser)
n.1332C>T
c.1063C>T (p.Pro355Ser)
c.1153C>T (p.Pro385Ser)
c.*1068C>T (n.*1068C>T)
c.*684C>T (n.*684C>T)
c.1087C>T (p.Pro363Ser)
c.1024C>T (p.Pro342Ser)
c.1093C>T (p.Pro365Ser)
1g.6473114G>CCA338134787PLEKHG5c.856C>G (p.Pro286Ala)
c.1030C>G (p.Pro344Ala)
c.967C>G (p.Pro323Ala)
n.1332C>G
c.1063C>G (p.Pro355Ala)
c.1153C>G (p.Pro385Ala)
c.*1068C>G (n.*1068C>G)
c.*684C>G (n.*684C>G)
c.1087C>G (p.Pro363Ala)
c.1024C>G (p.Pro342Ala)
c.1093C>G (p.Pro365Ala)
1g.6473114G>TCA338134786PLEKHG5c.856C>A (p.Pro286Thr)
c.1030C>A (p.Pro344Thr)
c.967C>A (p.Pro323Thr)
n.1332C>A
c.1063C>A (p.Pro355Thr)
c.1153C>A (p.Pro385Thr)
c.*1068C>A (n.*1068C>A)
c.*684C>A (n.*684C>A)
c.1087C>A (p.Pro363Thr)
c.1024C>A (p.Pro342Thr)
c.1093C>A (p.Pro365Thr)
1g.6473115C>ACA415833516PLEKHG5c.855G>T (p.Leu285=)
c.1029G>T (p.Leu343=)
c.966G>T (p.Leu322=)
n.1331G>T
c.1062G>T (p.Leu354=)
c.1152G>T (p.Leu384=)
c.*1067G>T (n.*1067G>T)
c.*683G>T (n.*683G>T)
c.1086G>T (p.Leu362=)
c.1023G>T (p.Leu341=)
c.1092G>T (p.Leu364=)
1g.6473115C>GCA415833517PLEKHG5c.855G>C (p.Leu285=)
c.1029G>C (p.Leu343=)
c.966G>C (p.Leu322=)
n.1331G>C
c.1062G>C (p.Leu354=)
c.1152G>C (p.Leu384=)
c.*1067G>C (n.*1067G>C)
c.*683G>C (n.*683G>C)
c.1086G>C (p.Leu362=)
c.1023G>C (p.Leu341=)
c.1092G>C (p.Leu364=)
1g.6473115C>TCA415833518PLEKHG5c.855G>A (p.Leu285=)
c.1029G>A (p.Leu343=)
c.966G>A (p.Leu322=)
n.1331G>A
c.1062G>A (p.Leu354=)
c.1152G>A (p.Leu384=)
c.*1067G>A (n.*1067G>A)
c.*683G>A (n.*683G>A)
c.1086G>A (p.Leu362=)
c.1023G>A (p.Leu341=)
c.1092G>A (p.Leu364=)
1g.6473116A>CCA338134790PLEKHG5c.854T>G (p.Leu285Arg)
c.1028T>G (p.Leu343Arg)
c.965T>G (p.Leu322Arg)
n.1330T>G
c.1061T>G (p.Leu354Arg)
c.1151T>G (p.Leu384Arg)
c.*1066T>G (n.*1066T>G)
c.*682T>G (n.*682T>G)
c.1085T>G (p.Leu362Arg)
c.1022T>G (p.Leu341Arg)
c.1091T>G (p.Leu364Arg)
1g.6473116A>GCA338134792PLEKHG5c.854T>C (p.Leu285Pro)
c.1028T>C (p.Leu343Pro)
c.965T>C (p.Leu322Pro)
n.1330T>C
c.1061T>C (p.Leu354Pro)
c.1151T>C (p.Leu384Pro)
c.*1066T>C (n.*1066T>C)
c.*682T>C (n.*682T>C)
c.1085T>C (p.Leu362Pro)
c.1022T>C (p.Leu341Pro)
c.1091T>C (p.Leu364Pro)
1g.6473116A>TCA338134795PLEKHG5c.854T>A (p.Leu285Gln)
c.1028T>A (p.Leu343Gln)
c.965T>A (p.Leu322Gln)
n.1330T>A
c.1061T>A (p.Leu354Gln)
c.1151T>A (p.Leu384Gln)
c.*1066T>A (n.*1066T>A)
c.*682T>A (n.*682T>A)
c.1085T>A (p.Leu362Gln)
c.1022T>A (p.Leu341Gln)
c.1091T>A (p.Leu364Gln)
1g.6473117G>ACA415833519PLEKHG5c.853C>T (p.Leu285=)
c.1027C>T (p.Leu343=)
c.964C>T (p.Leu322=)
n.1329C>T
c.1060C>T (p.Leu354=)
c.1150C>T (p.Leu384=)
c.*1065C>T (n.*1065C>T)
c.*681C>T (n.*681C>T)
c.1084C>T (p.Leu362=)
c.1021C>T (p.Leu341=)
c.1090C>T (p.Leu364=)
 gnomAD v4
1g.6473117G>CCA338134799PLEKHG5c.853C>G (p.Leu285Val)
c.1027C>G (p.Leu343Val)
c.964C>G (p.Leu322Val)
n.1329C>G
c.1060C>G (p.Leu354Val)
c.1150C>G (p.Leu384Val)
c.*1065C>G (n.*1065C>G)
c.*681C>G (n.*681C>G)
c.1084C>G (p.Leu362Val)
c.1021C>G (p.Leu341Val)
c.1090C>G (p.Leu364Val)
1g.6473117G>TCA338134802PLEKHG5c.853C>A (p.Leu285Met)
c.1027C>A (p.Leu343Met)
c.964C>A (p.Leu322Met)
n.1329C>A
c.1060C>A (p.Leu354Met)
c.1150C>A (p.Leu384Met)
c.*1065C>A (n.*1065C>A)
c.*681C>A (n.*681C>A)
c.1084C>A (p.Leu362Met)
c.1021C>A (p.Leu341Met)
c.1090C>A (p.Leu364Met)
1g.6473118C>ACA415833520PLEKHG5c.852G>T (p.Gly284=)
c.1026G>T (p.Gly342=)
c.963G>T (p.Gly321=)
n.1328G>T
c.1059G>T (p.Gly353=)
c.1149G>T (p.Gly383=)
c.*1064G>T (n.*1064G>T)
c.*680G>T (n.*680G>T)
c.1083G>T (p.Gly361=)
c.1020G>T (p.Gly340=)
c.1089G>T (p.Gly363=)
1g.6473118C=CA1151503167PLEKHG5c.852G= (p.Gly284=)
c.1026G= (p.Gly342=)
c.963G= (p.Gly321=)
n.1328G=
c.1059G= (p.Gly353=)
c.1149G= (p.Gly383=)
c.*1064G= (n.*1064G=)
c.*680G= (n.*680G=)
c.1083G= (p.Gly361=)
c.1020G= (p.Gly340=)
c.1089G= (p.Gly363=)
1g.6473118C>GCA415833521PLEKHG5c.852G>C (p.Gly284=)
c.1026G>C (p.Gly342=)
c.963G>C (p.Gly321=)
n.1328G>C
c.1059G>C (p.Gly353=)
c.1149G>C (p.Gly383=)
c.*1064G>C (n.*1064G>C)
c.*680G>C (n.*680G>C)
c.1083G>C (p.Gly361=)
c.1020G>C (p.Gly340=)
c.1089G>C (p.Gly363=)
1g.6473118C>TCA415833522PLEKHG5c.852G>A (p.Gly284=)
c.1026G>A (p.Gly342=)
c.963G>A (p.Gly321=)
n.1328G>A
c.1059G>A (p.Gly353=)
c.1149G>A (p.Gly383=)
c.*1064G>A (n.*1064G>A)
c.*680G>A (n.*680G>A)
c.1083G>A (p.Gly361=)
c.1020G>A (p.Gly340=)
c.1089G>A (p.Gly363=)
 dbSNP gnomAD v2
1g.6473119C>ACA338134806PLEKHG5c.851G>T (p.Gly284Val)
c.1025G>T (p.Gly342Val)
c.962G>T (p.Gly321Val)
n.1327G>T
c.1058G>T (p.Gly353Val)
c.1148G>T (p.Gly383Val)
c.*1063G>T (n.*1063G>T)
c.*679G>T (n.*679G>T)
c.1082G>T (p.Gly361Val)
c.1019G>T (p.Gly340Val)
c.1088G>T (p.Gly363Val)
1g.6473119C>GCA338134809PLEKHG5c.851G>C (p.Gly284Ala)
c.1025G>C (p.Gly342Ala)
c.962G>C (p.Gly321Ala)
n.1327G>C
c.1058G>C (p.Gly353Ala)
c.1148G>C (p.Gly383Ala)
c.*1063G>C (n.*1063G>C)
c.*679G>C (n.*679G>C)
c.1082G>C (p.Gly361Ala)
c.1019G>C (p.Gly340Ala)
c.1088G>C (p.Gly363Ala)
1g.6473119C>TCA338134812PLEKHG5c.851G>A (p.Gly284Glu)
c.1025G>A (p.Gly342Glu)
c.962G>A (p.Gly321Glu)
n.1327G>A
c.1058G>A (p.Gly353Glu)
c.1148G>A (p.Gly383Glu)
c.*1063G>A (n.*1063G>A)
c.*679G>A (n.*679G>A)
c.1082G>A (p.Gly361Glu)
c.1019G>A (p.Gly340Glu)
c.1088G>A (p.Gly363Glu)
1g.6473120C>ACA338134816PLEKHG5c.850G>T (p.Gly284Trp)
c.1024G>T (p.Gly342Trp)
c.961G>T (p.Gly321Trp)
n.1326G>T
c.1057G>T (p.Gly353Trp)
c.1147G>T (p.Gly383Trp)
c.*1062G>T (n.*1062G>T)
c.*678G>T (n.*678G>T)
c.1081G>T (p.Gly361Trp)
c.1018G>T (p.Gly340Trp)
c.1087G>T (p.Gly363Trp)
1g.6473120C=CA1147449084PLEKHG5c.850G= (p.Gly284=)
c.1024G= (p.Gly342=)
c.961G= (p.Gly321=)
n.1326G=
c.1057G= (p.Gly353=)
c.1147G= (p.Gly383=)
c.*1062G= (n.*1062G=)
c.*678G= (n.*678G=)
c.1081G= (p.Gly361=)
c.1018G= (p.Gly340=)
c.1087G= (p.Gly363=)
1g.6473120C>GCA338134821PLEKHG5c.850G>C (p.Gly284Arg)
c.1024G>C (p.Gly342Arg)
c.961G>C (p.Gly321Arg)
n.1326G>C
c.1057G>C (p.Gly353Arg)
c.1147G>C (p.Gly383Arg)
c.*1062G>C (n.*1062G>C)
c.*678G>C (n.*678G>C)
c.1081G>C (p.Gly361Arg)
c.1018G>C (p.Gly340Arg)
c.1087G>C (p.Gly363Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.6473120C>TCA17241935PLEKHG5c.850G>A (p.Gly284Arg)
c.1024G>A (p.Gly342Arg)
c.961G>A (p.Gly321Arg)
n.1326G>A
c.1057G>A (p.Gly353Arg)
c.1147G>A (p.Gly383Arg)
c.*1062G>A (n.*1062G>A)
c.*678G>A (n.*678G>A)
c.1081G>A (p.Gly361Arg)
c.1018G>A (p.Gly340Arg)
c.1087G>A (p.Gly363Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
1g.6473121G>ACA561732PLEKHG5c.849C>T (p.Phe283=)
c.1023C>T (p.Phe341=)
c.960C>T (p.Phe320=)
n.1325C>T
c.1056C>T (p.Phe352=)
c.1146C>T (p.Phe382=)
c.*1061C>T (n.*1061C>T)
c.*677C>T (n.*677C>T)
c.1080C>T (p.Phe360=)
c.1017C>T (p.Phe339=)
c.1086C>T (p.Phe362=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
1g.6473121G>CCA338134833PLEKHG5c.849C>G (p.Phe283Leu)
c.1023C>G (p.Phe341Leu)
c.960C>G (p.Phe320Leu)
n.1325C>G
c.1056C>G (p.Phe352Leu)
c.1146C>G (p.Phe382Leu)
c.*1061C>G (n.*1061C>G)
c.*677C>G (n.*677C>G)
c.1080C>G (p.Phe360Leu)
c.1017C>G (p.Phe339Leu)
c.1086C>G (p.Phe362Leu)
1g.6473121G=CA1151503177PLEKHG5c.849C= (p.Phe283=)
c.1023C= (p.Phe341=)
c.960C= (p.Phe320=)
n.1325C=
c.1056C= (p.Phe352=)
c.1146C= (p.Phe382=)
c.*1061C= (n.*1061C=)
c.*677C= (n.*677C=)
c.1080C= (p.Phe360=)
c.1017C= (p.Phe339=)
c.1086C= (p.Phe362=)
1g.6473121G>TCA338134829PLEKHG5c.849C>A (p.Phe283Leu)
c.1023C>A (p.Phe341Leu)
c.960C>A (p.Phe320Leu)
n.1325C>A
c.1056C>A (p.Phe352Leu)
c.1146C>A (p.Phe382Leu)
c.*1061C>A (n.*1061C>A)
c.*677C>A (n.*677C>A)
c.1080C>A (p.Phe360Leu)
c.1017C>A (p.Phe339Leu)
c.1086C>A (p.Phe362Leu)
1g.6473122A>CCA338134852PLEKHG5c.848T>G (p.Phe283Cys)
c.1022T>G (p.Phe341Cys)
c.959T>G (p.Phe320Cys)
n.1324T>G
c.1055T>G (p.Phe352Cys)
c.1145T>G (p.Phe382Cys)
c.*1060T>G (n.*1060T>G)
c.*676T>G (n.*676T>G)
c.1079T>G (p.Phe360Cys)
c.1016T>G (p.Phe339Cys)
c.1085T>G (p.Phe362Cys)
1g.6473122A>GCA338134854PLEKHG5c.848T>C (p.Phe283Ser)
c.1022T>C (p.Phe341Ser)
c.959T>C (p.Phe320Ser)
n.1324T>C
c.1055T>C (p.Phe352Ser)
c.1145T>C (p.Phe382Ser)
c.*1060T>C (n.*1060T>C)
c.*676T>C (n.*676T>C)
c.1079T>C (p.Phe360Ser)
c.1016T>C (p.Phe339Ser)
c.1085T>C (p.Phe362Ser)
1g.6473122A>TCA338134856PLEKHG5c.848T>A (p.Phe283Tyr)
c.1022T>A (p.Phe341Tyr)
c.959T>A (p.Phe320Tyr)
n.1324T>A
c.1055T>A (p.Phe352Tyr)
c.1145T>A (p.Phe382Tyr)
c.*1060T>A (n.*1060T>A)
c.*676T>A (n.*676T>A)
c.1079T>A (p.Phe360Tyr)
c.1016T>A (p.Phe339Tyr)
c.1085T>A (p.Phe362Tyr)
1g.6473123A>CCA338134861PLEKHG5c.847T>G (p.Phe283Val)
c.1021T>G (p.Phe341Val)
c.958T>G (p.Phe320Val)
n.1323T>G
c.1054T>G (p.Phe352Val)
c.1144T>G (p.Phe382Val)
c.*1059T>G (n.*1059T>G)
c.*675T>G (n.*675T>G)
c.1078T>G (p.Phe360Val)
c.1015T>G (p.Phe339Val)
c.1084T>G (p.Phe362Val)
1g.6473123A>GCA338134864PLEKHG5c.847T>C (p.Phe283Leu)
c.1021T>C (p.Phe341Leu)
c.958T>C (p.Phe320Leu)
n.1323T>C
c.1054T>C (p.Phe352Leu)
c.1144T>C (p.Phe382Leu)
c.*1059T>C (n.*1059T>C)
c.*675T>C (n.*675T>C)
c.1078T>C (p.Phe360Leu)
c.1015T>C (p.Phe339Leu)
c.1084T>C (p.Phe362Leu)
1g.6473123A>TCA338134865PLEKHG5c.847T>A (p.Phe283Ile)
c.1021T>A (p.Phe341Ile)
c.958T>A (p.Phe320Ile)
n.1323T>A
c.1054T>A (p.Phe352Ile)
c.1144T>A (p.Phe382Ile)
c.*1059T>A (n.*1059T>A)
c.*675T>A (n.*675T>A)
c.1078T>A (p.Phe360Ile)
c.1015T>A (p.Phe339Ile)
c.1084T>A (p.Phe362Ile)
1g.6473124G>ACA415833527PLEKHG5c.846C>T (p.Leu282=)
c.1020C>T (p.Leu340=)
c.957C>T (p.Leu319=)
n.1322C>T
c.1053C>T (p.Leu351=)
c.1143C>T (p.Leu381=)
c.*1058C>T (n.*1058C>T)
c.*674C>T (n.*674C>T)
c.1077C>T (p.Leu359=)
c.1014C>T (p.Leu338=)
c.1083C>T (p.Leu361=)
1g.6473124G>CCA415833528PLEKHG5c.846C>G (p.Leu282=)
c.1020C>G (p.Leu340=)
c.957C>G (p.Leu319=)
n.1322C>G
c.1053C>G (p.Leu351=)
c.1143C>G (p.Leu381=)
c.*1058C>G (n.*1058C>G)
c.*674C>G (n.*674C>G)
c.1077C>G (p.Leu359=)
c.1014C>G (p.Leu338=)
c.1083C>G (p.Leu361=)
1g.6473124G>TCA415833529PLEKHG5c.846C>A (p.Leu282=)
c.1020C>A (p.Leu340=)
c.957C>A (p.Leu319=)
n.1322C>A
c.1053C>A (p.Leu351=)
c.1143C>A (p.Leu381=)
c.*1058C>A (n.*1058C>A)
c.*674C>A (n.*674C>A)
c.1077C>A (p.Leu359=)
c.1014C>A (p.Leu338=)
c.1083C>A (p.Leu361=)
1g.6473125A>CCA338134871PLEKHG5c.845T>G (p.Leu282Arg)
c.1019T>G (p.Leu340Arg)
c.956T>G (p.Leu319Arg)
n.1321T>G
c.1052T>G (p.Leu351Arg)
c.1142T>G (p.Leu381Arg)
c.*1057T>G (n.*1057T>G)
c.*673T>G (n.*673T>G)
c.1076T>G (p.Leu359Arg)
c.1013T>G (p.Leu338Arg)
c.1082T>G (p.Leu361Arg)
1g.6473125A>GCA338134876PLEKHG5c.845T>C (p.Leu282Pro)
c.1019T>C (p.Leu340Pro)
c.956T>C (p.Leu319Pro)
n.1321T>C
c.1052T>C (p.Leu351Pro)
c.1142T>C (p.Leu381Pro)
c.*1057T>C (n.*1057T>C)
c.*673T>C (n.*673T>C)
c.1076T>C (p.Leu359Pro)
c.1013T>C (p.Leu338Pro)
c.1082T>C (p.Leu361Pro)
1g.6473125A>TCA338134880PLEKHG5c.845T>A (p.Leu282His)
c.1019T>A (p.Leu340His)
c.956T>A (p.Leu319His)
n.1321T>A
c.1052T>A (p.Leu351His)
c.1142T>A (p.Leu381His)
c.*1057T>A (n.*1057T>A)
c.*673T>A (n.*673T>A)
c.1076T>A (p.Leu359His)
c.1013T>A (p.Leu338His)
c.1082T>A (p.Leu361His)
 ClinVar dbSNP gnomAD v4
1g.6473126G>ACA338134888PLEKHG5c.844C>T (p.Leu282Phe)
c.1018C>T (p.Leu340Phe)
c.955C>T (p.Leu319Phe)
n.1320C>T
c.1051C>T (p.Leu351Phe)
c.1141C>T (p.Leu381Phe)
c.*1056C>T (n.*1056C>T)
c.*672C>T (n.*672C>T)
c.1075C>T (p.Leu359Phe)
c.1012C>T (p.Leu338Phe)
c.1081C>T (p.Leu361Phe)
1g.6473126G>CCA561733PLEKHG5c.844C>G (p.Leu282Val)
c.1018C>G (p.Leu340Val)
c.955C>G (p.Leu319Val)
n.1320C>G
c.1051C>G (p.Leu351Val)
c.1141C>G (p.Leu381Val)
c.*1056C>G (n.*1056C>G)
c.*672C>G (n.*672C>G)
c.1075C>G (p.Leu359Val)
c.1012C>G (p.Leu338Val)
c.1081C>G (p.Leu361Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.6473126G=CA1151503184PLEKHG5c.844C= (p.Leu282=)
c.1018C= (p.Leu340=)
c.955C= (p.Leu319=)
n.1320C=
c.1051C= (p.Leu351=)
c.1141C= (p.Leu381=)
c.*1056C= (n.*1056C=)
c.*672C= (n.*672C=)
c.1075C= (p.Leu359=)
c.1012C= (p.Leu338=)
c.1081C= (p.Leu361=)
1g.6473126G>TCA338134901PLEKHG5c.844C>A (p.Leu282Ile)
c.1018C>A (p.Leu340Ile)
c.955C>A (p.Leu319Ile)
n.1320C>A
c.1051C>A (p.Leu351Ile)
c.1141C>A (p.Leu381Ile)
c.*1056C>A (n.*1056C>A)
c.*672C>A (n.*672C>A)
c.1075C>A (p.Leu359Ile)
c.1012C>A (p.Leu338Ile)
c.1081C>A (p.Leu361Ile)
1g.6473127G>ACA415833531PLEKHG5c.843C>T (p.Ser281=)
c.1017C>T (p.Ser339=)
c.954C>T (p.Ser318=)
n.1319C>T
c.1050C>T (p.Ser350=)
c.1140C>T (p.Ser380=)
c.*1055C>T (n.*1055C>T)
c.*671C>T (n.*671C>T)
c.1074C>T (p.Ser358=)
c.1011C>T (p.Ser337=)
c.1080C>T (p.Ser360=)
 dbSNP gnomAD v3 gnomAD v4
1g.6473127G>CCA338134904PLEKHG5c.843C>G (p.Ser281Arg)
c.1017C>G (p.Ser339Arg)
c.954C>G (p.Ser318Arg)
n.1319C>G
c.1050C>G (p.Ser350Arg)
c.1140C>G (p.Ser380Arg)
c.*1055C>G (n.*1055C>G)
c.*671C>G (n.*671C>G)
c.1074C>G (p.Ser358Arg)
c.1011C>G (p.Ser337Arg)
c.1080C>G (p.Ser360Arg)
 gnomAD v4
1g.6473127G=CA1151503187PLEKHG5c.843C= (p.Ser281=)
c.1017C= (p.Ser339=)
c.954C= (p.Ser318=)
n.1319C=
c.1050C= (p.Ser350=)
c.1140C= (p.Ser380=)
c.*1055C= (n.*1055C=)
c.*671C= (n.*671C=)
c.1074C= (p.Ser358=)
c.1011C= (p.Ser337=)
c.1080C= (p.Ser360=)
1g.6473127G>TCA338134903PLEKHG5c.843C>A (p.Ser281Arg)
c.1017C>A (p.Ser339Arg)
c.954C>A (p.Ser318Arg)
n.1319C>A
c.1050C>A (p.Ser350Arg)
c.1140C>A (p.Ser380Arg)
c.*1055C>A (n.*1055C>A)
c.*671C>A (n.*671C>A)
c.1074C>A (p.Ser358Arg)
c.1011C>A (p.Ser337Arg)
c.1080C>A (p.Ser360Arg)
 gnomAD v4
1g.6473128C>ACA338134908PLEKHG5c.842G>T (p.Ser281Ile)
c.1016G>T (p.Ser339Ile)
c.953G>T (p.Ser318Ile)
n.1318G>T
c.1049G>T (p.Ser350Ile)
c.1139G>T (p.Ser380Ile)
c.*1054G>T (n.*1054G>T)
c.*670G>T (n.*670G>T)
c.1073G>T (p.Ser358Ile)
c.1010G>T (p.Ser337Ile)
c.1079G>T (p.Ser360Ile)
1g.6473128C=CA1151503228PLEKHG5c.842G= (p.Ser281=)
c.1016G= (p.Ser339=)
c.953G= (p.Ser318=)
n.1318G=
c.1049G= (p.Ser350=)
c.1139G= (p.Ser380=)
c.*1054G= (n.*1054G=)
c.*670G= (n.*670G=)
c.1073G= (p.Ser358=)
c.1010G= (p.Ser337=)
c.1079G= (p.Ser360=)
1g.6473128C>GCA338134909PLEKHG5c.842G>C (p.Ser281Thr)
c.1016G>C (p.Ser339Thr)
c.953G>C (p.Ser318Thr)
n.1318G>C
c.1049G>C (p.Ser350Thr)
c.1139G>C (p.Ser380Thr)
c.*1054G>C (n.*1054G>C)
c.*670G>C (n.*670G>C)
c.1073G>C (p.Ser358Thr)
c.1010G>C (p.Ser337Thr)
c.1079G>C (p.Ser360Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.6473128C>TCA17241938PLEKHG5c.842G>A (p.Ser281Asn)
c.1016G>A (p.Ser339Asn)
c.953G>A (p.Ser318Asn)
n.1318G>A
c.1049G>A (p.Ser350Asn)
c.1139G>A (p.Ser380Asn)
c.*1054G>A (n.*1054G>A)
c.*670G>A (n.*670G>A)
c.1073G>A (p.Ser358Asn)
c.1010G>A (p.Ser337Asn)
c.1079G>A (p.Ser360Asn)
 dbSNP
1g.6473129T>ACA338134910PLEKHG5c.841A>T (p.Ser281Cys)
c.1015A>T (p.Ser339Cys)
c.952A>T (p.Ser318Cys)
n.1317A>T
c.1048A>T (p.Ser350Cys)
c.1138A>T (p.Ser380Cys)
c.*1053A>T (n.*1053A>T)
c.*669A>T (n.*669A>T)
c.1072A>T (p.Ser358Cys)
c.1009A>T (p.Ser337Cys)
c.1078A>T (p.Ser360Cys)
1g.6473129T>CCA338134911PLEKHG5c.841A>G (p.Ser281Gly)
c.1015A>G (p.Ser339Gly)
c.952A>G (p.Ser318Gly)
n.1317A>G
c.1048A>G (p.Ser350Gly)
c.1138A>G (p.Ser380Gly)
c.*1053A>G (n.*1053A>G)
c.*669A>G (n.*669A>G)
c.1072A>G (p.Ser358Gly)
c.1009A>G (p.Ser337Gly)
c.1078A>G (p.Ser360Gly)
1g.6473129T>GCA338134912PLEKHG5c.841A>C (p.Ser281Arg)
c.1015A>C (p.Ser339Arg)
c.952A>C (p.Ser318Arg)
n.1317A>C
c.1048A>C (p.Ser350Arg)
c.1138A>C (p.Ser380Arg)
c.*1053A>C (n.*1053A>C)
c.*669A>C (n.*669A>C)
c.1072A>C (p.Ser358Arg)
c.1009A>C (p.Ser337Arg)
c.1078A>C (p.Ser360Arg)
1g.6473130G>ACA561734PLEKHG5c.840C>T (p.Tyr280=)
c.1014C>T (p.Tyr338=)
c.951C>T (p.Tyr317=)
n.1316C>T
c.1047C>T (p.Tyr349=)
c.1137C>T (p.Tyr379=)
c.*1052C>T (n.*1052C>T)
c.*668C>T (n.*668C>T)
c.1071C>T (p.Tyr357=)
c.1008C>T (p.Tyr336=)
c.1077C>T (p.Tyr359=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6473130G>CCA338134923PLEKHG5c.840C>G (p.Tyr280Ter)
c.1014C>G (p.Tyr338Ter)
c.951C>G (p.Tyr317Ter)
n.1316C>G
c.1047C>G (p.Tyr349Ter)
c.1137C>G (p.Tyr379Ter)
c.*1052C>G (n.*1052C>G)
c.*668C>G (n.*668C>G)
c.1071C>G (p.Tyr357Ter)
c.1008C>G (p.Tyr336Ter)
c.1077C>G (p.Tyr359Ter)
1g.6473130G=CA1151503246PLEKHG5c.840C= (p.Tyr280=)
c.1014C= (p.Tyr338=)
c.951C= (p.Tyr317=)
n.1316C=
c.1047C= (p.Tyr349=)
c.1137C= (p.Tyr379=)
c.*1052C= (n.*1052C=)
c.*668C= (n.*668C=)
c.1071C= (p.Tyr357=)
c.1008C= (p.Tyr336=)
c.1077C= (p.Tyr359=)
1g.6473130G>TCA338134920PLEKHG5c.840C>A (p.Tyr280Ter)
c.1014C>A (p.Tyr338Ter)
c.951C>A (p.Tyr317Ter)
n.1316C>A
c.1047C>A (p.Tyr349Ter)
c.1137C>A (p.Tyr379Ter)
c.*1052C>A (n.*1052C>A)
c.*668C>A (n.*668C>A)
c.1071C>A (p.Tyr357Ter)
c.1008C>A (p.Tyr336Ter)
c.1077C>A (p.Tyr359Ter)
1g.6473131T>ACA338134932PLEKHG5c.839A>T (p.Tyr280Phe)
c.1013A>T (p.Tyr338Phe)
c.950A>T (p.Tyr317Phe)
n.1315A>T
c.1046A>T (p.Tyr349Phe)
c.1136A>T (p.Tyr379Phe)
c.*1051A>T (n.*1051A>T)
c.*667A>T (n.*667A>T)
c.1070A>T (p.Tyr357Phe)
c.1007A>T (p.Tyr336Phe)
c.1076A>T (p.Tyr359Phe)
1g.6473131T>CCA338134946PLEKHG5c.839A>G (p.Tyr280Cys)
c.1013A>G (p.Tyr338Cys)
c.950A>G (p.Tyr317Cys)
n.1315A>G
c.1046A>G (p.Tyr349Cys)
c.1136A>G (p.Tyr379Cys)
c.*1051A>G (n.*1051A>G)
c.*667A>G (n.*667A>G)
c.1070A>G (p.Tyr357Cys)
c.1007A>G (p.Tyr336Cys)
c.1076A>G (p.Tyr359Cys)
1g.6473131T>GCA17241940PLEKHG5c.839A>C (p.Tyr280Ser)
c.1013A>C (p.Tyr338Ser)
c.950A>C (p.Tyr317Ser)
n.1315A>C
c.1046A>C (p.Tyr349Ser)
c.1136A>C (p.Tyr379Ser)
c.*1051A>C (n.*1051A>C)
c.*667A>C (n.*667A>C)
c.1070A>C (p.Tyr357Ser)
c.1007A>C (p.Tyr336Ser)
c.1076A>C (p.Tyr359Ser)
 dbSNP
1g.6473131T=CA1141124418PLEKHG5c.839A= (p.Tyr280=)
c.1013A= (p.Tyr338=)
c.950A= (p.Tyr317=)
n.1315A=
c.1046A= (p.Tyr349=)
c.1136A= (p.Tyr379=)
c.*1051A= (n.*1051A=)
c.*667A= (n.*667A=)
c.1070A= (p.Tyr357=)
c.1007A= (p.Tyr336=)
c.1076A= (p.Tyr359=)
1g.6473132A=CA1151503254PLEKHG5c.838T= (p.Tyr280=)
c.1012T= (p.Tyr338=)
c.949T= (p.Tyr317=)
n.1314T=
c.1045T= (p.Tyr349=)
c.1135T= (p.Tyr379=)
c.*1050T= (n.*1050T=)
c.*666T= (n.*666T=)
c.1069T= (p.Tyr357=)
c.1006T= (p.Tyr336=)
c.1075T= (p.Tyr359=)
1g.6473132A>CCA338134953PLEKHG5c.838T>G (p.Tyr280Asp)
c.1012T>G (p.Tyr338Asp)
c.949T>G (p.Tyr317Asp)
n.1314T>G
c.1045T>G (p.Tyr349Asp)
c.1135T>G (p.Tyr379Asp)
c.*1050T>G (n.*1050T>G)
c.*666T>G (n.*666T>G)
c.1069T>G (p.Tyr357Asp)
c.1006T>G (p.Tyr336Asp)
c.1075T>G (p.Tyr359Asp)
1g.6473132A>GCA338134955PLEKHG5c.838T>C (p.Tyr280His)
c.1012T>C (p.Tyr338His)
c.949T>C (p.Tyr317His)
n.1314T>C
c.1045T>C (p.Tyr349His)
c.1135T>C (p.Tyr379His)
c.*1050T>C (n.*1050T>C)
c.*666T>C (n.*666T>C)
c.1069T>C (p.Tyr357His)
c.1006T>C (p.Tyr336His)
c.1075T>C (p.Tyr359His)
 dbSNP gnomAD v3 gnomAD v4
1g.6473132A>TCA338134958PLEKHG5c.838T>A (p.Tyr280Asn)
c.1012T>A (p.Tyr338Asn)
c.949T>A (p.Tyr317Asn)
n.1314T>A
c.1045T>A (p.Tyr349Asn)
c.1135T>A (p.Tyr379Asn)
c.*1050T>A (n.*1050T>A)
c.*666T>A (n.*666T>A)
c.1069T>A (p.Tyr357Asn)
c.1006T>A (p.Tyr336Asn)
c.1075T>A (p.Tyr359Asn)
1g.6473133G>ACA415833533PLEKHG5c.837C>T (p.Thr279=)
c.1011C>T (p.Thr337=)
c.948C>T (p.Thr316=)
n.1313C>T
c.1044C>T (p.Thr348=)
c.1134C>T (p.Thr378=)
c.*1049C>T (n.*1049C>T)
c.*665C>T (n.*665C>T)
c.1068C>T (p.Thr356=)
c.1005C>T (p.Thr335=)
c.1074C>T (p.Thr358=)
1g.6473133G>CCA415833534PLEKHG5c.837C>G (p.Thr279=)
c.1011C>G (p.Thr337=)
c.948C>G (p.Thr316=)
n.1313C>G
c.1044C>G (p.Thr348=)
c.1134C>G (p.Thr378=)
c.*1049C>G (n.*1049C>G)
c.*665C>G (n.*665C>G)
c.1068C>G (p.Thr356=)
c.1005C>G (p.Thr335=)
c.1074C>G (p.Thr358=)
1g.6473133G>TCA415833535PLEKHG5c.837C>A (p.Thr279=)
c.1011C>A (p.Thr337=)
c.948C>A (p.Thr316=)
n.1313C>A
c.1044C>A (p.Thr348=)
c.1134C>A (p.Thr378=)
c.*1049C>A (n.*1049C>A)
c.*665C>A (n.*665C>A)
c.1068C>A (p.Thr356=)
c.1005C>A (p.Thr335=)
c.1074C>A (p.Thr358=)
 gnomAD v4
1g.6473134G>ACA338134959PLEKHG5c.836C>T (p.Thr279Ile)
c.1010C>T (p.Thr337Ile)
c.947C>T (p.Thr316Ile)
n.1312C>T
c.1043C>T (p.Thr348Ile)
c.1133C>T (p.Thr378Ile)
c.*1048C>T (n.*1048C>T)
c.*664C>T (n.*664C>T)
c.1067C>T (p.Thr356Ile)
c.1004C>T (p.Thr335Ile)
c.1073C>T (p.Thr358Ile)
1g.6473134G>CCA338134962PLEKHG5c.836C>G (p.Thr279Ser)
c.1010C>G (p.Thr337Ser)
c.947C>G (p.Thr316Ser)
n.1312C>G
c.1043C>G (p.Thr348Ser)
c.1133C>G (p.Thr378Ser)
c.*1048C>G (n.*1048C>G)
c.*664C>G (n.*664C>G)
c.1067C>G (p.Thr356Ser)
c.1004C>G (p.Thr335Ser)
c.1073C>G (p.Thr358Ser)
1g.6473134G>TCA338134960PLEKHG5c.836C>A (p.Thr279Asn)
c.1010C>A (p.Thr337Asn)
c.947C>A (p.Thr316Asn)
n.1312C>A
c.1043C>A (p.Thr348Asn)
c.1133C>A (p.Thr378Asn)
c.*1048C>A (n.*1048C>A)
c.*664C>A (n.*664C>A)
c.1067C>A (p.Thr356Asn)
c.1004C>A (p.Thr335Asn)
c.1073C>A (p.Thr358Asn)
1g.6473135T>ACA338134967PLEKHG5c.835A>T (p.Thr279Ser)
c.1009A>T (p.Thr337Ser)
c.946A>T (p.Thr316Ser)
n.1311A>T
c.1042A>T (p.Thr348Ser)
c.1132A>T (p.Thr378Ser)
c.*1047A>T (n.*1047A>T)
c.*663A>T (n.*663A>T)
c.1066A>T (p.Thr356Ser)
c.1003A>T (p.Thr335Ser)
c.1072A>T (p.Thr358Ser)
1g.6473135T>CCA561735PLEKHG5c.835A>G (p.Thr279Ala)
c.1009A>G (p.Thr337Ala)
c.946A>G (p.Thr316Ala)
n.1311A>G
c.1042A>G (p.Thr348Ala)
c.1132A>G (p.Thr378Ala)
c.*1047A>G (n.*1047A>G)
c.*663A>G (n.*663A>G)
c.1066A>G (p.Thr356Ala)
c.1003A>G (p.Thr335Ala)
c.1072A>G (p.Thr358Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6473135T>GCA338134974PLEKHG5c.835A>C (p.Thr279Pro)
c.1009A>C (p.Thr337Pro)
c.946A>C (p.Thr316Pro)
n.1311A>C
c.1042A>C (p.Thr348Pro)
c.1132A>C (p.Thr378Pro)
c.*1047A>C (n.*1047A>C)
c.*663A>C (n.*663A>C)
c.1066A>C (p.Thr356Pro)
c.1003A>C (p.Thr335Pro)
c.1072A>C (p.Thr358Pro)
1g.6473135T=CA1144151245PLEKHG5c.835A= (p.Thr279=)
c.1009A= (p.Thr337=)
c.946A= (p.Thr316=)
n.1311A=
c.1042A= (p.Thr348=)
c.1132A= (p.Thr378=)
c.*1047A= (n.*1047A=)
c.*663A= (n.*663A=)
c.1066A= (p.Thr356=)
c.1003A= (p.Thr335=)
c.1072A= (p.Thr358=)
1g.6473136G>ACA561736PLEKHG5c.834C>T (p.His278=)
c.1008C>T (p.His336=)
c.945C>T (p.His315=)
n.1310C>T
c.1041C>T (p.His347=)
c.1131C>T (p.His377=)
c.*1046C>T (n.*1046C>T)
c.*662C>T (n.*662C>T)
c.1065C>T (p.His355=)
c.1002C>T (p.His334=)
c.1071C>T (p.His357=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.6473136G>CCA338134979PLEKHG5c.834C>G (p.His278Gln)
c.1008C>G (p.His336Gln)
c.945C>G (p.His315Gln)
n.1310C>G
c.1041C>G (p.His347Gln)
c.1131C>G (p.His377Gln)
c.*1046C>G (n.*1046C>G)
c.*662C>G (n.*662C>G)
c.1065C>G (p.His355Gln)
c.1002C>G (p.His334Gln)
c.1071C>G (p.His357Gln)
1g.6473136G=CA1143598961PLEKHG5c.834C= (p.His278=)
c.1008C= (p.His336=)
c.945C= (p.His315=)
n.1310C=
c.1041C= (p.His347=)
c.1131C= (p.His377=)
c.*1046C= (n.*1046C=)
c.*662C= (n.*662C=)
c.1065C= (p.His355=)
c.1002C= (p.His334=)
c.1071C= (p.His357=)
1g.6473136G>TCA338134980PLEKHG5c.834C>A (p.His278Gln)
c.1008C>A (p.His336Gln)
c.945C>A (p.His315Gln)
n.1310C>A
c.1041C>A (p.His347Gln)
c.1131C>A (p.His377Gln)
c.*1046C>A (n.*1046C>A)
c.*662C>A (n.*662C>A)
c.1065C>A (p.His355Gln)
c.1002C>A (p.His334Gln)
c.1071C>A (p.His357Gln)
1g.6473137T>ACA561737PLEKHG5c.833A>T (p.His278Leu)
c.1007A>T (p.His336Leu)
c.944A>T (p.His315Leu)
n.1309A>T
c.1040A>T (p.His347Leu)
c.1130A>T (p.His377Leu)
c.*1045A>T (n.*1045A>T)
c.*661A>T (n.*661A>T)
c.1064A>T (p.His355Leu)
c.1001A>T (p.His334Leu)
c.1070A>T (p.His357Leu)
 dbSNP ExAC gnomAD v2
1g.6473137T>CCA338134983PLEKHG5c.833A>G (p.His278Arg)
c.1007A>G (p.His336Arg)
c.944A>G (p.His315Arg)
n.1309A>G
c.1040A>G (p.His347Arg)
c.1130A>G (p.His377Arg)
c.*1045A>G (n.*1045A>G)
c.*661A>G (n.*661A>G)
c.1064A>G (p.His355Arg)
c.1001A>G (p.His334Arg)
c.1070A>G (p.His357Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.6473137T>GCA338134985PLEKHG5c.833A>C (p.His278Pro)
c.1007A>C (p.His336Pro)
c.944A>C (p.His315Pro)
n.1309A>C
c.1040A>C (p.His347Pro)
c.1130A>C (p.His377Pro)
c.*1045A>C (n.*1045A>C)
c.*661A>C (n.*661A>C)
c.1064A>C (p.His355Pro)
c.1001A>C (p.His334Pro)
c.1070A>C (p.His357Pro)
1g.6473137T=CA1151503270PLEKHG5c.833A= (p.His278=)
c.1007A= (p.His336=)
c.944A= (p.His315=)
n.1309A=
c.1040A= (p.His347=)
c.1130A= (p.His377=)
c.*1045A= (n.*1045A=)
c.*661A= (n.*661A=)
c.1064A= (p.His355=)
c.1001A= (p.His334=)
c.1070A= (p.His357=)
1g.6473138G>ACA338134986PLEKHG5c.832C>T (p.His278Tyr)
c.1006C>T (p.His336Tyr)
c.943C>T (p.His315Tyr)
n.1308C>T
c.1039C>T (p.His347Tyr)
c.1129C>T (p.His377Tyr)
c.*1044C>T (n.*1044C>T)
c.*660C>T (n.*660C>T)
c.1063C>T (p.His355Tyr)
c.1000C>T (p.His334Tyr)
c.1069C>T (p.His357Tyr)
 dbSNP gnomAD v3 gnomAD v4
1g.6473138G>CCA338134987PLEKHG5c.832C>G (p.His278Asp)
c.1006C>G (p.His336Asp)
c.943C>G (p.His315Asp)
n.1308C>G
c.1039C>G (p.His347Asp)
c.1129C>G (p.His377Asp)
c.*1044C>G (n.*1044C>G)
c.*660C>G (n.*660C>G)
c.1063C>G (p.His355Asp)
c.1000C>G (p.His334Asp)
c.1069C>G (p.His357Asp)
1g.6473138G=CA1151503276PLEKHG5c.832C= (p.His278=)
c.1006C= (p.His336=)
c.943C= (p.His315=)
n.1308C=
c.1039C= (p.His347=)
c.1129C= (p.His377=)
c.*1044C= (n.*1044C=)
c.*660C= (n.*660C=)
c.1063C= (p.His355=)
c.1000C= (p.His334=)
c.1069C= (p.His357=)
1g.6473138G>TCA338134988PLEKHG5c.832C>A (p.His278Asn)
c.1006C>A (p.His336Asn)
c.943C>A (p.His315Asn)
n.1308C>A
c.1039C>A (p.His347Asn)
c.1129C>A (p.His377Asn)
c.*1044C>A (n.*1044C>A)
c.*660C>A (n.*660C>A)
c.1063C>A (p.His355Asn)
c.1000C>A (p.His334Asn)
c.1069C>A (p.His357Asn)
1g.6473139C>ACA415833542PLEKHG5c.831G>T (p.Leu277=)
c.1005G>T (p.Leu335=)
c.942G>T (p.Leu314=)
n.1307G>T
c.1038G>T (p.Leu346=)
c.1128G>T (p.Leu376=)
c.*1043G>T (n.*1043G>T)
c.*659G>T (n.*659G>T)
c.1062G>T (p.Leu354=)
c.999G>T (p.Leu333=)
c.1068G>T (p.Leu356=)
1g.6473139C>GCA415833540PLEKHG5c.831G>C (p.Leu277=)
c.1005G>C (p.Leu335=)
c.942G>C (p.Leu314=)
n.1307G>C
c.1038G>C (p.Leu346=)
c.1128G>C (p.Leu376=)
c.*1043G>C (n.*1043G>C)
c.*659G>C (n.*659G>C)
c.1062G>C (p.Leu354=)
c.999G>C (p.Leu333=)
c.1068G>C (p.Leu356=)
1g.6473139C>TCA415833539PLEKHG5c.831G>A (p.Leu277=)
c.1005G>A (p.Leu335=)
c.942G>A (p.Leu314=)
n.1307G>A
c.1038G>A (p.Leu346=)
c.1128G>A (p.Leu376=)
c.*1043G>A (n.*1043G>A)
c.*659G>A (n.*659G>A)
c.1062G>A (p.Leu354=)
c.999G>A (p.Leu333=)
c.1068G>A (p.Leu356=)
1g.6473140A>CCA338134996PLEKHG5c.830T>G (p.Leu277Arg)
c.1004T>G (p.Leu335Arg)
c.941T>G (p.Leu314Arg)
n.1306T>G
c.1037T>G (p.Leu346Arg)
c.1127T>G (p.Leu376Arg)
c.*1042T>G (n.*1042T>G)
c.*658T>G (n.*658T>G)
c.1061T>G (p.Leu354Arg)
c.998T>G (p.Leu333Arg)
c.1067T>G (p.Leu356Arg)
1g.6473140A>GCA338135015PLEKHG5c.830T>C (p.Leu277Pro)
c.1004T>C (p.Leu335Pro)
c.941T>C (p.Leu314Pro)
n.1306T>C
c.1037T>C (p.Leu346Pro)
c.1127T>C (p.Leu376Pro)
c.*1042T>C (n.*1042T>C)
c.*658T>C (n.*658T>C)
c.1061T>C (p.Leu354Pro)
c.998T>C (p.Leu333Pro)
c.1067T>C (p.Leu356Pro)
1g.6473140A>TCA338135010PLEKHG5c.830T>A (p.Leu277Gln)
c.1004T>A (p.Leu335Gln)
c.941T>A (p.Leu314Gln)
n.1306T>A
c.1037T>A (p.Leu346Gln)
c.1127T>A (p.Leu376Gln)
c.*1042T>A (n.*1042T>A)
c.*658T>A (n.*658T>A)
c.1061T>A (p.Leu354Gln)
c.998T>A (p.Leu333Gln)
c.1067T>A (p.Leu356Gln)
1g.6473141G>ACA415833543PLEKHG5c.829C>T (p.Leu277=)
c.1003C>T (p.Leu335=)
c.940C>T (p.Leu314=)
n.1305C>T
c.1036C>T (p.Leu346=)
c.1126C>T (p.Leu376=)
c.*1041C>T (n.*1041C>T)
c.*657C>T (n.*657C>T)
c.1060C>T (p.Leu354=)
c.997C>T (p.Leu333=)
c.1066C>T (p.Leu356=)
1g.6473141G>CCA338135023PLEKHG5c.829C>G (p.Leu277Val)
c.1003C>G (p.Leu335Val)
c.940C>G (p.Leu314Val)
n.1305C>G
c.1036C>G (p.Leu346Val)
c.1126C>G (p.Leu376Val)
c.*1041C>G (n.*1041C>G)
c.*657C>G (n.*657C>G)
c.1060C>G (p.Leu354Val)
c.997C>G (p.Leu333Val)
c.1066C>G (p.Leu356Val)
1g.6473141G>TCA338135029PLEKHG5c.829C>A (p.Leu277Met)
c.1003C>A (p.Leu335Met)
c.940C>A (p.Leu314Met)
n.1305C>A
c.1036C>A (p.Leu346Met)
c.1126C>A (p.Leu376Met)
c.*1041C>A (n.*1041C>A)
c.*657C>A (n.*657C>A)
c.1060C>A (p.Leu354Met)
c.997C>A (p.Leu333Met)
c.1066C>A (p.Leu356Met)
1g.6473142C>ACA338135035PLEKHG5c.828G>T (p.Lys276Asn)
c.1002G>T (p.Lys334Asn)
c.939G>T (p.Lys313Asn)
n.1304G>T
c.1035G>T (p.Lys345Asn)
c.1125G>T (p.Lys375Asn)
c.*1040G>T (n.*1040G>T)
c.*656G>T (n.*656G>T)
c.1059G>T (p.Lys353Asn)
c.996G>T (p.Lys332Asn)
c.1065G>T (p.Lys355Asn)
1g.6473142C>GCA338135037PLEKHG5c.828G>C (p.Lys276Asn)
c.1002G>C (p.Lys334Asn)
c.939G>C (p.Lys313Asn)
n.1304G>C
c.1035G>C (p.Lys345Asn)
c.1125G>C (p.Lys375Asn)
c.*1040G>C (n.*1040G>C)
c.*656G>C (n.*656G>C)
c.1059G>C (p.Lys353Asn)
c.996G>C (p.Lys332Asn)
c.1065G>C (p.Lys355Asn)
1g.6473142C>TCA415833544PLEKHG5c.828G>A (p.Lys276=)
c.1002G>A (p.Lys334=)
c.939G>A (p.Lys313=)
n.1304G>A
c.1035G>A (p.Lys345=)
c.1125G>A (p.Lys375=)
c.*1040G>A (n.*1040G>A)
c.*656G>A (n.*656G>A)
c.1059G>A (p.Lys353=)
c.996G>A (p.Lys332=)
c.1065G>A (p.Lys355=)
1g.6473143T>ACA338135042PLEKHG5c.827A>T (p.Lys276Met)
c.1001A>T (p.Lys334Met)
c.938A>T (p.Lys313Met)
n.1303A>T
c.1034A>T (p.Lys345Met)
c.1124A>T (p.Lys375Met)
c.*1039A>T (n.*1039A>T)
c.*655A>T (n.*655A>T)
c.1058A>T (p.Lys353Met)
c.995A>T (p.Lys332Met)
c.1064A>T (p.Lys355Met)
1g.6473143T>CCA338135056PLEKHG5c.827A>G (p.Lys276Arg)
c.1001A>G (p.Lys334Arg)
c.938A>G (p.Lys313Arg)
n.1303A>G
c.1034A>G (p.Lys345Arg)
c.1124A>G (p.Lys375Arg)
c.*1039A>G (n.*1039A>G)
c.*655A>G (n.*655A>G)
c.1058A>G (p.Lys353Arg)
c.995A>G (p.Lys332Arg)
c.1064A>G (p.Lys355Arg)
1g.6473143T>GCA338135065PLEKHG5c.827A>C (p.Lys276Thr)
c.1001A>C (p.Lys334Thr)
c.938A>C (p.Lys313Thr)
n.1303A>C
c.1034A>C (p.Lys345Thr)
c.1124A>C (p.Lys375Thr)
c.*1039A>C (n.*1039A>C)
c.*655A>C (n.*655A>C)
c.1058A>C (p.Lys353Thr)
c.995A>C (p.Lys332Thr)
c.1064A>C (p.Lys355Thr)
1g.6473144T>ACA338135068PLEKHG5c.826A>T (p.Lys276Ter)
c.1000A>T (p.Lys334Ter)
c.937A>T (p.Lys313Ter)
n.1302A>T
c.1033A>T (p.Lys345Ter)
c.1123A>T (p.Lys375Ter)
c.*1038A>T (n.*1038A>T)
c.*654A>T (n.*654A>T)
c.1057A>T (p.Lys353Ter)
c.994A>T (p.Lys332Ter)
c.1063A>T (p.Lys355Ter)
1g.6473144T>CCA338135074PLEKHG5c.826A>G (p.Lys276Glu)
c.1000A>G (p.Lys334Glu)
c.937A>G (p.Lys313Glu)
n.1302A>G
c.1033A>G (p.Lys345Glu)
c.1123A>G (p.Lys375Glu)
c.*1038A>G (n.*1038A>G)
c.*654A>G (n.*654A>G)
c.1057A>G (p.Lys353Glu)
c.994A>G (p.Lys332Glu)
c.1063A>G (p.Lys355Glu)
1g.6473144T>GCA338135078PLEKHG5c.826A>C (p.Lys276Gln)
c.1000A>C (p.Lys334Gln)
c.937A>C (p.Lys313Gln)
n.1302A>C
c.1033A>C (p.Lys345Gln)
c.1123A>C (p.Lys375Gln)
c.*1038A>C (n.*1038A>C)
c.*654A>C (n.*654A>C)
c.1057A>C (p.Lys353Gln)
c.994A>C (p.Lys332Gln)
c.1063A>C (p.Lys355Gln)
 ClinVar dbSNP
1g.6473144T=CA1151503282PLEKHG5c.826A= (p.Lys276=)
c.1000A= (p.Lys334=)
c.937A= (p.Lys313=)
n.1302A=
c.1033A= (p.Lys345=)
c.1123A= (p.Lys375=)
c.*1038A= (n.*1038A=)
c.*654A= (n.*654A=)
c.1057A= (p.Lys353=)
c.994A= (p.Lys332=)
c.1063A= (p.Lys355=)
1g.6473145G>ACA415833546PLEKHG5c.825C>T (p.Gly275=)
c.999C>T (p.Gly333=)
c.936C>T (p.Gly312=)
n.1301C>T
c.1032C>T (p.Gly344=)
c.1122C>T (p.Gly374=)
c.*1037C>T (n.*1037C>T)
c.*653C>T (n.*653C>T)
c.1056C>T (p.Gly352=)
c.993C>T (p.Gly331=)
c.1062C>T (p.Gly354=)
1g.6473145G>CCA415833547PLEKHG5c.825C>G (p.Gly275=)
c.999C>G (p.Gly333=)
c.936C>G (p.Gly312=)
n.1301C>G
c.1032C>G (p.Gly344=)
c.1122C>G (p.Gly374=)
c.*1037C>G (n.*1037C>G)
c.*653C>G (n.*653C>G)
c.1056C>G (p.Gly352=)
c.993C>G (p.Gly331=)
c.1062C>G (p.Gly354=)
1g.6473145G>TCA415833548PLEKHG5c.825C>A (p.Gly275=)
c.999C>A (p.Gly333=)
c.936C>A (p.Gly312=)
n.1301C>A
c.1032C>A (p.Gly344=)
c.1122C>A (p.Gly374=)
c.*1037C>A (n.*1037C>A)
c.*653C>A (n.*653C>A)
c.1056C>A (p.Gly352=)
c.993C>A (p.Gly331=)
c.1062C>A (p.Gly354=)
1g.6473146C>ACA338135079PLEKHG5c.824G>T (p.Gly275Val)
c.998G>T (p.Gly333Val)
c.935G>T (p.Gly312Val)
n.1300G>T
c.1031G>T (p.Gly344Val)
c.1121G>T (p.Gly374Val)
c.*1036G>T (n.*1036G>T)
c.*652G>T (n.*652G>T)
c.1055G>T (p.Gly352Val)
c.992G>T (p.Gly331Val)
c.1061G>T (p.Gly354Val)
1g.6473146C=CA1151503286PLEKHG5c.824G= (p.Gly275=)
c.998G= (p.Gly333=)
c.935G= (p.Gly312=)
n.1300G=
c.1031G= (p.Gly344=)
c.1121G= (p.Gly374=)
c.*1036G= (n.*1036G=)
c.*652G= (n.*652G=)
c.1055G= (p.Gly352=)
c.992G= (p.Gly331=)
c.1061G= (p.Gly354=)
1g.6473146C>GCA338135080PLEKHG5c.824G>C (p.Gly275Ala)
c.998G>C (p.Gly333Ala)
c.935G>C (p.Gly312Ala)
n.1300G>C
c.1031G>C (p.Gly344Ala)
c.1121G>C (p.Gly374Ala)
c.*1036G>C (n.*1036G>C)
c.*652G>C (n.*652G>C)
c.1055G>C (p.Gly352Ala)
c.992G>C (p.Gly331Ala)
c.1061G>C (p.Gly354Ala)
1g.6473146C>TCA338135081PLEKHG5c.824G>A (p.Gly275Asp)
c.998G>A (p.Gly333Asp)
c.935G>A (p.Gly312Asp)
n.1300G>A
c.1031G>A (p.Gly344Asp)
c.1121G>A (p.Gly374Asp)
c.*1036G>A (n.*1036G>A)
c.*652G>A (n.*652G>A)
c.1055G>A (p.Gly352Asp)
c.992G>A (p.Gly331Asp)
c.1061G>A (p.Gly354Asp)
 dbSNP gnomAD v2
1g.6473147C>ACA338135083PLEKHG5c.823G>T (p.Gly275Cys)
c.997G>T (p.Gly333Cys)
c.934G>T (p.Gly312Cys)
n.1299G>T
c.1030G>T (p.Gly344Cys)
c.1120G>T (p.Gly374Cys)
c.*1035G>T (n.*1035G>T)
c.*651G>T (n.*651G>T)
c.1054G>T (p.Gly352Cys)
c.991G>T (p.Gly331Cys)
c.1060G>T (p.Gly354Cys)
 COSMIC COSMIC COSMIC
1g.6473147C=CA1143471405PLEKHG5c.823G= (p.Gly275=)
c.997G= (p.Gly333=)
c.934G= (p.Gly312=)
n.1299G=
c.1030G= (p.Gly344=)
c.1120G= (p.Gly374=)
c.*1035G= (n.*1035G=)
c.*651G= (n.*651G=)
c.1054G= (p.Gly352=)
c.991G= (p.Gly331=)
c.1060G= (p.Gly354=)
1g.6473147C>GCA338135082PLEKHG5c.823G>C (p.Gly275Arg)
c.997G>C (p.Gly333Arg)
c.934G>C (p.Gly312Arg)
n.1299G>C
c.1030G>C (p.Gly344Arg)
c.1120G>C (p.Gly374Arg)
c.*1035G>C (n.*1035G>C)
c.*651G>C (n.*651G>C)
c.1054G>C (p.Gly352Arg)
c.991G>C (p.Gly331Arg)
c.1060G>C (p.Gly354Arg)
1g.6473147C>TCA561738PLEKHG5c.823G>A (p.Gly275Ser)
c.997G>A (p.Gly333Ser)
c.934G>A (p.Gly312Ser)
n.1299G>A
c.1030G>A (p.Gly344Ser)
c.1120G>A (p.Gly374Ser)
c.*1035G>A (n.*1035G>A)
c.*651G>A (n.*651G>A)
c.1054G>A (p.Gly352Ser)
c.991G>A (p.Gly331Ser)
c.1060G>A (p.Gly354Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.6473148C>ACA338135087PLEKHG5c.822G>T (p.Glu274Asp)
c.996G>T (p.Glu332Asp)
c.933G>T (p.Glu311Asp)
n.1298G>T
c.1029G>T (p.Glu343Asp)
c.1119G>T (p.Glu373Asp)
c.*1034G>T (n.*1034G>T)
c.*650G>T (n.*650G>T)
c.1053G>T (p.Glu351Asp)
c.990G>T (p.Glu330Asp)
c.1059G>T (p.Glu353Asp)
1g.6473148C>GCA338135088PLEKHG5c.822G>C (p.Glu274Asp)
c.996G>C (p.Glu332Asp)
c.933G>C (p.Glu311Asp)
n.1298G>C
c.1029G>C (p.Glu343Asp)
c.1119G>C (p.Glu373Asp)
c.*1034G>C (n.*1034G>C)
c.*650G>C (n.*650G>C)
c.1053G>C (p.Glu351Asp)
c.990G>C (p.Glu330Asp)
c.1059G>C (p.Glu353Asp)
1g.6473148C>TCA415833550PLEKHG5c.822G>A (p.Glu274=)
c.996G>A (p.Glu332=)
c.933G>A (p.Glu311=)
n.1298G>A
c.1029G>A (p.Glu343=)
c.1119G>A (p.Glu373=)
c.*1034G>A (n.*1034G>A)
c.*650G>A (n.*650G>A)
c.1053G>A (p.Glu351=)
c.990G>A (p.Glu330=)
c.1059G>A (p.Glu353=)
1g.6473153_6473161delCA2642983280PLEKHG5c.814_822del (p.Gln272_Glu274del)
c.988_996del (p.Gln330_Glu332del)
c.925_933del (p.Gln309_Glu311del)
n.1290_1298del
c.1021_1029del (p.Gln341_Glu343del)
c.1111_1119del (p.Gln371_Glu373del)
c.*1026_*1034del (n.*1026_*1034del)
c.*642_*650del (n.*642_*650del)
c.1045_1053del (p.Gln349_Glu351del)
c.982_990del (p.Gln328_Glu330del)
c.1051_1059del (p.Gln351_Glu353del)
 gnomAD v4
1g.6473149T>ACA338135094PLEKHG5c.821A>T (p.Glu274Val)
c.995A>T (p.Glu332Val)
c.932A>T (p.Glu311Val)
n.1297A>T
c.1028A>T (p.Glu343Val)
c.1118A>T (p.Glu373Val)
c.*1033A>T (n.*1033A>T)
c.*649A>T (n.*649A>T)
c.1052A>T (p.Glu351Val)
c.989A>T (p.Glu330Val)
c.1058A>T (p.Glu353Val)
1g.6473149T>CCA338135101PLEKHG5c.821A>G (p.Glu274Gly)
c.995A>G (p.Glu332Gly)
c.932A>G (p.Glu311Gly)
n.1297A>G
c.1028A>G (p.Glu343Gly)
c.1118A>G (p.Glu373Gly)
c.*1033A>G (n.*1033A>G)
c.*649A>G (n.*649A>G)
c.1052A>G (p.Glu351Gly)
c.989A>G (p.Glu330Gly)
c.1058A>G (p.Glu353Gly)
1g.6473149T>GCA338135104PLEKHG5c.821A>C (p.Glu274Ala)
c.995A>C (p.Glu332Ala)
c.932A>C (p.Glu311Ala)
n.1297A>C
c.1028A>C (p.Glu343Ala)
c.1118A>C (p.Glu373Ala)
c.*1033A>C (n.*1033A>C)
c.*649A>C (n.*649A>C)
c.1052A>C (p.Glu351Ala)
c.989A>C (p.Glu330Ala)
c.1058A>C (p.Glu353Ala)
1g.6473150C>ACA338135108PLEKHG5c.820G>T (p.Glu274Ter)
c.994G>T (p.Glu332Ter)
c.931G>T (p.Glu311Ter)
n.1296G>T
c.1027G>T (p.Glu343Ter)
c.1117G>T (p.Glu373Ter)
c.*1032G>T (n.*1032G>T)
c.*648G>T (n.*648G>T)
c.1051G>T (p.Glu351Ter)
c.988G>T (p.Glu330Ter)
c.1057G>T (p.Glu353Ter)
1g.6473150C>GCA338135109PLEKHG5c.820G>C (p.Glu274Gln)
c.994G>C (p.Glu332Gln)
c.931G>C (p.Glu311Gln)
n.1296G>C
c.1027G>C (p.Glu343Gln)
c.1117G>C (p.Glu373Gln)
c.*1032G>C (n.*1032G>C)
c.*648G>C (n.*648G>C)
c.1051G>C (p.Glu351Gln)
c.988G>C (p.Glu330Gln)
c.1057G>C (p.Glu353Gln)
1g.6473150C>TCA338135110PLEKHG5c.820G>A (p.Glu274Lys)
c.994G>A (p.Glu332Lys)
c.931G>A (p.Glu311Lys)
n.1296G>A
c.1027G>A (p.Glu343Lys)
c.1117G>A (p.Glu373Lys)
c.*1032G>A (n.*1032G>A)
c.*648G>A (n.*648G>A)
c.1051G>A (p.Glu351Lys)
c.988G>A (p.Glu330Lys)
c.1057G>A (p.Glu353Lys)
1g.6473151C>ACA415833553PLEKHG5c.819G>T (p.Leu273=)
c.993G>T (p.Leu331=)
c.930G>T (p.Leu310=)
n.1295G>T
c.1026G>T (p.Leu342=)
c.1116G>T (p.Leu372=)
c.*1031G>T (n.*1031G>T)
c.*647G>T (n.*647G>T)
c.1050G>T (p.Leu350=)
c.987G>T (p.Leu329=)
c.1056G>T (p.Leu352=)
1g.6473151C=CA1151503291PLEKHG5c.819G= (p.Leu273=)
c.993G= (p.Leu331=)
c.930G= (p.Leu310=)
n.1295G=
c.1026G= (p.Leu342=)
c.1116G= (p.Leu372=)
c.*1031G= (n.*1031G=)
c.*647G= (n.*647G=)
c.1050G= (p.Leu350=)
c.987G= (p.Leu329=)
c.1056G= (p.Leu352=)
1g.6473151C>GCA415833554PLEKHG5c.819G>C (p.Leu273=)
c.993G>C (p.Leu331=)
c.930G>C (p.Leu310=)
n.1295G>C
c.1026G>C (p.Leu342=)
c.1116G>C (p.Leu372=)
c.*1031G>C (n.*1031G>C)
c.*647G>C (n.*647G>C)
c.1050G>C (p.Leu350=)
c.987G>C (p.Leu329=)
c.1056G>C (p.Leu352=)
1g.6473151C>TCA561739PLEKHG5c.819G>A (p.Leu273=)
c.993G>A (p.Leu331=)
c.930G>A (p.Leu310=)
n.1295G>A
c.1026G>A (p.Leu342=)
c.1116G>A (p.Leu372=)
c.*1031G>A (n.*1031G>A)
c.*647G>A (n.*647G>A)
c.1050G>A (p.Leu350=)
c.987G>A (p.Leu329=)
c.1056G>A (p.Leu352=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.6473152A>CCA338135122PLEKHG5c.818T>G (p.Leu273Arg)
c.992T>G (p.Leu331Arg)
c.929T>G (p.Leu310Arg)
n.1294T>G
c.1025T>G (p.Leu342Arg)
c.1115T>G (p.Leu372Arg)
c.*1030T>G (n.*1030T>G)
c.*646T>G (n.*646T>G)
c.1049T>G (p.Leu350Arg)
c.986T>G (p.Leu329Arg)
c.1055T>G (p.Leu352Arg)
1g.6473152A>GCA338135124PLEKHG5c.818T>C (p.Leu273Pro)
c.992T>C (p.Leu331Pro)
c.929T>C (p.Leu310Pro)
n.1294T>C
c.1025T>C (p.Leu342Pro)
c.1115T>C (p.Leu372Pro)
c.*1030T>C (n.*1030T>C)
c.*646T>C (n.*646T>C)
c.1049T>C (p.Leu350Pro)
c.986T>C (p.Leu329Pro)
c.1055T>C (p.Leu352Pro)
1g.6473152A>TCA338135127PLEKHG5c.818T>A (p.Leu273Gln)
c.992T>A (p.Leu331Gln)
c.929T>A (p.Leu310Gln)
n.1294T>A
c.1025T>A (p.Leu342Gln)
c.1115T>A (p.Leu372Gln)
c.*1030T>A (n.*1030T>A)
c.*646T>A (n.*646T>A)
c.1049T>A (p.Leu350Gln)
c.986T>A (p.Leu329Gln)
c.1055T>A (p.Leu352Gln)
1g.6473153G>ACA415833555PLEKHG5c.817C>T (p.Leu273=)
c.991C>T (p.Leu331=)
c.928C>T (p.Leu310=)
n.1293C>T
c.1024C>T (p.Leu342=)
c.1114C>T (p.Leu372=)
c.*1029C>T (n.*1029C>T)
c.*645C>T (n.*645C>T)
c.1048C>T (p.Leu350=)
c.985C>T (p.Leu329=)
c.1054C>T (p.Leu352=)
1g.6473153G>CCA338135134PLEKHG5c.817C>G (p.Leu273Val)
c.991C>G (p.Leu331Val)
c.928C>G (p.Leu310Val)
n.1293C>G
c.1024C>G (p.Leu342Val)
c.1114C>G (p.Leu372Val)
c.*1029C>G (n.*1029C>G)
c.*645C>G (n.*645C>G)
c.1048C>G (p.Leu350Val)
c.985C>G (p.Leu329Val)
c.1054C>G (p.Leu352Val)
1g.6473153G>TCA338135142PLEKHG5c.817C>A (p.Leu273Met)
c.991C>A (p.Leu331Met)
c.928C>A (p.Leu310Met)
n.1293C>A
c.1024C>A (p.Leu342Met)
c.1114C>A (p.Leu372Met)
c.*1029C>A (n.*1029C>A)
c.*645C>A (n.*645C>A)
c.1048C>A (p.Leu350Met)
c.985C>A (p.Leu329Met)
c.1054C>A (p.Leu352Met)
1g.6473154C>ACA338135151PLEKHG5c.816G>T (p.Gln272His)
c.990G>T (p.Gln330His)
c.927G>T (p.Gln309His)
n.1292G>T
c.1023G>T (p.Gln341His)
c.1113G>T (p.Gln371His)
c.*1028G>T (n.*1028G>T)
c.*644G>T (n.*644G>T)
c.1047G>T (p.Gln349His)
c.984G>T (p.Gln328His)
c.1053G>T (p.Gln351His)
 COSMIC COSMIC COSMIC
1g.6473154C>GCA338135158PLEKHG5c.816G>C (p.Gln272His)
c.990G>C (p.Gln330His)
c.927G>C (p.Gln309His)
n.1292G>C
c.1023G>C (p.Gln341His)
c.1113G>C (p.Gln371His)
c.*1028G>C (n.*1028G>C)
c.*644G>C (n.*644G>C)
c.1047G>C (p.Gln349His)
c.984G>C (p.Gln328His)
c.1053G>C (p.Gln351His)
1g.6473154C>TCA415833559PLEKHG5c.816G>A (p.Gln272=)
c.990G>A (p.Gln330=)
c.927G>A (p.Gln309=)
n.1292G>A
c.1023G>A (p.Gln341=)
c.1113G>A (p.Gln371=)
c.*1028G>A (n.*1028G>A)
c.*644G>A (n.*644G>A)
c.1047G>A (p.Gln349=)
c.984G>A (p.Gln328=)
c.1053G>A (p.Gln351=)

Number of alleles fetched