Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.6472523T>A | CA520765912 | PLEKHG5 | c.1080+4A>T (n.1080+4A>T) c.1254+4A>T (n.1254+4A>T) c.1191+4A>T (n.1191+4A>T) n.1556+4A>T c.1287+4A>T (n.1287+4A>T) c.1377+4A>T (n.1377+4A>T) c.*1292+4A>T (n.*1292+4A>T) c.*908+4A>T (n.*908+4A>T) c.1311+4A>T (n.1311+4A>T) c.1248+4A>T (n.1248+4A>T) c.1317+4A>T (n.1317+4A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6472523T>C | CA2642981445 | PLEKHG5 | c.1080+4A>G (n.1080+4A>G) c.1254+4A>G (n.1254+4A>G) c.1191+4A>G (n.1191+4A>G) n.1556+4A>G c.1287+4A>G (n.1287+4A>G) c.1377+4A>G (n.1377+4A>G) c.*1292+4A>G (n.*1292+4A>G) c.*908+4A>G (n.*908+4A>G) c.1311+4A>G (n.1311+4A>G) c.1248+4A>G (n.1248+4A>G) c.1317+4A>G (n.1317+4A>G) | gnomAD v4 |
1 | g.6472523T= | CA1151501862 | PLEKHG5 | c.1080+4A= (n.1080+4A=) c.1254+4A= (n.1254+4A=) c.1191+4A= (n.1191+4A=) n.1556+4A= c.1287+4A= (n.1287+4A=) c.1377+4A= (n.1377+4A=) c.*1292+4A= (n.*1292+4A=) c.*908+4A= (n.*908+4A=) c.1311+4A= (n.1311+4A=) c.1248+4A= (n.1248+4A=) c.1317+4A= (n.1317+4A=) | |
1 | g.6472524C= | CA1151501865 | PLEKHG5 | c.1080+3G= (n.1080+3G=) c.1254+3G= (n.1254+3G=) c.1191+3G= (n.1191+3G=) n.1556+3G= c.1287+3G= (n.1287+3G=) c.1377+3G= (n.1377+3G=) c.*1292+3G= (n.*1292+3G=) c.*908+3G= (n.*908+3G=) c.1311+3G= (n.1311+3G=) c.1248+3G= (n.1248+3G=) c.1317+3G= (n.1317+3G=) | |
1 | g.6472524C>G | CA1151501870 | PLEKHG5 | c.1080+3G>C (n.1080+3G>C) c.1254+3G>C (n.1254+3G>C) c.1191+3G>C (n.1191+3G>C) n.1556+3G>C c.1287+3G>C (n.1287+3G>C) c.1377+3G>C (n.1377+3G>C) c.*1292+3G>C (n.*1292+3G>C) c.*908+3G>C (n.*908+3G>C) c.1311+3G>C (n.1311+3G>C) c.1248+3G>C (n.1248+3G>C) c.1317+3G>C (n.1317+3G>C) | dbSNP |
1 | g.6472524C>T | CA520765913 | PLEKHG5 | c.1080+3G>A (n.1080+3G>A) c.1254+3G>A (n.1254+3G>A) c.1191+3G>A (n.1191+3G>A) n.1556+3G>A c.1287+3G>A (n.1287+3G>A) c.1377+3G>A (n.1377+3G>A) c.*1292+3G>A (n.*1292+3G>A) c.*908+3G>A (n.*908+3G>A) c.1311+3G>A (n.1311+3G>A) c.1248+3G>A (n.1248+3G>A) c.1317+3G>A (n.1317+3G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6472525A>C | CA338132425 | PLEKHG5 | c.1080+2T>G (n.1080+2T>G) c.1254+2T>G (n.1254+2T>G) c.1191+2T>G (n.1191+2T>G) n.1556+2T>G c.1287+2T>G (n.1287+2T>G) c.1377+2T>G (n.1377+2T>G) c.*1292+2T>G (n.*1292+2T>G) c.*908+2T>G (n.*908+2T>G) c.1311+2T>G (n.1311+2T>G) c.1248+2T>G (n.1248+2T>G) c.1317+2T>G (n.1317+2T>G) | |
1 | g.6472525A>G | CA338132428 | PLEKHG5 | c.1080+2T>C (n.1080+2T>C) c.1254+2T>C (n.1254+2T>C) c.1191+2T>C (n.1191+2T>C) n.1556+2T>C c.1287+2T>C (n.1287+2T>C) c.1377+2T>C (n.1377+2T>C) c.*1292+2T>C (n.*1292+2T>C) c.*908+2T>C (n.*908+2T>C) c.1311+2T>C (n.1311+2T>C) c.1248+2T>C (n.1248+2T>C) c.1317+2T>C (n.1317+2T>C) | |
1 | g.6472525A>T | CA338132430 | PLEKHG5 | c.1080+2T>A (n.1080+2T>A) c.1254+2T>A (n.1254+2T>A) c.1191+2T>A (n.1191+2T>A) n.1556+2T>A c.1287+2T>A (n.1287+2T>A) c.1377+2T>A (n.1377+2T>A) c.*1292+2T>A (n.*1292+2T>A) c.*908+2T>A (n.*908+2T>A) c.1311+2T>A (n.1311+2T>A) c.1248+2T>A (n.1248+2T>A) c.1317+2T>A (n.1317+2T>A) | |
1 | g.6472526C>A | CA338132436 | PLEKHG5 | c.1080+1G>T (n.1080+1G>T) c.1254+1G>T (n.1254+1G>T) c.1191+1G>T (n.1191+1G>T) n.1556+1G>T c.1287+1G>T (n.1287+1G>T) c.1377+1G>T (n.1377+1G>T) c.*1292+1G>T (n.*1292+1G>T) c.*908+1G>T (n.*908+1G>T) c.1311+1G>T (n.1311+1G>T) c.1248+1G>T (n.1248+1G>T) c.1317+1G>T (n.1317+1G>T) | |
1 | g.6472526C= | CA1151501875 | PLEKHG5 | c.1080+1G= (n.1080+1G=) c.1254+1G= (n.1254+1G=) c.1191+1G= (n.1191+1G=) n.1556+1G= c.1287+1G= (n.1287+1G=) c.1377+1G= (n.1377+1G=) c.*1292+1G= (n.*1292+1G=) c.*908+1G= (n.*908+1G=) c.1311+1G= (n.1311+1G=) c.1248+1G= (n.1248+1G=) c.1317+1G= (n.1317+1G=) | |
1 | g.6472526C>G | CA338132435 | PLEKHG5 | c.1080+1G>C (n.1080+1G>C) c.1254+1G>C (n.1254+1G>C) c.1191+1G>C (n.1191+1G>C) n.1556+1G>C c.1287+1G>C (n.1287+1G>C) c.1377+1G>C (n.1377+1G>C) c.*1292+1G>C (n.*1292+1G>C) c.*908+1G>C (n.*908+1G>C) c.1311+1G>C (n.1311+1G>C) c.1248+1G>C (n.1248+1G>C) c.1317+1G>C (n.1317+1G>C) | |
1 | g.6472526C>T | CA338132434 | PLEKHG5 | c.1080+1G>A (n.1080+1G>A) c.1254+1G>A (n.1254+1G>A) c.1191+1G>A (n.1191+1G>A) n.1556+1G>A c.1287+1G>A (n.1287+1G>A) c.1377+1G>A (n.1377+1G>A) c.*1292+1G>A (n.*1292+1G>A) c.*908+1G>A (n.*908+1G>A) c.1311+1G>A (n.1311+1G>A) c.1248+1G>A (n.1248+1G>A) c.1317+1G>A (n.1317+1G>A) | ClinVar dbSNP gnomAD v4 |
1 | g.6472527G>A | CA415832457 | PLEKHG5 | c.1080C>T (p.Asn360=) c.1254C>T (p.Asn418=) c.1191C>T (p.Asn397=) n.1556C>T c.1287C>T (p.Asn429=) c.1377C>T (p.Asn459=) c.*1292C>T (n.*1292C>T) c.*908C>T (n.*908C>T) c.1311C>T (p.Asn437=) c.1248C>T (p.Asn416=) c.1317C>T (p.Asn439=) | dbSNP gnomAD v4 |
1 | g.6472527G>C | CA338132437 | PLEKHG5 | c.1080C>G (p.Asn360Lys) c.1254C>G (p.Asn418Lys) c.1191C>G (p.Asn397Lys) n.1556C>G c.1287C>G (p.Asn429Lys) c.1377C>G (p.Asn459Lys) c.*1292C>G (n.*1292C>G) c.*908C>G (n.*908C>G) c.1311C>G (p.Asn437Lys) c.1248C>G (p.Asn416Lys) c.1317C>G (p.Asn439Lys) | |
1 | g.6472527G= | CA1151501877 | PLEKHG5 | c.1080C= (p.Asn360=) c.1254C= (p.Asn418=) c.1191C= (p.Asn397=) n.1556C= c.1287C= (p.Asn429=) c.1377C= (p.Asn459=) c.*1292C= (n.*1292C=) c.*908C= (n.*908C=) c.1311C= (p.Asn437=) c.1248C= (p.Asn416=) c.1317C= (p.Asn439=) | |
1 | g.6472527G>T | CA338132439 | PLEKHG5 | c.1080C>A (p.Asn360Lys) c.1254C>A (p.Asn418Lys) c.1191C>A (p.Asn397Lys) n.1556C>A c.1287C>A (p.Asn429Lys) c.1377C>A (p.Asn459Lys) c.*1292C>A (n.*1292C>A) c.*908C>A (n.*908C>A) c.1311C>A (p.Asn437Lys) c.1248C>A (p.Asn416Lys) c.1317C>A (p.Asn439Lys) | gnomAD v4 |
1 | g.6472528T>A | CA338132444 | PLEKHG5 | c.1079A>T (p.Asn360Ile) c.1253A>T (p.Asn418Ile) c.1190A>T (p.Asn397Ile) n.1555A>T c.1286A>T (p.Asn429Ile) c.1376A>T (p.Asn459Ile) c.*1291A>T (n.*1291A>T) c.*907A>T (n.*907A>T) c.1310A>T (p.Asn437Ile) c.1247A>T (p.Asn416Ile) c.1316A>T (p.Asn439Ile) | |
1 | g.6472528T>C | CA338132454 | PLEKHG5 | c.1079A>G (p.Asn360Ser) c.1253A>G (p.Asn418Ser) c.1190A>G (p.Asn397Ser) n.1555A>G c.1286A>G (p.Asn429Ser) c.1376A>G (p.Asn459Ser) c.*1291A>G (n.*1291A>G) c.*907A>G (n.*907A>G) c.1310A>G (p.Asn437Ser) c.1247A>G (p.Asn416Ser) c.1316A>G (p.Asn439Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6472528T>G | CA338132460 | PLEKHG5 | c.1079A>C (p.Asn360Thr) c.1253A>C (p.Asn418Thr) c.1190A>C (p.Asn397Thr) n.1555A>C c.1286A>C (p.Asn429Thr) c.1376A>C (p.Asn459Thr) c.*1291A>C (n.*1291A>C) c.*907A>C (n.*907A>C) c.1310A>C (p.Asn437Thr) c.1247A>C (p.Asn416Thr) c.1316A>C (p.Asn439Thr) | |
1 | g.6472528T= | CA1151501881 | PLEKHG5 | c.1079A= (p.Asn360=) c.1253A= (p.Asn418=) c.1190A= (p.Asn397=) n.1555A= c.1286A= (p.Asn429=) c.1376A= (p.Asn459=) c.*1291A= (n.*1291A=) c.*907A= (n.*907A=) c.1310A= (p.Asn437=) c.1247A= (p.Asn416=) c.1316A= (p.Asn439=) | |
1 | g.6472529T>A | CA338132463 | PLEKHG5 | c.1078A>T (p.Asn360Tyr) c.1252A>T (p.Asn418Tyr) c.1189A>T (p.Asn397Tyr) n.1554A>T c.1285A>T (p.Asn429Tyr) c.1375A>T (p.Asn459Tyr) c.*1290A>T (n.*1290A>T) c.*906A>T (n.*906A>T) c.1309A>T (p.Asn437Tyr) c.1246A>T (p.Asn416Tyr) c.1315A>T (p.Asn439Tyr) | |
1 | g.6472529T>C | CA338132465 | PLEKHG5 | c.1078A>G (p.Asn360Asp) c.1252A>G (p.Asn418Asp) c.1189A>G (p.Asn397Asp) n.1554A>G c.1285A>G (p.Asn429Asp) c.1375A>G (p.Asn459Asp) c.*1290A>G (n.*1290A>G) c.*906A>G (n.*906A>G) c.1309A>G (p.Asn437Asp) c.1246A>G (p.Asn416Asp) c.1315A>G (p.Asn439Asp) | |
1 | g.6472529T>G | CA338132467 | PLEKHG5 | c.1078A>C (p.Asn360His) c.1252A>C (p.Asn418His) c.1189A>C (p.Asn397His) n.1554A>C c.1285A>C (p.Asn429His) c.1375A>C (p.Asn459His) c.*1290A>C (n.*1290A>C) c.*906A>C (n.*906A>C) c.1309A>C (p.Asn437His) c.1246A>C (p.Asn416His) c.1315A>C (p.Asn439His) | |
1 | g.6472533_6472535del | CA2580611391 | PLEKHG5 | c.1076_1078del (p.Ile359del) c.1250_1252del (p.Ile417del) c.1187_1189del (p.Ile396del) n.1552_1554del c.1283_1285del (p.Ile428del) c.1373_1375del (p.Ile458del) c.*1288_*1290del (n.*1288_*1290del) c.*904_*906del (n.*904_*906del) c.1307_1309del (p.Ile436del) c.1244_1246del (p.Ile415del) c.1313_1315del (p.Ile438del) | ClinVar |
1 | g.6472530G>A | CA415832469 | PLEKHG5 | c.1077C>T (p.Ile359=) c.1251C>T (p.Ile417=) c.1188C>T (p.Ile396=) n.1553C>T c.1284C>T (p.Ile428=) c.1374C>T (p.Ile458=) c.*1289C>T (n.*1289C>T) c.*905C>T (n.*905C>T) c.1308C>T (p.Ile436=) c.1245C>T (p.Ile415=) c.1314C>T (p.Ile438=) | |
1 | g.6472530G>C | CA338132473 | PLEKHG5 | c.1077C>G (p.Ile359Met) c.1251C>G (p.Ile417Met) c.1188C>G (p.Ile396Met) n.1553C>G c.1284C>G (p.Ile428Met) c.1374C>G (p.Ile458Met) c.*1289C>G (n.*1289C>G) c.*905C>G (n.*905C>G) c.1308C>G (p.Ile436Met) c.1245C>G (p.Ile415Met) c.1314C>G (p.Ile438Met) | |
1 | g.6472530G>T | CA415832467 | PLEKHG5 | c.1077C>A (p.Ile359=) c.1251C>A (p.Ile417=) c.1188C>A (p.Ile396=) n.1553C>A c.1284C>A (p.Ile428=) c.1374C>A (p.Ile458=) c.*1289C>A (n.*1289C>A) c.*905C>A (n.*905C>A) c.1308C>A (p.Ile436=) c.1245C>A (p.Ile415=) c.1314C>A (p.Ile438=) | gnomAD v4 |
1 | g.6472531A>C | CA338132481 | PLEKHG5 | c.1076T>G (p.Ile359Ser) c.1250T>G (p.Ile417Ser) c.1187T>G (p.Ile396Ser) n.1552T>G c.1283T>G (p.Ile428Ser) c.1373T>G (p.Ile458Ser) c.*1288T>G (n.*1288T>G) c.*904T>G (n.*904T>G) c.1307T>G (p.Ile436Ser) c.1244T>G (p.Ile415Ser) c.1313T>G (p.Ile438Ser) | |
1 | g.6472531A>G | CA338132483 | PLEKHG5 | c.1076T>C (p.Ile359Thr) c.1250T>C (p.Ile417Thr) c.1187T>C (p.Ile396Thr) n.1552T>C c.1283T>C (p.Ile428Thr) c.1373T>C (p.Ile458Thr) c.*1288T>C (n.*1288T>C) c.*904T>C (n.*904T>C) c.1307T>C (p.Ile436Thr) c.1244T>C (p.Ile415Thr) c.1313T>C (p.Ile438Thr) | gnomAD v4 |
1 | g.6472531A>T | CA338132487 | PLEKHG5 | c.1076T>A (p.Ile359Asn) c.1250T>A (p.Ile417Asn) c.1187T>A (p.Ile396Asn) n.1552T>A c.1283T>A (p.Ile428Asn) c.1373T>A (p.Ile458Asn) c.*1288T>A (n.*1288T>A) c.*904T>A (n.*904T>A) c.1307T>A (p.Ile436Asn) c.1244T>A (p.Ile415Asn) c.1313T>A (p.Ile438Asn) | |
1 | g.6472532T>A | CA338132492 | PLEKHG5 | c.1075A>T (p.Ile359Phe) c.1249A>T (p.Ile417Phe) c.1186A>T (p.Ile396Phe) n.1551A>T c.1282A>T (p.Ile428Phe) c.1372A>T (p.Ile458Phe) c.*1287A>T (n.*1287A>T) c.*903A>T (n.*903A>T) c.1306A>T (p.Ile436Phe) c.1243A>T (p.Ile415Phe) c.1312A>T (p.Ile438Phe) | |
1 | g.6472532T>C | CA338132491 | PLEKHG5 | c.1075A>G (p.Ile359Val) c.1249A>G (p.Ile417Val) c.1186A>G (p.Ile396Val) n.1551A>G c.1282A>G (p.Ile428Val) c.1372A>G (p.Ile458Val) c.*1287A>G (n.*1287A>G) c.*903A>G (n.*903A>G) c.1306A>G (p.Ile436Val) c.1243A>G (p.Ile415Val) c.1312A>G (p.Ile438Val) | |
1 | g.6472532T>G | CA338132490 | PLEKHG5 | c.1075A>C (p.Ile359Leu) c.1249A>C (p.Ile417Leu) c.1186A>C (p.Ile396Leu) n.1551A>C c.1282A>C (p.Ile428Leu) c.1372A>C (p.Ile458Leu) c.*1287A>C (n.*1287A>C) c.*903A>C (n.*903A>C) c.1306A>C (p.Ile436Leu) c.1243A>C (p.Ile415Leu) c.1312A>C (p.Ile438Leu) | gnomAD v4 |
1 | g.6472533G>A | CA415832487 | PLEKHG5 | c.1074C>T (p.Ile358=) c.1248C>T (p.Ile416=) c.1185C>T (p.Ile395=) n.1550C>T c.1281C>T (p.Ile427=) c.1371C>T (p.Ile457=) c.*1286C>T (n.*1286C>T) c.*902C>T (n.*902C>T) c.1305C>T (p.Ile435=) c.1242C>T (p.Ile414=) c.1311C>T (p.Ile437=) | |
1 | g.6472533G>C | CA338132494 | PLEKHG5 | c.1074C>G (p.Ile358Met) c.1248C>G (p.Ile416Met) c.1185C>G (p.Ile395Met) n.1550C>G c.1281C>G (p.Ile427Met) c.1371C>G (p.Ile457Met) c.*1286C>G (n.*1286C>G) c.*902C>G (n.*902C>G) c.1305C>G (p.Ile435Met) c.1242C>G (p.Ile414Met) c.1311C>G (p.Ile437Met) | |
1 | g.6472533G>T | CA415832488 | PLEKHG5 | c.1074C>A (p.Ile358=) c.1248C>A (p.Ile416=) c.1185C>A (p.Ile395=) n.1550C>A c.1281C>A (p.Ile427=) c.1371C>A (p.Ile457=) c.*1286C>A (n.*1286C>A) c.*902C>A (n.*902C>A) c.1305C>A (p.Ile435=) c.1242C>A (p.Ile414=) c.1311C>A (p.Ile437=) | gnomAD v4 |
1 | g.6472534A= | CA1151501883 | PLEKHG5 | c.1073T= (p.Ile358=) c.1247T= (p.Ile416=) c.1184T= (p.Ile395=) n.1549T= c.1280T= (p.Ile427=) c.1370T= (p.Ile457=) c.*1285T= (n.*1285T=) c.*901T= (n.*901T=) c.1304T= (p.Ile435=) c.1241T= (p.Ile414=) c.1310T= (p.Ile437=) | |
1 | g.6472534A>C | CA338132500 | PLEKHG5 | c.1073T>G (p.Ile358Ser) c.1247T>G (p.Ile416Ser) c.1184T>G (p.Ile395Ser) n.1549T>G c.1280T>G (p.Ile427Ser) c.1370T>G (p.Ile457Ser) c.*1285T>G (n.*1285T>G) c.*901T>G (n.*901T>G) c.1304T>G (p.Ile435Ser) c.1241T>G (p.Ile414Ser) c.1310T>G (p.Ile437Ser) | |
1 | g.6472534A>G | CA17240979 | PLEKHG5 | c.1073T>C (p.Ile358Thr) c.1247T>C (p.Ile416Thr) c.1184T>C (p.Ile395Thr) n.1549T>C c.1280T>C (p.Ile427Thr) c.1370T>C (p.Ile457Thr) c.*1285T>C (n.*1285T>C) c.*901T>C (n.*901T>C) c.1304T>C (p.Ile435Thr) c.1241T>C (p.Ile414Thr) c.1310T>C (p.Ile437Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6472534A>T | CA338132505 | PLEKHG5 | c.1073T>A (p.Ile358Asn) c.1247T>A (p.Ile416Asn) c.1184T>A (p.Ile395Asn) n.1549T>A c.1280T>A (p.Ile427Asn) c.1370T>A (p.Ile457Asn) c.*1285T>A (n.*1285T>A) c.*901T>A (n.*901T>A) c.1304T>A (p.Ile435Asn) c.1241T>A (p.Ile414Asn) c.1310T>A (p.Ile437Asn) | |
1 | g.6472535T>A | CA338132510 | PLEKHG5 | c.1072A>T (p.Ile358Phe) c.1246A>T (p.Ile416Phe) c.1183A>T (p.Ile395Phe) n.1548A>T c.1279A>T (p.Ile427Phe) c.1369A>T (p.Ile457Phe) c.*1284A>T (n.*1284A>T) c.*900A>T (n.*900A>T) c.1303A>T (p.Ile435Phe) c.1240A>T (p.Ile414Phe) c.1309A>T (p.Ile437Phe) | |
1 | g.6472535T>C | CA338132513 | PLEKHG5 | c.1072A>G (p.Ile358Val) c.1246A>G (p.Ile416Val) c.1183A>G (p.Ile395Val) n.1548A>G c.1279A>G (p.Ile427Val) c.1369A>G (p.Ile457Val) c.*1284A>G (n.*1284A>G) c.*900A>G (n.*900A>G) c.1303A>G (p.Ile435Val) c.1240A>G (p.Ile414Val) c.1309A>G (p.Ile437Val) | |
1 | g.6472535T>G | CA338132515 | PLEKHG5 | c.1072A>C (p.Ile358Leu) c.1246A>C (p.Ile416Leu) c.1183A>C (p.Ile395Leu) n.1548A>C c.1279A>C (p.Ile427Leu) c.1369A>C (p.Ile457Leu) c.*1284A>C (n.*1284A>C) c.*900A>C (n.*900A>C) c.1303A>C (p.Ile435Leu) c.1240A>C (p.Ile414Leu) c.1309A>C (p.Ile437Leu) | |
1 | g.6472536C>A | CA415832497 | PLEKHG5 | c.1071G>T (p.Val357=) c.1245G>T (p.Val415=) c.1182G>T (p.Val394=) n.1547G>T c.1278G>T (p.Val426=) c.1368G>T (p.Val456=) c.*1283G>T (n.*1283G>T) c.*899G>T (n.*899G>T) c.1302G>T (p.Val434=) c.1239G>T (p.Val413=) c.1308G>T (p.Val436=) | |
1 | g.6472536C>G | CA415832501 | PLEKHG5 | c.1071G>C (p.Val357=) c.1245G>C (p.Val415=) c.1182G>C (p.Val394=) n.1547G>C c.1278G>C (p.Val426=) c.1368G>C (p.Val456=) c.*1283G>C (n.*1283G>C) c.*899G>C (n.*899G>C) c.1302G>C (p.Val434=) c.1239G>C (p.Val413=) c.1308G>C (p.Val436=) | COSMIC COSMIC COSMIC |
1 | g.6472536C>T | CA415832499 | PLEKHG5 | c.1071G>A (p.Val357=) c.1245G>A (p.Val415=) c.1182G>A (p.Val394=) n.1547G>A c.1278G>A (p.Val426=) c.1368G>A (p.Val456=) c.*1283G>A (n.*1283G>A) c.*899G>A (n.*899G>A) c.1302G>A (p.Val434=) c.1239G>A (p.Val413=) c.1308G>A (p.Val436=) | gnomAD v4 |
1 | g.6472537A= | CA1144370382 | PLEKHG5 | c.1070T= (p.Val357=) c.1244T= (p.Val415=) c.1181T= (p.Val394=) n.1546T= c.1277T= (p.Val426=) c.1367T= (p.Val456=) c.*1282T= (n.*1282T=) c.*898T= (n.*898T=) c.1301T= (p.Val434=) c.1238T= (p.Val413=) c.1307T= (p.Val436=) | |
1 | g.6472537A>C | CA561662 | PLEKHG5 | c.1070T>G (p.Val357Gly) c.1244T>G (p.Val415Gly) c.1181T>G (p.Val394Gly) n.1546T>G c.1277T>G (p.Val426Gly) c.1367T>G (p.Val456Gly) c.*1282T>G (n.*1282T>G) c.*898T>G (n.*898T>G) c.1301T>G (p.Val434Gly) c.1238T>G (p.Val413Gly) c.1307T>G (p.Val436Gly) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.6472537A>G | CA338132521 | PLEKHG5 | c.1070T>C (p.Val357Ala) c.1244T>C (p.Val415Ala) c.1181T>C (p.Val394Ala) n.1546T>C c.1277T>C (p.Val426Ala) c.1367T>C (p.Val456Ala) c.*1282T>C (n.*1282T>C) c.*898T>C (n.*898T>C) c.1301T>C (p.Val434Ala) c.1238T>C (p.Val413Ala) c.1307T>C (p.Val436Ala) | |
1 | g.6472537A>T | CA338132525 | PLEKHG5 | c.1070T>A (p.Val357Glu) c.1244T>A (p.Val415Glu) c.1181T>A (p.Val394Glu) n.1546T>A c.1277T>A (p.Val426Glu) c.1367T>A (p.Val456Glu) c.*1282T>A (n.*1282T>A) c.*898T>A (n.*898T>A) c.1301T>A (p.Val434Glu) c.1238T>A (p.Val413Glu) c.1307T>A (p.Val436Glu) | gnomAD v4 |
1 | g.6472538C>A | CA338132528 | PLEKHG5 | c.1069G>T (p.Val357Leu) c.1243G>T (p.Val415Leu) c.1180G>T (p.Val394Leu) n.1545G>T c.1276G>T (p.Val426Leu) c.1366G>T (p.Val456Leu) c.*1281G>T (n.*1281G>T) c.*897G>T (n.*897G>T) c.1300G>T (p.Val434Leu) c.1237G>T (p.Val413Leu) c.1306G>T (p.Val436Leu) | gnomAD v4 |
1 | g.6472538C= | CA1151501888 | PLEKHG5 | c.1069G= (p.Val357=) c.1243G= (p.Val415=) c.1180G= (p.Val394=) n.1545G= c.1276G= (p.Val426=) c.1366G= (p.Val456=) c.*1281G= (n.*1281G=) c.*897G= (n.*897G=) c.1300G= (p.Val434=) c.1237G= (p.Val413=) c.1306G= (p.Val436=) | |
1 | g.6472538C>G | CA338132531 | PLEKHG5 | c.1069G>C (p.Val357Leu) c.1243G>C (p.Val415Leu) c.1180G>C (p.Val394Leu) n.1545G>C c.1276G>C (p.Val426Leu) c.1366G>C (p.Val456Leu) c.*1281G>C (n.*1281G>C) c.*897G>C (n.*897G>C) c.1300G>C (p.Val434Leu) c.1237G>C (p.Val413Leu) c.1306G>C (p.Val436Leu) | |
1 | g.6472538C>T | CA338132536 | PLEKHG5 | c.1069G>A (p.Val357Met) c.1243G>A (p.Val415Met) c.1180G>A (p.Val394Met) n.1545G>A c.1276G>A (p.Val426Met) c.1366G>A (p.Val456Met) c.*1281G>A (n.*1281G>A) c.*897G>A (n.*897G>A) c.1300G>A (p.Val434Met) c.1237G>A (p.Val413Met) c.1306G>A (p.Val436Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.6472539C>A | CA415832508 | PLEKHG5 | c.1068G>T (p.Arg356=) c.1242G>T (p.Arg414=) c.1179G>T (p.Arg393=) n.1544G>T c.1275G>T (p.Arg425=) c.1365G>T (p.Arg455=) c.*1280G>T (n.*1280G>T) c.*896G>T (n.*896G>T) c.1299G>T (p.Arg433=) c.1236G>T (p.Arg412=) c.1305G>T (p.Arg435=) | |
1 | g.6472539C= | CA1151501893 | PLEKHG5 | c.1068G= (p.Arg356=) c.1242G= (p.Arg414=) c.1179G= (p.Arg393=) n.1544G= c.1275G= (p.Arg425=) c.1365G= (p.Arg455=) c.*1280G= (n.*1280G=) c.*896G= (n.*896G=) c.1299G= (p.Arg433=) c.1236G= (p.Arg412=) c.1305G= (p.Arg435=) | |
1 | g.6472539C>G | CA415832509 | PLEKHG5 | c.1068G>C (p.Arg356=) c.1242G>C (p.Arg414=) c.1179G>C (p.Arg393=) n.1544G>C c.1275G>C (p.Arg425=) c.1365G>C (p.Arg455=) c.*1280G>C (n.*1280G>C) c.*896G>C (n.*896G>C) c.1299G>C (p.Arg433=) c.1236G>C (p.Arg412=) c.1305G>C (p.Arg435=) | dbSNP |
1 | g.6472539C>T | CA415832511 | PLEKHG5 | c.1068G>A (p.Arg356=) c.1242G>A (p.Arg414=) c.1179G>A (p.Arg393=) n.1544G>A c.1275G>A (p.Arg425=) c.1365G>A (p.Arg455=) c.*1280G>A (n.*1280G>A) c.*896G>A (n.*896G>A) c.1299G>A (p.Arg433=) c.1236G>A (p.Arg412=) c.1305G>A (p.Arg435=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.6472540C>A | CA338132538 | PLEKHG5 | c.1067G>T (p.Arg356Leu) c.1241G>T (p.Arg414Leu) c.1178G>T (p.Arg393Leu) n.1543G>T c.1274G>T (p.Arg425Leu) c.1364G>T (p.Arg455Leu) c.*1279G>T (n.*1279G>T) c.*895G>T (n.*895G>T) c.1298G>T (p.Arg433Leu) c.1235G>T (p.Arg412Leu) c.1304G>T (p.Arg435Leu) | |
1 | g.6472540C= | CA1140724588 | PLEKHG5 | c.1067G= (p.Arg356=) c.1241G= (p.Arg414=) c.1178G= (p.Arg393=) n.1543G= c.1274G= (p.Arg425=) c.1364G= (p.Arg455=) c.*1279G= (n.*1279G=) c.*895G= (n.*895G=) c.1298G= (p.Arg433=) c.1235G= (p.Arg412=) c.1304G= (p.Arg435=) | |
1 | g.6472540C>G | CA17240998 | PLEKHG5 | c.1067G>C (p.Arg356Pro) c.1241G>C (p.Arg414Pro) c.1178G>C (p.Arg393Pro) n.1543G>C c.1274G>C (p.Arg425Pro) c.1364G>C (p.Arg455Pro) c.*1279G>C (n.*1279G>C) c.*895G>C (n.*895G>C) c.1298G>C (p.Arg433Pro) c.1235G>C (p.Arg412Pro) c.1304G>C (p.Arg435Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6472540C>T | CA561663 | PLEKHG5 | c.1067G>A (p.Arg356Gln) c.1241G>A (p.Arg414Gln) c.1178G>A (p.Arg393Gln) n.1543G>A c.1274G>A (p.Arg425Gln) c.1364G>A (p.Arg455Gln) c.*1279G>A (n.*1279G>A) c.*895G>A (n.*895G>A) c.1298G>A (p.Arg433Gln) c.1235G>A (p.Arg412Gln) c.1304G>A (p.Arg435Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6472541G>A | CA561664 | PLEKHG5 | c.1066C>T (p.Arg356Trp) c.1240C>T (p.Arg414Trp) c.1177C>T (p.Arg393Trp) n.1542C>T c.1273C>T (p.Arg425Trp) c.1363C>T (p.Arg455Trp) c.*1278C>T (n.*1278C>T) c.*894C>T (n.*894C>T) c.1297C>T (p.Arg433Trp) c.1234C>T (p.Arg412Trp) c.1303C>T (p.Arg435Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6472541G>C | CA338132541 | PLEKHG5 | c.1066C>G (p.Arg356Gly) c.1240C>G (p.Arg414Gly) c.1177C>G (p.Arg393Gly) n.1542C>G c.1273C>G (p.Arg425Gly) c.1363C>G (p.Arg455Gly) c.*1278C>G (n.*1278C>G) c.*894C>G (n.*894C>G) c.1297C>G (p.Arg433Gly) c.1234C>G (p.Arg412Gly) c.1303C>G (p.Arg435Gly) | |
1 | g.6472541G= | CA1151501906 | PLEKHG5 | c.1066C= (p.Arg356=) c.1240C= (p.Arg414=) c.1177C= (p.Arg393=) n.1542C= c.1273C= (p.Arg425=) c.1363C= (p.Arg455=) c.*1278C= (n.*1278C=) c.*894C= (n.*894C=) c.1297C= (p.Arg433=) c.1234C= (p.Arg412=) c.1303C= (p.Arg435=) | |
1 | g.6472541G>T | CA415832521 | PLEKHG5 | c.1066C>A (p.Arg356=) c.1240C>A (p.Arg414=) c.1177C>A (p.Arg393=) n.1542C>A c.1273C>A (p.Arg425=) c.1363C>A (p.Arg455=) c.*1278C>A (n.*1278C>A) c.*894C>A (n.*894C>A) c.1297C>A (p.Arg433=) c.1234C>A (p.Arg412=) c.1303C>A (p.Arg435=) | |
1 | g.6472542C>A | CA415832522 | PLEKHG5 | c.1065G>T (p.Leu355=) c.1239G>T (p.Leu413=) c.1176G>T (p.Leu392=) n.1541G>T c.1272G>T (p.Leu424=) c.1362G>T (p.Leu454=) c.*1277G>T (n.*1277G>T) c.*893G>T (n.*893G>T) c.1296G>T (p.Leu432=) c.1233G>T (p.Leu411=) c.1302G>T (p.Leu434=) | ClinVar dbSNP |
1 | g.6472542C>G | CA415832526 | PLEKHG5 | c.1065G>C (p.Leu355=) c.1239G>C (p.Leu413=) c.1176G>C (p.Leu392=) n.1541G>C c.1272G>C (p.Leu424=) c.1362G>C (p.Leu454=) c.*1277G>C (n.*1277G>C) c.*893G>C (n.*893G>C) c.1296G>C (p.Leu432=) c.1233G>C (p.Leu411=) c.1302G>C (p.Leu434=) | |
1 | g.6472542C>T | CA415832525 | PLEKHG5 | c.1065G>A (p.Leu355=) c.1239G>A (p.Leu413=) c.1176G>A (p.Leu392=) n.1541G>A c.1272G>A (p.Leu424=) c.1362G>A (p.Leu454=) c.*1277G>A (n.*1277G>A) c.*893G>A (n.*893G>A) c.1296G>A (p.Leu432=) c.1233G>A (p.Leu411=) c.1302G>A (p.Leu434=) | |
1 | g.6472543A= | CA1143833113 | PLEKHG5 | c.1064T= (p.Leu355=) c.1238T= (p.Leu413=) c.1175T= (p.Leu392=) n.1540T= c.1271T= (p.Leu424=) c.1361T= (p.Leu454=) c.*1276T= (n.*1276T=) c.*892T= (n.*892T=) c.1295T= (p.Leu432=) c.1232T= (p.Leu411=) c.1301T= (p.Leu434=) | |
1 | g.6472543A>C | CA338132544 | PLEKHG5 | c.1064T>G (p.Leu355Arg) c.1238T>G (p.Leu413Arg) c.1175T>G (p.Leu392Arg) n.1540T>G c.1271T>G (p.Leu424Arg) c.1361T>G (p.Leu454Arg) c.*1276T>G (n.*1276T>G) c.*892T>G (n.*892T>G) c.1295T>G (p.Leu432Arg) c.1232T>G (p.Leu411Arg) c.1301T>G (p.Leu434Arg) | gnomAD v4 |
1 | g.6472543A>G | CA17241041 | PLEKHG5 | c.1064T>C (p.Leu355Pro) c.1238T>C (p.Leu413Pro) c.1175T>C (p.Leu392Pro) n.1540T>C c.1271T>C (p.Leu424Pro) c.1361T>C (p.Leu454Pro) c.*1276T>C (n.*1276T>C) c.*892T>C (n.*892T>C) c.1295T>C (p.Leu432Pro) c.1232T>C (p.Leu411Pro) c.1301T>C (p.Leu434Pro) | ClinVar dbSNP gnomAD v4 |
1 | g.6472543A>T | CA561665 | PLEKHG5 | c.1064T>A (p.Leu355Gln) c.1238T>A (p.Leu413Gln) c.1175T>A (p.Leu392Gln) n.1540T>A c.1271T>A (p.Leu424Gln) c.1361T>A (p.Leu454Gln) c.*1276T>A (n.*1276T>A) c.*892T>A (n.*892T>A) c.1295T>A (p.Leu432Gln) c.1232T>A (p.Leu411Gln) c.1301T>A (p.Leu434Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6472544G>A | CA415832531 | PLEKHG5 | c.1063C>T (p.Leu355=) c.1237C>T (p.Leu413=) c.1174C>T (p.Leu392=) n.1539C>T c.1270C>T (p.Leu424=) c.1360C>T (p.Leu454=) c.*1275C>T (n.*1275C>T) c.*891C>T (n.*891C>T) c.1294C>T (p.Leu432=) c.1231C>T (p.Leu411=) c.1300C>T (p.Leu434=) | |
1 | g.6472544G>C | CA338132548 | PLEKHG5 | c.1063C>G (p.Leu355Val) c.1237C>G (p.Leu413Val) c.1174C>G (p.Leu392Val) n.1539C>G c.1270C>G (p.Leu424Val) c.1360C>G (p.Leu454Val) c.*1275C>G (n.*1275C>G) c.*891C>G (n.*891C>G) c.1294C>G (p.Leu432Val) c.1231C>G (p.Leu411Val) c.1300C>G (p.Leu434Val) | |
1 | g.6472544G>T | CA338132551 | PLEKHG5 | c.1063C>A (p.Leu355Met) c.1237C>A (p.Leu413Met) c.1174C>A (p.Leu392Met) n.1539C>A c.1270C>A (p.Leu424Met) c.1360C>A (p.Leu454Met) c.*1275C>A (n.*1275C>A) c.*891C>A (n.*891C>A) c.1294C>A (p.Leu432Met) c.1231C>A (p.Leu411Met) c.1300C>A (p.Leu434Met) | |
1 | g.6472545T>A | CA338132555 | PLEKHG5 | c.1062A>T (p.Lys354Asn) c.1236A>T (p.Lys412Asn) c.1173A>T (p.Lys391Asn) n.1538A>T c.1269A>T (p.Lys423Asn) c.1359A>T (p.Lys453Asn) c.*1274A>T (n.*1274A>T) c.*890A>T (n.*890A>T) c.1293A>T (p.Lys431Asn) c.1230A>T (p.Lys410Asn) c.1299A>T (p.Lys433Asn) | |
1 | g.6472545T>C | CA415832538 | PLEKHG5 | c.1062A>G (p.Lys354=) c.1236A>G (p.Lys412=) c.1173A>G (p.Lys391=) n.1538A>G c.1269A>G (p.Lys423=) c.1359A>G (p.Lys453=) c.*1274A>G (n.*1274A>G) c.*890A>G (n.*890A>G) c.1293A>G (p.Lys431=) c.1230A>G (p.Lys410=) c.1299A>G (p.Lys433=) | gnomAD v4 |
1 | g.6472545T>G | CA338132556 | PLEKHG5 | c.1062A>C (p.Lys354Asn) c.1236A>C (p.Lys412Asn) c.1173A>C (p.Lys391Asn) n.1538A>C c.1269A>C (p.Lys423Asn) c.1359A>C (p.Lys453Asn) c.*1274A>C (n.*1274A>C) c.*890A>C (n.*890A>C) c.1293A>C (p.Lys431Asn) c.1230A>C (p.Lys410Asn) c.1299A>C (p.Lys433Asn) | |
1 | g.6472546T>A | CA338132559 | PLEKHG5 | c.1061A>T (p.Lys354Ile) c.1235A>T (p.Lys412Ile) c.1172A>T (p.Lys391Ile) n.1537A>T c.1268A>T (p.Lys423Ile) c.1358A>T (p.Lys453Ile) c.*1273A>T (n.*1273A>T) c.*889A>T (n.*889A>T) c.1292A>T (p.Lys431Ile) c.1229A>T (p.Lys410Ile) c.1298A>T (p.Lys433Ile) | |
1 | g.6472546T>C | CA338132560 | PLEKHG5 | c.1061A>G (p.Lys354Arg) c.1235A>G (p.Lys412Arg) c.1172A>G (p.Lys391Arg) n.1537A>G c.1268A>G (p.Lys423Arg) c.1358A>G (p.Lys453Arg) c.*1273A>G (n.*1273A>G) c.*889A>G (n.*889A>G) c.1292A>G (p.Lys431Arg) c.1229A>G (p.Lys410Arg) c.1298A>G (p.Lys433Arg) | |
1 | g.6472546T>G | CA338132562 | PLEKHG5 | c.1061A>C (p.Lys354Thr) c.1235A>C (p.Lys412Thr) c.1172A>C (p.Lys391Thr) n.1537A>C c.1268A>C (p.Lys423Thr) c.1358A>C (p.Lys453Thr) c.*1273A>C (n.*1273A>C) c.*889A>C (n.*889A>C) c.1292A>C (p.Lys431Thr) c.1229A>C (p.Lys410Thr) c.1298A>C (p.Lys433Thr) | |
1 | g.6472547T>A | CA338132567 | PLEKHG5 | c.1060A>T (p.Lys354Ter) c.1234A>T (p.Lys412Ter) c.1171A>T (p.Lys391Ter) n.1536A>T c.1267A>T (p.Lys423Ter) c.1357A>T (p.Lys453Ter) c.*1272A>T (n.*1272A>T) c.*888A>T (n.*888A>T) c.1291A>T (p.Lys431Ter) c.1228A>T (p.Lys410Ter) c.1297A>T (p.Lys433Ter) | |
1 | g.6472547T>C | CA338132571 | PLEKHG5 | c.1060A>G (p.Lys354Glu) c.1234A>G (p.Lys412Glu) c.1171A>G (p.Lys391Glu) n.1536A>G c.1267A>G (p.Lys423Glu) c.1357A>G (p.Lys453Glu) c.*1272A>G (n.*1272A>G) c.*888A>G (n.*888A>G) c.1291A>G (p.Lys431Glu) c.1228A>G (p.Lys410Glu) c.1297A>G (p.Lys433Glu) | |
1 | g.6472547T>G | CA338132570 | PLEKHG5 | c.1060A>C (p.Lys354Gln) c.1234A>C (p.Lys412Gln) c.1171A>C (p.Lys391Gln) n.1536A>C c.1267A>C (p.Lys423Gln) c.1357A>C (p.Lys453Gln) c.*1272A>C (n.*1272A>C) c.*888A>C (n.*888A>C) c.1291A>C (p.Lys431Gln) c.1228A>C (p.Lys410Gln) c.1297A>C (p.Lys433Gln) | gnomAD v4 |
1 | g.6472548C>A | CA338132574 | PLEKHG5 | c.1059G>T (p.Arg353Ser) c.1233G>T (p.Arg411Ser) c.1170G>T (p.Arg390Ser) n.1535G>T c.1266G>T (p.Arg422Ser) c.1356G>T (p.Arg452Ser) c.*1271G>T (n.*1271G>T) c.*887G>T (n.*887G>T) c.1290G>T (p.Arg430Ser) c.1227G>T (p.Arg409Ser) c.1296G>T (p.Arg432Ser) | |
1 | g.6472548C= | CA1151501910 | PLEKHG5 | c.1059G= (p.Arg353=) c.1233G= (p.Arg411=) c.1170G= (p.Arg390=) n.1535G= c.1266G= (p.Arg422=) c.1356G= (p.Arg452=) c.*1271G= (n.*1271G=) c.*887G= (n.*887G=) c.1290G= (p.Arg430=) c.1227G= (p.Arg409=) c.1296G= (p.Arg432=) | |
1 | g.6472548C>G | CA338132577 | PLEKHG5 | c.1059G>C (p.Arg353Ser) c.1233G>C (p.Arg411Ser) c.1170G>C (p.Arg390Ser) n.1535G>C c.1266G>C (p.Arg422Ser) c.1356G>C (p.Arg452Ser) c.*1271G>C (n.*1271G>C) c.*887G>C (n.*887G>C) c.1290G>C (p.Arg430Ser) c.1227G>C (p.Arg409Ser) c.1296G>C (p.Arg432Ser) | |
1 | g.6472548C>T | CA561666 | PLEKHG5 | c.1059G>A (p.Arg353=) c.1233G>A (p.Arg411=) c.1170G>A (p.Arg390=) n.1535G>A c.1266G>A (p.Arg422=) c.1356G>A (p.Arg452=) c.*1271G>A (n.*1271G>A) c.*887G>A (n.*887G>A) c.1290G>A (p.Arg430=) c.1227G>A (p.Arg409=) c.1296G>A (p.Arg432=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6472549C>A | CA338132580 | PLEKHG5 | c.1058G>T (p.Arg353Met) c.1232G>T (p.Arg411Met) c.1169G>T (p.Arg390Met) n.1534G>T c.1265G>T (p.Arg422Met) c.1355G>T (p.Arg452Met) c.*1270G>T (n.*1270G>T) c.*886G>T (n.*886G>T) c.1289G>T (p.Arg430Met) c.1226G>T (p.Arg409Met) c.1295G>T (p.Arg432Met) | |
1 | g.6472549C= | CA1151501914 | PLEKHG5 | c.1058G= (p.Arg353=) c.1232G= (p.Arg411=) c.1169G= (p.Arg390=) n.1534G= c.1265G= (p.Arg422=) c.1355G= (p.Arg452=) c.*1270G= (n.*1270G=) c.*886G= (n.*886G=) c.1289G= (p.Arg430=) c.1226G= (p.Arg409=) c.1295G= (p.Arg432=) | |
1 | g.6472549C>G | CA561667 | PLEKHG5 | c.1058G>C (p.Arg353Thr) c.1232G>C (p.Arg411Thr) c.1169G>C (p.Arg390Thr) n.1534G>C c.1265G>C (p.Arg422Thr) c.1355G>C (p.Arg452Thr) c.*1270G>C (n.*1270G>C) c.*886G>C (n.*886G>C) c.1289G>C (p.Arg430Thr) c.1226G>C (p.Arg409Thr) c.1295G>C (p.Arg432Thr) | dbSNP ExAC |
1 | g.6472549C>T | CA338132582 | PLEKHG5 | c.1058G>A (p.Arg353Lys) c.1232G>A (p.Arg411Lys) c.1169G>A (p.Arg390Lys) n.1534G>A c.1265G>A (p.Arg422Lys) c.1355G>A (p.Arg452Lys) c.*1270G>A (n.*1270G>A) c.*886G>A (n.*886G>A) c.1289G>A (p.Arg430Lys) c.1226G>A (p.Arg409Lys) c.1295G>A (p.Arg432Lys) | |
1 | g.6472550T>A | CA338132584 | PLEKHG5 | c.1057A>T (p.Arg353Trp) c.1231A>T (p.Arg411Trp) c.1168A>T (p.Arg390Trp) n.1533A>T c.1264A>T (p.Arg422Trp) c.1354A>T (p.Arg452Trp) c.*1269A>T (n.*1269A>T) c.*885A>T (n.*885A>T) c.1288A>T (p.Arg430Trp) c.1225A>T (p.Arg409Trp) c.1294A>T (p.Arg432Trp) | |
1 | g.6472550T>C | CA338132586 | PLEKHG5 | c.1057A>G (p.Arg353Gly) c.1231A>G (p.Arg411Gly) c.1168A>G (p.Arg390Gly) n.1533A>G c.1264A>G (p.Arg422Gly) c.1354A>G (p.Arg452Gly) c.*1269A>G (n.*1269A>G) c.*885A>G (n.*885A>G) c.1288A>G (p.Arg430Gly) c.1225A>G (p.Arg409Gly) c.1294A>G (p.Arg432Gly) | dbSNP |
1 | g.6472550T>G | CA415832554 | PLEKHG5 | c.1057A>C (p.Arg353=) c.1231A>C (p.Arg411=) c.1168A>C (p.Arg390=) n.1533A>C c.1264A>C (p.Arg422=) c.1354A>C (p.Arg452=) c.*1269A>C (n.*1269A>C) c.*885A>C (n.*885A>C) c.1288A>C (p.Arg430=) c.1225A>C (p.Arg409=) c.1294A>C (p.Arg432=) | |
1 | g.6472550T= | CA1151501922 | PLEKHG5 | c.1057A= (p.Arg353=) c.1231A= (p.Arg411=) c.1168A= (p.Arg390=) n.1533A= c.1264A= (p.Arg422=) c.1354A= (p.Arg452=) c.*1269A= (n.*1269A=) c.*885A= (n.*885A=) c.1288A= (p.Arg430=) c.1225A= (p.Arg409=) c.1294A= (p.Arg432=) | |
1 | g.6472551G>A | CA415832559 | PLEKHG5 | c.1056C>T (p.Ile352=) c.1230C>T (p.Ile410=) c.1167C>T (p.Ile389=) n.1532C>T c.1263C>T (p.Ile421=) c.1353C>T (p.Ile451=) c.*1268C>T (n.*1268C>T) c.*884C>T (n.*884C>T) c.1287C>T (p.Ile429=) c.1224C>T (p.Ile408=) c.1293C>T (p.Ile431=) | |
1 | g.6472551G>C | CA338132590 | PLEKHG5 | c.1056C>G (p.Ile352Met) c.1230C>G (p.Ile410Met) c.1167C>G (p.Ile389Met) n.1532C>G c.1263C>G (p.Ile421Met) c.1353C>G (p.Ile451Met) c.*1268C>G (n.*1268C>G) c.*884C>G (n.*884C>G) c.1287C>G (p.Ile429Met) c.1224C>G (p.Ile408Met) c.1293C>G (p.Ile431Met) | dbSNP gnomAD v4 |
1 | g.6472551G>T | CA415832557 | PLEKHG5 | c.1056C>A (p.Ile352=) c.1230C>A (p.Ile410=) c.1167C>A (p.Ile389=) n.1532C>A c.1263C>A (p.Ile421=) c.1353C>A (p.Ile451=) c.*1268C>A (n.*1268C>A) c.*884C>A (n.*884C>A) c.1287C>A (p.Ile429=) c.1224C>A (p.Ile408=) c.1293C>A (p.Ile431=) | gnomAD v4 |
1 | g.6472552A>C | CA338132600 | PLEKHG5 | c.1055T>G (p.Ile352Ser) c.1229T>G (p.Ile410Ser) c.1166T>G (p.Ile389Ser) n.1531T>G c.1262T>G (p.Ile421Ser) c.1352T>G (p.Ile451Ser) c.*1267T>G (n.*1267T>G) c.*883T>G (n.*883T>G) c.1286T>G (p.Ile429Ser) c.1223T>G (p.Ile408Ser) c.1292T>G (p.Ile431Ser) | |
1 | g.6472552A>G | CA338132594 | PLEKHG5 | c.1055T>C (p.Ile352Thr) c.1229T>C (p.Ile410Thr) c.1166T>C (p.Ile389Thr) n.1531T>C c.1262T>C (p.Ile421Thr) c.1352T>C (p.Ile451Thr) c.*1267T>C (n.*1267T>C) c.*883T>C (n.*883T>C) c.1286T>C (p.Ile429Thr) c.1223T>C (p.Ile408Thr) c.1292T>C (p.Ile431Thr) | |
1 | g.6472552A>T | CA338132597 | PLEKHG5 | c.1055T>A (p.Ile352Asn) c.1229T>A (p.Ile410Asn) c.1166T>A (p.Ile389Asn) n.1531T>A c.1262T>A (p.Ile421Asn) c.1352T>A (p.Ile451Asn) c.*1267T>A (n.*1267T>A) c.*883T>A (n.*883T>A) c.1286T>A (p.Ile429Asn) c.1223T>A (p.Ile408Asn) c.1292T>A (p.Ile431Asn) | gnomAD v4 |
1 | g.6472553T>A | CA338132603 | PLEKHG5 | c.1054A>T (p.Ile352Phe) c.1228A>T (p.Ile410Phe) c.1165A>T (p.Ile389Phe) n.1530A>T c.1261A>T (p.Ile421Phe) c.1351A>T (p.Ile451Phe) c.*1266A>T (n.*1266A>T) c.*882A>T (n.*882A>T) c.1285A>T (p.Ile429Phe) c.1222A>T (p.Ile408Phe) c.1291A>T (p.Ile431Phe) | dbSNP |
1 | g.6472553T>C | CA17241054 | PLEKHG5 | c.1054A>G (p.Ile352Val) c.1228A>G (p.Ile410Val) c.1165A>G (p.Ile389Val) n.1530A>G c.1261A>G (p.Ile421Val) c.1351A>G (p.Ile451Val) c.*1266A>G (n.*1266A>G) c.*882A>G (n.*882A>G) c.1285A>G (p.Ile429Val) c.1222A>G (p.Ile408Val) c.1291A>G (p.Ile431Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.6472553T>G | CA338132607 | PLEKHG5 | c.1054A>C (p.Ile352Leu) c.1228A>C (p.Ile410Leu) c.1165A>C (p.Ile389Leu) n.1530A>C c.1261A>C (p.Ile421Leu) c.1351A>C (p.Ile451Leu) c.*1266A>C (n.*1266A>C) c.*882A>C (n.*882A>C) c.1285A>C (p.Ile429Leu) c.1222A>C (p.Ile408Leu) c.1291A>C (p.Ile431Leu) | dbSNP |
1 | g.6472553T= | CA1143441170 | PLEKHG5 | c.1054A= (p.Ile352=) c.1228A= (p.Ile410=) c.1165A= (p.Ile389=) n.1530A= c.1261A= (p.Ile421=) c.1351A= (p.Ile451=) c.*1266A= (n.*1266A=) c.*882A= (n.*882A=) c.1285A= (p.Ile429=) c.1222A= (p.Ile408=) c.1291A= (p.Ile431=) | |
1 | g.6472554G>A | CA415832566 | PLEKHG5 | c.1053C>T (p.Tyr351=) c.1227C>T (p.Tyr409=) c.1164C>T (p.Tyr388=) n.1529C>T c.1260C>T (p.Tyr420=) c.1350C>T (p.Tyr450=) c.*1265C>T (n.*1265C>T) c.*881C>T (n.*881C>T) c.1284C>T (p.Tyr428=) c.1221C>T (p.Tyr407=) c.1290C>T (p.Tyr430=) | |
1 | g.6472554G>C | CA561668 | PLEKHG5 | c.1053C>G (p.Tyr351Ter) c.1227C>G (p.Tyr409Ter) c.1164C>G (p.Tyr388Ter) n.1529C>G c.1260C>G (p.Tyr420Ter) c.1350C>G (p.Tyr450Ter) c.*1265C>G (n.*1265C>G) c.*881C>G (n.*881C>G) c.1284C>G (p.Tyr428Ter) c.1221C>G (p.Tyr407Ter) c.1290C>G (p.Tyr430Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6472554G= | CA1151501928 | PLEKHG5 | c.1053C= (p.Tyr351=) c.1227C= (p.Tyr409=) c.1164C= (p.Tyr388=) n.1529C= c.1260C= (p.Tyr420=) c.1350C= (p.Tyr450=) c.*1265C= (n.*1265C=) c.*881C= (n.*881C=) c.1284C= (p.Tyr428=) c.1221C= (p.Tyr407=) c.1290C= (p.Tyr430=) | |
1 | g.6472554G>T | CA338132610 | PLEKHG5 | c.1053C>A (p.Tyr351Ter) c.1227C>A (p.Tyr409Ter) c.1164C>A (p.Tyr388Ter) n.1529C>A c.1260C>A (p.Tyr420Ter) c.1350C>A (p.Tyr450Ter) c.*1265C>A (n.*1265C>A) c.*881C>A (n.*881C>A) c.1284C>A (p.Tyr428Ter) c.1221C>A (p.Tyr407Ter) c.1290C>A (p.Tyr430Ter) | |
1 | g.6472555T>A | CA338132614 | PLEKHG5 | c.1052A>T (p.Tyr351Phe) c.1226A>T (p.Tyr409Phe) c.1163A>T (p.Tyr388Phe) n.1528A>T c.1259A>T (p.Tyr420Phe) c.1349A>T (p.Tyr450Phe) c.*1264A>T (n.*1264A>T) c.*880A>T (n.*880A>T) c.1283A>T (p.Tyr428Phe) c.1220A>T (p.Tyr407Phe) c.1289A>T (p.Tyr430Phe) | |
1 | g.6472555T>C | CA338132612 | PLEKHG5 | c.1052A>G (p.Tyr351Cys) c.1226A>G (p.Tyr409Cys) c.1163A>G (p.Tyr388Cys) n.1528A>G c.1259A>G (p.Tyr420Cys) c.1349A>G (p.Tyr450Cys) c.*1264A>G (n.*1264A>G) c.*880A>G (n.*880A>G) c.1283A>G (p.Tyr428Cys) c.1220A>G (p.Tyr407Cys) c.1289A>G (p.Tyr430Cys) | ClinVar gnomAD v4 |
1 | g.6472555T>G | CA338132613 | PLEKHG5 | c.1052A>C (p.Tyr351Ser) c.1226A>C (p.Tyr409Ser) c.1163A>C (p.Tyr388Ser) n.1528A>C c.1259A>C (p.Tyr420Ser) c.1349A>C (p.Tyr450Ser) c.*1264A>C (n.*1264A>C) c.*880A>C (n.*880A>C) c.1283A>C (p.Tyr428Ser) c.1220A>C (p.Tyr407Ser) c.1289A>C (p.Tyr430Ser) | |
1 | g.6472556A= | CA1151501933 | PLEKHG5 | c.1051T= (p.Tyr351=) c.1225T= (p.Tyr409=) c.1162T= (p.Tyr388=) n.1527T= c.1258T= (p.Tyr420=) c.1348T= (p.Tyr450=) c.*1263T= (n.*1263T=) c.*879T= (n.*879T=) c.1282T= (p.Tyr428=) c.1219T= (p.Tyr407=) c.1288T= (p.Tyr430=) | |
1 | g.6472556A>C | CA338132617 | PLEKHG5 | c.1051T>G (p.Tyr351Asp) c.1225T>G (p.Tyr409Asp) c.1162T>G (p.Tyr388Asp) n.1527T>G c.1258T>G (p.Tyr420Asp) c.1348T>G (p.Tyr450Asp) c.*1263T>G (n.*1263T>G) c.*879T>G (n.*879T>G) c.1282T>G (p.Tyr428Asp) c.1219T>G (p.Tyr407Asp) c.1288T>G (p.Tyr430Asp) | |
1 | g.6472556A>G | CA338132621 | PLEKHG5 | c.1051T>C (p.Tyr351His) c.1225T>C (p.Tyr409His) c.1162T>C (p.Tyr388His) n.1527T>C c.1258T>C (p.Tyr420His) c.1348T>C (p.Tyr450His) c.*1263T>C (n.*1263T>C) c.*879T>C (n.*879T>C) c.1282T>C (p.Tyr428His) c.1219T>C (p.Tyr407His) c.1288T>C (p.Tyr430His) | ClinVar dbSNP gnomAD v4 |
1 | g.6472556A>T | CA338132631 | PLEKHG5 | c.1051T>A (p.Tyr351Asn) c.1225T>A (p.Tyr409Asn) c.1162T>A (p.Tyr388Asn) n.1527T>A c.1258T>A (p.Tyr420Asn) c.1348T>A (p.Tyr450Asn) c.*1263T>A (n.*1263T>A) c.*879T>A (n.*879T>A) c.1282T>A (p.Tyr428Asn) c.1219T>A (p.Tyr407Asn) c.1288T>A (p.Tyr430Asn) | |
1 | g.6472557G>A | CA415832574 | PLEKHG5 | c.1050C>T (p.Ser350=) c.1224C>T (p.Ser408=) c.1161C>T (p.Ser387=) n.1526C>T c.1257C>T (p.Ser419=) c.1347C>T (p.Ser449=) c.*1262C>T (n.*1262C>T) c.*878C>T (n.*878C>T) c.1281C>T (p.Ser427=) c.1218C>T (p.Ser406=) c.1287C>T (p.Ser429=) | |
1 | g.6472557G>C | CA415832576 | PLEKHG5 | c.1050C>G (p.Ser350=) c.1224C>G (p.Ser408=) c.1161C>G (p.Ser387=) n.1526C>G c.1257C>G (p.Ser419=) c.1347C>G (p.Ser449=) c.*1262C>G (n.*1262C>G) c.*878C>G (n.*878C>G) c.1281C>G (p.Ser427=) c.1218C>G (p.Ser406=) c.1287C>G (p.Ser429=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.6472557G= | CA1151501937 | PLEKHG5 | c.1050C= (p.Ser350=) c.1224C= (p.Ser408=) c.1161C= (p.Ser387=) n.1526C= c.1257C= (p.Ser419=) c.1347C= (p.Ser449=) c.*1262C= (n.*1262C=) c.*878C= (n.*878C=) c.1281C= (p.Ser427=) c.1218C= (p.Ser406=) c.1287C= (p.Ser429=) | |
1 | g.6472557G>T | CA415832577 | PLEKHG5 | c.1050C>A (p.Ser350=) c.1224C>A (p.Ser408=) c.1161C>A (p.Ser387=) n.1526C>A c.1257C>A (p.Ser419=) c.1347C>A (p.Ser449=) c.*1262C>A (n.*1262C>A) c.*878C>A (n.*878C>A) c.1281C>A (p.Ser427=) c.1218C>A (p.Ser406=) c.1287C>A (p.Ser429=) | COSMIC COSMIC COSMIC |
1 | g.6472558G>A | CA338132635 | PLEKHG5 | c.1049C>T (p.Ser350Phe) c.1223C>T (p.Ser408Phe) c.1160C>T (p.Ser387Phe) n.1525C>T c.1256C>T (p.Ser419Phe) c.1346C>T (p.Ser449Phe) c.*1261C>T (n.*1261C>T) c.*877C>T (n.*877C>T) c.1280C>T (p.Ser427Phe) c.1217C>T (p.Ser406Phe) c.1286C>T (p.Ser429Phe) | dbSNP |
1 | g.6472558G>C | CA338132638 | PLEKHG5 | c.1049C>G (p.Ser350Cys) c.1223C>G (p.Ser408Cys) c.1160C>G (p.Ser387Cys) n.1525C>G c.1256C>G (p.Ser419Cys) c.1346C>G (p.Ser449Cys) c.*1261C>G (n.*1261C>G) c.*877C>G (n.*877C>G) c.1280C>G (p.Ser427Cys) c.1217C>G (p.Ser406Cys) c.1286C>G (p.Ser429Cys) | |
1 | g.6472558G>T | CA338132639 | PLEKHG5 | c.1049C>A (p.Ser350Tyr) c.1223C>A (p.Ser408Tyr) c.1160C>A (p.Ser387Tyr) n.1525C>A c.1256C>A (p.Ser419Tyr) c.1346C>A (p.Ser449Tyr) c.*1261C>A (n.*1261C>A) c.*877C>A (n.*877C>A) c.1280C>A (p.Ser427Tyr) c.1217C>A (p.Ser406Tyr) c.1286C>A (p.Ser429Tyr) | |
1 | g.6472559A= | CA1151501948 | PLEKHG5 | c.1048T= (p.Ser350=) c.1222T= (p.Ser408=) c.1159T= (p.Ser387=) n.1524T= c.1255T= (p.Ser419=) c.1345T= (p.Ser449=) c.*1260T= (n.*1260T=) c.*876T= (n.*876T=) c.1279T= (p.Ser427=) c.1216T= (p.Ser406=) c.1285T= (p.Ser429=) | |
1 | g.6472559A>C | CA338132643 | PLEKHG5 | c.1048T>G (p.Ser350Ala) c.1222T>G (p.Ser408Ala) c.1159T>G (p.Ser387Ala) n.1524T>G c.1255T>G (p.Ser419Ala) c.1345T>G (p.Ser449Ala) c.*1260T>G (n.*1260T>G) c.*876T>G (n.*876T>G) c.1279T>G (p.Ser427Ala) c.1216T>G (p.Ser406Ala) c.1285T>G (p.Ser429Ala) | dbSNP |
1 | g.6472559A>G | CA338132646 | PLEKHG5 | c.1048T>C (p.Ser350Pro) c.1222T>C (p.Ser408Pro) c.1159T>C (p.Ser387Pro) n.1524T>C c.1255T>C (p.Ser419Pro) c.1345T>C (p.Ser449Pro) c.*1260T>C (n.*1260T>C) c.*876T>C (n.*876T>C) c.1279T>C (p.Ser427Pro) c.1216T>C (p.Ser406Pro) c.1285T>C (p.Ser429Pro) | |
1 | g.6472559A>T | CA338132648 | PLEKHG5 | c.1048T>A (p.Ser350Thr) c.1222T>A (p.Ser408Thr) c.1159T>A (p.Ser387Thr) n.1524T>A c.1255T>A (p.Ser419Thr) c.1345T>A (p.Ser449Thr) c.*1260T>A (n.*1260T>A) c.*876T>A (n.*876T>A) c.1279T>A (p.Ser427Thr) c.1216T>A (p.Ser406Thr) c.1285T>A (p.Ser429Thr) | |
1 | g.6472560G>A | CA561669 | PLEKHG5 | c.1047C>T (p.Ala349=) c.1221C>T (p.Ala407=) c.1158C>T (p.Ala386=) n.1523C>T c.1254C>T (p.Ala418=) c.1344C>T (p.Ala448=) c.*1259C>T (n.*1259C>T) c.*875C>T (n.*875C>T) c.1278C>T (p.Ala426=) c.1215C>T (p.Ala405=) c.1284C>T (p.Ala428=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6472560G>C | CA415832585 | PLEKHG5 | c.1047C>G (p.Ala349=) c.1221C>G (p.Ala407=) c.1158C>G (p.Ala386=) n.1523C>G c.1254C>G (p.Ala418=) c.1344C>G (p.Ala448=) c.*1259C>G (n.*1259C>G) c.*875C>G (n.*875C>G) c.1278C>G (p.Ala426=) c.1215C>G (p.Ala405=) c.1284C>G (p.Ala428=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6472560G= | CA1142896217 | PLEKHG5 | c.1047C= (p.Ala349=) c.1221C= (p.Ala407=) c.1158C= (p.Ala386=) n.1523C= c.1254C= (p.Ala418=) c.1344C= (p.Ala448=) c.*1259C= (n.*1259C=) c.*875C= (n.*875C=) c.1278C= (p.Ala426=) c.1215C= (p.Ala405=) c.1284C= (p.Ala428=) | |
1 | g.6472560G>T | CA415832587 | PLEKHG5 | c.1047C>A (p.Ala349=) c.1221C>A (p.Ala407=) c.1158C>A (p.Ala386=) n.1523C>A c.1254C>A (p.Ala418=) c.1344C>A (p.Ala448=) c.*1259C>A (n.*1259C>A) c.*875C>A (n.*875C>A) c.1278C>A (p.Ala426=) c.1215C>A (p.Ala405=) c.1284C>A (p.Ala428=) | |
1 | g.6472561G>A | CA338132652 | PLEKHG5 | c.1046C>T (p.Ala349Val) c.1220C>T (p.Ala407Val) c.1157C>T (p.Ala386Val) n.1522C>T c.1253C>T (p.Ala418Val) c.1343C>T (p.Ala448Val) c.*1258C>T (n.*1258C>T) c.*874C>T (n.*874C>T) c.1277C>T (p.Ala426Val) c.1214C>T (p.Ala405Val) c.1283C>T (p.Ala428Val) | gnomAD v4 |
1 | g.6472561G>C | CA338132655 | PLEKHG5 | c.1046C>G (p.Ala349Gly) c.1220C>G (p.Ala407Gly) c.1157C>G (p.Ala386Gly) n.1522C>G c.1253C>G (p.Ala418Gly) c.1343C>G (p.Ala448Gly) c.*1258C>G (n.*1258C>G) c.*874C>G (n.*874C>G) c.1277C>G (p.Ala426Gly) c.1214C>G (p.Ala405Gly) c.1283C>G (p.Ala428Gly) | |
1 | g.6472561G>T | CA338132661 | PLEKHG5 | c.1046C>A (p.Ala349Asp) c.1220C>A (p.Ala407Asp) c.1157C>A (p.Ala386Asp) n.1522C>A c.1253C>A (p.Ala418Asp) c.1343C>A (p.Ala448Asp) c.*1258C>A (n.*1258C>A) c.*874C>A (n.*874C>A) c.1277C>A (p.Ala426Asp) c.1214C>A (p.Ala405Asp) c.1283C>A (p.Ala428Asp) | |
1 | g.6472567_6472593del | CA2580611052 | PLEKHG5 | c.1020_1046del (p.Val341_Ala349del) c.1194_1220del (p.Val399_Ala407del) c.1131_1157del (p.Val378_Ala386del) n.1496_1522del c.1227_1253del (p.Val410_Ala418del) c.1317_1343del (p.Val440_Ala448del) c.*1232_*1258del (n.*1232_*1258del) c.*848_*874del (n.*848_*874del) c.1251_1277del (p.Val418_Ala426del) c.1188_1214del (p.Val397_Ala405del) c.1257_1283del (p.Val420_Ala428del) | |
1 | g.6472562C>A | CA338132668 | PLEKHG5 | c.1045G>T (p.Ala349Ser) c.1219G>T (p.Ala407Ser) c.1156G>T (p.Ala386Ser) n.1521G>T c.1252G>T (p.Ala418Ser) c.1342G>T (p.Ala448Ser) c.*1257G>T (n.*1257G>T) c.*873G>T (n.*873G>T) c.1276G>T (p.Ala426Ser) c.1213G>T (p.Ala405Ser) c.1282G>T (p.Ala428Ser) | |
1 | g.6472562C= | CA1151501953 | PLEKHG5 | c.1045G= (p.Ala349=) c.1219G= (p.Ala407=) c.1156G= (p.Ala386=) n.1521G= c.1252G= (p.Ala418=) c.1342G= (p.Ala448=) c.*1257G= (n.*1257G=) c.*873G= (n.*873G=) c.1276G= (p.Ala426=) c.1213G= (p.Ala405=) c.1282G= (p.Ala428=) | |
1 | g.6472562C>G | CA338132664 | PLEKHG5 | c.1045G>C (p.Ala349Pro) c.1219G>C (p.Ala407Pro) c.1156G>C (p.Ala386Pro) n.1521G>C c.1252G>C (p.Ala418Pro) c.1342G>C (p.Ala448Pro) c.*1257G>C (n.*1257G>C) c.*873G>C (n.*873G>C) c.1276G>C (p.Ala426Pro) c.1213G>C (p.Ala405Pro) c.1282G>C (p.Ala428Pro) | |
1 | g.6472562C>T | CA17241066 | PLEKHG5 | c.1045G>A (p.Ala349Thr) c.1219G>A (p.Ala407Thr) c.1156G>A (p.Ala386Thr) n.1521G>A c.1252G>A (p.Ala418Thr) c.1342G>A (p.Ala448Thr) c.*1257G>A (n.*1257G>A) c.*873G>A (n.*873G>A) c.1276G>A (p.Ala426Thr) c.1213G>A (p.Ala405Thr) c.1282G>A (p.Ala428Thr) | dbSNP |
1 | g.6472563C>A | CA338132670 | PLEKHG5 | c.1044G>T (p.Glu348Asp) c.1218G>T (p.Glu406Asp) c.1155G>T (p.Glu385Asp) n.1520G>T c.1251G>T (p.Glu417Asp) c.1341G>T (p.Glu447Asp) c.*1256G>T (n.*1256G>T) c.*872G>T (n.*872G>T) c.1275G>T (p.Glu425Asp) c.1212G>T (p.Glu404Asp) c.1281G>T (p.Glu427Asp) | |
1 | g.6472563C= | CA1151501956 | PLEKHG5 | c.1044G= (p.Glu348=) c.1218G= (p.Glu406=) c.1155G= (p.Glu385=) n.1520G= c.1251G= (p.Glu417=) c.1341G= (p.Glu447=) c.*1256G= (n.*1256G=) c.*872G= (n.*872G=) c.1275G= (p.Glu425=) c.1212G= (p.Glu404=) c.1281G= (p.Glu427=) | |
1 | g.6472563C>G | CA338132672 | PLEKHG5 | c.1044G>C (p.Glu348Asp) c.1218G>C (p.Glu406Asp) c.1155G>C (p.Glu385Asp) n.1520G>C c.1251G>C (p.Glu417Asp) c.1341G>C (p.Glu447Asp) c.*1256G>C (n.*1256G>C) c.*872G>C (n.*872G>C) c.1275G>C (p.Glu425Asp) c.1212G>C (p.Glu404Asp) c.1281G>C (p.Glu427Asp) | |
1 | g.6472563C>T | CA415832593 | PLEKHG5 | c.1044G>A (p.Glu348=) c.1218G>A (p.Glu406=) c.1155G>A (p.Glu385=) n.1520G>A c.1251G>A (p.Glu417=) c.1341G>A (p.Glu447=) c.*1256G>A (n.*1256G>A) c.*872G>A (n.*872G>A) c.1275G>A (p.Glu425=) c.1212G>A (p.Glu404=) c.1281G>A (p.Glu427=) | dbSNP |
1 | g.6472564T>A | CA338132675 | PLEKHG5 | c.1043A>T (p.Glu348Val) c.1217A>T (p.Glu406Val) c.1154A>T (p.Glu385Val) n.1519A>T c.1250A>T (p.Glu417Val) c.1340A>T (p.Glu447Val) c.*1255A>T (n.*1255A>T) c.*871A>T (n.*871A>T) c.1274A>T (p.Glu425Val) c.1211A>T (p.Glu404Val) c.1280A>T (p.Glu427Val) | |
1 | g.6472564T>C | CA338132680 | PLEKHG5 | c.1043A>G (p.Glu348Gly) c.1217A>G (p.Glu406Gly) c.1154A>G (p.Glu385Gly) n.1519A>G c.1250A>G (p.Glu417Gly) c.1340A>G (p.Glu447Gly) c.*1255A>G (n.*1255A>G) c.*871A>G (n.*871A>G) c.1274A>G (p.Glu425Gly) c.1211A>G (p.Glu404Gly) c.1280A>G (p.Glu427Gly) | |
1 | g.6472564T>G | CA338132682 | PLEKHG5 | c.1043A>C (p.Glu348Ala) c.1217A>C (p.Glu406Ala) c.1154A>C (p.Glu385Ala) n.1519A>C c.1250A>C (p.Glu417Ala) c.1340A>C (p.Glu447Ala) c.*1255A>C (n.*1255A>C) c.*871A>C (n.*871A>C) c.1274A>C (p.Glu425Ala) c.1211A>C (p.Glu404Ala) c.1280A>C (p.Glu427Ala) | |
1 | g.6472565C>A | CA338132684 | PLEKHG5 | c.1042G>T (p.Glu348Ter) c.1216G>T (p.Glu406Ter) c.1153G>T (p.Glu385Ter) n.1518G>T c.1249G>T (p.Glu417Ter) c.1339G>T (p.Glu447Ter) c.*1254G>T (n.*1254G>T) c.*870G>T (n.*870G>T) c.1273G>T (p.Glu425Ter) c.1210G>T (p.Glu404Ter) c.1279G>T (p.Glu427Ter) | |
1 | g.6472565C>G | CA338132699 | PLEKHG5 | c.1042G>C (p.Glu348Gln) c.1216G>C (p.Glu406Gln) c.1153G>C (p.Glu385Gln) n.1518G>C c.1249G>C (p.Glu417Gln) c.1339G>C (p.Glu447Gln) c.*1254G>C (n.*1254G>C) c.*870G>C (n.*870G>C) c.1273G>C (p.Glu425Gln) c.1210G>C (p.Glu404Gln) c.1279G>C (p.Glu427Gln) | |
1 | g.6472565C>T | CA338132705 | PLEKHG5 | c.1042G>A (p.Glu348Lys) c.1216G>A (p.Glu406Lys) c.1153G>A (p.Glu385Lys) n.1518G>A c.1249G>A (p.Glu417Lys) c.1339G>A (p.Glu447Lys) c.*1254G>A (n.*1254G>A) c.*870G>A (n.*870G>A) c.1273G>A (p.Glu425Lys) c.1210G>A (p.Glu404Lys) c.1279G>A (p.Glu427Lys) | |
1 | g.6472566C>A | CA415832600 | PLEKHG5 | c.1041G>T (p.Thr347=) c.1215G>T (p.Thr405=) c.1152G>T (p.Thr384=) n.1517G>T c.1248G>T (p.Thr416=) c.1338G>T (p.Thr446=) c.*1253G>T (n.*1253G>T) c.*869G>T (n.*869G>T) c.1272G>T (p.Thr424=) c.1209G>T (p.Thr403=) c.1278G>T (p.Thr426=) | dbSNP |
1 | g.6472566C= | CA1151501960 | PLEKHG5 | c.1041G= (p.Thr347=) c.1215G= (p.Thr405=) c.1152G= (p.Thr384=) n.1517G= c.1248G= (p.Thr416=) c.1338G= (p.Thr446=) c.*1253G= (n.*1253G=) c.*869G= (n.*869G=) c.1272G= (p.Thr424=) c.1209G= (p.Thr403=) c.1278G= (p.Thr426=) | |
1 | g.6472566C>G | CA415832602 | PLEKHG5 | c.1041G>C (p.Thr347=) c.1215G>C (p.Thr405=) c.1152G>C (p.Thr384=) n.1517G>C c.1248G>C (p.Thr416=) c.1338G>C (p.Thr446=) c.*1253G>C (n.*1253G>C) c.*869G>C (n.*869G>C) c.1272G>C (p.Thr424=) c.1209G>C (p.Thr403=) c.1278G>C (p.Thr426=) | |
1 | g.6472566C>T | CA561670 | PLEKHG5 | c.1041G>A (p.Thr347=) c.1215G>A (p.Thr405=) c.1152G>A (p.Thr384=) n.1517G>A c.1248G>A (p.Thr416=) c.1338G>A (p.Thr446=) c.*1253G>A (n.*1253G>A) c.*869G>A (n.*869G>A) c.1272G>A (p.Thr424=) c.1209G>A (p.Thr403=) c.1278G>A (p.Thr426=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6472567G>A | CA338132711 | PLEKHG5 | c.1040C>T (p.Thr347Met) c.1214C>T (p.Thr405Met) c.1151C>T (p.Thr384Met) n.1516C>T c.1247C>T (p.Thr416Met) c.1337C>T (p.Thr446Met) c.*1252C>T (n.*1252C>T) c.*868C>T (n.*868C>T) c.1271C>T (p.Thr424Met) c.1208C>T (p.Thr403Met) c.1277C>T (p.Thr426Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.6472567G>C | CA338132714 | PLEKHG5 | c.1040C>G (p.Thr347Arg) c.1214C>G (p.Thr405Arg) c.1151C>G (p.Thr384Arg) n.1516C>G c.1247C>G (p.Thr416Arg) c.1337C>G (p.Thr446Arg) c.*1252C>G (n.*1252C>G) c.*868C>G (n.*868C>G) c.1271C>G (p.Thr424Arg) c.1208C>G (p.Thr403Arg) c.1277C>G (p.Thr426Arg) | |
1 | g.6472567G= | CA1151501964 | PLEKHG5 | c.1040C= (p.Thr347=) c.1214C= (p.Thr405=) c.1151C= (p.Thr384=) n.1516C= c.1247C= (p.Thr416=) c.1337C= (p.Thr446=) c.*1252C= (n.*1252C=) c.*868C= (n.*868C=) c.1271C= (p.Thr424=) c.1208C= (p.Thr403=) c.1277C= (p.Thr426=) | |
1 | g.6472567G>T | CA338132716 | PLEKHG5 | c.1040C>A (p.Thr347Lys) c.1214C>A (p.Thr405Lys) c.1151C>A (p.Thr384Lys) n.1516C>A c.1247C>A (p.Thr416Lys) c.1337C>A (p.Thr446Lys) c.*1252C>A (n.*1252C>A) c.*868C>A (n.*868C>A) c.1271C>A (p.Thr424Lys) c.1208C>A (p.Thr403Lys) c.1277C>A (p.Thr426Lys) | |
1 | g.6472568T>A | CA338132725 | PLEKHG5 | c.1039A>T (p.Thr347Ser) c.1213A>T (p.Thr405Ser) c.1150A>T (p.Thr384Ser) n.1515A>T c.1246A>T (p.Thr416Ser) c.1336A>T (p.Thr446Ser) c.*1251A>T (n.*1251A>T) c.*867A>T (n.*867A>T) c.1270A>T (p.Thr424Ser) c.1207A>T (p.Thr403Ser) c.1276A>T (p.Thr426Ser) | |
1 | g.6472568T>C | CA338132724 | PLEKHG5 | c.1039A>G (p.Thr347Ala) c.1213A>G (p.Thr405Ala) c.1150A>G (p.Thr384Ala) n.1515A>G c.1246A>G (p.Thr416Ala) c.1336A>G (p.Thr446Ala) c.*1251A>G (n.*1251A>G) c.*867A>G (n.*867A>G) c.1270A>G (p.Thr424Ala) c.1207A>G (p.Thr403Ala) c.1276A>G (p.Thr426Ala) | |
1 | g.6472568T>G | CA17241106 | PLEKHG5 | c.1039A>C (p.Thr347Pro) c.1213A>C (p.Thr405Pro) c.1150A>C (p.Thr384Pro) n.1515A>C c.1246A>C (p.Thr416Pro) c.1336A>C (p.Thr446Pro) c.*1251A>C (n.*1251A>C) c.*867A>C (n.*867A>C) c.1270A>C (p.Thr424Pro) c.1207A>C (p.Thr403Pro) c.1276A>C (p.Thr426Pro) | dbSNP |
1 | g.6472568T= | CA1141253828 | PLEKHG5 | c.1039A= (p.Thr347=) c.1213A= (p.Thr405=) c.1150A= (p.Thr384=) n.1515A= c.1246A= (p.Thr416=) c.1336A= (p.Thr446=) c.*1251A= (n.*1251A=) c.*867A= (n.*867A=) c.1270A= (p.Thr424=) c.1207A= (p.Thr403=) c.1276A= (p.Thr426=) | |
1 | g.6472569G>A | CA415832609 | PLEKHG5 | c.1038C>T (p.His346=) c.1212C>T (p.His404=) c.1149C>T (p.His383=) n.1514C>T c.1245C>T (p.His415=) c.1335C>T (p.His445=) c.*1250C>T (n.*1250C>T) c.*866C>T (n.*866C>T) c.1269C>T (p.His423=) c.1206C>T (p.His402=) c.1275C>T (p.His425=) | |
1 | g.6472569G>C | CA338132727 | PLEKHG5 | c.1038C>G (p.His346Gln) c.1212C>G (p.His404Gln) c.1149C>G (p.His383Gln) n.1514C>G c.1245C>G (p.His415Gln) c.1335C>G (p.His445Gln) c.*1250C>G (n.*1250C>G) c.*866C>G (n.*866C>G) c.1269C>G (p.His423Gln) c.1206C>G (p.His402Gln) c.1275C>G (p.His425Gln) | ClinVar dbSNP gnomAD v4 |
1 | g.6472569G= | CA1151501968 | PLEKHG5 | c.1038C= (p.His346=) c.1212C= (p.His404=) c.1149C= (p.His383=) n.1514C= c.1245C= (p.His415=) c.1335C= (p.His445=) c.*1250C= (n.*1250C=) c.*866C= (n.*866C=) c.1269C= (p.His423=) c.1206C= (p.His402=) c.1275C= (p.His425=) | |
1 | g.6472569G>T | CA338132729 | PLEKHG5 | c.1038C>A (p.His346Gln) c.1212C>A (p.His404Gln) c.1149C>A (p.His383Gln) n.1514C>A c.1245C>A (p.His415Gln) c.1335C>A (p.His445Gln) c.*1250C>A (n.*1250C>A) c.*866C>A (n.*866C>A) c.1269C>A (p.His423Gln) c.1206C>A (p.His402Gln) c.1275C>A (p.His425Gln) | |
1 | g.6472570T>A | CA338132731 | PLEKHG5 | c.1037A>T (p.His346Leu) c.1211A>T (p.His404Leu) c.1148A>T (p.His383Leu) n.1513A>T c.1244A>T (p.His415Leu) c.1334A>T (p.His445Leu) c.*1249A>T (n.*1249A>T) c.*865A>T (n.*865A>T) c.1268A>T (p.His423Leu) c.1205A>T (p.His402Leu) c.1274A>T (p.His425Leu) | |
1 | g.6472570T>C | CA338132733 | PLEKHG5 | c.1037A>G (p.His346Arg) c.1211A>G (p.His404Arg) c.1148A>G (p.His383Arg) n.1513A>G c.1244A>G (p.His415Arg) c.1334A>G (p.His445Arg) c.*1249A>G (n.*1249A>G) c.*865A>G (n.*865A>G) c.1268A>G (p.His423Arg) c.1205A>G (p.His402Arg) c.1274A>G (p.His425Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.6472570T>G | CA338132736 | PLEKHG5 | c.1037A>C (p.His346Pro) c.1211A>C (p.His404Pro) c.1148A>C (p.His383Pro) n.1513A>C c.1244A>C (p.His415Pro) c.1334A>C (p.His445Pro) c.*1249A>C (n.*1249A>C) c.*865A>C (n.*865A>C) c.1268A>C (p.His423Pro) c.1205A>C (p.His402Pro) c.1274A>C (p.His425Pro) | gnomAD v4 |
1 | g.6472571G>A | CA338132741 | PLEKHG5 | c.1036C>T (p.His346Tyr) c.1210C>T (p.His404Tyr) c.1147C>T (p.His383Tyr) n.1512C>T c.1243C>T (p.His415Tyr) c.1333C>T (p.His445Tyr) c.*1248C>T (n.*1248C>T) c.*864C>T (n.*864C>T) c.1267C>T (p.His423Tyr) c.1204C>T (p.His402Tyr) c.1273C>T (p.His425Tyr) | |
1 | g.6472571G>C | CA338132749 | PLEKHG5 | c.1036C>G (p.His346Asp) c.1210C>G (p.His404Asp) c.1147C>G (p.His383Asp) n.1512C>G c.1243C>G (p.His415Asp) c.1333C>G (p.His445Asp) c.*1248C>G (n.*1248C>G) c.*864C>G (n.*864C>G) c.1267C>G (p.His423Asp) c.1204C>G (p.His402Asp) c.1273C>G (p.His425Asp) | |
1 | g.6472571G>T | CA338132752 | PLEKHG5 | c.1036C>A (p.His346Asn) c.1210C>A (p.His404Asn) c.1147C>A (p.His383Asn) n.1512C>A c.1243C>A (p.His415Asn) c.1333C>A (p.His445Asn) c.*1248C>A (n.*1248C>A) c.*864C>A (n.*864C>A) c.1267C>A (p.His423Asn) c.1204C>A (p.His402Asn) c.1273C>A (p.His425Asn) | |
1 | g.6472572C>A | CA415832620 | PLEKHG5 | c.1035G>T (p.Leu345=) c.1209G>T (p.Leu403=) c.1146G>T (p.Leu382=) n.1511G>T c.1242G>T (p.Leu414=) c.1332G>T (p.Leu444=) c.*1247G>T (n.*1247G>T) c.*863G>T (n.*863G>T) c.1266G>T (p.Leu422=) c.1203G>T (p.Leu401=) c.1272G>T (p.Leu424=) | |
1 | g.6472572C>G | CA415832619 | PLEKHG5 | c.1035G>C (p.Leu345=) c.1209G>C (p.Leu403=) c.1146G>C (p.Leu382=) n.1511G>C c.1242G>C (p.Leu414=) c.1332G>C (p.Leu444=) c.*1247G>C (n.*1247G>C) c.*863G>C (n.*863G>C) c.1266G>C (p.Leu422=) c.1203G>C (p.Leu401=) c.1272G>C (p.Leu424=) | |
1 | g.6472572C>T | CA415832617 | PLEKHG5 | c.1035G>A (p.Leu345=) c.1209G>A (p.Leu403=) c.1146G>A (p.Leu382=) n.1511G>A c.1242G>A (p.Leu414=) c.1332G>A (p.Leu444=) c.*1247G>A (n.*1247G>A) c.*863G>A (n.*863G>A) c.1266G>A (p.Leu422=) c.1203G>A (p.Leu401=) c.1272G>A (p.Leu424=) | ClinVar gnomAD v4 |
1 | g.6472573A>C | CA338132759 | PLEKHG5 | c.1034T>G (p.Leu345Arg) c.1208T>G (p.Leu403Arg) c.1145T>G (p.Leu382Arg) n.1510T>G c.1241T>G (p.Leu414Arg) c.1331T>G (p.Leu444Arg) c.*1246T>G (n.*1246T>G) c.*862T>G (n.*862T>G) c.1265T>G (p.Leu422Arg) c.1202T>G (p.Leu401Arg) c.1271T>G (p.Leu424Arg) | |
1 | g.6472573A>G | CA338132761 | PLEKHG5 | c.1034T>C (p.Leu345Pro) c.1208T>C (p.Leu403Pro) c.1145T>C (p.Leu382Pro) n.1510T>C c.1241T>C (p.Leu414Pro) c.1331T>C (p.Leu444Pro) c.*1246T>C (n.*1246T>C) c.*862T>C (n.*862T>C) c.1265T>C (p.Leu422Pro) c.1202T>C (p.Leu401Pro) c.1271T>C (p.Leu424Pro) | |
1 | g.6472573A>T | CA338132762 | PLEKHG5 | c.1034T>A (p.Leu345Gln) c.1208T>A (p.Leu403Gln) c.1145T>A (p.Leu382Gln) n.1510T>A c.1241T>A (p.Leu414Gln) c.1331T>A (p.Leu444Gln) c.*1246T>A (n.*1246T>A) c.*862T>A (n.*862T>A) c.1265T>A (p.Leu422Gln) c.1202T>A (p.Leu401Gln) c.1271T>A (p.Leu424Gln) | |
1 | g.6472574G>A | CA415832625 | PLEKHG5 | c.1033C>T (p.Leu345=) c.1207C>T (p.Leu403=) c.1144C>T (p.Leu382=) n.1509C>T c.1240C>T (p.Leu414=) c.1330C>T (p.Leu444=) c.*1245C>T (n.*1245C>T) c.*861C>T (n.*861C>T) c.1264C>T (p.Leu422=) c.1201C>T (p.Leu401=) c.1270C>T (p.Leu424=) | ClinVar |
1 | g.6472574G>C | CA338132769 | PLEKHG5 | c.1033C>G (p.Leu345Val) c.1207C>G (p.Leu403Val) c.1144C>G (p.Leu382Val) n.1509C>G c.1240C>G (p.Leu414Val) c.1330C>G (p.Leu444Val) c.*1245C>G (n.*1245C>G) c.*861C>G (n.*861C>G) c.1264C>G (p.Leu422Val) c.1201C>G (p.Leu401Val) c.1270C>G (p.Leu424Val) | |
1 | g.6472574G>T | CA338132771 | PLEKHG5 | c.1033C>A (p.Leu345Met) c.1207C>A (p.Leu403Met) c.1144C>A (p.Leu382Met) n.1509C>A c.1240C>A (p.Leu414Met) c.1330C>A (p.Leu444Met) c.*1245C>A (n.*1245C>A) c.*861C>A (n.*861C>A) c.1264C>A (p.Leu422Met) c.1201C>A (p.Leu401Met) c.1270C>A (p.Leu424Met) | |
1 | g.6472575C>A | CA415832628 | PLEKHG5 | c.1032G>T (p.Leu344=) c.1206G>T (p.Leu402=) c.1143G>T (p.Leu381=) n.1508G>T c.1239G>T (p.Leu413=) c.1329G>T (p.Leu443=) c.*1244G>T (n.*1244G>T) c.*860G>T (n.*860G>T) c.1263G>T (p.Leu421=) c.1200G>T (p.Leu400=) c.1269G>T (p.Leu423=) | ClinVar |
1 | g.6472575C>G | CA415832630 | PLEKHG5 | c.1032G>C (p.Leu344=) c.1206G>C (p.Leu402=) c.1143G>C (p.Leu381=) n.1508G>C c.1239G>C (p.Leu413=) c.1329G>C (p.Leu443=) c.*1244G>C (n.*1244G>C) c.*860G>C (n.*860G>C) c.1263G>C (p.Leu421=) c.1200G>C (p.Leu400=) c.1269G>C (p.Leu423=) | |
1 | g.6472575C>T | CA415832631 | PLEKHG5 | c.1032G>A (p.Leu344=) c.1206G>A (p.Leu402=) c.1143G>A (p.Leu381=) n.1508G>A c.1239G>A (p.Leu413=) c.1329G>A (p.Leu443=) c.*1244G>A (n.*1244G>A) c.*860G>A (n.*860G>A) c.1263G>A (p.Leu421=) c.1200G>A (p.Leu400=) c.1269G>A (p.Leu423=) | gnomAD v4 |
1 | g.6472576A>C | CA338132788 | PLEKHG5 | c.1031T>G (p.Leu344Arg) c.1205T>G (p.Leu402Arg) c.1142T>G (p.Leu381Arg) n.1507T>G c.1238T>G (p.Leu413Arg) c.1328T>G (p.Leu443Arg) c.*1243T>G (n.*1243T>G) c.*859T>G (n.*859T>G) c.1262T>G (p.Leu421Arg) c.1199T>G (p.Leu400Arg) c.1268T>G (p.Leu423Arg) | |
1 | g.6472576A>G | CA338132782 | PLEKHG5 | c.1031T>C (p.Leu344Pro) c.1205T>C (p.Leu402Pro) c.1142T>C (p.Leu381Pro) n.1507T>C c.1238T>C (p.Leu413Pro) c.1328T>C (p.Leu443Pro) c.*1243T>C (n.*1243T>C) c.*859T>C (n.*859T>C) c.1262T>C (p.Leu421Pro) c.1199T>C (p.Leu400Pro) c.1268T>C (p.Leu423Pro) | |
1 | g.6472576A>T | CA338132780 | PLEKHG5 | c.1031T>A (p.Leu344Gln) c.1205T>A (p.Leu402Gln) c.1142T>A (p.Leu381Gln) n.1507T>A c.1238T>A (p.Leu413Gln) c.1328T>A (p.Leu443Gln) c.*1243T>A (n.*1243T>A) c.*859T>A (n.*859T>A) c.1262T>A (p.Leu421Gln) c.1199T>A (p.Leu400Gln) c.1268T>A (p.Leu423Gln) | |
1 | g.6472577G>A | CA415832637 | PLEKHG5 | c.1030C>T (p.Leu344=) c.1204C>T (p.Leu402=) c.1141C>T (p.Leu381=) n.1506C>T c.1237C>T (p.Leu413=) c.1327C>T (p.Leu443=) c.*1242C>T (n.*1242C>T) c.*858C>T (n.*858C>T) c.1261C>T (p.Leu421=) c.1198C>T (p.Leu400=) c.1267C>T (p.Leu423=) | gnomAD v4 |
1 | g.6472577G>C | CA338132790 | PLEKHG5 | c.1030C>G (p.Leu344Val) c.1204C>G (p.Leu402Val) c.1141C>G (p.Leu381Val) n.1506C>G c.1237C>G (p.Leu413Val) c.1327C>G (p.Leu443Val) c.*1242C>G (n.*1242C>G) c.*858C>G (n.*858C>G) c.1261C>G (p.Leu421Val) c.1198C>G (p.Leu400Val) c.1267C>G (p.Leu423Val) | |
1 | g.6472577G>T | CA338132792 | PLEKHG5 | c.1030C>A (p.Leu344Met) c.1204C>A (p.Leu402Met) c.1141C>A (p.Leu381Met) n.1506C>A c.1237C>A (p.Leu413Met) c.1327C>A (p.Leu443Met) c.*1242C>A (n.*1242C>A) c.*858C>A (n.*858C>A) c.1261C>A (p.Leu421Met) c.1198C>A (p.Leu400Met) c.1267C>A (p.Leu423Met) | |
1 | g.6472578C>A | CA338132796 | PLEKHG5 | c.1029G>T (p.Glu343Asp) c.1203G>T (p.Glu401Asp) c.1140G>T (p.Glu380Asp) n.1505G>T c.1236G>T (p.Glu412Asp) c.1326G>T (p.Glu442Asp) c.*1241G>T (n.*1241G>T) c.*857G>T (n.*857G>T) c.1260G>T (p.Glu420Asp) c.1197G>T (p.Glu399Asp) c.1266G>T (p.Glu422Asp) | |
1 | g.6472578C>G | CA338132799 | PLEKHG5 | c.1029G>C (p.Glu343Asp) c.1203G>C (p.Glu401Asp) c.1140G>C (p.Glu380Asp) n.1505G>C c.1236G>C (p.Glu412Asp) c.1326G>C (p.Glu442Asp) c.*1241G>C (n.*1241G>C) c.*857G>C (n.*857G>C) c.1260G>C (p.Glu420Asp) c.1197G>C (p.Glu399Asp) c.1266G>C (p.Glu422Asp) | |
1 | g.6472578C>T | CA415832643 | PLEKHG5 | c.1029G>A (p.Glu343=) c.1203G>A (p.Glu401=) c.1140G>A (p.Glu380=) n.1505G>A c.1236G>A (p.Glu412=) c.1326G>A (p.Glu442=) c.*1241G>A (n.*1241G>A) c.*857G>A (n.*857G>A) c.1260G>A (p.Glu420=) c.1197G>A (p.Glu399=) c.1266G>A (p.Glu422=) | ClinVar |
1 | g.6472579T>A | CA338132803 | PLEKHG5 | c.1028A>T (p.Glu343Val) c.1202A>T (p.Glu401Val) c.1139A>T (p.Glu380Val) n.1504A>T c.1235A>T (p.Glu412Val) c.1325A>T (p.Glu442Val) c.*1240A>T (n.*1240A>T) c.*856A>T (n.*856A>T) c.1259A>T (p.Glu420Val) c.1196A>T (p.Glu399Val) c.1265A>T (p.Glu422Val) | |
1 | g.6472579T>C | CA338132805 | PLEKHG5 | c.1028A>G (p.Glu343Gly) c.1202A>G (p.Glu401Gly) c.1139A>G (p.Glu380Gly) n.1504A>G c.1235A>G (p.Glu412Gly) c.1325A>G (p.Glu442Gly) c.*1240A>G (n.*1240A>G) c.*856A>G (n.*856A>G) c.1259A>G (p.Glu420Gly) c.1196A>G (p.Glu399Gly) c.1265A>G (p.Glu422Gly) | |
1 | g.6472579T>G | CA338132807 | PLEKHG5 | c.1028A>C (p.Glu343Ala) c.1202A>C (p.Glu401Ala) c.1139A>C (p.Glu380Ala) n.1504A>C c.1235A>C (p.Glu412Ala) c.1325A>C (p.Glu442Ala) c.*1240A>C (n.*1240A>C) c.*856A>C (n.*856A>C) c.1259A>C (p.Glu420Ala) c.1196A>C (p.Glu399Ala) c.1265A>C (p.Glu422Ala) | |
1 | g.6472580C>A | CA338132809 | PLEKHG5 | c.1027G>T (p.Glu343Ter) c.1201G>T (p.Glu401Ter) c.1138G>T (p.Glu380Ter) n.1503G>T c.1234G>T (p.Glu412Ter) c.1324G>T (p.Glu442Ter) c.*1239G>T (n.*1239G>T) c.*855G>T (n.*855G>T) c.1258G>T (p.Glu420Ter) c.1195G>T (p.Glu399Ter) c.1264G>T (p.Glu422Ter) | |
1 | g.6472580C>G | CA338132813 | PLEKHG5 | c.1027G>C (p.Glu343Gln) c.1201G>C (p.Glu401Gln) c.1138G>C (p.Glu380Gln) n.1503G>C c.1234G>C (p.Glu412Gln) c.1324G>C (p.Glu442Gln) c.*1239G>C (n.*1239G>C) c.*855G>C (n.*855G>C) c.1258G>C (p.Glu420Gln) c.1195G>C (p.Glu399Gln) c.1264G>C (p.Glu422Gln) | |
1 | g.6472580C>T | CA338132816 | PLEKHG5 | c.1027G>A (p.Glu343Lys) c.1201G>A (p.Glu401Lys) c.1138G>A (p.Glu380Lys) n.1503G>A c.1234G>A (p.Glu412Lys) c.1324G>A (p.Glu442Lys) c.*1239G>A (n.*1239G>A) c.*855G>A (n.*855G>A) c.1258G>A (p.Glu420Lys) c.1195G>A (p.Glu399Lys) c.1264G>A (p.Glu422Lys) | |
1 | g.6472581C>A | CA338132819 | PLEKHG5 | c.1026G>T (p.Trp342Cys) c.1200G>T (p.Trp400Cys) c.1137G>T (p.Trp379Cys) n.1502G>T c.1233G>T (p.Trp411Cys) c.1323G>T (p.Trp441Cys) c.*1238G>T (n.*1238G>T) c.*854G>T (n.*854G>T) c.1257G>T (p.Trp419Cys) c.1194G>T (p.Trp398Cys) c.1263G>T (p.Trp421Cys) | |
1 | g.6472581C>G | CA338132822 | PLEKHG5 | c.1026G>C (p.Trp342Cys) c.1200G>C (p.Trp400Cys) c.1137G>C (p.Trp379Cys) n.1502G>C c.1233G>C (p.Trp411Cys) c.1323G>C (p.Trp441Cys) c.*1238G>C (n.*1238G>C) c.*854G>C (n.*854G>C) c.1257G>C (p.Trp419Cys) c.1194G>C (p.Trp398Cys) c.1263G>C (p.Trp421Cys) | |
1 | g.6472581C>T | CA338132829 | PLEKHG5 | c.1026G>A (p.Trp342Ter) c.1200G>A (p.Trp400Ter) c.1137G>A (p.Trp379Ter) n.1502G>A c.1233G>A (p.Trp411Ter) c.1323G>A (p.Trp441Ter) c.*1238G>A (n.*1238G>A) c.*854G>A (n.*854G>A) c.1257G>A (p.Trp419Ter) c.1194G>A (p.Trp398Ter) c.1263G>A (p.Trp421Ter) | COSMIC COSMIC COSMIC |
1 | g.6472582C>A | CA338132840 | PLEKHG5 | c.1025G>T (p.Trp342Leu) c.1199G>T (p.Trp400Leu) c.1136G>T (p.Trp379Leu) n.1501G>T c.1232G>T (p.Trp411Leu) c.1322G>T (p.Trp441Leu) c.*1237G>T (n.*1237G>T) c.*853G>T (n.*853G>T) c.1256G>T (p.Trp419Leu) c.1193G>T (p.Trp398Leu) c.1262G>T (p.Trp421Leu) | |
1 | g.6472582C>G | CA338132837 | PLEKHG5 | c.1025G>C (p.Trp342Ser) c.1199G>C (p.Trp400Ser) c.1136G>C (p.Trp379Ser) n.1501G>C c.1232G>C (p.Trp411Ser) c.1322G>C (p.Trp441Ser) c.*1237G>C (n.*1237G>C) c.*853G>C (n.*853G>C) c.1256G>C (p.Trp419Ser) c.1193G>C (p.Trp398Ser) c.1262G>C (p.Trp421Ser) | |
1 | g.6472582C>T | CA338132834 | PLEKHG5 | c.1025G>A (p.Trp342Ter) c.1199G>A (p.Trp400Ter) c.1136G>A (p.Trp379Ter) n.1501G>A c.1232G>A (p.Trp411Ter) c.1322G>A (p.Trp441Ter) c.*1237G>A (n.*1237G>A) c.*853G>A (n.*853G>A) c.1256G>A (p.Trp419Ter) c.1193G>A (p.Trp398Ter) c.1262G>A (p.Trp421Ter) | |
1 | g.6472583A>C | CA338132844 | PLEKHG5 | c.1024T>G (p.Trp342Gly) c.1198T>G (p.Trp400Gly) c.1135T>G (p.Trp379Gly) n.1500T>G c.1231T>G (p.Trp411Gly) c.1321T>G (p.Trp441Gly) c.*1236T>G (n.*1236T>G) c.*852T>G (n.*852T>G) c.1255T>G (p.Trp419Gly) c.1192T>G (p.Trp398Gly) c.1261T>G (p.Trp421Gly) | |
1 | g.6472583A>G | CA338132847 | PLEKHG5 | c.1024T>C (p.Trp342Arg) c.1198T>C (p.Trp400Arg) c.1135T>C (p.Trp379Arg) n.1500T>C c.1231T>C (p.Trp411Arg) c.1321T>C (p.Trp441Arg) c.*1236T>C (n.*1236T>C) c.*852T>C (n.*852T>C) c.1255T>C (p.Trp419Arg) c.1192T>C (p.Trp398Arg) c.1261T>C (p.Trp421Arg) | |
1 | g.6472583A>T | CA338132850 | PLEKHG5 | c.1024T>A (p.Trp342Arg) c.1198T>A (p.Trp400Arg) c.1135T>A (p.Trp379Arg) n.1500T>A c.1231T>A (p.Trp411Arg) c.1321T>A (p.Trp441Arg) c.*1236T>A (n.*1236T>A) c.*852T>A (n.*852T>A) c.1255T>A (p.Trp419Arg) c.1192T>A (p.Trp398Arg) c.1261T>A (p.Trp421Arg) | |
1 | g.6472584C>A | CA415832659 | PLEKHG5 | c.1023G>T (p.Val341=) c.1197G>T (p.Val399=) c.1134G>T (p.Val378=) n.1499G>T c.1230G>T (p.Val410=) c.1320G>T (p.Val440=) c.*1235G>T (n.*1235G>T) c.*851G>T (n.*851G>T) c.1254G>T (p.Val418=) c.1191G>T (p.Val397=) c.1260G>T (p.Val420=) | |
1 | g.6472584C= | CA1143381563 | PLEKHG5 | c.1023G= (p.Val341=) c.1197G= (p.Val399=) c.1134G= (p.Val378=) n.1499G= c.1230G= (p.Val410=) c.1320G= (p.Val440=) c.*1235G= (n.*1235G=) c.*851G= (n.*851G=) c.1254G= (p.Val418=) c.1191G= (p.Val397=) c.1260G= (p.Val420=) | |
1 | g.6472584C>G | CA415832660 | PLEKHG5 | c.1023G>C (p.Val341=) c.1197G>C (p.Val399=) c.1134G>C (p.Val378=) n.1499G>C c.1230G>C (p.Val410=) c.1320G>C (p.Val440=) c.*1235G>C (n.*1235G>C) c.*851G>C (n.*851G>C) c.1254G>C (p.Val418=) c.1191G>C (p.Val397=) c.1260G>C (p.Val420=) | |
1 | g.6472584C>T | CA561671 | PLEKHG5 | c.1023G>A (p.Val341=) c.1197G>A (p.Val399=) c.1134G>A (p.Val378=) n.1499G>A c.1230G>A (p.Val410=) c.1320G>A (p.Val440=) c.*1235G>A (n.*1235G>A) c.*851G>A (n.*851G>A) c.1254G>A (p.Val418=) c.1191G>A (p.Val397=) c.1260G>A (p.Val420=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6472585A>C | CA338132857 | PLEKHG5 | c.1022T>G (p.Val341Gly) c.1196T>G (p.Val399Gly) c.1133T>G (p.Val378Gly) n.1498T>G c.1229T>G (p.Val410Gly) c.1319T>G (p.Val440Gly) c.*1234T>G (n.*1234T>G) c.*850T>G (n.*850T>G) c.1253T>G (p.Val418Gly) c.1190T>G (p.Val397Gly) c.1259T>G (p.Val420Gly) | |
1 | g.6472585A>G | CA338132873 | PLEKHG5 | c.1022T>C (p.Val341Ala) c.1196T>C (p.Val399Ala) c.1133T>C (p.Val378Ala) n.1498T>C c.1229T>C (p.Val410Ala) c.1319T>C (p.Val440Ala) c.*1234T>C (n.*1234T>C) c.*850T>C (n.*850T>C) c.1253T>C (p.Val418Ala) c.1190T>C (p.Val397Ala) c.1259T>C (p.Val420Ala) | |
1 | g.6472585A>T | CA338132876 | PLEKHG5 | c.1022T>A (p.Val341Glu) c.1196T>A (p.Val399Glu) c.1133T>A (p.Val378Glu) n.1498T>A c.1229T>A (p.Val410Glu) c.1319T>A (p.Val440Glu) c.*1234T>A (n.*1234T>A) c.*850T>A (n.*850T>A) c.1253T>A (p.Val418Glu) c.1190T>A (p.Val397Glu) c.1259T>A (p.Val420Glu) | |
1 | g.6472586C>A | CA17241155 | PLEKHG5 | c.1021G>T (p.Val341Leu) c.1195G>T (p.Val399Leu) c.1132G>T (p.Val378Leu) n.1497G>T c.1228G>T (p.Val410Leu) c.1318G>T (p.Val440Leu) c.*1233G>T (n.*1233G>T) c.*849G>T (n.*849G>T) c.1252G>T (p.Val418Leu) c.1189G>T (p.Val397Leu) c.1258G>T (p.Val420Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6472586C= | CA1142068923 | PLEKHG5 | c.1021G= (p.Val341=) c.1195G= (p.Val399=) c.1132G= (p.Val378=) n.1497G= c.1228G= (p.Val410=) c.1318G= (p.Val440=) c.*1233G= (n.*1233G=) c.*849G= (n.*849G=) c.1252G= (p.Val418=) c.1189G= (p.Val397=) c.1258G= (p.Val420=) | |
1 | g.6472586C>G | CA338132883 | PLEKHG5 | c.1021G>C (p.Val341Leu) c.1195G>C (p.Val399Leu) c.1132G>C (p.Val378Leu) n.1497G>C c.1228G>C (p.Val410Leu) c.1318G>C (p.Val440Leu) c.*1233G>C (n.*1233G>C) c.*849G>C (n.*849G>C) c.1252G>C (p.Val418Leu) c.1189G>C (p.Val397Leu) c.1258G>C (p.Val420Leu) | |
1 | g.6472586C>T | CA338132886 | PLEKHG5 | c.1021G>A (p.Val341Met) c.1195G>A (p.Val399Met) c.1132G>A (p.Val378Met) n.1497G>A c.1228G>A (p.Val410Met) c.1318G>A (p.Val440Met) c.*1233G>A (n.*1233G>A) c.*849G>A (n.*849G>A) c.1252G>A (p.Val418Met) c.1189G>A (p.Val397Met) c.1258G>A (p.Val420Met) | |
1 | g.6472587C>A | CA415832669 | PLEKHG5 | c.1020G>T (p.Ala340=) c.1194G>T (p.Ala398=) c.1131G>T (p.Ala377=) n.1496G>T c.1227G>T (p.Ala409=) c.1317G>T (p.Ala439=) c.*1232G>T (n.*1232G>T) c.*848G>T (n.*848G>T) c.1251G>T (p.Ala417=) c.1188G>T (p.Ala396=) c.1257G>T (p.Ala419=) | gnomAD v4 |
1 | g.6472587C= | CA1146929163 | PLEKHG5 | c.1020G= (p.Ala340=) c.1194G= (p.Ala398=) c.1131G= (p.Ala377=) n.1496G= c.1227G= (p.Ala409=) c.1317G= (p.Ala439=) c.*1232G= (n.*1232G=) c.*848G= (n.*848G=) c.1251G= (p.Ala417=) c.1188G= (p.Ala396=) c.1257G= (p.Ala419=) | |
1 | g.6472587C>G | CA415832671 | PLEKHG5 | c.1020G>C (p.Ala340=) c.1194G>C (p.Ala398=) c.1131G>C (p.Ala377=) n.1496G>C c.1227G>C (p.Ala409=) c.1317G>C (p.Ala439=) c.*1232G>C (n.*1232G>C) c.*848G>C (n.*848G>C) c.1251G>C (p.Ala417=) c.1188G>C (p.Ala396=) c.1257G>C (p.Ala419=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6472587C>T | CA561672 | PLEKHG5 | c.1020G>A (p.Ala340=) c.1194G>A (p.Ala398=) c.1131G>A (p.Ala377=) n.1496G>A c.1227G>A (p.Ala409=) c.1317G>A (p.Ala439=) c.*1232G>A (n.*1232G>A) c.*848G>A (n.*848G>A) c.1251G>A (p.Ala417=) c.1188G>A (p.Ala396=) c.1257G>A (p.Ala419=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6472588G>A | CA561673 | PLEKHG5 | c.1019C>T (p.Ala340Val) c.1193C>T (p.Ala398Val) c.1130C>T (p.Ala377Val) n.1495C>T c.1226C>T (p.Ala409Val) c.1316C>T (p.Ala439Val) c.*1231C>T (n.*1231C>T) c.*847C>T (n.*847C>T) c.1250C>T (p.Ala417Val) c.1187C>T (p.Ala396Val) c.1256C>T (p.Ala419Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6472588G>C | CA338132898 | PLEKHG5 | c.1019C>G (p.Ala340Gly) c.1193C>G (p.Ala398Gly) c.1130C>G (p.Ala377Gly) n.1495C>G c.1226C>G (p.Ala409Gly) c.1316C>G (p.Ala439Gly) c.*1231C>G (n.*1231C>G) c.*847C>G (n.*847C>G) c.1250C>G (p.Ala417Gly) c.1187C>G (p.Ala396Gly) c.1256C>G (p.Ala419Gly) | |
1 | g.6472588G= | CA1140827844 | PLEKHG5 | c.1019C= (p.Ala340=) c.1193C= (p.Ala398=) c.1130C= (p.Ala377=) n.1495C= c.1226C= (p.Ala409=) c.1316C= (p.Ala439=) c.*1231C= (n.*1231C=) c.*847C= (n.*847C=) c.1250C= (p.Ala417=) c.1187C= (p.Ala396=) c.1256C= (p.Ala419=) | |
1 | g.6472588G>T | CA338132901 | PLEKHG5 | c.1019C>A (p.Ala340Glu) c.1193C>A (p.Ala398Glu) c.1130C>A (p.Ala377Glu) n.1495C>A c.1226C>A (p.Ala409Glu) c.1316C>A (p.Ala439Glu) c.*1231C>A (n.*1231C>A) c.*847C>A (n.*847C>A) c.1250C>A (p.Ala417Glu) c.1187C>A (p.Ala396Glu) c.1256C>A (p.Ala419Glu) | |
1 | g.6472589C>A | CA338132914 | PLEKHG5 | c.1018G>T (p.Ala340Ser) c.1192G>T (p.Ala398Ser) c.1129G>T (p.Ala377Ser) n.1494G>T c.1225G>T (p.Ala409Ser) c.1315G>T (p.Ala439Ser) c.*1230G>T (n.*1230G>T) c.*846G>T (n.*846G>T) c.1249G>T (p.Ala417Ser) c.1186G>T (p.Ala396Ser) c.1255G>T (p.Ala419Ser) | |
1 | g.6472589C>G | CA338132917 | PLEKHG5 | c.1018G>C (p.Ala340Pro) c.1192G>C (p.Ala398Pro) c.1129G>C (p.Ala377Pro) n.1494G>C c.1225G>C (p.Ala409Pro) c.1315G>C (p.Ala439Pro) c.*1230G>C (n.*1230G>C) c.*846G>C (n.*846G>C) c.1249G>C (p.Ala417Pro) c.1186G>C (p.Ala396Pro) c.1255G>C (p.Ala419Pro) | |
1 | g.6472589C>T | CA338132912 | PLEKHG5 | c.1018G>A (p.Ala340Thr) c.1192G>A (p.Ala398Thr) c.1129G>A (p.Ala377Thr) n.1494G>A c.1225G>A (p.Ala409Thr) c.1315G>A (p.Ala439Thr) c.*1230G>A (n.*1230G>A) c.*846G>A (n.*846G>A) c.1249G>A (p.Ala417Thr) c.1186G>A (p.Ala396Thr) c.1255G>A (p.Ala419Thr) | |
1 | g.6472590dup | CA2840114550 | PLEKHG5 | c.1018dup (p.Ala340GlyfsTer?) c.1192dup (p.Ala398GlyfsTer?) c.1129dup (p.Ala377GlyfsTer?) n.1494dup c.1225dup (p.Ala409GlyfsTer?) c.1315dup (p.Ala439GlyfsTer?) c.*1230dup (n.*1230dup) c.*846dup (n.*846dup) c.1249dup (p.Ala417GlyfsTer?) c.1186dup (p.Ala396GlyfsTer?) c.1255dup (p.Ala419GlyfsTer?) | |
1 | g.6472590C>A | CA338132920 | PLEKHG5 | c.1017G>T (p.Glu339Asp) c.1191G>T (p.Glu397Asp) c.1128G>T (p.Glu376Asp) n.1493G>T c.1224G>T (p.Glu408Asp) c.1314G>T (p.Glu438Asp) c.*1229G>T (n.*1229G>T) c.*845G>T (n.*845G>T) c.1248G>T (p.Glu416Asp) c.1185G>T (p.Glu395Asp) c.1254G>T (p.Glu418Asp) | |
1 | g.6472590C>G | CA338132922 | PLEKHG5 | c.1017G>C (p.Glu339Asp) c.1191G>C (p.Glu397Asp) c.1128G>C (p.Glu376Asp) n.1493G>C c.1224G>C (p.Glu408Asp) c.1314G>C (p.Glu438Asp) c.*1229G>C (n.*1229G>C) c.*845G>C (n.*845G>C) c.1248G>C (p.Glu416Asp) c.1185G>C (p.Glu395Asp) c.1254G>C (p.Glu418Asp) | |
1 | g.6472590C>T | CA415832681 | PLEKHG5 | c.1017G>A (p.Glu339=) c.1191G>A (p.Glu397=) c.1128G>A (p.Glu376=) n.1493G>A c.1224G>A (p.Glu408=) c.1314G>A (p.Glu438=) c.*1229G>A (n.*1229G>A) c.*845G>A (n.*845G>A) c.1248G>A (p.Glu416=) c.1185G>A (p.Glu395=) c.1254G>A (p.Glu418=) | |
1 | g.6472591T>A | CA338132924 | PLEKHG5 | c.1016A>T (p.Glu339Val) c.1190A>T (p.Glu397Val) c.1127A>T (p.Glu376Val) n.1492A>T c.1223A>T (p.Glu408Val) c.1313A>T (p.Glu438Val) c.*1228A>T (n.*1228A>T) c.*844A>T (n.*844A>T) c.1247A>T (p.Glu416Val) c.1184A>T (p.Glu395Val) c.1253A>T (p.Glu418Val) | |
1 | g.6472591T>C | CA338132927 | PLEKHG5 | c.1016A>G (p.Glu339Gly) c.1190A>G (p.Glu397Gly) c.1127A>G (p.Glu376Gly) n.1492A>G c.1223A>G (p.Glu408Gly) c.1313A>G (p.Glu438Gly) c.*1228A>G (n.*1228A>G) c.*844A>G (n.*844A>G) c.1247A>G (p.Glu416Gly) c.1184A>G (p.Glu395Gly) c.1253A>G (p.Glu418Gly) | |
1 | g.6472591T>G | CA338132930 | PLEKHG5 | c.1016A>C (p.Glu339Ala) c.1190A>C (p.Glu397Ala) c.1127A>C (p.Glu376Ala) n.1492A>C c.1223A>C (p.Glu408Ala) c.1313A>C (p.Glu438Ala) c.*1228A>C (n.*1228A>C) c.*844A>C (n.*844A>C) c.1247A>C (p.Glu416Ala) c.1184A>C (p.Glu395Ala) c.1253A>C (p.Glu418Ala) | |
1 | g.6472592C>A | CA338132935 | PLEKHG5 | c.1015G>T (p.Glu339Ter) c.1189G>T (p.Glu397Ter) c.1126G>T (p.Glu376Ter) n.1491G>T c.1222G>T (p.Glu408Ter) c.1312G>T (p.Glu438Ter) c.*1227G>T (n.*1227G>T) c.*843G>T (n.*843G>T) c.1246G>T (p.Glu416Ter) c.1183G>T (p.Glu395Ter) c.1252G>T (p.Glu418Ter) | |
1 | g.6472592C>G | CA338132938 | PLEKHG5 | c.1015G>C (p.Glu339Gln) c.1189G>C (p.Glu397Gln) c.1126G>C (p.Glu376Gln) n.1491G>C c.1222G>C (p.Glu408Gln) c.1312G>C (p.Glu438Gln) c.*1227G>C (n.*1227G>C) c.*843G>C (n.*843G>C) c.1246G>C (p.Glu416Gln) c.1183G>C (p.Glu395Gln) c.1252G>C (p.Glu418Gln) | gnomAD v4 |
1 | g.6472592C>T | CA338132941 | PLEKHG5 | c.1015G>A (p.Glu339Lys) c.1189G>A (p.Glu397Lys) c.1126G>A (p.Glu376Lys) n.1491G>A c.1222G>A (p.Glu408Lys) c.1312G>A (p.Glu438Lys) c.*1227G>A (n.*1227G>A) c.*843G>A (n.*843G>A) c.1246G>A (p.Glu416Lys) c.1183G>A (p.Glu395Lys) c.1252G>A (p.Glu418Lys) | COSMIC COSMIC COSMIC |
1 | g.6472593C>A | CA338132945 | PLEKHG5 | c.1014G>T (p.Gln338His) c.1188G>T (p.Gln396His) c.1125G>T (p.Gln375His) n.1490G>T c.1221G>T (p.Gln407His) c.1311G>T (p.Gln437His) c.*1226G>T (n.*1226G>T) c.*842G>T (n.*842G>T) c.1245G>T (p.Gln415His) c.1182G>T (p.Gln394His) c.1251G>T (p.Gln417His) | |
1 | g.6472593C>G | CA338132948 | PLEKHG5 | c.1014G>C (p.Gln338His) c.1188G>C (p.Gln396His) c.1125G>C (p.Gln375His) n.1490G>C c.1221G>C (p.Gln407His) c.1311G>C (p.Gln437His) c.*1226G>C (n.*1226G>C) c.*842G>C (n.*842G>C) c.1245G>C (p.Gln415His) c.1182G>C (p.Gln394His) c.1251G>C (p.Gln417His) | |
1 | g.6472593C>T | CA415832687 | PLEKHG5 | c.1014G>A (p.Gln338=) c.1188G>A (p.Gln396=) c.1125G>A (p.Gln375=) n.1490G>A c.1221G>A (p.Gln407=) c.1311G>A (p.Gln437=) c.*1226G>A (n.*1226G>A) c.*842G>A (n.*842G>A) c.1245G>A (p.Gln415=) c.1182G>A (p.Gln394=) c.1251G>A (p.Gln417=) | |
1 | g.6472594T>A | CA338132949 | PLEKHG5 | c.1013A>T (p.Gln338Leu) c.1187A>T (p.Gln396Leu) c.1124A>T (p.Gln375Leu) n.1489A>T c.1220A>T (p.Gln407Leu) c.1310A>T (p.Gln437Leu) c.*1225A>T (n.*1225A>T) c.*841A>T (n.*841A>T) c.1244A>T (p.Gln415Leu) c.1181A>T (p.Gln394Leu) c.1250A>T (p.Gln417Leu) | |
1 | g.6472594T>C | CA338132952 | PLEKHG5 | c.1013A>G (p.Gln338Arg) c.1187A>G (p.Gln396Arg) c.1124A>G (p.Gln375Arg) n.1489A>G c.1220A>G (p.Gln407Arg) c.1310A>G (p.Gln437Arg) c.*1225A>G (n.*1225A>G) c.*841A>G (n.*841A>G) c.1244A>G (p.Gln415Arg) c.1181A>G (p.Gln394Arg) c.1250A>G (p.Gln417Arg) | ClinVar gnomAD v4 |
1 | g.6472594T>G | CA338132955 | PLEKHG5 | c.1013A>C (p.Gln338Pro) c.1187A>C (p.Gln396Pro) c.1124A>C (p.Gln375Pro) n.1489A>C c.1220A>C (p.Gln407Pro) c.1310A>C (p.Gln437Pro) c.*1225A>C (n.*1225A>C) c.*841A>C (n.*841A>C) c.1244A>C (p.Gln415Pro) c.1181A>C (p.Gln394Pro) c.1250A>C (p.Gln417Pro) | |
1 | g.6472595G>A | CA338132958 | PLEKHG5 | c.1012C>T (p.Gln338Ter) c.1186C>T (p.Gln396Ter) c.1123C>T (p.Gln375Ter) n.1488C>T c.1219C>T (p.Gln407Ter) c.1309C>T (p.Gln437Ter) c.*1224C>T (n.*1224C>T) c.*840C>T (n.*840C>T) c.1243C>T (p.Gln415Ter) c.1180C>T (p.Gln394Ter) c.1249C>T (p.Gln417Ter) | |
1 | g.6472595G>C | CA338132969 | PLEKHG5 | c.1012C>G (p.Gln338Glu) c.1186C>G (p.Gln396Glu) c.1123C>G (p.Gln375Glu) n.1488C>G c.1219C>G (p.Gln407Glu) c.1309C>G (p.Gln437Glu) c.*1224C>G (n.*1224C>G) c.*840C>G (n.*840C>G) c.1243C>G (p.Gln415Glu) c.1180C>G (p.Gln394Glu) c.1249C>G (p.Gln417Glu) | |
1 | g.6472595G>T | CA338132961 | PLEKHG5 | c.1012C>A (p.Gln338Lys) c.1186C>A (p.Gln396Lys) c.1123C>A (p.Gln375Lys) n.1488C>A c.1219C>A (p.Gln407Lys) c.1309C>A (p.Gln437Lys) c.*1224C>A (n.*1224C>A) c.*840C>A (n.*840C>A) c.1243C>A (p.Gln415Lys) c.1180C>A (p.Gln394Lys) c.1249C>A (p.Gln417Lys) | |
1 | g.6472596C>A | CA338132972 | PLEKHG5 | c.1011G>T (p.Gln337His) c.1185G>T (p.Gln395His) c.1122G>T (p.Gln374His) n.1487G>T c.1218G>T (p.Gln406His) c.1308G>T (p.Gln436His) c.*1223G>T (n.*1223G>T) c.*839G>T (n.*839G>T) c.1242G>T (p.Gln414His) c.1179G>T (p.Gln393His) c.1248G>T (p.Gln416His) | |
1 | g.6472596C>G | CA338132978 | PLEKHG5 | c.1011G>C (p.Gln337His) c.1185G>C (p.Gln395His) c.1122G>C (p.Gln374His) n.1487G>C c.1218G>C (p.Gln406His) c.1308G>C (p.Gln436His) c.*1223G>C (n.*1223G>C) c.*839G>C (n.*839G>C) c.1242G>C (p.Gln414His) c.1179G>C (p.Gln393His) c.1248G>C (p.Gln416His) | |
1 | g.6472596C>T | CA415832695 | PLEKHG5 | c.1011G>A (p.Gln337=) c.1185G>A (p.Gln395=) c.1122G>A (p.Gln374=) n.1487G>A c.1218G>A (p.Gln406=) c.1308G>A (p.Gln436=) c.*1223G>A (n.*1223G>A) c.*839G>A (n.*839G>A) c.1242G>A (p.Gln414=) c.1179G>A (p.Gln393=) c.1248G>A (p.Gln416=) | |
1 | g.6472597T>A | CA338132982 | PLEKHG5 | c.1010A>T (p.Gln337Leu) c.1184A>T (p.Gln395Leu) c.1121A>T (p.Gln374Leu) n.1486A>T c.1217A>T (p.Gln406Leu) c.1307A>T (p.Gln436Leu) c.*1222A>T (n.*1222A>T) c.*838A>T (n.*838A>T) c.1241A>T (p.Gln414Leu) c.1178A>T (p.Gln393Leu) c.1247A>T (p.Gln416Leu) | |
1 | g.6472597T>C | CA338132987 | PLEKHG5 | c.1010A>G (p.Gln337Arg) c.1184A>G (p.Gln395Arg) c.1121A>G (p.Gln374Arg) n.1486A>G c.1217A>G (p.Gln406Arg) c.1307A>G (p.Gln436Arg) c.*1222A>G (n.*1222A>G) c.*838A>G (n.*838A>G) c.1241A>G (p.Gln414Arg) c.1178A>G (p.Gln393Arg) c.1247A>G (p.Gln416Arg) | |
1 | g.6472597T>G | CA338132989 | PLEKHG5 | c.1010A>C (p.Gln337Pro) c.1184A>C (p.Gln395Pro) c.1121A>C (p.Gln374Pro) n.1486A>C c.1217A>C (p.Gln406Pro) c.1307A>C (p.Gln436Pro) c.*1222A>C (n.*1222A>C) c.*838A>C (n.*838A>C) c.1241A>C (p.Gln414Pro) c.1178A>C (p.Gln393Pro) c.1247A>C (p.Gln416Pro) | |
1 | g.6472598G>A | CA338132992 | PLEKHG5 | c.1009C>T (p.Gln337Ter) c.1183C>T (p.Gln395Ter) c.1120C>T (p.Gln374Ter) n.1485C>T c.1216C>T (p.Gln406Ter) c.1306C>T (p.Gln436Ter) c.*1221C>T (n.*1221C>T) c.*837C>T (n.*837C>T) c.1240C>T (p.Gln414Ter) c.1177C>T (p.Gln393Ter) c.1246C>T (p.Gln416Ter) | |
1 | g.6472598G>C | CA338132994 | PLEKHG5 | c.1009C>G (p.Gln337Glu) c.1183C>G (p.Gln395Glu) c.1120C>G (p.Gln374Glu) n.1485C>G c.1216C>G (p.Gln406Glu) c.1306C>G (p.Gln436Glu) c.*1221C>G (n.*1221C>G) c.*837C>G (n.*837C>G) c.1240C>G (p.Gln414Glu) c.1177C>G (p.Gln393Glu) c.1246C>G (p.Gln416Glu) | |
1 | g.6472598G>T | CA338132996 | PLEKHG5 | c.1009C>A (p.Gln337Lys) c.1183C>A (p.Gln395Lys) c.1120C>A (p.Gln374Lys) n.1485C>A c.1216C>A (p.Gln406Lys) c.1306C>A (p.Gln436Lys) c.*1221C>A (n.*1221C>A) c.*837C>A (n.*837C>A) c.1240C>A (p.Gln414Lys) c.1177C>A (p.Gln393Lys) c.1246C>A (p.Gln416Lys) | |
1 | g.6472599G>A | CA415832703 | PLEKHG5 | c.1008C>T (p.His336=) c.1182C>T (p.His394=) c.1119C>T (p.His373=) n.1484C>T c.1215C>T (p.His405=) c.1305C>T (p.His435=) c.*1220C>T (n.*1220C>T) c.*836C>T (n.*836C>T) c.1239C>T (p.His413=) c.1176C>T (p.His392=) c.1245C>T (p.His415=) | |
1 | g.6472599G>C | CA338132998 | PLEKHG5 | c.1008C>G (p.His336Gln) c.1182C>G (p.His394Gln) c.1119C>G (p.His373Gln) n.1484C>G c.1215C>G (p.His405Gln) c.1305C>G (p.His435Gln) c.*1220C>G (n.*1220C>G) c.*836C>G (n.*836C>G) c.1239C>G (p.His413Gln) c.1176C>G (p.His392Gln) c.1245C>G (p.His415Gln) | |
1 | g.6472599G>T | CA338133001 | PLEKHG5 | c.1008C>A (p.His336Gln) c.1182C>A (p.His394Gln) c.1119C>A (p.His373Gln) n.1484C>A c.1215C>A (p.His405Gln) c.1305C>A (p.His435Gln) c.*1220C>A (n.*1220C>A) c.*836C>A (n.*836C>A) c.1239C>A (p.His413Gln) c.1176C>A (p.His392Gln) c.1245C>A (p.His415Gln) | |
1 | g.6472600T>A | CA338133004 | PLEKHG5 | c.1007A>T (p.His336Leu) c.1181A>T (p.His394Leu) c.1118A>T (p.His373Leu) n.1483A>T c.1214A>T (p.His405Leu) c.1304A>T (p.His435Leu) c.*1219A>T (n.*1219A>T) c.*835A>T (n.*835A>T) c.1238A>T (p.His413Leu) c.1175A>T (p.His392Leu) c.1244A>T (p.His415Leu) | |
1 | g.6472600T>C | CA338133013 | PLEKHG5 | c.1007A>G (p.His336Arg) c.1181A>G (p.His394Arg) c.1118A>G (p.His373Arg) n.1483A>G c.1214A>G (p.His405Arg) c.1304A>G (p.His435Arg) c.*1219A>G (n.*1219A>G) c.*835A>G (n.*835A>G) c.1238A>G (p.His413Arg) c.1175A>G (p.His392Arg) c.1244A>G (p.His415Arg) | |
1 | g.6472600T>G | CA338133011 | PLEKHG5 | c.1007A>C (p.His336Pro) c.1181A>C (p.His394Pro) c.1118A>C (p.His373Pro) n.1483A>C c.1214A>C (p.His405Pro) c.1304A>C (p.His435Pro) c.*1219A>C (n.*1219A>C) c.*835A>C (n.*835A>C) c.1238A>C (p.His413Pro) c.1175A>C (p.His392Pro) c.1244A>C (p.His415Pro) | |
1 | g.6472601G>A | CA338133016 | PLEKHG5 | c.1006C>T (p.His336Tyr) c.1180C>T (p.His394Tyr) c.1117C>T (p.His373Tyr) n.1482C>T c.1213C>T (p.His405Tyr) c.1303C>T (p.His435Tyr) c.*1218C>T (n.*1218C>T) c.*834C>T (n.*834C>T) c.1237C>T (p.His413Tyr) c.1174C>T (p.His392Tyr) c.1243C>T (p.His415Tyr) | |
1 | g.6472601G>C | CA338133021 | PLEKHG5 | c.1006C>G (p.His336Asp) c.1180C>G (p.His394Asp) c.1117C>G (p.His373Asp) n.1482C>G c.1213C>G (p.His405Asp) c.1303C>G (p.His435Asp) c.*1218C>G (n.*1218C>G) c.*834C>G (n.*834C>G) c.1237C>G (p.His413Asp) c.1174C>G (p.His392Asp) c.1243C>G (p.His415Asp) | |
1 | g.6472601G>T | CA338133019 | PLEKHG5 | c.1006C>A (p.His336Asn) c.1180C>A (p.His394Asn) c.1117C>A (p.His373Asn) n.1482C>A c.1213C>A (p.His405Asn) c.1303C>A (p.His435Asn) c.*1218C>A (n.*1218C>A) c.*834C>A (n.*834C>A) c.1237C>A (p.His413Asn) c.1174C>A (p.His392Asn) c.1243C>A (p.His415Asn) | |
1 | g.6472602G>A | CA415832711 | PLEKHG5 | c.1005C>T (p.Cys335=) c.1179C>T (p.Cys393=) c.1116C>T (p.Cys372=) n.1481C>T c.1212C>T (p.Cys404=) c.1302C>T (p.Cys434=) c.*1217C>T (n.*1217C>T) c.*833C>T (n.*833C>T) c.1236C>T (p.Cys412=) c.1173C>T (p.Cys391=) c.1242C>T (p.Cys414=) | gnomAD v4 |
1 | g.6472602G>C | CA338133024 | PLEKHG5 | c.1005C>G (p.Cys335Trp) c.1179C>G (p.Cys393Trp) c.1116C>G (p.Cys372Trp) n.1481C>G c.1212C>G (p.Cys404Trp) c.1302C>G (p.Cys434Trp) c.*1217C>G (n.*1217C>G) c.*833C>G (n.*833C>G) c.1236C>G (p.Cys412Trp) c.1173C>G (p.Cys391Trp) c.1242C>G (p.Cys414Trp) | gnomAD v4 |
1 | g.6472602G>T | CA338133028 | PLEKHG5 | c.1005C>A (p.Cys335Ter) c.1179C>A (p.Cys393Ter) c.1116C>A (p.Cys372Ter) n.1481C>A c.1212C>A (p.Cys404Ter) c.1302C>A (p.Cys434Ter) c.*1217C>A (n.*1217C>A) c.*833C>A (n.*833C>A) c.1236C>A (p.Cys412Ter) c.1173C>A (p.Cys391Ter) c.1242C>A (p.Cys414Ter) | |
1 | g.6472603C>A | CA338133029 | PLEKHG5 | c.1004G>T (p.Cys335Phe) c.1178G>T (p.Cys393Phe) c.1115G>T (p.Cys372Phe) n.1480G>T c.1211G>T (p.Cys404Phe) c.1301G>T (p.Cys434Phe) c.*1216G>T (n.*1216G>T) c.*832G>T (n.*832G>T) c.1235G>T (p.Cys412Phe) c.1172G>T (p.Cys391Phe) c.1241G>T (p.Cys414Phe) | ClinVar dbSNP gnomAD v4 |
1 | g.6472603C= | CA1151501986 | PLEKHG5 | c.1004G= (p.Cys335=) c.1178G= (p.Cys393=) c.1115G= (p.Cys372=) n.1480G= c.1211G= (p.Cys404=) c.1301G= (p.Cys434=) c.*1216G= (n.*1216G=) c.*832G= (n.*832G=) c.1235G= (p.Cys412=) c.1172G= (p.Cys391=) c.1241G= (p.Cys414=) | |
1 | g.6472603C>G | CA338133030 | PLEKHG5 | c.1004G>C (p.Cys335Ser) c.1178G>C (p.Cys393Ser) c.1115G>C (p.Cys372Ser) n.1480G>C c.1211G>C (p.Cys404Ser) c.1301G>C (p.Cys434Ser) c.*1216G>C (n.*1216G>C) c.*832G>C (n.*832G>C) c.1235G>C (p.Cys412Ser) c.1172G>C (p.Cys391Ser) c.1241G>C (p.Cys414Ser) | |
1 | g.6472603C>T | CA338133031 | PLEKHG5 | c.1004G>A (p.Cys335Tyr) c.1178G>A (p.Cys393Tyr) c.1115G>A (p.Cys372Tyr) n.1480G>A c.1211G>A (p.Cys404Tyr) c.1301G>A (p.Cys434Tyr) c.*1216G>A (n.*1216G>A) c.*832G>A (n.*832G>A) c.1235G>A (p.Cys412Tyr) c.1172G>A (p.Cys391Tyr) c.1241G>A (p.Cys414Tyr) | |
1 | g.6472604A>C | CA338133032 | PLEKHG5 | c.1003T>G (p.Cys335Gly) c.1177T>G (p.Cys393Gly) c.1114T>G (p.Cys372Gly) n.1479T>G c.1210T>G (p.Cys404Gly) c.1300T>G (p.Cys434Gly) c.*1215T>G (n.*1215T>G) c.*831T>G (n.*831T>G) c.1234T>G (p.Cys412Gly) c.1171T>G (p.Cys391Gly) c.1240T>G (p.Cys414Gly) | gnomAD v4 |
1 | g.6472604A>G | CA338133033 | PLEKHG5 | c.1003T>C (p.Cys335Arg) c.1177T>C (p.Cys393Arg) c.1114T>C (p.Cys372Arg) n.1479T>C c.1210T>C (p.Cys404Arg) c.1300T>C (p.Cys434Arg) c.*1215T>C (n.*1215T>C) c.*831T>C (n.*831T>C) c.1234T>C (p.Cys412Arg) c.1171T>C (p.Cys391Arg) c.1240T>C (p.Cys414Arg) | |
1 | g.6472604A>T | CA338133034 | PLEKHG5 | c.1003T>A (p.Cys335Ser) c.1177T>A (p.Cys393Ser) c.1114T>A (p.Cys372Ser) n.1479T>A c.1210T>A (p.Cys404Ser) c.1300T>A (p.Cys434Ser) c.*1215T>A (n.*1215T>A) c.*831T>A (n.*831T>A) c.1234T>A (p.Cys412Ser) c.1171T>A (p.Cys391Ser) c.1240T>A (p.Cys414Ser) | |
1 | g.6472604_6472605delinsAC | CA1151501989 | PLEKHG5 | c.1002_1003delinsGT (p.Gln334=) c.1176_1177delinsGT (p.Gln392=) c.1113_1114delinsGT (p.Gln371=) n.1478_1479delinsGT c.1209_1210delinsGT (p.Gln403=) c.1299_1300delinsGT (p.Gln433=) c.*1214_*1215delinsGT (n.*1214_*1215delinsGT) c.*830_*831delinsGT (n.*830_*831delinsGT) c.1233_1234delinsGT (p.Gln411=) c.1170_1171delinsGT (p.Gln390=) c.1239_1240delinsGT (p.Gln413=) | |
1 | g.6472605del | CA916080224 | PLEKHG5 | c.1002del (p.Gln334HisfsTer24) c.1176del (p.Gln392HisfsTer24) c.1113del (p.Gln371HisfsTer24) n.1478del c.1209del (p.Gln403HisfsTer24) c.1299del (p.Gln433HisfsTer24) c.*1214del (n.*1214del) c.*830del (n.*830del) c.1233del (p.Gln411HisfsTer24) c.1170del (p.Gln390HisfsTer24) c.1239del (p.Gln413HisfsTer24) | ClinVar dbSNP |
1 | g.6472605C>A | CA338133036 | PLEKHG5 | c.1002G>T (p.Gln334His) c.1176G>T (p.Gln392His) c.1113G>T (p.Gln371His) n.1478G>T c.1209G>T (p.Gln403His) c.1299G>T (p.Gln433His) c.*1214G>T (n.*1214G>T) c.*830G>T (n.*830G>T) c.1233G>T (p.Gln411His) c.1170G>T (p.Gln390His) c.1239G>T (p.Gln413His) | |
1 | g.6472605C= | CA1151502001 | PLEKHG5 | c.1002G= (p.Gln334=) c.1176G= (p.Gln392=) c.1113G= (p.Gln371=) n.1478G= c.1209G= (p.Gln403=) c.1299G= (p.Gln433=) c.*1214G= (n.*1214G=) c.*830G= (n.*830G=) c.1233G= (p.Gln411=) c.1170G= (p.Gln390=) c.1239G= (p.Gln413=) | |
1 | g.6472605C>G | CA338133038 | PLEKHG5 | c.1002G>C (p.Gln334His) c.1176G>C (p.Gln392His) c.1113G>C (p.Gln371His) n.1478G>C c.1209G>C (p.Gln403His) c.1299G>C (p.Gln433His) c.*1214G>C (n.*1214G>C) c.*830G>C (n.*830G>C) c.1233G>C (p.Gln411His) c.1170G>C (p.Gln390His) c.1239G>C (p.Gln413His) | |
1 | g.6472605C>T | CA415832719 | PLEKHG5 | c.1002G>A (p.Gln334=) c.1176G>A (p.Gln392=) c.1113G>A (p.Gln371=) n.1478G>A c.1209G>A (p.Gln403=) c.1299G>A (p.Gln433=) c.*1214G>A (n.*1214G>A) c.*830G>A (n.*830G>A) c.1233G>A (p.Gln411=) c.1170G>A (p.Gln390=) c.1239G>A (p.Gln413=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.6472606T>A | CA338133040 | PLEKHG5 | c.1001A>T (p.Gln334Leu) c.1175A>T (p.Gln392Leu) c.1112A>T (p.Gln371Leu) n.1477A>T c.1208A>T (p.Gln403Leu) c.1298A>T (p.Gln433Leu) c.*1213A>T (n.*1213A>T) c.*829A>T (n.*829A>T) c.1232A>T (p.Gln411Leu) c.1169A>T (p.Gln390Leu) c.1238A>T (p.Gln413Leu) | |
1 | g.6472606T>C | CA338133043 | PLEKHG5 | c.1001A>G (p.Gln334Arg) c.1175A>G (p.Gln392Arg) c.1112A>G (p.Gln371Arg) n.1477A>G c.1208A>G (p.Gln403Arg) c.1298A>G (p.Gln433Arg) c.*1213A>G (n.*1213A>G) c.*829A>G (n.*829A>G) c.1232A>G (p.Gln411Arg) c.1169A>G (p.Gln390Arg) c.1238A>G (p.Gln413Arg) | |
1 | g.6472606T>G | CA338133045 | PLEKHG5 | c.1001A>C (p.Gln334Pro) c.1175A>C (p.Gln392Pro) c.1112A>C (p.Gln371Pro) n.1477A>C c.1208A>C (p.Gln403Pro) c.1298A>C (p.Gln433Pro) c.*1213A>C (n.*1213A>C) c.*829A>C (n.*829A>C) c.1232A>C (p.Gln411Pro) c.1169A>C (p.Gln390Pro) c.1238A>C (p.Gln413Pro) | |
1 | g.6472607G>A | CA338133053 | PLEKHG5 | c.1000C>T (p.Gln334Ter) c.1174C>T (p.Gln392Ter) c.1111C>T (p.Gln371Ter) n.1476C>T c.1207C>T (p.Gln403Ter) c.1297C>T (p.Gln433Ter) c.*1212C>T (n.*1212C>T) c.*828C>T (n.*828C>T) c.1231C>T (p.Gln411Ter) c.1168C>T (p.Gln390Ter) c.1237C>T (p.Gln413Ter) | |
1 | g.6472607G>C | CA338133051 | PLEKHG5 | c.1000C>G (p.Gln334Glu) c.1174C>G (p.Gln392Glu) c.1111C>G (p.Gln371Glu) n.1476C>G c.1207C>G (p.Gln403Glu) c.1297C>G (p.Gln433Glu) c.*1212C>G (n.*1212C>G) c.*828C>G (n.*828C>G) c.1231C>G (p.Gln411Glu) c.1168C>G (p.Gln390Glu) c.1237C>G (p.Gln413Glu) | |
1 | g.6472607G>T | CA338133049 | PLEKHG5 | c.1000C>A (p.Gln334Lys) c.1174C>A (p.Gln392Lys) c.1111C>A (p.Gln371Lys) n.1476C>A c.1207C>A (p.Gln403Lys) c.1297C>A (p.Gln433Lys) c.*1212C>A (n.*1212C>A) c.*828C>A (n.*828C>A) c.1231C>A (p.Gln411Lys) c.1168C>A (p.Gln390Lys) c.1237C>A (p.Gln413Lys) | |
1 | g.6472608C>A | CA415832728 | PLEKHG5 | c.999G>T (p.Arg333=) c.1173G>T (p.Arg391=) c.1110G>T (p.Arg370=) n.1475G>T c.1206G>T (p.Arg402=) c.1296G>T (p.Arg432=) c.*1211G>T (n.*1211G>T) c.*827G>T (n.*827G>T) c.1230G>T (p.Arg410=) c.1167G>T (p.Arg389=) c.1236G>T (p.Arg412=) | |
1 | g.6472608C>G | CA415832729 | PLEKHG5 | c.999G>C (p.Arg333=) c.1173G>C (p.Arg391=) c.1110G>C (p.Arg370=) n.1475G>C c.1206G>C (p.Arg402=) c.1296G>C (p.Arg432=) c.*1211G>C (n.*1211G>C) c.*827G>C (n.*827G>C) c.1230G>C (p.Arg410=) c.1167G>C (p.Arg389=) c.1236G>C (p.Arg412=) | |
1 | g.6472608C>T | CA415832731 | PLEKHG5 | c.999G>A (p.Arg333=) c.1173G>A (p.Arg391=) c.1110G>A (p.Arg370=) n.1475G>A c.1206G>A (p.Arg402=) c.1296G>A (p.Arg432=) c.*1211G>A (n.*1211G>A) c.*827G>A (n.*827G>A) c.1230G>A (p.Arg410=) c.1167G>A (p.Arg389=) c.1236G>A (p.Arg412=) | |
1 | g.6472609C>A | CA338133057 | PLEKHG5 | c.998G>T (p.Arg333Leu) c.1172G>T (p.Arg391Leu) c.1109G>T (p.Arg370Leu) n.1474G>T c.1205G>T (p.Arg402Leu) c.1295G>T (p.Arg432Leu) c.*1210G>T (n.*1210G>T) c.*826G>T (n.*826G>T) c.1229G>T (p.Arg410Leu) c.1166G>T (p.Arg389Leu) c.1235G>T (p.Arg412Leu) | gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.6472609C= | CA1151502007 | PLEKHG5 | c.998G= (p.Arg333=) c.1172G= (p.Arg391=) c.1109G= (p.Arg370=) n.1474G= c.1205G= (p.Arg402=) c.1295G= (p.Arg432=) c.*1210G= (n.*1210G=) c.*826G= (n.*826G=) c.1229G= (p.Arg410=) c.1166G= (p.Arg389=) c.1235G= (p.Arg412=) | |
1 | g.6472609C>G | CA561674 | PLEKHG5 | c.998G>C (p.Arg333Pro) c.1172G>C (p.Arg391Pro) c.1109G>C (p.Arg370Pro) n.1474G>C c.1205G>C (p.Arg402Pro) c.1295G>C (p.Arg432Pro) c.*1210G>C (n.*1210G>C) c.*826G>C (n.*826G>C) c.1229G>C (p.Arg410Pro) c.1166G>C (p.Arg389Pro) c.1235G>C (p.Arg412Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6472609C>T | CA561675 | PLEKHG5 | c.998G>A (p.Arg333Gln) c.1172G>A (p.Arg391Gln) c.1109G>A (p.Arg370Gln) n.1474G>A c.1205G>A (p.Arg402Gln) c.1295G>A (p.Arg432Gln) c.*1210G>A (n.*1210G>A) c.*826G>A (n.*826G>A) c.1229G>A (p.Arg410Gln) c.1166G>A (p.Arg389Gln) c.1235G>A (p.Arg412Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6472610G>A | CA561676 | PLEKHG5 | c.997C>T (p.Arg333Trp) c.1171C>T (p.Arg391Trp) c.1108C>T (p.Arg370Trp) n.1473C>T c.1204C>T (p.Arg402Trp) c.1294C>T (p.Arg432Trp) c.*1209C>T (n.*1209C>T) c.*825C>T (n.*825C>T) c.1228C>T (p.Arg410Trp) c.1165C>T (p.Arg389Trp) c.1234C>T (p.Arg412Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6472610G>C | CA338133072 | PLEKHG5 | c.997C>G (p.Arg333Gly) c.1171C>G (p.Arg391Gly) c.1108C>G (p.Arg370Gly) n.1473C>G c.1204C>G (p.Arg402Gly) c.1294C>G (p.Arg432Gly) c.*1209C>G (n.*1209C>G) c.*825C>G (n.*825C>G) c.1228C>G (p.Arg410Gly) c.1165C>G (p.Arg389Gly) c.1234C>G (p.Arg412Gly) | |
1 | g.6472610G= | CA1142226828 | PLEKHG5 | c.997C= (p.Arg333=) c.1171C= (p.Arg391=) c.1108C= (p.Arg370=) n.1473C= c.1204C= (p.Arg402=) c.1294C= (p.Arg432=) c.*1209C= (n.*1209C=) c.*825C= (n.*825C=) c.1228C= (p.Arg410=) c.1165C= (p.Arg389=) c.1234C= (p.Arg412=) | |
1 | g.6472610G>T | CA561677 | PLEKHG5 | c.997C>A (p.Arg333=) c.1171C>A (p.Arg391=) c.1108C>A (p.Arg370=) n.1473C>A c.1204C>A (p.Arg402=) c.1294C>A (p.Arg432=) c.*1209C>A (n.*1209C>A) c.*825C>A (n.*825C>A) c.1228C>A (p.Arg410=) c.1165C>A (p.Arg389=) c.1234C>A (p.Arg412=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6472611C>A | CA415832739 | PLEKHG5 | c.996G>T (p.Arg332=) c.1170G>T (p.Arg390=) c.1107G>T (p.Arg369=) n.1472G>T c.1203G>T (p.Arg401=) c.1293G>T (p.Arg431=) c.*1208G>T (n.*1208G>T) c.*824G>T (n.*824G>T) c.1227G>T (p.Arg409=) c.1164G>T (p.Arg388=) c.1233G>T (p.Arg411=) | |
1 | g.6472611C>G | CA415832740 | PLEKHG5 | c.996G>C (p.Arg332=) c.1170G>C (p.Arg390=) c.1107G>C (p.Arg369=) n.1472G>C c.1203G>C (p.Arg401=) c.1293G>C (p.Arg431=) c.*1208G>C (n.*1208G>C) c.*824G>C (n.*824G>C) c.1227G>C (p.Arg409=) c.1164G>C (p.Arg388=) c.1233G>C (p.Arg411=) | |
1 | g.6472611C>T | CA415832742 | PLEKHG5 | c.996G>A (p.Arg332=) c.1170G>A (p.Arg390=) c.1107G>A (p.Arg369=) n.1472G>A c.1203G>A (p.Arg401=) c.1293G>A (p.Arg431=) c.*1208G>A (n.*1208G>A) c.*824G>A (n.*824G>A) c.1227G>A (p.Arg409=) c.1164G>A (p.Arg388=) c.1233G>A (p.Arg411=) | gnomAD v4 |
1 | g.6472612C>A | CA338133079 | PLEKHG5 | c.995G>T (p.Arg332Leu) c.1169G>T (p.Arg390Leu) c.1106G>T (p.Arg369Leu) n.1471G>T c.1202G>T (p.Arg401Leu) c.1292G>T (p.Arg431Leu) c.*1207G>T (n.*1207G>T) c.*823G>T (n.*823G>T) c.1226G>T (p.Arg409Leu) c.1163G>T (p.Arg388Leu) c.1232G>T (p.Arg411Leu) | |
1 | g.6472612C= | CA1151502022 | PLEKHG5 | c.995G= (p.Arg332=) c.1169G= (p.Arg390=) c.1106G= (p.Arg369=) n.1471G= c.1202G= (p.Arg401=) c.1292G= (p.Arg431=) c.*1207G= (n.*1207G=) c.*823G= (n.*823G=) c.1226G= (p.Arg409=) c.1163G= (p.Arg388=) c.1232G= (p.Arg411=) | |
1 | g.6472612C>G | CA338133081 | PLEKHG5 | c.995G>C (p.Arg332Pro) c.1169G>C (p.Arg390Pro) c.1106G>C (p.Arg369Pro) n.1471G>C c.1202G>C (p.Arg401Pro) c.1292G>C (p.Arg431Pro) c.*1207G>C (n.*1207G>C) c.*823G>C (n.*823G>C) c.1226G>C (p.Arg409Pro) c.1163G>C (p.Arg388Pro) c.1232G>C (p.Arg411Pro) | |
1 | g.6472612C>T | CA561678 | PLEKHG5 | c.995G>A (p.Arg332Gln) c.1169G>A (p.Arg390Gln) c.1106G>A (p.Arg369Gln) n.1471G>A c.1202G>A (p.Arg401Gln) c.1292G>A (p.Arg431Gln) c.*1207G>A (n.*1207G>A) c.*823G>A (n.*823G>A) c.1226G>A (p.Arg409Gln) c.1163G>A (p.Arg388Gln) c.1232G>A (p.Arg411Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6472613G>A | CA561679 | PLEKHG5 | c.994C>T (p.Arg332Trp) c.1168C>T (p.Arg390Trp) c.1105C>T (p.Arg369Trp) n.1470C>T c.1201C>T (p.Arg401Trp) c.1291C>T (p.Arg431Trp) c.*1206C>T (n.*1206C>T) c.*822C>T (n.*822C>T) c.1225C>T (p.Arg409Trp) c.1162C>T (p.Arg388Trp) c.1231C>T (p.Arg411Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6472613G>C | CA338133086 | PLEKHG5 | c.994C>G (p.Arg332Gly) c.1168C>G (p.Arg390Gly) c.1105C>G (p.Arg369Gly) n.1470C>G c.1201C>G (p.Arg401Gly) c.1291C>G (p.Arg431Gly) c.*1206C>G (n.*1206C>G) c.*822C>G (n.*822C>G) c.1225C>G (p.Arg409Gly) c.1162C>G (p.Arg388Gly) c.1231C>G (p.Arg411Gly) | |
1 | g.6472613G= | CA1141727466 | PLEKHG5 | c.994C= (p.Arg332=) c.1168C= (p.Arg390=) c.1105C= (p.Arg369=) n.1470C= c.1201C= (p.Arg401=) c.1291C= (p.Arg431=) c.*1206C= (n.*1206C=) c.*822C= (n.*822C=) c.1225C= (p.Arg409=) c.1162C= (p.Arg388=) c.1231C= (p.Arg411=) | |
1 | g.6472613G>T | CA415832749 | PLEKHG5 | c.994C>A (p.Arg332=) c.1168C>A (p.Arg390=) c.1105C>A (p.Arg369=) n.1470C>A c.1201C>A (p.Arg401=) c.1291C>A (p.Arg431=) c.*1206C>A (n.*1206C>A) c.*822C>A (n.*822C>A) c.1225C>A (p.Arg409=) c.1162C>A (p.Arg388=) c.1231C>A (p.Arg411=) | gnomAD v4 |
1 | g.6472614G>A | CA415832751 | PLEKHG5 | c.993C>T (p.Thr331=) c.1167C>T (p.Thr389=) c.1104C>T (p.Thr368=) n.1469C>T c.1200C>T (p.Thr400=) c.1290C>T (p.Thr430=) c.*1205C>T (n.*1205C>T) c.*821C>T (n.*821C>T) c.1224C>T (p.Thr408=) c.1161C>T (p.Thr387=) c.1230C>T (p.Thr410=) | ClinVar dbSNP gnomAD v4 |
1 | g.6472614G>C | CA415832753 | PLEKHG5 | c.993C>G (p.Thr331=) c.1167C>G (p.Thr389=) c.1104C>G (p.Thr368=) n.1469C>G c.1200C>G (p.Thr400=) c.1290C>G (p.Thr430=) c.*1205C>G (n.*1205C>G) c.*821C>G (n.*821C>G) c.1224C>G (p.Thr408=) c.1161C>G (p.Thr387=) c.1230C>G (p.Thr410=) | |
1 | g.6472614G= | CA1151502037 | PLEKHG5 | c.993C= (p.Thr331=) c.1167C= (p.Thr389=) c.1104C= (p.Thr368=) n.1469C= c.1200C= (p.Thr400=) c.1290C= (p.Thr430=) c.*1205C= (n.*1205C=) c.*821C= (n.*821C=) c.1224C= (p.Thr408=) c.1161C= (p.Thr387=) c.1230C= (p.Thr410=) | |
1 | g.6472614G>T | CA415832755 | PLEKHG5 | c.993C>A (p.Thr331=) c.1167C>A (p.Thr389=) c.1104C>A (p.Thr368=) n.1469C>A c.1200C>A (p.Thr400=) c.1290C>A (p.Thr430=) c.*1205C>A (n.*1205C>A) c.*821C>A (n.*821C>A) c.1224C>A (p.Thr408=) c.1161C>A (p.Thr387=) c.1230C>A (p.Thr410=) | |
1 | g.6472615G>A | CA338133099 | PLEKHG5 | c.992C>T (p.Thr331Ile) c.1166C>T (p.Thr389Ile) c.1103C>T (p.Thr368Ile) n.1468C>T c.1199C>T (p.Thr400Ile) c.1289C>T (p.Thr430Ile) c.*1204C>T (n.*1204C>T) c.*820C>T (n.*820C>T) c.1223C>T (p.Thr408Ile) c.1160C>T (p.Thr387Ile) c.1229C>T (p.Thr410Ile) | |
1 | g.6472615G>C | CA338133096 | PLEKHG5 | c.992C>G (p.Thr331Ser) c.1166C>G (p.Thr389Ser) c.1103C>G (p.Thr368Ser) n.1468C>G c.1199C>G (p.Thr400Ser) c.1289C>G (p.Thr430Ser) c.*1204C>G (n.*1204C>G) c.*820C>G (n.*820C>G) c.1223C>G (p.Thr408Ser) c.1160C>G (p.Thr387Ser) c.1229C>G (p.Thr410Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6472615G= | CA1151502041 | PLEKHG5 | c.992C= (p.Thr331=) c.1166C= (p.Thr389=) c.1103C= (p.Thr368=) n.1468C= c.1199C= (p.Thr400=) c.1289C= (p.Thr430=) c.*1204C= (n.*1204C=) c.*820C= (n.*820C=) c.1223C= (p.Thr408=) c.1160C= (p.Thr387=) c.1229C= (p.Thr410=) | |
1 | g.6472615G>T | CA338133093 | PLEKHG5 | c.992C>A (p.Thr331Asn) c.1166C>A (p.Thr389Asn) c.1103C>A (p.Thr368Asn) n.1468C>A c.1199C>A (p.Thr400Asn) c.1289C>A (p.Thr430Asn) c.*1204C>A (n.*1204C>A) c.*820C>A (n.*820C>A) c.1223C>A (p.Thr408Asn) c.1160C>A (p.Thr387Asn) c.1229C>A (p.Thr410Asn) | |
1 | g.6472616T>A | CA338133103 | PLEKHG5 | c.991A>T (p.Thr331Ser) c.1165A>T (p.Thr389Ser) c.1102A>T (p.Thr368Ser) n.1467A>T c.1198A>T (p.Thr400Ser) c.1288A>T (p.Thr430Ser) c.*1203A>T (n.*1203A>T) c.*819A>T (n.*819A>T) c.1222A>T (p.Thr408Ser) c.1159A>T (p.Thr387Ser) c.1228A>T (p.Thr410Ser) | |
1 | g.6472616T>C | CA338133105 | PLEKHG5 | c.991A>G (p.Thr331Ala) c.1165A>G (p.Thr389Ala) c.1102A>G (p.Thr368Ala) n.1467A>G c.1198A>G (p.Thr400Ala) c.1288A>G (p.Thr430Ala) c.*1203A>G (n.*1203A>G) c.*819A>G (n.*819A>G) c.1222A>G (p.Thr408Ala) c.1159A>G (p.Thr387Ala) c.1228A>G (p.Thr410Ala) | |
1 | g.6472616T>G | CA338133109 | PLEKHG5 | c.991A>C (p.Thr331Pro) c.1165A>C (p.Thr389Pro) c.1102A>C (p.Thr368Pro) n.1467A>C c.1198A>C (p.Thr400Pro) c.1288A>C (p.Thr430Pro) c.*1203A>C (n.*1203A>C) c.*819A>C (n.*819A>C) c.1222A>C (p.Thr408Pro) c.1159A>C (p.Thr387Pro) c.1228A>C (p.Thr410Pro) | dbSNP |
1 | g.6472616T= | CA1151502044 | PLEKHG5 | c.991A= (p.Thr331=) c.1165A= (p.Thr389=) c.1102A= (p.Thr368=) n.1467A= c.1198A= (p.Thr400=) c.1288A= (p.Thr430=) c.*1203A= (n.*1203A=) c.*819A= (n.*819A=) c.1222A= (p.Thr408=) c.1159A= (p.Thr387=) c.1228A= (p.Thr410=) | |
1 | g.6472617C>A | CA415832761 | PLEKHG5 | c.990G>T (p.Leu330=) c.1164G>T (p.Leu388=) c.1101G>T (p.Leu367=) n.1466G>T c.1197G>T (p.Leu399=) c.1287G>T (p.Leu429=) c.*1202G>T (n.*1202G>T) c.*818G>T (n.*818G>T) c.1221G>T (p.Leu407=) c.1158G>T (p.Leu386=) c.1227G>T (p.Leu409=) | ClinVar dbSNP gnomAD v4 |
1 | g.6472617C>G | CA415832763 | PLEKHG5 | c.990G>C (p.Leu330=) c.1164G>C (p.Leu388=) c.1101G>C (p.Leu367=) n.1466G>C c.1197G>C (p.Leu399=) c.1287G>C (p.Leu429=) c.*1202G>C (n.*1202G>C) c.*818G>C (n.*818G>C) c.1221G>C (p.Leu407=) c.1158G>C (p.Leu386=) c.1227G>C (p.Leu409=) | |
1 | g.6472617C>T | CA415832765 | PLEKHG5 | c.990G>A (p.Leu330=) c.1164G>A (p.Leu388=) c.1101G>A (p.Leu367=) n.1466G>A c.1197G>A (p.Leu399=) c.1287G>A (p.Leu429=) c.*1202G>A (n.*1202G>A) c.*818G>A (n.*818G>A) c.1221G>A (p.Leu407=) c.1158G>A (p.Leu386=) c.1227G>A (p.Leu409=) | |
1 | g.6472618A>C | CA338133113 | PLEKHG5 | c.989T>G (p.Leu330Arg) c.1163T>G (p.Leu388Arg) c.1100T>G (p.Leu367Arg) n.1465T>G c.1196T>G (p.Leu399Arg) c.1286T>G (p.Leu429Arg) c.*1201T>G (n.*1201T>G) c.*817T>G (n.*817T>G) c.1220T>G (p.Leu407Arg) c.1157T>G (p.Leu386Arg) c.1226T>G (p.Leu409Arg) | |
1 | g.6472618A>G | CA338133121 | PLEKHG5 | c.989T>C (p.Leu330Pro) c.1163T>C (p.Leu388Pro) c.1100T>C (p.Leu367Pro) n.1465T>C c.1196T>C (p.Leu399Pro) c.1286T>C (p.Leu429Pro) c.*1201T>C (n.*1201T>C) c.*817T>C (n.*817T>C) c.1220T>C (p.Leu407Pro) c.1157T>C (p.Leu386Pro) c.1226T>C (p.Leu409Pro) | |
1 | g.6472618A>T | CA338133123 | PLEKHG5 | c.989T>A (p.Leu330Gln) c.1163T>A (p.Leu388Gln) c.1100T>A (p.Leu367Gln) n.1465T>A c.1196T>A (p.Leu399Gln) c.1286T>A (p.Leu429Gln) c.*1201T>A (n.*1201T>A) c.*817T>A (n.*817T>A) c.1220T>A (p.Leu407Gln) c.1157T>A (p.Leu386Gln) c.1226T>A (p.Leu409Gln) | |
1 | g.6472619G>A | CA415832769 | PLEKHG5 | c.988C>T (p.Leu330=) c.1162C>T (p.Leu388=) c.1099C>T (p.Leu367=) n.1464C>T c.1195C>T (p.Leu399=) c.1285C>T (p.Leu429=) c.*1200C>T (n.*1200C>T) c.*816C>T (n.*816C>T) c.1219C>T (p.Leu407=) c.1156C>T (p.Leu386=) c.1225C>T (p.Leu409=) | gnomAD v4 |
1 | g.6472619G>C | CA338133127 | PLEKHG5 | c.988C>G (p.Leu330Val) c.1162C>G (p.Leu388Val) c.1099C>G (p.Leu367Val) n.1464C>G c.1195C>G (p.Leu399Val) c.1285C>G (p.Leu429Val) c.*1200C>G (n.*1200C>G) c.*816C>G (n.*816C>G) c.1219C>G (p.Leu407Val) c.1156C>G (p.Leu386Val) c.1225C>G (p.Leu409Val) | |
1 | g.6472619G>T | CA338133130 | PLEKHG5 | c.988C>A (p.Leu330Met) c.1162C>A (p.Leu388Met) c.1099C>A (p.Leu367Met) n.1464C>A c.1195C>A (p.Leu399Met) c.1285C>A (p.Leu429Met) c.*1200C>A (n.*1200C>A) c.*816C>A (n.*816C>A) c.1219C>A (p.Leu407Met) c.1156C>A (p.Leu386Met) c.1225C>A (p.Leu409Met) | |
1 | g.6472620C>A | CA338133131 | PLEKHG5 | c.987G>T (p.Lys329Asn) c.1161G>T (p.Lys387Asn) c.1098G>T (p.Lys366Asn) n.1463G>T c.1194G>T (p.Lys398Asn) c.1284G>T (p.Lys428Asn) c.*1199G>T (n.*1199G>T) c.*815G>T (n.*815G>T) c.1218G>T (p.Lys406Asn) c.1155G>T (p.Lys385Asn) c.1224G>T (p.Lys408Asn) | dbSNP |
1 | g.6472620C= | CA1151502046 | PLEKHG5 | c.987G= (p.Lys329=) c.1161G= (p.Lys387=) c.1098G= (p.Lys366=) n.1463G= c.1194G= (p.Lys398=) c.1284G= (p.Lys428=) c.*1199G= (n.*1199G=) c.*815G= (n.*815G=) c.1218G= (p.Lys406=) c.1155G= (p.Lys385=) c.1224G= (p.Lys408=) | |
1 | g.6472620C>G | CA338133134 | PLEKHG5 | c.987G>C (p.Lys329Asn) c.1161G>C (p.Lys387Asn) c.1098G>C (p.Lys366Asn) n.1463G>C c.1194G>C (p.Lys398Asn) c.1284G>C (p.Lys428Asn) c.*1199G>C (n.*1199G>C) c.*815G>C (n.*815G>C) c.1218G>C (p.Lys406Asn) c.1155G>C (p.Lys385Asn) c.1224G>C (p.Lys408Asn) | |
1 | g.6472620C>T | CA415832773 | PLEKHG5 | c.987G>A (p.Lys329=) c.1161G>A (p.Lys387=) c.1098G>A (p.Lys366=) n.1463G>A c.1194G>A (p.Lys398=) c.1284G>A (p.Lys428=) c.*1199G>A (n.*1199G>A) c.*815G>A (n.*815G>A) c.1218G>A (p.Lys406=) c.1155G>A (p.Lys385=) c.1224G>A (p.Lys408=) | gnomAD v4 |
1 | g.6472621T>A | CA338133137 | PLEKHG5 | c.986A>T (p.Lys329Met) c.1160A>T (p.Lys387Met) c.1097A>T (p.Lys366Met) n.1462A>T c.1193A>T (p.Lys398Met) c.1283A>T (p.Lys428Met) c.*1198A>T (n.*1198A>T) c.*814A>T (n.*814A>T) c.1217A>T (p.Lys406Met) c.1154A>T (p.Lys385Met) c.1223A>T (p.Lys408Met) | |
1 | g.6472621T>C | CA338133141 | PLEKHG5 | c.986A>G (p.Lys329Arg) c.1160A>G (p.Lys387Arg) c.1097A>G (p.Lys366Arg) n.1462A>G c.1193A>G (p.Lys398Arg) c.1283A>G (p.Lys428Arg) c.*1198A>G (n.*1198A>G) c.*814A>G (n.*814A>G) c.1217A>G (p.Lys406Arg) c.1154A>G (p.Lys385Arg) c.1223A>G (p.Lys408Arg) | gnomAD v4 |
1 | g.6472621T>G | CA338133143 | PLEKHG5 | c.986A>C (p.Lys329Thr) c.1160A>C (p.Lys387Thr) c.1097A>C (p.Lys366Thr) n.1462A>C c.1193A>C (p.Lys398Thr) c.1283A>C (p.Lys428Thr) c.*1198A>C (n.*1198A>C) c.*814A>C (n.*814A>C) c.1217A>C (p.Lys406Thr) c.1154A>C (p.Lys385Thr) c.1223A>C (p.Lys408Thr) | |
1 | g.6472622T>A | CA338133147 | PLEKHG5 | c.985A>T (p.Lys329Ter) c.1159A>T (p.Lys387Ter) c.1096A>T (p.Lys366Ter) n.1461A>T c.1192A>T (p.Lys398Ter) c.1282A>T (p.Lys428Ter) c.*1197A>T (n.*1197A>T) c.*813A>T (n.*813A>T) c.1216A>T (p.Lys406Ter) c.1153A>T (p.Lys385Ter) c.1222A>T (p.Lys408Ter) | |
1 | g.6472622T>C | CA338133156 | PLEKHG5 | c.985A>G (p.Lys329Glu) c.1159A>G (p.Lys387Glu) c.1096A>G (p.Lys366Glu) n.1461A>G c.1192A>G (p.Lys398Glu) c.1282A>G (p.Lys428Glu) c.*1197A>G (n.*1197A>G) c.*813A>G (n.*813A>G) c.1216A>G (p.Lys406Glu) c.1153A>G (p.Lys385Glu) c.1222A>G (p.Lys408Glu) | |
1 | g.6472622T>G | CA338133152 | PLEKHG5 | c.985A>C (p.Lys329Gln) c.1159A>C (p.Lys387Gln) c.1096A>C (p.Lys366Gln) n.1461A>C c.1192A>C (p.Lys398Gln) c.1282A>C (p.Lys428Gln) c.*1197A>C (n.*1197A>C) c.*813A>C (n.*813A>C) c.1216A>C (p.Lys406Gln) c.1153A>C (p.Lys385Gln) c.1222A>C (p.Lys408Gln) | |
1 | g.6472623C>A | CA338133161 | PLEKHG5 | c.985-1G>T (n.985-1G>T) c.1159-1G>T (n.1159-1G>T) c.1096-1G>T (n.1096-1G>T) n.1461-1G>T c.1192-1G>T (n.1192-1G>T) c.1282-1G>T (n.1282-1G>T) c.*1197-1G>T (n.*1197-1G>T) c.*813-1G>T (n.*813-1G>T) c.1216-1G>T (n.1216-1G>T) c.1153-1G>T (n.1153-1G>T) c.1222-1G>T (n.1222-1G>T) | |
1 | g.6472623C>G | CA338133166 | PLEKHG5 | c.985-1G>C (n.985-1G>C) c.1159-1G>C (n.1159-1G>C) c.1096-1G>C (n.1096-1G>C) n.1461-1G>C c.1192-1G>C (n.1192-1G>C) c.1282-1G>C (n.1282-1G>C) c.*1197-1G>C (n.*1197-1G>C) c.*813-1G>C (n.*813-1G>C) c.1216-1G>C (n.1216-1G>C) c.1153-1G>C (n.1153-1G>C) c.1222-1G>C (n.1222-1G>C) | |
1 | g.6472623C>T | CA338133170 | PLEKHG5 | c.985-1G>A (n.985-1G>A) c.1159-1G>A (n.1159-1G>A) c.1096-1G>A (n.1096-1G>A) n.1461-1G>A c.1192-1G>A (n.1192-1G>A) c.1282-1G>A (n.1282-1G>A) c.*1197-1G>A (n.*1197-1G>A) c.*813-1G>A (n.*813-1G>A) c.1216-1G>A (n.1216-1G>A) c.1153-1G>A (n.1153-1G>A) c.1222-1G>A (n.1222-1G>A) |