|
NM_001042664.1(PLEKHG5):c.*1087G>T
|
|
|
NM_001042664.1(PLEKHG5):c.*1186A>G
|
|
|
NM_001042664.1(PLEKHG5):c.*1332C>A
|
|
|
NM_001042664.1(PLEKHG5):c.*1333C>T
|
|
|
NM_001042664.1(PLEKHG5):c.*1374C>T
|
|
|
NM_001042664.1(PLEKHG5):c.*573G>A
|
|
|
NM_001042664.1(PLEKHG5):c.*816C>T
|
|
|
NM_001265594.2(PLEKHG5):c.2737+100C>T
|
rs751158651
|
|
NM_001265594.2(PLEKHG5):c.2737+22_2737+24del
|
rs536097668
|
|
NM_001265594.2(PLEKHG5):c.2737+65C>T
|
rs886042289
|
|
NM_001265594.2(PLEKHG5):c.2738-52G>A
|
rs749015188
|
|
NM_001265594.2(PLEKHG5):c.2738-5C>T
|
rs150133974
|
|
NM_001265594.2(PLEKHG5):c.2738-6G>C
|
rs368905339
|
|
NM_001265594.2(PLEKHG5):c.2738-74A>G
|
rs771066341
|
|
NM_020631.5(PLEKHG5):c.*1006C>T
|
rs886046489
|
|
NM_020631.5(PLEKHG5):c.*1016A>G
|
rs886046488
|
|
NM_020631.5(PLEKHG5):c.*1289C>G
|
rs886046487
|
|
NM_020631.5(PLEKHG5):c.*1347G>T
|
rs886046486
|
|
NM_020631.5(PLEKHG5):c.*1354T>C
|
rs886046485
|
|
NM_020631.5(PLEKHG5):c.*192G>A
|
rs886046495
|
|
NM_020631.5(PLEKHG5):c.*363C>G
|
rs186882493
|
|
NM_020631.5(PLEKHG5):c.*555T>A
|
rs886046494
|
|
NM_020631.5(PLEKHG5):c.*68C>T
|
rs886046496
|
|
NM_020631.5(PLEKHG5):c.*750del
|
rs886046493
|
|
NM_020631.5(PLEKHG5):c.*765del
|
rs372197062
|
|
NM_020631.5(PLEKHG5):c.*775T>G
|
rs886046492
|
|
NM_020631.5(PLEKHG5):c.*801G>A
|
rs886046491
|
|
NM_020631.5(PLEKHG5):c.*905G>A
|
rs886046490
|
|
NM_020631.5(PLEKHG5):c.*981dup
|
rs553519753
|
|
NM_020631.5(PLEKHG5):c.1038C>G (p.His346Gln)
|
rs1553174547
|
|
NM_020631.5(PLEKHG5):c.1066C>T (p.Arg356Trp)
|
rs764053619
|
|
NM_020631.5(PLEKHG5):c.1080+8G>C
|
rs1553174495
|
|
NM_020631.5(PLEKHG5):c.1081-3C>T
|
rs772519809
|
|
NM_020631.5(PLEKHG5):c.1082T>G (p.Leu361Arg)
|
rs762368406
|
|
NM_020631.5(PLEKHG5):c.1112A>C (p.Glu371Ala)
|
rs1569861657
|
|
NM_020631.5(PLEKHG5):c.1139C>T (p.Ala380Val)
|
rs374286001
|
|
NM_020631.5(PLEKHG5):c.1170C>G (p.Ile390Met)
|
rs771928245
|
|
NM_020631.5(PLEKHG5):c.1211C>G (p.Pro404Arg)
|
rs1173364500
|
|
NM_020631.5(PLEKHG5):c.1236G>A (p.Thr412=)
|
rs376823275
|
|
NM_020631.5(PLEKHG5):c.124G>C (p.Glu42Gln)
|
rs373611638
|
|
NM_020631.5(PLEKHG5):c.1264C>T (p.Leu422Phe)
|
rs779799130
|
|
NM_020631.5(PLEKHG5):c.1270G>A (p.Gly424Ser)
|
rs1366436495
|
|
NM_020631.5(PLEKHG5):c.1280T>C (p.Met427Thr)
|
rs754678569
|
|
NM_020631.5(PLEKHG5):c.1286G>C (p.Gly429Ala)
|
rs1304686030
|
|
NM_020631.5(PLEKHG5):c.1292T>G (p.Leu431Arg)
|
rs746661057
|
|
NM_020631.5(PLEKHG5):c.1295T>C (p.Phe432Ser)
|
rs1384133118
|
|
NM_020631.5(PLEKHG5):c.1304A>G (p.Tyr435Cys)
|
rs1569857188
|
|
NM_020631.5(PLEKHG5):c.1346T>C (p.Met449Thr)
|
rs1553174146
|
|
NM_020631.5(PLEKHG5):c.1360C>T (p.Arg454Cys)
|
rs200086651
|
|
NM_020631.5(PLEKHG5):c.1367A>G (p.Asn456Ser)
|
rs759384083
|
|
NM_020631.5(PLEKHG5):c.1371C>T (p.Asp457=)
|
rs776561735
|
|
NM_020631.5(PLEKHG5):c.1379G>A (p.Arg460Gln)
|
rs1309731055
|
|
NM_020631.5(PLEKHG5):c.1392G>A (p.Thr464=)
|
rs1412619450
|
|
NM_020631.5(PLEKHG5):c.1396G>C (p.Ala466Pro)
|
rs757292650
|
|
NM_020631.5(PLEKHG5):c.1414T>G (p.Cys472Gly)
|
rs1382976948
|
|
NM_020631.5(PLEKHG5):c.1469A>G (p.Lys490Arg)
|
rs534760199
|
|
NM_020631.5(PLEKHG5):c.148G>C (p.Gly50Arg)
|
rs779791612
|
|
NM_020631.5(PLEKHG5):c.1495C>G (p.Leu499Val)
|
rs1064796900
|
|
NM_020631.5(PLEKHG5):c.1507G>C (p.Glu503Gln)
|
rs868161574
|
|
NM_020631.5(PLEKHG5):c.1510G>A (p.Glu504Lys)
|
rs552364487
|
|
NM_020631.5(PLEKHG5):c.1513C>T (p.Pro505Ser)
|
rs530846615
|
|
NM_020631.5(PLEKHG5):c.1514C>T (p.Pro505Leu)
|
rs770934745
|
|
NM_020631.5(PLEKHG5):c.1519G>A (p.Ala507Thr)
|
rs868002197
|
|
NM_020631.5(PLEKHG5):c.1535T>A (p.Val512Asp)
|
rs548243654
|
|
NM_020631.5(PLEKHG5):c.1552G>A (p.Val518Met)
|
rs377602965
|
|
NM_020631.5(PLEKHG5):c.1572C>T (p.His524=)
|
rs373184968
|
|
NM_020631.5(PLEKHG5):c.1576A>G (p.Asn526Asp)
|
rs774755047
|
|
NM_020631.5(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del)
|
rs1557739505
|
|
NM_020631.5(PLEKHG5):c.1610G>A (p.Arg537Gln)
|
rs1322468026
|
|
NM_020631.5(PLEKHG5):c.1616C>T (p.Ala539Val)
|
rs370515061
|
|
NM_020631.5(PLEKHG5):c.161G>A (p.Ser54Asn)
|
rs376703933
|
|
NM_020631.5(PLEKHG5):c.1681-27_1681-3dup
|
rs748372368
|
|
NM_020631.5(PLEKHG5):c.1681-8G>C
|
rs139041955
|
|
NM_020631.5(PLEKHG5):c.1681-9C>G
|
rs373133607
|
|
NM_020631.5(PLEKHG5):c.168C>T (p.Gly56=)
|
rs1366828227
|
|
NM_020631.5(PLEKHG5):c.1697T>A (p.Leu566Gln)
|
rs376513313
|
|
NM_020631.5(PLEKHG5):c.1705G>A (p.Asp569Asn)
|
rs200641225
|
|
NM_020631.5(PLEKHG5):c.1724C>T (p.Pro575Leu)
|
rs77134982
|
|
NM_020631.5(PLEKHG5):c.1729G>A (p.Ala577Thr)
|
rs143545780
|
|
NM_020631.5(PLEKHG5):c.1736C>T (p.Pro579Leu)
|
rs757727499
|
|
NM_020631.5(PLEKHG5):c.1738G>A (p.Glu580Lys)
|
rs760122001
|
|
NM_020631.5(PLEKHG5):c.1748G>A (p.Arg583Gln)
|
rs1553173791
|
|
NM_020631.5(PLEKHG5):c.1783G>C (p.Glu595Gln)
|
rs140597591
|
|
NM_020631.5(PLEKHG5):c.1804G>A (p.Asp602Asn)
|
rs1557738049
|
|
NM_020631.5(PLEKHG5):c.1826C>A (p.Thr609Lys)
|
rs553151077
|
|
NM_020631.5(PLEKHG5):c.1840G>C (p.Val614Leu)
|
rs752514480
|
|
NM_020631.5(PLEKHG5):c.1883G>A (p.Arg628Lys)
|
rs144245744
|
|
NM_020631.5(PLEKHG5):c.1932T>C (p.Pro644=)
|
rs150807400
|
|
NM_020631.5(PLEKHG5):c.1940T>C (p.Phe647Ser)
|
rs63750315
|
|
NM_020631.5(PLEKHG5):c.1987A>G (p.Thr663Ala)
|
rs1212737816
|
|
NM_020631.5(PLEKHG5):c.2017C>T (p.Arg673Cys)
|
rs747057331
|
|
NM_020631.5(PLEKHG5):c.2042A>G (p.Asn681Ser)
|
rs936501984
|
|
NM_020631.5(PLEKHG5):c.2131C>G (p.Gln711Glu)
|
rs761272621
|
|
NM_020631.5(PLEKHG5):c.2132A>G (p.Gln711Arg)
|
rs886046500
|
|
NM_020631.5(PLEKHG5):c.2138A>C (p.Glu713Ala)
|
rs1241363420
|
|
NM_020631.5(PLEKHG5):c.214C>A (p.Pro72Thr)
|
rs886044171
|
|
NM_020631.5(PLEKHG5):c.2156_2157insAGA (p.Glu723dup)
|
rs1553173388
|
|
NM_020631.5(PLEKHG5):c.2160G>A (p.Glu720=)
|
rs867638588
|
|
NM_020631.5(PLEKHG5):c.2160_2163delinsA (p.Glu723del)
|
rs386628081
|
|
NM_020631.5(PLEKHG5):c.2201C>T (p.Ser734Phe)
|
rs554772993
|
|
NM_020631.5(PLEKHG5):c.2212A>G (p.Met738Val)
|
rs778686532
|
|
NM_020631.5(PLEKHG5):c.2213T>A (p.Met738Lys)
|
rs1305950436
|
|
NM_020631.5(PLEKHG5):c.2215C>T (p.Arg739Trp)
|
rs189468475
|
|
NM_020631.5(PLEKHG5):c.2227G>A (p.Gly743Ser)
|
rs145073653
|
|
NM_020631.5(PLEKHG5):c.2233C>A (p.Pro745Thr)
|
rs756501907
|
|
NM_020631.5(PLEKHG5):c.2244G>C (p.Gln748His)
|
rs1569839599
|
|
NM_020631.5(PLEKHG5):c.2249+4C>T
|
rs751575330
|
|
NM_020631.5(PLEKHG5):c.2268G>A (p.Thr756=)
|
rs757831916
|
|
NM_020631.5(PLEKHG5):c.2279C>T (p.Ala760Val)
|
rs1569836518
|
|
NM_020631.5(PLEKHG5):c.2281A>G (p.Met761Val)
|
rs201647966
|
|
NM_020631.5(PLEKHG5):c.2293G>C (p.Glu765Gln)
|
rs532817130
|
|
NM_020631.5(PLEKHG5):c.22C>T (p.Arg8Cys)
|
rs754002297
|
|
NM_020631.5(PLEKHG5):c.2306C>T (p.Thr769Met)
|
rs1000775772
|
|
NM_020631.5(PLEKHG5):c.2377dup (p.Ala793fs)
|
rs753593088
|
|
NM_020631.5(PLEKHG5):c.2390C>T (p.Thr797Met)
|
rs111724922
|
|
NM_020631.5(PLEKHG5):c.2410C>T (p.Pro804Ser)
|
rs886046499
|
|
NM_020631.5(PLEKHG5):c.2411C>T (p.Pro804Leu)
|
rs1400722803
|
|
NM_020631.5(PLEKHG5):c.2420C>T (p.Pro807Leu)
|
rs371547045
|
|
NM_020631.5(PLEKHG5):c.2421G>A (p.Pro807=)
|
rs767407997
|
|
NM_020631.5(PLEKHG5):c.2427C>T (p.Asp809=)
|
rs369876443
|
|
NM_020631.5(PLEKHG5):c.2428G>T (p.Gly810Cys)
|
rs76625876
|
|
NM_020631.5(PLEKHG5):c.2431C>T (p.Arg811Cys)
|
rs538561788
|
|
NM_020631.5(PLEKHG5):c.2432G>A (p.Arg811His)
|
rs891527256
|
|
NM_020631.5(PLEKHG5):c.2433C>T (p.Arg811=)
|
rs759272412
|
|
NM_020631.5(PLEKHG5):c.2435C>T (p.Ser812Phe)
|
rs145009237
|
|
NM_020631.5(PLEKHG5):c.2438G>A (p.Cys813Tyr)
|
rs771230935
|
|
NM_020631.5(PLEKHG5):c.2457C>T (p.Tyr819=)
|
rs184541137
|
|
NM_020631.5(PLEKHG5):c.2458G>A (p.Gly820Ser)
|
rs202191898
|
|
NM_020631.5(PLEKHG5):c.2485G>T (p.Asp829Tyr)
|
rs200162521
|
|
NM_020631.5(PLEKHG5):c.2489T>C (p.Phe830Ser)
|
rs764007395
|
|
NM_020631.5(PLEKHG5):c.2506A>G (p.Met836Val)
|
rs752621606
|
|
NM_020631.5(PLEKHG5):c.2524C>T (p.Arg842Trp)
|
rs770870023
|
|
NM_020631.5(PLEKHG5):c.2525G>A (p.Arg842Gln)
|
rs149682441
|
|
NM_020631.5(PLEKHG5):c.2543G>A (p.Arg848Gln)
|
rs761000380
|
|
NM_020631.5(PLEKHG5):c.2564C>T (p.Ser855Leu)
|
rs768995193
|
|
NM_020631.5(PLEKHG5):c.2575C>T (p.Arg859Cys)
|
rs150666859
|
|
NM_020631.5(PLEKHG5):c.2578C>T (p.Arg860Cys)
|
rs557256913
|
|
NM_020631.5(PLEKHG5):c.2579G>A (p.Arg860His)
|
rs765235144
|
|
NM_020631.5(PLEKHG5):c.2582G>A (p.Arg861His)
|
rs565558161
|
|
NM_020631.5(PLEKHG5):c.2609C>T (p.Pro870Leu)
|
rs772693344
|
|
NM_020631.5(PLEKHG5):c.2610G>A (p.Pro870=)
|
rs373880458
|
|
NM_020631.5(PLEKHG5):c.2612C>T (p.Pro871Leu)
|
rs886046498
|
|
NM_020631.5(PLEKHG5):c.2634C>T (p.Ser878=)
|
rs367560509
|
|
NM_020631.5(PLEKHG5):c.2664G>T (p.Gly888=)
|
rs1569832075
|
|
NM_020631.5(PLEKHG5):c.2677G>A (p.Gly893Arg)
|
rs200407689
|
|
NM_020631.5(PLEKHG5):c.2683C>G (p.Pro895Ala)
|
rs753662166
|
|
NM_020631.5(PLEKHG5):c.2691C>T (p.Ala897=)
|
rs755539639
|
|
NM_020631.5(PLEKHG5):c.2698C>T (p.Arg900Cys)
|
rs750132016
|
|
NM_020631.5(PLEKHG5):c.2713C>T (p.Leu905Phe)
|
rs774696513
|
|
NM_020631.5(PLEKHG5):c.2720T>C (p.Leu907Pro)
|
rs764378556
|
|
NM_020631.5(PLEKHG5):c.2728C>T (p.Pro910Ser)
|
rs1334075760
|
|
NM_020631.5(PLEKHG5):c.2746A>C (p.Thr916Pro)
|
rs187886272
|
|
NM_020631.5(PLEKHG5):c.274G>A (p.Val92Ile)
|
rs371516662
|
|
NM_020631.5(PLEKHG5):c.2751G>A (p.Gln917=)
|
rs370666430
|
|
NM_020631.5(PLEKHG5):c.2789G>A (p.Arg930Gln)
|
rs376237905
|
|
NM_020631.5(PLEKHG5):c.2789G>T (p.Arg930Leu)
|
rs376237905
|
|
NM_020631.5(PLEKHG5):c.2826C>T (p.Val942=)
|
rs749891873
|
|
NM_020631.5(PLEKHG5):c.2827G>A (p.Gly943Ser)
|
rs114619322
|
|
NM_020631.5(PLEKHG5):c.2848G>T (p.Ala950Ser)
|
rs879254222
|
|
NM_020631.5(PLEKHG5):c.2867G>A (p.Arg956Lys)
|
rs773530688
|
|
NM_020631.5(PLEKHG5):c.2900G>T (p.Arg967Met)
|
rs376606416
|
|
NM_020631.5(PLEKHG5):c.2952C>T (p.Thr984=)
|
rs886046497
|
|
NM_020631.5(PLEKHG5):c.2975G>A (p.Arg992Lys)
|
rs750720112
|
|
NM_020631.5(PLEKHG5):c.2999C>T (p.Thr1000Met)
|
rs781065380
|
|
NM_020631.5(PLEKHG5):c.3011+6T>C
|
rs1569827097
|
|
NM_020631.5(PLEKHG5):c.302+6G>A
|
rs1553175409
|
|
NM_020631.5(PLEKHG5):c.307G>A (p.Val103Met)
|
rs141032388
|
|
NM_020631.5(PLEKHG5):c.307G>T (p.Val103Leu)
|
rs141032388
|
|
NM_020631.5(PLEKHG5):c.33T>C (p.Leu11=)
|
rs144859183
|
|
NM_020631.5(PLEKHG5):c.34C>A (p.Pro12Thr)
|
rs140687324
|
|
NM_020631.5(PLEKHG5):c.34C>T (p.Pro12Ser)
|
rs140687324
|
|
NM_020631.5(PLEKHG5):c.38C>T (p.Pro13Leu)
|
rs776271244
|
|
NM_020631.5(PLEKHG5):c.395C>T (p.Thr132Ile)
|
rs761640668
|
|
NM_020631.5(PLEKHG5):c.412T>C (p.Phe138Leu)
|
rs1302453044
|
|
NM_020631.5(PLEKHG5):c.415G>C (p.Gly139Arg)
|
rs769529781
|
|
NM_020631.5(PLEKHG5):c.43+14_43+20del
|
rs527883968
|
|
NM_020631.5(PLEKHG5):c.430C>T (p.Arg144Cys)
|
rs778272514
|
|
NM_020631.5(PLEKHG5):c.431G>A (p.Arg144His)
|
rs150152888
|
|
NM_020631.5(PLEKHG5):c.439+12C>G
|
rs778853521
|
|
NM_020631.5(PLEKHG5):c.440-2A>G
|
rs144750655
|
|
NM_020631.5(PLEKHG5):c.47C>G (p.Ser16Cys)
|
rs201090415
|
|
NM_020631.5(PLEKHG5):c.482T>C (p.Met161Thr)
|
rs140817021
|
|
NM_020631.5(PLEKHG5):c.495G>C (p.Lys165Asn)
|
rs150772386
|
|
NM_020631.5(PLEKHG5):c.518G>A (p.Arg173Gln)
|
rs142378760
|
|
NM_020631.5(PLEKHG5):c.532G>A (p.Gly178Arg)
|
rs143484278
|
|
NM_020631.5(PLEKHG5):c.541G>A (p.Ala181Thr)
|
rs527341275
|
|
NM_020631.5(PLEKHG5):c.547G>A (p.Glu183Lys)
|
rs886046502
|
|
NM_020631.5(PLEKHG5):c.551G>A (p.Arg184His)
|
rs750080171
|
|
NM_020631.5(PLEKHG5):c.569G>A (p.Arg190His)
|
rs770010475
|
|
NM_020631.5(PLEKHG5):c.571C>T (p.Arg191Trp)
|
rs183712624
|
|
NM_020631.5(PLEKHG5):c.572G>A (p.Arg191Gln)
|
rs541234129
|
|
NM_020631.5(PLEKHG5):c.586A>G (p.Ile196Val)
|
rs1159602956
|
|
NM_020631.5(PLEKHG5):c.59G>A (p.Arg20Gln)
|
rs1259066437
|
|
NM_020631.5(PLEKHG5):c.607C>T (p.Arg203Cys)
|
rs1315441735
|
|
NM_020631.5(PLEKHG5):c.620C>T (p.Ser207Leu)
|
rs572530276
|
|
NM_020631.5(PLEKHG5):c.633G>T (p.Gly211=)
|
rs1365704916
|
|
NM_020631.5(PLEKHG5):c.638C>T (p.Ala213Val)
|
rs367543633
|
|
NM_020631.5(PLEKHG5):c.64G>A (p.Val22Met)
|
rs112530241
|
|
NM_020631.5(PLEKHG5):c.655G>A (p.Glu219Lys)
|
rs774845320
|
|
NM_020631.5(PLEKHG5):c.665C>A (p.Thr222Lys)
|
rs373678202
|
|
NM_020631.5(PLEKHG5):c.707C>T (p.Thr236Ile)
|
rs1180691543
|
|
NM_020631.5(PLEKHG5):c.718G>A (p.Asp240Asn)
|
rs765882140
|
|
NM_020631.5(PLEKHG5):c.719A>G (p.Asp240Gly)
|
rs199794578
|
|
NM_020631.5(PLEKHG5):c.73C>T (p.Arg25Trp)
|
rs377503203
|
|
NM_020631.5(PLEKHG5):c.745C>T (p.Arg249Cys)
|
rs1436222408
|
|
NM_020631.5(PLEKHG5):c.74G>C (p.Arg25Pro)
|
rs1201574261
|
|
NM_020631.5(PLEKHG5):c.753C>T (p.Ser251=)
|
rs556687525
|
|
NM_020631.5(PLEKHG5):c.767C>T (p.Ser256Phe)
|
rs376782083
|
|
NM_020631.5(PLEKHG5):c.784G>C (p.Ala262Pro)
|
rs550362834
|
|
NM_020631.5(PLEKHG5):c.793C>T (p.Arg265Trp)
|
rs879253921
|
|
NM_020631.5(PLEKHG5):c.795+13A>G
|
rs766753209
|
|
NM_020631.5(PLEKHG5):c.796-9T>G
|
rs776663985
|
|
NM_020631.5(PLEKHG5):c.806A>T (p.Lys269Met)
|
rs886046501
|
|
NM_020631.5(PLEKHG5):c.80G>A (p.Cys27Tyr)
|
rs1569889912
|
|
NM_020631.5(PLEKHG5):c.823G>A (p.Gly275Ser)
|
rs201267486
|
|
NM_020631.5(PLEKHG5):c.82C>T (p.Pro28Ser)
|
rs373539850
|
|
NM_020631.5(PLEKHG5):c.83C>T (p.Pro28Leu)
|
rs143585428
|
|
NM_020631.5(PLEKHG5):c.865C>T (p.Pro289Ser)
|
rs373198302
|
|
NM_020631.5(PLEKHG5):c.86C>T (p.Pro29Leu)
|
rs998963899
|
|
NM_020631.5(PLEKHG5):c.877C>T (p.Arg293Cys)
|
rs374645103
|
|
NM_020631.5(PLEKHG5):c.882C>T (p.Phe294=)
|
rs370572859
|
|
NM_020631.5(PLEKHG5):c.88C>T (p.Arg30Cys)
|
rs111400494
|
|
NM_020631.5(PLEKHG5):c.89G>A (p.Arg30His)
|
rs199745947
|
|
NM_020631.5(PLEKHG5):c.912_914del (p.Asp304del)
|
rs1557744230
|
|
NM_020631.5(PLEKHG5):c.913G>A (p.Glu305Lys)
|
rs750943470
|
|
NM_020631.5(PLEKHG5):c.916G>A (p.Asp306Asn)
|
rs781614887
|
|
NM_020631.5(PLEKHG5):c.918C>T (p.Asp306=)
|
rs111624565
|
|
NM_020631.5(PLEKHG5):c.928G>A (p.Asp310Asn)
|
rs61730399
|
|
NM_020631.5(PLEKHG5):c.931A>C (p.Asn311His)
|
rs146020517
|
|
NM_020631.5(PLEKHG5):c.971T>C (p.Ile324Thr)
|
rs746862312
|
|
NM_020631.5(PLEKHG5):c.994C>T (p.Arg332Trp)
|
rs140202670
|
|
NM_020631.5(PLEKHG5):c.995G>A (p.Arg332Gln)
|
rs769390222
|
|
NM_020631.5(PLEKHG5):c.997C>A (p.Arg333=)
|
rs148232621
|
|
NM_020631.5(PLEKHG5):c.997C>T (p.Arg333Trp)
|
rs148232621
|
|
NM_020631.5(PLEKHG5):c.998G>A (p.Arg333Gln)
|
rs759306471
|
|
NM_020631.6(PLEKHG5):c.*159G>A
|
|
|
NM_020631.6(PLEKHG5):c.*236G>A
|
|
|
NM_020631.6(PLEKHG5):c.*285C>T
|
|
|
NM_020631.6(PLEKHG5):c.*304C>T
|
|
|
NM_020631.6(PLEKHG5):c.-54C>T
|
|
|
NM_020631.6(PLEKHG5):c.-66C>T
|
|
|
NM_020631.6(PLEKHG5):c.-88+6198G>T
|
rs1472251626
|
|
NM_020631.6(PLEKHG5):c.-88+6287G>A
|
|
|
NM_020631.6(PLEKHG5):c.1004G>T (p.Cys335Phe)
|
|
|
NM_020631.6(PLEKHG5):c.100G>A (p.Ala34Thr)
|
|
|
NM_020631.6(PLEKHG5):c.1054A>G (p.Ile352Val)
|
|
|
NM_020631.6(PLEKHG5):c.1067G>A (p.Arg356Gln)
|
|
|
NM_020631.6(PLEKHG5):c.1080+5G>T
|
|
|
NM_020631.6(PLEKHG5):c.1102A>T (p.Asn368Tyr)
|
|
|
NM_020631.6(PLEKHG5):c.1118G>A (p.Gly373Glu)
|
|
|
NM_020631.6(PLEKHG5):c.112GAG[8] (p.Glu42_Glu43dup)
|
rs760139855
|
|
NM_020631.6(PLEKHG5):c.112GAG[9] (p.Glu41_Glu43dup)
|
|
|
NM_020631.6(PLEKHG5):c.1131+5G>T
|
|
|
NM_020631.6(PLEKHG5):c.1145G>C (p.Arg382Pro)
|
|
|
NM_020631.6(PLEKHG5):c.1161C>G (p.Ile387Met)
|
|
|
NM_020631.6(PLEKHG5):c.1162C>T (p.Pro388Ser)
|
|
|
NM_020631.6(PLEKHG5):c.1183C>G (p.Arg395Gly)
|
|
|
NM_020631.6(PLEKHG5):c.1200C>G (p.Ser400Arg)
|
|
|
NM_020631.6(PLEKHG5):c.1231C>T (p.Arg411Cys)
|
|
|
NM_020631.6(PLEKHG5):c.1251G>T (p.Gln417His)
|
|
|
NM_020631.6(PLEKHG5):c.1345A>G (p.Met449Val)
|
|
|
NM_020631.6(PLEKHG5):c.1385A>G (p.Tyr462Cys)
|
|
|
NM_020631.6(PLEKHG5):c.1392+8C>T
|
|
|
NM_020631.6(PLEKHG5):c.1393-16C>G
|
|
|
NM_020631.6(PLEKHG5):c.1397C>T (p.Ala466Val)
|
|
|
NM_020631.6(PLEKHG5):c.140A>C (p.Asp47Ala)
|
|
|
NM_020631.6(PLEKHG5):c.1421G>T (p.Arg474Met)
|
|
|
NM_020631.6(PLEKHG5):c.1430T>A (p.Leu477Gln)
|
|
|
NM_020631.6(PLEKHG5):c.1448A>G (p.Lys483Arg)
|
rs1242593815
|
|
NM_020631.6(PLEKHG5):c.1469A>T (p.Lys490Met)
|
|
|
NM_020631.6(PLEKHG5):c.1471T>A (p.Tyr491Asn)
|
|
|
NM_020631.6(PLEKHG5):c.1496T>G (p.Leu499Arg)
|
|
|
NM_020631.6(PLEKHG5):c.1520C>T (p.Ala507Val)
|
|
|
NM_020631.6(PLEKHG5):c.1528G>A (p.Ala510Thr)
|
|
|
NM_020631.6(PLEKHG5):c.1537G>T (p.Ala513Ser)
|
|
|
NM_020631.6(PLEKHG5):c.1559G>T (p.Arg520Leu)
|
|
|
NM_020631.6(PLEKHG5):c.155G>A (p.Arg52Gln)
|
|
|
NM_020631.6(PLEKHG5):c.1588C>T (p.Arg530Trp)
|
|
|
NM_020631.6(PLEKHG5):c.1604G>A (p.Arg535Gln)
|
|
|
NM_020631.6(PLEKHG5):c.1621G>A (p.Val541Met)
|
|
|
NM_020631.6(PLEKHG5):c.1681-3C>T
|
|
|
NM_020631.6(PLEKHG5):c.1703T>C (p.Leu568Pro)
|
|
|
NM_020631.6(PLEKHG5):c.1715C>T (p.Ala572Val)
|
|
|
NM_020631.6(PLEKHG5):c.1725T>A (p.Pro575=)
|
|
|
NM_020631.6(PLEKHG5):c.1741G>A (p.Glu581Lys)
|
rs267598690
|
|
NM_020631.6(PLEKHG5):c.1868G>C (p.Arg623Thr)
|
|
|
NM_020631.6(PLEKHG5):c.1897G>A (p.Val633Met)
|
|
|
NM_020631.6(PLEKHG5):c.1930C>G (p.Pro644Ala)
|
|
|
NM_020631.6(PLEKHG5):c.1934G>C (p.Gly645Ala)
|
|
|
NM_020631.6(PLEKHG5):c.1955T>C (p.Leu652Pro)
|
|
|
NM_020631.6(PLEKHG5):c.1966C>T (p.His656Tyr)
|
|
|
NM_020631.6(PLEKHG5):c.1979G>A (p.Gly660Glu)
|
|
|
NM_020631.6(PLEKHG5):c.19G>A (p.Val7Ile)
|
|
|
NM_020631.6(PLEKHG5):c.2060A>T (p.Gln687Leu)
|
|
|
NM_020631.6(PLEKHG5):c.2068C>T (p.Arg690Cys)
|
|
|
NM_020631.6(PLEKHG5):c.211-3C>T
|
|
|
NM_020631.6(PLEKHG5):c.2127T>A (p.Asp709Glu)
|
|
|
NM_020631.6(PLEKHG5):c.2145GGA[10] (p.Glu722_Glu723dup)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2145GGA[2] (p.Glu718_Glu723del)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723dup)
|
rs113541584
|
|
NM_020631.6(PLEKHG5):c.2149G>A (p.Glu717Lys)
|
|
|
NM_020631.6(PLEKHG5):c.2161G>A (p.Glu721Lys)
|
|
|
NM_020631.6(PLEKHG5):c.2163G>T (p.Glu721Asp)
|
|
|
NM_020631.6(PLEKHG5):c.2173G>A (p.Glu725Lys)
|
|
|
NM_020631.6(PLEKHG5):c.2180G>T (p.Ser727Ile)
|
|
|
NM_020631.6(PLEKHG5):c.2209A>G (p.Ile737Val)
|
|
|
NM_020631.6(PLEKHG5):c.2228G>C (p.Gly743Ala)
|
|
|
NM_020631.6(PLEKHG5):c.2332G>A (p.Gly778Ser)
|
|
|
NM_020631.6(PLEKHG5):c.23G>A (p.Arg8His)
|
|
|
NM_020631.6(PLEKHG5):c.2419C>T (p.Pro807Ser)
|
|
|
NM_020631.6(PLEKHG5):c.2473A>G (p.Thr825Ala)
|
|
|
NM_020631.6(PLEKHG5):c.2513A>G (p.Glu838Gly)
|
|
|
NM_020631.6(PLEKHG5):c.2537C>A (p.Ser846Tyr)
|
|
|
NM_020631.6(PLEKHG5):c.2539C>T (p.Pro847Ser)
|
|
|
NM_020631.6(PLEKHG5):c.2569C>T (p.Arg857Cys)
|
|
|
NM_020631.6(PLEKHG5):c.2577C>T (p.Arg859=)
|
|
|
NM_020631.6(PLEKHG5):c.259A>T (p.Ile87Phe)
|
|
|
NM_020631.6(PLEKHG5):c.2642G>A (p.Ser881Asn)
|
|
|
NM_020631.6(PLEKHG5):c.2672C>T (p.Thr891Ile)
|
|
|
NM_020631.6(PLEKHG5):c.269A>G (p.Glu90Gly)
|
|
|
NM_020631.6(PLEKHG5):c.271A>T (p.Ile91Phe)
|
|
|
NM_020631.6(PLEKHG5):c.2744G>A (p.Arg915Lys)
|
|
|
NM_020631.6(PLEKHG5):c.2749C>G (p.Gln917Glu)
|
|
|
NM_020631.6(PLEKHG5):c.2759C>T (p.Pro920Leu)
|
|
|
NM_020631.6(PLEKHG5):c.2791G>C (p.Gly931Arg)
|
|
|
NM_020631.6(PLEKHG5):c.2801G>C (p.Ser934Thr)
|
|
|
NM_020631.6(PLEKHG5):c.2812G>A (p.Gly938Ser)
|
|
|
NM_020631.6(PLEKHG5):c.2818G>A (p.Gly940Arg)
|
|
|
NM_020631.6(PLEKHG5):c.286AAG[2] (p.Lys98del)
|
rs781153386
|
|
NM_020631.6(PLEKHG5):c.2879T>G (p.Leu960Arg)
|
|
|
NM_020631.6(PLEKHG5):c.2894C>T (p.Ser965Phe)
|
|
|
NM_020631.6(PLEKHG5):c.2915C>G (p.Pro972Arg)
|
|
|
NM_020631.6(PLEKHG5):c.2915C>T (p.Pro972Leu)
|
|
|
NM_020631.6(PLEKHG5):c.2968C>T (p.Arg990Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2969G>A (p.Arg990Gln)
|
|
|
NM_020631.6(PLEKHG5):c.2978C>A (p.Thr993Asn)
|
|
|
NM_020631.6(PLEKHG5):c.2989C>G (p.Leu997Val)
|
|
|
NM_020631.6(PLEKHG5):c.3011+3G>A
|
|
|
NM_020631.6(PLEKHG5):c.3012-17_3012-6del
|
|
|
NM_020631.6(PLEKHG5):c.367G>A (p.Asp123Asn)
|
|
|
NM_020631.6(PLEKHG5):c.400G>A (p.Glu134Lys)
|
|
|
NM_020631.6(PLEKHG5):c.411G>T (p.Arg137Ser)
|
|
|
NM_020631.6(PLEKHG5):c.422A>G (p.His141Arg)
|
|
|
NM_020631.6(PLEKHG5):c.440-11C>T
|
|
|
NM_020631.6(PLEKHG5):c.509C>A (p.Pro170Gln)
|
|
|
NM_020631.6(PLEKHG5):c.517C>G (p.Arg173Gly)
|
|
|
NM_020631.6(PLEKHG5):c.517C>T (p.Arg173Trp)
|
|
|
NM_020631.6(PLEKHG5):c.527G>C (p.Gly176Ala)
|
|
|
NM_020631.6(PLEKHG5):c.550C>T (p.Arg184Cys)
|
|
|
NM_020631.6(PLEKHG5):c.559G>A (p.Ala187Thr)
|
|
|
NM_020631.6(PLEKHG5):c.565A>G (p.Ser189Gly)
|
|
|
NM_020631.6(PLEKHG5):c.567CCG[1] (p.Arg191del)
|
|
|
NM_020631.6(PLEKHG5):c.568C>T (p.Arg190Cys)
|
|
|
NM_020631.6(PLEKHG5):c.58C>T (p.Arg20Trp)
|
|
|
NM_020631.6(PLEKHG5):c.608G>A (p.Arg203His)
|
|
|
NM_020631.6(PLEKHG5):c.649G>A (p.Gly217Arg)
|
|
|
NM_020631.6(PLEKHG5):c.654G>C (p.Gln218His)
|
|
|
NM_020631.6(PLEKHG5):c.701G>C (p.Gly234Ala)
|
|
|
NM_020631.6(PLEKHG5):c.733C>T (p.Arg245Trp)
|
|
|
NM_020631.6(PLEKHG5):c.826A>C (p.Lys276Gln)
|
|
|
NM_020631.6(PLEKHG5):c.845T>A (p.Leu282His)
|
|
|
NM_020631.6(PLEKHG5):c.884A>T (p.Asp295Val)
|
|
|
NM_020631.6(PLEKHG5):c.889G>A (p.Asp297Asn)
|
|
|
NM_020631.6(PLEKHG5):c.895T>G (p.Trp299Gly)
|
|
|
NM_020631.6(PLEKHG5):c.903_923del (p.Glu301_Glu307del)
|
|
|
NM_020631.6(PLEKHG5):c.917A>G (p.Asp306Gly)
|
|
|
NM_020631.6(PLEKHG5):c.919G>A (p.Glu307Lys)
|
|
|
NM_020631.6(PLEKHG5):c.91A>G (p.Thr31Ala)
|
|
|
NM_020631.6(PLEKHG5):c.951G>C (p.Glu317Asp)
|
|
|
NM_020631.6(PLEKHG5):c.95G>C (p.Ser32Thr)
|
|
|
NM_020631.6(PLEKHG5):c.961C>T (p.Arg321Trp)
|
|
|
NM_020631.6(PLEKHG5):c.984+3G>A
|
|
|
NM_198681.3(PLEKHG5):c.2219C>T (p.Thr740Met)
|
rs397515456
|
|
NM_198681.3(PLEKHG5):c.69C>T (p.Asp23=)
|
rs200424270
|
|
NM_198681.4(PLEKHG5):c.-120C>T
|
|
|
NM_198681.4(PLEKHG5):c.-99C>T
|
|