ClinVar Miner

List of variants in gene PLEKHG5 reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 605
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HGVS dbSNP gnomAD frequency
NM_020631.6(PLEKHG5):c.1393-16C>G rs747761762 0.02500
NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982 0.00334
NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399 0.00236
NM_020631.6(PLEKHG5):c.532G>A (p.Gly178Arg) rs143484278 0.00233
NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met) rs141032388 0.00206
NM_020631.6(PLEKHG5):c.64G>A (p.Val22Met) rs112530241 0.00171
NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400 0.00142
NM_020631.6(PLEKHG5):c.509C>T (p.Pro170Leu) rs59117380 0.00137
NM_020631.6(PLEKHG5):c.1019C>T (p.Ala340Val) rs72861528 0.00135
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670 0.00113
NM_020631.6(PLEKHG5):c.-88+6287G>A rs554689677 0.00099
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=) rs111624565 0.00091
NM_020631.6(PLEKHG5):c.*285C>T rs572888702 0.00066
NM_020631.6(PLEKHG5):c.1236G>A (p.Thr412=) rs376823275 0.00045
NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly) rs199794578 0.00041
NM_020631.6(PLEKHG5):c.1705G>A (p.Asp569Asn) rs200641225 0.00032
NM_020631.4(PLEKHG5):c.*1289C>G rs886046487 0.00029
NM_020631.6(PLEKHG5):c.2525G>A (p.Arg842Gln) rs149682441 0.00029
NM_020631.6(PLEKHG5):c.2751G>A (p.Gln917=) rs370666430 0.00028
NM_020631.6(PLEKHG5):c.620C>T (p.Ser207Leu) rs572530276 0.00027
NM_020631.6(PLEKHG5):c.440-2A>G rs144750655 0.00026
NM_198681.4(PLEKHG5):c.-99C>T rs373594469 0.00023
NM_020631.4(PLEKHG5):c.*1186A>G rs540290288 0.00019
NM_020631.6(PLEKHG5):c.1783G>C (p.Glu595Gln) rs140597591 0.00019
NM_020631.6(PLEKHG5):c.2575C>T (p.Arg859Cys) rs150666859 0.00019
NM_020631.6(PLEKHG5):c.2634C>T (p.Ser878=) rs367560509 0.00017
NM_020631.6(PLEKHG5):c.83C>T (p.Pro28Leu) rs143585428 0.00016
NM_020631.6(PLEKHG5):c.1616C>T (p.Ala539Val) rs370515061 0.00015
NM_020631.6(PLEKHG5):c.2614C>T (p.His872Tyr) rs372143370 0.00015
NM_020631.6(PLEKHG5):c.1681-8G>C rs139041955 0.00013
NM_020631.6(PLEKHG5):c.1738G>A (p.Glu580Lys) rs760122001 0.00013
NM_020631.6(PLEKHG5):c.2746A>C (p.Thr916Pro) rs187886272 0.00013
NM_020631.6(PLEKHG5):c.2610G>A (p.Pro870=) rs373880458 0.00012
NM_020631.6(PLEKHG5):c.541G>A (p.Ala181Thr) rs527341275 0.00012
NM_020631.6(PLEKHG5):c.971T>C (p.Ile324Thr) rs746862312 0.00012
NM_020631.4(PLEKHG5):c.*1347G>T rs886046486 0.00011
NM_020631.6(PLEKHG5):c.2390C>T (p.Thr797Met) rs111724922 0.00010
NM_020631.6(PLEKHG5):c.2457C>T (p.Tyr819=) rs184541137 0.00010
NM_020631.6(PLEKHG5):c.2789G>A (p.Arg930Gln) rs376237905 0.00010
NM_198681.4(PLEKHG5):c.-163C>T rs200424270 0.00010
NM_020631.5(PLEKHG5):c.*801G>A rs886046491 0.00009
NM_020631.6(PLEKHG5):c.2212A>G (p.Met738Val) rs778686532 0.00009
NM_020631.6(PLEKHG5):c.2215C>T (p.Arg739Trp) rs189468475 0.00009
NM_020631.6(PLEKHG5):c.2885C>T (p.Ser962Leu) rs369440409 0.00009
NM_020631.6(PLEKHG5):c.518G>A (p.Arg173Gln) rs142378760 0.00009
NM_020631.6(PLEKHG5):c.1393-5C>T rs780578894 0.00008
NM_020631.6(PLEKHG5):c.2427C>T (p.Asp809=) rs369876443 0.00008
NM_020631.6(PLEKHG5):c.2485G>T (p.Asp829Tyr) rs200162521 0.00008
NM_020631.6(PLEKHG5):c.571C>T (p.Arg191Trp) rs183712624 0.00008
NM_020631.6(PLEKHG5):c.882C>T (p.Phe294=) rs370572859 0.00008
NM_020631.6(PLEKHG5):c.1510G>A (p.Glu504Lys) rs552364487 0.00007
NM_020631.6(PLEKHG5):c.1883G>A (p.Arg628Lys) rs144245744 0.00007
NM_020631.6(PLEKHG5):c.2227G>A (p.Gly743Ser) rs145073653 0.00007
NM_020631.6(PLEKHG5):c.718G>A (p.Asp240Asn) rs765882140 0.00007
NM_020631.4(PLEKHG5):c.*1332C>A rs538419041 0.00006
NM_020631.4(PLEKHG5):c.*1333C>T rs1157083758 0.00006
NM_020631.6(PLEKHG5):c.1066C>T (p.Arg356Trp) rs764053619 0.00006
NM_020631.6(PLEKHG5):c.124G>C (p.Glu42Gln) rs373611638 0.00006
NM_020631.6(PLEKHG5):c.1697T>A (p.Leu566Gln) rs376513313 0.00006
NM_020631.6(PLEKHG5):c.1924C>T (p.Arg642Trp) rs139188442 0.00006
NM_020631.6(PLEKHG5):c.2543G>A (p.Arg848Gln) rs761000380 0.00006
NM_020631.6(PLEKHG5):c.274G>A (p.Val92Ile) rs371516662 0.00006
NM_020631.6(PLEKHG5):c.439+12C>G rs778853521 0.00006
NM_020631.6(PLEKHG5):c.568C>T (p.Arg190Cys) rs763551102 0.00006
NM_020631.6(PLEKHG5):c.665C>T (p.Thr222Met) rs373678202 0.00006
NM_020631.6(PLEKHG5):c.1507G>C (p.Glu503Gln) rs868161574 0.00005
NM_020631.6(PLEKHG5):c.2117A>G (p.Glu706Gly) rs200964010 0.00005
NM_020631.6(PLEKHG5):c.2172C>T (p.Gly724=) rs759430357 0.00005
NM_020631.6(PLEKHG5):c.2569C>T (p.Arg857Cys) rs193245630 0.00005
NM_020631.6(PLEKHG5):c.2864A>G (p.Lys955Arg) rs771066341 0.00005
NM_020631.6(PLEKHG5):c.654G>C (p.Gln218His) rs909536143 0.00005
NM_020631.4(PLEKHG5):c.*1087G>T rs761811347 0.00004
NM_020631.5(PLEKHG5):c.*816C>T rs1557731626 0.00004
NM_020631.6(PLEKHG5):c.*159G>A rs909809050 0.00004
NM_020631.6(PLEKHG5):c.*304C>T rs549168459 0.00004
NM_020631.6(PLEKHG5):c.*68C>T rs886046496 0.00004
NM_020631.6(PLEKHG5):c.100G>A (p.Ala34Thr) rs760113279 0.00004
NM_020631.6(PLEKHG5):c.1145G>C (p.Arg382Pro) rs1020039192 0.00004
NM_020631.6(PLEKHG5):c.1469A>G (p.Lys490Arg) rs534760199 0.00004
NM_020631.6(PLEKHG5):c.1572C>T (p.His524=) rs373184968 0.00004
NM_020631.6(PLEKHG5):c.1729G>A (p.Ala577Thr) rs143545780 0.00004
NM_020631.6(PLEKHG5):c.2021G>A (p.Gly674Asp) rs772414205 0.00004
NM_020631.6(PLEKHG5):c.2149G>A (p.Glu717Lys) rs184242303 0.00004
NM_020631.6(PLEKHG5):c.2759C>T (p.Pro920Leu) rs1436307319 0.00004
NM_020631.6(PLEKHG5):c.430C>T (p.Arg144Cys) rs778272514 0.00004
NM_020631.6(PLEKHG5):c.638C>T (p.Ala213Val) rs367543633 0.00004
NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=) rs556687525 0.00004
NM_020631.6(PLEKHG5):c.793C>T (p.Arg265Trp) rs879253921 0.00004
NM_020631.6(PLEKHG5):c.823G>A (p.Gly275Ser) rs201267486 0.00004
NM_020631.6(PLEKHG5):c.916G>A (p.Asp306Asn) rs781614887 0.00004
NM_020631.5(PLEKHG5):c.*905G>A rs886046490 0.00003
NM_020631.6(PLEKHG5):c.1170C>G (p.Ile390Met) rs771928245 0.00003
NM_020631.6(PLEKHG5):c.117G>C (p.Glu39Asp) rs377673289 0.00003
NM_020631.6(PLEKHG5):c.1184G>A (p.Arg395His) rs779612506 0.00003
NM_020631.6(PLEKHG5):c.1264C>T (p.Leu422Phe) rs779799130 0.00003
NM_020631.6(PLEKHG5):c.1345A>G (p.Met449Val) rs767686554 0.00003
NM_020631.6(PLEKHG5):c.1513C>T (p.Pro505Ser) rs530846615 0.00003
NM_020631.6(PLEKHG5):c.155G>A (p.Arg52Gln) rs1022969911 0.00003
NM_020631.6(PLEKHG5):c.161G>A (p.Ser54Asn) rs376703933 0.00003
NM_020631.6(PLEKHG5):c.1639G>A (p.Ala547Thr) rs769066586 0.00003
NM_020631.6(PLEKHG5):c.2131C>G (p.Gln711Glu) rs761272621 0.00003
NM_020631.6(PLEKHG5):c.2365C>T (p.Leu789Phe) rs138822181 0.00003
NM_020631.6(PLEKHG5):c.2432G>A (p.Arg811His) rs891527256 0.00003
NM_020631.6(PLEKHG5):c.2691C>T (p.Ala897=) rs755539639 0.00003
NM_020631.6(PLEKHG5):c.2720T>C (p.Leu907Pro) rs764378556 0.00003
NM_020631.6(PLEKHG5):c.395C>T (p.Thr132Ile) rs761640668 0.00003
NM_020631.6(PLEKHG5):c.58C>T (p.Arg20Trp) rs776026198 0.00003
NM_020631.6(PLEKHG5):c.607C>T (p.Arg203Cys) rs1315441735 0.00003
NM_020631.6(PLEKHG5):c.73C>T (p.Arg25Trp) rs377503203 0.00003
NM_020631.6(PLEKHG5):c.784G>C (p.Ala262Pro) rs550362834 0.00003
NM_020631.6(PLEKHG5):c.865C>T (p.Pro289Ser) rs373198302 0.00003
NM_020631.6(PLEKHG5):c.869G>A (p.Arg290Gln) rs147752853 0.00003
NM_020631.6(PLEKHG5):c.998G>A (p.Arg333Gln) rs759306471 0.00003
NM_198681.4(PLEKHG5):c.-117G>A rs763049504 0.00003
NM_020631.4(PLEKHG5):c.*1006C>T rs886046489 0.00002
NM_020631.4(PLEKHG5):c.*1354T>C rs886046485 0.00002
NM_020631.6(PLEKHG5):c.1280T>C (p.Met427Thr) rs754678569 0.00002
NM_020631.6(PLEKHG5):c.1393-10C>A rs768925221 0.00002
NM_020631.6(PLEKHG5):c.1397C>T (p.Ala466Val) rs199839017 0.00002
NM_020631.6(PLEKHG5):c.1594C>T (p.Arg532Trp) rs756933610 0.00002
NM_020631.6(PLEKHG5):c.1621G>A (p.Val541Met) rs376903637 0.00002
NM_020631.6(PLEKHG5):c.1643A>G (p.Tyr548Cys) rs749530565 0.00002
NM_020631.6(PLEKHG5):c.1715C>T (p.Ala572Val) rs761560984 0.00002
NM_020631.6(PLEKHG5):c.1826C>T (p.Thr609Met) rs553151077 0.00002
NM_020631.6(PLEKHG5):c.1897G>A (p.Val633Met) rs768944520 0.00002
NM_020631.6(PLEKHG5):c.2017C>T (p.Arg673Cys) rs747057331 0.00002
NM_020631.6(PLEKHG5):c.2066T>G (p.Leu689Arg) rs200366574 0.00002
NM_020631.6(PLEKHG5):c.2084C>T (p.Pro695Leu) rs757841807 0.00002
NM_020631.6(PLEKHG5):c.2173G>A (p.Glu725Lys) rs776282542 0.00002
NM_020631.6(PLEKHG5):c.2213T>A (p.Met738Lys) rs1305950436 0.00002
NM_020631.6(PLEKHG5):c.2216G>A (p.Arg739Gln) rs754583609 0.00002
NM_020631.6(PLEKHG5):c.2252C>T (p.Ala751Val) rs1191857286 0.00002
NM_020631.6(PLEKHG5):c.2281A>G (p.Met761Val) rs201647966 0.00002
NM_020631.6(PLEKHG5):c.2420C>T (p.Pro807Leu) rs371547045 0.00002
NM_020631.6(PLEKHG5):c.2431C>T (p.Arg811Cys) rs538561788 0.00002
NM_020631.6(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412 0.00002
NM_020631.6(PLEKHG5):c.2524C>T (p.Arg842Trp) rs770870023 0.00002
NM_020631.6(PLEKHG5):c.2577C>T (p.Arg859=) rs758214289 0.00002
NM_020631.6(PLEKHG5):c.2579G>A (p.Arg860His) rs765235144 0.00002
NM_020631.6(PLEKHG5):c.2582G>A (p.Arg861His) rs565558161 0.00002
NM_020631.6(PLEKHG5):c.2609C>T (p.Pro870Leu) rs772693344 0.00002
NM_020631.6(PLEKHG5):c.2812G>A (p.Gly938Ser) rs573883242 0.00002
NM_020631.6(PLEKHG5):c.2839G>A (p.Gly947Arg) rs555305602 0.00002
NM_020631.6(PLEKHG5):c.2867G>A (p.Arg956Lys) rs773530688 0.00002
NM_020631.6(PLEKHG5):c.2900G>T (p.Arg967Met) rs376606416 0.00002
NM_020631.6(PLEKHG5):c.2932G>C (p.Ala978Pro) rs368905339 0.00002
NM_020631.6(PLEKHG5):c.2969G>A (p.Arg990Gln) rs762876171 0.00002
NM_020631.6(PLEKHG5):c.2978C>A (p.Thr993Asn) rs769576836 0.00002
NM_020631.6(PLEKHG5):c.440-11C>T rs747418024 0.00002
NM_020631.6(PLEKHG5):c.487G>A (p.Asp163Asn) rs886471004 0.00002
NM_020631.6(PLEKHG5):c.527G>C (p.Gly176Ala) rs531190324 0.00002
NM_020631.6(PLEKHG5):c.733C>T (p.Arg245Trp) rs766490061 0.00002
NM_020631.6(PLEKHG5):c.767C>T (p.Ser256Phe) rs376782083 0.00002
NM_020631.6(PLEKHG5):c.795+13A>G rs766753209 0.00002
NM_020631.6(PLEKHG5):c.796-4C>T rs1315270235 0.00002
NM_020631.6(PLEKHG5):c.82C>T (p.Pro28Ser) rs373539850 0.00002
NM_020631.6(PLEKHG5):c.86C>T (p.Pro29Leu) rs998963899 0.00002
NM_020631.6(PLEKHG5):c.895T>G (p.Trp299Gly) rs112657733 0.00002
NM_020631.4(PLEKHG5):c.*1016A>G rs886046488 0.00001
NM_020631.4(PLEKHG5):c.*1374C>T rs1004946332 0.00001
NM_020631.5(PLEKHG5):c.*775T>G rs886046492 0.00001
NM_020631.6(PLEKHG5):c.*192G>A rs886046495 0.00001
NM_020631.6(PLEKHG5):c.*236G>A rs1308834107 0.00001
NM_020631.6(PLEKHG5):c.-88+6198G>T rs1472251626 0.00001
NM_020631.6(PLEKHG5):c.1038C>G (p.His346Gln) rs1553174547 0.00001
NM_020631.6(PLEKHG5):c.1040C>T (p.Thr347Met) rs1398980726 0.00001
NM_020631.6(PLEKHG5):c.1052A>G (p.Tyr351Cys) rs2523183819 0.00001
NM_020631.6(PLEKHG5):c.1054A>G (p.Ile352Val) rs200802048 0.00001
NM_020631.6(PLEKHG5):c.1067G>A (p.Arg356Gln) rs61743372 0.00001
NM_020631.6(PLEKHG5):c.1080+8G>C rs1553174495 0.00001
NM_020631.6(PLEKHG5):c.1081-3C>T rs772519809 0.00001
NM_020631.6(PLEKHG5):c.1082T>G (p.Leu361Arg) rs762368406 0.00001
NM_020631.6(PLEKHG5):c.1112A>C (p.Glu371Ala) rs1569861657 0.00001
NM_020631.6(PLEKHG5):c.1131+5G>T rs1293986972 0.00001
NM_020631.6(PLEKHG5):c.1139C>T (p.Ala380Val) rs374286001 0.00001
NM_020631.6(PLEKHG5):c.1142A>G (p.Glu381Gly) rs1327802744 0.00001
NM_020631.6(PLEKHG5):c.1166A>T (p.Glu389Val) rs1361465081 0.00001
NM_020631.6(PLEKHG5):c.1183C>G (p.Arg395Gly) rs1644589733 0.00001
NM_020631.6(PLEKHG5):c.1200C>G (p.Ser400Arg) rs755513110 0.00001
NM_020631.6(PLEKHG5):c.1219G>A (p.Glu407Lys) rs764744824 0.00001
NM_020631.6(PLEKHG5):c.1231C>T (p.Arg411Cys) rs1271841187 0.00001
NM_020631.6(PLEKHG5):c.1267A>G (p.Lys423Glu) rs1297083613 0.00001
NM_020631.6(PLEKHG5):c.1270G>A (p.Gly424Ser) rs1366436495 0.00001
NM_020631.6(PLEKHG5):c.1286G>C (p.Gly429Ala) rs1304686030 0.00001
NM_020631.6(PLEKHG5):c.1295T>C (p.Phe432Ser) rs1384133118 0.00001
NM_020631.6(PLEKHG5):c.1360C>T (p.Arg454Cys) rs200086651 0.00001
NM_020631.6(PLEKHG5):c.1367A>G (p.Asn456Ser) rs759384083 0.00001
NM_020631.6(PLEKHG5):c.1371C>T (p.Asp457=) rs776561735 0.00001
NM_020631.6(PLEKHG5):c.1391C>T (p.Thr464Met) rs777612808 0.00001
NM_020631.6(PLEKHG5):c.1392G>A (p.Thr464=) rs1412619450 0.00001
NM_020631.6(PLEKHG5):c.140A>C (p.Asp47Ala) rs1180280762 0.00001
NM_020631.6(PLEKHG5):c.1414T>G (p.Cys472Gly) rs1382976948 0.00001
NM_020631.6(PLEKHG5):c.142G>T (p.Gly48Cys) rs1644753835 0.00001
NM_020631.6(PLEKHG5):c.1430T>A (p.Leu477Gln) rs1469963388 0.00001
NM_020631.6(PLEKHG5):c.1447A>G (p.Lys483Glu) rs1277975852 0.00001
NM_020631.6(PLEKHG5):c.1448A>G (p.Lys483Arg) rs1242593815 0.00001
NM_020631.6(PLEKHG5):c.148G>C (p.Gly50Arg) rs779791612 0.00001
NM_020631.6(PLEKHG5):c.1496T>G (p.Leu499Arg) rs768323924 0.00001
NM_020631.6(PLEKHG5):c.1514C>T (p.Pro505Leu) rs770934745 0.00001
NM_020631.6(PLEKHG5):c.1535T>A (p.Val512Asp) rs548243654 0.00001
NM_020631.6(PLEKHG5):c.1552G>A (p.Val518Met) rs377602965 0.00001
NM_020631.6(PLEKHG5):c.1558C>T (p.Arg520Cys) rs999436825 0.00001
NM_020631.6(PLEKHG5):c.1576A>G (p.Asn526Asp) rs774755047 0.00001
NM_020631.6(PLEKHG5):c.1604G>A (p.Arg535Gln) rs752167528 0.00001
NM_020631.6(PLEKHG5):c.1610G>A (p.Arg537Gln) rs1322468026 0.00001
NM_020631.6(PLEKHG5):c.1681-3C>T rs370601982 0.00001
NM_020631.6(PLEKHG5):c.1736C>T (p.Pro579Leu) rs757727499 0.00001
NM_020631.6(PLEKHG5):c.1741G>A (p.Glu581Lys) rs267598690 0.00001
NM_020631.6(PLEKHG5):c.1827G>A (p.Thr609=) rs1245178945 0.00001
NM_020631.6(PLEKHG5):c.1874G>A (p.Arg625Lys) rs765998625 0.00001
NM_020631.6(PLEKHG5):c.1902C>A (p.Asp634Glu) rs749812123 0.00001
NM_020631.6(PLEKHG5):c.1930C>G (p.Pro644Ala) rs781318885 0.00001
NM_020631.6(PLEKHG5):c.1933+4A>G rs754759840 0.00001
NM_020631.6(PLEKHG5):c.1934-4C>G rs951050550 0.00001
NM_020631.6(PLEKHG5):c.1934G>C (p.Gly645Ala) rs749072819 0.00001
NM_020631.6(PLEKHG5):c.1951T>G (p.Tyr651Asp) rs1644501019 0.00001
NM_020631.6(PLEKHG5):c.1988C>T (p.Thr663Met) rs397515456 0.00001
NM_020631.6(PLEKHG5):c.2042A>G (p.Asn681Ser) rs936501984 0.00001
NM_020631.6(PLEKHG5):c.211-3C>T rs754653668 0.00001
NM_020631.6(PLEKHG5):c.2127T>A (p.Asp709Glu) rs910994587 0.00001
NM_020631.6(PLEKHG5):c.2138A>C (p.Glu713Ala) rs1241363420 0.00001
NM_020631.6(PLEKHG5):c.214C>A (p.Pro72Thr) rs886044171 0.00001
NM_020631.6(PLEKHG5):c.2201C>T (p.Ser734Phe) rs554772993 0.00001
NM_020631.6(PLEKHG5):c.2209A>G (p.Ile737Val) rs1644484109 0.00001
NM_020631.6(PLEKHG5):c.2210T>G (p.Ile737Ser) rs1644484048 0.00001
NM_020631.6(PLEKHG5):c.2228G>C (p.Gly743Ala) rs1245961862 0.00001
NM_020631.6(PLEKHG5):c.2234C>G (p.Pro745Arg) rs536038159 0.00001
NM_020631.6(PLEKHG5):c.2249+4C>T rs751575330 0.00001
NM_020631.6(PLEKHG5):c.2267C>T (p.Thr756Met) rs781778550 0.00001
NM_020631.6(PLEKHG5):c.2306C>T (p.Thr769Met) rs1000775772 0.00001
NM_020631.6(PLEKHG5):c.2326G>A (p.Asp776Asn) rs542531545 0.00001
NM_020631.6(PLEKHG5):c.2332G>A (p.Gly778Ser) rs768087057 0.00001
NM_020631.6(PLEKHG5):c.2335C>T (p.Pro779Ser) rs2523119135 0.00001
NM_020631.6(PLEKHG5):c.2411C>T (p.Pro804Leu) rs1400722803 0.00001
NM_020631.6(PLEKHG5):c.2419C>T (p.Pro807Ser) rs1175956588 0.00001
NM_020631.6(PLEKHG5):c.2435C>T (p.Ser812Phe) rs145009237 0.00001
NM_020631.6(PLEKHG5):c.2438G>A (p.Cys813Tyr) rs771230935 0.00001
NM_020631.6(PLEKHG5):c.2456A>G (p.Tyr819Cys) rs967921793 0.00001
NM_020631.6(PLEKHG5):c.2473A>G (p.Thr825Ala) rs779264802 0.00001
NM_020631.6(PLEKHG5):c.2506A>G (p.Met836Val) rs752621606 0.00001
NM_020631.6(PLEKHG5):c.2564C>T (p.Ser855Leu) rs768995193 0.00001
NM_020631.6(PLEKHG5):c.2578C>T (p.Arg860Cys) rs557256913 0.00001
NM_020631.6(PLEKHG5):c.259A>T (p.Ile87Phe) rs756639742 0.00001
NM_020631.6(PLEKHG5):c.2642G>A (p.Ser881Asn) rs769702301 0.00001
NM_020631.6(PLEKHG5):c.2652G>T (p.Gln884His) rs1313098981 0.00001
NM_020631.6(PLEKHG5):c.2698C>T (p.Arg900Cys) rs750132016 0.00001
NM_020631.6(PLEKHG5):c.2713C>T (p.Leu905Phe) rs774696513 0.00001
NM_020631.6(PLEKHG5):c.271A>T (p.Ile91Phe) rs993754184 0.00001
NM_020631.6(PLEKHG5):c.2728C>T (p.Pro910Ser) rs1334075760 0.00001
NM_020631.6(PLEKHG5):c.2737G>C (p.Gly913Arg) rs1407992685 0.00001
NM_020631.6(PLEKHG5):c.2801G>C (p.Ser934Thr) rs1404826523 0.00001
NM_020631.6(PLEKHG5):c.2818G>A (p.Gly940Arg) rs755699992 0.00001
NM_020631.6(PLEKHG5):c.2826C>T (p.Val942=) rs749891873 0.00001
NM_020631.6(PLEKHG5):c.2837C>T (p.Ala946Val) rs751158651 0.00001
NM_020631.6(PLEKHG5):c.2924G>A (p.Gly975Glu) rs904247137 0.00001
NM_020631.6(PLEKHG5):c.292A>G (p.Lys98Glu) rs770771316 0.00001
NM_020631.6(PLEKHG5):c.2933C>T (p.Ala978Val) rs150133974 0.00001
NM_020631.6(PLEKHG5):c.2944A>G (p.Lys982Glu) rs766598822 0.00001
NM_020631.6(PLEKHG5):c.2952C>T (p.Thr984=) rs886046497 0.00001
NM_020631.6(PLEKHG5):c.2968C>T (p.Arg990Ter) rs772171318 0.00001
NM_020631.6(PLEKHG5):c.2989C>G (p.Leu997Val) rs1360003341 0.00001
NM_020631.6(PLEKHG5):c.2999C>T (p.Thr1000Met) rs781065380 0.00001
NM_020631.6(PLEKHG5):c.3011+3G>A rs929173295 0.00001
NM_020631.6(PLEKHG5):c.400G>A (p.Glu134Lys) rs768676402 0.00001
NM_020631.6(PLEKHG5):c.411G>T (p.Arg137Ser) rs762546636 0.00001
NM_020631.6(PLEKHG5):c.422A>G (p.His141Arg) rs371931309 0.00001
NM_020631.6(PLEKHG5):c.47C>G (p.Ser16Cys) rs201090415 0.00001
NM_020631.6(PLEKHG5):c.484A>G (p.Lys162Glu) rs1644685170 0.00001
NM_020631.6(PLEKHG5):c.494A>G (p.Lys165Arg) rs765159050 0.00001
NM_020631.6(PLEKHG5):c.530C>A (p.Thr177Asn) rs1482066801 0.00001
NM_020631.6(PLEKHG5):c.538C>T (p.Pro180Ser) rs752485682 0.00001
NM_020631.6(PLEKHG5):c.550C>T (p.Arg184Cys) rs760118221 0.00001
NM_020631.6(PLEKHG5):c.551G>A (p.Arg184His) rs750080171 0.00001
NM_020631.6(PLEKHG5):c.562C>A (p.Gln188Lys) rs1177680415 0.00001
NM_020631.6(PLEKHG5):c.565A>G (p.Ser189Gly) rs1321100552 0.00001
NM_020631.6(PLEKHG5):c.566G>A (p.Ser189Asn) rs1404411924 0.00001
NM_020631.6(PLEKHG5):c.583G>A (p.Asp195Asn) rs1644679291 0.00001
NM_020631.6(PLEKHG5):c.59G>A (p.Arg20Gln) rs1259066437 0.00001
NM_020631.6(PLEKHG5):c.601C>T (p.Arg201Cys) rs561283132 0.00001
NM_020631.6(PLEKHG5):c.608G>A (p.Arg203His) rs939508255 0.00001
NM_020631.6(PLEKHG5):c.631G>C (p.Gly211Arg) rs1428031986 0.00001
NM_020631.6(PLEKHG5):c.649G>A (p.Gly217Arg) rs1253304988 0.00001
NM_020631.6(PLEKHG5):c.655G>A (p.Glu219Lys) rs774845320 0.00001
NM_020631.6(PLEKHG5):c.701G>C (p.Gly234Ala) rs1348491680 0.00001
NM_020631.6(PLEKHG5):c.707C>T (p.Thr236Ile) rs1180691543 0.00001
NM_020631.6(PLEKHG5):c.746G>A (p.Arg249His) rs1172862216 0.00001
NM_020631.6(PLEKHG5):c.74G>A (p.Arg25Gln) rs1201574261 0.00001
NM_020631.6(PLEKHG5):c.794G>A (p.Arg265Gln) rs1280977628 0.00001
NM_020631.6(PLEKHG5):c.814C>A (p.Gln272Lys) rs2523191119 0.00001
NM_020631.6(PLEKHG5):c.835A>G (p.Thr279Ala) rs376817987 0.00001
NM_020631.6(PLEKHG5):c.850G>A (p.Gly284Arg) rs569434019 0.00001
NM_020631.6(PLEKHG5):c.877C>T (p.Arg293Cys) rs374645103 0.00001
NM_020631.6(PLEKHG5):c.884A>T (p.Asp295Val) rs1356599252 0.00001
NM_020631.6(PLEKHG5):c.890A>G (p.Asp297Gly) rs768170960 0.00001
NM_020631.6(PLEKHG5):c.913G>A (p.Glu305Lys) rs750943470 0.00001
NM_020631.6(PLEKHG5):c.917A>G (p.Asp306Gly) rs145340974 0.00001
NM_020631.6(PLEKHG5):c.919G>A (p.Glu307Lys) rs148745591 0.00001
NM_020631.6(PLEKHG5):c.931A>C (p.Asn311His) rs146020517 0.00001
NM_020631.6(PLEKHG5):c.944G>A (p.Arg315Lys) rs573628172 0.00001
NM_020631.6(PLEKHG5):c.95G>C (p.Ser32Thr) rs763262703 0.00001
NM_020631.6(PLEKHG5):c.961C>T (p.Arg321Trp) rs761456870 0.00001
NM_020631.6(PLEKHG5):c.979C>T (p.His327Tyr) rs1644638739 0.00001
NM_020631.6(PLEKHG5):c.995G>A (p.Arg332Gln) rs769390222 0.00001
NC_000001.10:g.(?_6527623)_(6537631_?)dup
NM_001265592.2(PLEKHG5):c.-42_-38del
NM_020631.4(PLEKHG5):c.*981dupC rs553519753
NM_020631.4(PLEKHG5):c.-5773T>A rs1569979570
NM_020631.5(PLEKHG5):c.*555T>A rs886046494
NM_020631.5(PLEKHG5):c.*573G>A rs1644399627
NM_020631.5(PLEKHG5):c.*750delC rs886046493
NM_020631.5(PLEKHG5):c.*751delT rs372197062
NM_020631.6(PLEKHG5):c.*363C>G rs186882493
NM_020631.6(PLEKHG5):c.-88+6297G>C
NM_020631.6(PLEKHG5):c.1004G>T (p.Cys335Phe) rs1569865500
NM_020631.6(PLEKHG5):c.1013A>G (p.Gln338Arg) rs2523184311
NM_020631.6(PLEKHG5):c.1037A>G (p.His346Arg) rs2148587188
NM_020631.6(PLEKHG5):c.1051T>C (p.Tyr351His) rs1569865241
NM_020631.6(PLEKHG5):c.1064T>C (p.Leu355Pro) rs372001535
NM_020631.6(PLEKHG5):c.1073TCA[1] (p.Ile359del) rs2523183335
NM_020631.6(PLEKHG5):c.1080+5G>T rs1644623669
NM_020631.6(PLEKHG5):c.1086C>G (p.Phe362Leu) rs1453195532
NM_020631.6(PLEKHG5):c.1088T>G (p.Leu363Arg)
NM_020631.6(PLEKHG5):c.1102A>T (p.Asn368Tyr) rs921634361
NM_020631.6(PLEKHG5):c.1111G>A (p.Glu371Lys) rs2148585629
NM_020631.6(PLEKHG5):c.1117G>A (p.Gly373Arg)
NM_020631.6(PLEKHG5):c.1118G>A (p.Gly373Glu) rs1644599017
NM_020631.6(PLEKHG5):c.1118G>C (p.Gly373Ala)
NM_020631.6(PLEKHG5):c.111G>C (p.Leu37Phe) rs1244644253
NM_020631.6(PLEKHG5):c.1127G>T (p.Cys376Phe) rs780446983
NM_020631.6(PLEKHG5):c.112GAG[7] (p.Glu43_Ser44insGlu) rs760139855
NM_020631.6(PLEKHG5):c.112GAG[8] (p.Glu43_Ser44insGluGlu) rs760139855
NM_020631.6(PLEKHG5):c.112GAG[9] (p.Glu43_Ser44insGluGluGlu) rs760139855
NM_020631.6(PLEKHG5):c.1131+18_1131+34del rs2523172165
NM_020631.6(PLEKHG5):c.1131+19G>A rs746822140
NM_020631.6(PLEKHG5):c.1131+4C>T rs2523172857
NM_020631.6(PLEKHG5):c.1145G>T (p.Arg382Leu) rs1020039192
NM_020631.6(PLEKHG5):c.1161C>G (p.Ile387Met) rs1644590923
NM_020631.6(PLEKHG5):c.1162C>T (p.Pro388Ser) rs1644590851
NM_020631.6(PLEKHG5):c.1163C>G (p.Pro388Arg) rs746094917
NM_020631.6(PLEKHG5):c.1172C>G (p.Ala391Gly) rs2523169959
NM_020631.6(PLEKHG5):c.1211C>G (p.Pro404Arg) rs1173364500
NM_020631.6(PLEKHG5):c.124G>A (p.Glu42Lys) rs373611638
NM_020631.6(PLEKHG5):c.1251G>T (p.Gln417His) rs568915094
NM_020631.6(PLEKHG5):c.1256G>A (p.Gly419Glu) rs768648425
NM_020631.6(PLEKHG5):c.1271G>C (p.Gly424Ala) rs1209779631
NM_020631.6(PLEKHG5):c.1282-7G>A rs780551776
NM_020631.6(PLEKHG5):c.1284C>G (p.Phe428Leu) rs1222344225
NM_020631.6(PLEKHG5):c.1292T>G (p.Leu431Arg) rs746661057
NM_020631.6(PLEKHG5):c.1304A>G (p.Tyr435Cys) rs1569857188
NM_020631.6(PLEKHG5):c.1322AGG[2] (p.Glu443del) rs2148583756
NM_020631.6(PLEKHG5):c.1322AGG[4] (p.Glu443_Gly444insGlu) rs2148583756
NM_020631.6(PLEKHG5):c.1334G>T (p.Cys445Phe) rs1236863703
NM_020631.6(PLEKHG5):c.1336A>G (p.Met446Val) rs1303295078
NM_020631.6(PLEKHG5):c.1345A>C (p.Met449Leu) rs767686554
NM_020631.6(PLEKHG5):c.1346T>C (p.Met449Thr) rs1553174146
NM_020631.6(PLEKHG5):c.1378C>T (p.Arg460Trp)
NM_020631.6(PLEKHG5):c.1379G>A (p.Arg460Gln) rs1309731055
NM_020631.6(PLEKHG5):c.1385A>G (p.Tyr462Cys) rs2148583545
NM_020631.6(PLEKHG5):c.1392+5G>A rs2148583512
NM_020631.6(PLEKHG5):c.1392+8C>T rs771832632
NM_020631.6(PLEKHG5):c.1396G>A (p.Ala466Thr) rs757292650
NM_020631.6(PLEKHG5):c.1396G>C (p.Ala466Pro) rs757292650
NM_020631.6(PLEKHG5):c.1412A>G (p.Gln471Arg) rs1644551777
NM_020631.6(PLEKHG5):c.1415G>A (p.Cys472Tyr) rs2148583006
NM_020631.6(PLEKHG5):c.1421G>T (p.Arg474Met) rs1644551354
NM_020631.6(PLEKHG5):c.1428G>C (p.Lys476Asn) rs1243221708
NM_020631.6(PLEKHG5):c.1435G>A (p.Asp479Asn) rs2148582918
NM_020631.6(PLEKHG5):c.1439T>G (p.Met480Arg) rs2148582901
NM_020631.6(PLEKHG5):c.1448A>T (p.Lys483Ile) rs1242593815
NM_020631.6(PLEKHG5):c.1457A>G (p.Gln486Arg) rs2523156096
NM_020631.6(PLEKHG5):c.1469A>T (p.Lys490Met) rs534760199
NM_020631.6(PLEKHG5):c.1470G>T (p.Lys490Asn) rs2148582809
NM_020631.6(PLEKHG5):c.1471T>A (p.Tyr491Asn) rs1644549269
NM_020631.6(PLEKHG5):c.1495C>G (p.Leu499Val) rs1064796900
NM_020631.6(PLEKHG5):c.1498A>G (p.Arg500Gly) rs2523155224
NM_020631.6(PLEKHG5):c.1500G>C (p.Arg500Ser) rs752131172
NM_020631.6(PLEKHG5):c.1519G>A (p.Ala507Thr) rs868002197
NM_020631.6(PLEKHG5):c.1519G>C (p.Ala507Pro) rs868002197
NM_020631.6(PLEKHG5):c.1520C>T (p.Ala507Val) rs1464559999
NM_020631.6(PLEKHG5):c.1528G>A (p.Ala510Thr) rs1475922783
NM_020631.6(PLEKHG5):c.1535T>C (p.Val512Ala) rs548243654
NM_020631.6(PLEKHG5):c.1537G>T (p.Ala513Ser) rs1214327374
NM_020631.6(PLEKHG5):c.1543-2A>G rs1644540599
NM_020631.6(PLEKHG5):c.1543-5C>T rs1281567980
NM_020631.6(PLEKHG5):c.154C>G (p.Arg52Gly) rs777277703
NM_020631.6(PLEKHG5):c.154C>T (p.Arg52Trp)
NM_020631.6(PLEKHG5):c.1559G>T (p.Arg520Leu) rs1464358180
NM_020631.6(PLEKHG5):c.1570C>T (p.His524Tyr) rs761251191
NM_020631.6(PLEKHG5):c.1580C>T (p.Ala527Val)
NM_020631.6(PLEKHG5):c.1588C>T (p.Arg530Trp) rs1480269028
NM_020631.6(PLEKHG5):c.1588CGGCAG[3] (p.Gln533_Glu534insArgGln) rs2523150778
NM_020631.6(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del) rs1557739505
NM_020631.6(PLEKHG5):c.1630C>T (p.Arg544Cys) rs1046202834
NM_020631.6(PLEKHG5):c.1668C>G (p.Asp556Glu) rs1644534293
NM_020631.6(PLEKHG5):c.1669G>A (p.Glu557Lys) rs754429270
NM_020631.6(PLEKHG5):c.1678A>G (p.Lys560Glu) rs2523149258
NM_020631.6(PLEKHG5):c.1703T>C (p.Leu568Pro) rs759670081
NM_020631.6(PLEKHG5):c.1712C>G (p.Thr571Arg)
NM_020631.6(PLEKHG5):c.1747C>G (p.Arg583Gly) rs766560337
NM_020631.6(PLEKHG5):c.1748G>A (p.Arg583Gln) rs1553173791
NM_020631.6(PLEKHG5):c.1768A>G (p.Ser590Gly) rs1569849261
NM_020631.6(PLEKHG5):c.1774A>G (p.Arg592Gly)
NM_020631.6(PLEKHG5):c.1801A>G (p.Met601Val) rs1156760922
NM_020631.6(PLEKHG5):c.1804G>A (p.Asp602Asn) rs1557738049
NM_020631.6(PLEKHG5):c.1826C>A (p.Thr609Lys) rs553151077
NM_020631.6(PLEKHG5):c.1840G>C (p.Val614Leu) rs752514480
NM_020631.6(PLEKHG5):c.1840G>T (p.Val614Leu) rs752514480
NM_020631.6(PLEKHG5):c.1844C>A (p.Thr615Asn) rs2523137913
NM_020631.6(PLEKHG5):c.1857G>C (p.Lys619Asn)
NM_020631.6(PLEKHG5):c.1868G>C (p.Arg623Thr) rs759538158
NM_020631.6(PLEKHG5):c.1888C>A (p.Pro630Thr) rs2523137376
NM_020631.6(PLEKHG5):c.1894C>T (p.Leu632Phe) rs762146718
NM_020631.6(PLEKHG5):c.1904A>G (p.Lys635Arg) rs2523137149
NM_020631.6(PLEKHG5):c.1940T>C (p.Phe647Ser) rs63750315
NM_020631.6(PLEKHG5):c.1955T>C (p.Leu652Pro) rs1644500916
NM_020631.6(PLEKHG5):c.1966C>T (p.His656Tyr) rs1644500686
NM_020631.6(PLEKHG5):c.1979G>A (p.Gly660Glu) rs1460646554
NM_020631.6(PLEKHG5):c.1987A>G (p.Thr663Ala) rs1212737816
NM_020631.6(PLEKHG5):c.1999A>G (p.Ser667Gly) rs760089855
NM_020631.6(PLEKHG5):c.2001_2002inv (p.Gly668Ser)
NM_020631.6(PLEKHG5):c.2048A>G (p.Gln683Arg) rs1381617999
NM_020631.6(PLEKHG5):c.2057T>C (p.Leu686Pro)
NM_020631.6(PLEKHG5):c.2060A>T (p.Gln687Leu) rs1046289350
NM_020631.6(PLEKHG5):c.2068C>A (p.Arg690Ser) rs149089640
NM_020631.6(PLEKHG5):c.2068C>T (p.Arg690Cys) rs149089640
NM_020631.6(PLEKHG5):c.206C>T (p.Thr69Met) rs781143182
NM_020631.6(PLEKHG5):c.2080C>G (p.Pro694Ala) rs2148578650
NM_020631.6(PLEKHG5):c.2113G>A (p.Glu705Lys) rs942417681
NM_020631.6(PLEKHG5):c.2118GGA[2] (p.Glu708del) rs759263875
NM_020631.6(PLEKHG5):c.2118GGA[4] (p.Glu708_Asp709insGlu) rs759263875
NM_020631.6(PLEKHG5):c.2127_2162dup (p.Glu720_Glu721insAspGluGlnGluGluGluGluGluGluGluGluGlu) rs1553173380
NM_020631.6(PLEKHG5):c.2132A>G (p.Gln711Arg) rs886046500
NM_020631.6(PLEKHG5):c.2142_2153dup (p.Glu723_Gly724insGluGluGluGlu) rs1553173393
NM_020631.6(PLEKHG5):c.2142_2156del (p.Glu719_Glu723del) rs760699878
NM_020631.6(PLEKHG5):c.2145GGA[10] (p.Glu723_Gly724insGluGlu) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[2] (p.Glu718_Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu) rs113541584
NM_020631.6(PLEKHG5):c.2151G>C (p.Glu717Asp) rs761945225
NM_020631.6(PLEKHG5):c.2156_2157insAGA (p.Glu723_Gly724insGlu) rs1553173388
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
NM_020631.6(PLEKHG5):c.2160_2163delinsA (p.Glu723del) rs386628081
NM_020631.6(PLEKHG5):c.2161G>A (p.Glu721Lys) rs1020150780
NM_020631.6(PLEKHG5):c.2163G>T (p.Glu721Asp) rs62639695
NM_020631.6(PLEKHG5):c.2165_2170dup (p.Glu723_Gly724insGluGlu) rs960528373
NM_020631.6(PLEKHG5):c.2166_2167insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG (p.Glu722_Glu723insGlnGluGluGluGluGluGluGluGluGluGluGlu) rs2523129553
NM_020631.6(PLEKHG5):c.2180G>T (p.Ser727Ile) rs770641755
NM_020631.6(PLEKHG5):c.2227G>C (p.Gly743Arg) rs145073653
NM_020631.6(PLEKHG5):c.2227G>T (p.Gly743Cys)
NM_020631.6(PLEKHG5):c.2233C>A (p.Pro745Thr) rs756501907
NM_020631.6(PLEKHG5):c.2236G>A (p.Asp746Asn) rs768108924
NM_020631.6(PLEKHG5):c.2244G>C (p.Gln748His) rs1569839599
NM_020631.6(PLEKHG5):c.2279C>T (p.Ala760Val) rs1569836518
NM_020631.6(PLEKHG5):c.2293G>C (p.Glu765Gln) rs532817130
NM_020631.6(PLEKHG5):c.2312C>A (p.Ser771Tyr) rs1644465940
NM_020631.6(PLEKHG5):c.2332G>T (p.Gly778Cys) rs768087057
NM_020631.6(PLEKHG5):c.2344T>C (p.Ser782Pro)
NM_020631.6(PLEKHG5):c.2372C>A (p.Thr791Asn) rs2523118522
NM_020631.6(PLEKHG5):c.2374_2376del (p.Thr792del) rs2523118408
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs) rs753593088
NM_020631.6(PLEKHG5):c.2381C>T (p.Ser794Leu) rs2148576538
NM_020631.6(PLEKHG5):c.2410C>T (p.Pro804Ser) rs886046499
NM_020631.6(PLEKHG5):c.2428G>T (p.Gly810Cys) rs76625876
NM_020631.6(PLEKHG5):c.2438G>T (p.Cys813Phe)
NM_020631.6(PLEKHG5):c.244G>A (p.Asp82Asn) rs2523220026
NM_020631.6(PLEKHG5):c.2453C>T (p.Ala818Val) rs1644460806
NM_020631.6(PLEKHG5):c.2458G>A (p.Gly820Ser) rs202191898
NM_020631.6(PLEKHG5):c.2458G>C (p.Gly820Arg) rs202191898
NM_020631.6(PLEKHG5):c.2464C>A (p.Leu822Ile) rs2523116240
NM_020631.6(PLEKHG5):c.2489T>C (p.Phe830Ser) rs764007395
NM_020631.6(PLEKHG5):c.2513A>G (p.Glu838Gly) rs1287801386
NM_020631.6(PLEKHG5):c.2537C>A (p.Ser846Tyr) rs1180411078
NM_020631.6(PLEKHG5):c.2539C>T (p.Pro847Ser) rs1390984037
NM_020631.6(PLEKHG5):c.2569C>A (p.Arg857Ser)
NM_020631.6(PLEKHG5):c.2612C>T (p.Pro871Leu) rs886046498
NM_020631.6(PLEKHG5):c.2620C>G (p.Leu874Val) rs1644452898
NM_020631.6(PLEKHG5):c.2635G>A (p.Glu879Lys)
NM_020631.6(PLEKHG5):c.265A>G (p.Thr89Ala) rs981552118
NM_020631.6(PLEKHG5):c.2664G>T (p.Gly888=) rs1569832075
NM_020631.6(PLEKHG5):c.2672C>T (p.Thr891Ile) rs2148575479
NM_020631.6(PLEKHG5):c.2683C>G (p.Pro895Ala) rs753662166
NM_020631.6(PLEKHG5):c.2684C>G (p.Pro895Arg) rs1334141631
NM_020631.6(PLEKHG5):c.2699G>A (p.Arg900His)
NM_020631.6(PLEKHG5):c.269A>G (p.Glu90Gly) rs1247695536
NM_020631.6(PLEKHG5):c.273C>G (p.Ile91Met) rs761912795
NM_020631.6(PLEKHG5):c.2744G>A (p.Arg915Lys) rs1644446616
NM_020631.6(PLEKHG5):c.2749C>G (p.Gln917Glu) rs910647086
NM_020631.6(PLEKHG5):c.2751G>C (p.Gln917His) rs370666430
NM_020631.6(PLEKHG5):c.2759_2761del (p.Pro920del) rs536097668
NM_020631.6(PLEKHG5):c.2789G>T (p.Arg930Leu) rs376237905
NM_020631.6(PLEKHG5):c.2791G>C (p.Gly931Arg) rs1644443857
NM_020631.6(PLEKHG5):c.2802C>T (p.Ser934=) rs886042289
NM_020631.6(PLEKHG5):c.2816C>G (p.Pro939Arg)
NM_020631.6(PLEKHG5):c.2827G>A (p.Gly943Ser) rs114619322
NM_020631.6(PLEKHG5):c.2848G>T (p.Ala950Ser) rs879254222
NM_020631.6(PLEKHG5):c.286AAG[2] (p.Lys98del) rs781153386
NM_020631.6(PLEKHG5):c.2879T>G (p.Leu960Arg) rs1320979244
NM_020631.6(PLEKHG5):c.2887G>T (p.Gly963Trp) rs780100460
NM_020631.6(PLEKHG5):c.2888G>A (p.Gly963Glu) rs2148574527
NM_020631.6(PLEKHG5):c.288G>C (p.Lys96Asn)
NM_020631.6(PLEKHG5):c.288G>T (p.Lys96Asn) rs575792064
NM_020631.6(PLEKHG5):c.2893_2915del (p.Ser965fs) rs1644436301
NM_020631.6(PLEKHG5):c.2894C>T (p.Ser965Phe) rs1337483830
NM_020631.6(PLEKHG5):c.2914C>T (p.Pro972Ser)
NM_020631.6(PLEKHG5):c.2915C>G (p.Pro972Arg) rs777368688
NM_020631.6(PLEKHG5):c.2915C>T (p.Pro972Leu) rs777368688
NM_020631.6(PLEKHG5):c.2918C>A (p.Pro973Gln) rs1644435870
NM_020631.6(PLEKHG5):c.292_293delinsTC (p.Lys98Ser)
NM_020631.6(PLEKHG5):c.2956G>A (p.Ala986Thr) rs2523102567
NM_020631.6(PLEKHG5):c.2972T>C (p.Ile991Thr) rs2523102216
NM_020631.6(PLEKHG5):c.2975G>A (p.Arg992Lys) rs750720112
NM_020631.6(PLEKHG5):c.2987T>C (p.Leu996Pro) rs2148574076
NM_020631.6(PLEKHG5):c.3008C>T (p.Ala1003Val) rs2523101214
NM_020631.6(PLEKHG5):c.3011+6T>C rs1569827097
NM_020631.6(PLEKHG5):c.3012-17_3012-6del rs774593947
NM_020631.6(PLEKHG5):c.3012-3T>C rs2523094682
NM_020631.6(PLEKHG5):c.302+6G>A rs1553175409
NM_020631.6(PLEKHG5):c.303-8G>A
NM_020631.6(PLEKHG5):c.307G>T (p.Val103Leu) rs141032388
NM_020631.6(PLEKHG5):c.314T>C (p.Leu105Pro) rs2523211230
NM_020631.6(PLEKHG5):c.335G>T (p.Gly112Val) rs2148591435
NM_020631.6(PLEKHG5):c.341C>T (p.Ala114Val) rs145395747
NM_020631.6(PLEKHG5):c.347G>T (p.Gly116Val) rs2523210930
NM_020631.6(PLEKHG5):c.352G>A (p.Val118Met) rs2523210890
NM_020631.6(PLEKHG5):c.367G>A (p.Asp123Asn) rs759645488
NM_020631.6(PLEKHG5):c.369C>A (p.Asp123Glu) rs2523210685
NM_020631.6(PLEKHG5):c.379A>G (p.Thr127Ala) rs2148591381
NM_020631.6(PLEKHG5):c.407A>G (p.Tyr136Cys) rs986133840
NM_020631.6(PLEKHG5):c.412T>C (p.Phe138Leu) rs1302453044
NM_020631.6(PLEKHG5):c.415G>A (p.Gly139Arg) rs769529781
NM_020631.6(PLEKHG5):c.415G>C (p.Gly139Arg) rs769529781
NM_020631.6(PLEKHG5):c.431G>A (p.Arg144His) rs150152888
NM_020631.6(PLEKHG5):c.431G>T (p.Arg144Leu) rs150152888
NM_020631.6(PLEKHG5):c.440-11C>G
NM_020631.6(PLEKHG5):c.454G>A (p.Gly152Arg) rs2523204473
NM_020631.6(PLEKHG5):c.473A>G (p.Glu158Gly) rs1644685629
NM_020631.6(PLEKHG5):c.479G>A (p.Gly160Asp) rs758423963
NM_020631.6(PLEKHG5):c.489C>G (p.Asp163Glu) rs1644685045
NM_020631.6(PLEKHG5):c.495G>C (p.Lys165Asn) rs150772386
NM_020631.6(PLEKHG5):c.503G>C (p.Ser168Thr) rs1346810555
NM_020631.6(PLEKHG5):c.509C>A (p.Pro170Gln) rs59117380
NM_020631.6(PLEKHG5):c.517C>G (p.Arg173Gly) rs372602993
NM_020631.6(PLEKHG5):c.517C>T (p.Arg173Trp) rs372602993
NM_020631.6(PLEKHG5):c.521C>T (p.Pro174Leu) rs1374927816
NM_020631.6(PLEKHG5):c.535C>T (p.Pro179Ser) rs1644682762
NM_020631.6(PLEKHG5):c.541G>C (p.Ala181Pro) rs527341275
NM_020631.6(PLEKHG5):c.547G>A (p.Glu183Lys) rs886046502
NM_020631.6(PLEKHG5):c.559G>A (p.Ala187Thr) rs199503669
NM_020631.6(PLEKHG5):c.559G>T (p.Ala187Ser) rs199503669
NM_020631.6(PLEKHG5):c.55G>A (p.Ala19Thr) rs770387842
NM_020631.6(PLEKHG5):c.55G>C (p.Ala19Pro) rs770387842
NM_020631.6(PLEKHG5):c.560C>T (p.Ala187Val) rs2523202921
NM_020631.6(PLEKHG5):c.567CCG[1] (p.Arg191del) rs1380854015
NM_020631.6(PLEKHG5):c.569G>A (p.Arg190His) rs770010475
NM_020631.6(PLEKHG5):c.572G>A (p.Arg191Gln) rs541234129
NM_020631.6(PLEKHG5):c.586A>G (p.Ile196Val) rs1159602956
NM_020631.6(PLEKHG5):c.587T>C (p.Ile196Thr) rs1451313768
NM_020631.6(PLEKHG5):c.592G>A (p.Ala198Thr)
NM_020631.6(PLEKHG5):c.601CGC[4] (p.Arg203_Lys204insArg) rs1273891514
NM_020631.6(PLEKHG5):c.602G>A (p.Arg201His)
NM_020631.6(PLEKHG5):c.605G>A (p.Arg202His) rs543013239
NM_020631.6(PLEKHG5):c.605G>T (p.Arg202Leu)
NM_020631.6(PLEKHG5):c.615C>G (p.Asn205Lys) rs2148589091
NM_020631.6(PLEKHG5):c.618G>T (p.Met206Ile) rs1644658818
NM_020631.6(PLEKHG5):c.633G>T (p.Gly211=) rs1365704916
NM_020631.6(PLEKHG5):c.64G>T (p.Val22Leu) rs112530241
NM_020631.6(PLEKHG5):c.658C>T (p.Pro220Ser)
NM_020631.6(PLEKHG5):c.659C>A (p.Pro220His)
NM_020631.6(PLEKHG5):c.665C>A (p.Thr222Lys) rs373678202
NM_020631.6(PLEKHG5):c.739G>C (p.Ala247Pro) rs772232182
NM_020631.6(PLEKHG5):c.740C>T (p.Ala247Val) rs1365811372
NM_020631.6(PLEKHG5):c.745C>T (p.Arg249Cys) rs1436222408
NM_020631.6(PLEKHG5):c.748T>C (p.Phe250Leu) rs2523193434
NM_020631.6(PLEKHG5):c.74G>C (p.Arg25Pro) rs1201574261
NM_020631.6(PLEKHG5):c.757T>C (p.Phe253Leu) rs2523193315
NM_020631.6(PLEKHG5):c.784G>A (p.Ala262Thr) rs550362834
NM_020631.6(PLEKHG5):c.794G>C (p.Arg265Pro)
NM_020631.6(PLEKHG5):c.796-9T>G rs776663985
NM_020631.6(PLEKHG5):c.800T>C (p.Val267Ala) rs1644647200
NM_020631.6(PLEKHG5):c.804C>G (p.Asp268Glu)
NM_020631.6(PLEKHG5):c.806A>T (p.Lys269Met) rs886046501
NM_020631.6(PLEKHG5):c.80G>A (p.Cys27Tyr) rs1569889912
NM_020631.6(PLEKHG5):c.826A>C (p.Lys276Gln) rs1644646685
NM_020631.6(PLEKHG5):c.832C>T (p.His278Tyr)
NM_020631.6(PLEKHG5):c.845T>A (p.Leu282His) rs2148588292
NM_020631.6(PLEKHG5):c.850G>C (p.Gly284Arg) rs569434019
NM_020631.6(PLEKHG5):c.883G>C (p.Asp295His) rs778729674
NM_020631.6(PLEKHG5):c.889G>A (p.Asp297Asn) rs1644643276
NM_020631.6(PLEKHG5):c.893C>T (p.Ser298Phe) rs1181354692
NM_020631.6(PLEKHG5):c.89G>A (p.Arg30His) rs199745947
NM_020631.6(PLEKHG5):c.903_923del (p.Glu301_Glu307del) rs1465693103
NM_020631.6(PLEKHG5):c.909_911del (p.Asp304del) rs2148588099
NM_020631.6(PLEKHG5):c.912_914del (p.Asp304del) rs1557744230
NM_020631.6(PLEKHG5):c.915_923del (p.Glu305_Glu307del) rs1557744136
NM_020631.6(PLEKHG5):c.919G>C (p.Glu307Gln) rs148745591
NM_020631.6(PLEKHG5):c.91A>G (p.Thr31Ala) rs1644755304
NM_020631.6(PLEKHG5):c.92C>G (p.Thr31Ser) rs763739771
NM_020631.6(PLEKHG5):c.935C>A (p.Ala312Asp) rs2523189261
NM_020631.6(PLEKHG5):c.938G>A (p.Cys313Tyr) rs1161214345
NM_020631.6(PLEKHG5):c.951G>C (p.Glu317Asp) rs767511293
NM_020631.6(PLEKHG5):c.967C>A (p.Leu323Ile) rs1275790736
NM_020631.6(PLEKHG5):c.984+3G>A rs1282919159
NM_020631.6(PLEKHG5):c.985-6C>G rs1371350296
NM_020631.6(PLEKHG5):c.997C>A (p.Arg333=) rs148232621
NM_020631.6(PLEKHG5):c.997C>T (p.Arg333Trp) rs148232621
NM_198681.4(PLEKHG5):c.-120C>T rs201669114

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