ClinVar Miner

List of variants in gene PLEKHG5 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 297
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HGVS dbSNP gnomAD frequency
NM_198681.4(PLEKHG5):c.-267G>A rs1556035 0.77574
NM_020631.4(PLEKHG5):c.-28234G>A rs1010584 0.76606
NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser) rs61741379 0.28900
NM_020631.4(PLEKHG5):c.-5400T>G rs3007430 0.27661
NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=) rs730600 0.27319
NM_020631.6(PLEKHG5):c.*290T>C rs14708 0.27269
NM_020631.6(PLEKHG5):c.-88+6307T>A rs75490131 0.25753
NM_020631.6(PLEKHG5):c.-88+5858G>A rs6693457 0.25085
NM_020631.6(PLEKHG5):c.-88+5G>A rs3007429 0.22575
NM_020631.6(PLEKHG5):c.3012-113G>A rs9435269 0.20413
NM_020631.4(PLEKHG5):c.*990C>T rs3007418 0.19422
NM_020631.6(PLEKHG5):c.1681-20T>C rs2986753 0.18735
NM_020631.6(PLEKHG5):c.1800+107C>T rs3007421 0.18161
NM_020631.6(PLEKHG5):c.-88+1192G>A rs11806429 0.15681
NM_020631.4(PLEKHG5):c.-28044C>G rs41278014 0.15281
NM_020631.6(PLEKHG5):c.302+59T>C rs77777178 0.14105
NM_020631.6(PLEKHG5):c.303-134C>T rs2986751 0.13544
NM_020631.6(PLEKHG5):c.1801-12C>A rs943584 0.11198
NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=) rs62639695 0.10172
NM_020631.4(PLEKHG5):c.*1304G>A rs45604837 0.09117
NM_020631.6(PLEKHG5):c.-88+5868C>G rs145141925 0.08529
NM_020631.6(PLEKHG5):c.302+176T>C rs112653986 0.08278
NM_020631.6(PLEKHG5):c.1801-87C>G rs3007420 0.07044
NM_020631.6(PLEKHG5):c.1801-71G>A rs77492523 0.07026
NM_020631.6(PLEKHG5):c.591+71G>A rs74049586 0.06730
NM_020631.6(PLEKHG5):c.591+52G>A rs58549010 0.06723
NM_020631.6(PLEKHG5):c.1240G>A (p.Ala414Thr) rs74809741 0.06203
NM_020631.4(PLEKHG5):c.-5995G>A rs112475272 0.06110
NM_020631.6(PLEKHG5):c.1318A>G (p.Met440Val) rs61740145 0.06002
NM_020631.6(PLEKHG5):c.2307G>A (p.Thr769=) rs3138150 0.05741
NM_020631.6(PLEKHG5):c.2428G>A (p.Gly810Ser) rs76625876 0.05582
NM_020631.6(PLEKHG5):c.1179G>A (p.Leu393=) rs112471131 0.05506
NM_020631.4(PLEKHG5):c.-6014G>C rs147932947 0.05130
NM_020631.6(PLEKHG5):c.1081-98G>A rs75682285 0.04748
NM_020631.6(PLEKHG5):c.-88+5779C>G rs116507160 0.03644
NM_020631.6(PLEKHG5):c.-88+6634G>T rs3007424 0.03349
NM_020631.6(PLEKHG5):c.211-44C>T rs113224596 0.03153
NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997 0.02621
NM_020631.6(PLEKHG5):c.592-51G>A rs74049585 0.02563
NM_020631.6(PLEKHG5):c.591+69C>G rs74049587 0.02548
NM_020631.6(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322 0.02505
NM_020631.6(PLEKHG5):c.-88+6188G>A rs577217925 0.02161
NM_198681.4(PLEKHG5):c.-164-664C>T rs181025240 0.02133
NM_020631.6(PLEKHG5):c.1080+270T>C rs114359340 0.01814
NM_020631.6(PLEKHG5):c.3012-79C>T rs78137382 0.01697
NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419 0.01628
NM_020631.6(PLEKHG5):c.1282-193C>T rs150855955 0.01624
NM_020631.6(PLEKHG5):c.1282-111T>C rs186051032 0.01611
NM_020631.6(PLEKHG5):c.592-185C>T rs114346708 0.01433
NM_020631.6(PLEKHG5):c.211-76A>G rs548502409 0.01286
NM_020631.4(PLEKHG5):c.-5220C>G rs145275535 0.01284
NM_020631.6(PLEKHG5):c.795+8G>A rs114275646 0.01154
NM_020631.5(PLEKHG5):c.*843G>T rs12735472 0.01132
NM_020631.6(PLEKHG5):c.302+144G>A rs141393320 0.01007
NM_020631.6(PLEKHG5):c.2331C>T (p.Ser777=) rs61749272 0.00952
NM_020631.6(PLEKHG5):c.-88+6354A>C rs534856650 0.00884
NM_020631.6(PLEKHG5):c.*108G>A rs11800788 0.00786
NM_020631.6(PLEKHG5):c.-88+6000C>T rs6683862 0.00714
NM_198681.4(PLEKHG5):c.-164-1030C>T rs557475856 0.00672
NM_020631.4(PLEKHG5):c.-5851T>C rs549207658 0.00576
NM_020631.6(PLEKHG5):c.*27T>C rs117494970 0.00566
NM_020631.6(PLEKHG5):c.592-75C>A rs140246821 0.00548
NM_020631.6(PLEKHG5):c.210+79A>T rs58196009 0.00524
NM_020631.6(PLEKHG5):c.-88+6328C>T rs147378306 0.00522
NM_020631.6(PLEKHG5):c.1801-113A>C rs138957573 0.00470
NM_020631.6(PLEKHG5):c.2249+49T>C rs138018808 0.00469
NM_020631.6(PLEKHG5):c.2250-88T>C rs114215729 0.00468
NM_020631.6(PLEKHG5):c.591+185C>G rs142544613 0.00465
NM_020631.6(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455 0.00463
NM_020631.6(PLEKHG5):c.44-300C>T rs139002984 0.00459
NM_020631.6(PLEKHG5):c.1392+40G>C rs181693536 0.00450
NM_020631.6(PLEKHG5):c.2581C>T (p.Arg861Cys) rs148560273 0.00443
NM_020631.6(PLEKHG5):c.440-6A>G rs202049535 0.00443
NM_020631.6(PLEKHG5):c.1543-21A>G rs201482043 0.00416
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931 0.00411
NM_020631.6(PLEKHG5):c.1281+96C>A rs568519107 0.00385
NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982 0.00334
NM_020631.6(PLEKHG5):c.592-64G>A rs192811593 0.00334
NM_020631.6(PLEKHG5):c.1080+131G>A rs75624694 0.00296
NM_020631.6(PLEKHG5):c.302+35C>T rs79632236 0.00291
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494 0.00274
NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399 0.00247
NM_020631.6(PLEKHG5):c.532G>A (p.Gly178Arg) rs143484278 0.00233
NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met) rs141032388 0.00209
NM_020631.6(PLEKHG5):c.495G>A (p.Lys165=) rs150772386 0.00183
NM_020631.6(PLEKHG5):c.64G>A (p.Val22Met) rs112530241 0.00171
NM_020631.6(PLEKHG5):c.1896C>T (p.Leu632=) rs61732221 0.00158
NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400 0.00156
NM_020631.6(PLEKHG5):c.1019C>T (p.Ala340Val) rs72861528 0.00138
NM_020631.6(PLEKHG5):c.509C>T (p.Pro170Leu) rs59117380 0.00137
NM_020631.6(PLEKHG5):c.260T>C (p.Ile87Thr) rs117505788 0.00136
NM_020631.6(PLEKHG5):c.1818C>T (p.Phe606=) rs149147021 0.00109
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670 0.00108
NM_020631.6(PLEKHG5):c.87G>A (p.Pro29=) rs140892576 0.00107
NM_020631.6(PLEKHG5):c.-88+6287G>A rs554689677 0.00099
NM_020631.6(PLEKHG5):c.2677G>A (p.Gly893Arg) rs200407689 0.00091
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=) rs111624565 0.00091
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 0.00034
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.440-2A>G rs144750655 0.00026
NM_020631.6(PLEKHG5):c.620C>T (p.Ser207Leu) rs572530276 0.00026
NM_020631.6(PLEKHG5):c.2070T>C (p.Arg690=) rs141100808 0.00024
NM_198681.4(PLEKHG5):c.-99C>T rs373594469 0.00023
NM_020631.6(PLEKHG5):c.482T>C (p.Met161Thr) rs140817021 0.00021
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.639G>A (p.Ala213=) rs560366406 0.00018
NM_020631.6(PLEKHG5):c.2634C>T (p.Ser878=) rs367560509 0.00017
NM_020631.6(PLEKHG5):c.783C>T (p.Ser261=) rs61738905 0.00016
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.2746A>C (p.Thr916Pro) rs187886272 0.00014
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.2610G>A (p.Pro870=) rs373880458 0.00012
NM_020631.6(PLEKHG5):c.971T>C (p.Ile324Thr) rs746862312 0.00012
NM_020631.6(PLEKHG5):c.2164G>A (p.Glu722Lys) rs201551894 0.00011
NM_020631.6(PLEKHG5):c.2212A>G (p.Met738Val) rs778686532 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_020631.6(PLEKHG5):c.1393-10C>A rs768925221 0.00009
NM_020631.6(PLEKHG5):c.2390C>T (p.Thr797Met) rs111724922 0.00009
NM_020631.6(PLEKHG5):c.518G>A (p.Arg173Gln) rs142378760 0.00009
NM_020631.6(PLEKHG5):c.186G>A (p.Lys62=) rs372405586 0.00008
NM_020631.6(PLEKHG5):c.2543G>A (p.Arg848Gln) rs761000380 0.00008
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.541G>A (p.Ala181Thr) rs527341275 0.00007
NM_020631.6(PLEKHG5):c.718G>A (p.Asp240Asn) rs765882140 0.00007
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.2421G>A (p.Pro807=) rs767407997 0.00006
NM_020631.6(PLEKHG5):c.2542C>T (p.Arg848Ter) rs770593694 0.00006
NM_020631.6(PLEKHG5):c.274G>A (p.Val92Ile) rs371516662 0.00006
NM_020631.6(PLEKHG5):c.1507G>C (p.Glu503Gln) rs868161574 0.00005
NM_020631.6(PLEKHG5):c.2361C>T (p.Thr787=) rs201054338 0.00005
NM_020631.6(PLEKHG5):c.2569C>T (p.Arg857Cys) rs193245630 0.00005
NM_020631.6(PLEKHG5):c.638C>T (p.Ala213Val) rs367543633 0.00005
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.2226C>T (p.Ser742=) rs370761668 0.00004
NM_020631.6(PLEKHG5):c.2485G>T (p.Asp829Tyr) rs200162521 0.00004
NM_020631.6(PLEKHG5):c.2720T>C (p.Leu907Pro) rs764378556 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.84G>A (p.Pro28=) rs140428005 0.00004
NM_020631.6(PLEKHG5):c.909C>T (p.Tyr303=) rs376900021 0.00004
NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter) rs772217003 0.00003
NM_020631.6(PLEKHG5):c.2131C>G (p.Gln711Glu) rs761272621 0.00003
NM_020631.6(PLEKHG5):c.2691C>T (p.Ala897=) rs755539639 0.00003
NM_020631.6(PLEKHG5):c.302+10G>T rs201663755 0.00003
NM_020631.6(PLEKHG5):c.395C>T (p.Thr132Ile) rs761640668 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.813G>A (p.Glu271=) rs777414805 0.00003
NM_020631.6(PLEKHG5):c.*12C>T rs771326239 0.00002
NM_020631.6(PLEKHG5):c.1280T>C (p.Met427Thr) rs754678569 0.00002
NM_020631.6(PLEKHG5):c.1293C>T (p.Leu431=) rs758869678 0.00002
NM_020631.6(PLEKHG5):c.1621G>A (p.Val541Met) rs376903637 0.00002
NM_020631.6(PLEKHG5):c.1988C>T (p.Thr663Met) rs397515456 0.00002
NM_020631.6(PLEKHG5):c.2124G>A (p.Glu708=) rs370521517 0.00002
NM_020631.6(PLEKHG5):c.2274C>G (p.Thr758=) rs147386989 0.00002
NM_020631.6(PLEKHG5):c.2281A>G (p.Met761Val) rs201647966 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.2579G>A (p.Arg860His) rs765235144 0.00002
NM_020631.6(PLEKHG5):c.2609C>T (p.Pro870Leu) rs772693344 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.440-10C>T rs201656051 0.00002
NM_020631.6(PLEKHG5):c.82C>T (p.Pro28Ser) rs373539850 0.00002
NM_020631.6(PLEKHG5):c.865C>T (p.Pro289Ser) rs373198302 0.00002
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.1020G>A (p.Ala340=) rs562623276 0.00001
NM_020631.6(PLEKHG5):c.1038C>G (p.His346Gln) rs1553174547 0.00001
NM_020631.6(PLEKHG5):c.1080+8G>C rs1553174495 0.00001
NM_020631.6(PLEKHG5):c.1082T>G (p.Leu361Arg) rs762368406 0.00001
NM_020631.6(PLEKHG5):c.1142A>G (p.Glu381Gly) rs1327802744 0.00001
NM_020631.6(PLEKHG5):c.1371C>T (p.Asp457=) rs776561735 0.00001
NM_020631.6(PLEKHG5):c.1392G>A (p.Thr464=) rs1412619450 0.00001
NM_020631.6(PLEKHG5):c.1430T>A (p.Leu477Gln) rs1469963388 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.1524G>A (p.Lys508=) rs777894074 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.1596G>A (p.Arg532=) rs777519794 0.00001
NM_020631.6(PLEKHG5):c.1741G>A (p.Glu581Lys) rs267598690 0.00001
NM_020631.6(PLEKHG5):c.1874G>A (p.Arg625Lys) rs765998625 0.00001
NM_020631.6(PLEKHG5):c.2235C>T (p.Pro745=) rs1323858843 0.00001
NM_020631.6(PLEKHG5):c.2249+4C>T rs751575330 0.00001
NM_020631.6(PLEKHG5):c.2306C>T (p.Thr769Met) rs1000775772 0.00001
NM_020631.6(PLEKHG5):c.2316C>T (p.Ser772=) rs1342219532 0.00001
NM_020631.6(PLEKHG5):c.2438G>A (p.Cys813Tyr) rs771230935 0.00001
NM_020631.6(PLEKHG5):c.2564C>T (p.Ser855Leu) rs768995193 0.00001
NM_020631.6(PLEKHG5):c.2737G>C (p.Gly913Arg) rs1407992685 0.00001
NM_020631.6(PLEKHG5):c.2826C>T (p.Val942=) rs749891873 0.00001
NM_020631.6(PLEKHG5):c.2969G>A (p.Arg990Gln) rs762876171 0.00001
NM_020631.6(PLEKHG5):c.510G>A (p.Pro170=) rs773624292 0.00001
NM_020631.6(PLEKHG5):c.527G>C (p.Gly176Ala) rs531190324 0.00001
NM_020631.6(PLEKHG5):c.551G>A (p.Arg184His) rs750080171 0.00001
NM_020631.6(PLEKHG5):c.608G>A (p.Arg203His) rs939508255 0.00001
NM_020631.6(PLEKHG5):c.655G>A (p.Glu219Lys) rs774845320 0.00001
NM_020631.6(PLEKHG5):c.850G>A (p.Gly284Arg) rs569434019 0.00001
NM_020631.6(PLEKHG5):c.86C>T (p.Pro29Leu) rs998963899 0.00001
NM_020631.6(PLEKHG5):c.877C>T (p.Arg293Cys) rs374645103 0.00001
NM_020631.6(PLEKHG5):c.913G>A (p.Glu305Lys) rs750943470 0.00001
NM_020631.4(PLEKHG5):c.*1158G>C rs2986754
NM_020631.5(PLEKHG5):c.*697C>T rs3176900
NM_020631.6(PLEKHG5):c.-88+1153_-88+1160del rs141955211
NM_020631.6(PLEKHG5):c.-88+5658_-88+5659dup rs372606355
NM_020631.6(PLEKHG5):c.-88+5659del rs372606355
NM_020631.6(PLEKHG5):c.-88+5659dup rs372606355
NM_020631.6(PLEKHG5):c.-88+6208C>T
NM_020631.6(PLEKHG5):c.1004G>T (p.Cys335Phe) rs1569865500
NM_020631.6(PLEKHG5):c.1080+1G>A rs1553174500
NM_020631.6(PLEKHG5):c.1102A>T (p.Asn368Tyr) rs921634361
NM_020631.6(PLEKHG5):c.1117G>A (p.Gly373Arg)
NM_020631.6(PLEKHG5):c.112GAG[7] (p.Glu43_Ser44insGlu)
NM_020631.6(PLEKHG5):c.1211C>G (p.Pro404Arg) rs1173364500
NM_020631.6(PLEKHG5):c.1230G>C (p.Arg410=)
NM_020631.6(PLEKHG5):c.1292T>G (p.Leu431Arg) rs746661057
NM_020631.6(PLEKHG5):c.1392+5G>A rs2148583512
NM_020631.6(PLEKHG5):c.1393-22dup rs111312565
NM_020631.6(PLEKHG5):c.1495C>G (p.Leu499Val) rs1064796900
NM_020631.6(PLEKHG5):c.1528G>A (p.Ala510Thr) rs1475922783
NM_020631.6(PLEKHG5):c.1542+28C>A rs75081587
NM_020631.6(PLEKHG5):c.1559G>T (p.Arg520Leu) rs1464358180
NM_020631.6(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del) rs1557739505
NM_020631.6(PLEKHG5):c.1681-27_1681-3dup rs748372368
NM_020631.6(PLEKHG5):c.1710G>A (p.Leu570=) rs1644528365
NM_020631.6(PLEKHG5):c.1738G>T (p.Glu580Ter) rs760122001
NM_020631.6(PLEKHG5):c.1748G>A (p.Arg583Gln) rs1553173791
NM_020631.6(PLEKHG5):c.1826C>A (p.Thr609Lys) rs553151077
NM_020631.6(PLEKHG5):c.1840G>T (p.Val614Leu)
NM_020631.6(PLEKHG5):c.1843del (p.Thr615fs) rs1569845887
NM_020631.6(PLEKHG5):c.1987A>G (p.Thr663Ala) rs1212737816
NM_020631.6(PLEKHG5):c.2048A>G (p.Gln683Arg) rs1381617999
NM_020631.6(PLEKHG5):c.2065C>T (p.Leu689=)
NM_020631.6(PLEKHG5):c.2068C>A (p.Arg690Ser)
NM_020631.6(PLEKHG5):c.2084C>T (p.Pro695Leu)
NM_020631.6(PLEKHG5):c.211-93_211-57del rs1447640740
NM_020631.6(PLEKHG5):c.2118GGA[4] (p.Glu708_Asp709insGlu)
NM_020631.6(PLEKHG5):c.2127_2162dup (p.Glu720_Glu721insAspGluGlnGluGluGluGluGluGluGluGluGlu) rs1553173380
NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu) rs113541584
NM_020631.6(PLEKHG5):c.214C>A (p.Pro72Thr) rs886044171
NM_020631.6(PLEKHG5):c.2157G>A (p.Glu719=) rs2148578302
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
NM_020631.6(PLEKHG5):c.2160_2161del (p.Glu721fs)
NM_020631.6(PLEKHG5):c.2160_2163delinsA (p.Glu723del) rs386628081
NM_020631.6(PLEKHG5):c.2164del (p.Glu722fs) rs201182604
NM_020631.6(PLEKHG5):c.2210T>G (p.Ile737Ser)
NM_020631.6(PLEKHG5):c.2293G>C (p.Glu765Gln) rs532817130
NM_020631.6(PLEKHG5):c.2319C>T (p.Pro773=) rs80031446
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs) rs753593088
NM_020631.6(PLEKHG5):c.2458G>A (p.Gly820Ser) rs202191898
NM_020631.6(PLEKHG5):c.2574C>T (p.Leu858=)
NM_020631.6(PLEKHG5):c.2635G>A (p.Glu879Lys)
NM_020631.6(PLEKHG5):c.2802C>T (p.Ser934=) rs886042289
NM_020631.6(PLEKHG5):c.2848G>T (p.Ala950Ser) rs879254222
NM_020631.6(PLEKHG5):c.288G>C (p.Lys96Asn)
NM_020631.6(PLEKHG5):c.288G>T (p.Lys96Asn) rs575792064
NM_020631.6(PLEKHG5):c.3011+60C>A rs45463998
NM_020631.6(PLEKHG5):c.302+141C>T rs80277106
NM_020631.6(PLEKHG5):c.335G>T (p.Gly112Val) rs2148591435
NM_020631.6(PLEKHG5):c.431G>T (p.Arg144Leu) rs150152888
NM_020631.6(PLEKHG5):c.440-11C>G
NM_020631.6(PLEKHG5):c.440-67G>A rs114755840
NM_020631.6(PLEKHG5):c.517C>T (p.Arg173Trp) rs372602993
NM_020631.6(PLEKHG5):c.540C>T (p.Pro180=) rs372624847
NM_020631.6(PLEKHG5):c.55G>C (p.Ala19Pro) rs770387842
NM_020631.6(PLEKHG5):c.583G>A (p.Asp195Asn)
NM_020631.6(PLEKHG5):c.58del (p.Arg20fs) rs1553175760
NM_020631.6(PLEKHG5):c.591+28G>C rs76386795
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.665C>A (p.Thr222Lys) rs373678202
NM_020631.6(PLEKHG5):c.796-9T>G rs776663985
NM_020631.6(PLEKHG5):c.897G>A (p.Trp299Ter)
NM_020631.6(PLEKHG5):c.912_914del (p.Asp304del) rs1557744230
NM_020631.6(PLEKHG5):c.915_923del (p.Glu305_Glu307del)
NM_020631.6(PLEKHG5):c.985-2A>G rs1553174566
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
NM_198681.4(PLEKHG5):c.-88+200G>A rs139450855

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