ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease recessive intermediate C by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1115
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HGVS dbSNP gnomAD frequency
NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser) rs61741379 0.28900
NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=) rs730600 0.27319
NM_020631.6(PLEKHG5):c.1681-20T>C rs2986753 0.18735
NM_020631.6(PLEKHG5):c.1801-12C>A rs943584 0.11198
NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=) rs62639695 0.10172
NM_020631.6(PLEKHG5):c.43+13G>A rs78593902 0.07001
NM_020631.6(PLEKHG5):c.1240G>A (p.Ala414Thr) rs74809741 0.06203
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_020631.6(PLEKHG5):c.1393-19C>T rs771920742 0.03659
NM_020631.6(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997 0.02621
NM_020631.6(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322 0.02505
NM_020631.6(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419 0.01628
NM_020631.6(PLEKHG5):c.795+8G>A rs114275646 0.01154
NM_020631.6(PLEKHG5):c.2331C>T (p.Ser777=) rs61749272 0.00952
NM_020631.6(PLEKHG5):c.30C>T (p.Asp10=) rs114209691 0.00830
NM_020631.6(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455 0.00463
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.1254C>G (p.Pro418=) rs139904931 0.00411
NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982 0.00334
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.592-14C>T rs554879611 0.00165
NM_020631.6(PLEKHG5):c.2162_2163insTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAG (p.Glu721fs) rs1456598112 0.00164
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.2677G>A (p.Gly893Arg) rs200407689 0.00091
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=) rs111624565 0.00091
NM_020631.6(PLEKHG5):c.3011+9C>T rs144809602 0.00054
NM_020631.6(PLEKHG5):c.1023G>A (p.Val341=) rs199903533 0.00050
NM_020631.6(PLEKHG5):c.1801-14del rs762416489 0.00046
NM_020631.6(PLEKHG5):c.1236G>A (p.Thr412=) rs376823275 0.00045
NM_020631.6(PLEKHG5):c.33T>C (p.Leu11=) rs144859183 0.00041
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.2424G>A (p.Val808=) rs151184761 0.00030
NM_020631.6(PLEKHG5):c.1530C>T (p.Ala510=) rs61734080 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.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_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324 0.00021
NM_020631.6(PLEKHG5):c.482T>C (p.Met161Thr) rs140817021 0.00021
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.1302C>T (p.Pro434=) rs755428930 0.00016
NM_020631.6(PLEKHG5):c.2614C>T (p.His872Tyr) rs372143370 0.00016
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.984+11G>A rs369478125 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.43+20G>T rs200779049 0.00013
NM_020631.6(PLEKHG5):c.2610G>A (p.Pro870=) rs373880458 0.00012
NM_020631.6(PLEKHG5):c.414C>T (p.Phe138=) rs375075005 0.00012
NM_020631.6(PLEKHG5):c.971T>C (p.Ile324Thr) rs746862312 0.00012
NM_020631.6(PLEKHG5):c.1497G>A (p.Leu499=) rs749662321 0.00011
NM_020631.6(PLEKHG5):c.2164G>A (p.Glu722Lys) rs201551894 0.00011
NM_020631.6(PLEKHG5):c.1182C>T (p.His394=) rs754889755 0.00010
NM_020631.6(PLEKHG5):c.2212A>G (p.Met738Val) rs778686532 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_020631.6(PLEKHG5):c.1393-10C>A rs768925221 0.00009
NM_020631.6(PLEKHG5):c.1934-16G>A rs201675267 0.00009
NM_020631.6(PLEKHG5):c.2215C>T (p.Arg739Trp) rs189468475 0.00009
NM_020631.6(PLEKHG5):c.2390C>T (p.Thr797Met) rs111724922 0.00009
NM_020631.6(PLEKHG5):c.2885C>T (p.Ser962Leu) rs369440409 0.00009
NM_020631.6(PLEKHG5):c.2967C>T (p.Tyr989=) rs773618556 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.186G>A (p.Lys62=) rs372405586 0.00008
NM_020631.6(PLEKHG5):c.2427C>T (p.Asp809=) rs369876443 0.00008
NM_020631.6(PLEKHG5):c.2543G>A (p.Arg848Gln) rs761000380 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.2598G>A (p.Leu866=) rs368328495 0.00007
NM_020631.6(PLEKHG5):c.439+12C>G rs778853521 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.1614G>T (p.Leu538=) rs754624083 0.00006
NM_020631.6(PLEKHG5):c.1680+19G>A rs367829100 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.568C>T (p.Arg190Cys) rs763551102 0.00006
NM_020631.6(PLEKHG5):c.665C>T (p.Thr222Met) rs373678202 0.00006
NM_020631.6(PLEKHG5):c.768C>T (p.Ser256=) rs780935962 0.00006
NM_020631.6(PLEKHG5):c.882C>T (p.Phe294=) rs370572859 0.00006
NM_020631.6(PLEKHG5):c.984+13C>G rs202154066 0.00006
NM_020631.6(PLEKHG5):c.984+7G>A rs111681677 0.00006
NM_020631.6(PLEKHG5):c.1455C>T (p.His485=) rs368630744 0.00005
NM_020631.6(PLEKHG5):c.1507G>C (p.Glu503Gln) rs868161574 0.00005
NM_020631.6(PLEKHG5):c.1617G>T (p.Ala539=) rs545959722 0.00005
NM_020631.6(PLEKHG5):c.2172C>T (p.Gly724=) rs759430357 0.00005
NM_020631.6(PLEKHG5):c.2326G>A (p.Asp776Asn) rs542531545 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.2864A>G (p.Lys955Arg) rs771066341 0.00005
NM_020631.6(PLEKHG5):c.638C>T (p.Ala213Val) rs367543633 0.00005
NM_020631.6(PLEKHG5):c.654G>C (p.Gln218His) rs909536143 0.00005
NM_020631.6(PLEKHG5):c.834C>T (p.His278=) rs368463952 0.00005
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.1383C>T (p.Ala461=) rs200957791 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.2034C>T (p.Thr678=) rs755808760 0.00004
NM_020631.6(PLEKHG5):c.2149G>A (p.Glu717Lys) rs184242303 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.2676T>C (p.His892=) rs758308121 0.00004
NM_020631.6(PLEKHG5):c.2720T>C (p.Leu907Pro) rs764378556 0.00004
NM_020631.6(PLEKHG5):c.430C>T (p.Arg144Cys) rs778272514 0.00004
NM_020631.6(PLEKHG5):c.531C>T (p.Thr177=) rs567059799 0.00004
NM_020631.6(PLEKHG5):c.558C>T (p.Asp186=) rs767157981 0.00004
NM_020631.6(PLEKHG5):c.571C>T (p.Arg191Trp) rs183712624 0.00004
NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=) rs556687525 0.00004
NM_020631.6(PLEKHG5):c.771C>G (p.Gly257=) rs200400689 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.84G>A (p.Pro28=) rs140428005 0.00004
NM_020631.6(PLEKHG5):c.909C>T (p.Tyr303=) rs376900021 0.00004
NM_020631.6(PLEKHG5):c.916G>A (p.Asp306Asn) rs781614887 0.00004
NM_020631.6(PLEKHG5):c.984+8C>T rs373560661 0.00004
NM_020631.6(PLEKHG5):c.1170C>G (p.Ile390Met) rs771928245 0.00003
NM_020631.6(PLEKHG5):c.1184G>A (p.Arg395His) rs779612506 0.00003
NM_020631.6(PLEKHG5):c.1345A>G (p.Met449Val) rs767686554 0.00003
NM_020631.6(PLEKHG5):c.161G>A (p.Ser54Asn) rs376703933 0.00003
NM_020631.6(PLEKHG5):c.1736C>T (p.Pro579Leu) rs757727499 0.00003
NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter) rs772217003 0.00003
NM_020631.6(PLEKHG5):c.210+16G>T rs751082247 0.00003
NM_020631.6(PLEKHG5):c.211-20C>T rs990630026 0.00003
NM_020631.6(PLEKHG5):c.2131C>G (p.Gln711Glu) rs761272621 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.395C>T (p.Thr132Ile) rs761640668 0.00003
NM_020631.6(PLEKHG5):c.399C>T (p.Phe133=) rs369888151 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.813G>A (p.Glu271=) rs777414805 0.00003
NM_020631.6(PLEKHG5):c.849C>T (p.Phe283=) rs750570012 0.00003
NM_020631.6(PLEKHG5):c.998G>A (p.Arg333Gln) rs759306471 0.00003
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.1356G>A (p.Leu452=) rs775124601 0.00002
NM_020631.6(PLEKHG5):c.1397C>T (p.Ala466Val) rs199839017 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.1731C>T (p.Ala577=) rs138441206 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.1988C>T (p.Thr663Met) rs397515456 0.00002
NM_020631.6(PLEKHG5):c.2017C>T (p.Arg673Cys) rs747057331 0.00002
NM_020631.6(PLEKHG5):c.2049+9A>G rs368743607 0.00002
NM_020631.6(PLEKHG5):c.2124G>A (p.Glu708=) rs370521517 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.2274C>G (p.Thr758=) rs147386989 0.00002
NM_020631.6(PLEKHG5):c.2391G>A (p.Thr797=) rs1330946628 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.2505A>T (p.Pro835=) rs201034547 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.2811C>T (p.Ser937=) rs1232546435 0.00002
NM_020631.6(PLEKHG5):c.2812G>A (p.Gly938Ser) rs573883242 0.00002
NM_020631.6(PLEKHG5):c.2838C>T (p.Ala946=) rs573561537 0.00002
NM_020631.6(PLEKHG5):c.2856C>T (p.Ser952=) rs759718802 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.2978C>A (p.Thr993Asn) rs769576836 0.00002
NM_020631.6(PLEKHG5):c.3012-12C>T rs752907238 0.00002
NM_020631.6(PLEKHG5):c.440-10C>T rs201656051 0.00002
NM_020631.6(PLEKHG5):c.440-11C>T rs747418024 0.00002
NM_020631.6(PLEKHG5):c.477G>A (p.Gln159=) rs373744190 0.00002
NM_020631.6(PLEKHG5):c.487G>A (p.Asp163Asn) rs886471004 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.865C>T (p.Pro289Ser) rs373198302 0.00002
NM_020631.6(PLEKHG5):c.895T>G (p.Trp299Gly) rs112657733 0.00002
NM_020631.6(PLEKHG5):c.903G>A (p.Glu301=) rs780277728 0.00002
NM_020631.6(PLEKHG5):c.99C>T (p.Pro33=) rs775878865 0.00002
NM_020631.6(PLEKHG5):c.1020G>A (p.Ala340=) rs562623276 0.00001
NM_020631.6(PLEKHG5):c.1041G>A (p.Thr347=) rs779051638 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.1068G>A (p.Arg356=) rs1272202008 0.00001
NM_020631.6(PLEKHG5):c.1081-19C>T rs1057524719 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.10G>A (p.Asp4Asn) rs372434052 0.00001
NM_020631.6(PLEKHG5):c.1131+5G>T rs1293986972 0.00001
NM_020631.6(PLEKHG5):c.1132-17C>T rs1424401681 0.00001
NM_020631.6(PLEKHG5):c.1132-8G>T rs1357497658 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.1152C>T (p.Phe384=) rs775687640 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.1227G>C (p.Ala409=) rs1004728643 0.00001
NM_020631.6(PLEKHG5):c.1230G>T (p.Arg410=) rs775775743 0.00001
NM_020631.6(PLEKHG5):c.1231C>T (p.Arg411Cys) rs1271841187 0.00001
NM_020631.6(PLEKHG5):c.1243C>T (p.Leu415=) rs771030645 0.00001
NM_020631.6(PLEKHG5):c.1264C>T (p.Leu422Phe) rs779799130 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.1289C>A (p.Ser430Ter) rs1443592761 0.00001
NM_020631.6(PLEKHG5):c.1295T>C (p.Phe432Ser) rs1384133118 0.00001
NM_020631.6(PLEKHG5):c.12T>C (p.Asp4=) rs772435791 0.00001
NM_020631.6(PLEKHG5):c.1360C>T (p.Arg454Cys) rs200086651 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.1410A>G (p.Pro470=) rs200406088 0.00001
NM_020631.6(PLEKHG5):c.1414T>G (p.Cys472Gly) rs1382976948 0.00001
NM_020631.6(PLEKHG5):c.1428G>A (p.Lys476=) rs1243221708 0.00001
NM_020631.6(PLEKHG5):c.1443G>A (p.Leu481=) rs1175716993 0.00001
NM_020631.6(PLEKHG5):c.1448A>G (p.Lys483Arg) rs1242593815 0.00001
NM_020631.6(PLEKHG5):c.1457_1482del (p.Gln486fs) rs1266507622 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.150-11C>A rs369136414 0.00001
NM_020631.6(PLEKHG5):c.150-13C>T rs373087396 0.00001
NM_020631.6(PLEKHG5):c.1506C>T (p.Thr502=) rs570632527 0.00001
NM_020631.6(PLEKHG5):c.1514C>T (p.Pro505Leu) rs770934745 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.1558C>T (p.Arg520Cys) rs999436825 0.00001
NM_020631.6(PLEKHG5):c.155G>A (p.Arg52Gln) rs1022969911 0.00001
NM_020631.6(PLEKHG5):c.1575G>C (p.Val525=) rs1488054852 0.00001
NM_020631.6(PLEKHG5):c.1576A>G (p.Asn526Asp) rs774755047 0.00001
NM_020631.6(PLEKHG5):c.1596G>A (p.Arg532=) rs777519794 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.1647G>A (p.Glu549=) rs770781624 0.00001
NM_020631.6(PLEKHG5):c.1681-3C>T rs370601982 0.00001
NM_020631.6(PLEKHG5):c.168C>T (p.Gly56=) rs1366828227 0.00001
NM_020631.6(PLEKHG5):c.1707C>T (p.Asp569=) rs1033319065 0.00001
NM_020631.6(PLEKHG5):c.1741G>A (p.Glu581Lys) rs267598690 0.00001
NM_020631.6(PLEKHG5):c.1836G>A (p.Leu612=) rs1026753861 0.00001
NM_020631.6(PLEKHG5):c.1874G>A (p.Arg625Lys) rs765998625 0.00001
NM_020631.6(PLEKHG5):c.1890C>T (p.Pro630=) rs1280465351 0.00001
NM_020631.6(PLEKHG5):c.1929C>T (p.Asp643=) rs1644505211 0.00001
NM_020631.6(PLEKHG5):c.1930C>G (p.Pro644Ala) rs781318885 0.00001
NM_020631.6(PLEKHG5):c.1933+17C>T rs766391240 0.00001
NM_020631.6(PLEKHG5):c.1933+18C>T rs369940156 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.1935G>A (p.Gly645=) rs147140763 0.00001
NM_020631.6(PLEKHG5):c.1951T>G (p.Tyr651Asp) rs1644501019 0.00001
NM_020631.6(PLEKHG5):c.1980G>A (p.Gly660=) rs751242417 0.00001
NM_020631.6(PLEKHG5):c.19G>A (p.Val7Ile) rs779425195 0.00001
NM_020631.6(PLEKHG5):c.2042A>G (p.Asn681Ser) rs936501984 0.00001
NM_020631.6(PLEKHG5):c.2049+10G>A rs1478987550 0.00001
NM_020631.6(PLEKHG5):c.210+20C>T rs777308688 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.2142A>G (p.Glu714=) rs750902394 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.2250-13C>T rs547780813 0.00001
NM_020631.6(PLEKHG5):c.2250-5C>T rs746215440 0.00001
NM_020631.6(PLEKHG5):c.2268G>A (p.Thr756=) rs757831916 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.2325C>T (p.Phe775=) rs1644465541 0.00001
NM_020631.6(PLEKHG5):c.23G>A (p.Arg8His) rs779969203 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.2420C>T (p.Pro807Leu) rs371547045 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.2506A>G (p.Met836Val) rs752621606 0.00001
NM_020631.6(PLEKHG5):c.2564C>T (p.Ser855Leu) rs768995193 0.00001
NM_020631.6(PLEKHG5):c.2565G>A (p.Ser855=) rs372308060 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.2683C>G (p.Pro895Ala) rs753662166 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.2759C>T (p.Pro920Leu) rs1436307319 0.00001
NM_020631.6(PLEKHG5):c.2772G>A (p.Gly924=) rs1644444867 0.00001
NM_020631.6(PLEKHG5):c.2796C>T (p.Ala932=) rs1315817273 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.2841G>A (p.Gly947=) rs753283144 0.00001
NM_020631.6(PLEKHG5):c.2892C>G (p.Ala964=) rs1388065890 0.00001
NM_020631.6(PLEKHG5):c.2916C>G (p.Pro972=) rs923660925 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.2952C>T (p.Thr984=) rs886046497 0.00001
NM_020631.6(PLEKHG5):c.2968C>T (p.Arg990Ter) rs772171318 0.00001
NM_020631.6(PLEKHG5):c.2969G>A (p.Arg990Gln) rs762876171 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.474G>A (p.Glu158=) rs751440606 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.510G>A (p.Pro170=) rs773624292 0.00001
NM_020631.6(PLEKHG5):c.527G>C (p.Gly176Ala) rs531190324 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.58C>T (p.Arg20Trp) rs776026198 0.00001
NM_020631.6(PLEKHG5):c.608G>A (p.Arg203His) rs939508255 0.00001
NM_020631.6(PLEKHG5):c.621G>A (p.Ser207=) rs973366523 0.00001
NM_020631.6(PLEKHG5):c.631G>C (p.Gly211Arg) rs1428031986 0.00001
NM_020631.6(PLEKHG5):c.63C>T (p.Asn21=) rs138432284 0.00001
NM_020631.6(PLEKHG5):c.648C>T (p.Pro216=) rs1030435109 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.663C>T (p.Pro221=) rs577756377 0.00001
NM_020631.6(PLEKHG5):c.701G>C (p.Gly234Ala) rs1348491680 0.00001
NM_020631.6(PLEKHG5):c.702C>T (p.Gly234=) rs904191245 0.00001
NM_020631.6(PLEKHG5):c.705C>T (p.Ser235=) rs573567464 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.765C>T (p.Ser255=) rs566596803 0.00001
NM_020631.6(PLEKHG5):c.777C>T (p.Ser259=) rs373244537 0.00001
NM_020631.6(PLEKHG5):c.795+12C>T rs754372537 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.86C>T (p.Pro29Leu) rs998963899 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.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.95G>C (p.Ser32Thr) rs763262703 0.00001
NM_020631.6(PLEKHG5):c.961C>T (p.Arg321Trp) rs761456870 0.00001
NM_020631.6(PLEKHG5):c.984+12C>T rs1322343243 0.00001
NM_020631.6(PLEKHG5):c.984+9G>A rs746193927 0.00001
NM_020631.6(PLEKHG5):c.985-6C>T rs1371350296 0.00001
NM_020631.6(PLEKHG5):c.995G>A (p.Arg332Gln) rs769390222 0.00001
NC_000001.10:g.(?_6527623)_(6537631_?)dup
NC_000001.11:g.(?_6467553)_(6477668_?)del
NC_000001.11:g.(?_6474003)_(6477668_?)del
NM_020631.6(PLEKHG5):c.1002G>A (p.Gln334=)
NM_020631.6(PLEKHG5):c.1002del (p.Gln334fs) rs1644626732
NM_020631.6(PLEKHG5):c.1013A>G (p.Gln338Arg)
NM_020631.6(PLEKHG5):c.1029G>A (p.Glu343=)
NM_020631.6(PLEKHG5):c.102A>G (p.Ala34=) rs771144155
NM_020631.6(PLEKHG5):c.1032G>T (p.Leu344=)
NM_020631.6(PLEKHG5):c.1033C>T (p.Leu345=)
NM_020631.6(PLEKHG5):c.1035G>A (p.Leu345=)
NM_020631.6(PLEKHG5):c.1037A>G (p.His346Arg) rs2148587188
NM_020631.6(PLEKHG5):c.1047C>T (p.Ala349=) rs187107798
NM_020631.6(PLEKHG5):c.1050C>G (p.Ser350=) rs1290410043
NM_020631.6(PLEKHG5):c.1051T>C (p.Tyr351His) rs1569865241
NM_020631.6(PLEKHG5):c.1052A>G (p.Tyr351Cys)
NM_020631.6(PLEKHG5):c.1064T>C (p.Leu355Pro) rs372001535
NM_020631.6(PLEKHG5):c.1065G>T (p.Leu355=) rs2148587100
NM_020631.6(PLEKHG5):c.1073TCA[1] (p.Ile359del)
NM_020631.6(PLEKHG5):c.1080+11G>A
NM_020631.6(PLEKHG5):c.1080+12C>T
NM_020631.6(PLEKHG5):c.1080+13T>C
NM_020631.6(PLEKHG5):c.1080+15C>G
NM_020631.6(PLEKHG5):c.1080+15C>T
NM_020631.6(PLEKHG5):c.1080+16G>A
NM_020631.6(PLEKHG5):c.1080+16G>C
NM_020631.6(PLEKHG5):c.1080+16G>T
NM_020631.6(PLEKHG5):c.1080+17C>T
NM_020631.6(PLEKHG5):c.1080+18T>A
NM_020631.6(PLEKHG5):c.1080+5G>T rs1644623669
NM_020631.6(PLEKHG5):c.1081-11T>C
NM_020631.6(PLEKHG5):c.1081-12C>G
NM_020631.6(PLEKHG5):c.1081-8T>C
NM_020631.6(PLEKHG5):c.1086C>G (p.Phe362Leu)
NM_020631.6(PLEKHG5):c.1098C>G (p.Leu366=) rs1553174372
NM_020631.6(PLEKHG5):c.1099C>T (p.Leu367=)
NM_020631.6(PLEKHG5):c.1111G>A (p.Glu371Lys) rs2148585629
NM_020631.6(PLEKHG5):c.1112A>C (p.Glu371Ala) rs1569861657
NM_020631.6(PLEKHG5):c.1118G>A (p.Gly373Glu) rs1644599017
NM_020631.6(PLEKHG5):c.111G>C (p.Leu37Phe) rs1244644253
NM_020631.6(PLEKHG5):c.1128T>A (p.Cys376Ter)
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+10G>A
NM_020631.6(PLEKHG5):c.1131+15G>A
NM_020631.6(PLEKHG5):c.1131+18G>T
NM_020631.6(PLEKHG5):c.1131+18_1131+34del
NM_020631.6(PLEKHG5):c.1131+19G>A rs746822140
NM_020631.6(PLEKHG5):c.1131+19G>C
NM_020631.6(PLEKHG5):c.1132-15dup
NM_020631.6(PLEKHG5):c.1132-1G>T rs2148585199
NM_020631.6(PLEKHG5):c.1132-20G>C
NM_020631.6(PLEKHG5):c.1132-3del
NM_020631.6(PLEKHG5):c.1132-6G>C rs1569860714
NM_020631.6(PLEKHG5):c.1132-7C>A
NM_020631.6(PLEKHG5):c.1145G>T (p.Arg382Leu) rs1020039192
NM_020631.6(PLEKHG5):c.1145_1146dup (p.Leu383fs) rs1644591704
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.1166A>T (p.Glu389Val)
NM_020631.6(PLEKHG5):c.1170C>A (p.Ile390=)
NM_020631.6(PLEKHG5):c.1173G>T (p.Ala391=) rs1224927053
NM_020631.6(PLEKHG5):c.1200C>T (p.Ser400=)
NM_020631.6(PLEKHG5):c.1209G>T (p.Ala403=)
NM_020631.6(PLEKHG5):c.1215G>A (p.Val405=) rs757671338
NM_020631.6(PLEKHG5):c.1215G>C (p.Val405=)
NM_020631.6(PLEKHG5):c.1218G>A (p.Leu406=)
NM_020631.6(PLEKHG5):c.1230G>C (p.Arg410=)
NM_020631.6(PLEKHG5):c.1248A>G (p.Leu416=)
NM_020631.6(PLEKHG5):c.1251G>A (p.Gln417=)
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.1258del (p.Asp420fs)
NM_020631.6(PLEKHG5):c.1263C>T (p.Phe421=)
NM_020631.6(PLEKHG5):c.1266C>T (p.Leu422=)
NM_020631.6(PLEKHG5):c.1271G>C (p.Gly424Ala) rs1209779631
NM_020631.6(PLEKHG5):c.1278G>A (p.Lys426=)
NM_020631.6(PLEKHG5):c.1281+14C>T
NM_020631.6(PLEKHG5):c.1281+19G>T
NM_020631.6(PLEKHG5):c.1281+19_1281+30del
NM_020631.6(PLEKHG5):c.1281+8C>G
NM_020631.6(PLEKHG5):c.1281+9G>A
NM_020631.6(PLEKHG5):c.1282-18T>G
NM_020631.6(PLEKHG5):c.1282-19_1282-18insG
NM_020631.6(PLEKHG5):c.1282-6G>T
NM_020631.6(PLEKHG5):c.1282-7G>A rs780551776
NM_020631.6(PLEKHG5):c.1282-7G>C
NM_020631.6(PLEKHG5):c.1282-7G>T
NM_020631.6(PLEKHG5):c.1293C>G (p.Leu431=)
NM_020631.6(PLEKHG5):c.1304A>G (p.Tyr435Cys) rs1569857188
NM_020631.6(PLEKHG5):c.1314C>T (p.Tyr438=)
NM_020631.6(PLEKHG5):c.1322AGG[2] (p.Glu443del)
NM_020631.6(PLEKHG5):c.1322AGG[4] (p.Glu443_Gly444insGlu) rs2148583756
NM_020631.6(PLEKHG5):c.1327G>T (p.Glu443Ter)
NM_020631.6(PLEKHG5):c.1334G>T (p.Cys445Phe)
NM_020631.6(PLEKHG5):c.1335C>T (p.Cys445=)
NM_020631.6(PLEKHG5):c.1336A>G (p.Met446Val)
NM_020631.6(PLEKHG5):c.1344C>T (p.Tyr448=)
NM_020631.6(PLEKHG5):c.1346T>C (p.Met449Thr) rs1553174146
NM_020631.6(PLEKHG5):c.1353C>T (p.Gly451=)
NM_020631.6(PLEKHG5):c.1354C>T (p.Leu452=)
NM_020631.6(PLEKHG5):c.1362C>T (p.Arg454=) rs1644560362
NM_020631.6(PLEKHG5):c.1374C>T (p.Leu458=) rs1346162495
NM_020631.6(PLEKHG5):c.1377C>T (p.Phe459=)
NM_020631.6(PLEKHG5):c.1379G>A (p.Arg460Gln) rs1309731055
NM_020631.6(PLEKHG5):c.1380G>A (p.Arg460=)
NM_020631.6(PLEKHG5):c.1385A>G (p.Tyr462Cys) rs2148583545
NM_020631.6(PLEKHG5):c.1392+10_1392+24del rs1064795162
NM_020631.6(PLEKHG5):c.1392+12C>T
NM_020631.6(PLEKHG5):c.1392+13G>C
NM_020631.6(PLEKHG5):c.1392+14_1392+34del
NM_020631.6(PLEKHG5):c.1392+15G>A rs1190288914
NM_020631.6(PLEKHG5):c.1392+16C>T
NM_020631.6(PLEKHG5):c.1392+17C>T
NM_020631.6(PLEKHG5):c.1392+8C>T rs771832632
NM_020631.6(PLEKHG5):c.1392+9G>C
NM_020631.6(PLEKHG5):c.1393-11C>T
NM_020631.6(PLEKHG5):c.1393-14C>T
NM_020631.6(PLEKHG5):c.1393-15A>G
NM_020631.6(PLEKHG5):c.1393-2A>C
NM_020631.6(PLEKHG5):c.1393-4G>A
NM_020631.6(PLEKHG5):c.1393-6C>A
NM_020631.6(PLEKHG5):c.1393-8dup
NM_020631.6(PLEKHG5):c.1393-9C>A
NM_020631.6(PLEKHG5):c.1393-9C>G
NM_020631.6(PLEKHG5):c.1396G>A (p.Ala466Thr)
NM_020631.6(PLEKHG5):c.1396G>C (p.Ala466Pro) rs757292650
NM_020631.6(PLEKHG5):c.1396del (p.Ala466fs)
NM_020631.6(PLEKHG5):c.1407C>T (p.His469=)
NM_020631.6(PLEKHG5):c.1412A>G (p.Gln471Arg)
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.1423C>T (p.Leu475=) rs2148582975
NM_020631.6(PLEKHG5):c.1428G>C (p.Lys476Asn) rs1243221708
NM_020631.6(PLEKHG5):c.1434C>T (p.Ser478=)
NM_020631.6(PLEKHG5):c.1435G>A (p.Asp479Asn) rs2148582918
NM_020631.6(PLEKHG5):c.1438_1439del (p.Met480fs) rs1644550472
NM_020631.6(PLEKHG5):c.1439T>G (p.Met480Arg) rs2148582901
NM_020631.6(PLEKHG5):c.1448A>T (p.Lys483Ile)
NM_020631.6(PLEKHG5):c.1452_1453del (p.His485fs) rs1644549927
NM_020631.6(PLEKHG5):c.1457A>G (p.Gln486Arg)
NM_020631.6(PLEKHG5):c.1458G>A (p.Gln486=)
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.1476G>A (p.Pro492=)
NM_020631.6(PLEKHG5):c.1476G>T (p.Pro492=)
NM_020631.6(PLEKHG5):c.147A>G (p.Lys49=)
NM_020631.6(PLEKHG5):c.149+13T>C
NM_020631.6(PLEKHG5):c.149+13T>G
NM_020631.6(PLEKHG5):c.149+20G>A
NM_020631.6(PLEKHG5):c.1495C>G (p.Leu499Val) rs1064796900
NM_020631.6(PLEKHG5):c.1498A>G (p.Arg500Gly)
NM_020631.6(PLEKHG5):c.150-11C>T
NM_020631.6(PLEKHG5):c.150-12G>A
NM_020631.6(PLEKHG5):c.150-15_150-13del rs773870699
NM_020631.6(PLEKHG5):c.150-16C>T
NM_020631.6(PLEKHG5):c.150-19C>T
NM_020631.6(PLEKHG5):c.150-8C>T
NM_020631.6(PLEKHG5):c.1500G>C (p.Arg500Ser)
NM_020631.6(PLEKHG5):c.1506C>A (p.Thr502=)
NM_020631.6(PLEKHG5):c.1513C>T (p.Pro505Ser) rs530846615
NM_020631.6(PLEKHG5):c.1515G>A (p.Pro505=)
NM_020631.6(PLEKHG5):c.1518C>T (p.Arg506=)
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.1533C>T (p.Val511=)
NM_020631.6(PLEKHG5):c.1535T>C (p.Val512Ala)
NM_020631.6(PLEKHG5):c.1537G>T (p.Ala513Ser) rs1214327374
NM_020631.6(PLEKHG5):c.1542+10A>G
NM_020631.6(PLEKHG5):c.1542+16A>T
NM_020631.6(PLEKHG5):c.1542+18C>G
NM_020631.6(PLEKHG5):c.1542+18C>T
NM_020631.6(PLEKHG5):c.1542+19G>A
NM_020631.6(PLEKHG5):c.1542+19G>C
NM_020631.6(PLEKHG5):c.1542+1G>C
NM_020631.6(PLEKHG5):c.1542+8T>C
NM_020631.6(PLEKHG5):c.1543-11C>T
NM_020631.6(PLEKHG5):c.1543-16C>T
NM_020631.6(PLEKHG5):c.1543-2A>G
NM_020631.6(PLEKHG5):c.1543-4C>G
NM_020631.6(PLEKHG5):c.1543-4C>T
NM_020631.6(PLEKHG5):c.1543-5C>T rs1281567980
NM_020631.6(PLEKHG5):c.1543-6C>T
NM_020631.6(PLEKHG5):c.1545C>T (p.Ile515=) rs762389784
NM_020631.6(PLEKHG5):c.1548C>T (p.Gly516=)
NM_020631.6(PLEKHG5):c.154C>G (p.Arg52Gly) rs777277703
NM_020631.6(PLEKHG5):c.1551C>T (p.Ser517=)
NM_020631.6(PLEKHG5):c.1559G>T (p.Arg520Leu) rs1464358180
NM_020631.6(PLEKHG5):c.1566C>T (p.Ile522=)
NM_020631.6(PLEKHG5):c.1569C>T (p.His523=) rs967572264
NM_020631.6(PLEKHG5):c.1570C>T (p.His524Tyr) rs761251191
NM_020631.6(PLEKHG5):c.1581G>A (p.Ala527=) rs773262365
NM_020631.6(PLEKHG5):c.1581G>T (p.Ala527=)
NM_020631.6(PLEKHG5):c.1588C>T (p.Arg530Trp) rs1480269028
NM_020631.6(PLEKHG5):c.1594C>T (p.Arg532Trp)
NM_020631.6(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del) rs1557739505
NM_020631.6(PLEKHG5):c.15G>A (p.Gly5=)
NM_020631.6(PLEKHG5):c.1602G>A (p.Glu534=)
NM_020631.6(PLEKHG5):c.1617G>A (p.Ala539=)
NM_020631.6(PLEKHG5):c.1617G>C (p.Ala539=)
NM_020631.6(PLEKHG5):c.1620C>T (p.Ala540=)
NM_020631.6(PLEKHG5):c.1623G>A (p.Val541=)
NM_020631.6(PLEKHG5):c.1626G>T (p.Val542=)
NM_020631.6(PLEKHG5):c.1630C>T (p.Arg544Cys) rs1046202834
NM_020631.6(PLEKHG5):c.1635C>T (p.Ile545=) rs1569851488
NM_020631.6(PLEKHG5):c.1644C>G (p.Tyr548Ter)
NM_020631.6(PLEKHG5):c.1644C>T (p.Tyr548=)
NM_020631.6(PLEKHG5):c.1650G>T (p.Val550=)
NM_020631.6(PLEKHG5):c.1653G>A (p.Val551=)
NM_020631.6(PLEKHG5):c.1659C>T (p.Ser553=)
NM_020631.6(PLEKHG5):c.1668C>G (p.Asp556Glu)
NM_020631.6(PLEKHG5):c.1677C>T (p.Asp559=)
NM_020631.6(PLEKHG5):c.1680+13G>A
NM_020631.6(PLEKHG5):c.1680+17G>A
NM_020631.6(PLEKHG5):c.1680+18C>G
NM_020631.6(PLEKHG5):c.1680+18C>T rs758693239
NM_020631.6(PLEKHG5):c.1680+1G>T
NM_020631.6(PLEKHG5):c.1680+7G>A
NM_020631.6(PLEKHG5):c.1680+7G>C
NM_020631.6(PLEKHG5):c.1680+7G>T
NM_020631.6(PLEKHG5):c.1681-15G>A
NM_020631.6(PLEKHG5):c.1681-16C>T
NM_020631.6(PLEKHG5):c.1681-17A>G
NM_020631.6(PLEKHG5):c.1681-27_1681-3dup rs748372368
NM_020631.6(PLEKHG5):c.1681-5C>T
NM_020631.6(PLEKHG5):c.1681-6C>T
NM_020631.6(PLEKHG5):c.1681-8G>A
NM_020631.6(PLEKHG5):c.1681-9C>G rs373133607
NM_020631.6(PLEKHG5):c.1681-9C>T rs373133607
NM_020631.6(PLEKHG5):c.1686G>C (p.Leu562=) rs1416853157
NM_020631.6(PLEKHG5):c.1710G>A (p.Leu570=) rs1644528365
NM_020631.6(PLEKHG5):c.1716G>A (p.Ala572=)
NM_020631.6(PLEKHG5):c.1725T>A (p.Pro575=) rs1644527800
NM_020631.6(PLEKHG5):c.1728C>T (p.Gly576=)
NM_020631.6(PLEKHG5):c.1728dup (p.Ala577fs)
NM_020631.6(PLEKHG5):c.1734C>T (p.Ser578=)
NM_020631.6(PLEKHG5):c.1736dup (p.Glu580fs)
NM_020631.6(PLEKHG5):c.1737G>A (p.Pro579=)
NM_020631.6(PLEKHG5):c.1737G>T (p.Pro579=)
NM_020631.6(PLEKHG5):c.1738G>T (p.Glu580Ter) rs760122001
NM_020631.6(PLEKHG5):c.1743G>A (p.Glu581=) rs1401679164
NM_020631.6(PLEKHG5):c.1747C>G (p.Arg583Gly) rs766560337
NM_020631.6(PLEKHG5):c.1752G>A (p.Gln584=)
NM_020631.6(PLEKHG5):c.1768A>G (p.Ser590Gly)
NM_020631.6(PLEKHG5):c.1776G>A (p.Arg592=)
NM_020631.6(PLEKHG5):c.1782G>A (p.Lys594=) rs762805368
NM_020631.6(PLEKHG5):c.1788del (p.Lys597fs) rs1644525008
NM_020631.6(PLEKHG5):c.1800+10G>A
NM_020631.6(PLEKHG5):c.1800+16C>A
NM_020631.6(PLEKHG5):c.1800+19C>T
NM_020631.6(PLEKHG5):c.1801-10_1801-8del
NM_020631.6(PLEKHG5):c.1801-15C>G
NM_020631.6(PLEKHG5):c.1801-15C>T
NM_020631.6(PLEKHG5):c.1801-15del rs750991690
NM_020631.6(PLEKHG5):c.1801-15dup
NM_020631.6(PLEKHG5):c.1801-16C>A rs369955570
NM_020631.6(PLEKHG5):c.1801-16C>G
NM_020631.6(PLEKHG5):c.1801-16C>T rs369955570
NM_020631.6(PLEKHG5):c.1801-17C>A
NM_020631.6(PLEKHG5):c.1801-17C>G rs373357833
NM_020631.6(PLEKHG5):c.1801-17C>T
NM_020631.6(PLEKHG5):c.1801-18C>G
NM_020631.6(PLEKHG5):c.1801-20C>G
NM_020631.6(PLEKHG5):c.1801-2A>G
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.1809G>A (p.Val603=)
NM_020631.6(PLEKHG5):c.180C>T (p.Ser60=)
NM_020631.6(PLEKHG5):c.1812C>T (p.Tyr604=)
NM_020631.6(PLEKHG5):c.1815C>T (p.Cys605=)
NM_020631.6(PLEKHG5):c.1827G>A (p.Thr609=)
NM_020631.6(PLEKHG5):c.1834C>T (p.Leu612=)
NM_020631.6(PLEKHG5):c.1840G>C (p.Val614Leu) rs752514480
NM_020631.6(PLEKHG5):c.1842G>A (p.Val614=)
NM_020631.6(PLEKHG5):c.1845C>T (p.Thr615=)
NM_020631.6(PLEKHG5):c.1860G>A (p.Lys620=)
NM_020631.6(PLEKHG5):c.1868G>C (p.Arg623Thr) rs759538158
NM_020631.6(PLEKHG5):c.1869G>A (p.Arg623=)
NM_020631.6(PLEKHG5):c.1872C>G (p.Thr624=)
NM_020631.6(PLEKHG5):c.1878C>T (p.Val626=)
NM_020631.6(PLEKHG5):c.187A>T (p.Lys63Ter)
NM_020631.6(PLEKHG5):c.1884G>A (p.Arg628=)
NM_020631.6(PLEKHG5):c.1893G>A (p.Leu631=) rs2148579764
NM_020631.6(PLEKHG5):c.1902C>A (p.Asp634Glu)
NM_020631.6(PLEKHG5):c.1904A>G (p.Lys635Arg)
NM_020631.6(PLEKHG5):c.1933+10C>A
NM_020631.6(PLEKHG5):c.1933+12T>C rs2148579594
NM_020631.6(PLEKHG5):c.1933+14G>T
NM_020631.6(PLEKHG5):c.1933+19C>G
NM_020631.6(PLEKHG5):c.1933+1del
NM_020631.6(PLEKHG5):c.1933+9C>T
NM_020631.6(PLEKHG5):c.1934-17G>T
NM_020631.6(PLEKHG5):c.1934-2A>C
NM_020631.6(PLEKHG5):c.1934-9C>G rs373933352
NM_020631.6(PLEKHG5):c.1935G>T (p.Gly645=) rs147140763
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.1989G>A (p.Thr663=)
NM_020631.6(PLEKHG5):c.1998C>T (p.Ala666=)
NM_020631.6(PLEKHG5):c.1999A>G (p.Ser667Gly)
NM_020631.6(PLEKHG5):c.1A>G (p.Met1Val)
NM_020631.6(PLEKHG5):c.2001_2002inv (p.Gly668Ser)
NM_020631.6(PLEKHG5):c.2040C>T (p.Tyr680=)
NM_020631.6(PLEKHG5):c.2049+11A>G rs1557737418
NM_020631.6(PLEKHG5):c.2049+7G>A
NM_020631.6(PLEKHG5):c.2049+8C>G
NM_020631.6(PLEKHG5):c.2050-10T>A
NM_020631.6(PLEKHG5):c.2050-11C>G
NM_020631.6(PLEKHG5):c.2050-12C>T
NM_020631.6(PLEKHG5):c.2050-14A>G
NM_020631.6(PLEKHG5):c.2050-16C>T
NM_020631.6(PLEKHG5):c.2050-9T>G
NM_020631.6(PLEKHG5):c.2052C>T (p.Asn684=)
NM_020631.6(PLEKHG5):c.2056C>T (p.Leu686=) rs1569842648
NM_020631.6(PLEKHG5):c.2060A>T (p.Gln687Leu) rs1046289350
NM_020631.6(PLEKHG5):c.2066T>G (p.Leu689Arg)
NM_020631.6(PLEKHG5):c.2068C>A (p.Arg690Ser)
NM_020631.6(PLEKHG5):c.2068C>T (p.Arg690Cys) rs149089640
NM_020631.6(PLEKHG5):c.2074_2075del (p.Gln692fs) rs2148578668
NM_020631.6(PLEKHG5):c.2076G>A (p.Gln692=)
NM_020631.6(PLEKHG5):c.207G>A (p.Thr69=)
NM_020631.6(PLEKHG5):c.2088C>T (p.Gly696=)
NM_020631.6(PLEKHG5):c.210+14C>G
NM_020631.6(PLEKHG5):c.210+14dup
NM_020631.6(PLEKHG5):c.210+15A>G
NM_020631.6(PLEKHG5):c.210+9C>T
NM_020631.6(PLEKHG5):c.211-16C>T
NM_020631.6(PLEKHG5):c.211-17C>T
NM_020631.6(PLEKHG5):c.211-22CCCACC[3]
NM_020631.6(PLEKHG5):c.211-23_211-14dup
NM_020631.6(PLEKHG5):c.211-4C>G
NM_020631.6(PLEKHG5):c.211-5C>A
NM_020631.6(PLEKHG5):c.211-5C>T
NM_020631.6(PLEKHG5):c.211-7C>A
NM_020631.6(PLEKHG5):c.2112G>A (p.Leu704=)
NM_020631.6(PLEKHG5):c.2117A>G (p.Glu706Gly)
NM_020631.6(PLEKHG5):c.2130G>A (p.Glu710=)
NM_020631.6(PLEKHG5):c.2132del (p.Gln711fs)
NM_020631.6(PLEKHG5):c.2138A>C (p.Glu713Ala) rs1241363420
NM_020631.6(PLEKHG5):c.2139G>A (p.Glu713=)
NM_020631.6(PLEKHG5):c.2142_2153dup (p.Glu723_Gly724insGluGluGluGlu) rs1553173393
NM_020631.6(PLEKHG5):c.2142_2156del (p.Glu719_Glu723del)
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[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.2146G>T (p.Glu716Ter)
NM_020631.6(PLEKHG5):c.2148G>A (p.Glu716=) rs1569841449
NM_020631.6(PLEKHG5):c.2149G>T (p.Glu717Ter) rs184242303
NM_020631.6(PLEKHG5):c.2150_2154del (p.Glu717fs)
NM_020631.6(PLEKHG5):c.2151G>A (p.Glu717=)
NM_020631.6(PLEKHG5):c.2151G>C (p.Glu717Asp) rs761945225
NM_020631.6(PLEKHG5):c.2154G>A (p.Glu718=) rs1410366410
NM_020631.6(PLEKHG5):c.2156_2157insAGA (p.Glu723_Gly724insGlu) rs1553173388
NM_020631.6(PLEKHG5):c.2158G>T (p.Glu720Ter)
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
NM_020631.6(PLEKHG5):c.2160_2161del (p.Glu721fs)
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.2163delinsTGAGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAA (p.Glu720_Glu721insAspGluGlnGluGluGluGluGluGluGluGluGlu)
NM_020631.6(PLEKHG5):c.2164del (p.Glu722fs) rs201182604
NM_020631.6(PLEKHG5):c.2165_2170dup (p.Glu723_Gly724insGluGlu) rs960528373
NM_020631.6(PLEKHG5):c.2166_2167insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG (p.Glu722_Glu723insGlnGluGluGluGluGluGluGluGluGluGluGlu)
NM_020631.6(PLEKHG5):c.2180G>T (p.Ser727Ile) rs770641755
NM_020631.6(PLEKHG5):c.2199C>T (p.Ser733=)
NM_020631.6(PLEKHG5):c.2208C>G (p.Thr736=)
NM_020631.6(PLEKHG5):c.2209A>G (p.Ile737Val) rs1644484109
NM_020631.6(PLEKHG5):c.2210T>G (p.Ile737Ser)
NM_020631.6(PLEKHG5):c.2217G>A (p.Arg739=)
NM_020631.6(PLEKHG5):c.2227G>C (p.Gly743Arg)
NM_020631.6(PLEKHG5):c.2228G>C (p.Gly743Ala) rs1245961862
NM_020631.6(PLEKHG5):c.2229C>T (p.Gly743=)
NM_020631.6(PLEKHG5):c.2231del (p.Ser744fs)
NM_020631.6(PLEKHG5):c.2232C>T (p.Ser744=)
NM_020631.6(PLEKHG5):c.2233C>A (p.Pro745Thr) rs756501907
NM_020631.6(PLEKHG5):c.2234C>G (p.Pro745Arg)
NM_020631.6(PLEKHG5):c.2236G>A (p.Asp746Asn)
NM_020631.6(PLEKHG5):c.2241T>C (p.Ser747=)
NM_020631.6(PLEKHG5):c.2242C>T (p.Gln748Ter)
NM_020631.6(PLEKHG5):c.2244G>A (p.Gln748=) rs1569839599
NM_020631.6(PLEKHG5):c.2244G>C (p.Gln748His) rs1569839599
NM_020631.6(PLEKHG5):c.2249+12C>T
NM_020631.6(PLEKHG5):c.2249+14T>C
NM_020631.6(PLEKHG5):c.2249+14T>G
NM_020631.6(PLEKHG5):c.2249+16A>G rs2148577839
NM_020631.6(PLEKHG5):c.2249+1G>A
NM_020631.6(PLEKHG5):c.2250-12C>G
NM_020631.6(PLEKHG5):c.2250-15C>T
NM_020631.6(PLEKHG5):c.2250-18C>G
NM_020631.6(PLEKHG5):c.2250-2A>C
NM_020631.6(PLEKHG5):c.2252C>T (p.Ala751Val)
NM_020631.6(PLEKHG5):c.2253C>T (p.Ala751=)
NM_020631.6(PLEKHG5):c.2265C>A (p.Ser755=)
NM_020631.6(PLEKHG5):c.2269G>T (p.Glu757Ter)
NM_020631.6(PLEKHG5):c.2274C>A (p.Thr758=)
NM_020631.6(PLEKHG5):c.2279C>T (p.Ala760Val) rs1569836518
NM_020631.6(PLEKHG5):c.2280C>T (p.Ala760=) rs2148576793
NM_020631.6(PLEKHG5):c.2292A>G (p.Val764=)
NM_020631.6(PLEKHG5):c.2293G>C (p.Glu765Gln) rs532817130
NM_020631.6(PLEKHG5):c.2301G>C (p.Gly767=)
NM_020631.6(PLEKHG5):c.2312C>A (p.Ser771Tyr) rs1644465940
NM_020631.6(PLEKHG5):c.2316C>A (p.Ser772=)
NM_020631.6(PLEKHG5):c.2319C>G (p.Pro773=) rs80031446
NM_020631.6(PLEKHG5):c.2319C>T (p.Pro773=) rs80031446
NM_020631.6(PLEKHG5):c.2332G>T (p.Gly778Cys) rs768087057
NM_020631.6(PLEKHG5):c.2334T>G (p.Gly778=)
NM_020631.6(PLEKHG5):c.2352T>G (p.Ser784=) rs2148576624
NM_020631.6(PLEKHG5):c.2366_2367del (p.Leu789fs) rs759212541
NM_020631.6(PLEKHG5):c.2372C>A (p.Thr791Asn)
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs) rs753593088
NM_020631.6(PLEKHG5):c.2381C>T (p.Ser794Leu) rs2148576538
NM_020631.6(PLEKHG5):c.2397C>T (p.Thr799=)
NM_020631.6(PLEKHG5):c.2400T>C (p.Ser800=)
NM_020631.6(PLEKHG5):c.2418T>C (p.Gly806=)
NM_020631.6(PLEKHG5):c.2421G>C (p.Pro807=)
NM_020631.6(PLEKHG5):c.2428G>T (p.Gly810Cys) rs76625876
NM_020631.6(PLEKHG5):c.2439C>T (p.Cys813=)
NM_020631.6(PLEKHG5):c.2442C>T (p.Ser814=)
NM_020631.6(PLEKHG5):c.2451T>C (p.Ser817=)
NM_020631.6(PLEKHG5):c.2453C>T (p.Ala818Val)
NM_020631.6(PLEKHG5):c.2454C>G (p.Ala818=)
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.2463C>G (p.Thr821=)
NM_020631.6(PLEKHG5):c.2464C>A (p.Leu822Ile)
NM_020631.6(PLEKHG5):c.2471del (p.Pro824fs)
NM_020631.6(PLEKHG5):c.2472A>G (p.Pro824=)
NM_020631.6(PLEKHG5):c.2473A>G (p.Thr825Ala) rs779264802
NM_020631.6(PLEKHG5):c.2489T>C (p.Phe830Ser) rs764007395
NM_020631.6(PLEKHG5):c.2489_2490del (p.Phe830fs)
NM_020631.6(PLEKHG5):c.2496C>A (p.Ala832=)
NM_020631.6(PLEKHG5):c.2496C>T (p.Ala832=)
NM_020631.6(PLEKHG5):c.249G>C (p.Leu83=)
NM_020631.6(PLEKHG5):c.2502C>T (p.Gly834=)
NM_020631.6(PLEKHG5):c.2505A>G (p.Pro835=)
NM_020631.6(PLEKHG5):c.2513A>G (p.Glu838Gly) rs1287801386
NM_020631.6(PLEKHG5):c.2520G>A (p.Val840=) rs2148576118
NM_020631.6(PLEKHG5):c.2537C>A (p.Ser846Tyr) rs1180411078
NM_020631.6(PLEKHG5):c.2538C>A (p.Ser846=) rs776995250
NM_020631.6(PLEKHG5):c.2539C>T (p.Pro847Ser) rs1390984037
NM_020631.6(PLEKHG5):c.2540del (p.Pro847fs)
NM_020631.6(PLEKHG5):c.2553C>T (p.Ser851=) rs2148575994
NM_020631.6(PLEKHG5):c.2589T>C (p.Pro863=)
NM_020631.6(PLEKHG5):c.2596C>T (p.Leu866=)
NM_020631.6(PLEKHG5):c.2622C>G (p.Leu874=)
NM_020631.6(PLEKHG5):c.2628dup (p.Lys877Ter)
NM_020631.6(PLEKHG5):c.2646C>T (p.Leu882=)
NM_020631.6(PLEKHG5):c.2652G>T (p.Gln884His)
NM_020631.6(PLEKHG5):c.2658G>A (p.Leu886=)
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.2665del (p.Ala889fs)
NM_020631.6(PLEKHG5):c.2672C>T (p.Thr891Ile) rs2148575479
NM_020631.6(PLEKHG5):c.2679G>A (p.Gly893=)
NM_020631.6(PLEKHG5):c.2691C>G (p.Ala897=) rs755539639
NM_020631.6(PLEKHG5):c.269A>G (p.Glu90Gly) rs1247695536
NM_020631.6(PLEKHG5):c.2721G>A (p.Leu907=)
NM_020631.6(PLEKHG5):c.2733C>A (p.Ala911=)
NM_020631.6(PLEKHG5):c.2733C>T (p.Ala911=)
NM_020631.6(PLEKHG5):c.2736A>C (p.Pro912=)
NM_020631.6(PLEKHG5):c.273C>A (p.Ile91=)
NM_020631.6(PLEKHG5):c.2744G>A (p.Arg915Lys) rs1644446616
NM_020631.6(PLEKHG5):c.2745G>A (p.Arg915=)
NM_020631.6(PLEKHG5):c.2749C>G (p.Gln917Glu) rs910647086
NM_020631.6(PLEKHG5):c.2751G>C (p.Gln917His)
NM_020631.6(PLEKHG5):c.2759_2761del (p.Pro920del) rs536097668
NM_020631.6(PLEKHG5):c.2788C>T (p.Arg930Ter)
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.2793G>A (p.Gly931=)
NM_020631.6(PLEKHG5):c.2796C>G (p.Ala932=)
NM_020631.6(PLEKHG5):c.2799T>G (p.Pro933=) rs779825659
NM_020631.6(PLEKHG5):c.27C>T (p.Phe9=)
NM_020631.6(PLEKHG5):c.2827G>A (p.Gly943Ser) rs114619322
NM_020631.6(PLEKHG5):c.2838C>G (p.Ala946=) rs573561537
NM_020631.6(PLEKHG5):c.2868G>A (p.Arg956=)
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.2880_2881del (p.Pro961fs)
NM_020631.6(PLEKHG5):c.2883C>T (p.Pro961=)
NM_020631.6(PLEKHG5):c.2886G>A (p.Ser962=) rs749015188
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>T (p.Lys96Asn) rs575792064
NM_020631.6(PLEKHG5):c.2893_2915del (p.Ser965fs)
NM_020631.6(PLEKHG5):c.2894C>T (p.Ser965Phe) rs1337483830
NM_020631.6(PLEKHG5):c.2902del (p.Val968fs)
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.291G>A (p.Lys97=)
NM_020631.6(PLEKHG5):c.2924G>A (p.Gly975Glu)
NM_020631.6(PLEKHG5):c.2925G>A (p.Gly975=)
NM_020631.6(PLEKHG5):c.2944A>G (p.Lys982Glu)
NM_020631.6(PLEKHG5):c.2945del (p.Lys982fs)
NM_020631.6(PLEKHG5):c.2956G>A (p.Ala986Thr)
NM_020631.6(PLEKHG5):c.2958C>T (p.Ala986=)
NM_020631.6(PLEKHG5):c.2972T>C (p.Ile991Thr)
NM_020631.6(PLEKHG5):c.2975G>A (p.Arg992Lys) rs750720112
NM_020631.6(PLEKHG5):c.2976G>A (p.Arg992=)
NM_020631.6(PLEKHG5):c.2982C>T (p.Thr994=)
NM_020631.6(PLEKHG5):c.2983C>T (p.Leu995=)
NM_020631.6(PLEKHG5):c.2986C>T (p.Leu996=) rs1249333557
NM_020631.6(PLEKHG5):c.2987T>C (p.Leu996Pro) rs2148574076
NM_020631.6(PLEKHG5):c.298C>T (p.Leu100=) rs2148592587
NM_020631.6(PLEKHG5):c.2994C>T (p.Asn998=)
NM_020631.6(PLEKHG5):c.2T>C (p.Met1Thr)
NM_020631.6(PLEKHG5):c.3000G>A (p.Thr1000=) rs770466036
NM_020631.6(PLEKHG5):c.3003C>T (p.Leu1001=)
NM_020631.6(PLEKHG5):c.3008C>T (p.Ala1003Val)
NM_020631.6(PLEKHG5):c.3011+11T>C
NM_020631.6(PLEKHG5):c.3011+12G>A
NM_020631.6(PLEKHG5):c.3011+15C>A
NM_020631.6(PLEKHG5):c.3011+17G>A
NM_020631.6(PLEKHG5):c.3011+19G>A
NM_020631.6(PLEKHG5):c.3011+6T>C rs1569827097
NM_020631.6(PLEKHG5):c.3012-10C>T
NM_020631.6(PLEKHG5):c.3012-11C>G
NM_020631.6(PLEKHG5):c.3012-15C>G
NM_020631.6(PLEKHG5):c.3012-17C>T
NM_020631.6(PLEKHG5):c.3012-17_3012-6del rs774593947
NM_020631.6(PLEKHG5):c.3012-18C>T
NM_020631.6(PLEKHG5):c.3012-7C>T
NM_020631.6(PLEKHG5):c.3015G>A (p.Glu1005=)
NM_020631.6(PLEKHG5):c.302+10_302+11delinsTT rs1553175406
NM_020631.6(PLEKHG5):c.302+16del
NM_020631.6(PLEKHG5):c.302+6G>A rs1553175409
NM_020631.6(PLEKHG5):c.303-12T>C
NM_020631.6(PLEKHG5):c.303-13G>C
NM_020631.6(PLEKHG5):c.303-16C>T rs2148591484
NM_020631.6(PLEKHG5):c.303-19C>G
NM_020631.6(PLEKHG5):c.303-19C>T
NM_020631.6(PLEKHG5):c.303-4G>A rs746297437
NM_020631.6(PLEKHG5):c.303-7G>C rs1164371404
NM_020631.6(PLEKHG5):c.307G>T (p.Val103Leu) rs141032388
NM_020631.6(PLEKHG5):c.318T>C (p.Pro106=)
NM_020631.6(PLEKHG5):c.333G>A (p.Lys111=)
NM_020631.6(PLEKHG5):c.341C>T (p.Ala114Val)
NM_020631.6(PLEKHG5):c.342G>A (p.Ala114=)
NM_020631.6(PLEKHG5):c.343C>T (p.Leu115=)
NM_020631.6(PLEKHG5):c.34C>T (p.Pro12Ser) rs140687324
NM_020631.6(PLEKHG5):c.363C>A (p.Tyr121Ter)
NM_020631.6(PLEKHG5):c.363C>T (p.Tyr121=)
NM_020631.6(PLEKHG5):c.365_378del (p.Leu122fs)
NM_020631.6(PLEKHG5):c.367G>A (p.Asp123Asn) rs759645488
NM_020631.6(PLEKHG5):c.369C>T (p.Asp123=)
NM_020631.6(PLEKHG5):c.36C>A (p.Pro12=) rs2148598115
NM_020631.6(PLEKHG5):c.372G>A (p.Gln124=)
NM_020631.6(PLEKHG5):c.379A>G (p.Thr127Ala) rs2148591381
NM_020631.6(PLEKHG5):c.386del (p.Leu129fs) rs2148591365
NM_020631.6(PLEKHG5):c.38C>T (p.Pro13Leu) rs776271244
NM_020631.6(PLEKHG5):c.38dup (p.Gln14fs)
NM_020631.6(PLEKHG5):c.39A>G (p.Pro13=) rs2148598086
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.417G>A (p.Gly139=)
NM_020631.6(PLEKHG5):c.420A>T (p.Gly140=)
NM_020631.6(PLEKHG5):c.426C>T (p.Tyr142=)
NM_020631.6(PLEKHG5):c.43+12C>T
NM_020631.6(PLEKHG5):c.43+13G>C
NM_020631.6(PLEKHG5):c.43+14_43+20del rs527883968
NM_020631.6(PLEKHG5):c.43+19C>T
NM_020631.6(PLEKHG5):c.43+20G>A rs200779049
NM_020631.6(PLEKHG5):c.43+7A>G
NM_020631.6(PLEKHG5):c.43+8_43+22del
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.439+17G>A
NM_020631.6(PLEKHG5):c.439+8G>A
NM_020631.6(PLEKHG5):c.439+9C>G
NM_020631.6(PLEKHG5):c.44-13G>A
NM_020631.6(PLEKHG5):c.44-5C>T
NM_020631.6(PLEKHG5):c.440-17G>A rs200894921
NM_020631.6(PLEKHG5):c.440-17G>C
NM_020631.6(PLEKHG5):c.440-18C>T
NM_020631.6(PLEKHG5):c.440-7_440-6inv
NM_020631.6(PLEKHG5):c.440-9C>T rs772633418
NM_020631.6(PLEKHG5):c.441C>A (p.Ala147=)
NM_020631.6(PLEKHG5):c.441C>T (p.Ala147=)
NM_020631.6(PLEKHG5):c.444A>G (p.Pro148=)
NM_020631.6(PLEKHG5):c.450G>A (p.Lys150=)
NM_020631.6(PLEKHG5):c.453_543del (p.Gly152fs) rs1569875704
NM_020631.6(PLEKHG5):c.454G>A (p.Gly152Arg)
NM_020631.6(PLEKHG5):c.456A>G (p.Gly152=)
NM_020631.6(PLEKHG5):c.479G>A (p.Gly160Asp)
NM_020631.6(PLEKHG5):c.489C>G (p.Asp163Glu)
NM_020631.6(PLEKHG5):c.494A>G (p.Lys165Arg)
NM_020631.6(PLEKHG5):c.495G>C (p.Lys165Asn) rs150772386
NM_020631.6(PLEKHG5):c.498C>T (p.Ser166=)
NM_020631.6(PLEKHG5):c.4C>T (p.His2Tyr) rs2148598223
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.510G>C (p.Pro170=)
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.525T>G (p.Ala175=)
NM_020631.6(PLEKHG5):c.534G>T (p.Gly178=) rs1569875832
NM_020631.6(PLEKHG5):c.535C>T (p.Pro179Ser) rs1644682762
NM_020631.6(PLEKHG5):c.537C>A (p.Pro179=)
NM_020631.6(PLEKHG5):c.540C>A (p.Pro180=)
NM_020631.6(PLEKHG5):c.540C>G (p.Pro180=) rs372624847
NM_020631.6(PLEKHG5):c.540C>T (p.Pro180=) rs372624847
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.552T>G (p.Arg184=)
NM_020631.6(PLEKHG5):c.559G>A (p.Ala187Thr) rs199503669
NM_020631.6(PLEKHG5):c.55G>A (p.Ala19Thr)
NM_020631.6(PLEKHG5):c.562C>A (p.Gln188Lys)
NM_020631.6(PLEKHG5):c.565A>G (p.Ser189Gly) rs1321100552
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.573G>A (p.Arg191=)
NM_020631.6(PLEKHG5):c.583G>A (p.Asp195Asn)
NM_020631.6(PLEKHG5):c.586A>G (p.Ile196Val) rs1159602956
NM_020631.6(PLEKHG5):c.591+10dup
NM_020631.6(PLEKHG5):c.591+14G>C
NM_020631.6(PLEKHG5):c.591+15G>A
NM_020631.6(PLEKHG5):c.591+15del
NM_020631.6(PLEKHG5):c.591+4AGG[4]
NM_020631.6(PLEKHG5):c.591+9G>C rs372310391
NM_020631.6(PLEKHG5):c.591+9G>T
NM_020631.6(PLEKHG5):c.592-10C>T
NM_020631.6(PLEKHG5):c.592-13C>G
NM_020631.6(PLEKHG5):c.592-13C>T
NM_020631.6(PLEKHG5):c.592-15C>A
NM_020631.6(PLEKHG5):c.592-20G>A
NM_020631.6(PLEKHG5):c.592-4C>T
NM_020631.6(PLEKHG5):c.592-6G>C
NM_020631.6(PLEKHG5):c.592-8C>A
NM_020631.6(PLEKHG5):c.592-9C>T
NM_020631.6(PLEKHG5):c.594C>G (p.Ala198=) rs1557745612
NM_020631.6(PLEKHG5):c.594C>T (p.Ala198=)
NM_020631.6(PLEKHG5):c.59G>A (p.Arg20Gln) rs1259066437
NM_020631.6(PLEKHG5):c.600C>T (p.Gly200=)
NM_020631.6(PLEKHG5):c.601C>T (p.Arg201Cys) rs561283132
NM_020631.6(PLEKHG5):c.601CGC[4] (p.Arg203_Lys204insArg)
NM_020631.6(PLEKHG5):c.605G>A (p.Arg202His)
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.627C>T (p.Phe209=)
NM_020631.6(PLEKHG5):c.633G>A (p.Gly211=)
NM_020631.6(PLEKHG5):c.633G>T (p.Gly211=) rs1365704916
NM_020631.6(PLEKHG5):c.657G>A (p.Glu219=)
NM_020631.6(PLEKHG5):c.663C>A (p.Pro221=)
NM_020631.6(PLEKHG5):c.665C>A (p.Thr222Lys) rs373678202
NM_020631.6(PLEKHG5):c.666G>A (p.Thr222=)
NM_020631.6(PLEKHG5):c.66G>C (p.Val22=)
NM_020631.6(PLEKHG5):c.690C>T (p.Ser230=)
NM_020631.6(PLEKHG5):c.711C>T (p.Asn237=)
NM_020631.6(PLEKHG5):c.717C>T (p.Gly239=)
NM_020631.6(PLEKHG5):c.729G>A (p.Lys243=)
NM_020631.6(PLEKHG5):c.738G>A (p.Ala246=)
NM_020631.6(PLEKHG5):c.739G>C (p.Ala247Pro) rs772232182
NM_020631.6(PLEKHG5):c.740C>T (p.Ala247Val)
NM_020631.6(PLEKHG5):c.745C>T (p.Arg249Cys) rs1436222408
NM_020631.6(PLEKHG5):c.748T>C (p.Phe250Leu)
NM_020631.6(PLEKHG5):c.74G>A (p.Arg25Gln) rs1201574261
NM_020631.6(PLEKHG5):c.74G>C (p.Arg25Pro) rs1201574261
NM_020631.6(PLEKHG5):c.779_780del (p.Thr260fs) rs1644651573
NM_020631.6(PLEKHG5):c.784G>A (p.Ala262Thr) rs550362834
NM_020631.6(PLEKHG5):c.78A>G (p.Ser26=)
NM_020631.6(PLEKHG5):c.792C>T (p.Gly264=)
NM_020631.6(PLEKHG5):c.794G>A (p.Arg265Gln) rs1280977628
NM_020631.6(PLEKHG5):c.795+16T>A
NM_020631.6(PLEKHG5):c.795+20C>G
NM_020631.6(PLEKHG5):c.795+20C>T
NM_020631.6(PLEKHG5):c.796-12G>C
NM_020631.6(PLEKHG5):c.796-13G>A
NM_020631.6(PLEKHG5):c.796-13G>C rs377254091
NM_020631.6(PLEKHG5):c.796-17C>T
NM_020631.6(PLEKHG5):c.796-20T>C rs1344632009
NM_020631.6(PLEKHG5):c.796-6T>C
NM_020631.6(PLEKHG5):c.796-6T>G
NM_020631.6(PLEKHG5):c.807G>A (p.Lys269=)
NM_020631.6(PLEKHG5):c.80G>A (p.Cys27Tyr) rs1569889912
NM_020631.6(PLEKHG5):c.819G>A (p.Leu273=) rs771904496
NM_020631.6(PLEKHG5):c.826A>C (p.Lys276Gln) rs1644646685
NM_020631.6(PLEKHG5):c.840C>T (p.Tyr280=)
NM_020631.6(PLEKHG5):c.845T>A (p.Leu282His) rs2148588292
NM_020631.6(PLEKHG5):c.869G>A (p.Arg290Gln)
NM_020631.6(PLEKHG5):c.870G>A (p.Arg290=)
NM_020631.6(PLEKHG5):c.873G>C (p.Gly291=)
NM_020631.6(PLEKHG5):c.879C>T (p.Arg293=)
NM_020631.6(PLEKHG5):c.889G>A (p.Asp297Asn) rs1644643276
NM_020631.6(PLEKHG5):c.893C>T (p.Ser298Phe)
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.906G>A (p.Glu302=)
NM_020631.6(PLEKHG5):c.909C>A (p.Tyr303Ter) rs376900021
NM_020631.6(PLEKHG5):c.909_911del (p.Asp304del) rs2148588099
NM_020631.6(PLEKHG5):c.90C>T (p.Arg30=)
NM_020631.6(PLEKHG5):c.915A>G (p.Glu305=)
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.921G>A (p.Glu307=)
NM_020631.6(PLEKHG5):c.927G>A (p.Glu309=)
NM_020631.6(PLEKHG5):c.92C>G (p.Thr31Ser)
NM_020631.6(PLEKHG5):c.935C>A (p.Ala312Asp)
NM_020631.6(PLEKHG5):c.938G>A (p.Cys313Tyr)
NM_020631.6(PLEKHG5):c.940C>T (p.Leu314=)
NM_020631.6(PLEKHG5):c.951G>C (p.Glu317Asp) rs767511293
NM_020631.6(PLEKHG5):c.966G>A (p.Glu322=)
NM_020631.6(PLEKHG5):c.967C>A (p.Leu323Ile) rs1275790736
NM_020631.6(PLEKHG5):c.984+14A>G
NM_020631.6(PLEKHG5):c.984+14A>T
NM_020631.6(PLEKHG5):c.984+15C>T
NM_020631.6(PLEKHG5):c.984+15_984+16del
NM_020631.6(PLEKHG5):c.984+17G>A
NM_020631.6(PLEKHG5):c.984+3G>A rs1282919159
NM_020631.6(PLEKHG5):c.984+8C>A
NM_020631.6(PLEKHG5):c.984+8C>G
NM_020631.6(PLEKHG5):c.985-11C>T
NM_020631.6(PLEKHG5):c.985-18A>T
NM_020631.6(PLEKHG5):c.985-19C>T
NM_020631.6(PLEKHG5):c.985-19del
NM_020631.6(PLEKHG5):c.985-2A>G rs1553174566
NM_020631.6(PLEKHG5):c.985-4C>T
NM_020631.6(PLEKHG5):c.985-6C>G rs1371350296
NM_020631.6(PLEKHG5):c.985-7C>A
NM_020631.6(PLEKHG5):c.990G>T (p.Leu330=)
NM_020631.6(PLEKHG5):c.993C>T (p.Thr331=)
NM_020631.6(PLEKHG5):c.997C>A (p.Arg333=) rs148232621
NM_020631.6(PLEKHG5):c.997C>T (p.Arg333Trp) rs148232621
NM_020631.6(PLEKHG5):c.99C>A (p.Pro33=)
NM_020631.6(PLEKHG5):c.99C>G (p.Pro33=)

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