ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease recessive intermediate C

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1125
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198681.4(PLEKHG5):c.-267G>A rs1556035 0.77574
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.1393-16C>G rs747761762 0.02500
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.-88+6328C>T rs147378306 0.00522
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.1132-2A>C rs1557742277 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_001042663.3(PLEKHG5):c.22_23insGGCC (p.Lys8fs) rs2148627334
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.1393-22dup rs111312565
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.1844C>A (p.Thr615Asn)
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.352G>A (p.Val118Met)
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.38del (p.Pro13fs) rs397515454
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.912_918dup (p.Glu307Ter) rs397515455
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=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.