ClinVar Miner

List of variants in gene PLEC studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 517
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HGVS dbSNP gnomAD frequency
NM_201384.3(PLEC):c.2457+6C>T rs11780911 0.66214
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=) rs6558406 0.55590
NM_201384.3(PLEC):c.12813A>G (p.Ser4271=) rs6558405 0.54173
NM_201384.3(PLEC):c.13461T>C (p.Ala4487=) rs7014582 0.54076
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=) rs7822511 0.53938
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro) rs7833924 0.53335
NM_201384.3(PLEC):c.3965A>G (p.His1322Arg) rs55895668 0.53310
NM_201384.3(PLEC):c.11127T>C (p.Ala3709=) rs7819099 0.50384
NM_201384.3(PLEC):c.1264-15G>A rs7003580 0.45916
NM_201384.3(PLEC):c.1815+13A>G rs10866916 0.39200
NM_201384.3(PLEC):c.*10C>T rs1065837 0.30524
NM_201384.3(PLEC):c.4413T>C (p.Ala1471=) rs35916068 0.30160
NM_201384.3(PLEC):c.5907T>C (p.Ala1969=) rs2857829 0.29968
NM_201384.3(PLEC):c.4045-4A>G rs7002152 0.29962
NM_201384.3(PLEC):c.8495G>A (p.Arg2832His) rs6558407 0.29956
NM_201384.3(PLEC):c.3757-6A>G rs11136333 0.29944
NM_201384.3(PLEC):c.6441G>A (p.Ala2147=) rs7016416 0.29943
NM_201384.3(PLEC):c.3550T>C (p.Leu1184=) rs3135109 0.29936
NM_201384.3(PLEC):c.3840+48A>G rs11782890 0.29923
NM_201384.3(PLEC):c.3746G>A (p.Arg1249Gln) rs11136334 0.29922
NM_201384.3(PLEC):c.4680G>A (p.Ala1560=) rs55836855 0.29922
NM_201384.3(PLEC):c.7581A>C (p.Ala2527=) rs11778026 0.29910
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val) rs7002002 0.29901
NM_201384.3(PLEC):c.7426-35C>T rs11786903 0.29882
NM_201384.3(PLEC):c.8253C>T (p.Asn2751=) rs11777402 0.29844
NM_201384.3(PLEC):c.4455T>G (p.Ala1485=) rs56117011 0.29823
NM_201384.3(PLEC):c.5928G>A (p.Ala1976=) rs1140522 0.29794
NM_201384.3(PLEC):c.10665G>A (p.Thr3555=) rs6984820 0.29792
NM_201384.3(PLEC):c.7425+37C>T rs11786934 0.29669
NM_201384.3(PLEC):c.1095T>C (p.Asp365=) rs11783799 0.29245
NM_201384.3(PLEC):c.1169+43T>A rs11783772 0.29193
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=) rs55646585 0.29155
NM_201384.3(PLEC):c.1511C>T (p.Ala504Val) rs11136336 0.29153
NM_201384.3(PLEC):c.2923+37C>T rs11136335 0.28946
NM_201384.3(PLEC):c.2740-45G>T rs11993782 0.22902
NM_201384.3(PLEC):c.3841-18C>T rs62522552 0.14837
NM_201384.3(PLEC):c.3757-9A>G rs57461687 0.14687
NM_201384.3(PLEC):c.9777T>A (p.Ser3259=) rs34644439 0.09690
NM_201384.3(PLEC):c.3261-13G>A rs11991798 0.08644
NM_201384.3(PLEC):c.12561C>T (p.Asp4187=) rs11998271 0.08588
NM_201384.3(PLEC):c.9073G>A (p.Val3025Ile) rs35027700 0.07759
NM_201384.3(PLEC):c.8820C>G (p.Asp2940Glu) rs58308209 0.07595
NM_201384.3(PLEC):c.3378G>A (p.Glu1126=) rs11991764 0.07344
NM_201384.3(PLEC):c.10920C>T (p.Tyr3640=) rs28455570 0.07092
NM_201384.3(PLEC):c.4644G>A (p.Ala1548=) rs62642470 0.06519
NM_201384.3(PLEC):c.2658G>A (p.Leu886=) rs78012434 0.06211
NM_201384.3(PLEC):c.8319C>T (p.Ala2773=) rs34534853 0.05909
NM_201384.3(PLEC):c.265-16C>G rs11993492 0.05821
NM_201384.3(PLEC):c.7726C>T (p.Leu2576=) rs11988293 0.05812
NM_201384.3(PLEC):c.5865G>A (p.Ala1955=) rs62642469 0.05798
NM_201384.3(PLEC):c.7878G>A (p.Leu2626=) rs34803322 0.05741
NM_201384.3(PLEC):c.9101C>T (p.Ala3034Val) rs35858667 0.05256
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=) rs35139934 0.05241
NM_201384.3(PLEC):c.2613-7C>A rs11990994 0.04852
NM_201384.3(PLEC):c.3717C>T (p.Ala1239=) rs112173070 0.04668
NM_201384.3(PLEC):c.11601C>T (p.Asp3867=) rs75833626 0.04561
NM_201384.3(PLEC):c.*19C>T rs11997227 0.04358
NM_201384.3(PLEC):c.10014C>T (p.Val3338=) rs35775257 0.04275
NM_201384.3(PLEC):c.5583G>A (p.Ala1861=) rs75586449 0.03960
NM_201384.3(PLEC):c.11089C>T (p.Leu3697=) rs17062686 0.03808
NM_201384.3(PLEC):c.718+10C>T rs12545876 0.03717
NM_201384.3(PLEC):c.11599G>C (p.Asp3867His) rs62642465 0.03714
NM_201384.3(PLEC):c.6314C>T (p.Ala2105Val) rs74772299 0.03697
NM_201384.3(PLEC):c.11913G>A (p.Ala3971=) rs73715559 0.03658
NM_201384.3(PLEC):c.2548G>A (p.Ala850Thr) rs58836306 0.03656
NM_201384.3(PLEC):c.5229G>A (p.Ala1743=) rs140406501 0.02486
NM_201384.3(PLEC):c.10046C>T (p.Thr3349Met) rs34725742 0.02357
NM_201384.3(PLEC):c.5316G>A (p.Ala1772=) rs62642466 0.02329
NM_201384.3(PLEC):c.8050C>T (p.Arg2684Trp) rs35723243 0.02185
NM_201384.3(PLEC):c.342+13G>A rs115664009 0.01917
NM_201384.3(PLEC):c.9945C>T (p.Ser3315=) rs28657061 0.01636
NM_201384.3(PLEC):c.6741C>T (p.Ile2247=) rs62641755 0.01627
NM_000445.5(PLEC):c.-7+15G>T rs28364664 0.01596
NM_201384.3(PLEC):c.1706G>A (p.Arg569Gln) rs3135103 0.01472
NM_201384.3(PLEC):c.13205C>T (p.Thr4402Met) rs113513807 0.01455
NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln) rs28526657 0.01433
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=) rs79705634 0.01389
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=) rs28610521 0.01376
NM_201384.3(PLEC):c.7110C>T (p.Ala2370=) rs80143277 0.01298
NM_201384.3(PLEC):c.2217G>A (p.Gln739=) rs116612406 0.01288
NM_201384.3(PLEC):c.1374C>T (p.Thr458=) rs115081018 0.01267
NM_201384.3(PLEC):c.2305-10del rs142120912 0.01228
NM_201384.3(PLEC):c.7266C>T (p.Leu2422=) rs117306121 0.01118
NM_201384.3(PLEC):c.3192C>T (p.Arg1064=) rs73377210 0.01114
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln) rs147838690 0.01083
NM_201384.3(PLEC):c.10058G>C (p.Gly3353Ala) rs35261863 0.01065
NM_201384.3(PLEC):c.10986C>T (p.Thr3662=) rs35134741 0.00977
NM_201384.3(PLEC):c.2832C>T (p.Gly944=) rs145050858 0.00969
NM_201384.3(PLEC):c.12360G>A (p.Pro4120=) rs146781600 0.00943
NM_201384.3(PLEC):c.887G>A (p.Arg296Gln) rs138924815 0.00931
NM_201384.3(PLEC):c.8489A>G (p.Tyr2830Cys) rs199720608 0.00920
NM_201384.3(PLEC):c.1752C>T (p.Pro584=) rs185978075 0.00852
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met) rs78461695 0.00787
NM_201384.3(PLEC):c.4635G>A (p.Ala1545=) rs76426116 0.00714
NM_201378.4(PLEC):c.71-11718C>T rs190222339 0.00708
NM_201384.3(PLEC):c.9435C>T (p.Asp3145=) rs60091617 0.00708
NM_201384.3(PLEC):c.11940C>T (p.Ile3980=) rs148865812 0.00674
NM_201384.3(PLEC):c.7260G>A (p.Thr2420=) rs34490562 0.00668
NM_201384.3(PLEC):c.3756+32G>A rs199878792 0.00659
NM_201384.3(PLEC):c.9966C>T (p.Val3322=) rs35613096 0.00651
NM_201384.3(PLEC):c.4223C>T (p.Ala1408Val) rs111851716 0.00648
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=) rs187810163 0.00617
NM_201384.3(PLEC):c.2961C>T (p.Ser987=) rs149932255 0.00603
NM_201384.3(PLEC):c.4854C>T (p.Ala1618=) rs7011480 0.00578
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) rs34132016 0.00569
NM_201384.3(PLEC):c.175-6C>T rs377389860 0.00541
NM_201384.3(PLEC):c.3351C>T (p.Ala1117=) rs145376880 0.00513
NM_201384.3(PLEC):c.1629G>T (p.Glu543Asp) rs201164522 0.00508
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys) rs77303974 0.00503
NM_000445.5(PLEC):c.26G>A (p.Arg9Gln) rs138978753 0.00470
NM_201384.3(PLEC):c.13248G>A (p.Thr4416=) rs115621402 0.00455
NM_201384.3(PLEC):c.5165C>T (p.Thr1722Met) rs377665141 0.00440
NM_201384.3(PLEC):c.854G>A (p.Arg285Gln) rs188076386 0.00439
NM_201384.3(PLEC):c.4366G>A (p.Val1456Met) rs186848953 0.00427
NM_201384.3(PLEC):c.9423C>T (p.Gly3141=) rs61529674 0.00421
NM_201384.3(PLEC):c.13402G>A (p.Ala4468Thr) rs112322162 0.00409
NM_201384.3(PLEC):c.5712C>T (p.Ser1904=) rs115735672 0.00404
NM_201384.3(PLEC):c.7074G>A (p.Ala2358=) rs146381488 0.00404
NM_201384.3(PLEC):c.3682C>T (p.Arg1228Trp) rs144610086 0.00403
NM_201384.3(PLEC):c.6757G>A (p.Ala2253Thr) rs62641756 0.00401
NM_201384.3(PLEC):c.5304G>A (p.Leu1768=) rs186670912 0.00400
NM_201384.3(PLEC):c.6513G>A (p.Lys2171=) rs184102912 0.00374
NM_201384.3(PLEC):c.9895C>T (p.Arg3299Trp) rs142805337 0.00374
NM_201384.3(PLEC):c.10338C>T (p.Ser3446=) rs62642461 0.00361
NM_201384.3(PLEC):c.7880C>G (p.Pro2627Arg) rs184879368 0.00330
NM_201384.3(PLEC):c.8445T>C (p.Val2815=) rs371421350 0.00329
NM_201384.3(PLEC):c.10759C>T (p.Leu3587=) rs200006106 0.00326
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp) rs200575795 0.00326
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr) rs193257576 0.00321
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys) rs2857824 0.00301
NM_201384.3(PLEC):c.9718G>A (p.Glu3240Lys) rs75857070 0.00263
NM_201384.3(PLEC):c.1956C>T (p.Thr652=) rs201835507 0.00247
NM_201384.3(PLEC):c.602+12C>T rs184306103 0.00235
NM_201384.3(PLEC):c.3778C>G (p.Arg1260Gly) rs151022876 0.00230
NM_201384.3(PLEC):c.12642C>T (p.Ile4214=) rs111227648 0.00226
NM_201384.3(PLEC):c.11994C>T (p.Pro3998=) rs113137721 0.00225
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=) rs376365984 0.00218
NM_201384.3(PLEC):c.5653G>A (p.Ala1885Thr) rs201070741 0.00200
NM_201384.3(PLEC):c.4873G>A (p.Glu1625Lys) rs187338487 0.00183
NM_201384.3(PLEC):c.3171G>A (p.Ser1057=) rs371271326 0.00174
NM_201384.3(PLEC):c.1042-4A>G rs112966803 0.00171
NM_201384.3(PLEC):c.11443G>C (p.Gly3815Arg) rs200927137 0.00168
NM_201384.3(PLEC):c.5493G>A (p.Ala1831=) rs201218437 0.00168
NM_201384.3(PLEC):c.10497C>T (p.Asn3499=) rs113113366 0.00160
NM_201384.3(PLEC):c.1955C>T (p.Thr652Ile) rs190470017 0.00158
NM_201384.3(PLEC):c.3210G>A (p.Thr1070=) rs375699173 0.00158
NM_201384.3(PLEC):c.6507G>A (p.Lys2169=) rs199866902 0.00157
NM_201384.3(PLEC):c.6198G>T (p.Gln2066His) rs201574539 0.00155
NM_201384.3(PLEC):c.2237G>A (p.Arg746His) rs200887085 0.00153
NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln) rs200239963 0.00153
NM_201384.3(PLEC):c.9351C>T (p.Phe3117=) rs200895343 0.00153
NM_201384.3(PLEC):c.3543C>T (p.Val1181=) rs202185399 0.00150
NM_201384.3(PLEC):c.7425+16C>T rs138961280 0.00149
NM_201384.3(PLEC):c.8625C>T (p.Pro2875=) rs183401234 0.00149
NM_201384.3(PLEC):c.12817C>T (p.Pro4273Ser) rs202040785 0.00146
NM_201384.3(PLEC):c.8509G>A (p.Glu2837Lys) rs199661077 0.00146
NM_201384.3(PLEC):c.1824C>T (p.Ser608=) rs201927593 0.00144
NM_201384.3(PLEC):c.6408G>A (p.Glu2136=) rs200444977 0.00144
NM_201384.3(PLEC):c.8660A>G (p.Lys2887Arg) rs201655861 0.00141
NM_201384.3(PLEC):c.9408C>T (p.Ala3136=) rs77006429 0.00138
NM_201384.3(PLEC):c.174+10del rs528031000 0.00134
NM_201384.3(PLEC):c.11524G>A (p.Glu3842Lys) rs187011732 0.00132
NM_201384.3(PLEC):c.12876G>A (p.Val4292=) rs199509259 0.00129
NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys) rs200898220 0.00123
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=) rs188739870 0.00120
NM_201384.3(PLEC):c.10260C>T (p.Pro3420=) rs62642463 0.00119
NM_201384.3(PLEC):c.3885G>A (p.Pro1295=) rs148465219 0.00118
NM_201384.3(PLEC):c.8201C>T (p.Ala2734Val) rs200202579 0.00118
NM_201384.3(PLEC):c.12784G>A (p.Val4262Ile) rs142946078 0.00117
NM_201384.3(PLEC):c.12628G>A (p.Ala4210Thr) rs199941693 0.00114
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu) rs182120395 0.00112
NM_201384.3(PLEC):c.4230C>T (p.Asp1410=) rs111282136 0.00110
NM_201384.3(PLEC):c.602+5A>G rs200744982 0.00110
NM_201378.4(PLEC):c.71-11512C>T rs201053471 0.00108
NM_201384.3(PLEC):c.6438G>A (p.Ala2146=) rs374211586 0.00108
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr) rs376665854 0.00107
NM_201384.3(PLEC):c.2844C>T (p.Pro948=) rs200482255 0.00105
NM_201384.3(PLEC):c.10203C>T (p.Pro3401=) rs201096903 0.00104
NM_201384.3(PLEC):c.4980C>T (p.Ala1660=) rs199612329 0.00101
NM_201384.3(PLEC):c.9633G>A (p.Pro3211=) rs199870482 0.00098
NM_201378.4(PLEC):c.71-11599T>C rs201910266 0.00096
NM_201384.3(PLEC):c.11611G>A (p.Gly3871Ser) rs201419047 0.00094
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=) rs144242254 0.00093
NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly) rs187648086 0.00089
NM_201384.3(PLEC):c.2508G>A (p.Pro836=) rs116385960 0.00086
NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu) rs146685404 0.00086
NM_201384.3(PLEC):c.6456G>A (p.Ala2152=) rs201072292 0.00086
NM_201384.3(PLEC):c.4860C>T (p.Ala1620=) rs144880376 0.00085
NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val) rs542642242 0.00084
NM_201384.3(PLEC):c.2083-20C>T rs374681191 0.00083
NM_201384.3(PLEC):c.10566G>A (p.Thr3522=) rs200741156 0.00082
NM_201384.3(PLEC):c.2083-19G>A rs369475484 0.00081
NM_201384.3(PLEC):c.6311C>T (p.Ala2104Val) rs201959200 0.00081
NM_201384.3(PLEC):c.8331C>T (p.Tyr2777=) rs141673192 0.00081
NM_201384.3(PLEC):c.8976C>T (p.Ile2992=) rs375914011 0.00077
NM_201384.3(PLEC):c.8182A>G (p.Ile2728Val) rs200061415 0.00076
NM_201384.3(PLEC):c.2263G>A (p.Ala755Thr) rs200173947 0.00074
NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys) rs200206105 0.00073
NM_201384.3(PLEC):c.2642C>T (p.Thr881Met) rs200611519 0.00073
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg) rs201667254 0.00072
NM_201384.3(PLEC):c.11208G>A (p.Pro3736=) rs200273549 0.00069
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln) rs370569372 0.00064
NM_201384.3(PLEC):c.5065C>T (p.Leu1689=) rs371126082 0.00063
NM_201384.3(PLEC):c.7951C>T (p.Arg2651Trp) rs145977158 0.00062
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser) rs201820569 0.00059
NM_201378.4(PLEC):c.71-11923G>A rs200842821 0.00056
NM_201384.3(PLEC):c.11594G>A (p.Arg3865His) rs200722246 0.00055
NM_201384.3(PLEC):c.6021G>A (p.Ala2007=) rs200338935 0.00053
NM_201384.3(PLEC):c.8040C>T (p.Asp2680=) rs373341589 0.00053
NM_201384.3(PLEC):c.11539G>A (p.Val3847Met) rs201654895 0.00051
NM_201384.3(PLEC):c.10509G>A (p.Ala3503=) rs189859084 0.00049
NM_201384.3(PLEC):c.6300G>A (p.Ala2100=) rs188154081 0.00048
NM_201384.3(PLEC):c.963C>T (p.Phe321=) rs368425406 0.00048
NM_201384.3(PLEC):c.921C>T (p.Phe307=) rs546380802 0.00047
NM_201384.3(PLEC):c.5862C>T (p.Asn1954=) rs550994317 0.00044
NM_201384.3(PLEC):c.12615C>T (p.Ile4205=) rs202116866 0.00043
NM_201384.3(PLEC):c.10498C>T (p.Arg3500Cys) rs200541837 0.00041
NM_201384.3(PLEC):c.5028C>T (p.Arg1676=) rs200727084 0.00041
NM_201384.3(PLEC):c.3733C>A (p.Arg1245=) rs367688739 0.00038
NM_201384.3(PLEC):c.5673C>T (p.Ile1891=) rs191863619 0.00036
NM_201384.3(PLEC):c.6266C>T (p.Ala2089Val) rs782278608 0.00036
NM_201384.3(PLEC):c.6162C>T (p.His2054=) rs563719398 0.00034
NM_201384.3(PLEC):c.8315G>A (p.Arg2772His) rs201916690 0.00033
NM_201384.3(PLEC):c.9186C>T (p.Ala3062=) rs377371180 0.00033
NM_201384.3(PLEC):c.10105G>T (p.Val3369Leu) rs201373953 0.00032
NM_201384.3(PLEC):c.5346C>T (p.Ser1782=) rs782138988 0.00031
NM_201384.3(PLEC):c.174+10G>A rs181850748 0.00030
NM_201384.3(PLEC):c.4521C>T (p.Ser1507=) rs372986812 0.00030
NM_201384.3(PLEC):c.1977+7G>A rs184363750 0.00029
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=) rs370168097 0.00029
NM_201378.4(PLEC):c.71-11768C>T rs200878086 0.00028
NM_201384.3(PLEC):c.8845C>T (p.Arg2949Trp) rs202241157 0.00026
NM_201384.3(PLEC):c.2541C>T (p.Ser847=) rs374688294 0.00025
NM_201384.3(PLEC):c.4221G>A (p.Ala1407=) rs185790521 0.00025
NM_201384.3(PLEC):c.4843C>G (p.Gln1615Glu) rs782766351 0.00024
NM_201384.3(PLEC):c.7061C>T (p.Ala2354Val) rs370003608 0.00024
NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys) rs372256096 0.00022
NM_201384.3(PLEC):c.2140A>G (p.Ile714Val) rs189137260 0.00021
NM_201384.3(PLEC):c.4101C>T (p.Ala1367=) rs376065732 0.00021
NM_201384.3(PLEC):c.9929C>T (p.Ala3310Val) rs183230983 0.00021
NM_201384.3(PLEC):c.2785C>T (p.Leu929=) rs369676162 0.00020
NM_201384.3(PLEC):c.8316C>T (p.Arg2772=) rs782420340 0.00019
NM_201384.3(PLEC):c.8742C>T (p.Phe2914=) rs201211875 0.00019
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met) rs201855218 0.00018
NM_201384.3(PLEC):c.6756C>T (p.Arg2252=) rs372201917 0.00018
NM_201384.3(PLEC):c.4560C>T (p.Arg1520=) rs782412831 0.00017
NM_201384.3(PLEC):c.6492C>T (p.Asp2164=) rs575031901 0.00017
NM_201384.3(PLEC):c.801C>T (p.Asp267=) rs202218097 0.00017
NM_201384.3(PLEC):c.9027C>T (p.Asp3009=) rs782802729 0.00017
NM_201384.3(PLEC):c.12064C>T (p.Leu4022Phe) rs189061273 0.00016
NM_201384.3(PLEC):c.4446G>A (p.Ala1482=) rs782202249 0.00016
NM_201384.3(PLEC):c.7369C>T (p.Arg2457Cys) rs200652637 0.00016
NM_000445.5(PLEC):c.38A>C (p.Glu13Ala) rs370431965 0.00015
NM_201384.3(PLEC):c.3279G>A (p.Leu1093=) rs371818099 0.00015
NM_201384.3(PLEC):c.5652C>T (p.Ala1884=) rs375064227 0.00015
NM_201384.3(PLEC):c.11828C>A (p.Thr3943Asn) rs143553082 0.00014
NM_201384.3(PLEC):c.13242C>T (p.Arg4414=) rs200589588 0.00014
NM_201384.3(PLEC):c.3286C>T (p.Arg1096Cys) rs533410461 0.00014
NM_201384.3(PLEC):c.5443C>T (p.Arg1815Trp) rs398123400 0.00014
NM_201384.3(PLEC):c.6424G>A (p.Ala2142Thr) rs370942881 0.00014
NM_201384.3(PLEC):c.6786G>A (p.Thr2262=) rs373922545 0.00014
NM_201384.3(PLEC):c.772C>T (p.Leu258=) rs372233686 0.00014
NM_201384.3(PLEC):c.8727C>T (p.Thr2909=) rs370129235 0.00014
NM_201384.3(PLEC):c.3840+14G>A rs200230391 0.00013
NM_201384.3(PLEC):c.6096G>C (p.Ser2032=) rs564245730 0.00013
NM_201384.3(PLEC):c.10130G>A (p.Arg3377Gln) rs375724891 0.00012
NM_201384.3(PLEC):c.1737+17G>A rs367803033 0.00012
NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp) rs201278290 0.00012
NM_201384.3(PLEC):c.6510T>C (p.His2170=) rs375106164 0.00012
NM_201384.3(PLEC):c.12027C>T (p.Arg4009=) rs762178584 0.00011
NM_201384.3(PLEC):c.13471A>G (p.Thr4491Ala) rs782756146 0.00011
NM_201384.3(PLEC):c.2064G>A (p.Pro688=) rs374590279 0.00011
NM_201384.3(PLEC):c.2165C>T (p.Ala722Val) rs375178454 0.00011
NM_201384.3(PLEC):c.2304+12G>A rs200251264 0.00011
NM_201384.3(PLEC):c.5825C>T (p.Ala1942Val) rs372179538 0.00011
NM_201384.3(PLEC):c.5941C>T (p.Arg1981Trp) rs962321651 0.00011
NM_201384.3(PLEC):c.6240C>T (p.Arg2080=) rs576688705 0.00011
NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr) rs200618217 0.00011
NM_201384.3(PLEC):c.8912G>A (p.Arg2971Gln) rs552713184 0.00011
NM_201384.3(PLEC):c.10791C>T (p.Pro3597=) rs537994918 0.00010
NM_201384.3(PLEC):c.11094C>T (p.Pro3698=) rs374177544 0.00010
NM_201384.3(PLEC):c.12390G>A (p.Thr4130=) rs200575172 0.00010
NM_201384.3(PLEC):c.12597C>T (p.Ser4199=) rs368889216 0.00010
NM_201384.3(PLEC):c.13636G>A (p.Val4546Met) rs573424409 0.00010
NM_201384.3(PLEC):c.1815+10G>A rs398123396 0.00010
NM_201384.3(PLEC):c.2458-7G>A rs372799330 0.00010
NM_201384.3(PLEC):c.3227A>G (p.Gln1076Arg) rs576369528 0.00010
NM_201384.3(PLEC):c.6084G>A (p.Ala2028=) rs528306324 0.00010
NM_201384.3(PLEC):c.10157C>T (p.Ala3386Val) rs532234200 0.00009
NM_201384.3(PLEC):c.10728C>T (p.Gly3576=) rs372840016 0.00009
NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr) rs369497741 0.00009
NM_201384.3(PLEC):c.11288C>T (p.Ser3763Leu) rs377598440 0.00009
NM_201384.3(PLEC):c.11418C>T (p.Thr3806=) rs559510708 0.00009
NM_201384.3(PLEC):c.12285G>A (p.Thr4095=) rs200145450 0.00009
NM_201384.3(PLEC):c.12564C>T (p.Gly4188=) rs140191309 0.00009
NM_201384.3(PLEC):c.12720C>T (p.Ala4240=) rs377625103 0.00009
NM_201384.3(PLEC):c.5414G>A (p.Arg1805His) rs782438887 0.00009
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val) rs781878105 0.00009
NM_201384.3(PLEC):c.9167C>A (p.Ala3056Asp) rs373831849 0.00009
NM_201384.3(PLEC):c.10473C>T (p.Arg3491=) rs112569051 0.00008
NM_201384.3(PLEC):c.1506G>C (p.Gln502His) rs571497788 0.00008
NM_201384.3(PLEC):c.1650C>T (p.Ser550=) rs541271992 0.00008
NM_201384.3(PLEC):c.4978G>A (p.Ala1660Thr) rs781997708 0.00008
NM_201384.3(PLEC):c.8739G>A (p.Pro2913=) rs146153632 0.00008
NM_201384.3(PLEC):c.9516G>A (p.Ser3172=) rs782474875 0.00008
NM_201384.3(PLEC):c.12255C>T (p.Asp4085=) rs782193445 0.00007
NM_201384.3(PLEC):c.13581C>T (p.Tyr4527=) rs562934299 0.00007
NM_201384.3(PLEC):c.2178+10G>A rs781817693 0.00007
NM_201384.3(PLEC):c.2978G>A (p.Arg993Gln) rs534045685 0.00007
NM_201384.3(PLEC):c.5037G>A (p.Ala1679=) rs782627006 0.00007
NM_201384.3(PLEC):c.5508G>A (p.Ala1836=) rs782631413 0.00007
NM_201384.3(PLEC):c.8481C>T (p.Asp2827=) rs377660488 0.00007
NM_201384.3(PLEC):c.8617G>A (p.Glu2873Lys) rs377748878 0.00007
NM_201384.3(PLEC):c.10178C>T (p.Ala3393Val) rs370079447 0.00006
NM_201384.3(PLEC):c.10245G>A (p.Ala3415=) rs372914647 0.00006
NM_201384.3(PLEC):c.10697C>T (p.Ala3566Val) rs782700068 0.00006
NM_201384.3(PLEC):c.1122C>T (p.His374=) rs372270485 0.00006
NM_201384.3(PLEC):c.11328C>T (p.Thr3776=) rs558415777 0.00006
NM_201384.3(PLEC):c.11844G>A (p.Ser3948=) rs782025071 0.00006
NM_201384.3(PLEC):c.12558G>A (p.Ser4186=) rs370789200 0.00006
NM_201384.3(PLEC):c.13401C>T (p.Ala4467=) rs782114678 0.00006
NM_201384.3(PLEC):c.13469G>A (p.Arg4490His) rs782151802 0.00006
NM_201384.3(PLEC):c.1676G>A (p.Arg559Gln) rs376555091 0.00006
NM_201384.3(PLEC):c.177C>T (p.Ala59=) rs374581957 0.00006
NM_201384.3(PLEC):c.1803C>T (p.Tyr601=) rs374078214 0.00006
NM_201384.3(PLEC):c.1816-7C>G rs201141391 0.00006
NM_201384.3(PLEC):c.207C>T (p.Asp69=) rs371216758 0.00006
NM_201384.3(PLEC):c.3186G>A (p.Thr1062=) rs782437578 0.00006
NM_201384.3(PLEC):c.3915C>T (p.Val1305=) rs377758049 0.00006
NM_201384.3(PLEC):c.4134G>A (p.Ala1378=) rs558224639 0.00006
NM_201384.3(PLEC):c.5540G>A (p.Arg1847Gln) rs577374823 0.00006
NM_201384.3(PLEC):c.6059A>C (p.Glu2020Ala) rs367662560 0.00006
NM_201384.3(PLEC):c.6469C>G (p.Leu2157Val) rs558775133 0.00006
NM_201384.3(PLEC):c.6651G>A (p.Thr2217=) rs782658127 0.00006
NM_201384.3(PLEC):c.6701G>A (p.Arg2234His) rs369374252 0.00006
NM_201384.3(PLEC):c.7029G>A (p.Ala2343=) rs559198172 0.00006
NM_201384.3(PLEC):c.7034G>A (p.Arg2345Gln) rs541098488 0.00006
NM_201384.3(PLEC):c.798G>A (p.Pro266=) rs201729389 0.00006
NM_201384.3(PLEC):c.8475C>T (p.Pro2825=) rs374602421 0.00006
NM_201384.3(PLEC):c.9815G>A (p.Arg3272His) rs571590501 0.00006
NM_201378.4(PLEC):c.71-12006C>T rs782759589 0.00005
NM_201384.3(PLEC):c.10049T>C (p.Leu3350Pro) rs186417404 0.00005
NM_201384.3(PLEC):c.11438G>A (p.Arg3813His) rs782311906 0.00005
NM_201384.3(PLEC):c.11752A>G (p.Ile3918Val) rs574764116 0.00005
NM_201384.3(PLEC):c.343-19G>C rs199908161 0.00005
NM_201384.3(PLEC):c.3873G>A (p.Ala1291=) rs374669316 0.00005
NM_201384.3(PLEC):c.4326G>A (p.Ala1442=) rs369943756 0.00005
NM_201384.3(PLEC):c.4674G>A (p.Glu1558=) rs782298790 0.00005
NM_201384.3(PLEC):c.6168C>T (p.Phe2056=) rs370313601 0.00005
NM_201384.3(PLEC):c.6918C>T (p.Ala2306=) rs782163766 0.00005
NM_201384.3(PLEC):c.7485C>T (p.Phe2495=) rs542567139 0.00005
NM_201384.3(PLEC):c.9014G>A (p.Arg3005His) rs369581930 0.00005
NM_201384.3(PLEC):c.9528C>T (p.Ala3176=) rs368317567 0.00005
NM_000445.5(PLEC):c.118C>T (p.Arg40Trp) rs781877536 0.00004
NM_201378.4(PLEC):c.71-5086G>A rs372851346 0.00004
NM_201384.3(PLEC):c.10020C>T (p.Asp3340=) rs371577313 0.00004
NM_201384.3(PLEC):c.11067G>A (p.Thr3689=) rs781847790 0.00004
NM_201384.3(PLEC):c.11274C>T (p.His3758=) rs530897932 0.00004
NM_201384.3(PLEC):c.11291C>T (p.Ala3764Val) rs368803763 0.00004
NM_201384.3(PLEC):c.11604C>T (p.Asp3868=) rs375886231 0.00004
NM_201384.3(PLEC):c.11638G>A (p.Ala3880Thr) rs541209817 0.00004
NM_201384.3(PLEC):c.3045G>A (p.Pro1015=) rs368477108 0.00004
NM_201384.3(PLEC):c.3675C>T (p.Asp1225=) rs781868453 0.00004
NM_201384.3(PLEC):c.4137C>T (p.His1379=) rs782222813 0.00004
NM_201384.3(PLEC):c.4218G>A (p.Glu1406=) rs782584192 0.00004
NM_201384.3(PLEC):c.4586G>A (p.Arg1529His) rs1057520714 0.00004
NM_201384.3(PLEC):c.5847A>G (p.Gly1949=) rs1057521809 0.00004
NM_201384.3(PLEC):c.6241G>A (p.Gly2081Ser) rs782450868 0.00004
NM_201384.3(PLEC):c.6642G>A (p.Ala2214=) rs559736151 0.00004
NM_201384.3(PLEC):c.6667C>T (p.Arg2223Cys) rs200620255 0.00004
NM_201384.3(PLEC):c.8111A>C (p.Lys2704Thr) rs376577874 0.00004
NM_201384.3(PLEC):c.9023G>A (p.Arg3008Gln) rs200176579 0.00004
NM_201384.3(PLEC):c.9918C>T (p.Ser3306=) rs112205689 0.00004
NM_201378.4(PLEC):c.71-5101C>T rs782610872 0.00003
NM_201384.3(PLEC):c.10802G>A (p.Arg3601Gln) rs369570610 0.00003
NM_201384.3(PLEC):c.13263C>T (p.Thr4421=) rs369202116 0.00003
NM_201384.3(PLEC):c.13444G>A (p.Gly4482Ser) rs373807877 0.00003
NM_201384.3(PLEC):c.13575G>A (p.Ser4525=) rs549882307 0.00003
NM_201384.3(PLEC):c.2082+15G>T rs782684733 0.00003
NM_201384.3(PLEC):c.2739+19C>T rs528054194 0.00003
NM_201384.3(PLEC):c.3191G>A (p.Arg1064His) rs571362398 0.00003
NM_201384.3(PLEC):c.3407G>A (p.Arg1136Gln) rs782508056 0.00003
NM_201384.3(PLEC):c.3585C>T (p.Thr1195=) rs782335843 0.00003
NM_201384.3(PLEC):c.4083G>A (p.Arg1361=) rs377619355 0.00003
NM_201384.3(PLEC):c.5549C>T (p.Thr1850Met) rs534267486 0.00003
NM_201384.3(PLEC):c.6018G>A (p.Ala2006=) rs782381723 0.00003
NM_201384.3(PLEC):c.602+17G>A rs371443910 0.00003
NM_201384.3(PLEC):c.6074G>A (p.Arg2025Gln) rs546512137 0.00003
NM_201384.3(PLEC):c.6313G>A (p.Ala2105Thr) rs781931836 0.00003
NM_201384.3(PLEC):c.6618C>T (p.Asp2206=) rs200658318 0.00003
NM_201384.3(PLEC):c.678G>A (p.Ala226=) rs782369854 0.00003
NM_201384.3(PLEC):c.7639C>T (p.Arg2547Trp) rs782242954 0.00003
NM_201384.3(PLEC):c.826-19C>T rs962403684 0.00003
NM_201384.3(PLEC):c.9755C>T (p.Thr3252Met) rs781828296 0.00003
NM_201384.3(PLEC):c.11140C>T (p.Leu3714=) rs782635357 0.00002
NM_201384.3(PLEC):c.11157G>A (p.Val3719=) rs781902568 0.00002
NM_201384.3(PLEC):c.12030C>T (p.Ala4010=) rs372023641 0.00002
NM_201384.3(PLEC):c.2547C>T (p.Ala849=) rs770364460 0.00002
NM_201384.3(PLEC):c.3141C>T (p.Ala1047=) rs782511217 0.00002
NM_201384.3(PLEC):c.3787G>A (p.Glu1263Lys) rs377125427 0.00002
NM_201384.3(PLEC):c.394C>T (p.Leu132=) rs372380314 0.00002
NM_201384.3(PLEC):c.6546G>A (p.Ala2182=) rs372009035 0.00002
NM_201384.3(PLEC):c.6744G>A (p.Glu2248=) rs543681854 0.00002
NM_201384.3(PLEC):c.6790C>T (p.Arg2264Cys) rs371749261 0.00002
NM_000445.5(PLEC):c.158T>C (p.Leu53Pro) rs781861668 0.00001
NM_201384.3(PLEC):c.10248C>T (p.Gly3416=) rs200805625 0.00001
NM_201384.3(PLEC):c.10286C>T (p.Ala3429Val) rs782556459 0.00001
NM_201384.3(PLEC):c.10830C>T (p.Ala3610=) rs80304210 0.00001
NM_201384.3(PLEC):c.113-14C>T rs782149514 0.00001
NM_201384.3(PLEC):c.11562C>T (p.Arg3854=) rs781931763 0.00001
NM_201384.3(PLEC):c.11751C>T (p.Ser3917=) rs782402718 0.00001
NM_201384.3(PLEC):c.11958G>A (p.Thr3986=) rs782448637 0.00001
NM_201384.3(PLEC):c.12075C>T (p.Leu4025=) rs782130507 0.00001
NM_201384.3(PLEC):c.12383G>A (p.Arg4128Gln) rs533757341 0.00001
NM_201384.3(PLEC):c.12549C>T (p.Ile4183=) rs199512865 0.00001
NM_201384.3(PLEC):c.13305C>T (p.Leu4435=) rs375059618 0.00001
NM_201384.3(PLEC):c.3261-17C>T rs782086377 0.00001
NM_201384.3(PLEC):c.343-8G>A rs539256971 0.00001
NM_201384.3(PLEC):c.3623A>C (p.Gln1208Pro) rs1441764984 0.00001
NM_201384.3(PLEC):c.3638G>A (p.Arg1213His) rs782011338 0.00001
NM_201384.3(PLEC):c.3734G>A (p.Arg1245Gln) rs376541112 0.00001
NM_201384.3(PLEC):c.3766G>C (p.Glu1256Gln) rs1384763800 0.00001
NM_201384.3(PLEC):c.3970A>C (p.Ser1324Arg) rs782377096 0.00001
NM_201384.3(PLEC):c.4117C>T (p.Arg1373Trp) rs782378494 0.00001
NM_201384.3(PLEC):c.4220C>T (p.Ala1407Val) rs548430154 0.00001
NM_201384.3(PLEC):c.4346G>A (p.Arg1449His) rs561225406 0.00001
NM_201384.3(PLEC):c.465G>A (p.Ser155=) rs398123399 0.00001
NM_201384.3(PLEC):c.5053C>T (p.Arg1685Trp) rs781802082 0.00001
NM_201384.3(PLEC):c.5125C>T (p.Leu1709=) rs782806689 0.00001
NM_201384.3(PLEC):c.588C>T (p.Ile196=) rs782030366 0.00001
NM_201384.3(PLEC):c.6039G>C (p.Arg2013=) rs781907706 0.00001
NM_201384.3(PLEC):c.6468C>T (p.Ala2156=) rs782284647 0.00001
NM_201384.3(PLEC):c.6845G>A (p.Arg2282Gln) rs782316711 0.00001
NM_201384.3(PLEC):c.7161G>A (p.Leu2387=) rs781982762 0.00001
NM_201384.3(PLEC):c.7455G>T (p.Leu2485=) rs781873617 0.00001
NM_201384.3(PLEC):c.7506G>A (p.Leu2502=) rs187725817 0.00001
NM_201384.3(PLEC):c.8066G>A (p.Arg2689His) rs782161008 0.00001
NM_201384.3(PLEC):c.8175G>A (p.Thr2725=) rs1209777415 0.00001
NM_201384.3(PLEC):c.8202G>A (p.Ala2734=) rs782252692 0.00001
NM_201384.3(PLEC):c.8877C>A (p.Ile2959=) rs573682644 0.00001
NM_201384.3(PLEC):c.9130C>T (p.Leu3044=) rs782038680 0.00001
NM_201384.3(PLEC):c.9211G>A (p.Ala3071Thr) rs782624968 0.00001
NM_201384.3(PLEC):c.9713C>T (p.Pro3238Leu) rs782085661 0.00001
NM_201384.3(PLEC):c.9714G>A (p.Pro3238=) rs781935607 0.00001
NM_201384.3(PLEC):c.9960C>T (p.Ser3320=) rs146406979 0.00001
NM_000445.5(PLEC):c.-6-18dup rs782061673
NM_000445.5(PLEC):c.-6-35A>T rs1554745789
NM_000445.5(PLEC):c.50A>G (p.Asn17Ser) rs1554745695
NM_201378.4(PLEC):c.71-11623C>T rs560175252
NM_201378.4(PLEC):c.71-5077G>T rs73377225
NM_201384.3(PLEC):c.10017G>A (p.Lys3339=) rs782539268
NM_201384.3(PLEC):c.10168G>A (p.Glu3390Lys) rs1554678927
NM_201384.3(PLEC):c.10296C>A (p.Ala3432=) rs201848957
NM_201384.3(PLEC):c.10296C>T (p.Ala3432=) rs201848957
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=) rs6992333
NM_201384.3(PLEC):c.11283G>C (p.Leu3761=) rs1554675599
NM_201384.3(PLEC):c.11343G>A (p.Ser3781=) rs376719872
NM_201384.3(PLEC):c.11496C>T (p.Asp3832=) rs1406559017
NM_201384.3(PLEC):c.1191C>A (p.Ile397=) rs781888321
NM_201384.3(PLEC):c.1200G>A (p.Lys400=) rs1554720138
NM_201384.3(PLEC):c.12243C>T (p.Thr4081=) rs185022156
NM_201384.3(PLEC):c.12267C>T (p.Gly4089=) rs554609148
NM_201384.3(PLEC):c.12384G>T (p.Arg4128=) rs1554672078
NM_201384.3(PLEC):c.13287C>A (p.Gly4429=) rs782581005
NM_201384.3(PLEC):c.13347G>A (p.Ala4449=) rs368660987
NM_201384.3(PLEC):c.1454G>T (p.Arg485Leu) rs200328762
NM_201384.3(PLEC):c.1737+11C>G
NM_201384.3(PLEC):c.174+22G>C rs7823393
NM_201384.3(PLEC):c.1882G>A (p.Glu628Lys) rs1554717101
NM_201384.3(PLEC):c.2178+18C>T rs1554715857
NM_201384.3(PLEC):c.2178+9C>G rs114256617
NM_201384.3(PLEC):c.2178+9C>T rs114256617
NM_201384.3(PLEC):c.2304+9dup rs35671527
NM_201384.3(PLEC):c.2613-19T>A rs200549149
NM_201384.3(PLEC):c.264+4C>T rs369467661
NM_201384.3(PLEC):c.2852G>C (p.Arg951Pro) rs782775290
NM_201384.3(PLEC):c.2962G>C (p.Glu988Gln) rs367627441
NM_201384.3(PLEC):c.3028_3033dup (p.Pro1010_Leu1011dup) rs782308502
NM_201384.3(PLEC):c.3301_3302delinsTT (p.Ala1101Phe) rs2131627729
NM_201384.3(PLEC):c.3384C>T (p.Thr1128=) rs782032897
NM_201384.3(PLEC):c.3442G>T (p.Ala1148Ser) rs370869846
NM_201384.3(PLEC):c.3745C>A (p.Arg1249=) rs201552166
NM_201384.3(PLEC):c.3746_3747delinsAA (p.Arg1249Gln) rs797044698
NM_201384.3(PLEC):c.3757-9_3757-6delinsCATCG rs1064794525
NM_201384.3(PLEC):c.378T>C (p.Ala126=) rs6993938
NM_201384.3(PLEC):c.378T>G (p.Ala126=) rs6993938
NM_201384.3(PLEC):c.4169C>T (p.Ala1390Val) rs781873089
NM_201384.3(PLEC):c.4598G>A (p.Arg1533Gln) rs201430180
NM_201384.3(PLEC):c.472A>G (p.Met158Val) rs1554722990
NM_201384.3(PLEC):c.4758C>T (p.Ala1586=) rs782073897
NM_201384.3(PLEC):c.5082G>A (p.Leu1694=) rs182961574
NM_201384.3(PLEC):c.5082G>C (p.Leu1694=) rs182961574
NM_201384.3(PLEC):c.5329_5330inv (p.Glu1777Ser)
NM_201384.3(PLEC):c.5722C>T (p.Arg1908Trp)
NM_201384.3(PLEC):c.5922G>C (p.Gln1974His) rs202190540
NM_201384.3(PLEC):c.6039G>A (p.Arg2013=) rs781907706
NM_201384.3(PLEC):c.6318G>A (p.Gln2106=) rs556328818
NM_201384.3(PLEC):c.7097G>A (p.Arg2366Gln) rs576252504
NM_201384.3(PLEC):c.711C>T (p.Asp237=) rs782815676
NM_201384.3(PLEC):c.719-20T>G rs1057522823
NM_201384.3(PLEC):c.729C>T (p.Val243=) rs573371265
NM_201384.3(PLEC):c.7468G>C (p.Ala2490Pro) rs1554689498
NM_201384.3(PLEC):c.7537_7538delinsGC (p.Lys2513Ala) rs1554689196
NM_201384.3(PLEC):c.7915G>C (p.Glu2639Gln) rs782614096
NM_201384.3(PLEC):c.7944C>T (p.Gly2648=) rs1057522505
NM_201384.3(PLEC):c.804G>A (p.Val268=) rs1554721745
NM_201384.3(PLEC):c.8310C>G (p.Ala2770=) rs782338339
NM_201384.3(PLEC):c.8430C>G (p.Ile2810Met) rs62641758
NM_201384.3(PLEC):c.8445T>A (p.Val2815=) rs371421350
NM_201384.3(PLEC):c.8532G>C (p.Ala2844=) rs782732824
NM_201384.3(PLEC):c.8593C>G (p.Leu2865Val) rs201422698
NM_201384.3(PLEC):c.8730G>A (p.Val2910=) rs576988252
NM_201384.3(PLEC):c.8948C>T (p.Ala2983Val) rs1017632168
NM_201384.3(PLEC):c.9071A>C (p.Asn3024Thr) rs535089650
NM_201384.3(PLEC):c.9071A>G (p.Asn3024Ser) rs535089650
NM_201384.3(PLEC):c.946-33C>G rs6994460
NM_201384.3(PLEC):c.983A>C (p.Glu328Ala) rs1564148072

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