ClinVar Miner

List of variants in gene PLEC studied for Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1086
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HGVS dbSNP
NC_000008.10:g.(?_145008783)_(145018851_?)dup
NM_000445.5(PLEC):c.10006C>T (p.Arg3336Cys) rs77303974
NM_000445.5(PLEC):c.10010C>T (p.Ala3337Val) rs183230983
NM_000445.5(PLEC):c.10022C>T (p.Ala3341Val) rs370238652
NM_000445.5(PLEC):c.10026C>T (p.Ser3342=) rs28657061
NM_000445.5(PLEC):c.10027G>A (p.Glu3343Lys)
NM_000445.5(PLEC):c.10037C>T (p.Ala3346Val) rs782592296
NM_000445.5(PLEC):c.10042G>A (p.Gly3348Arg) rs34132016
NM_000445.5(PLEC):c.10047C>T (p.Val3349=) rs35613096
NM_000445.5(PLEC):c.1004C>T (p.Pro335Leu) rs781813266
NM_000445.5(PLEC):c.10065T>C (p.Phe3355=) rs373874723
NM_000445.5(PLEC):c.10088C>T (p.Thr3363Met) rs199950917
NM_000445.5(PLEC):c.10091C>T (p.Thr3364Met)
NM_000445.5(PLEC):c.10095C>T (p.Val3365=) rs35775257
NM_000445.5(PLEC):c.10106C>G (p.Ser3369Trp) rs538702691
NM_000445.5(PLEC):c.10106C>T (p.Ser3369Leu) rs538702691
NM_000445.5(PLEC):c.10114G>A (p.Gly3372Ser)
NM_000445.5(PLEC):c.10118C>G (p.Ser3373Cys) rs368616323
NM_000445.5(PLEC):c.10120G>A (p.Val3374Met) rs782748769
NM_000445.5(PLEC):c.10124G>A (p.Arg3375Gln) rs556517027
NM_000445.5(PLEC):c.10127C>T (p.Thr3376Met) rs34725742
NM_000445.5(PLEC):c.10139G>C (p.Gly3380Ala) rs35261863
NM_000445.5(PLEC):c.10146C>T (p.Gly3382=) rs782290282
NM_000445.5(PLEC):c.10149C>T (p.Cys3383=) rs782667756
NM_000445.5(PLEC):c.1014C>T (p.Phe338=) rs369363676
NM_000445.5(PLEC):c.1015G>A (p.Glu339Lys)
NM_000445.5(PLEC):c.1015G>C (p.Glu339Gln)
NM_000445.5(PLEC):c.10186G>T (p.Val3396Leu) rs201373953
NM_000445.5(PLEC):c.10211G>A (p.Arg3404Gln) rs375724891
NM_000445.5(PLEC):c.10232C>T (p.Thr3411Met)
NM_000445.5(PLEC):c.10237G>A (p.Ala3413Thr)
NM_000445.5(PLEC):c.10238C>T (p.Ala3413Val) rs532234200
NM_000445.5(PLEC):c.10259C>T (p.Ala3420Val) rs370079447
NM_000445.5(PLEC):c.10260G>A (p.Ala3420=) rs571563472
NM_000445.5(PLEC):c.10277T>C (p.Val3426Ala) rs200572137
NM_000445.5(PLEC):c.10285G>A (p.Val3429Met)
NM_000445.5(PLEC):c.10297C>T (p.Arg3433Cys) rs781882032
NM_000445.5(PLEC):c.10298G>A (p.Arg3433His) rs782495077
NM_000445.5(PLEC):c.10315G>A (p.Ala3439Thr)
NM_000445.5(PLEC):c.10326G>A (p.Ala3442=) rs372914647
NM_000445.5(PLEC):c.10341C>T (p.Pro3447=) rs62642463
NM_000445.5(PLEC):c.10367C>T (p.Ala3456Val) rs782556459
NM_000445.5(PLEC):c.10377C>A (p.Ala3459=) rs201848957
NM_000445.5(PLEC):c.10377C>T (p.Ala3459=) rs201848957
NM_000445.5(PLEC):c.10383C>A (p.Thr3461=) rs199879193
NM_000445.5(PLEC):c.10403C>T (p.Ser3468Leu) rs782569204
NM_000445.5(PLEC):c.10413C>T (p.Thr3471=) rs782488401
NM_000445.5(PLEC):c.10419C>T (p.Ser3473=) rs62642461
NM_000445.5(PLEC):c.10436A>G (p.Gln3479Arg) rs1554678355
NM_000445.5(PLEC):c.10453C>T (p.Arg3485Trp) rs571305150
NM_000445.5(PLEC):c.10462G>A (p.Gly3488Ser)
NM_000445.5(PLEC):c.10488C>A (p.Ile3496=) rs369578286
NM_000445.5(PLEC):c.10489G>A (p.Ala3497Thr) rs377602333
NM_000445.5(PLEC):c.10494G>A (p.Thr3498=) rs782728053
NM_000445.5(PLEC):c.10498G>A (p.Gly3500Ser) rs201765507
NM_000445.5(PLEC):c.10512C>T (p.Pro3504=) rs200509064
NM_000445.5(PLEC):c.10513G>A (p.Val3505Met) rs375766567
NM_000445.5(PLEC):c.10526G>A (p.Arg3509His) rs548876454
NM_000445.5(PLEC):c.10543G>A (p.Ala3515Thr) rs201390770
NM_000445.5(PLEC):c.10553G>A (p.Arg3518His)
NM_000445.5(PLEC):c.10555G>A (p.Gly3519Ser)
NM_000445.5(PLEC):c.10578C>T (p.Asn3526=) rs113113366
NM_000445.5(PLEC):c.10579C>T (p.Arg3527Cys) rs200541837
NM_000445.5(PLEC):c.10580G>A (p.Arg3527His) rs201387815
NM_000445.5(PLEC):c.10582G>A (p.Val3528Ile) rs782252148
NM_000445.5(PLEC):c.10589C>T (p.Ala3530Val)
NM_000445.5(PLEC):c.10595C>G (p.Pro3532Arg) rs1199435903
NM_000445.5(PLEC):c.10598G>C (p.Ser3533Thr)
NM_000445.5(PLEC):c.10617C>A (p.Phe3539Leu)
NM_000445.5(PLEC):c.10632G>A (p.Thr3544=) rs116901140
NM_000445.5(PLEC):c.10641C>G (p.Asn3547Lys) rs782578468
NM_000445.5(PLEC):c.10641C>T (p.Asn3547=) rs782578468
NM_000445.5(PLEC):c.10646C>T (p.Thr3549Met) rs375095764
NM_000445.5(PLEC):c.10696C>T (p.Arg3566Cys) rs201438739
NM_000445.5(PLEC):c.10711A>G (p.Lys3571Glu)
NM_000445.5(PLEC):c.10737G>A (p.Val3579=) rs368312695
NM_000445.5(PLEC):c.10752G>A (p.Val3584=) rs782571355
NM_000445.5(PLEC):c.10778C>T (p.Ala3593Val) rs782700068
NM_000445.5(PLEC):c.10809C>T (p.Gly3603=) rs372840016
NM_000445.5(PLEC):c.10812C>T (p.Gly3604=) rs782672000
NM_000445.5(PLEC):c.10813G>A (p.Gly3605Ser) rs782222673
NM_000445.5(PLEC):c.10821C>T (p.His3607=) rs201867859
NM_000445.5(PLEC):c.10824C>T (p.Gly3608=) rs375573910
NM_000445.5(PLEC):c.10825G>A (p.Gly3609Ser) rs202010719
NM_000445.5(PLEC):c.10840C>T (p.Leu3614=) rs200006106
NM_000445.5(PLEC):c.10915C>T (p.Arg3639Trp) rs199983097
NM_000445.5(PLEC):c.10916G>A (p.Arg3639Gln) rs369226598
NM_000445.5(PLEC):c.10933A>G (p.Met3645Val)
NM_000445.5(PLEC):c.10951G>A (p.Glu3651Lys) rs554393133
NM_000445.5(PLEC):c.10978C>T (p.Arg3660Cys)
NM_000445.5(PLEC):c.10994C>T (p.Ala3665Val)
NM_000445.5(PLEC):c.11006A>G (p.Tyr3669Cys) rs782531580
NM_000445.5(PLEC):c.11012G>A (p.Arg3671His)
NM_000445.5(PLEC):c.11014C>T (p.Arg3672Cys)
NM_000445.5(PLEC):c.11017C>T (p.Arg3673Cys) rs202175941
NM_000445.5(PLEC):c.11018G>A (p.Arg3673His)
NM_000445.5(PLEC):c.11025G>A (p.Thr3675=)
NM_000445.5(PLEC):c.11031G>A (p.Glu3677=) rs782756562
NM_000445.5(PLEC):c.11031G>T (p.Glu3677Asp)
NM_000445.5(PLEC):c.11041G>A (p.Glu3681Lys)
NM_000445.5(PLEC):c.11044G>T (p.Ala3682Ser)
NM_000445.5(PLEC):c.11062G>A (p.Glu3688Lys)
NM_000445.5(PLEC):c.11067C>T (p.Thr3689=) rs35134741
NM_000445.5(PLEC):c.11080C>G (p.Arg3694Gly) rs373318830
NM_000445.5(PLEC):c.11081G>T (p.Arg3694Leu) rs369798520
NM_000445.5(PLEC):c.11087G>A (p.Gly3696Asp) rs1554676292
NM_000445.5(PLEC):c.11096G>C (p.Ser3699Thr)
NM_000445.5(PLEC):c.11097C>G (p.Ser3699Arg) rs376687476
NM_000445.5(PLEC):c.11102G>A (p.Arg3701His) rs782720846
NM_000445.5(PLEC):c.11108C>T (p.Ala3703Val) rs200875002
NM_000445.5(PLEC):c.11117C>T (p.Ala3706Val) rs200060757
NM_000445.5(PLEC):c.11124C>T (p.Ser3708=) rs372793843
NM_000445.5(PLEC):c.11147C>T (p.Thr3716Met) rs377252521
NM_000445.5(PLEC):c.11170C>T (p.Leu3724=) rs17062686
NM_000445.5(PLEC):c.11218G>A (p.Gly3740Arg) rs202037264
NM_000445.5(PLEC):c.11231C>T (p.Ala3744Val)
NM_000445.5(PLEC):c.11288C>T (p.Pro3763Leu) rs77146441
NM_000445.5(PLEC):c.11289G>A (p.Pro3763=) rs200273549
NM_000445.5(PLEC):c.11297G>A (p.Gly3766Glu)
NM_000445.5(PLEC):c.11303G>A (p.Arg3768Gln) rs373215657
NM_000445.5(PLEC):c.11369C>G (p.Ser3790Trp)
NM_000445.5(PLEC):c.11369C>T (p.Ser3790Leu) rs377598440
NM_000445.5(PLEC):c.11410G>A (p.Glu3804Lys) rs538589589
NM_000445.5(PLEC):c.1141C>T (p.Gln381Ter) rs1060499581
NM_000445.5(PLEC):c.11424G>A (p.Ser3808=) rs376719872
NM_000445.5(PLEC):c.11431C>T (p.Gln3811Ter) rs1554675388
NM_000445.5(PLEC):c.1144C>T (p.Leu382Phe) rs200260527
NM_000445.5(PLEC):c.11473C>T (p.Arg3825Trp)
NM_000445.5(PLEC):c.11499C>T (p.Thr3833=) rs559510708
NM_000445.5(PLEC):c.11518C>T (p.Arg3840Cys) rs201666443
NM_000445.5(PLEC):c.11519G>A (p.Arg3840His) rs782311906
NM_000445.5(PLEC):c.11524G>C (p.Gly3842Arg) rs200927137
NM_000445.5(PLEC):c.11557C>T (p.Arg3853Cys) rs781836500
NM_000445.5(PLEC):c.11558G>A (p.Arg3853His) rs782703019
NM_000445.5(PLEC):c.11584G>A (p.Asp3862Asn) rs368824832
NM_000445.5(PLEC):c.11620G>A (p.Val3874Met) rs201654895
NM_000445.5(PLEC):c.11625C>T (p.Asp3875=) rs782496485
NM_000445.5(PLEC):c.11628G>A (p.Pro3876=) rs546817334
NM_000445.5(PLEC):c.11634C>T (p.Thr3878=) rs782756147
NM_000445.5(PLEC):c.11636A>G (p.Asp3879Gly)
NM_000445.5(PLEC):c.11668C>T (p.Arg3890Trp) rs2857818
NM_000445.5(PLEC):c.11669G>A (p.Arg3890Gln) rs781893455
NM_000445.5(PLEC):c.11678G>A (p.Arg3893His) rs377150241
NM_000445.5(PLEC):c.11680G>C (p.Asp3894His) rs62642465
NM_000445.5(PLEC):c.11682C>T (p.Asp3894=) rs75833626
NM_000445.5(PLEC):c.11686G>A (p.Gly3896Ser)
NM_000445.5(PLEC):c.11691C>T (p.Thr3897=) rs781944689
NM_000445.5(PLEC):c.11692G>A (p.Gly3898Ser) rs201419047
NM_000445.5(PLEC):c.11708_11709delinsAC (p.Pro3903His) rs1554674298
NM_000445.5(PLEC):c.11714C>T (p.Ser3905Leu)
NM_000445.5(PLEC):c.11715G>A (p.Ser3905=) rs375097273
NM_000445.5(PLEC):c.11718C>T (p.Asp3906=) rs781888669
NM_000445.5(PLEC):c.11723G>A (p.Arg3908His) rs199504789
NM_000445.5(PLEC):c.11738G>A (p.Arg3913His) rs368152307
NM_000445.5(PLEC):c.11746C>T (p.Arg3916Trp) rs1286894043
NM_000445.5(PLEC):c.11776C>T (p.Arg3926Cys)
NM_000445.5(PLEC):c.11781G>A (p.Ser3927=) rs782549072
NM_000445.5(PLEC):c.11801C>T (p.Thr3934Met) rs78461695
NM_000445.5(PLEC):c.11815C>T (p.Arg3939Trp) rs782136681
NM_000445.5(PLEC):c.11816G>A (p.Arg3939Gln) rs781960031
NM_000445.5(PLEC):c.11836G>A (p.Glu3946Lys) rs782385807
NM_000445.5(PLEC):c.11899G>A (p.Val3967Met) rs534537112
NM_000445.5(PLEC):c.118C>T (p.Arg40Trp) rs781877536
NM_000445.5(PLEC):c.11905G>A (p.Ala3969Thr) rs370908106
NM_000445.5(PLEC):c.11920C>T (p.Leu3974Phe)
NM_000445.5(PLEC):c.11924C>T (p.Ser3975Leu)
NM_000445.5(PLEC):c.11926G>A (p.Val3976Met)
NM_000445.5(PLEC):c.11957G>A (p.Arg3986His)
NM_000445.5(PLEC):c.11991G>A (p.Gln3997=) rs782710557
NM_000445.5(PLEC):c.11994G>A (p.Ala3998=) rs73715559
NM_000445.5(PLEC):c.12001G>A (p.Gly4001Ser)
NM_000445.5(PLEC):c.12007G>A (p.Val4003Ile) rs782422260
NM_000445.5(PLEC):c.12021C>T (p.Ile4007=) rs148865812
NM_000445.5(PLEC):c.12056G>A (p.Arg4019His) rs781830007
NM_000445.5(PLEC):c.1206G>A (p.Val402=) rs375558172
NM_000445.5(PLEC):c.12075C>T (p.Pro4025=) rs113137721
NM_000445.5(PLEC):c.1208C>T (p.Ala403Val) rs1554720663
NM_000445.5(PLEC):c.12099G>A (p.Ser4033=) rs201670327
NM_000445.5(PLEC):c.12103G>A (p.Glu4035Lys)
NM_000445.5(PLEC):c.12106C>T (p.Arg4036Cys) rs989279969
NM_000445.5(PLEC):c.12108C>T (p.Arg4036=) rs762178584
NM_000445.5(PLEC):c.12159C>A (p.Phe4053Leu)
NM_000445.5(PLEC):c.12271G>A (p.Glu4091Lys) rs200206105
NM_000445.5(PLEC):c.12289G>A (p.Gly4097Ser) rs201751379
NM_000445.5(PLEC):c.12297C>T (p.Phe4099=) rs150427959
NM_000445.5(PLEC):c.12299A>G (p.Asp4100Gly) rs1554672558
NM_000445.5(PLEC):c.12303G>A (p.Glu4101=)
NM_000445.5(PLEC):c.12324C>T (p.Thr4108=) rs185022156
NM_000445.5(PLEC):c.12337G>A (p.Asp4113Asn)
NM_000445.5(PLEC):c.12348C>T (p.Gly4116=) rs554609148
NM_000445.5(PLEC):c.1234C>T (p.Arg412Cys) rs782439302
NM_000445.5(PLEC):c.12365C>T (p.Thr4122Met)
NM_000445.5(PLEC):c.1239C>G (p.Ser413Arg) rs201667254
NM_000445.5(PLEC):c.12422C>T (p.Thr4141Met) rs377244187
NM_000445.5(PLEC):c.12423G>A (p.Thr4141=)
NM_000445.5(PLEC):c.12440C>T (p.Pro4147Leu)
NM_000445.5(PLEC):c.12441G>A (p.Pro4147=) rs146781600
NM_000445.5(PLEC):c.12457C>T (p.Arg4153Trp)
NM_000445.5(PLEC):c.12458G>A (p.Arg4153Gln)
NM_000445.5(PLEC):c.12471G>A (p.Thr4157=) rs200575172
NM_000445.5(PLEC):c.12482C>T (p.Ser4161Phe) rs782074353
NM_000445.5(PLEC):c.12487G>C (p.Val4163Leu) rs749212061
NM_000445.5(PLEC):c.12492C>T (p.Arg4164=)
NM_000445.5(PLEC):c.1250+9_1250+21del rs781874571
NM_000445.5(PLEC):c.12524C>T (p.Thr4175Met)
NM_000445.5(PLEC):c.12547G>A (p.Glu4183Lys) rs781855093
NM_000445.5(PLEC):c.12556C>T (p.Arg4186Cys) rs201069314
NM_000445.5(PLEC):c.12565C>G (p.Leu4189Val) rs1554671816
NM_000445.5(PLEC):c.12575A>T (p.His4192Leu) rs782308478
NM_000445.5(PLEC):c.12630C>T (p.Ile4210=) rs199512865
NM_000445.5(PLEC):c.12642C>T (p.Asp4214=) rs11998271
NM_000445.5(PLEC):c.12643G>A (p.Gly4215Ser) rs782165865
NM_000445.5(PLEC):c.12645C>T (p.Gly4215=) rs140191309
NM_000445.5(PLEC):c.12646G>A (p.Val4216Met)
NM_000445.5(PLEC):c.12667G>A (p.Asp4223Asn)
NM_000445.5(PLEC):c.12670C>T (p.Arg4224Cys)
NM_000445.5(PLEC):c.12691G>A (p.Asp4231Asn)
NM_000445.5(PLEC):c.12696C>T (p.Ile4232=) rs202116866
NM_000445.5(PLEC):c.12709G>A (p.Ala4237Thr) rs199941693
NM_000445.5(PLEC):c.12723C>T (p.Ile4241=) rs111227648
NM_000445.5(PLEC):c.12728G>A (p.Arg4243His) rs151106439
NM_000445.5(PLEC):c.12732G>A (p.Ser4244=) rs201043674
NM_000445.5(PLEC):c.12751G>A (p.Ala4251Thr) rs781292412
NM_000445.5(PLEC):c.12752C>G (p.Ala4251Gly) rs368212208
NM_000445.5(PLEC):c.12758C>T (p.Thr4253Met) rs188341564
NM_000445.5(PLEC):c.12772G>A (p.Glu4258Lys) rs782341944
NM_000445.5(PLEC):c.12799G>A (p.Ala4267Thr) rs201688261
NM_000445.5(PLEC):c.12801C>T (p.Ala4267=) rs377625103
NM_000445.5(PLEC):c.12828G>A (p.Ser4276=) rs782377686
NM_000445.5(PLEC):c.12830_12832del (p.Val4277del) rs1434994443
NM_000445.5(PLEC):c.12839C>T (p.Ser4280Phe) rs1554670852
NM_000445.5(PLEC):c.12857G>A (p.Ser4286Asn) rs1220515680
NM_000445.5(PLEC):c.12862G>A (p.Ala4288Thr) rs200924154
NM_000445.5(PLEC):c.12865G>A (p.Val4289Ile) rs142946078
NM_000445.5(PLEC):c.12866T>C (p.Val4289Ala)
NM_000445.5(PLEC):c.12898C>T (p.Pro4300Ser) rs202040785
NM_000445.5(PLEC):c.12911C>T (p.Thr4304Met)
NM_000445.5(PLEC):c.12944C>T (p.Thr4315Met) rs782574559
NM_000445.5(PLEC):c.12957G>A (p.Val4319=) rs199509259
NM_000445.5(PLEC):c.12966C>T (p.Thr4322=) rs782708582
NM_000445.5(PLEC):c.12988G>A (p.Val4330Met) rs200668859
NM_000445.5(PLEC):c.13035C>T (p.Thr4345=) rs200622009
NM_000445.5(PLEC):c.13059C>T (p.Thr4353=) rs781832846
NM_000445.5(PLEC):c.13066C>T (p.Arg4356Cys) rs375593618
NM_000445.5(PLEC):c.13067G>A (p.Arg4356His)
NM_000445.5(PLEC):c.13073C>T (p.Pro4358Leu) rs199651668
NM_000445.5(PLEC):c.13149C>T (p.Phe4383=) rs2855765
NM_000445.5(PLEC):c.13178C>T (p.Thr4393Ile) rs200807583
NM_000445.5(PLEC):c.1317G>A (p.Leu439=) rs190791617
NM_000445.5(PLEC):c.13191C>T (p.Ala4397=) rs187810163
NM_000445.5(PLEC):c.13192G>A (p.Ala4398Thr) rs200361523
NM_000445.5(PLEC):c.13263C>T (p.Thr4421=) rs373958891
NM_000445.5(PLEC):c.13282G>A (p.Asp4428Asn) rs782439392
NM_000445.5(PLEC):c.13286C>T (p.Thr4429Met) rs113513807
NM_000445.5(PLEC):c.13289C>T (p.Pro4430Leu)
NM_000445.5(PLEC):c.13290G>A (p.Pro4430=) rs200338374
NM_000445.5(PLEC):c.13301C>G (p.Pro4434Arg) rs1554669693
NM_000445.5(PLEC):c.13301C>T (p.Pro4434Leu) rs1554669693
NM_000445.5(PLEC):c.1330G>A (p.Ala444Thr)
NM_000445.5(PLEC):c.13321C>T (p.Arg4441Cys)
NM_000445.5(PLEC):c.13322G>A (p.Arg4441His)
NM_000445.5(PLEC):c.13324G>A (p.Gly4442Ser)
NM_000445.5(PLEC):c.13328C>T (p.Thr4443Met) rs201855218
NM_000445.5(PLEC):c.13329G>A (p.Thr4443=) rs115621402
NM_000445.5(PLEC):c.13336G>A (p.Ala4446Thr)
NM_000445.5(PLEC):c.13344C>T (p.Thr4448=) rs369202116
NM_000445.5(PLEC):c.13357C>T (p.Arg4453Cys) rs782043444
NM_000445.5(PLEC):c.13363G>A (p.Val4455Met) rs781960986
NM_000445.5(PLEC):c.13388C>T (p.Thr4463Ile)
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser) rs201820569
NM_000445.5(PLEC):c.13410G>A (p.Lys4470=) rs1554669288
NM_000445.5(PLEC):c.13425C>T (p.Asp4475=) rs192224737
NM_000445.5(PLEC):c.13427C>T (p.Ala4476Val)
NM_000445.5(PLEC):c.13431G>A (p.Leu4477=) rs534414054
NM_000445.5(PLEC):c.1344+6_1344+7insCAGTCGGTGA rs782710802
NM_000445.5(PLEC):c.1344+7_1344+8delinsCA rs1554719894
NM_000445.5(PLEC):c.1344+8_1344+9insCAGCA rs782124502
NM_000445.5(PLEC):c.1345-10G>A rs781972617
NM_000445.5(PLEC):c.13483G>A (p.Ala4495Thr) rs112322162
NM_000445.5(PLEC):c.13484C>T (p.Ala4495Val)
NM_000445.5(PLEC):c.1351C>T (p.Arg451Trp) rs782134950
NM_000445.5(PLEC):c.13525G>A (p.Gly4509Ser) rs373807877
NM_000445.5(PLEC):c.13530C>T (p.Ser4510=) rs782187551
NM_000445.5(PLEC):c.13531G>A (p.Gly4511Ser) rs782650176
NM_000445.5(PLEC):c.13540G>A (p.Ala4514Thr) rs781850956
NM_000445.5(PLEC):c.13549C>T (p.Arg4517Cys)
NM_000445.5(PLEC):c.13550G>A (p.Arg4517His) rs782151802
NM_000445.5(PLEC):c.13555G>A (p.Gly4519Ser)
NM_000445.5(PLEC):c.13560G>A (p.Ser4520=) rs781929758
NM_000445.5(PLEC):c.13563_13564delinsGG (p.Thr4522Ala)
NM_000445.5(PLEC):c.13567G>A (p.Gly4523Ser) rs782618187
NM_000445.5(PLEC):c.13573C>T (p.Arg4525Trp) rs1186944515
NM_000445.5(PLEC):c.13574G>A (p.Arg4525Gln)
NM_000445.5(PLEC):c.13577C>T (p.Ala4526Val)
NM_000445.5(PLEC):c.13578C>T (p.Ala4526=) rs782685276
NM_000445.5(PLEC):c.13579G>A (p.Gly4527Ser)
NM_000445.5(PLEC):c.13582_13606del (p.Ser4528fs)
NM_000445.5(PLEC):c.13590C>T (p.Arg4530=) rs190789703
NM_000445.5(PLEC):c.13591G>A (p.Gly4531Ser) rs527486852
NM_000445.5(PLEC):c.13606A>G (p.Thr4536Ala) rs1554668550
NM_000445.5(PLEC):c.13609G>A (p.Gly4537Ser)
NM_000445.5(PLEC):c.13615G>A (p.Gly4539Ser)
NM_000445.5(PLEC):c.13633T>C (p.Ser4545Pro) rs782468755
NM_000445.5(PLEC):c.13643C>T (p.Ser4548Phe)
NM_000445.5(PLEC):c.13659C>G (p.Gly4553=) rs1554668373
NM_000445.5(PLEC):c.13660T>C (p.Tyr4554His) rs1286310928
NM_000445.5(PLEC):c.13661A>T (p.Tyr4554Phe) rs1563915780
NM_000445.5(PLEC):c.13667G>A (p.Arg4556His)
NM_000445.5(PLEC):c.13680G>A (p.Ser4560=)
NM_000445.5(PLEC):c.13688C>T (p.Ser4563Leu) rs781985768
NM_000445.5(PLEC):c.13717G>A (p.Val4573Met) rs573424409
NM_000445.5(PLEC):c.13722C>G (p.Ala4574=) rs782535880
NM_000445.5(PLEC):c.1382G>A (p.Arg461Gln) rs201336009
NM_000445.5(PLEC):c.1382G>C (p.Arg461Pro)
NM_000445.5(PLEC):c.1386G>A (p.Ala462=) rs369877618
NM_000445.5(PLEC):c.143G>A (p.Ser48Asn) rs782186838
NM_000445.5(PLEC):c.1455C>T (p.Thr485=) rs115081018
NM_000445.5(PLEC):c.1468C>T (p.Arg490Trp)
NM_000445.5(PLEC):c.1476G>A (p.Pro492=) rs199865222
NM_000445.5(PLEC):c.1476G>C (p.Pro492=) rs199865222
NM_000445.5(PLEC):c.148G>T (p.Gly50Trp)
NM_000445.5(PLEC):c.1496G>T (p.Arg499Leu)
NM_000445.5(PLEC):c.1519C>T (p.Arg507Cys) rs202172091
NM_000445.5(PLEC):c.1539C>T (p.Thr513=) rs565993927
NM_000445.5(PLEC):c.1540G>A (p.Glu514Lys) rs371046649
NM_000445.5(PLEC):c.1552C>T (p.Arg518Trp) rs201001882
NM_000445.5(PLEC):c.1553G>A (p.Arg518Gln) rs781938961
NM_000445.5(PLEC):c.1587G>C (p.Gln529His) rs571497788
NM_000445.5(PLEC):c.158T>C (p.Leu53Pro) rs781861668
NM_000445.5(PLEC):c.1622G>A (p.Arg541His) rs781887816
NM_000445.5(PLEC):c.1625C>T (p.Pro542Leu)
NM_000445.5(PLEC):c.1626C>T (p.Pro542=) rs199968254
NM_000445.5(PLEC):c.1640C>T (p.Ser547Phe) rs201605325
NM_000445.5(PLEC):c.1643C>T (p.Thr548Ile)
NM_000445.5(PLEC):c.1702G>A (p.Gly568Ser)
NM_000445.5(PLEC):c.1705G>A (p.Ala569Thr) rs369715210
NM_000445.5(PLEC):c.1710G>T (p.Glu570Asp) rs201164522
NM_000445.5(PLEC):c.1715G>C (p.Gly572Ala)
NM_000445.5(PLEC):c.1731C>T (p.Ser577=) rs541271992
NM_000445.5(PLEC):c.1744C>T (p.Leu582=) rs1476756357
NM_000445.5(PLEC):c.1749C>T (p.Gly583=) rs369796183
NM_000445.5(PLEC):c.1785C>G (p.Phe595Leu) rs1564131156
NM_000445.5(PLEC):c.1787G>A (p.Arg596Gln) rs3135103
NM_000445.5(PLEC):c.1802G>A (p.Arg601Gln) rs782426860
NM_000445.5(PLEC):c.1808G>A (p.Arg603Gln)
NM_000445.5(PLEC):c.1814A>G (p.Asp605Gly) rs886044773
NM_000445.5(PLEC):c.1818+9C>T rs371976170
NM_000445.5(PLEC):c.1833C>T (p.Pro611=) rs185978075
NM_000445.5(PLEC):c.1834G>A (p.Ala612Thr) rs368520468
NM_000445.5(PLEC):c.1838C>G (p.Thr613Ser) rs374313865
NM_000445.5(PLEC):c.1840C>T (p.Arg614Trp)
NM_000445.5(PLEC):c.1841G>A (p.Arg614Gln) rs200259757
NM_000445.5(PLEC):c.1859G>A (p.Cys620Tyr) rs782375393
NM_000445.5(PLEC):c.1867C>T (p.Arg623Trp) rs556691235
NM_000445.5(PLEC):c.1868G>A (p.Arg623Gln) rs1346840219
NM_000445.5(PLEC):c.1896+10G>A rs398123396
NM_000445.5(PLEC):c.1897-7C>G rs201141391
NM_000445.5(PLEC):c.1905C>T (p.Ser635=) rs201927593
NM_000445.5(PLEC):c.194-3C>A
NM_000445.5(PLEC):c.1945G>T (p.Val649Leu) rs1356690324
NM_000445.5(PLEC):c.1959T>A (p.Thr653=) rs377039110
NM_000445.5(PLEC):c.2020C>T (p.Arg674Cys) rs201238023
NM_000445.5(PLEC):c.2028C>T (p.Thr676=) rs1287283415
NM_000445.5(PLEC):c.2036C>T (p.Thr679Ile) rs190470017
NM_000445.5(PLEC):c.2037C>T (p.Thr679=) rs201835507
NM_000445.5(PLEC):c.2038G>A (p.Ala680Thr) rs368435908
NM_000445.5(PLEC):c.2041_2043AAG[1] (p.Lys682del) rs1564125700
NM_000445.5(PLEC):c.2050A>T (p.Ser684Cys) rs199843296
NM_000445.5(PLEC):c.2051G>A (p.Ser684Asn)
NM_000445.5(PLEC):c.2087_2089AGA[2] (p.Lys698del) rs782157103
NM_000445.5(PLEC):c.2093A>T (p.Lys698Met)
NM_000445.5(PLEC):c.2105T>C (p.Leu702Pro)
NM_000445.5(PLEC):c.2157G>A (p.Thr719=)
NM_000445.5(PLEC):c.2163+6G>A rs782596727
NM_000445.5(PLEC):c.2163+6G>T rs782596727
NM_000445.5(PLEC):c.216G>A (p.Lys72=) rs201923141
NM_000445.5(PLEC):c.2175G>A (p.Ala725=) rs373347166
NM_000445.5(PLEC):c.2208G>C (p.Gln736His)
NM_000445.5(PLEC):c.2244C>T (p.Asn748=) rs374712759
NM_000445.5(PLEC):c.2246C>T (p.Ala749Val) rs375178454
NM_000445.5(PLEC):c.2259+10G>A rs781817693
NM_000445.5(PLEC):c.2259+9C>G rs114256617
NM_000445.5(PLEC):c.2259+9C>T rs114256617
NM_000445.5(PLEC):c.2260-10G>A rs199830463
NM_000445.5(PLEC):c.2288G>A (p.Gly763Glu) rs951623918
NM_000445.5(PLEC):c.2291A>G (p.Gln764Arg) rs1554715549
NM_000445.5(PLEC):c.2298G>A (p.Gln766=) rs116612406
NM_000445.5(PLEC):c.2312C>T (p.Ala771Val)
NM_000445.5(PLEC):c.2317C>T (p.Arg773Cys) rs782156696
NM_000445.5(PLEC):c.2318G>A (p.Arg773His) rs200887085
NM_000445.5(PLEC):c.2350G>A (p.Val784Ile)
NM_000445.5(PLEC):c.2386-10del rs142120912
NM_000445.5(PLEC):c.2389G>A (p.Glu797Lys)
NM_000445.5(PLEC):c.2491C>T (p.Arg831Trp) rs201194946
NM_000445.5(PLEC):c.2515G>C (p.Val839Leu)
NM_000445.5(PLEC):c.2539-7G>A rs372799330
NM_000445.5(PLEC):c.2539-8C>T rs201818691
NM_000445.5(PLEC):c.2543C>T (p.Thr848Ile) rs200686790
NM_000445.5(PLEC):c.255+10del rs528031000
NM_000445.5(PLEC):c.2558A>G (p.Asp853Gly) rs369344419
NM_000445.5(PLEC):c.256-6C>T rs377389860
NM_000445.5(PLEC):c.257C>T (p.Ala86Val) rs530919504
NM_000445.5(PLEC):c.2589G>A (p.Pro863=) rs116385960
NM_000445.5(PLEC):c.2621G>A (p.Ser874Asn) rs782716612
NM_000445.5(PLEC):c.2623G>A (p.Glu875Lys)
NM_000445.5(PLEC):c.2629G>A (p.Ala877Thr) rs58836306
NM_000445.5(PLEC):c.2632G>A (p.Val878Met) rs200647397
NM_000445.5(PLEC):c.2641G>A (p.Val881Met)
NM_000445.5(PLEC):c.2686G>A (p.Val896Ile) rs782050689
NM_000445.5(PLEC):c.2693+10G>A rs539801615
NM_000445.5(PLEC):c.2694-7C>A rs11990994
NM_000445.5(PLEC):c.2694-7C>T
NM_000445.5(PLEC):c.2694-8C>T rs376936955
NM_000445.5(PLEC):c.26G>A (p.Arg9Gln) rs138978753
NM_000445.5(PLEC):c.2723C>T (p.Thr908Met) rs200611519
NM_000445.5(PLEC):c.2739G>A (p.Leu913=) rs78012434
NM_000445.5(PLEC):c.2779C>T (p.Arg927Cys)
NM_000445.5(PLEC):c.2780G>A (p.Arg927His) rs376953993
NM_000445.5(PLEC):c.2783G>A (p.Arg928His) rs782494047
NM_000445.5(PLEC):c.2785G>A (p.Asp929Asn) rs199833127
NM_000445.5(PLEC):c.2800C>T (p.Arg934Cys)
NM_000445.5(PLEC):c.2817C>T (p.Ala939=) rs558031489
NM_000445.5(PLEC):c.2819C>T (p.Thr940Met)
NM_000445.5(PLEC):c.2820+5G>A rs782147311
NM_000445.5(PLEC):c.2820G>A (p.Thr940=) rs200436731
NM_000445.5(PLEC):c.2824C>T (p.Arg942Cys) rs376236283
NM_000445.5(PLEC):c.2849G>A (p.Arg950His) rs371122460
NM_000445.5(PLEC):c.2856C>T (p.Ala952=) rs201202488
NM_000445.5(PLEC):c.2866C>T (p.Leu956=) rs369676162
NM_000445.5(PLEC):c.2876A>G (p.His959Arg)
NM_000445.5(PLEC):c.2913C>T (p.Gly971=) rs145050858
NM_000445.5(PLEC):c.2914G>A (p.Gly972Ser) rs371683315
NM_000445.5(PLEC):c.2915G>A (p.Gly972Asp)
NM_000445.5(PLEC):c.2920G>A (p.Gly974Arg) rs367695725
NM_000445.5(PLEC):c.2925C>T (p.Pro975=) rs200482255
NM_000445.5(PLEC):c.293G>A (p.Arg98His) rs1478796034
NM_000445.5(PLEC):c.2956G>A (p.Gly986Ser) rs201071539
NM_000445.5(PLEC):c.2966G>A (p.Ser989Asn) rs1564101094
NM_000445.5(PLEC):c.3005G>A (p.Gly1002Asp)
NM_000445.5(PLEC):c.3022C>T (p.Arg1008Cys)
NM_000445.5(PLEC):c.3042C>T (p.Ser1014=) rs149932255
NM_000445.5(PLEC):c.3043G>C (p.Glu1015Gln) rs367627441
NM_000445.5(PLEC):c.3059G>A (p.Arg1020Gln) rs534045685
NM_000445.5(PLEC):c.3065_3109del (p.Gln1022_Leu1036del) rs1554710983
NM_000445.5(PLEC):c.3077G>A (p.Cys1026Tyr) rs200086907
NM_000445.5(PLEC):c.3086G>A (p.Arg1029His)
NM_000445.5(PLEC):c.3091G>A (p.Val1031Met) rs201782280
NM_000445.5(PLEC):c.3094C>T (p.His1032Tyr)
NM_000445.5(PLEC):c.3097C>T (p.Arg1033Cys)
NM_000445.5(PLEC):c.3109_3114dup (p.Pro1037_Leu1038dup) rs782308502
NM_000445.5(PLEC):c.3110C>T (p.Pro1037Leu) rs782808621
NM_000445.5(PLEC):c.3150C>T (p.Ile1050=) rs1044868125
NM_000445.5(PLEC):c.3154G>A (p.Glu1052Lys) rs150652392
NM_000445.5(PLEC):c.3162+6G>A
NM_000445.5(PLEC):c.3206G>A (p.Arg1069Gln) rs191154069
NM_000445.5(PLEC):c.3217G>A (p.Glu1073Lys) rs781823745
NM_000445.5(PLEC):c.3223G>A (p.Glu1075Lys) rs199523622
NM_000445.5(PLEC):c.3252G>A (p.Ser1084=) rs371271326
NM_000445.5(PLEC):c.3257C>T (p.Ala1086Val) rs529986115
NM_000445.5(PLEC):c.3273C>T (p.Arg1091=) rs73377210
NM_000445.5(PLEC):c.3276G>A (p.Ser1092=)
NM_000445.5(PLEC):c.3289A>G (p.Thr1097Ala) rs185859960
NM_000445.5(PLEC):c.3291G>A (p.Thr1097=) rs375699173
NM_000445.5(PLEC):c.330C>T (p.Leu110=) rs1554725092
NM_000445.5(PLEC):c.3313C>T (p.Arg1105Cys)
NM_000445.5(PLEC):c.3342-1G>A
NM_000445.5(PLEC):c.3343C>G (p.Leu1115Val) rs782370585
NM_000445.5(PLEC):c.3368G>A (p.Arg1123His)
NM_000445.5(PLEC):c.3374C>T (p.Thr1125Met) rs377368835
NM_000445.5(PLEC):c.3379G>A (p.Gly1127Arg) rs201404741
NM_000445.5(PLEC):c.3379G>C (p.Gly1127Arg) rs201404741
NM_000445.5(PLEC):c.337G>A (p.Asp113Asn)
NM_000445.5(PLEC):c.3381G>A (p.Gly1127=) rs1554709079
NM_000445.5(PLEC):c.3406G>A (p.Glu1136Lys)
NM_000445.5(PLEC):c.3425C>T (p.Ala1142Val) rs376082569
NM_000445.5(PLEC):c.3432C>T (p.Ala1144=) rs145376880
NM_000445.5(PLEC):c.3437C>T (p.Pro1146Leu) rs782567448
NM_000445.5(PLEC):c.3459G>A (p.Glu1153=) rs11991764
NM_000445.5(PLEC):c.346-9T>G rs376483549
NM_000445.5(PLEC):c.3480+5C>T rs782197467
NM_000445.5(PLEC):c.348C>G (p.Pro116=) rs1554724266
NM_000445.5(PLEC):c.3515C>T (p.Thr1172Met) rs200672373
NM_000445.5(PLEC):c.3517T>A (p.Phe1173Ile) rs1554708450
NM_000445.5(PLEC):c.3541C>T (p.Arg1181Trp) rs782544250
NM_000445.5(PLEC):c.3542G>A (p.Arg1181Gln)
NM_000445.5(PLEC):c.3562G>A (p.Glu1188Lys) rs1298210653
NM_000445.5(PLEC):c.3566G>A (p.Arg1189Gln) rs368280705
NM_000445.5(PLEC):c.3595G>A (p.Val1199Met)
NM_000445.5(PLEC):c.3607C>T (p.Arg1203Cys)
NM_000445.5(PLEC):c.3614G>A (p.Arg1205Gln) rs782590380
NM_000445.5(PLEC):c.3624C>T (p.Val1208=) rs202185399
NM_000445.5(PLEC):c.3641G>A (p.Arg1214His)
NM_000445.5(PLEC):c.364A>G (p.Met122Val)
NM_000445.5(PLEC):c.3669C>T (p.Asp1223=) rs377059744
NM_000445.5(PLEC):c.3670G>A (p.Val1224Met)
NM_000445.5(PLEC):c.3681C>T (p.Arg1227=)
NM_000445.5(PLEC):c.3682G>A (p.Glu1228Lys)
NM_000445.5(PLEC):c.3710G>A (p.Arg1237His) rs369682125
NM_000445.5(PLEC):c.3720C>T (p.Arg1240=) rs782293819
NM_000445.5(PLEC):c.3729A>C (p.Ala1243=) rs1554707677
NM_000445.5(PLEC):c.3734C>T (p.Pro1245Leu)
NM_000445.5(PLEC):c.3757G>A (p.Ala1253Thr) rs782539707
NM_000445.5(PLEC):c.3760A>G (p.Arg1254Gly) rs1554707565
NM_000445.5(PLEC):c.3763C>T (p.Arg1255Trp) rs144610086
NM_000445.5(PLEC):c.3766C>T (p.Arg1256Trp) rs781861123
NM_000445.5(PLEC):c.3768G>T (p.Arg1256=) rs782037394
NM_000445.5(PLEC):c.3792G>T (p.Pro1264=) rs572124553
NM_000445.5(PLEC):c.3798C>T (p.Ala1266=) rs112173070
NM_000445.5(PLEC):c.3799G>A (p.Asp1267Asn)
NM_000445.5(PLEC):c.3812T>G (p.Val1271Gly) rs187648086
NM_000445.5(PLEC):c.3826C>A (p.Arg1276=) rs201552166
NM_000445.5(PLEC):c.3838-6=
NM_000445.5(PLEC):c.3838-9A>G rs57461687
NM_000445.5(PLEC):c.3859C>G (p.Arg1287Gly) rs151022876
NM_000445.5(PLEC):c.3861C>T (p.Arg1287=) rs201737115
NM_000445.5(PLEC):c.3877G>A (p.Glu1293Lys) rs377647607
NM_000445.5(PLEC):c.3897G>A (p.Ala1299=) rs776436826
NM_000445.5(PLEC):c.3922G>T (p.Asp1308Tyr)
NM_000445.5(PLEC):c.3932T>C (p.Leu1311Pro) rs886044774
NM_000445.5(PLEC):c.3944C>T (p.Thr1315Met)
NM_000445.5(PLEC):c.3950A>G (p.Lys1317Arg) rs200895043
NM_000445.5(PLEC):c.3954G>A (p.Ala1318=) rs374669316
NM_000445.5(PLEC):c.3965C>T (p.Pro1322Leu)
NM_000445.5(PLEC):c.3966G>A (p.Pro1322=) rs148465219
NM_000445.5(PLEC):c.3977C>T (p.Pro1326Leu) rs201955391
NM_000445.5(PLEC):c.4001C>T (p.Ser1334Leu) rs199796047
NM_000445.5(PLEC):c.4012A>T (p.Ser1338Cys) rs1564076498
NM_000445.5(PLEC):c.4024G>A (p.Glu1342Lys) rs782504857
NM_000445.5(PLEC):c.4026+4G>A rs1443632528
NM_000445.5(PLEC):c.4039C>T (p.Arg1347Cys) rs372256096
NM_000445.5(PLEC):c.4051A>C (p.Ser1351Arg) rs782377096
NM_000445.5(PLEC):c.4053C>T (p.Ser1351=) rs375565604
NM_000445.5(PLEC):c.4054G>A (p.Glu1352Lys)
NM_000445.5(PLEC):c.4065A>G (p.Thr1355=) rs535828050
NM_000445.5(PLEC):c.4071G>A (p.Thr1357=) rs782639631
NM_000445.5(PLEC):c.4095C>T (p.Ser1365=) rs145555539
NM_000445.5(PLEC):c.4108C>T (p.Arg1370Cys) rs376359597
NM_000445.5(PLEC):c.4109G>A (p.Arg1370His) rs371776565
NM_000445.5(PLEC):c.413G>A (p.Arg138Gln)
NM_000445.5(PLEC):c.4158C>T (p.Arg1386=) rs553047216
NM_000445.5(PLEC):c.4164G>A (p.Arg1388=) rs377619355
NM_000445.5(PLEC):c.4182C>T (p.Ala1394=) rs376065732
NM_000445.5(PLEC):c.4214C>T (p.Ala1405Val)
NM_000445.5(PLEC):c.4243C>T (p.Arg1415Trp) rs188305538
NM_000445.5(PLEC):c.424G>C (p.Val142Leu) rs1175276086
NM_000445.5(PLEC):c.4267C>T (p.Arg1423Cys) rs782175129
NM_000445.5(PLEC):c.4268G>A (p.Arg1423His) rs148159359
NM_000445.5(PLEC):c.4289G>A (p.Arg1430Gln) rs1554703818
NM_000445.5(PLEC):c.4291C>T (p.Arg1431Trp)
NM_000445.5(PLEC):c.4301C>T (p.Ala1434Val) rs548430154
NM_000445.5(PLEC):c.4302G>A (p.Ala1434=) rs185790521
NM_000445.5(PLEC):c.4304C>T (p.Ala1435Val) rs111851716
NM_000445.5(PLEC):c.4311C>T (p.Asp1437=) rs111282136
NM_000445.5(PLEC):c.4314G>A (p.Ala1438=) rs2855760
NM_000445.5(PLEC):c.4394G>A (p.Arg1465Gln)
NM_000445.5(PLEC):c.4404G>C (p.Glu1468Asp) rs782706697
NM_000445.5(PLEC):c.4407G>A (p.Ala1469=) rs369943756
NM_000445.5(PLEC):c.4414C>G (p.Arg1472Gly) rs782018221
NM_000445.5(PLEC):c.4414C>T (p.Arg1472Cys) rs782018221
NM_000445.5(PLEC):c.4415G>A (p.Arg1472His) rs782421383
NM_000445.5(PLEC):c.4427G>A (p.Arg1476His) rs561225406
NM_000445.5(PLEC):c.4432G>A (p.Glu1478Lys) rs868906137
NM_000445.5(PLEC):c.4445G>A (p.Arg1482His) rs542878693
NM_000445.5(PLEC):c.4447G>A (p.Val1483Met) rs186848953
NM_000445.5(PLEC):c.4454G>T (p.Arg1485Leu) rs782720526
NM_000445.5(PLEC):c.4473C>T (p.Thr1491=) rs372029672
NM_000445.5(PLEC):c.4478G>A (p.Arg1493His) rs367724538
NM_000445.5(PLEC):c.4483C>T (p.Arg1495Cys) rs1210256536
NM_000445.5(PLEC):c.4491G>A (p.Gly1497=) rs782222671
NM_000445.5(PLEC):c.4516C>G (p.Arg1506Gly) rs782801825
NM_000445.5(PLEC):c.4519G>T (p.Ala1507Ser)
NM_000445.5(PLEC):c.4532A>C (p.Glu1511Ala) rs782034460
NM_000445.5(PLEC):c.4556C>T (p.Ala1519Val)
NM_000445.5(PLEC):c.4570G>A (p.Glu1524Lys)
NM_000445.5(PLEC):c.4580G>A (p.Arg1527Gln) rs782344020
NM_000445.5(PLEC):c.459T>G (p.Ala153=) rs6993938
NM_000445.5(PLEC):c.4602C>T (p.Ser1534=) rs372986812
NM_000445.5(PLEC):c.4605G>A (p.Gln1535=) rs370168097
NM_000445.5(PLEC):c.4607G>A (p.Arg1536His) rs782666455
NM_000445.5(PLEC):c.4637C>T (p.Ser1546Leu) rs182120395
NM_000445.5(PLEC):c.4638G>A (p.Ser1546=) rs79705634
NM_000445.5(PLEC):c.4641C>T (p.Arg1547=) rs782412831
NM_000445.5(PLEC):c.4642G>A (p.Val1548Met) rs782046910
NM_000445.5(PLEC):c.4656C>A (p.Ala1552=) rs782624380
NM_000445.5(PLEC):c.4664C>T (p.Ala1555Val) rs532681952
NM_000445.5(PLEC):c.4666C>T (p.Arg1556Cys)
NM_000445.5(PLEC):c.4668C>T (p.Arg1556=) rs369723574
NM_000445.5(PLEC):c.4679G>A (p.Arg1560Gln) rs201430180
NM_000445.5(PLEC):c.4705C>T (p.Arg1569Trp)
NM_000445.5(PLEC):c.4713G>A (p.Gln1571=) rs1554701847
NM_000445.5(PLEC):c.4716G>A (p.Ala1572=) rs76426116
NM_000445.5(PLEC):c.4721A>C (p.Glu1574Ala)
NM_000445.5(PLEC):c.4725G>A (p.Ala1575=) rs62642470
NM_000445.5(PLEC):c.4729C>T (p.Arg1577Trp) rs560918806
NM_000445.5(PLEC):c.4730G>A (p.Arg1577Gln) rs782555054
NM_000445.5(PLEC):c.4732C>T (p.Arg1578Cys) rs2857824
NM_000445.5(PLEC):c.4739G>A (p.Arg1580Gln) rs782744995
NM_000445.5(PLEC):c.4757G>A (p.Arg1586Gln)
NM_000445.5(PLEC):c.4762C>T (p.Arg1588Trp) rs782648800
NM_000445.5(PLEC):c.4763G>A (p.Arg1588Gln) rs376840697
NM_000445.5(PLEC):c.4790C>T (p.Ala1597Val) rs782096342
NM_000445.5(PLEC):c.4795C>T (p.Arg1599Cys)
NM_000445.5(PLEC):c.4801G>A (p.Ala1601Thr) rs914835478
NM_000445.5(PLEC):c.4809G>A (p.Ala1603=) rs545266312
NM_000445.5(PLEC):c.4839C>G (p.Ala1613=) rs782073897
NM_000445.5(PLEC):c.4852C>G (p.Gln1618Glu) rs782016001
NM_000445.5(PLEC):c.4862G>C (p.Arg1621Pro)
NM_000445.5(PLEC):c.4876G>A (p.Glu1626Lys)
NM_000445.5(PLEC):c.4881C>T (p.His1627=) rs149044728
NM_000445.5(PLEC):c.4900C>T (p.Arg1634Trp)
NM_000445.5(PLEC):c.4914G>A (p.Glu1638=) rs753327457
NM_000445.5(PLEC):c.4935C>T (p.Ala1645=) rs7011480
NM_000445.5(PLEC):c.4936G>A (p.Glu1646Lys) rs782026068
NM_000445.5(PLEC):c.4945C>T (p.Arg1649Trp) rs781964004
NM_000445.5(PLEC):c.4950G>A (p.Ala1650=) rs782246479
NM_000445.5(PLEC):c.4951C>T (p.Arg1651Cys) rs782663079
NM_000445.5(PLEC):c.4952G>A (p.Arg1651His)
NM_000445.5(PLEC):c.4954G>A (p.Glu1652Lys) rs187338487
NM_000445.5(PLEC):c.4978C>T (p.Arg1660Cys)
NM_000445.5(PLEC):c.5003C>T (p.Ala1668Val) rs1554700268
NM_000445.5(PLEC):c.5008C>T (p.Arg1670Trp)
NM_000445.5(PLEC):c.5071A>G (p.Lys1691Glu) rs782318719
NM_000445.5(PLEC):c.5078_5080AGG[2] (p.Glu1695del) rs782362153
NM_000445.5(PLEC):c.5087C>T (p.Ala1696Val) rs782557094
NM_000445.5(PLEC):c.5094C>T (p.Arg1698=) rs537901575
NM_000445.5(PLEC):c.5095G>A (p.Glu1699Lys) rs782791575
NM_000445.5(PLEC):c.5099C>T (p.Ala1700Val)
NM_000445.5(PLEC):c.5100G>A (p.Ala1700=) rs782031336
NM_000445.5(PLEC):c.5102G>A (p.Arg1701Gln)
NM_000445.5(PLEC):c.5104C>T (p.Arg1702Trp) rs567331060
NM_000445.5(PLEC):c.5105G>A (p.Arg1702Gln) rs370569372
NM_000445.5(PLEC):c.5108G>A (p.Arg1703His) rs62640371
NM_000445.5(PLEC):c.5109C>T (p.Arg1703=) rs200727084
NM_000445.5(PLEC):c.5114A>G (p.Lys1705Arg) rs782459426
NM_000445.5(PLEC):c.5131G>A (p.Val1711Ile) rs760585494
NM_000445.5(PLEC):c.5163G>A (p.Leu1721=) rs182961574
NM_000445.5(PLEC):c.5163G>C (p.Leu1721=) rs182961574
NM_000445.5(PLEC):c.5173C>T (p.Arg1725Trp) rs201386659
NM_000445.5(PLEC):c.5184G>A (p.Ala1728=) rs542255749
NM_000445.5(PLEC):c.5211C>T (p.Ala1737=) rs782055472
NM_000445.5(PLEC):c.5214G>A (p.Ala1738=) rs782100942
NM_000445.5(PLEC):c.5230C>T (p.Arg1744Trp) rs192022872
NM_000445.5(PLEC):c.5246C>T (p.Thr1749Met) rs377665141
NM_000445.5(PLEC):c.5282A>G (p.Glu1761Gly) rs1554698803
NM_000445.5(PLEC):c.5293C>T (p.Arg1765Trp) rs782696997
NM_000445.5(PLEC):c.5294G>A (p.Arg1765Gln) rs577419493
NM_000445.5(PLEC):c.5303G>A (p.Arg1768His)
NM_000445.5(PLEC):c.5308G>A (p.Ala1770Thr) rs781946435
NM_000445.5(PLEC):c.5310G>A (p.Ala1770=) rs140406501
NM_000445.5(PLEC):c.5330G>A (p.Arg1777Gln)
NM_000445.5(PLEC):c.5330G>T (p.Arg1777Leu)
NM_000445.5(PLEC):c.5337G>A (p.Glu1779=) rs782572982
NM_000445.5(PLEC):c.5385G>A (p.Leu1795=) rs186670912
NM_000445.5(PLEC):c.5397G>A (p.Ala1799=) rs62642466
NM_000445.5(PLEC):c.5417G>A (p.Arg1806His)
NM_000445.5(PLEC):c.5427C>T (p.Ser1809=) rs782138988
NM_000445.5(PLEC):c.5450_5455AGGCCG[3] (p.1817_1818EA[3]) rs1464842034
NM_000445.5(PLEC):c.5452G>A (p.Ala1818Thr) rs563085221
NM_000445.5(PLEC):c.5460C>T (p.Ala1820=) rs1174740573
NM_000445.5(PLEC):c.5464C>T (p.Arg1822Trp)
NM_000445.5(PLEC):c.546G>A (p.Ser182=) rs398123399
NM_000445.5(PLEC):c.5471G>A (p.Arg1824His) rs782581787
NM_000445.5(PLEC):c.5472C>T (p.Arg1824=) rs551187778
NM_000445.5(PLEC):c.5473G>A (p.Glu1825Lys)
NM_000445.5(PLEC):c.5482G>A (p.Glu1828Lys)
NM_000445.5(PLEC):c.5491G>A (p.Ala1831Thr)
NM_000445.5(PLEC):c.5495G>A (p.Arg1832His) rs782438887
NM_000445.5(PLEC):c.5500C>T (p.Arg1834Cys) rs781812050
NM_000445.5(PLEC):c.5511G>A (p.Ala1837=)
NM_000445.5(PLEC):c.5524C>T (p.Arg1842Trp) rs398123400
NM_000445.5(PLEC):c.5525G>T (p.Arg1842Leu) rs782213742
NM_000445.5(PLEC):c.5537_5563dup (p.Leu1846_Gln1854dup)
NM_000445.5(PLEC):c.5541C>T (p.Ala1847=) rs782259899
NM_000445.5(PLEC):c.5550C>T (p.Asp1850=) rs771101893
NM_000445.5(PLEC):c.5552C>T (p.Ala1851Val) rs542642242
NM_000445.5(PLEC):c.5555C>T (p.Ala1852Val) rs781844059
NM_000445.5(PLEC):c.5557C>T (p.Arg1853Trp) rs200575795
NM_000445.5(PLEC):c.5558G>A (p.Arg1853Gln) rs147838690
NM_000445.5(PLEC):c.5568C>T (p.Ala1856=) rs781998103
NM_000445.5(PLEC):c.5574G>A (p.Ala1858=) rs201218437
NM_000445.5(PLEC):c.5579G>A (p.Arg1860Gln) rs369277699
NM_000445.5(PLEC):c.5588C>T (p.Ala1863Val) rs782216341
NM_000445.5(PLEC):c.5599G>A (p.Ala1867Thr)
NM_000445.5(PLEC):c.5601C>T (p.Ala1867=) rs374790646
NM_000445.5(PLEC):c.5602G>A (p.Ala1868Thr) rs201657125
NM_000445.5(PLEC):c.5608G>A (p.Gly1870Ser)
NM_000445.5(PLEC):c.5622G>A (p.Arg1874=) rs1359590722
NM_000445.5(PLEC):c.5630C>T (p.Thr1877Met) rs534267486
NM_000445.5(PLEC):c.5632G>A (p.Glu1878Lys)
NM_000445.5(PLEC):c.5646G>A (p.Ala1882=) rs782584101
NM_000445.5(PLEC):c.5670C>T (p.Asn1890=) rs782678351
NM_000445.5(PLEC):c.5671G>A (p.Glu1891Lys) rs782434552
NM_000445.5(PLEC):c.5677C>T (p.Leu1893=) rs781859313
NM_000445.5(PLEC):c.5683C>T (p.Arg1895Trp) rs200543521
NM_000445.5(PLEC):c.5698G>A (p.Glu1900Lys) rs367715409
NM_000445.5(PLEC):c.5706C>A (p.Phe1902Leu)
NM_000445.5(PLEC):c.5711G>A (p.Arg1904Gln) rs932283077
NM_000445.5(PLEC):c.5713C>T (p.Arg1905Trp) rs782312793
NM_000445.5(PLEC):c.5714G>A (p.Arg1905Gln) rs373617951
NM_000445.5(PLEC):c.5717G>A (p.Arg1906Gln) rs781997724
NM_000445.5(PLEC):c.5733C>T (p.Ala1911=) rs375064227
NM_000445.5(PLEC):c.5734G>A (p.Ala1912Thr) rs201070741
NM_000445.5(PLEC):c.5754C>T (p.Ile1918=) rs191863619
NM_000445.5(PLEC):c.5777G>A (p.Arg1926His) rs200751865
NM_000445.5(PLEC):c.5786C>T (p.Ser1929Leu)
NM_000445.5(PLEC):c.5792G>T (p.Ser1931Ile)
NM_000445.5(PLEC):c.5793C>T (p.Ser1931=) rs115735672
NM_000445.5(PLEC):c.5796G>A (p.Glu1932=) rs782414131
NM_000445.5(PLEC):c.5797C>T (p.Leu1933=) rs142161984
NM_000445.5(PLEC):c.5804G>A (p.Arg1935Gln)
NM_000445.5(PLEC):c.5808G>T (p.Gln1936His)
NM_000445.5(PLEC):c.5813G>A (p.Gly1938Glu) rs377030479
NM_000445.5(PLEC):c.5842C>T (p.Arg1948Trp) rs201278290
NM_000445.5(PLEC):c.5868G>A (p.Ala1956=) rs368886943
NM_000445.5(PLEC):c.5877G>A (p.Ala1959=) rs375568532
NM_000445.5(PLEC):c.5879G>A (p.Ser1960Asn)
NM_000445.5(PLEC):c.5896G>A (p.Ala1966Thr) rs375422079
NM_000445.5(PLEC):c.5906C>T (p.Ala1969Val) rs372179538
NM_000445.5(PLEC):c.5909_5914AGCTGG[2] (p.1970_1971EL[2])
NM_000445.5(PLEC):c.5922_5923insTTGGAG (p.1970_1971EL[4]) rs781862456
NM_000445.5(PLEC):c.5931C>T (p.Arg1977=) rs782025214
NM_000445.5(PLEC):c.5944G>A (p.Ala1982Thr)
NM_000445.5(PLEC):c.5946G>A (p.Ala1982=) rs62642469
NM_000445.5(PLEC):c.5955G>A (p.Thr1985=) rs185082202
NM_000445.5(PLEC):c.5959C>T (p.Arg1987Cys) rs540421549
NM_000445.5(PLEC):c.5960G>A (p.Arg1987His) rs367679924
NM_000445.5(PLEC):c.5964C>T (p.Ser1988=)
NM_000445.5(PLEC):c.5981T>C (p.Leu1994Pro) rs1564031595
NM_000445.5(PLEC):c.5988_5989inv (p.Ala1997Thr)
NM_000445.5(PLEC):c.5999G>A (p.Arg2000Gln) rs782680523
NM_000445.5(PLEC):c.6003G>C (p.Gln2001His) rs202190540
NM_000445.5(PLEC):c.6007G>A (p.Ala2003Thr)
NM_000445.5(PLEC):c.6011C>T (p.Ala2004Val) rs398123401
NM_000445.5(PLEC):c.6012G>A (p.Ala2004=) rs782739868
NM_000445.5(PLEC):c.6013_6015GAG[2] (p.Glu2007del)
NM_000445.5(PLEC):c.6022C>T (p.Arg2008Trp) rs962321651
NM_000445.5(PLEC):c.6026G>A (p.Arg2009Gln)
NM_000445.5(PLEC):c.6032G>A (p.Arg2011His) rs575072418
NM_000445.5(PLEC):c.6046C>A (p.Arg2016Ser) rs201465091
NM_000445.5(PLEC):c.6046C>T (p.Arg2016Cys) rs201465091
NM_000445.5(PLEC):c.6049G>A (p.Val2017Met) rs201588551
NM_000445.5(PLEC):c.6065C>T (p.Ala2022Val)
NM_000445.5(PLEC):c.6071_6073AGG[2] (p.Glu2026del)
NM_000445.5(PLEC):c.6074A>C (p.Glu2025Ala)
NM_000445.5(PLEC):c.6086G>A (p.Arg2029Gln) rs781868030
NM_000445.5(PLEC):c.6091C>T (p.Arg2031Trp) rs369813798
NM_000445.5(PLEC):c.6102G>A (p.Ala2034=) rs200338935
NM_000445.5(PLEC):c.610G>A (p.Gly204Ser) rs1554722875
NM_000445.5(PLEC):c.6115G>A (p.Glu2039Lys)
NM_000445.5(PLEC):c.6118C>T (p.Arg2040Trp) rs34893635
NM_000445.5(PLEC):c.6126A>T (p.Lys2042Asn) rs200540800
NM_000445.5(PLEC):c.6140A>C (p.Glu2047Ala) rs367662560
NM_000445.5(PLEC):c.6145C>T (p.Arg2049Trp) rs781936068
NM_000445.5(PLEC):c.6145_6146insCCC (p.Arg2049_Arg2050insPro) rs1554694552
NM_000445.5(PLEC):c.6146G>A (p.Arg2049Gln) rs782332277
NM_000445.5(PLEC):c.6148C>T (p.Arg2050Cys)
NM_000445.5(PLEC):c.6149G>A (p.Arg2050His)
NM_000445.5(PLEC):c.6150C>G (p.Arg2050=) rs376365984
NM_000445.5(PLEC):c.6161G>A (p.Arg2054Gln)
NM_000445.5(PLEC):c.6165G>A (p.Ala2055=) rs528306324
NM_000445.5(PLEC):c.6169C>A (p.Gln2057Lys)
NM_000445.5(PLEC):c.6177G>C (p.Ser2059=) rs564245730
NM_000445.5(PLEC):c.6179C>T (p.Ala2060Val) rs782712639
NM_000445.5(PLEC):c.6193C>T (p.Leu2065=) rs1554694327
NM_000445.5(PLEC):c.6196G>C (p.Ala2066Pro) rs1554694317
NM_000445.5(PLEC):c.6208G>T (p.Ala2070Ser) rs370881215
NM_000445.5(PLEC):c.6218G>A (p.Arg2073Gln) rs368319141
NM_000445.5(PLEC):c.6218G>T (p.Arg2073Leu) rs368319141
NM_000445.5(PLEC):c.621C>T (p.Cys207=) rs189256993
NM_000445.5(PLEC):c.6243C>T (p.His2081=) rs563719398
NM_000445.5(PLEC):c.6250_6251delinsAT (p.Ala2084Met) rs1564026689
NM_000445.5(PLEC):c.6279G>T (p.Gln2093His) rs201574539
NM_000445.5(PLEC):c.6303C>T (p.Ser2101=) rs370347438
NM_000445.5(PLEC):c.6320G>A (p.Arg2107His) rs782288289
NM_000445.5(PLEC):c.6321C>T (p.Arg2107=) rs576688705
NM_000445.5(PLEC):c.6322G>A (p.Gly2108Ser) rs782450868
NM_000445.5(PLEC):c.6329C>T (p.Ala2110Val) rs781878105
NM_000445.5(PLEC):c.6330G>A (p.Ala2110=) rs377026986
NM_000445.5(PLEC):c.6331G>A (p.Glu2111Lys) rs1554693665
NM_000445.5(PLEC):c.6341G>A (p.Arg2114Gln) rs782091020
NM_000445.5(PLEC):c.6343C>T (p.Arg2115Trp) rs558683670
NM_000445.5(PLEC):c.6353A>G (p.Glu2118Gly) rs1204180231
NM_000445.5(PLEC):c.6358G>A (p.Ala2120Thr)
NM_000445.5(PLEC):c.6381G>A (p.Ala2127=) rs188154081
NM_000445.5(PLEC):c.6384G>A (p.Glu2128=) rs781833947
NM_000445.5(PLEC):c.6392C>T (p.Ala2131Val) rs201959200
NM_000445.5(PLEC):c.6394_6395delinsAT (p.Ala2132Met) rs886044784
NM_000445.5(PLEC):c.6399G>A (p.Gln2133=) rs556328818
NM_000445.5(PLEC):c.6401C>T (p.Ser2134Phe) rs782287448
NM_000445.5(PLEC):c.6424G>A (p.Glu2142Lys) rs782713908
NM_000445.5(PLEC):c.6427C>T (p.Arg2143Trp)
NM_000445.5(PLEC):c.6428G>A (p.Arg2143Gln)
NM_000445.5(PLEC):c.6440C>T (p.Ser2147Leu)
NM_000445.5(PLEC):c.6441G>A (p.Ser2147=) rs376614483
NM_000445.5(PLEC):c.6464G>A (p.Arg2155Gln) rs201895791
NM_000445.5(PLEC):c.6466G>A (p.Ala2156Thr)
NM_000445.5(PLEC):c.6466G>T (p.Ala2156Ser) rs782449012
NM_000445.5(PLEC):c.6480G>A (p.Ala2160=) rs375489890
NM_000445.5(PLEC):c.6497G>A (p.Arg2166His) rs372652727
NM_000445.5(PLEC):c.6498C>T (p.Arg2166=)
NM_000445.5(PLEC):c.6505G>A (p.Ala2169Thr) rs370942881
NM_000445.5(PLEC):c.6507C>T (p.Ala2169=) rs200062782
NM_000445.5(PLEC):c.6519G>A (p.Ala2173=) rs374211586
NM_000445.5(PLEC):c.6536C>T (p.Ala2179Val) rs200758669
NM_000445.5(PLEC):c.6545C>T (p.Ala2182Val) rs201922111
NM_000445.5(PLEC):c.6550C>G (p.Leu2184Val) rs558775133
NM_000445.5(PLEC):c.6554G>A (p.Arg2185Gln)
NM_000445.5(PLEC):c.6569C>G (p.Ala2190Gly) rs201845757
NM_000445.5(PLEC):c.6573C>G (p.Asp2191Glu)
NM_000445.5(PLEC):c.6573C>T (p.Asp2191=) rs575031901
NM_000445.5(PLEC):c.6588G>A (p.Lys2196=) rs199866902
NM_000445.5(PLEC):c.6594G>A (p.Lys2198=) rs184102912
NM_000445.5(PLEC):c.6600C>G (p.Phe2200Leu)
NM_000445.5(PLEC):c.6611C>T (p.Thr2204Met) rs1312954051
NM_000445.5(PLEC):c.6617G>A (p.Arg2206Gln) rs117962829
NM_000445.5(PLEC):c.6658C>T (p.Leu2220=) rs28610521
NM_000445.5(PLEC):c.6675C>T (p.Thr2225=) rs144242254
NM_000445.5(PLEC):c.6676G>A (p.Asp2226Asn)
NM_000445.5(PLEC):c.6713G>A (p.Arg2238Gln)
NM_000445.5(PLEC):c.6723G>A (p.Ala2241=) rs559736151
NM_000445.5(PLEC):c.6742C>T (p.Arg2248Cys)
NM_000445.5(PLEC):c.6743G>A (p.Arg2248His)
NM_000445.5(PLEC):c.6743G>T (p.Arg2248Leu) rs782458946
NM_000445.5(PLEC):c.6776C>T (p.Ser2259Leu)
NM_000445.5(PLEC):c.6784G>A (p.Val2262Met)
NM_000445.5(PLEC):c.6810C>T (p.Leu2270=) rs368880818
NM_000445.5(PLEC):c.6818G>A (p.Arg2273His) rs1444747601
NM_000445.5(PLEC):c.6822C>T (p.Ile2274=) rs62641755
NM_000445.5(PLEC):c.683+4C>G
NM_000445.5(PLEC):c.683+5A>G rs200744982
NM_000445.5(PLEC):c.6838G>A (p.Ala2280Thr) rs62641756
NM_000445.5(PLEC):c.6840A>G (p.Ala2280=) rs201054298
NM_000445.5(PLEC):c.6841C>T (p.Leu2281Phe)
NM_000445.5(PLEC):c.6844A>T (p.Ile2282Phe)
NM_000445.5(PLEC):c.6851G>A (p.Arg2284His) rs376311731
NM_000445.5(PLEC):c.6859G>A (p.Asp2287Asn) rs371763907
NM_000445.5(PLEC):c.6862A>G (p.Asn2288Asp)
NM_000445.5(PLEC):c.6863A>G (p.Asn2288Ser)
NM_000445.5(PLEC):c.6872G>A (p.Arg2291His) rs201661279
NM_000445.5(PLEC):c.6878T>C (p.Leu2293Pro)
NM_000445.5(PLEC):c.6883G>A (p.Glu2295Lys)
NM_000445.5(PLEC):c.6912G>A (p.Ala2304=) rs782818595
NM_000445.5(PLEC):c.6921C>T (p.Ala2307=) rs202182619
NM_000445.5(PLEC):c.6922G>A (p.Ala2308Thr) rs200618217
NM_000445.5(PLEC):c.6923C>T (p.Ala2308Val) rs371130595
NM_000445.5(PLEC):c.6938C>T (p.Ala2313Val)
NM_000445.5(PLEC):c.6939G>A (p.Ala2313=) rs200335976
NM_000445.5(PLEC):c.6953C>T (p.Ala2318Val) rs547807861
NM_000445.5(PLEC):c.6961C>T (p.Arg2321Trp) rs1367010956
NM_000445.5(PLEC):c.6994C>T (p.Arg2332Trp)
NM_000445.5(PLEC):c.6G>A (p.Ser2=) rs782622551
NM_000445.5(PLEC):c.7018A>G (p.Lys2340Glu) rs1554691104
NM_000445.5(PLEC):c.7034C>T (p.Ala2345Val)
NM_000445.5(PLEC):c.7050G>A (p.Thr2350=) rs531846605
NM_000445.5(PLEC):c.7125G>C (p.Glu2375Asp) rs782060299
NM_000445.5(PLEC):c.7142C>T (p.Ala2381Val) rs370003608
NM_000445.5(PLEC):c.7143G>A (p.Ala2381=) rs375587611
NM_000445.5(PLEC):c.7154C>T (p.Ala2385Val)
NM_000445.5(PLEC):c.7155G>A (p.Ala2385=) rs146381488
NM_000445.5(PLEC):c.716G>A (p.Arg239Gln)
NM_000445.5(PLEC):c.7179G>T (p.Arg2393=) rs79489944
NM_000445.5(PLEC):c.7181C>T (p.Thr2394Met)
NM_000445.5(PLEC):c.7182G>A (p.Thr2394=) rs202132558
NM_000445.5(PLEC):c.7187A>C (p.Glu2396Ala)
NM_000445.5(PLEC):c.7191C>T (p.Ala2397=) rs80143277
NM_000445.5(PLEC):c.7202G>A (p.Arg2401Gln) rs201417343
NM_000445.5(PLEC):c.7232G>A (p.Arg2411His) rs201594706
NM_000445.5(PLEC):c.7242G>A (p.Leu2414=) rs781982762
NM_000445.5(PLEC):c.7252G>A (p.Glu2418Lys) rs368939666
NM_000445.5(PLEC):c.7273C>T (p.Arg2425Cys) rs200880699
NM_000445.5(PLEC):c.7301G>A (p.Arg2434Gln) rs782618396
NM_000445.5(PLEC):c.7310C>T (p.Ala2437Val) rs543422533
NM_000445.5(PLEC):c.7312_7314GAG[1] (p.Glu2439del) rs782750670
NM_000445.5(PLEC):c.7341G>A (p.Thr2447=) rs34490562
NM_000445.5(PLEC):c.7347C>T (p.Leu2449=) rs117306121
NM_000445.5(PLEC):c.7348G>A (p.Ala2450Thr) rs193257576
NM_000445.5(PLEC):c.7359G>T (p.Glu2453Asp) rs1554690114
NM_000445.5(PLEC):c.7394G>A (p.Arg2465Gln) rs781835780
NM_000445.5(PLEC):c.7401G>C (p.Gln2467His) rs1554689985
NM_000445.5(PLEC):c.7420C>T (p.Arg2474Cys) rs781936848
NM_000445.5(PLEC):c.7424T>A (p.Leu2475Gln) rs1554689907
NM_000445.5(PLEC):c.7427G>A (p.Arg2476Gln)
NM_000445.5(PLEC):c.7441G>C (p.Glu2481Gln)
NM_000445.5(PLEC):c.7450C>T (p.Arg2484Cys) rs200652637
NM_000445.5(PLEC):c.7451G>A (p.Arg2484His) rs199504105
NM_000445.5(PLEC):c.7451G>C (p.Arg2484Pro) rs199504105
NM_000445.5(PLEC):c.7464G>T (p.Lys2488Asn) rs371673069
NM_000445.5(PLEC):c.7474G>A (p.Glu2492Lys)
NM_000445.5(PLEC):c.7488G>T (p.Leu2496=) rs1472405455
NM_000445.5(PLEC):c.7507-9C>T rs782247843
NM_000445.5(PLEC):c.7522C>G (p.Gln2508Glu) rs782016209
NM_000445.5(PLEC):c.7545G>A (p.Thr2515=) rs560896222
NM_000445.5(PLEC):c.7577A>C (p.Lys2526Thr) rs1338861681
NM_000445.5(PLEC):c.7585_7588del (p.Leu2529fs) rs1554689309
NM_000445.5(PLEC):c.7587G>A (p.Leu2529=) rs187725817
NM_000445.5(PLEC):c.7595G>A (p.Arg2532Gln) rs782664854
NM_000445.5(PLEC):c.763C>T (p.Arg255Trp) rs200249446
NM_000445.5(PLEC):c.7659G>C (p.Lys2553Asn)
NM_000445.5(PLEC):c.7687C>T (p.Arg2563Trp)
NM_000445.5(PLEC):c.7688G>A (p.Arg2563Gln)
NM_000445.5(PLEC):c.7688_7696del (p.Arg2563_Gln2565del)
NM_000445.5(PLEC):c.7691A>G (p.Gln2564Arg) rs781861513
NM_000445.5(PLEC):c.7738G>A (p.Glu2580Lys)
NM_000445.5(PLEC):c.7750C>T (p.Arg2584Trp) rs201569045
NM_000445.5(PLEC):c.7767C>T (p.Ala2589=) rs534269714
NM_000445.5(PLEC):c.7768G>A (p.Glu2590Lys)
NM_000445.5(PLEC):c.7777G>A (p.Val2593Met) rs782743395
NM_000445.5(PLEC):c.7807C>T (p.Leu2603=) rs11988293
NM_000445.5(PLEC):c.7822C>T (p.Arg2608Trp) rs782485083
NM_000445.5(PLEC):c.7834G>C (p.Glu2612Gln) rs200488179
NM_000445.5(PLEC):c.7839G>C (p.Leu2613=) rs1554688142
NM_000445.5(PLEC):c.7865G>A (p.Arg2622His) rs782343962
NM_000445.5(PLEC):c.7898G>A (p.Arg2633Gln) rs544874132
NM_000445.5(PLEC):c.7902C>T (p.Ala2634=) rs398123402
NM_000445.5(PLEC):c.7903G>A (p.Ala2635Thr) rs199995144
NM_000445.5(PLEC):c.7904C>T (p.Ala2635Val) rs370351676
NM_000445.5(PLEC):c.7911G>A (p.Ala2637=) rs376112916
NM_000445.5(PLEC):c.7911G>T (p.Ala2637=) rs376112916
NM_000445.5(PLEC):c.7917_7919del (p.Glu2641del)
NM_000445.5(PLEC):c.7961C>G (p.Pro2654Arg) rs184879368
NM_000445.5(PLEC):c.7970G>A (p.Arg2657Gln)
NM_000445.5(PLEC):c.799+5G>A
NM_000445.5(PLEC):c.8006C>A (p.Pro2669Gln) rs782183501
NM_000445.5(PLEC):c.8006C>T (p.Pro2669Leu) rs782183501
NM_000445.5(PLEC):c.8009A>G (p.Glu2670Gly)
NM_000445.5(PLEC):c.8030G>A (p.Arg2677Gln) rs1554687458
NM_000445.5(PLEC):c.8032C>T (p.Arg2678Trp) rs145977158
NM_000445.5(PLEC):c.8033G>A (p.Arg2678Gln)
NM_000445.5(PLEC):c.8079G>A (p.Ala2693=) rs367665604
NM_000445.5(PLEC):c.8093G>A (p.Arg2698Gln) rs28526657
NM_000445.5(PLEC):c.8114C>T (p.Thr2705Met) rs201093335
NM_000445.5(PLEC):c.8115G>A (p.Thr2705=) rs782195564
NM_000445.5(PLEC):c.8121C>T (p.Asp2707=) rs373341589
NM_000445.5(PLEC):c.8122G>A (p.Glu2708Lys) rs200128670
NM_000445.5(PLEC):c.8127C>T (p.Leu2709=) rs375590561
NM_000445.5(PLEC):c.8131C>T (p.Arg2711Trp) rs35723243
NM_000445.5(PLEC):c.8132G>A (p.Arg2711Gln) rs200239963
NM_000445.5(PLEC):c.8143G>A (p.Val2715Met) rs562229143
NM_000445.5(PLEC):c.8146C>T (p.Arg2716Cys) rs373228579
NM_000445.5(PLEC):c.8147G>A (p.Arg2716His) rs782161008
NM_000445.5(PLEC):c.8173A>G (p.Ile2725Val) rs1473847985
NM_000445.5(PLEC):c.8201A>G (p.Asn2734Ser) rs782802158
NM_000445.5(PLEC):c.8250C>T (p.Pro2750=) rs375387549
NM_000445.5(PLEC):c.8256G>C (p.Thr2752=) rs1209777415
NM_000445.5(PLEC):c.8263A>G (p.Ile2755Val) rs200061415
NM_000445.5(PLEC):c.8282C>T (p.Ala2761Val) rs200202579
NM_000445.5(PLEC):c.8308G>A (p.Val2770Met)
NM_000445.5(PLEC):c.8317C>T (p.Arg2773Trp) rs782075235
NM_000445.5(PLEC):c.8321G>A (p.Arg2774Gln)
NM_000445.5(PLEC):c.8333A>G (p.Asn2778Ser)
NM_000445.5(PLEC):c.8387C>T (p.Ser2796Leu) rs368412208
NM_000445.5(PLEC):c.8396G>A (p.Arg2799His) rs201916690
NM_000445.5(PLEC):c.8397C>T (p.Arg2799=) rs782420340
NM_000445.5(PLEC):c.8398G>A (p.Ala2800Thr)
NM_000445.5(PLEC):c.8400C>T (p.Ala2800=) rs34534853
NM_000445.5(PLEC):c.840C>T (p.Thr280=) rs377118309
NM_000445.5(PLEC):c.8410T>C (p.Tyr2804His) rs1554685965
NM_000445.5(PLEC):c.8425A>G (p.Thr2809Ala) rs782190805
NM_000445.5(PLEC):c.8452G>A (p.Ala2818Thr) rs529109624
NM_000445.5(PLEC):c.8491C>T (p.Arg2831Cys)
NM_000445.5(PLEC):c.8492G>A (p.Arg2831His)
NM_000445.5(PLEC):c.8511C>G (p.Ile2837Met) rs62641758
NM_000445.5(PLEC):c.8511C>T (p.Ile2837=) rs62641758
NM_000445.5(PLEC):c.8520C>T (p.Gly2840=) rs201932982
NM_000445.5(PLEC):c.8523C>T (p.Gly2841=) rs186703073
NM_000445.5(PLEC):c.8526T>C (p.Val2842=) rs371421350
NM_000445.5(PLEC):c.8535C>T (p.Pro2845=) rs782419323
NM_000445.5(PLEC):c.853C>T (p.Leu285=) rs372233686
NM_000445.5(PLEC):c.8542A>T (p.Ser2848Cys) rs1425678539
NM_000445.5(PLEC):c.8549G>A (p.Arg2850His)
NM_000445.5(PLEC):c.8570A>G (p.Tyr2857Cys) rs199720608
NM_000445.5(PLEC):c.8575C>T (p.Arg2859Cys) rs782165745
NM_000445.5(PLEC):c.8578G>A (p.Gly2860Ser) rs782099953
NM_000445.5(PLEC):c.8587G>A (p.Asp2863Asn) rs200814155
NM_000445.5(PLEC):c.8590G>A (p.Glu2864Lys) rs199661077
NM_000445.5(PLEC):c.8593G>A (p.Glu2865Lys) rs201166060
NM_000445.5(PLEC):c.8603G>A (p.Arg2868His)
NM_000445.5(PLEC):c.8611G>T (p.Ala2871Ser) rs1554684937
NM_000445.5(PLEC):c.8613G>C (p.Ala2871=) rs782732824
NM_000445.5(PLEC):c.8626G>A (p.Asp2876Asn) rs200360391
NM_000445.5(PLEC):c.8643T>C (p.Phe2881=) rs782794582
NM_000445.5(PLEC):c.8654C>T (p.Thr2885Met)
NM_000445.5(PLEC):c.8668A>T (p.Thr2890Ser)
NM_000445.5(PLEC):c.8698G>A (p.Glu2900Lys) rs377748878
NM_000445.5(PLEC):c.8706C>T (p.Pro2902=) rs183401234
NM_000445.5(PLEC):c.8711C>T (p.Thr2904Met) rs201565643
NM_000445.5(PLEC):c.872G>A (p.Arg291His)
NM_000445.5(PLEC):c.873C>T (p.Arg291=) rs782391508
NM_000445.5(PLEC):c.8750A>C (p.Lys2917Thr) rs1554684207
NM_000445.5(PLEC):c.8809G>A (p.Val2937Met)
NM_000445.5(PLEC):c.8819C>T (p.Pro2940Leu)
NM_000445.5(PLEC):c.8823C>T (p.Phe2941=) rs201211875
NM_000445.5(PLEC):c.882C>T (p.Asp294=) rs202218097
NM_000445.5(PLEC):c.8843C>T (p.Thr2948Met) rs191036710
NM_000445.5(PLEC):c.8880C>T (p.Phe2960=) rs371751910
NM_000445.5(PLEC):c.8882C>T (p.Thr2961Met) rs368122904
NM_000445.5(PLEC):c.8883G>A (p.Thr2961=) rs782395875
NM_000445.5(PLEC):c.8901C>G (p.Asp2967Glu) rs58308209
NM_000445.5(PLEC):c.8908C>T (p.Arg2970Trp)
NM_000445.5(PLEC):c.8926C>T (p.Arg2976Trp) rs202241157
NM_000445.5(PLEC):c.8974_8979GAGCAG[1] (p.2992_2993EQ[1]) rs782298339
NM_000445.5(PLEC):c.8979G>T (p.Gln2993His) rs1460695341
NM_000445.5(PLEC):c.9013C>T (p.Arg3005Cys) rs782297488
NM_000445.5(PLEC):c.9014G>A (p.Arg3005His)
NM_000445.5(PLEC):c.9062G>A (p.Arg3021His) rs200970115
NM_000445.5(PLEC):c.9063C>T (p.Arg3021=) rs199939619
NM_000445.5(PLEC):c.906C>T (p.Asn302=) rs113133985
NM_000445.5(PLEC):c.9081_9082delinsTT (p.Gln3028Ter) rs1554683108
NM_000445.5(PLEC):c.9095G>A (p.Arg3032His) rs369581930
NM_000445.5(PLEC):c.9104G>A (p.Arg3035Gln) rs200176579
NM_000445.5(PLEC):c.9109G>A (p.Val3037Ile)
NM_000445.5(PLEC):c.9115G>A (p.Glu3039Lys) rs200898220
NM_000445.5(PLEC):c.9130C>T (p.Arg3044Trp) rs201041716
NM_000445.5(PLEC):c.9133C>T (p.Arg3045Trp)
NM_000445.5(PLEC):c.9152A>G (p.Asn3051Ser) rs535089650
NM_000445.5(PLEC):c.9152A>T (p.Asn3051Ile)
NM_000445.5(PLEC):c.9154G>A (p.Val3052Ile) rs35027700
NM_000445.5(PLEC):c.9159C>T (p.Ile3053=) rs201586456
NM_000445.5(PLEC):c.9161C>T (p.Ala3054Val)
NM_000445.5(PLEC):c.9162G>A (p.Ala3054=) rs199758196
NM_000445.5(PLEC):c.916C>T (p.Leu306=) rs1554721575
NM_000445.5(PLEC):c.9197G>A (p.Ser3066Asn) rs374776968
NM_000445.5(PLEC):c.919C>T (p.Arg307Cys) rs372997489
NM_000445.5(PLEC):c.9301G>A (p.Ala3101Thr) rs369807832
NM_000445.5(PLEC):c.9304C>T (p.Arg3102Trp) rs376638828
NM_000445.5(PLEC):c.9320A>G (p.Glu3107Gly) rs200069306
NM_000445.5(PLEC):c.9322G>A (p.Ala3108Thr)
NM_000445.5(PLEC):c.9323C>T (p.Ala3108Val) rs782121895
NM_000445.5(PLEC):c.9325G>A (p.Val3109Met) rs1180116791
NM_000445.5(PLEC):c.9328C>T (p.Arg3110Cys) rs201455467
NM_000445.5(PLEC):c.934C>T (p.Arg312Trp)
NM_000445.5(PLEC):c.935G>A (p.Arg312Gln) rs188076386
NM_000445.5(PLEC):c.9371C>T (p.Ser3124Leu) rs112196104
NM_000445.5(PLEC):c.9389C>T (p.Thr3130Ile)
NM_000445.5(PLEC):c.9396C>T (p.Tyr3132=) rs886044818
NM_000445.5(PLEC):c.9402C>T (p.Asp3134=) rs371887211
NM_000445.5(PLEC):c.9405C>T (p.Pro3135=) rs977397939
NM_000445.5(PLEC):c.9414G>A (p.Gly3138=) rs188739870
NM_000445.5(PLEC):c.9432C>T (p.Phe3144=) rs200895343
NM_000445.5(PLEC):c.9448G>T (p.Gly3150Cys)
NM_000445.5(PLEC):c.9449G>A (p.Gly3150Asp)
NM_000445.5(PLEC):c.9460C>T (p.Arg3154Trp)
NM_000445.5(PLEC):c.9461G>A (p.Arg3154Gln) rs552993354
NM_000445.5(PLEC):c.9475C>T (p.Arg3159Cys) rs370266957
NM_000445.5(PLEC):c.9489C>T (p.Ala3163=) rs77006429
NM_000445.5(PLEC):c.9501G>A (p.Thr3167=)
NM_000445.5(PLEC):c.9504C>T (p.Gly3168=) rs61529674
NM_000445.5(PLEC):c.9516C>T (p.Asp3172=) rs60091617
NM_000445.5(PLEC):c.9556G>A (p.Ala3186Thr) rs201030020
NM_000445.5(PLEC):c.9560G>A (p.Arg3187Gln)
NM_000445.5(PLEC):c.9562G>C (p.Gly3188Arg)
NM_000445.5(PLEC):c.9610G>A (p.Asp3204Asn) rs151050583
NM_000445.5(PLEC):c.9623A>T (p.Tyr3208Phe)
NM_000445.5(PLEC):c.9639A>G (p.Thr3213=) rs201102719
NM_000445.5(PLEC):c.9658G>T (p.Gly3220Cys) rs201402970
NM_000445.5(PLEC):c.9660C>T (p.Gly3220=) rs782053941
NM_000445.5(PLEC):c.9661G>A (p.Glu3221Lys) rs529809254
NM_000445.5(PLEC):c.966G>A (p.Met322Ile) rs201041690
NM_000445.5(PLEC):c.9684C>T (p.Pro3228=) rs538001056
NM_000445.5(PLEC):c.968G>A (p.Arg323Gln) rs138924815
NM_000445.5(PLEC):c.9713C>T (p.Pro3238Leu) rs781793644
NM_000445.5(PLEC):c.9714G>A (p.Pro3238=) rs199870482
NM_000445.5(PLEC):c.9724A>G (p.Lys3242Glu) rs782078326
NM_000445.5(PLEC):c.9733C>T (p.Arg3245Trp) rs368758264
NM_000445.5(PLEC):c.9739C>T (p.Arg3247Trp) rs200643300
NM_000445.5(PLEC):c.9744G>A (p.Gln3248=) rs1554680814
NM_000445.5(PLEC):c.9750G>T (p.Glu3250Asp)
NM_000445.5(PLEC):c.9755A>G (p.Tyr3252Cys) rs782582266
NM_000445.5(PLEC):c.9771C>T (p.Ala3257=) rs782488286
NM_000445.5(PLEC):c.978G>A (p.Thr326=) rs377035835
NM_000445.5(PLEC):c.9794C>T (p.Pro3265Leu) rs782085661
NM_000445.5(PLEC):c.9799G>A (p.Glu3267Lys) rs75857070
NM_000445.5(PLEC):c.9830C>T (p.Thr3277Met)
NM_000445.5(PLEC):c.9837G>A (p.Thr3279=) rs782717194
NM_000445.5(PLEC):c.9858T>A (p.Ser3286=) rs34644439
NM_000445.5(PLEC):c.9872C>T (p.Ala3291Val)
NM_000445.5(PLEC):c.9881G>A (p.Arg3294Gln) rs199603833
NM_000445.5(PLEC):c.9895C>G (p.Arg3299Gly)
NM_000445.5(PLEC):c.9895C>T (p.Arg3299Cys)
NM_000445.5(PLEC):c.9904C>T (p.Arg3302Cys) rs782733657
NM_000445.5(PLEC):c.9916G>C (p.Val3306Leu)
NM_000445.5(PLEC):c.9922G>A (p.Val3308Met) rs202005454
NM_000445.5(PLEC):c.9954C>T (p.Ile3318=) rs376133886
NM_000445.5(PLEC):c.9955G>A (p.Val3319Met) rs782650325
NM_000445.5(PLEC):c.9976C>T (p.Arg3326Trp) rs142805337
NM_000445.5(PLEC):c.9977G>A (p.Arg3326Gln) rs368318946

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