ClinVar Miner

List of variants reported as uncertain significance for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2768
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HGVS dbSNP
NC_000001.10:g.(?_40539713)_(40562930_?)dup
NC_000004.11:g.(?_128804417)_(129131208_?)dup
NC_000004.11:g.(?_128851818)_(128886308_?)dup
NC_000004.11:g.(?_128851838)_(128886363_?)dup
NC_000004.11:g.(?_77082846)_(77102274_?)dup
NC_000004.11:g.(?_77116840)_(77134716_?)dup
NC_000007.13:g.(?_66094032)_(66105401_?)dup
NC_000008.10:g.(?_1719201)_(1728753_?)dup
NC_000008.10:g.(?_27326852)_(27328711_?)del
NC_000009.11:g.(?_138594085)_(138606586_?)dup
NC_000009.11:g.(?_138594085)_(139440258_?)dup
NC_000009.11:g.(?_138651496)_(138651725_?)dup
NC_000009.11:g.(?_138667136)_(138680028_?)del
NC_000012.11:g.(?_42853591)_(42866338_?)dup
NC_000016.9:g.(?_10273835)_(10274288_?)dup
NC_000016.9:g.(?_136684)_(143343_?)del
NC_000016.9:g.(?_136684)_(188286_?)dup
NC_000016.9:g.(?_150350)_(150527_?)del
NC_000016.9:g.(?_160503)_(188286_?)dup
NC_000016.9:g.(?_167280)_(188286_?)dup
NC_000016.9:g.(?_180501)_(188286_?)dup
NC_000016.9:g.(?_188129)_(188286_?)dup
NC_000016.9:g.(?_28486664)_(28489218_?)dup
NC_000016.9:g.(?_28486664)_(28503100_?)dup
NC_000016.9:g.(?_28488817)_(28489218_?)dup
NC_000016.9:g.(?_28499892)_(28503100_?)dup
NC_000016.9:g.10106138_10417597dup
NC_000020.10:g.(?_61977556)_(62065276_?)del
NC_000020.10:g.(?_62559679)_(62562941_?)dup
NC_000020.10:g.(?_62559688)_(62567384_?)dup
NC_000021.8:g.(?_45194063)_(45196170_?)dup
NC_000022.10:g.(?_32253411)_(32302503_?)dup
NC_000022.10:g.(?_32297708)_(32302503_?)dup
NM_000086.2(CLN3):c.1003T>C (p.Ser335Pro) rs1567257016
NM_000086.2(CLN3):c.1012C>T (p.Arg338Cys) rs776725094
NM_000086.2(CLN3):c.1013G>A (p.Arg338His) rs557870972
NM_000086.2(CLN3):c.1033A>T (p.Thr345Ser) rs150986176
NM_000086.2(CLN3):c.1057-9del
NM_000086.2(CLN3):c.1069G>T (p.Val357Leu) rs1567254103
NM_000086.2(CLN3):c.1086C>G (p.Asp362Glu) rs376907245
NM_000086.2(CLN3):c.1087G>A (p.Val363Met) rs370963882
NM_000086.2(CLN3):c.1121T>C (p.Val374Ala)
NM_000086.2(CLN3):c.1132A>G (p.Ile378Val)
NM_000086.2(CLN3):c.1158C>T (p.Gly386=)
NM_000086.2(CLN3):c.1159G>A (p.Ala387Thr) rs768614719
NM_000086.2(CLN3):c.1186A>G (p.Ile396Val)
NM_000086.2(CLN3):c.1192C>G (p.Leu398Val)
NM_000086.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_000086.2(CLN3):c.1225A>G (p.Met409Val) rs776443981
NM_000086.2(CLN3):c.1240A>G (p.Ile414Val)
NM_000086.2(CLN3):c.1249A>G (p.Thr417Ala)
NM_000086.2(CLN3):c.125+3G>A rs775577824
NM_000086.2(CLN3):c.1256G>A (p.Gly419Glu) rs796052338
NM_000086.2(CLN3):c.1276C>G (p.Leu426Val)
NM_000086.2(CLN3):c.1291C>T (p.His431Tyr) rs759510380
NM_000086.2(CLN3):c.1305C>G (p.Cys435Trp)
NM_000086.2(CLN3):c.152C>T (p.Ser51Phe) rs780151271
NM_000086.2(CLN3):c.206C>T (p.Ser69Leu) rs769840061
NM_000086.2(CLN3):c.222T>C (p.His74=) rs201225986
NM_000086.2(CLN3):c.236C>T (p.Pro79Leu)
NM_000086.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617
NM_000086.2(CLN3):c.250C>A (p.His84Asn) rs201329358
NM_000086.2(CLN3):c.266G>A (p.Arg89Gln) rs766287694
NM_000086.2(CLN3):c.270T>G (p.Phe90Leu) rs145520962
NM_000086.2(CLN3):c.283G>A (p.Val95Ile)
NM_000086.2(CLN3):c.290C>T (p.Thr97Met) rs376421578
NM_000086.2(CLN3):c.291G>A (p.Thr97=)
NM_000086.2(CLN3):c.298G>C (p.Val100Leu)
NM_000086.2(CLN3):c.309G>A (p.Ala103=) rs774996613
NM_000086.2(CLN3):c.361C>G (p.Leu121Val) rs752282954
NM_000086.2(CLN3):c.392G>A (p.Ser131Asn) rs144770450
NM_000086.2(CLN3):c.447G>T (p.Gly149=) rs779918787
NM_000086.2(CLN3):c.460+3G>A rs779238243
NM_000086.2(CLN3):c.461-3C>A rs181995380
NM_000086.2(CLN3):c.47-1G>A rs1555469477
NM_000086.2(CLN3):c.47-3C>T
NM_000086.2(CLN3):c.472G>A (p.Ala158Thr) rs386833723
NM_000086.2(CLN3):c.49G>A (p.Glu17Lys) rs386833726
NM_000086.2(CLN3):c.565G>A (p.Gly189Arg)
NM_000086.2(CLN3):c.568G>A (p.Gly190Arg) rs1311480802
NM_000086.2(CLN3):c.616G>A (p.Gly206Ser) rs370603922
NM_000086.2(CLN3):c.626C>T (p.Pro209Leu) rs139417824
NM_000086.2(CLN3):c.644C>A (p.Ser215Tyr) rs1328657534
NM_000086.2(CLN3):c.649C>A (p.Leu217Met) rs150913606
NM_000086.2(CLN3):c.67C>T (p.Pro23Ser) rs757558651
NM_000086.2(CLN3):c.688T>A (p.Leu230Met)
NM_000086.2(CLN3):c.725_727AAG[2] (p.Glu244del) rs796052340
NM_000086.2(CLN3):c.734_736del (p.Ala245del) rs776966610
NM_000086.2(CLN3):c.748C>T (p.Arg250Trp) rs764881080
NM_000086.2(CLN3):c.776C>T (p.Pro259Leu) rs137858807
NM_000086.2(CLN3):c.832T>A (p.Phe278Ile) rs1567257709
NM_000086.2(CLN3):c.837+4C>T
NM_000086.2(CLN3):c.837+5G>A rs756848924
NM_000086.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_000086.2(CLN3):c.868G>T (p.Val290Leu) rs369008702
NM_000086.2(CLN3):c.89A>G (p.His30Arg) rs1399199073
NM_000086.2(CLN3):c.8G>A (p.Gly3Asp) rs756062000
NM_000086.2(CLN3):c.988G>A (p.Val330Ile) rs386833744
NM_000100.3(CSTB):c.*227A>G rs886057112
NM_000100.3(CSTB):c.*301G>A rs886057111
NM_000100.3(CSTB):c.*355C>G rs143062585
NM_000100.3(CSTB):c.*435G>A rs149039598
NM_000100.3(CSTB):c.*69A>G rs142767585
NM_000100.3(CSTB):c.-42C>T rs776181852
NM_000100.3(CSTB):c.-43C>G rs886057113
NM_000100.3(CSTB):c.-55G>A rs533879406
NM_000100.3(CSTB):c.158A>G (p.Tyr53Cys)
NM_000100.3(CSTB):c.169-14C>T rs757593576
NM_000100.3(CSTB):c.169G>A (p.Val57Met) rs796052394
NM_000100.3(CSTB):c.175G>A (p.Val59Ile)
NM_000100.3(CSTB):c.191T>G (p.Phe64Cys) rs1569005540
NM_000100.3(CSTB):c.193G>A (p.Val65Ile) rs570768038
NM_000100.3(CSTB):c.1_2insAT (p.Met1fs) rs1044894207
NM_000100.3(CSTB):c.203G>C (p.Arg68Pro) rs757707761
NM_000100.3(CSTB):c.221C>T (p.Pro74Leu)
NM_000100.3(CSTB):c.28C>G (p.Gln10Glu) rs1399970116
NM_000100.3(CSTB):c.290A>G (p.Tyr97Cys) rs1186810947
NM_000100.3(CSTB):c.29A>C (p.Gln10Pro) rs569851503
NM_000100.3(CSTB):c.55A>G (p.Ile19Val) rs1349028244
NM_000100.3(CSTB):c.67-3T>C rs6383
NM_000310.3(PPT1):c.*3C>A rs150454815
NM_000310.3(PPT1):c.*529_*530insAGCA rs1553166029
NM_000310.3(PPT1):c.*529_*530insATCG rs1475500814
NM_000310.3(PPT1):c.*529_*530insGTCA rs1553166030
NM_000310.3(PPT1):c.124+6T>C rs759641557
NM_000310.3(PPT1):c.147A>C (p.Leu49Phe) rs781048683
NM_000310.3(PPT1):c.175G>A (p.Glu59Lys) rs750533343
NM_000310.3(PPT1):c.175_177del (p.Glu59del) rs1553167495
NM_000310.3(PPT1):c.17G>A (p.Cys6Tyr) rs202241486
NM_000310.3(PPT1):c.234+7C>T rs200777536
NM_000310.3(PPT1):c.239T>G (p.Val80Gly)
NM_000310.3(PPT1):c.272A>C (p.Gln91Pro) rs386833639
NM_000310.3(PPT1):c.282A>G (p.Thr94=)
NM_000310.3(PPT1):c.283G>A (p.Val95Met)
NM_000310.3(PPT1):c.287G>A (p.Cys96Tyr) rs386833640
NM_000310.3(PPT1):c.310A>G (p.Lys104Glu) rs386833641
NM_000310.3(PPT1):c.329A>G (p.Asn110Ser) rs142894102
NM_000310.3(PPT1):c.362+4C>T rs534592472
NM_000310.3(PPT1):c.363G>T (p.Leu121=)
NM_000310.3(PPT1):c.38C>G (p.Ala13Gly) rs1057515557
NM_000310.3(PPT1):c.413C>T (p.Ser138Leu) rs386833646
NM_000310.3(PPT1):c.426A>G (p.Gln142=)
NM_000310.3(PPT1):c.433+5C>A
NM_000310.3(PPT1):c.445C>A (p.Leu149Ile) rs775899980
NM_000310.3(PPT1):c.509G>A (p.Gly170Glu) rs1553167257
NM_000310.3(PPT1):c.535C>T (p.Arg179Cys) rs560471003
NM_000310.3(PPT1):c.536+5G>T rs1208757133
NM_000310.3(PPT1):c.536G>A (p.Arg179His) rs370069880
NM_000310.3(PPT1):c.572A>C (p.Lys191Thr) rs1557708208
NM_000310.3(PPT1):c.574G>A (p.Glu192Lys) rs1557708202
NM_000310.3(PPT1):c.586C>T (p.Arg196Cys) rs376715840
NM_000310.3(PPT1):c.587G>A (p.Arg196His)
NM_000310.3(PPT1):c.59C>T (p.Ala20Val) rs1187613034
NM_000310.3(PPT1):c.628G>C (p.Gly210Arg)
NM_000310.3(PPT1):c.646A>G (p.Lys216Glu) rs766163400
NM_000310.3(PPT1):c.676G>A (p.Val226Met) rs375190067
NM_000310.3(PPT1):c.71T>C (p.Leu24Pro) rs746667989
NM_000310.3(PPT1):c.722C>T (p.Ser241Leu) rs746043871
NM_000310.3(PPT1):c.769C>A (p.Pro257Thr) rs201313087
NM_000310.3(PPT1):c.802C>T (p.Arg268Cys) rs200813294
NM_000310.3(PPT1):c.817G>A (p.Glu273Lys) rs1193191643
NM_000310.3(PPT1):c.856G>A (p.Glu286Lys)
NM_000310.3(PPT1):c.875T>C (p.Leu292Ser) rs199708990
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000310.3(PPT1):c.914T>G (p.Leu305Arg) rs386833671
NM_000391.4(TPP1):c.1009A>C (p.Ile337Leu)
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) rs138448968
NM_000391.4(TPP1):c.1042_1047del (p.Ala348_Ala349del) rs1554901785
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) rs1554901784
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu) rs1564854760
NM_000391.4(TPP1):c.1123C>T (p.Arg375Cys)
NM_000391.4(TPP1):c.1134C>G (p.Phe378Leu) rs1554901719
NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr) rs190013230
NM_000391.4(TPP1):c.1145G>C (p.Ser382Thr)
NM_000391.4(TPP1):c.1181A>G (p.Gln394Arg) rs796053442
NM_000391.4(TPP1):c.1192C>T (p.Leu398Phe) rs149319579
NM_000391.4(TPP1):c.119G>A (p.Arg40His)
NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly) rs1471156821
NM_000391.4(TPP1):c.1208T>C (p.Ile403Thr) rs1564854446
NM_000391.4(TPP1):c.1217A>G (p.Tyr406Cys) rs780670020
NM_000391.4(TPP1):c.123G>A (p.Ala41=) rs747260298
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) rs146798796
NM_000391.4(TPP1):c.1252C>T (p.Arg418Trp)
NM_000391.4(TPP1):c.127C>G (p.Pro43Ala) rs1314595290
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) rs201034755
NM_000391.4(TPP1):c.1303C>G (p.His435Asp) rs755829911
NM_000391.4(TPP1):c.1307T>C (p.Leu436Pro) rs150039898
NM_000391.4(TPP1):c.1328A>G (p.Asn443Ser) rs139343938
NM_000391.4(TPP1):c.1351G>T (p.Asp451Tyr)
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala) rs756530648
NM_000391.4(TPP1):c.1451T>C (p.Ile484Thr) rs748533410
NM_000391.4(TPP1):c.1466A>G (p.Asn489Ser) rs751645191
NM_000391.4(TPP1):c.1489C>T (p.Arg497Cys) rs377700188
NM_000391.4(TPP1):c.1490G>A (p.Arg497His) rs549928656
NM_000391.4(TPP1):c.1495C>G (p.Pro499Ala) rs201126448
NM_000391.4(TPP1):c.1496C>G (p.Pro499Arg) rs773707856
NM_000391.4(TPP1):c.1496C>T (p.Pro499Leu) rs773707856
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg) rs149529997
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer) rs763961289
NM_000391.4(TPP1):c.1552-4del
NM_000391.4(TPP1):c.1558C>T (p.Arg520Cys)
NM_000391.4(TPP1):c.1559G>A (p.Arg520His)
NM_000391.4(TPP1):c.1613C>G (p.Ser538Cys)
NM_000391.4(TPP1):c.163C>G (p.Gln55Glu)
NM_000391.4(TPP1):c.1642T>C (p.Trp548Arg) rs1348967263
NM_000391.4(TPP1):c.1664C>A (p.Ala555Asp) rs200880556
NM_000391.4(TPP1):c.17G>C (p.Cys6Ser)
NM_000391.4(TPP1):c.202G>A (p.Val68Met)
NM_000391.4(TPP1):c.209A>G (p.Asp70Gly)
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098
NM_000391.4(TPP1):c.295G>C (p.Val99Leu)
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg) rs201613668
NM_000391.4(TPP1):c.425T>G (p.Val142Gly) rs775217501
NM_000391.4(TPP1):c.437C>T (p.Thr146Met)
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro) rs1554902028
NM_000391.4(TPP1):c.497A>T (p.His166Leu) rs796053437
NM_000391.4(TPP1):c.508+2dup rs1554902017
NM_000391.4(TPP1):c.554G>A (p.Arg185His) rs773455971
NM_000391.4(TPP1):c.572C>T (p.Thr191Ile)
NM_000391.4(TPP1):c.626A>G (p.Tyr209Cys) rs1554901957
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn) rs202025584
NM_000391.4(TPP1):c.665A>C (p.Asn222Thr)
NM_000391.4(TPP1):c.687+6C>T rs768924191
NM_000391.4(TPP1):c.694G>A (p.Glu232Lys)
NM_000391.4(TPP1):c.731T>C (p.Met244Thr) rs1554901895
NM_000391.4(TPP1):c.734G>A (p.Arg245His)
NM_000391.4(TPP1):c.746G>T (p.Gly249Val)
NM_000391.4(TPP1):c.772G>T (p.Ala258Ser)
NM_000391.4(TPP1):c.775C>T (p.Arg259Cys)
NM_000391.4(TPP1):c.776G>A (p.Arg259His) rs140176031
NM_000391.4(TPP1):c.782T>C (p.Val261Ala)
NM_000391.4(TPP1):c.78C>A (p.Asp26Glu) rs760252179
NM_000391.4(TPP1):c.797G>A (p.Arg266Gln) rs757953998
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile) rs142163063
NM_000391.4(TPP1):c.808G>A (p.Gly270Arg) rs561854371
NM_000391.4(TPP1):c.812T>C (p.Ile271Thr)
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro) rs796053439
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln) rs369126677
NM_000391.4(TPP1):c.858C>A (p.Asn286Lys) rs1420315178
NM_000391.4(TPP1):c.866C>A (p.Thr289Asn) rs1426277822
NM_000391.4(TPP1):c.890G>A (p.Arg297Gln) rs796053441
NM_000391.4(TPP1):c.89C>A (p.Thr30Lys)
NM_000391.4(TPP1):c.947C>A (p.Ala316Asp) rs149463616
NM_000391.4(TPP1):c.956A>G (p.His319Arg)
NM_000391.4(TPP1):c.959T>G (p.Val320Gly) rs1314521780
NM_000726.4(CACNB4):c.*1501del rs886054963
NM_000726.4(CACNB4):c.*1501dup rs886054963
NM_000726.4(CACNB4):c.*151del rs79470866
NM_000726.4(CACNB4):c.*151dup rs79470866
NM_000726.4(CACNB4):c.*1520del rs374745796
NM_000726.4(CACNB4):c.*1635T>C rs886054962
NM_000726.4(CACNB4):c.*1785G>A rs886054961
NM_000726.4(CACNB4):c.*1811C>A rs886054960
NM_000726.4(CACNB4):c.*1826A>G rs886054959
NM_000726.4(CACNB4):c.*1931T>C rs886054958
NM_000726.4(CACNB4):c.*1937T>G rs758893086
NM_000726.4(CACNB4):c.*1952C>A rs764877003
NM_000726.4(CACNB4):c.*2542G>A rs886054957
NM_000726.4(CACNB4):c.*2924T>C rs886054956
NM_000726.4(CACNB4):c.*3387C>G rs886054955
NM_000726.4(CACNB4):c.*3688G>A rs886054954
NM_000726.4(CACNB4):c.*4081G>A rs148903851
NM_000726.4(CACNB4):c.*4145T>C rs781255950
NM_000726.4(CACNB4):c.*442_*443del rs886054966
NM_000726.4(CACNB4):c.*454del rs879114509
NM_000726.4(CACNB4):c.*454dup rs879114509
NM_000726.4(CACNB4):c.*4569A>G rs778742650
NM_000726.4(CACNB4):c.*4845T>C rs886054953
NM_000726.4(CACNB4):c.*4919G>A rs763593694
NM_000726.4(CACNB4):c.*5022A>G rs548177540
NM_000726.4(CACNB4):c.*5122C>T rs187940787
NM_000726.4(CACNB4):c.*5418T>C rs886054952
NM_000726.4(CACNB4):c.*5487T>C rs111700454
NM_000726.4(CACNB4):c.*5589+406dup rs886054949
NM_000726.4(CACNB4):c.*5863T>G rs886054951
NM_000726.4(CACNB4):c.*592T>C rs779110885
NM_000726.4(CACNB4):c.*5977G>T rs886054950
NM_000726.4(CACNB4):c.*624A>T rs755272601
NM_000726.4(CACNB4):c.*737C>T rs558590558
NM_000726.4(CACNB4):c.*795T>G rs766545084
NM_000726.4(CACNB4):c.-57G>T rs886054971
NM_000726.4(CACNB4):c.1278T>C (p.Tyr426=) rs376015337
NM_000726.4(CACNB4):c.187G>C (p.Asp63His) rs886054969
NM_000726.4(CACNB4):c.337G>T (p.Val113Phe) rs886054968
NM_000726.4(CACNB4):c.44C>G (p.Pro15Arg) rs200662010
NM_000726.4(CACNB4):c.5C>T (p.Ser2Phe) rs200092211
NM_000726.4(CACNB4):c.64-4C>T rs886054970
NM_000726.4(CACNB4):c.642T>C (p.Asp214=) rs886054967
NM_000726.4(CACNB4):c.91A>C (p.Ser31Arg) rs773391545
NM_000742.4(CHRNA2):c.1030G>A (p.Val344Ile) rs567044128
NM_000742.4(CHRNA2):c.1037C>A (p.Thr346Asn)
NM_000742.4(CHRNA2):c.1045G>C (p.Val349Leu) rs774279507
NM_000742.4(CHRNA2):c.1052A>G (p.Asn351Ser)
NM_000742.4(CHRNA2):c.1070C>T (p.Pro357Leu)
NM_000742.4(CHRNA2):c.1073G>T (p.Ser358Ile) rs74341575
NM_000742.4(CHRNA2):c.107C>T (p.Ala36Val) rs1313467019
NM_000742.4(CHRNA2):c.1099C>T (p.Arg367Trp) rs751699392
NM_000742.4(CHRNA2):c.1105dup (p.Ala369fs) rs757376257
NM_000742.4(CHRNA2):c.1117T>C (p.Cys373Arg) rs137965290
NM_000742.4(CHRNA2):c.1127G>A (p.Arg376Gln) rs374512926
NM_000742.4(CHRNA2):c.1144C>T (p.Arg382Trp)
NM_000742.4(CHRNA2):c.1180C>T (p.Arg394Cys) rs1060503072
NM_000742.4(CHRNA2):c.119C>T (p.Pro40Leu)
NM_000742.4(CHRNA2):c.121C>T (p.Leu41Phe) rs796052307
NM_000742.4(CHRNA2):c.1223T>C (p.Val408Ala) rs747909980
NM_000742.4(CHRNA2):c.1354G>T (p.Glu452Ter)
NM_000742.4(CHRNA2):c.1372G>A (p.Gly458Ser)
NM_000742.4(CHRNA2):c.1378C>A (p.Leu460Met)
NM_000742.4(CHRNA2):c.1393del (p.His465fs) rs1394301488
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771
NM_000742.4(CHRNA2):c.1418T>G (p.Val473Gly) rs150254933
NM_000742.4(CHRNA2):c.1432G>A (p.Asp478Asn)
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000742.4(CHRNA2):c.1441C>T (p.Arg481Trp)
NM_000742.4(CHRNA2):c.1464G>A (p.Ser488=) rs796052305
NM_000742.4(CHRNA2):c.1465-2A>G rs1279319311
NM_000742.4(CHRNA2):c.1481A>G (p.Lys494Arg)
NM_000742.4(CHRNA2):c.1516T>A (p.Trp506Arg) rs1012797739
NM_000742.4(CHRNA2):c.1528A>G (p.Ile510Val)
NM_000742.4(CHRNA2):c.1531G>A (p.Val511Ile)
NM_000742.4(CHRNA2):c.1568C>T (p.Pro523Leu) rs145238683
NM_000742.4(CHRNA2):c.161C>T (p.Ser54Leu)
NM_000742.4(CHRNA2):c.166A>T (p.Thr56Ser) rs144185168
NM_000742.4(CHRNA2):c.173C>T (p.Thr58Ile) rs151268950
NM_000742.4(CHRNA2):c.182G>A (p.Arg61Gln) rs568479156
NM_000742.4(CHRNA2):c.196C>G (p.Leu66Val) rs1473197891
NM_000742.4(CHRNA2):c.203G>A (p.Arg68Gln) rs548268816
NM_000742.4(CHRNA2):c.214C>T (p.Arg72Cys) rs201890355
NM_000742.4(CHRNA2):c.215G>A (p.Arg72His)
NM_000742.4(CHRNA2):c.215G>C (p.Arg72Pro) rs201922955
NM_000742.4(CHRNA2):c.322A>G (p.Asn108Asp) rs913563840
NM_000742.4(CHRNA2):c.325G>A (p.Val109Ile)
NM_000742.4(CHRNA2):c.444_446CAA[1] (p.Asn150del) rs758217117
NM_000742.4(CHRNA2):c.449+3A>T rs750588205
NM_000742.4(CHRNA2):c.485_491del (p.Lys162fs) rs1563319139
NM_000742.4(CHRNA2):c.537C>G (p.Tyr179Ter)
NM_000742.4(CHRNA2):c.543C>G (p.Ser181Arg)
NM_000742.4(CHRNA2):c.593A>T (p.Lys198Met)
NM_000742.4(CHRNA2):c.670G>A (p.Asp224Asn) rs781326114
NM_000742.4(CHRNA2):c.687C>T (p.Gly229=)
NM_000742.4(CHRNA2):c.695C>A (p.Ala232Asp) rs933808461
NM_000742.4(CHRNA2):c.701T>C (p.Val234Ala) rs768590131
NM_000742.4(CHRNA2):c.724A>G (p.Ser242Gly)
NM_000742.4(CHRNA2):c.729G>C (p.Lys243Asn)
NM_000742.4(CHRNA2):c.767C>A (p.Thr256Asn)
NM_000742.4(CHRNA2):c.772G>A (p.Ala258Thr) rs200372256
NM_000742.4(CHRNA2):c.799T>A (p.Phe267Ile) rs1554514530
NM_000742.4(CHRNA2):c.810C>G (p.Ile270Met) rs892421066
NM_000742.4(CHRNA2):c.860T>C (p.Phe287Ser) rs1060503073
NM_000742.4(CHRNA2):c.906G>A (p.Ser302=)
NM_000742.4(CHRNA2):c.91C>T (p.Arg31Cys)
NM_000742.4(CHRNA2):c.922A>C (p.Thr308Pro)
NM_000742.4(CHRNA2):c.929T>G (p.Phe310Cys) rs1563318247
NM_000742.4(CHRNA2):c.959C>A (p.Ser320Tyr) rs760884840
NM_000742.4(CHRNA2):c.985G>A (p.Gly329Ser) rs56371471
NM_000744.6(CHRNA4):c.1006C>T (p.Arg336Cys) rs56175056
NM_000744.6(CHRNA4):c.1007G>A (p.Arg336His) rs281865068
NM_000744.6(CHRNA4):c.1010C>T (p.Thr337Met)
NM_000744.6(CHRNA4):c.1033C>T (p.Arg345Cys) rs142260793
NM_000744.6(CHRNA4):c.1057C>A (p.Pro353Thr) rs201052218
NM_000744.6(CHRNA4):c.1060C>T (p.Arg354Cys) rs758534439
NM_000744.6(CHRNA4):c.1075A>T (p.Lys359Ter) rs1555837732
NM_000744.6(CHRNA4):c.1087G>A (p.Val363Met) rs121912266
NM_000744.6(CHRNA4):c.1139G>A (p.Ser380Asn)
NM_000744.6(CHRNA4):c.1148G>A (p.Arg383His) rs762374374
NM_000744.6(CHRNA4):c.1178dup (p.Ala394fs) rs1435638963
NM_000744.6(CHRNA4):c.1196A>G (p.Gln399Arg) rs781131183
NM_000744.6(CHRNA4):c.1214C>T (p.Ser405Leu) rs1568808891
NM_000744.6(CHRNA4):c.1220C>T (p.Ser407Phe) rs761335733
NM_000744.6(CHRNA4):c.1227_1228inv (p.Val410Ile)
NM_000744.6(CHRNA4):c.1245G>A (p.Pro415=) rs200164578
NM_000744.6(CHRNA4):c.1265G>A (p.Cys422Tyr) rs121912273
NM_000744.6(CHRNA4):c.1266C>T (p.Cys422=) rs121912274
NM_000744.6(CHRNA4):c.1269G>C (p.Lys423Asn) rs199916140
NM_000744.6(CHRNA4):c.1283A>T (p.Gln428Leu)
NM_000744.6(CHRNA4):c.1300C>A (p.Pro434Thr)
NM_000744.6(CHRNA4):c.1300C>T (p.Pro434Ser)
NM_000744.6(CHRNA4):c.1316A>C (p.Lys439Thr) rs796052318
NM_000744.6(CHRNA4):c.1327C>G (p.His443Asp) rs796052319
NM_000744.6(CHRNA4):c.1360G>A (p.Gly454Ser) rs78306886
NM_000744.6(CHRNA4):c.1369G>C (p.Ala457Pro)
NM_000744.6(CHRNA4):c.1373C>T (p.Pro458Leu) rs121912277
NM_000744.6(CHRNA4):c.1385A>C (p.Lys462Thr) rs1568808487
NM_000744.6(CHRNA4):c.138C>T (p.Ser46=) rs200705061
NM_000744.6(CHRNA4):c.1412T>C (p.Met471Thr) rs1317529556
NM_000744.6(CHRNA4):c.1415C>T (p.Ser472Phe) rs534477048
NM_000744.6(CHRNA4):c.1417A>G (p.Ser473Gly) rs1555837484
NM_000744.6(CHRNA4):c.1420C>T (p.Pro474Ser) rs773450609
NM_000744.6(CHRNA4):c.1425C>T (p.Gly475=) rs121912279
NM_000744.6(CHRNA4):c.1430C>T (p.Ala477Val) rs200243948
NM_000744.6(CHRNA4):c.1447C>T (p.Arg483Trp)
NM_000744.6(CHRNA4):c.1448G>A (p.Arg483Gln) rs55855125
NM_000744.6(CHRNA4):c.1459C>T (p.Arg487Trp) rs200200279
NM_000744.6(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280
NM_000744.6(CHRNA4):c.1484G>C (p.Arg495Pro) rs549863396
NM_000744.6(CHRNA4):c.1495G>A (p.Ala499Thr) rs150336658
NM_000744.6(CHRNA4):c.1510G>A (p.Gly504Ser) rs201244483
NM_000744.6(CHRNA4):c.1520C>T (p.Ala507Val) rs747883053
NM_000744.6(CHRNA4):c.1522G>A (p.Gly508Ser)
NM_000744.6(CHRNA4):c.1535C>G (p.Ser512Cys)
NM_000744.6(CHRNA4):c.1537C>T (p.Arg513Cys)
NM_000744.6(CHRNA4):c.1538G>A (p.Arg513His) rs868845088
NM_000744.6(CHRNA4):c.1576C>T (p.Pro526Ser) rs1064795533
NM_000744.6(CHRNA4):c.1609C>T (p.Pro537Ser) rs758895760
NM_000744.6(CHRNA4):c.1625C>T (p.Pro542Leu) rs121912281
NM_000744.6(CHRNA4):c.1634C>T (p.Thr545Met) rs121912282
NM_000744.6(CHRNA4):c.1637T>G (p.Val546Gly) rs764888239
NM_000744.6(CHRNA4):c.1663C>T (p.Pro555Ser)
NM_000744.6(CHRNA4):c.1667C>G (p.Pro556Arg) rs77345643
NM_000744.6(CHRNA4):c.1667C>T (p.Pro556Leu) rs77345643
NM_000744.6(CHRNA4):c.1670A>C (p.His557Pro) rs1282336623
NM_000744.6(CHRNA4):c.1697G>A (p.Arg566Gln) rs200810080
NM_000744.6(CHRNA4):c.1700C>G (p.Ala567Gly) rs76895198
NM_000744.6(CHRNA4):c.1700C>T (p.Ala567Val) rs76895198
NM_000744.6(CHRNA4):c.1711G>A (p.Val571Ile) rs121912285
NM_000744.6(CHRNA4):c.1715A>G (p.Gln572Arg) rs113794453
NM_000744.6(CHRNA4):c.1721T>C (p.Ile574Thr)
NM_000744.6(CHRNA4):c.1726G>A (p.Asp576Asn) rs537904499
NM_000744.6(CHRNA4):c.1746_1747CA[1] (p.Thr583fs) rs772170088
NM_000744.6(CHRNA4):c.1757C>T (p.Ser586Leu) rs200644872
NM_000744.6(CHRNA4):c.176C>T (p.Ser59Leu)
NM_000744.6(CHRNA4):c.1792A>G (p.Ile598Val) rs1019612389
NM_000744.6(CHRNA4):c.180C>G (p.Asp60Glu) rs112051150
NM_000744.6(CHRNA4):c.181G>T (p.Val61Leu) rs150451372
NM_000744.6(CHRNA4):c.1825G>A (p.Val609Ile) rs201168195
NM_000744.6(CHRNA4):c.1854C>G (p.Phe618Leu) rs1568805215
NM_000744.6(CHRNA4):c.1861C>A (p.Pro621Thr) rs199852690
NM_000744.6(CHRNA4):c.193C>T (p.Arg65Cys) rs748440038
NM_000744.6(CHRNA4):c.20G>C (p.Gly7Ala)
NM_000744.6(CHRNA4):c.211G>A (p.Ala71Thr) rs200527878
NM_000744.6(CHRNA4):c.229-10G>A
NM_000744.6(CHRNA4):c.229G>A (p.Asp77Asn) rs1204737071
NM_000744.6(CHRNA4):c.254C>T (p.Thr85Met) rs199699339
NM_000744.6(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027
NM_000744.6(CHRNA4):c.29_43dup (p.Arg10_Pro14dup) rs777630161
NM_000744.6(CHRNA4):c.301G>A (p.Asp101Asn)
NM_000744.6(CHRNA4):c.358C>T (p.Arg120Trp) rs200010568
NM_000744.6(CHRNA4):c.35T>C (p.Leu12Pro) rs1060503516
NM_000744.6(CHRNA4):c.362C>T (p.Pro121Leu)
NM_000744.6(CHRNA4):c.373C>T (p.Leu125Phe) rs1568816521
NM_000744.6(CHRNA4):c.38_49dup (p.Pro13_Leu16dup) rs1064794327
NM_000744.6(CHRNA4):c.38_52dup (p.Pro13_Leu17dup) rs771936944
NM_000744.6(CHRNA4):c.413T>A (p.Leu138Gln) rs1379403896
NM_000744.6(CHRNA4):c.442C>T (p.Arg148Trp) rs121912243
NM_000744.6(CHRNA4):c.448C>T (p.Gln150Ter)
NM_000744.6(CHRNA4):c.461C>T (p.Pro154Leu) rs121912244
NM_000744.6(CHRNA4):c.493G>A (p.Val165Ile) rs762764855
NM_000744.6(CHRNA4):c.496A>T (p.Thr166Ser) rs1568810867
NM_000744.6(CHRNA4):c.589C>T (p.Arg197Cys)
NM_000744.6(CHRNA4):c.590G>A (p.Arg197His)
NM_000744.6(CHRNA4):c.640G>A (p.Ala214Thr)
NM_000744.6(CHRNA4):c.678_679inv (p.Ala227Thr)
NM_000744.6(CHRNA4):c.683A>T (p.Glu228Val) rs1568810474
NM_000744.6(CHRNA4):c.712G>A (p.Val238Ile)
NM_000744.6(CHRNA4):c.727C>A (p.Pro243Thr) rs1568810345
NM_000744.6(CHRNA4):c.77C>T (p.Ala26Val)
NM_000744.6(CHRNA4):c.799C>T (p.Leu267=) rs121912256
NM_000744.6(CHRNA4):c.839C>G (p.Ser280Cys)
NM_000744.6(CHRNA4):c.841G>A (p.Val281Met)
NM_000744.6(CHRNA4):c.844C>G (p.Leu282Val)
NM_000744.6(CHRNA4):c.880G>A (p.Glu294Lys) rs201654194
NM_000744.6(CHRNA4):c.961A>G (p.Ile321Val) rs375340441
NM_000744.6(CHRNA4):c.964G>A (p.Val322Ile) rs779790555
NM_000744.6(CHRNA4):c.967A>G (p.Ile323Val)
NM_000748.3(CHRNB2):c.1033G>A (p.Ala345Thr)
NM_000748.3(CHRNB2):c.1034C>T (p.Ala345Val)
NM_000748.3(CHRNB2):c.105T>A (p.His35Gln) rs141689121
NM_000748.3(CHRNB2):c.106C>T (p.Leu36Phe) rs1557850747
NM_000748.3(CHRNB2):c.1103G>T (p.Arg368Leu)
NM_000748.3(CHRNB2):c.1157C>G (p.Ser386Cys)
NM_000748.3(CHRNB2):c.1161C>A (p.Cys387Ter) rs1409415937
NM_000748.3(CHRNB2):c.1180G>A (p.Ala394Thr) rs1557852162
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000748.3(CHRNB2):c.1231G>C (p.Ala411Pro) rs1225745274
NM_000748.3(CHRNB2):c.1234G>A (p.Gly412Ser) rs774449832
NM_000748.3(CHRNB2):c.1319G>A (p.Ser440Asn) rs1187024375
NM_000748.3(CHRNB2):c.1335G>C (p.Gln445His) rs1557852381
NM_000748.3(CHRNB2):c.1338+3G>T rs886348487
NM_000748.3(CHRNB2):c.1359C>G (p.Tyr453Ter)
NM_000748.3(CHRNB2):c.1372A>G (p.Ile458Val)
NM_000748.3(CHRNB2):c.1379G>A (p.Arg460His) rs1297214421
NM_000748.3(CHRNB2):c.1381C>T (p.Leu461Phe) rs1206411079
NM_000748.3(CHRNB2):c.154G>A (p.Gly52Ser) rs1553204015
NM_000748.3(CHRNB2):c.17G>A (p.Gly6Asp)
NM_000748.3(CHRNB2):c.255+6C>T
NM_000748.3(CHRNB2):c.272G>A (p.Arg91His) rs144508607
NM_000748.3(CHRNB2):c.316C>T (p.Arg106Trp)
NM_000748.3(CHRNB2):c.317G>A (p.Arg106Gln)
NM_000748.3(CHRNB2):c.360_362CAA[1] (p.Asn122del) rs796052329
NM_000748.3(CHRNB2):c.404C>T (p.Ala135Val) rs1060502835
NM_000748.3(CHRNB2):c.448A>G (p.Ile150Val) rs1557851437
NM_000748.3(CHRNB2):c.538C>T (p.Arg180Cys)
NM_000748.3(CHRNB2):c.539G>A (p.Arg180His)
NM_000748.3(CHRNB2):c.620C>G (p.Ala207Gly) rs201622476
NM_000748.3(CHRNB2):c.634C>T (p.Arg212Cys)
NM_000748.3(CHRNB2):c.640G>A (p.Glu214Lys) rs780175030
NM_000748.3(CHRNB2):c.691C>T (p.Arg231Cys) rs752986234
NM_000748.3(CHRNB2):c.734del (p.Cys245fs) rs780184576
NM_000748.3(CHRNB2):c.788G>A (p.Gly263Asp) rs373676452
NM_000748.3(CHRNB2):c.78G>A (p.Thr26=) rs143402032
NM_000748.3(CHRNB2):c.790G>A (p.Glu264Lys) rs1212070745
NM_000748.3(CHRNB2):c.892G>A (p.Gly298Ser)
NM_000748.3(CHRNB2):c.968A>G (p.His323Arg)
NM_000748.3(CHRNB2):c.991A>G (p.Met331Val) rs1207496178
NM_000806.5(GABRA1):c.*1319A>G rs886060367
NM_000806.5(GABRA1):c.*1443A>G rs575959204
NM_000806.5(GABRA1):c.*1512G>A rs886060368
NM_000806.5(GABRA1):c.*1526A>G rs540638714
NM_000806.5(GABRA1):c.*1601T>G rs886060369
NM_000806.5(GABRA1):c.*1659A>G rs886060370
NM_000806.5(GABRA1):c.*1837C>G rs886060371
NM_000806.5(GABRA1):c.*1971T>C rs886060372
NM_000806.5(GABRA1):c.*213C>T rs886060362
NM_000806.5(GABRA1):c.*2279G>A rs575186628
NM_000806.5(GABRA1):c.*2334C>T rs886060373
NM_000806.5(GABRA1):c.*302A>G rs886060364
NM_000806.5(GABRA1):c.*304del rs547262225
NM_000806.5(GABRA1):c.*413G>A rs886060365
NM_000806.5(GABRA1):c.*771C>T rs886060366
NM_000806.5(GABRA1):c.-10C>G rs376699435
NM_000806.5(GABRA1):c.-117_-112GACTCG[3] rs527890421
NM_000806.5(GABRA1):c.-195A>G rs886060359
NM_000806.5(GABRA1):c.-220T>C rs186477194
NM_000806.5(GABRA1):c.-247-5T>C rs766490931
NM_000806.5(GABRA1):c.-248+8C>A rs886060358
NM_000806.5(GABRA1):c.-405T>C rs181962869
NM_000806.5(GABRA1):c.-438del rs112361424
NM_000806.5(GABRA1):c.-439A>G rs886060357
NM_000806.5(GABRA1):c.-442dup rs201310567
NM_000806.5(GABRA1):c.-448G>A rs11576000
NM_000806.5(GABRA1):c.-448G>C rs11576000
NM_000806.5(GABRA1):c.-449G>C rs190043578
NM_000806.5(GABRA1):c.-455G>A rs531705924
NM_000806.5(GABRA1):c.1004A>T (p.Asn335Ile)
NM_000806.5(GABRA1):c.1070T>C (p.Val357Ala)
NM_000806.5(GABRA1):c.1206C>T (p.Pro402=) rs541335259
NM_000806.5(GABRA1):c.1225C>T (p.Pro409Ser) rs139793542
NM_000806.5(GABRA1):c.1228A>G (p.Lys410Glu) rs1424659316
NM_000806.5(GABRA1):c.1290A>G (p.Leu430=) rs886060361
NM_000806.5(GABRA1):c.1332C>G (p.Asn444Lys) rs1554087843
NM_000806.5(GABRA1):c.1351G>A (p.Ala451Thr) rs1312439667
NM_000806.5(GABRA1):c.485T>G (p.Val162Gly) rs1554085822
NM_000806.5(GABRA1):c.637T>A (p.Ser213Thr)
NM_000806.5(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_000806.5(GABRA1):c.649C>A (p.Gln217Lys) rs1554086437
NM_000806.5(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_000806.5(GABRA1):c.856+11A>G rs564871157
NM_000806.5(GABRA1):c.85C>T (p.Pro29Ser) rs143815396
NM_000806.5(GABRA1):c.920T>C (p.Val307Ala)
NM_000806.5(GABRA1):c.932C>T (p.Thr311Ile)
NM_000806.5(GABRA1):c.94C>A (p.Gln32Lys) rs769743354
NM_000806.5(GABRA1):c.954C>T (p.Ala318=) rs551045474
NM_000833.5(GRIN2A):c.*1058T>A rs886052546
NM_000833.5(GRIN2A):c.*1432del rs569463295
NM_000833.5(GRIN2A):c.*1535C>T rs886052545
NM_000833.5(GRIN2A):c.*1539T>G rs886052544
NM_000833.5(GRIN2A):c.*1806G>A rs886052543
NM_000833.5(GRIN2A):c.*1998A>T rs886052542
NM_000833.5(GRIN2A):c.*2053C>T rs775312419
NM_000833.5(GRIN2A):c.*2556C>T rs886052541
NM_000833.5(GRIN2A):c.*2622A>T rs886052540
NM_000833.5(GRIN2A):c.*268G>A rs886052553
NM_000833.5(GRIN2A):c.*2771_*2774dup rs35189803
NM_000833.5(GRIN2A):c.*2773_*2774dup rs35189803
NM_000833.5(GRIN2A):c.*2775_*2776insA rs886052539
NM_000833.5(GRIN2A):c.*2835C>T rs886052538
NM_000833.5(GRIN2A):c.*286A>G rs886052552
NM_000833.5(GRIN2A):c.*3166C>T rs886052537
NM_000833.5(GRIN2A):c.*3396T>G rs886052536
NM_000833.5(GRIN2A):c.*3543G>C rs886052535
NM_000833.5(GRIN2A):c.*3589G>A rs763658518
NM_000833.5(GRIN2A):c.*4207G>A rs747470370
NM_000833.5(GRIN2A):c.*5006G>A rs773012536
NM_000833.5(GRIN2A):c.*5109G>C rs886052534
NM_000833.5(GRIN2A):c.*5161C>T rs369083217
NM_000833.5(GRIN2A):c.*542_*544del rs760275969
NM_000833.5(GRIN2A):c.*545G>C rs886052551
NM_000833.5(GRIN2A):c.*5471T>C rs886052533
NM_000833.5(GRIN2A):c.*5473G>A rs886052532
NM_000833.5(GRIN2A):c.*574C>A rs886052550
NM_000833.5(GRIN2A):c.*5775dup rs202247656
NM_000833.5(GRIN2A):c.*5790del rs74985384
NM_000833.5(GRIN2A):c.*6042A>C rs780823999
NM_000833.5(GRIN2A):c.*6178T>C rs886052531
NM_000833.5(GRIN2A):c.*650C>G rs886052549
NM_000833.5(GRIN2A):c.*6599T>C rs886052530
NM_000833.5(GRIN2A):c.*6659G>A rs886052529
NM_000833.5(GRIN2A):c.*6760G>A rs886052528
NM_000833.5(GRIN2A):c.*678G>A rs886052548
NM_000833.5(GRIN2A):c.*6897del rs886052527
NM_000833.5(GRIN2A):c.*7009_*7010CA[9] rs113553391
NM_000833.5(GRIN2A):c.*7112A>C rs143274147
NM_000833.5(GRIN2A):c.*7207G>A rs886052525
NM_000833.5(GRIN2A):c.*7278G>T rs886052524
NM_000833.5(GRIN2A):c.*7293del rs58903398
NM_000833.5(GRIN2A):c.*7379A>G rs886052522
NM_000833.5(GRIN2A):c.*7483C>T rs551009533
NM_000833.5(GRIN2A):c.*7775C>T rs886052521
NM_000833.5(GRIN2A):c.*7897C>T rs886052520
NM_000833.5(GRIN2A):c.*8156A>G rs886052519
NM_000833.5(GRIN2A):c.*8359T>C rs886052518
NM_000833.5(GRIN2A):c.*8398G>A rs886052517
NM_000833.5(GRIN2A):c.*8542T>C rs886052516
NM_000833.5(GRIN2A):c.*8609C>T rs760313721
NM_000833.5(GRIN2A):c.*8626G>C rs886052515
NM_000833.5(GRIN2A):c.*8781G>A rs886052514
NM_000833.5(GRIN2A):c.*9207G>A rs886052513
NM_000833.5(GRIN2A):c.*971C>A rs886052547
NM_000833.5(GRIN2A):c.-34C>G rs564039694
NM_000833.5(GRIN2A):c.1141C>T (p.His381Tyr) rs757464009
NM_000833.5(GRIN2A):c.1263C>T (p.Asp421=) rs781215527
NM_000833.5(GRIN2A):c.1317C>G (p.Phe439Leu) rs752012396
NM_000833.5(GRIN2A):c.1328+5G>A
NM_000833.5(GRIN2A):c.1498-14_1498-13del rs1491547779
NM_000833.5(GRIN2A):c.1592C>T (p.Thr531Met) rs397518468
NM_000833.5(GRIN2A):c.2497A>G (p.Ile833Val) rs774656858
NM_000833.5(GRIN2A):c.2554G>T (p.Val852Leu) rs150316865
NM_000833.5(GRIN2A):c.2776del (p.Gln926fs)
NM_000833.5(GRIN2A):c.2793del (p.Met932fs)
NM_000833.5(GRIN2A):c.3138A>G (p.Leu1046=) rs773244936
NM_000833.5(GRIN2A):c.3178G>A (p.Asp1060Asn) rs879255358
NM_000833.5(GRIN2A):c.3544G>T (p.Asp1182Tyr) rs375160358
NM_000833.5(GRIN2A):c.3561C>T (p.Tyr1187=) rs750802726
NM_000833.5(GRIN2A):c.3668C>G (p.Thr1223Ser) rs770966136
NM_000833.5(GRIN2A):c.3678C>T (p.Gly1226=) rs749144109
NM_000833.5(GRIN2A):c.3809A>T (p.Asp1270Val) rs750649530
NM_000833.5(GRIN2A):c.3993C>A (p.Val1331=) rs886052554
NM_000833.5(GRIN2A):c.568A>G (p.Thr190Ala) rs886051634
NM_000833.5(GRIN2A):c.747C>T (p.Thr249=) rs774169125
NM_000834.4(GRIN2B):c.4315C>G (p.Pro1439Ala) rs758042475
NM_001014797.3(KCNMA1):c.460G>T (p.Ala154Ser) rs142858967
NM_001039523.3(CHRNA1):c.394C>T (p.Arg132Cys) rs140268343
NM_001077350.3(NPRL3):c.1024G>A (p.Val342Ile)
NM_001077350.3(NPRL3):c.1073C>T (p.Ser358Phe) rs1039004556
NM_001077350.3(NPRL3):c.1113G>A (p.Pro371=)
NM_001077350.3(NPRL3):c.1162-1G>C rs751418986
NM_001077350.3(NPRL3):c.1165C>A (p.Gln389Lys) rs1331117963
NM_001077350.3(NPRL3):c.117A>G (p.Thr39=) rs764156867
NM_001077350.3(NPRL3):c.118+3_118+6del
NM_001077350.3(NPRL3):c.119G>C (p.Ser40Thr)
NM_001077350.3(NPRL3):c.1201C>T (p.Arg401Trp)
NM_001077350.3(NPRL3):c.1202G>A (p.Arg401Gln)
NM_001077350.3(NPRL3):c.1215G>C (p.Gln405His) rs1426917813
NM_001077350.3(NPRL3):c.1243T>C (p.Ser415Pro) rs546525405
NM_001077350.3(NPRL3):c.1252G>A (p.Glu418Lys) rs547498080
NM_001077350.3(NPRL3):c.125C>T (p.Pro42Leu)
NM_001077350.3(NPRL3):c.1268C>T (p.Pro423Leu) rs200792895
NM_001077350.3(NPRL3):c.1280_1283delinsTCCC (p.Asp427_Val428delinsValPro)
NM_001077350.3(NPRL3):c.128G>C (p.Arg43Pro)
NM_001077350.3(NPRL3):c.1313G>A (p.Ser438Asn)
NM_001077350.3(NPRL3):c.1324C>T (p.Pro442Ser)
NM_001077350.3(NPRL3):c.1402G>A (p.Ala468Thr)
NM_001077350.3(NPRL3):c.1448C>T (p.Thr483Met)
NM_001077350.3(NPRL3):c.1483C>T (p.Arg495Cys)
NM_001077350.3(NPRL3):c.1484G>A (p.Arg495His)
NM_001077350.3(NPRL3):c.14C>T (p.Thr5Ile)
NM_001077350.3(NPRL3):c.1514_1518delinsTTCTGGGGCT (p.Gln505fs) rs1555439541
NM_001077350.3(NPRL3):c.1561del (p.Arg521fs)
NM_001077350.3(NPRL3):c.1567C>T (p.Arg523Cys)
NM_001077350.3(NPRL3):c.1589T>C (p.Met530Thr) rs1453118437
NM_001077350.3(NPRL3):c.1643G>A (p.Arg548His)
NM_001077350.3(NPRL3):c.1707_1708del (p.Ter570SerextTer?) rs756232589
NM_001077350.3(NPRL3):c.177C>A (p.Asp59Glu)
NM_001077350.3(NPRL3):c.251T>G (p.Phe84Cys)
NM_001077350.3(NPRL3):c.25A>G (p.Ser9Gly)
NM_001077350.3(NPRL3):c.275G>A (p.Arg92Gln)
NM_001077350.3(NPRL3):c.293C>T (p.Thr98Ile)
NM_001077350.3(NPRL3):c.318+3A>T
NM_001077350.3(NPRL3):c.393+3G>C rs1567141885
NM_001077350.3(NPRL3):c.439C>T (p.Arg147Cys)
NM_001077350.3(NPRL3):c.476G>A (p.Arg159His)
NM_001077350.3(NPRL3):c.597G>C (p.Lys199Asn)
NM_001077350.3(NPRL3):c.629+4A>G
NM_001077350.3(NPRL3):c.636C>G (p.Cys212Trp)
NM_001077350.3(NPRL3):c.641C>T (p.Ser214Leu) rs556232826
NM_001077350.3(NPRL3):c.748C>T (p.Arg250Trp) rs577935445
NM_001077350.3(NPRL3):c.755T>C (p.Leu252Pro)
NM_001077350.3(NPRL3):c.85C>A (p.Gln29Lys)
NM_001077350.3(NPRL3):c.924G>C (p.Gln308His)
NM_001077350.3(NPRL3):c.951G>A (p.Val317=) rs747655659
NM_001077350.3(NPRL3):c.997G>A (p.Val333Ile) rs367664536
NM_001112741.1(KCNC1):c.1065C>T (p.Gly355=)
NM_001112741.1(KCNC1):c.1154A>C (p.Lys385Thr) rs1554991360
NM_001112741.1(KCNC1):c.121G>A (p.Asp41Asn) rs1192156090
NM_001112741.1(KCNC1):c.1261G>A (p.Ala421Thr) rs1565162836
NM_001112741.1(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001112741.1(KCNC1):c.1269G>A (p.Ala423=)
NM_001112741.1(KCNC1):c.131G>A (p.Ser44Asn)
NM_001112741.1(KCNC1):c.1399G>C (p.Gly467Arg)
NM_001112741.1(KCNC1):c.1421C>A (p.Ser474Tyr) rs1554991422
NM_001112741.1(KCNC1):c.1426G>A (p.Val476Ile) rs146311746
NM_001112741.1(KCNC1):c.1438C>A (p.His480Asn) rs1554991425
NM_001112741.1(KCNC1):c.1450C>G (p.Gln484Glu) rs376505218
NM_001112741.1(KCNC1):c.1505A>G (p.Asp502Gly)
NM_001112741.1(KCNC1):c.1574C>T (p.Ala525Val) rs1169785679
NM_001112741.1(KCNC1):c.1619G>A (p.Arg540His)
NM_001112741.1(KCNC1):c.1625G>A (p.Arg542Lys)
NM_001112741.1(KCNC1):c.1627T>C (p.Tyr543His) rs775725087
NM_001112741.1(KCNC1):c.1630G>A (p.Gly544Arg) rs758088373
NM_001112741.1(KCNC1):c.1654G>A (p.Gly552Arg)
NM_001112741.1(KCNC1):c.1659G>T (p.Glu553Asp) rs372580647
NM_001112741.1(KCNC1):c.1673C>G (p.Pro558Arg)
NM_001112741.1(KCNC1):c.1681G>A (p.Gly561Arg)
NM_001112741.1(KCNC1):c.1739A>G (p.Glu580Gly) rs1284857169
NM_001112741.1(KCNC1):c.223A>G (p.Lys75Glu) rs1565152713
NM_001112741.1(KCNC1):c.394G>A (p.Asp132Asn)
NM_001112741.1(KCNC1):c.421G>T (p.Asp141Tyr)
NM_001112741.1(KCNC1):c.433G>C (p.Gly145Arg) rs759773311
NM_001112741.1(KCNC1):c.435C>T (p.Gly145=)
NM_001112741.1(KCNC1):c.494C>T (p.Pro165Leu) rs749790557
NM_001112741.1(KCNC1):c.499G>T (p.Gly167Cys) rs1274575581
NM_001112741.1(KCNC1):c.523C>T (p.Arg175Cys)
NM_001112741.1(KCNC1):c.554C>T (p.Ser185Leu) rs1565152898
NM_001112741.1(KCNC1):c.611T>C (p.Ile204Thr) rs1554991304
NM_001112741.1(KCNC1):c.654C>A (p.Ile218=) rs747207268
NM_001112741.1(KCNC1):c.677A>T (p.Asn226Ile)
NM_001112741.1(KCNC1):c.692C>T (p.Thr231Met) rs1554991314
NM_001112741.1(KCNC1):c.696A>C (p.Gln232His) rs775885483
NM_001112741.1(KCNC1):c.701G>A (p.Arg234His) rs763794003
NM_001112741.1(KCNC1):c.709C>T (p.Arg237Trp)
NM_001112741.1(KCNC1):c.788G>A (p.Arg263His)
NM_001127644.2(GABRA1):c.*1061T>C rs374002978
NM_001127644.2(GABRA1):c.*1381T>C rs187522588
NM_001127644.2(GABRA1):c.*1752G>T rs41303356
NM_001127644.2(GABRA1):c.*1821T>G rs10059108
NM_001127644.2(GABRA1):c.*2523A>C rs567624810
NM_001127644.2(GABRA1):c.*398A>C rs374845401
NM_001127644.2(GABRA1):c.*401G>A rs541504060
NM_001127644.2(GABRA1):c.-4C>T rs375475234
NM_001127644.2(GABRA1):c.1020A>C (p.Arg340Ser) rs1561587910
NM_001127644.2(GABRA1):c.1108C>A (p.Pro370Thr) rs1424508480
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=) rs142385746
NM_001127644.2(GABRA1):c.255+12C>T rs144727170
NM_001127644.2(GABRA1):c.477-14A>G rs757378039
NM_001127644.2(GABRA1):c.498T>G (p.Cys166Trp) rs1437350481
NM_001127644.2(GABRA1):c.672A>G (p.Thr224=) rs372742479
NM_001127644.2(GABRA1):c.75C>T (p.Ser25=)
NM_001127644.2(GABRA1):c.787A>T (p.Met263Leu) rs1561584736
NM_001127644.2(GABRA1):c.80G>A (p.Gly27Glu) rs866861998
NM_001127644.2(GABRA1):c.857-5T>C rs543710675
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp) rs794727356
NM_001134407.3(GRIN2A):c.*2509G>A rs530124672
NM_001134407.3(GRIN2A):c.*2544C>T rs766920527
NM_001134407.3(GRIN2A):c.*7289T>A rs868376839
NM_001134407.3(GRIN2A):c.*7982A>C rs766455387
NM_001134407.3(GRIN2A):c.1030G>C (p.Asp344His)
NM_001134407.3(GRIN2A):c.1057G>A (p.Glu353Lys)
NM_001134407.3(GRIN2A):c.1074C>G (p.His358Gln)
NM_001134407.3(GRIN2A):c.1119A>G (p.Glu373=) rs368406915
NM_001134407.3(GRIN2A):c.1170G>T (p.Trp390Cys) rs1555496181
NM_001134407.3(GRIN2A):c.11T>C (p.Val4Ala)
NM_001134407.3(GRIN2A):c.1249G>A (p.Val417Ile) rs749504561
NM_001134407.3(GRIN2A):c.1264_1308delinsGTCAAAGTTCCGTGGAAA (p.Ile422_Cys436delinsValLysValProTrpLys)
NM_001134407.3(GRIN2A):c.1271C>A (p.Pro424His)
NM_001134407.3(GRIN2A):c.1323A>C (p.Lys441Asn)
NM_001134407.3(GRIN2A):c.1380C>T (p.Cys460=) rs375291296
NM_001134407.3(GRIN2A):c.1382T>A (p.Ile461Asn) rs1567337914
NM_001134407.3(GRIN2A):c.145C>A (p.Arg49Ser)
NM_001134407.3(GRIN2A):c.1489A>T (p.Ile497Phe)
NM_001134407.3(GRIN2A):c.1500G>A (p.Val500=) rs1441314110
NM_001134407.3(GRIN2A):c.1510C>T (p.Arg504Trp)
NM_001134407.3(GRIN2A):c.1751A>G (p.Tyr584Cys)
NM_001134407.3(GRIN2A):c.1770A>C (p.Lys590Asn)
NM_001134407.3(GRIN2A):c.1777+6G>T rs76549675
NM_001134407.3(GRIN2A):c.1780C>T (p.Pro594Ser) rs367543140
NM_001134407.3(GRIN2A):c.179C>T (p.Ala60Val)
NM_001134407.3(GRIN2A):c.1913C>T (p.Ala638Val) rs1567329011
NM_001134407.3(GRIN2A):c.2007+10C>T rs368110989
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_001134407.3(GRIN2A):c.2147C>A (p.Ala716Asp) rs1057519552
NM_001134407.3(GRIN2A):c.2165C>T (p.Thr722Met) rs376029542
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr) rs796052550
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser) rs1555488119
NM_001134407.3(GRIN2A):c.2441T>C (p.Ile814Thr) rs780654733
NM_001134407.3(GRIN2A):c.2445C>A (p.Asp815Glu)
NM_001134407.3(GRIN2A):c.2452G>A (p.Ala818Thr) rs1555483699
NM_001134407.3(GRIN2A):c.2516A>T (p.His839Leu) rs1567282523
NM_001134407.3(GRIN2A):c.2532G>A (p.Lys844=) rs754414929
NM_001134407.3(GRIN2A):c.2549C>T (p.Thr850Met) rs1060503230
NM_001134407.3(GRIN2A):c.2563G>A (p.Asp855Asn) rs796052564
NM_001134407.3(GRIN2A):c.2635_2637AAG[2] (p.Lys881del)
NM_001134407.3(GRIN2A):c.2664G>A (p.Thr888=) rs113847665
NM_001134407.3(GRIN2A):c.2674A>G (p.Ser892Gly) rs1060503229
NM_001134407.3(GRIN2A):c.2695C>T (p.Arg899Trp) rs796052553
NM_001134407.3(GRIN2A):c.2735C>G (p.Ser912Cys) rs200588845
NM_001134407.3(GRIN2A):c.2744T>C (p.Met915Thr) rs1060503231
NM_001134407.3(GRIN2A):c.2749T>G (p.Ser917Ala) rs1060503232
NM_001134407.3(GRIN2A):c.2765C>T (p.Ala922Val) rs200037904
NM_001134407.3(GRIN2A):c.2779A>G (p.Arg927Gly) rs761044372
NM_001134407.3(GRIN2A):c.2811T>A (p.Asp937Glu) rs570907044
NM_001134407.3(GRIN2A):c.288C>G (p.His96Gln) rs74853460
NM_001134407.3(GRIN2A):c.2907C>G (p.Asn969Lys) rs772589363
NM_001134407.3(GRIN2A):c.2929A>C (p.Asn977His) rs776506065
NM_001134407.3(GRIN2A):c.2966A>G (p.Asn989Ser) rs531782747
NM_001134407.3(GRIN2A):c.2998G>A (p.Val1000Met)
NM_001134407.3(GRIN2A):c.3028C>A (p.Pro1010Thr)
NM_001134407.3(GRIN2A):c.3042G>A (p.Trp1014Ter) rs1306036000
NM_001134407.3(GRIN2A):c.3064C>A (p.Arg1022Ser) rs560057284
NM_001134407.3(GRIN2A):c.3103G>A (p.Asp1035Asn) rs540445580
NM_001134407.3(GRIN2A):c.311C>G (p.Thr104Arg)
NM_001134407.3(GRIN2A):c.3176C>G (p.Ser1059Cys) rs772497745
NM_001134407.3(GRIN2A):c.3206C>T (p.Thr1069Met)
NM_001134407.3(GRIN2A):c.3216G>T (p.Arg1072Ser)
NM_001134407.3(GRIN2A):c.3269T>C (p.Val1090Ala)
NM_001134407.3(GRIN2A):c.3293G>A (p.Cys1098Tyr) rs746257794
NM_001134407.3(GRIN2A):c.3363T>G (p.Asp1121Glu) rs764292783
NM_001134407.3(GRIN2A):c.3391G>T (p.Asp1131Tyr) rs1243412120
NM_001134407.3(GRIN2A):c.3400C>A (p.Gln1134Lys) rs748967552
NM_001134407.3(GRIN2A):c.3476G>A (p.Arg1159His) rs534440095
NM_001134407.3(GRIN2A):c.3476G>C (p.Arg1159Pro)
NM_001134407.3(GRIN2A):c.3476G>T (p.Arg1159Leu)
NM_001134407.3(GRIN2A):c.3505C>T (p.Arg1169Trp)
NM_001134407.3(GRIN2A):c.3535T>G (p.Ser1179Ala) rs142670870
NM_001134407.3(GRIN2A):c.3539A>T (p.Asn1180Ile) rs972229279
NM_001134407.3(GRIN2A):c.3578T>G (p.Leu1193Trp) rs75761674
NM_001134407.3(GRIN2A):c.3659A>C (p.Asn1220Thr) rs1131691913
NM_001134407.3(GRIN2A):c.3737A>G (p.Tyr1246Cys) rs779437393
NM_001134407.3(GRIN2A):c.3817C>A (p.Gln1273Lys)
NM_001134407.3(GRIN2A):c.3820A>G (p.Asn1274Asp) rs1567275934
NM_001134407.3(GRIN2A):c.3854G>A (p.Arg1285Lys) rs367543132
NM_001134407.3(GRIN2A):c.3854G>T (p.Arg1285Met)
NM_001134407.3(GRIN2A):c.38C>T (p.Pro13Leu) rs367543131
NM_001134407.3(GRIN2A):c.3961G>C (p.Glu1321Gln) rs370754278
NM_001134407.3(GRIN2A):c.4084A>G (p.Thr1362Ala) rs77282679
NM_001134407.3(GRIN2A):c.4126C>T (p.Arg1376Cys) rs1426934537
NM_001134407.3(GRIN2A):c.414+7C>T
NM_001134407.3(GRIN2A):c.4185G>A (p.Ala1395=) rs778429009
NM_001134407.3(GRIN2A):c.418C>G (p.Pro140Ala)
NM_001134407.3(GRIN2A):c.419C>T (p.Pro140Leu) rs142566406
NM_001134407.3(GRIN2A):c.4205G>A (p.Arg1402Gln)
NM_001134407.3(GRIN2A):c.4229C>T (p.Ser1410Leu) rs1555481986
NM_001134407.3(GRIN2A):c.422C>A (p.Thr141Lys)
NM_001134407.3(GRIN2A):c.4245C>A (p.Asp1415Glu) rs777328885
NM_001134407.3(GRIN2A):c.4247G>C (p.Ser1416Thr) rs377712891
NM_001134407.3(GRIN2A):c.4259A>G (p.Asn1420Ser)
NM_001134407.3(GRIN2A):c.4261G>T (p.Asp1421Tyr) rs1567275051
NM_001134407.3(GRIN2A):c.4310A>G (p.Asn1437Ser)
NM_001134407.3(GRIN2A):c.4330G>A (p.Val1444Ile) rs150574045
NM_001134407.3(GRIN2A):c.4353A>T (p.Arg1451Ser) rs143693526
NM_001134407.3(GRIN2A):c.4355G>A (p.Arg1452His)
NM_001134407.3(GRIN2A):c.4373C>G (p.Pro1458Arg) rs933017490
NM_001134407.3(GRIN2A):c.467C>T (p.Thr156Met)
NM_001134407.3(GRIN2A):c.559G>A (p.Val187Ile) rs751692867
NM_001134407.3(GRIN2A):c.623C>T (p.Thr208Ile) rs367543124
NM_001134407.3(GRIN2A):c.634G>A (p.Asp212Asn) rs1396813794
NM_001134407.3(GRIN2A):c.76G>T (p.Ala26Ser) rs751198815
NM_001134407.3(GRIN2A):c.794C>T (p.Thr265Met)
NM_001134407.3(GRIN2A):c.883G>A (p.Gly295Ser) rs568484876
NM_001134407.3(GRIN2A):c.886A>G (p.Ile296Val) rs953400144
NM_001134407.3(GRIN2A):c.904G>A (p.Ala302Thr)
NM_001134407.3(GRIN2A):c.904G>T (p.Ala302Ser)
NM_001134407.3(GRIN2A):c.914C>G (p.Ser305Cys)
NM_001134407.3(GRIN2A):c.916A>T (p.Met306Leu)
NM_001134407.3(GRIN2A):c.952G>A (p.Ala318Thr) rs1567186996
NM_001134407.3(GRIN2A):c.970A>G (p.Met324Val)
NM_001134407.3(GRIN2A):c.979C>G (p.Pro327Ala) rs771168389
NM_001142604.2(PPT1):c.*521_*532dup rs1553166026
NM_001161352.2(KCNMA1):c.*1006G>A rs200955430
NM_001161352.2(KCNMA1):c.*1022_*1025TTTG[1] rs755720081
NM_001161352.2(KCNMA1):c.*1025G>C rs886047263
NM_001161352.2(KCNMA1):c.*1100C>T rs199706896
NM_001161352.2(KCNMA1):c.*1165C>T rs886047262
NM_001161352.2(KCNMA1):c.*1202C>A rs200435801
NM_001161352.2(KCNMA1):c.*1243T>C rs141466507
NM_001161352.2(KCNMA1):c.*1284T>C rs200045921
NM_001161352.2(KCNMA1):c.*15G>A rs200873312
NM_001161352.2(KCNMA1):c.*1739G>T rs184468198
NM_001161352.2(KCNMA1):c.*1887G>A rs886047261
NM_001161352.2(KCNMA1):c.*1935A>G rs886047260
NM_001161352.2(KCNMA1):c.*1937T>G rs886047259
NM_001161352.2(KCNMA1):c.*2015_*2016TA[7] rs562756117
NM_001161352.2(KCNMA1):c.*2117G>T rs886047258
NM_001161352.2(KCNMA1):c.*2183C>T rs201067003
NM_001161352.2(KCNMA1):c.*2226A>G rs560236547
NM_001161352.2(KCNMA1):c.*223A>G rs886047267
NM_001161352.2(KCNMA1):c.*2278G>A rs886047257
NM_001161352.2(KCNMA1):c.*2325T>A rs41281548
NM_001161352.2(KCNMA1):c.*2373dup rs552322812
NM_001161352.2(KCNMA1):c.*394C>A rs41281550
NM_001161352.2(KCNMA1):c.*411_*413GTT[4] rs879619415
NM_001161352.2(KCNMA1):c.*429_*432CTTT[2] rs886047266
NM_001161352.2(KCNMA1):c.*497A>G rs200933957
NM_001161352.2(KCNMA1):c.*531C>T rs748726029
NM_001161352.2(KCNMA1):c.*539T>C rs886047265
NM_001161352.2(KCNMA1):c.*570T>C rs886047264
NM_001161352.2(KCNMA1):c.*690C>A rs145289064
NM_001161352.2(KCNMA1):c.*834T>C rs543740279
NM_001161352.2(KCNMA1):c.-104_-96dup rs1555529241
NM_001161352.2(KCNMA1):c.-116_-114GGC[7] rs781056387
NM_001161352.2(KCNMA1):c.-25C>T rs373677230
NM_001161352.2(KCNMA1):c.-57G>T rs886047271
NM_001161352.2(KCNMA1):c.1060G>A (p.Gly354Ser) rs1564596167
NM_001161352.2(KCNMA1):c.1131+13C>A rs886047268
NM_001161352.2(KCNMA1):c.1181G>A (p.Arg394His) rs1397483743
NM_001161352.2(KCNMA1):c.1209G>A (p.Ala403=) rs199572145
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636
NM_001161352.2(KCNMA1):c.13_15GGC[5] (p.Gly10del)
NM_001161352.2(KCNMA1):c.13_15GGC[7] (p.Gly10dup) rs750804948
NM_001161352.2(KCNMA1):c.1407C>T (p.Ser469=) rs370862113
NM_001161352.2(KCNMA1):c.144_146TTC[3] (p.Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.1486G>A (p.Ala496Thr) rs202213336
NM_001161352.2(KCNMA1):c.1494G>A (p.Pro498=)
NM_001161352.2(KCNMA1):c.1500G>A (p.Ala500=) rs201400928
NM_001161352.2(KCNMA1):c.1563C>A (p.Ile521=) rs78544619
NM_001161352.2(KCNMA1):c.1593+10C>T
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly6_Gly7insSer) rs780558929
NM_001161352.2(KCNMA1):c.1622A>G (p.Asn541Ser)
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del) rs754606765
NM_001161352.2(KCNMA1):c.1632A>C (p.Glu544Asp)
NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser) rs914048941
NM_001161352.2(KCNMA1):c.1701C>T (p.Gly567=)
NM_001161352.2(KCNMA1):c.1749+6G>A
NM_001161352.2(KCNMA1):c.179C>G (p.Ser60Trp)
NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala) rs200420124
NM_001161352.2(KCNMA1):c.1831G>A (p.Val611Met)
NM_001161352.2(KCNMA1):c.187G>C (p.Glu63Gln)
NM_001161352.2(KCNMA1):c.1952A>C (p.His651Pro)
NM_001161352.2(KCNMA1):c.2015+5G>C rs746586408
NM_001161352.2(KCNMA1):c.2283G>A (p.Pro761=) rs377596790
NM_001161352.2(KCNMA1):c.2291T>C (p.Leu764Pro)
NM_001161352.2(KCNMA1):c.2350A>G (p.Lys784Glu) rs751919609
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=) rs147369374
NM_001161352.2(KCNMA1):c.2660A>G (p.Lys887Arg) rs753684298
NM_001161352.2(KCNMA1):c.2675C>T (p.Thr892Met) rs200440843
NM_001161352.2(KCNMA1):c.2965C>T (p.Arg989Cys) rs143599540
NM_001161352.2(KCNMA1):c.30_56del (p.Ser11_Gly19del)
NM_001161352.2(KCNMA1):c.3147G>A (p.Ala1049=) rs201397661
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001161352.2(KCNMA1):c.3182G>A (p.Arg1061Gln)
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834
NM_001161352.2(KCNMA1):c.31A>G (p.Ser11Gly) rs886047270
NM_001161352.2(KCNMA1):c.31_33AGC[1] (p.Ser12del) rs757636988
NM_001161352.2(KCNMA1):c.31_33AGC[3] (p.Ser12dup) rs757636988
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly) rs1555528807
NM_001161352.2(KCNMA1):c.31_48del (p.Ser11_Gly16del) rs759136661
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) rs1484259264
NM_001161352.2(KCNMA1):c.31_54del (p.Ser11_Gly18del) rs587780364
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=) rs45586138
NM_001161352.2(KCNMA1):c.3333G>A (p.Ala1111=) rs200045097
NM_001161352.2(KCNMA1):c.340C>A (p.Leu114Met)
NM_001161352.2(KCNMA1):c.3416G>A (p.Arg1139Gln) rs1397556923
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559
NM_001161352.2(KCNMA1):c.3507G>A (p.Thr1169=) rs201721843
NM_001161352.2(KCNMA1):c.3556C>T (p.Arg1186Trp)
NM_001161352.2(KCNMA1):c.3557G>A (p.Arg1186Gln)
NM_001161352.2(KCNMA1):c.3581A>G (p.His1194Arg)
NM_001161352.2(KCNMA1):c.3653G>A (p.Arg1218Gln) rs200723995
NM_001161352.2(KCNMA1):c.36_38CGG[4] (p.Gly18_Gly20del)
NM_001161352.2(KCNMA1):c.36_38CGG[8] (p.Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36_38CGG[9] (p.Gly19_Gly20dup)
NM_001161352.2(KCNMA1):c.460G>A (p.Ala154Thr)
NM_001161352.2(KCNMA1):c.469G>C (p.Gly157Arg) rs767576877
NM_001161352.2(KCNMA1):c.49G>C (p.Gly17Arg) rs886047269
NM_001161352.2(KCNMA1):c.626T>C (p.Phe209Ser)
NM_001161352.2(KCNMA1):c.62G>A (p.Ser21Asn) rs794726902
NM_001161352.2(KCNMA1):c.667G>A (p.Val223Met) rs779829350
NM_001161352.2(KCNMA1):c.85A>G (p.Ile29Val)
NM_001161352.2(KCNMA1):c.884+15G>A rs200196183
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg) rs200474297
NM_001161352.2(KCNMA1):c.92C>G (p.Ala31Gly)
NM_001242896.1(DEPDC5):c.1218-18_1218-15delTGTT rs150103661
NM_001242897.2(DEPDC5):c.1010C>G (p.Thr337Arg)
NM_001242897.2(DEPDC5):c.1153C>T (p.Arg385Trp) rs200020310
NM_001242897.2(DEPDC5):c.1154G>A (p.Arg385Gln)
NM_001242897.2(DEPDC5):c.1166G>A (p.Arg389His)
NM_001242897.2(DEPDC5):c.1174C>T (p.Arg392Cys)
NM_001242897.2(DEPDC5):c.1182C>T (p.Gly394=) rs1289456216
NM_001242897.2(DEPDC5):c.1223A>G (p.Tyr408Cys)
NM_001242897.2(DEPDC5):c.1234_1235delinsTA (p.Ser412Tyr)
NM_001242897.2(DEPDC5):c.1249A>T (p.Asn417Tyr) rs763518514
NM_001242897.2(DEPDC5):c.1261C>G (p.Pro421Ala)
NM_001242897.2(DEPDC5):c.1265G>A (p.Arg422Gln) rs886039277
NM_001242897.2(DEPDC5):c.1269A>G (p.Ile423Met)
NM_001242897.2(DEPDC5):c.1291G>A (p.Ala431Thr) rs777844378
NM_001242897.2(DEPDC5):c.130C>G (p.Pro44Ala) rs756878843
NM_001242897.2(DEPDC5):c.1334G>A (p.Ser445Asn)
NM_001242897.2(DEPDC5):c.1354G>A (p.Ala452Thr)
NM_001242897.2(DEPDC5):c.1355C>T (p.Ala452Val) rs202226316
NM_001242897.2(DEPDC5):c.1381G>A (p.Ala461Thr) rs771161131
NM_001242897.2(DEPDC5):c.1385A>G (p.Tyr462Cys) rs747546981
NM_001242897.2(DEPDC5):c.1408C>T (p.Pro470Ser)
NM_001242897.2(DEPDC5):c.1411G>A (p.Gly471Ser) rs756780050
NM_001242897.2(DEPDC5):c.1412G>A (p.Gly471Asp) rs1351408059
NM_001242897.2(DEPDC5):c.1436C>T (p.Thr479Ile)
NM_001242897.2(DEPDC5):c.1446-8C>A rs188460159
NM_001242897.2(DEPDC5):c.1454G>A (p.Arg485Gln) rs886039278
NM_001242897.2(DEPDC5):c.1466G>A (p.Ser489Asn) rs200209747
NM_001242897.2(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639
NM_001242897.2(DEPDC5):c.1526G>A (p.Arg509His)
NM_001242897.2(DEPDC5):c.1594A>G (p.Ile532Val) rs764496748
NM_001242897.2(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113
NM_001242897.2(DEPDC5):c.1625A>C (p.Gln542Pro) rs886039279
NM_001242897.2(DEPDC5):c.1640G>A (p.Ser547Asn)
NM_001242897.2(DEPDC5):c.1657A>G (p.Ser553Gly) rs1555885142
NM_001242897.2(DEPDC5):c.167A>G (p.Lys56Arg)
NM_001242897.2(DEPDC5):c.1720A>G (p.Arg574Gly)
NM_001242897.2(DEPDC5):c.1729G>A (p.Val577Ile)
NM_001242897.2(DEPDC5):c.1794T>G (p.Ile598Met)
NM_001242897.2(DEPDC5):c.1813C>T (p.Arg605Trp) rs1335111412
NM_001242897.2(DEPDC5):c.1814G>A (p.Arg605Gln) rs760696765
NM_001242897.2(DEPDC5):c.1870+2316G>A
NM_001242897.2(DEPDC5):c.1870+2351A>G
NM_001242897.2(DEPDC5):c.1870+2415G>A rs752184633
NM_001242897.2(DEPDC5):c.1870+3471C>A
NM_001242897.2(DEPDC5):c.1870+3506T>A
NM_001242897.2(DEPDC5):c.1870+3527A>C rs370940232
NM_001242897.2(DEPDC5):c.194-5T>C rs752848631
NM_001242897.2(DEPDC5):c.1943C>T (p.Thr648Ile) rs1569059850
NM_001242897.2(DEPDC5):c.2016G>A (p.Pro672=) rs758163770
NM_001242897.2(DEPDC5):c.2053C>T (p.Arg685Cys)
NM_001242897.2(DEPDC5):c.2054G>A (p.Arg685His) rs542384516
NM_001242897.2(DEPDC5):c.20A>G (p.Tyr7Cys) rs748813142
NM_001242897.2(DEPDC5):c.2107G>C (p.Ala703Pro) rs761280493
NM_001242897.2(DEPDC5):c.2116G>A (p.Asp706Asn) rs776885208
NM_001242897.2(DEPDC5):c.2143A>G (p.Met715Val)
NM_001242897.2(DEPDC5):c.2182C>T (p.Arg728Cys) rs953743301
NM_001242897.2(DEPDC5):c.2188A>G (p.Met730Val) rs1555897260
NM_001242897.2(DEPDC5):c.2231C>G (p.Pro744Arg) rs746372266
NM_001242897.2(DEPDC5):c.2252C>T (p.Pro751Leu) rs370487077
NM_001242897.2(DEPDC5):c.2273A>G (p.Tyr758Cys) rs773004067
NM_001242897.2(DEPDC5):c.2319G>C (p.Gln773His)
NM_001242897.2(DEPDC5):c.2326C>G (p.Leu776Val)
NM_001242897.2(DEPDC5):c.233G>A (p.Arg78Gln) rs373578854
NM_001242897.2(DEPDC5):c.233G>C (p.Arg78Pro) rs373578854
NM_001242897.2(DEPDC5):c.2342C>T (p.Thr781Met) rs200744555
NM_001242897.2(DEPDC5):c.2357C>T (p.Thr786Met) rs564667614
NM_001242897.2(DEPDC5):c.2387G>A (p.Arg796Gln)
NM_001242897.2(DEPDC5):c.2427C>A (p.His809Gln) rs1555899801
NM_001242897.2(DEPDC5):c.2438G>C (p.Ser813Thr) rs185576553
NM_001242897.2(DEPDC5):c.2456C>T (p.Ser819Leu)
NM_001242897.2(DEPDC5):c.2470G>A (p.Val824Ile) rs374944205
NM_001242897.2(DEPDC5):c.2497G>A (p.Glu833Lys)
NM_001242897.2(DEPDC5):c.2501G>A (p.Arg834Gln) rs781159677
NM_001242897.2(DEPDC5):c.2589C>G (p.Phe863Leu) rs1555900811
NM_001242897.2(DEPDC5):c.2629G>A (p.Ala877Thr)
NM_001242897.2(DEPDC5):c.2650G>T (p.Gly884Trp)
NM_001242897.2(DEPDC5):c.2656G>A (p.Ala886Thr) rs780008727
NM_001242897.2(DEPDC5):c.268G>A (p.Val90Ile) rs768456731
NM_001242897.2(DEPDC5):c.2703G>C (p.Glu901Asp)
NM_001242897.2(DEPDC5):c.2755C>T (p.Arg919Cys) rs1555900981
NM_001242897.2(DEPDC5):c.2761C>T (p.Arg921Trp) rs375050296
NM_001242897.2(DEPDC5):c.2762G>A (p.Arg921Gln) rs201245740
NM_001242897.2(DEPDC5):c.2777G>A (p.Arg926His)
NM_001242897.2(DEPDC5):c.2779A>G (p.Met927Val)
NM_001242897.2(DEPDC5):c.2780T>A (p.Met927Lys)
NM_001242897.2(DEPDC5):c.2787G>T (p.Arg929=)
NM_001242897.2(DEPDC5):c.279+3A>G rs1211730596
NM_001242897.2(DEPDC5):c.2858C>A (p.Pro953His) rs376744360
NM_001242897.2(DEPDC5):c.28G>A (p.Val10Ile) rs375027042
NM_001242897.2(DEPDC5):c.2935C>G (p.Gln979Glu)
NM_001242897.2(DEPDC5):c.2960A>G (p.Lys987Arg)
NM_001242897.2(DEPDC5):c.2972A>C (p.Gln991Pro)
NM_001242897.2(DEPDC5):c.2978C>T (p.Ala993Val)
NM_001242897.2(DEPDC5):c.2982G>C (p.Glu994Asp) rs753608617
NM_001242897.2(DEPDC5):c.2983A>C (p.Ser995Arg) rs754608531
NM_001242897.2(DEPDC5):c.2984G>A (p.Ser995Asn)
NM_001242897.2(DEPDC5):c.3001A>G (p.Thr1001Ala) rs878854278
NM_001242897.2(DEPDC5):c.3007A>C (p.Thr1003Pro) rs142540948
NM_001242897.2(DEPDC5):c.3013A>C (p.Met1005Leu)
NM_001242897.2(DEPDC5):c.3022C>T (p.Pro1008Ser)
NM_001242897.2(DEPDC5):c.3030+3822C>T rs772812141
NM_001242897.2(DEPDC5):c.3030+3843G>A
NM_001242897.2(DEPDC5):c.3030+3855C>T rs528786894
NM_001242897.2(DEPDC5):c.3030+3861C>T rs79027628
NM_001242897.2(DEPDC5):c.3137A>G (p.Gln1046Arg) rs1555913525
NM_001242897.2(DEPDC5):c.3161C>T (p.Ser1054Phe) rs578244490
NM_001242897.2(DEPDC5):c.3184A>G (p.Ser1062Gly) rs886039280
NM_001242897.2(DEPDC5):c.3215C>A (p.Thr1072Asn) rs865860087
NM_001242897.2(DEPDC5):c.3263C>T (p.Ser1088Leu)
NM_001242897.2(DEPDC5):c.332G>A (p.Arg111His) rs878854279
NM_001242897.2(DEPDC5):c.3359G>A (p.Gly1120Glu)
NM_001242897.2(DEPDC5):c.3503G>A (p.Arg1168Gln) rs886039281
NM_001242897.2(DEPDC5):c.3533G>T (p.Trp1178Leu) rs1569185783
NM_001242897.2(DEPDC5):c.3536A>G (p.His1179Arg)
NM_001242897.2(DEPDC5):c.3552C>A (p.Asp1184Glu)
NM_001242897.2(DEPDC5):c.3559G>T (p.Ala1187Ser)
NM_001242897.2(DEPDC5):c.3575A>C (p.Lys1192Thr)
NM_001242897.2(DEPDC5):c.3576G>C (p.Lys1192Asn)
NM_001242897.2(DEPDC5):c.3586G>T (p.Val1196Leu) rs1569186162
NM_001242897.2(DEPDC5):c.363+6A>G
NM_001242897.2(DEPDC5):c.363+6_363+7del rs748242785
NM_001242897.2(DEPDC5):c.3652A>C (p.Ser1218Arg)
NM_001242897.2(DEPDC5):c.376G>A (p.Ala126Thr) rs1008310202
NM_001242897.2(DEPDC5):c.3808T>A (p.Cys1270Ser)
NM_001242897.2(DEPDC5):c.380A>G (p.Tyr127Cys) rs370881336
NM_001242897.2(DEPDC5):c.3824A>G (p.His1275Arg) rs1260083367
NM_001242897.2(DEPDC5):c.3826G>A (p.Gly1276Ser) rs1555929990
NM_001242897.2(DEPDC5):c.3836C>A (p.Ser1279Tyr) rs765244692
NM_001242897.2(DEPDC5):c.3856A>C (p.Ile1286Leu) rs1555930038
NM_001242897.2(DEPDC5):c.3875C>T (p.Ala1292Val) rs1420107846
NM_001242897.2(DEPDC5):c.3883G>A (p.Ala1295Thr)
NM_001242897.2(DEPDC5):c.4006C>T (p.Arg1336Cys)
NM_001242897.2(DEPDC5):c.4007G>A (p.Arg1336His)
NM_001242897.2(DEPDC5):c.4009G>T (p.Ala1337Ser) rs1555933951
NM_001242897.2(DEPDC5):c.4054G>A (p.Gly1352Ser) rs1452980660
NM_001242897.2(DEPDC5):c.4091C>T (p.Thr1364Met)
NM_001242897.2(DEPDC5):c.4220-2A>G rs1555942859
NM_001242897.2(DEPDC5):c.4271A>G (p.Gln1424Arg) rs377585542
NM_001242897.2(DEPDC5):c.4280G>A (p.Arg1427Gln)
NM_001242897.2(DEPDC5):c.4320C>T (p.Cys1440=)
NM_001242897.2(DEPDC5):c.4330del (p.Val1444fs) rs1569255443
NM_001242897.2(DEPDC5):c.4392_4393delinsTTT (p.Asp1465fs) rs1569255986
NM_001242897.2(DEPDC5):c.4427T>G (p.Phe1476Cys)
NM_001242897.2(DEPDC5):c.4433A>G (p.Asp1478Gly) rs201347461
NM_001242897.2(DEPDC5):c.4447C>T (p.Arg1483Cys)
NM_001242897.2(DEPDC5):c.4456C>T (p.Arg1486Trp)
NM_001242897.2(DEPDC5):c.4459C>T (p.Leu1487=) rs1569256444
NM_001242897.2(DEPDC5):c.4478G>T (p.Ser1493Ile)
NM_001242897.2(DEPDC5):c.4479T>A (p.Ser1493Arg) rs750919199
NM_001242897.2(DEPDC5):c.499A>G (p.Thr167Ala) rs374309503
NM_001242897.2(DEPDC5):c.542T>A (p.Met181Lys) rs1060501486
NM_001242897.2(DEPDC5):c.56G>C (p.Ser19Thr) rs886039275
NM_001242897.2(DEPDC5):c.5G>A (p.Arg2Lys) rs756142773
NM_001242897.2(DEPDC5):c.602C>A (p.Ala201Asp) rs1569519698
NM_001242897.2(DEPDC5):c.640C>G (p.His214Asp) rs886039276
NM_001242897.2(DEPDC5):c.694+3_694+6del rs1351154360
NM_001242897.2(DEPDC5):c.694+5G>A rs1060501485
NM_001242897.2(DEPDC5):c.752A>G (p.Tyr251Cys) rs1064796158
NM_001242897.2(DEPDC5):c.763T>C (p.Tyr255His)
NM_001242897.2(DEPDC5):c.791G>A (p.Arg264Lys)
NM_001242897.2(DEPDC5):c.814G>T (p.Val272Leu) rs187334123
NM_001242897.2(DEPDC5):c.842A>T (p.Tyr281Phe) rs200797928
NM_001242897.2(DEPDC5):c.90C>G (p.Phe30Leu)
NM_001242897.2(DEPDC5):c.944A>G (p.Asn315Ser)
NM_001242897.2(DEPDC5):c.968A>G (p.Asn323Ser) rs201776005
NM_001492.6(GDF1):c.-1066C>T rs374895377
NM_001492.6(GDF1):c.-1073C>A
NM_001492.6(GDF1):c.-1079T>C
NM_001492.6(GDF1):c.-1101C>G
NM_001492.6(GDF1):c.-1142C>A rs1330389032
NM_001492.6(GDF1):c.-1159T>A rs918114133
NM_001492.6(GDF1):c.-1286C>T rs868136098
NM_001492.6(GDF1):c.-1300C>G rs1568309719
NM_001492.6(GDF1):c.-1307C>A rs1041161328
NM_001492.6(GDF1):c.-1318_-1316CGG[4]
NM_001492.6(GDF1):c.-305C>G rs774114834
NM_001492.6(GDF1):c.-312-2A>G rs771873576
NM_001492.6(GDF1):c.-334G>T
NM_001492.6(GDF1):c.-422-3C>A rs1464119106
NM_001492.6(GDF1):c.-466C>T rs559340743
NM_001492.6(GDF1):c.-472T>C rs1568297877
NM_001492.6(GDF1):c.-487C>G
NM_001492.6(GDF1):c.-536G>A rs200539084
NM_001492.6(GDF1):c.-581G>A
NM_001492.6(GDF1):c.-615T>A rs902153714
NM_001492.6(GDF1):c.-638G>A
NM_001492.6(GDF1):c.-748C>T
NM_001492.6(GDF1):c.-764C>G rs772627907
NM_001492.6(GDF1):c.-766C>T
NM_001492.6(GDF1):c.-773G>T rs374308521
NM_001492.6(GDF1):c.-830G>A
NM_001492.6(GDF1):c.-886G>A rs201005099
NM_001492.6(GDF1):c.-904C>T
NM_001492.6(GDF1):c.-925C>T rs1555707050
NM_001909.5(CTSD):c.101G>A (p.Arg34Gln) rs1240316419
NM_001909.5(CTSD):c.1069A>G (p.Lys357Glu)
NM_001909.5(CTSD):c.1071+6C>T rs759803379
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg) rs746733183
NM_001909.5(CTSD):c.1119G>C (p.Met373Ile)
NM_001909.5(CTSD):c.111G>A (p.Ser37=) rs535140505
NM_001909.5(CTSD):c.1159G>A (p.Asp387Asn) rs764522039
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile) rs202073338
NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala)
NM_001909.5(CTSD):c.1208G>C (p.Arg403Thr) rs779858404
NM_001909.5(CTSD):c.1235T>G (p.Leu412Arg) rs1554962202
NM_001909.5(CTSD):c.141T>G (p.Ile47Met)
NM_001909.5(CTSD):c.142G>A (p.Ala48Thr)
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr) rs764386803
NM_001909.5(CTSD):c.184G>A (p.Val62Met) rs756892066
NM_001909.5(CTSD):c.190G>A (p.Glu64Lys)
NM_001909.5(CTSD):c.199A>C (p.Ile67Leu) rs1335299144
NM_001909.5(CTSD):c.19C>G (p.Leu7Val) rs1470191996
NM_001909.5(CTSD):c.223A>G (p.Met75Val)
NM_001909.5(CTSD):c.253A>G (p.Ile85Val) rs1565022412
NM_001909.5(CTSD):c.271T>C (p.Cys91Arg) rs1042278213
NM_001909.5(CTSD):c.283G>A (p.Val95Ile) rs141482597
NM_001909.5(CTSD):c.294G>A (p.Thr98=) rs369373285
NM_001909.5(CTSD):c.301T>C (p.Ser101Pro)
NM_001909.5(CTSD):c.353-6G>A rs1565022065
NM_001909.5(CTSD):c.370A>G (p.Asn124Asp)
NM_001909.5(CTSD):c.432G>A (p.Ser144=) rs587780916
NM_001909.5(CTSD):c.465_466inv (p.Val156Met)
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409
NM_001909.5(CTSD):c.471G>A (p.Ser157=)
NM_001909.5(CTSD):c.488C>T (p.Ala163Val) rs772976217
NM_001909.5(CTSD):c.511G>A (p.Gly171Ser) rs775460488
NM_001909.5(CTSD):c.52G>A (p.Ala18Thr)
NM_001909.5(CTSD):c.52G>C (p.Ala18Pro) rs796052403
NM_001909.5(CTSD):c.566C>T (p.Thr189Ile) rs1554962634
NM_001909.5(CTSD):c.592A>G (p.Ile198Val) rs556334193
NM_001909.5(CTSD):c.613C>T (p.Arg205Cys) rs769825646
NM_001909.5(CTSD):c.64G>T (p.Val22Phe) rs1060502503
NM_001909.5(CTSD):c.68+6G>A
NM_001909.5(CTSD):c.74C>T (p.Pro25Leu)
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn) rs763407972
NM_001909.5(CTSD):c.769G>A (p.Gly257Ser)
NM_001909.5(CTSD):c.796C>T (p.Arg266Cys) rs373621431
NM_001909.5(CTSD):c.891C>T (p.Gly297=) rs755183661
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu) rs757712173
NM_001909.5(CTSD):c.927C>T (p.Arg309=)
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys) rs373699222
NM_001909.5(CTSD):c.978G>A (p.Met326Ile)
NM_001909.5(CTSD):c.993G>C (p.Lys331Asn) rs1181418072
NM_002087.3(GRN):c.1253G>A (p.Arg418Gln) rs63751100
NM_002087.3(GRN):c.1288C>G (p.Pro430Ala) rs200645022
NM_002087.3(GRN):c.139G>A (p.Asp47Asn) rs1239690384
NM_002087.3(GRN):c.1669C>T (p.His557Tyr)
NM_002087.3(GRN):c.1736G>A (p.Arg579His)
NM_002087.3(GRN):c.229G>A (p.Val77Ile)
NM_002087.3(GRN):c.250T>C (p.Cys84Arg)
NM_002087.3(GRN):c.268G>A (p.Val90Met)
NM_002087.3(GRN):c.442G>A (p.Gly148Arg)
NM_002087.3(GRN):c.53C>T (p.Thr18Met) rs199572314
NM_002087.3(GRN):c.635G>A (p.Arg212Gln) rs63750787
NM_002087.3(GRN):c.708+6_708+9del
NM_002087.3(GRN):c.803C>T (p.Thr268Met)
NM_002087.3(GRN):c.808C>T (p.Leu270Phe) rs1567887059
NM_002087.3(GRN):c.836-3C>T
NM_002087.3(GRN):c.8C>G (p.Thr3Ser)
NM_002087.3(GRN):c.970G>A (p.Ala324Thr) rs63750541
NM_002247.3(KCNMA1):c.1131+11dupA rs545073914
NM_003793.4(CTSF):c.1350del (p.Asn451fs) rs1565311637
NM_003793.4(CTSF):c.614G>A (p.Arg205Gln)
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg) rs148611356
NM_004287.4(GOSR2):c.*1105A>T rs780111337
NM_004287.4(GOSR2):c.*1277C>G rs577505377
NM_004287.4(GOSR2):c.*1377G>A rs180777362
NM_004287.4(GOSR2):c.*1446A>T rs572361575
NM_004287.4(GOSR2):c.*1679A>G rs149765350
NM_004287.4(GOSR2):c.*1703A>G rs144662292
NM_004287.4(GOSR2):c.*18G>T rs778066395
NM_004287.4(GOSR2):c.*2057C>T rs368549324
NM_004287.4(GOSR2):c.*2068C>G rs886053082
NM_004287.4(GOSR2):c.*2190_*2191TC[2] rs553512648
NM_004287.4(GOSR2):c.*2192T>G rs545130658
NM_004287.4(GOSR2):c.*2195C>A rs565638240
NM_004287.4(GOSR2):c.*2213G>T rs886053084
NM_004287.4(GOSR2):c.*2253C>T rs886053085
NM_004287.4(GOSR2):c.*2291C>G rs186093347
NM_004287.4(GOSR2):c.*2336A>T rs569751775
NM_004287.4(GOSR2):c.*2573G>A rs886053086
NM_004287.4(GOSR2):c.*2589T>C rs886053087
NM_004287.4(GOSR2):c.*286G>T rs78693564
NM_004287.4(GOSR2):c.*332A>G rs886053079
NM_004287.4(GOSR2):c.*412C>A rs886053080
NM_004287.4(GOSR2):c.*804A>G rs886053081
NM_004287.4(GOSR2):c.-20T>G rs886053077
NM_004287.4(GOSR2):c.-64G>T rs886053076
NM_004287.4(GOSR2):c.-7C>G rs760018200
NM_004287.4(GOSR2):c.101A>G (p.Glu34Gly)
NM_004287.4(GOSR2):c.128A>G (p.Gln43Arg)
NM_004287.4(GOSR2):c.133T>C (p.Phe45Leu) rs1060500714
NM_004287.4(GOSR2):c.148C>T (p.Arg50Cys) rs143754727
NM_004287.4(GOSR2):c.154G>A (p.Glu52Lys)
NM_004287.4(GOSR2):c.203+3A>G rs201423456
NM_004287.4(GOSR2):c.205C>A (p.Arg69=)
NM_004287.4(GOSR2):c.205C>T (p.Arg69Trp) rs770149230
NM_004287.4(GOSR2):c.22dup (p.Thr8fs) rs746855352
NM_004287.4(GOSR2):c.235C>T (p.His79Tyr) rs1568171907
NM_004287.4(GOSR2):c.246T>C (p.Thr82=) rs141380070
NM_004287.4(GOSR2):c.258C>G (p.Asn86Lys)
NM_004287.4(GOSR2):c.266A>G (p.His89Arg)
NM_004287.4(GOSR2):c.272G>A (p.Arg91His)
NM_004287.4(GOSR2):c.29+13C>T rs747791818
NM_004287.4(GOSR2):c.331A>G (p.Thr111Ala)
NM_004287.4(GOSR2):c.336+9G>A rs200210055
NM_004287.4(GOSR2):c.350C>T (p.Thr117Ile)
NM_004287.4(GOSR2):c.358A>G (p.Met120Val) rs769454681
NM_004287.4(GOSR2):c.363C>T (p.Asp121=) rs886053078
NM_004287.4(GOSR2):c.404A>G (p.Asn135Ser) rs765513191
NM_004287.4(GOSR2):c.40G>A (p.Glu14Lys) rs113817924
NM_004287.4(GOSR2):c.47A>C (p.Gln16Pro)
NM_004287.4(GOSR2):c.509A>G (p.Asn170Ser) rs150907052
NM_004287.4(GOSR2):c.541C>G (p.Leu181Val) rs772342696
NM_004287.4(GOSR2):c.557_584del (p.Ala186fs) rs796052541
NM_004287.4(GOSR2):c.57G>A (p.Met19Ile) rs369247929
NM_004287.4(GOSR2):c.619G>A (p.Val207Met) rs780839289
NM_004287.4(GOSR2):c.636A>G (p.Thr212=) rs990159762
NM_004287.4(GOSR2):c.637T>C (p.Ter213Arg)
NM_004287.4(GOSR2):c.68A>G (p.Glu23Gly) rs200071814
NM_004287.4(GOSR2):c.71C>T (p.Thr24Met)
NM_004287.4(GOSR2):c.77A>G (p.Asp26Gly) rs773543394
NM_004366.6(CLCN2):c.221-14_221-4del rs515726132
NM_004366.6(CLCN2):c.415A>C (p.Thr139Pro)
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) rs71318369
NM_005025.4(SERPINI1):c.*172T>A rs886058170
NM_005025.4(SERPINI1):c.-283C>T rs886058167
NM_005025.4(SERPINI1):c.-335G>A rs886058166
NM_005025.4(SERPINI1):c.-396_-392GGAGC[3] rs886058165
NM_005025.4(SERPINI1):c.1039G>T (p.Glu347Ter) rs1560020073
NM_005025.4(SERPINI1):c.106C>T (p.Arg36Cys) rs61735306
NM_005025.4(SERPINI1):c.1117G>A (p.Asp373Asn)
NM_005025.4(SERPINI1):c.1139T>C (p.Ile380Thr) rs1560020646
NM_005025.4(SERPINI1):c.1173G>A (p.Met391Ile)
NM_005025.4(SERPINI1):c.1186C>T (p.His396Tyr)
NM_005025.4(SERPINI1):c.1221C>A (p.Phe407Leu) rs149238028
NM_005025.4(SERPINI1):c.161C>T (p.Ala54Val) rs769948709
NM_005025.4(SERPINI1):c.166G>T (p.Ala56Ser) rs1050971384
NM_005025.4(SERPINI1):c.200C>A (p.Ser67Tyr)
NM_005025.4(SERPINI1):c.217C>T (p.Arg73Cys) rs369596299
NM_005025.4(SERPINI1):c.221A>G (p.His74Arg)
NM_005025.4(SERPINI1):c.248A>T (p.Asn83Ile) rs150681002
NM_005025.4(SERPINI1):c.281C>T (p.Ser94Leu) rs781486255
NM_005025.4(SERPINI1):c.286A>G (p.Met96Val) rs372528371
NM_005025.4(SERPINI1):c.388A>C (p.Lys130Gln)
NM_005025.4(SERPINI1):c.410A>G (p.Asn137Ser) rs886058168
NM_005025.4(SERPINI1):c.439G>A (p.Val147Met)
NM_005025.4(SERPINI1):c.473A>G (p.Asn158Ser) rs767144751
NM_005025.4(SERPINI1):c.482A>T (p.Asn161Ile) rs1553774731
NM_005025.4(SERPINI1):c.508A>G (p.Arg170Gly)
NM_005025.4(SERPINI1):c.526A>G (p.Thr176Ala)
NM_005025.4(SERPINI1):c.53G>C (p.Gly18Ala)
NM_005025.4(SERPINI1):c.751A>G (p.Ile251Val) rs1553774954
NM_005025.4(SERPINI1):c.760A>C (p.Met254Leu) rs1553774956
NM_005025.4(SERPINI1):c.817G>A (p.Ala273Thr) rs778331359
NM_005025.4(SERPINI1):c.843C>G (p.Asn281Lys) rs1553774967
NM_005025.4(SERPINI1):c.854A>C (p.Lys285Thr)
NM_005025.4(SERPINI1):c.881+4T>G
NM_005025.4(SERPINI1):c.914A>C (p.Asp305Ala) rs756818970
NM_005025.4(SERPINI1):c.959C>G (p.Ala320Gly) rs886058169
NM_005025.4(SERPINI1):c.990G>T (p.Glu330Asp) rs372246975
NM_005045.3(RELN):c.578-3delT rs1047136329
NM_005045.4(RELN):c.10016T>C (p.Met3339Thr) rs150638029
NM_005045.4(RELN):c.1001G>A (p.Arg334His) rs146922726
NM_005045.4(RELN):c.10097A>G (p.Asn3366Ser)
NM_005045.4(RELN):c.10102G>A (p.Gly3368Arg) rs753769576
NM_005045.4(RELN):c.10120A>G (p.Ile3374Val)
NM_005045.4(RELN):c.10135C>T (p.Pro3379Ser)
NM_005045.4(RELN):c.1013T>G (p.Val338Gly) rs200513558
NM_005045.4(RELN):c.10177C>T (p.Pro3393Ser)
NM_005045.4(RELN):c.10181+7G>A rs1554360619
NM_005045.4(RELN):c.10276G>A (p.Val3426Ile) rs188371196
NM_005045.4(RELN):c.10307_10309TGA[1] (p.Met3437del) rs1406481652
NM_005045.4(RELN):c.10310T>C (p.Met3437Thr) rs377638585
NM_005045.4(RELN):c.10322G>A (p.Arg3441Gln) rs116463039
NM_005045.4(RELN):c.10357C>T (p.Arg3453Ter)
NM_005045.4(RELN):c.1055A>G (p.Asn352Ser)
NM_005045.4(RELN):c.105_107CTT[1] (p.Phe38del) rs1563127968
NM_005045.4(RELN):c.1108G>C (p.Gly370Arg) rs143050366
NM_005045.4(RELN):c.1194C>T (p.Gly398=) rs761288381
NM_005045.4(RELN):c.1231C>A (p.Leu411Ile) rs144978163
NM_005045.4(RELN):c.1250A>G (p.Gln417Arg) rs1554402126
NM_005045.4(RELN):c.1252G>A (p.Glu418Lys) rs983845835
NM_005045.4(RELN):c.1277G>A (p.Ser426Asn) rs568950079
NM_005045.4(RELN):c.127C>A (p.His43Asn)
NM_005045.4(RELN):c.1336G>C (p.Glu446Gln) rs56146903
NM_005045.4(RELN):c.1379A>C (p.Lys460Thr) rs779530655
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092
NM_005045.4(RELN):c.1483A>G (p.Ile495Val) rs150850005
NM_005045.4(RELN):c.1621A>G (p.Arg541Gly) rs1562941047
NM_005045.4(RELN):c.1708C>G (p.His570Asp) rs374546580
NM_005045.4(RELN):c.1735G>A (p.Gly579Arg)
NM_005045.4(RELN):c.1796G>A (p.Arg599His)
NM_005045.4(RELN):c.179A>G (p.His60Arg)
NM_005045.4(RELN):c.1817C>T (p.Thr606Ile) rs540111252
NM_005045.4(RELN):c.1820A>G (p.Glu607Gly) rs1554397636
NM_005045.4(RELN):c.1880A>G (p.Glu627Gly)
NM_005045.4(RELN):c.1901G>A (p.Arg634Gln)
NM_005045.4(RELN):c.1906A>G (p.Thr636Ala)
NM_005045.4(RELN):c.1924G>A (p.Ala642Thr) rs201735865
NM_005045.4(RELN):c.1948A>T (p.Ile650Phe) rs371652596
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262
NM_005045.4(RELN):c.2039G>T (p.Gly680Val) rs1562935595
NM_005045.4(RELN):c.2071T>G (p.Cys691Gly) rs1562933794
NM_005045.4(RELN):c.2125A>G (p.Met709Val) rs114577182
NM_005045.4(RELN):c.2158C>G (p.Leu720Val) rs1554395337
NM_005045.4(RELN):c.2176T>A (p.Phe726Ile) rs200007424
NM_005045.4(RELN):c.22C>G (p.Arg8Gly) rs1470522542
NM_005045.4(RELN):c.2313G>T (p.Gln771His) rs777581847
NM_005045.4(RELN):c.2434C>G (p.His812Asp) rs3025968
NM_005045.4(RELN):c.2440T>C (p.Ser814Pro)
NM_005045.4(RELN):c.2446C>T (p.Leu816Phe) rs144653976
NM_005045.4(RELN):c.2453A>G (p.Tyr818Cys) rs771201055
NM_005045.4(RELN):c.2476G>A (p.Val826Ile)
NM_005045.4(RELN):c.2477T>C (p.Val826Ala) rs1554394300
NM_005045.4(RELN):c.2563G>A (p.Ala855Thr)
NM_005045.4(RELN):c.2717C>G (p.Ser906Cys) rs1174257090
NM_005045.4(RELN):c.2725G>A (p.Ala909Thr) rs1167526294
NM_005045.4(RELN):c.2779A>G (p.Met927Val)
NM_005045.4(RELN):c.2938G>C (p.Ala980Pro)
NM_005045.4(RELN):c.2944A>C (p.Ile982Leu) rs143972828
NM_005045.4(RELN):c.2954C>G (p.Ala985Gly) rs138598422
NM_005045.4(RELN):c.2989C>T (p.Leu997Phe) rs362691
NM_005045.4(RELN):c.2992C>G (p.Leu998Val) rs201003473
NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr) rs757915171
NM_005045.4(RELN):c.3133C>T (p.His1045Tyr) rs1554389286
NM_005045.4(RELN):c.3164A>G (p.Gln1055Arg)
NM_005045.4(RELN):c.3197C>T (p.Pro1066Leu) rs116225248
NM_005045.4(RELN):c.3203C>A (p.Thr1068Lys) rs758968274
NM_005045.4(RELN):c.3209T>C (p.Met1070Thr) rs1554389059
NM_005045.4(RELN):c.3210G>A (p.Met1070Ile) rs1298824421
NM_005045.4(RELN):c.3593G>A (p.Arg1198His)
NM_005045.4(RELN):c.3607G>A (p.Val1203Met)
NM_005045.4(RELN):c.3617G>A (p.Gly1206Glu) rs866737719
NM_005045.4(RELN):c.3622G>A (p.Asp1208Asn) rs1230772547
NM_005045.4(RELN):c.3655A>G (p.Ile1219Val) rs1057524179
NM_005045.4(RELN):c.3667A>G (p.Lys1223Glu) rs200269227
NM_005045.4(RELN):c.3680T>C (p.Ile1227Thr)
NM_005045.4(RELN):c.3706C>T (p.Pro1236Ser) rs750302438
NM_005045.4(RELN):c.3849T>G (p.Asp1283Glu)
NM_005045.4(RELN):c.3906G>C (p.Gln1302His) rs1554386837
NM_005045.4(RELN):c.4019C>T (p.Pro1340Leu)
NM_005045.4(RELN):c.4075A>G (p.Met1359Val)
NM_005045.4(RELN):c.4110A>C (p.Arg1370Ser)
NM_005045.4(RELN):c.4133C>G (p.Ser1378Cys)
NM_005045.4(RELN):c.4214G>T (p.Gly1405Val) rs1562900485
NM_005045.4(RELN):c.4263C>A (p.Asp1421Glu)
NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser) rs115577014
NM_005045.4(RELN):c.4354G>A (p.Asp1452Asn) rs114446781
NM_005045.4(RELN):c.4397C>T (p.Thr1466Ile)
NM_005045.4(RELN):c.4434C>G (p.Asn1478Lys) rs375118721
NM_005045.4(RELN):c.4441A>G (p.Lys1481Glu) rs896069835
NM_005045.4(RELN):c.4472G>A (p.Arg1491Lys) rs764417211
NM_005045.4(RELN):c.4480C>T (p.Arg1494Trp) rs140263617
NM_005045.4(RELN):c.4495G>C (p.Asp1499His) rs200428576
NM_005045.4(RELN):c.450G>A (p.Ala150=)
NM_005045.4(RELN):c.4517T>A (p.Val1506Asp) rs1554381609
NM_005045.4(RELN):c.4609A>T (p.Asn1537Tyr) rs753346658
NM_005045.4(RELN):c.4630C>T (p.His1544Tyr)
NM_005045.4(RELN):c.4640G>A (p.Arg1547Gln)
NM_005045.4(RELN):c.4703C>T (p.Ala1568Val)
NM_005045.4(RELN):c.4843G>C (p.Asp1615His)
NM_005045.4(RELN):c.4882G>C (p.Val1628Leu) rs1436133395
NM_005045.4(RELN):c.4893C>G (p.Asp1631Glu) rs201296719
NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly) rs587780439
NM_005045.4(RELN):c.490C>T (p.Arg164Trp) rs776886354
NM_005045.4(RELN):c.4936+5A>G rs1554380236
NM_005045.4(RELN):c.4943C>T (p.Pro1648Leu)
NM_005045.4(RELN):c.4985C>T (p.Thr1662Ile) rs750833122
NM_005045.4(RELN):c.5005A>C (p.Ser1669Arg) rs1481028795
NM_005045.4(RELN):c.5077G>A (p.Asp1693Asn) rs1487716758
NM_005045.4(RELN):c.5095G>A (p.Glu1699Lys) rs147657490
NM_005045.4(RELN):c.5166C>G (p.Phe1722Leu) rs886061856
NM_005045.4(RELN):c.5194C>T (p.Leu1732Phe)
NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln) rs199553777
NM_005045.4(RELN):c.5258G>A (p.Gly1753Glu) rs1554379129
NM_005045.4(RELN):c.5273C>T (p.Ala1758Val)
NM_005045.4(RELN):c.5344C>T (p.Arg1782Cys) rs138576725
NM_005045.4(RELN):c.5359C>T (p.Arg1787Trp)
NM_005045.4(RELN):c.5408T>C (p.Ile1803Thr)
NM_005045.4(RELN):c.5468C>A (p.Ala1823Glu) rs1244373166
NM_005045.4(RELN):c.5489G>A (p.Gly1830Asp) rs1255854701
NM_005045.4(RELN):c.5498T>C (p.Ile1833Thr)
NM_005045.4(RELN):c.5668A>G (p.Ile1890Val) rs147026512
NM_005045.4(RELN):c.5684T>C (p.Met1895Thr)
NM_005045.4(RELN):c.5711C>T (p.Thr1904Met) rs114190729
NM_005045.4(RELN):c.5717T>C (p.Ile1906Thr)
NM_005045.4(RELN):c.576A>G (p.Leu192=) rs142874980
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala) rs149837553
NM_005045.4(RELN):c.5893C>A (p.Pro1965Thr)
NM_005045.4(RELN):c.5903A>T (p.Asp1968Val) rs1284690672
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn) rs143948239
NM_005045.4(RELN):c.59C>T (p.Thr20Met) rs145135688
NM_005045.4(RELN):c.6031C>T (p.Arg2011Cys) rs374628146
NM_005045.4(RELN):c.6032G>A (p.Arg2011His)
NM_005045.4(RELN):c.6157C>T (p.Leu2053Phe)
NM_005045.4(RELN):c.6166C>T (p.Pro2056Ser) rs200409290
NM_005045.4(RELN):c.6170T>G (p.Leu2057Arg)
NM_005045.4(RELN):c.6190C>G (p.His2064Asp)
NM_005045.4(RELN):c.6190C>T (p.His2064Tyr)
NM_005045.4(RELN):c.6193G>A (p.Val2065Ile) rs201627577
NM_005045.4(RELN):c.6241G>A (p.Ala2081Thr)
NM_005045.4(RELN):c.6274G>A (p.Val2092Met)
NM_005045.4(RELN):c.6278A>C (p.His2093Pro) rs149152189
NM_005045.4(RELN):c.6385G>A (p.Gly2129Ser)
NM_005045.4(RELN):c.6401A>G (p.Glu2134Gly) rs1023433954
NM_005045.4(RELN):c.6404T>C (p.Met2135Thr)
NM_005045.4(RELN):c.6458G>A (p.Gly2153Asp) rs144387303
NM_005045.4(RELN):c.6512A>G (p.Asp2171Gly) rs754745320
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) rs146877597
NM_005045.4(RELN):c.6576A>T (p.Arg2192=)
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln) rs200010849
NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser) rs201422815
NM_005045.4(RELN):c.6839T>A (p.Ile2280Lys)
NM_005045.4(RELN):c.6854G>T (p.Arg2285Leu) rs116394157
NM_005045.4(RELN):c.6875G>A (p.Arg2292His) rs565382144
NM_005045.4(RELN):c.690G>C (p.Gln230His) rs1302068842
NM_005045.4(RELN):c.6925G>A (p.Asp2309Asn) rs138978280
NM_005045.4(RELN):c.6938T>C (p.Ile2313Thr) rs141004002
NM_005045.4(RELN):c.6976G>A (p.Asp2326Asn)
NM_005045.4(RELN):c.697G>A (p.Ala233Thr) rs181961566
NM_005045.4(RELN):c.7036G>A (p.Val2346Met)
NM_005045.4(RELN):c.7055A>T (p.Asp2352Val) rs143688278
NM_005045.4(RELN):c.7114G>A (p.Val2372Met) rs114344654
NM_005045.4(RELN):c.7147G>A (p.Ala2383Thr) rs978248682
NM_005045.4(RELN):c.7310A>G (p.Lys2437Arg) rs762951578
NM_005045.4(RELN):c.7423G>A (p.Val2475Ile) rs764015748
NM_005045.4(RELN):c.7498G>A (p.Glu2500Lys) rs1554369707
NM_005045.4(RELN):c.7580C>A (p.Ser2527Tyr)
NM_005045.4(RELN):c.7590C>A (p.Asn2530Lys) rs766869538
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val) rs116634494
NM_005045.4(RELN):c.7668G>C (p.Gly2556=) rs1554369642
NM_005045.4(RELN):c.7757C>T (p.Thr2586Ile) rs202172902
NM_005045.4(RELN):c.7897G>A (p.Glu2633Lys)
NM_005045.4(RELN):c.7909C>T (p.Arg2637Cys) rs587780438
NM_005045.4(RELN):c.7915C>T (p.Arg2639Cys) rs770944264
NM_005045.4(RELN):c.7943T>C (p.Leu2648Pro)
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile) rs375985673
NM_005045.4(RELN):c.8029G>A (p.Ala2677Thr) rs747571208
NM_005045.4(RELN):c.8095A>G (p.Met2699Val)
NM_005045.4(RELN):c.8114C>T (p.Thr2705Ile) rs1554368281
NM_005045.4(RELN):c.8119+6T>G
NM_005045.4(RELN):c.8141A>G (p.His2714Arg)
NM_005045.4(RELN):c.8146G>A (p.Asp2716Asn) rs771804551
NM_005045.4(RELN):c.8181T>G (p.Asp2727Glu)
NM_005045.4(RELN):c.8182G>A (p.Gly2728Ser) rs1463489255
NM_005045.4(RELN):c.8195G>T (p.Cys2732Phe) rs777843062
NM_005045.4(RELN):c.8212C>T (p.Arg2738Trp) rs202166176
NM_005045.4(RELN):c.8239C>A (p.Leu2747Met)
NM_005045.4(RELN):c.8261T>G (p.Ile2754Ser) rs771681966
NM_005045.4(RELN):c.8378G>A (p.Cys2793Tyr)
NM_005045.4(RELN):c.8411T>C (p.Val2804Ala)
NM_005045.4(RELN):c.8490-3T>C rs373564931
NM_005045.4(RELN):c.855A>G (p.Leu285=) rs749680856
NM_005045.4(RELN):c.8614A>G (p.Ile2872Val)
NM_005045.4(RELN):c.8810C>T (p.Ala2937Val)
NM_005045.4(RELN):c.8843+3A>C rs200124755
NM_005045.4(RELN):c.892G>A (p.Glu298Lys)
NM_005045.4(RELN):c.9109G>C (p.Glu3037Gln) rs142059680
NM_005045.4(RELN):c.9220A>T (p.Ser3074Cys) rs774630932
NM_005045.4(RELN):c.9295_9297AAG[1] (p.Lys3100del) rs762015967
NM_005045.4(RELN):c.9329G>A (p.Arg3110Gln) rs368572382
NM_005045.4(RELN):c.9340A>G (p.Ile3114Val) rs149613347
NM_005045.4(RELN):c.9406C>G (p.Leu3136Val) rs767535167
NM_005045.4(RELN):c.9446C>T (p.Ser3149Leu)
NM_005045.4(RELN):c.9459G>C (p.Gln3153His) rs1554362509
NM_005045.4(RELN):c.9463G>A (p.Val3155Ile)
NM_005045.4(RELN):c.9478C>G (p.Leu3160Val)
NM_005045.4(RELN):c.9505T>G (p.Cys3169Gly) rs1394617861
NM_005045.4(RELN):c.9606-3C>T
NM_005045.4(RELN):c.9669C>G (p.Asp3223Glu) rs1442238479
NM_005045.4(RELN):c.9709G>A (p.Gly3237Arg)
NM_005045.4(RELN):c.9751G>A (p.Glu3251Lys) rs376520049
NM_005045.4(RELN):c.9753G>C (p.Glu3251Asp)
NM_005045.4(RELN):c.9790G>A (p.Asp3264Asn) rs770064368
NM_005045.4(RELN):c.9796C>T (p.Pro3266Ser)
NM_005045.4(RELN):c.9991A>G (p.Met3331Val) rs1554360669
NM_005076.5(CNTN2):c.1034G>A (p.Arg345His)
NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser) rs371816961
NM_005076.5(CNTN2):c.1115G>A (p.Arg372Gln) rs1223229519
NM_005076.5(CNTN2):c.1171G>A (p.Gly391Ser)
NM_005076.5(CNTN2):c.1225G>A (p.Glu409Lys) rs1332074487
NM_005076.5(CNTN2):c.1290G>A (p.Ala430=)
NM_005076.5(CNTN2):c.1295G>A (p.Arg432His)
NM_005076.5(CNTN2):c.1367C>T (p.Thr456Met)
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr) rs147693556
NM_005076.5(CNTN2):c.1411G>A (p.Gly471Ser) rs191357187
NM_005076.5(CNTN2):c.1438C>T (p.Arg480Trp)
NM_005076.5(CNTN2):c.1439G>A (p.Arg480Gln)
NM_005076.5(CNTN2):c.1441T>C (p.Ser481Pro) rs1362090710
NM_005076.5(CNTN2):c.1460C>T (p.Thr487Ile) rs116647440
NM_005076.5(CNTN2):c.1495A>G (p.Ser499Gly)
NM_005076.5(CNTN2):c.1516C>T (p.Arg506Ter)
NM_005076.5(CNTN2):c.1555G>A (p.Asp519Asn)
NM_005076.5(CNTN2):c.158C>T (p.Thr53Met)
NM_005076.5(CNTN2):c.1695G>A (p.Val565=) rs148801784
NM_005076.5(CNTN2):c.1786G>A (p.Ala596Thr) rs556646437
NM_005076.5(CNTN2):c.1820C>T (p.Pro607Leu)
NM_005076.5(CNTN2):c.184C>T (p.Arg62Cys)
NM_005076.5(CNTN2):c.1915G>A (p.Ala639Thr)
NM_005076.5(CNTN2):c.1963C>G (p.Gln655Glu) rs1262628184
NM_005076.5(CNTN2):c.1986C>A (p.Asn662Lys)
NM_005076.5(CNTN2):c.2002G>A (p.Glu668Lys)
NM_005076.5(CNTN2):c.2026A>G (p.Thr676Ala)
NM_005076.5(CNTN2):c.2032T>A (p.Trp678Arg) rs1553347245
NM_005076.5(CNTN2):c.2104A>G (p.Lys702Glu)
NM_005076.5(CNTN2):c.2132C>T (p.Ser711Leu) rs114879710
NM_005076.5(CNTN2):c.215+6G>C rs370377460
NM_005076.5(CNTN2):c.223A>G (p.Met75Val)
NM_005076.5(CNTN2):c.235G>A (p.Glu79Lys)
NM_005076.5(CNTN2):c.2483A>G (p.Glu828Gly)
NM_005076.5(CNTN2):c.2506G>A (p.Val836Met)
NM_005076.5(CNTN2):c.2514G>C (p.Gln838His)
NM_005076.5(CNTN2):c.2544+3G>A
NM_005076.5(CNTN2):c.2608G>A (p.Asp870Asn) rs201107921
NM_005076.5(CNTN2):c.2629G>A (p.Gly877Ser)
NM_005076.5(CNTN2):c.2662G>A (p.Val888Met) rs775579054
NM_005076.5(CNTN2):c.2677C>T (p.Arg893Trp) rs149814483
NM_005076.5(CNTN2):c.2686A>T (p.Thr896Ser)
NM_005076.5(CNTN2):c.2741G>A (p.Arg914Gln)
NM_005076.5(CNTN2):c.2879C>T (p.Thr960Met)
NM_005076.5(CNTN2):c.3013+6G>C
NM_005076.5(CNTN2):c.3038T>C (p.Met1013Thr)
NM_005076.5(CNTN2):c.3050C>T (p.Pro1017Leu)
NM_005076.5(CNTN2):c.3066C>T (p.Gly1022=)
NM_005076.5(CNTN2):c.3092T>C (p.Met1031Thr)
NM_005076.5(CNTN2):c.358G>A (p.Val120Ile) rs1424524492
NM_005076.5(CNTN2):c.424C>T (p.Pro142Ser)
NM_005076.5(CNTN2):c.514G>A (p.Glu172Lys) rs763168456
NM_005076.5(CNTN2):c.536C>T (p.Thr179Met) rs376459307
NM_005076.5(CNTN2):c.586C>T (p.Arg196Ter) rs537026414
NM_005076.5(CNTN2):c.635A>T (p.His212Leu) rs1558542528
NM_005076.5(CNTN2):c.689C>T (p.Ala230Val) rs138454536
NM_005076.5(CNTN2):c.704G>A (p.Arg235Gln) rs2229867
NM_005076.5(CNTN2):c.745A>G (p.Thr249Ala) rs1191773782
NM_005076.5(CNTN2):c.792T>G (p.Phe264Leu) rs183799891
NM_005076.5(CNTN2):c.820C>T (p.Arg274Cys) rs1473353987
NM_005076.5(CNTN2):c.821G>A (p.Arg274His) rs200893856
NM_005076.5(CNTN2):c.913G>C (p.Glu305Gln)
NM_005076.5(CNTN2):c.949G>A (p.Val317Met)
NM_005097.3(LGI1):c.-227T>C rs150194814
NM_005097.3(LGI1):c.-304C>T rs886047484
NM_005097.4(LGI1):c.*323A>C rs767119123
NM_005097.4(LGI1):c.*338G>C rs182654305
NM_005097.4(LGI1):c.*59T>A rs886047488
NM_005097.4(LGI1):c.-168G>A rs879390887
NM_005097.4(LGI1):c.-66G>C rs886047485
NM_005097.4(LGI1):c.1040T>C (p.Val347Ala)
NM_005097.4(LGI1):c.1125G>C (p.Ala375=) rs886047487
NM_005097.4(LGI1):c.1155A>C (p.Leu385=) rs202148793
NM_005097.4(LGI1):c.1210A>T (p.Ser404Cys) rs1564853070
NM_005097.4(LGI1):c.1220G>A (p.Arg407His) rs201376381
NM_005097.4(LGI1):c.1283A>G (p.Asn428Ser)
NM_005097.4(LGI1):c.1290G>A (p.Glu430=)
NM_005097.4(LGI1):c.1318G>A (p.Val440Met)
NM_005097.4(LGI1):c.1331T>A (p.Val444Glu)
NM_005097.4(LGI1):c.1336A>C (p.Ile446Leu) rs769204967
NM_005097.4(LGI1):c.135G>C (p.Val45=) rs768003944
NM_005097.4(LGI1):c.1370T>C (p.Val457Ala) rs1554907821
NM_005097.4(LGI1):c.1392G>A (p.Ser464=) rs148804268
NM_005097.4(LGI1):c.1439_1442del (p.Gln480fs) rs1554907835
NM_005097.4(LGI1):c.143G>A (p.Cys48Tyr) rs1554901937
NM_005097.4(LGI1):c.1465del (p.Tyr489fs)
NM_005097.4(LGI1):c.1471A>G (p.Ile491Val)
NM_005097.4(LGI1):c.1597C>T (p.Arg533Cys)
NM_005097.4(LGI1):c.1652T>C (p.Val551Ala)
NM_005097.4(LGI1):c.1669G>A (p.Ala557Thr) rs370955995
NM_005097.4(LGI1):c.191C>T (p.Thr64Ile) rs373616721
NM_005097.4(LGI1):c.205G>A (p.Val69Ile)
NM_005097.4(LGI1):c.215+7C>T
NM_005097.4(LGI1):c.269C>T (p.Thr90Met) rs796052692
NM_005097.4(LGI1):c.272C>T (p.Pro91Leu) rs796052693
NM_005097.4(LGI1):c.299C>T (p.Ser100Leu) rs1263918669
NM_005097.4(LGI1):c.310G>A (p.Asp104Asn) rs145675377
NM_005097.4(LGI1):c.345A>G (p.Pro115=) rs151104648
NM_005097.4(LGI1):c.398A>G (p.His133Arg) rs376452111
NM_005097.4(LGI1):c.407G>A (p.Arg136Gln) rs767254591
NM_005097.4(LGI1):c.464C>T (p.Pro155Leu)
NM_005097.4(LGI1):c.46C>G (p.Leu16Val) rs777973395
NM_005097.4(LGI1):c.625C>T (p.Arg209Cys)
NM_005097.4(LGI1):c.626G>A (p.Arg209His)
NM_005097.4(LGI1):c.634A>G (p.Asn212Asp) rs757629755
NM_005097.4(LGI1):c.647C>T (p.Ser216Leu)
NM_005097.4(LGI1):c.812C>T (p.Thr271Ile) rs140752487
NM_005097.4(LGI1):c.818G>A (p.Arg273Gln) rs750249658
NM_005097.4(LGI1):c.836C>G (p.Thr279Arg) rs1159639109
NM_005097.4(LGI1):c.837A>G (p.Thr279=) rs755068491
NM_005097.4(LGI1):c.838+11C>T rs886047486
NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr) rs147324129
NM_005506.4(SCARB2):c.1057A>G (p.Ile353Val)
NM_005506.4(SCARB2):c.1067T>C (p.Met356Thr)
NM_005506.4(SCARB2):c.1136C>T (p.Ala379Val) rs144147706
NM_005506.4(SCARB2):c.117G>A (p.Lys39=)
NM_005506.4(SCARB2):c.1194G>A (p.Thr398=) rs574498998
NM_005506.4(SCARB2):c.11G>A (p.Cys4Tyr) rs1196467385
NM_005506.4(SCARB2):c.1210A>G (p.Met404Val)
NM_005506.4(SCARB2):c.1229A>T (p.Tyr410Phe) rs777270813
NM_005506.4(SCARB2):c.1235A>G (p.Asn412Ser) rs771661901
NM_005506.4(SCARB2):c.1239+8C>G rs369265725
NM_005506.4(SCARB2):c.1262C>T (p.Thr421Met) rs149474488
NM_005506.4(SCARB2):c.1265C>T (p.Ala422Val) rs756606813
NM_005506.4(SCARB2):c.1271G>A (p.Arg424Gln) rs751827409
NM_005506.4(SCARB2):c.1302C>G (p.Ile434Met)
NM_005506.4(SCARB2):c.1327A>G (p.Met443Val)
NM_005506.4(SCARB2):c.1328T>C (p.Met443Thr) rs141250135
NM_005506.4(SCARB2):c.1373G>T (p.Cys458Phe)
NM_005506.4(SCARB2):c.1382_1383del (p.Gln461fs) rs1233094134
NM_005506.4(SCARB2):c.1412A>T (p.Glu471Val)
NM_005506.4(SCARB2):c.194A>G (p.Tyr65Cys) rs138955932
NM_005506.4(SCARB2):c.223A>T (p.Ile75Phe) rs1560716099
NM_005506.4(SCARB2):c.244C>T (p.Arg82Trp) rs142690468
NM_005506.4(SCARB2):c.277G>A (p.Glu93Lys) rs145870223
NM_005506.4(SCARB2):c.280C>T (p.Leu94Phe) rs752416481
NM_005506.4(SCARB2):c.379G>T (p.Asp127Tyr) rs148022786
NM_005506.4(SCARB2):c.381C>G (p.Asp127Glu) rs1553948511
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324
NM_005506.4(SCARB2):c.382C>T (p.Pro128Ser) rs143558324
NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu) rs117600063
NM_005506.4(SCARB2):c.443A>G (p.Gln148Arg) rs1560710284
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813
NM_005506.4(SCARB2):c.463A>G (p.Ile155Val) rs772434203
NM_005506.4(SCARB2):c.515C>T (p.Thr172Ile)
NM_005506.4(SCARB2):c.638A>T (p.Tyr213Phe) rs751953388
NM_005506.4(SCARB2):c.705-7A>G
NM_005506.4(SCARB2):c.746A>G (p.Asn249Ser) rs199837910
NM_005506.4(SCARB2):c.752C>T (p.Thr251Ile) rs1553948166
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln) rs368906199
NM_005506.4(SCARB2):c.825-3C>T
NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser) rs149997095
NM_005506.4(SCARB2):c.869T>A (p.Leu290Gln) rs1553948019
NM_005506.4(SCARB2):c.903A>G (p.Ile301Met) rs1485497925
NM_005506.4(SCARB2):c.911A>G (p.Asn304Ser) rs150870503
NM_005506.4(SCARB2):c.919G>A (p.Asp307Asn) rs142392473
NM_005506.4(SCARB2):c.962C>T (p.Ser321Leu) rs1553947990
NM_005506.4(SCARB2):c.9A>G (p.Arg3=) rs148558907
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr) rs374338349
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp) rs946076987
NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg) rs753397854
NM_005670.4(EPM2A):c.157G>A (p.Ala53Thr) rs763719276
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476
NM_005670.4(EPM2A):c.170C>T (p.Pro57Leu) rs1229724993
NM_005670.4(EPM2A):c.206_207delinsGC (p.Glu69Gly)
NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln) rs550455609
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) rs374826256
NM_005670.4(EPM2A):c.241G>A (p.Val81Met) rs747386643
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938
NM_005670.4(EPM2A):c.272G>A (p.Arg91Gln)
NM_005670.4(EPM2A):c.304A>G (p.Asn102Asp)
NM_005670.4(EPM2A):c.31C>T (p.Pro11Ser)
NM_005670.4(EPM2A):c.323G>A (p.Arg108His) rs202234583
NM_005670.4(EPM2A):c.332C>G (p.Thr111Ser) rs1480939817
NM_005670.4(EPM2A):c.410A>G (p.Asn137Ser) rs61757376
NM_005670.4(EPM2A):c.427A>G (p.Thr143Ala)
NM_005670.4(EPM2A):c.446T>C (p.Ile149Thr) rs796052430
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser) rs141919651
NM_005670.4(EPM2A):c.490A>G (p.Ile164Val)
NM_005670.4(EPM2A):c.495G>T (p.Trp165Cys)
NM_005670.4(EPM2A):c.4_39del (p.Arg2_Val13del)
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916
NM_005670.4(EPM2A):c.524A>G (p.His175Arg) rs1264840627
NM_005670.4(EPM2A):c.569T>A (p.Met190Lys) rs191406622
NM_005670.4(EPM2A):c.600G>T (p.Gln200His) rs142658692
NM_005670.4(EPM2A):c.631C>A (p.Pro211Thr)
NM_005670.4(EPM2A):c.632C>T (p.Pro211Leu)
NM_005670.4(EPM2A):c.640C>G (p.Pro214Ala) rs1278542056
NM_005670.4(EPM2A):c.644A>T (p.Asp215Val) rs144565191
NM_005670.4(EPM2A):c.67G>C (p.Val23Leu) rs1060503233
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860
NM_005670.4(EPM2A):c.701C>A (p.Pro234Gln) rs1554256976
NM_005670.4(EPM2A):c.706A>G (p.Met236Val) rs906096146
NM_005670.4(EPM2A):c.70G>C (p.Gly24Arg) rs1554269710
NM_005670.4(EPM2A):c.719-2A>T rs772082648
NM_005670.4(EPM2A):c.731T>G (p.Met244Arg)
NM_005670.4(EPM2A):c.743C>T (p.Ala248Val) rs374043005
NM_005670.4(EPM2A):c.745G>T (p.Val249Leu) rs1387516050
NM_005670.4(EPM2A):c.758A>T (p.His253Leu)
NM_005670.4(EPM2A):c.776G>A (p.Gly259Glu) rs200641543
NM_005670.4(EPM2A):c.77G>T (p.Arg26Leu) rs796052433
NM_005670.4(EPM2A):c.815G>A (p.Arg272His) rs958366800
NM_005670.4(EPM2A):c.825G>A (p.Ala275=) rs762115387
NM_005670.4(EPM2A):c.848A>G (p.Tyr283Cys) rs897601301
NM_005670.4(EPM2A):c.904G>A (p.Ala302Thr) rs755742563
NM_005670.4(EPM2A):c.919G>A (p.Glu307Lys)
NM_005670.4(EPM2A):c.92G>A (p.Arg31His) rs1562535536
NM_005670.4(EPM2A):c.94T>A (p.Trp32Arg)
NM_005670.4(EPM2A):c.979T>C (p.Ser327Pro) rs768781694
NM_005670.4(EPM2A):c.986G>A (p.Cys329Tyr)
NM_006493.2(CLN5):c.101C>G (p.Pro34Arg) rs937545860
NM_006493.2(CLN5):c.127G>A (p.Gly43Arg) rs529998879
NM_006493.2(CLN5):c.1A>C (p.Met1Leu) rs1268502139
NM_006493.2(CLN5):c.1A>G (p.Met1Val) rs1268502139
NM_006493.2(CLN5):c.22G>C (p.Gly8Arg) rs762873839
NM_006493.2(CLN5):c.25C>T (p.Pro9Ser)
NM_006493.2(CLN5):c.2T>A (p.Met1Lys) rs201615354
NM_006493.2(CLN5):c.2T>C (p.Met1Thr) rs201615354
NM_006493.2(CLN5):c.35G>T (p.Gly12Val) rs1465531119
NM_006493.2(CLN5):c.52C>A (p.Gln18Lys) rs773979248
NM_006493.2(CLN5):c.52C>T (p.Gln18Ter) rs773979248
NM_006493.2(CLN5):c.62C>T (p.Pro21Leu) rs988786332
NM_006493.2(CLN5):c.65G>T (p.Arg22Leu) rs576642281
NM_006493.2(CLN5):c.74T>C (p.Leu25Pro) rs1182554801
NM_006493.2(CLN5):c.7C>T (p.Arg3Trp) rs759859373
NM_006493.2:c.17G>T
NM_006493.2:c.64C>A
NM_006493.2:c.70G>T
NM_006493.4(CLN5):c.-14C>T rs768714949
NM_006493.4(CLN5):c.-7C>A rs1555273557
NM_006493.4(CLN5):c.1019A>C (p.Lys340Thr) rs745767054
NM_006493.4(CLN5):c.1034_1037dup (p.Pro347fs) rs1555274391
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser) rs41287036
NM_006493.4(CLN5):c.1048A>G (p.Ile350Val)
NM_006493.4(CLN5):c.1048_1051dup (p.Arg351fs) rs1555274402
NM_006493.4(CLN5):c.106G>C (p.Ala36Pro) rs778982551
NM_006493.4(CLN5):c.1074A>T (p.Leu358Phe) rs1555274416
NM_006493.4(CLN5):c.116C>T (p.Pro39Leu) rs1285996011
NM_006493.4(CLN5):c.136G>T (p.Gly46Cys) rs775102823
NM_006493.4(CLN5):c.176G>A (p.Arg59His)
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211
NM_006493.4(CLN5):c.188G>A (p.Arg63His) rs104894386
NM_006493.4(CLN5):c.19A>G (p.Thr7Ala) rs541501705
NM_006493.4(CLN5):c.208T>C (p.Cys70Arg)
NM_006493.4(CLN5):c.224C>T (p.Thr75Ile) rs376336781
NM_006493.4(CLN5):c.265G>A (p.Asp89Asn) rs138110438
NM_006493.4(CLN5):c.304T>G (p.Trp102Gly)
NM_006493.4(CLN5):c.31G>T (p.Ala11Ser) rs563306322
NM_006493.4(CLN5):c.339+6G>A rs1468101
NM_006493.4(CLN5):c.33_50dup (p.Glu12_Ala17dup) rs1555273571
NM_006493.4(CLN5):c.371G>A (p.Ser124Asn) rs369122820
NM_006493.4(CLN5):c.398T>G (p.Met133Arg) rs1419308949
NM_006493.4(CLN5):c.424G>C (p.Gly142Arg) rs201464545
NM_006493.4(CLN5):c.430T>C (p.Cys144Arg)
NM_006493.4(CLN5):c.459G>A (p.Met153Ile) rs144656959
NM_006493.4(CLN5):c.47_52GCGCGG[3] (p.16_17GA[3]) rs1409904698
NM_006493.4(CLN5):c.486C>T (p.Gly162=)
NM_006493.4(CLN5):c.490G>T (p.Ala164Ser)
NM_006493.4(CLN5):c.500T>C (p.Phe167Ser) rs1393893027
NM_006493.4(CLN5):c.505G>A (p.Gly169Arg) rs1420822940
NM_006493.4(CLN5):c.526A>G (p.Lys176Glu) rs142870036
NM_006493.4(CLN5):c.550G>A (p.Val184Ile) rs1566219289
NM_006493.4(CLN5):c.553_561del (p.Ala185_Ile187del) rs1555274012
NM_006493.4(CLN5):c.565+2dup rs1476787722
NM_006493.4(CLN5):c.565+3_565+4dup rs745312608
NM_006493.4(CLN5):c.569A>G (p.Asn190Ser) rs369100769
NM_006493.4(CLN5):c.574T>G (p.Phe192Val) rs1555274325
NM_006493.4(CLN5):c.61C>T (p.Arg21Trp) rs376454715
NM_006493.4(CLN5):c.639T>A (p.Asn213Lys) rs1312706135
NM_006493.4(CLN5):c.656A>C (p.Glu219Ala) rs11842935
NM_006493.4(CLN5):c.661G>C (p.Gly221Arg) rs755669847
NM_006493.4(CLN5):c.675G>C (p.Trp225Cys)
NM_006493.4(CLN5):c.702T>G (p.Phe234Leu)
NM_006493.4(CLN5):c.704T>C (p.Val235Ala) rs535755345
NM_006493.4(CLN5):c.812A>G (p.Asn271Ser) rs199609750
NM_006493.4(CLN5):c.869G>T (p.Arg290Ile) rs770688728
NM_006493.4(CLN5):c.904A>G (p.Lys302Glu) rs1060502320
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser)
NM_006493.4(CLN5):c.960G>C (p.Gln320His)
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys) rs386833968
NM_006545.5(NPRL2):c.233G>T (p.Arg78Leu) rs1559857717
NM_006545.5(NPRL2):c.602A>C (p.Asp201Ala) rs202157450
NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu) rs199975643
NM_006922.4(SCN3A):c.2021G>A (p.Gly674Asp) rs751294193
NM_006922.4(SCN3A):c.3253A>G (p.Ile1085Val) rs144957412
NM_015973.3:c.82del
NM_015973.5(GAL):c.137-2A>G
NM_015973.5(GAL):c.140C>T (p.Ala47Val) rs374472664
NM_015973.5(GAL):c.166G>A (p.Asp56Asn)
NM_015973.5(GAL):c.178C>T (p.Leu60Phe)
NM_015973.5(GAL):c.199C>T (p.Arg67Trp) rs200075890
NM_015973.5(GAL):c.205G>A (p.Glu69Lys) rs571107777
NM_015973.5(GAL):c.263G>A (p.Arg88His) rs778530092
NM_015973.5(GAL):c.43G>A (p.Ala15Thr)
NM_015973.5(GAL):c.55T>C (p.Ser19Pro) rs746008445
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr) rs146198681
NM_017882.3(CLN6):c.115C>T (p.Arg39Cys)
NM_017882.3(CLN6):c.116G>A (p.Arg39His) rs779456928
NM_017882.3(CLN6):c.119C>T (p.Thr40Met) rs769199442
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) rs1451777867
NM_017882.3(CLN6):c.224C>T (p.Pro75Leu)
NM_017882.3(CLN6):c.259A>G (p.Met87Val) rs532180601
NM_017882.3(CLN6):c.271G>A (p.Val91Ile) rs140519790
NM_017882.3(CLN6):c.278C>T (p.Thr93Met) rs150001589
NM_017882.3(CLN6):c.285T>A (p.Phe95Leu) rs796052350
NM_017882.3(CLN6):c.299T>G (p.Leu100Arg) rs1555438702
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys) rs796052352
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys) rs202226970
NM_017882.3(CLN6):c.329G>A (p.Arg110His) rs140179213
NM_017882.3(CLN6):c.331T>C (p.Ser111Pro)
NM_017882.3(CLN6):c.349_351ATC[2] (p.Ile119del) rs886051447
NM_017882.3(CLN6):c.371C>T (p.Ala124Val) rs1567095879
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly) rs772893554
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys)
NM_017882.3(CLN6):c.41G>A (p.Gly14Asp)
NM_017882.3(CLN6):c.443T>A (p.Val148Asp) rs1555438678
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys) rs747229909
NM_017882.3(CLN6):c.446G>A (p.Arg149His) rs154774638
NM_017882.3(CLN6):c.482C>T (p.Thr161Met) rs757734645
NM_017882.3(CLN6):c.490G>A (p.Asp164Asn) rs779685727
NM_017882.3(CLN6):c.494C>T (p.Ser165Phe)
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro) rs1344658850
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys) rs750081097
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345
NM_017882.3(CLN6):c.559C>T (p.Leu187Phe)
NM_017882.3(CLN6):c.571A>G (p.Met191Val) rs1555438435
NM_017882.3(CLN6):c.583G>A (p.Gly195Ser)
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu) rs587780316
NM_017882.3(CLN6):c.61G>A (p.Gly21Ser)
NM_017882.3(CLN6):c.61_62insCGG (p.Gly21_Ala22insAla) rs878855040
NM_017882.3(CLN6):c.634C>T (p.Leu212Phe)
NM_017882.3(CLN6):c.649A>G (p.Ser217Gly) rs1567095087
NM_017882.3(CLN6):c.64G>A (p.Ala22Thr) rs527373013
NM_017882.3(CLN6):c.666-5T>A rs1401270931
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722
NM_017882.3(CLN6):c.702C>A (p.Phe234Leu) rs1555438267
NM_017882.3(CLN6):c.706T>G (p.Phe236Val) rs796052358
NM_017882.3(CLN6):c.718G>A (p.Ala240Thr) rs779105796
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948
NM_017882.3(CLN6):c.733G>A (p.Val245Ile) rs377192977
NM_017882.3(CLN6):c.749G>A (p.Arg250His) rs554594996
NM_017882.3(CLN6):c.754C>T (p.Arg252Cys) rs145746878
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194
NM_017882.3(CLN6):c.775G>C (p.Gly259Arg) rs150363441
NM_017882.3(CLN6):c.775G>T (p.Gly259Cys) rs150363441
NM_017882.3(CLN6):c.821C>T (p.Ala274Val) rs202012876
NM_017882.3(CLN6):c.832G>A (p.Ala278Thr) rs143728911
NM_017882.3(CLN6):c.850C>T (p.Pro284Ser)
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323
NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter) rs1448520404
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698
NM_017882.3(CLN6):c.929G>A (p.Arg310Gln)
NM_018100.3(EFHC1):c.-162C>T rs41273738
NM_018100.4(EFHC1):c.*1024C>T rs372975445
NM_018100.4(EFHC1):c.*1025_*1026AT[12] rs59794069
NM_018100.4(EFHC1):c.*1025_*1026AT[13] rs59794069
NM_018100.4(EFHC1):c.*1025_*1026AT[14] rs59794069
NM_018100.4(EFHC1):c.*1025_*1026AT[19] rs59794069
NM_018100.4(EFHC1):c.*1025_*1026AT[20] rs59794069
NM_018100.4(EFHC1):c.*1025_*1026AT[21] rs59794069
NM_018100.4(EFHC1):c.*1045delinsATATATATATATA rs886061633
NM_018100.4(EFHC1):c.*1045delinsATATATATATATATATATATATATATATATATA rs886061633
NM_018100.4(EFHC1):c.*1064_*1065AC[4] rs886061634
NM_018100.4(EFHC1):c.*140C>T rs78906153
NM_018100.4(EFHC1):c.*1481_*1482TC[1] rs886061636
NM_018100.4(EFHC1):c.*1576C>A rs547537212
NM_018100.4(EFHC1):c.*1813dup rs201262358
NM_018100.4(EFHC1):c.*1876T>G rs148070071
NM_018100.4(EFHC1):c.*2023T>C rs886061638
NM_018100.4(EFHC1):c.*2211C>T rs753392817
NM_018100.4(EFHC1):c.*226A>G rs562067977
NM_018100.4(EFHC1):c.*2430C>T rs749445189
NM_018100.4(EFHC1):c.*2913G>C rs886061639
NM_018100.4(EFHC1):c.*527C>T rs540732861
NM_018100.4(EFHC1):c.*549_*550TA[3] rs886061631
NM_018100.4(EFHC1):c.*66C>G rs574373324
NM_018100.4(EFHC1):c.*681G>A rs560182875
NM_018100.4(EFHC1):c.*896C>T rs112311115
NM_018100.4(EFHC1):c.*957C>T rs761411516
NM_018100.4(EFHC1):c.*99T>A rs151292895
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp) rs527295360
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp) rs371151471
NM_018100.4(EFHC1):c.1147C>T (p.Pro383Ser) rs546262142
NM_018100.4(EFHC1):c.1171del (p.Glu391fs)
NM_018100.4(EFHC1):c.1180G>A (p.Ala394Thr) rs1562458726
NM_018100.4(EFHC1):c.1194T>C (p.Phe398=) rs201946033
NM_018100.4(EFHC1):c.1197T>C (p.Ala399=) rs886061630
NM_018100.4(EFHC1):c.1221dup (p.Asp408fs) rs754483740
NM_018100.4(EFHC1):c.125G>A (p.Arg42His) rs773598517
NM_018100.4(EFHC1):c.1265A>T (p.Tyr422Phe) rs750259384
NM_018100.4(EFHC1):c.1274T>G (p.Val425Gly)
NM_018100.4(EFHC1):c.1280A>G (p.Glu427Gly) rs756563341
NM_018100.4(EFHC1):c.1306C>T (p.Arg436Cys) rs377286138
NM_018100.4(EFHC1):c.1337C>T (p.Thr446Ile)
NM_018100.4(EFHC1):c.1369C>T (p.Arg457Cys) rs373196171
NM_018100.4(EFHC1):c.1370G>T (p.Arg457Leu) rs369468811
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr) rs200116252
NM_018100.4(EFHC1):c.1396T>G (p.Tyr466Asp)
NM_018100.4(EFHC1):c.144C>T (p.Gly48=) rs372240827
NM_018100.4(EFHC1):c.1451A>G (p.Tyr484Cys) rs201261630
NM_018100.4(EFHC1):c.145G>A (p.Gly49Arg)
NM_018100.4(EFHC1):c.1492+1G>A rs191404037
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp) rs374661645
NM_018100.4(EFHC1):c.1548G>A (p.Met516Ile)
NM_018100.4(EFHC1):c.1549_1559delinsTTTTGAAATACA (p.Glu517_Ala520delinsPheTer) rs1554261668
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=) rs773385237
NM_018100.4(EFHC1):c.1562C>G (p.Ala521Gly)
NM_018100.4(EFHC1):c.1586C>A (p.Ala529Glu) rs759944784
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=) rs377227885
NM_018100.4(EFHC1):c.1606C>G (p.Arg536Gly)
NM_018100.4(EFHC1):c.1606C>T (p.Arg536Ter)
NM_018100.4(EFHC1):c.1607G>C (p.Arg536Pro)
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588
NM_018100.4(EFHC1):c.1641-6C>G rs1554262183
NM_018100.4(EFHC1):c.165C>G (p.Asn55Lys)
NM_018100.4(EFHC1):c.1663G>A (p.Gly555Ser)
NM_018100.4(EFHC1):c.1665C>T (p.Gly555=) rs369201702
NM_018100.4(EFHC1):c.1739G>C (p.Arg580Pro) rs752701116
NM_018100.4(EFHC1):c.1765G>A (p.Glu589Lys) rs201197637
NM_018100.4(EFHC1):c.1768G>C (p.Ala590Pro)
NM_018100.4(EFHC1):c.1776A>G (p.Gly592=)
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191
NM_018100.4(EFHC1):c.1841_1851+13del rs775583843
NM_018100.4(EFHC1):c.187G>A (p.Asp63Asn) rs750083920
NM_018100.4(EFHC1):c.1888A>G (p.Asn630Asp) rs747171841
NM_018100.4(EFHC1):c.1892A>G (p.Tyr631Cys) rs574948354
NM_018100.4(EFHC1):c.1895A>G (p.Tyr632Cys) rs770182350
NM_018100.4(EFHC1):c.199A>G (p.Ser67Gly)
NM_018100.4(EFHC1):c.21T>G (p.His7Gln)
NM_018100.4(EFHC1):c.241C>T (p.Pro81Ser) rs1562442253
NM_018100.4(EFHC1):c.266A>G (p.His89Arg) rs543160745
NM_018100.4(EFHC1):c.290T>C (p.Leu97Pro)
NM_018100.4(EFHC1):c.305A>G (p.Tyr102Cys)
NM_018100.4(EFHC1):c.344A>G (p.Tyr115Cys) rs371610025
NM_018100.4(EFHC1):c.346A>G (p.Arg116Gly) rs886061627
NM_018100.4(EFHC1):c.379G>C (p.Glu127Gln) rs1554258778
NM_018100.4(EFHC1):c.40G>A (p.Gly14Ser) rs1554257650
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala) rs750899949
NM_018100.4(EFHC1):c.484C>T (p.His162Tyr) rs112800954
NM_018100.4(EFHC1):c.526A>G (p.Ile176Val)
NM_018100.4(EFHC1):c.544C>T (p.Arg182Cys) rs200191497
NM_018100.4(EFHC1):c.547G>A (p.Val183Ile) rs769591944
NM_018100.4(EFHC1):c.54G>T (p.Lys18Asn)
NM_018100.4(EFHC1):c.556_557TG[1] (p.Cys186_Asp187delinsTer) rs1562447137
NM_018100.4(EFHC1):c.559G>A (p.Asp187Asn) rs148615781
NM_018100.4(EFHC1):c.564A>G (p.Gln188=) rs766444850
NM_018100.4(EFHC1):c.598G>C (p.Glu200Gln)
NM_018100.4(EFHC1):c.59C>T (p.Ser20Phe)
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379
NM_018100.4(EFHC1):c.637A>G (p.Thr213Ala)
NM_018100.4(EFHC1):c.637A>T (p.Thr213Ser)
NM_018100.4(EFHC1):c.64-5T>C rs201860746
NM_018100.4(EFHC1):c.646C>T (p.Arg216Ter)
NM_018100.4(EFHC1):c.647G>A (p.Arg216Gln) rs77682973
NM_018100.4(EFHC1):c.666_671del (p.Lys222_Val224delinsAsn) rs886061628
NM_018100.4(EFHC1):c.666_674delinsAAG (p.Tyr223_Thr225delinsSer) rs1554259746
NM_018100.4(EFHC1):c.682_692del (p.Asp228fs) rs775980459
NM_018100.4(EFHC1):c.68C>T (p.Thr23Ile) rs779993809
NM_018100.4(EFHC1):c.693A>C (p.Gln231His)
NM_018100.4(EFHC1):c.710C>A (p.Thr237Asn)
NM_018100.4(EFHC1):c.731G>A (p.Arg244Gln) rs140476054
NM_018100.4(EFHC1):c.749A>T (p.Asp250Val) rs1562453181
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln) rs145754721
NM_018100.4(EFHC1):c.797A>G (p.Tyr266Cys)
NM_018100.4(EFHC1):c.800A>G (p.Tyr267Cys) rs886061629
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu) rs369926953
NM_018100.4(EFHC1):c.854G>A (p.Arg285Lys)
NM_018100.4(EFHC1):c.879C>G (p.Asn293Lys) rs1562453330
NM_018100.4(EFHC1):c.880C>T (p.Arg294Cys)
NM_018100.4(EFHC1):c.887G>A (p.Arg296His) rs115205076
NM_018100.4(EFHC1):c.896A>G (p.Lys299Arg)
NM_018100.4(EFHC1):c.90G>A (p.Thr30=) rs140429638
NM_018100.4(EFHC1):c.911A>G (p.Asn304Ser) rs142107827
NM_018100.4(EFHC1):c.915A>G (p.Ala305=) rs1060503381
NM_018100.4(EFHC1):c.916A>G (p.Lys306Glu) rs201263733
NM_018100.4(EFHC1):c.97T>C (p.Tyr33His) rs374402088
NM_018941.3(CLN8):c.-123-1G>C rs1554448791
NM_018941.3(CLN8):c.-131_-124+13del21 rs1554446821
NM_018941.3(CLN8):c.106T>A (p.Leu36Met) rs1554448978
NM_018941.3(CLN8):c.108G>C (p.Leu36Phe) rs746677418
NM_018941.3(CLN8):c.117T>G (p.Phe39Leu)
NM_018941.3(CLN8):c.127C>T (p.His43Tyr)
NM_018941.3(CLN8):c.140C>T (p.Ser47Phe)
NM_018941.3(CLN8):c.19G>A (p.Gly7Arg)
NM_018941.3(CLN8):c.200C>T (p.Ala67Val) rs373957283
NM_018941.3(CLN8):c.209G>A (p.Arg70His) rs386834124
NM_018941.3(CLN8):c.284A>G (p.Lys95Arg)
NM_018941.3(CLN8):c.331A>G (p.Thr111Ala) rs1563107925
NM_018941.3(CLN8):c.374A>G (p.Asn125Ser) rs142269885
NM_018941.3(CLN8):c.385C>T (p.Arg129Trp) rs143694317
NM_018941.3(CLN8):c.386G>A (p.Arg129Gln) rs571617007
NM_018941.3(CLN8):c.406G>T (p.Val136Phe) rs187297173
NM_018941.3(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_018941.3(CLN8):c.471C>G (p.His157Gln)
NM_018941.3(CLN8):c.50A>G (p.Asp17Gly) rs148668081
NM_018941.3(CLN8):c.53A>T (p.Tyr18Phe) rs142104002
NM_018941.3(CLN8):c.545C>T (p.Ala182Val) rs541994118
NM_018941.3(CLN8):c.598A>T (p.Met200Leu)
NM_018941.3(CLN8):c.59C>G (p.Ser20Cys) rs749651452
NM_018941.3(CLN8):c.611G>A (p.Arg204His) rs386834134
NM_018941.3(CLN8):c.611G>T (p.Arg204Leu) rs386834134
NM_018941.3(CLN8):c.614T>C (p.Met205Thr) rs763967636
NM_018941.3(CLN8):c.619C>G (p.Leu207Val) rs151334741
NM_018941.3(CLN8):c.681T>A (p.Tyr227Ter) rs1554451561
NM_018941.3(CLN8):c.682C>G (p.Leu228Val)
NM_018941.3(CLN8):c.697C>G (p.Leu233Val) rs1380901432
NM_018941.3(CLN8):c.703del (p.Val236fs) rs761621368
NM_018941.3(CLN8):c.70C>T (p.Arg24Cys)
NM_018941.3(CLN8):c.721C>G (p.Leu241Val) rs1554451594
NM_018941.3(CLN8):c.776A>G (p.Asn259Ser) rs201956727
NM_018941.3(CLN8):c.779C>T (p.Pro260Leu) rs146579299
NM_018941.3(CLN8):c.77C>T (p.Thr26Met) rs755846977
NM_018941.3(CLN8):c.788G>A (p.Trp263Ter) rs878855053
NM_018941.3(CLN8):c.806A>G (p.Glu269Gly) rs139003032
NM_018941.3(CLN8):c.806A>T (p.Glu269Val) rs139003032
NM_018941.3(CLN8):c.823G>C (p.Glu275Gln) rs749774943
NM_018941.3(CLN8):c.832G>A (p.Gly278Arg) rs1358513612
NM_018941.3(CLN8):c.845G>A (p.Arg282Gln) rs766172825
NM_018941.3(CLN8):c.94T>C (p.Phe32Leu) rs758068226
NM_018941.3(CLN8):c.98T>C (p.Val33Ala) rs1301388199
NM_020226.3(PRDM8):c.1075G>A (p.Gly359Ser)
NM_020226.3(PRDM8):c.1147C>T (p.Arg383Cys)
NM_020226.3(PRDM8):c.1210G>A (p.Ala404Thr) rs1422650743
NM_020226.3(PRDM8):c.1225G>A (p.Val409Ile) rs1483533129
NM_020226.3(PRDM8):c.1367G>A (p.Arg456Lys) rs940171879
NM_020226.3(PRDM8):c.1390C>T (p.Pro464Ser) rs201251555
NM_020226.3(PRDM8):c.1412G>A (p.Ser471Asn) rs575791037
NM_020226.3(PRDM8):c.1426G>A (p.Gly476Ser)
NM_020226.3(PRDM8):c.1436G>A (p.Gly479Asp) rs1560479017
NM_020226.3(PRDM8):c.1450G>A (p.Gly484Ser)
NM_020226.3(PRDM8):c.1466G>A (p.Gly489Asp) rs1379672825
NM_020226.3(PRDM8):c.1468C>G (p.Gln490Glu) rs1560479209
NM_020226.3(PRDM8):c.1474G>A (p.Ala492Thr) rs1560479219
NM_020226.3(PRDM8):c.1530G>T (p.Gln510His) rs750341856
NM_020226.3(PRDM8):c.1573C>G (p.Pro525Ala) rs575215294
NM_020226.3(PRDM8):c.1643A>G (p.Lys548Arg) rs1320311514
NM_020226.3(PRDM8):c.164T>A (p.Ile55Lys)
NM_020226.3(PRDM8):c.1650G>C (p.Gln550His)
NM_020226.3(PRDM8):c.1651G>A (p.Gly551Arg)
NM_020226.3(PRDM8):c.1721C>G (p.Pro574Arg)
NM_020226.3(PRDM8):c.1767_1775dup (p.Ala596_Ala598dup)
NM_020226.3(PRDM8):c.1805_1810AGCTGC[1] (p.602_603QL[1])
NM_020226.3(PRDM8):c.1813C>G (p.Leu605Val)
NM_020226.3(PRDM8):c.1838C>G (p.Pro613Arg) rs1553906552
NM_020226.3(PRDM8):c.1951_1952delinsAT (p.Glu651Met)
NM_020226.3(PRDM8):c.1955A>G (p.Tyr652Cys) rs758969495
NM_020226.3(PRDM8):c.1966C>T (p.Pro656Ser)
NM_020226.3(PRDM8):c.2057C>G (p.Thr686Ser) rs1560481395
NM_020226.3(PRDM8):c.26G>A (p.Gly9Asp) rs756625230
NM_020226.3(PRDM8):c.329G>C (p.Gly110Ala) rs200777615
NM_020226.3(PRDM8):c.412C>T (p.Leu138Phe) rs775975261
NM_020226.3(PRDM8):c.506C>T (p.Pro169Leu)
NM_020226.3(PRDM8):c.543A>T (p.Arg181Ser)
NM_020226.3(PRDM8):c.589G>T (p.Val197Leu)
NM_020226.3(PRDM8):c.622G>A (p.Gly208Ser) rs761182081
NM_020226.3(PRDM8):c.634_636CAG[7] (p.Gln217dup) rs748593482
NM_020226.3(PRDM8):c.647A>T (p.Gln216Leu)
NM_020226.3(PRDM8):c.687A>C (p.Lys229Asn) rs1553905669
NM_020226.3(PRDM8):c.721C>T (p.Pro241Ser) rs201806195
NM_020226.3(PRDM8):c.847C>A (p.Leu283Ile) rs1211529205
NM_020226.3(PRDM8):c.850_861del (p.Ser284_Ser287del) rs1455395711
NM_020226.3(PRDM8):c.865A>G (p.Ser289Gly)
NM_020226.3(PRDM8):c.868G>A (p.Gly290Ser) rs756736858
NM_020226.3(PRDM8):c.884A>C (p.His295Pro)
NM_020226.3(PRDM8):c.998G>T (p.Arg333Leu) rs1323000516
NM_020361.4(CPA6):c.-222_-220delGCT rs144013159
NM_020361.4(CPA6):c.-247C>A rs530580560
NM_020361.4(CPA6):c.1127-15dupT rs60236534
NM_020361.4(CPA6):c.1127-16_1127-15dupTT rs60236534
NM_020361.5(CPA6):c.*242T>C rs527673781
NM_020361.5(CPA6):c.*260A>C rs531558365
NM_020361.5(CPA6):c.-11_-10del rs531326049
NM_020361.5(CPA6):c.-160del rs796925267
NM_020361.5(CPA6):c.-45C>A rs767794744
NM_020361.5(CPA6):c.-76T>G rs886063083
NM_020361.5(CPA6):c.1019C>T (p.Thr340Ile)
NM_020361.5(CPA6):c.1021A>G (p.Ile341Val) rs766177388
NM_020361.5(CPA6):c.1077G>A (p.Gln359=) rs143536122
NM_020361.5(CPA6):c.107G>T (p.Arg36Leu)
NM_020361.5(CPA6):c.1087G>A (p.Gly363Arg) rs368528528
NM_020361.5(CPA6):c.109T>C (p.Tyr37His) rs886063082
NM_020361.5(CPA6):c.1126+13C>T rs768409721
NM_020361.5(CPA6):c.116+5G>C rs1281394588
NM_020361.5(CPA6):c.1192G>A (p.Glu398Lys)
NM_020361.5(CPA6):c.1199G>A (p.Arg400His) rs746177954
NM_020361.5(CPA6):c.125T>C (p.Val42Ala) rs1554526426
NM_020361.5(CPA6):c.1271C>T (p.Ala424Val) rs72654981
NM_020361.5(CPA6):c.127A>G (p.Ile43Val)
NM_020361.5(CPA6):c.1288A>G (p.Met430Val) rs774898194
NM_020361.5(CPA6):c.129_130del (p.Ile43fs)
NM_020361.5(CPA6):c.163del (p.Ala55fs)
NM_020361.5(CPA6):c.19C>T (p.Arg7Cys)
NM_020361.5(CPA6):c.20G>A (p.Arg7His)
NM_020361.5(CPA6):c.229T>A (p.Ser77Thr)
NM_020361.5(CPA6):c.290T>C (p.Phe97Ser)
NM_020361.5(CPA6):c.318G>C (p.Lys106Asn) rs886063081
NM_020361.5(CPA6):c.326T>C (p.Ile109Thr) rs151119622
NM_020361.5(CPA6):c.329A>T (p.Glu110Val)
NM_020361.5(CPA6):c.383G>A (p.Arg128Gln) rs779117472
NM_020361.5(CPA6):c.488_490del (p.Phe163del)
NM_020361.5(CPA6):c.491C>T (p.Ser164Phe) rs267601975
NM_020361.5(CPA6):c.494T>C (p.Ile165Thr) rs1487624789
NM_020361.5(CPA6):c.505T>C (p.Tyr169His) rs201643526
NM_020361.5(CPA6):c.517T>G (p.Ser173Ala)
NM_020361.5(CPA6):c.534+4A>G rs766728291
NM_020361.5(CPA6):c.538G>A (p.Gly180Ser) rs886063080
NM_020361.5(CPA6):c.544C>T (p.Arg182Ter) rs773734224
NM_020361.5(CPA6):c.557A>G (p.Lys186Arg) rs199576384
NM_020361.5(CPA6):c.636+5G>A rs1166618180
NM_020361.5(CPA6):c.707C>T (p.Pro236Leu) rs201552815
NM_020361.5(CPA6):c.715A>G (p.Asn239Asp) rs886063079
NM_020361.5(CPA6):c.725G>T (p.Gly242Val)
NM_020361.5(CPA6):c.757T>C (p.Trp253Arg) rs781369203
NM_020361.5(CPA6):c.757T>G (p.Trp253Gly) rs781369203
NM_020361.5(CPA6):c.759G>A (p.Trp253Ter) rs139178030
NM_020361.5(CPA6):c.791G>A (p.Arg264His) rs752555064
NM_020361.5(CPA6):c.797G>T (p.Arg266Leu) rs140612122
NM_020361.5(CPA6):c.902C>T (p.Pro301Leu) rs753468111
NM_020361.5(CPA6):c.905A>G (p.Glu302Gly)
NM_020361.5(CPA6):c.931C>T (p.Arg311Ter) rs139145929
NM_020361.5(CPA6):c.932G>A (p.Arg311Gln) rs143321447
NM_020361.5(CPA6):c.975A>G (p.Ala325=) rs138313759
NM_020361.5(CPA6):c.98A>G (p.Tyr33Cys) rs368736137
NM_020361.5(CPA6):c.994T>C (p.Tyr332His) rs1554662194
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln) rs758152252
NM_020822.3(KCNT1):c.1077_1078del (p.Gly361fs) rs796214553
NM_020822.3(KCNT1):c.10C>T (p.Pro4Ser)
NM_020822.3(KCNT1):c.110+1G>C
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) rs140367649
NM_020822.3(KCNT1):c.112C>G (p.Arg38Gly)
NM_020822.3(KCNT1):c.1139C>T (p.Ser380Phe) rs765193021
NM_020822.3(KCNT1):c.1174G>A (p.Glu392Lys) rs780708628
NM_020822.3(KCNT1):c.1186C>T (p.His396Tyr)
NM_020822.3(KCNT1):c.1201-5G>A
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser)
NM_020822.3(KCNT1):c.1249C>T (p.Arg417Cys) rs781342838
NM_020822.3(KCNT1):c.1250G>A (p.Arg417His) rs745965148
NM_020822.3(KCNT1):c.1338-3C>T rs369562243
NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe) rs869312682
NM_020822.3(KCNT1):c.1390C>T (p.Arg464Cys) rs1564367281
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met) rs539139475
NM_020822.3(KCNT1):c.1407C>G (p.His469Gln) rs537722828
NM_020822.3(KCNT1):c.1444G>A (p.Ala482Thr) rs577633745
NM_020822.3(KCNT1):c.146C>G (p.Thr49Ser) rs200137341
NM_020822.3(KCNT1):c.1490A>G (p.Lys497Arg)
NM_020822.3(KCNT1):c.1498G>A (p.Val500Ile)
NM_020822.3(KCNT1):c.152G>C (p.Gly51Ala) rs1554763393
NM_020822.3(KCNT1):c.1572G>A (p.Pro524=) rs113333501
NM_020822.3(KCNT1):c.1612C>T (p.Arg538Cys) rs774588571
NM_020822.3(KCNT1):c.1619+6T>A rs1328836350
NM_020822.3(KCNT1):c.1637C>T (p.Pro546Leu) rs770986306
NM_020822.3(KCNT1):c.1645T>G (p.Trp549Gly) rs1564370162
NM_020822.3(KCNT1):c.1652G>A (p.Arg551His)
NM_020822.3(KCNT1):c.1672G>T (p.Gly558Cys) rs1564370223
NM_020822.3(KCNT1):c.1694G>A (p.Arg565His) rs769855266
NM_020822.3(KCNT1):c.1698_1699delinsTA (p.Met566_Gly567delinsIleSer) rs1554774874
NM_020822.3(KCNT1):c.1700G>T (p.Gly567Val) rs781375160
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His) rs575162600
NM_020822.3(KCNT1):c.1748C>G (p.Ala583Gly) rs1554774904
NM_020822.3(KCNT1):c.1834C>T (p.Pro612Ser)
NM_020822.3(KCNT1):c.1898C>T (p.Ser633Leu) rs377750450
NM_020822.3(KCNT1):c.191T>G (p.Leu64Trp) rs1564314603
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp) rs532620254
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln) rs141281093
NM_020822.3(KCNT1):c.1938G>T (p.Arg646Ser) rs753543470
NM_020822.3(KCNT1):c.1952A>G (p.Gln651Arg)
NM_020822.3(KCNT1):c.1970C>T (p.Pro657Leu)
NM_020822.3(KCNT1):c.199C>T (p.Arg67Cys) rs1060503698
NM_020822.3(KCNT1):c.2020A>G (p.Met674Val) rs753401695
NM_020822.3(KCNT1):c.2039A>G (p.Glu680Gly) rs1207174167
NM_020822.3(KCNT1):c.2044C>T (p.Arg682Trp)
NM_020822.3(KCNT1):c.2045G>A (p.Arg682Gln) rs1188425438
NM_020822.3(KCNT1):c.2061_2066del (p.Gly691_Gly692del) rs754629346
NM_020822.3(KCNT1):c.2062G>A (p.Gly688Ser)
NM_020822.3(KCNT1):c.2096C>T (p.Thr699Met)
NM_020822.3(KCNT1):c.2098G>C (p.Glu700Gln) rs1554775570
NM_020822.3(KCNT1):c.2104G>A (p.Gly702Ser) rs550447485
NM_020822.3(KCNT1):c.2119C>T (p.Arg707Trp) rs568144711
NM_020822.3(KCNT1):c.211C>T (p.Arg71Trp)
NM_020822.3(KCNT1):c.2170_2184dup (p.Pro724_Leu728dup) rs757605635
NM_020822.3(KCNT1):c.2188G>A (p.Asp730Asn)
NM_020822.3(KCNT1):c.2191C>A (p.Gln731Lys) rs1437258889
NM_020822.3(KCNT1):c.2221G>A (p.Asp741Asn) rs375403065
NM_020822.3(KCNT1):c.2270C>T (p.Ser757Leu)
NM_020822.3(KCNT1):c.2329_2331TGC[1] (p.Cys778del) rs1390654782
NM_020822.3(KCNT1):c.240C>G (p.Phe80Leu) rs1554763398
NM_020822.3(KCNT1):c.2435A>G (p.Asn812Ser) rs1564380461
NM_020822.3(KCNT1):c.247G>C (p.Asp83His)
NM_020822.3(KCNT1):c.2503G>A (p.Val835Met)
NM_020822.3(KCNT1):c.2522+3G>A
NM_020822.3(KCNT1):c.2527G>C (p.Asp843His) rs376758763
NM_020822.3(KCNT1):c.2585C>G (p.Ser862Cys) rs1564381972
NM_020822.3(KCNT1):c.2595-9C>T rs369966222
NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys) rs376757326
NM_020822.3(KCNT1):c.2695G>A (p.Ala899Thr) rs778647834
NM_020822.3(KCNT1):c.2717A>G (p.Gln906Arg)
NM_020822.3(KCNT1):c.2757G>A (p.Thr919=) rs775752475
NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile) rs886044717
NM_020822.3(KCNT1):c.2797C>T (p.Arg933Cys) rs150395210
NM_020822.3(KCNT1):c.2848C>T (p.Arg950Ter) rs1276883403
NM_020822.3(KCNT1):c.2869G>T (p.Ala957Ser) rs1277322108
NM_020822.3(KCNT1):c.2888C>T (p.Pro963Leu)
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr) rs1424788778
NM_020822.3(KCNT1):c.2903G>A (p.Arg968His) rs1325608473
NM_020822.3(KCNT1):c.2950G>A (p.Val984Met)
NM_020822.3(KCNT1):c.2977C>T (p.Arg993Trp) rs368252006
NM_020822.3(KCNT1):c.3012G>A (p.Ser1004=)
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His) rs373365707
NM_020822.3(KCNT1):c.3078C>G (p.Phe1026Leu)
NM_020822.3(KCNT1):c.3100G>A (p.Ala1034Thr) rs779961735
NM_020822.3(KCNT1):c.3124C>T (p.Arg1042Trp)
NM_020822.3(KCNT1):c.3125G>A (p.Arg1042Gln) rs763578184
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu)
NM_020822.3(KCNT1):c.3163G>A (p.Asp1055Asn) rs537379253
NM_020822.3(KCNT1):c.3172G>A (p.Ala1058Thr) rs1564392375
NM_020822.3(KCNT1):c.3185T>C (p.Ile1062Thr)
NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met)
NM_020822.3(KCNT1):c.3205T>A (p.Cys1069Ser)
NM_020822.3(KCNT1):c.3218G>C (p.Arg1073Pro)
NM_020822.3(KCNT1):c.3244C>G (p.Arg1082Gly) rs776232246
NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys)
NM_020822.3(KCNT1):c.3247G>C (p.Ala1083Pro) rs917893164
NM_020822.3(KCNT1):c.3252C>T (p.Gly1084=)
NM_020822.3(KCNT1):c.3275G>A (p.Arg1092His) rs369576806
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met) rs373041291
NM_020822.3(KCNT1):c.3286G>A (p.Gly1096Ser)
NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser) rs199779214
NM_020822.3(KCNT1):c.3298G>A (p.Ala1100Thr) rs769422518
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu)
NM_020822.3(KCNT1):c.3310C>G (p.Leu1104Val)
NM_020822.3(KCNT1):c.3326G>A (p.Ser1109Asn)
NM_020822.3(KCNT1):c.3341G>A (p.Arg1114Gln) rs758311066
NM_020822.3(KCNT1):c.3371C>T (p.Ala1124Val) rs1381344367
NM_020822.3(KCNT1):c.3376C>T (p.Arg1126Trp)
NM_020822.3(KCNT1):c.3380C>T (p.Ala1127Val) rs774589071
NM_020822.3(KCNT1):c.338T>A (p.Leu113Gln)
NM_020822.3(KCNT1):c.3425G>A (p.Arg1142Gln) rs773520283
NM_020822.3(KCNT1):c.3428G>A (p.Arg1143His) rs1182743416
NM_020822.3(KCNT1):c.3460A>C (p.Lys1154Gln)
NM_020822.3(KCNT1):c.3464A>C (p.Asn1155Thr) rs1283268556
NM_020822.3(KCNT1):c.3488C>T (p.Pro1163Leu)
NM_020822.3(KCNT1):c.3588-3C>T rs1222157071
NM_020822.3(KCNT1):c.3598C>T (p.Arg1200Cys) rs372028322
NM_020822.3(KCNT1):c.3608C>A (p.Pro1203His) rs762025166
NM_020822.3(KCNT1):c.3619G>A (p.Val1207Met)
NM_020822.3(KCNT1):c.3622G>A (p.Ala1208Thr) rs1564402008
NM_020822.3(KCNT1):c.3632C>G (p.Ser1211Cys) rs752729337
NM_020822.3(KCNT1):c.3634C>A (p.Gln1212Lys) rs1554782444
NM_020822.3(KCNT1):c.3671C>T (p.Ser1224Phe) rs769083534
NM_020822.3(KCNT1):c.3679C>T (p.Pro1227Ser) rs779262121
NM_020822.3(KCNT1):c.3688C>T (p.Arg1230Cys)
NM_020822.3(KCNT1):c.3689G>A (p.Arg1230His) rs776538404
NM_020822.3(KCNT1):c.3691G>A (p.Asp1231Asn) rs146193090
NM_020822.3(KCNT1):c.3708A>C (p.Ter1236Cys) rs1459930316
NM_020822.3(KCNT1):c.385C>A (p.Leu129Ile) rs1402206752
NM_020822.3(KCNT1):c.38T>C (p.Val13Ala) rs764111643
NM_020822.3(KCNT1):c.398G>A (p.Arg133His)
NM_020822.3(KCNT1):c.400G>A (p.Val134Ile) rs766663683
NM_020822.3(KCNT1):c.417G>A (p.Pro139=) rs542441332
NM_020822.3(KCNT1):c.47A>T (p.Glu16Val) rs755980218
NM_020822.3(KCNT1):c.50C>T (p.Ala17Val) rs377687237
NM_020822.3(KCNT1):c.57C>T (p.Gly19=) rs1245480933
NM_020822.3(KCNT1):c.600+5G>A
NM_020822.3(KCNT1):c.626G>A (p.Arg209His)
NM_020822.3(KCNT1):c.62G>A (p.Gly21Asp) rs368870705
NM_020822.3(KCNT1):c.62G>T (p.Gly21Val)
NM_020822.3(KCNT1):c.65A>G (p.Tyr22Cys)
NM_020822.3(KCNT1):c.730C>T (p.Leu244=)
NM_020822.3(KCNT1):c.754A>T (p.Met252Leu) rs755782470
NM_020822.3(KCNT1):c.776C>T (p.Ala259Val) rs776559951
NM_020822.3(KCNT1):c.82_85delinsC (p.Glu28_Phe29delinsLeu) rs1554760875
NM_020822.3(KCNT1):c.851C>T (p.Thr284Met) rs376583438
NM_020822.3(KCNT1):c.852G>A (p.Thr284=)
NM_020822.3(KCNT1):c.85T>C (p.Phe29Leu) rs1406826181
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) rs146070496
NM_020822.3(KCNT1):c.909_910delinsGA (p.Ser304Thr) rs1060503697
NM_020822.3(KCNT1):c.928G>A (p.Val310Ile) rs149436191
NM_020822.3(KCNT1):c.962C>T (p.Thr321Met)
NM_020822.3(KCNT1):c.968A>G (p.Lys323Arg)
NM_025219.3(DNAJC5):c.14G>A (p.Arg5Lys)
NM_025219.3(DNAJC5):c.161C>T (p.Ala54Val)
NM_025219.3(DNAJC5):c.188C>T (p.Ala63Val) rs139312819
NM_025219.3(DNAJC5):c.204G>A (p.Thr68=) rs1002205118
NM_025219.3(DNAJC5):c.238G>A (p.Gly80Ser) rs1555879996
NM_025219.3(DNAJC5):c.242C>T (p.Ser81Leu)
NM_025219.3(DNAJC5):c.321+8C>T rs773607766
NM_025219.3(DNAJC5):c.322G>T (p.Ala108Ser) rs1322303376
NM_025219.3(DNAJC5):c.491G>A (p.Arg164Lys) rs762961919
NM_025219.3(DNAJC5):c.509C>T (p.Pro170Leu)
NM_025219.3(DNAJC5):c.532G>A (p.Ala178Thr)
NM_025219.3(DNAJC5):c.76G>A (p.Ala26Thr)
NM_032737.3(LMNB2):c.1822-12_1822-5dup rs542821471
NM_032737.4(LMNB2):c.101C>T (p.Thr34Met)
NM_032737.4(LMNB2):c.1030G>A (p.Gly344Arg)
NM_032737.4(LMNB2):c.1049G>A (p.Arg350Gln)
NM_032737.4(LMNB2):c.1057C>A (p.Leu353Met)
NM_032737.4(LMNB2):c.1082C>T (p.Thr361Met)
NM_032737.4(LMNB2):c.1091G>A (p.Arg364Gln) rs767615829
NM_032737.4(LMNB2):c.1096G>A (p.Val366Met)
NM_032737.4(LMNB2):c.1198G>T (p.Glu400Ter) rs1555683015
NM_032737.4(LMNB2):c.11C>T (p.Pro4Leu) rs1255813804
NM_032737.4(LMNB2):c.1202+4C>G
NM_032737.4(LMNB2):c.1221C>A (p.Ser407Arg) rs766553520
NM_032737.4(LMNB2):c.1231C>T (p.Arg411Cys)
NM_032737.4(LMNB2):c.1244C>T (p.Ser415Leu) rs201335788
NM_032737.4(LMNB2):c.1256C>G (p.Ser419Trp) rs368949581
NM_032737.4(LMNB2):c.1256C>T (p.Ser419Leu)
NM_032737.4(LMNB2):c.1285G>A (p.Gly429Arg)
NM_032737.4(LMNB2):c.1298G>A (p.Arg433His)
NM_032737.4(LMNB2):c.1312C>T (p.Arg438Trp) rs780728738
NM_032737.4(LMNB2):c.1351G>A (p.Val451Ile)
NM_032737.4(LMNB2):c.1378G>A (p.Gly460Ser)
NM_032737.4(LMNB2):c.1402G>A (p.Ala468Thr)
NM_032737.4(LMNB2):c.1403C>G (p.Ala468Gly) rs766297775
NM_032737.4(LMNB2):c.1467G>C (p.Lys489Asn)
NM_032737.4(LMNB2):c.1553C>T (p.Thr518Met)
NM_032737.4(LMNB2):c.1570C>T (p.Arg524Cys)
NM_032737.4(LMNB2):c.157C>T (p.Leu53Phe) rs1555684976
NM_032737.4(LMNB2):c.1681C>T (p.Arg561Cys)
NM_032737.4(LMNB2):c.1682G>T (p.Arg561Leu) rs145444042
NM_032737.4(LMNB2):c.1699G>A (p.Ala567Thr) rs760189690
NM_032737.4(LMNB2):c.16C>T (p.Pro6Ser)
NM_032737.4(LMNB2):c.1750C>T (p.Arg584Cys)
NM_032737.4(LMNB2):c.177C>A (p.His59Gln) rs1437745175
NM_032737.4(LMNB2):c.1789G>A (p.Glu597Lys)
NM_032737.4(LMNB2):c.1821+4G>A rs779811801
NM_032737.4(LMNB2):c.273C>T (p.Gly91=) rs1163719792
NM_032737.4(LMNB2):c.281C>T (p.Ala94Val)
NM_032737.4(LMNB2):c.331G>T (p.Ala111Ser)
NM_032737.4(LMNB2):c.347G>A (p.Arg116Gln) rs370820384
NM_032737.4(LMNB2):c.402C>T (p.Ser134=) rs148213507
NM_032737.4(LMNB2):c.403G>A (p.Ala135Thr)
NM_032737.4(LMNB2):c.418G>A (p.Gly140Ser) rs1279810346
NM_032737.4(LMNB2):c.428C>T (p.Thr143Met) rs375961613
NM_032737.4(LMNB2):c.440G>A (p.Gly147Asp) rs768416033
NM_032737.4(LMNB2):c.443G>A (p.Arg148His) rs779429811
NM_032737.4(LMNB2):c.457G>A (p.Glu153Lys) rs1568204139
NM_032737.4(LMNB2):c.477C>A (p.Ser159Arg) rs923000484
NM_032737.4(LMNB2):c.493G>T (p.Ala165Ser)
NM_032737.4(LMNB2):c.499C>G (p.Leu167Val)
NM_032737.4(LMNB2):c.512G>A (p.Arg171His)
NM_032737.4(LMNB2):c.514G>A (p.Gly172Ser) rs145110937
NM_032737.4(LMNB2):c.558+5G>A rs747264492
NM_032737.4(LMNB2):c.574G>T (p.Ala192Ser) rs112419003
NM_032737.4(LMNB2):c.575C>T (p.Ala192Val) rs1389587109
NM_032737.4(LMNB2):c.59C>T (p.Thr20Ile)
NM_032737.4(LMNB2):c.658G>C (p.Asp220His) rs1568203965
NM_032737.4(LMNB2):c.685-8G>A rs1284688903
NM_032737.4(LMNB2):c.691C>T (p.Arg231Trp) rs760267703
NM_032737.4(LMNB2):c.700C>T (p.Arg234Trp) rs148936043
NM_032737.4(LMNB2):c.712G>A (p.Glu238Lys)
NM_032737.4(LMNB2):c.742C>T (p.Arg248Trp)
NM_032737.4(LMNB2):c.802G>A (p.Asp268Asn)
NM_032737.4(LMNB2):c.886A>C (p.Asn296His)
NM_032737.4(LMNB2):c.910C>T (p.Arg304Cys)
NM_152778.3(MFSD8):c.1036G>A (p.Val346Ile)
NM_152778.3(MFSD8):c.1040dup (p.Trp348fs) rs1560718555
NM_152778.3(MFSD8):c.1066C>A (p.Pro356Thr)
NM_152778.3(MFSD8):c.1093C>T (p.Gln365Ter) rs904329013
NM_152778.3(MFSD8):c.1107G>C (p.Leu369Phe) rs747197852
NM_152778.3(MFSD8):c.1136T>C (p.Phe379Ser) rs191172038
NM_152778.3(MFSD8):c.115A>T (p.Ile39Phe) rs201739608
NM_152778.3(MFSD8):c.1262C>T (p.Thr421Ile) rs765587961
NM_152778.3(MFSD8):c.1278A>G (p.Ile426Met)
NM_152778.3(MFSD8):c.1322A>G (p.Tyr441Cys) rs749153763
NM_152778.3(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_152778.3(MFSD8):c.1408A>G (p.Met470Val) rs764549054
NM_152778.3(MFSD8):c.1429G>A (p.Ala477Thr) rs878855229
NM_152778.3(MFSD8):c.1445G>A (p.Arg482Gln)
NM_152778.3(MFSD8):c.1475T>C (p.Ile492Thr)
NM_152778.3(MFSD8):c.151G>T (p.Val51Leu) rs1408300356
NM_152778.3(MFSD8):c.1521T>G (p.Ile507Met)
NM_152778.3(MFSD8):c.161del (p.Ser54fs) rs1560764227
NM_152778.3(MFSD8):c.173T>C (p.Met58Thr)
NM_152778.3(MFSD8):c.18C>G (p.Asn6Lys)
NM_152778.3(MFSD8):c.218C>T (p.Thr73Ile)
NM_152778.3(MFSD8):c.268G>C (p.Ala90Pro) rs1553950970
NM_152778.3(MFSD8):c.291G>C (p.Trp97Cys) rs796052749
NM_152778.3(MFSD8):c.316C>T (p.Pro106Ser) rs757793193
NM_152778.3(MFSD8):c.32A>G (p.Glu11Gly)
NM_152778.3(MFSD8):c.343G>A (p.Val115Met) rs183450731
NM_152778.3(MFSD8):c.362A>G (p.Tyr121Cys) rs118203978
NM_152778.3(MFSD8):c.373C>T (p.His125Tyr) rs1560754109
NM_152778.3(MFSD8):c.37C>T (p.Leu13Phe)
NM_152778.3(MFSD8):c.401A>G (p.Tyr134Cys) rs1242219330
NM_152778.3(MFSD8):c.409G>A (p.Val137Ile)
NM_152778.3(MFSD8):c.436G>A (p.Ala146Thr)
NM_152778.3(MFSD8):c.529G>A (p.Ala177Thr) rs1560751131
NM_152778.3(MFSD8):c.576C>G (p.Phe192Leu)
NM_152778.3(MFSD8):c.592G>A (p.Val198Met) rs377029630
NM_152778.3(MFSD8):c.5C>T (p.Ala2Val) rs867524398
NM_152778.3(MFSD8):c.63A>C (p.Arg21Ser)
NM_152778.3(MFSD8):c.656T>C (p.Phe219Ser) rs112734134
NM_152778.3(MFSD8):c.677T>C (p.Ile226Thr) rs200591471
NM_152778.3(MFSD8):c.689C>T (p.Ala230Val) rs375681665
NM_152778.3(MFSD8):c.699-5T>G
NM_152778.3(MFSD8):c.706C>T (p.Arg236Cys) rs758002981
NM_152778.3(MFSD8):c.707G>A (p.Arg236His)
NM_152778.3(MFSD8):c.776T>A (p.Val259Asp) rs1553947509
NM_152778.3(MFSD8):c.809T>C (p.Val270Ala) rs200284184
NM_152778.3(MFSD8):c.832G>A (p.Val278Met) rs796052743
NM_152778.3(MFSD8):c.863C>T (p.Thr288Ile) rs755384900
NM_152778.3(MFSD8):c.886G>A (p.Asp296Asn) rs147295085
NM_152778.3(MFSD8):c.934A>G (p.Ile312Val) rs77098161
NM_152778.3(MFSD8):c.935T>C (p.Ile312Thr) rs556875684
NM_152778.3(MFSD8):c.961G>A (p.Val321Ile) rs76506918
NM_152778.3(MFSD8):c.998+4A>G rs796052745
NM_152778.3(MFSD8):c.999G>C (p.Lys333Asn) rs1057520312
NM_153026.3(PRICKLE1):c.*1044C>T rs543795157
NM_153026.3(PRICKLE1):c.*1047C>T rs11181513
NM_153026.3(PRICKLE1):c.*1218G>A rs886049371
NM_153026.3(PRICKLE1):c.*1292T>C rs886049370
NM_153026.3(PRICKLE1):c.*142G>A rs886049374
NM_153026.3(PRICKLE1):c.*233C>T rs886049373
NM_153026.3(PRICKLE1):c.*430C>G rs141738298
NM_153026.3(PRICKLE1):c.*46G>C rs147122337
NM_153026.3(PRICKLE1):c.*546A>C rs767986403
NM_153026.3(PRICKLE1):c.*552del rs68074167
NM_153026.3(PRICKLE1):c.*594_*595del rs769616581
NM_153026.3(PRICKLE1):c.*614G>A rs886049372
NM_153026.3(PRICKLE1):c.*70G>A rs759888600
NM_153026.3(PRICKLE1):c.*715G>T rs147942021
NM_153026.3(PRICKLE1):c.*897G>A rs368596743
NM_153026.3(PRICKLE1):c.*983C>A rs73126459
NM_153026.3(PRICKLE1):c.-142G>A rs886049377
NM_153026.3(PRICKLE1):c.-204G>A rs548377394
NM_153026.3(PRICKLE1):c.-213G>C rs557557453
NM_153026.3(PRICKLE1):c.-238C>G rs886049378
NM_153026.3(PRICKLE1):c.-246G>A rs886049379
NM_153026.3(PRICKLE1):c.-279_-277dup rs886049380
NM_153026.3(PRICKLE1):c.-287C>G rs886049381
NM_153026.3(PRICKLE1):c.-33G>A rs377567620
NM_153026.3(PRICKLE1):c.-40G>A rs370363439
NM_153026.3(PRICKLE1):c.1004G>A (p.Arg335Gln) rs757911190
NM_153026.3(PRICKLE1):c.1022G>A (p.Arg341Gln)
NM_153026.3(PRICKLE1):c.1072T>G (p.Tyr358Asp) rs886049376
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650
NM_153026.3(PRICKLE1):c.1145G>A (p.Arg382Lys) rs748636455
NM_153026.3(PRICKLE1):c.1222T>C (p.Trp408Arg) rs376384105
NM_153026.3(PRICKLE1):c.1225G>A (p.Ala409Thr) rs774422189
NM_153026.3(PRICKLE1):c.1247C>T (p.Thr416Met) rs151332996
NM_153026.3(PRICKLE1):c.1255C>T (p.Leu419Phe)
NM_153026.3(PRICKLE1):c.1299T>G (p.Asn433Lys) rs779594296
NM_153026.3(PRICKLE1):c.132G>A (p.Gln44=) rs377668062
NM_153026.3(PRICKLE1):c.1360G>A (p.Glu454Lys) rs748454609
NM_153026.3(PRICKLE1):c.139del (p.Leu47fs) rs1555230922
NM_153026.3(PRICKLE1):c.1412T>C (p.Met471Thr)
NM_153026.3(PRICKLE1):c.1413_1414delinsTC (p.Met471_Tyr472delinsIleHis) rs1060502985
NM_153026.3(PRICKLE1):c.1435G>A (p.Gly479Arg) rs570770626
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=) rs116197349
NM_153026.3(PRICKLE1):c.1547G>C (p.Trp516Ser) rs139901494
NM_153026.3(PRICKLE1):c.1600C>T (p.Arg534Trp) rs936545109
NM_153026.3(PRICKLE1):c.1601G>A (p.Arg534Gln) rs756192425
NM_153026.3(PRICKLE1):c.1607C>T (p.Ser536Leu) rs150766064
NM_153026.3(PRICKLE1):c.1609A>G (p.Met537Val) rs1437950772
NM_153026.3(PRICKLE1):c.1621G>T (p.Ala541Ser) rs763169354
NM_153026.3(PRICKLE1):c.1639+15G>T rs778854960
NM_153026.3(PRICKLE1):c.1639+3A>G rs550752320
NM_153026.3(PRICKLE1):c.1639+5G>A rs201450953
NM_153026.3(PRICKLE1):c.1648G>A (p.Val550Met) rs760050261
NM_153026.3(PRICKLE1):c.1655G>A (p.Gly552Glu) rs1055556905
NM_153026.3(PRICKLE1):c.1676C>T (p.Ser559Leu) rs771584708
NM_153026.3(PRICKLE1):c.1771A>G (p.Ser591Gly)
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=) rs144843013
NM_153026.3(PRICKLE1):c.1888C>G (p.Gln630Glu) rs200171609
NM_153026.3(PRICKLE1):c.2012A>T (p.His671Leu) rs1555229335
NM_153026.3(PRICKLE1):c.206T>C (p.Ile69Thr)
NM_153026.3(PRICKLE1):c.2089C>T (p.Pro697Ser) rs781672373
NM_153026.3(PRICKLE1):c.2097C>A (p.Asp699Glu) rs1555229289
NM_153026.3(PRICKLE1):c.2105G>A (p.Arg702Gln) rs369790443
NM_153026.3(PRICKLE1):c.2155C>T (p.Arg719Trp)
NM_153026.3(PRICKLE1):c.2175C>G (p.Ile725Met) rs1555229265
NM_153026.3(PRICKLE1):c.2212A>G (p.Thr738Ala) rs886049375
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760
NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=) rs727504104
NM_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys) rs145860632
NM_153026.3(PRICKLE1):c.2272_2274GAT[2] (p.Asp760del) rs557205452
NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=) rs35854729
NM_153026.3(PRICKLE1):c.2316G>A (p.Ser772=) rs143240342
NM_153026.3(PRICKLE1):c.2324A>G (p.Glu775Gly) rs1239945627
NM_153026.3(PRICKLE1):c.2380T>C (p.Tyr794His)
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495
NM_153026.3(PRICKLE1):c.2431G>A (p.Gly811Ser) rs751446088
NM_153026.3(PRICKLE1):c.2473G>A (p.Gly825Ser) rs1555229171
NM_153026.3(PRICKLE1):c.25A>G (p.Met9Val) rs566073131
NM_153026.3(PRICKLE1):c.391T>G (p.Leu131Val) rs35731866
NM_153026.3(PRICKLE1):c.400A>C (p.Asn134His) rs200558941
NM_153026.3(PRICKLE1):c.424G>A (p.Ala142Thr) rs1060502984
NM_153026.3(PRICKLE1):c.434C>T (p.Ala145Val) rs765119777
NM_153026.3(PRICKLE1):c.435G>A (p.Ala145=) rs146650383
NM_153026.3(PRICKLE1):c.445G>A (p.Val149Met)
NM_153026.3(PRICKLE1):c.448T>C (p.Cys150Arg) rs1566084587
NM_153026.3(PRICKLE1):c.47G>A (p.Cys16Tyr) rs746768839
NM_153026.3(PRICKLE1):c.509A>G (p.Tyr170Cys)
NM_153026.3(PRICKLE1):c.588+5A>C
NM_153026.3(PRICKLE1):c.625C>T (p.Arg209Cys) rs777944504
NM_153026.3(PRICKLE1):c.649T>C (p.Cys217Arg) rs772276749
NM_153026.3(PRICKLE1):c.668C>T (p.Thr223Met) rs754218148
NM_153026.3(PRICKLE1):c.699G>T (p.Lys233Asn) rs1443820017
NM_153026.3(PRICKLE1):c.72T>G (p.Asp24Glu) rs1566087431
NM_153026.3(PRICKLE1):c.743C>T (p.Ala248Val) rs1566082169
NM_153026.3(PRICKLE1):c.776G>A (p.Gly259Asp) rs1555230194
NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met) rs559947948
NM_153026.3(PRICKLE1):c.853A>C (p.Lys285Gln) rs1555230175
NM_153026.3(PRICKLE1):c.914C>T (p.Thr305Met)
NM_153026.3(PRICKLE1):c.954C>T (p.Ser318=) rs139421676
NM_153026.3(PRICKLE1):c.992G>A (p.Arg331Gln) rs778192552
NM_153033.4(KCTD7):c.*1123A>G rs886062418
NM_153033.4(KCTD7):c.*1293A>G rs886062419
NM_153033.4(KCTD7):c.*1581C>G rs570131389
NM_153033.4(KCTD7):c.*1587C>T rs190087991
NM_153033.4(KCTD7):c.*1619A>G rs115778754
NM_153033.4(KCTD7):c.*1624T>C rs765576236
NM_153033.4(KCTD7):c.*1740G>A rs886062420
NM_153033.4(KCTD7):c.*1810C>T rs886062421
NM_153033.4(KCTD7):c.*1911C>G rs565110569
NM_153033.4(KCTD7):c.*1926G>A rs117267079
NM_153033.4(KCTD7):c.*1960T>C rs752605506
NM_153033.4(KCTD7):c.*2009A>G rs184129807
NM_153033.4(KCTD7):c.*2175C>A rs369221941
NM_153033.4(KCTD7):c.*221G>T rs151151235
NM_153033.4(KCTD7):c.*2223_*2226dup rs886062422
NM_153033.4(KCTD7):c.*2322G>A rs886062423
NM_153033.4(KCTD7):c.*2692A>G rs573138370
NM_153033.4(KCTD7):c.*2746G>C rs886062424
NM_153033.4(KCTD7):c.*2806G>A rs886062425
NM_153033.4(KCTD7):c.*2868C>T rs886062426
NM_153033.4(KCTD7):c.*3508G>T rs573049844
NM_153033.4(KCTD7):c.*354C>G rs540871291
NM_153033.4(KCTD7):c.*3825T>A rs768325782
NM_153033.4(KCTD7):c.*3836T>G rs370135424
NM_153033.4(KCTD7):c.*3961C>T rs144713969
NM_153033.4(KCTD7):c.*3991G>C rs147205609
NM_153033.4(KCTD7):c.*55C>T rs886062414
NM_153033.4(KCTD7):c.*668T>G rs765653009
NM_153033.4(KCTD7):c.*837A>G rs886062415
NM_153033.4(KCTD7):c.*860_*862CCT[1] rs886062416
NM_153033.4(KCTD7):c.*880T>C rs117143942
NM_153033.4(KCTD7):c.*892C>T rs886062417
NM_153033.4(KCTD7):c.-145C>G rs886062409
NM_153033.4(KCTD7):c.-155G>C rs886062408
NM_153033.4(KCTD7):c.-170G>T rs191169882
NM_153033.4(KCTD7):c.-181T>G rs886062407
NM_153033.4(KCTD7):c.-46C>G rs886062412
NM_153033.4(KCTD7):c.-49C>T rs374505432
NM_153033.4(KCTD7):c.-69C>T rs536230559
NM_153033.4(KCTD7):c.-87A>C rs886062411
NM_153033.4(KCTD7):c.-94C>T rs886062410
NM_153033.4(KCTD7):c.104_115del (p.Ala35_Ala38del) rs778647590
NM_153033.4(KCTD7):c.144+4C>A
NM_153033.4(KCTD7):c.14C>G (p.Thr5Arg) rs1346070646
NM_153033.4(KCTD7):c.172G>A (p.Gly58Arg) rs750033880
NM_153033.4(KCTD7):c.18G>C (p.Gly6=) rs886062413
NM_153033.4(KCTD7):c.190A>G (p.Thr64Ala) rs201296399
NM_153033.4(KCTD7):c.193C>T (p.Arg65Cys) rs200321023
NM_153033.4(KCTD7):c.22G>A (p.Glu8Lys)
NM_153033.4(KCTD7):c.238A>G (p.Met80Val) rs1554397798
NM_153033.4(KCTD7):c.250C>T (p.Arg84Trp) rs754476100
NM_153033.4(KCTD7):c.256T>C (p.Tyr86His) rs149255570
NM_153033.4(KCTD7):c.273C>T (p.Ser91=) rs139585796
NM_153033.4(KCTD7):c.302G>A (p.Gly101Asp) rs1554397831
NM_153033.4(KCTD7):c.361C>T (p.Arg121Cys) rs199604642
NM_153033.4(KCTD7):c.362G>A (p.Arg121His) rs199624315
NM_153033.4(KCTD7):c.362G>T (p.Arg121Leu) rs199624315
NM_153033.4(KCTD7):c.369A>C (p.Arg123=) rs753658170
NM_153033.4(KCTD7):c.384G>A (p.Glu128=) rs145238250
NM_153033.4(KCTD7):c.398C>T (p.Ala133Val)
NM_153033.4(KCTD7):c.400A>G (p.Ile134Val)
NM_153033.4(KCTD7):c.403G>A (p.Gly135Arg) rs781725855
NM_153033.4(KCTD7):c.422_424dup (p.Glu142_Asn143insVal) rs747385800
NM_153033.4(KCTD7):c.440T>C (p.Leu147Pro)
NM_153033.4(KCTD7):c.458G>A (p.Arg153His)
NM_153033.4(KCTD7):c.506G>A (p.Arg169Gln) rs745917176
NM_153033.4(KCTD7):c.636T>A (p.Phe212Leu)
NM_153033.4(KCTD7):c.677G>C (p.Cys226Ser) rs1554300943
NM_153033.4(KCTD7):c.68C>T (p.Ala23Val) rs745360140
NM_153033.4(KCTD7):c.710C>G (p.Ala237Gly)
NM_153033.4(KCTD7):c.749C>T (p.Thr250Met) rs760837610
NM_153033.4(KCTD7):c.769C>G (p.Leu257Val) rs1554300955
NM_153033.4(KCTD7):c.76G>T (p.Asp26Tyr) rs371919994
NM_153033.4(KCTD7):c.790A>C (p.Ile264Leu) rs763830869
NM_153033.4(KCTD7):c.796G>T (p.Val266Leu) rs1297799073
NM_198586.3(NHLRC1):c.*248C>A rs182779486
NM_198586.3(NHLRC1):c.*248C>G rs182779486
NM_198586.3(NHLRC1):c.*320G>A rs79197160
NM_198586.3(NHLRC1):c.*326C>T rs369668171
NM_198586.3(NHLRC1):c.*332G>T rs140122442
NM_198586.3(NHLRC1):c.*344A>T rs147528518
NM_198586.3(NHLRC1):c.*358_*361del rs550375620
NM_198586.3(NHLRC1):c.*406A>G rs886061251
NM_198586.3(NHLRC1):c.*442G>C rs555214908
NM_198586.3(NHLRC1):c.*55G>C rs11966789
NM_198586.3(NHLRC1):c.*61C>A rs886061252
NM_198586.3(NHLRC1):c.*662C>G rs150615281
NM_198586.3(NHLRC1):c.*720T>C rs141863990
NM_198586.3(NHLRC1):c.*797A>G rs886061250
NM_198586.3(NHLRC1):c.*837G>A rs536257194
NM_198586.3(NHLRC1):c.*875T>A rs72839174
NM_198586.3(NHLRC1):c.*875T>C rs72839174
NM_198586.3(NHLRC1):c.1013C>T (p.Thr338Ile) rs1388505858
NM_198586.3(NHLRC1):c.103C>G (p.His35Asp) rs752045674
NM_198586.3(NHLRC1):c.1053G>C (p.Glu351Asp) rs377395116
NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp) rs372993582
NM_198586.3(NHLRC1):c.107G>C (p.Arg36Pro)
NM_198586.3(NHLRC1):c.1090T>A (p.Ser364Thr) rs370044232
NM_198586.3(NHLRC1):c.1142A>G (p.Asp381Gly) rs200201752
NM_198586.3(NHLRC1):c.1165G>T (p.Val389Phe)
NM_198586.3(NHLRC1):c.184C>T (p.Arg62Cys) rs761458140
NM_198586.3(NHLRC1):c.215G>A (p.Arg72Lys)
NM_198586.3(NHLRC1):c.269T>C (p.Ile90Thr)
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=) rs187783545
NM_198586.3(NHLRC1):c.307G>T (p.Ala103Ser) rs568131096
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His) rs750465793
NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr) rs886061254
NM_198586.3(NHLRC1):c.406C>T (p.Pro136Ser) rs1561882043
NM_198586.3(NHLRC1):c.418C>T (p.Arg140Cys) rs148035405
NM_198586.3(NHLRC1):c.470G>A (p.Gly157Glu)
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg) rs200595273
NM_198586.3(NHLRC1):c.485A>C (p.His162Pro)
NM_198586.3(NHLRC1):c.494G>A (p.Gly165Glu) rs1554136449
NM_198586.3(NHLRC1):c.541A>G (p.Thr181Ala) rs886061253
NM_198586.3(NHLRC1):c.551A>G (p.Asn184Ser) rs138667242
NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val)
NM_198586.3(NHLRC1):c.584A>G (p.Asp195Gly)
NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys) rs140850172
NM_198586.3(NHLRC1):c.691G>A (p.Val231Ile) rs1060503098
NM_198586.3(NHLRC1):c.713C>T (p.Ser238Phe)
NM_198586.3(NHLRC1):c.755G>A (p.Arg252Gln)
NM_198586.3(NHLRC1):c.874A>T (p.Thr292Ser)
NM_198859.3(PRICKLE2):c.[443G>A;457G>A]
NM_198859.4(PRICKLE2):c.*1114C>T rs752334583
NM_198859.4(PRICKLE2):c.*133G>A rs370569305
NM_198859.4(PRICKLE2):c.*1476A>G rs886058793
NM_198859.4(PRICKLE2):c.*1495T>C rs879297640
NM_198859.4(PRICKLE2):c.*1560C>T rs886058792
NM_198859.4(PRICKLE2):c.*1568C>T rs558482444
NM_198859.4(PRICKLE2):c.*1868G>C rs886058791
NM_198859.4(PRICKLE2):c.*1964C>T rs886058790
NM_198859.4(PRICKLE2):c.*1970T>C rs886058789
NM_198859.4(PRICKLE2):c.*1991C>T rs570616523
NM_198859.4(PRICKLE2):c.*2207C>T rs886058788
NM_198859.4(PRICKLE2):c.*2269T>C rs550841859
NM_198859.4(PRICKLE2):c.*2288C>T rs866060288
NM_198859.4(PRICKLE2):c.*2288_*2296delinsT rs386661734
NM_198859.4(PRICKLE2):c.*2782C>G rs530804190
NM_198859.4(PRICKLE2):c.*2856C>G rs886058787
NM_198859.4(PRICKLE2):c.*2909T>A rs545276442
NM_198859.4(PRICKLE2):c.*2980_*2981dup rs759645403
NM_198859.4(PRICKLE2):c.*3178G>C rs528929996
NM_198859.4(PRICKLE2):c.*3755A>G rs756531877
NM_198859.4(PRICKLE2):c.*3862C>A rs886058786
NM_198859.4(PRICKLE2):c.*3864T>C rs544825776
NM_198859.4(PRICKLE2):c.*4057G>A rs140931283
NM_198859.4(PRICKLE2):c.*4071A>G rs886058785
NM_198859.4(PRICKLE2):c.*4109C>G rs886058784
NM_198859.4(PRICKLE2):c.*4257T>C rs886058783
NM_198859.4(PRICKLE2):c.*4330A>T rs538069337
NM_198859.4(PRICKLE2):c.*4455A>G rs746249344
NM_198859.4(PRICKLE2):c.*4595T>A rs886058782
NM_198859.4(PRICKLE2):c.*469G>T rs148724634
NM_198859.4(PRICKLE2):c.*4787T>C rs886058781
NM_198859.4(PRICKLE2):c.*4861dup rs571451772
NM_198859.4(PRICKLE2):c.*4994C>T rs190966782
NM_198859.4(PRICKLE2):c.*580del rs370988517
NM_198859.4(PRICKLE2):c.*581dup rs886058797
NM_198859.4(PRICKLE2):c.*582A>T rs886058796
NM_198859.4(PRICKLE2):c.*584del rs886058795
NM_198859.4(PRICKLE2):c.*690G>A rs779719872
NM_198859.4(PRICKLE2):c.*792dup rs535354956
NM_198859.4(PRICKLE2):c.*995C>A rs886058794
NM_198859.4(PRICKLE2):c.-13C>G rs750990245
NM_198859.4(PRICKLE2):c.-271A>G rs886058802
NM_198859.4(PRICKLE2):c.-285A>T rs886058803
NM_198859.4(PRICKLE2):c.-287A>G rs867607794
NM_198859.4(PRICKLE2):c.-320A>C rs886058804
NM_198859.4(PRICKLE2):c.-363G>A rs569115082
NM_198859.4(PRICKLE2):c.-370G>A rs139238137
NM_198859.4(PRICKLE2):c.-371C>T rs886058805
NM_198859.4(PRICKLE2):c.-447C>T rs886058806
NM_198859.4(PRICKLE2):c.-559A>G rs550234814
NM_198859.4(PRICKLE2):c.-573_-571CCA[1] rs886058807
NM_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser) rs771168722
NM_198859.4(PRICKLE2):c.1091G>A (p.Arg364Gln)
NM_198859.4(PRICKLE2):c.1132A>G (p.Met378Val)
NM_198859.4(PRICKLE2):c.1169G>A (p.Arg390Gln) rs773493989
NM_198859.4(PRICKLE2):c.1184G>A (p.Arg395Lys)
NM_198859.4(PRICKLE2):c.123G>A (p.Pro41=) rs727504106
NM_198859.4(PRICKLE2):c.1317C>T (p.Pro439=) rs745530308
NM_198859.4(PRICKLE2):c.1318G>A (p.Glu440Lys)
NM_198859.4(PRICKLE2):c.1528G>A (p.Glu510Lys)
NM_198859.4(PRICKLE2):c.1532G>A (p.Gly511Glu)
NM_198859.4(PRICKLE2):c.1532G>C (p.Gly511Ala)
NM_198859.4(PRICKLE2):c.1561C>T (p.Arg521Cys)
NM_198859.4(PRICKLE2):c.1573A>G (p.Ser525Gly)
NM_198859.4(PRICKLE2):c.1590A>G (p.Thr530=) rs886058800
NM_198859.4(PRICKLE2):c.1675G>A (p.Gly559Ser) rs886058799
NM_198859.4(PRICKLE2):c.1752T>A (p.Ser584=) rs886058798
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe) rs387906989
NM_198859.4(PRICKLE2):c.1994T>C (p.Met665Thr) rs200223474
NM_198859.4(PRICKLE2):c.2030A>G (p.Asp677Gly)
NM_198859.4(PRICKLE2):c.215G>A (p.Arg72Gln) rs1559550002
NM_198859.4(PRICKLE2):c.2433C>G (p.His811Gln)
NM_198859.4(PRICKLE2):c.2455C>T (p.Pro819Ser) rs972442832
NM_198859.4(PRICKLE2):c.343C>T (p.Arg115Cys)
NM_198859.4(PRICKLE2):c.396G>T (p.Gln132His)
NM_198859.4(PRICKLE2):c.400G>A (p.Gly134Arg) rs775889804
NM_198859.4(PRICKLE2):c.423C>A (p.Asp141Glu)
NM_198859.4(PRICKLE2):c.445G>T (p.Ala149Ser) rs202025796
NM_198859.4(PRICKLE2):c.454G>A (p.Gly152Ser) rs199566606
NM_198859.4(PRICKLE2):c.461G>T (p.Cys154Phe) rs1553644844
NM_198859.4(PRICKLE2):c.481G>A (p.Val161Ile) rs773419206
NM_198859.4(PRICKLE2):c.490G>T (p.Val164Phe) rs886058801
NM_198859.4(PRICKLE2):c.527A>G (p.Tyr176Cys)
NM_198859.4(PRICKLE2):c.545A>T (p.Tyr182Phe) rs1553644782
NM_198859.4(PRICKLE2):c.581G>A (p.Arg194His) rs1553644768
NM_198859.4(PRICKLE2):c.636G>A (p.Gly212=) rs567814417
NM_198859.4(PRICKLE2):c.670G>A (p.Glu224Lys) rs1199006668
NM_198859.4(PRICKLE2):c.680C>T (p.Thr227Ile)
NM_198859.4(PRICKLE2):c.690C>T (p.Gly230=) rs144338942
NM_198859.4(PRICKLE2):c.741C>G (p.Phe247Leu)
NM_198859.4(PRICKLE2):c.973G>A (p.Ala325Thr)
Single allele

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