NM_004977.3(KCNC3):c.1771A>G (p.Ser591Gly)
|
rs549394447
|
0.00331
|
NM_001378969.1(KCND3):c.1646G>A (p.Arg549His)
|
rs35027371
|
0.00016
|
NM_198994.3(TGM6):c.1024C>T (p.Arg342Trp)
|
rs150566697
|
0.00010
|
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser)
|
rs267606941
|
0.00008
|
NM_002739.5(PRKCG):c.1381G>A (p.Ala461Thr)
|
rs749266717
|
0.00004
|
NM_002739.5(PRKCG):c.419G>A (p.Arg140Gln)
|
rs770016586
|
0.00003
|
NM_005861.4(STUB1):c.778dup (p.His260fs)
|
rs780883873
|
0.00002
|
NM_006946.4(SPTBN2):c.5066G>A (p.Arg1689His)
|
rs764884402
|
0.00002
|
NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser)
|
rs771145682
|
0.00001
|
NM_001080414.4(CCDC88C):c.1993G>A (p.Glu665Lys)
|
rs956104232
|
0.00001
|
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile)
|
rs1296629000
|
0.00001
|
NM_001378452.1(ITPR1):c.1516C>T (p.Arg506Trp)
|
rs2093873570
|
0.00001
|
NM_001378452.1(ITPR1):c.2843G>A (p.Gly948Glu)
|
rs1443276640
|
0.00001
|
NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu)
|
rs1303074743
|
0.00001
|
NM_004977.3(KCNC3):c.1223A>G (p.Asp408Gly)
|
rs2037067131
|
0.00001
|
NM_006392.4(NOP56):c.909G>A (p.Ala303=)
|
rs1295942947
|
0.00001
|
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His)
|
rs1598820860
|
0.00001
|
NM_018896.5(CACNA1G):c.481A>T (p.Ile161Phe)
|
rs368561457
|
0.00001
|
NM_198994.3(TGM6):c.1005G>A (p.Trp335Ter)
|
rs750743855
|
0.00001
|
NM_001020658.2(PUM1):c.1773del (p.Ser592fs)
|
rs1640658015
|
|
NM_001020658.2(PUM1):c.3415C>T (p.Arg1139Trp)
|
rs1557541619
|
|
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp)
|
rs1557539450
|
|
NM_001020658.2(PUM1):c.46G>T (p.Asp16Tyr)
|
rs1644321851
|
|
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg)
|
rs1057518011
|
|
NM_001114748.2(TMEM240):c.419T>A (p.Leu140Gln)
|
rs2100695149
|
|
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)
|
rs606231451
|
|
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs)
|
rs2058057299
|
|
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met)
|
rs374686479
|
|
NM_001127222.2(CACNA1A):c.1850T>C (p.Leu617Ser)
|
rs2145004155
|
|
NM_001127222.2(CACNA1A):c.1870A>T (p.Ile624Phe)
|
rs2145004096
|
|
NM_001127222.2(CACNA1A):c.2017_2034del (p.Met673_Lys678del)
|
rs2144980726
|
|
NM_001127222.2(CACNA1A):c.2099G>A (p.Gly700Glu)
|
rs2144980363
|
|
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)
|
rs764839814
|
|
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
|
|
|
NM_001127222.2(CACNA1A):c.2345G>C (p.Arg782Pro)
|
rs1233611505
|
|
NM_001127222.2(CACNA1A):c.2524_2551del (p.Glu842fs)
|
rs2144956632
|
|
NM_001127222.2(CACNA1A):c.2958_2959dup (p.Arg987fs)
|
rs1555755878
|
|
NM_001127222.2(CACNA1A):c.3948C>A (p.Asp1316Glu)
|
rs2144833336
|
|
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr)
|
rs2056767982
|
|
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)
|
rs2144773045
|
|
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)
|
rs1555745467
|
|
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn)
|
rs2056767062
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn)
|
rs1555740805
|
|
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)
|
rs1064795531
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro)
|
rs1568447650
|
|
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro)
|
rs1057519429
|
|
NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr)
|
rs2144647872
|
|
NM_001127222.2(CACNA1A):c.519C>A (p.Asp173Glu)
|
rs2144936093
|
|
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu)
|
rs1064794261
|
|
NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala)
|
rs2144622461
|
|
NM_001127222.2(CACNA1A):c.5439dup (p.Glu1814Ter)
|
rs2055612253
|
|
NM_001127222.2(CACNA1A):c.652T>C (p.Ser218Pro)
|
rs2144523407
|
|
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg)
|
rs1057522420
|
|
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)
|
rs1555773764
|
|
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn)
|
rs863224852
|
|
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala)
|
rs397509393
|
|
NM_001130823.3(DNMT1):c.1823T>G (p.Leu608Arg)
|
rs2038416963
|
|
NM_001130823.3(DNMT1):c.4298T>C (p.Met1433Thr)
|
rs1599341718
|
|
NM_001130823.3(DNMT1):c.4641G>T (p.Glu1547Asp)
|
rs2145253354
|
|
NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly)
|
rs2093873520
|
|
NM_001378452.1(ITPR1):c.1534G>A (p.Glu512Lys)
|
rs2125193560
|
|
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met)
|
rs1559718601
|
|
NM_001378452.1(ITPR1):c.4691T>C (p.Leu1564Pro)
|
rs2125272771
|
|
NM_001378452.1(ITPR1):c.5616G>A (p.Met1872Ile)
|
rs1002376493
|
|
NM_001378452.1(ITPR1):c.722G>A (p.Arg241Lys)
|
rs2125159664
|
|
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del)
|
rs1559603328
|
|
NM_001378452.1(ITPR1):c.748T>C (p.Phe250Leu)
|
rs2125159710
|
|
NM_001378452.1(ITPR1):c.755C>T (p.Thr252Ile)
|
rs2125159718
|
|
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)
|
rs1553757628
|
|
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg)
|
rs752281590
|
|
NM_001378452.1(ITPR1):c.7784G>C (p.Gly2595Ala)
|
rs869312685
|
|
NM_001378452.1(ITPR1):c.7798A>C (p.Thr2600Pro)
|
rs2106494596
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
NM_001378452.1(ITPR1):c.830G>T (p.Ser277Ile)
|
rs863224882
|
|
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu)
|
rs867628133
|
|
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg)
|
rs1057521793
|
|
NM_001378969.1(KCND3):c.1129A>G (p.Thr377Ala)
|
|
|
NM_001378969.1(KCND3):c.1138G>T (p.Gly380Trp)
|
|
|
NM_001378969.1(KCND3):c.1291C>T (p.Arg431Cys)
|
rs777183510
|
|
NM_001378969.1(KCND3):c.611C>T (p.Thr204Met)
|
rs2101997230
|
|
NM_001378969.1(KCND3):c.848C>G (p.Ser283Cys)
|
|
|
NM_001378969.1(KCND3):c.869G>A (p.Arg290Gln)
|
rs1674966041
|
|
NM_001378969.1(KCND3):c.905G>C (p.Arg302Pro)
|
rs2101995572
|
|
NM_001378969.1(KCND3):c.911C>T (p.Ser304Phe)
|
rs2101995530
|
|
NM_001378969.1(KCND3):c.983T>G (p.Leu328Arg)
|
rs2101995228
|
|
NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3])
|
rs2138219961
|
|
NM_001961.4(EEF2):c.2314G>A (p.Glu772Lys)
|
rs2145355764
|
|
NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser)
|
rs797045900
|
|
NM_002739.5(PRKCG):c.1928T>G (p.Phe643Cys)
|
rs386134172
|
|
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr)
|
rs1555806333
|
|
NM_002739.5(PRKCG):c.220C>T (p.His74Tyr)
|
rs2122976509
|
|
NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr)
|
rs1599938631
|
|
NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys)
|
rs2122988484
|
|
NM_002739.5(PRKCG):c.347A>G (p.His116Arg)
|
rs2068657131
|
|
NM_002739.5(PRKCG):c.358C>T (p.Leu120Phe)
|
rs2122988567
|
|
NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg)
|
rs386134164
|
|
NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys)
|
rs1599943097
|
|
NM_002739.5(PRKCG):c.380A>C (p.Gln127Pro)
|
rs121918515
|
|
NM_002739.5(PRKCG):c.381G>T (p.Gln127His)
|
rs973767996
|
|
NM_002739.5(PRKCG):c.394T>C (p.Ser132Pro)
|
rs2122988688
|
|
NM_002739.5(PRKCG):c.466G>A (p.Glu156Lys)
|
rs1304701232
|
|
NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp)
|
rs1471641294
|
|
NM_004115.4(FGF14):c.408+1G>A
|
|
|
NM_005861.4(STUB1):c.170C>T (p.Pro57Leu)
|
rs2151504167
|
|
NM_005861.4(STUB1):c.194A>G (p.Asn65Ser)
|
rs690016544
|
|
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)
|
rs779647632
|
|
NM_005861.4(STUB1):c.525-1G>A
|
rs2151505158
|
|
NM_005861.4(STUB1):c.646dup (p.Ser216fs)
|
rs1555475283
|
|
NM_005861.4(STUB1):c.721C>T (p.Arg241Trp)
|
rs760424025
|
|
NM_005861.4(STUB1):c.760C>G (p.Arg254Gly)
|
rs770730338
|
|
NM_005861.4(STUB1):c.807dup (p.Val270fs)
|
rs2151507049
|
|
NM_006133.3(DAGLA):c.2437_2446del (p.Leu813fs)
|
|
|
NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg)
|
rs1598832568
|
|
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)
|
rs727502823
|
|
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile)
|
rs151344513
|
|
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)
|
rs151344514
|
|
NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr)
|
rs797045221
|
|
NM_006946.4(SPTBN2):c.1052G>C (p.Arg351Pro)
|
rs541484241
|
|
NM_006946.4(SPTBN2):c.1276_1278del (p.Leu426del)
|
rs1590955348
|
|
NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr)
|
rs1554986345
|
|
NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp)
|
rs1941669517
|
|
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln)
|
rs1554986337
|
|
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro)
|
rs1554984881
|
|
NM_006946.4(SPTBN2):c.193A>C (p.Lys65Gln)
|
rs2135526204
|
|
NM_006946.4(SPTBN2):c.4358A>T (p.Asp1453Val)
|
rs1940772032
|
|
NM_006946.4(SPTBN2):c.470T>C (p.Ile157Thr)
|
rs875989881
|
|
NM_006946.4(SPTBN2):c.5974C>T (p.Gln1992Ter)
|
rs2135319250
|
|
NM_006946.4(SPTBN2):c.6230C>T (p.Ala2077Val)
|
|
|
NM_006946.4(SPTBN2):c.812C>T (p.Thr271Ile)
|
rs1941829953
|
|
NM_007289.4(MME):c.1095-2A>C
|
rs2108312675
|
|
NM_015215.4(CAMTA1):c.1521_1528del (p.Met507fs)
|
|
|
NM_015215.4(CAMTA1):c.2235C>A (p.Tyr745Ter)
|
|
|
NM_015215.4(CAMTA1):c.2452G>T (p.Glu818Ter)
|
|
|
NM_015215.4(CAMTA1):c.2460C>A (p.Cys820Ter)
|
|
|
NM_015215.4(CAMTA1):c.2685G>A (p.Trp895Ter)
|
rs2149221667
|
|
NM_015215.4(CAMTA1):c.2863C>T (p.Arg955Trp)
|
rs1135401818
|
|
NM_015215.4(CAMTA1):c.3230A>G (p.Tyr1077Cys)
|
rs863224853
|
|
NM_015215.4(CAMTA1):c.4231C>T (p.Arg1411Ter)
|
rs886041635
|
|
NM_015215.4(CAMTA1):c.438+1G>A
|
|
|
NM_015215.4(CAMTA1):c.4418G>A (p.Ser1473Asn)
|
rs776553769
|
|
NM_015215.4(CAMTA1):c.4674C>G (p.Tyr1558Ter)
|
rs2096866859
|
|
NM_015215.4(CAMTA1):c.4744C>T (p.Arg1582Ter)
|
rs2150160606
|
|
NM_015215.4(CAMTA1):c.4759C>T (p.Gln1587Ter)
|
rs2150160765
|
|
NM_015215.4(CAMTA1):c.4780C>T (p.Arg1594Ter)
|
rs1553280067
|
|
NM_015215.4(CAMTA1):c.800del (p.Ser267fs)
|
rs1553238311
|
|
NM_018896.5(CACNA1G):c.2549C>T (p.Ala850Val)
|
|
|
NM_018896.5(CACNA1G):c.2810C>T (p.Ser937Leu)
|
rs1250995341
|
|
NM_018896.5(CACNA1G):c.3792G>T (p.Arg1264Ser)
|
rs200024646
|
|
NM_018896.5(CACNA1G):c.3835G>A (p.Asp1279Asn)
|
rs2145795264
|
|
NM_018896.5(CACNA1G):c.4592T>C (p.Met1531Thr)
|
|
|
NM_018896.5(CACNA1G):c.4593G>A (p.Met1531Ile)
|
|
|
NM_018896.5(CACNA1G):c.4594T>C (p.Phe1532Leu)
|
rs2145968180
|
|
NM_018896.5(CACNA1G):c.5960_5961delinsAC (p.Thr1987Asn)
|
rs2146373286
|
|
NM_018896.5(CACNA1G):c.632T>C (p.Leu211Pro)
|
rs2039524843
|
|
NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr)
|
rs1554162301
|
|
NM_024818.6(UBA5):c.542G>A (p.Cys181Tyr)
|
|
|
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter)
|
rs374052333
|
|
NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr)
|
rs1135401822
|
|
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245
|
|
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala)
|
rs1599705281
|
|
NM_152296.5(ATP1A3):c.2552A>G (p.Gln851Arg)
|
rs2145946065
|
|
NM_152296.5(ATP1A3):c.265G>T (p.Gly89Cys)
|
|
|
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp)
|
rs398122887
|
|
NM_152296.5(ATP1A3):c.460A>G (p.Met154Val)
|
rs1135401821
|
|
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser)
|
rs864309572
|
|
NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp)
|
rs863224847
|
|
NM_173500.4(TTBK2):c.1675del (p.Gln559fs)
|
rs2140757755
|
|
NM_173500.4(TTBK2):c.239T>A (p.Phe80Tyr)
|
rs778218227
|
|
NM_173500.4(TTBK2):c.322C>T (p.Gln108Ter)
|
rs2140986045
|
|
NM_173500.4(TTBK2):c.3466C>T (p.Arg1156Ter)
|
rs770444240
|
|
NM_198994.2(TGM6):c.425_435del11
|
rs1222726216
|
|
Single allele
|
|
|