NM_000815.5(GABRD):c.69-19G>A
|
rs2376805
|
0.81443
|
NM_000815.5(GABRD):c.330T>C (p.Gly110=)
|
rs2229110
|
0.66530
|
NM_018723.4(RBFOX1):c.-64+166491C>A
|
rs7187508
|
0.62707
|
NM_001350451.2(RBFOX3):c.622+6A>G
|
rs58352742
|
0.42513
|
NM_001350451.2(RBFOX3):c.568+17C>T
|
rs11651975
|
0.26012
|
NM_001350451.2(RBFOX3):c.66C>T (p.Tyr22=)
|
rs80198744
|
0.18638
|
NM_000815.5(GABRD):c.1060-14C>T
|
rs28431879
|
0.11669
|
NM_000815.5(GABRD):c.816C>T (p.Ser272=)
|
rs28408173
|
0.11662
|
NM_018723.4(RBFOX1):c.931-19A>G
|
rs2302213
|
0.10758
|
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=)
|
rs1805028
|
0.05818
|
NM_000726.5(CACNB4):c.762T>A (p.Ile254=)
|
rs61736804
|
0.05586
|
NM_018723.4(RBFOX1):c.126G>A (p.Thr42=)
|
rs17143930
|
0.03708
|
NM_000815.5(GABRD):c.1104C>T (p.Ala368=)
|
rs28398772
|
0.02739
|
NM_000815.5(GABRD):c.659G>A (p.Arg220His)
|
rs41307846
|
0.01721
|
NM_018723.4(RBFOX1):c.1071+3G>A
|
rs79369633
|
0.01704
|
NM_000726.5(CACNB4):c.1116+18T>C
|
rs115324887
|
0.01581
|
NM_018723.4(RBFOX1):c.333A>G (p.Glu111=)
|
rs140174146
|
0.00959
|
NM_000815.5(GABRD):c.1202C>T (p.Thr401Met)
|
rs116604393
|
0.00685
|
NM_000726.5(CACNB4):c.1303-3T>C
|
rs143442080
|
0.00617
|
NM_001350451.2(RBFOX3):c.998+9G>T
|
rs79080598
|
0.00519
|
NM_000815.5(GABRD):c.414G>A (p.Thr138=)
|
rs77892827
|
0.00480
|
NM_018723.4(RBFOX1):c.137C>A (p.Pro46His)
|
rs113298071
|
0.00341
|
NM_001350451.2(RBFOX3):c.360+16C>T
|
rs550827396
|
0.00312
|
NM_000815.5(GABRD):c.405C>T (p.His135=)
|
rs61742636
|
0.00262
|
NM_001350451.2(RBFOX3):c.321C>T (p.Pro107=)
|
rs150282906
|
0.00254
|
NM_000726.5(CACNB4):c.655A>G (p.Met219Val)
|
rs201870832
|
0.00239
|
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)
|
rs200662010
|
0.00201
|
NM_000815.5(GABRD):c.1002C>T (p.Asn334=)
|
rs41315330
|
0.00194
|
NM_000726.5(CACNB4):c.324C>T (p.Asp108=)
|
rs147647355
|
0.00173
|
NM_018723.4(RBFOX1):c.282C>T (p.Asp94=)
|
rs145861898
|
0.00171
|
NM_001350451.2(RBFOX3):c.623-4G>T
|
rs547643968
|
0.00164
|
NM_018723.4(RBFOX1):c.1057G>A (p.Gly353Ser)
|
rs145873257
|
0.00156
|
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=)
|
rs1805029
|
0.00148
|
NM_018723.4(RBFOX1):c.175C>T (p.Pro59Ser)
|
rs137880529
|
0.00137
|
NM_000815.5(GABRD):c.470+20G>A
|
rs372728395
|
0.00124
|
NM_000815.5(GABRD):c.68+18G>A
|
rs952639317
|
0.00122
|
NM_001350451.2(RBFOX3):c.63G>A (p.Glu21=)
|
rs565537117
|
0.00122
|
NM_000815.5(GABRD):c.1107C>A (p.Gly369=)
|
rs148300882
|
0.00115
|
NM_000726.5(CACNB4):c.792T>C (p.Ser264=)
|
rs139448267
|
0.00110
|
NM_000815.5(GABRD):c.87C>T (p.Gly29=)
|
rs79685811
|
0.00109
|
NM_000815.5(GABRD):c.831C>T (p.Pro277=)
|
rs148120771
|
0.00107
|
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)
|
rs200092211
|
0.00091
|
NM_001350451.2(RBFOX3):c.39G>A (p.Pro13=)
|
rs940680437
|
0.00091
|
NM_000815.5(GABRD):c.658C>T (p.Arg220Cys)
|
rs139300921
|
0.00080
|
NM_018723.4(RBFOX1):c.677-5C>T
|
rs147023054
|
0.00077
|
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)
|
rs1805031
|
0.00074
|
NM_018723.4(RBFOX1):c.142C>T (p.Pro48Ser)
|
rs151214012
|
0.00070
|
NM_000815.5(GABRD):c.68+17C>G
|
rs868634453
|
0.00063
|
NM_001350451.2(RBFOX3):c.552G>T (p.Gly184=)
|
rs375171072
|
0.00060
|
NM_000815.5(GABRD):c.1060-7C>T
|
rs368961588
|
0.00054
|
NM_001350451.2(RBFOX3):c.103G>A (p.Gly35Ser)
|
rs375309858
|
0.00054
|
NM_000815.5(GABRD):c.577G>A (p.Val193Ile)
|
rs143115257
|
0.00052
|
NM_018723.4(RBFOX1):c.96C>G (p.Pro32=)
|
rs143695164
|
0.00052
|
NM_018723.4(RBFOX1):c.270+10C>G
|
rs113881725
|
0.00051
|
NM_001350451.2(RBFOX3):c.223-18C>T
|
rs181329485
|
0.00049
|
NM_000815.5(GABRD):c.1150C>T (p.Pro384Ser)
|
rs79386457
|
0.00048
|
NM_000815.5(GABRD):c.1060-8T>A
|
rs76809996
|
0.00045
|
NM_000815.5(GABRD):c.775G>A (p.Val259Ile)
|
rs148908731
|
0.00042
|
NM_001350451.2(RBFOX3):c.222+14C>T
|
rs373727615
|
0.00040
|
NM_001350451.2(RBFOX3):c.19C>T (p.Pro7Ser)
|
rs376060745
|
0.00038
|
NM_001350451.2(RBFOX3):c.960C>T (p.Tyr320=)
|
rs539897924
|
0.00038
|
NM_018723.4(RBFOX1):c.264C>T (p.Thr88=)
|
rs202136920
|
0.00038
|
NM_000815.5(GABRD):c.102C>T (p.Ser34=)
|
rs140855313
|
0.00036
|
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)
|
rs200789563
|
0.00036
|
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)
|
rs200792658
|
0.00036
|
NM_001350451.2(RBFOX3):c.245C>T (p.Thr82Met)
|
rs748950439
|
0.00035
|
NM_000815.5(GABRD):c.1152G>A (p.Pro384=)
|
rs77557135
|
0.00034
|
NM_000815.5(GABRD):c.470+6C>T
|
rs202225187
|
0.00034
|
NM_001350451.2(RBFOX3):c.567C>T (p.Asn189=)
|
rs369818738
|
0.00033
|
NM_001350451.2(RBFOX3):c.222+15G>A
|
rs371537468
|
0.00032
|
NM_001350451.2(RBFOX3):c.271G>A (p.Asp91Asn)
|
rs375940495
|
0.00032
|
NM_001350451.2(RBFOX3):c.22G>A (p.Ala8Thr)
|
rs1299842245
|
0.00030
|
NM_000815.5(GABRD):c.1113G>A (p.Thr371=)
|
rs755961495
|
0.00029
|
NM_001350451.2(RBFOX3):c.548C>T (p.Thr183Met)
|
rs542684395
|
0.00029
|
NM_001350451.2(RBFOX3):c.594C>T (p.Gly198=)
|
rs371067982
|
0.00029
|
NM_145893.3(RBFOX1):c.11C>G (p.Ser4Cys)
|
rs147306562
|
0.00029
|
NM_018723.4(RBFOX1):c.144C>T (p.Pro48=)
|
rs61742359
|
0.00027
|
NM_000726.5(CACNB4):c.54C>A (p.Pro18=)
|
rs373222155
|
0.00026
|
NM_000815.5(GABRD):c.264G>A (p.Thr88=)
|
rs200593470
|
0.00026
|
NM_018723.4(RBFOX1):c.70C>T (p.Pro24Ser)
|
rs148751394
|
0.00026
|
NM_000815.5(GABRD):c.177C>T (p.Ile59=)
|
rs779883280
|
0.00025
|
NM_001350451.2(RBFOX3):c.1077+17C>T
|
rs752716524
|
0.00025
|
NM_018723.4(RBFOX1):c.320C>T (p.Ser107Phe)
|
rs201282652
|
0.00025
|
NM_000815.5(GABRD):c.969C>T (p.Ala323=)
|
rs146381127
|
0.00024
|
NM_001350451.2(RBFOX3):c.347G>A (p.Arg116Gln)
|
rs199891032
|
0.00024
|
NM_018723.4(RBFOX1):c.969T>G (p.Pro323=)
|
rs1416883490
|
0.00024
|
NM_018723.4(RBFOX1):c.290C>T (p.Pro97Leu)
|
rs139251660
|
0.00022
|
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe)
|
rs542973906
|
0.00021
|
NM_001350451.2(RBFOX3):c.622+19C>A
|
rs578218089
|
0.00019
|
NM_001350451.2(RBFOX3):c.436G>C (p.Glu146Gln)
|
rs1340183543
|
0.00018
|
NM_001350451.2(RBFOX3):c.568+13G>T
|
rs200580682
|
0.00018
|
NM_145893.3(RBFOX1):c.32C>A (p.Pro11His)
|
rs145351963
|
0.00018
|
NM_000815.5(GABRD):c.1344G>A (p.Ala448=)
|
rs144369244
|
0.00017
|
NM_000815.5(GABRD):c.555C>T (p.Tyr185=)
|
rs201112862
|
0.00017
|
NM_000815.5(GABRD):c.69-17T>G
|
rs546154012
|
0.00017
|
NM_000815.5(GABRD):c.492C>T (p.Cys164=)
|
rs367776284
|
0.00016
|
NM_000815.5(GABRD):c.691+14G>A
|
rs200682047
|
0.00016
|
NM_001350451.2(RBFOX3):c.303A>G (p.Leu101=)
|
rs768508558
|
0.00016
|
NM_001350451.2(RBFOX3):c.72G>A (p.Pro24=)
|
rs776796401
|
0.00016
|
NM_001350451.2(RBFOX3):c.969C>T (p.Pro323=)
|
rs570994105
|
0.00016
|
NM_018723.4(RBFOX1):c.867G>T (p.Pro289=)
|
rs745729142
|
0.00016
|
NM_145893.3(RBFOX1):c.57G>A (p.Pro19=)
|
rs147261087
|
0.00016
|
NM_000815.5(GABRD):c.318C>T (p.Asn106=)
|
rs149832567
|
0.00015
|
NM_000815.5(GABRD):c.68+10C>T
|
rs994082959
|
0.00015
|
NM_001350451.2(RBFOX3):c.999-12G>A
|
rs918641407
|
0.00015
|
NM_001350451.2(RBFOX3):c.970G>A (p.Ala324Thr)
|
rs112978510
|
0.00014
|
NM_018723.4(RBFOX1):c.1023C>G (p.Pro341=)
|
rs143601277
|
0.00014
|
NM_000726.5(CACNB4):c.1355G>A (p.Arg452Lys)
|
rs762394421
|
0.00013
|
NM_000815.5(GABRD):c.942C>T (p.Phe314=)
|
rs139676179
|
0.00013
|
NM_001350451.2(RBFOX3):c.1029G>A (p.Pro343=)
|
rs373093807
|
0.00013
|
NM_145893.3(RBFOX1):c.51T>C (p.Ile17=)
|
rs781023213
|
0.00013
|
NM_001350451.2(RBFOX3):c.568+6G>C
|
rs953699995
|
0.00012
|
NM_018723.4(RBFOX1):c.979G>A (p.Ala327Thr)
|
rs139929599
|
0.00012
|
NM_000815.5(GABRD):c.1314G>A (p.Ala438=)
|
rs138909980
|
0.00011
|
NM_000815.5(GABRD):c.444C>T (p.Pro148=)
|
rs373608463
|
0.00011
|
NM_000815.5(GABRD):c.730C>T (p.Arg244Trp)
|
rs150097692
|
0.00011
|
NM_001350451.2(RBFOX3):c.755+18G>A
|
rs755771324
|
0.00011
|
NM_000815.5(GABRD):c.1252C>T (p.Arg418Trp)
|
rs200019257
|
0.00010
|
NM_001350451.2(RBFOX3):c.141G>C (p.Leu47=)
|
rs367559413
|
0.00010
|
NM_001350451.2(RBFOX3):c.360+11G>A
|
rs377759206
|
0.00010
|
NM_001350451.2(RBFOX3):c.603C>T (p.Tyr201=)
|
rs377709616
|
0.00010
|
NM_018723.4(RBFOX1):c.52C>G (p.Pro18Ala)
|
rs149974858
|
0.00010
|
NM_018723.4(RBFOX1):c.795C>T (p.Ala265=)
|
rs376576588
|
0.00010
|
NM_018723.4(RBFOX1):c.890+17C>T
|
rs1285678739
|
0.00010
|
NM_000726.5(CACNB4):c.1031G>A (p.Arg344Gln)
|
rs776608168
|
0.00009
|
NM_000726.5(CACNB4):c.91A>C (p.Ser31Arg)
|
rs773391545
|
0.00009
|
NM_000815.5(GABRD):c.1166G>C (p.Gly389Ala)
|
rs372742962
|
0.00009
|
NM_000815.5(GABRD):c.1222C>T (p.Arg408Cys)
|
rs200430448
|
0.00009
|
NM_000815.5(GABRD):c.153C>T (p.Tyr51=)
|
rs148496176
|
0.00009
|
NM_000815.5(GABRD):c.267G>A (p.Val89=)
|
rs377536787
|
0.00009
|
NM_001350451.2(RBFOX3):c.343T>C (p.Leu115=)
|
rs779066017
|
0.00009
|
NM_001350451.2(RBFOX3):c.945C>T (p.Tyr315=)
|
rs992186015
|
0.00009
|
NM_018723.4(RBFOX1):c.643G>C (p.Val215Leu)
|
rs141994899
|
0.00009
|
NM_018723.4(RBFOX1):c.708G>A (p.Glu236=)
|
rs368113568
|
0.00009
|
NM_018723.4(RBFOX1):c.753T>C (p.Ser251=)
|
rs372725346
|
0.00009
|
NM_145893.3(RBFOX1):c.83T>C (p.Ile28Thr)
|
rs147525462
|
0.00009
|
NM_000726.5(CACNB4):c.186C>T (p.Ser62=)
|
rs371263141
|
0.00008
|
NM_000726.5(CACNB4):c.771G>A (p.Thr257=)
|
rs2293219
|
0.00008
|
NM_000815.5(GABRD):c.1005C>T (p.Ala335=)
|
rs370201162
|
0.00008
|
NM_000815.5(GABRD):c.668C>T (p.Thr223Met)
|
rs369511458
|
0.00008
|
NM_000815.5(GABRD):c.96G>C (p.Val32=)
|
rs773911493
|
0.00008
|
NM_018723.4(RBFOX1):c.329C>T (p.Thr110Met)
|
rs200502098
|
0.00008
|
NM_018723.4(RBFOX1):c.931-5157G>C
|
rs375075227
|
0.00008
|
NM_000815.5(GABRD):c.1350C>T (p.Tyr450=)
|
rs368462032
|
0.00007
|
NM_000815.5(GABRD):c.447C>T (p.Asp149=)
|
rs775338230
|
0.00007
|
NM_000815.5(GABRD):c.934G>A (p.Val312Ile)
|
rs774201718
|
0.00007
|
NM_001350451.2(RBFOX3):c.114G>A (p.Pro38=)
|
rs372250322
|
0.00007
|
NM_001350451.2(RBFOX3):c.257C>T (p.Pro86Leu)
|
rs377660420
|
0.00007
|
NM_001350451.2(RBFOX3):c.735C>G (p.Pro245=)
|
rs911540420
|
0.00007
|
NM_018723.4(RBFOX1):c.757+15G>A
|
rs200892489
|
0.00007
|
NM_000726.5(CACNB4):c.620C>T (p.Thr207Met)
|
rs750116399
|
0.00006
|
NM_000815.5(GABRD):c.522C>T (p.Asp174=)
|
rs534661864
|
0.00006
|
NM_000815.5(GABRD):c.747G>C (p.Val249=)
|
rs199993714
|
0.00006
|
NM_001350451.2(RBFOX3):c.33C>A (p.Pro11=)
|
rs530721444
|
0.00006
|
NM_001350451.2(RBFOX3):c.999-13C>T
|
rs934108895
|
0.00006
|
NM_001350451.2(RBFOX3):c.9G>A (p.Gln3=)
|
rs904015242
|
0.00006
|
NM_018723.4(RBFOX1):c.1017C>T (p.Ala339=)
|
rs148909710
|
0.00006
|
NM_018723.4(RBFOX1):c.1032C>T (p.His344=)
|
rs534312610
|
0.00006
|
NM_018723.4(RBFOX1):c.1050C>A (p.Pro350=)
|
rs141919506
|
0.00006
|
NM_018723.4(RBFOX1):c.330G>A (p.Thr110=)
|
rs772231726
|
0.00006
|
NM_018723.4(RBFOX1):c.615T>C (p.Tyr205=)
|
rs764254377
|
0.00006
|
NM_018723.4(RBFOX1):c.996-19A>C
|
rs200846246
|
0.00006
|
NM_018723.4(RBFOX1):c.999C>T (p.Tyr333=)
|
rs368442088
|
0.00006
|
NM_145893.3(RBFOX1):c.9G>A (p.Ala3=)
|
rs771567004
|
0.00006
|
NM_000726.5(CACNB4):c.1107A>G (p.Gln369=)
|
rs201700362
|
0.00005
|
NM_000726.5(CACNB4):c.1358G>T (p.Arg453Leu)
|
rs768245741
|
0.00005
|
NM_000726.5(CACNB4):c.1418G>A (p.Arg473His)
|
rs368111233
|
0.00005
|
NM_000815.5(GABRD):c.105C>T (p.Asn35=)
|
rs113473839
|
0.00005
|
NM_000815.5(GABRD):c.690C>T (p.Ser230=)
|
rs146193210
|
0.00005
|
NM_000815.5(GABRD):c.822G>A (p.Ala274=)
|
rs769125045
|
0.00005
|
NM_001350451.2(RBFOX3):c.1014C>T (p.Tyr338=)
|
rs780661784
|
0.00005
|
NM_001350451.2(RBFOX3):c.237G>A (p.Ala79=)
|
rs770647329
|
0.00005
|
NM_001350451.2(RBFOX3):c.61G>A (p.Glu21Lys)
|
rs1055293531
|
0.00005
|
NM_001350451.2(RBFOX3):c.622+14C>T
|
rs1028999714
|
0.00005
|
NM_001350451.2(RBFOX3):c.755+16G>A
|
rs951953480
|
0.00005
|
NM_018723.4(RBFOX1):c.28-185047C>T
|
rs371603385
|
0.00005
|
NM_018723.4(RBFOX1):c.885C>T (p.Tyr295=)
|
rs774530398
|
0.00005
|
NM_000726.5(CACNB4):c.1302+7T>C
|
rs200945311
|
0.00004
|
NM_000726.5(CACNB4):c.1553A>G (p.His518Arg)
|
rs377492950
|
0.00004
|
NM_000726.5(CACNB4):c.34G>T (p.Ala12Ser)
|
rs958254778
|
0.00004
|
NM_000726.5(CACNB4):c.36G>A (p.Ala12=)
|
rs754380009
|
0.00004
|
NM_000726.5(CACNB4):c.438T>C (p.Cys146=)
|
rs373311758
|
0.00004
|
NM_000815.5(GABRD):c.1059+16C>T
|
rs541562450
|
0.00004
|
NM_000815.5(GABRD):c.1059+8C>T
|
rs752030520
|
0.00004
|
NM_000815.5(GABRD):c.1135C>T (p.Arg379Trp)
|
rs754636335
|
0.00004
|
NM_000815.5(GABRD):c.1203G>A (p.Thr401=)
|
rs1348578642
|
0.00004
|
NM_000815.5(GABRD):c.1219G>A (p.Ala407Thr)
|
rs143031542
|
0.00004
|
NM_000815.5(GABRD):c.1296C>T (p.Arg432=)
|
rs375374936
|
0.00004
|
NM_000815.5(GABRD):c.147C>T (p.Ala49=)
|
rs147463074
|
0.00004
|
NM_000815.5(GABRD):c.181+20C>T
|
rs753987467
|
0.00004
|
NM_000815.5(GABRD):c.384C>T (p.Asn128=)
|
rs767409551
|
0.00004
|
NM_000815.5(GABRD):c.408C>T (p.Asp136=)
|
rs201757318
|
0.00004
|
NM_000815.5(GABRD):c.470+9G>A
|
rs1045485424
|
0.00004
|
NM_000815.5(GABRD):c.471-8C>A
|
rs748813137
|
0.00004
|
NM_000815.5(GABRD):c.684C>T (p.Phe228=)
|
rs558718893
|
0.00004
|
NM_000815.5(GABRD):c.7G>T (p.Ala3Ser)
|
rs759523853
|
0.00004
|
NM_000815.5(GABRD):c.966T>C (p.Phe322=)
|
rs937477150
|
0.00004
|
NM_001350451.2(RBFOX3):c.1023C>T (p.Ala341=)
|
rs990728601
|
0.00004
|
NM_001350451.2(RBFOX3):c.1053G>A (p.Ala351=)
|
rs1305432887
|
0.00004
|
NM_001350451.2(RBFOX3):c.1078-3T>C
|
rs990360044
|
0.00004
|
NM_001350451.2(RBFOX3):c.232G>A (p.Glu78Lys)
|
rs1032718998
|
0.00004
|
NM_001350451.2(RBFOX3):c.360+12C>T
|
rs901701800
|
0.00004
|
NM_001350451.2(RBFOX3):c.361-8C>T
|
rs957289800
|
0.00004
|
NM_001350451.2(RBFOX3):c.423G>A (p.Gly141=)
|
rs775993784
|
0.00004
|
NM_001350451.2(RBFOX3):c.48C>T (p.Asn16=)
|
rs561710608
|
0.00004
|
NM_001350451.2(RBFOX3):c.569-18T>C
|
rs918046686
|
0.00004
|
NM_001350451.2(RBFOX3):c.62A>C (p.Glu21Ala)
|
rs1167103679
|
0.00004
|
NM_001350451.2(RBFOX3):c.89C>T (p.Thr30Met)
|
rs747394355
|
0.00004
|
NM_018723.4(RBFOX1):c.1004G>A (p.Arg335Gln)
|
rs763620262
|
0.00004
|
NM_018723.4(RBFOX1):c.1018G>A (p.Asp340Asn)
|
rs1403788049
|
0.00004
|
NM_018723.4(RBFOX1):c.130C>T (p.Pro44Ser)
|
rs201490398
|
0.00004
|
NM_018723.4(RBFOX1):c.146C>T (p.Ala49Val)
|
rs767917479
|
0.00004
|
NM_018723.4(RBFOX1):c.151G>A (p.Glu51Lys)
|
rs778034989
|
0.00004
|
NM_018723.4(RBFOX1):c.220G>C (p.Glu74Gln)
|
rs748804086
|
0.00004
|
NM_018723.4(RBFOX1):c.239C>A (p.Thr80Lys)
|
rs371393737
|
0.00004
|
NM_018723.4(RBFOX1):c.293C>T (p.Thr98Met)
|
rs373077021
|
0.00004
|
NM_018723.4(RBFOX1):c.354G>A (p.Arg118=)
|
rs200053144
|
0.00004
|
NM_018723.4(RBFOX1):c.603C>T (p.Thr201=)
|
rs772611871
|
0.00004
|
NM_018723.4(RBFOX1):c.789C>T (p.Ala263=)
|
rs577598050
|
0.00004
|
NM_018723.4(RBFOX1):c.871C>G (p.Pro291Ala)
|
rs768195911
|
0.00004
|
NM_018723.4(RBFOX1):c.873G>A (p.Pro291=)
|
rs761510301
|
0.00004
|
NM_018723.4(RBFOX1):c.886G>A (p.Gly296Ser)
|
rs759654438
|
0.00004
|
NM_018723.4(RBFOX1):c.955G>A (p.Ala319Thr)
|
rs199644500
|
0.00004
|
NM_145893.3(RBFOX1):c.36T>C (p.Tyr12=)
|
rs767727470
|
0.00004
|
NM_145893.3(RBFOX1):c.62C>T (p.Ala21Val)
|
rs375723096
|
0.00004
|
NM_000726.5(CACNB4):c.1027C>G (p.Gln343Glu)
|
rs1328517680
|
0.00003
|
NM_000726.5(CACNB4):c.1403G>A (p.Arg468Gln)
|
rs1169898698
|
0.00003
|
NM_000726.5(CACNB4):c.1549C>T (p.Arg517Ter)
|
rs370263335
|
0.00003
|
NM_000726.5(CACNB4):c.48C>T (p.His16=)
|
rs766238244
|
0.00003
|
NM_000726.5(CACNB4):c.640G>A (p.Asp214Asn)
|
rs767538753
|
0.00003
|
NM_000815.5(GABRD):c.1154G>A (p.Gly385Glu)
|
rs753657631
|
0.00003
|
NM_000815.5(GABRD):c.1343C>T (p.Ala448Val)
|
rs756592609
|
0.00003
|
NM_000815.5(GABRD):c.135C>T (p.Asp45=)
|
rs754323369
|
0.00003
|
NM_000815.5(GABRD):c.554-5T>A
|
rs766985428
|
0.00003
|
NM_000815.5(GABRD):c.692-18C>T
|
rs554815044
|
0.00003
|
NM_000815.5(GABRD):c.780G>C (p.Leu260=)
|
rs369231950
|
0.00003
|
NM_000815.5(GABRD):c.847+12C>T
|
rs770968835
|
0.00003
|
NM_000815.5(GABRD):c.847+5G>A
|
rs1231232821
|
0.00003
|
NM_000815.5(GABRD):c.848-6C>T
|
rs368572778
|
0.00003
|
NM_001350451.2(RBFOX3):c.1002C>T (p.Tyr334=)
|
rs972548690
|
0.00003
|
NM_001350451.2(RBFOX3):c.1005C>T (p.Gly335=)
|
rs1197865456
|
0.00003
|
NM_001350451.2(RBFOX3):c.1056G>A (p.Ala352=)
|
rs1228682560
|
0.00003
|
NM_001350451.2(RBFOX3):c.165C>T (p.Pro55=)
|
rs1019002644
|
0.00003
|
NM_001350451.2(RBFOX3):c.166G>A (p.Glu56Lys)
|
rs748110754
|
0.00003
|
NM_001350451.2(RBFOX3):c.360+10C>T
|
rs1233398072
|
0.00003
|
NM_001350451.2(RBFOX3):c.414+13C>T
|
rs780036724
|
0.00003
|
NM_001350451.2(RBFOX3):c.549G>A (p.Thr183=)
|
rs369398194
|
0.00003
|
NM_001350451.2(RBFOX3):c.699C>T (p.Ala233=)
|
rs758656116
|
0.00003
|
NM_001350451.2(RBFOX3):c.903G>A (p.Val301=)
|
rs886670631
|
0.00003
|
NM_001350451.2(RBFOX3):c.92A>G (p.Gln31Arg)
|
rs1332700365
|
0.00003
|
NM_018723.4(RBFOX1):c.1059C>T (p.Gly353=)
|
rs749751319
|
0.00003
|
NM_018723.4(RBFOX1):c.562-12C>T
|
rs771443037
|
0.00003
|
NM_018723.4(RBFOX1):c.677-4G>A
|
rs759738790
|
0.00003
|
NM_018723.4(RBFOX1):c.831C>T (p.Arg277=)
|
rs765683149
|
0.00003
|
NM_018723.4(RBFOX1):c.954C>T (p.Tyr318=)
|
rs182244522
|
0.00003
|
NM_032119.4(ADGRV1):c.13919G>A (p.Gly4640Glu)
|
rs727504706
|
0.00003
|
NM_145893.3(RBFOX1):c.59C>T (p.Ala20Val)
|
rs201242998
|
0.00003
|
NM_145893.3(RBFOX1):c.63T>G (p.Ala21=)
|
rs775667685
|
0.00003
|
NM_145893.3(RBFOX1):c.64C>G (p.Pro22Ala)
|
rs760925781
|
0.00003
|
NM_145893.3(RBFOX1):c.987G>A (p.Leu329=)
|
rs1217033932
|
0.00003
|
NM_000726.5(CACNB4):c.1213A>C (p.Thr405Pro)
|
rs536470851
|
0.00002
|
NM_000726.5(CACNB4):c.1373C>A (p.Ser458Tyr)
|
rs761712022
|
0.00002
|
NM_000726.5(CACNB4):c.1437G>A (p.Gln479=)
|
rs794727118
|
0.00002
|
NM_000726.5(CACNB4):c.1496C>G (p.Thr499Ser)
|
rs770682557
|
0.00002
|
NM_000726.5(CACNB4):c.571A>T (p.Thr191Ser)
|
rs746415223
|
0.00002
|
NM_000815.5(GABRD):c.1059+9C>G
|
rs757611508
|
0.00002
|
NM_000815.5(GABRD):c.1105G>A (p.Gly369Ser)
|
rs759836961
|
0.00002
|
NM_000815.5(GABRD):c.181+9C>T
|
rs768389556
|
0.00002
|
NM_000815.5(GABRD):c.448G>A (p.Gly150Ser)
|
rs781431062
|
0.00002
|
NM_000815.5(GABRD):c.470+15C>A
|
rs766248295
|
0.00002
|
NM_000815.5(GABRD):c.93C>T (p.Tyr31=)
|
rs768454474
|
0.00002
|
NM_001350451.2(RBFOX3):c.1077+18G>A
|
rs1010660520
|
0.00002
|
NM_001350451.2(RBFOX3):c.10C>A (p.Pro4Thr)
|
rs368372440
|
0.00002
|
NM_001350451.2(RBFOX3):c.162C>T (p.His54=)
|
rs966632113
|
0.00002
|
NM_001350451.2(RBFOX3):c.204C>T (p.Ala68=)
|
rs998084414
|
0.00002
|
NM_001350451.2(RBFOX3):c.240A>G (p.Ala80=)
|
rs1272481386
|
0.00002
|
NM_001350451.2(RBFOX3):c.306C>T (p.His102=)
|
rs575797622
|
0.00002
|
NM_001350451.2(RBFOX3):c.414+9C>T
|
rs911641608
|
0.00002
|
NM_001350451.2(RBFOX3):c.556C>T (p.Pro186Ser)
|
rs372072435
|
0.00002
|
NM_001350451.2(RBFOX3):c.568+15C>G
|
rs749459956
|
0.00002
|
NM_001350451.2(RBFOX3):c.569-14T>G
|
rs769052612
|
0.00002
|
NM_001350451.2(RBFOX3):c.60C>T (p.Ala20=)
|
rs1048996078
|
0.00002
|
NM_001350451.2(RBFOX3):c.657C>T (p.Ala219=)
|
rs925521413
|
0.00002
|
NM_001350451.2(RBFOX3):c.71C>T (p.Pro24Leu)
|
rs1189505871
|
0.00002
|
NM_001350451.2(RBFOX3):c.937-8C>T
|
rs887758601
|
0.00002
|
NM_001350451.2(RBFOX3):c.998+13G>A
|
rs765108817
|
0.00002
|
NM_018723.4(RBFOX1):c.1000G>A (p.Gly334Arg)
|
rs535313416
|
0.00002
|
NM_018723.4(RBFOX1):c.1056C>T (p.Tyr352=)
|
rs372365163
|
0.00002
|
NM_018723.4(RBFOX1):c.189A>G (p.Leu63=)
|
rs767972090
|
0.00002
|
NM_018723.4(RBFOX1):c.231G>A (p.Pro77=)
|
rs775977215
|
0.00002
|
NM_018723.4(RBFOX1):c.270+7G>T
|
rs778547505
|
0.00002
|
NM_018723.4(RBFOX1):c.28-13T>C
|
rs200813556
|
0.00002
|
NM_018723.4(RBFOX1):c.291G>A (p.Pro97=)
|
rs770163669
|
0.00002
|
NM_018723.4(RBFOX1):c.292A>G (p.Thr98Ala)
|
rs769491451
|
0.00002
|
NM_018723.4(RBFOX1):c.322G>C (p.Glu108Gln)
|
rs771438834
|
0.00002
|
NM_018723.4(RBFOX1):c.387G>C (p.Arg129=)
|
rs148594771
|
0.00002
|
NM_018723.4(RBFOX1):c.393G>A (p.Pro131=)
|
rs772109063
|
0.00002
|
NM_018723.4(RBFOX1):c.414+20C>A
|
rs762873223
|
0.00002
|
NM_018723.4(RBFOX1):c.676+12C>G
|
rs748651106
|
0.00002
|
NM_018723.4(RBFOX1):c.792G>A (p.Ala264=)
|
rs745880431
|
0.00002
|
NM_018723.4(RBFOX1):c.888C>T (p.Gly296=)
|
rs921443679
|
0.00002
|
NM_018723.4(RBFOX1):c.931-9G>C
|
rs200198767
|
0.00002
|
NM_018723.4(RBFOX1):c.995+9C>T
|
rs749403774
|
0.00002
|
NM_145893.3(RBFOX1):c.84T>G (p.Ile28Met)
|
rs766344856
|
0.00002
|
NM_000726.5(CACNB4):c.1021-9T>C
|
rs1291994687
|
0.00001
|
NM_000726.5(CACNB4):c.1061G>A (p.Ser354Asn)
|
rs1559868500
|
0.00001
|
NM_000726.5(CACNB4):c.1083G>A (p.Leu361=)
|
rs779341851
|
0.00001
|
NM_000726.5(CACNB4):c.1272A>G (p.Ser424=)
|
rs767662214
|
0.00001
|
NM_000726.5(CACNB4):c.1310G>A (p.Arg437Gln)
|
rs751754026
|
0.00001
|
NM_000726.5(CACNB4):c.1318C>G (p.His440Asp)
|
rs1553740358
|
0.00001
|
NM_000726.5(CACNB4):c.1417C>T (p.Arg473Cys)
|
rs755031838
|
0.00001
|
NM_000726.5(CACNB4):c.1456C>A (p.Pro486Thr)
|
rs1351243423
|
0.00001
|
NM_000726.5(CACNB4):c.1489C>A (p.Gln497Lys)
|
rs1354478341
|
0.00001
|
NM_000726.5(CACNB4):c.1500C>T (p.Tyr500=)
|
rs749277227
|
0.00001
|
NM_000726.5(CACNB4):c.1536T>C (p.Tyr512=)
|
rs779464772
|
0.00001
|
NM_000726.5(CACNB4):c.1550G>A (p.Arg517Gln)
|
rs760115429
|
0.00001
|
NM_000726.5(CACNB4):c.1554T>C (p.His518=)
|
rs766933826
|
0.00001
|
NM_000726.5(CACNB4):c.156G>A (p.Ala52=)
|
rs764332480
|
0.00001
|
NM_000726.5(CACNB4):c.288C>T (p.Ala96=)
|
rs558998873
|
0.00001
|
NM_000726.5(CACNB4):c.315C>T (p.Gly105=)
|
rs748422887
|
0.00001
|
NM_000726.5(CACNB4):c.316G>A (p.Ala106Thr)
|
rs781542443
|
0.00001
|
NM_000726.5(CACNB4):c.495A>T (p.Glu165Asp)
|
rs1261256653
|
0.00001
|
NM_000726.5(CACNB4):c.503G>A (p.Arg168Lys)
|
rs376364352
|
0.00001
|
NM_000726.5(CACNB4):c.621G>A (p.Thr207=)
|
rs778919621
|
0.00001
|
NM_000726.5(CACNB4):c.809T>C (p.Val270Ala)
|
rs1578499181
|
0.00001
|
NM_000726.5(CACNB4):c.815A>G (p.Asn272Ser)
|
rs752007243
|
0.00001
|
NM_000726.5(CACNB4):c.869-5T>G
|
rs796052289
|
0.00001
|
NM_000726.5(CACNB4):c.869-8C>A
|
rs756966816
|
0.00001
|
NM_000726.5(CACNB4):c.930T>C (p.Val310=)
|
rs748444028
|
0.00001
|
NM_000726.5(CACNB4):c.984A>G (p.Ala328=)
|
rs532162701
|
0.00001
|
NM_000726.5(CACNB4):c.988A>G (p.Ile330Val)
|
rs751029383
|
0.00001
|
NM_000815.5(GABRD):c.1001A>G (p.Asn334Ser)
|
rs764783225
|
0.00001
|
NM_000815.5(GABRD):c.1003G>A (p.Ala335Thr)
|
rs758908317
|
0.00001
|
NM_000815.5(GABRD):c.1032G>A (p.Lys344=)
|
rs773238325
|
0.00001
|
NM_000815.5(GABRD):c.1060A>G (p.Met354Val)
|
rs768220667
|
0.00001
|
NM_000815.5(GABRD):c.1100C>T (p.Ala367Val)
|
rs1020129541
|
0.00001
|
NM_000815.5(GABRD):c.1108G>A (p.Val370Ile)
|
rs1057519556
|
0.00001
|
NM_000815.5(GABRD):c.1151C>T (p.Pro384Leu)
|
rs764066786
|
0.00001
|
NM_000815.5(GABRD):c.1161G>A (p.Leu387=)
|
rs757988403
|
0.00001
|
NM_000815.5(GABRD):c.1194_1195del (p.Glu400fs)
|
rs1351197180
|
0.00001
|
NM_000815.5(GABRD):c.1223G>A (p.Arg408His)
|
rs901937998
|
0.00001
|
NM_000815.5(GABRD):c.1229G>T (p.Gly410Val)
|
rs200605909
|
0.00001
|
NM_000815.5(GABRD):c.1246C>T (p.Arg416Cys)
|
rs370735082
|
0.00001
|
NM_000815.5(GABRD):c.1247G>A (p.Arg416His)
|
rs1011029441
|
0.00001
|
NM_000815.5(GABRD):c.1269C>T (p.Asp423=)
|
rs958420807
|
0.00001
|
NM_000815.5(GABRD):c.1270G>A (p.Ala424Thr)
|
rs770260377
|
0.00001
|
NM_000815.5(GABRD):c.1284C>T (p.Asp428=)
|
rs749606562
|
0.00001
|
NM_000815.5(GABRD):c.1323C>T (p.Ala441=)
|
rs140601233
|
0.00001
|
NM_000815.5(GABRD):c.1338C>T (p.Tyr446=)
|
rs1274279096
|
0.00001
|
NM_000815.5(GABRD):c.136G>A (p.Gly46Arg)
|
rs1658879135
|
0.00001
|
NM_000815.5(GABRD):c.14C>G (p.Ala5Gly)
|
rs1207791272
|
0.00001
|
NM_000815.5(GABRD):c.15C>T (p.Ala5=)
|
rs1453164730
|
0.00001
|
NM_000815.5(GABRD):c.178G>A (p.Gly60Arg)
|
rs749214783
|
0.00001
|
NM_000815.5(GABRD):c.222C>T (p.Ser74=)
|
rs778846634
|
0.00001
|
NM_000815.5(GABRD):c.244A>G (p.Asn82Asp)
|
rs770620492
|
0.00001
|
NM_000815.5(GABRD):c.249+8C>G
|
rs769197624
|
0.00001
|
NM_000815.5(GABRD):c.249+8C>T
|
rs769197624
|
0.00001
|
NM_000815.5(GABRD):c.263C>T (p.Thr88Met)
|
rs373508468
|
0.00001
|
NM_000815.5(GABRD):c.367G>A (p.Asp123Asn)
|
rs1658901832
|
0.00001
|
NM_000815.5(GABRD):c.425A>G (p.Lys142Arg)
|
rs1183821856
|
0.00001
|
NM_000815.5(GABRD):c.470+7G>A
|
rs533453337
|
0.00001
|
NM_000815.5(GABRD):c.553+10T>C
|
rs769597473
|
0.00001
|
NM_000815.5(GABRD):c.590C>T (p.Ser197Leu)
|
rs750394202
|
0.00001
|
NM_000815.5(GABRD):c.596G>A (p.Ser199Asn)
|
rs779793371
|
0.00001
|
NM_000815.5(GABRD):c.612C>T (p.His204=)
|
rs375272573
|
0.00001
|
NM_000815.5(GABRD):c.65C>T (p.Thr22Ile)
|
rs1658715532
|
0.00001
|
NM_000815.5(GABRD):c.68+5G>C
|
rs1571022283
|
0.00001
|
NM_000815.5(GABRD):c.71C>T (p.Ala24Val)
|
rs748341188
|
0.00001
|
NM_000815.5(GABRD):c.728T>C (p.Leu243Pro)
|
rs1248355743
|
0.00001
|
NM_000815.5(GABRD):c.72G>A (p.Ala24=)
|
rs772327427
|
0.00001
|
NM_000815.5(GABRD):c.777C>T (p.Val259=)
|
rs553793272
|
0.00001
|
NM_000815.5(GABRD):c.786C>T (p.Val262=)
|
rs1217829506
|
0.00001
|
NM_000815.5(GABRD):c.828G>A (p.Val276=)
|
rs1012449006
|
0.00001
|
NM_000815.5(GABRD):c.84C>T (p.Ile28=)
|
rs769857211
|
0.00001
|
NM_000815.5(GABRD):c.931G>A (p.Asp311Asn)
|
rs1248660340
|
0.00001
|
NM_000815.5(GABRD):c.933C>T (p.Asp311=)
|
rs200124298
|
0.00001
|
NM_000815.5(GABRD):c.94G>A (p.Val32Met)
|
rs1295769740
|
0.00001
|
NM_000815.5(GABRD):c.960C>T (p.Phe320=)
|
rs201101812
|
0.00001
|
NM_000815.5(GABRD):c.972C>G (p.Ala324=)
|
rs368765147
|
0.00001
|
NM_000815.5(GABRD):c.992C>G (p.Ala331Gly)
|
rs1164930036
|
0.00001
|
NM_000815.5(GABRD):c.99C>T (p.Gly33=)
|
rs761436257
|
0.00001
|
NM_001350451.2(RBFOX3):c.1028C>T (p.Pro343Leu)
|
rs1208480613
|
0.00001
|
NM_001350451.2(RBFOX3):c.1051G>A (p.Ala351Thr)
|
rs1003593947
|
0.00001
|
NM_001350451.2(RBFOX3):c.1055C>T (p.Ala352Val)
|
rs1294363374
|
0.00001
|
NM_001350451.2(RBFOX3):c.1077+6G>A
|
rs757903881
|
0.00001
|
NM_001350451.2(RBFOX3):c.180C>T (p.Ser60=)
|
rs1226722084
|
0.00001
|
NM_001350451.2(RBFOX3):c.184G>A (p.Ala62Thr)
|
rs2033670420
|
0.00001
|
NM_001350451.2(RBFOX3):c.185C>T (p.Ala62Val)
|
rs1289325621
|
0.00001
|
NM_001350451.2(RBFOX3):c.222+11C>T
|
rs2033658024
|
0.00001
|
NM_001350451.2(RBFOX3):c.236C>T (p.Ala79Val)
|
rs776016743
|
0.00001
|
NM_001350451.2(RBFOX3):c.277A>G (p.Thr93Ala)
|
rs1568139609
|
0.00001
|
NM_001350451.2(RBFOX3):c.278C>G (p.Thr93Arg)
|
rs1339077239
|
0.00001
|
NM_001350451.2(RBFOX3):c.339C>T (p.Pro113=)
|
rs758551578
|
0.00001
|
NM_001350451.2(RBFOX3):c.357C>T (p.Phe119=)
|
rs1207044826
|
0.00001
|
NM_001350451.2(RBFOX3):c.415-4A>G
|
rs878854169
|
0.00001
|
NM_001350451.2(RBFOX3):c.415-9T>C
|
rs878854170
|
0.00001
|
NM_001350451.2(RBFOX3):c.458G>A (p.Arg153Gln)
|
rs566515477
|
0.00001
|
NM_001350451.2(RBFOX3):c.568+7G>A
|
rs771129435
|
0.00001
|
NM_001350451.2(RBFOX3):c.623-11G>C
|
rs1170040285
|
0.00001
|
NM_001350451.2(RBFOX3):c.641C>A (p.Pro214His)
|
rs370372079
|
0.00001
|
NM_001350451.2(RBFOX3):c.646A>G (p.Thr216Ala)
|
rs1456815875
|
0.00001
|
NM_001350451.2(RBFOX3):c.647C>T (p.Thr216Ile)
|
rs1671568075
|
0.00001
|
NM_001350451.2(RBFOX3):c.665A>T (p.Tyr222Phe)
|
rs1568119836
|
0.00001
|
NM_001350451.2(RBFOX3):c.673G>A (p.Ala225Thr)
|
rs1479403018
|
0.00001
|
NM_001350451.2(RBFOX3):c.688C>T (p.Arg230Trp)
|
rs1170085775
|
0.00001
|
NM_001350451.2(RBFOX3):c.700G>A (p.Val234Met)
|
rs921899416
|
0.00001
|
NM_001350451.2(RBFOX3):c.709A>G (p.Thr237Ala)
|
rs551476510
|
0.00001
|
NM_001350451.2(RBFOX3):c.718G>A (p.Ala240Thr)
|
rs1381383669
|
0.00001
|
NM_001350451.2(RBFOX3):c.741C>T (p.Ile247=)
|
rs866943064
|
0.00001
|
NM_001350451.2(RBFOX3):c.750C>T (p.Tyr250=)
|
rs1015038952
|
0.00001
|
NM_001350451.2(RBFOX3):c.80C>T (p.Pro27Leu)
|
rs368393347
|
0.00001
|
NM_001350451.2(RBFOX3):c.912T>C (p.Asp304=)
|
rs1474903517
|
0.00001
|
NM_001350451.2(RBFOX3):c.942C>T (p.Gly314=)
|
rs746156238
|
0.00001
|
NM_001350451.2(RBFOX3):c.984A>T (p.Ala328=)
|
rs1201055787
|
0.00001
|
NM_014592.4(KCNIP1):c.328G>A (p.Asp110Asn)
|
rs1763869544
|
0.00001
|
NM_018723.4(RBFOX1):c.1006G>C (p.Val336Leu)
|
rs766496349
|
0.00001
|
NM_018723.4(RBFOX1):c.1042C>G (p.Pro348Ala)
|
rs538050088
|
0.00001
|
NM_018723.4(RBFOX1):c.1132G>A (p.Val378Ile)
|
rs369122393
|
0.00001
|
NM_018723.4(RBFOX1):c.138C>T (p.Pro46=)
|
rs1315127050
|
0.00001
|
NM_018723.4(RBFOX1):c.163C>G (p.Gln55Glu)
|
rs1567632409
|
0.00001
|
NM_018723.4(RBFOX1):c.177C>T (p.Pro59=)
|
rs1304807131
|
0.00001
|
NM_018723.4(RBFOX1):c.186A>G (p.Thr62=)
|
rs759837636
|
0.00001
|
NM_018723.4(RBFOX1):c.191A>T (p.Asn64Ile)
|
rs753108920
|
0.00001
|
NM_018723.4(RBFOX1):c.200C>G (p.Pro67Arg)
|
rs1257361531
|
0.00001
|
NM_018723.4(RBFOX1):c.212C>A (p.Thr71Lys)
|
rs781081302
|
0.00001
|
NM_018723.4(RBFOX1):c.217T>G (p.Ser73Ala)
|
rs769785213
|
0.00001
|
NM_018723.4(RBFOX1):c.243C>T (p.Ser81=)
|
rs1268768787
|
0.00001
|
NM_018723.4(RBFOX1):c.244G>A (p.Ala82Thr)
|
rs758714800
|
0.00001
|
NM_018723.4(RBFOX1):c.271-4T>G
|
rs749852826
|
0.00001
|
NM_018723.4(RBFOX1):c.294G>C (p.Thr98=)
|
rs372977736
|
0.00001
|
NM_018723.4(RBFOX1):c.303G>A (p.Gln101=)
|
rs750342737
|
0.00001
|
NM_018723.4(RBFOX1):c.305C>T (p.Pro102Leu)
|
rs765974335
|
0.00001
|
NM_018723.4(RBFOX1):c.360T>C (p.His120=)
|
rs767190235
|
0.00001
|
NM_018723.4(RBFOX1):c.415-12A>G
|
rs751611395
|
0.00001
|
NM_018723.4(RBFOX1):c.43G>A (p.Ala15Thr)
|
rs1013691536
|
0.00001
|
NM_018723.4(RBFOX1):c.469-13C>T
|
rs1378738998
|
0.00001
|
NM_018723.4(RBFOX1):c.46G>A (p.Ala16Thr)
|
rs779321097
|
0.00001
|
NM_018723.4(RBFOX1):c.500C>T (p.Ala167Val)
|
rs773528139
|
0.00001
|
NM_018723.4(RBFOX1):c.538G>A (p.Val180Met)
|
rs372761949
|
0.00001
|
NM_018723.4(RBFOX1):c.562-20T>G
|
rs1355901802
|
0.00001
|
NM_018723.4(RBFOX1):c.562-5C>T
|
rs751374056
|
0.00001
|
NM_018723.4(RBFOX1):c.576A>T (p.Thr192=)
|
rs769265490
|
0.00001
|
NM_018723.4(RBFOX1):c.604G>A (p.Val202Ile)
|
rs774774269
|
0.00001
|
NM_018723.4(RBFOX1):c.611C>T (p.Pro204Leu)
|
rs1417087822
|
0.00001
|
NM_018723.4(RBFOX1):c.676+4C>T
|
rs370887797
|
0.00001
|
NM_018723.4(RBFOX1):c.676+6G>C
|
rs781701289
|
0.00001
|
NM_018723.4(RBFOX1):c.717C>T (p.Ser239=)
|
rs201549920
|
0.00001
|
NM_018723.4(RBFOX1):c.747T>C (p.Tyr249=)
|
rs779034823
|
0.00001
|
NM_018723.4(RBFOX1):c.757+14C>T
|
rs776439789
|
0.00001
|
NM_018723.4(RBFOX1):c.757+7C>T
|
rs958684686
|
0.00001
|
NM_018723.4(RBFOX1):c.771G>A (p.Pro257=)
|
rs916986800
|
0.00001
|
NM_018723.4(RBFOX1):c.801C>T (p.Tyr267=)
|
rs747421844
|
0.00001
|
NM_018723.4(RBFOX1):c.802C>A (p.Arg268=)
|
rs890155302
|
0.00001
|
NM_018723.4(RBFOX1):c.80C>T (p.Ser27Leu)
|
rs527782263
|
0.00001
|
NM_018723.4(RBFOX1):c.931-5159T>C
|
rs780351349
|
0.00001
|
NM_018723.4(RBFOX1):c.931-5224C>T
|
rs776577408
|
0.00001
|
NM_018723.4(RBFOX1):c.931-6T>C
|
rs1352822587
|
0.00001
|
NM_018723.4(RBFOX1):c.939T>C (p.Tyr313=)
|
rs1022794718
|
0.00001
|
NM_018723.4(RBFOX1):c.943G>A (p.Ala315Thr)
|
rs560607770
|
0.00001
|
NM_018723.4(RBFOX1):c.94C>G (p.Pro32Ala)
|
rs1567630819
|
0.00001
|
NM_018723.4(RBFOX1):c.98C>A (p.Pro33Gln)
|
rs750747492
|
0.00001
|
NM_018723.4(RBFOX1):c.995+19G>C
|
rs200394869
|
0.00001
|
NM_032119.4(ADGRV1):c.9214G>A (p.Gly3072Ser)
|
rs757560169
|
0.00001
|
NM_145893.3(RBFOX1):c.25C>T (p.Leu9=)
|
rs1347157111
|
0.00001
|
NM_145893.3(RBFOX1):c.35A>T (p.Tyr12Phe)
|
rs759616730
|
0.00001
|
NM_145893.3(RBFOX1):c.39C>T (p.Gly13=)
|
rs757066841
|
0.00001
|
NM_145893.3(RBFOX1):c.55C>T (p.Pro19Ser)
|
rs773668882
|
0.00001
|
NM_145893.3(RBFOX1):c.61G>T (p.Ala21Ser)
|
rs1325337150
|
0.00001
|
NM_145893.3(RBFOX1):c.74C>T (p.Pro25Leu)
|
rs998828744
|
0.00001
|
NM_145893.3(RBFOX1):c.977G>T (p.Gly326Val)
|
rs767345247
|
0.00001
|
NM_145893.3(RBFOX1):c.983A>G (p.Lys328Arg)
|
rs1287710352
|
0.00001
|
NC_000001.10:g.(?_1249188)_(1961741_?)del
|
|
|
NC_000001.10:g.(?_1724664)_(2338414_?)dup
|
|
|
NC_000001.10:g.(?_1950843)_(1961741_?)dup
|
|
|
NC_000001.11:g.(?_2019404)_(2030302_?)del
|
|
|
NC_000001.11:g.(?_2024922)_(2030302_?)dup
|
|
|
NC_000002.11:g.(?_152466313)_(152698612_?)dup
|
|
|
NC_000002.11:g.(?_152695633)_(152739904_?)del
|
|
|
NC_000002.12:g.(?_151839099)_(151973733_?)del
|
|
|
NC_000016.10:g.(?_7653795)_(7664988_?)del
|
|
|
NC_000016.9:g.(?_7102053)_(7760767_?)dup
|
|
|
NC_000016.9:g.(?_7382983)_(7647453_?)dup
|
|
|
NC_000016.9:g.(?_7383003)_(7568411_?)del
|
|
|
NC_000016.9:g.(?_7383003)_(7680705_?)del
|
|
|
NC_000016.9:g.(?_7383003)_(7680705_?)dup
|
|
|
NC_000016.9:g.(?_7383003)_(7760747_?)dup
|
|
|
NC_000016.9:g.(?_7560981)_(7680705_?)dup
|
|
|
NC_000016.9:g.(?_7568129)_(7760747_?)dup
|
|
|
NC_000016.9:g.(?_7629759)_(7760747_?)del
|
|
|
NC_000016.9:g.(?_7647353)_(7657360_?)del
|
|
|
NM_000388.4(CASR):c.2122G>A (p.Ala708Thr)
|
rs2074931493
|
|
NM_000726.5(CACNB4):c.1021-7C>T
|
rs2151353341
|
|
NM_000726.5(CACNB4):c.1033T>C (p.Leu345=)
|
rs529832815
|
|
NM_000726.5(CACNB4):c.1109G>C (p.Cys370Ser)
|
rs1306015107
|
|
NM_000726.5(CACNB4):c.1146T>C (p.Asn382=)
|
rs927678994
|
|
NM_000726.5(CACNB4):c.1191G>A (p.Ala397=)
|
rs369276166
|
|
NM_000726.5(CACNB4):c.1198C>T (p.Arg400Cys)
|
rs1060503174
|
|
NM_000726.5(CACNB4):c.1309C>T (p.Arg437Ter)
|
rs529888359
|
|
NM_000726.5(CACNB4):c.1445G>A (p.Arg482Gln)
|
rs1277708441
|
|
NM_000726.5(CACNB4):c.1467AGA[1] (p.Glu490del)
|
rs764343188
|
|
NM_000726.5(CACNB4):c.147+3A>G
|
rs768976112
|
|
NM_000726.5(CACNB4):c.1509T>C (p.His503=)
|
rs1060503173
|
|
NM_000726.5(CACNB4):c.1514A>G (p.Asn505Ser)
|
rs2099835534
|
|
NM_000726.5(CACNB4):c.222A>T (p.Arg74=)
|
rs553682728
|
|
NM_000726.5(CACNB4):c.311G>A (p.Cys104Tyr)
|
rs1805031
|
|
NM_000726.5(CACNB4):c.356C>T (p.Ser119Phe)
|
rs1367982719
|
|
NM_000726.5(CACNB4):c.391-9G>A
|
rs1342246691
|
|
NM_000726.5(CACNB4):c.40G>A (p.Gly14Arg)
|
rs573977862
|
|
NM_000726.5(CACNB4):c.40G>C (p.Gly14Arg)
|
rs573977862
|
|
NM_000726.5(CACNB4):c.45G>A (p.Pro15=)
|
rs536646578
|
|
NM_000726.5(CACNB4):c.465C>T (p.Leu155=)
|
rs2151429916
|
|
NM_000726.5(CACNB4):c.52C>T (p.Pro18Ser)
|
rs1304319164
|
|
NM_000726.5(CACNB4):c.537TTC[2] (p.Ser183del)
|
rs1057518634
|
|
NM_000726.5(CACNB4):c.582A>T (p.Ala194=)
|
rs776968687
|
|
NM_000726.5(CACNB4):c.598+9T>G
|
rs1578558910
|
|
NM_000726.5(CACNB4):c.616G>T (p.Val206Leu)
|
rs1260619468
|
|
NM_000726.5(CACNB4):c.618+4A>C
|
rs2099844445
|
|
NM_000726.5(CACNB4):c.628A>G (p.Ile210Val)
|
rs2099844376
|
|
NM_000726.5(CACNB4):c.699+6A>G
|
rs1454032027
|
|
NM_000726.5(CACNB4):c.757A>G (p.Arg253Gly)
|
rs2151401327
|
|
NM_000726.5(CACNB4):c.770C>T (p.Thr257Met)
|
rs1553749683
|
|
NM_000726.5(CACNB4):c.780A>C (p.Thr260=)
|
rs2151376464
|
|
NM_000726.5(CACNB4):c.967A>G (p.Ile323Val)
|
rs1559871505
|
|
NM_000815.5(GABRD):c.1005C>G (p.Ala335=)
|
|
|
NM_000815.5(GABRD):c.1006G>A (p.Asp336Asn)
|
rs1200416339
|
|
NM_000815.5(GABRD):c.1027G>C (p.Ala343Pro)
|
rs749316684
|
|
NM_000815.5(GABRD):c.1029C>G (p.Ala343=)
|
|
|
NM_000815.5(GABRD):c.1031A>T (p.Lys344Met)
|
rs1659031445
|
|
NM_000815.5(GABRD):c.1035C>G (p.Val345=)
|
|
|
NM_000815.5(GABRD):c.1049C>T (p.Pro350Leu)
|
|
|
NM_000815.5(GABRD):c.104A>G (p.Asn35Ser)
|
|
|
NM_000815.5(GABRD):c.1050G>A (p.Pro350=)
|
|
|
NM_000815.5(GABRD):c.1059+17G>A
|
|
|
NM_000815.5(GABRD):c.1060-13G>A
|
|
|
NM_000815.5(GABRD):c.1060-3C>A
|
|
|
NM_000815.5(GABRD):c.1065C>G (p.Asp355Glu)
|
rs1031482653
|
|
NM_000815.5(GABRD):c.1066G>A (p.Val356Met)
|
|
|
NM_000815.5(GABRD):c.1070G>A (p.Arg357Lys)
|
|
|
NM_000815.5(GABRD):c.1074C>T (p.Asn358=)
|
|
|
NM_000815.5(GABRD):c.1089C>G (p.Phe363Leu)
|
rs1359928378
|
|
NM_000815.5(GABRD):c.1097_1098del (p.Ser366fs)
|
|
|
NM_000815.5(GABRD):c.1105G>T (p.Gly369Cys)
|
rs759836961
|
|
NM_000815.5(GABRD):c.1107C>T (p.Gly369=)
|
|
|
NM_000815.5(GABRD):c.1112C>T (p.Thr371Met)
|
|
|
NM_000815.5(GABRD):c.1115A>G (p.Gln372Arg)
|
rs1659040935
|
|
NM_000815.5(GABRD):c.1125C>T (p.Ala375=)
|
|
|
NM_000815.5(GABRD):c.1133G>T (p.Arg378Leu)
|
|
|
NM_000815.5(GABRD):c.1136G>A (p.Arg379Gln)
|
rs369490217
|
|
NM_000815.5(GABRD):c.1136G>C (p.Arg379Pro)
|
|
|
NM_000815.5(GABRD):c.1141C>T (p.Arg381Cys)
|
rs773818258
|
|
NM_000815.5(GABRD):c.1142G>A (p.Arg381His)
|
|
|
NM_000815.5(GABRD):c.1144C>T (p.Arg382Cys)
|
rs1434291863
|
|
NM_000815.5(GABRD):c.1145G>A (p.Arg382His)
|
|
|
NM_000815.5(GABRD):c.1146C>A (p.Arg382=)
|
rs374718450
|
|
NM_000815.5(GABRD):c.1146C>T (p.Arg382=)
|
rs374718450
|
|
NM_000815.5(GABRD):c.1147G>A (p.Val383Ile)
|
|
|
NM_000815.5(GABRD):c.1149C>G (p.Val383=)
|
|
|
NM_000815.5(GABRD):c.1160T>A (p.Leu387Gln)
|
|
|
NM_000815.5(GABRD):c.1170C>T (p.Ser390=)
|
|
|
NM_000815.5(GABRD):c.1174A>G (p.Arg392Gly)
|
rs1553123940
|
|
NM_000815.5(GABRD):c.1183G>C (p.Gly395Arg)
|
rs763081509
|
|
NM_000815.5(GABRD):c.1186G>T (p.Val396Leu)
|
|
|
NM_000815.5(GABRD):c.1194A>C (p.Thr398=)
|
|
|
NM_000815.5(GABRD):c.1195G>A (p.Gly399Arg)
|
rs1571033517
|
|
NM_000815.5(GABRD):c.1202C>G (p.Thr401Arg)
|
rs116604393
|
|
NM_000815.5(GABRD):c.1214G>T (p.Gly405Val)
|
|
|
NM_000815.5(GABRD):c.1218A>G (p.Ala406=)
|
rs1395046821
|
|
NM_000815.5(GABRD):c.1233C>T (p.Gly411=)
|
rs1052967348
|
|
NM_000815.5(GABRD):c.1239G>A (p.Gly413=)
|
|
|
NM_000815.5(GABRD):c.1241G>A (p.Gly414Asp)
|
|
|
NM_000815.5(GABRD):c.1245C>T (p.Ile415=)
|
|
|
NM_000815.5(GABRD):c.1247G>C (p.Arg416Pro)
|
rs1011029441
|
|
NM_000815.5(GABRD):c.1264A>G (p.Ile422Val)
|
|
|
NM_000815.5(GABRD):c.1273G>A (p.Asp425Asn)
|
rs1380198645
|
|
NM_000815.5(GABRD):c.1290C>T (p.Tyr430=)
|
|
|
NM_000815.5(GABRD):c.1294C>G (p.Arg432Gly)
|
rs1002172902
|
|
NM_000815.5(GABRD):c.1294C>T (p.Arg432Cys)
|
rs1002172902
|
|
NM_000815.5(GABRD):c.1295G>A (p.Arg432His)
|
|
|
NM_000815.5(GABRD):c.1300G>A (p.Val434Met)
|
|
|
NM_000815.5(GABRD):c.1307C>T (p.Pro436Leu)
|
|
|
NM_000815.5(GABRD):c.1310C>T (p.Ala437Val)
|
|
|
NM_000815.5(GABRD):c.1319C>T (p.Ala440Val)
|
rs866487320
|
|
NM_000815.5(GABRD):c.1320G>A (p.Ala440=)
|
|
|
NM_000815.5(GABRD):c.1324G>A (p.Val442Ile)
|
rs756881793
|
|
NM_000815.5(GABRD):c.1330G>A (p.Val444Ile)
|
rs1659053261
|
|
NM_000815.5(GABRD):c.1345G>T (p.Ala449Ser)
|
|
|
NM_000815.5(GABRD):c.137G>A (p.Gly46Glu)
|
rs1441811312
|
|
NM_000815.5(GABRD):c.14C>T (p.Ala5Val)
|
|
|
NM_000815.5(GABRD):c.154G>T (p.Ala52Ser)
|
|
|
NM_000815.5(GABRD):c.16C>G (p.Arg6Gly)
|
rs1658714306
|
|
NM_000815.5(GABRD):c.173G>A (p.Gly58Asp)
|
|
|
NM_000815.5(GABRD):c.181+10G>C
|
rs774122718
|
|
NM_000815.5(GABRD):c.181+13C>A
|
|
|
NM_000815.5(GABRD):c.182-12C>A
|
|
|
NM_000815.5(GABRD):c.182-8C>T
|
rs2102147456
|
|
NM_000815.5(GABRD):c.183C>T (p.Gly61=)
|
|
|
NM_000815.5(GABRD):c.186C>A (p.Pro62=)
|
|
|
NM_000815.5(GABRD):c.187C>G (p.Pro63Ala)
|
|
|
NM_000815.5(GABRD):c.189C>A (p.Pro63=)
|
rs771923214
|
|
NM_000815.5(GABRD):c.189C>T (p.Pro63=)
|
|
|
NM_000815.5(GABRD):c.195T>A (p.Asn65Lys)
|
|
|
NM_000815.5(GABRD):c.201C>G (p.Ala67=)
|
|
|
NM_000815.5(GABRD):c.202C>A (p.Leu68Ile)
|
rs1658892135
|
|
NM_000815.5(GABRD):c.21G>T (p.Leu7=)
|
|
|
NM_000815.5(GABRD):c.225C>T (p.Ile75=)
|
|
|
NM_000815.5(GABRD):c.232A>G (p.Ile78Val)
|
|
|
NM_000815.5(GABRD):c.250-14T>G
|
rs1456692553
|
|
NM_000815.5(GABRD):c.250-16T>C
|
|
|
NM_000815.5(GABRD):c.250-1G>A
|
|
|
NM_000815.5(GABRD):c.273G>A (p.Leu91=)
|
|
|
NM_000815.5(GABRD):c.282C>T (p.Ser94=)
|
rs1310692550
|
|
NM_000815.5(GABRD):c.294C>T (p.Ser98=)
|
|
|
NM_000815.5(GABRD):c.30G>A (p.Pro10=)
|
|
|
NM_000815.5(GABRD):c.332T>G (p.Leu111Arg)
|
rs2102147878
|
|
NM_000815.5(GABRD):c.340C>T (p.Arg114Cys)
|
rs1373382584
|
|
NM_000815.5(GABRD):c.345C>T (p.Phe115=)
|
|
|
NM_000815.5(GABRD):c.366C>T (p.Pro122=)
|
|
|
NM_000815.5(GABRD):c.372C>G (p.Thr124=)
|
|
|
NM_000815.5(GABRD):c.379G>A (p.Val127Met)
|
rs562124721
|
|
NM_000815.5(GABRD):c.387C>A (p.Ala129=)
|
rs1277746264
|
|
NM_000815.5(GABRD):c.389A>C (p.Lys130Thr)
|
|
|
NM_000815.5(GABRD):c.392C>T (p.Ser131Leu)
|
rs201306411
|
|
NM_000815.5(GABRD):c.406G>A (p.Asp136Asn)
|
rs1420010820
|
|
NM_000815.5(GABRD):c.430_432dup (p.Ile144_Arg145insIle)
|
|
|
NM_000815.5(GABRD):c.444C>G (p.Pro148=)
|
|
|
NM_000815.5(GABRD):c.450C>T (p.Gly150=)
|
|
|
NM_000815.5(GABRD):c.457C>T (p.Leu153=)
|
|
|
NM_000815.5(GABRD):c.459G>A (p.Leu153=)
|
rs1217947626
|
|
NM_000815.5(GABRD):c.470+10C>G
|
rs760581006
|
|
NM_000815.5(GABRD):c.470+19C>T
|
|
|
NM_000815.5(GABRD):c.477C>T (p.Thr159=)
|
|
|
NM_000815.5(GABRD):c.479C>T (p.Ser160Phe)
|
rs2102150266
|
|
NM_000815.5(GABRD):c.483T>C (p.Thr161=)
|
|
|
NM_000815.5(GABRD):c.49C>A (p.Gln17Lys)
|
|
|
NM_000815.5(GABRD):c.523G>A (p.Glu175Lys)
|
rs1658963820
|
|
NM_000815.5(GABRD):c.543C>T (p.Asp181=)
|
|
|
NM_000815.5(GABRD):c.553+16A>G
|
|
|
NM_000815.5(GABRD):c.553+20G>A
|
|
|
NM_000815.5(GABRD):c.553+9G>T
|
|
|
NM_000815.5(GABRD):c.554-7C>T
|
rs773941254
|
|
NM_000815.5(GABRD):c.556G>A (p.Gly186Ser)
|
|
|
NM_000815.5(GABRD):c.564A>G (p.Ser188=)
|
rs554663245
|
|
NM_000815.5(GABRD):c.567G>A (p.Ser189=)
|
|
|
NM_000815.5(GABRD):c.56T>G (p.Leu19Arg)
|
|
|
NM_000815.5(GABRD):c.574A>G (p.Ile192Val)
|
rs766753329
|
|
NM_000815.5(GABRD):c.591G>A (p.Ser197=)
|
rs756079485
|
|
NM_000815.5(GABRD):c.59G>A (p.Arg20His)
|
|
|
NM_000815.5(GABRD):c.604C>G (p.His202Asp)
|
|
|
NM_000815.5(GABRD):c.60C>G (p.Arg20=)
|
rs1337443605
|
|
NM_000815.5(GABRD):c.60C>T (p.Arg20=)
|
|
|
NM_000815.5(GABRD):c.61G>A (p.Gly21Ser)
|
rs1214046618
|
|
NM_000815.5(GABRD):c.627G>C (p.Leu209=)
|
|
|
NM_000815.5(GABRD):c.636G>A (p.Ala212=)
|
|
|
NM_000815.5(GABRD):c.638A>G (p.Gln213Arg)
|
rs1557447332
|
|
NM_000815.5(GABRD):c.649A>T (p.Thr217Ser)
|
rs1658982650
|
|
NM_000815.5(GABRD):c.64A>G (p.Thr22Ala)
|
|
|
NM_000815.5(GABRD):c.651dup (p.Ser218fs)
|
rs2102151065
|
|
NM_000815.5(GABRD):c.664A>G (p.Thr222Ala)
|
|
|
NM_000815.5(GABRD):c.669G>A (p.Thr223=)
|
rs763261978
|
|
NM_000815.5(GABRD):c.66C>G (p.Thr22=)
|
|
|
NM_000815.5(GABRD):c.67A>G (p.Arg23Gly)
|
|
|
NM_000815.5(GABRD):c.68+20G>A
|
|
|
NM_000815.5(GABRD):c.68+7G>T
|
|
|
NM_000815.5(GABRD):c.69-20C>T
|
|
|
NM_000815.5(GABRD):c.69-6C>A
|
|
|
NM_000815.5(GABRD):c.69-7T>C
|
rs2102146941
|
|
NM_000815.5(GABRD):c.691+13C>T
|
rs544531983
|
|
NM_000815.5(GABRD):c.691+14_691+57dup
|
rs1252094812
|
|
NM_000815.5(GABRD):c.691+19C>A
|
|
|
NM_000815.5(GABRD):c.691+27_691+28insGCGCGCCCGCCGCCCCTTCCGC
|
rs2102151165
|
|
NM_000815.5(GABRD):c.691+27_691+28insGCGCGCCCGCCGCCCCTTCCGCGCGCGCCCGCCGCCCCTTCCGC
|
rs2102151165
|
|
NM_000815.5(GABRD):c.691+28_691+49del
|
|
|
NM_000815.5(GABRD):c.691+28_691+49dup
|
rs769061415
|
|
NM_000815.5(GABRD):c.691+57_691+58insGCCGCCCCTTCCGCGCGCGCCCGCCGCCCCTTCCGCATGTGCCCGCCGCCCCTTCCGCGCGCGCCC
|
|
|
NM_000815.5(GABRD):c.696C>T (p.Gly232=)
|
rs144046110
|
|
NM_000815.5(GABRD):c.718C>T (p.His240Tyr)
|
rs1659011884
|
|
NM_000815.5(GABRD):c.720C>T (p.His240=)
|
|
|
NM_000815.5(GABRD):c.731G>A (p.Arg244Gln)
|
|
|
NM_000815.5(GABRD):c.733A>G (p.Arg245Gly)
|
|
|
NM_000815.5(GABRD):c.739C>T (p.Arg247Cys)
|
|
|
NM_000815.5(GABRD):c.744C>G (p.Gly248=)
|
rs760689938
|
|
NM_000815.5(GABRD):c.747G>A (p.Val249=)
|
rs199993714
|
|
NM_000815.5(GABRD):c.751ATC[1] (p.Ile252del)
|
rs1201664324
|
|
NM_000815.5(GABRD):c.758A>T (p.Gln253Leu)
|
|
|
NM_000815.5(GABRD):c.766A>G (p.Met256Val)
|
|
|
NM_000815.5(GABRD):c.770C>T (p.Pro257Leu)
|
|
|
NM_000815.5(GABRD):c.818A>G (p.Gln273Arg)
|
|
|
NM_000815.5(GABRD):c.819G>C (p.Gln273His)
|
rs1659015905
|
|
NM_000815.5(GABRD):c.81C>T (p.Asp27=)
|
|
|
NM_000815.5(GABRD):c.821C>T (p.Ala274Val)
|
rs749733672
|
|
NM_000815.5(GABRD):c.823G>A (p.Ala275Thr)
|
|
|
NM_000815.5(GABRD):c.825G>A (p.Ala275=)
|
|
|
NM_000815.5(GABRD):c.847+15C>T
|
|
|
NM_000815.5(GABRD):c.847+16G>A
|
|
|
NM_000815.5(GABRD):c.847+4C>T
|
|
|
NM_000815.5(GABRD):c.847+7G>C
|
rs1452430582
|
|
NM_000815.5(GABRD):c.848-17C>T
|
|
|
NM_000815.5(GABRD):c.848-19C>T
|
|
|
NM_000815.5(GABRD):c.848-5G>A
|
|
|
NM_000815.5(GABRD):c.848-9G>A
|
rs1659025020
|
|
NM_000815.5(GABRD):c.858G>A (p.Thr286=)
|
rs372178849
|
|
NM_000815.5(GABRD):c.858G>C (p.Thr286=)
|
rs372178849
|
|
NM_000815.5(GABRD):c.867G>A (p.Thr289=)
|
rs150619024
|
|
NM_000815.5(GABRD):c.869_871del (p.Met290del)
|
|
|
NM_000815.5(GABRD):c.876G>A (p.Thr292=)
|
|
|
NM_000815.5(GABRD):c.88G>A (p.Asp30Asn)
|
rs74786356
|
|
NM_000815.5(GABRD):c.896C>T (p.Ser299Phe)
|
|
|
NM_000815.5(GABRD):c.907C>T (p.Arg303Trp)
|
|
|
NM_000815.5(GABRD):c.909G>A (p.Arg303=)
|
rs2102152967
|
|
NM_000815.5(GABRD):c.909G>T (p.Arg303=)
|
|
|
NM_000815.5(GABRD):c.928C>T (p.Leu310=)
|
rs745961044
|
|
NM_000815.5(GABRD):c.939C>T (p.Tyr313=)
|
|
|
NM_000815.5(GABRD):c.968C>T (p.Ala323Val)
|
|
|
NM_000815.5(GABRD):c.969C>A (p.Ala323=)
|
rs146381127
|
|
NM_000815.5(GABRD):c.985G>A (p.Ala329Thr)
|
|
|
NM_001348946.2(ABCB1):c.2678C>A (p.Ser893Tyr)
|
rs2117129739
|
|
NM_001350451.2(RBFOX3):c.1004G>T (p.Gly335Val)
|
rs2146211667
|
|
NM_001350451.2(RBFOX3):c.1028C>G (p.Pro343Arg)
|
rs1208480613
|
|
NM_001350451.2(RBFOX3):c.1052C>T (p.Ala351Val)
|
|
|
NM_001350451.2(RBFOX3):c.1058C>T (p.Thr353Ile)
|
|
|
NM_001350451.2(RBFOX3):c.1062C>T (p.Tyr354=)
|
|
|
NM_001350451.2(RBFOX3):c.1067T>C (p.Ile356Thr)
|
|
|
NM_001350451.2(RBFOX3):c.1068T>G (p.Ile356Met)
|
rs2074722616
|
|
NM_001350451.2(RBFOX3):c.1077+13G>A
|
|
|
NM_001350451.2(RBFOX3):c.1077+16C>T
|
rs2146209619
|
|
NM_001350451.2(RBFOX3):c.1077+9C>A
|
rs1451910541
|
|
NM_001350451.2(RBFOX3):c.1078-12T>A
|
|
|
NM_001350451.2(RBFOX3):c.110C>A (p.Thr37Asn)
|
|
|
NM_001350451.2(RBFOX3):c.110C>T (p.Thr37Ile)
|
|
|
NM_001350451.2(RBFOX3):c.118C>T (p.Pro40Ser)
|
rs1298625389
|
|
NM_001350451.2(RBFOX3):c.121A>C (p.Thr41Pro)
|
|
|
NM_001350451.2(RBFOX3):c.126G>T (p.Glu42Asp)
|
rs1412372562
|
|
NM_001350451.2(RBFOX3):c.128A>G (p.His43Arg)
|
|
|
NM_001350451.2(RBFOX3):c.139C>T (p.Leu47=)
|
rs2033680072
|
|
NM_001350451.2(RBFOX3):c.145A>G (p.Thr49Ala)
|
|
|
NM_001350451.2(RBFOX3):c.164C>G (p.Pro55Arg)
|
rs2146997386
|
|
NM_001350451.2(RBFOX3):c.164C>T (p.Pro55Leu)
|
|
|
NM_001350451.2(RBFOX3):c.201C>T (p.Ile67=)
|
rs2146996449
|
|
NM_001350451.2(RBFOX3):c.202G>A (p.Ala68Thr)
|
rs557599713
|
|
NM_001350451.2(RBFOX3):c.205G>C (p.Gly69Arg)
|
|
|
NM_001350451.2(RBFOX3):c.20C>T (p.Pro7Leu)
|
rs2033733857
|
|
NM_001350451.2(RBFOX3):c.215C>G (p.Thr72Arg)
|
rs1372121041
|
|
NM_001350451.2(RBFOX3):c.217G>A (p.Val73Met)
|
|
|
NM_001350451.2(RBFOX3):c.21C>A (p.Pro7=)
|
rs751793355
|
|
NM_001350451.2(RBFOX3):c.21C>G (p.Pro7=)
|
rs751793355
|
|
NM_001350451.2(RBFOX3):c.21C>T (p.Pro7=)
|
rs751793355
|
|
NM_001350451.2(RBFOX3):c.222+13A>G
|
|
|
NM_001350451.2(RBFOX3):c.222+5G>A
|
|
|
NM_001350451.2(RBFOX3):c.222G>A (p.Pro74=)
|
rs1037097785
|
|
NM_001350451.2(RBFOX3):c.222G>C (p.Pro74=)
|
rs1037097785
|
|
NM_001350451.2(RBFOX3):c.223-17C>T
|
rs761056905
|
|
NM_001350451.2(RBFOX3):c.223-9_223-8del
|
|
|
NM_001350451.2(RBFOX3):c.223-9del
|
|
|
NM_001350451.2(RBFOX3):c.254A>C (p.Gln85Pro)
|
rs2146665255
|
|
NM_001350451.2(RBFOX3):c.255G>A (p.Gln85=)
|
rs1213853848
|
|
NM_001350451.2(RBFOX3):c.258G>A (p.Pro86=)
|
|
|
NM_001350451.2(RBFOX3):c.263A>T (p.His88Leu)
|
|
|
NM_001350451.2(RBFOX3):c.273C>A (p.Asp91Glu)
|
rs1599450000
|
|
NM_001350451.2(RBFOX3):c.307G>A (p.Val103Ile)
|
rs1465377886
|
|
NM_001350451.2(RBFOX3):c.30C>T (p.Tyr10=)
|
rs1555694660
|
|
NM_001350451.2(RBFOX3):c.326G>A (p.Arg109Gln)
|
|
|
NM_001350451.2(RBFOX3):c.33C>G (p.Pro11=)
|
rs530721444
|
|
NM_001350451.2(RBFOX3):c.342C>T (p.Asp114=)
|
rs2146662664
|
|
NM_001350451.2(RBFOX3):c.35C>T (p.Pro12Leu)
|
rs1403085500
|
|
NM_001350451.2(RBFOX3):c.35dup (p.Pro13fs)
|
|
|
NM_001350451.2(RBFOX3):c.360+13G>A
|
|
|
NM_001350451.2(RBFOX3):c.361-10del
|
rs2146564382
|
|
NM_001350451.2(RBFOX3):c.361-18_361-17del
|
rs2076947605
|
|
NM_001350451.2(RBFOX3):c.361-20C>G
|
|
|
NM_001350451.2(RBFOX3):c.361-8_361-3del
|
|
|
NM_001350451.2(RBFOX3):c.378A>C (p.Leu126Phe)
|
|
|
NM_001350451.2(RBFOX3):c.381C>T (p.Asp127=)
|
|
|
NM_001350451.2(RBFOX3):c.38C>G (p.Pro13Arg)
|
rs1226535060
|
|
NM_001350451.2(RBFOX3):c.38C>T (p.Pro13Leu)
|
rs1226535060
|
|
NM_001350451.2(RBFOX3):c.399C>T (p.Asn133=)
|
|
|
NM_001350451.2(RBFOX3):c.404G>A (p.Arg135Gln)
|
rs2076940658
|
|
NM_001350451.2(RBFOX3):c.414+12A>C
|
|
|
NM_001350451.2(RBFOX3):c.414+14G>A
|
|
|
NM_001350451.2(RBFOX3):c.414+17G>A
|
|
|
NM_001350451.2(RBFOX3):c.414G>C (p.Lys138Asn)
|
rs1568134061
|
|
NM_001350451.2(RBFOX3):c.435T>C (p.Phe145=)
|
rs754135050
|
|
NM_001350451.2(RBFOX3):c.453T>A (p.Ala151=)
|
rs2146531567
|
|
NM_001350451.2(RBFOX3):c.457C>G (p.Arg153Gly)
|
|
|
NM_001350451.2(RBFOX3):c.465G>A (p.Arg155=)
|
|
|
NM_001350451.2(RBFOX3):c.49G>A (p.Gly17Ser)
|
|
|
NM_001350451.2(RBFOX3):c.522G>A (p.Thr174=)
|
rs776142495
|
|
NM_001350451.2(RBFOX3):c.542AGA[1] (p.Lys182del)
|
rs1568129070
|
|
NM_001350451.2(RBFOX3):c.54C>G (p.Ile18Met)
|
rs2033713868
|
|
NM_001350451.2(RBFOX3):c.552G>A (p.Gly184=)
|
|
|
NM_001350451.2(RBFOX3):c.556C>A (p.Pro186Thr)
|
rs372072435
|
|
NM_001350451.2(RBFOX3):c.562A>G (p.Thr188Ala)
|
|
|
NM_001350451.2(RBFOX3):c.568+16C>A
|
|
|
NM_001350451.2(RBFOX3):c.568+16_568+17insT
|
|
|
NM_001350451.2(RBFOX3):c.568+18C>T
|
|
|
NM_001350451.2(RBFOX3):c.568+5G>C
|
|
|
NM_001350451.2(RBFOX3):c.568+6G>A
|
|
|
NM_001350451.2(RBFOX3):c.568+8G>T
|
rs2076444289
|
|
NM_001350451.2(RBFOX3):c.593G>A (p.Gly198Asp)
|
|
|
NM_001350451.2(RBFOX3):c.602A>G (p.Tyr201Cys)
|
|
|
NM_001350451.2(RBFOX3):c.604G>A (p.Gly202Arg)
|
rs775017222
|
|
NM_001350451.2(RBFOX3):c.617A>G (p.Tyr206Cys)
|
|
|
NM_001350451.2(RBFOX3):c.622+14C>A
|
rs1028999714
|
|
NM_001350451.2(RBFOX3):c.622+18G>A
|
|
|
NM_001350451.2(RBFOX3):c.622+3dup
|
rs1351338220
|
|
NM_001350451.2(RBFOX3):c.623-13C>T
|
|
|
NM_001350451.2(RBFOX3):c.623-17G>A
|
|
|
NM_001350451.2(RBFOX3):c.623-6C>T
|
|
|
NM_001350451.2(RBFOX3):c.623-7C>T
|
rs2075546067
|
|
NM_001350451.2(RBFOX3):c.638A>G (p.Tyr213Cys)
|
|
|
NM_001350451.2(RBFOX3):c.645C>T (p.Thr215=)
|
rs1201014995
|
|
NM_001350451.2(RBFOX3):c.648C>G (p.Thr216=)
|
rs1222831726
|
|
NM_001350451.2(RBFOX3):c.648C>T (p.Thr216=)
|
|
|
NM_001350451.2(RBFOX3):c.657C>A (p.Ala219=)
|
rs925521413
|
|
NM_001350451.2(RBFOX3):c.661G>C (p.Ala221Pro)
|
rs2146313081
|
|
NM_001350451.2(RBFOX3):c.668G>C (p.Arg223Pro)
|
|
|
NM_001350451.2(RBFOX3):c.676C>A (p.His226Asn)
|
rs2146312862
|
|
NM_001350451.2(RBFOX3):c.679C>A (p.Leu227Ile)
|
rs565220696
|
|
NM_001350451.2(RBFOX3):c.679C>G (p.Leu227Val)
|
|
|
NM_001350451.2(RBFOX3):c.686GCCGGG[3] (p.Arg232_Ala233insGlyArg)
|
|
|
NM_001350451.2(RBFOX3):c.687C>T (p.Gly229=)
|
rs1227562251
|
|
NM_001350451.2(RBFOX3):c.68C>T (p.Ala23Val)
|
rs878854171
|
|
NM_001350451.2(RBFOX3):c.696G>C (p.Arg232=)
|
rs1444545956
|
|
NM_001350451.2(RBFOX3):c.699C>G (p.Ala233=)
|
rs758656116
|
|
NM_001350451.2(RBFOX3):c.714T>G (p.Phe238Leu)
|
rs1599396290
|
|
NM_001350451.2(RBFOX3):c.72G>T (p.Pro24=)
|
rs776796401
|
|
NM_001350451.2(RBFOX3):c.733C>T (p.Pro245Ser)
|
rs1204664048
|
|
NM_001350451.2(RBFOX3):c.738C>A (p.Pro246=)
|
|
|
NM_001350451.2(RBFOX3):c.73C>T (p.Pro25Ser)
|
rs2146999516
|
|
NM_001350451.2(RBFOX3):c.743_750dup (p.Gly251fs)
|
|
|
NM_001350451.2(RBFOX3):c.749dup (p.Tyr250Ter)
|
|
|
NM_001350451.2(RBFOX3):c.755+14C>T
|
rs2075511936
|
|
NM_001350451.2(RBFOX3):c.755+9C>T
|
|
|
NM_001350451.2(RBFOX3):c.755C>A (p.Ala252Glu)
|
|
|
NM_001350451.2(RBFOX3):c.87C>T (p.Pro29=)
|
|
|
NM_001350451.2(RBFOX3):c.8A>G (p.Gln3Arg)
|
|
|
NM_001350451.2(RBFOX3):c.901G>C (p.Val301Leu)
|
|
|
NM_001350451.2(RBFOX3):c.901G>T (p.Val301Leu)
|
|
|
NM_001350451.2(RBFOX3):c.90G>A (p.Thr30=)
|
rs955676022
|
|
NM_001350451.2(RBFOX3):c.90G>T (p.Thr30=)
|
rs955676022
|
|
NM_001350451.2(RBFOX3):c.928G>A (p.Glu310Lys)
|
rs2075332971
|
|
NM_001350451.2(RBFOX3):c.936+14C>A
|
rs1459023595
|
|
NM_001350451.2(RBFOX3):c.936+15G>A
|
rs377444179
|
|
NM_001350451.2(RBFOX3):c.936+15G>C
|
|
|
NM_001350451.2(RBFOX3):c.936+17C>T
|
|
|
NM_001350451.2(RBFOX3):c.936+18G>A
|
|
|
NM_001350451.2(RBFOX3):c.936+18G>T
|
rs1196792536
|
|
NM_001350451.2(RBFOX3):c.936+2del
|
rs2146289066
|
|
NM_001350451.2(RBFOX3):c.937-10T>C
|
rs1599386357
|
|
NM_001350451.2(RBFOX3):c.937-17_937-15del
|
|
|
NM_001350451.2(RBFOX3):c.937-19C>T
|
rs2146255373
|
|
NM_001350451.2(RBFOX3):c.946G>C (p.Ala316Pro)
|
rs1440844625
|
|
NM_001350451.2(RBFOX3):c.949G>A (p.Ala317Thr)
|
rs2146254444
|
|
NM_001350451.2(RBFOX3):c.956G>C (p.Arg319Thr)
|
rs2146254285
|
|
NM_001350451.2(RBFOX3):c.961G>A (p.Ala321Thr)
|
|
|
NM_001350451.2(RBFOX3):c.977C>T (p.Ala326Val)
|
|
|
NM_001350451.2(RBFOX3):c.978G>A (p.Ala326=)
|
rs780865169
|
|
NM_001350451.2(RBFOX3):c.980C>T (p.Ala327Val)
|
|
|
NM_001350451.2(RBFOX3):c.981G>A (p.Ala327=)
|
rs754425963
|
|
NM_001350451.2(RBFOX3):c.993C>T (p.Ser331=)
|
rs551189632
|
|
NM_001350451.2(RBFOX3):c.998+8C>G
|
rs985551378
|
|
NM_001350451.2(RBFOX3):c.998+8C>T
|
rs985551378
|
|
NM_001350451.2(RBFOX3):c.998+9G>A
|
rs79080598
|
|
NM_001350451.2(RBFOX3):c.999-19C>G
|
|
|
NM_001350451.2(RBFOX3):c.999-20C>G
|
|
|
NM_001350451.2(RBFOX3):c.999-24_999-13dup
|
rs2146212338
|
|
NM_001350451.2(RBFOX3):c.999-39_999-15del
|
|
|
NM_001350451.2(RBFOX3):c.999-9C>G
|
rs1311373046
|
|
NM_018723.4(RBFOX1):c.1003C>T (p.Arg335Ter)
|
rs1312108862
|
|
NM_018723.4(RBFOX1):c.1016C>A (p.Ala339Asp)
|
rs1465514323
|
|
NM_018723.4(RBFOX1):c.1016C>T (p.Ala339Val)
|
|
|
NM_018723.4(RBFOX1):c.1033G>A (p.Ala345Thr)
|
rs150941982
|
|
NM_018723.4(RBFOX1):c.1033G>C (p.Ala345Pro)
|
rs150941982
|
|
NM_018723.4(RBFOX1):c.103A>G (p.Asn35Asp)
|
|
|
NM_018723.4(RBFOX1):c.1040C>T (p.Ala347Val)
|
rs1555812114
|
|
NM_018723.4(RBFOX1):c.1042C>A (p.Pro348Thr)
|
|
|
NM_018723.4(RBFOX1):c.1046C>A (p.Ala349Asp)
|
rs2083432188
|
|
NM_018723.4(RBFOX1):c.1048C>T (p.Pro350Ser)
|
|
|
NM_018723.4(RBFOX1):c.104A>G (p.Asn35Ser)
|
|
|
NM_018723.4(RBFOX1):c.104_105delinsCG (p.Asn35Thr)
|
|
|
NM_018723.4(RBFOX1):c.1058_1060del (p.Gly353del)
|
rs774848304
|
|
NM_018723.4(RBFOX1):c.105C>T (p.Asn35=)
|
|
|
NM_018723.4(RBFOX1):c.1060G>A (p.Val354Ile)
|
rs138704494
|
|
NM_018723.4(RBFOX1):c.1060G>C (p.Val354Leu)
|
|
|
NM_018723.4(RBFOX1):c.1060G>T (p.Val354Phe)
|
rs138704494
|
|
NM_018723.4(RBFOX1):c.1062T>C (p.Val354=)
|
|
|
NM_018723.4(RBFOX1):c.1071+11G>A
|
rs191016584
|
|
NM_018723.4(RBFOX1):c.1071+11G>C
|
rs191016584
|
|
NM_018723.4(RBFOX1):c.1071+17C>G
|
|
|
NM_018723.4(RBFOX1):c.1071+18C>G
|
rs751549203
|
|
NM_018723.4(RBFOX1):c.1071+5G>T
|
rs1387824991
|
|
NM_018723.4(RBFOX1):c.1072-2A>G
|
|
|
NM_018723.4(RBFOX1):c.1084C>T (p.Pro362Ser)
|
|
|
NM_018723.4(RBFOX1):c.1089G>A (p.Leu363=)
|
|
|
NM_018723.4(RBFOX1):c.1089G>C (p.Leu363Phe)
|
rs776822373
|
|
NM_018723.4(RBFOX1):c.109A>G (p.Ile37Val)
|
rs781321986
|
|
NM_018723.4(RBFOX1):c.1101G>C (p.Lys367Asn)
|
|
|
NM_018723.4(RBFOX1):c.1146G>A (p.Leu382=)
|
rs756984329
|
|
NM_018723.4(RBFOX1):c.114C>A (p.Pro38=)
|
rs376877653
|
|
NM_018723.4(RBFOX1):c.114C>G (p.Pro38=)
|
rs376877653
|
|
NM_018723.4(RBFOX1):c.1151C>A (p.Ala384Asp)
|
|
|
NM_018723.4(RBFOX1):c.1162C>T (p.Arg388Ter)
|
rs780406377
|
|
NM_018723.4(RBFOX1):c.1163G>A (p.Arg388Gln)
|
|
|
NM_018723.4(RBFOX1):c.1194A>G (p.Ter398=)
|
rs2148629483
|
|
NM_018723.4(RBFOX1):c.124A>C (p.Thr42Pro)
|
|
|
NM_018723.4(RBFOX1):c.124A>G (p.Thr42Ala)
|
|
|
NM_018723.4(RBFOX1):c.125C>G (p.Thr42Arg)
|
rs146499343
|
|
NM_018723.4(RBFOX1):c.127G>T (p.Ala43Ser)
|
|
|
NM_018723.4(RBFOX1):c.132T>A (p.Pro44=)
|
rs1263847911
|
|
NM_018723.4(RBFOX1):c.137C>T (p.Pro46Leu)
|
rs113298071
|
|
NM_018723.4(RBFOX1):c.158C>G (p.Thr53Arg)
|
rs1600686165
|
|
NM_018723.4(RBFOX1):c.166A>G (p.Thr56Ala)
|
|
|
NM_018723.4(RBFOX1):c.171G>A (p.Thr57=)
|
|
|
NM_018723.4(RBFOX1):c.182A>C (p.His61Pro)
|
rs1037124321
|
|
NM_018723.4(RBFOX1):c.185C>T (p.Thr62Ile)
|
|
|
NM_018723.4(RBFOX1):c.196T>C (p.Tyr66His)
|
rs1600687118
|
|
NM_018723.4(RBFOX1):c.199C>T (p.Pro67Ser)
|
rs143573994
|
|
NM_018723.4(RBFOX1):c.201T>A (p.Pro67=)
|
rs757485949
|
|
NM_018723.4(RBFOX1):c.204C>T (p.Pro68=)
|
|
|
NM_018723.4(RBFOX1):c.205G>A (p.Ala69Thr)
|
|
|
NM_018723.4(RBFOX1):c.206C>G (p.Ala69Gly)
|
|
|
NM_018723.4(RBFOX1):c.210G>A (p.Gln70=)
|
rs2076811567
|
|
NM_018723.4(RBFOX1):c.210G>T (p.Gln70His)
|
rs2076811567
|
|
NM_018723.4(RBFOX1):c.219C>A (p.Ser73=)
|
|
|
NM_018723.4(RBFOX1):c.224A>C (p.Gln75Pro)
|
rs2152189230
|
|
NM_018723.4(RBFOX1):c.230C>T (p.Pro77Leu)
|
|
|
NM_018723.4(RBFOX1):c.232G>T (p.Ala78Ser)
|
|
|
NM_018723.4(RBFOX1):c.233C>G (p.Ala78Gly)
|
rs761205127
|
|
NM_018723.4(RBFOX1):c.234G>A (p.Ala78=)
|
|
|
NM_018723.4(RBFOX1):c.235G>C (p.Asp79His)
|
rs764702003
|
|
NM_018723.4(RBFOX1):c.238A>G (p.Thr80Ala)
|
|
|
NM_018723.4(RBFOX1):c.240G>A (p.Thr80=)
|
|
|
NM_018723.4(RBFOX1):c.245C>T (p.Ala82Val)
|
rs780839692
|
|
NM_018723.4(RBFOX1):c.252C>A (p.Thr84=)
|
rs752506752
|
|
NM_018723.4(RBFOX1):c.257C>G (p.Ser86Cys)
|
rs2152190628
|
|
NM_018723.4(RBFOX1):c.257C>T (p.Ser86Phe)
|
|
|
NM_018723.4(RBFOX1):c.265G>A (p.Ala89Thr)
|
|
|
NM_018723.4(RBFOX1):c.270+10C>T
|
rs113881725
|
|
NM_018723.4(RBFOX1):c.270+11G>A
|
|
|
NM_018723.4(RBFOX1):c.270+11G>T
|
rs371402357
|
|
NM_018723.4(RBFOX1):c.270+19_270+22dup
|
|
|
NM_018723.4(RBFOX1):c.270+20A>G
|
|
|
NM_018723.4(RBFOX1):c.270+5G>T
|
rs2076823058
|
|
NM_018723.4(RBFOX1):c.270+8G>A
|
|
|
NM_018723.4(RBFOX1):c.271-100_271-11del
|
|
|
NM_018723.4(RBFOX1):c.271-13C>T
|
|
|
NM_018723.4(RBFOX1):c.28-10G>T
|
|
|
NM_018723.4(RBFOX1):c.28-11del
|
|
|
NM_018723.4(RBFOX1):c.28-185041C>A
|
|
|
NM_018723.4(RBFOX1):c.28-185043T>C
|
|
|
NM_018723.4(RBFOX1):c.28-185043_28-185040del
|
rs767678711
|
|
NM_018723.4(RBFOX1):c.28-185051A>T
|
|
|
NM_018723.4(RBFOX1):c.28-20G>T
|
|
|
NM_018723.4(RBFOX1):c.28-3C>T
|
rs2076775196
|
|
NM_018723.4(RBFOX1):c.285A>G (p.Ala95=)
|
rs754737409
|
|
NM_018723.4(RBFOX1):c.289C>G (p.Pro97Ala)
|
|
|
NM_018723.4(RBFOX1):c.290C>A (p.Pro97Gln)
|
|
|
NM_018723.4(RBFOX1):c.294G>A (p.Thr98=)
|
|
|
NM_018723.4(RBFOX1):c.295G>A (p.Asp99Asn)
|
|
|
NM_018723.4(RBFOX1):c.297T>C (p.Asp99=)
|
|
|
NM_018723.4(RBFOX1):c.30_37del (p.Asn11fs)
|
|
|
NM_018723.4(RBFOX1):c.311C>G (p.Thr104Arg)
|
|
|
NM_018723.4(RBFOX1):c.327C>T (p.Asn109=)
|
|
|
NM_018723.4(RBFOX1):c.339G>A (p.Lys113=)
|
rs760846272
|
|
NM_018723.4(RBFOX1):c.347C>T (p.Pro116Leu)
|
rs905562885
|
|
NM_018723.4(RBFOX1):c.353G>A (p.Arg118Gln)
|
rs1057521725
|
|
NM_018723.4(RBFOX1):c.357G>C (p.Leu119=)
|
rs751076623
|
|
NM_018723.4(RBFOX1):c.386G>A (p.Arg129Gln)
|
|
|
NM_018723.4(RBFOX1):c.396C>A (p.Asp132Glu)
|
rs1242620682
|
|
NM_018723.4(RBFOX1):c.400A>T (p.Arg134Ter)
|
|
|
NM_018723.4(RBFOX1):c.413G>C (p.Gly138Ala)
|
rs747242541
|
|
NM_018723.4(RBFOX1):c.414+16C>A
|
|
|
NM_018723.4(RBFOX1):c.414+20C>G
|
|
|
NM_018723.4(RBFOX1):c.414+5G>A
|
rs2152836590
|
|
NM_018723.4(RBFOX1):c.415-14C>A
|
rs766827645
|
|
NM_018723.4(RBFOX1):c.415-14C>T
|
rs766827645
|
|
NM_018723.4(RBFOX1):c.415-19T>C
|
|
|
NM_018723.4(RBFOX1):c.415-20A>G
|
|
|
NM_018723.4(RBFOX1):c.415-20A>T
|
rs1327343028
|
|
NM_018723.4(RBFOX1):c.424A>G (p.Lys142Glu)
|
|
|
NM_018723.4(RBFOX1):c.427A>G (p.Ile143Val)
|
|
|
NM_018723.4(RBFOX1):c.456G>A (p.Glu152=)
|
rs1478825837
|
|
NM_018723.4(RBFOX1):c.45C>T (p.Ala15=)
|
rs1351528483
|
|
NM_018723.4(RBFOX1):c.460G>C (p.Gly154Arg)
|
rs2094181320
|
|
NM_018723.4(RBFOX1):c.468+10_468+11del
|
rs768579064
|
|
NM_018723.4(RBFOX1):c.468+18C>G
|
|
|
NM_018723.4(RBFOX1):c.469-17C>T
|
rs2152948167
|
|
NM_018723.4(RBFOX1):c.469-8G>A
|
rs763792559
|
|
NM_018723.4(RBFOX1):c.469G>A (p.Gly157Arg)
|
|
|
NM_018723.4(RBFOX1):c.47C>T (p.Ala16Val)
|
rs750798420
|
|
NM_018723.4(RBFOX1):c.481G>A (p.Val161Ile)
|
|
|
NM_018723.4(RBFOX1):c.490G>T (p.Glu164Ter)
|
rs2094642630
|
|
NM_018723.4(RBFOX1):c.499G>A (p.Ala167Thr)
|
rs2094642843
|
|
NM_018723.4(RBFOX1):c.501C>T (p.Ala167=)
|
|
|
NM_018723.4(RBFOX1):c.507G>C (p.Ala169=)
|
rs763250831
|
|
NM_018723.4(RBFOX1):c.51C>A (p.Ala17=)
|
rs139265655
|
|
NM_018723.4(RBFOX1):c.522G>C (p.Glu174Asp)
|
rs760159651
|
|
NM_018723.4(RBFOX1):c.531C>T (p.His177=)
|
rs1193035983
|
|
NM_018723.4(RBFOX1):c.537C>G (p.Thr179=)
|
rs756360831
|
|
NM_018723.4(RBFOX1):c.543A>G (p.Val181=)
|
rs2152948676
|
|
NM_018723.4(RBFOX1):c.55G>A (p.Asp19Asn)
|
|
|
NM_018723.4(RBFOX1):c.562-15T>A
|
|
|
NM_018723.4(RBFOX1):c.562-17G>C
|
|
|
NM_018723.4(RBFOX1):c.562-8G>T
|
rs1283928972
|
|
NM_018723.4(RBFOX1):c.562-9T>C
|
rs1555648980
|
|
NM_018723.4(RBFOX1):c.573C>T (p.Ala191=)
|
|
|
NM_018723.4(RBFOX1):c.584T>C (p.Val195Ala)
|
rs2152958287
|
|
NM_018723.4(RBFOX1):c.585A>T (p.Val195=)
|
rs368983711
|
|
NM_018723.4(RBFOX1):c.588G>C (p.Met196Ile)
|
|
|
NM_018723.4(RBFOX1):c.594_597del (p.Asn198fs)
|
rs2094760665
|
|
NM_018723.4(RBFOX1):c.597A>C (p.Lys199Asn)
|
rs2152958333
|
|
NM_018723.4(RBFOX1):c.610C>G (p.Pro204Ala)
|
rs1360100229
|
|
NM_018723.4(RBFOX1):c.613dup (p.Tyr205fs)
|
|
|
NM_018723.4(RBFOX1):c.618A>G (p.Thr206=)
|
|
|
NM_018723.4(RBFOX1):c.622+11A>T
|
|
|
NM_018723.4(RBFOX1):c.622+3_622+4del
|
|
|
NM_018723.4(RBFOX1):c.622+4A>G
|
|
|
NM_018723.4(RBFOX1):c.622+5G>T
|
|
|
NM_018723.4(RBFOX1):c.623-16G>T
|
|
|
NM_018723.4(RBFOX1):c.629A>G (p.Lys210Arg)
|
rs2095316869
|
|
NM_018723.4(RBFOX1):c.639A>G (p.Pro213=)
|
rs1389267525
|
|
NM_018723.4(RBFOX1):c.640G>A (p.Val214Ile)
|
rs372085042
|
|
NM_018723.4(RBFOX1):c.676+1G>T
|
rs2141262938
|
|
NM_018723.4(RBFOX1):c.676+4_676+5del
|
|
|
NM_018723.4(RBFOX1):c.676+7_676+8del
|
|
|
NM_018723.4(RBFOX1):c.677-13C>T
|
rs777768764
|
|
NM_018723.4(RBFOX1):c.677-20TC[5]
|
|
|
NM_018723.4(RBFOX1):c.677-4G>T
|
rs759738790
|
|
NM_018723.4(RBFOX1):c.677-9C>G
|
|
|
NM_018723.4(RBFOX1):c.680C>T (p.Thr227Met)
|
rs145006582
|
|
NM_018723.4(RBFOX1):c.687G>A (p.Leu229=)
|
rs2060799020
|
|
NM_018723.4(RBFOX1):c.724A>G (p.Ser242Gly)
|
|
|
NM_018723.4(RBFOX1):c.728C>G (p.Ala243Gly)
|
|
|
NM_018723.4(RBFOX1):c.72T>A (p.Pro24=)
|
rs1555542676
|
|
NM_018723.4(RBFOX1):c.742G>C (p.Val248Leu)
|
rs757319815
|
|
NM_018723.4(RBFOX1):c.757+14C>G
|
|
|
NM_018723.4(RBFOX1):c.757+19C>G
|
|
|
NM_018723.4(RBFOX1):c.757+6C>A
|
rs1435955739
|
|
NM_018723.4(RBFOX1):c.758-10T>C
|
rs2144803234
|
|
NM_018723.4(RBFOX1):c.758-12C>G
|
|
|
NM_018723.4(RBFOX1):c.758-14_758-10del
|
rs2144802781
|
|
NM_018723.4(RBFOX1):c.758-15_758-14insTCCC
|
|
|
NM_018723.4(RBFOX1):c.758-18_758-17insGT
|
|
|
NM_018723.4(RBFOX1):c.758-19_758-18insGC
|
rs772354139
|
|
NM_018723.4(RBFOX1):c.758-4G>A
|
rs112339093
|
|
NM_018723.4(RBFOX1):c.758-4G>T
|
rs112339093
|
|
NM_018723.4(RBFOX1):c.758-5C>G
|
|
|
NM_018723.4(RBFOX1):c.758-5C>T
|
rs368263619
|
|
NM_018723.4(RBFOX1):c.758-5_758-4delinsTT
|
rs1060504699
|
|
NM_018723.4(RBFOX1):c.758-6C>T
|
|
|
NM_018723.4(RBFOX1):c.758-9G>T
|
rs2065660205
|
|
NM_018723.4(RBFOX1):c.770C>G (p.Pro257Arg)
|
|
|
NM_018723.4(RBFOX1):c.786C>G (p.Thr262=)
|
rs755253534
|
|
NM_018723.4(RBFOX1):c.786C>T (p.Thr262=)
|
|
|
NM_018723.4(RBFOX1):c.787G>A (p.Ala263Thr)
|
|
|
NM_018723.4(RBFOX1):c.790G>A (p.Ala264Thr)
|
|
|
NM_018723.4(RBFOX1):c.804A>T (p.Arg268=)
|
|
|
NM_018723.4(RBFOX1):c.810G>A (p.Ala270=)
|
|
|
NM_018723.4(RBFOX1):c.816G>A (p.Leu272=)
|
|
|
NM_018723.4(RBFOX1):c.819A>T (p.Arg273=)
|
|
|
NM_018723.4(RBFOX1):c.823C>T (p.Arg275Cys)
|
|
|
NM_018723.4(RBFOX1):c.828_859del (p.Arg277fs)
|
rs2144810454
|
|
NM_018723.4(RBFOX1):c.829C>T (p.Arg277Cys)
|
rs1189994954
|
|
NM_018723.4(RBFOX1):c.833C>T (p.Thr278Ile)
|
rs2065679298
|
|
NM_018723.4(RBFOX1):c.835G>A (p.Val279Met)
|
|
|
NM_018723.4(RBFOX1):c.839A>G (p.Tyr280Cys)
|
rs2144812486
|
|
NM_018723.4(RBFOX1):c.853G>A (p.Ala285Thr)
|
rs544967209
|
|
NM_018723.4(RBFOX1):c.853G>T (p.Ala285Ser)
|
|
|
NM_018723.4(RBFOX1):c.855C>T (p.Ala285=)
|
|
|
NM_018723.4(RBFOX1):c.858G>A (p.Ala286=)
|
rs1060504700
|
|
NM_018723.4(RBFOX1):c.866C>T (p.Pro289Leu)
|
|
|
NM_018723.4(RBFOX1):c.870C>T (p.Pro290=)
|
|
|
NM_018723.4(RBFOX1):c.871C>T (p.Pro291Ser)
|
rs768195911
|
|
NM_018723.4(RBFOX1):c.872C>T (p.Pro291Leu)
|
|
|
NM_018723.4(RBFOX1):c.876C>G (p.Ile292Met)
|
rs997305923
|
|
NM_018723.4(RBFOX1):c.876C>T (p.Ile292=)
|
|
|
NM_018723.4(RBFOX1):c.878C>A (p.Pro293Gln)
|
rs1157311700
|
|
NM_018723.4(RBFOX1):c.879G>A (p.Pro293=)
|
rs200006523
|
|
NM_018723.4(RBFOX1):c.879G>C (p.Pro293=)
|
rs200006523
|
|
NM_018723.4(RBFOX1):c.890+15C>G
|
|
|
NM_018723.4(RBFOX1):c.890+15C>T
|
|
|
NM_018723.4(RBFOX1):c.890+20G>T
|
|
|
NM_018723.4(RBFOX1):c.890+8G>C
|
|
|
NM_018723.4(RBFOX1):c.92C>A (p.Ala31Asp)
|
rs761469568
|
|
NM_018723.4(RBFOX1):c.931-12C>T
|
|
|
NM_018723.4(RBFOX1):c.931-18T>C
|
|
|
NM_018723.4(RBFOX1):c.931-20_931-19inv
|
|
|
NM_018723.4(RBFOX1):c.931-3T>C
|
rs1597853857
|
|
NM_018723.4(RBFOX1):c.931-5160C>A
|
|
|
NM_018723.4(RBFOX1):c.931-5161A>G
|
rs750150151
|
|
NM_018723.4(RBFOX1):c.931-5163C>G
|
rs756935023
|
|
NM_018723.4(RBFOX1):c.931-5170G>A
|
rs763604762
|
|
NM_018723.4(RBFOX1):c.931-5221A>G
|
|
|
NM_018723.4(RBFOX1):c.931-5226T>A
|
rs768777551
|
|
NM_018723.4(RBFOX1):c.931-5226T>G
|
|
|
NM_018723.4(RBFOX1):c.931-8T>C
|
|
|
NM_018723.4(RBFOX1):c.933T>C (p.Gly311=)
|
|
|
NM_018723.4(RBFOX1):c.934G>T (p.Gly312Cys)
|
rs2073403458
|
|
NM_018723.4(RBFOX1):c.940G>A (p.Ala314Thr)
|
|
|
NM_018723.4(RBFOX1):c.944C>T (p.Ala315Val)
|
|
|
NM_018723.4(RBFOX1):c.948C>G (p.Tyr316Ter)
|
|
|
NM_018723.4(RBFOX1):c.949C>T (p.Arg317Cys)
|
rs2146426013
|
|
NM_018723.4(RBFOX1):c.954C>G (p.Tyr318Ter)
|
|
|
NM_018723.4(RBFOX1):c.955G>T (p.Ala319Ser)
|
rs199644500
|
|
NM_018723.4(RBFOX1):c.964_969del (p.Thr322_Pro323del)
|
rs2146427156
|
|
NM_018723.4(RBFOX1):c.973A>G (p.Thr325Ala)
|
|
|
NM_018723.4(RBFOX1):c.978C>A (p.Ala326=)
|
rs146803665
|
|
NM_018723.4(RBFOX1):c.978C>T (p.Ala326=)
|
rs146803665
|
|
NM_018723.4(RBFOX1):c.979_984del (p.Ala327_Ala328del)
|
rs974157467
|
|
NM_018723.4(RBFOX1):c.984C>T (p.Ala328=)
|
rs1312874997
|
|
NM_018723.4(RBFOX1):c.988A>G (p.Ser330Gly)
|
|
|
NM_018723.4(RBFOX1):c.995+16C>T
|
|
|
NM_018723.4(RBFOX1):c.995+2T>A
|
rs1597855236
|
|
NM_018723.4(RBFOX1):c.996-13A>G
|
|
|
NM_018723.4(RBFOX1):c.996-14T>G
|
|
|
NM_018723.4(RBFOX1):c.996-15C>G
|
|
|
NM_018723.4(RBFOX1):c.996-18C>T
|
|
|
NM_018723.4(RBFOX1):c.99G>A (p.Pro33=)
|
|
|
NM_032119.4(ADGRV1):c.17195C>T (p.Pro5732Leu)
|
rs2150388869
|
|
NM_032119.4(ADGRV1):c.3509A>C (p.Tyr1170Ser)
|
rs188772875
|
|
NM_145893.3(RBFOX1):c.18A>T (p.Gly6=)
|
|
|
NM_145893.3(RBFOX1):c.22C>G (p.Leu8Val)
|
rs1389613810
|
|
NM_145893.3(RBFOX1):c.24C>T (p.Leu8=)
|
rs1159971428
|
|
NM_145893.3(RBFOX1):c.35A>G (p.Tyr12Cys)
|
|
|
NM_145893.3(RBFOX1):c.38G>T (p.Gly13Val)
|
|
|
NM_145893.3(RBFOX1):c.46A>G (p.Met16Val)
|
rs779418628
|
|
NM_145893.3(RBFOX1):c.4C>G (p.Leu2Val)
|
rs1196867548
|
|
NM_145893.3(RBFOX1):c.54A>G (p.Val18=)
|
rs770264923
|
|
NM_145893.3(RBFOX1):c.56C>G (p.Pro19Arg)
|
rs376061440
|
|
NM_145893.3(RBFOX1):c.56C>T (p.Pro19Leu)
|
rs376061440
|
|
NM_145893.3(RBFOX1):c.68A>G (p.Tyr23Cys)
|
rs1603623680
|
|
NM_145893.3(RBFOX1):c.69C>A (p.Tyr23Ter)
|
rs1378405539
|
|
NM_145893.3(RBFOX1):c.69C>T (p.Tyr23=)
|
rs1378405539
|
|
NM_145893.3(RBFOX1):c.70C>G (p.Leu24Val)
|
rs765010942
|
|
NM_145893.3(RBFOX1):c.75T>C (p.Pro25=)
|
rs2144461588
|
|
NM_145893.3(RBFOX1):c.76G>A (p.Gly26Arg)
|
|
|
NM_145893.3(RBFOX1):c.76G>T (p.Gly26Ter)
|
rs1180011308
|
|
NM_145893.3(RBFOX1):c.85C>T (p.Gln29Ter)
|
rs754561652
|
|
NM_145893.3(RBFOX1):c.86A>G (p.Gln29Arg)
|
|
|
NM_145893.3(RBFOX1):c.87+2T>C
|
rs1240585365
|
|
NM_145893.3(RBFOX1):c.953_962del (p.Val318fs)
|
|
|
NM_145893.3(RBFOX1):c.957G>A (p.Val319=)
|
|
|
NM_145893.3(RBFOX1):c.970G>C (p.Val324Leu)
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NM_145893.3(RBFOX1):c.989T>G (p.Leu330Arg)
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NM_145893.3(RBFOX1):c.993+1G>A
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rs760593868
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