NM_001372574.1(ATXN2):c.42G>A (p.Gln14=)
|
rs4098854
|
0.75204
|
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)
|
rs16051
|
0.67380
|
NM_001372574.1(ATXN2):c.3043-12G>A
|
rs2073950
|
0.19844
|
NM_001372574.1(ATXN2):c.57A>G (p.Gln19=)
|
rs76696028
|
0.12201
|
NM_003194.5(TBP):c.216A>G (p.Gln72=)
|
rs55736770
|
0.08146
|
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=)
|
rs34775878
|
0.08024
|
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)
|
rs16027
|
0.07737
|
NM_173500.4(TTBK2):c.*482C>G
|
rs16957120
|
0.06388
|
NM_006946.4(SPTBN2):c.4899G>A (p.Leu1633=)
|
rs639938
|
0.06187
|
NM_006946.4(SPTBN2):c.5340C>T (p.Asn1780=)
|
rs623022
|
0.04821
|
NM_004115.4(FGF14):c.*1664_*1666del
|
rs141424596
|
0.04549
|
NM_002739.5(PRKCG):c.285C>T (p.Asp95=)
|
rs17854523
|
0.03329
|
NM_173500.4(TTBK2):c.*583A>T
|
rs116853892
|
0.02725
|
NM_173500.4(TTBK2):c.*678A>G
|
rs78237254
|
0.02688
|
NM_018896.5(CACNA1G):c.1479C>T (p.His493=)
|
rs9897406
|
0.02109
|
NM_001378969.1(KCND3):c.669G>C (p.Ser223=)
|
rs17215423
|
0.01872
|
NM_001127222.2(CACNA1A):c.3989+16A>G
|
rs149764550
|
0.01798
|
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=)
|
rs61733619
|
0.01643
|
NM_006946.4(SPTBN2):c.5639G>A (p.Arg1880His)
|
rs35532855
|
0.01604
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_001278064.2(GRM1):c.2651G>A (p.Gly884Glu)
|
rs362936
|
0.01411
|
NM_152703.5(SAMD9L):c.3102T>C (p.Asp1034=)
|
rs75823828
|
0.01398
|
NM_001940.4(ATN1):c.1467G>A (p.Gln489=)
|
rs782253884
|
0.01283
|
NM_006946.4(SPTBN2):c.234G>A (p.Val78=)
|
rs78309877
|
0.01155
|
NM_006946.4(SPTBN2):c.1011T>G (p.Leu337=)
|
rs34275473
|
0.01154
|
NM_005861.4(STUB1):c.642T>C (p.Leu214=)
|
rs79687861
|
0.01123
|
NM_006946.4(SPTBN2):c.*364C>T
|
rs11828658
|
0.01074
|
NM_001378452.1(ITPR1):c.1302G>A (p.Pro434=)
|
rs34252981
|
0.01036
|
NM_001378452.1(ITPR1):c.1554+17G>A
|
rs80123990
|
0.01028
|
NM_006946.4(SPTBN2):c.7020G>A (p.Pro2340=)
|
rs61741217
|
0.00966
|
NM_006946.4(SPTBN2):c.285C>T (p.Leu95=)
|
rs34117933
|
0.00956
|
NM_001080414.4(CCDC88C):c.2204G>A (p.Arg735His)
|
rs114142372
|
0.00949
|
NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln)
|
rs148919174
|
0.00936
|
NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=)
|
rs145220403
|
0.00924
|
NM_004977.3(KCNC3):c.1641G>A (p.Ser547=)
|
rs2301357
|
0.00867
|
NM_006946.4(SPTBN2):c.3686A>G (p.His1229Arg)
|
rs114788199
|
0.00819
|
NM_152703.5(SAMD9L):c.3964T>C (p.Leu1322=)
|
rs73710962
|
0.00818
|
NM_024411.5(PDYN):c.436A>C (p.Met146Leu)
|
rs77155664
|
0.00698
|
NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala)
|
rs146753539
|
0.00646
|
NM_198994.3(TGM6):c.1656C>T (p.Ala552=)
|
rs75601099
|
0.00634
|
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala)
|
rs201222692
|
0.00627
|
NM_015215.4(CAMTA1):c.2730A>G (p.Ser910=)
|
rs6674962
|
0.00613
|
NM_001080414.4(CCDC88C):c.5183T>C (p.Phe1728Ser)
|
rs7145583
|
0.00602
|
NM_001080414.4(CCDC88C):c.906G>A (p.Ala302=)
|
rs11851173
|
0.00565
|
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=)
|
rs138819654
|
0.00560
|
NM_000784.4(CYP27A1):c.921G>A (p.Val307=)
|
rs147975335
|
0.00559
|
NM_007289.4(MME):c.2133G>A (p.Val711=)
|
rs61760409
|
0.00518
|
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met)
|
rs2229381
|
0.00498
|
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=)
|
rs139544500
|
0.00494
|
NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=)
|
rs114241603
|
0.00477
|
NM_198994.3(TGM6):c.-2A>G
|
rs80329336
|
0.00475
|
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)
|
rs16049
|
0.00467
|
NM_004977.3(KCNC3):c.984G>A (p.Pro328=)
|
rs114192110
|
0.00461
|
NM_007289.4(MME):c.1255A>C (p.Met419Leu)
|
rs34931605
|
0.00459
|
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln)
|
rs61745465
|
0.00451
|
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)
|
rs41276886
|
0.00451
|
NM_018896.5(CACNA1G):c.1589G>A (p.Arg530His)
|
rs7222276
|
0.00445
|
NM_006946.4(SPTBN2):c.4447C>T (p.Arg1483Cys)
|
rs115062978
|
0.00441
|
NM_015215.4(CAMTA1):c.986A>G (p.Lys329Arg)
|
rs151133441
|
0.00433
|
NM_001447.3(FAT2):c.829G>C (p.Val277Leu)
|
rs145834206
|
0.00429
|
NM_173500.4(TTBK2):c.*1311G>A
|
rs148272721
|
0.00429
|
NM_001127222.2(CACNA1A):c.5067+20G>A
|
rs184517632
|
0.00390
|
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=)
|
rs61750051
|
0.00377
|
NM_004115.4(FGF14):c.*1259C>T
|
rs535930764
|
0.00357
|
NM_006946.4(SPTBN2):c.1161C>T (p.Arg387=)
|
rs74909073
|
0.00352
|
NM_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=)
|
rs146028766
|
0.00326
|
NM_001278064.2(GRM1):c.2043T>C (p.Arg681=)
|
rs143682838
|
0.00289
|
NM_001278064.2(GRM1):c.2496T>C (p.Thr832=)
|
rs142675468
|
0.00288
|
NM_001080414.4(CCDC88C):c.969C>T (p.Asn323=)
|
rs61737660
|
0.00287
|
NM_006946.4(SPTBN2):c.*546T>C
|
rs539068045
|
0.00285
|
NM_001128164.2(ATXN1):c.2150C>T (p.Ala717Val)
|
rs41267702
|
0.00279
|
NM_015215.4(CAMTA1):c.3066+20C>T
|
rs147462930
|
0.00264
|
NM_004977.3(KCNC3):c.2093G>A (p.Arg698His)
|
rs144957827
|
0.00255
|
NM_004115.4(FGF14):c.*1118G>A
|
rs147404825
|
0.00250
|
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=)
|
rs75897848
|
0.00225
|
NM_013236.4(ATXN10):c.321G>A (p.Thr107=)
|
rs61733598
|
0.00223
|
NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp)
|
rs140842830
|
0.00215
|
NM_006946.4(SPTBN2):c.1221C>T (p.His407=)
|
rs143596433
|
0.00212
|
NM_006796.3(AFG3L2):c.98A>C (p.Gln33Pro)
|
rs777868371
|
0.00211
|
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=)
|
rs79720149
|
0.00191
|
NM_001278064.2(GRM1):c.3161G>A (p.Gly1054Asp)
|
rs145764886
|
0.00188
|
NM_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=)
|
rs200979954
|
0.00175
|
NM_006946.4(SPTBN2):c.2526C>T (p.Gly842=)
|
rs144939155
|
0.00173
|
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly)
|
rs61751570
|
0.00168
|
NM_006946.4(SPTBN2):c.1434C>T (p.Ser478=)
|
rs35463342
|
0.00168
|
NM_006946.4(SPTBN2):c.3429A>G (p.Leu1143=)
|
rs35370566
|
0.00168
|
NM_024411.5(PDYN):c.*1238A>T
|
rs187098720
|
0.00163
|
NM_173500.4(TTBK2):c.*1463G>A
|
rs571544379
|
0.00160
|
NM_004115.4(FGF14):c.636T>C (p.His212=)
|
rs41281644
|
0.00149
|
NM_015215.4(CAMTA1):c.1955C>T (p.Ser652Leu)
|
rs144242373
|
0.00137
|
NM_006946.4(SPTBN2):c.1807+13C>T
|
rs151122248
|
0.00132
|
NM_001127222.2(CACNA1A):c.7262C>T (p.Pro2421Leu)
|
rs573961089
|
0.00130
|
NM_001378969.1(KCND3):c.117T>C (p.Asp39=)
|
rs12720446
|
0.00128
|
NM_001378452.1(ITPR1):c.4843-8C>T
|
rs41304179
|
0.00119
|
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=)
|
rs16009
|
0.00114
|
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=)
|
rs143547136
|
0.00108
|
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=)
|
rs142527379
|
0.00107
|
NM_015215.4(CAMTA1):c.4007C>T (p.Thr1336Ile)
|
rs137974312
|
0.00106
|
NM_000784.4(CYP27A1):c.646+4C>T
|
rs191313794
|
0.00105
|
NM_004977.3(KCNC3):c.315G>C (p.Thr105=)
|
rs368049323
|
0.00104
|
NM_001378452.1(ITPR1):c.*1198C>T
|
rs367636150
|
0.00102
|
NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp)
|
rs199968321
|
0.00102
|
NM_006946.4(SPTBN2):c.1722G>A (p.Glu574=)
|
rs143083152
|
0.00100
|
NM_001378452.1(ITPR1):c.3057A>G (p.Ser1019=)
|
rs200705345
|
0.00090
|
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)
|
rs149897566
|
0.00083
|
NM_006946.4(SPTBN2):c.157+5G>A
|
rs150159444
|
0.00081
|
NM_024411.4(PDYN):c.-382C>T
|
rs188187030
|
0.00081
|
NM_000784.4(CYP27A1):c.1102G>T (p.Val368Leu)
|
rs145722193
|
0.00080
|
NM_001376.5(DYNC1H1):c.2719-6C>T
|
rs199763298
|
0.00078
|
NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala)
|
rs149008060
|
0.00077
|
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val)
|
rs145890206
|
0.00076
|
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile)
|
rs201836062
|
0.00070
|
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln)
|
rs148826890
|
0.00067
|
NM_024411.5(PDYN):c.106G>T (p.Gly36Cys)
|
rs149056587
|
0.00067
|
NM_001130823.3(DNMT1):c.731G>A (p.Gly244Glu)
|
rs150999369
|
0.00066
|
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu)
|
rs201340369
|
0.00066
|
NM_021814.5(ELOVL5):c.698A>G (p.Tyr233Cys)
|
rs41273880
|
0.00066
|
NM_001376.5(DYNC1H1):c.*194C>T
|
rs566606862
|
0.00064
|
NM_001378452.1(ITPR1):c.6912G>A (p.Pro2304=)
|
rs200426774
|
0.00063
|
NM_001130823.3(DNMT1):c.4656+9G>A
|
rs367724672
|
0.00061
|
NM_006946.4(SPTBN2):c.6751C>T (p.Arg2251Trp)
|
rs150607879
|
0.00061
|
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=)
|
rs146053862
|
0.00061
|
NM_001128164.2(ATXN1):c.609G>T (p.Gln203His)
|
rs199744696
|
0.00060
|
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=)
|
rs141242095
|
0.00059
|
NM_001376.5(DYNC1H1):c.5050-15T>C
|
rs190979027
|
0.00059
|
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)
|
rs140841480
|
0.00059
|
NM_001128164.2(ATXN1):c.621G>T (p.Gln207His)
|
rs201030692
|
0.00057
|
NM_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=)
|
rs138887857
|
0.00056
|
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)
|
rs149753029
|
0.00056
|
NM_198994.3(TGM6):c.1011G>A (p.Glu337=)
|
rs142832802
|
0.00056
|
NM_006946.4(SPTBN2):c.-22-10C>A
|
rs200435327
|
0.00054
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00053
|
NM_001376.5(DYNC1H1):c.345-10T>G
|
rs202110844
|
0.00053
|
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=)
|
rs193212750
|
0.00051
|
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile)
|
rs188558398
|
0.00048
|
NM_001378452.1(ITPR1):c.66G>A (p.Ser22=)
|
rs112944532
|
0.00048
|
NM_198994.3(TGM6):c.1452C>T (p.Asp484=)
|
rs142748417
|
0.00046
|
NM_001376.5(DYNC1H1):c.10908+10G>A
|
rs201277756
|
0.00045
|
NM_001378452.1(ITPR1):c.2732C>T (p.Ala911Val)
|
rs201519806
|
0.00044
|
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)
|
rs149300055
|
0.00042
|
NM_001378969.1(KCND3):c.1131G>T (p.Thr377=)
|
rs148428571
|
0.00038
|
NM_173500.4(TTBK2):c.3021A>G (p.Leu1007=)
|
rs201662235
|
0.00038
|
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=)
|
rs138596741
|
0.00037
|
NM_001378452.1(ITPR1):c.4474G>A (p.Val1492Ile)
|
rs200646875
|
0.00037
|
NM_198994.3(TGM6):c.622G>A (p.Val208Met)
|
rs61743614
|
0.00037
|
NM_006946.4(SPTBN2):c.1719C>T (p.His573=)
|
rs148207416
|
0.00036
|
NM_001130823.3(DNMT1):c.1224C>T (p.Asn408=)
|
rs199584370
|
0.00035
|
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=)
|
rs144455258
|
0.00034
|
NM_001127222.2(CACNA1A):c.1199-17G>C
|
rs190836274
|
0.00034
|
NM_001376.5(DYNC1H1):c.11596-7G>A
|
rs375593873
|
0.00034
|
NM_001378452.1(ITPR1):c.7098C>T (p.Gly2366=)
|
rs41290672
|
0.00034
|
NM_173500.4(TTBK2):c.*185A>G
|
rs376104201
|
0.00034
|
NM_198994.3(TGM6):c.1690C>T (p.Pro564Ser)
|
rs200674917
|
0.00034
|
NM_001376.5(DYNC1H1):c.9762+9T>G
|
rs376545350
|
0.00033
|
NM_004115.4(FGF14):c.123C>T (p.Asn41=)
|
rs372705140
|
0.00033
|
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)
|
rs150888094
|
0.00032
|
NM_001378452.1(ITPR1):c.6349G>T (p.Ala2117Ser)
|
rs373973399
|
0.00032
|
NM_001378452.1(ITPR1):c.141C>T (p.Asn47=)
|
rs370939479
|
0.00031
|
NM_001378452.1(ITPR1):c.7986C>T (p.Thr2662=)
|
rs368405302
|
0.00029
|
NM_004115.4(FGF14):c.384T>C (p.Asn128=)
|
rs41281646
|
0.00029
|
NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro)
|
rs200124857
|
0.00029
|
NM_198994.3(TGM6):c.277A>G (p.Met93Val)
|
rs146529216
|
0.00029
|
NM_000784.4(CYP27A1):c.*47G>A
|
rs140059093
|
0.00028
|
NM_004977.3(KCNC3):c.1927G>A (p.Gly643Ser)
|
rs778523009
|
0.00028
|
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile)
|
rs149101812
|
0.00027
|
NM_001378452.1(ITPR1):c.5766T>C (p.Asp1922=)
|
rs201311531
|
0.00027
|
NM_001378969.1(KCND3):c.1959C>T (p.Ser653=)
|
rs147087785
|
0.00027
|
NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=)
|
rs143904999
|
0.00027
|
NM_198994.3(TGM6):c.38G>A (p.Arg13Gln)
|
rs201694328
|
0.00027
|
NM_001376.5(DYNC1H1):c.-13C>G
|
rs537857759
|
0.00026
|
NM_000784.4(CYP27A1):c.1564G>A (p.Val522Met)
|
rs151117761
|
0.00024
|
NM_002739.5(PRKCG):c.1281+9G>C
|
rs370400523
|
0.00024
|
NM_173500.4(TTBK2):c.595C>T (p.Arg199Trp)
|
rs200125366
|
0.00024
|
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=)
|
rs375767483
|
0.00023
|
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=)
|
rs138571942
|
0.00023
|
NM_004977.3(KCNC3):c.1884G>A (p.Ala628=)
|
rs552133569
|
0.00023
|
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=)
|
rs148132118
|
0.00021
|
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=)
|
rs192959810
|
0.00021
|
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=)
|
rs145208135
|
0.00021
|
NM_001378452.1(ITPR1):c.7389C>T (p.Phe2463=)
|
rs200487406
|
0.00021
|
NM_002222.6(ITPR1):c.*1611G>A
|
rs565800630
|
0.00021
|
NM_002739.5(PRKCG):c.711G>T (p.Glu237Asp)
|
rs116236420
|
0.00021
|
NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=)
|
rs139279260
|
0.00019
|
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)
|
rs143600636
|
0.00019
|
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr)
|
rs373694009
|
0.00019
|
NM_173500.4(TTBK2):c.-51C>T
|
rs374364415
|
0.00019
|
NM_000784.4(CYP27A1):c.1184+9G>T
|
rs200457116
|
0.00016
|
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=)
|
rs150389057
|
0.00016
|
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=)
|
rs368033271
|
0.00016
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737
|
0.00016
|
NM_001378452.1(ITPR1):c.1951C>T (p.Leu651=)
|
rs375234629
|
0.00016
|
NM_001378969.1(KCND3):c.1106+10C>T
|
rs377267051
|
0.00016
|
NM_006946.4(SPTBN2):c.5031C>T (p.Ala1677=)
|
rs201752194
|
0.00016
|
NM_152296.5(ATP1A3):c.2419-7C>T
|
rs187436315
|
0.00016
|
NM_173500.4(TTBK2):c.3543G>A (p.Ser1181=)
|
rs199635198
|
0.00016
|
NM_198994.3(TGM6):c.-42C>T
|
rs376489998
|
0.00016
|
NM_001378969.1(KCND3):c.1292G>A (p.Arg431His)
|
rs771703569
|
0.00015
|
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=)
|
rs140033479
|
0.00014
|
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln)
|
rs201804963
|
0.00014
|
NM_001378452.1(ITPR1):c.2616G>A (p.Arg872=)
|
rs375533002
|
0.00014
|
NM_001378452.1(ITPR1):c.3669G>A (p.Val1223=)
|
rs201263269
|
0.00014
|
NM_001378969.1(KCND3):c.696G>A (p.Ala232=)
|
rs370453605
|
0.00014
|
NM_006796.2(AFG3L2):c.-206C>A
|
rs564906201
|
0.00014
|
NM_006796.2(AFG3L2):c.-207T>A
|
rs533486310
|
0.00014
|
NM_015215.4(CAMTA1):c.806-11G>A
|
rs200922493
|
0.00014
|
NM_198994.3(TGM6):c.379C>T (p.Arg127Trp)
|
rs148854519
|
0.00014
|
NM_001127222.2(CACNA1A):c.7328C>T (p.Ala2443Val)
|
rs763414737
|
0.00013
|
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=)
|
rs373636519
|
0.00013
|
NM_001378452.1(ITPR1):c.6180+11T>A
|
rs772860677
|
0.00013
|
NM_002739.5(PRKCG):c.822-14C>T
|
rs367639661
|
0.00013
|
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)
|
rs181649030
|
0.00012
|
NM_001378969.1(KCND3):c.1865C>T (p.Ala622Val)
|
rs199663609
|
0.00012
|
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg)
|
rs139842853
|
0.00011
|
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=)
|
rs142338762
|
0.00011
|
NM_001378452.1(ITPR1):c.1886+14G>A
|
rs370584403
|
0.00011
|
NM_001378452.1(ITPR1):c.2299C>T (p.Arg767Cys)
|
rs377248442
|
0.00011
|
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val)
|
rs199698357
|
0.00011
|
NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys)
|
rs144120746
|
0.00011
|
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=)
|
rs200553205
|
0.00010
|
NM_000784.4(CYP27A1):c.1413T>C (p.Tyr471=)
|
rs549032526
|
0.00010
|
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met)
|
rs200604732
|
0.00010
|
NM_000784.4(CYP27A1):c.792G>A (p.Val264=)
|
rs144018609
|
0.00010
|
NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys)
|
rs202002033
|
0.00010
|
NM_001130823.3(DNMT1):c.3711C>T (p.Cys1237=)
|
rs139909192
|
0.00010
|
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=)
|
rs149902566
|
0.00010
|
NM_002739.5(PRKCG):c.*84C>A
|
rs995740073
|
0.00010
|
NM_024411.5(PDYN):c.483C>G (p.Leu161=)
|
rs773513924
|
0.00010
|
NM_198994.3(TGM6):c.951C>T (p.Phe317=)
|
rs201333931
|
0.00010
|
NM_000784.4(CYP27A1):c.387C>T (p.Asp129=)
|
rs1426398337
|
0.00009
|
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=)
|
rs147580834
|
0.00009
|
NM_001378969.1(KCND3):c.1062C>A (p.Ile354=)
|
rs150934088
|
0.00009
|
NM_001378969.1(KCND3):c.1149C>T (p.Phe383=)
|
rs760817061
|
0.00009
|
NM_001378969.1(KCND3):c.1766+3G>A
|
rs748524463
|
0.00009
|
NM_001378969.1(KCND3):c.207G>A (p.Thr69=)
|
rs751347311
|
0.00009
|
NM_006946.4(SPTBN2):c.249C>T (p.Ser83=)
|
rs141552965
|
0.00009
|
NM_024411.5(PDYN):c.*33A>C
|
rs556095353
|
0.00009
|
NM_152703.5(SAMD9L):c.2114A>G (p.Tyr705Cys)
|
rs144236612
|
0.00009
|
NM_001127222.2(CACNA1A):c.979-10C>A
|
rs374647321
|
0.00008
|
NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=)
|
rs368621706
|
0.00008
|
NM_002739.5(PRKCG):c.940-3C>T
|
rs377593245
|
0.00008
|
NM_006946.4(SPTBN2):c.5950-9C>T
|
rs554781314
|
0.00008
|
NM_173500.4(TTBK2):c.3420A>G (p.Pro1140=)
|
rs201347313
|
0.00008
|
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg)
|
rs369969903
|
0.00007
|
NM_000784.4(CYP27A1):c.593C>T (p.Ser198Leu)
|
rs563736306
|
0.00007
|
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)
|
rs371636461
|
0.00007
|
NM_001127222.2(CACNA1A):c.6527-16C>T
|
rs752985059
|
0.00007
|
NM_001130823.3(DNMT1):c.1986C>T (p.Asn662=)
|
rs377704053
|
0.00007
|
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=)
|
rs548760128
|
0.00007
|
NM_001378452.1(ITPR1):c.5335G>A (p.Gly1779Ser)
|
rs369108656
|
0.00007
|
NM_152703.5(SAMD9L):c.1015C>A (p.Leu339Ile)
|
rs138238924
|
0.00007
|
NM_000784.4(CYP27A1):c.420C>T (p.His140=)
|
rs139415581
|
0.00006
|
NM_000784.4(CYP27A1):c.515C>T (p.Ala172Val)
|
rs200753815
|
0.00006
|
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser)
|
rs145080072
|
0.00006
|
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met)
|
rs199691576
|
0.00006
|
NM_000784.4(CYP27A1):c.790G>A (p.Val264Met)
|
rs201500822
|
0.00006
|
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg)
|
rs761881469
|
0.00006
|
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)
|
rs150401343
|
0.00006
|
NM_001378969.1(KCND3):c.651G>A (p.Pro217=)
|
rs186974111
|
0.00006
|
NM_002739.5(PRKCG):c.1730C>T (p.Ser577Leu)
|
rs551805527
|
0.00006
|
NM_006796.3(AFG3L2):c.1065G>A (p.Thr355=)
|
rs139181972
|
0.00006
|
NM_024411.5(PDYN):c.520C>T (p.Arg174Cys)
|
rs567558964
|
0.00006
|
NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=)
|
rs782325595
|
0.00006
|
NM_173500.4(TTBK2):c.*33A>C
|
rs149561490
|
0.00006
|
NM_000784.4(CYP27A1):c.1152G>A (p.Pro384=)
|
rs373428306
|
0.00005
|
NM_000784.4(CYP27A1):c.1595G>A (p.Ter532=)
|
rs150091721
|
0.00005
|
NM_000784.4(CYP27A1):c.447-11C>T
|
rs746577389
|
0.00005
|
NM_000784.4(CYP27A1):c.547G>A (p.Asp183Asn)
|
rs751280804
|
0.00005
|
NM_000784.4(CYP27A1):c.711C>T (p.Thr237=)
|
rs375163463
|
0.00005
|
NM_000784.4(CYP27A1):c.93C>T (p.Ile31=)
|
rs780332239
|
0.00005
|
NM_001378452.1(ITPR1):c.693C>T (p.Asp231=)
|
rs545754582
|
0.00005
|
NM_002739.5(PRKCG):c.441C>T (p.Pro147=)
|
rs764546467
|
0.00005
|
NM_004115.4(FGF14):c.261C>T (p.Pro87=)
|
rs757210660
|
0.00005
|
NM_006946.4(SPTBN2):c.6266G>A (p.Arg2089Lys)
|
rs569905004
|
0.00005
|
NM_152703.5(SAMD9L):c.2316T>G (p.Thr772=)
|
rs201861233
|
0.00005
|
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser)
|
rs778458082
|
0.00004
|
NM_000784.4(CYP27A1):c.1185-15T>C
|
rs117727806
|
0.00004
|
NM_000784.4(CYP27A1):c.1477-10T>C
|
rs372756101
|
0.00004
|
NM_000784.4(CYP27A1):c.1509G>A (p.Pro503=)
|
rs577558935
|
0.00004
|
NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=)
|
rs748616891
|
0.00004
|
NM_000784.4(CYP27A1):c.159G>A (p.Arg53=)
|
rs750652986
|
0.00004
|
NM_000784.4(CYP27A1):c.501G>A (p.Lys167=)
|
rs921885901
|
0.00004
|
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr)
|
rs556745324
|
0.00004
|
NM_000784.4(CYP27A1):c.608C>T (p.Ser203Leu)
|
rs186812403
|
0.00004
|
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=)
|
rs374214760
|
0.00004
|
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=)
|
rs536121075
|
0.00004
|
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=)
|
rs375547282
|
0.00004
|
NM_001378452.1(ITPR1):c.3195C>T (p.His1065=)
|
rs745351516
|
0.00004
|
NM_001378969.1(KCND3):c.1173C>T (p.Gly391=)
|
rs533201615
|
0.00004
|
NM_001378969.1(KCND3):c.1269+18G>A
|
rs372005674
|
0.00004
|
NM_001378969.1(KCND3):c.519C>T (p.Phe173=)
|
rs144600384
|
0.00004
|
NM_001378969.1(KCND3):c.618G>A (p.Pro206=)
|
rs200611538
|
0.00004
|
NM_004115.4(FGF14):c.*1741T>C
|
rs529644559
|
0.00004
|
NM_006946.4(SPTBN2):c.6035-12C>T
|
rs2276137
|
0.00004
|
NM_006946.4(SPTBN2):c.924G>C (p.Glu308Asp)
|
rs564046722
|
0.00004
|
NM_173500.4(TTBK2):c.2831G>A (p.Arg944Gln)
|
rs201348630
|
0.00004
|
NM_198994.3(TGM6):c.595G>A (p.Gly199Ser)
|
rs182249285
|
0.00004
|
NM_000784.4(CYP27A1):c.1113C>T (p.Ala371=)
|
rs746269951
|
0.00003
|
NM_000784.4(CYP27A1):c.1348C>T (p.Leu450=)
|
rs1039198612
|
0.00003
|
NM_000784.4(CYP27A1):c.447-10G>A
|
rs756808196
|
0.00003
|
NM_000784.4(CYP27A1):c.594G>A (p.Ser198=)
|
rs1487944910
|
0.00003
|
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=)
|
rs200060245
|
0.00003
|
NM_000784.4(CYP27A1):c.647-4T>C
|
rs1943729690
|
0.00003
|
NM_000784.4(CYP27A1):c.844+20G>A
|
rs200698553
|
0.00003
|
NM_000784.4(CYP27A1):c.870C>T (p.Leu290=)
|
rs202136743
|
0.00003
|
NM_000784.4(CYP27A1):c.972G>A (p.Glu324=)
|
rs1341913523
|
0.00003
|
NM_001130823.3(DNMT1):c.4773+11C>T
|
rs777602633
|
0.00003
|
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn)
|
rs755333803
|
0.00003
|
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=)
|
rs754446530
|
0.00003
|
NM_001378452.1(ITPR1):c.4435C>T (p.His1479Tyr)
|
rs943946433
|
0.00003
|
NM_001378969.1(KCND3):c.1314G>A (p.Ser438=)
|
rs1247179970
|
0.00003
|
NM_001378969.1(KCND3):c.1524C>T (p.His508=)
|
rs765916708
|
0.00003
|
NM_001378969.1(KCND3):c.339C>T (p.Ala113=)
|
rs371366472
|
0.00003
|
NM_001378969.1(KCND3):c.693G>C (p.Thr231=)
|
rs749849320
|
0.00003
|
NM_006796.3(AFG3L2):c.1426+9A>T
|
rs377339236
|
0.00003
|
NM_006796.3(AFG3L2):c.718C>T (p.Arg240Trp)
|
rs768999765
|
0.00003
|
NM_152296.5(ATP1A3):c.2418+18C>T
|
rs369674143
|
0.00003
|
NM_173500.4(TTBK2):c.2278C>T (p.Pro760Ser)
|
rs117382379
|
0.00003
|
NM_198994.3(TGM6):c.621C>A (p.Asp207Glu)
|
rs148696208
|
0.00003
|
NM_000784.4(CYP27A1):c.1029G>A (p.Thr343=)
|
rs771343931
|
0.00002
|
NM_000784.4(CYP27A1):c.1089G>A (p.Glu363=)
|
rs963559886
|
0.00002
|
NM_000784.4(CYP27A1):c.1470C>T (p.Leu490=)
|
rs1229201370
|
0.00002
|
NM_000784.4(CYP27A1):c.315C>T (p.His105=)
|
rs753981913
|
0.00002
|
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=)
|
rs192344487
|
0.00002
|
NM_000784.4(CYP27A1):c.36G>T (p.Ala12=)
|
rs764764261
|
0.00002
|
NM_000784.4(CYP27A1):c.384C>T (p.Asn128=)
|
rs765555645
|
0.00002
|
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=)
|
rs776260288
|
0.00002
|
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=)
|
rs200506778
|
0.00002
|
NM_000784.4(CYP27A1):c.563G>A (p.Arg188Gln)
|
rs754310499
|
0.00002
|
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=)
|
rs751692931
|
0.00002
|
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=)
|
rs764766872
|
0.00002
|
NM_001130823.3(DNMT1):c.3999C>T (p.Ala1333=)
|
rs747144567
|
0.00002
|
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr)
|
rs141925609
|
0.00002
|
NM_001376.5(DYNC1H1):c.13151C>T (p.Ala4384Val)
|
rs201971718
|
0.00002
|
NM_001376.5(DYNC1H1):c.2071A>C (p.Met691Leu)
|
rs745510694
|
0.00002
|
NM_001378452.1(ITPR1):c.3514C>G (p.Pro1172Ala)
|
rs773251870
|
0.00002
|
NM_001378969.1(KCND3):c.1353C>T (p.Asn451=)
|
rs148320813
|
0.00002
|
NM_001378969.1(KCND3):c.1368G>A (p.Leu456=)
|
rs17215451
|
0.00002
|
NM_001378969.1(KCND3):c.1519-5C>T
|
rs376408039
|
0.00002
|
NM_001378969.1(KCND3):c.1752C>A (p.Pro584=)
|
rs771385731
|
0.00002
|
NM_001378969.1(KCND3):c.1794C>T (p.Asp598=)
|
rs181971539
|
0.00002
|
NM_001378969.1(KCND3):c.318G>A (p.Pro106=)
|
rs770807162
|
0.00002
|
NM_001378969.1(KCND3):c.321C>A (p.Arg107=)
|
rs746952612
|
0.00002
|
NM_001378969.1(KCND3):c.348C>T (p.Asp116=)
|
rs756600533
|
0.00002
|
NM_001378969.1(KCND3):c.576C>T (p.Phe192=)
|
rs759120826
|
0.00002
|
NM_001378969.1(KCND3):c.879C>T (p.Arg293=)
|
rs147739517
|
0.00002
|
NM_001378969.1(KCND3):c.9C>T (p.Ala3=)
|
rs777097802
|
0.00002
|
NM_006946.4(SPTBN2):c.1323C>T (p.Leu441=)
|
rs764447133
|
0.00002
|
NM_018896.5(CACNA1G):c.3167C>T (p.Thr1056Met)
|
rs555798090
|
0.00002
|
NM_024411.5(PDYN):c.456C>T (p.Asn152=)
|
rs148113209
|
0.00002
|
NM_152296.5(ATP1A3):c.2819+12G>A
|
rs782653272
|
0.00002
|
NM_173500.4(TTBK2):c.2525A>G (p.Glu842Gly)
|
rs202004988
|
0.00002
|
NM_198994.3(TGM6):c.717G>A (p.Gln239=)
|
rs201506281
|
0.00002
|
NM_198994.3(TGM6):c.850+4C>T
|
rs765181893
|
0.00002
|
NM_000784.4(CYP27A1):c.1017+14G>A
|
rs1196582375
|
0.00001
|
NM_000784.4(CYP27A1):c.1086C>T (p.His362=)
|
rs139426361
|
0.00001
|
NM_000784.4(CYP27A1):c.1101T>G (p.Gly367=)
|
rs752360378
|
0.00001
|
NM_000784.4(CYP27A1):c.1125C>G (p.Pro375=)
|
rs202049251
|
0.00001
|
NM_000784.4(CYP27A1):c.1185-13C>A
|
rs772157208
|
0.00001
|
NM_000784.4(CYP27A1):c.1185-16A>G
|
rs779178036
|
0.00001
|
NM_000784.4(CYP27A1):c.1254C>T (p.Phe418=)
|
rs779041544
|
0.00001
|
NM_000784.4(CYP27A1):c.1263+10G>A
|
rs775546941
|
0.00001
|
NM_000784.4(CYP27A1):c.1263+19C>A
|
rs377513951
|
0.00001
|
NM_000784.4(CYP27A1):c.126A>G (p.Gly42=)
|
rs1238340088
|
0.00001
|
NM_000784.4(CYP27A1):c.1311C>T (p.Ala437=)
|
rs886044581
|
0.00001
|
NM_000784.4(CYP27A1):c.1317T>G (p.Ser439=)
|
rs1943767251
|
0.00001
|
NM_000784.4(CYP27A1):c.1374C>A (p.Pro458=)
|
rs55998945
|
0.00001
|
NM_000784.4(CYP27A1):c.1375A>C (p.Arg459=)
|
rs755008787
|
0.00001
|
NM_000784.4(CYP27A1):c.1407T>C (p.Phe469=)
|
rs1423547583
|
0.00001
|
NM_000784.4(CYP27A1):c.1477-18G>A
|
rs886703307
|
0.00001
|
NM_000784.4(CYP27A1):c.1477-5C>A
|
rs890298373
|
0.00001
|
NM_000784.4(CYP27A1):c.1477-8C>T
|
rs1461082000
|
0.00001
|
NM_000784.4(CYP27A1):c.1488G>A (p.Lys496=)
|
rs1379650960
|
0.00001
|
NM_000784.4(CYP27A1):c.1503G>A (p.Leu501=)
|
rs1336081746
|
0.00001
|
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=)
|
rs886656814
|
0.00001
|
NM_000784.4(CYP27A1):c.1557T>C (p.Asn519=)
|
rs1375435703
|
0.00001
|
NM_000784.4(CYP27A1):c.1590G>A (p.Gln530=)
|
rs1943775029
|
0.00001
|
NM_000784.4(CYP27A1):c.192A>G (p.Gly64=)
|
rs1366418494
|
0.00001
|
NM_000784.4(CYP27A1):c.214C>T (p.Leu72=)
|
rs747003400
|
0.00001
|
NM_000784.4(CYP27A1):c.255+8G>A
|
rs774689564
|
0.00001
|
NM_000784.4(CYP27A1):c.255+9C>T
|
rs762433789
|
0.00001
|
NM_000784.4(CYP27A1):c.256-8C>A
|
rs1416013036
|
0.00001
|
NM_000784.4(CYP27A1):c.273G>A (p.Lys91=)
|
rs1559391394
|
0.00001
|
NM_000784.4(CYP27A1):c.294C>T (p.Ser98=)
|
rs1696186258
|
0.00001
|
NM_000784.4(CYP27A1):c.336G>A (p.Pro112=)
|
rs1413155008
|
0.00001
|
NM_000784.4(CYP27A1):c.432T>C (p.Tyr144=)
|
rs1553616026
|
0.00001
|
NM_000784.4(CYP27A1):c.446+15G>A
|
rs775813515
|
0.00001
|
NM_000784.4(CYP27A1):c.447-7C>T
|
rs746321278
|
0.00001
|
NM_000784.4(CYP27A1):c.45G>A (p.Gly15=)
|
rs988463082
|
0.00001
|
NM_000784.4(CYP27A1):c.516G>A (p.Ala172=)
|
rs749708223
|
0.00001
|
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly)
|
rs748325824
|
0.00001
|
NM_000784.4(CYP27A1):c.654C>T (p.Cys218=)
|
rs1943729887
|
0.00001
|
NM_000784.4(CYP27A1):c.681C>T (p.Gly227=)
|
rs1182190234
|
0.00001
|
NM_000784.4(CYP27A1):c.693A>G (p.Arg231=)
|
rs1187804477
|
0.00001
|
NM_000784.4(CYP27A1):c.699C>A (p.Ile233=)
|
rs1178297854
|
0.00001
|
NM_000784.4(CYP27A1):c.69C>T (p.His23=)
|
rs1444634924
|
0.00001
|
NM_000784.4(CYP27A1):c.705G>A (p.Glu235=)
|
rs1943733748
|
0.00001
|
NM_000784.4(CYP27A1):c.720C>T (p.Phe240=)
|
rs748075933
|
0.00001
|
NM_000784.4(CYP27A1):c.732C>T (p.Ile244=)
|
rs1224145759
|
0.00001
|
NM_000784.4(CYP27A1):c.882G>A (p.Glu294=)
|
rs59428328
|
0.00001
|
NM_000784.4(CYP27A1):c.990T>C (p.Pro330=)
|
rs1227319154
|
0.00001
|
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=)
|
rs200735835
|
0.00001
|
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=)
|
rs533327200
|
0.00001
|
NM_001376.5(DYNC1H1):c.4331C>T (p.Ala1444Val)
|
rs141561289
|
0.00001
|
NM_001376.5(DYNC1H1):c.5472C>T (p.Ser1824=)
|
rs769577090
|
0.00001
|
NM_001376.5(DYNC1H1):c.7200C>A (p.Gly2400=)
|
rs549582489
|
0.00001
|
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr)
|
rs766837403
|
0.00001
|
NM_001378452.1(ITPR1):c.1497C>T (p.Phe499=)
|
rs778521012
|
0.00001
|
NM_001378969.1(KCND3):c.1146C>A (p.Ile382=)
|
rs185723423
|
0.00001
|
NM_001378969.1(KCND3):c.1359G>A (p.Ala453=)
|
rs762936059
|
0.00001
|
NM_001378969.1(KCND3):c.1362G>A (p.Leu454=)
|
rs765815341
|
0.00001
|
NM_001378969.1(KCND3):c.1372-6T>C
|
rs765435324
|
0.00001
|
NM_001378969.1(KCND3):c.1462-13T>C
|
rs766769240
|
0.00001
|
NM_001378969.1(KCND3):c.1492T>C (p.Leu498=)
|
rs762528364
|
0.00001
|
NM_001378969.1(KCND3):c.1518+18T>C
|
rs377356478
|
0.00001
|
NM_001378969.1(KCND3):c.186G>A (p.Pro62=)
|
rs1411627342
|
0.00001
|
NM_001378969.1(KCND3):c.1917C>A (p.Asn639Lys)
|
rs777172603
|
0.00001
|
NM_001378969.1(KCND3):c.324C>T (p.Tyr108=)
|
rs777559132
|
0.00001
|
NM_001378969.1(KCND3):c.399C>T (p.Tyr133=)
|
rs144184587
|
0.00001
|
NM_001378969.1(KCND3):c.609G>A (p.Glu203=)
|
rs1171946587
|
0.00001
|
NM_001378969.1(KCND3):c.727C>T (p.Leu243=)
|
rs769885163
|
0.00001
|
NM_001378969.1(KCND3):c.837C>T (p.Asn279=)
|
rs761397595
|
0.00001
|
NM_001378969.1(KCND3):c.96C>T (p.Ala32=)
|
rs767230824
|
0.00001
|
NM_001378969.1(KCND3):c.999C>T (p.Ile333=)
|
rs1250316713
|
0.00001
|
NM_002739.5(PRKCG):c.*48G>A
|
rs775600229
|
0.00001
|
NM_006796.3(AFG3L2):c.1089A>G (p.Gly363=)
|
rs747246135
|
0.00001
|
NM_006796.3(AFG3L2):c.2035C>T (p.Arg679Cys)
|
rs551015841
|
0.00001
|
NM_006796.3(AFG3L2):c.2175+14G>A
|
rs758755215
|
0.00001
|
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln)
|
rs753491527
|
0.00001
|
NM_152296.5(ATP1A3):c.1218C>T (p.His406=)
|
rs1238469762
|
0.00001
|
NM_152296.5(ATP1A3):c.384C>G (p.Ala128=)
|
rs782662538
|
0.00001
|
NM_198994.3(TGM6):c.1478C>T (p.Pro493Leu)
|
rs776319756
|
0.00001
|
NM_198994.3(TGM6):c.390C>T (p.Gly130=)
|
rs751704232
|
0.00001
|
NM_000784.4(CYP27A1):c.1017+10G>T
|
|
|
NM_000784.4(CYP27A1):c.1017+11G>C
|
rs766039123
|
|
NM_000784.4(CYP27A1):c.1017+11G>T
|
rs766039123
|
|
NM_000784.4(CYP27A1):c.1017+14G>C
|
rs1196582375
|
|
NM_000784.4(CYP27A1):c.1017+17G>A
|
rs1431354879
|
|
NM_000784.4(CYP27A1):c.1017+17G>T
|
|
|
NM_000784.4(CYP27A1):c.1017+18G>T
|
|
|
NM_000784.4(CYP27A1):c.1018-11C>G
|
|
|
NM_000784.4(CYP27A1):c.1018-16C>T
|
|
|
NM_000784.4(CYP27A1):c.1018-19C>A
|
|
|
NM_000784.4(CYP27A1):c.1018-19C>T
|
|
|
NM_000784.4(CYP27A1):c.1018-4C>G
|
|
|
NM_000784.4(CYP27A1):c.1018-4C>T
|
|
|
NM_000784.4(CYP27A1):c.1018-8T>C
|
rs1943753198
|
|
NM_000784.4(CYP27A1):c.1026C>T (p.Asn342=)
|
|
|
NM_000784.4(CYP27A1):c.1029G>T (p.Thr343=)
|
rs771343931
|
|
NM_000784.4(CYP27A1):c.102C>T (p.Ala34=)
|
rs773208703
|
|
NM_000784.4(CYP27A1):c.1030C>T (p.Leu344=)
|
|
|
NM_000784.4(CYP27A1):c.1035A>G (p.Thr345=)
|
|
|
NM_000784.4(CYP27A1):c.1041C>T (p.Ala347=)
|
|
|
NM_000784.4(CYP27A1):c.1044G>A (p.Leu348=)
|
rs776794344
|
|
NM_000784.4(CYP27A1):c.1053C>G (p.Leu351=)
|
|
|
NM_000784.4(CYP27A1):c.105C>T (p.Leu35=)
|
|
|
NM_000784.4(CYP27A1):c.1065T>C (p.Pro355=)
|
|
|
NM_000784.4(CYP27A1):c.1074G>A (p.Gln358=)
|
rs2105980889
|
|
NM_000784.4(CYP27A1):c.1080C>T (p.Ala360=)
|
|
|
NM_000784.4(CYP27A1):c.1081T>C (p.Leu361=)
|
|
|
NM_000784.4(CYP27A1):c.108C>G (p.Pro36=)
|
|
|
NM_000784.4(CYP27A1):c.108C>T (p.Pro36=)
|
rs760334139
|
|
NM_000784.4(CYP27A1):c.1095G>A (p.Val365=)
|
rs1045010358
|
|
NM_000784.4(CYP27A1):c.1107G>A (p.Val369=)
|
rs2105980920
|
|
NM_000784.4(CYP27A1):c.1113C>G (p.Ala371=)
|
|
|
NM_000784.4(CYP27A1):c.1116G>A (p.Gly372=)
|
|
|
NM_000784.4(CYP27A1):c.1116G>C (p.Gly372=)
|
rs1943755876
|
|
NM_000784.4(CYP27A1):c.1116G>T (p.Gly372=)
|
rs1943755876
|
|
NM_000784.4(CYP27A1):c.111G>C (p.Ser37=)
|
|
|
NM_000784.4(CYP27A1):c.1134G>A (p.Lys378=)
|
|
|
NM_000784.4(CYP27A1):c.1146C>T (p.His382=)
|
|
|
NM_000784.4(CYP27A1):c.1167G>A (p.Val389=)
|
|
|
NM_000784.4(CYP27A1):c.1170T>G (p.Leu390=)
|
|
|
NM_000784.4(CYP27A1):c.117G>A (p.Lys39=)
|
|
|
NM_000784.4(CYP27A1):c.1182G>A (p.Leu394=)
|
rs1421364979
|
|
NM_000784.4(CYP27A1):c.1184+16G>A
|
|
|
NM_000784.4(CYP27A1):c.1184+16G>C
|
rs1445661658
|
|
NM_000784.4(CYP27A1):c.1184+16G>T
|
rs1445661658
|
|
NM_000784.4(CYP27A1):c.1184+20T>C
|
|
|
NM_000784.4(CYP27A1):c.1184+7C>G
|
rs1575206765
|
|
NM_000784.4(CYP27A1):c.1184+7C>T
|
rs1575206765
|
|
NM_000784.4(CYP27A1):c.1184+9G>A
|
rs200457116
|
|
NM_000784.4(CYP27A1):c.1184+9G>C
|
rs200457116
|
|
NM_000784.4(CYP27A1):c.1185-18A>G
|
|
|
NM_000784.4(CYP27A1):c.1185-19G>A
|
|
|
NM_000784.4(CYP27A1):c.1185-4G>A
|
rs776459243
|
|
NM_000784.4(CYP27A1):c.1185-4G>T
|
rs776459243
|
|
NM_000784.4(CYP27A1):c.1185-5T>C
|
rs2105981044
|
|
NM_000784.4(CYP27A1):c.1188C>T (p.Leu396=)
|
rs1271161678
|
|
NM_000784.4(CYP27A1):c.1191C>T (p.Tyr397=)
|
|
|
NM_000784.4(CYP27A1):c.1203C>A (p.Pro401=)
|
|
|
NM_000784.4(CYP27A1):c.1212C>T (p.Ser404=)
|
|
|
NM_000784.4(CYP27A1):c.1215G>A (p.Arg405=)
|
|
|
NM_000784.4(CYP27A1):c.1215G>T (p.Arg405=)
|
|
|
NM_000784.4(CYP27A1):c.1218C>T (p.Ile406=)
|
|
|
NM_000784.4(CYP27A1):c.1221A>T (p.Ile407=)
|
rs767002858
|
|
NM_000784.4(CYP27A1):c.1239T>G (p.Val413=)
|
|
|
NM_000784.4(CYP27A1):c.123C>T (p.Thr41=)
|
rs2106479141
|
|
NM_000784.4(CYP27A1):c.1263+14G>C
|
|
|
NM_000784.4(CYP27A1):c.1263+19C>T
|
|
|
NM_000784.4(CYP27A1):c.1264-5T>G
|
|
|
NM_000784.4(CYP27A1):c.1264-6T>C
|
rs2105981164
|
|
NM_000784.4(CYP27A1):c.1264-7T>G
|
|
|
NM_000784.4(CYP27A1):c.1264-8C>T
|
rs2105981161
|
|
NM_000784.4(CYP27A1):c.1266C>A (p.Thr422=)
|
rs2105981167
|
|
NM_000784.4(CYP27A1):c.1266C>T (p.Thr422=)
|
|
|
NM_000784.4(CYP27A1):c.1269G>A (p.Gln423=)
|
|
|
NM_000784.4(CYP27A1):c.1275G>A (p.Val425=)
|
|
|
NM_000784.4(CYP27A1):c.1281C>T (p.Cys427=)
|
|
|
NM_000784.4(CYP27A1):c.1284C>T (p.His428=)
|
rs1653127444
|
|
NM_000784.4(CYP27A1):c.1293G>A (p.Val431=)
|
|
|
NM_000784.4(CYP27A1):c.1296C>T (p.Ser432=)
|
rs1943766681
|
|
NM_000784.4(CYP27A1):c.1320G>A (p.Glu440=)
|
|
|
NM_000784.4(CYP27A1):c.1323T>C (p.Pro441=)
|
rs2105981217
|
|
NM_000784.4(CYP27A1):c.1329C>T (p.Ser443=)
|
rs2105981221
|
|
NM_000784.4(CYP27A1):c.132C>G (p.Pro44=)
|
rs933195273
|
|
NM_000784.4(CYP27A1):c.132C>T (p.Pro44=)
|
rs933195273
|
|
NM_000784.4(CYP27A1):c.1332C>T (p.Phe444=)
|
rs760024535
|
|
NM_000784.4(CYP27A1):c.1356C>T (p.Asn452=)
|
rs527395716
|
|
NM_000784.4(CYP27A1):c.1371C>T (p.Thr457=)
|
rs1177463640
|
|
NM_000784.4(CYP27A1):c.1374C>T (p.Pro458=)
|
|
|
NM_000784.4(CYP27A1):c.1380C>T (p.Ile460=)
|
|
|
NM_000784.4(CYP27A1):c.1404C>T (p.Pro468=)
|
|
|
NM_000784.4(CYP27A1):c.1410C>T (p.Gly470=)
|
rs770435184
|
|
NM_000784.4(CYP27A1):c.1416G>A (p.Gly472=)
|
|
|
NM_000784.4(CYP27A1):c.1416G>T (p.Gly472=)
|
|
|
NM_000784.4(CYP27A1):c.141G>A (p.Gly47=)
|
|
|
NM_000784.4(CYP27A1):c.1422G>A (p.Arg474=)
|
|
|
NM_000784.4(CYP27A1):c.1425C>A (p.Ala475=)
|
rs1008075672
|
|
NM_000784.4(CYP27A1):c.1425C>T (p.Ala475=)
|
|
|
NM_000784.4(CYP27A1):c.1446A>G (p.Ala482=)
|
rs2105981315
|
|
NM_000784.4(CYP27A1):c.1449G>A (p.Glu483=)
|
|
|
NM_000784.4(CYP27A1):c.1456A>T (p.Met486Leu)
|
rs150585977
|
|
NM_000784.4(CYP27A1):c.1461G>A (p.Gln487=)
|
|
|
NM_000784.4(CYP27A1):c.1462C>T (p.Leu488=)
|
rs1943770169
|
|
NM_000784.4(CYP27A1):c.1464A>G (p.Leu488=)
|
|
|
NM_000784.4(CYP27A1):c.1467C>G (p.Leu489=)
|
|
|
NM_000784.4(CYP27A1):c.1467C>T (p.Leu489=)
|
rs1324313458
|
|
NM_000784.4(CYP27A1):c.1470C>G (p.Leu490=)
|
|
|
NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr)
|
rs72551323
|
|
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)
|
rs72551323
|
|
NM_000784.4(CYP27A1):c.1473A>C (p.Ala491=)
|
|
|
NM_000784.4(CYP27A1):c.1473A>G (p.Ala491=)
|
|
|
NM_000784.4(CYP27A1):c.1476+10G>A
|
rs1358508044
|
|
NM_000784.4(CYP27A1):c.1476+14G>A
|
|
|
NM_000784.4(CYP27A1):c.1476+15G>C
|
|
|
NM_000784.4(CYP27A1):c.1476+17T>C
|
|
|
NM_000784.4(CYP27A1):c.1476+20T>C
|
rs1575207079
|
|
NM_000784.4(CYP27A1):c.1477-13C>G
|
|
|
NM_000784.4(CYP27A1):c.1477-13C>T
|
|
|
NM_000784.4(CYP27A1):c.1477-16G>T
|
|
|
NM_000784.4(CYP27A1):c.1477-19T>A
|
|
|
NM_000784.4(CYP27A1):c.1477-19T>C
|
|
|
NM_000784.4(CYP27A1):c.1477-20A>G
|
|
|
NM_000784.4(CYP27A1):c.1477-20A>T
|
rs757019811
|
|
NM_000784.4(CYP27A1):c.1477-4C>A
|
|
|
NM_000784.4(CYP27A1):c.1477-4C>G
|
|
|
NM_000784.4(CYP27A1):c.1477-4C>T
|
|
|
NM_000784.4(CYP27A1):c.1477-5C>G
|
|
|
NM_000784.4(CYP27A1):c.1477-5C>T
|
rs890298373
|
|
NM_000784.4(CYP27A1):c.1477-6C>A
|
|
|
NM_000784.4(CYP27A1):c.1477-6C>T
|
rs1182127092
|
|
NM_000784.4(CYP27A1):c.1477-7C>A
|
rs2105981410
|
|
NM_000784.4(CYP27A1):c.1477-7C>T
|
|
|
NM_000784.4(CYP27A1):c.1477-8C>A
|
rs1461082000
|
|
NM_000784.4(CYP27A1):c.1477-9A>G
|
rs2105981405
|
|
NM_000784.4(CYP27A1):c.147T>C (p.Gly49=)
|
|
|
NM_000784.4(CYP27A1):c.1486A>G (p.Lys496Glu)
|
|
|
NM_000784.4(CYP27A1):c.1497G>T (p.Val499=)
|
rs1943773164
|
|
NM_000784.4(CYP27A1):c.1500C>T (p.Val500=)
|
rs1268917075
|
|
NM_000784.4(CYP27A1):c.1506C>T (p.Ala502=)
|
|
|
NM_000784.4(CYP27A1):c.150C>T (p.Val50=)
|
rs1408697261
|
|
NM_000784.4(CYP27A1):c.1518G>A (p.Gly506=)
|
|
|
NM_000784.4(CYP27A1):c.1521G>A (p.Glu507=)
|
|
|
NM_000784.4(CYP27A1):c.1524G>A (p.Leu508=)
|
rs970661282
|
|
NM_000784.4(CYP27A1):c.1533G>A (p.Val511=)
|
|
|
NM_000784.4(CYP27A1):c.1539C>T (p.Arg513=)
|
rs1575207204
|
|
NM_000784.4(CYP27A1):c.1542T>C (p.Ile514=)
|
|
|
NM_000784.4(CYP27A1):c.1545C>T (p.Val515=)
|
|
|
NM_000784.4(CYP27A1):c.1548G>T (p.Leu516=)
|
rs2105981481
|
|
NM_000784.4(CYP27A1):c.1575G>A (p.Gln525=)
|
|
|
NM_000784.4(CYP27A1):c.1593C>T (p.Cys531=)
|
rs1481894464
|
|
NM_000784.4(CYP27A1):c.15C>T (p.Gly5=)
|
rs1943396825
|
|
NM_000784.4(CYP27A1):c.165G>A (p.Arg55=)
|
rs2106479159
|
|
NM_000784.4(CYP27A1):c.183A>C (p.Pro61=)
|
|
|
NM_000784.4(CYP27A1):c.187C>T (p.Leu63=)
|
|
|
NM_000784.4(CYP27A1):c.189A>C (p.Leu63=)
|
|
|
NM_000784.4(CYP27A1):c.219C>T (p.Phe73=)
|
|
|
NM_000784.4(CYP27A1):c.21G>A (p.Ala7=)
|
rs1289665937
|
|
NM_000784.4(CYP27A1):c.21G>C (p.Ala7=)
|
rs1289665937
|
|
NM_000784.4(CYP27A1):c.231T>C (p.Tyr77=)
|
|
|
NM_000784.4(CYP27A1):c.235C>T (p.Leu79=)
|
rs1387640811
|
|
NM_000784.4(CYP27A1):c.237G>C (p.Leu79=)
|
rs1295302612
|
|
NM_000784.4(CYP27A1):c.246C>T (p.His82=)
|
|
|
NM_000784.4(CYP27A1):c.255+10G>A
|
|
|
NM_000784.4(CYP27A1):c.255+14G>A
|
|
|
NM_000784.4(CYP27A1):c.255+14G>T
|
rs767761739
|
|
NM_000784.4(CYP27A1):c.255+15C>T
|
|
|
NM_000784.4(CYP27A1):c.255+20C>A
|
rs1943402023
|
|
NM_000784.4(CYP27A1):c.255+7C>G
|
|
|
NM_000784.4(CYP27A1):c.255+7del
|
|
|
NM_000784.4(CYP27A1):c.256-10A>G
|
rs2105978797
|
|
NM_000784.4(CYP27A1):c.256-16T>G
|
|
|
NM_000784.4(CYP27A1):c.256-17T>G
|
|
|
NM_000784.4(CYP27A1):c.256-20G>A
|
|
|
NM_000784.4(CYP27A1):c.256-5C>T
|
rs768029983
|
|
NM_000784.4(CYP27A1):c.256-6C>T
|
|
|
NM_000784.4(CYP27A1):c.256-9A>C
|
|
|
NM_000784.4(CYP27A1):c.258G>A (p.Val86=)
|
rs2105978806
|
|
NM_000784.4(CYP27A1):c.25C>T (p.Leu9=)
|
rs2106479038
|
|
NM_000784.4(CYP27A1):c.279T>C (p.Gly93=)
|
rs773872361
|
|
NM_000784.4(CYP27A1):c.303G>T (p.Gly101=)
|
rs2105978833
|
|
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=)
|
rs1306558952
|
|
NM_000784.4(CYP27A1):c.321C>T (p.Asn107=)
|
rs755282568
|
|
NM_000784.4(CYP27A1):c.327C>G (p.Ala109=)
|
rs2105978849
|
|
NM_000784.4(CYP27A1):c.339C>T (p.Leu113=)
|
|
|
NM_000784.4(CYP27A1):c.345G>A (p.Glu115=)
|
rs919883150
|
|
NM_000784.4(CYP27A1):c.351G>C (p.Val117=)
|
|
|
NM_000784.4(CYP27A1):c.351G>T (p.Val117=)
|
|
|
NM_000784.4(CYP27A1):c.355C>A (p.Arg119=)
|
|
|
NM_000784.4(CYP27A1):c.363G>A (p.Glu121=)
|
|
|
NM_000784.4(CYP27A1):c.369G>A (p.Lys123=)
|
rs2105978882
|
|
NM_000784.4(CYP27A1):c.36G>A (p.Ala12=)
|
|
|
NM_000784.4(CYP27A1):c.36G>C (p.Ala12=)
|
|
|
NM_000784.4(CYP27A1):c.372C>T (p.Tyr124=)
|
|
|
NM_000784.4(CYP27A1):c.393G>A (p.Glu131=)
|
rs911534514
|
|
NM_000784.4(CYP27A1):c.394C>T (p.Leu132=)
|
rs1237307385
|
|
NM_000784.4(CYP27A1):c.396A>G (p.Leu132=)
|
|
|
NM_000784.4(CYP27A1):c.39G>A (p.Leu13=)
|
rs2106479059
|
|
NM_000784.4(CYP27A1):c.411G>A (p.Arg137=)
|
rs1275203092
|
|
NM_000784.4(CYP27A1):c.417G>A (p.Gln139=)
|
|
|
NM_000784.4(CYP27A1):c.423C>T (p.Asp141=)
|
rs1943692779
|
|
NM_000784.4(CYP27A1):c.426G>A (p.Leu142=)
|
|
|
NM_000784.4(CYP27A1):c.426G>T (p.Leu142=)
|
|
|
NM_000784.4(CYP27A1):c.429C>G (p.Thr143=)
|
|
|
NM_000784.4(CYP27A1):c.42A>T (p.Arg14=)
|
|
|
NM_000784.4(CYP27A1):c.435G>A (p.Gly145=)
|
|
|
NM_000784.4(CYP27A1):c.444C>T (p.Thr148=)
|
rs2105978956
|
|
NM_000784.4(CYP27A1):c.446+10G>A
|
rs200400166
|
|
NM_000784.4(CYP27A1):c.446+18G>A
|
|
|
NM_000784.4(CYP27A1):c.446+8G>A
|
rs950113577
|
|
NM_000784.4(CYP27A1):c.446+9G>T
|
|
|
NM_000784.4(CYP27A1):c.447-12G>T
|
|
|
NM_000784.4(CYP27A1):c.447-13T>G
|
|
|
NM_000784.4(CYP27A1):c.447-15T>C
|
|
|
NM_000784.4(CYP27A1):c.447-4G>T
|
rs2105979874
|
|
NM_000784.4(CYP27A1):c.447-8C>A
|
|
|
NM_000784.4(CYP27A1):c.447-8C>G
|
|
|
NM_000784.4(CYP27A1):c.447-9T>A
|
|
|
NM_000784.4(CYP27A1):c.447-9T>C
|
|
|
NM_000784.4(CYP27A1):c.450A>G (p.Glu150=)
|
rs749515902
|
|
NM_000784.4(CYP27A1):c.453A>G (p.Gly151=)
|
rs2105979882
|
|
NM_000784.4(CYP27A1):c.456C>T (p.His152=)
|
rs1943723875
|
|
NM_000784.4(CYP27A1):c.45G>C (p.Gly15=)
|
|
|
NM_000784.4(CYP27A1):c.465C>T (p.Tyr155=)
|
rs553140875
|
|
NM_000784.4(CYP27A1):c.48C>A (p.Ala16=)
|
rs2106479063
|
|
NM_000784.4(CYP27A1):c.48C>G (p.Ala16=)
|
rs2106479063
|
|
NM_000784.4(CYP27A1):c.48C>T (p.Ala16=)
|
|
|
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln)
|
rs148417330
|
|
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro)
|
rs148417330
|
|
NM_000784.4(CYP27A1):c.492G>T (p.Arg164=)
|
rs2105979919
|
|
NM_000784.4(CYP27A1):c.498G>A (p.Leu166=)
|
|
|
NM_000784.4(CYP27A1):c.506C>A (p.Ala169Glu)
|
rs59443548
|
|
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val)
|
rs59443548
|
|
NM_000784.4(CYP27A1):c.51C>T (p.Gly17=)
|
|
|
NM_000784.4(CYP27A1):c.522T>C (p.Tyr174=)
|
|
|
NM_000784.4(CYP27A1):c.525G>T (p.Thr175=)
|
rs200506778
|
|
NM_000784.4(CYP27A1):c.540G>A (p.Glu180=)
|
rs1238433654
|
|
NM_000784.4(CYP27A1):c.543G>T (p.Val181=)
|
rs2105979971
|
|
NM_000784.4(CYP27A1):c.54T>C (p.Arg18=)
|
|
|
NM_000784.4(CYP27A1):c.55G>A (p.Gly19Ser)
|
|
|
NM_000784.4(CYP27A1):c.564A>T (p.Arg188=)
|
rs2105979989
|
|
NM_000784.4(CYP27A1):c.565C>T (p.Leu189=)
|
|
|
NM_000784.4(CYP27A1):c.574C>T (p.Leu192=)
|
|
|
NM_000784.4(CYP27A1):c.577C>A (p.Arg193=)
|
|
|
NM_000784.4(CYP27A1):c.57C>A (p.Gly19=)
|
|
|
NM_000784.4(CYP27A1):c.582A>G (p.Ala194=)
|
|
|
NM_000784.4(CYP27A1):c.594G>C (p.Ser198=)
|
|
|
NM_000784.4(CYP27A1):c.597G>A (p.Gly199=)
|
rs2105980020
|
|
NM_000784.4(CYP27A1):c.606G>A (p.Val202=)
|
rs1451997056
|
|
NM_000784.4(CYP27A1):c.606G>T (p.Val202=)
|
rs1451997056
|
|
NM_000784.4(CYP27A1):c.624C>A (p.Leu208=)
|
|
|
NM_000784.4(CYP27A1):c.630C>T (p.Tyr210=)
|
rs2105980041
|
|
NM_000784.4(CYP27A1):c.639C>T (p.Ala213=)
|
|
|
NM_000784.4(CYP27A1):c.63C>T (p.Cys21=)
|
rs781222632
|
|
NM_000784.4(CYP27A1):c.642G>A (p.Leu214=)
|
|
|
NM_000784.4(CYP27A1):c.646+10C>T
|
|
|
NM_000784.4(CYP27A1):c.646+11T>C
|
|
|
NM_000784.4(CYP27A1):c.646+13G>T
|
|
|
NM_000784.4(CYP27A1):c.646+19G>A
|
|
|
NM_000784.4(CYP27A1):c.646+8T>C
|
|
|
NM_000784.4(CYP27A1):c.646+8del
|
rs1943728243
|
|
NM_000784.4(CYP27A1):c.646+9G>C
|
rs760140162
|
|
NM_000784.4(CYP27A1):c.647-10C>T
|
|
|
NM_000784.4(CYP27A1):c.647-16T>G
|
|
|
NM_000784.4(CYP27A1):c.647-17C>A
|
|
|
NM_000784.4(CYP27A1):c.647-17C>T
|
rs774331706
|
|
NM_000784.4(CYP27A1):c.647-18C>A
|
|
|
NM_000784.4(CYP27A1):c.647-18C>T
|
|
|
NM_000784.4(CYP27A1):c.647-19G>A
|
|
|
NM_000784.4(CYP27A1):c.647-7T>C
|
|
|
NM_000784.4(CYP27A1):c.647-9A>G
|
|
|
NM_000784.4(CYP27A1):c.657C>T (p.Tyr219=)
|
rs1414259537
|
|
NM_000784.4(CYP27A1):c.660C>T (p.Ile220=)
|
rs1400244740
|
|
NM_000784.4(CYP27A1):c.663G>A (p.Leu221=)
|
|
|
NM_000784.4(CYP27A1):c.669G>A (p.Glu223=)
|
rs2105980119
|
|
NM_000784.4(CYP27A1):c.66C>G (p.Pro22=)
|
rs1423345815
|
|
NM_000784.4(CYP27A1):c.66C>T (p.Pro22=)
|
rs1423345815
|
|
NM_000784.4(CYP27A1):c.672A>G (p.Lys224=)
|
|
|
NM_000784.4(CYP27A1):c.675C>T (p.Arg225=)
|
|
|
NM_000784.4(CYP27A1):c.678T>C (p.Ile226=)
|
|
|
NM_000784.4(CYP27A1):c.684C>T (p.Cys228=)
|
rs1180200717
|
|
NM_000784.4(CYP27A1):c.693A>T (p.Arg231=)
|
rs1187804477
|
|
NM_000784.4(CYP27A1):c.696C>T (p.Ser232=)
|
|
|
NM_000784.4(CYP27A1):c.702C>G (p.Pro234=)
|
|
|
NM_000784.4(CYP27A1):c.717C>G (p.Thr239=)
|
|
|
NM_000784.4(CYP27A1):c.717C>T (p.Thr239=)
|
|
|
NM_000784.4(CYP27A1):c.735G>A (p.Gly245=)
|
rs770631614
|
|
NM_000784.4(CYP27A1):c.735G>T (p.Gly245=)
|
rs770631614
|
|
NM_000784.4(CYP27A1):c.738A>G (p.Leu246=)
|
|
|
NM_000784.4(CYP27A1):c.750C>T (p.Asn250=)
|
|
|
NM_000784.4(CYP27A1):c.756C>A (p.Leu252=)
|
rs1559392636
|
|
NM_000784.4(CYP27A1):c.759T>C (p.Tyr253=)
|
rs2105980208
|
|
NM_000784.4(CYP27A1):c.75C>G (p.Ala25=)
|
|
|
NM_000784.4(CYP27A1):c.765C>G (p.Thr255=)
|
rs1431924945
|
|
NM_000784.4(CYP27A1):c.765C>T (p.Thr255=)
|
rs1431924945
|
|
NM_000784.4(CYP27A1):c.777G>A (p.Lys259=)
|
|
|
NM_000784.4(CYP27A1):c.786C>T (p.Arg262=)
|
|
|
NM_000784.4(CYP27A1):c.795G>A (p.Leu265=)
|
|
|
NM_000784.4(CYP27A1):c.798T>C (p.Pro266=)
|
rs1575206137
|
|
NM_000784.4(CYP27A1):c.801C>T (p.Phe267=)
|
rs2105980247
|
|
NM_000784.4(CYP27A1):c.813C>T (p.Tyr271=)
|
rs532134925
|
|
NM_000784.4(CYP27A1):c.816G>C (p.Leu272=)
|
|
|
NM_000784.4(CYP27A1):c.816G>T (p.Leu272=)
|
|
|
NM_000784.4(CYP27A1):c.831C>T (p.Ala277=)
|
|
|
NM_000784.4(CYP27A1):c.834C>A (p.Ile278=)
|
|
|
NM_000784.4(CYP27A1):c.844+10C>T
|
|
|
NM_000784.4(CYP27A1):c.844+13A>T
|
|
|
NM_000784.4(CYP27A1):c.844+14G>C
|
|
|
NM_000784.4(CYP27A1):c.844+9T>G
|
|
|
NM_000784.4(CYP27A1):c.845-10G>A
|
|
|
NM_000784.4(CYP27A1):c.845-12T>C
|
|
|
NM_000784.4(CYP27A1):c.845-13G>A
|
rs1398037639
|
|
NM_000784.4(CYP27A1):c.845-6T>C
|
rs2105980379
|
|
NM_000784.4(CYP27A1):c.855G>A (p.Leu285=)
|
|
|
NM_000784.4(CYP27A1):c.855G>T (p.Leu285=)
|
|
|
NM_000784.4(CYP27A1):c.858T>C (p.Ile286=)
|
rs2105980390
|
|
NM_000784.4(CYP27A1):c.861T>C (p.Asp287=)
|
rs762359911
|
|
NM_000784.4(CYP27A1):c.864G>A (p.Glu288=)
|
|
|
NM_000784.4(CYP27A1):c.870C>G (p.Leu290=)
|
rs202136743
|
|
NM_000784.4(CYP27A1):c.876T>C (p.Asp292=)
|
|
|
NM_000784.4(CYP27A1):c.87C>T (p.Ala29=)
|
rs1310841339
|
|
NM_000784.4(CYP27A1):c.903G>C (p.Gly301=)
|
rs2105980427
|
|
NM_000784.4(CYP27A1):c.903G>T (p.Gly301=)
|
|
|
NM_000784.4(CYP27A1):c.909T>C (p.Asp303=)
|
rs1316018823
|
|
NM_000784.4(CYP27A1):c.912C>T (p.Gly304=)
|
|
|
NM_000784.4(CYP27A1):c.918G>A (p.Gln306=)
|
|
|
NM_000784.4(CYP27A1):c.931C>T (p.Leu311=)
|
|
|
NM_000784.4(CYP27A1):c.933G>A (p.Leu311=)
|
|
|
NM_000784.4(CYP27A1):c.939C>T (p.Phe313=)
|
|
|
NM_000784.4(CYP27A1):c.957G>A (p.Gln319=)
|
rs1943741154
|
|
NM_000784.4(CYP27A1):c.975C>T (p.Ala325=)
|
rs2105980465
|
|
NM_000784.4(CYP27A1):c.981C>A (p.Gly327=)
|
rs1400093675
|
|
NM_000784.4(CYP27A1):c.984C>T (p.Ser328=)
|
|
|
NM_000784.4(CYP27A1):c.987G>A (p.Leu329=)
|
rs2105980473
|
|
NM_000784.4(CYP27A1):c.987G>C (p.Leu329=)
|
|
|
NM_000784.4(CYP27A1):c.996G>T (p.Leu332=)
|
|
|
NM_000784.4(CYP27A1):c.99C>T (p.Ala33=)
|
rs967210940
|
|
NM_000784.4(CYP27A1):c.9G>A (p.Ala3=)
|
|
|
NM_000784.4(CYP27A1):c.9G>T (p.Ala3=)
|
rs971599666
|
|
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del)
|
rs772989979
|
|
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup)
|
rs16054
|
|
NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup)
|
rs16054
|
|
NM_001278064.2(GRM1):c.2007G>T (p.Ala669=)
|
rs148926588
|
|
NM_001278064.2(GRM1):c.2364G>C (p.Ala788=)
|
rs114187147
|
|
NM_001372574.1(ATXN2):c.289-11del
|
rs144235483
|
|
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del)
|
rs10560189
|
|
NM_001376.5(DYNC1H1):c.13203C>T (p.Thr4401=)
|
rs138022242
|
|
NM_001378452.1(ITPR1):c.*356TG[1]
|
rs113825412
|
|
NM_001378452.1(ITPR1):c.*814_*817dup
|
rs148070806
|
|
NM_001378452.1(ITPR1):c.-2A>G
|
rs369723935
|
|
NM_001378452.1(ITPR1):c.1606C>T (p.Leu536Phe)
|
rs1553681680
|
|
NM_001378452.1(ITPR1):c.2427G>A (p.Ser809=)
|
rs553559062
|
|
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=)
|
rs34635052
|
|
NM_001378452.1(ITPR1):c.4992-7del
|
rs546612625
|
|
NM_001378452.1(ITPR1):c.5025A>C (p.Glu1675Asp)
|
rs1553706329
|
|
NM_001378452.1(ITPR1):c.8190+13_8190+14del
|
rs552585900
|
|
NM_001378969.1(KCND3):c.1026C>G (p.Ala342=)
|
rs1216276887
|
|
NM_001378969.1(KCND3):c.1041G>A (p.Ser347=)
|
rs369361457
|
|
NM_001378969.1(KCND3):c.1050G>A (p.Lys350=)
|
|
|
NM_001378969.1(KCND3):c.1053C>T (p.Phe351=)
|
|
|
NM_001378969.1(KCND3):c.1062C>T (p.Ile354=)
|
|
|
NM_001378969.1(KCND3):c.1065T>A (p.Pro355=)
|
rs1467256846
|
|
NM_001378969.1(KCND3):c.1098C>A (p.Thr366=)
|
|
|
NM_001378969.1(KCND3):c.1106+11G>A
|
|
|
NM_001378969.1(KCND3):c.1106+11G>T
|
rs1437557964
|
|
NM_001378969.1(KCND3):c.1107-21_1107-20del
|
|
|
NM_001378969.1(KCND3):c.1131G>A (p.Thr377=)
|
|
|
NM_001378969.1(KCND3):c.1158C>T (p.Ile386=)
|
|
|
NM_001378969.1(KCND3):c.1167G>A (p.Leu389=)
|
rs1571636426
|
|
NM_001378969.1(KCND3):c.1173C>A (p.Gly391=)
|
rs533201615
|
|
NM_001378969.1(KCND3):c.1194A>G (p.Pro398=)
|
|
|
NM_001378969.1(KCND3):c.1197C>T (p.Val399=)
|
|
|
NM_001378969.1(KCND3):c.1269+14G>A
|
rs369047161
|
|
NM_001378969.1(KCND3):c.1270-20dup
|
|
|
NM_001378969.1(KCND3):c.1270-6T>C
|
rs1195309269
|
|
NM_001378969.1(KCND3):c.1305A>T (p.Thr435=)
|
|
|
NM_001378969.1(KCND3):c.1324C>T (p.Leu442=)
|
|
|
NM_001378969.1(KCND3):c.1329C>T (p.His443=)
|
|
|
NM_001378969.1(KCND3):c.1371+19T>G
|
|
|
NM_001378969.1(KCND3):c.1372-14T>C
|
|
|
NM_001378969.1(KCND3):c.1372-17T>C
|
|
|
NM_001378969.1(KCND3):c.1372-4C>T
|
|
|
NM_001378969.1(KCND3):c.1372-6T>G
|
|
|
NM_001378969.1(KCND3):c.1413C>A (p.Leu471=)
|
|
|
NM_001378969.1(KCND3):c.1434C>T (p.His478=)
|
|
|
NM_001378969.1(KCND3):c.1461+7C>A
|
|
|
NM_001378969.1(KCND3):c.1461+9C>T
|
|
|
NM_001378969.1(KCND3):c.1462-10T>G
|
rs2101462550
|
|
NM_001378969.1(KCND3):c.1462-16G>T
|
|
|
NM_001378969.1(KCND3):c.1462-4G>A
|
|
|
NM_001378969.1(KCND3):c.1518+17A>C
|
|
|
NM_001378969.1(KCND3):c.1519-10C>T
|
rs1664168851
|
|
NM_001378969.1(KCND3):c.1519-17_1519-15del
|
|
|
NM_001378969.1(KCND3):c.1519-20_1519-18del
|
rs775978779
|
|
NM_001378969.1(KCND3):c.1536T>C (p.Asp512=)
|
|
|
NM_001378969.1(KCND3):c.1560C>T (p.Cys520=)
|
|
|
NM_001378969.1(KCND3):c.1587A>G (p.Pro529=)
|
|
|
NM_001378969.1(KCND3):c.159C>T (p.Thr53=)
|
|
|
NM_001378969.1(KCND3):c.1641C>T (p.Cys547=)
|
|
|
NM_001378969.1(KCND3):c.1683C>T (p.Asn561=)
|
|
|
NM_001378969.1(KCND3):c.1692T>G (p.Ala564=)
|
|
|
NM_001378969.1(KCND3):c.1701G>A (p.Leu567=)
|
|
|
NM_001378969.1(KCND3):c.1725G>A (p.Thr575=)
|
|
|
NM_001378969.1(KCND3):c.1740C>A (p.Gly580=)
|
|
|
NM_001378969.1(KCND3):c.1743T>C (p.Ser581=)
|
|
|
NM_001378969.1(KCND3):c.1767-17A>C
|
|
|
NM_001378969.1(KCND3):c.1767-4C>G
|
|
|
NM_001378969.1(KCND3):c.1803G>A (p.Leu601=)
|
|
|
NM_001378969.1(KCND3):c.1866G>A (p.Ala622=)
|
|
|
NM_001378969.1(KCND3):c.186G>C (p.Pro62=)
|
|
|
NM_001378969.1(KCND3):c.18G>A (p.Ala6=)
|
|
|
NM_001378969.1(KCND3):c.1920G>A (p.Thr640=)
|
|
|
NM_001378969.1(KCND3):c.1950C>A (p.Val650=)
|
|
|
NM_001378969.1(KCND3):c.36C>T (p.Ala12=)
|
rs2102000445
|
|
NM_001378969.1(KCND3):c.447C>T (p.Asp149=)
|
rs1553187519
|
|
NM_001378969.1(KCND3):c.486G>A (p.Ser162=)
|
|
|
NM_001378969.1(KCND3):c.492C>T (p.Ser164=)
|
rs1170371506
|
|
NM_001378969.1(KCND3):c.522G>A (p.Glu174=)
|
rs2101997545
|
|
NM_001378969.1(KCND3):c.561C>T (p.Tyr187=)
|
|
|
NM_001378969.1(KCND3):c.600C>T (p.Asn200=)
|
rs1674984825
|
|
NM_001378969.1(KCND3):c.633G>A (p.Pro211=)
|
rs35131566
|
|
NM_001378969.1(KCND3):c.63G>C (p.Pro21=)
|
rs923682288
|
|
NM_001378969.1(KCND3):c.660G>A (p.Glu220=)
|
rs2101996879
|
|
NM_001378969.1(KCND3):c.663C>T (p.Arg221=)
|
|
|
NM_001378969.1(KCND3):c.693G>A (p.Thr231=)
|
|
|
NM_001378969.1(KCND3):c.714C>A (p.Thr238=)
|
|
|
NM_001378969.1(KCND3):c.84C>T (p.Pro28=)
|
|
|
NM_001378969.1(KCND3):c.87G>A (p.Leu29=)
|
|
|
NM_001378969.1(KCND3):c.957C>T (p.Ser319=)
|
rs61733426
|
|
NM_001378969.1(KCND3):c.969T>C (p.Phe323=)
|
rs757012715
|
|
NM_001447.3(FAT2):c.7376G>A (p.Gly2459Glu)
|
|
|
NM_001940.4(ATN1):c.1464GCA[14] (p.Gln502del)
|
rs60216939
|
|
NM_001940.4(ATN1):c.1464GCA[16] (p.Gln502dup)
|
rs60216939
|
|
NM_002222.6(ITPR1):c.*1366C>A
|
rs146958900
|
|
NM_002739.5(PRKCG):c.*59dup
|
rs144706041
|
|
NM_004115.4(FGF14):c.*1058_*1062dup
|
rs577253536
|
|
NM_004115.4(FGF14):c.*1445_*1446dup
|
rs141506954
|
|
NM_004115.4(FGF14):c.*176dup
|
rs144061152
|
|
NM_004115.4(FGF14):c.*1886_*1889dup
|
rs559888067
|
|
NM_004115.4(FGF14):c.*794GT[4]
|
rs371464074
|
|
NM_004360.5(CDH1):c.1062del (p.Gly354_Leu355insTer)
|
|
|
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del)
|
rs747618525
|
|
NM_004977.3(KCNC3):c.2170+14C>T
|
rs189018316
|
|
NM_006796.3(AFG3L2):c.215-11_215-6del
|
rs533823759
|
|
NM_006796.3(AFG3L2):c.293-14_293-13del
|
rs556473698
|
|
NM_015215.4(CAMTA1):c.2860G>A (p.Ala954Thr)
|
|
|
NM_015215.4(CAMTA1):c.4453G>A (p.Glu1485Lys)
|
rs2096854165
|
|
NM_018896.5(CACNA1G):c.5695GACAGCCCC[1] (p.1899DSP[1])
|
rs751210873
|
|
NM_024411.5(PDYN):c.405C>T (p.Asp135=)
|
rs147181436
|
|
NM_152296.5(ATP1A3):c.1839G>C (p.Thr613=)
|
rs376852509
|
|
NM_152296.5(ATP1A3):c.808G>A (p.Gly270Ser)
|
|
|
NM_173500.4(TTBK2):c.-281GCC[5]
|
rs377202784
|
|
NM_173500.4(TTBK2):c.1499G>T (p.Arg500Leu)
|
rs56039839
|
|
NM_173500.4(TTBK2):c.2980G>T (p.Asp994Tyr)
|
rs377620628
|
|
NM_198994.3(TGM6):c.1093+1G>T
|
|
|
NM_198994.3(TGM6):c.1653C>T (p.His551=)
|
rs755072071
|
|
NM_198994.3(TGM6):c.1953_1955dup (p.Gln652dup)
|
rs557817405
|
|
NM_198994.3(TGM6):c.303C>T (p.Leu101=)
|
rs757250219
|
|