ClinVar Miner

List of variants reported as likely benign for cerebellar degeneration

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 888
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HGVS dbSNP gnomAD frequency
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

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