ClinVar Miner

List of variants studied for Autosomal dominant cerebellar ataxia

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ClinVar version:
Total variants: 529
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=) rs711631 0.80127
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) rs2306875 0.68068
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=) rs901854 0.59379
NM_024411.4(PDYN):c.-381A>G rs1997794 0.49716
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=) rs13079522 0.30736
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749 0.29982
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903 0.29622
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=) rs2306877 0.26698
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) rs2291862 0.24351
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188 0.16558
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028 0.15920
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_001378452.1(ITPR1):c.1151+5C>G rs2306868 0.13045
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889 0.12866
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=) rs34775878 0.08024
NM_006946.4(SPTBN2):c.4899G>A (p.Leu1633=) rs639938 0.06187
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505 0.05906
NM_001378452.1(ITPR1):c.*777C>T rs41315884 0.05676
NM_001378452.1(ITPR1):c.*847G>A rs41304181 0.05655
NM_006946.4(SPTBN2):c.5340C>T (p.Asn1780=) rs623022 0.04821
NM_001378452.1(ITPR1):c.1412+11C>T rs7632000 0.04752
NM_001376.5(DYNC1H1):c.*190A>G rs13901 0.04745
NM_004115.4(FGF14):c.*1664_*1666del rs141424596 0.04549
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657 0.04171
NM_002222.6(ITPR1):c.*1385A>G rs9875113 0.04159
NM_001378452.1(ITPR1):c.1412+13G>A rs11920643 0.04035
NM_001376.5(DYNC1H1):c.*232C>T rs17512996 0.03685
NM_001378452.1(ITPR1):c.-81A>G rs13319720 0.03249
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158 0.03068
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179 0.03009
NM_001378452.1(ITPR1):c.*1156A>C rs73099961 0.02738
NM_001378452.1(ITPR1):c.*643A>T rs41305987 0.02460
NM_001378452.1(ITPR1):c.*47G>C rs74998763 0.02401
NM_001378452.1(ITPR1):c.*48T>G rs77764633 0.02400
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=) rs34491089 0.02052
NM_001378452.1(ITPR1):c.*1170C>A rs202059633 0.02047
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01643
NM_006946.4(SPTBN2):c.5639G>A (p.Arg1880His) rs35532855 0.01604
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01481
NM_001376.5(DYNC1H1):c.6221+13G>T rs17541088 0.01447
NM_001378452.1(ITPR1):c.4623C>T (p.Ser1541=) rs34748547 0.01444
NM_001378452.1(ITPR1):c.8166C>A (p.Gly2722=) rs73098087 0.01305
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_001378452.1(ITPR1):c.*1185C>A rs867347513 0.01135
NM_001378452.1(ITPR1):c.438C>T (p.Ala146=) rs61741506 0.01135
NM_006946.4(SPTBN2):c.*364C>T rs11828658 0.01074
NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val) rs35789999 0.01046
NM_001378452.1(ITPR1):c.5353+4C>T rs60849754 0.01038
NM_001378452.1(ITPR1):c.1302G>A (p.Pro434=) rs34252981 0.01036
NM_006946.4(SPTBN2):c.7020G>A (p.Pro2340=) rs61741217 0.00966
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196 0.00962
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_006946.4(SPTBN2):c.285C>T (p.Leu95=) rs34117933 0.00956
NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=) rs145220403 0.00924
NM_001378452.1(ITPR1):c.3327+12C>T rs116022052 0.00894
NM_006946.4(SPTBN2):c.3686A>G (p.His1229Arg) rs114788199 0.00819
NM_001378452.1(ITPR1):c.1251+10G>A rs75936691 0.00811
NM_001378452.1(ITPR1):c.3327+4G>A rs2306878 0.00785
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_001378452.1(ITPR1):c.2204+13C>T rs141519515 0.00759
NM_001378452.1(ITPR1):c.1536A>G (p.Glu512=) rs35047189 0.00575
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=) rs138819654 0.00560
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090 0.00548
NM_001378452.1(ITPR1):c.6510+7T>C rs115430385 0.00496
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238 0.00495
NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=) rs114241603 0.00477
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=) rs41289636 0.00470
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519 0.00451
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437 0.00449
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082 0.00448
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460 0.00447
NM_001376.5(DYNC1H1):c.-53G>A rs2273436 0.00446
NM_001376.5(DYNC1H1):c.-5A>G rs17511858 0.00446
NM_006946.4(SPTBN2):c.4447C>T (p.Arg1483Cys) rs115062978 0.00441
NM_001378452.1(ITPR1):c.4263C>G (p.His1421Gln) rs61757110 0.00436
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile) rs41289628 0.00391
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258 0.00381
NM_006946.4(SPTBN2):c.1161C>T (p.Arg387=) rs74909073 0.00352
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650 0.00332
NM_001376.5(DYNC1H1):c.8886+13G>A rs17541317 0.00322
NM_001378452.1(ITPR1):c.6117G>A (p.Ala2039=) rs139528715 0.00306
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906 0.00302
NM_001378452.1(ITPR1):c.2439G>A (p.Ser813=) rs35946460 0.00289
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439 0.00286
NM_006946.4(SPTBN2):c.*546T>C rs539068045 0.00285
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=) rs182840163 0.00248
NM_001378452.1(ITPR1):c.*979A>T rs147782346 0.00226
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=) rs61757111 0.00215
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly) rs143093165 0.00213
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.930G>A (p.Thr310=) rs28565126 0.00201
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=) rs79720149 0.00191
NM_001378452.1(ITPR1):c.*1196T>C rs565045968 0.00178
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 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_001378452.1(ITPR1):c.2007-3T>C rs200335594 0.00148
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=) rs186541002 0.00143
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211 0.00137
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510 0.00132
NM_006946.4(SPTBN2):c.1807+13C>T rs151122248 0.00132
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657 0.00125
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165 0.00125
NM_006946.4(SPTBN2):c.*71G>A rs572522164 0.00125
NM_001378452.1(ITPR1):c.4837T>C (p.Leu1613=) rs367643585 0.00120
NM_001378452.1(ITPR1):c.4843-8C>T rs41304179 0.00119
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=) rs142527379 0.00107
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673 0.00103
NM_001378452.1(ITPR1):c.*1198C>T rs367636150 0.00102
NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val) rs3749383 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_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955 0.00096
NM_001378452.1(ITPR1):c.3057A>G (p.Ser1019=) rs200705345 0.00090
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val) rs145891813 0.00089
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638 0.00088
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_024411.4(PDYN):c.-382C>T rs188187030 0.00081
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298 0.00078
NM_001378452.1(ITPR1):c.5466C>T (p.Asn1822=) rs113368815 0.00078
NM_001378452.1(ITPR1):c.3765C>T (p.Cys1255=) rs140402012 0.00077
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr) rs201144431 0.00071
NM_005245.4(FAT1):c.7130C>T (p.Thr2377Met) rs201363601 0.00071
NM_005245.4(FAT1):c.8991G>A (p.Thr2997=) rs138496810 0.00071
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln) rs148826890 0.00067
NM_001378452.1(ITPR1):c.1926C>T (p.Asn642=) rs61757106 0.00066
NM_001376.5(DYNC1H1):c.*194C>T rs566606862 0.00064
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313 0.00063
NM_001378452.1(ITPR1):c.3660G>A (p.Ala1220=) rs199960483 0.00063
NM_001378452.1(ITPR1):c.6912G>A (p.Pro2304=) rs200426774 0.00063
NM_004115.4(FGF14):c.*1220_*1223dup rs546246953 0.00062
NM_006946.4(SPTBN2):c.6751C>T (p.Arg2251Trp) rs150607879 0.00061
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_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=) rs138887857 0.00056
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029 0.00056
NM_001378452.1(ITPR1):c.*121G>C rs146903558 0.00055
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_001376.5(DYNC1H1):c.10908+10G>A rs201277756 0.00045
NM_001378452.1(ITPR1):c.*942G>T rs41308218 0.00044
NM_001378452.1(ITPR1):c.2732C>T (p.Ala911Val) rs201519806 0.00044
NM_002222.6(ITPR1):c.*1533G>A rs377290142 0.00044
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055 0.00042
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734 0.00037
NM_001378452.1(ITPR1):c.3657C>T (p.Gly1219=) rs201621621 0.00037
NM_001378452.1(ITPR1):c.4474G>A (p.Val1492Ile) rs200646875 0.00037
NM_002222.6(ITPR1):c.*1347G>T rs547675218 0.00036
NM_006946.4(SPTBN2):c.1719C>T (p.His573=) rs148207416 0.00036
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531 0.00035
NM_001376.5(DYNC1H1):c.11596-7G>A rs375593873 0.00034
NM_001378452.1(ITPR1):c.7098C>T (p.Gly2366=) rs41290672 0.00034
NM_006946.4(SPTBN2):c.*121A>G rs554283435 0.00034
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350 0.00033
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468 0.00032
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.4854C>T (p.Ser1618=) rs373127487 0.00031
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016 0.00030
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys) rs141525226 0.00030
NM_001378452.1(ITPR1):c.*279A>G rs886058645 0.00029
NM_001378452.1(ITPR1):c.7986C>T (p.Thr2662=) rs368405302 0.00029
NM_006946.4(SPTBN2):c.-56C>T rs527588843 0.00029
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln) rs764407421 0.00028
NM_001378452.1(ITPR1):c.5766T>C (p.Asp1922=) rs201311531 0.00027
NM_001376.5(DYNC1H1):c.-13C>G rs537857759 0.00026
NM_001378452.1(ITPR1):c.255C>T (p.Asp85=) rs367814655 0.00025
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_001378452.1(ITPR1):c.*1008A>G rs141084091 0.00022
NM_001378452.1(ITPR1):c.7491C>T (p.Ser2497=) rs371986594 0.00022
NM_001378452.1(ITPR1):c.882C>T (p.Gly294=) rs370157764 0.00022
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_006946.4(SPTBN2):c.2064C>T (p.Gly688=) rs376219874 0.00021
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His) rs149581331 0.00019
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr) rs373694009 0.00019
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188 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_001378452.1(ITPR1):c.2007-7T>G rs764512335 0.00016
NM_001378452.1(ITPR1):c.57G>A (p.Ala19=) rs200534989 0.00016
NM_006946.4(SPTBN2):c.5031C>T (p.Ala1677=) rs201752194 0.00016
NM_001376.5(DYNC1H1):c.11366T>C (p.Ile3789Thr) rs775444653 0.00015
NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=) rs142961295 0.00015
NM_001376.5(DYNC1H1):c.12102+6G>A rs377669980 0.00014
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.789C>T (p.Phe263=) rs369681244 0.00014
NM_006796.2(AFG3L2):c.-206C>A rs564906201 0.00014
NM_006796.2(AFG3L2):c.-207T>A rs533486310 0.00014
NM_001376.4(DYNC1H1):c.-137C>T rs886050367 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_006946.4(SPTBN2):c.406A>G (p.Met136Val) rs150610657 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.2280G>T (p.Leu760=) rs375801584 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_001378452.1(ITPR1):c.7737C>T (p.Leu2579=) rs148734757 0.00011
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566 0.00010
NM_006946.4(SPTBN2):c.968A>G (p.Gln323Arg) rs190532690 0.00010
NM_001376.5(DYNC1H1):c.13515+8C>T rs200901713 0.00009
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=) rs147580834 0.00009
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=) rs761916499 0.00009
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=) rs376471830 0.00009
NM_001378452.1(ITPR1):c.*580T>G rs1266500433 0.00009
NM_006946.4(SPTBN2):c.*61G>A rs566929715 0.00009
NM_006946.4(SPTBN2):c.1479C>T (p.Ala493=) rs150837212 0.00009
NM_006946.4(SPTBN2):c.249C>T (p.Ser83=) rs141552965 0.00009
NM_006946.4(SPTBN2):c.2834G>A (p.Arg945His) rs377663856 0.00009
NM_006946.4(SPTBN2):c.6940-11T>C rs551276248 0.00009
NM_024411.4(PDYN):c.-241G>C rs574928545 0.00009
NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=) rs368621706 0.00008
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser) rs201575292 0.00008
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=) rs202004938 0.00008
NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=) rs531438720 0.00008
NM_001378452.1(ITPR1):c.997-6C>T rs139421901 0.00008
NM_005245.4(FAT1):c.1940C>T (p.Ala647Val) rs200988247 0.00008
NM_006946.4(SPTBN2):c.5692G>A (p.Ala1898Thr) rs759505522 0.00008
NM_006946.4(SPTBN2):c.5884C>T (p.Arg1962Cys) rs200370228 0.00008
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=) rs548760128 0.00007
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) rs35092963 0.00007
NM_001378452.1(ITPR1):c.*243G>A rs963189027 0.00007
NM_001378452.1(ITPR1):c.5335G>A (p.Gly1779Ser) rs369108656 0.00007
NM_005245.4(FAT1):c.8041C>T (p.Pro2681Ser) rs369221848 0.00007
NM_006946.4(SPTBN2):c.3194G>A (p.Arg1065Gln) rs753324919 0.00007
NM_001376.5(DYNC1H1):c.12685-3C>T rs149824412 0.00006
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg) rs761881469 0.00006
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg) rs774806132 0.00006
NM_001378452.1(ITPR1):c.2808C>T (p.Gly936=) rs373515668 0.00006
NM_006946.4(SPTBN2):c.6528T>C (p.Asn2176=) rs371535973 0.00006
NM_018012.4(KIF26B):c.2605G>A (p.Gly869Arg) rs199690740 0.00006
NM_024411.4(PDYN):c.-358G>A rs745377265 0.00006
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=) rs201174299 0.00005
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=) rs200375220 0.00005
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=) rs144921184 0.00005
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr) rs767787371 0.00005
NM_001378452.1(ITPR1):c.6579C>A (p.Ala2193=) rs35343277 0.00005
NM_001378452.1(ITPR1):c.693C>T (p.Asp231=) rs545754582 0.00005
NM_006946.4(SPTBN2):c.2162G>A (p.Arg721His) rs200016211 0.00005
NM_006946.4(SPTBN2):c.3823C>T (p.Arg1275Trp) rs148878156 0.00005
NM_006946.4(SPTBN2):c.4120G>A (p.Ala1374Thr) rs199675740 0.00005
NM_006946.4(SPTBN2):c.6266G>A (p.Arg2089Lys) rs569905004 0.00005
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=) rs200903643 0.00004
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) rs374214760 0.00004
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val) rs150118849 0.00004
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=) rs536121075 0.00004
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His) rs912429154 0.00004
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=) rs375687099 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_001378452.1(ITPR1):c.5691T>C (p.Asp1897=) rs371661663 0.00004
NM_001378452.1(ITPR1):c.6808+8C>G rs2270749 0.00004
NM_001378452.1(ITPR1):c.709-6T>C rs374932152 0.00004
NM_002739.5(PRKCG):c.1529C>A (p.Thr510Lys) rs749199519 0.00004
NM_005245.4(FAT1):c.6808G>A (p.Asp2270Asn) rs200538725 0.00004
NM_006946.4(SPTBN2):c.*228dup rs886048544 0.00004
NM_006946.4(SPTBN2):c.1281C>T (p.Ala427=) rs374787500 0.00004
NM_006946.4(SPTBN2):c.1720G>A (p.Glu574Lys) rs372241839 0.00004
NM_006946.4(SPTBN2):c.3795C>T (p.Asp1265=) rs141779130 0.00004
NM_006946.4(SPTBN2):c.5804G>A (p.Arg1935His) rs145750214 0.00004
NM_006946.4(SPTBN2):c.924G>C (p.Glu308Asp) rs564046722 0.00004
NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=) rs17540728 0.00003
NM_001376.5(DYNC1H1):c.11460+12G>A rs17512790 0.00003
NM_001376.5(DYNC1H1):c.11460+4G>A rs201518717 0.00003
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=) rs767564445 0.00003
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val) rs772070566 0.00003
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn) rs755333803 0.00003
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg) rs774004189 0.00003
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530 0.00003
NM_001378452.1(ITPR1):c.4926C>T (p.Pro1642=) rs886058616 0.00003
NM_001378452.1(ITPR1):c.5875G>A (p.Asp1959Asn) rs773864227 0.00003
NM_001378452.1(ITPR1):c.625-14A>T rs368114873 0.00003
NM_005245.4(FAT1):c.544G>A (p.Gly182Arg) rs1425607166 0.00003
NM_006946.4(SPTBN2):c.1839G>A (p.Ser613=) rs774265056 0.00003
NM_024411.4(PDYN):c.-286G>C rs886056538 0.00003
NM_001376.5(DYNC1H1):c.*108G>A rs886050378 0.00002
NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=) rs763119040 0.00002
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=) rs35143882 0.00002
NM_001376.5(DYNC1H1):c.11056-10A>G rs751676054 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_001376.5(DYNC1H1):c.2352C>T (p.Ser784=) rs149028205 0.00002
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=) rs755543897 0.00002
NM_001376.5(DYNC1H1):c.5424A>G (p.Leu1808=) rs770425304 0.00002
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=) rs776544497 0.00002
NM_001376.5(DYNC1H1):c.6883C>G (p.Leu2295Val) rs1412108587 0.00002
NM_001376.5(DYNC1H1):c.6884T>G (p.Leu2295Arg) rs1422291997 0.00002
NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=) rs200885538 0.00002
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys) rs773658296 0.00002
NM_001378452.1(ITPR1):c.-244G>A rs577585180 0.00002
NM_001378452.1(ITPR1):c.1671C>T (p.Tyr557=) rs886058613 0.00002
NM_001378452.1(ITPR1):c.1714-12C>T rs765853714 0.00002
NM_001378452.1(ITPR1):c.195C>G (p.Arg65=) rs563347395 0.00002
NM_001378452.1(ITPR1):c.2340G>A (p.Ala780=) rs748274420 0.00002
NM_001378452.1(ITPR1):c.3514C>G (p.Pro1172Ala) rs773251870 0.00002
NM_001378452.1(ITPR1):c.3659C>T (p.Ala1220Val) rs773701050 0.00002
NM_001378452.1(ITPR1):c.5055A>C (p.Leu1685=) rs886058618 0.00002
NM_001378452.1(ITPR1):c.5403C>T (p.Ala1801=) rs765524918 0.00002
NM_001378452.1(ITPR1):c.5974C>T (p.Leu1992=) rs748401794 0.00002
NM_001378452.1(ITPR1):c.6817G>A (p.Val2273Met) rs767779223 0.00002
NM_001378452.1(ITPR1):c.8248A>G (p.Met2750Val) rs201934670 0.00002
NM_002222.6(ITPR1):c.*1311G>A rs772889585 0.00002
NM_006796.3(AFG3L2):c.-56C>A rs886053619 0.00002
NM_006946.4(SPTBN2):c.3048C>T (p.Gly1016=) rs540897209 0.00002
NM_006946.4(SPTBN2):c.4330G>A (p.Ala1444Thr) rs765561071 0.00002
NM_006946.4(SPTBN2):c.6566C>T (p.Pro2189Leu) rs376249009 0.00002
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=) rs200735835 0.00001
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=) rs199792795 0.00001
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=) rs529010293 0.00001
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met) rs1376784009 0.00001
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=) rs886050377 0.00001
NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=) rs1024563256 0.00001
NM_001376.5(DYNC1H1):c.2719-15T>C rs748772899 0.00001
NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=) rs527943422 0.00001
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=) rs2273439 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.4959C>T (p.His1653=) rs773425996 0.00001
NM_001376.5(DYNC1H1):c.5050G>A (p.Val1684Ile) rs781664182 0.00001
NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=) rs2048183675 0.00001
NM_001376.5(DYNC1H1):c.5472C>T (p.Ser1824=) rs769577090 0.00001
NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=) rs1184080545 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_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=) rs201817995 0.00001
NM_001378452.1(ITPR1):c.*1061T>G rs886058652 0.00001
NM_001378452.1(ITPR1):c.*740T>C rs886058650 0.00001
NM_001378452.1(ITPR1):c.*816C>T rs775011992 0.00001
NM_001378452.1(ITPR1):c.-158C>G rs886058523 0.00001
NM_001378452.1(ITPR1):c.-342C>T rs886058522 0.00001
NM_001378452.1(ITPR1):c.-63C>T rs889404498 0.00001
NM_001378452.1(ITPR1):c.1260C>G (p.Thr420=) rs760762106 0.00001
NM_001378452.1(ITPR1):c.1497C>T (p.Phe499=) rs778521012 0.00001
NM_001378452.1(ITPR1):c.2006+13C>A rs1181863539 0.00001
NM_001378452.1(ITPR1):c.2320C>T (p.Leu774=) rs779948053 0.00001
NM_001378452.1(ITPR1):c.2862G>A (p.Met954Ile) rs543514234 0.00001
NM_001378452.1(ITPR1):c.2880C>T (p.Ala960=) rs764301997 0.00001
NM_001378452.1(ITPR1):c.2929G>A (p.Val977Ile) rs370220353 0.00001
NM_001378452.1(ITPR1):c.3162-9C>T rs1159582623 0.00001
NM_001378452.1(ITPR1):c.3228C>T (p.His1076=) rs766131451 0.00001
NM_001378452.1(ITPR1):c.3327+10G>T rs757492529 0.00001
NM_001378452.1(ITPR1):c.3555G>A (p.Val1185=) rs764767201 0.00001
NM_001378452.1(ITPR1):c.3564+9C>T rs564799796 0.00001
NM_001378452.1(ITPR1):c.3648G>A (p.Arg1216=) rs540908870 0.00001
NM_001378452.1(ITPR1):c.474G>A (p.Gly158=) rs886058578 0.00001
NM_001378452.1(ITPR1):c.4785C>T (p.Arg1595=) rs2094755597 0.00001
NM_001378452.1(ITPR1):c.5001G>A (p.Lys1667=) rs1396361560 0.00001
NM_001378452.1(ITPR1):c.5344G>A (p.Gly1782Arg) rs886058619 0.00001
NM_001378452.1(ITPR1):c.6135G>A (p.Leu2045=) rs754434409 0.00001
NM_001378452.1(ITPR1):c.7701+3A>G rs533303665 0.00001
NM_001378452.1(ITPR1):c.819A>G (p.Thr273=) rs886058580 0.00001
NM_001395333.1(MTCL1):c.1777C>T (p.Arg593Cys) rs758581749 0.00001
NM_001429.4(EP300):c.214C>A (p.Gln72Lys) rs539635560 0.00001
NM_002222.6(ITPR1):c.*1481delG rs886058656 0.00001
NM_002739.5(PRKCG):c.-169G>C rs777064041 0.00001
NM_006946.4(SPTBN2):c.2412C>T (p.Asp804=) rs770555771 0.00001
NM_006946.4(SPTBN2):c.2683G>A (p.Glu895Lys) rs145702618 0.00001
NM_006946.4(SPTBN2):c.2685G>A (p.Glu895=) rs758091474 0.00001
NM_006946.4(SPTBN2):c.3453A>G (p.Gly1151=) rs768932281 0.00001
NM_006946.4(SPTBN2):c.3972C>T (p.Ala1324=) rs886048550 0.00001
NM_006946.4(SPTBN2):c.4714C>T (p.Arg1572Cys) rs368125962 0.00001
NM_006946.4(SPTBN2):c.5248C>A (p.Arg1750Ser) rs886048548 0.00001
NM_006946.4(SPTBN2):c.54G>A (p.Gln18=) rs377573278 0.00001
NM_006946.4(SPTBN2):c.57C>T (p.Tyr19=) rs749188722 0.00001
NM_006946.4(SPTBN2):c.6757G>A (p.Gly2253Arg) rs201670045 0.00001
NM_001376.4(DYNC1H1):c.-122C>T rs566619022
NM_001376.5(DYNC1H1):c.*194C>G rs566606862
NM_001376.5(DYNC1H1):c.*70T>C rs1047475161
NM_001376.5(DYNC1H1):c.-90C>T rs1256118131
NM_001376.5(DYNC1H1):c.10320G>A (p.Leu3440=) rs886050371
NM_001376.5(DYNC1H1):c.10752T>C (p.Asn3584=) rs181445947
NM_001376.5(DYNC1H1):c.10754+11G>A rs886050372
NM_001376.5(DYNC1H1):c.10800T>C (p.Ile3600=) rs886050373
NM_001376.5(DYNC1H1):c.10843C>T (p.Leu3615=) rs886050374
NM_001376.5(DYNC1H1):c.10858A>G (p.Arg3620Gly) rs2048578052
NM_001376.5(DYNC1H1):c.11132A>G (p.Gln3711Arg) rs886050375
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=) rs567247522
NM_001376.5(DYNC1H1):c.11609G>A (p.Arg3870Gln) rs2048621150
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=) rs777166781
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=) rs143574214
NM_001376.5(DYNC1H1):c.12887T>C (p.Met4296Thr) rs886050376
NM_001376.5(DYNC1H1):c.13203C>T (p.Thr4401=) rs138022242
NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=) rs961375016
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=) rs138571942
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val) rs1391196036
NM_001376.5(DYNC1H1):c.2922A>C (p.Pro974=) rs963837216
NM_001376.5(DYNC1H1):c.3699G>T (p.Gln1233His) rs2048072049
NM_001376.5(DYNC1H1):c.4279T>C (p.Ser1427Pro) rs2048126886
NM_001376.5(DYNC1H1):c.4647T>G (p.Gly1549=) rs1595609824
NM_001376.5(DYNC1H1):c.5049+15G>A rs975753572
NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=) rs886050368
NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile) rs879253937
NM_001376.5(DYNC1H1):c.5523G>A (p.Gln1841=) rs2048192586
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=) rs898083162
NM_001376.5(DYNC1H1):c.6711G>A (p.Leu2237=) rs886050369
NM_001376.5(DYNC1H1):c.7014+11T>A rs748466861
NM_001376.5(DYNC1H1):c.7127A>G (p.Asn2376Ser) rs775274723
NM_001376.5(DYNC1H1):c.7442T>C (p.Met2481Thr) rs2048317566
NM_001376.5(DYNC1H1):c.8177+12C>T rs367551573
NM_001376.5(DYNC1H1):c.8178-12A>T rs538986139
NM_001376.5(DYNC1H1):c.8808T>A (p.Ile2936=) rs886050370
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=) rs34338935
NM_001376.5(DYNC1H1):c.9503C>T (p.Thr3168Met) rs2048487270
NM_001378452.1(ITPR1):c.*1076TTCTT[1] rs886058653
NM_001378452.1(ITPR1):c.*1169_*1170insAA rs752544427
NM_001378452.1(ITPR1):c.*1169_*1170insAAA rs752544427
NM_001378452.1(ITPR1):c.*1182_*1184A[5]CAAA[1] rs1553771554
NM_001378452.1(ITPR1):c.*1183_*1184dup rs3079679
NM_001378452.1(ITPR1):c.*1184del rs3079679
NM_001378452.1(ITPR1):c.*1266G>A rs886058655
NM_001378452.1(ITPR1):c.*13A>T rs886058644
NM_001378452.1(ITPR1):c.*312G>A rs886058646
NM_001378452.1(ITPR1):c.*356TG[1] rs113825412
NM_001378452.1(ITPR1):c.*472T>G rs2051804981
NM_001378452.1(ITPR1):c.*539_*540dup rs886058648
NM_001378452.1(ITPR1):c.*549G>T rs781519977
NM_001378452.1(ITPR1):c.*592T>G rs2051813316
NM_001378452.1(ITPR1):c.*668T>C rs886058649
NM_001378452.1(ITPR1):c.*814_*817dup rs148070806
NM_001378452.1(ITPR1):c.*879T>C rs1428879075
NM_001378452.1(ITPR1):c.*970C>A rs2051846001
NM_001378452.1(ITPR1):c.-103C>T rs750565307
NM_001378452.1(ITPR1):c.-143C>A rs886058524
NM_001378452.1(ITPR1):c.-2A>G rs369723935
NM_001378452.1(ITPR1):c.-315C>T rs572878578
NM_001378452.1(ITPR1):c.-341A>T rs565843811
NM_001378452.1(ITPR1):c.1028G>A (p.Arg343Lys) rs779003637
NM_001378452.1(ITPR1):c.1125G>A (p.Leu375=) rs2306869
NM_001378452.1(ITPR1):c.1125G>C (p.Leu375=) rs2306869
NM_001378452.1(ITPR1):c.1297G>A (p.Val433Ile) rs2093848251
NM_001378452.1(ITPR1):c.1353G>C (p.Lys451Asn) rs2093849179
NM_001378452.1(ITPR1):c.1412+6C>T rs2093850197
NM_001378452.1(ITPR1):c.1413-15G>A rs148675260
NM_001378452.1(ITPR1):c.1623C>T (p.Leu541=) rs886058612
NM_001378452.1(ITPR1):c.1697A>G (p.Asp566Gly) rs2093921786
NM_001378452.1(ITPR1):c.2204+14G>A rs529693973
NM_001378452.1(ITPR1):c.2327A>G (p.Tyr776Cys) rs961418831
NM_001378452.1(ITPR1):c.2427G>A (p.Ser809=) rs553559062
NM_001378452.1(ITPR1):c.2686T>G (p.Leu896Val) rs111670385
NM_001378452.1(ITPR1):c.2940C>G (p.Thr980=) rs886058614
NM_001378452.1(ITPR1):c.3066C>G (p.Ser1022=) rs541386070
NM_001378452.1(ITPR1):c.366+15C>T rs145989158
NM_001378452.1(ITPR1):c.3705C>G (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.3873C>T (p.Phe1291=) rs567943387
NM_001378452.1(ITPR1):c.3944A>G (p.Asn1315Ser) rs1159285250
NM_001378452.1(ITPR1):c.4225C>T (p.Leu1409=) rs2094513887
NM_001378452.1(ITPR1):c.4227G>C (p.Leu1409=) rs555819278
NM_001378452.1(ITPR1):c.4669G>T (p.Ala1557Ser) rs886058615
NM_001378452.1(ITPR1):c.48T>A (p.Ser16=) rs2082182114
NM_001378452.1(ITPR1):c.4992-7del rs546612625
NM_001378452.1(ITPR1):c.5014C>T (p.Leu1672=) rs2041390618
NM_001378452.1(ITPR1):c.508C>T (p.Arg170Ter) rs886058579
NM_001378452.1(ITPR1):c.5282G>A (p.Arg1761Gln) rs2291864
NM_001378452.1(ITPR1):c.5487C>T (p.Phe1829=) rs774018521
NM_001378452.1(ITPR1):c.5529C>G (p.Gly1843=) rs776891199
NM_001378452.1(ITPR1):c.5664T>A (p.Ser1888Arg) rs2125373123
NM_001378452.1(ITPR1):c.5725+15G>A rs2045841537
NM_001378452.1(ITPR1):c.5970A>T (p.Arg1990=) rs1157485528
NM_001378452.1(ITPR1):c.6383A>T (p.Glu2128Val) rs2046693194
NM_001378452.1(ITPR1):c.6539G>A (p.Ser2180Asn) rs886058620
NM_001378452.1(ITPR1):c.7562-11C>T rs368532017
NM_001378452.1(ITPR1):c.7677T>C (p.Asp2559=) rs886058626
NM_001378452.1(ITPR1):c.7965G>A (p.Leu2655=) rs775463557
NM_001378452.1(ITPR1):c.8187T>C (p.Asp2729=) rs2050964614
NM_001378452.1(ITPR1):c.8190+13_8190+14del rs552585900
NM_002222.6(ITPR1):c.*1366C>A rs146958900
NM_002222.6(ITPR1):c.*1366C>T rs146958900
NM_002222.6(ITPR1):c.*1531G>A rs9817206
NM_002222.6(ITPR1):c.*1531G>T rs9817206
NM_002739.5(PRKCG):c.*59dup rs144706041
NM_004115.4(FGF14):c.*101_*104del rs886049937
NM_004115.4(FGF14):c.*1058_*1062dup rs577253536
NM_004115.4(FGF14):c.*1387_*1390dup rs10626847
NM_004115.4(FGF14):c.*1445_*1446dup rs141506954
NM_004115.4(FGF14):c.*1609_*1612del rs747506157
NM_004115.4(FGF14):c.*176dup rs144061152
NM_004115.4(FGF14):c.*1886_*1889dup rs559888067
NM_004115.4(FGF14):c.*794GT[4] rs371464074
NM_004115.4(FGF14):c.*919_*922dup rs768342824
NM_004115.4(FGF14):c.*971_*972dup rs34628929
NM_004115.4(FGF14):c.*972del rs34628929
NM_004115.4(FGF14):c.*972dup rs34628929
NM_005245.4(FAT1):c.5762G>T (p.Gly1921Val) rs2126519477
NM_006133.3(DAGLA):c.2437_2446del (p.Leu813fs)
NM_006796.3(AFG3L2):c.215-11_215-6del rs533823759
NM_006796.3(AFG3L2):c.293-14_293-13del rs556473698
NM_006946.4(SPTBN2):c.1827G>T (p.Pro609=) rs776570497
NM_006946.4(SPTBN2):c.207G>T (p.Ser69=) rs748341964
NM_006946.4(SPTBN2):c.2445C>T (p.Pro815=) rs766115824
NM_006946.4(SPTBN2):c.3765C>T (p.Ser1255=) rs886048551
NM_006946.4(SPTBN2):c.476G>A (p.Arg159Gln) rs886048552
NM_006946.4(SPTBN2):c.5067C>A (p.Arg1689=) rs886048549
NM_006946.4(SPTBN2):c.5871G>C (p.Glu1957Asp) rs886048547
NM_006946.4(SPTBN2):c.6220A>C (p.Lys2074Gln) rs541138596
NM_006946.4(SPTBN2):c.6431C>T (p.Thr2144Ile) rs886048546
NM_006946.4(SPTBN2):c.6674T>C (p.Leu2225Pro) rs886048545
NM_006946.4(SPTBN2):c.6735C>T (p.Asn2245=) rs750664912
NM_018012.4(KIF26B):c.1340G>A (p.Gly447Glu) rs2103102844
NM_018012.4(KIF26B):c.2023G>C (p.Asp675His) rs752143373
NM_018012.4(KIF26B):c.5710G>A (p.Asp1904Asn) rs749953234
NM_024411.4(PDYN):c.-402C>G rs775379753
NM_024411.5(PDYN):c.*449_*459delinsTAA rs886056533
NM_024411.5(PDYN):c.*700_*703del rs572674195
NM_130837.3(OPA1):c.460A>T (p.Lys154Ter)
NM_173500.4(TTBK2):c.*690dup rs886051160
NM_173500.4(TTBK2):c.-281GCC[5] rs377202784
NM_198994.3(TGM6):c.1953_1955dup (p.Gln652dup) rs557817405

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