ClinVar Miner

List of variants studied for ocular motility disease

Included ClinVar conditions (160):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 990
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HGVS dbSNP gnomAD frequency
NM_004618.5(TOP3A):c.1282-21G>A rs6502645 0.98602
NM_001151.4(SLC25A4):c.*512A>G rs7660552 0.90870
NM_002936.6(RNASEH1):c.409+34C>A rs7563960 0.69067
NM_080916.3(DGUOK):c.*13A>T rs4777 0.57593
NM_002693.3(POLG):c.2071-22T>C rs2072267 0.56891
NM_002693.3(POLG):c.3483-19T>G rs2307438 0.44213
NM_001151.4(SLC25A4):c.*2307T>C rs2046535 0.42438
NM_001151.4(SLC25A4):c.*2943G>A rs7675110 0.42427
NM_001151.4(SLC25A4):c.*1053T>C rs55905558 0.42184
NM_002936.6(RNASEH1):c.498A>G (p.Pro166=) rs10186193 0.41265
NM_004618.5(TOP3A):c.391-10C>T rs7207123 0.39970
NM_021830.5(TWNK):c.-605G>T rs3740484 0.35155
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_194277.3(FRMD7):c.*665A>T rs3764771 0.32838
NM_194277.3(FRMD7):c.1533T>C (p.Ile511=) rs5977623 0.32355
NM_002693.3(POLG):c.3105-36A>G rs2246900 0.31986
NM_004618.5(TOP3A):c.2022-39C>A rs6502644 0.31103
NM_001173464.2(KIF21A):c.*472A>G rs11171674 0.29577
NM_001173464.2(KIF21A):c.*237A>G rs11171675 0.29569
NM_007215.4(POLG2):c.-81T>C rs9897606 0.29384
NM_007215.4(POLG2):c.505G>A (p.Ala169Thr) rs1427463 0.29359
NM_007215.4(POLG2):c.1110+44T>C rs7223078 0.29352
NM_001080449.3(DNA2):c.507C>A (p.Ala169=) rs3758626 0.28903
NM_021830.5(TWNK):c.*766A>T rs3740488 0.28823
NM_021830.5(TWNK):c.1593-5C>T rs3740485 0.28642
NM_021830.5(TWNK):c.1593-3T>C rs3740486 0.28631
NM_004618.5(TOP3A):c.1527C>T (p.Asp509=) rs2230154 0.26761
NM_004614.5(TK2):c.-38A>G rs3743716 0.25659
NM_004618.5(TOP3A):c.916-49G>A rs2294913 0.21931
NM_004614.5(TK2):c.619-53A>G rs2241619 0.13547
NM_015713.5(RRM2B):c.*732A>G rs16869269 0.11676
NM_015713.5(RRM2B):c.*866T>G rs29000286 0.11598
NM_015713.5(RRM2B):c.*1673T>G rs16918482 0.11578
NM_015713.5(RRM2B):c.*1488G>C rs1265116 0.10011
NM_194277.3(FRMD7):c.*816G>A rs41312755 0.09070
NM_194277.3(FRMD7):c.1101T>C (p.Asn367=) rs7051368 0.08904
NM_007215.4(POLG2):c.1269C>T (p.Ser423=) rs61733782 0.08470
NM_194277.3(FRMD7):c.69C>T (p.Ser23=) rs5930546 0.08423
NM_021830.5(TWNK):c.*521C>G rs11542131 0.08029
NM_015713.4(RRM2B):c.-88C>A rs72554091 0.07833
NM_017641.3(KIF21A):c.-313G>A rs11835359 0.06971
NM_001173464.2(KIF21A):c.*418A>G rs77242017 0.06929
NM_015713.5(RRM2B):c.*998A>G rs3907099 0.06791
NM_015713.5(RRM2B):c.*3593G>A rs29000294 0.06703
NM_015713.5(RRM2B):c.*1277A>T rs5005121 0.06698
NM_015713.5(RRM2B):c.*2666T>C rs3735721 0.06688
NM_194277.3(FRMD7):c.842C>T (p.Ser281Leu) rs5977625 0.06625
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_194277.3(FRMD7):c.1403G>A (p.Arg468His) rs6637934 0.05794
NM_015713.5(RRM2B):c.*3527G>A rs1052071 0.05633
NM_015713.5(RRM2B):c.*3463C>T rs1052069 0.05623
NM_001173464.2(KIF21A):c.4768C>T (p.Leu1590=) rs2271477 0.05003
NM_015713.5(RRM2B):c.*1121T>C rs4102401 0.04883
NM_015713.5(RRM2B):c.*3395C>G rs11575866 0.04883
NM_015713.5(RRM2B):c.*2879A>G rs3204695 0.04874
NM_001151.4(SLC25A4):c.-25G>A rs3733652 0.04735
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) rs17113613 0.04615
NM_001173464.2(KIF21A):c.3711G>T (p.Glu1237Asp) rs75223821 0.04314
NM_001173464.2(KIF21A):c.1880G>T (p.Gly627Val) rs79089655 0.03351
NM_015713.5(RRM2B):c.*2097T>A rs116394626 0.03190
NM_015713.5(RRM2B):c.*2035A>G rs1055958 0.03186
NM_017641.3(KIF21A):c.-165G>T rs111306046 0.03008
NM_001151.4(SLC25A4):c.*873G>A rs76680834 0.02960
NM_194277.3(FRMD7):c.383-11C>T rs56029310 0.02920
NM_015713.5(RRM2B):c.207C>T (p.Val69=) rs28999710 0.02727
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_015713.4(RRM2B):c.-153G>T rs2290707 0.02697
NM_004618.5(TOP3A):c.315-4C>G rs7217776 0.02640
NM_001151.4(SLC25A4):c.*3114C>A rs147626367 0.02525
NM_015713.4(RRM2B):c.-103G>A rs7844478 0.02404
NM_194277.3(FRMD7):c.*434C>T rs5975315 0.02249
NM_001173464.2(KIF21A):c.1335G>T (p.Thr445=) rs61740919 0.01740
NM_001151.4(SLC25A4):c.*957T>C rs11930741 0.01671
NM_001151.4(SLC25A4):c.*2050A>G rs76364770 0.01609
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_021830.5(TWNK):c.*204G>A rs61871507 0.01328
NM_015713.5(RRM2B):c.*1953A>G rs11987823 0.01309
NM_015713.5(RRM2B):c.*2136G>A rs139212686 0.01300
NM_001080449.3(DNA2):c.888G>A (p.Pro296=) rs16925390 0.01237
NM_015713.5(RRM2B):c.*3555T>C rs29000293 0.01078
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala) rs17850455 0.01048
NM_001151.4(SLC25A4):c.681G>A (p.Val227=) rs34486484 0.00972
NM_015713.5(RRM2B):c.48+273G>T rs149523343 0.00928
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) rs149101873 0.00911
NM_002693.3(POLG):c.1586-5del rs2307434 0.00891
NM_002693.3(POLG):c.2109C>A (p.Ala703=) rs2307429 0.00845
NM_001173464.2(KIF21A):c.1628A>G (p.Lys543Arg) rs149219011 0.00766
NM_021830.5(TWNK):c.-241C>T rs113159821 0.00734
NM_001080449.3(DNA2):c.1649A>G (p.Asn550Ser) rs141731085 0.00726
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_001080449.3(DNA2):c.295T>C (p.Leu99=) rs140077857 0.00675
NM_194277.3(FRMD7):c.1558C>G (p.His520Asp) rs61742429 0.00645
NM_001151.4(SLC25A4):c.*2476G>A rs76335670 0.00573
NM_001173464.2(KIF21A):c.1469+10A>G rs73266501 0.00562
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_004618.5(TOP3A):c.180+10C>G rs17805992 0.00515
NM_015713.5(RRM2B):c.*190T>C rs60624814 0.00487
NM_004614.5(TK2):c.231+10C>T rs187517309 0.00486
NM_015713.5(RRM2B):c.*1351T>C rs114108597 0.00478
NM_021830.5(TWNK):c.*455C>T rs148810959 0.00460
NM_021830.5(TWNK):c.-650A>G rs187213541 0.00454
NM_001173464.2(KIF21A):c.2541A>G (p.Lys847=) rs145897823 0.00402
NM_001151.4(SLC25A4):c.*2529C>T rs113950388 0.00401
NM_001173464.2(KIF21A):c.*447A>G rs74088336 0.00401
NM_007215.4(POLG2):c.397C>T (p.His133Tyr) rs112984118 0.00371
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_004618.5(TOP3A):c.2317A>G (p.Asn773Asp) rs9911283 0.00364
NM_001173464.2(KIF21A):c.4542C>G (p.Ser1514=) rs11171689 0.00359
NM_002693.3(POLG):c.1126C>T (p.Leu376=) rs116165908 0.00347
NM_015713.5(RRM2B):c.*2151_*2152insA rs563908556 0.00332
NM_017641.3(KIF21A):c.-210C>T rs113038492 0.00288
NM_021830.5(TWNK):c.*301C>T rs41291468 0.00264
NM_194277.3(FRMD7):c.1473G>T (p.Met491Ile) rs181962233 0.00249
NM_194277.3(FRMD7):c.*600C>G rs750133372 0.00247
NM_001173464.2(KIF21A):c.3149A>G (p.Asn1050Ser) rs142268373 0.00239
NM_007215.4(POLG2):c.1158T>G (p.Asp386Glu) rs61751983 0.00235
NM_194277.3(FRMD7):c.*730A>G rs41300293 0.00231
NM_001173464.2(KIF21A):c.1240G>C (p.Gly414Arg) rs78616703 0.00229
NM_021830.5(TWNK):c.*419A>T rs187553791 0.00223
NM_001173464.2(KIF21A):c.903T>A (p.Leu301=) rs78806233 0.00220
NM_001151.4(SLC25A4):c.*1792C>A rs3733653 0.00213
NM_002693.3(POLG):c.1174C>G (p.Leu392Val) rs145289229 0.00194
NM_001173464.2(KIF21A):c.*71C>G rs111409014 0.00191
NM_001173464.2(KIF21A):c.3332T>C (p.Val1111Ala) rs150294289 0.00179
NM_015713.5(RRM2B):c.48+265C>G rs550765773 0.00178
NM_015713.5(RRM2B):c.*3078G>T rs113860402 0.00168
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_015713.5(RRM2B):c.*817G>A rs190474682 0.00166
NM_001151.3(SLC25A4):c.-108C>T rs3733651 0.00164
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_001173464.2(KIF21A):c.*707A>G rs536139187 0.00159
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_001151.4(SLC25A4):c.*173_*174del rs112970805 0.00148
NM_001173464.2(KIF21A):c.1713-11C>G rs142304324 0.00142
NM_015713.5(RRM2B):c.48+48C>T rs201028777 0.00142
NM_001173464.2(KIF21A):c.-19A>G rs139423015 0.00135
NM_001173464.2(KIF21A):c.3118C>T (p.Leu1040=) rs79512568 0.00135
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_001151.4(SLC25A4):c.*1985T>C rs3733654 0.00133
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810 0.00126
NM_021830.5(TWNK):c.1735-14C>A rs201795189 0.00121
NM_015713.5(RRM2B):c.*11G>A rs29000285 0.00109
NM_015713.5(RRM2B):c.685-20A>T rs142382577 0.00104
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_001173464.2(KIF21A):c.3641C>G (p.Pro1214Arg) rs149075970 0.00092
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_001173464.2(KIF21A):c.*812T>C rs532231850 0.00090
NM_017641.3(KIF21A):c.-240G>C rs562588358 0.00089
NM_017641.3(KIF21A):c.-257C>A rs529777052 0.00088
NM_001173464.2(KIF21A):c.4515T>G (p.Ser1505Arg) rs62000373 0.00087
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_015713.5(RRM2B):c.*1596T>C rs182874090 0.00086
NM_001173464.2(KIF21A):c.2487+5A>T rs376142046 0.00083
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_001151.4(SLC25A4):c.252C>T (p.Thr84=) rs145413043 0.00074
NM_001173464.2(KIF21A):c.*645T>G rs554887830 0.00071
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_001151.4(SLC25A4):c.-103C>T rs190592847 0.00067
NM_194277.3(FRMD7):c.*573G>T rs963218129 0.00064
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) rs150233690 0.00062
NM_015713.5(RRM2B):c.*1510T>C rs577176343 0.00062
NM_015713.5(RRM2B):c.551-18C>T rs72554100 0.00062
NM_194277.3(FRMD7):c.383-14T>C rs373900493 0.00062
NM_001173464.2(KIF21A):c.*582G>A rs767760567 0.00058
NM_001151.4(SLC25A4):c.*3195T>C rs182549219 0.00056
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_002941.4(ROBO1):c.4565C>T (p.Ser1522Leu) rs199958211 0.00055
NM_001151.4(SLC25A4):c.*2466C>A rs142255349 0.00054
NM_194277.3(FRMD7):c.-14C>T rs200222913 0.00054
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_015713.5(RRM2B):c.*2822A>T rs189278573 0.00051
NM_015713.5(RRM2B):c.*1601A>G rs140164634 0.00048
NM_021830.5(TWNK):c.*709C>G rs41291470 0.00046
NM_001151.4(SLC25A4):c.*2824G>C rs371093501 0.00045
NM_001173464.2(KIF21A):c.*451A>G rs183559712 0.00045
NM_001173464.2(KIF21A):c.975T>C (p.Asp325=) rs143790968 0.00045
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280 0.00045
NM_001173464.2(KIF21A):c.3959G>A (p.Arg1320Lys) rs142879430 0.00044
NM_015713.5(RRM2B):c.*2236A>T rs566194929 0.00044
NM_017641.3(KIF21A):c.-345G>A rs886049353 0.00044
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala) rs184770596 0.00044
NM_001151.4(SLC25A4):c.*3110G>C rs116996106 0.00042
NM_001173464.2(KIF21A):c.4536T>C (p.Thr1512=) rs144103791 0.00042
NM_001151.4(SLC25A4):c.*1245T>A rs77959660 0.00041
NM_001173464.2(KIF21A):c.1038A>G (p.Ala346=) rs148354450 0.00041
NM_015713.5(RRM2B):c.540A>G (p.Lys180=) rs200301242 0.00041
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) rs577209883 0.00041
NM_021830.5(TWNK):c.*453G>A rs769950933 0.00040
NM_001173464.2(KIF21A):c.2684C>T (p.Pro895Leu) rs149718388 0.00039
NM_015713.5(RRM2B):c.*869G>T rs771055735 0.00039
NM_001173464.2(KIF21A):c.3111C>T (p.Ala1037=) rs145404005 0.00036
NM_001151.4(SLC25A4):c.*3317G>A rs752130203 0.00034
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_021830.5(TWNK):c.241C>G (p.Leu81Val) rs145068570 0.00033
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) rs551708243 0.00032
NM_001173464.2(KIF21A):c.1776G>A (p.Ser592=) rs143782701 0.00031
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_021830.5(TWNK):c.1527C>T (p.Asp509=) rs62626272 0.00028
NM_001173464.2(KIF21A):c.2660C>T (p.Ala887Val) rs145318959 0.00027
NM_194277.3(FRMD7):c.284+10T>G rs6634867 0.00027
NM_002693.3(POLG):c.328C>T (p.His110Tyr) rs139599587 0.00026
NM_015713.5(RRM2B):c.*3266G>T rs746260787 0.00026
NM_021830.5(TWNK):c.-592C>T rs774214514 0.00026
NM_001151.4(SLC25A4):c.*3229A>G rs962471297 0.00024
NM_001151.4(SLC25A4):c.*1546T>C rs762473759 0.00023
NM_007215.4(POLG2):c.457C>G (p.Leu153Val) rs149446102 0.00023
NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys) rs376823382 0.00022
NM_001173464.2(KIF21A):c.4044A>G (p.Lys1348=) rs201297981 0.00022
NM_001173464.2(KIF21A):c.1542G>A (p.Ala514=) rs199973182 0.00021
NM_001173464.2(KIF21A):c.608A>G (p.Gln203Arg) rs149328427 0.00021
NM_002693.3(POLG):c.2369G>A (p.Arg790His) rs191490663 0.00021
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271 0.00021
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) rs144001072 0.00021
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978 0.00021
NM_001151.4(SLC25A4):c.*1163G>T rs886059272 0.00019
NM_001151.4(SLC25A4):c.*2616C>T rs769378373 0.00018
NM_015713.5(RRM2B):c.*1867C>T rs572149875 0.00018
NM_194277.3(FRMD7):c.*685T>C rs188431168 0.00018
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) rs200257554 0.00017
NM_001173464.2(KIF21A):c.-147C>A rs886049348 0.00016
NM_001173464.2(KIF21A):c.1804-15C>T rs376342352 0.00016
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_007215.4(POLG2):c.674G>A (p.Arg225Gln) rs148101254 0.00016
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_021830.5(TWNK):c.-418C>T rs750659283 0.00015
NM_021830.5(TWNK):c.1101C>T (p.Ile367=) rs200798080 0.00015
NM_001151.4(SLC25A4):c.*2697T>C rs768164742 0.00014
NM_001173464.2(KIF21A):c.-146G>A rs886049347 0.00014
NM_001173464.2(KIF21A):c.2305A>G (p.Thr769Ala) rs200645253 0.00014
NM_015713.5(RRM2B):c.790-8C>A rs376542259 0.00014
NM_021830.5(TWNK):c.*341G>A rs1007423847 0.00014
NM_198721.4(COL25A1):c.130G>A (p.Val44Met) rs201162812 0.00014
NM_001151.4(SLC25A4):c.*3276C>T rs187103619 0.00013
NM_004614.5(TK2):c.323C>T (p.Thr108Met) rs137854431 0.00013
NM_007215.4(POLG2):c.562+11C>T rs782336056 0.00013
NM_021830.5(TWNK):c.-290G>C rs62626270 0.00013
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser) rs368614463 0.00012
NM_194277.3(FRMD7):c.1643A>C (p.Gln548Pro) rs776519156 0.00012
NM_001151.4(SLC25A4):c.756G>A (p.Thr252=) rs150786764 0.00011
NM_001173464.2(KIF21A):c.162A>G (p.Val54=) rs754537818 0.00011
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_007215.4(POLG2):c.181G>A (p.Gly61Arg) rs144148008 0.00011
NM_015713.5(RRM2B):c.*2410C>A rs767476703 0.00011
NM_015713.5(RRM2B):c.*2722A>G rs543127762 0.00011
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_007215.4(POLG2):c.496C>G (p.Gln166Glu) rs370683331 0.00010
NM_015713.5(RRM2B):c.*2978A>G rs761021253 0.00010
NM_015713.5(RRM2B):c.*3118T>G rs1010967137 0.00010
NM_015713.5(RRM2B):c.*328G>A rs142449540 0.00010
NM_001151.4(SLC25A4):c.*3025G>A rs773137655 0.00009
NM_001151.4(SLC25A4):c.-65C>T rs1003618782 0.00009
NM_001173464.2(KIF21A):c.44+5G>A rs986920207 0.00009
NM_001173464.2(KIF21A):c.4562T>G (p.Met1521Arg) rs142038295 0.00009
NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) rs201192905 0.00009
NM_002693.3(POLG):c.460G>A (p.Ala154Thr) rs753858440 0.00009
NM_015713.5(RRM2B):c.*552G>A rs375924434 0.00009
NM_015713.5(RRM2B):c.790-9T>C rs573435546 0.00009
NM_017641.3(KIF21A):c.-339C>A rs886049352 0.00009
NM_021830.5(TWNK):c.-470G>A rs886046626 0.00009
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) rs369223258 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_194277.3(FRMD7):c.*285C>T rs766974170 0.00009
NM_194277.3(FRMD7):c.458G>A (p.Cys153Tyr) rs199857416 0.00009
NM_001173464.2(KIF21A):c.1851G>A (p.Glu617=) rs147473938 0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_002693.3(POLG):c.3075G>A (p.Leu1025=) rs146404260 0.00008
NM_002693.3(POLG):c.719C>T (p.Ser240Leu) rs369175235 0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494 0.00008
NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly) rs751144474 0.00008
NM_007215.4(POLG2):c.366G>T (p.Arg122Ser) rs781925329 0.00007
NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg) rs140638938 0.00006
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_001080449.3(DNA2):c.1909G>A (p.Val637Ile) rs746522359 0.00006
NM_001151.4(SLC25A4):c.*3277G>A rs886059277 0.00006
NM_001151.4(SLC25A4):c.*671A>G rs181474745 0.00006
NM_001173464.2(KIF21A):c.3320-4A>T rs371915160 0.00006
NM_001173464.2(KIF21A):c.4277C>T (p.Thr1426Met) rs781214904 0.00006
NM_001173464.2(KIF21A):c.825C>T (p.Leu275=) rs143876096 0.00006
NM_002693.3(POLG):c.1097G>C (p.Gly366Ala) rs757315161 0.00006
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp) rs78347903 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_002693.3(POLG):c.2601T>C (p.Pro867=) rs201749977 0.00006
NM_002693.3(POLG):c.346C>T (p.Pro116Ser) rs771676521 0.00006
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val) rs199751339 0.00006
NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter) rs200944917 0.00006
NM_015713.5(RRM2B):c.756G>A (p.Arg252=) rs377736828 0.00006
NM_021830.5(TWNK):c.-644A>T rs886046623 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_194277.3(FRMD7):c.*196G>C rs1057515770 0.00006
NM_194277.3(FRMD7):c.718A>G (p.Ile240Val) rs773037705 0.00006
NM_001151.4(SLC25A4):c.-46G>A rs763271934 0.00005
NM_002693.3(POLG):c.3104+1G>A rs138917386 0.00005
NM_007215.4(POLG2):c.-70T>C rs138418765 0.00005
NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala) rs767982852 0.00005
NM_015713.5(RRM2B):c.48+156G>A rs773501860 0.00005
NM_015713.5(RRM2B):c.544A>G (p.Thr182Ala) rs147315735 0.00005
NM_080916.3(DGUOK):c.591G>A (p.Gln197=) rs748597500 0.00005
NM_001151.4(SLC25A4):c.*2592C>T rs575736094 0.00004
NM_001151.4(SLC25A4):c.*3070C>T rs539027516 0.00004
NM_001151.4(SLC25A4):c.*3336G>A rs925362228 0.00004
NM_001151.4(SLC25A4):c.*448G>A rs767635362 0.00004
NM_001151.4(SLC25A4):c.*994G>A rs901529350 0.00004
NM_001173464.2(KIF21A):c.1886G>T (p.Ser629Ile) rs765856120 0.00004
NM_001379451.1(BCORL1):c.532A>G (p.Thr178Ala) rs778220343 0.00004
NM_002693.3(POLG):c.1433+1G>A rs771623994 0.00004
NM_002693.3(POLG):c.2069C>T (p.Thr690Met) rs201677865 0.00004
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu) rs776848222 0.00004
NM_002693.3(POLG):c.2509T>C (p.Tyr837His) rs544828395 0.00004
NM_002693.3(POLG):c.3104+3A>T rs778573169 0.00004
NM_002693.3(POLG):c.331G>C (p.Gly111Arg) rs760170099 0.00004
NM_002693.3(POLG):c.3425G>A (p.Arg1142Gln) rs536732038 0.00004
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val) rs148786642 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_004618.5(TOP3A):c.298A>G (p.Met100Val) rs376902371 0.00004
NM_015713.5(RRM2B):c.613A>G (p.Ile205Val) rs144088421 0.00004
NM_021830.5(TWNK):c.*234T>G rs886046633 0.00004
NM_021830.5(TWNK):c.*438G>C rs886046634 0.00004
NM_021830.5(TWNK):c.*561C>T rs901722933 0.00004
NM_021830.5(TWNK):c.*574C>T rs886046636 0.00004
NM_021830.5(TWNK):c.-549G>A rs886046625 0.00004
NM_021830.5(TWNK):c.1572C>T (p.His524=) rs774091248 0.00004
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) rs139124415 0.00004
NM_021830.5(TWNK):c.1953G>A (p.Lys651=) rs771310512 0.00004
NM_021830.5(TWNK):c.1958C>T (p.Ser653Phe) rs775046032 0.00004
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu) rs767175342 0.00004
NM_021830.5(TWNK):c.672T>C (p.Ala224=) rs368863664 0.00004
NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser) rs763615602 0.00004
NM_194277.3(FRMD7):c.1481A>G (p.Gln494Arg) rs199576118 0.00004
NM_194277.3(FRMD7):c.1799G>A (p.Arg600His) rs751994722 0.00004
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761 0.00003
NM_000273.3(GPR143):c.191C>T (p.Pro64Leu) rs936878316 0.00003
NM_001151.4(SLC25A4):c.*1217A>C rs1048884006 0.00003
NM_001151.4(SLC25A4):c.*2618C>G rs1271807284 0.00003
NM_001173464.2(KIF21A):c.*65G>A rs888970061 0.00003
NM_001173464.2(KIF21A):c.2310+10A>G rs201113357 0.00003
NM_001173464.2(KIF21A):c.568G>A (p.Val190Ile) rs141530856 0.00003
NM_001379500.1(COL18A1):c.929-2A>G rs765919785 0.00003
NM_002693.3(POLG):c.2027C>T (p.Ala676Val) rs376306906 0.00003
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) rs121918053 0.00003
NM_002693.3(POLG):c.2704C>G (p.Leu902Val) rs745528696 0.00003
NM_002693.3(POLG):c.2977C>T (p.Arg993Cys) rs551811489 0.00003
NM_002693.3(POLG):c.3215C>G (p.Thr1072Ser) rs530757118 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_002693.3(POLG):c.629C>T (p.Thr210Ile) rs1450989575 0.00003
NM_002693.3(POLG):c.739C>G (p.Leu247Val) rs754696832 0.00003
NM_007215.3(POLG2):c.-87G>A rs886053253 0.00003
NM_007215.4(POLG2):c.-85C>T rs886053252 0.00003
NM_007215.4(POLG2):c.775C>T (p.Arg259Ter) rs782006396 0.00003
NM_014462.3(LSM1):c.231+4A>C rs775468919 0.00003
NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser) rs515726196 0.00003
NM_015713.5(RRM2B):c.755G>A (p.Arg252Lys) rs754931572 0.00003
NM_015713.5(RRM2B):c.817G>A (p.Gly273Ser) rs387906891 0.00003
NM_015713.5(RRM2B):c.913G>T (p.Ala305Ser) rs201440849 0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_021830.5(TWNK):c.492C>T (p.Leu164=) rs775463083 0.00003
NM_080916.3(DGUOK):c.444-11C>G rs536746349 0.00003
NM_194277.3(FRMD7):c.*300T>C rs1029630139 0.00003
NM_194277.3(FRMD7):c.1200G>A (p.Ala400=) rs61751728 0.00003
NM_194277.3(FRMD7):c.157A>G (p.Asn53Asp) rs946251964 0.00003
NM_194277.3(FRMD7):c.1588C>T (p.Pro530Ser) rs200651852 0.00003
NM_194277.3(FRMD7):c.992A>G (p.Gln331Arg) rs773298405 0.00003
NM_198721.4(COL25A1):c.1144G>A (p.Gly382Arg) rs780209390 0.00003
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877 0.00002
NM_001151.4(SLC25A4):c.*1146T>C rs537652975 0.00002
NM_001151.4(SLC25A4):c.*655G>C rs951763559 0.00002
NM_001151.4(SLC25A4):c.331C>A (p.Arg111Ser) rs375543860 0.00002
NM_001151.4(SLC25A4):c.755C>T (p.Thr252Met) rs753197100 0.00002
NM_001173464.2(KIF21A):c.1160A>G (p.Asn387Ser) rs745692702 0.00002
NM_001173464.2(KIF21A):c.2503C>T (p.Arg835Trp) rs1458182449 0.00002
NM_001173464.2(KIF21A):c.2782C>T (p.Arg928Cys) rs749644826 0.00002
NM_001173464.2(KIF21A):c.4471C>T (p.His1491Tyr) rs748150530 0.00002
NM_002693.3(POLG):c.1613A>C (p.Glu538Ala) rs767216577 0.00002
NM_002693.3(POLG):c.1615_1623del (p.Phe539_Gln541del) rs754586219 0.00002
NM_002693.3(POLG):c.1808T>C (p.Met603Thr) rs367610201 0.00002
NM_002693.3(POLG):c.2468G>A (p.Arg823His) rs751172552 0.00002
NM_002693.3(POLG):c.3076C>T (p.Arg1026Cys) rs760043525 0.00002
NM_002693.3(POLG):c.3077G>A (p.Arg1026His) rs777038915 0.00002
NM_002693.3(POLG):c.3532G>A (p.Ala1178Thr) rs770149949 0.00002
NM_002693.3(POLG):c.3560G>A (p.Arg1187Gln) rs199678775 0.00002
NM_004614.5(TK2):c.441del (p.Tyr148fs) rs768548319 0.00002
NM_004618.5(TOP3A):c.1723A>G (p.Met575Val) rs372121045 0.00002
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly) rs201936720 0.00002
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn) rs563130304 0.00002
NM_015713.5(RRM2B):c.*2613del rs886062563 0.00002
NM_015713.5(RRM2B):c.*2885A>G rs29000291 0.00002
NM_015713.5(RRM2B):c.*788T>C rs559700946 0.00002
NM_015713.5(RRM2B):c.48G>A (p.Glu16=) rs515726180 0.00002
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) rs765379963 0.00002
NM_021830.5(TWNK):c.*552G>C rs111434414 0.00002
NM_021830.5(TWNK):c.*769G>A rs919556945 0.00002
NM_021830.5(TWNK):c.922T>C (p.Leu308=) rs754389465 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_194277.3(FRMD7):c.875T>C (p.Leu292Pro) rs192346335 0.00002
NM_000089.4(COL1A2):c.280-7T>C rs750868020 0.00001
NM_000273.3(GPR143):c.947G>A (p.Cys316Tyr) rs1348263627 0.00001
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg) rs140653372 0.00001
NM_001080449.3(DNA2):c.411G>C (p.Met137Ile) rs760968251 0.00001
NM_001080449.3(DNA2):c.593G>A (p.Arg198His) rs1272393477 0.00001
NM_001080449.3(DNA2):c.679A>G (p.Lys227Glu) rs760412883 0.00001
NM_001151.4(SLC25A4):c.*151T>C rs373871091 0.00001
NM_001151.4(SLC25A4):c.*2037del rs886059273 0.00001
NM_001151.4(SLC25A4):c.*2350G>C rs886059274 0.00001
NM_001151.4(SLC25A4):c.*2782G>A rs886059276 0.00001
NM_001151.4(SLC25A4):c.*3264G>A rs1246606859 0.00001
NM_001151.4(SLC25A4):c.*3335C>T rs1734517872 0.00001
NM_001151.4(SLC25A4):c.*3394A>G rs1449333012 0.00001
NM_001151.4(SLC25A4):c.*497T>G rs562129249 0.00001
NM_001151.4(SLC25A4):c.243C>T (p.Tyr81=) rs779064025 0.00001
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683 0.00001
NM_001151.4(SLC25A4):c.793G>A (p.Glu265Lys) rs772055424 0.00001
NM_001173464.2(KIF21A):c.*326T>A rs886049337 0.00001
NM_001173464.2(KIF21A):c.*531T>C rs1479577907 0.00001
NM_001173464.2(KIF21A):c.-31C>T rs554379231 0.00001
NM_001173464.2(KIF21A):c.1104T>G (p.Ala368=) rs187327535 0.00001
NM_001173464.2(KIF21A):c.268-14G>T rs762377796 0.00001
NM_001173464.2(KIF21A):c.2744T>C (p.Ile915Thr) rs886049344 0.00001
NM_001173464.2(KIF21A):c.3842G>A (p.Arg1281His) rs747176706 0.00001
NM_001173464.2(KIF21A):c.3960-11C>T rs201115347 0.00001
NM_001173464.2(KIF21A):c.4268G>A (p.Arg1423Gln) rs749290916 0.00001
NM_001173464.2(KIF21A):c.4891G>A (p.Ala1631Thr) rs886049339 0.00001
NM_001173464.2(KIF21A):c.578G>A (p.Arg193His) rs770064077 0.00001
NM_001173464.2(KIF21A):c.681T>C (p.His227=) rs753495640 0.00001
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) rs761934676 0.00001
NM_002693.3(POLG):c.1023+17G>A rs778750911 0.00001
NM_002693.3(POLG):c.114G>T (p.Gly38=) rs794727268 0.00001
NM_002693.3(POLG):c.1328G>A (p.Arg443His) rs796052903 0.00001
NM_002693.3(POLG):c.1669G>C (p.Glu557Gln) rs1481695998 0.00001
NM_002693.3(POLG):c.1882C>T (p.Arg628Trp) rs754245040 0.00001
NM_002693.3(POLG):c.1907C>G (p.Thr636Arg) rs917815816 0.00001
NM_002693.3(POLG):c.1936G>T (p.Val646Phe) rs757131755 0.00001
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg) rs796052906 0.00001
NM_002693.3(POLG):c.200G>C (p.Gly67Ala) rs1399456619 0.00001
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter) rs1254855971 0.00001
NM_002693.3(POLG):c.2257C>T (p.Pro753Ser) rs1446536384 0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) rs769827124 0.00001
NM_002693.3(POLG):c.2510A>G (p.Tyr837Cys) rs778190998 0.00001
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln) rs796052888 0.00001
NM_002693.3(POLG):c.3037G>T (p.Asp1013Tyr) rs1307399071 0.00001
NM_002693.3(POLG):c.30C>T (p.Ala10=) rs1060504037 0.00001
NM_002693.3(POLG):c.3104+2T>A rs747632869 0.00001
NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu) rs1057523186 0.00001
NM_002693.3(POLG):c.3211C>T (p.Arg1071Cys) rs762593265 0.00001
NM_002693.3(POLG):c.3227G>A (p.Gly1076Asp) rs1381291951 0.00001
NM_002693.3(POLG):c.3273+17G>A rs368578878 0.00001
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala) rs1354582663 0.00001
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe) rs765949668 0.00001
NM_002693.3(POLG):c.3442C>T (p.Arg1148Cys) rs149099318 0.00001
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser) rs753864625 0.00001
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu) rs776031396 0.00001
NM_002693.3(POLG):c.402C>G (p.Asn134Lys) rs759939229 0.00001
NM_002693.3(POLG):c.431A>G (p.Gln144Arg) rs1056580076 0.00001
NM_002693.3(POLG):c.730C>G (p.Leu244Val) rs367959489 0.00001
NM_002693.3(POLG):c.856-3C>T rs576339221 0.00001
NM_002693.3(POLG):c.862C>T (p.Arg288Cys) rs564582352 0.00001
NM_002693.3(POLG):c.869G>A (p.Arg290His) rs146603953 0.00001
NM_002693.3(POLG):c.86C>G (p.Ser29Cys) rs796052895 0.00001
NM_002693.3(POLG):c.88G>A (p.Val30Ile) rs1321405180 0.00001
NM_002693.3(POLG):c.915C>G (p.Ser305Arg) rs769410130 0.00001
NM_002693.3(POLG):c.995C>T (p.Ser332Phe) rs1567192290 0.00001
NM_002936.6(RNASEH1):c.424G>A (p.Val142Ile) rs766294940 0.00001
NM_002936.6(RNASEH1):c.469C>T (p.Arg157Ter) rs373442996 0.00001
NM_004614.5(TK2):c.133C>T (p.Gln45Ter) rs281865486 0.00001
NM_004614.5(TK2):c.173A>G (p.Asn58Ser) rs138439950 0.00001
NM_004614.5(TK2):c.562A>G (p.Thr188Ala) rs281865495 0.00001
NM_004618.5(TOP3A):c.1982G>A (p.Cys661Tyr) rs1214589149 0.00001
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) rs185476065 0.00001
NM_007215.4(POLG2):c.1444G>T (p.Ala482Ser) rs376087529 0.00001
NM_007215.4(POLG2):c.367G>A (p.Glu123Lys) rs377428467 0.00001
NM_007215.4(POLG2):c.544C>T (p.Arg182Trp) rs886037843 0.00001
NM_007215.4(POLG2):c.562G>C (p.Gly188Arg) rs1339478122 0.00001
NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys) rs1114167292 0.00001
NM_015713.4(RRM2B):c.-101G>A rs374844049 0.00001
NM_015713.5(RRM2B):c.*1522A>G rs889321989 0.00001
NM_015713.5(RRM2B):c.*1664T>A rs1810545907 0.00001
NM_015713.5(RRM2B):c.*2960G>A rs886062561 0.00001
NM_015713.5(RRM2B):c.*3125T>C rs886062560 0.00001
NM_015713.5(RRM2B):c.*3289A>G rs569359604 0.00001
NM_015713.5(RRM2B):c.-1G>C rs1437655477 0.00001
NM_015713.5(RRM2B):c.119G>A (p.Arg40His) rs765953819 0.00001
NM_015713.5(RRM2B):c.162A>G (p.Lys54=) rs746927643 0.00001
NM_015713.5(RRM2B):c.253_255del (p.Glu85del) rs515726184 0.00001
NM_015713.5(RRM2B):c.322-7T>C rs570137520 0.00001
NM_015713.5(RRM2B):c.470A>G (p.Asn157Ser) rs751231428 0.00001
NM_015713.5(RRM2B):c.503A>G (p.Lys168Arg) rs886062571 0.00001
NM_015713.5(RRM2B):c.97C>T (p.Pro33Ser) rs387906892 0.00001
NM_015965.7(NDUFA13):c.107T>C (p.Leu36Pro) rs2061098856 0.00001
NM_017641.3(KIF21A):c.-245C>T rs886049350 0.00001
NM_017641.3(KIF21A):c.-392G>C rs886049354 0.00001
NM_017777.4(MKS1):c.1166-2A>C rs1488635637 0.00001
NM_021830.5(TWNK):c.*367A>G rs62626296 0.00001
NM_021830.5(TWNK):c.*619G>A rs886046637 0.00001
NM_021830.5(TWNK):c.*763T>C rs886046639 0.00001
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp) rs267606682 0.00001
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_021830.5(TWNK):c.1244-14C>T rs758757135 0.00001
NM_021830.5(TWNK):c.1488T>C (p.Thr496=) rs549767223 0.00001
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_021830.5(TWNK):c.908G>A (p.Arg303Gln) rs137852956 0.00001
NM_021830.5(TWNK):c.913G>A (p.Val305Ile) rs753457416 0.00001
NM_023012.6(RSRC2):c.425G>A (p.Arg142Gln) rs752134549 0.00001
NM_052867.4(NALCN):c.3390G>A (p.Pro1130=) rs869312873 0.00001
NM_080916.3(DGUOK):c.679G>A (p.Glu227Lys) rs104893632 0.00001
NM_194277.3(FRMD7):c.1003C>T (p.Arg335Ter) rs137852208 0.00001
NM_194277.3(FRMD7):c.1646T>A (p.Val549Glu) rs1308080722 0.00001
NM_194277.3(FRMD7):c.285-3C>T rs750320516 0.00001
NM_194277.3(FRMD7):c.308A>C (p.Lys103Thr) rs759784671 0.00001
NM_194277.3(FRMD7):c.425T>G (p.Leu142Arg) rs137852211 0.00001
NM_194277.3(FRMD7):c.58-6G>A rs750979330 0.00001
NM_194277.3(FRMD7):c.691T>G (p.Leu231Val) rs387906720 0.00001
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) rs758361736 0.00001
NM_198721.4(COL25A1):c.382C>T (p.Arg128Ter) rs1274380766 0.00001
NM_198721.4(COL25A1):c.672+1G>A rs759316372 0.00001
46;X;inv(X)(p11.4q24)dn
46;X;t(X;3)(p21.3;p25.1)dn
46;XX;ins(2;9)(q24.3;p22.1p24.3)dn
46;XX;inv(14)(q24.1q32.1)dn
46;XX;inv(5)(q14q33)dn
46;XX;t(2;10)(q22;22.3)dn
46;XX;t(3;12)(q13.2;q14)dn
46;XX;t(6;21)(q14;q21)dn
46;XY;t(1;14)(q42;q13)
46;XY;t(1;3)(p22;q21)dn
46;XY;t(1;5)(p35.3;q31.3)dn
46;XY;t(2;14)(p23;q13)dn
46;XY;t(3;17)(p14.3;q24.3)dn
46;XY;t(4;14)(p14;q11.2)dn
46;XY;t(4;14)(p15.32;q32.1)dn
46;XY;t(6;11)(p12.3;p14.2)dn
46;XY;t(6;11)(q23;q21)or(q25;q21)dn
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)
GRCh37/hg19 17p11.2(chr17:16936603-18184130)
GRCh37/hg19 17p13.3(chr17:2339561-2826073)
GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396)
GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)
GRCh37/hg19 7q36.3(chr7:156333296-156556779)
GRCh37/hg19 7q36.3(chr7:156656444-156866708)
GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)
NC_000005.10:g.139189727_139201554del
NC_012920.1(MT-CYB):m.15485C>T
NC_012920.1(MT-TK):m.8319A>G rs1603221401
NC_012920.1(MT-TL1):m.3249G>A rs199474667
NC_012920.1(MT-TS1):m.7486G>A rs1556423295
NC_012920.1(MT-TS2):m.8483_13459del
NC_012920.1(MT-TY):m.5877C>T rs118203893
NC_012920.1(MT-TY):m.5888del rs118203892
NM_000153.4(GALC):c.196G>A (p.Ala66Thr) rs1057518843
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124
NM_000266.4(NDP):c.314C>T (p.Ala105Val) rs1057518836
NM_000273.3(GPR143):c.12_36del (p.Leu6fs) rs1057518787
NM_000273.3(GPR143):c.131G>A (p.Gly44Asp)
NM_000273.3(GPR143):c.162_198del (p.Ala55fs)
NM_000273.3(GPR143):c.231_249dup (p.Gly84fs)
NM_000273.3(GPR143):c.266C>T (p.Ser89Phe) rs137852298
NM_000273.3(GPR143):c.349del (p.Val117fs)
NM_000273.3(GPR143):c.731del (p.Ile244fs) rs1569118851
NM_000273.3(GPR143):c.767+10C>G rs3788938
NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter) rs1571164333
NM_000539.3(RHO):c.891C>G (p.Ser297Arg) rs142285818
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) rs794727792
NM_001033.5(RRM1):c.1141C>T (p.Arg381Cys)
NM_001033.5(RRM1):c.1142G>A (p.Arg381His)
NM_001080449.3(DNA2):c.1057+19del rs34922453
NM_001080449.3(DNA2):c.1213T>C (p.Tyr405His) rs2133402393
NM_001080449.3(DNA2):c.1450del (p.Arg484fs) rs2133386949
NM_001080449.3(DNA2):c.1462G>A (p.Val488Ile)
NM_001080449.3(DNA2):c.1644_1647del (p.Asp548fs) rs768077989
NM_001080449.3(DNA2):c.1919C>T (p.Ser640Leu) rs1590054876
NM_001080449.3(DNA2):c.1982_1983del (p.Leu661fs)
NM_001080449.3(DNA2):c.2219C>G (p.Ala740Gly) rs2051684928
NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu) rs73274785
NM_001080449.3(DNA2):c.2546G>T (p.Gly849Val) rs2133361857
NM_001080449.3(DNA2):c.2697+13del rs370068890
NM_001080449.3(DNA2):c.3014C>T (p.Thr1005Ile) rs376624048
NM_001080449.3(DNA2):c.64_74+1del rs556723627
NM_001080449.3(DNA2):c.662C>G (p.Ala221Gly) rs751031650
NM_001080449.3(DNA2):c.707T>C (p.Met236Thr) rs759464271
NM_001080449.3(DNA2):c.720-4del rs34191745
NM_001080449.3(DNA2):c.876C>A (p.Tyr292Ter)
NM_001127222.2(CACNA1A):c.5419G>T (p.Ala1807Ser) rs1555736565
NM_001134225.2(INPP4A):c.352_353del (p.Ser118fs) rs1574965220
NM_001151.4(SLC25A4):c.*1020_*1023del rs374044101
NM_001151.4(SLC25A4):c.*1378A>G rs868358526
NM_001151.4(SLC25A4):c.*2150G>T rs894890311
NM_001151.4(SLC25A4):c.*2363G>A rs753110221
NM_001151.4(SLC25A4):c.*2436CT[1] rs375487895
NM_001151.4(SLC25A4):c.*2475C>T rs192241746
NM_001151.4(SLC25A4):c.*2499G>T rs1579212062
NM_001151.4(SLC25A4):c.*2510T>C rs1579212069
NM_001151.4(SLC25A4):c.*259TAA[1] rs542820181
NM_001151.4(SLC25A4):c.*2713G>A rs886059275
NM_001151.4(SLC25A4):c.*2720G>A rs559222593
NM_001151.4(SLC25A4):c.*277C>T rs190251889
NM_001151.4(SLC25A4):c.*2802C>T rs1031240359
NM_001151.4(SLC25A4):c.*323TTA[1] rs139462979
NM_001151.4(SLC25A4):c.*424A>G rs886059269
NM_001151.4(SLC25A4):c.*481G>T rs78882199
NM_001151.4(SLC25A4):c.*482G>C rs1734462158
NM_001151.4(SLC25A4):c.*496ATCT[3] rs551018560
NM_001151.4(SLC25A4):c.*571T>G rs370688019
NM_001151.4(SLC25A4):c.*824C>T rs779103031
NM_001151.4(SLC25A4):c.-84C>A rs183128370
NM_001151.4(SLC25A4):c.293T>C (p.Leu98Pro) rs104893876
NM_001151.4(SLC25A4):c.311A>G (p.Asp104Gly) rs28999114
NM_001151.4(SLC25A4):c.340G>C (p.Ala114Pro) rs104893873
NM_001151.4(SLC25A4):c.448G>A (p.Ala150Thr)
NM_001151.4(SLC25A4):c.47G>A (p.Gly16Asp)
NM_001151.4(SLC25A4):c.523del (p.Gln175fs) rs863224209
NM_001151.4(SLC25A4):c.732G>C (p.Arg244=) rs886059266
NM_001151.4(SLC25A4):c.742G>A (p.Asp248Asn) rs755597294
NM_001151.4(SLC25A4):c.787A>G (p.Lys263Glu)
NM_001151.4(SLC25A4):c.865G>A (p.Val289Met) rs104893874
NM_001173464.2(KIF21A):c.*1010T>C rs886049332
NM_001173464.2(KIF21A):c.*1022A>T rs886049331
NM_001173464.2(KIF21A):c.*1157A>T rs886049330
NM_001173464.2(KIF21A):c.*211C>G rs886049338
NM_001173464.2(KIF21A):c.*366C>T rs1942069691
NM_001173464.2(KIF21A):c.*690T>C rs886049336
NM_001173464.2(KIF21A):c.*690del rs34373131
NM_001173464.2(KIF21A):c.*690dup rs34373131
NM_001173464.2(KIF21A):c.*845dup rs886049334
NM_001173464.2(KIF21A):c.*935A>G rs886049333
NM_001173464.2(KIF21A):c.-41G>A rs886049346
NM_001173464.2(KIF21A):c.1067T>C (p.Met356Thr) rs121912588
NM_001173464.2(KIF21A):c.10G>A (p.Ala4Thr)
NM_001173464.2(KIF21A):c.1279A>G (p.Met427Val) rs375541289
NM_001173464.2(KIF21A):c.1321G>A (p.Ala441Thr) rs886049345
NM_001173464.2(KIF21A):c.1458C>A (p.Ile486=) rs200512673
NM_001173464.2(KIF21A):c.1674-1G>A
NM_001173464.2(KIF21A):c.1899A>G (p.Ser633=) rs1947443550
NM_001173464.2(KIF21A):c.197T>C (p.Ile66Thr) rs1227646139
NM_001173464.2(KIF21A):c.2371del (p.Arg791fs)
NM_001173464.2(KIF21A):c.2418+2T>C rs1565839016
NM_001173464.2(KIF21A):c.2431C>T (p.Leu811Phe) rs779688115
NM_001173464.2(KIF21A):c.2492C>G (p.Thr831Arg) rs764601859
NM_001173464.2(KIF21A):c.2492C>T (p.Thr831Met) rs764601859
NM_001173464.2(KIF21A):c.2515C>T (p.Pro839Ser)
NM_001173464.2(KIF21A):c.2516C>T (p.Pro839Leu) rs1592198426
NM_001173464.2(KIF21A):c.2535T>A (p.Ala845=) rs148166854
NM_001173464.2(KIF21A):c.2798T>A (p.Ile933Asn) rs886049343
NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val) rs121912589
NM_001173464.2(KIF21A):c.2840T>G (p.Met947Arg) rs121912590
NM_001173464.2(KIF21A):c.2841G>A (p.Met947Ile) rs267607200
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) rs121912585
NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln) rs121912586
NM_001173464.2(KIF21A):c.3029T>C (p.Ile1010Thr) rs121912587
NM_001173464.2(KIF21A):c.3082G>A (p.Val1028Ile) rs1946526630
NM_001173464.2(KIF21A):c.3301C>A (p.Leu1101Ile)
NM_001173464.2(KIF21A):c.3341-11dup rs71075059
NM_001173464.2(KIF21A):c.3554C>T (p.Pro1185Leu) rs1316892081
NM_001173464.2(KIF21A):c.3872C>A (p.Thr1291Asn) rs886049342
NM_001173464.2(KIF21A):c.3877_3878insTTAAT (p.Ser1293fs) rs1565724893
NM_001173464.2(KIF21A):c.3887dup (p.Asn1296fs) rs1565724702
NM_001173464.2(KIF21A):c.3915T>C (p.Asp1305=) rs1944493997
NM_001173464.2(KIF21A):c.4264A>G (p.Ile1422Val) rs886049341
NM_001173464.2(KIF21A):c.44+15C>G rs1478935702
NM_001173464.2(KIF21A):c.4528A>C (p.Ile1510Leu) rs886049340
NM_001173464.2(KIF21A):c.4602_4606del (p.Thr1535fs)
NM_001173464.2(KIF21A):c.4814G>A (p.Gly1605Glu) rs1942967439
NM_001173464.2(KIF21A):c.4961G>T (p.Arg1654Leu) rs373406994
NM_001173464.2(KIF21A):c.706C>T (p.Gln236Ter) rs267603451
NM_001173464.2(KIF21A):c.847C>T (p.Arg283Cys)
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001256012.3(MYH10):c.938G>T (p.Gly313Val)
NM_001256012.3(MYH10):c.965A>G (p.Asn322Ser)
NM_001308120.2(TOGARAM1):c.3361A>G (p.Thr1121Ala)
NM_001308120.2(TOGARAM1):c.3932G>A (p.Arg1311His)
NM_001321932.1(FGF14):c.4+1G>A
NM_001323342.2(AHCTF1):c.3673C>T (p.Arg1225Ter) rs1558223606
NM_001349338.3(FOXP1):c.1396C>G (p.Pro466Ala) rs1057518926
NM_001365902.3(NFIX):c.440G>A (p.Gly147Glu) rs1568269273
NM_001367721.1(CASK):c.2236+1delinsAT rs1555975523
NM_001367721.1(CASK):c.2521-2A>G rs398122845
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs) rs1554110735
NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu) rs1556619324
NM_001379110.1(SLC9A6):c.1662-19_1662-3del rs1569525894
NM_001379500.1(COL18A1):c.3448C>T (p.Arg1150Ter) rs1057518802
NM_001382347.1(MYO5A):c.4200C>G (p.Ser1400Arg) rs1114167290
NM_001903.5(CTNNA1):c.2438A>C (p.Asp813Ala)
NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala) rs1765343397
NM_002074.5(GNB1):c.228T>G (p.Asp76Glu) rs869312822
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002074.5(GNB1):c.284T>C (p.Leu95Pro) rs869312824
NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr) rs1131040
NM_002109.6(HARS1):c.730delG rs1581505917
NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro) rs1057518963
NM_002693.2(POLG):c.[2554C>T];[32G>A]
NM_002693.3(POLG):c.1198G>A (p.Val400Met) rs529639381
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[5] (p.Gln50_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del) rs41550117
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.3(POLG):c.1403A>T (p.Asn468Ile)
NM_002693.3(POLG):c.1420C>A (p.Leu474Ile) rs1555453653
NM_002693.3(POLG):c.1433+5C>T rs924516946
NM_002693.3(POLG):c.1457G>A (p.Trp486Ter) rs2055531147
NM_002693.3(POLG):c.1491G>C (p.Gln497His) rs121918052
NM_002693.3(POLG):c.1532G>A (p.Ser511Asn) rs121918055
NM_002693.3(POLG):c.1570C>G (p.Pro524Ala) rs577476988
NM_002693.3(POLG):c.1646del (p.Leu549fs) rs1555453538
NM_002693.3(POLG):c.1787T>G (p.Met596Arg)
NM_002693.3(POLG):c.2059A>G (p.Ile687Val) rs796052881
NM_002693.3(POLG):c.2074GAA[1] (p.Glu693del) rs760784347
NM_002693.3(POLG):c.2094A>C (p.Glu698Asp) rs2152063213
NM_002693.3(POLG):c.2255T>C (p.Leu752Pro) rs2055426653
NM_002693.3(POLG):c.2287G>A (p.Gly763Arg)
NM_002693.3(POLG):c.2363_2374del (p.Gly788_Leu792delinsVal)
NM_002693.3(POLG):c.2386A>C (p.Lys796Gln)
NM_002693.3(POLG):c.2466C>G (p.Pro822=) rs1235161601
NM_002693.3(POLG):c.2485C>T (p.Pro829Ser) rs906230544
NM_002693.3(POLG):c.2530G>A (p.Val844Met) rs1555452881
NM_002693.3(POLG):c.260T>C (p.Ile87Thr) rs776347449
NM_002693.3(POLG):c.2669A>C (p.Asp890Ala) rs1567186779
NM_002693.3(POLG):c.2678C>T (p.Ser893Phe) rs1596352300
NM_002693.3(POLG):c.2863T>C (p.Tyr955His)
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser) rs121918051
NM_002693.3(POLG):c.2981+2T>G rs775260762
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp) rs121918049
NM_002693.3(POLG):c.3255dup (p.Ser1086fs) rs1596350386
NM_002693.3(POLG):c.3274-8C>T rs1184674847
NM_002693.3(POLG):c.3393C>G (p.Ile1131Met)
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_002693.3(POLG):c.3488T>A (p.Met1163Lys)
NM_002693.3(POLG):c.3643+2T>C rs1335880349
NM_002693.3(POLG):c.67_88del (p.Gly23fs) rs2055630470
NM_002693.3(POLG):c.729C>A (p.Asp243Glu) rs757917194
NM_002693.3(POLG):c.824G>A (p.Arg275Gln) rs1555453950
NM_002693.3(POLG):c.8G>C (p.Arg3Pro) rs121918045
NM_002693.3(POLG):c.925C>T (p.Arg309Cys) rs886041592
NM_002693.3(POLG):c.975dup (p.Thr326fs)
NM_002693.3:c.2734+39_2734+40insAGGT rs2152061162
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002936.6(RNASEH1):c.526C>T (p.Leu176Phe)
NM_002936.6(RNASEH1):c.532G>A (p.Gly178Arg)
NM_002936.6(RNASEH1):c.554C>T (p.Ala185Val) rs1057517675
NM_002941.4(ROBO1):c.1073G>A (p.Arg358His)
NM_002941.4(ROBO1):c.3396TCC[1] (p.Pro1134del) rs752249344
NM_003072.5(SMARCA4):c.1358C>T (p.Thr453Ile) rs1057518862
NM_003482.4(KMT2D):c.10624C>G (p.Leu3542Val) rs1943099362
NM_003571.4(BFSP2):c.449G>A (p.Trp150Ter)
NM_003906.5(MCM3AP):c.5116C>T (p.Leu1706Phe)
NM_004104.5(FASN):c.1249_1250dup (p.Ala418fs)
NM_004115.4(FGF14):c.193+3C>T
NM_004115.4(FGF14):c.194-1G>C
NM_004115.4(FGF14):c.20G>T (p.Ser7Ile)
NM_004115.4(FGF14):c.211dup (p.Ile71fs)
NM_004115.4(FGF14):c.256C>T (p.His86Tyr)
NM_004115.4(FGF14):c.434T>C (p.Phe145Ser) rs104894393
NM_004115.4(FGF14):c.439G>T (p.Glu147Ter) rs865878627
NM_004115.4(FGF14):c.487del (p.Arg163fs) rs587776685
NM_004115.4(FGF14):c.512G>A (p.Trp171Ter)
NM_004115.4(FGF14):c.529A>T (p.Lys177Ter) rs1555370787
NM_004521.3(KIF5B):c.762CAA[1] (p.Asn255del) rs1841455410
NM_004614.5(TK2):c.-30C>G rs3743715
NM_004614.5(TK2):c.126_128del (p.Asp42_Lys43delinsGlu)
NM_004614.5(TK2):c.547C>T (p.Arg183Trp) rs137886900
NM_004618.5(TOP3A):c.1468-11G>T rs3817992
NM_004618.5(TOP3A):c.241-13T>G rs1981719689
NM_004618.5(TOP3A):c.614A>G (p.Asp205Gly)
NM_004618.5(TOP3A):c.865C>T (p.Arg289Ter)
NM_004618.5(TOP3A):c.899_900del (p.Tyr300fs) rs1597981046
NM_005035.4(POLRMT):c.719C>T (p.Pro240Leu)
NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys) rs1172486173
NM_005169.4(PHOX2A):c.215C>T (p.Ala72Val) rs104894269
NM_005169.4(PHOX2A):c.217+1G>A rs1590729541
NM_005169.4(PHOX2A):c.406-1G>A rs1178102382
NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter) rs267606826
NM_005461.5(MAFB):c.821T>C (p.Ile274Thr)
NM_005548.3(KARS1):c.256C>T (p.Gln86Ter) rs2151809445
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg) rs1561523716
NM_006009.4(TUBA1A):c.1193T>G (p.Met398Arg) rs1942164218
NM_006009.4(TUBA1A):c.1216C>G (p.His406Asp) rs1942163977
NM_006009.4(TUBA1A):c.467G>A (p.Arg156His) rs1942174390
NM_006082.3(TUBA1B):c.554A>G (p.Tyr185Cys)
NM_006086.4(TUBB3):c.1138C>T (p.Arg380Cys) rs864321717
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys) rs267607165
NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn) rs267607164
NM_006086.4(TUBB3):c.1249G>C (p.Asp417His) rs267607164
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp) rs1555625363
NM_006086.4(TUBB3):c.166+4A>C
NM_006086.4(TUBB3):c.185G>A (p.Arg62Gln) rs864321714
NM_006086.4(TUBB3):c.211G>A (p.Gly71Arg) rs864321715
NM_006086.4(TUBB3):c.229C>T (p.Arg77Cys)
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) rs587784505
NM_006086.4(TUBB3):c.418G>C (p.Gly140Arg)
NM_006086.4(TUBB3):c.424G>A (p.Gly142Ser) rs1131691895
NM_006086.4(TUBB3):c.508G>A (p.Val170Met) rs1344725531
NM_006086.4(TUBB3):c.631T>C (p.Cys211Arg) rs1567765029
NM_006086.4(TUBB3):c.640A>G (p.Thr214Ala)
NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu) rs587784506
NM_006086.4(TUBB3):c.763G>A (p.Val255Ile) rs1057517908
NM_006086.4(TUBB3):c.784C>T (p.Arg262Cys) rs267607162
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006086.4(TUBB3):c.904G>A (p.Ala302Thr) rs267607163
NM_006087.4(TUBB4A):c.800T>C (p.Met267Thr)
NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs) rs1570592604
NM_006617.2(NES):c.23A>T (p.Glu8Val)
NM_006940.6(SOX5):c.482-2A>C rs1057518845
NM_007215.4(POLG2):c.-61G>A rs552693721
NM_007215.4(POLG2):c.-66C>T rs886053251
NM_007215.4(POLG2):c.1030C>T (p.Arg344Ter) rs782004592
NM_007215.4(POLG2):c.1060T>C (p.Phe354Leu)
NM_007215.4(POLG2):c.1110+2T>A
NM_007215.4(POLG2):c.1189C>T (p.Gln397Ter)
NM_007215.4(POLG2):c.1191+6dup rs60611997
NM_007215.4(POLG2):c.1315T>C (p.Phe439Leu) rs2037794198
NM_007215.4(POLG2):c.1343_1347del (p.Thr447_Leu448insTer) rs1568079693
NM_007215.4(POLG2):c.1352G>A (p.Gly451Glu) rs104894632
NM_007215.4(POLG2):c.1423_1424del (p.Leu475fs) rs1568079613
NM_007215.4(POLG2):c.358G>A (p.Val120Met) rs782034872
NM_007215.4(POLG2):c.381G>A (p.Pro127=) rs2038155788
NM_007215.4(POLG2):c.614C>G (p.Pro205Arg) rs397514659
NM_007215.4(POLG2):c.673C>T (p.Arg225Ter) rs371515325
NM_007215.4(POLG2):c.729_730del (p.Pro244fs)
NM_007215.4(POLG2):c.743C>T (p.Ser248Leu) rs1316363979
NM_007215.4(POLG2):c.749A>G (p.Gln250Arg) rs782071363
NM_007215.4(POLG2):c.770G>A (p.Arg257His)
NM_007215.4(POLG2):c.970-4G>A rs2037942296
NM_007374.3(SIX6):c.547G>C (p.Asp183His) rs1594631582
NM_012064.4(MIP):c.513del (p.His172fs) rs1868688386
NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter) rs1114167291
NM_014608.6(CYFIP1):c.1348G>T (p.Ala450Ser)
NM_014608.6(CYFIP1):c.1798T>C (p.Phe600Leu)
NM_015046.7(SETX):c.5222dup (p.Asp1742fs) rs730882209
NM_015087.5(SPART):c.1450dup (p.Thr484fs) rs730882198
NM_015100.4(POGZ):c.2771del (p.Pro924fs) rs1553212868
NM_015335.5(MED13L):c.1971del (p.Asp657fs) rs1555247805
NM_015713.4(RRM2B):c.-157G>A rs28927991
NM_015713.4(RRM2B):c.-193G>C rs1325086159
NM_015713.5(RRM2B):c.*1337G>C rs962002084
NM_015713.5(RRM2B):c.*1451A>C rs11575864
NM_015713.5(RRM2B):c.*1552T>C rs1051017101
NM_015713.5(RRM2B):c.*1717T>A rs886062566
NM_015713.5(RRM2B):c.*1894dup rs150629554
NM_015713.5(RRM2B):c.*2328A>T rs886062565
NM_015713.5(RRM2B):c.*247G>A rs886062568
NM_015713.5(RRM2B):c.*2492AAGTT[1] rs886062564
NM_015713.5(RRM2B):c.*2513T>C rs866323859
NM_015713.5(RRM2B):c.*2675A>G rs3735720
NM_015713.5(RRM2B):c.*2728G>A rs1810526776
NM_015713.5(RRM2B):c.*2809G>A rs886062562
NM_015713.5(RRM2B):c.*2991C>T rs972415772
NM_015713.5(RRM2B):c.*2995A>T rs1810522232
NM_015713.5(RRM2B):c.*3003_*3004del rs552260099
NM_015713.5(RRM2B):c.*3250G>C rs1279038036
NM_015713.5(RRM2B):c.*3473A>G rs1810512728
NM_015713.5(RRM2B):c.*3489A>G rs540839717
NM_015713.5(RRM2B):c.*3577G>T rs779768316
NM_015713.5(RRM2B):c.*436A>G rs1810567744
NM_015713.5(RRM2B):c.*485A>C rs531379490
NM_015713.5(RRM2B):c.*73A>T rs886062570
NM_015713.5(RRM2B):c.*74del rs886062569
NM_015713.5(RRM2B):c.*855C>G rs886062567
NM_015713.5(RRM2B):c.*895G>A rs1810559850
NM_015713.5(RRM2B):c.143A>G (p.Gln48Arg) rs747846279
NM_015713.5(RRM2B):c.158G>A (p.Trp53Ter)
NM_015713.5(RRM2B):c.258G>T (p.Lys86Asn) rs536874925
NM_015713.5(RRM2B):c.320T>C (p.Leu107Ser)
NM_015713.5(RRM2B):c.455+1G>A rs2132555188
NM_015713.5(RRM2B):c.48+188del rs758091261
NM_015713.5(RRM2B):c.534T>C (p.Asp178=) rs1810881397
NM_015713.5(RRM2B):c.602C>T (p.Ser201Phe)
NM_015713.5(RRM2B):c.606T>A (p.Phe202Leu) rs515726194
NM_015713.5(RRM2B):c.950del (p.Ser316_Leu317insTer) rs515726199
NM_015713.5(RRM2B):c.965dup (p.Asn322fs) rs515726201
NM_015713.5(RRM2B):c.979C>T (p.Arg327Ter) rs121918310
NM_015965.7(NDUFA13):c.194del (p.Phe65fs) rs2061105702
NM_017641.3(KIF21A):c.-195A>G rs532130145
NM_017641.3(KIF21A):c.-203C>G rs886049349
NM_017641.3(KIF21A):c.-335C>G rs886049351
NM_017641.3(KIF21A):c.-411G>A rs145372857
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019113.4(FGF21):c.133C>T (p.Arg45Trp)
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs) rs1553281318
NM_021728.4(OTX2):c.191_193delinsGG (p.Leu64fs) rs1555350397
NM_021830.5(TWNK):c.*248G>A rs1851850715
NM_021830.5(TWNK):c.*346A>C rs1851852761
NM_021830.5(TWNK):c.*472GA[2] rs370783985
NM_021830.5(TWNK):c.*555G>A rs886046635
NM_021830.5(TWNK):c.*747C>G rs886046638
NM_021830.5(TWNK):c.*803A>G rs886046640
NM_021830.5(TWNK):c.-105T>C rs886046629
NM_021830.5(TWNK):c.-304G>A rs200599543
NM_021830.5(TWNK):c.-306GT[1] rs146265037
NM_021830.5(TWNK):c.-423C>T rs886046627
NM_021830.5(TWNK):c.-584G>C rs1564806518
NM_021830.5(TWNK):c.-585T>G rs886046624
NM_021830.5(TWNK):c.-622C>T rs993449080
NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln) rs28937887
NM_021830.5(TWNK):c.1003C>A (p.Pro335Thr) rs1554887028
NM_021830.5(TWNK):c.1054_1092dup (p.His364_Lys365insLeuSerArgIleLeuArgThrAlaLeuProAlaTrpHis)
NM_021830.5(TWNK):c.1061G>C (p.Arg354Pro) rs111033576
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) rs758026634
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr) rs111033573
NM_021830.5(TWNK):c.1106C>A (p.Ser369Tyr) rs111033579
NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln) rs1554887097
NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro) rs111033577
NM_021830.5(TWNK):c.1374G>T (p.Gln458His) rs1554887213
NM_021830.5(TWNK):c.1399C>T (p.Gln467Ter)
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter) rs111033574
NM_021830.5(TWNK):c.1422G>C (p.Trp474Cys) rs111033574
NM_021830.5(TWNK):c.1423G>C (p.Ala475Pro) rs111033572
NM_021830.5(TWNK):c.1433T>G (p.Phe478Cys) rs2133939892
NM_021830.5(TWNK):c.1566G>A (p.Met522Ile) rs1219162535
NM_021830.5(TWNK):c.1826G>A (p.Arg609His)
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu) rs1274226715
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr) rs1426435572
NM_021830.5(TWNK):c.2045G>A (p.Arg682His) rs182559752
NM_021830.5(TWNK):c.274G>A (p.Gly92Ser) rs886046630
NM_021830.5(TWNK):c.276C>T (p.Gly92=) rs886046631
NM_021830.5(TWNK):c.299T>G (p.Phe100Cys)
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln) rs1564807938
NM_021830.5(TWNK):c.649C>T (p.Arg217Ter) rs1382829987
NM_021830.5(TWNK):c.718C>T (p.Arg240Ter)
NM_021830.5(TWNK):c.77G>T (p.Gly26Val) rs772221026
NM_021830.5(TWNK):c.827C>T (p.Thr276Met)
NM_021830.5(TWNK):c.868T>A (p.Leu290Ile) rs2133937386
NM_021830.5(TWNK):c.905G>A (p.Arg302Gln)
NM_021830.5(TWNK):c.907C>T (p.Arg303Trp) rs1159929268
NM_021830.5(TWNK):c.944G>T (p.Trp315Leu) rs111033575
NM_021830.5(TWNK):c.955A>G (p.Lys319Glu) rs80356543
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
NM_030632.3(ASXL3):c.1354G>A (p.Glu452Lys) rs2067593629
NM_033066.3(MPP4):c.946T>C (p.Trp316Arg) rs1057519443
NM_080916.3(DGUOK):c.130G>A (p.Glu44Lys) rs762550967
NM_080916.3(DGUOK):c.14G>A (p.Arg5His)
NM_080916.3(DGUOK):c.155C>G (p.Ser52Cys) rs1204316787
NM_080916.3(DGUOK):c.186C>A (p.Tyr62Ter) rs879255617
NM_080916.3(DGUOK):c.214_215del (p.Val72fs)
NM_080916.3(DGUOK):c.605_606del (p.Arg202fs) rs863223949
NM_080916.3(DGUOK):c.763G>T (p.Asp255Tyr) rs104893633
NM_080916.3(DGUOK):c.789AGA[1] (p.Glu264del) rs1396335431
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg) rs149648640
NM_138615.3(DHX30):c.1478G>A (p.Arg493His) rs1057519436
NM_138615.3(DHX30):c.1685A>G (p.His562Arg) rs1060499733
NM_144643.4(SCLT1):c.1043del (p.Ser348fs)
NM_144643.4(SCLT1):c.2060dup (p.Asn687fs)
NM_153704.6(TMEM67):c.2418_2423dup (p.805_806MN[3]) rs1554558365
NM_172225.2(DMBX1):c.352C>T (p.Arg118Trp) rs730882203
NM_175737.4(KLB):c.1469G>A (p.Arg490Gln)
NM_176795.5(HRAS):c.500dup (p.Pro169fs) rs35613389
NM_178014.4(TUBB):c.1198G>C (p.Gly400Arg)
NM_194277.3(FRMD7):c.*293G>C rs1057515769
NM_194277.3(FRMD7):c.*827T>A rs184089624
NM_194277.3(FRMD7):c.-100G>T rs1057515772
NM_194277.3(FRMD7):c.-102G>A rs1057515773
NM_194277.3(FRMD7):c.1050+1G>C rs1927753913
NM_194277.3(FRMD7):c.1050+5G>A rs1602791884
NM_194277.3(FRMD7):c.1275_1276del (p.Glu426fs) rs2124209414
NM_194277.3(FRMD7):c.205+2T>G rs1928435502
NM_194277.3(FRMD7):c.252G>A (p.Val84=) rs137852209
NM_194277.3(FRMD7):c.285-12A>G rs1486391487
NM_194277.3(FRMD7):c.384A>G (p.Ser128=) rs1927977937
NM_194277.3(FRMD7):c.38AGA[1] (p.Lys14del) rs1929191668
NM_194277.3(FRMD7):c.556A>G (p.Met186Val) rs786205896
NM_194277.3(FRMD7):c.601C>T (p.Gln201Ter) rs137852207
NM_194277.3(FRMD7):c.685C>G (p.Arg229Gly) rs137852212
NM_194277.3(FRMD7):c.70G>A (p.Gly24Arg) rs137852210
NM_194277.3(FRMD7):c.775G>A (p.Ala259Thr)
NM_194277.3(FRMD7):c.781C>T (p.Arg261Ter) rs1927850772
NM_194277.3(FRMD7):c.810T>G (p.Thr270=)
NM_194277.3(FRMD7):c.812G>A (p.Cys271Tyr) rs387906721
NM_194277.3(FRMD7):c.832T>C (p.Phe278Leu)
NM_194277.3(FRMD7):c.886G>T (p.Gly296Cys)
NM_194277.3(FRMD7):c.902A>G (p.Tyr301Cys)
NM_194277.3(FRMD7):c.904A>C (p.Ser302Arg) rs1057515771
NM_198721.4(COL25A1):c.1489G>T (p.Gly497Ter) rs886037741
NM_198721.4(COL25A1):c.1585G>A (p.Gly529Ser)
NM_198721.4(COL25A1):c.1598del (p.Pro533fs)
NM_198721.4(COL25A1):c.672+1del rs2125927453
NM_198721.4:c.368-5122_708+6063del
NM_201525.4(ADGRG1):c.1583dup (p.Ala529fs) rs1567815105
Single allele
c.1228G>A
t(12;19)(q24.21;q12)

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