ClinVar Miner

List of variants studied for hereditary optic atrophy

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1044
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HGVS dbSNP gnomAD frequency
NM_014263.4(YME1L1):c.1720-36G>C rs2480718 0.99189
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) rs2217342 0.93139
NM_130837.3(OPA1):c.1035+4T>C rs166850 0.88294
NM_014263.4(YME1L1):c.*45C>T rs9833 0.85438
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=) rs11553521 0.77624
NM_025136.4(OPA3):c.*6790T>C rs10422253 0.76137
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_025136.4(OPA3):c.*1950G>A rs4404183 0.69999
NM_152296.5(ATP1A3):c.*39C>G rs919390 0.69962
NM_025136.4(OPA3):c.*3387G>A rs3760844 0.69742
NM_025136.4(OPA3):c.*4318T>C rs4802261 0.69665
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_006796.3(AFG3L2):c.752+6C>T rs8097342 0.67671
NM_025136.4(OPA3):c.*152G>A rs3826861 0.66011
NM_130837.3(OPA1):c.*1343A>G rs1056366 0.65902
NM_130837.3(OPA1):c.*283A>G rs1061648 0.61309
NM_025136.4(OPA3):c.*6012A>G rs11083772 0.57481
NM_130837.3(OPA1):c.*1113C>T rs12630 0.54101
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn) rs7624750 0.50224
NM_130837.3(OPA1):c.2274T>C (p.Ala758=) rs9851685 0.50117
NM_130837.3(OPA1):c.*2092C>T rs1056390 0.46950
NM_130837.3(OPA1):c.*2391T>C rs11719309 0.46817
NM_012062.5(DNM1L):c.1674+36T>A rs4506737 0.40113
NM_032730.5(RTN4IP1):c.114T>A (p.Pro38=) rs1987623 0.39946
NM_001098.3(ACO2):c.836-54T>C rs203320 0.39646
NM_001098.3(ACO2):c.836-118C>T rs9619974 0.36682
NM_001098.3(ACO2):c.670C>T (p.Leu224=) rs1799932 0.36650
NM_032730.5(RTN4IP1):c.495+27A>G rs1870867 0.36066
NM_130837.3(OPA1):c.*2344A>G rs1056392 0.35025
NM_001098.3(ACO2):c.1032+17C>T rs203319 0.33591
NM_001098.3(ACO2):c.192A>C (p.Thr64=) rs137831 0.29094
NM_006796.3(AFG3L2):c.*28G>C rs1129115 0.28281
NM_032273.4(TMEM126A):c.395+10A>G rs2196168 0.28103
NM_014263.4(YME1L1):c.2008-7G>A rs11015538 0.23338
NM_014263.4(YME1L1):c.691+16A>G rs2275752 0.22144
NM_025136.4(OPA3):c.*3874G>A rs62109650 0.21272
NM_001098.3(ACO2):c.1370+48A>G rs12484694 0.18477
NM_012062.5(DNM1L):c.252G>A (p.Gly84=) rs2272238 0.15635
NM_012062.5(DNM1L):c.*21G>C rs1059422 0.15548
NM_012062.5(DNM1L):c.*22A>T rs3200103 0.15544
NM_012062.5(DNM1L):c.120A>C (p.Ser40=) rs10844308 0.14357
NM_012062.5(DNM1L):c.918A>G (p.Thr306=) rs10844318 0.14349
NM_025136.4(OPA3):c.*5523G>A rs57585727 0.13908
NM_025136.4(OPA3):c.*638T>A rs150575877 0.13416
NM_025136.4(OPA3):c.*5525C>T rs117230006 0.11413
NM_025136.4(OPA3):c.*4672G>A rs11669246 0.11223
NM_025136.4(OPA3):c.*3212G>A rs79317386 0.11204
NM_130837.3(OPA1):c.*2873A>T rs10419 0.10858
NM_025136.4(OPA3):c.*2485G>A rs8106584 0.08922
NM_025136.4(OPA3):c.*3722G>A rs73568973 0.08874
NM_014263.4(YME1L1):c.39A>G (p.Thr13=) rs11538750 0.07544
NM_130837.3(OPA1):c.*3027A>G rs56329083 0.06966
NM_032273.4(TMEM126A):c.-69T>A rs17148285 0.06369
NM_025136.3(OPA3):c.-75G>A rs45598532 0.06189
NM_025136.4(OPA3):c.*577T>C rs112654759 0.06094
NM_025136.4(OPA3):c.*3878A>G rs79660166 0.06091
NM_025136.4(OPA3):c.*272G>A rs7246349 0.05540
NM_025136.4(OPA3):c.*3531G>T rs112899014 0.05413
NM_025136.4(OPA3):c.*3038G>A rs73568982 0.05112
NM_025136.3(OPA3):c.-86G>A rs73570932 0.04481
NM_025136.4(OPA3):c.*1387C>T rs73568986 0.04457
NM_025136.4(OPA3):c.*7015G>A rs112948303 0.04300
NM_130837.3(OPA1):c.2778+11C>G rs111688935 0.03759
NM_130837.3(OPA1):c.1773A>C (p.Ala591=) rs78767626 0.03184
NM_025136.4(OPA3):c.142+69G>C rs62111684 0.03152
NM_130837.3(OPA1):c.629C>T (p.Ala210Val) rs34307082 0.02411
NM_130837.3(OPA1):c.*2286T>C rs115575058 0.02406
NM_025136.4(OPA3):c.-38A>G rs45527139 0.02241
NM_025136.4(OPA3):c.*6394G>A rs151030695 0.02197
NM_025136.4(OPA3):c.*3972C>T rs147972697 0.01701
NM_025136.4(OPA3):c.*7085A>G rs67373144 0.01608
NM_025136.4(OPA3):c.*6275T>C rs74689727 0.01461
NM_152296.5(ATP1A3):c.*106T>C rs180885057 0.01288
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=) rs61733017 0.01238
NM_025136.4(OPA3):c.*1340C>T rs12104391 0.01224
NM_025136.4(OPA3):c.*2469G>A rs115566341 0.01165
NM_025136.4(OPA3):c.*1760C>T rs75401979 0.01143
NM_025136.4(OPA3):c.*4794C>T rs114917731 0.01114
NM_025136.4(OPA3):c.*1836C>T rs74717111 0.01070
NM_025136.4(OPA3):c.*3222C>T rs73568980 0.00971
NM_130837.3(OPA1):c.*2408A>G rs73069788 0.00927
NM_012062.5(DNM1L):c.741-19G>A rs79520527 0.00897
NM_025136.4(OPA3):c.*6294A>C rs114655581 0.00810
NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=) rs35272495 0.00802
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_130837.3(OPA1):c.2961C>T (p.Arg987=) rs35540805 0.00758
NM_130837.3(OPA1):c.2049A>G (p.Val683=) rs73069703 0.00753
NM_130837.3(OPA1):c.2973G>A (p.Ala991=) rs117475774 0.00742
NM_025136.4(OPA3):c.*4853T>A rs886054516 0.00709
NM_025136.4(OPA3):c.*1855T>C rs146599259 0.00697
NM_130837.3(OPA1):c.*623G>A rs146468889 0.00689
NM_032273.4(TMEM126A):c.395+5G>A rs115906592 0.00680
NM_025136.4(OPA3):c.*5905G>A rs116705343 0.00675
NM_130837.3(OPA1):c.*1031A>T rs114606850 0.00670
NM_025136.4(OPA3):c.*6767G>A rs142898530 0.00668
NM_025136.4(OPA3):c.*2696C>G rs148705681 0.00585
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_025136.4(OPA3):c.*362T>C rs73942919 0.00539
NM_025136.4(OPA3):c.*6442A>G rs76825983 0.00518
NM_025136.4(OPA3):c.*1642A>G rs144894771 0.00484
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732 0.00477
NM_025136.4(OPA3):c.*4954C>T rs146646433 0.00462
NM_025136.4(OPA3):c.*6208C>T rs139798464 0.00458
NM_025136.4(OPA3):c.*398G>T rs183851663 0.00449
NM_025136.4(OPA3):c.*3117C>T rs569595277 0.00427
NM_130837.3(OPA1):c.*220A>G rs76421015 0.00427
NM_014263.4(YME1L1):c.541-16T>C rs2275751 0.00418
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_025136.4(OPA3):c.*2101A>T rs139606810 0.00363
NM_025136.4(OPA3):c.*6101A>G rs187296782 0.00363
NM_025136.4(OPA3):c.*80G>T rs540023428 0.00315
NM_152296.5(ATP1A3):c.2819+20G>A rs148592392 0.00279
NM_025136.4(OPA3):c.*5944G>A rs190885103 0.00271
NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln) rs146573578 0.00247
NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=) rs145374789 0.00243
NM_032273.4(TMEM126A):c.562T>A (p.Ser188Thr) rs34397695 0.00240
NM_032273.4(TMEM126A):c.154A>G (p.Ser52Gly) rs140047528 0.00239
NM_152296.5(ATP1A3):c.2921+11C>T rs190570469 0.00230
NM_025136.4(OPA3):c.*6554G>A rs184177890 0.00229
NM_130837.3(OPA1):c.1342A>C (p.Arg448=) rs149752576 0.00229
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys) rs75414918 0.00229
NM_025136.4(OPA3):c.*3755G>A rs555830952 0.00225
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406 0.00223
NM_025136.4(OPA3):c.*540G>T rs149360920 0.00220
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=) rs36100288 0.00220
NM_152296.5(ATP1A3):c.1944-20G>T rs200665663 0.00216
NM_025136.4(OPA3):c.*5510G>A rs180756622 0.00213
NM_130837.3(OPA1):c.321G>A (p.Ser107=) rs117888848 0.00212
NM_130837.3(OPA1):c.*376A>G rs142349183 0.00211
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00188
NM_025136.3(OPA3):c.-113T>C rs139731330 0.00185
NM_025136.4(OPA3):c.*422C>T rs116977551 0.00184
NM_130837.3(OPA1):c.1236A>G (p.Ala412=) rs150807064 0.00179
NM_152296.5(ATP1A3):c.2976C>T (p.Asp992=) rs146199765 0.00177
NM_032273.4(TMEM126A):c.191G>A (p.Arg64His) rs11556797 0.00161
NM_025136.4(OPA3):c.537A>G (p.Lys179=) rs140105522 0.00158
NM_025136.4(OPA3):c.*2008C>T rs144432336 0.00156
NM_025136.4(OPA3):c.*3360G>A rs545764728 0.00156
NM_025136.4(OPA3):c.*5565C>T rs145816878 0.00149
NM_152296.5(ATP1A3):c.1943+12A>T rs201197776 0.00146
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=) rs149898088 0.00140
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys) rs137978109 0.00135
NM_015560.2(OPA1):c.-172T>A rs146295726 0.00129
NM_025136.4(OPA3):c.*3884G>A rs187028696 0.00128
NM_025136.4(OPA3):c.*2490C>T rs11671670 0.00117
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys) rs151103940 0.00116
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) rs61732167 0.00112
NM_032730.5(RTN4IP1):c.5A>C (p.Glu2Ala) rs138612238 0.00110
NM_130837.3(OPA1):c.2880A>G (p.Arg960=) rs144898877 0.00109
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00108
NM_025136.4(OPA3):c.*6688G>A rs181576269 0.00102
NM_025136.4(OPA3):c.*2518A>G rs565012397 0.00096
NM_130837.3(OPA1):c.*1919T>A rs867799524 0.00095
NM_130837.3(OPA1):c.*1920C>A rs868274533 0.00095
NM_130837.3(OPA1):c.*2993C>A rs143991575 0.00094
NM_130837.3(OPA1):c.949-11A>C rs376681712 0.00094
NM_025136.4(OPA3):c.*4949G>A rs544881797 0.00092
NM_025136.4(OPA3):c.*5357G>A rs549141863 0.00092
NM_130837.3(OPA1):c.*2416C>T rs539683627 0.00091
NM_025136.4(OPA3):c.*1238G>A rs187216413 0.00088
NM_025136.4(OPA3):c.*677C>T rs560749495 0.00086
NM_025136.4(OPA3):c.249G>C (p.Leu83=) rs199692583 0.00080
NM_152296.5(ATP1A3):c.1260C>T (p.Arg420=) rs113909283 0.00080
NM_152296.5(ATP1A3):c.*315G>A rs571857150 0.00073
NM_025136.4(OPA3):c.*3350T>G rs181719786 0.00070
NM_130837.3(OPA1):c.254G>A (p.Arg85His) rs35630194 0.00068
NM_025136.4(OPA3):c.*698G>A rs561748985 0.00065
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=) rs141421692 0.00065
NM_001098.3(ACO2):c.719G>C (p.Gly240Ala) rs141878785 0.00064
NM_152296.5(ATP1A3):c.192G>A (p.Arg64=) rs146053862 0.00061
NM_025136.4(OPA3):c.*742A>T rs979052921 0.00059
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile) rs149600313 0.00058
NM_025136.4(OPA3):c.*6674T>C rs534603782 0.00056
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_001098.3(ACO2):c.1038G>A (p.Lys346=) rs144269243 0.00055
NM_130837.3(OPA1):c.32+14C>T rs201927764 0.00054
NM_025136.4(OPA3):c.*1614C>T rs185624158 0.00051
NM_130837.3(OPA1):c.1302T>G (p.Pro434=) rs139861334 0.00050
NM_130837.3(OPA1):c.*1425G>A rs117826024 0.00049
NM_025136.4(OPA3):c.*4846A>T rs1438623626 0.00048
NM_130837.3(OPA1):c.*1884C>T rs549889830 0.00046
NM_152296.5(ATP1A3):c.994-3C>G rs377256877 0.00046
NM_130837.3(OPA1):c.*694C>A rs190367068 0.00044
NM_130837.3(OPA1):c.*2283A>G rs886058259 0.00043
NM_025136.4(OPA3):c.*1213C>T rs539298843 0.00040
NM_025136.4(OPA3):c.*7181G>A rs74253369 0.00040
NM_032273.4(TMEM126A):c.280+14C>T rs117453673 0.00039
NM_130837.3(OPA1):c.*1039A>G rs548278496 0.00039
NM_130837.3(OPA1):c.2984-4A>G rs184273607 0.00039
NM_025136.4(OPA3):c.*6902G>A rs528812143 0.00037
NM_025136.4(OPA3):c.143-7C>T rs375551151 0.00036
NM_025136.4(OPA3):c.143-14C>T rs368939051 0.00034
NM_130837.3(OPA1):c.*863A>G rs193292545 0.00032
NM_025136.4(OPA3):c.*1070C>T rs146989248 0.00030
NM_130837.3(OPA1):c.*2694T>A rs886058262 0.00030
NM_025136.4(OPA3):c.*4372G>A rs573344031 0.00028
NM_130837.3(OPA1):c.2088G>A (p.Ala696=) rs138114609 0.00028
NM_025136.4(OPA3):c.*5660A>G rs935989223 0.00027
NM_130837.3(OPA1):c.*622C>T rs750359704 0.00027
NM_152296.5(ATP1A3):c.1503C>T (p.Pro501=) rs143904999 0.00027
NM_152296.5(ATP1A3):c.-148T>G rs769525784 0.00026
NM_152296.5(ATP1A3):c.1192+6C>T rs367771319 0.00026
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_012062.5(DNM1L):c.305C>T (p.Thr102Met) rs201929226 0.00024
NM_025136.4(OPA3):c.*2714C>T rs781539538 0.00024
NM_152296.5(ATP1A3):c.1193-4C>G rs200111818 0.00023
NC_000019.10:g.45529113G>A rs201078416 0.00022
NM_025136.4(OPA3):c.*6698G>T rs768694312 0.00022
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe) rs200243596 0.00022
NM_025136.4(OPA3):c.*1091C>G rs557691359 0.00021
NM_025136.4(OPA3):c.*3891C>T rs752997579 0.00021
NM_025136.4(OPA3):c.*5570C>T rs766783593 0.00021
NM_130837.3(OPA1):c.*2115G>A rs144079165 0.00021
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=) rs375255226 0.00021
NM_025136.4(OPA3):c.*5739C>T rs375835737 0.00020
NM_130837.3(OPA1):c.2592T>C (p.Leu864=) rs145999595 0.00020
NM_025136.4(OPA3):c.*5013A>G rs780964248 0.00019
NM_025136.4(OPA3):c.*6072A>G rs576104602 0.00019
NM_130837.3(OPA1):c.88C>T (p.Leu30=) rs185976555 0.00019
NM_025136.4(OPA3):c.*3278C>T rs770317628 0.00018
NM_025136.4(OPA3):c.*5597C>T rs560019290 0.00018
NM_025136.4(OPA3):c.*5923G>A rs149788703 0.00017
NM_025136.4(OPA3):c.*6626G>A rs139757997 0.00017
NM_130837.3(OPA1):c.*1815T>C rs570796106 0.00017
NM_130837.3(OPA1):c.2506C>T (p.Arg836Trp) rs190235251 0.00017
NM_130837.3(OPA1):c.70A>G (p.Ile24Val) rs201520438 0.00017
NC_000019.10:g.45529183T>A rs201888844 0.00016
NM_025136.3(OPA3):c.-96A>G rs566870092 0.00016
NM_025136.4(OPA3):c.33G>T (p.Leu11=) rs148805518 0.00016
NM_032730.5(RTN4IP1):c.254C>T (p.Pro85Leu) rs193121821 0.00016
NM_130837.3(OPA1):c.530G>T (p.Ser177Ile) rs150279202 0.00016
NM_152296.5(ATP1A3):c.2419-7C>T rs187436315 0.00016
NM_152296.5(ATP1A3):c.6+3A>G rs369853936 0.00016
NM_025136.4(OPA3):c.*3442A>G rs138449967 0.00015
NM_025136.4(OPA3):c.*1018A>G rs534682712 0.00014
NM_025136.4(OPA3):c.*5045C>T rs573380409 0.00014
NM_025136.4(OPA3):c.*649C>T rs886054537 0.00014
NM_130837.3(OPA1):c.344C>T (p.Ala115Val) rs200983556 0.00013
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=) rs146606627 0.00013
NM_130837.3(OPA1):c.-8C>T rs371988066 0.00012
NM_001098.3(ACO2):c.2051G>A (p.Arg684Gln) rs200345386 0.00011
NM_025136.4(OPA3):c.*5258A>G rs886054512 0.00011
NM_032273.4(TMEM126A):c.87G>C (p.Arg29Ser) rs142717432 0.00011
NM_130837.3(OPA1):c.*2839C>T rs867048244 0.00011
NM_130837.3(OPA1):c.*2902A>G rs1030937333 0.00011
NM_152296.5(ATP1A3):c.147T>C (p.Cys49=) rs376960579 0.00011
NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=) rs146600566 0.00011
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=) rs142806181 0.00011
NM_152296.5(ATP1A3):c.2559C>T (p.Leu853=) rs369555293 0.00010
NM_025136.4(OPA3):c.*1863T>G rs769185702 0.00009
NM_025136.4(OPA3):c.*4773A>G rs1409082190 0.00009
NM_025136.4(OPA3):c.*5496C>T rs886054511 0.00009
NM_130837.3(OPA1):c.*322G>A rs886058257 0.00009
NM_130837.3(OPA1):c.-102G>A rs886058255 0.00009
NM_130837.3(OPA1):c.790-4T>A rs374509936 0.00009
NM_152296.5(ATP1A3):c.1131A>G (p.Thr377=) rs143242360 0.00009
NM_152296.5(ATP1A3):c.1776G>A (p.Ala592=) rs2288507 0.00009
NM_152296.5(ATP1A3):c.2367G>A (p.Pro789=) rs372737275 0.00009
NC_000019.10:g.45529193A>G rs535476484 0.00008
NM_025136.4(OPA3):c.*3644C>T rs914226398 0.00008
NM_025136.4(OPA3):c.*4521G>A rs886054521 0.00008
NM_025136.4(OPA3):c.*5873C>T rs886054509 0.00008
NM_130837.3(OPA1):c.-144T>C rs1057509207 0.00008
NM_001098.3(ACO2):c.941-19C>T rs375652573 0.00007
NM_025136.4(OPA3):c.*6361G>A rs1020767023 0.00007
NM_025136.4(OPA3):c.*821A>T rs886054536 0.00007
NM_152296.5(ATP1A3):c.1086C>T (p.Thr362=) rs186453162 0.00007
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=) rs116979196 0.00007
NM_001098.3(ACO2):c.2050C>T (p.Arg684Trp) rs768950391 0.00006
NM_016011.4(MECR):c.772C>T (p.Arg258Trp) rs145192716 0.00006
NM_016011.5(MECR):c.830+2dup rs756421370 0.00006
NM_025136.4(OPA3):c.*2545G>A rs886054528 0.00006
NM_025136.4(OPA3):c.*4233G>A rs576081836 0.00006
NM_025136.4(OPA3):c.*4585C>T rs886054520 0.00006
NM_025136.4(OPA3):c.*4618G>A rs1165606483 0.00006
NM_025136.4(OPA3):c.*5277G>A rs535986790 0.00006
NM_025136.4(OPA3):c.*6278G>A rs886054507 0.00006
NM_025136.4(OPA3):c.428C>T (p.Ala143Val) rs553598004 0.00006
NM_130837.3(OPA1):c.*2801A>G rs148268725 0.00006
NM_130837.3(OPA1):c.678+13G>C rs561115644 0.00006
NM_152296.5(ATP1A3):c.-64A>G rs373531937 0.00006
NM_152296.5(ATP1A3):c.1368C>T (p.Ser456=) rs782325595 0.00006
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=) rs141412861 0.00006
NM_006796.3(AFG3L2):c.1762G>A (p.Ala588Thr) rs374828650 0.00005
NM_025136.4(OPA3):c.*1462C>T rs978328141 0.00005
NM_025136.4(OPA3):c.*4586G>A rs886054519 0.00005
NM_025136.4(OPA3):c.*5730C>T rs1308663626 0.00005
NM_025136.4(OPA3):c.*7018G>C rs557041940 0.00005
NM_130837.3(OPA1):c.-3G>A rs964787052 0.00005
NM_130837.3(OPA1):c.2331+10T>C rs371096629 0.00005
NM_152296.5(ATP1A3):c.994-4C>G rs373698149 0.00005
NM_001098.3(ACO2):c.1628C>T (p.Thr543Ile) rs763511343 0.00004
NM_025136.4(OPA3):c.*2089T>C rs886054529 0.00004
NM_025136.4(OPA3):c.*3845C>T rs886054525 0.00004
NM_025136.4(OPA3):c.*6125G>A rs780617440 0.00004
NM_025136.4(OPA3):c.*6570G>C rs773109015 0.00004
NM_025136.4(OPA3):c.*761C>T rs1020788721 0.00004
NM_025136.4(OPA3):c.*922G>T rs886054535 0.00004
NM_025136.4(OPA3):c.303C>T (p.Tyr101=) rs752010426 0.00004
NM_025136.4(OPA3):c.372C>A (p.Asp124Glu) rs755348694 0.00004
NM_130837.3(OPA1):c.*56C>T rs564487151 0.00004
NM_130837.3(OPA1):c.1016C>T (p.Thr339Met) rs141326740 0.00004
NM_130837.3(OPA1):c.2531A>G (p.Asn844Ser) rs200428940 0.00004
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys) rs372435892 0.00004
NM_130837.3(OPA1):c.339C>T (p.Tyr113=) rs779836454 0.00004
NM_130837.3(OPA1):c.617C>T (p.Pro206Leu) rs772090345 0.00004
NM_152296.5(ATP1A3):c.1134C>T (p.Val378=) rs180710845 0.00004
NM_152296.5(ATP1A3):c.1527C>T (p.Ser509=) rs199625170 0.00004
NM_152296.5(ATP1A3):c.1974C>T (p.Thr658=) rs145869619 0.00004
NM_025136.4(OPA3):c.*1214G>A rs368652706 0.00003
NM_025136.4(OPA3):c.*1693C>T rs904110306 0.00003
NM_025136.4(OPA3):c.*3128C>G rs143702010 0.00003
NM_025136.4(OPA3):c.*3754C>T rs981647131 0.00003
NM_025136.4(OPA3):c.143-5C>A rs770452409 0.00003
NM_025136.4(OPA3):c.39C>T (p.Tyr13=) rs374843726 0.00003
NM_025136.4(OPA3):c.526G>A (p.Ala176Thr) rs755841329 0.00003
NM_032730.5(RTN4IP1):c.308G>A (p.Arg103His) rs372054380 0.00003
NM_130837.3(OPA1):c.*1266G>A rs932178332 0.00003
NM_130837.3(OPA1):c.*2156A>G rs886058258 0.00003
NM_130837.3(OPA1):c.*743G>C rs377022565 0.00003
NM_130837.3(OPA1):c.1193A>C (p.Asp398Ala) rs756981921 0.00003
NM_152296.5(ATP1A3):c.2418+18C>T rs369674143 0.00003
NM_006150.5(PRICKLE3):c.157C>T (p.Arg53Trp) rs2065470015 0.00002
NM_006796.3(AFG3L2):c.2030T>C (p.Leu677Pro) rs778455371 0.00002
NM_025136.4(OPA3):c.*1095C>A rs148228876 0.00002
NM_025136.4(OPA3):c.*420A>G rs868102539 0.00002
NM_025136.4(OPA3):c.*4439C>T rs538388889 0.00002
NM_025136.4(OPA3):c.*5644A>G rs1393651897 0.00002
NM_025136.4(OPA3):c.*5783G>A rs550679720 0.00002
NM_025136.4(OPA3):c.*6124C>T rs1389766474 0.00002
NM_025136.4(OPA3):c.*964G>A rs1969350328 0.00002
NM_025136.4(OPA3):c.142+16A>G rs1969904812 0.00002
NM_025136.4(OPA3):c.15G>C (p.Ala5=) rs763315476 0.00002
NM_025136.4(OPA3):c.241G>A (p.Ala81Thr) rs186796646 0.00002
NM_025136.4(OPA3):c.333G>A (p.Lys111=) rs761583193 0.00002
NM_025136.4(OPA3):c.336G>A (p.Glu112=) rs146349367 0.00002
NM_025136.4(OPA3):c.351T>C (p.Ala117=) rs760489108 0.00002
NM_025136.4(OPA3):c.519A>G (p.Ala173=) rs1200579847 0.00002
NM_025136.4(OPA3):c.528G>A (p.Ala176=) rs752240099 0.00002
NM_025136.4(OPA3):c.540G>A (p.Ter180=) rs774281852 0.00002
NM_130837.3(OPA1):c.*403T>C rs779665090 0.00002
NM_130837.3(OPA1):c.*614A>G rs1321516515 0.00002
NM_130837.3(OPA1):c.1286G>A (p.Gly429Asp) rs146003075 0.00002
NM_130837.3(OPA1):c.1591G>A (p.Val531Ile) rs779722414 0.00002
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile) rs375733283 0.00002
NM_130837.3(OPA1):c.556+2T>G rs762390227 0.00002
NM_130837.3(OPA1):c.740G>A (p.Arg247His) rs138350727 0.00002
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=) rs1353417724 0.00002
NM_152296.5(ATP1A3):c.1192+3G>A rs374542368 0.00002
NM_152296.5(ATP1A3):c.1605C>T (p.Leu535=) rs148097195 0.00002
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=) rs200616931 0.00002
NM_152296.5(ATP1A3):c.2819+12G>A rs782653272 0.00002
NM_152296.5(ATP1A3):c.741G>C (p.Val247=) rs767234141 0.00002
NC_000019.10:g.45529065G>A rs1162879805 0.00001
NM_001017989.3(OPA3):c.481G>A (p.Ala161Thr) rs1445523438 0.00001
NM_001098.3(ACO2):c.2012G>A (p.Arg671Gln) rs755024692 0.00001
NM_001098.3(ACO2):c.76C>T (p.Leu26=) rs1057518832 0.00001
NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val) rs912546325 0.00001
NM_012062.5(DNM1L):c.1596+2T>A rs769684495 0.00001
NM_025136.4(OPA3):c.*1052C>T rs539341907 0.00001
NM_025136.4(OPA3):c.*1063G>A rs1384983234 0.00001
NM_025136.4(OPA3):c.*1193A>G rs1969345485 0.00001
NM_025136.4(OPA3):c.*1496C>T rs938973035 0.00001
NM_025136.4(OPA3):c.*1799A>G rs886054530 0.00001
NM_025136.4(OPA3):c.*2041C>G rs1200054696 0.00001
NM_025136.4(OPA3):c.*2620C>A rs528208456 0.00001
NM_025136.4(OPA3):c.*322A>G rs886054539 0.00001
NM_025136.4(OPA3):c.*3472G>A rs1305422353 0.00001
NM_025136.4(OPA3):c.*3581C>T rs576070088 0.00001
NM_025136.4(OPA3):c.*4464G>T rs886054522 0.00001
NM_025136.4(OPA3):c.*4763C>A rs549495140 0.00001
NM_025136.4(OPA3):c.*5888C>T rs886054508 0.00001
NM_025136.4(OPA3):c.*6046G>A rs1010630541 0.00001
NM_025136.4(OPA3):c.*6461C>T rs886054505 0.00001
NM_025136.4(OPA3):c.*6773G>T rs886054504 0.00001
NM_025136.4(OPA3):c.*7072A>T rs1247746346 0.00001
NM_025136.4(OPA3):c.*7183G>A rs941194280 0.00001
NM_025136.4(OPA3):c.120T>C (p.Tyr40=) rs752657560 0.00001
NM_025136.4(OPA3):c.123C>G (p.Ile41Met) rs763083098 0.00001
NM_025136.4(OPA3):c.142+10A>T rs539476253 0.00001
NM_025136.4(OPA3):c.143-6C>T rs760030315 0.00001
NM_025136.4(OPA3):c.143-9C>G rs1342185871 0.00001
NM_025136.4(OPA3):c.197C>T (p.Thr66Met) rs753129998 0.00001
NM_025136.4(OPA3):c.222G>A (p.Glu74=) rs1241138154 0.00001
NM_025136.4(OPA3):c.224C>T (p.Ala75Val) rs769541845 0.00001
NM_025136.4(OPA3):c.237G>C (p.Leu79=) rs943536843 0.00001
NM_025136.4(OPA3):c.252G>A (p.Leu84=) rs757297634 0.00001
NM_025136.4(OPA3):c.255C>T (p.Gly85=) rs951025429 0.00001
NM_025136.4(OPA3):c.305_322dup (p.Gln107_Gln108insArgArgHisGlnAlaGln) rs1599964564 0.00001
NM_025136.4(OPA3):c.354C>T (p.Ala118=) rs745763712 0.00001
NM_025136.4(OPA3):c.355T>A (p.Trp119Arg) rs375471439 0.00001
NM_025136.4(OPA3):c.373G>A (p.Glu125Lys) rs1346674058 0.00001
NM_025136.4(OPA3):c.381C>T (p.Gly127=) rs1405668670 0.00001
NM_025136.4(OPA3):c.404C>G (p.Ala135Gly) rs372640359 0.00001
NM_025136.4(OPA3):c.416A>G (p.Gln139Arg) rs1399150102 0.00001
NM_025136.4(OPA3):c.426G>A (p.Ala142=) rs1289276507 0.00001
NM_025136.4(OPA3):c.441C>G (p.Gly147=) rs1049255184 0.00001
NM_025136.4(OPA3):c.444C>T (p.Ala148=) rs759536853 0.00001
NM_025136.4(OPA3):c.453A>G (p.Glu151=) rs1338422249 0.00001
NM_025136.4(OPA3):c.487C>T (p.Leu163Phe) rs780492515 0.00001
NM_025136.4(OPA3):c.499G>C (p.Gly167Arg) rs1364874488 0.00001
NM_025136.4(OPA3):c.503G>A (p.Arg168Gln) rs779505447 0.00001
NM_025136.4(OPA3):c.508G>A (p.Ala170Thr) rs374639297 0.00001
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter) rs1568413644 0.00001
NM_025136.4(OPA3):c.540G>C (p.Ter180Tyr) rs774281852 0.00001
NM_025136.4(OPA3):c.78T>C (p.Arg26=) rs1372988634 0.00001
NM_025136.4(OPA3):c.87G>A (p.Glu29=) rs1194417590 0.00001
NM_025136.4(OPA3):c.94C>A (p.Arg32Ser) rs753632531 0.00001
NM_032273.4(TMEM126A):c.-16G>C rs548326357 0.00001
NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter) rs121434508 0.00001
NM_032273.4(TMEM126A):c.385C>G (p.Leu129Val) rs546358774 0.00001
NM_032273.4(TMEM126A):c.487A>G (p.Ile163Val) rs886048713 0.00001
NM_032273.4(TMEM126A):c.502A>G (p.Met168Val) rs886048714 0.00001
NM_032730.5(RTN4IP1):c.601A>T (p.Lys201Ter) rs200457692 0.00001
NM_032730.5(RTN4IP1):c.806+1G>A rs772984484 0.00001
NM_032730.5(RTN4IP1):c.92G>C (p.Arg31Thr) rs1327054264 0.00001
NM_130837.3(OPA1):c.*1131C>T rs1004141070 0.00001
NM_130837.3(OPA1):c.*1581A>C rs976048011 0.00001
NM_130837.3(OPA1):c.*2241A>G rs778074372 0.00001
NM_130837.3(OPA1):c.*228A>G rs577816325 0.00001
NM_130837.3(OPA1):c.*2861A>G rs1456505503 0.00001
NM_130837.3(OPA1):c.*341G>T rs1042977453 0.00001
NM_130837.3(OPA1):c.-10C>T rs775614028 0.00001
NM_130837.3(OPA1):c.1036-9T>C rs531187028 0.00001
NM_130837.3(OPA1):c.1262G>A (p.Arg421Gln) rs535885178 0.00001
NM_130837.3(OPA1):c.212G>A (p.Arg71His) rs766106312 0.00001
NM_130837.3(OPA1):c.2429G>A (p.Arg810His) rs762258708 0.00001
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp) rs143252541 0.00001
NM_130837.3(OPA1):c.2960G>A (p.Arg987His) rs1160551128 0.00001
NM_130837.3(OPA1):c.3016G>A (p.Ala1006Thr) rs1166323851 0.00001
NM_130837.3(OPA1):c.301C>T (p.Arg101Cys) rs371943668 0.00001
NM_130837.3(OPA1):c.851A>G (p.Tyr284Cys) rs760177302 0.00001
NM_152296.5(ATP1A3):c.1080G>A (p.Thr360=) rs370511776 0.00001
NM_152296.5(ATP1A3):c.1218C>T (p.His406=) rs1238469762 0.00001
NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=) rs781822752 0.00001
NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr) rs782744167 0.00001
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile) rs781786336 0.00001
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=) rs373180830 0.00001
NM_152296.5(ATP1A3):c.384C>G (p.Ala128=) rs782662538 0.00001
GRCh37/hg19 3q29(chr3:193343827-194599635)x1
GRCh38/hg38 6q21(chr6:106539306-106649299)x1
NC_000019.10:g.(?_45584613)_(45584774_?)del
NC_000019.10:g.45529163G>A rs1555730159
NC_000019.10:g.45529185C>T rs566450630
NC_000019.9:g.(?_46056772)_(46057189_?)del
NC_000019.9:g.(?_46056772)_(46088022_?)del
NC_012920.1(MT-ATP6):m.8603T>G
NC_012920.1(MT-ATP6):m.8686T>C rs1569484231
NC_012920.1(MT-ATP6):m.8783G>A rs1603221804
NC_012920.1(MT-ATP6):m.8851T>C rs199476136
NC_012920.1(MT-ATP6):m.8969G>A rs794726857
NC_012920.1(MT-ATP6):m.8993T>C rs199476133
NC_012920.1(MT-ATP6):m.8993T>G rs199476133
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NC_012920.1(MT-ATP6):m.9101T>C rs199476134
NC_012920.1(MT-ATP6):m.9176T>C rs199476135
NC_012920.1(MT-ATP6):m.9176T>G rs199476135
NC_012920.1(MT-ATP6):m.9185T>C rs199476138
NC_012920.1(MT-CO1):m.7444G>A rs199474822
NC_012920.1(MT-CO3):m.9205_9206del rs199476137
NC_012920.1(MT-CO3):m.9438G>A rs267606611
NC_012920.1(MT-CO3):m.9804G>A rs200613617
NC_012920.1(MT-CYB):m.14795T>C rs1603224896
NC_012920.1(MT-CYB):m.14831G>A rs199795644
NC_012920.1(MT-CYB):m.15150G>A rs207460000
NC_012920.1(MT-CYB):m.15257G>A rs41518645
NC_012920.1(MT-CYB):m.15437G>A rs878853058
NC_012920.1(MT-CYB):m.15485C>T
NC_012920.1(MT-CYB):m.15579A>G rs207460002
NC_012920.1(MT-CYB):m.15812G>A rs200336777
NC_012920.1(MT-CYB):m.235A>G rs3937037
NC_012920.1(MT-CYB):m.249del rs879043227
NC_012920.1(MT-ND1):m.3394T>C rs41460449
NC_012920.1(MT-ND1):m.3460G>A rs199476118
NC_012920.1(MT-ND1):m.3697G>A rs199476122
NC_012920.1(MT-ND1):m.3946G>A rs199476123
NC_012920.1(MT-ND1):m.4025C>T rs397515509
NC_012920.1(MT-ND1):m.4136A>G rs199476121
NC_012920.1(MT-ND1):m.4160T>C rs199476119
NC_012920.1(MT-ND1):m.4216T>C rs1599988
NC_012920.1(MT-ND2):m.4640C>A rs387906426
NC_012920.1(MT-ND2):m.4917A>G rs28357980
NC_012920.1(MT-ND3):m.10197G>A rs267606891
NC_012920.1(MT-ND3):m.10237T>C rs1556423787
NC_012920.1(MT-ND4):m.11253T>C rs200145866
NC_012920.1(MT-ND4):m.11360A>G rs878928689
NC_012920.1(MT-ND4):m.11696G>A rs200873900
NC_012920.1(MT-ND4):m.11777C>A rs28384199
NC_012920.1(MT-ND4):m.11778G>A rs199476112
NC_012920.1(MT-ND5):m.12338T>C rs201863060
NC_012920.1(MT-ND5):m.12425del rs1603223730
NC_012920.1(MT-ND5):m.12706T>C (p.Phe124Leu) rs267606893
NC_012920.1(MT-ND5):m.12811T>C rs199974018
NC_012920.1(MT-ND5):m.12923G>A
NC_012920.1(MT-ND5):m.13042G>A rs267606898
NC_012920.1(MT-ND5):m.13045A>C rs267606895
NC_012920.1(MT-ND5):m.13051G>A rs1131692063
NC_012920.1(MT-ND5):m.13063G>A rs1603224017
NC_012920.1(MT-ND5):m.13094T>C rs1603224029
NC_012920.1(MT-ND5):m.13637A>G rs200855215
NC_012920.1(MT-ND5):m.13708G>A rs28359178
NC_012920.1(MT-ND5):m.13730G>A rs387906425
NC_012920.1(MT-ND5):m.13760C>T rs1603224340
NC_012920.1(MT-ND5):m.13763C>T rs1603224344
NC_012920.1(MT-ND6):m.14279G>A rs869025187
NC_012920.1(MT-ND6):m.14325T>C rs397515505
NC_012920.1(MT-ND6):m.14459G>A rs199476105
NC_012920.1(MT-ND6):m.14482C>A rs199476108
NC_012920.1(MT-ND6):m.14484T>C rs199476104
NC_012920.1(MT-ND6):m.14487T>C rs199476109
NC_012920.1(MT-ND6):m.14498T>C rs869025186
NC_012920.1(MT-ND6):m.14500A>T
NC_012920.1(MT-ND6):m.14502T>C rs201327354
NC_012920.1(MT-ND6):m.14596A>T rs387906424
NC_012920.1(MT-ND6):m.14668C>T rs28357678
NC_012920.1(MT-TL1):m.3275C>T rs1057516057
NC_012920.1:m.9237G>A rs1057516064
NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter) rs1225701554
NM_001017989.3(OPA3):c.445del (p.Leu149fs) rs780299639
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs) rs1599947052
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs) rs1555730141
NM_001029896.2(WDR45):c.107C>A (p.Pro36His)
NM_001029896.2(WDR45):c.236-1G>T
NM_001098.3(ACO2):c.1254dup (p.Gly419fs)
NM_001098.3(ACO2):c.1348C>T (p.Pro450Ser)
NM_001098.3(ACO2):c.1387G>T (p.Gly463Trp) rs2006715
NM_001098.3(ACO2):c.1442A>C (p.Asp481Ala)
NM_001098.3(ACO2):c.1507G>T (p.Gly503Ter) rs2146139034
NM_001098.3(ACO2):c.1534G>A (p.Asp512Asn)
NM_001098.3(ACO2):c.174-52G>T rs2076199
NM_001098.3(ACO2):c.1819C>T (p.Arg607Cys) rs864309499
NM_001098.3(ACO2):c.1823_1896dup (p.Arg633fs)
NM_001098.3(ACO2):c.1831_1833delinsC (p.Asp611fs)
NM_001098.3(ACO2):c.2015A>C (p.Glu672Ala)
NM_001098.3(ACO2):c.2145CAA[1] (p.Asn716del) rs2066638829
NM_001098.3(ACO2):c.2253dup (p.Ile752fs) rs2066653512
NM_001098.3(ACO2):c.317C>T (p.Ala106Val) rs2146115810
NM_001098.3(ACO2):c.36+262C>T
NM_001098.3(ACO2):c.36G>A (p.Gln12=)
NM_001098.3(ACO2):c.75C>T (p.Val25=) rs1057518833
NM_001098.3(ACO2):c.[1894G>A];[487G>T]
NM_001377299.1(NDUFS2):c.268G>A (p.Ala90Thr) rs1553249704
NM_003143.3(SSBP1):c.113G>A (p.Arg38Gln) rs1799652893
NM_003143.3(SSBP1):c.119G>T (p.Gly40Val) rs1799653139
NM_003143.3(SSBP1):c.320G>A (p.Arg107Gln) rs1799747454
NM_003143.3(SSBP1):c.422G>A (p.Ser141Asn) rs1799915649
NM_006269.2(RP1):c.4376A>G (p.Glu1459Gly) rs1315126444
NM_006796.3(AFG3L2):c.1010G>A (p.Gly337Glu) rs1908566777
NM_006796.3(AFG3L2):c.1013C>A (p.Ala338Glu)
NM_006796.3(AFG3L2):c.1064C>T (p.Thr355Met) rs1057522195
NM_006796.3(AFG3L2):c.1220A>G (p.Asp407Gly) rs1908371616
NM_006796.3(AFG3L2):c.1270C>T (p.Gln424Ter)
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn) rs2143165387
NM_006796.3(AFG3L2):c.1402C>T (p.Arg468Cys) rs1020764190
NM_006796.3(AFG3L2):c.1541C>T (p.Pro514Leu) rs1908300748
NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr)
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006796.3(AFG3L2):c.2312C>T (p.Ser771Leu)
NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile) rs117182113
NM_006796.3(AFG3L2):c.463G>A (p.Gly155Ser) rs863223888
NM_006796.3(AFG3L2):c.753-55T>C rs7407640
NM_006796.3(AFG3L2):c.965A>G (p.Glu322Gly)
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys) rs863223953
NM_012062.5(DNM1L):c.1289G>A (p.Arg430His) rs2137523963
NM_012062.5(DNM1L):c.1292G>A (p.Cys431Tyr) rs1064794656
NM_012062.5(DNM1L):c.1885-15del rs863223951
NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys) rs1565548029
NM_012062.5(DNM1L):c.575C>A (p.Ala192Glu) rs1555119216
NM_012062.5(DNM1L):c.5A>C (p.Glu2Ala) rs1555229948
NM_012062.5(DNM1L):c.763_764dup (p.Lys256fs) rs1592631789
NM_014263.4(YME1L1):c.2060A>G (p.Lys687Arg) rs758233530
NM_014263.4(YME1L1):c.278C>G (p.Ser93Cys)
NM_014263.4(YME1L1):c.445C>T (p.Arg149Trp) rs1057519312
NM_015560.2(OPA1):c.-182C>A rs532165115
NM_016011.5(MECR):c.176+1G>A
NM_016011.5(MECR):c.534C>G (p.Phe178Leu)
NM_019008.6(MIEF1):c.436C>T (p.Arg146Trp)
NM_019008.6(MIEF1):c.718T>A (p.Tyr240Asn)
NM_025136.4(OPA3):c.*1076A>G rs886054533
NM_025136.4(OPA3):c.*1254A>C rs886054532
NM_025136.4(OPA3):c.*1478A>G rs886054531
NM_025136.4(OPA3):c.*1761A>T rs141446737
NM_025136.4(OPA3):c.*2188G>A rs1969330324
NM_025136.4(OPA3):c.*2198C>T rs1969330113
NM_025136.4(OPA3):c.*2590G>T rs886054527
NM_025136.4(OPA3):c.*2662G>A rs1969322157
NM_025136.4(OPA3):c.*2702G>T rs886054526
NM_025136.4(OPA3):c.*2726G>C rs993813343
NM_025136.4(OPA3):c.*2859A>T rs534780094
NM_025136.4(OPA3):c.*2896G>A rs190488484
NM_025136.4(OPA3):c.*2964T>C rs1969317127
NM_025136.4(OPA3):c.*302C>T rs886054540
NM_025136.4(OPA3):c.*3156G>T rs1969314043
NM_025136.4(OPA3):c.*3245C>T rs1969312880
NM_025136.4(OPA3):c.*3295C>G rs1969311980
NM_025136.4(OPA3):c.*3358C>G rs965480314
NM_025136.4(OPA3):c.*3496C>G rs749084024
NM_025136.4(OPA3):c.*3570C>T rs1969307390
NM_025136.4(OPA3):c.*3669G>T rs1024454874
NM_025136.4(OPA3):c.*3804G>A rs890552307
NM_025136.4(OPA3):c.*4241C>T rs375276027
NM_025136.4(OPA3):c.*4419C>T rs886054523
NM_025136.4(OPA3):c.*4771C>G rs972332094
NM_025136.4(OPA3):c.*4857A>T rs4803833
NM_025136.4(OPA3):c.*4969C>G rs886054513
NM_025136.4(OPA3):c.*4975C>T rs567309052
NM_025136.4(OPA3):c.*545G>T rs886054538
NM_025136.4(OPA3):c.*5774G>C rs886054510
NM_025136.4(OPA3):c.*5774G>T rs886054510
NM_025136.4(OPA3):c.*6289A>G rs182293743
NM_025136.4(OPA3):c.*6766C>T rs978118927
NM_025136.4(OPA3):c.*690G>T rs1969355536
NM_025136.4(OPA3):c.*713C>G rs143735864
NM_025136.4(OPA3):c.103G>T (p.Glu35Ter)
NM_025136.4(OPA3):c.109T>C (p.Phe37Leu)
NM_025136.4(OPA3):c.111C>T (p.Phe37=)
NM_025136.4(OPA3):c.115A>G (p.Thr39Ala)
NM_025136.4(OPA3):c.117C>T (p.Thr39=)
NM_025136.4(OPA3):c.119A>G (p.Tyr40Cys)
NM_025136.4(OPA3):c.11G>A (p.Gly4Asp)
NM_025136.4(OPA3):c.121A>G (p.Ile41Val)
NM_025136.4(OPA3):c.122T>G (p.Ile41Ser)
NM_025136.4(OPA3):c.123C>T (p.Ile41=)
NM_025136.4(OPA3):c.127C>G (p.Leu43Val) rs2122529195
NM_025136.4(OPA3):c.12C>T (p.Gly4=)
NM_025136.4(OPA3):c.131C>T (p.Pro44Leu) rs2122529178
NM_025136.4(OPA3):c.132G>C (p.Pro44=)
NM_025136.4(OPA3):c.135G>A (p.Pro45=) rs553414785
NM_025136.4(OPA3):c.135G>C (p.Pro45=)
NM_025136.4(OPA3):c.136G>A (p.Ala46Thr)
NM_025136.4(OPA3):c.140A>G (p.Gln47Arg)
NM_025136.4(OPA3):c.142+10A>C rs539476253
NM_025136.4(OPA3):c.142+11C>T
NM_025136.4(OPA3):c.142+12C>A
NM_025136.4(OPA3):c.142+13C>A
NM_025136.4(OPA3):c.142+13C>G
NM_025136.4(OPA3):c.142+13C>T
NM_025136.4(OPA3):c.142+17T>A
NM_025136.4(OPA3):c.142+18T>C rs1969904773
NM_025136.4(OPA3):c.142+20C>T
NM_025136.4(OPA3):c.142+2_142+3dup rs1555736791
NM_025136.4(OPA3):c.142+3_142+6del
NM_025136.4(OPA3):c.142+4A>T rs765495449
NM_025136.4(OPA3):c.142+5G>C rs1250409781
NM_025136.4(OPA3):c.142+9G>A
NM_025136.4(OPA3):c.142+9G>C
NM_025136.4(OPA3):c.143-12C>G
NM_025136.4(OPA3):c.143-12C>T
NM_025136.4(OPA3):c.143-13T>G rs1278896715
NM_025136.4(OPA3):c.143-16C>A
NM_025136.4(OPA3):c.143-16C>G
NM_025136.4(OPA3):c.143-16CT[2]
NM_025136.4(OPA3):c.143-17C>T
NM_025136.4(OPA3):c.143-18C>T
NM_025136.4(OPA3):c.143-1G>A
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_025136.4(OPA3):c.143-2_143-1delinsCC rs1969382362
NM_025136.4(OPA3):c.143-3C>A
NM_025136.4(OPA3):c.143-4G>T
NM_025136.4(OPA3):c.143-5C>T rs770452409
NM_025136.4(OPA3):c.143-5dup
NM_025136.4(OPA3):c.143-8C>T rs1315898626
NM_025136.4(OPA3):c.143-9C>A
NM_025136.4(OPA3):c.144G>A (p.Leu48=) rs2122440942
NM_025136.4(OPA3):c.145T>C (p.Tyr49His) rs1384629048
NM_025136.4(OPA3):c.152G>A (p.Trp51Ter)
NM_025136.4(OPA3):c.15G>A (p.Ala5=)
NM_025136.4(OPA3):c.164G>A (p.Arg55Gln)
NM_025136.4(OPA3):c.165G>T (p.Arg55=)
NM_025136.4(OPA3):c.168C>T (p.Thr56=)
NM_025136.4(OPA3):c.170A>G (p.Lys57Arg)
NM_025136.4(OPA3):c.17T>C (p.Phe6Ser) rs2122529643
NM_025136.4(OPA3):c.182T>C (p.Met61Thr) rs1052079541
NM_025136.4(OPA3):c.18C>T (p.Phe6=)
NM_025136.4(OPA3):c.191G>A (p.Arg64Gln)
NM_025136.4(OPA3):c.194G>T (p.Gly65Val)
NM_025136.4(OPA3):c.195C>A (p.Gly65=)
NM_025136.4(OPA3):c.198G>A (p.Thr66=)
NM_025136.4(OPA3):c.1A>G (p.Met1Val) rs1230629432
NM_025136.4(OPA3):c.201C>T (p.Val67=) rs539986269
NM_025136.4(OPA3):c.201del (p.Ile68fs)
NM_025136.4(OPA3):c.204C>A (p.Ile68=)
NM_025136.4(OPA3):c.206A>C (p.Lys69Thr) rs760083523
NM_025136.4(OPA3):c.206_258del (p.Lys69fs) rs2122440115
NM_025136.4(OPA3):c.210G>A (p.Pro70=)
NM_025136.4(OPA3):c.212T>C (p.Leu71Pro)
NM_025136.4(OPA3):c.213G>A (p.Leu71=) rs1258779986
NM_025136.4(OPA3):c.216C>T (p.Asn72=) rs772750356
NM_025136.4(OPA3):c.217dup (p.Glu73fs) rs1555732963
NM_025136.4(OPA3):c.21T>A (p.Pro7=)
NM_025136.4(OPA3):c.220G>A (p.Glu74Lys)
NM_025136.4(OPA3):c.220G>T (p.Glu74Ter)
NM_025136.4(OPA3):c.225G>A (p.Ala75=)
NM_025136.4(OPA3):c.226G>T (p.Ala76Ser)
NM_025136.4(OPA3):c.228A>T (p.Ala76=)
NM_025136.4(OPA3):c.235C>G (p.Leu79Val) rs886037828
NM_025136.4(OPA3):c.235C>T (p.Leu79=) rs886037828
NM_025136.4(OPA3):c.237G>A (p.Leu79=) rs943536843
NM_025136.4(OPA3):c.237G>T (p.Leu79=)
NM_025136.4(OPA3):c.238G>A (p.Gly80Ser)
NM_025136.4(OPA3):c.239G>T (p.Gly80Val) rs2122440257
NM_025136.4(OPA3):c.23T>C (p.Met8Thr)
NM_025136.4(OPA3):c.23T>G (p.Met8Arg)
NM_025136.4(OPA3):c.240C>T (p.Gly80=)
NM_025136.4(OPA3):c.244G>T (p.Glu82Ter)
NM_025136.4(OPA3):c.246G>A (p.Glu82=) rs1599964759
NM_025136.4(OPA3):c.247C>T (p.Leu83=)
NM_025136.4(OPA3):c.24G>A (p.Met8Ile)
NM_025136.4(OPA3):c.250C>T (p.Leu84=)
NM_025136.4(OPA3):c.252G>T (p.Leu84=)
NM_025136.4(OPA3):c.253G>C (p.Gly85Arg)
NM_025136.4(OPA3):c.254G>A (p.Gly85Asp) rs1599964721
NM_025136.4(OPA3):c.255C>G (p.Gly85=) rs951025429
NM_025136.4(OPA3):c.256G>A (p.Glu86Lys)
NM_025136.4(OPA3):c.25G>A (p.Ala9Thr)
NM_025136.4(OPA3):c.263C>T (p.Thr88Ile)
NM_025136.4(OPA3):c.265A>G (p.Ile89Val)
NM_025136.4(OPA3):c.273C>G (p.Ile91Met)
NM_025136.4(OPA3):c.273C>T (p.Ile91=) rs369545089
NM_025136.4(OPA3):c.274G>A (p.Val92Met) rs752893027
NM_025136.4(OPA3):c.275T>C (p.Val92Ala)
NM_025136.4(OPA3):c.277G>A (p.Gly93Ser) rs80356524
NM_025136.4(OPA3):c.279C>T (p.Gly93=) rs1165747962
NM_025136.4(OPA3):c.27G>A (p.Ala9=)
NM_025136.4(OPA3):c.280G>A (p.Gly94Ser)
NM_025136.4(OPA3):c.282C>A (p.Gly94=)
NM_025136.4(OPA3):c.282C>T (p.Gly94=) rs1478895044
NM_025136.4(OPA3):c.288C>T (p.Cys96=)
NM_025136.4(OPA3):c.289C>G (p.Leu97Val)
NM_025136.4(OPA3):c.289C>T (p.Leu97=) rs755295420
NM_025136.4(OPA3):c.291A>G (p.Leu97=) rs755689286
NM_025136.4(OPA3):c.293T>G (p.Val98Gly) rs967310075
NM_025136.4(OPA3):c.296T>G (p.Leu99Arg) rs1555732924
NM_025136.4(OPA3):c.29A>G (p.Lys10Arg)
NM_025136.4(OPA3):c.301T>C (p.Tyr101His) rs1969377552
NM_025136.4(OPA3):c.304T>G (p.Trp102Gly)
NM_025136.4(OPA3):c.308G>A (p.Arg103His)
NM_025136.4(OPA3):c.308_312del (p.Arg103fs)
NM_025136.4(OPA3):c.30G>A (p.Lys10=) rs1131692018
NM_025136.4(OPA3):c.30G>C (p.Lys10Asn)
NM_025136.4(OPA3):c.313C>A (p.Gln105Lys) rs80356525
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) rs80356525
NM_025136.4(OPA3):c.313C>T (p.Gln105Ter)
NM_025136.4(OPA3):c.316G>A (p.Ala106Thr)
NM_025136.4(OPA3):c.317C>T (p.Ala106Val) rs764633370
NM_025136.4(OPA3):c.318G>T (p.Ala106=) rs867188673
NM_025136.4(OPA3):c.31C>T (p.Leu11=)
NM_025136.4(OPA3):c.323A>G (p.Gln108Arg)
NM_025136.4(OPA3):c.327C>G (p.Arg109=) rs2122439641
NM_025136.4(OPA3):c.337G>A (p.Glu113Lys)
NM_025136.4(OPA3):c.33G>A (p.Leu11=) rs148805518
NM_025136.4(OPA3):c.342G>A (p.Glu114=)
NM_025136.4(OPA3):c.34C>G (p.Leu12Val)
NM_025136.4(OPA3):c.352G>C (p.Ala118Pro)
NM_025136.4(OPA3):c.360C>A (p.Asn120Lys)
NM_025136.4(OPA3):c.360C>T (p.Asn120=)
NM_025136.4(OPA3):c.362C>T (p.Ala121Val)
NM_025136.4(OPA3):c.363G>A (p.Ala121=) rs1371810069
NM_025136.4(OPA3):c.363G>C (p.Ala121=) rs1371810069
NM_025136.4(OPA3):c.363G>T (p.Ala121=) rs1371810069
NM_025136.4(OPA3):c.364C>T (p.Leu122=)
NM_025136.4(OPA3):c.367C>A (p.Arg123=) rs1022155897
NM_025136.4(OPA3):c.368_369delinsCT (p.Arg123Pro)
NM_025136.4(OPA3):c.373G>C (p.Glu125Gln)
NM_025136.4(OPA3):c.374A>T (p.Glu125Val)
NM_025136.4(OPA3):c.380G>A (p.Gly127Asp)
NM_025136.4(OPA3):c.383_385dup (p.His128_Leu129insHis)
NM_025136.4(OPA3):c.386T>A (p.Leu129Gln)
NM_025136.4(OPA3):c.389CGCTGG[1] (p.130AL[1])
NM_025136.4(OPA3):c.389CGCTGG[3] (p.Leu133_Glu134insAlaLeu)
NM_025136.4(OPA3):c.390G>A (p.Ala130=) rs2122439205
NM_025136.4(OPA3):c.392T>A (p.Leu131Gln)
NM_025136.4(OPA3):c.393G>A (p.Leu131=)
NM_025136.4(OPA3):c.395C>A (p.Ala132Glu) rs758982194
NM_025136.4(OPA3):c.395C>T (p.Ala132Val)
NM_025136.4(OPA3):c.397C>T (p.Leu133=) rs2122439146
NM_025136.4(OPA3):c.39C>G (p.Tyr13Ter)
NM_025136.4(OPA3):c.405G>A (p.Ala135=) rs750848548
NM_025136.4(OPA3):c.40T>C (p.Leu14=) rs2122529532
NM_025136.4(OPA3):c.40T>G (p.Leu14Val)
NM_025136.4(OPA3):c.410A>C (p.Gln137Pro) rs372161100
NM_025136.4(OPA3):c.414G>A (p.Ala138=) rs1969373306
NM_025136.4(OPA3):c.414G>T (p.Ala138=)
NM_025136.4(OPA3):c.417G>A (p.Gln139=) rs2122438987
NM_025136.4(OPA3):c.417G>C (p.Gln139His)
NM_025136.4(OPA3):c.423_424delinsCT (p.Gln141_Ala142delinsHisSer)
NM_025136.4(OPA3):c.424G>C (p.Ala142Pro) rs535683352
NM_025136.4(OPA3):c.425C>T (p.Ala142Val) rs2122438899
NM_025136.4(OPA3):c.427G>C (p.Ala143Pro)
NM_025136.4(OPA3):c.429G>A (p.Ala143=) rs745373208
NM_025136.4(OPA3):c.429_430delinsAA (p.Pro144Thr)
NM_025136.4(OPA3):c.431C>A (p.Pro144Gln) rs775398472
NM_025136.4(OPA3):c.431C>G (p.Pro144Arg)
NM_025136.4(OPA3):c.433C>T (p.Pro145Ser)
NM_025136.4(OPA3):c.434C>T (p.Pro145Leu)
NM_025136.4(OPA3):c.435A>G (p.Pro145=)
NM_025136.4(OPA3):c.436C>A (p.Gln146Lys)
NM_025136.4(OPA3):c.437A>G (p.Gln146Arg)
NM_025136.4(OPA3):c.439_440del (p.Gly147fs)
NM_025136.4(OPA3):c.442G>C (p.Ala148Pro)
NM_025136.4(OPA3):c.442G>T (p.Ala148Ser)
NM_025136.4(OPA3):c.443C>T (p.Ala148Val)
NM_025136.4(OPA3):c.444C>G (p.Ala148=) rs759536853
NM_025136.4(OPA3):c.445C>T (p.Leu149=) rs1057523113
NM_025136.4(OPA3):c.448G>C (p.Glu150Gln)
NM_025136.4(OPA3):c.455T>C (p.Leu152Pro)
NM_025136.4(OPA3):c.456G>A (p.Leu152=)
NM_025136.4(OPA3):c.456G>T (p.Leu152=)
NM_025136.4(OPA3):c.458G>T (p.Arg153Leu)
NM_025136.4(OPA3):c.45C>T (p.Gly15=)
NM_025136.4(OPA3):c.462A>C (p.Thr154=) rs2122438569
NM_025136.4(OPA3):c.462A>G (p.Thr154=)
NM_025136.4(OPA3):c.468G>C (p.Leu156=) rs2122438534
NM_025136.4(OPA3):c.469C>G (p.Gln157Glu)
NM_025136.4(OPA3):c.471A>G (p.Gln157=)
NM_025136.4(OPA3):c.472G>A (p.Glu158Lys)
NM_025136.4(OPA3):c.474G>A (p.Glu158=) rs1969371102
NM_025136.4(OPA3):c.477G>C (p.Val159=)
NM_025136.4(OPA3):c.477G>T (p.Val159=)
NM_025136.4(OPA3):c.483C>G (p.Ala161=) rs2122438328
NM_025136.4(OPA3):c.484C>G (p.Gln162Glu)
NM_025136.4(OPA3):c.484C>T (p.Gln162Ter)
NM_025136.4(OPA3):c.489C>T (p.Leu163=)
NM_025136.4(OPA3):c.494A>G (p.Asn165Ser)
NM_025136.4(OPA3):c.501C>T (p.Gly167=)
NM_025136.4(OPA3):c.502C>T (p.Arg168Trp) rs750946088
NM_025136.4(OPA3):c.504G>A (p.Arg168=)
NM_025136.4(OPA3):c.504G>T (p.Arg168=)
NM_025136.4(OPA3):c.507C>G (p.Ser169=) rs757829968
NM_025136.4(OPA3):c.513C>T (p.Ser171=)
NM_025136.4(OPA3):c.514C>T (p.His172Tyr) rs1293731096
NM_025136.4(OPA3):c.516C>T (p.His172=) rs1427115632
NM_025136.4(OPA3):c.517G>A (p.Ala173Thr)
NM_025136.4(OPA3):c.522G>A (p.Val174=) rs1969369481
NM_025136.4(OPA3):c.531C>T (p.Ser177=) rs2122437966
NM_025136.4(OPA3):c.532A>G (p.Lys178Glu) rs767372876
NM_025136.4(OPA3):c.55G>A (p.Val19Ile) rs1343690502
NM_025136.4(OPA3):c.57C>T (p.Val19=) rs1600010212
NM_025136.4(OPA3):c.66G>T (p.Pro22=) rs1969906893
NM_025136.4(OPA3):c.6G>A (p.Val2=) rs2122529689
NM_025136.4(OPA3):c.6G>C (p.Val2=) rs2122529689
NM_025136.4(OPA3):c.72C>T (p.Ala24=) rs1305459152
NM_025136.4(OPA3):c.73A>G (p.Asn25Asp)
NM_025136.4(OPA3):c.75C>T (p.Asn25=) rs2122529407
NM_025136.4(OPA3):c.77G>T (p.Arg26Leu) rs1302916174
NM_025136.4(OPA3):c.7G>C (p.Val3Leu)
NM_025136.4(OPA3):c.81del (p.Lys28fs)
NM_025136.4(OPA3):c.84G>A (p.Lys28=)
NM_025136.4(OPA3):c.87G>T (p.Glu29Asp) rs1194417590
NM_025136.4(OPA3):c.89C>T (p.Ala30Val)
NM_025136.4(OPA3):c.90C>A (p.Ala30=) rs1600010139
NM_025136.4(OPA3):c.91G>C (p.Ala31Pro)
NM_025136.4(OPA3):c.94C>T (p.Arg32Cys)
NM_025136.4(OPA3):c.99A>C (p.Arg33=)
NM_025136.4(OPA3):c.99A>G (p.Arg33=)
NM_032273.4(TMEM126A):c.-98C>G rs2082473214
NM_032273.4(TMEM126A):c.20A>G (p.Asn7Ser) rs768503384
NM_032273.4(TMEM126A):c.329G>A (p.Gly110Asp) rs374124838
NM_032273.4(TMEM126A):c.368T>C (p.Ile123Thr) rs999281366
NM_032273.4(TMEM126A):c.563C>A (p.Ser188Tyr) rs2082541296
NM_032730.5(RTN4IP1):c.-328G>T
NM_032730.5(RTN4IP1):c.104_117delinsGAAGGATT (p.Thr35_Arg39delinsArgArgIle) rs2114690778
NM_032730.5(RTN4IP1):c.275-1299T>C
NM_032730.5(RTN4IP1):c.2T>C (p.Met1Thr) rs2114691078
NM_032730.5(RTN4IP1):c.313C>T (p.Pro105Ser) rs1582392486
NM_032730.5(RTN4IP1):c.432G>A (p.Trp144Ter) rs755175825
NM_032730.5(RTN4IP1):c.475G>T (p.Val159Phe)
NM_032730.5(RTN4IP1):c.500C>T (p.Ser167Phe) rs2114677062
NM_032730.5(RTN4IP1):c.508C>T (p.Pro170Ser) rs2114677058
NM_032730.5(RTN4IP1):c.743G>T (p.Gly248Val)
NM_032730.5(RTN4IP1):c.962G>A (p.Gly321Glu) rs145695118
NM_130837.3(OPA1):c.*1610C>A rs73069785
NM_130837.3(OPA1):c.*2170A>G rs921945798
NM_130837.3(OPA1):c.*2234G>A rs1577422301
NM_130837.3(OPA1):c.*260G>T rs886058256
NM_130837.3(OPA1):c.*2692G>A rs886058261
NM_130837.3(OPA1):c.*2909A>T rs886058263
NM_130837.3(OPA1):c.*3147G>C rs886058264
NM_130837.3(OPA1):c.*427A>T rs565230692
NM_130837.3(OPA1):c.*560T>C rs7643844
NM_130837.3(OPA1):c.1017G>A (p.Thr339=) rs758922394
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) rs121908375
NM_130837.3(OPA1):c.1035+5G>A rs754576717
NM_130837.3(OPA1):c.1036-16_1111del
NM_130837.3(OPA1):c.1036G>C (p.Val346Leu) rs1553876590
NM_130837.3(OPA1):c.1049G>A (p.Gly350Glu)
NM_130837.3(OPA1):c.1051G>C (p.Asp351His) rs1577228080
NM_130837.3(OPA1):c.1053T>A (p.Asp351Glu)
NM_130837.3(OPA1):c.1064G>A (p.Gly355Glu) rs28939082
NM_130837.3(OPA1):c.1073G>A (p.Ser358Asn)
NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)
NM_130837.3(OPA1):c.1102_1103delinsGA (p.Ile368Glu)
NM_130837.3(OPA1):c.1111A>G (p.Arg371Gly)
NM_130837.3(OPA1):c.1118C>G (p.Ser373Cys) rs2109015193
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter) rs761460379
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg) rs398124303
NM_130837.3(OPA1):c.1149+1G>T
NM_130837.3(OPA1):c.1149+1_1149+5del
NM_130837.3(OPA1):c.1149+3A>T rs1733207545
NM_130837.3(OPA1):c.114_115insG (p.Ser39fs)
NM_130837.3(OPA1):c.1150-1G>A rs879255510
NM_130837.3(OPA1):c.1230+1G>T rs80356528
NM_130837.3(OPA1):c.1230+5G>A rs1057519244
NM_130837.3(OPA1):c.1232_1233dup (p.Ala412fs) rs863225275
NM_130837.3(OPA1):c.1241_1245del (p.Leu414fs)
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter) rs104893753
NM_130837.3(OPA1):c.1288T>G (p.Cys430Gly) rs1313421147
NM_130837.3(OPA1):c.1291A>G (p.Thr431Ala)
NM_130837.3(OPA1):c.1309dup (p.Ile437fs)
NM_130837.3(OPA1):c.1348G>A (p.Val450Met)
NM_130837.3(OPA1):c.1367G>A (p.Gly456Asp) rs863225276
NM_130837.3(OPA1):c.1377+1G>T rs2109043749
NM_130837.3(OPA1):c.1377+6T>A
NM_130837.3(OPA1):c.1454A>T (p.Asn485Ile) rs1577243012
NM_130837.3(OPA1):c.1458CAT[1] (p.Ile488del) rs879255511
NM_130837.3(OPA1):c.1459A>G (p.Ile487Val) rs387906899
NM_130837.3(OPA1):c.1475A>G (p.Gln492Arg) rs863225277
NM_130837.3(OPA1):c.1478A>G (p.Asp493Gly)
NM_130837.3(OPA1):c.1481G>T (p.Gly494Val) rs387906900
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_130837.3(OPA1):c.1511C>G (p.Thr504Arg) rs1577244261
NM_130837.3(OPA1):c.1511del (p.Thr504fs) rs794729196
NM_130837.3(OPA1):c.1519del (p.Val507fs) rs879255512
NM_130837.3(OPA1):c.1525C>T (p.Gln509Ter)
NM_130837.3(OPA1):c.1606_1608+10delinsCAGTCCACAAATCT
NM_130837.3(OPA1):c.164dup (p.Leu55fs) rs1728771454
NM_130837.3(OPA1):c.1681+1G>T rs886041318
NM_130837.3(OPA1):c.1720G>A (p.Glu574Lys) rs2109058910
NM_130837.3(OPA1):c.1728_1734del (p.Glu576fs) rs2109058985
NM_130837.3(OPA1):c.1734dup (p.Gln579fs) rs1560377736
NM_130837.3(OPA1):c.1737G>C (p.Gln579His) rs538099724
NM_130837.3(OPA1):c.1800C>G (p.Ser600Arg) rs398124298
NM_130837.3(OPA1):c.1817G>A (p.Cys606Tyr) rs879255592
NM_130837.3(OPA1):c.1821T>G (p.Phe607Leu)
NM_130837.3(OPA1):c.1839G>A (p.Glu613=) rs1734784679
NM_130837.3(OPA1):c.1846G>C (p.Glu616Gln) rs1157991384
NM_130837.3(OPA1):c.1852C>T (p.Gln618Ter)
NM_130837.3(OPA1):c.1870+1G>C
NM_130837.3(OPA1):c.1889A>T (p.Glu630Val)
NM_130837.3(OPA1):c.1890_1891del (p.Glu630fs) rs1711513680
NM_130837.3(OPA1):c.1910A>G (p.Tyr637Cys) rs121908376
NM_130837.3(OPA1):c.1935+1G>C rs1711518217
NM_130837.3(OPA1):c.1945_1948del (p.Phe649fs)
NM_130837.3(OPA1):c.2051C>G (p.Ser684Ter) rs2109138909
NM_130837.3(OPA1):c.2142del (p.Gln714fs) rs2109139435
NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del) rs755591067
NM_130837.3(OPA1):c.2287del (p.Ser763fs) rs1219753329
NM_130837.3(OPA1):c.2293A>T (p.Lys765Ter) rs772382178
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter) rs863224906
NM_130837.3(OPA1):c.22G>T (p.Ala8Ser) rs794726939
NM_130837.3(OPA1):c.2315_2316del (p.Phe772fs) rs1577297114
NM_130837.3(OPA1):c.2406del (p.Phe802fs) rs1553785025
NM_130837.3(OPA1):c.2524G>A (p.Val842Ile)
NM_130837.3(OPA1):c.2605del (p.Glu868_Ile869insTer)
NM_130837.3(OPA1):c.2661+1G>C
NM_130837.3(OPA1):c.267G>T (p.Trp89Cys) rs1728788655
NM_130837.3(OPA1):c.2686del (p.Tyr896fs) rs2109253558
NM_130837.3(OPA1):c.2714dup (p.Asn906fs)
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter) rs794727405
NM_130837.3(OPA1):c.2750dup (p.Tyr917Ter)
NM_130837.3(OPA1):c.2778+1G>A
NM_130837.3(OPA1):c.2779-9A>G rs1716524583
NM_130837.3(OPA1):c.2806del (p.Trp936fs)
NM_130837.3(OPA1):c.2819G>A (p.Arg940His)
NM_130837.3(OPA1):c.2853dup (p.Gln952fs)
NM_130837.3(OPA1):c.2869G>T (p.Glu957Ter)
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2894T>A (p.Val965Asp) rs387906901
NM_130837.3(OPA1):c.2973G>C (p.Ala991=) rs117475774
NM_130837.3(OPA1):c.2983+6T>A rs1577335678
NM_130837.3(OPA1):c.2987A>C (p.Lys996Thr) rs1721758840
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_130837.3(OPA1):c.2991del (p.Arg998fs) rs80356531
NM_130837.3(OPA1):c.2995G>T (p.Glu999Ter)
NM_130837.3(OPA1):c.3013_3014del (p.Asp1005fs) rs879255513
NM_130837.3(OPA1):c.357del (p.Phe119fs) rs1728905695
NM_130837.3(OPA1):c.365G>A (p.Trp122Ter)
NM_130837.3(OPA1):c.3G>A (p.Met1Ile) rs1724946838
NM_130837.3(OPA1):c.437A>G (p.Tyr146Cys)
NM_130837.3(OPA1):c.544T>C (p.Phe182Leu) rs769335936
NM_130837.3(OPA1):c.556+1G>A rs1577162868
NM_130837.3(OPA1):c.610+360G>A rs1553872542
NM_130837.3(OPA1):c.70dup (p.Ile24fs)
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) rs794727804
NM_130837.3(OPA1):c.868C>T (p.Arg290Ter) rs761743852
NM_130837.3(OPA1):c.880G>T (p.Glu294Ter)
NM_130837.3(OPA1):c.885C>G (p.Asn295Lys) rs750185470
NM_130837.3(OPA1):c.893T>A (p.Leu298Ter) rs863225274
NM_130837.3(OPA1):c.902T>G (p.Leu301Ter) rs1488795500
NM_130837.3(OPA1):c.970T>C (p.Ser324Pro) rs2109011385
NM_130837.3(OPA1):c.985G>A (p.Val329Ile) rs1347426414
NM_130837.3(OPA1):c.990C>T (p.Leu330=) rs201242590
NM_130837.3(OPA1):c.997T>G (p.Tyr333Asp)
NM_152296.5(ATP1A3):c.*247C>T rs565195548
NM_152296.5(ATP1A3):c.-130GACG[3] rs879996553
NM_152296.5(ATP1A3):c.1028G>A (p.Arg343Gln)
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp) rs1555863693
NM_152296.5(ATP1A3):c.1192+7G>A rs374826826
NM_152296.5(ATP1A3):c.1402G>T (p.Ala468Ser) rs2075231562
NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln) rs782583311
NM_152296.5(ATP1A3):c.1839G>C (p.Thr613=) rs376852509
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) rs782175860
NM_152296.5(ATP1A3):c.2146AAG[1] (p.Lys717del) rs1064795403
NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr) rs1135401822
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2312C>T (p.Thr771Ile) rs557939077
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.5(ATP1A3):c.2516T>C (p.Leu839Pro)
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala) rs1599705281
NM_152296.5(ATP1A3):c.2552A>G (p.Gln851Arg) rs2145946065
NM_152296.5(ATP1A3):c.265G>T (p.Gly89Cys)
NM_152296.5(ATP1A3):c.2749G>C (p.Val917Leu)
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152296.5(ATP1A3):c.2780G>A (p.Cys927Tyr) rs606231444
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp) rs398122887
NM_152296.5(ATP1A3):c.2843T>G (p.Leu948Arg)
NM_152296.5(ATP1A3):c.3019G>A (p.Val1007Met)
NM_152296.5(ATP1A3):c.460A>G (p.Met154Val) rs1135401821
NM_152296.5(ATP1A3):c.659A>T (p.Asp220Val)
NM_152296.5(ATP1A3):c.705T>G (p.Phe235Leu) rs782230953
NM_152296.5(ATP1A3):c.808G>A (p.Gly270Ser)
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=) rs782266448
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser) rs864309572
NM_152296.5(ATP1A3):c.971A>G (p.Glu324Gly) rs797044897
NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp) rs863224847
NM_173467.5(MCAT):c.424-2A>G
NM_173467.5(MCAT):c.823G>A (p.Glu275Lys)
NM_173467.5(MCAT):c.[242T>G;634C>T]
m.10663T>C rs1556423844
m.12848C>T rs267606899
m.14482C>G rs199476108
m.14495A>G rs199476106
m.14568C>T rs397515506
m.3376G>A rs397515612
m.3635G>A rs397515507
m.3700G>A rs397515508
m.3733G>A rs199476125
m.4171C>A rs28616230
m.5244G>A rs199476115

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