ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2613
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HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.110-17= rs62617809 0.99999
NM_001081.4(CUBN):c.8150C>G (p.Ser2717Trp) rs2796835 0.99996
NM_001081.4(CUBN):c.6485G>A (p.Cys2162Tyr) rs1276712 0.99748
NM_001081.4(CUBN):c.593+33dup rs11409967 0.95095
NM_001081.4(CUBN):c.594-34G>A rs2295813 0.91875
NM_001081.4(CUBN):c.123-16C>G rs2281648 0.87635
NM_001081.4(CUBN):c.2791+9C>T rs10795440 0.85809
NM_001081.4(CUBN):c.6463-22A>C rs1276713 0.83410
NM_025136.4(OPA3):c.*6790T>C rs10422253 0.76137
NM_001081.4(CUBN):c.7912+25T>C rs780807 0.76044
NM_001081.4(CUBN):c.10180+30A>G rs703062 0.75316
NM_001081.4(CUBN):c.4563T>A (p.Ile1521=) rs1801229 0.73095
NM_001081.4(CUBN):c.4675C>T (p.Pro1559Ser) rs1801231 0.73090
NM_001081.4(CUBN):c.758T>C (p.Phe253Ser) rs1801222 0.72079
NM_032861.4(SERAC1):c.249C>T (p.Asp83=) rs6929274 0.71772
NM_032861.4(SERAC1):c.129-34C>G rs6929520 0.71770
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_001081.4(CUBN):c.9843A>G (p.Thr3281=) rs703064 0.70381
NM_025136.4(OPA3):c.*1950G>A rs4404183 0.69999
NM_025136.4(OPA3):c.*3387G>A rs3760844 0.69742
NM_025136.4(OPA3):c.*4318T>C rs4802261 0.69665
NM_025136.4(OPA3):c.*152G>A rs3826861 0.66011
NM_001001563.5(TIMM50):c.108+21C>G rs2304221 0.62299
NM_001081.4(CUBN):c.1165C>A (p.Pro389Thr) rs1801224 0.57919
NM_025136.4(OPA3):c.*6012A>G rs11083772 0.57481
NM_001081.4(CUBN):c.5856A>G (p.Ser1952=) rs1801234 0.50897
NM_032861.4(SERAC1):c.355+11A>G rs9356399 0.42562
NM_001001563.5(TIMM50):c.597+38T>C rs1865094 0.37722
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225 0.34517
NM_001081.4(CUBN):c.*601A>G rs780635 0.33593
NM_025136.4(OPA3):c.*3874G>A rs62109650 0.21272
NM_001081.4(CUBN):c.939C>T (p.Asn313=) rs1801223 0.21191
NM_001001563.5(TIMM50):c.696+38G>A rs8112528 0.19648
NM_001081.4(CUBN):c.5343-8C>A rs2271463 0.19092
NM_001081.4(CUBN):c.6124+8C>T rs2271461 0.17332
NM_001081.4(CUBN):c.9030T>C (p.Ala3010=) rs1801241 0.16648
NM_025136.4(OPA3):c.*5523G>A rs57585727 0.13908
NM_001081.4(CUBN):c.4970-22A>C rs74668791 0.13460
NM_025136.4(OPA3):c.*638T>A rs150575877 0.13416
NM_001081.4(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305 0.13356
NM_001081.4(CUBN):c.9005A>G (p.Glu3002Gly) rs1801240 0.13166
NM_001081.4(CUBN):c.6459G>C (p.Leu2153Phe) rs62619939 0.12797
NM_001081.4(CUBN):c.*134G>A rs780636 0.12332
NM_001698.3(AUH):c.483A>C (p.Ile161=) rs7874056 0.11827
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_001258392.3(CLPB):c.840A>G (p.Glu280=) rs36049191 0.09452
NM_001081.4(CUBN):c.3522C>T (p.Gly1174=) rs1873469 0.09173
NM_025136.4(OPA3):c.*2485G>A rs8106584 0.08922
NM_025136.4(OPA3):c.*3722G>A rs73568973 0.08874
NM_001698.3(AUH):c.331-6G>A rs10991898 0.08502
NM_001081.4(CUBN):c.7662A>G (p.Pro2554=) rs3740165 0.08317
NM_001081.4(CUBN):c.2188C>T (p.His730Tyr) rs7905349 0.08051
NM_001081.4(CUBN):c.8950A>G (p.Ile2984Val) rs1801239 0.07706
NM_001081.4(CUBN):c.5518G>A (p.Gly1840Ser) rs2271462 0.07196
NM_001081.4(CUBN):c.5134C>T (p.Leu1712=) rs2271468 0.07161
NM_001081.4(CUBN):c.10295C>G (p.Thr3432Ser) rs7898873 0.06787
NM_025136.3(OPA3):c.-75G>A rs45598532 0.06189
NM_001081.4(CUBN):c.618C>T (p.Tyr206=) rs41289313 0.06126
NM_025136.4(OPA3):c.*577T>C rs112654759 0.06094
NM_025136.4(OPA3):c.*3878A>G rs79660166 0.06091
NM_001081.4(CUBN):c.1245T>C (p.Gly415=) rs12571671 0.05965
NM_001081.4(CUBN):c.5304C>T (p.Ile1768=) rs61841454 0.05795
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_001081.4(CUBN):c.7913-11A>G rs7088988 0.05036
NM_025136.3(OPA3):c.-86G>A rs73570932 0.04481
NM_025136.4(OPA3):c.*1387C>T rs73568986 0.04457
NM_032861.4(SERAC1):c.1016-11C>T rs41269577 0.04319
NM_025136.4(OPA3):c.*7015G>A rs112948303 0.04300
NM_001081.4(CUBN):c.109A>C (p.Ile37Leu) rs76788243 0.03753
NM_025136.4(OPA3):c.142+69G>C rs62111684 0.03152
NM_001081.4(CUBN):c.3417A>G (p.Leu1139=) rs1801228 0.02872
NM_032861.4(SERAC1):c.1403+12G>A rs117813106 0.02692
NM_001081.4(CUBN):c.8635C>A (p.Leu2879Ile) rs1801238 0.02483
NM_001081.4(CUBN):c.2791+14C>T rs111781659 0.02354
NM_001081.4(CUBN):c.196G>A (p.Gly66Arg) rs12259370 0.02267
NM_025136.4(OPA3):c.-38A>G rs45527139 0.02241
NM_025136.4(OPA3):c.*6394G>A rs151030695 0.02197
NM_032861.4(SERAC1):c.139T>A (p.Phe47Ile) rs112780453 0.02065
NM_001081.4(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168 0.02019
NM_001258392.3(CLPB):c.1860C>T (p.Arg620=) rs35401939 0.02006
NM_001081.4(CUBN):c.2791+6A>C rs78549445 0.01999
NM_001698.3(AUH):c.*107A>G rs75505223 0.01845
NM_013247.5(HTRA2):c.480C>G (p.Ala160=) rs2231248 0.01771
NM_001258392.3(CLPB):c.794G>C (p.Arg265Thr) rs7938203 0.01762
NM_001081.4(CUBN):c.2571C>T (p.Asn857=) rs17432826 0.01751
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_001081.4(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230 0.01713
NM_013247.5(HTRA2):c.421G>T (p.Ala141Ser) rs72470544 0.01709
NM_025136.4(OPA3):c.*3972C>T rs147972697 0.01701
NM_001081.4(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534 0.01626
NM_001081.4(CUBN):c.*305T>G rs143326344 0.01612
NM_025136.4(OPA3):c.*7085A>G rs67373144 0.01608
NM_001081.4(CUBN):c.*781C>T rs115080396 0.01607
NM_032861.4(SERAC1):c.1293G>A (p.Thr431=) rs73797641 0.01607
NM_001081.4(CUBN):c.5924C>T (p.Pro1975Leu) rs41289303 0.01542
NM_025136.4(OPA3):c.*6275T>C rs74689727 0.01461
NM_001081.4(CUBN):c.*93C>A rs111644764 0.01367
NM_001081.4(CUBN):c.9565A>G (p.Ile3189Val) rs111265129 0.01345
NM_001081.4(CUBN):c.*151G>A rs76742384 0.01235
NM_025136.4(OPA3):c.*1340C>T rs12104391 0.01224
NM_001001563.5(TIMM50):c.26C>G (p.Ser9Trp) rs35135520 0.01198
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_032861.4(SERAC1):c.89T>C (p.Ile30Thr) rs34270473 0.01029
NM_001081.4(CUBN):c.*45C>T rs7085076 0.01027
NM_000116.5(TAFAZZIN):c.-88G>C rs113130344 0.01021
NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val) rs45551835 0.01006
NM_025136.4(OPA3):c.*3222C>T rs73568980 0.00971
NM_001081.4(CUBN):c.4872C>T (p.Ile1624=) rs114958584 0.00910
NM_001081.4(CUBN):c.6561G>A (p.Ser2187=) rs11254278 0.00833
NM_025136.4(OPA3):c.*6294A>C rs114655581 0.00810
NM_001081.4(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460 0.00803
NM_001081.4(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947 0.00789
NM_001258392.3(CLPB):c.996G>A (p.Arg332=) rs146912721 0.00764
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn) rs138083522 0.00756
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=) rs17850540 0.00755
NM_001081.4(CUBN):c.6924A>T (p.Ser2308=) rs115303408 0.00727
NM_032861.4(SERAC1):c.1684+168T>C rs141960153 0.00719
NM_032861.4(SERAC1):c.1684+209T>C rs148162521 0.00718
NM_025136.4(OPA3):c.*4853T>A rs886054516 0.00709
NM_025136.4(OPA3):c.*1855T>C rs146599259 0.00697
NM_001081.4(CUBN):c.*872T>C rs116825641 0.00690
NM_001081.4(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483 0.00681
NM_025136.4(OPA3):c.*5905G>A rs116705343 0.00675
NM_025136.4(OPA3):c.*6767G>A rs142898530 0.00668
NM_001081.4(CUBN):c.*737T>C rs114039309 0.00648
NM_001081.4(CUBN):c.9491C>G (p.Ser3164Trp) rs57163243 0.00641
NM_001081.4(CUBN):c.963C>T (p.Pro321=) rs150309054 0.00617
NM_001698.3(AUH):c.77G>A (p.Cys26Tyr) rs74484860 0.00593
NM_025136.4(OPA3):c.*2696C>G rs148705681 0.00585
NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556 0.00569
NM_001081.4(CUBN):c.2445C>T (p.Val815=) rs116350428 0.00561
NM_001081.4(CUBN):c.3752G>C (p.Ser1251Thr) rs115048360 0.00561
NM_032861.4(SERAC1):c.739-10T>G rs118093738 0.00555
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241 0.00541
NM_025136.4(OPA3):c.*362T>C rs73942919 0.00539
NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284 0.00531
NM_025136.4(OPA3):c.*6442A>G rs76825983 0.00518
NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427 0.00513
NM_001081.4(CUBN):c.4696-16G>T rs140260072 0.00504
NM_001698.3(AUH):c.182C>A (p.Pro61His) rs181327211 0.00487
NM_001001563.5(TIMM50):c.598-15C>T rs45611439 0.00486
NM_025136.4(OPA3):c.*1642A>G rs144894771 0.00484
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732 0.00477
NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala) rs112524097 0.00471
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn) rs143097446 0.00471
NM_001081.4(CUBN):c.2756A>G (p.His919Arg) rs148869805 0.00464
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_001081.4(CUBN):c.2791+9_2791+16del rs375796983 0.00423
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=) rs116763934 0.00417
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met) rs114443105 0.00411
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=) rs116173262 0.00410
NM_001081.4(CUBN):c.1003G>A (p.Ala335Thr) rs57335729 0.00406
NM_001081.4(CUBN):c.7868A>C (p.Glu2623Ala) rs115449747 0.00403
NM_001698.3(AUH):c.927A>G (p.Glu309=) rs78739693 0.00399
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) rs146593010 0.00386
NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser) rs142581908 0.00371
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=) rs141937843 0.00363
NM_025136.4(OPA3):c.*2101A>T rs139606810 0.00363
NM_025136.4(OPA3):c.*6101A>G rs187296782 0.00363
NM_001081.4(CUBN):c.1794C>T (p.Tyr598=) rs140184467 0.00358
NM_001081.4(CUBN):c.6997A>G (p.Ile2333Val) rs149507036 0.00349
NM_001081.4(CUBN):c.*769G>A rs149618660 0.00335
NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp) rs141383303 0.00324
NM_025136.4(OPA3):c.*80G>T rs540023428 0.00315
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu) rs147194699 0.00309
NM_001081.4(CUBN):c.10267G>A (p.Val3423Ile) rs145872906 0.00305
NM_001081.4(CUBN):c.5680A>G (p.Ile1894Val) rs76789390 0.00304
NM_001017989.3(OPA3):c.143-16812G>A rs192699227 0.00300
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) rs142023670 0.00298
NM_001698.3(AUH):c.*200A>G rs113687423 0.00297
NM_001081.4(CUBN):c.2103A>G (p.Thr701=) rs143693723 0.00290
NM_025136.4(OPA3):c.*5944G>A rs190885103 0.00271
NM_001081.4(CUBN):c.5011A>C (p.Arg1671=) rs144472791 0.00255
NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys) rs138545198 0.00253
NM_032861.4(SERAC1):c.917G>A (p.Arg306Gln) rs114943513 0.00253
NM_030813.6(CLPB):c.661G>A (p.Gly221Ser) rs150552809 0.00247
NM_001081.4(CUBN):c.1470G>A (p.Pro490=) rs143255616 0.00243
NM_025136.4(OPA3):c.*6554G>A rs184177890 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_001081.4(CUBN):c.2182T>C (p.Phe728Leu) rs147752521 0.00217
NM_025136.4(OPA3):c.*5510G>A rs180756622 0.00213
NM_001081.4(CUBN):c.1530+12A>C rs138936163 0.00212
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230 0.00206
NM_025136.3(OPA3):c.-113T>C rs139731330 0.00185
NM_025136.4(OPA3):c.*422C>T rs116977551 0.00184
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn) rs147449194 0.00181
NM_001081.4(CUBN):c.7706-4T>C rs374979108 0.00180
NM_001258392.3(CLPB):c.349G>T (p.Ala117Ser) rs150248137 0.00170
NM_001081.4(CUBN):c.8968G>A (p.Val2990Ile) rs115888073 0.00169
NM_001081.4(CUBN):c.10119C>A (p.Val3373=) rs139596037 0.00168
NM_001081.4(CUBN):c.*436C>A rs574512019 0.00159
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=) rs150663813 0.00159
NM_001081.4(CUBN):c.910G>A (p.Glu304Lys) rs78201384 0.00159
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_001081.4(CUBN):c.5069C>T (p.Ala1690Val) rs141640975 0.00155
NM_001258392.3(CLPB):c.1796G>A (p.Arg599His) rs149463053 0.00151
NM_001081.4(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389 0.00150
NM_025136.4(OPA3):c.*5565C>T rs145816878 0.00149
NM_001258392.3(CLPB):c.1122+16T>C rs187846751 0.00147
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys) rs137978109 0.00135
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008 0.00133
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_001081.4(CUBN):c.349-8A>G rs188559699 0.00129
NM_025136.4(OPA3):c.*3884G>A rs187028696 0.00128
NM_001698.3(AUH):c.381A>G (p.Ile127Met) rs146227896 0.00125
NM_145261.4(DNAJC19):c.281-12T>C rs141982712 0.00123
NM_025136.4(OPA3):c.*2490C>T rs11671670 0.00117
NM_001698.3(AUH):c.*29G>A rs200499826 0.00116
NM_001081.4(CUBN):c.5967G>C (p.Val1989=) rs139153235 0.00111
NM_001698.3(AUH):c.135G>A (p.Ala45=) rs774989333 0.00111
NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser) rs116118397 0.00110
NM_001081.4(CUBN):c.7509G>A (p.Pro2503=) rs201001705 0.00105
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His) rs147330179 0.00104
NM_025136.4(OPA3):c.*6688G>A rs181576269 0.00102
NM_032861.4(SERAC1):c.1137A>G (p.Val379=) rs115846131 0.00100
NM_001258392.3(CLPB):c.212G>C (p.Gly71Ala) rs146099754 0.00096
NM_025136.4(OPA3):c.*2518A>G rs565012397 0.00096
NM_000116.5(TAFAZZIN):c.*560G>A rs782808430 0.00094
NM_025136.4(OPA3):c.*4949G>A rs544881797 0.00092
NM_025136.4(OPA3):c.*5357G>A rs549141863 0.00092
NM_001081.4(CUBN):c.10245C>T (p.Tyr3415=) rs147730705 0.00091
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=) rs140524729 0.00091
NM_001081.4(CUBN):c.3495C>T (p.Cys1165=) rs143531829 0.00090
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser) rs141164907 0.00089
NM_001258392.3(CLPB):c.1935C>T (p.Leu645=) rs138717332 0.00088
NM_025136.4(OPA3):c.*1238G>A rs187216413 0.00088
NM_001081.4(CUBN):c.10575C>T (p.Pro3525=) rs145569358 0.00086
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly) rs182512508 0.00086
NM_025136.4(OPA3):c.*677C>T rs560749495 0.00086
NM_025136.4(OPA3):c.*6436_*6437insG rs886054506 0.00085
NM_001081.4(CUBN):c.6821+2T>C rs150901286 0.00083
NM_001081.4(CUBN):c.7210+9A>G rs117711403 0.00081
NM_001081.4(CUBN):c.5733+16C>T rs139579256 0.00080
NM_025136.4(OPA3):c.249G>C (p.Leu83=) rs199692583 0.00080
NM_001081.4(CUBN):c.2110+18T>C rs117028815 0.00075
NM_001081.4(CUBN):c.10105A>G (p.Ser3369Gly) rs145023719 0.00070
NM_001081.4(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312 0.00070
NM_025136.4(OPA3):c.*3350T>G rs181719786 0.00070
NM_001698.3(AUH):c.140C>T (p.Pro47Leu) rs200564356 0.00068
NM_001081.4(CUBN):c.*782G>A rs570478432 0.00067
NM_001698.3(AUH):c.598+10A>C rs186203318 0.00066
NM_025136.4(OPA3):c.*698G>A rs561748985 0.00065
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe) rs140970422 0.00064
NM_001081.4(CUBN):c.8410+18T>C rs186604664 0.00059
NM_025136.4(OPA3):c.*742A>T rs979052921 0.00059
NM_025136.4(OPA3):c.*6674T>C rs534603782 0.00056
NM_001081.4(CUBN):c.2016G>A (p.Pro672=) rs148107237 0.00052
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr) rs144777839 0.00051
NM_025136.4(OPA3):c.*1614C>T rs185624158 0.00051
NM_001258392.3(CLPB):c.1560+11T>C rs113954132 0.00049
NM_001258392.3(CLPB):c.723C>T (p.His241=) rs368930954 0.00048
NM_025136.4(OPA3):c.*4846A>T rs1438623626 0.00048
NM_001081.4(CUBN):c.*734A>G rs751683958 0.00046
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val) rs144942416 0.00045
NM_032861.4(SERAC1):c.1404-3C>G rs367596327 0.00045
NM_001081.4(CUBN):c.3988C>T (p.His1330Tyr) rs149749419 0.00044
NM_001081.4(CUBN):c.7434C>T (p.Cys2478=) rs148976047 0.00044
NM_001258392.3(CLPB):c.455+8G>C rs200993434 0.00044
NM_001698.3(AUH):c.*432C>T rs746233646 0.00044
NM_145261.4(DNAJC19):c.300A>G (p.Ala100=) rs373886730 0.00044
NM_001081.4(CUBN):c.8139C>A (p.Thr2713=) rs147742103 0.00043
NM_032861.4(SERAC1):c.22G>A (p.Val8Ile) rs115387731 0.00043
NM_001081.4(CUBN):c.3252A>G (p.Gln1084=) rs142560894 0.00042
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640 0.00041
NM_001081.4(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113 0.00041
NM_001081.4(CUBN):c.671G>A (p.Arg224His) rs139891639 0.00041
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299 0.00041
NM_025136.4(OPA3):c.-7C>G rs199590627 0.00041
NM_001081.4(CUBN):c.9826+15G>A rs369467797 0.00040
NM_001258392.3(CLPB):c.159G>A (p.Gly53=) rs146260335 0.00040
NM_025136.4(OPA3):c.*1213C>T rs539298843 0.00040
NM_025136.4(OPA3):c.*7181G>A rs74253369 0.00040
NM_032861.4(SERAC1):c.1308+7G>A rs201873667 0.00040
NM_001258392.3(CLPB):c.1287C>T (p.Ala429=) rs143482511 0.00039
NM_001698.3(AUH):c.730G>A (p.Asp244Asn) rs202182817 0.00039
NM_001258392.3(CLPB):c.776-10_776-8del rs572621494 0.00037
NM_025136.4(OPA3):c.*6902G>A rs528812143 0.00037
NM_000116.5(TAFAZZIN):c.*396C>T rs144283894 0.00036
NM_001258392.3(CLPB):c.874-12C>G rs201936481 0.00036
NM_025136.4(OPA3):c.143-7C>T rs375551151 0.00036
NM_032861.4(SERAC1):c.1259T>C (p.Ile420Thr) rs114741005 0.00036
NM_032861.4(SERAC1):c.1659G>A (p.Ser553=) rs114493681 0.00036
NM_032861.4(SERAC1):c.1660T>G (p.Leu554Val) rs149034301 0.00036
NM_001081.4(CUBN):c.7533+17G>A rs374394291 0.00035
NM_001081.4(CUBN):c.6091A>G (p.Thr2031Ala) rs150392211 0.00034
NM_001081.4(CUBN):c.8671G>A (p.Val2891Ile) rs150488625 0.00034
NM_025136.4(OPA3):c.143-14C>T rs368939051 0.00034
NM_032861.4(SERAC1):c.91A>G (p.Arg31Gly) rs146896149 0.00034
NM_001081.4(CUBN):c.5429G>A (p.Arg1810Gln) rs149622438 0.00033
NM_001081.4(CUBN):c.4376C>G (p.Ser1459Cys) rs138022214 0.00032
NM_001081.4(CUBN):c.5424G>T (p.Val1808=) rs148649437 0.00032
NM_001258392.3(CLPB):c.404-16C>T rs371250603 0.00032
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile) rs146895312 0.00032
NM_001698.3(AUH):c.807G>A (p.Arg269=) rs145208407 0.00032
NM_001081.4(CUBN):c.3116A>G (p.Tyr1039Cys) rs150014503 0.00031
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu) rs144626884 0.00031
NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser) rs150985118 0.00031
NM_001081.4(CUBN):c.9705G>A (p.Thr3235=) rs370784621 0.00031
NM_001258392.3(CLPB):c.1164C>T (p.His388=) rs202009794 0.00031
NM_001258392.3(CLPB):c.1704G>A (p.Thr568=) rs141458508 0.00031
NM_001081.4(CUBN):c.4701C>T (p.Tyr1567=) rs113941731 0.00030
NM_001081.4(CUBN):c.7971A>G (p.Pro2657=) rs140160866 0.00030
NM_025136.4(OPA3):c.*1070C>T rs146989248 0.00030
NM_001081.4(CUBN):c.6263T>C (p.Phe2088Ser) rs74844886 0.00029
NM_001081.4(CUBN):c.814G>A (p.Gly272Arg) rs146035059 0.00029
NM_001258392.3(CLPB):c.619A>G (p.Lys207Glu) rs146588273 0.00029
NM_001258392.3(CLPB):c.646+6T>C rs374982363 0.00029
NM_001698.3(AUH):c.936T>C (p.Tyr312=) rs139628387 0.00029
NM_001081.4(CUBN):c.9664-9T>G rs145383974 0.00028
NM_025136.4(OPA3):c.*4372G>A rs573344031 0.00028
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala) rs145881708 0.00027
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430 0.00027
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu) rs191787640 0.00027
NM_001258392.3(CLPB):c.693C>T (p.Arg231=) rs149932193 0.00027
NM_025136.4(OPA3):c.*5660A>G rs935989223 0.00027
NM_032861.4(SERAC1):c.1828+10C>G rs374374755 0.00027
NM_001081.4(CUBN):c.1811C>T (p.Pro604Leu) rs200537125 0.00026
NM_001081.4(CUBN):c.2932C>A (p.His978Asn) rs369981313 0.00026
NM_001081.4(CUBN):c.4167C>T (p.Tyr1389=) rs150510291 0.00026
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu) rs143899993 0.00026
NM_001258392.3(CLPB):c.465A>G (p.Ser155=) rs138171096 0.00026
NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp) rs148534573 0.00026
NM_025136.4(OPA3):c.*1091C>G rs557691359 0.00026
NM_145261.4(DNAJC19):c.331G>C (p.Glu111Gln) rs370042988 0.00026
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_001698.3(AUH):c.791G>A (p.Gly264Glu) rs376821113 0.00024
NM_025136.4(OPA3):c.*2714C>T rs781539538 0.00024
NM_032861.4(SERAC1):c.1688C>G (p.Ser563Cys) rs146410859 0.00024
NM_001258392.3(CLPB):c.2024A>G (p.Asn675Ser) rs767062135 0.00023
NM_001017989.3(OPA3):c.486C>T (p.His162=) rs201078416 0.00022
NM_001081.4(CUBN):c.7491G>A (p.Leu2497=) rs189314395 0.00022
NM_001081.4(CUBN):c.8071G>A (p.Gly2691Arg) rs1801237 0.00022
NM_001698.3(AUH):c.464G>C (p.Gly155Ala) rs377491933 0.00022
NM_025136.4(OPA3):c.*6698G>T rs768694312 0.00022
NM_145261.4(DNAJC19):c.300del (p.Ala101fs) rs587777224 0.00022
NM_001081.4(CUBN):c.4702G>A (p.Asp1568Asn) rs533512333 0.00021
NM_001081.4(CUBN):c.813C>T (p.Pro271=) rs139348777 0.00021
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_001081.4(CUBN):c.9455-13T>C rs374390875 0.00021
NM_025136.4(OPA3):c.*3891C>T rs752997579 0.00021
NM_025136.4(OPA3):c.*5570C>T rs766783593 0.00021
NM_001258392.3(CLPB):c.189C>G (p.Phe63Leu) rs141970893 0.00020
NM_025136.4(OPA3):c.*5739C>T rs375835737 0.00020
NM_000116.5(TAFAZZIN):c.584-7del rs782192927 0.00019
NM_001081.4(CUBN):c.10038C>T (p.His3346=) rs113079734 0.00019
NM_001081.4(CUBN):c.10293C>T (p.His3431=) rs1266678482 0.00019
NM_001081.4(CUBN):c.388-3C>T rs367626184 0.00019
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_001081.4(CUBN):c.5926+5G>A rs143301088 0.00019
NM_001081.4(CUBN):c.6020C>T (p.Thr2007Met) rs140202552 0.00019
NM_001081.4(CUBN):c.6479A>G (p.Asp2160Gly) rs144704318 0.00019
NM_001081.4(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222 0.00019
NM_001081.4(CUBN):c.8412T>C (p.Gly2804=) rs139990077 0.00019
NM_001081.4(CUBN):c.9597C>T (p.Leu3199=) rs200457480 0.00019
NM_001258392.3(CLPB):c.1425C>T (p.His475=) rs756497518 0.00019
NM_001698.3(AUH):c.262+14G>A rs200386272 0.00019
NM_001698.3(AUH):c.330+13A>T rs374741033 0.00019
NM_025136.4(OPA3):c.*5013A>G rs780964248 0.00019
NM_025136.4(OPA3):c.*6072A>G rs576104602 0.00019
NM_001081.4(CUBN):c.349-9T>C rs375431948 0.00018
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp) rs142667203 0.00018
NM_001258392.3(CLPB):c.1429C>T (p.Leu477=) rs77345581 0.00018
NM_001258392.3(CLPB):c.966C>T (p.Ser322=) rs371562971 0.00018
NM_025136.4(OPA3):c.*3278C>T rs770317628 0.00018
NM_025136.4(OPA3):c.*5597C>T rs560019290 0.00018
NM_001081.4(CUBN):c.*940A>G rs560609264 0.00017
NM_001081.4(CUBN):c.3995A>G (p.Asn1332Ser) rs370803308 0.00017
NM_001081.4(CUBN):c.5796A>G (p.Glu1932=) rs376536525 0.00017
NM_001081.4(CUBN):c.7000+15A>T rs556690868 0.00017
NM_025136.4(OPA3):c.*5923G>A rs149788703 0.00017
NM_025136.4(OPA3):c.*6626G>A rs139757997 0.00017
NM_001017989.3(OPA3):c.416A>T (p.Gln139Leu) rs201888844 0.00016
NM_001081.4(CUBN):c.1604A>G (p.Tyr535Cys) rs139848689 0.00016
NM_001081.4(CUBN):c.2778T>G (p.Ser926Arg) rs371127860 0.00016
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=) rs200115233 0.00016
NM_001081.4(CUBN):c.6039C>T (p.Pro2013=) rs149569558 0.00016
NM_001081.4(CUBN):c.6260C>G (p.Ser2087Cys) rs376641725 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_145261.4(DNAJC19):c.182G>A (p.Arg61Gln) rs376891597 0.00016
NM_001081.4(CUBN):c.10076C>T (p.Ser3359Leu) rs140566726 0.00015
NM_001081.4(CUBN):c.427A>C (p.Asn143His) rs151018922 0.00015
NM_001081.4(CUBN):c.5130C>T (p.Ser1710=) rs750798030 0.00015
NM_001698.3(AUH):c.678C>T (p.Arg226=) rs143768042 0.00015
NM_013247.5(HTRA2):c.77G>A (p.Gly26Glu) rs145946172 0.00015
NM_025136.4(OPA3):c.*3442A>G rs138449967 0.00015
NM_001081.4(CUBN):c.*266C>T rs374059721 0.00014
NM_001081.4(CUBN):c.*560C>T rs45565931 0.00014
NM_001081.4(CUBN):c.-35G>C rs376502722 0.00014
NM_001081.4(CUBN):c.1112-12A>G rs762175932 0.00014
NM_001081.4(CUBN):c.1358C>A (p.Ser453Tyr) rs368630481 0.00014
NM_001081.4(CUBN):c.1450A>G (p.Ser484Gly) rs750735519 0.00014
NM_001081.4(CUBN):c.2138C>T (p.Thr713Met) rs141420691 0.00014
NM_001081.4(CUBN):c.2922C>T (p.Phe974=) rs201802902 0.00014
NM_001081.4(CUBN):c.8913C>T (p.Ser2971=) rs370685424 0.00014
NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu) rs143741363 0.00014
NM_001081.4(CUBN):c.9418G>A (p.Ala3140Thr) rs148491916 0.00014
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169 0.00014
NM_001258392.3(CLPB):c.135G>T (p.Pro45=) rs534420559 0.00014
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_030813.6(CLPB):c.671G>A (p.Arg224Gln) rs770932848 0.00014
NM_032861.4(SERAC1):c.1308+17C>A rs201126863 0.00014
NM_032861.4(SERAC1):c.1483A>C (p.Ile495Leu) rs370591885 0.00014
NM_032861.4(SERAC1):c.1538C>T (p.Thr513Met) rs143065058 0.00014
NM_145261.4(DNAJC19):c.3+16C>T rs367841424 0.00014
NM_001081.4(CUBN):c.4639C>T (p.Arg1547Cys) rs375920680 0.00013
NM_001081.4(CUBN):c.8680C>G (p.Pro2894Ala) rs377159715 0.00013
NM_032861.4(SERAC1):c.391T>C (p.Cys131Arg) rs147085187 0.00013
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys) rs375663114 0.00012
NM_001081.4(CUBN):c.1236T>C (p.Thr412=) rs201404467 0.00012
NM_001081.4(CUBN):c.2738G>C (p.Ser913Thr) rs201589187 0.00012
NM_001258392.3(CLPB):c.144G>A (p.Leu48=) rs557250186 0.00012
NM_001698.3(AUH):c.721C>T (p.Arg241Ter) rs200212229 0.00012
NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr) rs139051724 0.00011
NM_001081.4(CUBN):c.1926C>T (p.Asp642=) rs201938886 0.00011
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=) rs370581324 0.00011
NM_001081.4(CUBN):c.6278G>C (p.Gly2093Ala) rs748823977 0.00011
NM_001081.4(CUBN):c.6661G>A (p.Val2221Ile) rs143291127 0.00011
NM_001081.4(CUBN):c.8021G>A (p.Arg2674His) rs184746130 0.00011
NM_001081.4(CUBN):c.9267C>T (p.Thr3089=) rs200124646 0.00011
NM_001258392.3(CLPB):c.1476C>T (p.Ala492=) rs139236388 0.00011
NM_001258392.3(CLPB):c.690C>T (p.Asn230=) rs200517382 0.00011
NM_001698.3(AUH):c.926A>C (p.Glu309Ala) rs749713024 0.00011
NM_032861.4(SERAC1):c.128+8G>A rs766928057 0.00011
NM_032861.4(SERAC1):c.1404-11G>A rs371357530 0.00011
NM_032861.4(SERAC1):c.1413T>C (p.Ile471=) rs144641679 0.00011
NM_032861.4(SERAC1):c.552C>T (p.Ser184=) rs140671987 0.00011
NM_032861.4(SERAC1):c.711A>G (p.Glu237=) rs144125721 0.00011
NM_145261.4(DNAJC19):c.129+15A>C rs201697391 0.00011
NM_001017989.3(OPA3):c.415C>T (p.Gln139Ter) rs762180740 0.00010
NM_001081.4(CUBN):c.*786T>C rs886046853 0.00010
NM_001081.4(CUBN):c.10641G>A (p.Arg3547=) rs145909413 0.00010
NM_001081.4(CUBN):c.10759G>A (p.Gly3587Arg) rs201484266 0.00010
NM_001081.4(CUBN):c.516C>T (p.Asn172=) rs576450214 0.00010
NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp) rs1276708 0.00010
NM_001258392.3(CLPB):c.1865C>T (p.Thr622Met) rs544489365 0.00010
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly) rs146762466 0.00010
NM_001258392.3(CLPB):c.776-10C>G rs141271919 0.00010
NM_001698.3(AUH):c.*218_*219del rs1057515675 0.00010
NM_001698.3(AUH):c.679G>A (p.Ala227Thr) rs141700491 0.00010
NM_025136.4(OPA3):c.*5258A>G rs886054512 0.00010
NM_032861.4(SERAC1):c.1933C>T (p.Arg645Cys) rs114624250 0.00010
NM_001081.4(CUBN):c.10351G>A (p.Asp3451Asn) rs145661638 0.00009
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe) rs754645310 0.00009
NM_001081.4(CUBN):c.1111+5T>C rs199662739 0.00009
NM_001081.4(CUBN):c.2483G>A (p.Arg828His) rs199527884 0.00009
NM_001081.4(CUBN):c.2961C>T (p.Asn987=) rs148712017 0.00009
NM_001081.4(CUBN):c.536G>T (p.Gly179Val) rs370373276 0.00009
NM_001081.4(CUBN):c.5862G>A (p.Lys1954=) rs181991723 0.00009
NM_001081.4(CUBN):c.614C>T (p.Thr205Met) rs374652141 0.00009
NM_001081.4(CUBN):c.8825A>G (p.Asn2942Ser) rs766855509 0.00009
NM_001081.4(CUBN):c.9139A>G (p.Ile3047Val) rs376118603 0.00009
NM_001258392.3(CLPB):c.1710C>T (p.Leu570=) rs140958543 0.00009
NM_001258392.3(CLPB):c.1803G>A (p.Val601=) rs766600801 0.00009
NM_001698.3(AUH):c.*237G>A rs933932318 0.00009
NM_001698.3(AUH):c.20C>T (p.Ala7Val) rs863223911 0.00009
NM_001698.3(AUH):c.998C>T (p.Pro333Leu) rs541546111 0.00009
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_030813.6(CLPB):c.653G>C (p.Gly218Ala) rs377766896 0.00009
NM_030813.6(CLPB):c.736+2T>C rs201350869 0.00009
NM_032861.4(SERAC1):c.487+19C>T rs372997779 0.00009
NM_032861.4(SERAC1):c.583C>T (p.Pro195Ser) rs546374310 0.00009
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=) rs140751478 0.00008
NM_001017989.3(OPA3):c.406T>C (p.Leu136=) rs535476484 0.00008
NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser) rs200330356 0.00008
NM_001081.4(CUBN):c.10838G>A (p.Arg3613His) rs148626202 0.00008
NM_001081.4(CUBN):c.1234A>G (p.Thr412Ala) rs748933632 0.00008
NM_001081.4(CUBN):c.2446+11A>G rs372125740 0.00008
NM_001081.4(CUBN):c.4216G>A (p.Gly1406Arg) rs771763775 0.00008
NM_001081.4(CUBN):c.5073C>G (p.Pro1691=) rs200977290 0.00008
NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg) rs140883483 0.00008
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=) rs144942741 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_032861.4(SERAC1):c.1403+11C>T rs369586400 0.00008
NM_032861.4(SERAC1):c.418A>G (p.Ser140Gly) rs370340688 0.00008
NM_000116.5(TAFAZZIN):c.*618A>G rs781924638 0.00007
NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu) rs150358307 0.00007
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_001081.4(CUBN):c.1715A>T (p.His572Leu) rs368231433 0.00007
NM_001081.4(CUBN):c.4129C>T (p.Arg1377Cys) rs763563422 0.00007
NM_001081.4(CUBN):c.5397T>C (p.Arg1799=) rs147772422 0.00007
NM_001081.4(CUBN):c.5794G>C (p.Glu1932Gln) rs749462295 0.00007
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter) rs374538208 0.00007
NM_001081.4(CUBN):c.7797C>T (p.Cys2599=) rs138758085 0.00007
NM_001081.4(CUBN):c.7990C>G (p.Gln2664Glu) rs575118918 0.00007
NM_001081.4(CUBN):c.8301A>G (p.Ser2767=) rs377258631 0.00007
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys) rs148348845 0.00007
NM_001258392.3(CLPB):c.1218T>C (p.Gly406=) rs200323616 0.00007
NM_001258392.3(CLPB):c.370G>T (p.Val124Phe) rs139361195 0.00007
NM_001258392.3(CLPB):c.610A>G (p.Lys204Glu) rs538184539 0.00007
NM_001258392.3(CLPB):c.921C>T (p.Phe307=) rs561993207 0.00007
NM_025136.4(OPA3):c.*6361G>A rs1020767023 0.00007
NM_025136.4(OPA3):c.*821A>T rs886054536 0.00007
NM_145261.4(DNAJC19):c.*488G>C rs576646391 0.00007
NM_145261.4(DNAJC19):c.280+2dup rs756616792 0.00007
NM_000116.5(TAFAZZIN):c.567C>T (p.Phe189=) rs141773967 0.00006
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp) rs372689133 0.00006
NM_001081.4(CUBN):c.*298G>A rs529415832 0.00006
NM_001081.4(CUBN):c.*416G>A rs886046856 0.00006
NM_001081.4(CUBN):c.165G>A (p.Thr55=) rs370127775 0.00006
NM_001081.4(CUBN):c.2120G>A (p.Arg707His) rs763524933 0.00006
NM_001081.4(CUBN):c.2610A>G (p.Glu870=) rs143471343 0.00006
NM_001081.4(CUBN):c.348+10A>G rs373954000 0.00006
NM_001081.4(CUBN):c.5210-7C>G rs760324864 0.00006
NM_001081.4(CUBN):c.6187C>T (p.Arg2063Trp) rs781180388 0.00006
NM_001081.4(CUBN):c.7106G>T (p.Gly2369Val) rs200593316 0.00006
NM_001081.4(CUBN):c.735C>T (p.Cys245=) rs766772944 0.00006
NM_001081.4(CUBN):c.8056T>C (p.Phe2686Leu) rs755819982 0.00006
NM_001081.4(CUBN):c.879A>G (p.Pro293=) rs142466038 0.00006
NM_001081.4(CUBN):c.9298G>A (p.Asp3100Asn) rs202189846 0.00006
NM_001258392.3(CLPB):c.1140C>T (p.Asp380=) rs200950385 0.00006
NM_001258392.3(CLPB):c.1146C>T (p.Ser382=) rs377372785 0.00006
NM_001258392.3(CLPB):c.1247G>T (p.Cys416Phe) rs559592563 0.00006
NM_001258392.3(CLPB):c.1743C>T (p.Asp581=) rs147296630 0.00006
NM_001258392.3(CLPB):c.1866G>A (p.Thr622=) rs140281600 0.00006
NM_001258392.3(CLPB):c.1978C>T (p.Arg660Cys) rs140963713 0.00006
NM_001258392.3(CLPB):c.844A>G (p.Met282Val) rs773028492 0.00006
NM_001698.3(AUH):c.1004G>A (p.Arg335His) rs529693736 0.00006
NM_001698.3(AUH):c.656-8C>T rs199879150 0.00006
NM_001698.3(AUH):c.720G>A (p.Ala240=) rs780040124 0.00006
NM_001698.3(AUH):c.843+13A>G rs747375365 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_030813.6(CLPB):c.670C>T (p.Arg224Trp) rs149056885 0.00006
NM_030813.6(CLPB):c.735C>T (p.Gly245=) rs201151763 0.00006
NM_032861.4(SERAC1):c.1084A>T (p.Ile362Phe) rs537530231 0.00006
NM_032861.4(SERAC1):c.1159C>T (p.Arg387Ter) rs1220930025 0.00006
NM_145261.4(DNAJC19):c.210-7T>A rs779367415 0.00006
NM_145261.4(DNAJC19):c.280+5G>C rs762722601 0.00006
NM_000116.5(TAFAZZIN):c.110-6C>T rs782099193 0.00005
NM_001001563.5(TIMM50):c.1033C>T (p.Arg345Cys) rs137968278 0.00005
NM_001081.4(CUBN):c.*195T>C rs886046859 0.00005
NM_001081.4(CUBN):c.*470T>C rs886046855 0.00005
NM_001081.4(CUBN):c.10102A>G (p.Met3368Val) rs767333853 0.00005
NM_001081.4(CUBN):c.10235C>T (p.Pro3412Leu) rs556303931 0.00005
NM_001081.4(CUBN):c.113A>G (p.Asn38Ser) rs776471095 0.00005
NM_001081.4(CUBN):c.1230C>T (p.Ile410=) rs144627803 0.00005
NM_001081.4(CUBN):c.2476G>A (p.Val826Ile) rs141874896 0.00005
NM_001081.4(CUBN):c.4092C>G (p.Ser1364=) rs199763912 0.00005
NM_001081.4(CUBN):c.4420C>T (p.Pro1474Ser) rs201251467 0.00005
NM_001081.4(CUBN):c.4470C>T (p.Thr1490=) rs768720429 0.00005
NM_001081.4(CUBN):c.4797G>T (p.Leu1599Phe) rs201294291 0.00005
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940 0.00005
NM_001081.4(CUBN):c.5189C>T (p.Thr1730Met) rs201958183 0.00005
NM_001258392.3(CLPB):c.1362T>A (p.Ile454=) rs547364848 0.00005
NM_001258392.3(CLPB):c.1535A>T (p.Glu512Val) rs373383193 0.00005
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp) rs200299650 0.00005
NM_001258392.3(CLPB):c.1698C>T (p.Asn566=) rs199965220 0.00005
NM_001258392.3(CLPB):c.1994G>A (p.Arg665Gln) rs374538248 0.00005
NM_001258392.3(CLPB):c.582C>T (p.Asn194=) rs200063494 0.00005
NM_001258392.3(CLPB):c.651G>C (p.Leu217=) rs375214732 0.00005
NM_001698.3(AUH):c.158G>T (p.Gly53Val) rs747819278 0.00005
NM_001698.3(AUH):c.795C>T (p.Asp265=) rs761573002 0.00005
NM_001698.3(AUH):c.991A>T (p.Lys331Ter) rs387906757 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_030813.6(CLPB):c.660C>T (p.Asp220=) rs759358526 0.00005
NM_000116.5(TAFAZZIN):c.543G>A (p.Gly181=) rs782471244 0.00004
NM_000116.5(TAFAZZIN):c.583+10G>A rs370536414 0.00004
NM_000116.5(TAFAZZIN):c.584-7T>C rs397515745 0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_001017989.3(OPA3):c.421C>T (p.Gln141Ter) rs374175877 0.00004
NM_001081.3(CUBN):c.-50G>A rs370711661 0.00004
NM_001081.4(CUBN):c.*597A>C rs569828144 0.00004
NM_001081.4(CUBN):c.10327G>A (p.Glu3443Lys) rs776263089 0.00004
NM_001081.4(CUBN):c.10363-3A>G rs765943248 0.00004
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe) rs148313915 0.00004
NM_001081.4(CUBN):c.2013A>G (p.Pro671=) rs137892259 0.00004
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile) rs370770104 0.00004
NM_001081.4(CUBN):c.3672+20C>T rs762191994 0.00004
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn) rs150277370 0.00004
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val) rs1290241240 0.00004
NM_001081.4(CUBN):c.4621C>T (p.Arg1541Trp) rs146824506 0.00004
NM_001081.4(CUBN):c.5357A>C (p.Glu1786Ala) rs748558881 0.00004
NM_001081.4(CUBN):c.535G>A (p.Gly179Arg) rs772400701 0.00004
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val) rs946315516 0.00004
NM_001081.4(CUBN):c.5957A>T (p.Asp1986Val) rs772570411 0.00004
NM_001081.4(CUBN):c.5964C>T (p.Pro1988=) rs539618523 0.00004
NM_001081.4(CUBN):c.6462+19C>G rs372356491 0.00004
NM_001081.4(CUBN):c.6822-6C>T rs762758607 0.00004
NM_001081.4(CUBN):c.6849G>A (p.Arg2283=) rs373804380 0.00004
NM_001081.4(CUBN):c.7001-4G>A rs886046871 0.00004
NM_001081.4(CUBN):c.7976T>C (p.Val2659Ala) rs1007248288 0.00004
NM_001081.4(CUBN):c.8599-8C>T rs199774490 0.00004
NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys) rs142519035 0.00004
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile) rs201093611 0.00004
NM_001081.4(CUBN):c.9036G>A (p.Pro3012=) rs576867280 0.00004
NM_001081.4(CUBN):c.9442C>T (p.Arg3148Trp) rs749089689 0.00004
NM_001081.4(CUBN):c.9525G>A (p.Ser3175=) rs199499934 0.00004
NM_001081.4(CUBN):c.9714T>C (p.Gly3238=) rs141513734 0.00004
NM_001258392.3(CLPB):c.1236G>A (p.Lys412=) rs538912422 0.00004
NM_001258392.3(CLPB):c.1293dup (p.Asp432fs) rs774722200 0.00004
NM_001258392.3(CLPB):c.1605C>T (p.Ile535=) rs758906536 0.00004
NM_001258392.3(CLPB):c.1979G>A (p.Arg660His) rs758613799 0.00004
NM_001258392.3(CLPB):c.51C>A (p.Leu17=) rs371869002 0.00004
NM_001258392.3(CLPB):c.543-20_543-18del rs759265435 0.00004
NM_001258392.3(CLPB):c.628G>A (p.Gly210Arg) rs756161923 0.00004
NM_001258392.3(CLPB):c.646+7371C>T rs369768699 0.00004
NM_001258392.3(CLPB):c.896G>A (p.Arg299His) rs547532550 0.00004
NM_001698.3(AUH):c.117G>C (p.Ser39=) rs759828827 0.00004
NM_001698.3(AUH):c.330+9A>G rs145402420 0.00004
NM_001698.3(AUH):c.374G>A (p.Arg125Gln) rs137939308 0.00004
NM_001698.3(AUH):c.656-2_656-1del rs757748207 0.00004
NM_001698.3(AUH):c.824C>T (p.Ala275Val) rs748318386 0.00004
NM_001698.3(AUH):c.844-20T>C rs769924401 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_030813.6(CLPB):c.703G>T (p.Glu235Ter) rs374473067 0.00004
NM_030813.6(CLPB):c.715T>C (p.Trp239Arg) rs746357833 0.00004
NM_030943.4(AMN):c.208-2A>G rs386834170 0.00004
NM_032861.4(SERAC1):c.1152C>G (p.Pro384=) rs201331072 0.00004
NM_032861.4(SERAC1):c.1640G>A (p.Arg547His) rs756639108 0.00004
NM_032861.4(SERAC1):c.1763del (p.Val588fs) rs770661156 0.00004
NM_032861.4(SERAC1):c.355+10C>T rs760497677 0.00004
NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln) rs863224200 0.00004
NM_032861.4(SERAC1):c.524C>T (p.Pro175Leu) rs536508664 0.00004
NM_032861.4(SERAC1):c.553G>A (p.Glu185Lys) rs543967244 0.00004
NM_032861.4(SERAC1):c.660A>G (p.Gln220=) rs776026202 0.00004
NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly) rs375757326 0.00004
NM_032861.4(SERAC1):c.69T>G (p.Ser23Arg) rs754908475 0.00004
NM_032861.4(SERAC1):c.855A>G (p.Ile285Met) rs745441822 0.00004
NM_032861.4(SERAC1):c.92-16T>C rs201656768 0.00004
NM_032861.4(SERAC1):c.999T>C (p.Ser333=) rs746668292 0.00004
NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp) rs141007488 0.00004
NM_145261.4(DNAJC19):c.280+1G>A rs774006022 0.00004
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu) rs1223065368 0.00003
NM_000116.5(TAFAZZIN):c.321G>A (p.Glu107=) rs143525004 0.00003
NM_000116.5(TAFAZZIN):c.371-6C>A rs782195445 0.00003
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=) rs397515743 0.00003
NM_000116.5(TAFAZZIN):c.591G>T (p.Gly197=) rs150583937 0.00003
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu) rs375151766 0.00003
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln) rs782653725 0.00003
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606 0.00003
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) rs782498694 0.00003
NM_001017989.3(OPA3):c.217G>T (p.Glu73Ter) rs759861826 0.00003
NM_001081.4(CUBN):c.*15G>A rs751434522 0.00003
NM_001081.4(CUBN):c.*297C>T rs886046857 0.00003
NM_001081.4(CUBN):c.*373G>T rs780298022 0.00003
NM_001081.4(CUBN):c.*380T>C rs188873973 0.00003
NM_001081.4(CUBN):c.*669C>T rs992917155 0.00003
NM_001081.4(CUBN):c.*81C>A rs886046861 0.00003
NM_001081.4(CUBN):c.1653C>T (p.Ser551=) rs372499101 0.00003
NM_001081.4(CUBN):c.2318C>G (p.Thr773Ser) rs200658389 0.00003
NM_001081.4(CUBN):c.2452G>A (p.Gly818Arg) rs141274853 0.00003
NM_001081.4(CUBN):c.3745C>T (p.Arg1249Cys) rs368224687 0.00003
NM_001081.4(CUBN):c.387+13C>T rs766779196 0.00003
NM_001081.4(CUBN):c.5355G>A (p.Leu1785=) rs199509575 0.00003
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_001081.4(CUBN):c.6180G>A (p.Gly2060=) rs534571792 0.00003
NM_001081.4(CUBN):c.6277G>A (p.Gly2093Ser) rs759351780 0.00003
NM_001081.4(CUBN):c.6962G>T (p.Ser2321Ile) rs374628341 0.00003
NM_001081.4(CUBN):c.736G>A (p.Val246Ile) rs760990753 0.00003
NM_001081.4(CUBN):c.7403A>G (p.Tyr2468Cys) rs757744293 0.00003
NM_001081.4(CUBN):c.8016C>T (p.Asn2672=) rs151303316 0.00003
NM_001081.4(CUBN):c.8502G>A (p.Thr2834=) rs749545791 0.00003
NM_001081.4(CUBN):c.8921C>T (p.Thr2974Met) rs374477671 0.00003
NM_001081.4(CUBN):c.8971A>T (p.Met2991Leu) rs147160034 0.00003
NM_001258392.3(CLPB):c.105G>T (p.Arg35=) rs1336037926 0.00003
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460 0.00003
NM_001258392.3(CLPB):c.1571G>A (p.Arg524Gln) rs576652298 0.00003
NM_001258392.3(CLPB):c.1692G>T (p.Arg564Ser) rs778761751 0.00003
NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys) rs786205138 0.00003
NM_001258392.3(CLPB):c.1786-3C>T rs372126133 0.00003
NM_001258392.3(CLPB):c.246C>T (p.Cys82=) rs1004490311 0.00003
NM_001258392.3(CLPB):c.249C>T (p.Leu83=) rs200845330 0.00003
NM_001258392.3(CLPB):c.543-12G>C rs750871760 0.00003
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855 0.00003
NM_001258392.3(CLPB):c.890G>A (p.Arg297Gln) rs762784246 0.00003
NM_001258392.3(CLPB):c.934C>T (p.Arg312Ter) rs185461628 0.00003
NM_001258392.3(CLPB):c.990G>A (p.Ala330=) rs765172842 0.00003
NM_001698.3(AUH):c.506-9C>T rs537751591 0.00003
NM_001698.3(AUH):c.589C>T (p.Arg197Ter) rs121434636 0.00003
NM_001698.3(AUH):c.657G>A (p.Gly219=) rs141110052 0.00003
NM_001698.3(AUH):c.746A>G (p.Lys249Arg) rs752072326 0.00003
NM_001698.3(AUH):c.80del (p.Ser27fs) rs730880310 0.00003
NM_013247.5(HTRA2):c.618C>G (p.Val206=) rs186272815 0.00003
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.*2089T>C rs886054529 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_032861.4(SERAC1):c.1292C>T (p.Thr431Met) rs779852958 0.00003
NM_032861.4(SERAC1):c.1428C>T (p.Asn476=) rs774371194 0.00003
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) rs201941476 0.00003
NM_032861.4(SERAC1):c.1828+3A>G rs773193644 0.00003
NM_032861.4(SERAC1):c.329C>T (p.Ala110Val) rs368403843 0.00003
NM_145261.4(DNAJC19):c.59G>A (p.Arg20His) rs756192515 0.00003
NM_000116.5(TAFAZZIN):c.*33G>A rs782129745 0.00002
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=) rs368329470 0.00002
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu) rs397515737 0.00002
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys) rs794729166 0.00002
NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His) rs782196269 0.00002
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=) rs781986219 0.00002
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) rs200405157 0.00002
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=) rs782564325 0.00002
NM_000116.5(TAFAZZIN):c.407G>T (p.Gly136Val) rs782240044 0.00002
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val) rs782401618 0.00002
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=) rs990648341 0.00002
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile) rs782173851 0.00002
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp) rs781893396 0.00002
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys) rs926124671 0.00002
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly) rs782746355 0.00002
NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=) rs782716787 0.00002
NM_000116.5(TAFAZZIN):c.801G>A (p.Thr267=) rs781792950 0.00002
NM_001081.4(CUBN):c.*564G>C rs184284227 0.00002
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter) rs144484373 0.00002
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter) rs756614749 0.00002
NM_001081.4(CUBN):c.10853G>A (p.Arg3618Gln) rs780837561 0.00002
NM_001081.4(CUBN):c.3517A>G (p.Ser1173Gly) rs768104200 0.00002
NM_001081.4(CUBN):c.4375T>G (p.Ser1459Ala) rs886046875 0.00002
NM_001081.4(CUBN):c.4598A>G (p.Asn1533Ser) rs1025505410 0.00002
NM_001081.4(CUBN):c.4811G>T (p.Gly1604Val) rs751110627 0.00002
NM_001081.4(CUBN):c.483G>A (p.Gln161=) rs371508247 0.00002
NM_001081.4(CUBN):c.5758G>A (p.Ala1920Thr) rs770772474 0.00002
NM_001081.4(CUBN):c.5841C>T (p.Ser1947=) rs199868206 0.00002
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val) rs556462218 0.00002
NM_001081.4(CUBN):c.6282A>T (p.Gly2094=) rs576557890 0.00002
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177 0.00002
NM_001081.4(CUBN):c.8204A>C (p.Asp2735Ala) rs558369938 0.00002
NM_001081.4(CUBN):c.8254G>T (p.Gly2752Cys) rs747786939 0.00002
NM_001081.4(CUBN):c.8382T>C (p.Phe2794=) rs200808196 0.00002
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter) rs370038232 0.00002
NM_001081.4(CUBN):c.8831T>C (p.Met2944Thr) rs544783535 0.00002
NM_001258392.3(CLPB):c.1018G>A (p.Asp340Asn) rs893057489 0.00002
NM_001258392.3(CLPB):c.1292C>T (p.Pro431Leu) rs746582120 0.00002
NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys) rs369380599 0.00002
NM_001258392.3(CLPB):c.1463G>A (p.Arg488His) rs760399999 0.00002
NM_001258392.3(CLPB):c.1546C>T (p.Arg516Cys) rs748289105 0.00002
NM_001258392.3(CLPB):c.1718G>A (p.Arg573His) rs765245566 0.00002
NM_001258392.3(CLPB):c.1786-6C>T rs191389918 0.00002
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg) rs758376345 0.00002
NM_001258392.3(CLPB):c.266G>A (p.Gly89Glu) rs374729211 0.00002
NM_001258392.3(CLPB):c.299G>C (p.Gly100Ala) rs777039470 0.00002
NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser) rs549191970 0.00002
NM_001258392.3(CLPB):c.692G>A (p.Arg231His) rs772243585 0.00002
NM_001258392.3(CLPB):c.694G>A (p.Ala232Thr) rs779228307 0.00002
NM_001258392.3(CLPB):c.730G>C (p.Val244Leu) rs139268876 0.00002
NM_001258392.3(CLPB):c.73A>G (p.Thr25Ala) rs760759093 0.00002
NM_001258392.3(CLPB):c.819G>C (p.Leu273Phe) rs368150943 0.00002
NM_001258392.3(CLPB):c.914G>A (p.Arg305His) rs529206633 0.00002
NM_001698.3(AUH):c.198C>T (p.Gly66=) rs1268067238 0.00002
NM_001698.3(AUH):c.263-11C>T rs759369259 0.00002
NM_001698.3(AUH):c.505+1G>C rs773652620 0.00002
NM_001698.3(AUH):c.655+15C>T rs781269099 0.00002
NM_001698.3(AUH):c.655+7G>A rs748099966 0.00002
NM_001698.3(AUH):c.676C>T (p.Arg226Cys) rs148157596 0.00002
NM_001698.3(AUH):c.719C>T (p.Ala240Val) rs769894315 0.00002
NM_001698.3(AUH):c.722G>A (p.Arg241Gln) rs1269002301 0.00002
NM_001698.3(AUH):c.850G>A (p.Val284Ile) rs748245565 0.00002
NM_001698.3(AUH):c.943-6T>C rs778134028 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_030943.4(AMN):c.1324G>A (p.Val442Ile) rs760175392 0.00002
NM_032861.4(SERAC1):c.1270A>G (p.Met424Val) rs367903368 0.00002
NM_032861.4(SERAC1):c.1309-19T>G rs372001660 0.00002
NM_032861.4(SERAC1):c.1642T>C (p.Tyr548His) rs1331741437 0.00002
NM_032861.4(SERAC1):c.1684+7C>A rs765831183 0.00002
NM_032861.4(SERAC1):c.1846C>A (p.Leu616Ile) rs780572089 0.00002
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938 0.00002
NM_032861.4(SERAC1):c.266-11A>G rs574469098 0.00002
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236 0.00002
NM_032861.4(SERAC1):c.487+5T>C rs748641688 0.00002
NM_032861.4(SERAC1):c.932G>T (p.Cys311Phe) rs1449129513 0.00002
NM_145261.4(DNAJC19):c.129+6A>G rs192629594 0.00002
NM_145261.4(DNAJC19):c.1A>G (p.Met1Val) rs372756221 0.00002
NM_145261.4(DNAJC19):c.210-17T>C rs750700018 0.00002
NM_145261.4(DNAJC19):c.83A>G (p.His28Arg) rs776130966 0.00002
NM_145261.4(DNAJC19):c.90G>A (p.Glu30=) rs367996239 0.00002
NM_000116.5(TAFAZZIN):c.110-6C>G rs782099193 0.00001
NM_000116.5(TAFAZZIN):c.198G>A (p.Val66=) rs782470471 0.00001
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His) rs977521848 0.00001
NM_000116.5(TAFAZZIN):c.231T>C (p.His77=) rs782223969 0.00001
NM_000116.5(TAFAZZIN):c.238+11C>G rs1163786089 0.00001
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys) rs376769286 0.00001
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu) rs1557192022 0.00001
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile) rs727503454 0.00001
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val) rs2068413364 0.00001
NM_000116.5(TAFAZZIN):c.460+1G>A rs878853655 0.00001
NM_000116.5(TAFAZZIN):c.460+5G>A rs1325571965 0.00001
NM_000116.5(TAFAZZIN):c.461-16G>C rs782759146 0.00001
NM_000116.5(TAFAZZIN):c.465T>C (p.Asp155=) rs1603381303 0.00001
NM_000116.5(TAFAZZIN):c.507C>T (p.Leu169=) rs782498534 0.00001
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) rs397515744 0.00001
NM_000116.5(TAFAZZIN):c.54C>T (p.Thr18=) rs781846964 0.00001
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu) rs1557193924 0.00001
NM_000116.5(TAFAZZIN):c.593G>A (p.Arg198His) rs371236390 0.00001
NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=) rs587781186 0.00001
NM_000116.5(TAFAZZIN):c.660C>T (p.Val220=) rs372610945 0.00001
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790 0.00001
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His) rs782655300 0.00001
NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=) rs782123597 0.00001
NM_000116.5(TAFAZZIN):c.700-5C>T rs782731479 0.00001
NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=) rs1042313041 0.00001
NM_000116.5(TAFAZZIN):c.771G>A (p.Lys257=) rs368990588 0.00001
NM_000116.5(TAFAZZIN):c.774G>A (p.Ser258=) rs782273950 0.00001
NM_000116.5(TAFAZZIN):c.850C>T (p.Leu284Phe) rs782523340 0.00001
NM_001001563.5(TIMM50):c.340C>T (p.Arg114Trp) rs1300848445 0.00001
NM_001001563.5(TIMM50):c.341G>A (p.Arg114Gln) rs778355943 0.00001
NM_001001563.5(TIMM50):c.664G>A (p.Ala222Thr) rs1305711807 0.00001
NM_001001563.5(TIMM50):c.715C>T (p.Arg239Trp) rs1449758112 0.00001
NM_001001563.5(TIMM50):c.854-8G>C rs1166132682 0.00001
NM_001017989.3(OPA3):c.481G>A (p.Ala161Thr) rs1445523438 0.00001
NM_001017989.3(OPA3):c.534C>T (p.Ser178=) rs1162879805 0.00001
NM_001081.4(CUBN):c.*203C>T rs769041830 0.00001
NM_001081.4(CUBN):c.*281A>G rs886046858 0.00001
NM_001081.4(CUBN):c.*446A>G rs1315458918 0.00001
NM_001081.4(CUBN):c.-42G>T rs751905101 0.00001
NM_001081.4(CUBN):c.10012C>A (p.Gln3338Lys) rs755210947 0.00001
NM_001081.4(CUBN):c.10181-14A>G rs886046864 0.00001
NM_001081.4(CUBN):c.1022A>G (p.Gln341Arg) rs149517557 0.00001
NM_001081.4(CUBN):c.10238A>G (p.Asp3413Gly) rs760807440 0.00001
NM_001081.4(CUBN):c.10795T>C (p.Ser3599Pro) rs1177156381 0.00001
NM_001081.4(CUBN):c.1272G>T (p.Trp424Cys) rs563035840 0.00001
NM_001081.4(CUBN):c.1418-9C>A rs779016475 0.00001
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter) rs145818316 0.00001
NM_001081.4(CUBN):c.1644T>C (p.Phe548=) rs559998744 0.00001
NM_001081.4(CUBN):c.164C>T (p.Thr55Met) rs774556167 0.00001
NM_001081.4(CUBN):c.1704C>G (p.Leu568=) rs752698463 0.00001
NM_001081.4(CUBN):c.1865del (p.Thr622fs) rs386833771 0.00001
NM_001081.4(CUBN):c.2005T>C (p.Ser669Pro) rs751139014 0.00001
NM_001081.4(CUBN):c.2306G>A (p.Arg769Gln) rs770625165 0.00001
NM_001081.4(CUBN):c.2311G>A (p.Gly771Ser) rs866820343 0.00001
NM_001081.4(CUBN):c.2441A>G (p.Gln814Arg) rs770392464 0.00001
NM_001081.4(CUBN):c.2536A>G (p.Ile846Val) rs775423928 0.00001
NM_001081.4(CUBN):c.265A>C (p.Lys89Gln) rs755860454 0.00001
NM_001081.4(CUBN):c.2795G>A (p.Cys932Tyr) rs572470830 0.00001
NM_001081.4(CUBN):c.2822G>A (p.Gly941Glu) rs757185023 0.00001
NM_001081.4(CUBN):c.2997A>G (p.Thr999=) rs762336429 0.00001
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer) rs386833781 0.00001
NM_001081.4(CUBN):c.3101G>C (p.Gly1034Ala) rs778092585 0.00001
NM_001081.4(CUBN):c.3308A>G (p.Tyr1103Cys) rs760682560 0.00001
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln) rs1037514591 0.00001
NM_001081.4(CUBN):c.3944G>A (p.Gly1315Asp) rs773480436 0.00001
NM_001081.4(CUBN):c.4242C>T (p.Asn1414=) rs138052938 0.00001
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu) rs538984401 0.00001
NM_001081.4(CUBN):c.4959G>A (p.Ala1653=) rs577984421 0.00001
NM_001081.4(CUBN):c.5076C>T (p.Leu1692=) rs886046874 0.00001
NM_001081.4(CUBN):c.5131G>A (p.Ala1711Thr) rs768182223 0.00001
NM_001081.4(CUBN):c.5416C>A (p.His1806Asn) rs146438022 0.00001
NM_001081.4(CUBN):c.5469C>T (p.Ile1823=) rs754694753 0.00001
NM_001081.4(CUBN):c.5548A>T (p.Ile1850Leu) rs200277745 0.00001
NM_001081.4(CUBN):c.5982G>A (p.Pro1994=) rs560009723 0.00001
NM_001081.4(CUBN):c.6211A>G (p.Ile2071Val) rs567146793 0.00001
NM_001081.4(CUBN):c.6728C>T (p.Pro2243Leu) rs544059289 0.00001
NM_001081.4(CUBN):c.6729G>A (p.Pro2243=) rs757609735 0.00001
NM_001081.4(CUBN):c.6821+3A>G rs767078847 0.00001
NM_001081.4(CUBN):c.6847C>T (p.Arg2283Trp) rs150117913 0.00001
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter) rs1461982823 0.00001
NM_001081.4(CUBN):c.7069T>C (p.Tyr2357His) rs376122892 0.00001
NM_001081.4(CUBN):c.7070A>C (p.Tyr2357Ser) rs886046870 0.00001
NM_001081.4(CUBN):c.7084T>A (p.Phe2362Ile) rs757192279 0.00001
NM_001081.4(CUBN):c.7331G>A (p.Arg2444Gln) rs11254274 0.00001
NM_001081.4(CUBN):c.7363G>T (p.Asp2455Tyr) rs761577575 0.00001
NM_001081.4(CUBN):c.7378A>G (p.Ile2460Val) rs565917798 0.00001
NM_001081.4(CUBN):c.7533A>C (p.Ile2511=) rs748416223 0.00001
NM_001081.4(CUBN):c.8095G>A (p.Val2699Met) rs535261179 0.00001
NM_001081.4(CUBN):c.8222C>A (p.Thr2741Asn) rs771697506 0.00001
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter) rs759203841 0.00001
NM_001081.4(CUBN):c.8479G>A (p.Glu2827Lys) rs373893072 0.00001
NM_001081.4(CUBN):c.8566G>A (p.Gly2856Ser) rs371139445 0.00001
NM_001081.4(CUBN):c.8656G>A (p.Val2886Met) rs200235278 0.00001
NM_001081.4(CUBN):c.8908C>T (p.Arg2970Cys) rs562374248 0.00001
NM_001081.4(CUBN):c.8943C>T (p.Gly2981=) rs767131065 0.00001
NM_001081.4(CUBN):c.9037G>T (p.Val3013Phe) rs1241849194 0.00001
NM_001081.4(CUBN):c.9228C>T (p.Ile3076=) rs976401499 0.00001
NM_001081.4(CUBN):c.9297C>T (p.Tyr3099=) rs754292924 0.00001
NM_001081.4(CUBN):c.9527A>G (p.Asn3176Ser) rs750045664 0.00001
NM_001081.4(CUBN):c.9618G>A (p.Leu3206=) rs559567467 0.00001
NM_001258392.3(CLPB):c.1003G>A (p.Glu335Lys) rs765777645 0.00001
NM_001258392.3(CLPB):c.1067-4C>A rs1311832888 0.00001
NM_001258392.3(CLPB):c.1123-14T>C rs761493633 0.00001
NM_001258392.3(CLPB):c.1123-3C>T rs764474532 0.00001
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile) rs786205137 0.00001
NM_001258392.3(CLPB):c.1167+6T>C rs748976093 0.00001
NM_001258392.3(CLPB):c.1197C>T (p.Gly399=) rs1363666590 0.00001
NM_001258392.3(CLPB):c.1200C>T (p.Tyr400=) rs536717344 0.00001
NM_001258392.3(CLPB):c.1228A>G (p.Thr410Ala) rs1258428897 0.00001
NM_001258392.3(CLPB):c.1308C>G (p.Ile436Met) rs140355579 0.00001
NM_001258392.3(CLPB):c.130G>A (p.Glu44Lys) rs536485763 0.00001
NM_001258392.3(CLPB):c.1312C>T (p.Leu438=) rs539751194 0.00001
NM_001258392.3(CLPB):c.1361T>C (p.Ile454Thr) rs770073084 0.00001
NM_001258392.3(CLPB):c.1374C>T (p.Asp458=) rs776452795 0.00001
NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr) rs372344202 0.00001
NM_001258392.3(CLPB):c.1392C>G (p.Thr464=) rs1315933008 0.00001
NM_001258392.3(CLPB):c.1407C>T (p.Ser469=) rs747632383 0.00001
NM_001258392.3(CLPB):c.1408G>A (p.Asp470Asn) rs778269139 0.00001
NM_001258392.3(CLPB):c.1411G>A (p.Glu471Lys) rs748915609 0.00001
NM_001258392.3(CLPB):c.1428G>A (p.Ala476=) rs750997439 0.00001
NM_001258392.3(CLPB):c.1461C>T (p.Ser487=) rs752870447 0.00001
NM_001258392.3(CLPB):c.1468C>T (p.Arg490Cys) rs773040549 0.00001
NM_001258392.3(CLPB):c.1469G>A (p.Arg490His) rs568455218 0.00001
NM_001258392.3(CLPB):c.1477G>A (p.Glu493Lys) rs376835047 0.00001
NM_001258392.3(CLPB):c.1489G>T (p.Asp497Tyr) rs918777173 0.00001
NM_001258392.3(CLPB):c.1503T>G (p.Ser501Arg) rs571871217 0.00001
NM_001258392.3(CLPB):c.1542G>A (p.Val514=) rs935570035 0.00001
NM_001258392.3(CLPB):c.1581G>A (p.Glu527=) rs752634197 0.00001
NM_001258392.3(CLPB):c.1606G>A (p.Val536Ile) rs776356646 0.00001
NM_001258392.3(CLPB):c.1620C>T (p.Pro540=) rs200970392 0.00001
NM_001258392.3(CLPB):c.1631C>T (p.Ser544Leu) rs1430716011 0.00001
NM_001258392.3(CLPB):c.1672G>A (p.Ala558Thr) rs780169796 0.00001
NM_001258392.3(CLPB):c.1681-14C>T rs746122828 0.00001
NM_001258392.3(CLPB):c.1717C>T (p.Arg573Cys) rs186989806 0.00001
NM_001258392.3(CLPB):c.1740C>T (p.Val580=) rs759628306 0.00001
NM_001258392.3(CLPB):c.1741G>A (p.Asp581Asn) rs776835116 0.00001
NM_001258392.3(CLPB):c.1744G>A (p.Gly582Ser) rs747198658 0.00001
NM_001258392.3(CLPB):c.1765G>A (p.Ala589Thr) rs1949500581 0.00001
NM_001258392.3(CLPB):c.1777A>C (p.Lys593Gln) rs779976853 0.00001
NM_001258392.3(CLPB):c.1780C>T (p.His594Tyr) rs1442380307 0.00001
NM_001258392.3(CLPB):c.1785+7A>G rs745442561 0.00001
NM_001258392.3(CLPB):c.1785+8C>T rs1446394124 0.00001
NM_001258392.3(CLPB):c.1786-5G>A rs756715990 0.00001
NM_001258392.3(CLPB):c.1840C>G (p.Pro614Ala) rs1331493457 0.00001
NM_001258392.3(CLPB):c.1844G>T (p.Gly615Val) rs1247332355 0.00001
NM_001258392.3(CLPB):c.1937C>G (p.Pro646Arg) rs201668123 0.00001
NM_001258392.3(CLPB):c.1968C>T (p.Asp656=) rs757217501 0.00001
NM_001258392.3(CLPB):c.1969A>T (p.Ser657Cys) rs1254521420 0.00001
NM_001258392.3(CLPB):c.1995G>T (p.Arg665=) rs894319387 0.00001
NM_001258392.3(CLPB):c.229C>A (p.Arg77Ser) rs567785578 0.00001
NM_001258392.3(CLPB):c.247C>T (p.Leu83Phe) rs1590947700 0.00001
NM_001258392.3(CLPB):c.254C>T (p.Ala85Val) rs751423546 0.00001
NM_001258392.3(CLPB):c.259A>T (p.Thr87Ser) rs960976552 0.00001
NM_001258392.3(CLPB):c.261T>C (p.Thr87=) rs1427118335 0.00001
NM_001258392.3(CLPB):c.269G>A (p.Arg90His) rs762324677 0.00001
NM_001258392.3(CLPB):c.2T>C (p.Met1Thr) rs369149141 0.00001
NM_001258392.3(CLPB):c.312G>C (p.Trp104Cys) rs747589481 0.00001
NM_001258392.3(CLPB):c.356C>G (p.Ala119Gly) rs1191592329 0.00001
NM_001258392.3(CLPB):c.359C>G (p.Ala120Gly) rs1565107812 0.00001
NM_001258392.3(CLPB):c.367G>C (p.Val123Leu) rs141495575 0.00001
NM_001258392.3(CLPB):c.38C>T (p.Ala13Val) rs750927442 0.00001
NM_001258392.3(CLPB):c.39G>A (p.Ala13=) rs572605602 0.00001
NM_001258392.3(CLPB):c.409G>T (p.Ala137Ser) rs1323542690 0.00001
NM_001258392.3(CLPB):c.456-3T>A rs751918724 0.00001
NM_001258392.3(CLPB):c.531C>T (p.Asn177=) rs771786059 0.00001
NM_001258392.3(CLPB):c.532C>T (p.Arg178Ter) rs774185980 0.00001
NM_001258392.3(CLPB):c.57G>C (p.Arg19=) rs112362953 0.00001
NM_001258392.3(CLPB):c.58C>T (p.Leu20=) rs150558227 0.00001
NM_001258392.3(CLPB):c.638C>G (p.Ser213Cys) rs767714428 0.00001
NM_001258392.3(CLPB):c.646+13T>C rs370275901 0.00001
NM_001258392.3(CLPB):c.647-6C>T rs1377454533 0.00001
NM_001258392.3(CLPB):c.751A>G (p.Thr251Ala) rs754211386 0.00001
NM_001258392.3(CLPB):c.757A>G (p.Lys253Glu) rs766759416 0.00001
NM_001258392.3(CLPB):c.758A>G (p.Lys253Arg) rs761122843 0.00001
NM_001258392.3(CLPB):c.771T>C (p.Asp257=) rs143460015 0.00001
NM_001258392.3(CLPB):c.775+13G>A rs746972083 0.00001
NM_001258392.3(CLPB):c.776G>A (p.Gly259Glu) rs543347319 0.00001
NM_001258392.3(CLPB):c.817T>C (p.Leu273=) rs1950189871 0.00001
NM_001258392.3(CLPB):c.849G>A (p.Lys283=) rs759743960 0.00001
NM_001258392.3(CLPB):c.873+12G>A rs199805574 0.00001
NM_001258392.3(CLPB):c.910C>T (p.Arg304Trp) rs747344641 0.00001
NM_001258392.3(CLPB):c.916C>T (p.Arg306Cys) rs1199370784 0.00001
NM_001258392.3(CLPB):c.935G>A (p.Arg312Gln) rs751427024 0.00001
NM_001258392.3(CLPB):c.967G>A (p.Ala323Thr) rs759050719 0.00001
NM_001698.3(AUH):c.1003C>T (p.Arg335Cys) rs772918339 0.00001
NM_001698.3(AUH):c.222G>A (p.Glu74=) rs1587943178 0.00001
NM_001698.3(AUH):c.25C>G (p.Pro9Ala) rs1461159226 0.00001
NM_001698.3(AUH):c.263-2A>G rs730880311 0.00001
NM_001698.3(AUH):c.305C>T (p.Ser102Leu) rs368115216 0.00001
NM_001698.3(AUH):c.323T>C (p.Ile108Thr) rs531669666 0.00001
NM_001698.3(AUH):c.331-8C>T rs758271092 0.00001
NM_001698.3(AUH):c.476C>G (p.Ser159Cys) rs1282582845 0.00001
NM_001698.3(AUH):c.547G>A (p.Ala183Thr) rs548411527 0.00001
NM_001698.3(AUH):c.56G>T (p.Gly19Val) rs1832891431 0.00001
NM_001698.3(AUH):c.655+3A>C rs755914350 0.00001
NM_001698.3(AUH):c.656-2del rs780964098 0.00001
NM_001698.3(AUH):c.769G>A (p.Val257Ile) rs749920943 0.00001
NM_001698.3(AUH):c.797C>T (p.Ala266Val) rs570875104 0.00001
NM_001698.3(AUH):c.798G>A (p.Ala266=) rs760509061 0.00001
NM_001698.3(AUH):c.84G>T (p.Ala28=) rs1057515676 0.00001
NM_001698.3(AUH):c.860G>C (p.Arg287Thr) rs1826877739 0.00001
NM_001698.3(AUH):c.864G>A (p.Val288=) rs199569104 0.00001
NM_001698.3(AUH):c.894+9C>A rs1388023086 0.00001
NM_001698.3(AUH):c.898G>A (p.Asp300Asn) rs746215620 0.00001
NM_001698.3(AUH):c.943-2A>G rs730880312 0.00001
NM_013247.5(HTRA2):c.1211G>A (p.Arg404Gln) rs767006508 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.*4919_*4921del rs886054514 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.367C>T (p.Arg123Trp) rs1022155897 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_030813.6(CLPB):c.688T>C (p.Trp230Arg) rs749611577 0.00001
NM_030813.6(CLPB):c.690G>A (p.Trp230Ter) rs780554501 0.00001
NM_032861.4(SERAC1):c.1016-5A>G rs1321114507 0.00001
NM_032861.4(SERAC1):c.1102C>T (p.Arg368Ter) rs758745099 0.00001
NM_032861.4(SERAC1):c.1126C>T (p.Gln376Ter) rs199632531 0.00001
NM_032861.4(SERAC1):c.1169A>G (p.Gln390Arg) rs779061767 0.00001
NM_032861.4(SERAC1):c.1295C>T (p.Thr432Met) rs780982964 0.00001
NM_032861.4(SERAC1):c.1403+5C>G rs770722498 0.00001
NM_032861.4(SERAC1):c.1501+6T>G rs760987565 0.00001
NM_032861.4(SERAC1):c.1535C>T (p.Ser512Phe) rs751450632 0.00001
NM_032861.4(SERAC1):c.1537A>G (p.Thr513Ala) rs201367107 0.00001
NM_032861.4(SERAC1):c.1539G>A (p.Thr513=) rs1219406942 0.00001
NM_032861.4(SERAC1):c.1653C>T (p.Phe551=) rs1398045297 0.00001
NM_032861.4(SERAC1):c.1685-12A>G rs1327940001 0.00001
NM_032861.4(SERAC1):c.1685-3C>T rs367733861 0.00001
NM_032861.4(SERAC1):c.1725_1727dup (p.Glu575_Phe576insLeu) rs1478893955 0.00001
NM_032861.4(SERAC1):c.1762G>A (p.Val588Met) rs756012789 0.00001
NM_032861.4(SERAC1):c.1765G>A (p.Glu589Lys) rs1020569740 0.00001
NM_032861.4(SERAC1):c.1915C>T (p.Arg639Cys) rs575982148 0.00001
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs) rs797045105 0.00001
NM_032861.4(SERAC1):c.285A>G (p.Arg95=) rs752918334 0.00001
NM_032861.4(SERAC1):c.326C>T (p.Ser109Leu) rs1258024323 0.00001
NM_032861.4(SERAC1):c.387T>C (p.His129=) rs781658698 0.00001
NM_032861.4(SERAC1):c.487+12A>G rs531094036 0.00001
NM_032861.4(SERAC1):c.525G>A (p.Pro175=) rs774652383 0.00001
NM_032861.4(SERAC1):c.677G>T (p.Cys226Phe) rs1243289662 0.00001
NM_032861.4(SERAC1):c.738+7T>C rs1784954711 0.00001
NM_032861.4(SERAC1):c.87T>G (p.Asp29Glu) rs1404505029 0.00001
NM_032861.4(SERAC1):c.916C>T (p.Arg306Ter) rs780664696 0.00001
NM_032861.4(SERAC1):c.935C>T (p.Pro312Leu) rs1455975616 0.00001
NM_145261.4(DNAJC19):c.105A>G (p.Gln35=) rs1400868784 0.00001
NM_145261.4(DNAJC19):c.129+11G>T rs546533068 0.00001
NM_145261.4(DNAJC19):c.130-1G>C rs137854888 0.00001
NM_145261.4(DNAJC19):c.142G>A (p.Gly48Ser) rs781284254 0.00001
NM_145261.4(DNAJC19):c.167C>A (p.Pro56His) rs1714943164 0.00001
NM_145261.4(DNAJC19):c.202G>A (p.Gly68Ser) rs754317673 0.00001
NM_145261.4(DNAJC19):c.210-19C>T rs780397593 0.00001
NM_145261.4(DNAJC19):c.280+16A>T rs773185733 0.00001
NM_145261.4(DNAJC19):c.295A>G (p.Ile99Val) rs762783413 0.00001
NM_145261.4(DNAJC19):c.326T>C (p.Leu109Ser) rs200732155 0.00001
NM_145261.4(DNAJC19):c.344A>G (p.Lys115Arg) rs1253268997 0.00001
NM_145261.4(DNAJC19):c.348A>G (p.Lys116=) rs771098271 0.00001
NM_145261.4(DNAJC19):c.62dup (p.Tyr21Ter) rs1560040369 0.00001
GRCh37/hg19 6q25.3(chr6:158567861-158571603)
NC_000003.11:g.(?_180332709)_(180707390_?)del
NC_000003.11:g.(?_180707368)_(180707390_?)del
NC_000006.11:g.(?_158532398)_(162868359_?)del
NC_000009.11:g.(?_94058283)_(94538120_?)dup
NC_000009.11:g.(?_94118145)_(94118457_?)del
NC_000009.12:g.(?_91220785)_(91221012_?)del
NC_000009.12:g.91220993dup rs781142774
NC_000011.10:g.(?_72293347)_(72434494_?)del
NC_000011.10:g.(?_72372905)_(72380404_?)del
NC_000011.9:g.(?_71146421)_(75283128_?)dup
NC_000011.9:g.(?_72004411)_(72006712_?)del
NC_000011.9:g.(?_72083949)_(72084078_?)del
NC_000011.9:g.(?_72083996)_(72087051_?)del
NC_000011.9:g.(?_72141336)_(72145518_?)dup
NC_000011.9:g.(?_72145096)_(72145518_?)del
NC_000011.9:g.(?_72145398)_(72145517_?)del
NC_000011.9:g.(?_72145398)_(72150823_?)del
NC_000019.10:g.(?_45584613)_(45584774_?)del
NC_000019.10:g.39480831G>A rs1600735654
NC_000019.9:g.(46057170_46087880)_(46088123_?)del
NC_000023.10:g.(?_152014869)_(155171615_?)del
NC_000023.10:g.(?_153639844)_(153642537_?)del
NC_000023.10:g.(?_153640161)_(153649363_?)del
NC_000023.10:g.(?_153640161)_(153649363_?)dup
NC_000023.10:g.(?_153640181)_(153641904_?)del
NC_000023.10:g.(?_153640181)_(153775961_?)dup
NC_000023.10:g.(?_153641545)_(153648084_?)dup
NC_000023.10:g.(?_153647862)_(153649343_?)dup
NC_000023.10:g.(?_153647872)_(153650075_?)del
NC_012920.1:m.3243A>G rs199474657
NG_008017.1:g.?_(11043_41520)del
NM_000116.5(TAFAZZIN):c.*165T>A rs2068620449
NM_000116.5(TAFAZZIN):c.*387C>T rs1057515819
NM_000116.5(TAFAZZIN):c.*470= rs743547
NM_000116.5(TAFAZZIN):c.*648A>C rs1413243483
NM_000116.5(TAFAZZIN):c.100T>A (p.Phe34Ile)
NM_000116.5(TAFAZZIN):c.102C>T (p.Phe34=)
NM_000116.5(TAFAZZIN):c.109+15G>A
NM_000116.5(TAFAZZIN):c.109+15del
NM_000116.5(TAFAZZIN):c.109+20G>A
NM_000116.5(TAFAZZIN):c.109+5G>A rs2148185111
NM_000116.5(TAFAZZIN):c.109+5G>C rs2148185111
NM_000116.5(TAFAZZIN):c.109+8G>A rs2068315794
NM_000116.5(TAFAZZIN):c.110-15C>G
NM_000116.5(TAFAZZIN):c.110-18C>T
NM_000116.5(TAFAZZIN):c.110-19A>C
NM_000116.5(TAFAZZIN):c.110-20G>T
NM_000116.5(TAFAZZIN):c.110-2A>G rs1603376833
NM_000116.5(TAFAZZIN):c.113A>G (p.Tyr38Cys)
NM_000116.5(TAFAZZIN):c.117G>A (p.Met39Ile)
NM_000116.5(TAFAZZIN):c.124del (p.His41_Leu42insTer)
NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser)
NM_000116.5(TAFAZZIN):c.129C>A (p.Thr43=)
NM_000116.5(TAFAZZIN):c.129C>G (p.Thr43=)
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs) rs2148186224
NM_000116.5(TAFAZZIN):c.132G>A (p.Val44=)
NM_000116.5(TAFAZZIN):c.138C>T (p.Asn46=)
NM_000116.5(TAFAZZIN):c.145G>C (p.Val49Leu)
NM_000116.5(TAFAZZIN):c.149T>A (p.Leu50Gln)
NM_000116.5(TAFAZZIN):c.149T>C (p.Leu50Pro)
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAFAZZIN):c.154G>C (p.Glu52Gln)
NM_000116.5(TAFAZZIN):c.161T>A (p.Ile54Asn)
NM_000116.5(TAFAZZIN):c.162C>G (p.Ile54Met)
NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter)
NM_000116.5(TAFAZZIN):c.171del (p.Gly58fs)
NM_000116.5(TAFAZZIN):c.179C>T (p.Ala60Val)
NM_000116.5(TAFAZZIN):c.182C>T (p.Thr61Met)
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser) rs2068328744
NM_000116.5(TAFAZZIN):c.186C>G (p.Pro62=)
NM_000116.5(TAFAZZIN):c.189C>T (p.Leu63=)
NM_000116.5(TAFAZZIN):c.18G>T (p.Lys6Asn)
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu) rs1322365208
NM_000116.5(TAFAZZIN):c.1A>G (p.Met1Val)
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn) rs2068329796
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter) rs397515738
NM_000116.5(TAFAZZIN):c.211T>C (p.Ser71Pro)
NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe) rs2068330347
NM_000116.5(TAFAZZIN):c.215G>T (p.Cys72Phe)
NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=) rs1557191148
NM_000116.5(TAFAZZIN):c.222C>A (p.Asp74Glu)
NM_000116.5(TAFAZZIN):c.222C>G (p.Asp74Glu)
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg) rs878853654
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu) rs878853654
NM_000116.5(TAFAZZIN):c.228T>G (p.Pro76=)
NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg) rs794729173
NM_000116.5(TAFAZZIN):c.233T>A (p.Leu78His)
NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter)
NM_000116.5(TAFAZZIN):c.236_238+5del rs2068331233
NM_000116.5(TAFAZZIN):c.238+10C>A
NM_000116.5(TAFAZZIN):c.238+1del
NM_000116.5(TAFAZZIN):c.238+2T>G
NM_000116.5(TAFAZZIN):c.238+2_238+9del rs1603376938
NM_000116.5(TAFAZZIN):c.238+6C>T rs781786197
NM_000116.5(TAFAZZIN):c.238+7G>A
NM_000116.5(TAFAZZIN):c.238+9G>C
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.239-11C>T
NM_000116.5(TAFAZZIN):c.239-17C>G
NM_000116.5(TAFAZZIN):c.239-17C>T
NM_000116.5(TAFAZZIN):c.239-18G>A
NM_000116.5(TAFAZZIN):c.239-19A>G
NM_000116.5(TAFAZZIN):c.239-1G>A rs1603377590
NM_000116.5(TAFAZZIN):c.239-1G>C rs1603377590
NM_000116.5(TAFAZZIN):c.239-6C>T
NM_000116.5(TAFAZZIN):c.239-6del rs1064794479
NM_000116.5(TAFAZZIN):c.239-7C>T rs2148190472
NM_000116.5(TAFAZZIN):c.245T>C (p.Leu82Pro)
NM_000116.5(TAFAZZIN):c.24G>T (p.Pro8=)
NM_000116.5(TAFAZZIN):c.250C>T (p.Leu84Phe)
NM_000116.5(TAFAZZIN):c.252C>T (p.Leu84=)
NM_000116.5(TAFAZZIN):c.255C>T (p.Arg85=)
NM_000116.5(TAFAZZIN):c.258C>T (p.His86=)
NM_000116.5(TAFAZZIN):c.267C>T (p.Asn89=)
NM_000116.5(TAFAZZIN):c.273G>A (p.Lys91=)
NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser) rs104894942
NM_000116.5(TAFAZZIN):c.280C>G (p.Arg94Gly)
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys) rs104894942
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAFAZZIN):c.284+110G>A rs1603377747
NM_000116.5(TAFAZZIN):c.284+17C>T
NM_000116.5(TAFAZZIN):c.284+3G>C rs1569552708
NM_000116.5(TAFAZZIN):c.284+4A>T rs1603377638
NM_000116.5(TAFAZZIN):c.284+5G>A
NM_000116.5(TAFAZZIN):c.284+8_284+10del
NM_000116.5(TAFAZZIN):c.285-14C>T
NM_000116.5(TAFAZZIN):c.285-5C>T
NM_000116.5(TAFAZZIN):c.285G>A (p.Trp95Ter)
NM_000116.5(TAFAZZIN):c.28C>T (p.Pro10Ser)
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer) rs2148191858
NM_000116.5(TAFAZZIN):c.294A>T (p.Ala98=) rs2148191873
NM_000116.5(TAFAZZIN):c.294delinsTTAAGGACCCCT (p.Ala98_Ala99insTer)
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val) rs1569552722
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000116.5(TAFAZZIN):c.302A>T (p.Asp101Val)
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg) rs397515740
NM_000116.5(TAFAZZIN):c.308G>A (p.Cys103Tyr)
NM_000116.5(TAFAZZIN):c.30C>T (p.Pro10=)
NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu) rs397515741
NM_000116.5(TAFAZZIN):c.310T>G (p.Phe104Val)
NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile)
NM_000116.5(TAFAZZIN):c.322C>A (p.Leu108Ile)
NM_000116.5(TAFAZZIN):c.322C>T (p.Leu108=)
NM_000116.5(TAFAZZIN):c.327C>T (p.His109=) rs1569552726
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.329_334del (p.Ser110_His111del)
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu) rs1281729528
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.348C>G (p.Gly116=)
NM_000116.5(TAFAZZIN):c.349A>G (p.Lys117Glu)
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg) rs104894937
NM_000116.5(TAFAZZIN):c.360T>C (p.Pro120=)
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter) rs1569552731
NM_000116.5(TAFAZZIN):c.368G>C (p.Arg123Pro)
NM_000116.5(TAFAZZIN):c.370+11C>T
NM_000116.5(TAFAZZIN):c.370+12del
NM_000116.5(TAFAZZIN):c.370+16A>G
NM_000116.5(TAFAZZIN):c.370+18C>T
NM_000116.5(TAFAZZIN):c.370+19G>A
NM_000116.5(TAFAZZIN):c.370+2T>A
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.370G>C (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter) rs1603377945
NM_000116.5(TAFAZZIN):c.371-13C>G rs397515742
NM_000116.5(TAFAZZIN):c.371-17T>C
NM_000116.5(TAFAZZIN):c.371-19A>T
NM_000116.5(TAFAZZIN):c.371-4G>A
NM_000116.5(TAFAZZIN):c.371G>A (p.Gly124Glu)
NM_000116.5(TAFAZZIN):c.379T>G (p.Phe127Val)
NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser)
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys) rs2068411768
NM_000116.5(TAFAZZIN):c.385C>T (p.Gln129Ter)
NM_000116.5(TAFAZZIN):c.394A>T (p.Asn132Tyr)
NM_000116.5(TAFAZZIN):c.39G>T (p.Pro13=)
NM_000116.5(TAFAZZIN):c.3G>A (p.Met1Ile)
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile) rs2068412679
NM_000116.5(TAFAZZIN):c.412C>G (p.Leu138Val)
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val) rs1603378339
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs) rs782253789
NM_000116.5(TAFAZZIN):c.429C>G (p.His143Gln)
NM_000116.5(TAFAZZIN):c.42G>T (p.Pro14=)
NM_000116.5(TAFAZZIN):c.45C>T (p.Leu15=)
NM_000116.5(TAFAZZIN):c.460+10G>A
NM_000116.5(TAFAZZIN):c.460+10G>T
NM_000116.5(TAFAZZIN):c.460+17G>A
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg) rs2068414496
NM_000116.5(TAFAZZIN):c.461-10_461-5del
NM_000116.5(TAFAZZIN):c.461-13C>A
NM_000116.5(TAFAZZIN):c.461-14C>A
NM_000116.5(TAFAZZIN):c.461-15G>A
NM_000116.5(TAFAZZIN):c.461-18G>A
NM_000116.5(TAFAZZIN):c.461-19A>G
NM_000116.5(TAFAZZIN):c.461-22_461-14del
NM_000116.5(TAFAZZIN):c.461-2A>G rs876661038
NM_000116.5(TAFAZZIN):c.461-3C>A
NM_000116.5(TAFAZZIN):c.461-7C>T
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser) rs1227132566
NM_000116.5(TAFAZZIN):c.481G>A (p.Gly161Arg)
NM_000116.5(TAFAZZIN):c.483G>A (p.Gly161=) rs2148210856
NM_000116.5(TAFAZZIN):c.496T>C (p.Leu166=)
NM_000116.5(TAFAZZIN):c.497T>A (p.Leu166Ter)
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg) rs2068313278
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAFAZZIN):c.510C>T (p.Asn170=)
NM_000116.5(TAFAZZIN):c.517G>A (p.Asp173Asn)
NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)
NM_000116.5(TAFAZZIN):c.51G>A (p.Trp17Ter)
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys) rs1603376560
NM_000116.5(TAFAZZIN):c.524T>G (p.Val175Gly)
NM_000116.5(TAFAZZIN):c.528_541+7del rs2068570435
NM_000116.5(TAFAZZIN):c.533T>C (p.Phe178Ser)
NM_000116.5(TAFAZZIN):c.534C>T (p.Phe178=)
NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs)
NM_000116.5(TAFAZZIN):c.53C>T (p.Thr18Ile)
NM_000116.5(TAFAZZIN):c.541+10G>A rs1396794207
NM_000116.5(TAFAZZIN):c.541+13G>A
NM_000116.5(TAFAZZIN):c.541+13_541+28del
NM_000116.5(TAFAZZIN):c.541+1G>T
NM_000116.5(TAFAZZIN):c.541+20_541+40dup
NM_000116.5(TAFAZZIN):c.541+5G>A rs2068571041
NM_000116.5(TAFAZZIN):c.541+8G>A
NM_000116.5(TAFAZZIN):c.541G>A (p.Gly181Arg)
NM_000116.5(TAFAZZIN):c.542-2A>G rs2068574381
NM_000116.5(TAFAZZIN):c.542-3C>G rs781795144
NM_000116.5(TAFAZZIN):c.542-3C>T
NM_000116.5(TAFAZZIN):c.542-6C>T
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu) rs2068574531
NM_000116.5(TAFAZZIN):c.549G>T (p.Val183=)
NM_000116.5(TAFAZZIN):c.54_55del (p.Leu19fs)
NM_000116.5(TAFAZZIN):c.552C>T (p.Asn184=)
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
NM_000116.5(TAFAZZIN):c.561C>T (p.Ser187=) rs36005334
NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter)
NM_000116.5(TAFAZZIN):c.572G>C (p.Arg191Pro)
NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs)
NM_000116.5(TAFAZZIN):c.578A>T (p.Lys193Met)
NM_000116.5(TAFAZZIN):c.579G>A (p.Lys193=)
NM_000116.5(TAFAZZIN):c.580_583+10del
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs) rs2148211636
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter) rs794729167
NM_000116.5(TAFAZZIN):c.583+5G>A
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg) rs878853656
NM_000116.5(TAFAZZIN):c.583G>T (p.Gly195Ter) rs878853656
NM_000116.5(TAFAZZIN):c.584-11C>A
NM_000116.5(TAFAZZIN):c.584-15C>G
NM_000116.5(TAFAZZIN):c.584-1G>A
NM_000116.5(TAFAZZIN):c.584-9C>A rs2068583124
NM_000116.5(TAFAZZIN):c.584-9C>G
NM_000116.5(TAFAZZIN):c.584-9C>T
NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu)
NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs)
NM_000116.5(TAFAZZIN):c.588C>T (p.Ile196=)
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) rs132630277
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.594C>A (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.594C>G (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.605_608del (p.Glu202fs) rs1603381671
NM_000116.5(TAFAZZIN):c.608G>A (p.Cys203Tyr)
NM_000116.5(TAFAZZIN):c.609T>A (p.Cys203Ter)
NM_000116.5(TAFAZZIN):c.611A>G (p.His204Arg)
NM_000116.5(TAFAZZIN):c.613C>A (p.Leu205Ile)
NM_000116.5(TAFAZZIN):c.626T>A (p.Ile209Asn)
NM_000116.5(TAFAZZIN):c.628C>T (p.Leu210=) rs782162647
NM_000116.5(TAFAZZIN):c.632C>A (p.Pro211His) rs2148212627
NM_000116.5(TAFAZZIN):c.633C>T (p.Pro211=)
NM_000116.5(TAFAZZIN):c.634del (p.Leu212fs) rs2148212610
NM_000116.5(TAFAZZIN):c.635T>C (p.Leu212Pro)
NM_000116.5(TAFAZZIN):c.642T>C (p.His214=)
NM_000116.5(TAFAZZIN):c.645C>T (p.Val215=)
NM_000116.5(TAFAZZIN):c.646+12G>A
NM_000116.5(TAFAZZIN):c.646+12del
NM_000116.5(TAFAZZIN):c.646+13A>T
NM_000116.5(TAFAZZIN):c.646+15G>A
NM_000116.5(TAFAZZIN):c.646+18G>A
NM_000116.5(TAFAZZIN):c.646+20C>G
NM_000116.5(TAFAZZIN):c.646+7C>T
NM_000116.5(TAFAZZIN):c.646+8T>C
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.647-14C>G
NM_000116.5(TAFAZZIN):c.647-1G>C rs587776741
NM_000116.5(TAFAZZIN):c.647-6C>T rs901353067
NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu) rs727504431
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) rs727504431
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu) rs140751478
NM_000116.5(TAFAZZIN):c.658G>A (p.Val220Ile)
NM_000116.5(TAFAZZIN):c.678C>T (p.Pro226=) rs1603381820
NM_000116.5(TAFAZZIN):c.682T>C (p.Phe228Leu)
NM_000116.5(TAFAZZIN):c.684C>T (p.Phe228=)
NM_000116.5(TAFAZZIN):c.687C>T (p.Pro229=)
NM_000116.5(TAFAZZIN):c.688C>T (p.Arg230Cys)
NM_000116.5(TAFAZZIN):c.688del (p.Arg230fs) rs1569552936
NM_000116.5(TAFAZZIN):c.690C>A (p.Arg230=)
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) rs1603381860
NM_000116.5(TAFAZZIN):c.699+15C>T
NM_000116.5(TAFAZZIN):c.699+17G>A
NM_000116.5(TAFAZZIN):c.699+19C>T
NM_000116.5(TAFAZZIN):c.699+1G>T
NM_000116.5(TAFAZZIN):c.699+6T>G
NM_000116.5(TAFAZZIN):c.69C>G (p.Val23=)
NM_000116.5(TAFAZZIN):c.700-13G>A
NM_000116.5(TAFAZZIN):c.700-14C>T
NM_000116.5(TAFAZZIN):c.700-19C>G
NM_000116.5(TAFAZZIN):c.700-1G>A rs397515747
NM_000116.5(TAFAZZIN):c.700-1del
NM_000116.5(TAFAZZIN):c.702A>G (p.Lys234=)
NM_000116.5(TAFAZZIN):c.703dup (p.Ile235fs)
NM_000116.5(TAFAZZIN):c.705C>A (p.Ile235=)
NM_000116.5(TAFAZZIN):c.705C>G (p.Ile235Met)
NM_000116.5(TAFAZZIN):c.707C>T (p.Thr236Ile)
NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs) rs727504394
NM_000116.5(TAFAZZIN):c.711G>C (p.Val237=)
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000116.5(TAFAZZIN):c.723G>A (p.Lys241=) rs2148214484
NM_000116.5(TAFAZZIN):c.725C>T (p.Pro242Leu)
NM_000116.5(TAFAZZIN):c.727T>A (p.Phe243Ile)
NM_000116.5(TAFAZZIN):c.735C>T (p.Ala245=)
NM_000116.5(TAFAZZIN):c.745C>A (p.Leu249Ile)
NM_000116.5(TAFAZZIN):c.747C>G (p.Leu249=) rs376379156
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) rs376379156
NM_000116.5(TAFAZZIN):c.747_748insCGGGCGCCGGCGGCTCTCC (p.Glu250fs)
NM_000116.5(TAFAZZIN):c.748G>T (p.Glu250Ter)
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly) rs372689133
NM_000116.5(TAFAZZIN):c.752G>A (p.Arg251Gln)
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs) rs1557194381
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp) rs2068605582
NM_000116.5(TAFAZZIN):c.759G>A (p.Arg253=)
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter) rs2068606445
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu) rs2068606445
NM_000116.5(TAFAZZIN):c.776C>T (p.Ala259Val)
NM_000116.5(TAFAZZIN):c.777+19C>T
NM_000116.5(TAFAZZIN):c.777+1G>A rs2068606932
NM_000116.5(TAFAZZIN):c.777+20C>T
NM_000116.5(TAFAZZIN):c.777+3G>A rs2068606988
NM_000116.5(TAFAZZIN):c.777+6T>C rs782175712
NM_000116.5(TAFAZZIN):c.778-2A>G rs876661112
NM_000116.5(TAFAZZIN):c.778-63_778-51del rs782249471
NM_000116.5(TAFAZZIN):c.778-6C>A
NM_000116.5(TAFAZZIN):c.778-8del
NM_000116.5(TAFAZZIN):c.788G>A (p.Arg263Gln)
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) rs1557194488
NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met) rs1557194504
NM_000116.5(TAFAZZIN):c.801G>T (p.Thr267=)
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) rs1298362744
NM_000116.5(TAFAZZIN):c.812A>C (p.Gln271Pro)
NM_000116.5(TAFAZZIN):c.813A>G (p.Gln271=)
NM_000116.5(TAFAZZIN):c.816G>A (p.Glu272=)
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) rs397515750
NM_000116.5(TAFAZZIN):c.836C>T (p.Thr279Ile)
NM_000116.5(TAFAZZIN):c.836del (p.Thr279fs) rs1557194525
NM_000116.5(TAFAZZIN):c.843_850del (p.Glu282fs)
NM_000116.5(TAFAZZIN):c.846G>A (p.Glu282=)
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His) rs1025920600
NM_000116.5(TAFAZZIN):c.855C>A (p.His285Gln)
NM_000116.5(TAFAZZIN):c.85G>C (p.Gly29Arg)
NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=) rs1603382441
NM_000116.5(TAFAZZIN):c.868_872dup (p.Arg292fs)
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile) rs2068315101
NM_000116.5(TAFAZZIN):c.90C>T (p.Thr30=)
NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys)
NM_000116.5(TAZ):c.-119=
NM_001001563.5(TIMM50):c.260G>C (p.Gly87Ala) rs776019250
NM_001001563.5(TIMM50):c.26C>A (p.Ser9Ter) rs35135520
NM_001001563.5(TIMM50):c.328C>T (p.Gln110Ter)
NM_001001563.5(TIMM50):c.446C>T (p.Thr149Met) rs1244226820
NM_001001563.5(TIMM50):c.44T>G (p.Leu15Arg)
NM_001001563.5(TIMM50):c.492+17C>G rs4803245
NM_001001563.5(TIMM50):c.620G>T (p.Ser207Ile) rs2079507347
NM_001001563.5(TIMM50):c.671G>T (p.Arg224Ile) rs2079508089
NM_001001563.5(TIMM50):c.805G>A (p.Gly269Ser) rs797044891
NM_001017989.3(OPA3):c.221del (p.Gly74fs) rs779350552
NM_001017989.3(OPA3):c.232G>T (p.Glu78Ter) rs763348163
NM_001017989.3(OPA3):c.256G>T (p.Glu86Ter) rs780614894
NM_001017989.3(OPA3):c.268_270del (p.Phe90del) rs755084544
NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter) rs1225701554
NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter) rs762247018
NM_001017989.3(OPA3):c.380del (p.Gly127fs) rs1555730165
NM_001017989.3(OPA3):c.414G>A (p.Ala138=) rs566450630
NM_001017989.3(OPA3):c.436C>T (p.Gln146Ter) rs1555730159
NM_001017989.3(OPA3):c.444_448del (p.Leu149fs) rs1599947088
NM_001017989.3(OPA3):c.445del (p.Leu149fs) rs780299639
NM_001017989.3(OPA3):c.448G>T (p.Glu150Ter) rs1555730157
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs) rs1599947052
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs) rs1555730141
NM_001017989.3(OPA3):c.541T>C (p.Ter181Gln) rs1555730136
NM_001017989.3(OPA3):c.542A>G (p.Ter181Trp) rs375580763
NM_001017989.3(OPA3):c.542_543del (p.Lys180_Ter181insTer) rs1555730133
NM_001081.4(CUBN):c.*177C>G rs886046860
NM_001081.4(CUBN):c.*267A>T rs1203238498
NM_001081.4(CUBN):c.*304G>T rs2131292535
NM_001081.4(CUBN):c.*329C>G rs376727720
NM_001081.4(CUBN):c.*329C>T rs376727720
NM_001081.4(CUBN):c.*330G>A rs181630914
NM_001081.4(CUBN):c.*330G>C rs181630914
NM_001081.4(CUBN):c.*420C>T rs182278265
NM_001081.4(CUBN):c.*453A>G rs1838716540
NM_001081.4(CUBN):c.*460C>A rs1588559715
NM_001081.4(CUBN):c.*514T>G rs886046854
NM_001081.4(CUBN):c.*794A>G rs886046852
NM_001081.4(CUBN):c.*883G>A rs886046851
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=) rs147563157
NM_001081.4(CUBN):c.10143C>G (p.Asn3381Lys) rs1839164438
NM_001081.4(CUBN):c.1036G>C (p.Val346Leu) rs886046879
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter) rs201426128
NM_001081.4(CUBN):c.10466T>G (p.Phe3489Cys) rs886046863
NM_001081.4(CUBN):c.10656C>A (p.Asn3552Lys) rs1801232
NM_001081.4(CUBN):c.10656C>T (p.Asn3552=) rs1801232
NM_001081.4(CUBN):c.10728C>G (p.Asn3576Lys) rs368511477
NM_001081.4(CUBN):c.10729G>T (p.Ala3577Ser) rs139051724
NM_001081.4(CUBN):c.10742C>T (p.Ser3581Phe) rs2131299558
NM_001081.4(CUBN):c.10752A>T (p.Pro3584=) rs886046862
NM_001081.4(CUBN):c.10777G>A (p.Ala3593Thr) rs1838734881
NM_001081.4(CUBN):c.10846G>A (p.Ala3616Thr) rs564429505
NM_001081.4(CUBN):c.1405G>C (p.Val469Leu) rs780440368
NM_001081.4(CUBN):c.1837G>C (p.Gly613Arg) rs2131869531
NM_001081.4(CUBN):c.1911C>T (p.Leu637=) rs41289311
NM_001081.4(CUBN):c.2110+10C>G rs752409034
NM_001081.4(CUBN):c.2110T>G (p.Ser704Ala) rs2131865310
NM_001081.4(CUBN):c.2151T>C (p.Gly717=) rs1836053318
NM_001081.4(CUBN):c.2446G>A (p.Ala816Thr)
NM_001081.4(CUBN):c.2447-15T>A rs886046877
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs) rs386833777
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter) rs386833778
NM_001081.4(CUBN):c.2673C>T (p.Cys891=) rs386833778
NM_001081.4(CUBN):c.2791G>A (p.Ala931Thr) rs1042319182
NM_001081.4(CUBN):c.2792-1G>T rs2131845016
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys) rs2131844929
NM_001081.4(CUBN):c.3329+1G>T rs1205598688
NM_001081.4(CUBN):c.3330-439C>G rs386833782
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu) rs2131820786
NM_001081.4(CUBN):c.3551C>G (p.Pro1184Arg) rs886046876
NM_001081.4(CUBN):c.3604G>A (p.Ala1202Thr) rs141740096
NM_001081.4(CUBN):c.3604G>T (p.Ala1202Ser) rs141740096
NM_001081.4(CUBN):c.3605C>T (p.Ala1202Val) rs1835097031
NM_001081.4(CUBN):c.3823C>T (p.Arg1275Trp) rs189294363
NM_001081.4(CUBN):c.3928A>G (p.Ile1310Val) rs1325181765
NM_001081.4(CUBN):c.3931C>T (p.Arg1311Trp) rs776683073
NM_001081.4(CUBN):c.4020C>G (p.Leu1340=) rs769326338
NM_001081.4(CUBN):c.4069C>G (p.Pro1357Ala) rs780012075
NM_001081.4(CUBN):c.409A>C (p.Ser137Arg) rs202053511
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs) rs774493547
NM_001081.4(CUBN):c.4212C>T (p.Ser1404=) rs544694254
NM_001081.4(CUBN):c.4350+5G>A rs200324164
NM_001081.4(CUBN):c.4351-1G>C
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs) rs770921101
NM_001081.4(CUBN):c.4633A>C (p.Asn1545His) rs1391948790
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer) rs2131697094
NM_001081.4(CUBN):c.4720A>G (p.Met1574Val) rs1482983523
NM_001081.4(CUBN):c.489+14T>C rs886046882
NM_001081.4(CUBN):c.4934A>G (p.Gln1645Arg) rs1243565121
NM_001081.4(CUBN):c.4973del (p.Asn1658fs) rs1588511533
NM_001081.4(CUBN):c.5222C>A (p.Thr1741Lys) rs144943516
NM_001081.4(CUBN):c.5285T>G (p.Val1762Gly) rs149164899
NM_001081.4(CUBN):c.5302A>G (p.Ile1768Val) rs779378713
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile) rs74116778
NM_001081.4(CUBN):c.5305G>C (p.Val1769Leu) rs74116778
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
NM_001081.4(CUBN):c.5343-11C>T rs777975604
NM_001081.4(CUBN):c.5343-6A>G rs776579478
NM_001081.4(CUBN):c.5569G>A (p.Val1857Met) rs886046873
NM_001081.4(CUBN):c.5580T>A (p.His1860Gln) rs980358703
NM_001081.4(CUBN):c.5597C>T (p.Pro1866Leu) rs376970710
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.4(CUBN):c.5961A>G (p.Ala1987=) rs886046872
NM_001081.4(CUBN):c.5965G>A (p.Val1989Met) rs368951850
NM_001081.4(CUBN):c.6145C>A (p.Gln2049Lys) rs141319759
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser) rs569527072
NM_001081.4(CUBN):c.6276C>T (p.Cys2092=) rs146319349
NM_001081.4(CUBN):c.6833A>G (p.Asn2278Ser) rs942411004
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001081.4(CUBN):c.7397C>G (p.Pro2466Arg) rs1184270888
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu) rs202229367
NM_001081.4(CUBN):c.7586G>A (p.Ser2529Asn) rs886046868
NM_001081.4(CUBN):c.7798G>A (p.Glu2600Lys) rs766806038
NM_001081.4(CUBN):c.7816C>A (p.Pro2606Thr) rs886046867
NM_001081.4(CUBN):c.7916A>T (p.Asp2639Val) rs2131430542
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter) rs1161400848
NM_001081.4(CUBN):c.8219C>A (p.Thr2740Lys) rs2131420801
NM_001081.4(CUBN):c.8233G>A (p.Asp2745Asn) rs886046865
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu) rs2131420669
NM_001081.4(CUBN):c.827C>T (p.Thr276Ile) rs886046881
NM_001081.4(CUBN):c.8578T>G (p.Cys2860Gly) rs138719573
NM_001081.4(CUBN):c.8831T>G (p.Met2944Arg) rs544783535
NM_001081.4(CUBN):c.8977A>G (p.Thr2993Ala) rs1408193576
NM_001081.4(CUBN):c.923A>C (p.Glu308Ala) rs886046880
NM_001081.4(CUBN):c.9397A>C (p.Lys3133Gln) rs1432636083
NM_001081.4(CUBN):c.9990A>C (p.Gln3330His) rs1839305562
NM_001258392.3(CLPB):c.1008T>G (p.Asn336Lys) rs2135512797
NM_001258392.3(CLPB):c.1017C>G (p.Tyr339Ter)
NM_001258392.3(CLPB):c.1024G>A (p.Glu342Lys)
NM_001258392.3(CLPB):c.1027C>T (p.His343Tyr)
NM_001258392.3(CLPB):c.1033C>T (p.Leu345=) rs1949786030
NM_001258392.3(CLPB):c.103C>A (p.Arg35=)
NM_001258392.3(CLPB):c.1047C>T (p.Phe349=)
NM_001258392.3(CLPB):c.1053A>G (p.Gly351=) rs1949785389
NM_001258392.3(CLPB):c.1066+1G>A rs1555087619
NM_001258392.3(CLPB):c.1066+9del rs1204558796
NM_001258392.3(CLPB):c.1067-11T>C
NM_001258392.3(CLPB):c.1067-20T>A
NM_001258392.3(CLPB):c.1067-20T>C
NM_001258392.3(CLPB):c.1067-3T>C
NM_001258392.3(CLPB):c.1067-9T>C rs372848873
NM_001258392.3(CLPB):c.1094C>A (p.Ala365Asp)
NM_001258392.3(CLPB):c.109G>C (p.Val37Leu) rs773901608
NM_001258392.3(CLPB):c.1102A>G (p.Met368Val)
NM_001258392.3(CLPB):c.1122+11G>A
NM_001258392.3(CLPB):c.1122+16T>G
NM_001258392.3(CLPB):c.1123-13T>C
NM_001258392.3(CLPB):c.1123-18T>C
NM_001258392.3(CLPB):c.1123-3C>A
NM_001258392.3(CLPB):c.1132A>T (p.Arg378Trp)
NM_001258392.3(CLPB):c.1134G>A (p.Arg378=) rs890501416
NM_001258392.3(CLPB):c.1137G>A (p.Leu379=) rs267603176
NM_001258392.3(CLPB):c.1147G>A (p.Glu383Lys) rs1949671839
NM_001258392.3(CLPB):c.114T>C (p.Thr38=) rs1590948323
NM_001258392.3(CLPB):c.1164C>G (p.His388Gln) rs202009794
NM_001258392.3(CLPB):c.1167+10G>A
NM_001258392.3(CLPB):c.1167+3G>T
NM_001258392.3(CLPB):c.1167+5G>T rs1565424666
NM_001258392.3(CLPB):c.1167+9T>C
NM_001258392.3(CLPB):c.1168-3C>G
NM_001258392.3(CLPB):c.1168-9T>C rs979851122
NM_001258392.3(CLPB):c.1181T>C (p.Ile394Thr)
NM_001258392.3(CLPB):c.1184G>A (p.Gly395Glu)
NM_001258392.3(CLPB):c.1190C>T (p.Pro397Leu) rs2135500838
NM_001258392.3(CLPB):c.1201G>A (p.Val401Ile)
NM_001258392.3(CLPB):c.1202T>C (p.Val401Ala) rs138691107
NM_001258392.3(CLPB):c.1205G>C (p.Gly402Ala)
NM_001258392.3(CLPB):c.1214A>T (p.Glu405Val) rs1590764241
NM_001258392.3(CLPB):c.1215_1217inv (p.Glu405_Gly406delinsAspPro)
NM_001258392.3(CLPB):c.1230C>T (p.Thr410=)
NM_001258392.3(CLPB):c.1245G>A (p.Gln415=)
NM_001258392.3(CLPB):c.1252A>C (p.Asn418His)
NM_001258392.3(CLPB):c.1275A>G (p.Glu425=)
NM_001258392.3(CLPB):c.1283A>G (p.Lys428Arg)
NM_001258392.3(CLPB):c.1291C>T (p.Pro431Ser)
NM_001258392.3(CLPB):c.1297G>A (p.Val433Met)
NM_001258392.3(CLPB):c.1299G>C (p.Val433=)
NM_001258392.3(CLPB):c.1300C>T (p.Leu434Phe) rs758030499
NM_001258392.3(CLPB):c.131A>C (p.Glu44Ala)
NM_001258392.3(CLPB):c.1320G>A (p.Leu440=) rs146721061
NM_001258392.3(CLPB):c.1329+1G>A rs2135500473
NM_001258392.3(CLPB):c.1341_1344del (p.Asp448fs)
NM_001258392.3(CLPB):c.1366T>C (p.Cys456Arg) rs886041118
NM_001258392.3(CLPB):c.1371G>A (p.Lys457=)
NM_001258392.3(CLPB):c.1409A>G (p.Asp470Gly) rs1365431764
NM_001258392.3(CLPB):c.1413G>C (p.Glu471Asp) rs780612425
NM_001258392.3(CLPB):c.1416C>T (p.Ile472=) rs1949536469
NM_001258392.3(CLPB):c.1417G>A (p.Ala473Thr)
NM_001258392.3(CLPB):c.1427C>A (p.Ala476Glu) rs2135487981
NM_001258392.3(CLPB):c.142C>G (p.Leu48Val) rs1856650498
NM_001258392.3(CLPB):c.1440G>A (p.Arg480=)
NM_001258392.3(CLPB):c.1453G>A (p.Glu485Lys) rs143522576
NM_001258392.3(CLPB):c.1474_1475delinsTG (p.Ala492Cys) rs1555085159
NM_001258392.3(CLPB):c.1482C>G (p.Asn494Lys) rs779812366
NM_001258392.3(CLPB):c.1484T>C (p.Leu495Pro)
NM_001258392.3(CLPB):c.1485G>A (p.Leu495=) rs1949534031
NM_001258392.3(CLPB):c.1486+7C>T
NM_001258392.3(CLPB):c.1486+8G>A
NM_001258392.3(CLPB):c.1487-17_1487-16del
NM_001258392.3(CLPB):c.1489G>A (p.Asp497Asn)
NM_001258392.3(CLPB):c.1489G>C (p.Asp497His) rs918777173
NM_001258392.3(CLPB):c.148G>T (p.Val50Leu)
NM_001258392.3(CLPB):c.1492G>A (p.Val498Ile) rs2135486440
NM_001258392.3(CLPB):c.1495C>A (p.Gln499Lys)
NM_001258392.3(CLPB):c.1497G>C (p.Gln499His) rs577566573
NM_001258392.3(CLPB):c.1514C>G (p.Thr505Ser) rs200812003
NM_001258392.3(CLPB):c.1514C>T (p.Thr505Ile) rs200812003
NM_001258392.3(CLPB):c.1530C>G (p.Phe510Leu) rs778078736
NM_001258392.3(CLPB):c.1548C>T (p.Arg516=)
NM_001258392.3(CLPB):c.1552A>C (p.Ile518Leu)
NM_001258392.3(CLPB):c.1552A>G (p.Ile518Val) rs1949516441
NM_001258392.3(CLPB):c.1560+19C>T
NM_001258392.3(CLPB):c.1560+2_1560+5del
NM_001258392.3(CLPB):c.1561-12C>G
NM_001258392.3(CLPB):c.1561-18_1561-12del rs1166987571
NM_001258392.3(CLPB):c.1561-20C>T
NM_001258392.3(CLPB):c.1561-7C>T
NM_001258392.3(CLPB):c.1574G>A (p.Arg525Lys)
NM_001258392.3(CLPB):c.1579G>A (p.Glu527Lys) rs1590753263
NM_001258392.3(CLPB):c.157G>A (p.Gly53Arg)
NM_001258392.3(CLPB):c.157G>T (p.Gly53Trp)
NM_001258392.3(CLPB):c.1588G>A (p.Gly530Arg) rs2135485868
NM_001258392.3(CLPB):c.158G>C (p.Gly53Ala)
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp) rs1949512456
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln) rs1590753221
NM_001258392.3(CLPB):c.1595del (p.Ile532fs) rs876657402
NM_001258392.3(CLPB):c.1598A>G (p.Asn533Ser)
NM_001258392.3(CLPB):c.1610A>C (p.Tyr537Ser) rs150857620
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.1610A>T (p.Tyr537Phe)
NM_001258392.3(CLPB):c.1623C>T (p.Phe541=)
NM_001258392.3(CLPB):c.1631C>G (p.Ser544Trp) rs1430716011
NM_001258392.3(CLPB):c.1632G>A (p.Ser544=)
NM_001258392.3(CLPB):c.1640T>C (p.Ile547Thr)
NM_001258392.3(CLPB):c.1644A>G (p.Gln548=) rs1949510719
NM_001258392.3(CLPB):c.1648G>A (p.Val550Ile)
NM_001258392.3(CLPB):c.1666T>A (p.Phe556Ile) rs1949509947
NM_001258392.3(CLPB):c.1677G>T (p.Lys559Asn) rs2135485638
NM_001258392.3(CLPB):c.1680+2dup
NM_001258392.3(CLPB):c.1680+6A>C rs1949509457
NM_001258392.3(CLPB):c.1680+9G>A
NM_001258392.3(CLPB):c.1681-17T>C
NM_001258392.3(CLPB):c.1681-1G>A
NM_001258392.3(CLPB):c.1681-3C>T
NM_001258392.3(CLPB):c.1682C>T (p.Ala561Val) rs748010262
NM_001258392.3(CLPB):c.1718G>C (p.Arg573Pro) rs765245566
NM_001258392.3(CLPB):c.1720G>A (p.Glu574Lys)
NM_001258392.3(CLPB):c.1727C>G (p.Ala576Gly)
NM_001258392.3(CLPB):c.174A>G (p.Thr58=)
NM_001258392.3(CLPB):c.1750A>G (p.Asn584Asp)
NM_001258392.3(CLPB):c.1758C>G (p.His586Gln) rs2135484836
NM_001258392.3(CLPB):c.1764C>T (p.Gly588=)
NM_001258392.3(CLPB):c.1768C>T (p.Arg590Cys) rs2135484821
NM_001258392.3(CLPB):c.1785+13G>A
NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser)
NM_001258392.3(CLPB):c.1795C>T (p.Arg599Cys) rs369227883
NM_001258392.3(CLPB):c.1799T>C (p.Val600Ala)
NM_001258392.3(CLPB):c.17T>A (p.Val6Glu)
NM_001258392.3(CLPB):c.1813_1814delinsAA (p.Ala605Lys)
NM_001258392.3(CLPB):c.1817C>T (p.Ala606Val)
NM_001258392.3(CLPB):c.1823A>G (p.Tyr608Cys)
NM_001258392.3(CLPB):c.1825G>A (p.Glu609Lys) rs375934856
NM_001258392.3(CLPB):c.182C>T (p.Ala61Val) rs767517671
NM_001258392.3(CLPB):c.1832A>T (p.Asp611Val) rs767839493
NM_001258392.3(CLPB):c.1836G>T (p.Leu612=)
NM_001258392.3(CLPB):c.183C>T (p.Ala61=)
NM_001258392.3(CLPB):c.1847G>C (p.Gly616Ala) rs759500860
NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val) rs759500860
NM_001258392.3(CLPB):c.1847dup (p.Cys617fs) rs886041119
NM_001258392.3(CLPB):c.1858C>T (p.Arg620Cys)
NM_001258392.3(CLPB):c.1859G>A (p.Arg620His) rs137882645
NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu) rs137882645
NM_001258392.3(CLPB):c.1861A>G (p.Ile621Val) rs755357754
NM_001258392.3(CLPB):c.1870G>C (p.Glu624Gln) rs1949489503
NM_001258392.3(CLPB):c.1890A>G (p.Leu630=)
NM_001258392.3(CLPB):c.1902A>C (p.Pro634=) rs776395544
NM_001258392.3(CLPB):c.1902A>G (p.Pro634=)
NM_001258392.3(CLPB):c.1908G>A (p.Leu636=) rs2135483654
NM_001258392.3(CLPB):c.1909C>T (p.Pro637Ser)
NM_001258392.3(CLPB):c.1910C>G (p.Pro637Arg)
NM_001258392.3(CLPB):c.1920G>A (p.Gln640=)
NM_001258392.3(CLPB):c.1920G>C (p.Gln640His)
NM_001258392.3(CLPB):c.1930C>T (p.Arg644Cys)
NM_001258392.3(CLPB):c.1931G>A (p.Arg644His)
NM_001258392.3(CLPB):c.193G>A (p.Gly65Arg) rs368496010
NM_001258392.3(CLPB):c.193G>C (p.Gly65Arg)
NM_001258392.3(CLPB):c.193G>T (p.Gly65Ter) rs368496010
NM_001258392.3(CLPB):c.1940A>G (p.Lys647Arg)
NM_001258392.3(CLPB):c.1945C>T (p.Arg649Cys)
NM_001258392.3(CLPB):c.1955T>A (p.Ile652Asn) rs886041120
NM_001258392.3(CLPB):c.1959C>G (p.Ile653Met)
NM_001258392.3(CLPB):c.1959C>T (p.Ile653=)
NM_001258392.3(CLPB):c.1960G>A (p.Asp654Asn)
NM_001258392.3(CLPB):c.1972A>G (p.Lys658Glu)
NM_001258392.3(CLPB):c.1976C>G (p.Thr659Ser)
NM_001258392.3(CLPB):c.1981A>G (p.Arg661Gly) rs2135483452
NM_001258392.3(CLPB):c.2009_2010del (p.Pro670fs)
NM_001258392.3(CLPB):c.2021G>A (p.Cys674Tyr)
NM_001258392.3(CLPB):c.2021G>T (p.Cys674Phe) rs372096809
NM_001258392.3(CLPB):c.2023_*4del (p.Asn675fs) rs1362604874
NM_001258392.3(CLPB):c.2028C>T (p.Thr676=) rs2135483266
NM_001258392.3(CLPB):c.202G>A (p.Ala68Thr)
NM_001258392.3(CLPB):c.2033A>G (p.Ter678Trp) rs1949484806
NM_001258392.3(CLPB):c.2034del (p.Ter678TyrextTer?)
NM_001258392.3(CLPB):c.203C>A (p.Ala68Glu) rs746191886
NM_001258392.3(CLPB):c.209C>A (p.Thr70Asn)
NM_001258392.3(CLPB):c.211G>T (p.Gly71Trp)
NM_001258392.3(CLPB):c.212G>A (p.Gly71Glu)
NM_001258392.3(CLPB):c.213G>A (p.Gly71=) rs1856645490
NM_001258392.3(CLPB):c.217C>A (p.Arg73Ser)
NM_001258392.3(CLPB):c.221dup (p.Gly76fs) rs2135181870
NM_001258392.3(CLPB):c.229C>G (p.Arg77Gly)
NM_001258392.3(CLPB):c.230G>C (p.Arg77Pro)
NM_001258392.3(CLPB):c.242A>G (p.Lys81Arg) rs1293473561
NM_001258392.3(CLPB):c.253G>A (p.Ala85Thr)
NM_001258392.3(CLPB):c.256_261del (p.Ala86_Thr87del) rs1565108155
NM_001258392.3(CLPB):c.257C>T (p.Ala86Val) rs2135181668
NM_001258392.3(CLPB):c.260C>T (p.Thr87Ile) rs1424542665
NM_001258392.3(CLPB):c.270C>T (p.Arg90=)
NM_001258392.3(CLPB):c.271C>T (p.Leu91Phe)
NM_001258392.3(CLPB):c.278G>A (p.Gly93Asp)
NM_001258392.3(CLPB):c.278G>C (p.Gly93Ala)
NM_001258392.3(CLPB):c.278dup (p.Pro94fs)
NM_001258392.3(CLPB):c.282C>T (p.Pro94=)
NM_001258392.3(CLPB):c.303G>A (p.Gln101=)
NM_001258392.3(CLPB):c.315C>T (p.Asn105=)
NM_001258392.3(CLPB):c.325A>G (p.Ser109Gly) rs1856636073
NM_001258392.3(CLPB):c.328A>G (p.Arg110Gly)
NM_001258392.3(CLPB):c.343A>C (p.Met115Leu)
NM_001258392.3(CLPB):c.343A>G (p.Met115Val) rs755190312
NM_001258392.3(CLPB):c.34C>G (p.Leu12Val)
NM_001258392.3(CLPB):c.34C>T (p.Leu12=)
NM_001258392.3(CLPB):c.350C>T (p.Ala117Val) rs563749368
NM_001258392.3(CLPB):c.352C>T (p.Leu118=)
NM_001258392.3(CLPB):c.354_355delinsCT (p.Ala119Ser)
NM_001258392.3(CLPB):c.361G>A (p.Ala121Thr)
NM_001258392.3(CLPB):c.361G>T (p.Ala121Ser)
NM_001258392.3(CLPB):c.369G>T (p.Val123=)
NM_001258392.3(CLPB):c.373C>G (p.His125Asp)
NM_001258392.3(CLPB):c.378C>T (p.Cys126=)
NM_001258392.3(CLPB):c.380A>G (p.Tyr127Cys)
NM_001258392.3(CLPB):c.384C>A (p.Ser128Arg) rs745934487
NM_001258392.3(CLPB):c.391C>A (p.Pro131Thr)
NM_001258392.3(CLPB):c.393G>A (p.Pro131=) rs1856631048
NM_001258392.3(CLPB):c.395C>T (p.Ser132Phe)
NM_001258392.3(CLPB):c.403+13T>G
NM_001258392.3(CLPB):c.403+14C>T
NM_001258392.3(CLPB):c.403+15T>G
NM_001258392.3(CLPB):c.403+6T>C rs944669671
NM_001258392.3(CLPB):c.403+7_403+8del rs754849241
NM_001258392.3(CLPB):c.403G>A (p.Asp135Asn)
NM_001258392.3(CLPB):c.404-12dup
NM_001258392.3(CLPB):c.404-14C>T
NM_001258392.3(CLPB):c.404-15C>G
NM_001258392.3(CLPB):c.404-17G>A
NM_001258392.3(CLPB):c.404-17G>C
NM_001258392.3(CLPB):c.406G>A (p.Ala136Thr)
NM_001258392.3(CLPB):c.413T>C (p.Leu138Pro) rs1384482038
NM_001258392.3(CLPB):c.419A>C (p.Glu140Ala)
NM_001258392.3(CLPB):c.41C>T (p.Pro14Leu) rs1194145425
NM_001258392.3(CLPB):c.422C>T (p.Ala141Val) rs1219520636
NM_001258392.3(CLPB):c.427C>A (p.Arg143Ser)
NM_001258392.3(CLPB):c.428G>A (p.Arg143His)
NM_001258392.3(CLPB):c.447A>G (p.Glu149=) rs1856508277
NM_001258392.3(CLPB):c.449_451delinsAATAT (p.Val150fs) rs1856508068
NM_001258392.3(CLPB):c.450C>A (p.Val150=) rs2135168122
NM_001258392.3(CLPB):c.451A>G (p.Ser151Gly)
NM_001258392.3(CLPB):c.452G>A (p.Ser151Asn)
NM_001258392.3(CLPB):c.455+1G>A rs1856507751
NM_001258392.3(CLPB):c.455G>A (p.Arg152Lys)
NM_001258392.3(CLPB):c.491A>C (p.His164Pro)
NM_001258392.3(CLPB):c.491A>G (p.His164Arg)
NM_001258392.3(CLPB):c.497T>G (p.Leu166Arg) rs2135083426
NM_001258392.3(CLPB):c.506C>T (p.Thr169Ile)
NM_001258392.3(CLPB):c.50T>G (p.Leu17Arg)
NM_001258392.3(CLPB):c.513C>G (p.Leu171=) rs1017640223
NM_001258392.3(CLPB):c.513C>T (p.Leu171=)
NM_001258392.3(CLPB):c.517G>A (p.Val173Met)
NM_001258392.3(CLPB):c.528C>A (p.Ile176=) rs766521266
NM_001258392.3(CLPB):c.533G>A (p.Arg178Gln)
NM_001258392.3(CLPB):c.538A>G (p.Asn180Asp)
NM_001258392.3(CLPB):c.539A>G (p.Asn180Ser)
NM_001258392.3(CLPB):c.542+13C>A
NM_001258392.3(CLPB):c.542+15T>C
NM_001258392.3(CLPB):c.542+18A>G
NM_001258392.3(CLPB):c.546G>A (p.Val182=) rs1854871823
NM_001258392.3(CLPB):c.547G>A (p.Val183Ile)
NM_001258392.3(CLPB):c.553G>C (p.Val185Leu)
NM_001258392.3(CLPB):c.555C>T (p.Val185=) rs770534948
NM_001258392.3(CLPB):c.56G>A (p.Arg19Gln) rs1856655686
NM_001258392.3(CLPB):c.578C>T (p.Pro193Leu) rs2135677270
NM_001258392.3(CLPB):c.599G>A (p.Ser200Asn)
NM_001258392.3(CLPB):c.646+14G>C
NM_001258392.3(CLPB):c.646+7247C>T
NM_001258392.3(CLPB):c.646+7257G>A
NM_001258392.3(CLPB):c.646+7367del
NM_001258392.3(CLPB):c.646+7369C>T
NM_001258392.3(CLPB):c.646+7372T>C
NM_001258392.3(CLPB):c.646+7375A>G
NM_001258392.3(CLPB):c.646+7G>A rs1854866433
NM_001258392.3(CLPB):c.647-10G>A rs2135614152
NM_001258392.3(CLPB):c.654C>T (p.Ile218=)
NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter) rs777202372
NM_001258392.3(CLPB):c.663G>A (p.Glu221=) rs571326442
NM_001258392.3(CLPB):c.665A>G (p.Asp222Gly)
NM_001258392.3(CLPB):c.669C>T (p.Asp223=)
NM_001258392.3(CLPB):c.680G>T (p.Arg227Met) rs1284671735
NM_001258392.3(CLPB):c.689A>T (p.Asn230Ile)
NM_001258392.3(CLPB):c.694G>C (p.Ala232Pro)
NM_001258392.3(CLPB):c.709T>G (p.Cys237Gly)
NM_001258392.3(CLPB):c.715G>A (p.Ala239Thr) rs886041117
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys) rs777313457
NM_001258392.3(CLPB):c.733C>G (p.Leu245Val)
NM_001258392.3(CLPB):c.748C>T (p.Arg250Cys) rs146762466
NM_001258392.3(CLPB):c.749G>A (p.Arg250His)
NM_001258392.3(CLPB):c.759G>A (p.Lys253=)
NM_001258392.3(CLPB):c.760_761inv (p.Glu254Ser)
NM_001258392.3(CLPB):c.764T>C (p.Leu255Pro) rs1555098495
NM_001258392.3(CLPB):c.775+14T>C
NM_001258392.3(CLPB):c.775+1G>A
NM_001258392.3(CLPB):c.776-10C>A rs141271919
NM_001258392.3(CLPB):c.776-13C>A
NM_001258392.3(CLPB):c.776-17C>T rs2135549983
NM_001258392.3(CLPB):c.776-5G>T rs1253919639
NM_001258392.3(CLPB):c.780C>T (p.Ala260=)
NM_001258392.3(CLPB):c.782A>T (p.Asn261Ile)
NM_001258392.3(CLPB):c.784C>A (p.Pro262Thr)
NM_001258392.3(CLPB):c.790C>T (p.Gln264Ter)
NM_001258392.3(CLPB):c.795G>A (p.Arg265=)
NM_001258392.3(CLPB):c.79C>T (p.Arg27Trp)
NM_001258392.3(CLPB):c.806G>T (p.Gly269Val) rs1390365704
NM_001258392.3(CLPB):c.812C>G (p.Thr271Arg) rs757880862
NM_001258392.3(CLPB):c.816C>T (p.Pro272=)
NM_001258392.3(CLPB):c.837G>A (p.Gly279=) rs2135549683
NM_001258392.3(CLPB):c.839A>C (p.Glu280Ala)
NM_001258392.3(CLPB):c.843G>A (p.Val281=) rs2135549653
NM_001258392.3(CLPB):c.850C>T (p.Leu284Phe)
NM_001258392.3(CLPB):c.860C>T (p.Thr287Ile) rs1318523407
NM_001258392.3(CLPB):c.871A>T (p.Lys291Ter) rs786205139
NM_001258392.3(CLPB):c.873+1G>A rs974377052
NM_001258392.3(CLPB):c.874-10C>G
NM_001258392.3(CLPB):c.874-7C>G
NM_001258392.3(CLPB):c.877C>A (p.Gln293Lys) rs1949961706
NM_001258392.3(CLPB):c.886C>G (p.Gln296Glu)
NM_001258392.3(CLPB):c.88G>A (p.Gly30Arg)
NM_001258392.3(CLPB):c.896G>C (p.Arg299Pro) rs547532550
NM_001258392.3(CLPB):c.896G>T (p.Arg299Leu)
NM_001258392.3(CLPB):c.897T>G (p.Arg299=)
NM_001258392.3(CLPB):c.905A>G (p.Glu302Gly) rs745539947
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly) rs144712077
NM_001258392.3(CLPB):c.908A>T (p.Glu303Val) rs144712077
NM_001258392.3(CLPB):c.909G>A (p.Glu303=)
NM_001258392.3(CLPB):c.917G>A (p.Arg306His)
NM_001258392.3(CLPB):c.925C>G (p.Leu309Val) rs941057831
NM_001258392.3(CLPB):c.937C>G (p.Leu313Val)
NM_001258392.3(CLPB):c.942G>A (p.Lys314=)
NM_001258392.3(CLPB):c.949A>G (p.Ile317Val) rs1590786067
NM_001258392.3(CLPB):c.95C>T (p.Ala32Val)
NM_001258392.3(CLPB):c.967G>T (p.Ala323Ser)
NM_001258392.3(CLPB):c.971T>A (p.Ile324Asn)
NM_001258392.3(CLPB):c.972C>T (p.Ile324=)
NM_001258392.3(CLPB):c.973G>A (p.Ala325Thr)
NM_001258392.3(CLPB):c.983G>A (p.Gly328Asp) rs1565433670
NM_001258392.3(CLPB):c.988+14A>T rs2135527417
NM_001258392.3(CLPB):c.988+16A>G
NM_001258392.3(CLPB):c.988G>A (p.Ala330Thr) rs2135527446
NM_001258392.3(CLPB):c.989-4G>A
NM_001258392.3(CLPB):c.989C>G (p.Ala330Gly) rs144942416
NM_001258392.3(CLPB):c.992T>C (p.Ile331Thr) rs2135512844
NM_001258392.3(CLPB):c.995G>A (p.Arg332Gln)
NM_001258392.3(CLPB):c.99C>A (p.Ser33=) rs1277330273
NM_001258392.3(CLPB):c.99C>G (p.Ser33=)
NM_001258392.3(CLPB):c.9G>A (p.Gly3=)
NM_001698.2(AUH):c.(?_1)_(418_?)+1del
NM_001698.2(AUH):c.-30C>G rs1057515677
NM_001698.3(AUH):c.*175G>A rs1826691653
NM_001698.3(AUH):c.*259_*262del rs377176126
NM_001698.3(AUH):c.*60G>A rs1564001076
NM_001698.3(AUH):c.107T>C (p.Leu36Pro)
NM_001698.3(AUH):c.10G>A (p.Ala4Thr)
NM_001698.3(AUH):c.12G>A (p.Ala4=)
NM_001698.3(AUH):c.12G>C (p.Ala4=)
NM_001698.3(AUH):c.153C>T (p.Ala51=)
NM_001698.3(AUH):c.156G>C (p.Gln52His)
NM_001698.3(AUH):c.174C>T (p.Ala58=)
NM_001698.3(AUH):c.197G>C (p.Gly66Ala)
NM_001698.3(AUH):c.197G>T (p.Gly66Val) rs1323577454
NM_001698.3(AUH):c.197del (p.Gly66fs) rs1219516037
NM_001698.3(AUH):c.1A>G (p.Met1Val)
NM_001698.3(AUH):c.204C>G (p.Ser68Arg)
NM_001698.3(AUH):c.20C>A (p.Ala7Glu)
NM_001698.3(AUH):c.211A>C (p.Met71Leu) rs756127206
NM_001698.3(AUH):c.215_217dup (p.Lys72_Thr73insLys)
NM_001698.3(AUH):c.231G>C (p.Leu77=)
NM_001698.3(AUH):c.232C>T (p.Arg78Trp)
NM_001698.3(AUH):c.23C>T (p.Ala8Val)
NM_001698.3(AUH):c.243C>G (p.His81Gln) rs372245304
NM_001698.3(AUH):c.261A>T (p.Arg87=) rs2132125368
NM_001698.3(AUH):c.262+10G>A
NM_001698.3(AUH):c.262+8G>A
NM_001698.3(AUH):c.263-10C>T
NM_001698.3(AUH):c.263-15T>C rs1341392485
NM_001698.3(AUH):c.263-5_263-2del rs752149463
NM_001698.3(AUH):c.268_282del (p.Val90_Ile94del) rs2132084310
NM_001698.3(AUH):c.304T>A (p.Ser102Thr) rs1554721818
NM_001698.3(AUH):c.330+1G>A rs751318305
NM_001698.3(AUH):c.331-12A>G
NM_001698.3(AUH):c.331-14C>T
NM_001698.3(AUH):c.331-20T>A
NM_001698.3(AUH):c.341C>G (p.Ala114Gly)
NM_001698.3(AUH):c.342T>C (p.Ala114=)
NM_001698.3(AUH):c.350C>T (p.Ala117Val) rs1832379274
NM_001698.3(AUH):c.373C>T (p.Arg125Trp) rs200030276
NM_001698.3(AUH):c.382A>G (p.Ile128Val)
NM_001698.3(AUH):c.385A>G (p.Ile129Val) rs1423043030
NM_001698.3(AUH):c.385A>T (p.Ile129Phe) rs1423043030
NM_001698.3(AUH):c.39dup (p.Ser14fs)
NM_001698.3(AUH):c.408A>G (p.Ile136Met)
NM_001698.3(AUH):c.40T>C (p.Ser14Pro) rs1482564472
NM_001698.3(AUH):c.419-2A>G
NM_001698.3(AUH):c.419-5T>G
NM_001698.3(AUH):c.419G>A (p.Gly140Asp) rs1829899485
NM_001698.3(AUH):c.419G>T (p.Gly140Val)
NM_001698.3(AUH):c.430A>G (p.Lys144Glu) rs2131861010
NM_001698.3(AUH):c.434A>C (p.Glu145Ala) rs2131860995
NM_001698.3(AUH):c.445A>G (p.Met149Val)
NM_001698.3(AUH):c.44T>A (p.Leu15Gln) rs757419657
NM_001698.3(AUH):c.466C>T (p.Pro156Ser)
NM_001698.3(AUH):c.467C>G (p.Pro156Arg)
NM_001698.3(AUH):c.471del (p.Phe157fs)
NM_001698.3(AUH):c.47A>G (p.His16Arg)
NM_001698.3(AUH):c.498C>G (p.Asn166Lys)
NM_001698.3(AUH):c.498C>T (p.Asn166=)
NM_001698.3(AUH):c.499G>A (p.Asp167Asn) rs776409546
NM_001698.3(AUH):c.505+18C>G
NM_001698.3(AUH):c.505+7A>G
NM_001698.3(AUH):c.506-6T>C
NM_001698.3(AUH):c.506-8C>T
NM_001698.3(AUH):c.516dup (p.Val173fs)
NM_001698.3(AUH):c.526A>G (p.Ile176Val)
NM_001698.3(AUH):c.546C>T (p.Leu182=)
NM_001698.3(AUH):c.556G>T (p.Gly186Cys) rs1040881767
NM_001698.3(AUH):c.559G>A (p.Gly187Ser) rs387906755
NM_001698.3(AUH):c.573T>A (p.Ala191=)
NM_001698.3(AUH):c.578C>T (p.Ala193Val) rs2131662764
NM_001698.3(AUH):c.584A>C (p.Asp195Ala) rs1827482942
NM_001698.3(AUH):c.598+11A>T rs1406913489
NM_001698.3(AUH):c.598+9_598+12del rs749186187
NM_001698.3(AUH):c.599-2A>G rs1587799880
NM_001698.3(AUH):c.599-7G>A
NM_001698.3(AUH):c.623T>C (p.Val208Ala) rs1050057219
NM_001698.3(AUH):c.650G>A (p.Gly217Asp) rs387906756
NM_001698.3(AUH):c.655+11T>A
NM_001698.3(AUH):c.655+3A>T
NM_001698.3(AUH):c.656-17T>G
NM_001698.3(AUH):c.656G>C (p.Gly219Ala) rs1827104191
NM_001698.3(AUH):c.658G>C (p.Gly220Arg)
NM_001698.3(AUH):c.66G>C (p.Leu22=)
NM_001698.3(AUH):c.677G>A (p.Arg226His)
NM_001698.3(AUH):c.690G>A (p.Met230Ile) rs1403383788
NM_001698.3(AUH):c.713T>C (p.Phe238Ser) rs1587621572
NM_001698.3(AUH):c.714C>T (p.Phe238=) rs1173204062
NM_001698.3(AUH):c.736A>G (p.Lys246Glu) rs2131215718
NM_001698.3(AUH):c.738A>G (p.Lys246=)
NM_001698.3(AUH):c.740A>C (p.Glu247Ala)
NM_001698.3(AUH):c.742G>A (p.Ala248Thr) rs755299132
NM_001698.3(AUH):c.768C>T (p.His256=)
NM_001698.3(AUH):c.780G>C (p.Gln260His)
NM_001698.3(AUH):c.804C>T (p.Tyr268=) rs775342115
NM_001698.3(AUH):c.809A>G (p.Lys270Arg)
NM_001698.3(AUH):c.825G>A (p.Ala275=)
NM_001698.3(AUH):c.833T>C (p.Phe278Ser) rs1398261487
NM_001698.3(AUH):c.856A>G (p.Met286Val) rs776767438
NM_001698.3(AUH):c.894+14dup rs2131194109
NM_001698.3(AUH):c.894+19G>C rs377735590
NM_001698.3(AUH):c.895-1G>A rs730880309
NM_001698.3(AUH):c.895-9del rs1194639501
NM_001698.3(AUH):c.897C>T (p.Val299=)
NM_001698.3(AUH):c.909A>C (p.Thr303=) rs779607746
NM_001698.3(AUH):c.942+4dup rs1554688047
NM_001698.3(AUH):c.943-16A>G
NM_001698.3(AUH):c.943-6del rs1826708001
NM_001698.3(AUH):c.951A>T (p.Pro317=) rs530710210
NM_001698.3(AUH):c.96G>A (p.Pro32=)
NM_001698.3(AUH):c.973C>G (p.Leu325Val)
NM_001698.3(AUH):c.980C>G (p.Ala327Gly)
NM_001698.3(AUH):c.996G>A (p.Arg332=)
NM_001698.3(AUH):c.997C>A (p.Pro333Thr)
NM_013247.5(HTRA2):c.1013_1015del (p.Leu338del) rs1675617353
NM_013247.5(HTRA2):c.1316_1320del (p.Val439fs) rs1057519080
NM_013247.5(HTRA2):c.146G>C (p.Arg49Pro) rs1675478353
NM_013247.5(HTRA2):c.573dup (p.Leu192fs) rs2104369249
NM_013247.5(HTRA2):c.728_730delinsCAT (p.Leu243_Pro244delinsProSer) rs1057519082
NM_013247.5(HTRA2):c.739C>T (p.Arg247Cys) rs763567914
NM_013247.5(HTRA2):c.755G>A (p.Arg252Gln)
NM_013247.5(HTRA2):c.906+1G>C rs1057519081
NM_025136.3(OPA3):c.-48_-41delCGCCCCGC rs886054542
NM_025136.4(OPA3):c.*1076A>G rs886054533
NM_025136.4(OPA3):c.*1254A>C rs886054532
NM_025136.4(OPA3):c.*1294dup rs74313320
NM_025136.4(OPA3):c.*1478A>G rs886054531
NM_025136.4(OPA3):c.*1761A>T rs141446737
NM_025136.4(OPA3):c.*2143_*2144del rs532263532
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.*3111AGC[3] rs542311224
NM_025136.4(OPA3):c.*3156G>T rs1969314043
NM_025136.4(OPA3):c.*3245C>T rs1969312880
NM_025136.4(OPA3):c.*324GT[1] rs571672143
NM_025136.4(OPA3):c.*3295C>G rs1969311980
NM_025136.4(OPA3):c.*3343TCTTT[2] rs373580645
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.*4026del rs879119658
NM_025136.4(OPA3):c.*4026dup rs879119658
NM_025136.4(OPA3):c.*4132CCCTG[3] rs68079762
NM_025136.4(OPA3):c.*4241C>T rs375276027
NM_025136.4(OPA3):c.*4419C>T rs886054523
NM_025136.4(OPA3):c.*4696ATAA[6] rs58537694
NM_025136.4(OPA3):c.*4696ATAA[8] rs58537694
NM_025136.4(OPA3):c.*4696ATAA[9] rs58537694
NM_025136.4(OPA3):c.*4712del rs886054518
NM_025136.4(OPA3):c.*4771C>G rs972332094
NM_025136.4(OPA3):c.*4850_*4852del rs144752998
NM_025136.4(OPA3):c.*4857A>T rs4803833
NM_025136.4(OPA3):c.*4862_*4865del rs886054515
NM_025136.4(OPA3):c.*4969C>G rs886054513
NM_025136.4(OPA3):c.*4975C>T rs567309052
NM_025136.4(OPA3):c.*50_*52del rs886054541
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.*6104_*6105del rs142661638
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.*7096_*7100del rs565521231
NM_025136.4(OPA3):c.*713C>G rs143735864
NM_025136.4(OPA3):c.*986del rs377547137
NM_025136.4(OPA3):c.*986dup rs377547137
NM_025136.4(OPA3):c.100dup (p.Ser34fs) rs1555736803
NM_025136.4(OPA3):c.103G>T (p.Glu35Ter)
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.121A>G (p.Ile41Val)
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.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+1G>A rs1555736793
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.143-1G>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.143-4G>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.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.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.217G>T (p.Glu73Ter)
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.227dup (p.Ala77fs)
NM_025136.4(OPA3):c.228A>T (p.Ala76=)
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.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.248_251dup (p.Gly85fs) rs1555732942
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.265A>G (p.Ile89Val)
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.279C>T (p.Gly93=) rs1165747962
NM_025136.4(OPA3):c.27G>A (p.Ala9=)
NM_025136.4(OPA3):c.282C>A (p.Gly94=)
NM_025136.4(OPA3):c.282C>T (p.Gly94=) rs1478895044
NM_025136.4(OPA3):c.287del (p.Cys96fs)
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.2TGG[2] (p.Val3del) rs1555736840
NM_025136.4(OPA3):c.304T>G (p.Trp102Gly)
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.322_339del (p.Gln108_Glu113del) rs80356526
NM_025136.4(OPA3):c.327C>G (p.Arg109=) rs2122439641
NM_025136.4(OPA3):c.32T>A (p.Leu11Gln) rs1969907819
NM_025136.4(OPA3):c.331_333del (p.Lys111del) rs1353357190
NM_025136.4(OPA3):c.334del (p.Glu112fs) rs1555732911
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.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.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.415C>T (p.Gln139Ter) rs28937899
NM_025136.4(OPA3):c.417G>A (p.Gln139=) rs2122438987
NM_025136.4(OPA3):c.417G>C (p.Gln139His)
NM_025136.4(OPA3):c.419_424dup (p.Val140_Gln141dup) rs1363616568
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.431del (p.Pro144fs) rs1205708262
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.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.45del (p.Ile16fs)
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.470_478del (p.Gln157_Val159del) rs745544229
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.539A>G (p.Ter180Trp) rs1057516497
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.61A>T (p.Lys21Ter) rs1555736814
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.97C>T (p.Arg33Ter)
NM_025136.4(OPA3):c.99A>G (p.Arg33=)
NM_030813.6(CLPB):c.651G>C (p.Gly217=)
NM_030813.6(CLPB):c.654dup (p.Gln219fs) rs1951072912
NM_030813.6(CLPB):c.666A>C (p.Ala222=)
NM_030813.6(CLPB):c.675C>A (p.His225Gln) rs2135658006
NM_030813.6(CLPB):c.675C>T (p.His225=)
NM_030813.6(CLPB):c.693A>C (p.Thr231=)
NM_030813.6(CLPB):c.705G>A (p.Glu235=) rs2135657829
NM_030813.6(CLPB):c.729C>T (p.Pro243=)
NM_030813.6(CLPB):c.736G>A (p.Val246Ile)
NM_030943.4(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_032861.4(SERAC1):c.*258G>A
NM_032861.4(SERAC1):c.1003A>G (p.Ile335Val)
NM_032861.4(SERAC1):c.1009C>T (p.Arg337Cys)
NM_032861.4(SERAC1):c.1016-31_1016-17del rs374730949
NM_032861.4(SERAC1):c.1089G>C (p.Leu363=)
NM_032861.4(SERAC1):c.1166+15G>A
NM_032861.4(SERAC1):c.1166+8del rs766776726
NM_032861.4(SERAC1):c.1166G>A (p.Ser389Asn)
NM_032861.4(SERAC1):c.1167-15T>C
NM_032861.4(SERAC1):c.1167_1170del rs772296795
NM_032861.4(SERAC1):c.116C>G (p.Ser39Ter)
NM_032861.4(SERAC1):c.1182A>G (p.Ala394=) rs2128412053
NM_032861.4(SERAC1):c.118C>T (p.Leu40Phe)
NM_032861.4(SERAC1):c.1195A>G (p.Ile399Val)
NM_032861.4(SERAC1):c.1203C>A (p.Gly401=)
NM_032861.4(SERAC1):c.1211G>A (p.Gly404Glu)
NM_032861.4(SERAC1):c.1228T>C (p.Trp410Arg)
NM_032861.4(SERAC1):c.1260T>C (p.Ile420=)
NM_032861.4(SERAC1):c.1266dup (p.Pro423fs)
NM_032861.4(SERAC1):c.1272G>A (p.Met424Ile)
NM_032861.4(SERAC1):c.128+7C>T
NM_032861.4(SERAC1):c.1308+6G>A
NM_032861.4(SERAC1):c.1309-18A>G
NM_032861.4(SERAC1):c.1309-18_1309-17del rs780332152
NM_032861.4(SERAC1):c.1311A>G (p.Thr437=)
NM_032861.4(SERAC1):c.1334C>A (p.Ala445Asp) rs553879407
NM_032861.4(SERAC1):c.1339C>T (p.Arg447Ter)
NM_032861.4(SERAC1):c.1347_1350dup (p.Val451fs) rs780275814
NM_032861.4(SERAC1):c.134_137del (p.Ser45fs)
NM_032861.4(SERAC1):c.1356G>A (p.Glu452=)
NM_032861.4(SERAC1):c.1364C>G (p.Thr455Ser) rs767870142
NM_032861.4(SERAC1):c.1365C>T (p.Thr455=)
NM_032861.4(SERAC1):c.1374C>T (p.Ser458=)
NM_032861.4(SERAC1):c.1375G>A (p.Asp459Asn) rs189064007
NM_032861.4(SERAC1):c.138A>G (p.Leu46=) rs777425675
NM_032861.4(SERAC1):c.1396A>G (p.Met466Val)
NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu) rs115459512
NM_032861.4(SERAC1):c.1403+1G>A rs1131690799
NM_032861.4(SERAC1):c.1403+1G>C rs1131690799
NM_032861.4(SERAC1):c.1404-13TTGTT[3]
NM_032861.4(SERAC1):c.1432CTT[1] (p.Leu479del) rs1199625391
NM_032861.4(SERAC1):c.1491T>A (p.His497Gln) rs1064796860
NM_032861.4(SERAC1):c.1501+16A>C rs369225459
NM_032861.4(SERAC1):c.1501+16A>G rs369225459
NM_032861.4(SERAC1):c.1501+4A>C rs755406082
NM_032861.4(SERAC1):c.1501+4A>G rs755406082
NM_032861.4(SERAC1):c.1501+5G>A
NM_032861.4(SERAC1):c.1502-16C>T
NM_032861.4(SERAC1):c.1502-20T>A rs867006888
NM_032861.4(SERAC1):c.1502-24dup rs780420200
NM_032861.4(SERAC1):c.1504CTT[1] (p.Leu503del) rs759351997
NM_032861.4(SERAC1):c.1505T>G (p.Leu502Arg) rs2128410682
NM_032861.4(SERAC1):c.1519_1521dup (p.Met507_Leu508insMet)
NM_032861.4(SERAC1):c.152A>G (p.Glu51Gly)
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu) rs1554261079
NM_032861.4(SERAC1):c.1611A>C (p.Ser537=)
NM_032861.4(SERAC1):c.1628C>T (p.Ser543Phe)
NM_032861.4(SERAC1):c.1628_1629dup (p.Val544fs) rs767780913
NM_032861.4(SERAC1):c.162C>T (p.Ala54=)
NM_032861.4(SERAC1):c.1635T>C (p.Asn545=)
NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs) rs761964407
NM_032861.4(SERAC1):c.1684+10T>C
NM_032861.4(SERAC1):c.1684+1G>T rs2128410576
NM_032861.4(SERAC1):c.1684+20A>G
NM_032861.4(SERAC1):c.1684+2T>C
NM_032861.4(SERAC1):c.1684+7C>T rs765831183
NM_032861.4(SERAC1):c.1693_1694dup (p.Leu566fs)
NM_032861.4(SERAC1):c.1704A>G (p.Thr568=)
NM_032861.4(SERAC1):c.1720C>G (p.Leu574Val)
NM_032861.4(SERAC1):c.1766A>C (p.Glu589Ala)
NM_032861.4(SERAC1):c.1785T>C (p.Ile595=)
NM_032861.4(SERAC1):c.1793T>C (p.Met598Thr)
NM_032861.4(SERAC1):c.1822_1828+10delinsACCAACAGG rs1554260851
NM_032861.4(SERAC1):c.1825G>A (p.Ala609Thr)
NM_032861.4(SERAC1):c.1829-6C>G
NM_032861.4(SERAC1):c.1839T>A (p.Ile613=)
NM_032861.4(SERAC1):c.183A>G (p.Leu61=)
NM_032861.4(SERAC1):c.1848A>G (p.Leu616=)
NM_032861.4(SERAC1):c.1850_1851insA (p.Pro618fs) rs2128409409
NM_032861.4(SERAC1):c.1916G>A (p.Arg639His) rs768913919
NM_032861.4(SERAC1):c.1916G>C (p.Arg639Pro) rs768913919
NM_032861.4(SERAC1):c.1926_1930del (p.Gln642fs)
NM_032861.4(SERAC1):c.1934G>A (p.Arg645His)
NM_032861.4(SERAC1):c.194T>C (p.Val65Ala)
NM_032861.4(SERAC1):c.195G>A (p.Val65=) rs2128422348
NM_032861.4(SERAC1):c.1962C>G (p.Asn654Lys) rs1784140439
NM_032861.4(SERAC1):c.1963_*1del (p.Ter655SerextTer?)
NM_032861.4(SERAC1):c.1965A>G (p.Ter655=)
NM_032861.4(SERAC1):c.203G>A (p.Arg68Gln) rs1384614641
NM_032861.4(SERAC1):c.206A>G (p.Glu69Gly) rs2128422343
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) rs139301835
NM_032861.4(SERAC1):c.21C>T (p.Cys7=) rs139301835
NM_032861.4(SERAC1):c.227_228dup (p.Val77fs) rs886041750
NM_032861.4(SERAC1):c.236_237del (p.Thr79fs)
NM_032861.4(SERAC1):c.254G>A (p.Gly85Glu) rs376468988
NM_032861.4(SERAC1):c.265+11T>C
NM_032861.4(SERAC1):c.265+11del
NM_032861.4(SERAC1):c.266-48dup rs71027384
NM_032861.4(SERAC1):c.301G>A (p.Ala101Thr)
NM_032861.4(SERAC1):c.308_311del (p.Arg103fs) rs1785136807
NM_032861.4(SERAC1):c.310A>T (p.Lys104Ter)
NM_032861.4(SERAC1):c.340C>T (p.Arg114Trp)
NM_032861.4(SERAC1):c.341G>A (p.Arg114Gln)
NM_032861.4(SERAC1):c.356-16T>C rs1785075456
NM_032861.4(SERAC1):c.356-20G>C
NM_032861.4(SERAC1):c.364A>G (p.Ser122Gly) rs191208250
NM_032861.4(SERAC1):c.412C>A (p.Arg138=)
NM_032861.4(SERAC1):c.412C>T (p.Arg138Trp)
NM_032861.4(SERAC1):c.429T>A (p.Asp143Glu)
NM_032861.4(SERAC1):c.438del (p.Thr147fs) rs1583595091
NM_032861.4(SERAC1):c.443G>T (p.Arg148Leu) rs376922578
NM_032861.4(SERAC1):c.44G>A (p.Gly15Glu) rs1785406112
NM_032861.4(SERAC1):c.458G>A (p.Arg153Gln)
NM_032861.4(SERAC1):c.468G>A (p.Ser156=)
NM_032861.4(SERAC1):c.488-3T>G rs2128420377
NM_032861.4(SERAC1):c.536T>C (p.Ile179Thr)
NM_032861.4(SERAC1):c.555A>G (p.Glu185=)
NM_032861.4(SERAC1):c.566T>C (p.Leu189Pro)
NM_032861.4(SERAC1):c.566T>G (p.Leu189Arg) rs576602246
NM_032861.4(SERAC1):c.568C>T (p.Arg190Cys) rs564717592
NM_032861.4(SERAC1):c.582A>G (p.Leu194=)
NM_032861.4(SERAC1):c.610-17C>G
NM_032861.4(SERAC1):c.625G>T (p.Glu209Ter) rs1383515185
NM_032861.4(SERAC1):c.698T>A (p.Leu233Ter) rs1583589537
NM_032861.4(SERAC1):c.698_699delinsAGTGATA (p.Leu233Ter)
NM_032861.4(SERAC1):c.719A>G (p.Gln240Arg)
NM_032861.4(SERAC1):c.72C>A (p.Gly24=)
NM_032861.4(SERAC1):c.734A>G (p.Gln245Arg)
NM_032861.4(SERAC1):c.738+1927G>C
NM_032861.4(SERAC1):c.738+5G>C
NM_032861.4(SERAC1):c.739-13A>G
NM_032861.4(SERAC1):c.739-15T>A rs1055428813
NM_032861.4(SERAC1):c.771T>C (p.Leu257=)
NM_032861.4(SERAC1):c.772C>T (p.Pro258Ser) rs571113650
NM_032861.4(SERAC1):c.777T>G (p.Tyr259Ter)
NM_032861.4(SERAC1):c.780T>C (p.Ala260=) rs2128415873
NM_032861.4(SERAC1):c.808A>G (p.Thr270Ala)
NM_032861.4(SERAC1):c.819G>A (p.Met273Ile)
NM_032861.4(SERAC1):c.821T>C (p.Phe274Ser)
NM_032861.4(SERAC1):c.840A>T (p.Val280=) rs2128415848
NM_032861.4(SERAC1):c.852+16A>T
NM_032861.4(SERAC1):c.852+7T>C rs1452026354
NM_032861.4(SERAC1):c.863A>C (p.His288Pro)
NM_032861.4(SERAC1):c.86A>G (p.Asp29Gly) rs779737059
NM_032861.4(SERAC1):c.871A>G (p.Lys291Glu)
NM_032861.4(SERAC1):c.876C>A (p.Ile292=)
NM_032861.4(SERAC1):c.885T>C (p.Asn295=)
NM_032861.4(SERAC1):c.897G>A (p.Gln299=)
NM_032861.4(SERAC1):c.91+13T>A
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_032861.4(SERAC1):c.91+9A>G
NM_032861.4(SERAC1):c.92-10del
NM_032861.4(SERAC1):c.92-13_92-10del rs779302645
NM_032861.4(SERAC1):c.92-14_92-10del
NM_032861.4(SERAC1):c.92-165C>T rs1562458862
NM_032861.4(SERAC1):c.92-17C>T rs1785305261
NM_032861.4(SERAC1):c.92-20del
NM_032861.4(SERAC1):c.92-239G>C rs1562458915
NM_032861.4(SERAC1):c.931T>C (p.Cys311Arg) rs2128415147
NM_032861.4(SERAC1):c.940G>T (p.Val314Leu)
NM_032861.4(SERAC1):c.958C>T (p.Arg320Cys)
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del) rs754630732
NM_145261.4(DNAJC19):c.*190ATTA[1] rs886058203
NM_145261.4(DNAJC19):c.*528GT[9] rs148074891
NM_145261.4(DNAJC19):c.111T>C (p.Phe37=)
NM_145261.4(DNAJC19):c.120A>T (p.Leu40=)
NM_145261.4(DNAJC19):c.121_126del (p.Pro41_Lys42del)
NM_145261.4(DNAJC19):c.129+7C>T rs2108509597
NM_145261.4(DNAJC19):c.130-4T>C
NM_145261.4(DNAJC19):c.136A>G (p.Ser46Gly)
NM_145261.4(DNAJC19):c.145T>C (p.Tyr49His)
NM_145261.4(DNAJC19):c.150T>C (p.Tyr50=)
NM_145261.4(DNAJC19):c.158G>A (p.Gly53Glu) rs755024172
NM_145261.4(DNAJC19):c.159G>C (p.Gly53=)
NM_145261.4(DNAJC19):c.198A>G (p.Ile66Met)
NM_145261.4(DNAJC19):c.203G>A (p.Gly68Asp)
NM_145261.4(DNAJC19):c.203G>T (p.Gly68Val) rs2108508819
NM_145261.4(DNAJC19):c.209+11C>T rs374496383
NM_145261.4(DNAJC19):c.209+19T>C
NM_145261.4(DNAJC19):c.210-12T>A
NM_145261.4(DNAJC19):c.210-14_210-11del
NM_145261.4(DNAJC19):c.210-14_210-13del rs757422860
NM_145261.4(DNAJC19):c.210-18A>G
NM_145261.4(DNAJC19):c.210-2A>G
NM_145261.4(DNAJC19):c.210-4T>C
NM_145261.4(DNAJC19):c.217G>A (p.Ala73Thr)
NM_145261.4(DNAJC19):c.221A>G (p.Asn74Ser) rs1218208437
NM_145261.4(DNAJC19):c.226G>A (p.Gly76Arg)
NM_145261.4(DNAJC19):c.229A>G (p.Lys77Glu)
NM_145261.4(DNAJC19):c.246T>A (p.His82Gln)
NM_145261.4(DNAJC19):c.250C>T (p.Arg84Ter)
NM_145261.4(DNAJC19):c.251G>A (p.Arg84Gln)
NM_145261.4(DNAJC19):c.259C>T (p.Leu87Phe) rs1714880831
NM_145261.4(DNAJC19):c.280+15A>C
NM_145261.4(DNAJC19):c.280+19C>A rs1203314065
NM_145261.4(DNAJC19):c.280+1_280+5del rs753055824
NM_145261.4(DNAJC19):c.280+4_280+7del
NM_145261.4(DNAJC19):c.281-15T>G
NM_145261.4(DNAJC19):c.281-15dup rs764813798
NM_145261.4(DNAJC19):c.281-21_281-19del
NM_145261.4(DNAJC19):c.281-21_281-20del
NM_145261.4(DNAJC19):c.281-2A>C
NM_145261.4(DNAJC19):c.281-4A>G
NM_145261.4(DNAJC19):c.281-5T>A rs766954639
NM_145261.4(DNAJC19):c.288T>G (p.Ser96=) rs2108506993
NM_145261.4(DNAJC19):c.294T>C (p.Tyr98=)
NM_145261.4(DNAJC19):c.295dup (p.Ile99fs)
NM_145261.4(DNAJC19):c.2T>C (p.Met1Thr)
NM_145261.4(DNAJC19):c.3+13T>C rs2108511019
NM_145261.4(DNAJC19):c.316G>A (p.Ala106Thr)
NM_145261.4(DNAJC19):c.325T>G (p.Leu109Val) rs2108506959
NM_145261.4(DNAJC19):c.32C>T (p.Thr11Ile) rs1715007911
NM_145261.4(DNAJC19):c.331G>A (p.Glu111Lys)
NM_145261.4(DNAJC19):c.332A>C (p.Glu111Ala)
NM_145261.4(DNAJC19):c.333A>G (p.Glu111=)
NM_145261.4(DNAJC19):c.348del (p.Lys116fs) rs1714802157
NM_145261.4(DNAJC19):c.4-1G>A rs878852999
NM_145261.4(DNAJC19):c.4-24_15del
NM_145261.4(DNAJC19):c.41C>T (p.Ala14Val)
NM_145261.4(DNAJC19):c.4G>A (p.Ala2Thr)
NM_145261.4(DNAJC19):c.51del (p.Phe17fs) rs1715007577
NM_145261.4(DNAJC19):c.55+10T>C
NM_145261.4(DNAJC19):c.55+1G>A rs2108509746
NM_145261.4(DNAJC19):c.55+20A>T rs1577025780
NM_145261.4(DNAJC19):c.55+5G>C rs1454974888
NM_145261.4(DNAJC19):c.56-17G>C
NM_145261.4(DNAJC19):c.56-7G>T
NM_145261.4(DNAJC19):c.57C>T (p.Gly19=)
NM_145261.4(DNAJC19):c.62A>T (p.Tyr21Phe) rs752913622
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter) rs145786060
NM_145261.4(DNAJC19):c.63C>T (p.Tyr21=) rs145786060
NM_145261.4(DNAJC19):c.63del (p.Arg20_Tyr21insTer) rs2108509666
NM_145261.4(DNAJC19):c.64G>A (p.Val22Ile)
NM_145261.4(DNAJC19):c.73G>A (p.Ala25Thr) rs2108509645
NM_145261.4(DNAJC19):c.84T>C (p.His28=)

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