NM_025136.4(OPA3):c.*6790T>C
|
rs10422253
|
0.76137
|
NM_025136.4(OPA3):c.231T>C (p.Ala77=)
|
rs3826860
|
0.70508
|
NM_025136.4(OPA3):c.*1950G>A
|
rs4404183
|
0.69999
|
NM_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_025136.4(OPA3):c.*6012A>G
|
rs11083772
|
0.57481
|
NM_025136.4(OPA3):c.*3874G>A
|
rs62109650
|
0.21272
|
NM_025136.4(OPA3):c.*5523G>A
|
rs57585727
|
0.13908
|
NM_025136.4(OPA3):c.*638T>A
|
rs150575877
|
0.13416
|
NM_025136.4(OPA3):c.*5525C>T
|
rs117230006
|
0.11413
|
NM_025136.4(OPA3):c.*4672G>A
|
rs11669246
|
0.11223
|
NM_025136.4(OPA3):c.*3212G>A
|
rs79317386
|
0.11204
|
NM_025136.4(OPA3):c.*2485G>A
|
rs8106584
|
0.08922
|
NM_025136.4(OPA3):c.*3722G>A
|
rs73568973
|
0.08874
|
NM_025136.4(OPA3):c.*577T>C
|
rs112654759
|
0.06094
|
NM_025136.4(OPA3):c.*3878A>G
|
rs79660166
|
0.06091
|
NM_025136.4(OPA3):c.*272G>A
|
rs7246349
|
0.05540
|
NM_025136.4(OPA3):c.*3531G>T
|
rs112899014
|
0.05413
|
NM_025136.4(OPA3):c.*3038G>A
|
rs73568982
|
0.05112
|
NM_025136.4(OPA3):c.*1387C>T
|
rs73568986
|
0.04457
|
NM_025136.4(OPA3):c.*7015G>A
|
rs112948303
|
0.04300
|
NM_025136.4(OPA3):c.142+69G>C
|
rs62111684
|
0.03152
|
NM_025136.4(OPA3):c.*6394G>A
|
rs151030695
|
0.02197
|
NM_025136.4(OPA3):c.*3972C>T
|
rs147972697
|
0.01701
|
NM_025136.4(OPA3):c.*7085A>G
|
rs67373144
|
0.01608
|
NM_025136.4(OPA3):c.*6275T>C
|
rs74689727
|
0.01461
|
NM_025136.4(OPA3):c.*1340C>T
|
rs12104391
|
0.01224
|
NM_025136.4(OPA3):c.*2469G>A
|
rs115566341
|
0.01165
|
NM_025136.4(OPA3):c.*1760C>T
|
rs75401979
|
0.01143
|
NM_025136.4(OPA3):c.*4794C>T
|
rs114917731
|
0.01114
|
NM_025136.4(OPA3):c.*1836C>T
|
rs74717111
|
0.01070
|
NM_025136.4(OPA3):c.*3222C>T
|
rs73568980
|
0.00971
|
NM_025136.4(OPA3):c.*6294A>C
|
rs114655581
|
0.00810
|
NM_025136.4(OPA3):c.*4853T>A
|
rs886054516
|
0.00709
|
NM_025136.4(OPA3):c.*1855T>C
|
rs146599259
|
0.00697
|
NM_025136.4(OPA3):c.*5905G>A
|
rs116705343
|
0.00675
|
NM_025136.4(OPA3):c.*6767G>A
|
rs142898530
|
0.00668
|
NM_025136.4(OPA3):c.*2696C>G
|
rs148705681
|
0.00585
|
NM_025136.4(OPA3):c.*362T>C
|
rs73942919
|
0.00539
|
NM_025136.4(OPA3):c.*6442A>G
|
rs76825983
|
0.00518
|
NM_025136.4(OPA3):c.*1642A>G
|
rs144894771
|
0.00484
|
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr)
|
rs201574732
|
0.00477
|
NM_025136.4(OPA3):c.*4954C>T
|
rs146646433
|
0.00462
|
NM_025136.4(OPA3):c.*6208C>T
|
rs139798464
|
0.00458
|
NM_025136.4(OPA3):c.*398G>T
|
rs183851663
|
0.00449
|
NM_025136.4(OPA3):c.*3117C>T
|
rs569595277
|
0.00427
|
NM_025136.4(OPA3):c.*2101A>T
|
rs139606810
|
0.00363
|
NM_025136.4(OPA3):c.*6101A>G
|
rs187296782
|
0.00363
|
NM_025136.4(OPA3):c.*80G>T
|
rs540023428
|
0.00315
|
NM_025136.4(OPA3):c.*5944G>A
|
rs190885103
|
0.00271
|
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_025136.4(OPA3):c.*5510G>A
|
rs180756622
|
0.00213
|
NM_025136.3(OPA3):c.-113T>C
|
rs139731330
|
0.00185
|
NM_025136.4(OPA3):c.*422C>T
|
rs116977551
|
0.00184
|
NM_025136.4(OPA3):c.537A>G (p.Lys179=)
|
rs140105522
|
0.00158
|
NM_025136.4(OPA3):c.*2008C>T
|
rs144432336
|
0.00156
|
NM_025136.4(OPA3):c.*3360G>A
|
rs545764728
|
0.00156
|
NM_025136.4(OPA3):c.*5565C>T
|
rs145816878
|
0.00149
|
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys)
|
rs137978109
|
0.00135
|
NM_025136.4(OPA3):c.*3884G>A
|
rs187028696
|
0.00128
|
NM_025136.4(OPA3):c.*2490C>T
|
rs11671670
|
0.00117
|
NM_025136.4(OPA3):c.*6688G>A
|
rs181576269
|
0.00102
|
NM_025136.4(OPA3):c.*2518A>G
|
rs565012397
|
0.00096
|
NM_025136.4(OPA3):c.*4949G>A
|
rs544881797
|
0.00092
|
NM_025136.4(OPA3):c.*5357G>A
|
rs549141863
|
0.00092
|
NM_025136.4(OPA3):c.*1238G>A
|
rs187216413
|
0.00088
|
NM_025136.4(OPA3):c.*677C>T
|
rs560749495
|
0.00086
|
NM_025136.4(OPA3):c.249G>C (p.Leu83=)
|
rs199692583
|
0.00080
|
NM_025136.4(OPA3):c.*3350T>G
|
rs181719786
|
0.00070
|
NM_025136.4(OPA3):c.*698G>A
|
rs561748985
|
0.00065
|
NM_025136.4(OPA3):c.*742A>T
|
rs979052921
|
0.00059
|
NM_025136.4(OPA3):c.*6674T>C
|
rs534603782
|
0.00056
|
NM_025136.4(OPA3):c.*1614C>T
|
rs185624158
|
0.00051
|
NM_025136.4(OPA3):c.*4846A>T
|
rs1438623626
|
0.00048
|
NM_025136.4(OPA3):c.*1213C>T
|
rs539298843
|
0.00040
|
NM_025136.4(OPA3):c.*7181G>A
|
rs74253369
|
0.00040
|
NM_025136.4(OPA3):c.*6902G>A
|
rs528812143
|
0.00037
|
NM_025136.4(OPA3):c.143-7C>T
|
rs375551151
|
0.00036
|
NM_025136.4(OPA3):c.143-14C>T
|
rs368939051
|
0.00034
|
NM_025136.4(OPA3):c.*1070C>T
|
rs146989248
|
0.00030
|
NM_025136.4(OPA3):c.*4372G>A
|
rs573344031
|
0.00028
|
NM_025136.4(OPA3):c.*5660A>G
|
rs935989223
|
0.00027
|
NM_025136.4(OPA3):c.*2714C>T
|
rs781539538
|
0.00024
|
NC_000019.10:g.45529113G>A
|
rs201078416
|
0.00022
|
NM_025136.4(OPA3):c.*6698G>T
|
rs768694312
|
0.00022
|
NM_025136.4(OPA3):c.*1091C>G
|
rs557691359
|
0.00021
|
NM_025136.4(OPA3):c.*3891C>T
|
rs752997579
|
0.00021
|
NM_025136.4(OPA3):c.*5570C>T
|
rs766783593
|
0.00021
|
NM_025136.4(OPA3):c.*5739C>T
|
rs375835737
|
0.00020
|
NM_025136.4(OPA3):c.*5013A>G
|
rs780964248
|
0.00019
|
NM_025136.4(OPA3):c.*6072A>G
|
rs576104602
|
0.00019
|
NM_025136.4(OPA3):c.*3278C>T
|
rs770317628
|
0.00018
|
NM_025136.4(OPA3):c.*5597C>T
|
rs560019290
|
0.00018
|
NM_025136.4(OPA3):c.*5923G>A
|
rs149788703
|
0.00017
|
NM_025136.4(OPA3):c.*6626G>A
|
rs139757997
|
0.00017
|
NC_000019.10:g.45529183T>A
|
rs201888844
|
0.00016
|
NM_025136.4(OPA3):c.*3442A>G
|
rs138449967
|
0.00015
|
NM_025136.4(OPA3):c.*1018A>G
|
rs534682712
|
0.00014
|
NM_025136.4(OPA3):c.*5045C>T
|
rs573380409
|
0.00014
|
NM_025136.4(OPA3):c.*649C>T
|
rs886054537
|
0.00014
|
NM_025136.4(OPA3):c.*5258A>G
|
rs886054512
|
0.00011
|
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
|
NC_000019.10:g.45529193A>G
|
rs535476484
|
0.00008
|
NM_025136.4(OPA3):c.*3644C>T
|
rs914226398
|
0.00008
|
NM_025136.4(OPA3):c.*4521G>A
|
rs886054521
|
0.00008
|
NM_025136.4(OPA3):c.*5873C>T
|
rs886054509
|
0.00008
|
NM_025136.4(OPA3):c.*6361G>A
|
rs1020767023
|
0.00007
|
NM_025136.4(OPA3):c.*821A>T
|
rs886054536
|
0.00007
|
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_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_025136.4(OPA3):c.*2089T>C
|
rs886054529
|
0.00004
|
NM_025136.4(OPA3):c.*3845C>T
|
rs886054525
|
0.00004
|
NM_025136.4(OPA3):c.*6125G>A
|
rs780617440
|
0.00004
|
NM_025136.4(OPA3):c.*6570G>C
|
rs773109015
|
0.00004
|
NM_025136.4(OPA3):c.*761C>T
|
rs1020788721
|
0.00004
|
NM_025136.4(OPA3):c.*922G>T
|
rs886054535
|
0.00004
|
NM_025136.4(OPA3):c.303C>T (p.Tyr101=)
|
rs752010426
|
0.00004
|
NM_025136.4(OPA3):c.372C>A (p.Asp124Glu)
|
rs755348694
|
0.00004
|
NM_025136.4(OPA3):c.*1214G>A
|
rs368652706
|
0.00003
|
NM_025136.4(OPA3):c.*1693C>T
|
rs904110306
|
0.00003
|
NM_025136.4(OPA3):c.*3128C>G
|
rs143702010
|
0.00003
|
NM_025136.4(OPA3):c.*3754C>T
|
rs981647131
|
0.00003
|
NM_025136.4(OPA3):c.143-5C>A
|
rs770452409
|
0.00003
|
NM_025136.4(OPA3):c.526G>A (p.Ala176Thr)
|
rs755841329
|
0.00003
|
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.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
|
NC_000019.10:g.45529065G>A
|
rs1162879805
|
0.00001
|
NM_001017989.3(OPA3):c.481G>A (p.Ala161Thr)
|
rs1445523438
|
0.00001
|
NM_025136.4(OPA3):c.*1052C>T
|
rs539341907
|
0.00001
|
NM_025136.4(OPA3):c.*1063G>A
|
rs1384983234
|
0.00001
|
NM_025136.4(OPA3):c.*1193A>G
|
rs1969345485
|
0.00001
|
NM_025136.4(OPA3):c.*1496C>T
|
rs938973035
|
0.00001
|
NM_025136.4(OPA3):c.*1799A>G
|
rs886054530
|
0.00001
|
NM_025136.4(OPA3):c.*2041C>G
|
rs1200054696
|
0.00001
|
NM_025136.4(OPA3):c.*2620C>A
|
rs528208456
|
0.00001
|
NM_025136.4(OPA3):c.*322A>G
|
rs886054539
|
0.00001
|
NM_025136.4(OPA3):c.*3472G>A
|
rs1305422353
|
0.00001
|
NM_025136.4(OPA3):c.*3581C>T
|
rs576070088
|
0.00001
|
NM_025136.4(OPA3):c.*4464G>T
|
rs886054522
|
0.00001
|
NM_025136.4(OPA3):c.*4763C>A
|
rs549495140
|
0.00001
|
NM_025136.4(OPA3):c.*5888C>T
|
rs886054508
|
0.00001
|
NM_025136.4(OPA3):c.*6046G>A
|
rs1010630541
|
0.00001
|
NM_025136.4(OPA3):c.*6461C>T
|
rs886054505
|
0.00001
|
NM_025136.4(OPA3):c.*6773G>T
|
rs886054504
|
0.00001
|
NM_025136.4(OPA3):c.*7072A>T
|
rs1247746346
|
0.00001
|
NM_025136.4(OPA3):c.*7183G>A
|
rs941194280
|
0.00001
|
NM_025136.4(OPA3):c.120T>C (p.Tyr40=)
|
rs752657560
|
0.00001
|
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)
|
rs763083098
|
0.00001
|
NM_025136.4(OPA3):c.142+10A>T
|
rs539476253
|
0.00001
|
NM_025136.4(OPA3):c.143-6C>T
|
rs760030315
|
0.00001
|
NM_025136.4(OPA3):c.143-9C>G
|
rs1342185871
|
0.00001
|
NM_025136.4(OPA3):c.197C>T (p.Thr66Met)
|
rs753129998
|
0.00001
|
NM_025136.4(OPA3):c.222G>A (p.Glu74=)
|
rs1241138154
|
0.00001
|
NM_025136.4(OPA3):c.224C>T (p.Ala75Val)
|
rs769541845
|
0.00001
|
NM_025136.4(OPA3):c.237G>C (p.Leu79=)
|
rs943536843
|
0.00001
|
NM_025136.4(OPA3):c.252G>A (p.Leu84=)
|
rs757297634
|
0.00001
|
NM_025136.4(OPA3):c.255C>T (p.Gly85=)
|
rs951025429
|
0.00001
|
NM_025136.4(OPA3):c.305_322dup (p.Gln107_Gln108insArgArgHisGlnAlaGln)
|
rs1599964564
|
0.00001
|
NM_025136.4(OPA3):c.354C>T (p.Ala118=)
|
rs745763712
|
0.00001
|
NM_025136.4(OPA3):c.355T>A (p.Trp119Arg)
|
rs375471439
|
0.00001
|
NM_025136.4(OPA3):c.373G>A (p.Glu125Lys)
|
rs1346674058
|
0.00001
|
NM_025136.4(OPA3):c.381C>T (p.Gly127=)
|
rs1405668670
|
0.00001
|
NM_025136.4(OPA3):c.404C>G (p.Ala135Gly)
|
rs372640359
|
0.00001
|
NM_025136.4(OPA3):c.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.540G>C (p.Ter180Tyr)
|
rs774281852
|
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
|
NC_000019.10:g.(?_45584613)_(45584774_?)del
|
|
|
NC_000019.10:g.45529185C>T
|
rs566450630
|
|
NC_000019.9:g.(?_46056772)_(46057189_?)del
|
|
|
NC_000019.9:g.(?_46056772)_(46088022_?)del
|
|
|
NM_001017989.3(OPA3):c.445del (p.Leu149fs)
|
rs780299639
|
|
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs)
|
rs1599947052
|
|
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs)
|
rs1555730141
|
|
NM_025136.4(OPA3):c.*1076A>G
|
rs886054533
|
|
NM_025136.4(OPA3):c.*1254A>C
|
rs886054532
|
|
NM_025136.4(OPA3):c.*1478A>G
|
rs886054531
|
|
NM_025136.4(OPA3):c.*1761A>T
|
rs141446737
|
|
NM_025136.4(OPA3):c.*2188G>A
|
rs1969330324
|
|
NM_025136.4(OPA3):c.*2198C>T
|
rs1969330113
|
|
NM_025136.4(OPA3):c.*2590G>T
|
rs886054527
|
|
NM_025136.4(OPA3):c.*2662G>A
|
rs1969322157
|
|
NM_025136.4(OPA3):c.*2702G>T
|
rs886054526
|
|
NM_025136.4(OPA3):c.*2726G>C
|
rs993813343
|
|
NM_025136.4(OPA3):c.*2859A>T
|
rs534780094
|
|
NM_025136.4(OPA3):c.*2896G>A
|
rs190488484
|
|
NM_025136.4(OPA3):c.*2964T>C
|
rs1969317127
|
|
NM_025136.4(OPA3):c.*302C>T
|
rs886054540
|
|
NM_025136.4(OPA3):c.*3156G>T
|
rs1969314043
|
|
NM_025136.4(OPA3):c.*3245C>T
|
rs1969312880
|
|
NM_025136.4(OPA3):c.*3295C>G
|
rs1969311980
|
|
NM_025136.4(OPA3):c.*3358C>G
|
rs965480314
|
|
NM_025136.4(OPA3):c.*3496C>G
|
rs749084024
|
|
NM_025136.4(OPA3):c.*3570C>T
|
rs1969307390
|
|
NM_025136.4(OPA3):c.*3669G>T
|
rs1024454874
|
|
NM_025136.4(OPA3):c.*3804G>A
|
rs890552307
|
|
NM_025136.4(OPA3):c.*4241C>T
|
rs375276027
|
|
NM_025136.4(OPA3):c.*4419C>T
|
rs886054523
|
|
NM_025136.4(OPA3):c.*4771C>G
|
rs972332094
|
|
NM_025136.4(OPA3):c.*4857A>T
|
rs4803833
|
|
NM_025136.4(OPA3):c.*4969C>G
|
rs886054513
|
|
NM_025136.4(OPA3):c.*4975C>T
|
rs567309052
|
|
NM_025136.4(OPA3):c.*545G>T
|
rs886054538
|
|
NM_025136.4(OPA3):c.*5774G>C
|
rs886054510
|
|
NM_025136.4(OPA3):c.*5774G>T
|
rs886054510
|
|
NM_025136.4(OPA3):c.*6289A>G
|
rs182293743
|
|
NM_025136.4(OPA3):c.*6766C>T
|
rs978118927
|
|
NM_025136.4(OPA3):c.*690G>T
|
rs1969355536
|
|
NM_025136.4(OPA3):c.*713C>G
|
rs143735864
|
|
NM_025136.4(OPA3):c.103G>T (p.Glu35Ter)
|
|
|
NM_025136.4(OPA3):c.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.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+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.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.182T>C (p.Met61Thr)
|
rs1052079541
|
|
NM_025136.4(OPA3):c.195C>A (p.Gly65=)
|
|
|
NM_025136.4(OPA3):c.198G>A (p.Thr66=)
|
|
|
NM_025136.4(OPA3):c.201C>T (p.Val67=)
|
rs539986269
|
|
NM_025136.4(OPA3):c.201del (p.Ile68fs)
|
|
|
NM_025136.4(OPA3):c.204C>A (p.Ile68=)
|
|
|
NM_025136.4(OPA3):c.206A>C (p.Lys69Thr)
|
rs760083523
|
|
NM_025136.4(OPA3):c.206_258del (p.Lys69fs)
|
rs2122440115
|
|
NM_025136.4(OPA3):c.210G>A (p.Pro70=)
|
|
|
NM_025136.4(OPA3):c.212T>C (p.Leu71Pro)
|
|
|
NM_025136.4(OPA3):c.213G>A (p.Leu71=)
|
rs1258779986
|
|
NM_025136.4(OPA3):c.216C>T (p.Asn72=)
|
rs772750356
|
|
NM_025136.4(OPA3):c.217dup (p.Glu73fs)
|
rs1555732963
|
|
NM_025136.4(OPA3):c.220G>A (p.Glu74Lys)
|
|
|
NM_025136.4(OPA3):c.220G>T (p.Glu74Ter)
|
|
|
NM_025136.4(OPA3):c.225G>A (p.Ala75=)
|
|
|
NM_025136.4(OPA3):c.226G>T (p.Ala76Ser)
|
|
|
NM_025136.4(OPA3):c.228A>T (p.Ala76=)
|
|
|
NM_025136.4(OPA3):c.235C>G (p.Leu79Val)
|
rs886037828
|
|
NM_025136.4(OPA3):c.235C>T (p.Leu79=)
|
rs886037828
|
|
NM_025136.4(OPA3):c.237G>A (p.Leu79=)
|
rs943536843
|
|
NM_025136.4(OPA3):c.237G>T (p.Leu79=)
|
|
|
NM_025136.4(OPA3):c.238G>A (p.Gly80Ser)
|
|
|
NM_025136.4(OPA3):c.239G>T (p.Gly80Val)
|
rs2122440257
|
|
NM_025136.4(OPA3):c.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.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.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.277G>A (p.Gly93Ser)
|
rs80356524
|
|
NM_025136.4(OPA3):c.279C>T (p.Gly93=)
|
rs1165747962
|
|
NM_025136.4(OPA3):c.282C>A (p.Gly94=)
|
|
|
NM_025136.4(OPA3):c.282C>T (p.Gly94=)
|
rs1478895044
|
|
NM_025136.4(OPA3):c.288C>T (p.Cys96=)
|
|
|
NM_025136.4(OPA3):c.289C>G (p.Leu97Val)
|
|
|
NM_025136.4(OPA3):c.289C>T (p.Leu97=)
|
rs755295420
|
|
NM_025136.4(OPA3):c.291A>G (p.Leu97=)
|
rs755689286
|
|
NM_025136.4(OPA3):c.293T>G (p.Val98Gly)
|
rs967310075
|
|
NM_025136.4(OPA3):c.296T>G (p.Leu99Arg)
|
rs1555732924
|
|
NM_025136.4(OPA3):c.301T>C (p.Tyr101His)
|
rs1969377552
|
|
NM_025136.4(OPA3):c.304T>G (p.Trp102Gly)
|
|
|
NM_025136.4(OPA3):c.308G>A (p.Arg103His)
|
|
|
NM_025136.4(OPA3):c.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.327C>G (p.Arg109=)
|
rs2122439641
|
|
NM_025136.4(OPA3):c.337G>A (p.Glu113Lys)
|
|
|
NM_025136.4(OPA3):c.342G>A (p.Glu114=)
|
|
|
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.410A>C (p.Gln137Pro)
|
rs372161100
|
|
NM_025136.4(OPA3):c.414G>A (p.Ala138=)
|
rs1969373306
|
|
NM_025136.4(OPA3):c.414G>T (p.Ala138=)
|
|
|
NM_025136.4(OPA3):c.417G>A (p.Gln139=)
|
rs2122438987
|
|
NM_025136.4(OPA3):c.417G>C (p.Gln139His)
|
|
|
NM_025136.4(OPA3):c.423_424delinsCT (p.Gln141_Ala142delinsHisSer)
|
|
|
NM_025136.4(OPA3):c.424G>C (p.Ala142Pro)
|
rs535683352
|
|
NM_025136.4(OPA3):c.425C>T (p.Ala142Val)
|
rs2122438899
|
|
NM_025136.4(OPA3):c.427G>C (p.Ala143Pro)
|
|
|
NM_025136.4(OPA3):c.429G>A (p.Ala143=)
|
rs745373208
|
|
NM_025136.4(OPA3):c.429_430delinsAA (p.Pro144Thr)
|
|
|
NM_025136.4(OPA3):c.431C>A (p.Pro144Gln)
|
rs775398472
|
|
NM_025136.4(OPA3):c.431C>G (p.Pro144Arg)
|
|
|
NM_025136.4(OPA3):c.433C>T (p.Pro145Ser)
|
|
|
NM_025136.4(OPA3):c.434C>T (p.Pro145Leu)
|
|
|
NM_025136.4(OPA3):c.435A>G (p.Pro145=)
|
|
|
NM_025136.4(OPA3):c.436C>A (p.Gln146Lys)
|
|
|
NM_025136.4(OPA3):c.437A>G (p.Gln146Arg)
|
|
|
NM_025136.4(OPA3):c.439_440del (p.Gly147fs)
|
|
|
NM_025136.4(OPA3):c.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.462A>C (p.Thr154=)
|
rs2122438569
|
|
NM_025136.4(OPA3):c.462A>G (p.Thr154=)
|
|
|
NM_025136.4(OPA3):c.468G>C (p.Leu156=)
|
rs2122438534
|
|
NM_025136.4(OPA3):c.469C>G (p.Gln157Glu)
|
|
|
NM_025136.4(OPA3):c.471A>G (p.Gln157=)
|
|
|
NM_025136.4(OPA3):c.472G>A (p.Glu158Lys)
|
|
|
NM_025136.4(OPA3):c.474G>A (p.Glu158=)
|
rs1969371102
|
|
NM_025136.4(OPA3):c.477G>C (p.Val159=)
|
|
|
NM_025136.4(OPA3):c.477G>T (p.Val159=)
|
|
|
NM_025136.4(OPA3):c.483C>G (p.Ala161=)
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rs2122438328
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NM_025136.4(OPA3):c.484C>G (p.Gln162Glu)
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NM_025136.4(OPA3):c.484C>T (p.Gln162Ter)
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NM_025136.4(OPA3):c.489C>T (p.Leu163=)
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NM_025136.4(OPA3):c.494A>G (p.Asn165Ser)
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NM_025136.4(OPA3):c.501C>T (p.Gly167=)
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NM_025136.4(OPA3):c.502C>T (p.Arg168Trp)
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rs750946088
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NM_025136.4(OPA3):c.504G>A (p.Arg168=)
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NM_025136.4(OPA3):c.504G>T (p.Arg168=)
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NM_025136.4(OPA3):c.507C>G (p.Ser169=)
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rs757829968
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NM_025136.4(OPA3):c.513C>T (p.Ser171=)
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NM_025136.4(OPA3):c.514C>T (p.His172Tyr)
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rs1293731096
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NM_025136.4(OPA3):c.516C>T (p.His172=)
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rs1427115632
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NM_025136.4(OPA3):c.517G>A (p.Ala173Thr)
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NM_025136.4(OPA3):c.522G>A (p.Val174=)
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rs1969369481
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NM_025136.4(OPA3):c.531C>T (p.Ser177=)
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rs2122437966
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NM_025136.4(OPA3):c.532A>G (p.Lys178Glu)
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rs767372876
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NM_025136.4(OPA3):c.84G>A (p.Lys28=)
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NM_025136.4(OPA3):c.87G>T (p.Glu29Asp)
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rs1194417590
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NM_025136.4(OPA3):c.89C>T (p.Ala30Val)
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NM_025136.4(OPA3):c.90C>A (p.Ala30=)
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rs1600010139
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NM_025136.4(OPA3):c.91G>C (p.Ala31Pro)
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NM_025136.4(OPA3):c.94C>T (p.Arg32Cys)
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NM_025136.4(OPA3):c.99A>G (p.Arg33=)
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