NM_130837.3(OPA1):c.1035+4T>C
|
rs166850
|
0.88294
|
NM_130837.3(OPA1):c.844-135G>A
|
rs3736198
|
0.50229
|
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn)
|
rs7624750
|
0.50224
|
NM_130837.3(OPA1):c.556+178G>T
|
rs10937593
|
0.50218
|
NM_130837.3(OPA1):c.678+296G>A
|
rs9817704
|
0.50214
|
NM_130837.3(OPA1):c.2274T>C (p.Ala758=)
|
rs9851685
|
0.50117
|
NM_130837.3(OPA1):c.2983+207A>G
|
rs13070610
|
0.49446
|
NM_130837.3(OPA1):c.2779-142T>C
|
rs10937594
|
0.47278
|
NM_130837.3(OPA1):c.1609-179G>A
|
rs2291373
|
0.46997
|
NM_130837.3(OPA1):c.1035+32T>C
|
rs10451941
|
0.44363
|
NM_130837.3(OPA1):c.611-233T>C
|
rs9832709
|
0.43335
|
NM_130837.3(OPA1):c.449-121A>G
|
rs7646539
|
0.43321
|
NM_130837.3(OPA1):c.679-120C>G
|
rs6791301
|
0.43277
|
NM_130837.3(OPA1):c.1478-147C>T
|
rs1016226
|
0.43267
|
NM_130837.3(OPA1):c.1608+295G>A
|
rs11916478
|
0.42975
|
NM_130837.3(OPA1):c.2983+206C>T
|
rs13070791
|
0.42899
|
NM_130837.3(OPA1):c.2872+25T>A
|
rs10937595
|
0.42744
|
NM_130837.3(OPA1):c.2441-234G>A
|
rs28457829
|
0.42710
|
NM_130837.3(OPA1):c.1754+265A>G
|
rs115569671
|
0.22318
|
NM_130837.3(OPA1):c.2984-126T>C
|
rs35661865
|
0.12197
|
NM_130837.3(OPA1):c.2441-98T>C
|
rs34558265
|
0.11790
|
NM_130837.3(OPA1):c.1754+106G>A
|
rs34222475
|
0.11760
|
NM_130837.3(OPA1):c.2332-323G>A
|
rs71316211
|
0.11744
|
NM_130837.3(OPA1):c.1935+16T>G
|
rs9831772
|
0.07649
|
NM_130837.3(OPA1):c.1609-75T>C
|
rs77539393
|
0.07331
|
NM_130837.3(OPA1):c.1608+23G>A
|
rs77303706
|
0.06432
|
NM_130837.3(OPA1):c.2178+253C>G
|
rs76855292
|
0.06098
|
NM_130837.3(OPA1):c.2872+178C>T
|
rs11928971
|
0.05948
|
NM_130837.3(OPA1):c.2179-81G>T
|
rs75116447
|
0.03783
|
NM_130837.3(OPA1):c.2661+306C>T
|
rs79665962
|
0.03765
|
NM_130837.3(OPA1):c.2778+11C>G
|
rs111688935
|
0.03759
|
NM_130837.3(OPA1):c.2984-250G>A
|
rs6776228
|
0.03582
|
NM_130837.3(OPA1):c.2983+23T>C
|
rs77034068
|
0.03253
|
NM_130837.3(OPA1):c.844-279G>A
|
rs3736197
|
0.03062
|
NM_130837.3(OPA1):c.1478-141G>A
|
rs112831553
|
0.03060
|
NM_130837.3(OPA1):c.449-21A>G
|
rs75213840
|
0.02640
|
NM_130837.3(OPA1):c.790-286T>C
|
rs75119504
|
0.02638
|
NM_130837.3(OPA1):c.351+180A>G
|
rs75414244
|
0.02637
|
NM_130837.3(OPA1):c.32+286C>T
|
rs6781575
|
0.02625
|
NM_130837.3(OPA1):c.1035+37A>C
|
rs76253392
|
0.02623
|
NM_130837.3(OPA1):c.629C>T (p.Ala210Val)
|
rs34307082
|
0.02411
|
NM_130837.3(OPA1):c.1935+281A>G
|
rs76514410
|
0.02052
|
NM_130837.3(OPA1):c.351+275G>C
|
rs116457270
|
0.01710
|
NM_130837.3(OPA1):c.2983+128C>T
|
rs112787334
|
0.01207
|
NM_130837.3(OPA1):c.2331+115G>T
|
rs150732301
|
0.01129
|
NM_130837.3(OPA1):c.1871-66C>A
|
rs73888660
|
0.01075
|
NM_130837.3(OPA1):c.1935+47T>A
|
rs144015601
|
0.00834
|
NM_130837.3(OPA1):c.2961C>T (p.Arg987=)
|
rs35540805
|
0.00758
|
NM_130837.3(OPA1):c.2332-265T>G
|
rs12635939
|
0.00755
|
NM_130837.3(OPA1):c.2779-149T>C
|
rs74450886
|
0.00754
|
NM_130837.3(OPA1):c.2049A>G (p.Val683=)
|
rs73069703
|
0.00753
|
NM_130837.3(OPA1):c.678+235T>C
|
rs73067661
|
0.00744
|
NM_130837.3(OPA1):c.2973G>A (p.Ala991=)
|
rs117475774
|
0.00742
|
NM_130837.3(OPA1):c.1477+32A>G
|
rs116806904
|
0.00724
|
NM_130837.3(OPA1):c.1231-53T>G
|
rs2306720
|
0.00723
|
NM_130837.3(OPA1):c.2778+258A>T
|
rs58859883
|
0.00722
|
NM_130837.3(OPA1):c.1150-161A>G
|
rs57034161
|
0.00614
|
NM_130837.3(OPA1):c.1306-109A>T
|
rs115482686
|
0.00610
|
NM_130837.3(OPA1):c.1608+290C>G
|
rs59046055
|
0.00607
|
NM_130837.3(OPA1):c.679-8C>T
|
rs114348597
|
0.00589
|
NM_130837.3(OPA1):c.420G>T (p.Val140=)
|
rs35801538
|
0.00577
|
NM_130837.3(OPA1):c.1306-55T>A
|
rs139613408
|
0.00574
|
NM_130837.3(OPA1):c.1149+178G>A
|
rs139627835
|
0.00548
|
NM_130837.3(OPA1):c.1377+38A>T
|
rs145646386
|
0.00532
|
NM_130837.3(OPA1):c.2779-290A>G
|
rs149979555
|
0.00501
|
NM_130837.3(OPA1):c.1035+324G>A
|
rs115055890
|
0.00477
|
NM_130837.3(OPA1):c.2441-134G>C
|
rs375372517
|
0.00450
|
NM_130837.3(OPA1):c.1608+138G>A
|
rs4638913
|
0.00417
|
NM_130837.3(OPA1):c.843+274A>G
|
rs142161446
|
0.00416
|
NM_130837.3(OPA1):c.1342A>C (p.Arg448=)
|
rs149752576
|
0.00229
|
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys)
|
rs75414918
|
0.00229
|
NM_130837.3(OPA1):c.321G>A (p.Ser107=)
|
rs117888848
|
0.00212
|
NM_130837.3(OPA1):c.2179-23T>C
|
rs76076252
|
0.00205
|
NM_130837.3(OPA1):c.2179-24T>G
|
rs78911544
|
0.00205
|
NM_130837.3(OPA1):c.1236A>G (p.Ala412=)
|
rs150807064
|
0.00179
|
NM_130837.3(OPA1):c.1681+23A>G
|
rs200416825
|
0.00174
|
NM_130837.3(OPA1):c.2332-19C>A
|
rs77355463
|
0.00155
|
NM_130837.3(OPA1):c.2872+15G>C
|
rs199763700
|
0.00136
|
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys)
|
rs151103940
|
0.00116
|
NM_130837.3(OPA1):c.2880A>G (p.Arg960=)
|
rs144898877
|
0.00109
|
NM_130837.3(OPA1):c.610+33A>T
|
rs79606277
|
0.00106
|
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala)
|
rs145565705
|
0.00103
|
NM_130837.3(OPA1):c.949-11A>C
|
rs376681712
|
0.00094
|
NM_130837.3(OPA1):c.748G>A (p.Ala250Thr)
|
rs143918255
|
0.00085
|
NM_130837.3(OPA1):c.254G>A (p.Arg85His)
|
rs35630194
|
0.00068
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
|
NM_130837.3(OPA1):c.32+14C>T
|
rs201927764
|
0.00054
|
NM_130837.3(OPA1):c.1302T>G (p.Pro434=)
|
rs139861334
|
0.00050
|
NM_130837.3(OPA1):c.2610C>T (p.Thr870=)
|
rs139934030
|
0.00042
|
NM_130837.3(OPA1):c.2421G>T (p.Leu807=)
|
rs148047706
|
0.00041
|
NM_130837.3(OPA1):c.2984-4A>G
|
rs184273607
|
0.00039
|
NM_130837.3(OPA1):c.1378-25G>C
|
rs148392527
|
0.00034
|
NM_130837.3(OPA1):c.1936-9A>G
|
rs367798637
|
0.00034
|
NM_130837.3(OPA1):c.222A>T (p.Lys74Asn)
|
rs114157340
|
0.00029
|
NM_130837.3(OPA1):c.921C>T (p.Asp307=)
|
rs147242797
|
0.00029
|
NM_130837.3(OPA1):c.2088G>A (p.Ala696=)
|
rs138114609
|
0.00028
|
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe)
|
rs200243596
|
0.00022
|
NM_130837.3(OPA1):c.3027A>C (p.Glu1009Asp)
|
rs189036094
|
0.00021
|
NM_130837.3(OPA1):c.2592T>C (p.Leu864=)
|
rs145999595
|
0.00020
|
NM_130837.3(OPA1):c.2441-4dup
|
rs761286590
|
0.00019
|
NM_130837.3(OPA1):c.284C>T (p.Thr95Met)
|
rs201214736
|
0.00019
|
NM_130837.3(OPA1):c.88C>T (p.Leu30=)
|
rs185976555
|
0.00019
|
NM_130837.3(OPA1):c.1700T>C (p.Ile567Thr)
|
rs148834015
|
0.00018
|
NM_130837.3(OPA1):c.2506C>T (p.Arg836Trp)
|
rs190235251
|
0.00017
|
NM_130837.3(OPA1):c.2521-16T>A
|
rs202098728
|
0.00017
|
NM_130837.3(OPA1):c.70A>G (p.Ile24Val)
|
rs201520438
|
0.00017
|
NM_130837.3(OPA1):c.1293C>T (p.Thr431=)
|
rs111488647
|
0.00016
|
NM_130837.3(OPA1):c.530G>T (p.Ser177Ile)
|
rs150279202
|
0.00016
|
NM_130837.3(OPA1):c.344C>T (p.Ala115Val)
|
rs200983556
|
0.00013
|
NM_130837.3(OPA1):c.2099A>G (p.Asn700Ser)
|
rs142694017
|
0.00009
|
NM_130837.3(OPA1):c.211C>T (p.Arg71Cys)
|
rs368488165
|
0.00009
|
NM_130837.3(OPA1):c.790-4T>A
|
rs374509936
|
0.00009
|
NM_130837.3(OPA1):c.2227C>T (p.Pro743Ser)
|
rs779383230
|
0.00008
|
NM_130837.3(OPA1):c.2636G>A (p.Arg879Gln)
|
rs200412464
|
0.00008
|
NM_130837.3(OPA1):c.678+11A>G
|
rs371781817
|
0.00008
|
NM_130837.3(OPA1):c.2319G>A (p.Ala773=)
|
rs144690080
|
0.00007
|
NM_130837.3(OPA1):c.2662-18T>C
|
rs368700140
|
0.00007
|
NM_130837.3(OPA1):c.2709A>G (p.Thr903=)
|
rs150736794
|
0.00007
|
NM_130837.3(OPA1):c.1377+10T>C
|
rs200114656
|
0.00006
|
NM_130837.3(OPA1):c.1877G>A (p.Arg626His)
|
rs140606054
|
0.00006
|
NM_130837.3(OPA1):c.1934G>A (p.Arg645Gln)
|
rs147077380
|
0.00006
|
NM_130837.3(OPA1):c.678+13G>C
|
rs561115644
|
0.00006
|
NM_130837.3(OPA1):c.869G>A (p.Arg290Gln)
|
rs765118029
|
0.00006
|
NM_130837.3(OPA1):c.2331+10T>C
|
rs371096629
|
0.00005
|
NM_130837.3(OPA1):c.2436G>A (p.Lys812=)
|
rs765782153
|
0.00005
|
NM_130837.3(OPA1):c.2544T>A (p.Asn848Lys)
|
rs758248456
|
0.00005
|
NM_130837.3(OPA1):c.351+13T>G
|
rs763656200
|
0.00005
|
NM_130837.3(OPA1):c.557-5C>T
|
rs777338418
|
0.00005
|
NM_130837.3(OPA1):c.592G>A (p.Asp198Asn)
|
rs535724954
|
0.00005
|
NM_130837.3(OPA1):c.737C>T (p.Ala246Val)
|
rs147094219
|
0.00005
|
NM_130837.3(OPA1):c.844-4G>A
|
rs377043223
|
0.00005
|
NM_130837.3(OPA1):c.1016C>T (p.Thr339Met)
|
rs141326740
|
0.00004
|
NM_130837.3(OPA1):c.1036-8G>T
|
rs367618769
|
0.00004
|
NM_130837.3(OPA1):c.1094A>G (p.Gln365Arg)
|
rs770966290
|
0.00004
|
NM_130837.3(OPA1):c.1871-15T>C
|
rs761388274
|
0.00004
|
NM_130837.3(OPA1):c.1944A>G (p.Leu648=)
|
rs781571640
|
0.00004
|
NM_130837.3(OPA1):c.2213G>A (p.Arg738His)
|
rs542540811
|
0.00004
|
NM_130837.3(OPA1):c.2520+13A>G
|
rs371943802
|
0.00004
|
NM_130837.3(OPA1):c.2531A>G (p.Asn844Ser)
|
rs200428940
|
0.00004
|
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys)
|
rs372435892
|
0.00004
|
NM_130837.3(OPA1):c.2874T>C (p.Val958=)
|
rs773500478
|
0.00004
|
NM_130837.3(OPA1):c.2967A>C (p.Gln989His)
|
rs369942555
|
0.00004
|
NM_130837.3(OPA1):c.3048A>G (p.Ter1016=)
|
rs143929819
|
0.00004
|
NM_130837.3(OPA1):c.339C>T (p.Tyr113=)
|
rs779836454
|
0.00004
|
NM_130837.3(OPA1):c.381G>A (p.Pro127=)
|
rs774996101
|
0.00004
|
NM_130837.3(OPA1):c.448+15C>T
|
rs766139810
|
0.00004
|
NM_130837.3(OPA1):c.506_508del (p.Phe169_Asp170delinsTyr)
|
rs760263649
|
0.00004
|
NM_130837.3(OPA1):c.534A>G (p.Leu178=)
|
rs758901451
|
0.00004
|
NM_130837.3(OPA1):c.557G>A (p.Gly186Asp)
|
rs748799408
|
0.00004
|
NM_130837.3(OPA1):c.617C>T (p.Pro206Leu)
|
rs772090345
|
0.00004
|
NM_130837.3(OPA1):c.619G>A (p.Glu207Lys)
|
rs569675223
|
0.00004
|
NM_130837.3(OPA1):c.800A>G (p.Lys267Arg)
|
rs1329385935
|
0.00004
|
NM_130837.3(OPA1):c.87A>G (p.Pro29=)
|
rs765574821
|
0.00004
|
NM_130837.3(OPA1):c.1149+15C>T
|
rs375377112
|
0.00003
|
NM_130837.3(OPA1):c.1149+16G>A
|
rs767790436
|
0.00003
|
NM_130837.3(OPA1):c.1193A>C (p.Asp398Ala)
|
rs756981921
|
0.00003
|
NM_130837.3(OPA1):c.1230+20G>A
|
rs938640104
|
0.00003
|
NM_130837.3(OPA1):c.1319A>G (p.Asn440Ser)
|
rs748519009
|
0.00003
|
NM_130837.3(OPA1):c.1557C>T (p.Phe519=)
|
rs779207157
|
0.00003
|
NM_130837.3(OPA1):c.187T>A (p.Ser63Thr)
|
rs777179811
|
0.00003
|
NM_130837.3(OPA1):c.1935+18G>A
|
rs776296586
|
0.00003
|
NM_130837.3(OPA1):c.2045G>A (p.Arg682Lys)
|
rs772040791
|
0.00003
|
NM_130837.3(OPA1):c.2109T>C (p.Thr703=)
|
rs373522599
|
0.00003
|
NM_130837.3(OPA1):c.2346C>T (p.His782=)
|
rs777686152
|
0.00003
|
NM_130837.3(OPA1):c.2440+7G>A
|
rs1460816557
|
0.00003
|
NM_130837.3(OPA1):c.245A>G (p.Tyr82Cys)
|
rs749063844
|
0.00003
|
NM_130837.3(OPA1):c.2683G>A (p.Val895Ile)
|
rs905919862
|
0.00003
|
NM_130837.3(OPA1):c.2818C>T (p.Arg940Cys)
|
rs927450242
|
0.00003
|
NM_130837.3(OPA1):c.33-8T>C
|
rs370303596
|
0.00003
|
NM_130837.3(OPA1):c.448+50A>G
|
rs377239493
|
0.00003
|
NM_130837.3(OPA1):c.542A>G (p.Asp181Gly)
|
rs138884045
|
0.00003
|
NM_130837.3(OPA1):c.611-9A>G
|
rs372157755
|
0.00003
|
NM_130837.3(OPA1):c.618G>A (p.Pro206=)
|
rs775620290
|
0.00003
|
NM_130837.3(OPA1):c.1035+20T>C
|
rs368025705
|
0.00002
|
NM_130837.3(OPA1):c.1166G>A (p.Gly389Asp)
|
rs863224133
|
0.00002
|
NM_130837.3(OPA1):c.1286G>A (p.Gly429Asp)
|
rs146003075
|
0.00002
|
NM_130837.3(OPA1):c.1380T>C (p.Thr460=)
|
rs749660244
|
0.00002
|
NM_130837.3(OPA1):c.1391G>A (p.Gly464Asp)
|
rs752296610
|
0.00002
|
NM_130837.3(OPA1):c.1591G>A (p.Val531Ile)
|
rs779722414
|
0.00002
|
NM_130837.3(OPA1):c.1690T>C (p.Ser564Pro)
|
rs1467607281
|
0.00002
|
NM_130837.3(OPA1):c.1719T>C (p.Tyr573=)
|
rs767154051
|
0.00002
|
NM_130837.3(OPA1):c.2028A>G (p.Gln676=)
|
rs773826671
|
0.00002
|
NM_130837.3(OPA1):c.215A>C (p.Lys72Thr)
|
rs532878175
|
0.00002
|
NM_130837.3(OPA1):c.2385A>G (p.Gln795=)
|
rs772177326
|
0.00002
|
NM_130837.3(OPA1):c.2441-19A>G
|
rs370831273
|
0.00002
|
NM_130837.3(OPA1):c.2644G>A (p.Glu882Lys)
|
rs765208285
|
0.00002
|
NM_130837.3(OPA1):c.2812A>G (p.Ile938Val)
|
rs149866497
|
0.00002
|
NM_130837.3(OPA1):c.2873-6A>T
|
rs1209769957
|
0.00002
|
NM_130837.3(OPA1):c.289C>G (p.Leu97Val)
|
rs369233231
|
0.00002
|
NM_130837.3(OPA1):c.2959C>T (p.Arg987Cys)
|
rs145710079
|
0.00002
|
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)
|
rs375733283
|
0.00002
|
NM_130837.3(OPA1):c.305A>G (p.Tyr102Cys)
|
rs530896300
|
0.00002
|
NM_130837.3(OPA1):c.351+8T>C
|
rs1016013021
|
0.00002
|
NM_130837.3(OPA1):c.556+2T>G
|
rs762390227
|
0.00002
|
NM_130837.3(OPA1):c.679-1G>C
|
rs762321240
|
0.00002
|
NM_130837.3(OPA1):c.706C>A (p.Gln236Lys)
|
rs779375399
|
0.00002
|
NM_130837.3(OPA1):c.715A>T (p.Ile239Phe)
|
rs1407152640
|
0.00002
|
NM_130837.3(OPA1):c.740G>A (p.Arg247His)
|
rs138350727
|
0.00002
|
NM_130837.3(OPA1):c.838A>G (p.Thr280Ala)
|
rs774668971
|
0.00002
|
NM_130837.3(OPA1):c.964A>G (p.Met322Val)
|
rs938874214
|
0.00002
|
NM_130837.3(OPA1):c.*5+1G>T
|
rs1250028962
|
0.00001
|
NM_130837.3(OPA1):c.1036-9T>C
|
rs531187028
|
0.00001
|
NM_130837.3(OPA1):c.1098T>C (p.Ala366=)
|
rs779030198
|
0.00001
|
NM_130837.3(OPA1):c.1100G>A (p.Arg367Gln)
|
rs372878876
|
0.00001
|
NM_130837.3(OPA1):c.1135C>T (p.Arg379Cys)
|
rs552243068
|
0.00001
|
NM_130837.3(OPA1):c.113G>A (p.Arg38Gln)
|
rs866025924
|
0.00001
|
NM_130837.3(OPA1):c.1149+12G>A
|
rs570927442
|
0.00001
|
NM_130837.3(OPA1):c.1150-2A>G
|
rs886041317
|
0.00001
|
NM_130837.3(OPA1):c.1168C>T (p.Pro390Ser)
|
rs1057524630
|
0.00001
|
NM_130837.3(OPA1):c.1176T>C (p.His392=)
|
rs372782168
|
0.00001
|
NM_130837.3(OPA1):c.1230+9A>G
|
rs1274592661
|
0.00001
|
NM_130837.3(OPA1):c.1234G>A (p.Ala412Thr)
|
rs190223702
|
0.00001
|
NM_130837.3(OPA1):c.124C>T (p.His42Tyr)
|
rs145563233
|
0.00001
|
NM_130837.3(OPA1):c.1262G>A (p.Arg421Gln)
|
rs535885178
|
0.00001
|
NM_130837.3(OPA1):c.127T>C (p.Ser43Pro)
|
rs1315189266
|
0.00001
|
NM_130837.3(OPA1):c.1300C>T (p.Pro434Ser)
|
rs762004680
|
0.00001
|
NM_130837.3(OPA1):c.1347G>A (p.Met449Ile)
|
rs377726977
|
0.00001
|
NM_130837.3(OPA1):c.1377+18A>T
|
rs575087238
|
0.00001
|
NM_130837.3(OPA1):c.1377+9A>G
|
rs759086025
|
0.00001
|
NM_130837.3(OPA1):c.1398T>C (p.Ala466=)
|
rs886043473
|
0.00001
|
NM_130837.3(OPA1):c.1478-12T>A
|
rs746552008
|
0.00001
|
NM_130837.3(OPA1):c.1555T>C (p.Phe519Leu)
|
rs757786063
|
0.00001
|
NM_130837.3(OPA1):c.155G>A (p.Arg52Gln)
|
rs749115822
|
0.00001
|
NM_130837.3(OPA1):c.1608+5G>A
|
rs376673283
|
0.00001
|
NM_130837.3(OPA1):c.1609-17C>T
|
rs1734446989
|
0.00001
|
NM_130837.3(OPA1):c.1613A>G (p.Gln538Arg)
|
rs769834896
|
0.00001
|
NM_130837.3(OPA1):c.1744A>C (p.Lys582Gln)
|
rs766935532
|
0.00001
|
NM_130837.3(OPA1):c.1744A>G (p.Lys582Glu)
|
rs766935532
|
0.00001
|
NM_130837.3(OPA1):c.1871-11T>G
|
rs764738113
|
0.00001
|
NM_130837.3(OPA1):c.1935+15C>T
|
rs780771712
|
0.00001
|
NM_130837.3(OPA1):c.1936-15A>G
|
rs547740597
|
0.00001
|
NM_130837.3(OPA1):c.1936-2A>G
|
rs747454971
|
0.00001
|
NM_130837.3(OPA1):c.2006A>T (p.Lys669Ile)
|
rs146601330
|
0.00001
|
NM_130837.3(OPA1):c.2012+7A>G
|
rs767488490
|
0.00001
|
NM_130837.3(OPA1):c.2031A>G (p.Gln677=)
|
rs1283596761
|
0.00001
|
NM_130837.3(OPA1):c.205C>G (p.Pro69Ala)
|
rs750775588
|
0.00001
|
NM_130837.3(OPA1):c.2095A>G (p.Met699Val)
|
rs766758148
|
0.00001
|
NM_130837.3(OPA1):c.212G>A (p.Arg71His)
|
rs766106312
|
0.00001
|
NM_130837.3(OPA1):c.2168A>C (p.Lys723Thr)
|
rs1713442826
|
0.00001
|
NM_130837.3(OPA1):c.2172A>G (p.Ala724=)
|
rs1577287619
|
0.00001
|
NM_130837.3(OPA1):c.2178+1G>A
|
rs1560392160
|
0.00001
|
NM_130837.3(OPA1):c.2178+7A>G
|
rs940408484
|
0.00001
|
NM_130837.3(OPA1):c.2193C>G (p.Thr731=)
|
rs757675899
|
0.00001
|
NM_130837.3(OPA1):c.2201A>T (p.Glu734Val)
|
rs367611411
|
0.00001
|
NM_130837.3(OPA1):c.2212C>T (p.Arg738Cys)
|
rs1714040834
|
0.00001
|
NM_130837.3(OPA1):c.2225A>G (p.Glu742Gly)
|
rs758100951
|
0.00001
|
NM_130837.3(OPA1):c.2228C>T (p.Pro743Leu)
|
rs746579947
|
0.00001
|
NM_130837.3(OPA1):c.2229G>A (p.Pro743=)
|
rs768448865
|
0.00001
|
NM_130837.3(OPA1):c.2251A>G (p.Ile751Val)
|
rs961676005
|
0.00001
|
NM_130837.3(OPA1):c.2348A>G (p.Asn783Ser)
|
rs749143995
|
0.00001
|
NM_130837.3(OPA1):c.2429G>A (p.Arg810His)
|
rs762258708
|
0.00001
|
NM_130837.3(OPA1):c.2441-14A>T
|
rs1355408736
|
0.00001
|
NM_130837.3(OPA1):c.2452A>G (p.Ile818Val)
|
rs771263962
|
0.00001
|
NM_130837.3(OPA1):c.246C>T (p.Tyr82=)
|
rs201580797
|
0.00001
|
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp)
|
rs143252541
|
0.00001
|
NM_130837.3(OPA1):c.2618G>A (p.Arg873Gln)
|
rs954754062
|
0.00001
|
NM_130837.3(OPA1):c.2619G>A (p.Arg873=)
|
rs1577319844
|
0.00001
|
NM_130837.3(OPA1):c.2647G>A (p.Val883Ile)
|
rs773078058
|
0.00001
|
NM_130837.3(OPA1):c.270A>C (p.Pro90=)
|
rs1274743555
|
0.00001
|
NM_130837.3(OPA1):c.2729T>G (p.Leu910Arg)
|
rs139106405
|
0.00001
|
NM_130837.3(OPA1):c.2735G>A (p.Arg912Gln)
|
rs1215497493
|
0.00001
|
NM_130837.3(OPA1):c.2760G>A (p.Arg920=)
|
rs1192362976
|
0.00001
|
NM_130837.3(OPA1):c.2799C>T (p.Val933=)
|
rs771717557
|
0.00001
|
NM_130837.3(OPA1):c.285G>A (p.Thr95=)
|
rs753835372
|
0.00001
|
NM_130837.3(OPA1):c.2873-18T>C
|
rs892953182
|
0.00001
|
NM_130837.3(OPA1):c.2889A>G (p.Lys963=)
|
rs140177881
|
0.00001
|
NM_130837.3(OPA1):c.2904A>G (p.Val968=)
|
rs759927322
|
0.00001
|
NM_130837.3(OPA1):c.2910A>G (p.Glu970=)
|
rs1416460079
|
0.00001
|
NM_130837.3(OPA1):c.2938A>G (p.Ile980Val)
|
rs1716777737
|
0.00001
|
NM_130837.3(OPA1):c.2960G>A (p.Arg987His)
|
rs1160551128
|
0.00001
|
NM_130837.3(OPA1):c.2983+84C>T
|
rs573137605
|
0.00001
|
NM_130837.3(OPA1):c.2984-6C>G
|
rs1477203501
|
0.00001
|
NM_130837.3(OPA1):c.3016G>A (p.Ala1006Thr)
|
rs1166323851
|
0.00001
|
NM_130837.3(OPA1):c.3017C>G (p.Ala1006Gly)
|
rs577055148
|
0.00001
|
NM_130837.3(OPA1):c.301C>T (p.Arg101Cys)
|
rs371943668
|
0.00001
|
NM_130837.3(OPA1):c.302G>A (p.Arg101His)
|
rs201856560
|
0.00001
|
NM_130837.3(OPA1):c.3048A>C (p.Ter1016Tyr)
|
rs143929819
|
0.00001
|
NM_130837.3(OPA1):c.312A>G (p.Ile104Met)
|
rs755117948
|
0.00001
|
NM_130837.3(OPA1):c.326T>C (p.Val109Ala)
|
rs77173739
|
0.00001
|
NM_130837.3(OPA1):c.380C>T (p.Pro127Leu)
|
rs772551106
|
0.00001
|
NM_130837.3(OPA1):c.449-19A>G
|
rs773009829
|
0.00001
|
NM_130837.3(OPA1):c.464C>T (p.Ala155Val)
|
rs751318725
|
0.00001
|
NM_130837.3(OPA1):c.49T>A (p.Leu17Ile)
|
rs760770105
|
0.00001
|
NM_130837.3(OPA1):c.517G>A (p.Val173Ile)
|
rs778997114
|
0.00001
|
NM_130837.3(OPA1):c.531C>A (p.Ser177Arg)
|
rs727504057
|
0.00001
|
NM_130837.3(OPA1):c.533T>A (p.Leu178Ter)
|
rs727504058
|
0.00001
|
NM_130837.3(OPA1):c.556+14T>C
|
rs370489098
|
0.00001
|
NM_130837.3(OPA1):c.559C>T (p.His187Tyr)
|
rs374756648
|
0.00001
|
NM_130837.3(OPA1):c.560A>G (p.His187Arg)
|
rs1022524955
|
0.00001
|
NM_130837.3(OPA1):c.590C>G (p.Ser197Cys)
|
rs1729303601
|
0.00001
|
NM_130837.3(OPA1):c.603C>T (p.Leu201=)
|
rs377506325
|
0.00001
|
NM_130837.3(OPA1):c.626C>T (p.Thr209Met)
|
rs772596317
|
0.00001
|
NM_130837.3(OPA1):c.630G>A (p.Ala210=)
|
rs766593183
|
0.00001
|
NM_130837.3(OPA1):c.646C>T (p.Arg216Cys)
|
rs1489880934
|
0.00001
|
NM_130837.3(OPA1):c.661G>A (p.Asp221Asn)
|
rs367814426
|
0.00001
|
NM_130837.3(OPA1):c.726T>C (p.His242=)
|
rs895735810
|
0.00001
|
NM_130837.3(OPA1):c.738G>A (p.Ala246=)
|
rs775388791
|
0.00001
|
NM_130837.3(OPA1):c.756A>G (p.Gln252=)
|
rs375963561
|
0.00001
|
NM_130837.3(OPA1):c.765G>A (p.Thr255=)
|
rs766088527
|
0.00001
|
NM_130837.3(OPA1):c.784C>T (p.Arg262Cys)
|
rs767350693
|
0.00001
|
NM_130837.3(OPA1):c.789+2T>C
|
rs1731099484
|
0.00001
|
NM_130837.3(OPA1):c.821A>G (p.Gln274Arg)
|
rs1258694003
|
0.00001
|
NM_130837.3(OPA1):c.843+18G>A
|
rs759158013
|
0.00001
|
NM_130837.3(OPA1):c.860T>C (p.Ile287Thr)
|
rs951002467
|
0.00001
|
NM_130837.3(OPA1):c.89T>C (p.Leu30Pro)
|
rs758056583
|
0.00001
|
NM_130837.3(OPA1):c.902T>C (p.Leu301Ser)
|
rs1488795500
|
0.00001
|
NM_130837.3(OPA1):c.948+5T>G
|
rs376022570
|
0.00001
|
NM_130837.3(OPA1):c.949-10A>T
|
rs922871849
|
0.00001
|
NM_130837.3(OPA1):c.964A>T (p.Met322Leu)
|
rs938874214
|
0.00001
|
NM_130837.3(OPA1):c.999T>C (p.Tyr333=)
|
rs1301928434
|
0.00001
|
GRCh37/hg19 3q29(chr3:193355741-193355854)x1
|
|
|
NC_000003.11:g.(?_193311167)_(193311218_?)del
|
|
|
NC_000003.11:g.(?_193332492)_(193336745_?)del
|
|
|
NC_000003.11:g.(?_193332492)_(193409916_?)del
|
|
|
NC_000003.11:g.(?_193336638)_(193344011_?)del
|
|
|
NC_000003.11:g.(?_193354964)_(193355090_?)del
|
|
|
NC_000003.11:g.(?_193354964)_(193361914_?)dup
|
|
|
NC_000003.11:g.(?_193360534)_(193361914_?)del
|
|
|
NC_000003.11:g.(?_193380591)_(193385089_?)del
|
|
|
NC_000003.11:g.(?_193382649)_(193384198_?)del
|
|
|
NC_000003.11:g.(?_193382649)_(193385089_?)del
|
|
|
NC_000003.11:g.(?_193409832)_(193409916_?)del
|
|
|
NC_000003.12:g.193645729del
|
rs2109058653
|
|
NM_015560.2(OPA1):c.985del
|
rs2109039412
|
|
NM_130837.3(OPA1):c.*1_*5delATTAA
|
|
|
NM_130837.3(OPA1):c.1003G>A (p.Ala335Thr)
|
|
|
NM_130837.3(OPA1):c.1006A>C (p.Ser336Arg)
|
|
|
NM_130837.3(OPA1):c.1007G>A (p.Ser336Asn)
|
|
|
NM_130837.3(OPA1):c.1007G>C (p.Ser336Thr)
|
rs2109011596
|
|
NM_130837.3(OPA1):c.1011T>C (p.Tyr337=)
|
|
|
NM_130837.3(OPA1):c.1012A>G (p.Asn338Asp)
|
rs2109011624
|
|
NM_130837.3(OPA1):c.1015dup (p.Thr339fs)
|
|
|
NM_130837.3(OPA1):c.1017G>A (p.Thr339=)
|
rs758922394
|
|
NM_130837.3(OPA1):c.1017G>T (p.Thr339=)
|
|
|
NM_130837.3(OPA1):c.1018C>T (p.Gln340Ter)
|
rs1048376563
|
|
NM_130837.3(OPA1):c.1019A>C (p.Gln340Pro)
|
|
|
NM_130837.3(OPA1):c.1019A>G (p.Gln340Arg)
|
|
|
NM_130837.3(OPA1):c.1025A>G (p.His342Arg)
|
|
|
NM_130837.3(OPA1):c.1031C>G (p.Pro344Arg)
|
|
|
NM_130837.3(OPA1):c.1031_1035del (p.Pro344fs)
|
|
|
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)
|
rs121908375
|
|
NM_130837.3(OPA1):c.1035+18A>G
|
|
|
NM_130837.3(OPA1):c.1035+1G>A
|
rs727504059
|
|
NM_130837.3(OPA1):c.1035+1G>T
|
|
|
NM_130837.3(OPA1):c.1035+2del
|
rs1577226484
|
|
NM_130837.3(OPA1):c.1035+3A>G
|
|
|
NM_130837.3(OPA1):c.1035+3_1035+4delinsGC
|
rs2109011823
|
|
NM_130837.3(OPA1):c.1035+5G>A
|
rs754576717
|
|
NM_130837.3(OPA1):c.1035+9A>G
|
|
|
NM_130837.3(OPA1):c.1036-1G>A
|
rs863224130
|
|
NM_130837.3(OPA1):c.1036-1G>T
|
rs863224130
|
|
NM_130837.3(OPA1):c.1036-4del
|
|
|
NM_130837.3(OPA1):c.1036-5G>A
|
|
|
NM_130837.3(OPA1):c.1036-6G>A
|
rs1553876585
|
|
NM_130837.3(OPA1):c.1036G>C (p.Val346Leu)
|
rs1553876590
|
|
NM_130837.3(OPA1):c.1038TGT[1] (p.Val349del)
|
|
|
NM_130837.3(OPA1):c.1039G>T (p.Val347Phe)
|
rs2109014867
|
|
NM_130837.3(OPA1):c.1044G>A (p.Val348=)
|
|
|
NM_130837.3(OPA1):c.1045G>T (p.Val349Phe)
|
rs863224131
|
|
NM_130837.3(OPA1):c.1049G>T (p.Gly350Val)
|
|
|
NM_130837.3(OPA1):c.104T>C (p.Leu35Pro)
|
|
|
NM_130837.3(OPA1):c.1055A>C (p.Gln352Pro)
|
rs2109014902
|
|
NM_130837.3(OPA1):c.1057A>G (p.Ser353Gly)
|
|
|
NM_130837.3(OPA1):c.1065A>G (p.Gly355=)
|
|
|
NM_130837.3(OPA1):c.1067A>G (p.Lys356Arg)
|
|
|
NM_130837.3(OPA1):c.1067del (p.Lys356fs)
|
|
|
NM_130837.3(OPA1):c.106G>C (p.Val36Leu)
|
|
|
NM_130837.3(OPA1):c.1070C>T (p.Thr357Ile)
|
rs2109014949
|
|
NM_130837.3(OPA1):c.1073G>T (p.Ser358Ile)
|
|
|
NM_130837.3(OPA1):c.1074T>C (p.Ser358=)
|
|
|
NM_130837.3(OPA1):c.1077G>A (p.Val359=)
|
|
|
NM_130837.3(OPA1):c.1089del (p.Ile363fs)
|
|
|
NM_130837.3(OPA1):c.1091C>T (p.Ala364Val)
|
|
|
NM_130837.3(OPA1):c.1096G>C (p.Ala366Pro)
|
|
|
NM_130837.3(OPA1):c.1097C>A (p.Ala366Asp)
|
rs398124302
|
|
NM_130837.3(OPA1):c.1098T>A (p.Ala366=)
|
|
|
NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)
|
|
|
NM_130837.3(OPA1):c.1100G>C (p.Arg367Pro)
|
|
|
NM_130837.3(OPA1):c.1104A>G (p.Ile368Met)
|
|
|
NM_130837.3(OPA1):c.110C>T (p.Ser37Leu)
|
|
|
NM_130837.3(OPA1):c.1110A>G (p.Pro370=)
|
rs1196575724
|
|
NM_130837.3(OPA1):c.1126A>G (p.Met376Val)
|
rs863224132
|
|
NM_130837.3(OPA1):c.1128G>A (p.Met376Ile)
|
|
|
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter)
|
rs761460379
|
|
NM_130837.3(OPA1):c.1132_1133insTCA (p.Met377_Thr378insIle)
|
rs2109015232
|
|
NM_130837.3(OPA1):c.1133C>T (p.Thr378Ile)
|
|
|
NM_130837.3(OPA1):c.1135C>G (p.Arg379Gly)
|
|
|
NM_130837.3(OPA1):c.1136G>A (p.Arg379His)
|
rs1475478496
|
|
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)
|
rs863224140
|
|
NM_130837.3(OPA1):c.1144G>A (p.Val382Ile)
|
|
|
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg)
|
rs398124303
|
|
NM_130837.3(OPA1):c.1149+13G>A
|
|
|
NM_130837.3(OPA1):c.1149+14C>T
|
|
|
NM_130837.3(OPA1):c.1149+5G>A
|
|
|
NM_130837.3(OPA1):c.1149+7A>G
|
|
|
NM_130837.3(OPA1):c.1149+9A>G
|
rs2109015355
|
|
NM_130837.3(OPA1):c.1149G>A (p.Lys383=)
|
rs1560365123
|
|
NM_130837.3(OPA1):c.1149G>T (p.Lys383Asn)
|
rs1560365123
|
|
NM_130837.3(OPA1):c.1150-1G>A
|
rs879255510
|
|
NM_130837.3(OPA1):c.1150-2A>T
|
rs886041317
|
|
NM_130837.3(OPA1):c.1151T>G (p.Val384Gly)
|
|
|
NM_130837.3(OPA1):c.1157dup (p.Ser387fs)
|
rs1733978179
|
|
NM_130837.3(OPA1):c.115A>G (p.Ser39Gly)
|
|
|
NM_130837.3(OPA1):c.1165G>A (p.Gly389Ser)
|
|
|
NM_130837.3(OPA1):c.116G>A (p.Ser39Asn)
|
|
|
NM_130837.3(OPA1):c.1174C>G (p.His392Asp)
|
rs1553877591
|
|
NM_130837.3(OPA1):c.1177G>T (p.Val393Leu)
|
|
|
NM_130837.3(OPA1):c.1178dup (p.Ala394fs)
|
|
|
NM_130837.3(OPA1):c.1183del (p.Leu395fs)
|
|
|
NM_130837.3(OPA1):c.118A>G (p.Ile40Val)
|
|
|
NM_130837.3(OPA1):c.1195A>C (p.Ser399Arg)
|
rs1553877599
|
|
NM_130837.3(OPA1):c.1202G>A (p.Arg401Gln)
|
rs1180256773
|
|
NM_130837.3(OPA1):c.1203G>C (p.Arg401=)
|
|
|
NM_130837.3(OPA1):c.1214_1215dup (p.Thr406fs)
|
rs2109039751
|
|
NM_130837.3(OPA1):c.1223A>G (p.Glu408Gly)
|
|
|
NM_130837.3(OPA1):c.1225G>C (p.Glu409Gln)
|
|
|
NM_130837.3(OPA1):c.1228G>A (p.Asp410Asn)
|
|
|
NM_130837.3(OPA1):c.1228G>T (p.Asp410Tyr)
|
|
|
NM_130837.3(OPA1):c.1230+1G>A
|
rs80356528
|
|
NM_130837.3(OPA1):c.1230+21dup
|
rs776036123
|
|
NM_130837.3(OPA1):c.1230+5G>A
|
rs1057519244
|
|
NM_130837.3(OPA1):c.1230T>C (p.Asp410=)
|
|
|
NM_130837.3(OPA1):c.1231-12_1231-11del
|
rs757486140
|
|
NM_130837.3(OPA1):c.1231-6C>T
|
|
|
NM_130837.3(OPA1):c.1247A>T (p.His416Leu)
|
rs139207741
|
|
NM_130837.3(OPA1):c.1248T>C (p.His416=)
|
|
|
NM_130837.3(OPA1):c.1248T>G (p.His416Gln)
|
|
|
NM_130837.3(OPA1):c.1254A>T (p.Ile418=)
|
rs1577240973
|
|
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter)
|
rs104893753
|
|
NM_130837.3(OPA1):c.1286G>T (p.Gly429Val)
|
rs146003075
|
|
NM_130837.3(OPA1):c.1288T>C (p.Cys430Arg)
|
|
|
NM_130837.3(OPA1):c.1292C>T (p.Thr431Ile)
|
|
|
NM_130837.3(OPA1):c.1294G>A (p.Val432Ile)
|
|
|
NM_130837.3(OPA1):c.1294G>T (p.Val432Phe)
|
rs780922750
|
|
NM_130837.3(OPA1):c.1305+128del
|
rs112385163
|
|
NM_130837.3(OPA1):c.1305+128dup
|
rs112385163
|
|
NM_130837.3(OPA1):c.1305+15T>A
|
|
|
NM_130837.3(OPA1):c.1305+17A>G
|
|
|
NM_130837.3(OPA1):c.1305+18T>G
|
|
|
NM_130837.3(OPA1):c.1305+1G>A
|
rs745927258
|
|
NM_130837.3(OPA1):c.1305+1G>C
|
|
|
NM_130837.3(OPA1):c.1305+1G>T
|
|
|
NM_130837.3(OPA1):c.1305+3A>G
|
|
|
NM_130837.3(OPA1):c.1305+4A>G
|
rs1734019105
|
|
NM_130837.3(OPA1):c.1305G>A (p.Glu435=)
|
|
|
NM_130837.3(OPA1):c.1306-10T>C
|
rs1734072405
|
|
NM_130837.3(OPA1):c.1306-17T>G
|
|
|
NM_130837.3(OPA1):c.1306-6G>A
|
|
|
NM_130837.3(OPA1):c.1306-9C>T
|
|
|
NM_130837.3(OPA1):c.1307C>A (p.Thr436Asn)
|
rs1174632014
|
|
NM_130837.3(OPA1):c.1308C>T (p.Thr436=)
|
|
|
NM_130837.3(OPA1):c.1323A>G (p.Val441=)
|
rs1014702193
|
|
NM_130837.3(OPA1):c.1338A>G (p.Leu446=)
|
rs1298210366
|
|
NM_130837.3(OPA1):c.1345A>G (p.Met449Val)
|
|
|
NM_130837.3(OPA1):c.1352T>A (p.Leu451His)
|
rs727504060
|
|
NM_130837.3(OPA1):c.1352T>G (p.Leu451Arg)
|
rs727504060
|
|
NM_130837.3(OPA1):c.1359C>G (p.Asp453Glu)
|
|
|
NM_130837.3(OPA1):c.1359del (p.Leu454fs)
|
rs2109043623
|
|
NM_130837.3(OPA1):c.1363C>T (p.Pro455Ser)
|
rs1553877864
|
|
NM_130837.3(OPA1):c.1364C>T (p.Pro455Leu)
|
rs794727069
|
|
NM_130837.3(OPA1):c.1369G>A (p.Val457Met)
|
rs879255594
|
|
NM_130837.3(OPA1):c.1373T>C (p.Ile458Thr)
|
rs863224135
|
|
NM_130837.3(OPA1):c.1374T>C (p.Ile458=)
|
|
|
NM_130837.3(OPA1):c.1377+17C>T
|
|
|
NM_130837.3(OPA1):c.1377+1G>A
|
|
|
NM_130837.3(OPA1):c.1377+4del
|
rs2109043753
|
|
NM_130837.3(OPA1):c.1377+5G>A
|
|
|
NM_130837.3(OPA1):c.1377+5G>T
|
rs863224136
|
|
NM_130837.3(OPA1):c.1377+5_1377+6delinsTC
|
rs797044639
|
|
NM_130837.3(OPA1):c.1377+5del
|
rs2109043788
|
|
NM_130837.3(OPA1):c.1377+8T>C
|
|
|
NM_130837.3(OPA1):c.1377_1377+4del
|
rs1577242473
|
|
NM_130837.3(OPA1):c.1378-11T>C
|
|
|
NM_130837.3(OPA1):c.1378-3A>G
|
rs1438193216
|
|
NM_130837.3(OPA1):c.1378-4T>C
|
rs778161316
|
|
NM_130837.3(OPA1):c.1382_1383del (p.Val461fs)
|
rs2109044278
|
|
NM_130837.3(OPA1):c.1383G>A (p.Val461=)
|
|
|
NM_130837.3(OPA1):c.1389dup (p.Gly464fs)
|
rs1553877912
|
|
NM_130837.3(OPA1):c.138T>A (p.Pro46=)
|
|
|
NM_130837.3(OPA1):c.1400C>T (p.Pro467Leu)
|
rs2109044362
|
|
NM_130837.3(OPA1):c.1404C>T (p.Asp468=)
|
|
|
NM_130837.3(OPA1):c.1406_1407del (p.Thr469fs)
|
|
|
NM_130837.3(OPA1):c.1407A>C (p.Thr469=)
|
rs1553877924
|
|
NM_130837.3(OPA1):c.1408A>G (p.Lys470Glu)
|
rs2109044398
|
|
NM_130837.3(OPA1):c.1411G>A (p.Glu471Lys)
|
|
|
NM_130837.3(OPA1):c.1417_1418del (p.Ile473fs)
|
|
|
NM_130837.3(OPA1):c.1422C>T (p.Phe474=)
|
|
|
NM_130837.3(OPA1):c.1429A>G (p.Ser477Gly)
|
rs1231502335
|
|
NM_130837.3(OPA1):c.1431C>T (p.Ser477=)
|
|
|
NM_130837.3(OPA1):c.1441A>T (p.Met481Leu)
|
|
|
NM_130837.3(OPA1):c.1442T>G (p.Met481Arg)
|
|
|
NM_130837.3(OPA1):c.1443dup (p.Gln482fs)
|
rs2109044547
|
|
NM_130837.3(OPA1):c.1444C>T (p.Gln482Ter)
|
|
|
NM_130837.3(OPA1):c.1448A>C (p.Asn483Thr)
|
|
|
NM_130837.3(OPA1):c.144A>G (p.Leu48=)
|
|
|
NM_130837.3(OPA1):c.1451C>G (p.Pro484Arg)
|
|
|
NM_130837.3(OPA1):c.1461_1465dup (p.Leu489fs)
|
|
|
NM_130837.3(OPA1):c.1465C>T (p.Leu489=)
|
rs1577243073
|
|
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro)
|
rs1553877946
|
|
NM_130837.3(OPA1):c.1469_1470del (p.Cys490fs)
|
|
|
NM_130837.3(OPA1):c.1471A>G (p.Ile491Val)
|
rs2109044723
|
|
NM_130837.3(OPA1):c.1475A>G (p.Gln492Arg)
|
rs863225277
|
|
NM_130837.3(OPA1):c.1477+17G>T
|
|
|
NM_130837.3(OPA1):c.1477+18A>G
|
|
|
NM_130837.3(OPA1):c.1478-20C>T
|
rs774265172
|
|
NM_130837.3(OPA1):c.1478-7T>C
|
|
|
NM_130837.3(OPA1):c.1478A>T (p.Asp493Val)
|
rs1734162973
|
|
NM_130837.3(OPA1):c.1480G>A (p.Gly494Arg)
|
rs2109046811
|
|
NM_130837.3(OPA1):c.1481G>T (p.Gly494Val)
|
rs387906900
|
|
NM_130837.3(OPA1):c.1487T>G (p.Val496Gly)
|
rs2109046850
|
|
NM_130837.3(OPA1):c.1490A>C (p.Asp497Ala)
|
rs1064795743
|
|
NM_130837.3(OPA1):c.1498C>A (p.Arg500Ser)
|
rs886043340
|
|
NM_130837.3(OPA1):c.1498C>T (p.Arg500Cys)
|
|
|
NM_130837.3(OPA1):c.1499G>A (p.Arg500His)
|
rs80356529
|
|
NM_130837.3(OPA1):c.150T>G (p.Leu50=)
|
|
|
NM_130837.3(OPA1):c.1511C>G (p.Thr504Arg)
|
rs1577244261
|
|
NM_130837.3(OPA1):c.1513G>A (p.Asp505Asn)
|
rs761655742
|
|
NM_130837.3(OPA1):c.1515C>T (p.Asp505=)
|
|
|
NM_130837.3(OPA1):c.1517del (p.Leu506fs)
|
rs398124297
|
|
NM_130837.3(OPA1):c.152A>G (p.Gln51Arg)
|
|
|
NM_130837.3(OPA1):c.1539T>C (p.His513=)
|
|
|
NM_130837.3(OPA1):c.1542A>G (p.Gly514=)
|
|
|
NM_130837.3(OPA1):c.1545_1547del (p.Arg516del)
|
rs1199056091
|
|
NM_130837.3(OPA1):c.1549A>C (p.Thr517Pro)
|
rs1553878117
|
|
NM_130837.3(OPA1):c.154C>T (p.Arg52Ter)
|
rs1560327427
|
|
NM_130837.3(OPA1):c.1550C>A (p.Thr517Asn)
|
|
|
NM_130837.3(OPA1):c.1551del (p.Ile518fs)
|
|
|
NM_130837.3(OPA1):c.1554A>G (p.Ile518Met)
|
|
|
NM_130837.3(OPA1):c.1567A>G (p.Lys523Glu)
|
|
|
NM_130837.3(OPA1):c.1569A>G (p.Lys523=)
|
rs746251280
|
|
NM_130837.3(OPA1):c.1575_1608+4del
|
rs1734176382
|
|
NM_130837.3(OPA1):c.1577T>C (p.Leu526Pro)
|
rs1553878150
|
|
NM_130837.3(OPA1):c.1581del (p.Glu528fs)
|
rs2109047342
|
|
NM_130837.3(OPA1):c.1585A>G (p.Lys529Glu)
|
rs1734177957
|
|
NM_130837.3(OPA1):c.1590T>A (p.Asn530Lys)
|
rs863224137
|
|
NM_130837.3(OPA1):c.1598G>T (p.Ser533Ile)
|
|
|
NM_130837.3(OPA1):c.1603A>G (p.Ser535Gly)
|
|
|
NM_130837.3(OPA1):c.1608+1G>A
|
|
|
NM_130837.3(OPA1):c.1608+8C>A
|
|
|
NM_130837.3(OPA1):c.1609-294G>A
|
rs140947578
|
|
NM_130837.3(OPA1):c.1609-4A>C
|
|
|
NM_130837.3(OPA1):c.1609-7A>T
|
|
|
NM_130837.3(OPA1):c.1609-9dup
|
rs1160468651
|
|
NM_130837.3(OPA1):c.1609A>C (p.Ile537Leu)
|
|
|
NM_130837.3(OPA1):c.1612C>T (p.Gln538Ter)
|
rs2109057450
|
|
NM_130837.3(OPA1):c.1614G>A (p.Gln538=)
|
|
|
NM_130837.3(OPA1):c.1619T>C (p.Ile540Thr)
|
|
|
NM_130837.3(OPA1):c.1621A>T (p.Ile541Phe)
|
|
|
NM_130837.3(OPA1):c.1626A>G (p.Glu542=)
|
rs1734453026
|
|
NM_130837.3(OPA1):c.1627G>A (p.Gly543Arg)
|
rs1553878554
|
|
NM_130837.3(OPA1):c.1629A>G (p.Gly543=)
|
rs2109057554
|
|
NM_130837.3(OPA1):c.162A>G (p.Gln54=)
|
|
|
NM_130837.3(OPA1):c.1631A>C (p.Lys544Thr)
|
|
|
NM_130837.3(OPA1):c.1639C>A (p.Pro547Thr)
|
rs2109057610
|
|
NM_130837.3(OPA1):c.1641A>T (p.Pro547=)
|
|
|
NM_130837.3(OPA1):c.1665T>C (p.Ala555=)
|
|
|
NM_130837.3(OPA1):c.1666G>A (p.Val556Ile)
|
rs1553878564
|
|
NM_130837.3(OPA1):c.1681+11A>G
|
|
|
NM_130837.3(OPA1):c.1681+15del
|
rs2109057893
|
|
NM_130837.3(OPA1):c.1681+18A>G
|
|
|
NM_130837.3(OPA1):c.1681+18A>T
|
|
|
NM_130837.3(OPA1):c.1681+1G>C
|
rs886041318
|
|
NM_130837.3(OPA1):c.1681+1G>T
|
rs886041318
|
|
NM_130837.3(OPA1):c.1681+3A>G
|
rs1553878573
|
|
NM_130837.3(OPA1):c.1681+5G>A
|
rs1553878576
|
|
NM_130837.3(OPA1):c.1681+6C>G
|
rs2109057744
|
|
NM_130837.3(OPA1):c.1681G>C (p.Gly561Arg)
|
|
|
NM_130837.3(OPA1):c.1682-16del
|
rs754964242
|
|
NM_130837.3(OPA1):c.1682-17C>A
|
|
|
NM_130837.3(OPA1):c.1682-18A>G
|
rs1734476700
|
|
NM_130837.3(OPA1):c.1682-9C>T
|
|
|
NM_130837.3(OPA1):c.1688G>A (p.Ser563Asn)
|
|
|
NM_130837.3(OPA1):c.168G>T (p.Arg56Ser)
|
|
|
NM_130837.3(OPA1):c.1691C>G (p.Ser564Cys)
|
|
|
NM_130837.3(OPA1):c.1696delinsTTC (p.Ser566fs)
|
rs1553878647
|
|
NM_130837.3(OPA1):c.16C>G (p.Arg6Gly)
|
|
|
NM_130837.3(OPA1):c.1701T>G (p.Ile567Met)
|
rs2109058778
|
|
NM_130837.3(OPA1):c.1706C>G (p.Ala569Gly)
|
|
|
NM_130837.3(OPA1):c.1708A>G (p.Ile570Val)
|
|
|
NM_130837.3(OPA1):c.170C>T (p.Thr57Ile)
|
|
|
NM_130837.3(OPA1):c.1714G>C (p.Glu572Gln)
|
|
|
NM_130837.3(OPA1):c.1714G>T (p.Glu572Ter)
|
rs748215343
|
|
NM_130837.3(OPA1):c.1715A>T (p.Glu572Val)
|
|
|
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del)
|
rs794727173
|
|
NM_130837.3(OPA1):c.1725A>C (p.Glu575Asp)
|
rs1424763009
|
|
NM_130837.3(OPA1):c.1734del (p.Gln579fs)
|
rs1560377736
|
|
NM_130837.3(OPA1):c.1737G>C (p.Gln579His)
|
rs538099724
|
|
NM_130837.3(OPA1):c.1745A>G (p.Lys582Arg)
|
|
|
NM_130837.3(OPA1):c.1747C>G (p.Leu583Val)
|
|
|
NM_130837.3(OPA1):c.1749C>G (p.Leu583=)
|
|
|
NM_130837.3(OPA1):c.1751T>G (p.Leu584Arg)
|
|
|
NM_130837.3(OPA1):c.1752A>G (p.Leu584=)
|
|
|
NM_130837.3(OPA1):c.1754+10T>C
|
rs2109059140
|
|
NM_130837.3(OPA1):c.1754+12_1754+22del
|
rs1218561255
|
|
NM_130837.3(OPA1):c.1754+1dup
|
|
|
NM_130837.3(OPA1):c.1754+22T>G
|
|
|
NM_130837.3(OPA1):c.1754+270_1754+273del
|
rs71637116
|
|
NM_130837.3(OPA1):c.1754+3A>T
|
|
|
NM_130837.3(OPA1):c.178del (p.Gln60fs)
|
|
|
NM_130837.3(OPA1):c.182A>G (p.Gln61Arg)
|
rs558532319
|
|
NM_130837.3(OPA1):c.183G>A (p.Gln61=)
|
|
|
NM_130837.3(OPA1):c.1871-12C>T
|
rs1711510176
|
|
NM_130837.3(OPA1):c.1871-13C>G
|
|
|
NM_130837.3(OPA1):c.1871-13C>T
|
rs1711510039
|
|
NM_130837.3(OPA1):c.1871-14T>C
|
|
|
NM_130837.3(OPA1):c.1871-18C>T
|
|
|
NM_130837.3(OPA1):c.1871C>A (p.Ala624Glu)
|
rs1553879362
|
|
NM_130837.3(OPA1):c.1884C>T (p.Asn628=)
|
|
|
NM_130837.3(OPA1):c.1886T>C (p.Leu629Pro)
|
rs1711513392
|
|
NM_130837.3(OPA1):c.1899G>A (p.Trp633Ter)
|
rs1711514692
|
|
NM_130837.3(OPA1):c.1909_1912del (p.Tyr637fs)
|
|
|
NM_130837.3(OPA1):c.191C>T (p.Ser64Phe)
|
|
|
NM_130837.3(OPA1):c.1921C>T (p.Arg641Trp)
|
|
|
NM_130837.3(OPA1):c.1926A>G (p.Glu642=)
|
|
|
NM_130837.3(OPA1):c.1935+10G>A
|
|
|
NM_130837.3(OPA1):c.1935+177_1935+180del
|
rs146802653
|
|
NM_130837.3(OPA1):c.1935+17C>A
|
|
|
NM_130837.3(OPA1):c.1935+17C>T
|
|
|
NM_130837.3(OPA1):c.1935+1G>C
|
rs1711518217
|
|
NM_130837.3(OPA1):c.1935+3A>G
|
rs398124300
|
|
NM_130837.3(OPA1):c.1935+51T>G
|
rs9831900
|
|
NM_130837.3(OPA1):c.1936-10_1943dup
|
|
|
NM_130837.3(OPA1):c.1936-11A>G
|
|
|
NM_130837.3(OPA1):c.1936-13_1936-12del
|
rs2109083583
|
|
NM_130837.3(OPA1):c.1936-18T>A
|
|
|
NM_130837.3(OPA1):c.1937A>G (p.Asn646Ser)
|
|
|
NM_130837.3(OPA1):c.193C>G (p.Leu65Val)
|
|
|
NM_130837.3(OPA1):c.1941A>G (p.Glu647=)
|
|
|
NM_130837.3(OPA1):c.1946T>C (p.Phe649Ser)
|
rs886042514
|
|
NM_130837.3(OPA1):c.1948dup (p.Glu650fs)
|
rs2109083754
|
|
NM_130837.3(OPA1):c.1950_1973dup (p.Leu657_Asp658insGluLysAlaLysAsnGluIleLeu)
|
|
|
NM_130837.3(OPA1):c.1961A>G (p.Asn654Ser)
|
|
|
NM_130837.3(OPA1):c.1966A>G (p.Ile656Val)
|
|
|
NM_130837.3(OPA1):c.1979_1980del (p.Val660fs)
|
rs2109083888
|
|
NM_130837.3(OPA1):c.1985G>A (p.Ser662Asn)
|
rs2109083949
|
|
NM_130837.3(OPA1):c.1989G>A (p.Leu663=)
|
rs902810216
|
|
NM_130837.3(OPA1):c.198_201del (p.Asn67fs)
|
|
|
NM_130837.3(OPA1):c.1996G>A (p.Val666Ile)
|
rs200756304
|
|
NM_130837.3(OPA1):c.1996G>C (p.Val666Leu)
|
|
|
NM_130837.3(OPA1):c.1A>T (p.Met1Leu)
|
|
|
NM_130837.3(OPA1):c.2010T>C (p.His670=)
|
rs1160567846
|
|
NM_130837.3(OPA1):c.2012+16del
|
|
|
NM_130837.3(OPA1):c.2012+1G>C
|
rs863224134
|
|
NM_130837.3(OPA1):c.2012+1G>T
|
rs863224134
|
|
NM_130837.3(OPA1):c.2013-10_2013-8del
|
rs781060459
|
|
NM_130837.3(OPA1):c.2013-13T>G
|
|
|
NM_130837.3(OPA1):c.2013-14C>T
|
|
|
NM_130837.3(OPA1):c.2013-1G>A
|
rs2109138708
|
|
NM_130837.3(OPA1):c.2016G>A (p.Glu672=)
|
|
|
NM_130837.3(OPA1):c.2030A>G (p.Gln677Arg)
|
|
|
NM_130837.3(OPA1):c.2035_2036del (p.Leu679fs)
|
|
|
NM_130837.3(OPA1):c.2042A>G (p.Glu681Gly)
|
|
|
NM_130837.3(OPA1):c.2044A>G (p.Arg682Gly)
|
|
|
NM_130837.3(OPA1):c.2046A>C (p.Arg682Ser)
|
|
|
NM_130837.3(OPA1):c.2046_2047del (p.Arg682fs)
|
|
|
NM_130837.3(OPA1):c.2053A>G (p.Thr685Ala)
|
|
|
NM_130837.3(OPA1):c.2054C>A (p.Thr685Asn)
|
|
|
NM_130837.3(OPA1):c.2057A>G (p.His686Arg)
|
|
|
NM_130837.3(OPA1):c.2057_2058del (p.His686fs)
|
rs1713427542
|
|
NM_130837.3(OPA1):c.2058T>C (p.His686=)
|
|
|
NM_130837.3(OPA1):c.2062A>C (p.Ile688Leu)
|
|
|
NM_130837.3(OPA1):c.2075A>G (p.Tyr692Cys)
|
|
|
NM_130837.3(OPA1):c.2083G>T (p.Ala695Ser)
|
rs776520906
|
|
NM_130837.3(OPA1):c.2084C>T (p.Ala695Val)
|
rs2109139144
|
|
NM_130837.3(OPA1):c.2087C>A (p.Ala696Glu)
|
|
|
NM_130837.3(OPA1):c.2091G>A (p.Gln697=)
|
|
|
NM_130837.3(OPA1):c.2091G>C (p.Gln697His)
|
|
|
NM_130837.3(OPA1):c.2097G>A (p.Met699Ile)
|
|
|
NM_130837.3(OPA1):c.2105G>T (p.Gly702Val)
|
rs2109139264
|
|
NM_130837.3(OPA1):c.2125G>A (p.Asp709Asn)
|
|
|
NM_130837.3(OPA1):c.2126A>G (p.Asp709Gly)
|
rs2109139343
|
|
NM_130837.3(OPA1):c.2128A>G (p.Ile710Val)
|
|
|
NM_130837.3(OPA1):c.2131A>C (p.Lys711Gln)
|
|
|
NM_130837.3(OPA1):c.2132A>C (p.Lys711Thr)
|
rs2109139390
|
|
NM_130837.3(OPA1):c.2133G>A (p.Lys711=)
|
|
|
NM_130837.3(OPA1):c.2136T>G (p.Leu712=)
|
|
|
NM_130837.3(OPA1):c.2140C>T (p.Gln714Ter)
|
|
|
NM_130837.3(OPA1):c.2143T>C (p.Trp715Arg)
|
rs1553881180
|
|
NM_130837.3(OPA1):c.2149G>T (p.Asp717Tyr)
|
rs1379001496
|
|
NM_130837.3(OPA1):c.2155C>T (p.Gln719Ter)
|
rs2109139510
|
|
NM_130837.3(OPA1):c.2177A>C (p.Glu726Ala)
|
rs2109139681
|
|
NM_130837.3(OPA1):c.2178+19T>C
|
|
|
NM_130837.3(OPA1):c.2178G>A (p.Glu726=)
|
|
|
NM_130837.3(OPA1):c.2179-1G>A
|
rs2109163061
|
|
NM_130837.3(OPA1):c.2179-1G>C
|
|
|
NM_130837.3(OPA1):c.2179-3T>C
|
|
|
NM_130837.3(OPA1):c.2179-7A>G
|
rs2109162943
|
|
NM_130837.3(OPA1):c.2184T>C (p.Ala728=)
|
|
|
NM_130837.3(OPA1):c.2184T>G (p.Ala728=)
|
|
|
NM_130837.3(OPA1):c.2194C>G (p.Leu732Val)
|
|
|
NM_130837.3(OPA1):c.2197del (p.Gln733fs)
|
rs2109163111
|
|
NM_130837.3(OPA1):c.21C>T (p.Ala7=)
|
|
|
NM_130837.3(OPA1):c.2211C>T (p.Ser737=)
|
|
|
NM_130837.3(OPA1):c.2213del (p.Arg738fs)
|
rs2109163266
|
|
NM_130837.3(OPA1):c.2218A>C (p.Met740Leu)
|
|
|
NM_130837.3(OPA1):c.2218A>G (p.Met740Val)
|
|
|
NM_130837.3(OPA1):c.2220G>A (p.Met740Ile)
|
rs2109163377
|
|
NM_130837.3(OPA1):c.2220G>T (p.Met740Ile)
|
|
|
NM_130837.3(OPA1):c.2224_2225del (p.Glu742fs)
|
rs794727345
|
|
NM_130837.3(OPA1):c.2228C>G (p.Pro743Arg)
|
rs746579947
|
|
NM_130837.3(OPA1):c.2235G>A (p.Gly745=)
|
|
|
NM_130837.3(OPA1):c.2241G>A (p.Glu747=)
|
|
|
NM_130837.3(OPA1):c.2244T>A (p.His748Gln)
|
rs2109163613
|
|
NM_130837.3(OPA1):c.2250C>T (p.Asp750=)
|
|
|
NM_130837.3(OPA1):c.2253A>T (p.Ile751=)
|
|
|
NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del)
|
rs755591067
|
|
NM_130837.3(OPA1):c.2273C>T (p.Ala758Val)
|
|
|
NM_130837.3(OPA1):c.2274_2275inv (p.Val759Ile)
|
|
|
NM_130837.3(OPA1):c.2284G>T (p.Glu762Ter)
|
rs2109163970
|
|
NM_130837.3(OPA1):c.2287A>G (p.Ser763Gly)
|
|
|
NM_130837.3(OPA1):c.2287del (p.Ser763fs)
|
rs1219753329
|
|
NM_130837.3(OPA1):c.2289_2306del (p.Ser763_Trp769delinsArg)
|
rs886043383
|
|
NM_130837.3(OPA1):c.2293A>G (p.Lys765Glu)
|
|
|
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter)
|
rs863224906
|
|
NM_130837.3(OPA1):c.2297G>A (p.Arg766Gln)
|
|
|
NM_130837.3(OPA1):c.22G>T (p.Ala8Ser)
|
rs794726939
|
|
NM_130837.3(OPA1):c.2301C>T (p.His767=)
|
|
|
NM_130837.3(OPA1):c.2303A>G (p.Lys768Arg)
|
rs2109164239
|
|
NM_130837.3(OPA1):c.231A>G (p.Pro77=)
|
|
|
NM_130837.3(OPA1):c.2320G>C (p.Glu774Gln)
|
|
|
NM_130837.3(OPA1):c.2327G>A (p.Ser776Asn)
|
|
|
NM_130837.3(OPA1):c.232A>G (p.Ile78Val)
|
|
|
NM_130837.3(OPA1):c.232del (p.Ile78fs)
|
|
|
NM_130837.3(OPA1):c.2331+14A>G
|
|
|
NM_130837.3(OPA1):c.2331+18T>C
|
|
|
NM_130837.3(OPA1):c.2331+19G>C
|
|
|
NM_130837.3(OPA1):c.2331+20G>A
|
rs374530731
|
|
NM_130837.3(OPA1):c.2331+6T>A
|
|
|
NM_130837.3(OPA1):c.2332-14_2332-12del
|
|
|
NM_130837.3(OPA1):c.2332-3C>T
|
|
|
NM_130837.3(OPA1):c.2349T>C (p.Asn783=)
|
|
|
NM_130837.3(OPA1):c.2350G>A (p.Ala784Thr)
|
rs1714562883
|
|
NM_130837.3(OPA1):c.2355G>A (p.Leu785=)
|
rs2109186550
|
|
NM_130837.3(OPA1):c.2361C>T (p.Asp787=)
|
|
|
NM_130837.3(OPA1):c.2362C>T (p.Arg788Ter)
|
rs1553784985
|
|
NM_130837.3(OPA1):c.2364A>G (p.Arg788=)
|
|
|
NM_130837.3(OPA1):c.2365T>G (p.Ser789Ala)
|
|
|
NM_130837.3(OPA1):c.2368A>G (p.Ile790Val)
|
|
|
NM_130837.3(OPA1):c.2379A>G (p.Lys793=)
|
rs1714568485
|
|
NM_130837.3(OPA1):c.237A>G (p.Lys79=)
|
|
|
NM_130837.3(OPA1):c.2382G>A (p.Gln794=)
|
rs1714568963
|
|
NM_130837.3(OPA1):c.238T>C (p.Tyr80His)
|
|
|
NM_130837.3(OPA1):c.2393C>T (p.Ala798Val)
|
|
|
NM_130837.3(OPA1):c.2395G>A (p.Ala799Thr)
|
rs2109186848
|
|
NM_130837.3(OPA1):c.2406del (p.Phe802fs)
|
rs1553785025
|
|
NM_130837.3(OPA1):c.240T>C (p.Tyr80=)
|
|
|
NM_130837.3(OPA1):c.2410G>C (p.Glu804Gln)
|
rs1714572413
|
|
NM_130837.3(OPA1):c.2415G>T (p.Glu805Asp)
|
|
|
NM_130837.3(OPA1):c.2416G>A (p.Ala806Thr)
|
|
|
NM_130837.3(OPA1):c.2420T>C (p.Leu807Pro)
|
rs1560035790
|
|
NM_130837.3(OPA1):c.2422C>T (p.Gln808Ter)
|
rs398124301
|
|
NM_130837.3(OPA1):c.2424G>C (p.Gln808His)
|
|
|
NM_130837.3(OPA1):c.2426C>G (p.Ala809Gly)
|
|
|
NM_130837.3(OPA1):c.2428C>T (p.Arg810Cys)
|
|
|
NM_130837.3(OPA1):c.2435A>G (p.Lys812Arg)
|
|
|
NM_130837.3(OPA1):c.2438A>G (p.Asp813Gly)
|
|
|
NM_130837.3(OPA1):c.2440+14C>T
|
|
|
NM_130837.3(OPA1):c.2440+14del
|
|
|
NM_130837.3(OPA1):c.2440+15G>A
|
|
|
NM_130837.3(OPA1):c.2440+18T>G
|
|
|
NM_130837.3(OPA1):c.2440+1G>A
|
|
|
NM_130837.3(OPA1):c.2441-13T>A
|
rs773828534
|
|
NM_130837.3(OPA1):c.2441-15_2441-12del
|
|
|
NM_130837.3(OPA1):c.2441-17T>C
|
|
|
NM_130837.3(OPA1):c.2441-4C>G
|
rs763386320
|
|
NM_130837.3(OPA1):c.2464G>A (p.Val822Met)
|
|
|
NM_130837.3(OPA1):c.2478G>A (p.Trp826Ter)
|
|
|
NM_130837.3(OPA1):c.2480A>G (p.Lys827Arg)
|
|
|
NM_130837.3(OPA1):c.2481A>G (p.Lys827=)
|
|
|
NM_130837.3(OPA1):c.2495A>G (p.Tyr832Cys)
|
|
|
NM_130837.3(OPA1):c.2499G>A (p.Trp833Ter)
|
rs1553785338
|
|
NM_130837.3(OPA1):c.2502G>T (p.Lys834Asn)
|
rs2109193504
|
|
NM_130837.3(OPA1):c.2507G>A (p.Arg836Gln)
|
|
|
NM_130837.3(OPA1):c.2508G>A (p.Arg836=)
|
rs2109193574
|
|
NM_130837.3(OPA1):c.2512dup (p.Gln838fs)
|
rs1714725151
|
|
NM_130837.3(OPA1):c.2519A>G (p.Gln840Arg)
|
rs1064797302
|
|
NM_130837.3(OPA1):c.2520+19C>G
|
rs1714733939
|
|
NM_130837.3(OPA1):c.2520+1G>A
|
rs1553785362
|
|
NM_130837.3(OPA1):c.2520+4G>A
|
rs1577307342
|
|
NM_130837.3(OPA1):c.2521-14T>A
|
rs2109231109
|
|
NM_130837.3(OPA1):c.2521-14del
|
|
|
NM_130837.3(OPA1):c.2521-155del
|
rs3214982
|
|
NM_130837.3(OPA1):c.2521-16_2521-12del
|
|
|
NM_130837.3(OPA1):c.2521-4A>T
|
|
|
NM_130837.3(OPA1):c.2521-8T>G
|
rs1064797303
|
|
NM_130837.3(OPA1):c.2538C>T (p.Thr846=)
|
|
|
NM_130837.3(OPA1):c.2538del (p.Lys847fs)
|
|
|
NM_130837.3(OPA1):c.253C>G (p.Arg85Gly)
|
rs372435892
|
|
NM_130837.3(OPA1):c.2547_2548del (p.Glu849fs)
|
rs1560041195
|
|
NM_130837.3(OPA1):c.2548T>C (p.Leu850=)
|
|
|
NM_130837.3(OPA1):c.254G>T (p.Arg85Leu)
|
rs35630194
|
|
NM_130837.3(OPA1):c.2550G>A (p.Leu850=)
|
|
|
NM_130837.3(OPA1):c.2551G>T (p.Glu851Ter)
|
rs1553786499
|
|
NM_130837.3(OPA1):c.2568T>C (p.Cys856=)
|
|
|
NM_130837.3(OPA1):c.2569A>G (p.Asn857Asp)
|
rs2109231506
|
|
NM_130837.3(OPA1):c.256del (p.Arg86fs)
|
rs1553871618
|
|
NM_130837.3(OPA1):c.2572G>T (p.Glu858Ter)
|
|
|
NM_130837.3(OPA1):c.2572GAG[1] (p.Glu859del)
|
|
|
NM_130837.3(OPA1):c.2577G>A (p.Glu859=)
|
rs752852244
|
|
NM_130837.3(OPA1):c.2581C>G (p.Pro861Ala)
|
|
|
NM_130837.3(OPA1):c.2593G>A (p.Ala865Thr)
|
|
|
NM_130837.3(OPA1):c.2597G>A (p.Ser866Asn)
|
|
|
NM_130837.3(OPA1):c.2600A>G (p.Asp867Gly)
|
|
|
NM_130837.3(OPA1):c.2613A>G (p.Thr871=)
|
|
|
NM_130837.3(OPA1):c.2622G>A (p.Lys874=)
|
|
|
NM_130837.3(OPA1):c.2631del (p.Glu877fs)
|
|
|
NM_130837.3(OPA1):c.2634C>G (p.Ser878=)
|
|
|
NM_130837.3(OPA1):c.2635C>T (p.Arg879Ter)
|
rs879255593
|
|
NM_130837.3(OPA1):c.2639G>C (p.Gly880Ala)
|
|
|
NM_130837.3(OPA1):c.2642T>C (p.Val881Ala)
|
|
|
NM_130837.3(OPA1):c.2648T>C (p.Val883Ala)
|
|
|
NM_130837.3(OPA1):c.2661+1G>T
|
rs794727392
|
|
NM_130837.3(OPA1):c.2661+2T>C
|
|
|
NM_130837.3(OPA1):c.2661+4A>C
|
|
|
NM_130837.3(OPA1):c.2661+4_2661+5delinsGTAAC
|
rs863224143
|
|
NM_130837.3(OPA1):c.2661+6A>G
|
rs2109232299
|
|
NM_130837.3(OPA1):c.2661G>A (p.Leu887=)
|
rs2109232184
|
|
NM_130837.3(OPA1):c.2662-17_2662-14del
|
|
|
NM_130837.3(OPA1):c.2664_2665delinsAT (p.Lys889Ter)
|
|
|
NM_130837.3(OPA1):c.2685_2686del (p.Val895_Tyr896insTer)
|
|
|
NM_130837.3(OPA1):c.2687A>G (p.Tyr896Cys)
|
|
|
NM_130837.3(OPA1):c.2691A>G (p.Arg897=)
|
rs1716170136
|
|
NM_130837.3(OPA1):c.2693_2695del (p.Arg898_His899delinsAsn)
|
|
|
NM_130837.3(OPA1):c.2697T>C (p.His899=)
|
rs2109253680
|
|
NM_130837.3(OPA1):c.2702dup (p.Leu901fs)
|
rs2109253692
|
|
NM_130837.3(OPA1):c.271G>A (p.Ala91Thr)
|
|
|
NM_130837.3(OPA1):c.2721T>G (p.His907Gln)
|
rs767354521
|
|
NM_130837.3(OPA1):c.272C>G (p.Ala91Gly)
|
rs1085307621
|
|
NM_130837.3(OPA1):c.2733T>C (p.Cys911=)
|
rs2109253955
|
|
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter)
|
rs794727405
|
|
NM_130837.3(OPA1):c.2739A>G (p.Arg913=)
|
|
|
NM_130837.3(OPA1):c.274A>G (p.Arg92Gly)
|
|
|
NM_130837.3(OPA1):c.2751C>G (p.Tyr917Ter)
|
rs1577327315
|
|
NM_130837.3(OPA1):c.2755C>T (p.Gln919Ter)
|
|
|
NM_130837.3(OPA1):c.2766T>C (p.Phe922=)
|
|
|
NM_130837.3(OPA1):c.2767G>A (p.Val923Ile)
|
rs780773698
|
|
NM_130837.3(OPA1):c.2767G>T (p.Val923Leu)
|
|
|
NM_130837.3(OPA1):c.2778+19_2778+20del
|
|
|
NM_130837.3(OPA1):c.2778+23_2778+24del
|
|
|
NM_130837.3(OPA1):c.2778+279_2778+280insAGTAA
|
rs60242040
|
|
NM_130837.3(OPA1):c.2778+3A>G
|
|
|
NM_130837.3(OPA1):c.2778+4A>G
|
rs2109254338
|
|
NM_130837.3(OPA1):c.2778G>A (p.Glu926=)
|
|
|
NM_130837.3(OPA1):c.2779-112A>G
|
rs10804957
|
|
NM_130837.3(OPA1):c.2779-12T>C
|
|
|
NM_130837.3(OPA1):c.2779-13C>A
|
|
|
NM_130837.3(OPA1):c.2779-2A>G
|
|
|
NM_130837.3(OPA1):c.2779-2A>T
|
rs2109267841
|
|
NM_130837.3(OPA1):c.2779-7A>T
|
rs2109267755
|
|
NM_130837.3(OPA1):c.2779-9A>G
|
rs1716524583
|
|
NM_130837.3(OPA1):c.2779-9_2779-7del
|
rs2109267687
|
|
NM_130837.3(OPA1):c.2787C>A (p.Cys929Ter)
|
|
|
NM_130837.3(OPA1):c.278T>C (p.Leu93Ser)
|
rs767232015
|
|
NM_130837.3(OPA1):c.2792A>G (p.Asp931Gly)
|
|
|
NM_130837.3(OPA1):c.2796G>A (p.Val932=)
|
|
|
NM_130837.3(OPA1):c.2802G>A (p.Leu934=)
|
|
|
NM_130837.3(OPA1):c.2808G>C (p.Trp936Cys)
|
|
|
NM_130837.3(OPA1):c.2809C>T (p.Arg937Cys)
|
|
|
NM_130837.3(OPA1):c.2814A>G (p.Ile938Met)
|
|
|
NM_130837.3(OPA1):c.2815C>T (p.Gln939Ter)
|
rs2109268057
|
|
NM_130837.3(OPA1):c.2816A>G (p.Gln939Arg)
|
|
|
NM_130837.3(OPA1):c.2816dup (p.Arg940fs)
|
rs886043317
|
|
NM_130837.3(OPA1):c.2819G>A (p.Arg940His)
|
|
|
NM_130837.3(OPA1):c.2827G>T (p.Ala943Ser)
|
|
|
NM_130837.3(OPA1):c.2829T>C (p.Ala943=)
|
|
|
NM_130837.3(OPA1):c.2835C>A (p.Thr945=)
|
|
|
NM_130837.3(OPA1):c.2835C>T (p.Thr945=)
|
|
|
NM_130837.3(OPA1):c.2836G>A (p.Ala946Thr)
|
|
|
NM_130837.3(OPA1):c.283A>G (p.Thr95Ala)
|
|
|
NM_130837.3(OPA1):c.2840A>C (p.Asn947Thr)
|
rs750518068
|
|
NM_130837.3(OPA1):c.2857C>G (p.Leu953Val)
|
|
|
NM_130837.3(OPA1):c.2857C>T (p.Leu953Phe)
|
|
|
NM_130837.3(OPA1):c.2861del (p.Thr954fs)
|
|
|
NM_130837.3(OPA1):c.2867C>T (p.Thr956Ile)
|
|
|
NM_130837.3(OPA1):c.2868T>C (p.Thr956=)
|
|
|
NM_130837.3(OPA1):c.2869G>T (p.Glu957Ter)
|
|
|
NM_130837.3(OPA1):c.2872+13G>A
|
rs2109268620
|
|
NM_130837.3(OPA1):c.2872+15G>A
|
|
|
NM_130837.3(OPA1):c.2872+15G>T
|
|
|
NM_130837.3(OPA1):c.2872+8A>T
|
|
|
NM_130837.3(OPA1):c.2873-10C>G
|
rs2109277041
|
|
NM_130837.3(OPA1):c.2873-2A>G
|
rs886041438
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_130837.3(OPA1):c.2879G>A (p.Arg960Gln)
|
rs763280368
|
|
NM_130837.3(OPA1):c.2885A>G (p.Glu962Gly)
|
rs863224138
|
|
NM_130837.3(OPA1):c.2885_2983+8del
|
|
|
NM_130837.3(OPA1):c.2892_2896del (p.Asn964fs)
|
rs1553787992
|
|
NM_130837.3(OPA1):c.289C>T (p.Leu97Phe)
|
|
|
NM_130837.3(OPA1):c.2901G>A (p.Glu967=)
|
|
|
NM_130837.3(OPA1):c.2902G>A (p.Val968Ile)
|
rs863224139
|
|
NM_130837.3(OPA1):c.2902G>T (p.Val968Leu)
|
rs863224139
|
|
NM_130837.3(OPA1):c.2912A>T (p.Asp971Val)
|
|
|
NM_130837.3(OPA1):c.2916T>G (p.Phe972Leu)
|
|
|
NM_130837.3(OPA1):c.2924A>C (p.Asp975Ala)
|
|
|
NM_130837.3(OPA1):c.2926G>T (p.Gly976Cys)
|
rs752986280
|
|
NM_130837.3(OPA1):c.2926_2939del (p.Asp975_Gly976insTer)
|
rs1553788026
|
|
NM_130837.3(OPA1):c.2928T>G (p.Gly976=)
|
|
|
NM_130837.3(OPA1):c.292_301del (p.Leu98fs)
|
rs794727289
|
|
NM_130837.3(OPA1):c.2930AGA[2] (p.Lys979del)
|
|
|
NM_130837.3(OPA1):c.2931G>A (p.Glu977=)
|
|
|
NM_130837.3(OPA1):c.2935A>T (p.Lys979Ter)
|
|
|
NM_130837.3(OPA1):c.2940del (p.Lys981fs)
|
rs2109277786
|
|
NM_130837.3(OPA1):c.2945T>G (p.Leu982Trp)
|
rs2109277811
|
|
NM_130837.3(OPA1):c.2951C>G (p.Thr984Ser)
|
rs2109277839
|
|
NM_130837.3(OPA1):c.2954G>A (p.Gly985Asp)
|
rs2109277876
|
|
NM_130837.3(OPA1):c.2962_2966del (p.Val988fs)
|
rs1716781226
|
|
NM_130837.3(OPA1):c.2966A>G (p.Gln989Arg)
|
|
|
NM_130837.3(OPA1):c.2971dup (p.Ala991fs)
|
|
|
NM_130837.3(OPA1):c.2972C>T (p.Ala991Val)
|
|
|
NM_130837.3(OPA1):c.2973G>C (p.Ala991=)
|
rs117475774
|
|
NM_130837.3(OPA1):c.2982C>T (p.Leu994=)
|
|
|
NM_130837.3(OPA1):c.2983+11C>G
|
|
|
NM_130837.3(OPA1):c.2983+11C>T
|
rs1716790786
|
|
NM_130837.3(OPA1):c.2983+13T>C
|
|
|
NM_130837.3(OPA1):c.2983+15C>T
|
|
|
NM_130837.3(OPA1):c.2983+3G>C
|
rs1553788117
|
|
NM_130837.3(OPA1):c.2983+5G>A
|
|
|
NM_130837.3(OPA1):c.2983+6T>A
|
rs1577335678
|
|
NM_130837.3(OPA1):c.2983+6T>C
|
rs1577335678
|
|
NM_130837.3(OPA1):c.2984-18T>C
|
|
|
NM_130837.3(OPA1):c.2984-1G>C
|
|
|
NM_130837.3(OPA1):c.2984-1_2986del
|
rs2109460398
|
|
NM_130837.3(OPA1):c.2987_2988del (p.Lys996fs)
|
rs886043136
|
|
NM_130837.3(OPA1):c.2987_2992del (p.Lys996_Val997del)
|
rs2109460418
|
|
NM_130837.3(OPA1):c.298C>G (p.Leu100Val)
|
|
|
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs)
|
rs879255560
|
|
NM_130837.3(OPA1):c.2991T>C (p.Val997=)
|
rs2109460466
|
|
NM_130837.3(OPA1):c.3003dup (p.Glu1002fs)
|
rs2109460493
|
|
NM_130837.3(OPA1):c.3010C>A (p.Leu1004Ile)
|
|
|
NM_130837.3(OPA1):c.3010C>G (p.Leu1004Val)
|
|
|
NM_130837.3(OPA1):c.3010del (p.Asp1005fs)
|
rs1721762061
|
|
NM_130837.3(OPA1):c.3012T>G (p.Leu1004=)
|
|
|
NM_130837.3(OPA1):c.3013_3019dup (p.Phe1007Ter)
|
rs1553797598
|
|
NM_130837.3(OPA1):c.301C>A (p.Arg101Ser)
|
rs371943668
|
|
NM_130837.3(OPA1):c.3023T>C (p.Ile1008Thr)
|
|
|
NM_130837.3(OPA1):c.3029C>T (p.Ala1010Val)
|
|
|
NM_130837.3(OPA1):c.302G>T (p.Arg101Leu)
|
|
|
NM_130837.3(OPA1):c.3031C>T (p.Leu1011Phe)
|
|
|
NM_130837.3(OPA1):c.3032T>C (p.Leu1011Pro)
|
rs2109460739
|
|
NM_130837.3(OPA1):c.3039G>A (p.Gln1013=)
|
|
|
NM_130837.3(OPA1):c.3040G>C (p.Glu1014Gln)
|
rs2109460771
|
|
NM_130837.3(OPA1):c.305A>C (p.Tyr102Ser)
|
rs530896300
|
|
NM_130837.3(OPA1):c.30C>G (p.Ala10=)
|
|
|
NM_130837.3(OPA1):c.316G>C (p.Gly106Arg)
|
|
|
NM_130837.3(OPA1):c.318A>T (p.Gly106=)
|
rs2108865723
|
|
NM_130837.3(OPA1):c.32+14C>G
|
|
|
NM_130837.3(OPA1):c.320C>A (p.Ser107Ter)
|
|
|
NM_130837.3(OPA1):c.320C>T (p.Ser107Leu)
|
|
|
NM_130837.3(OPA1):c.323C>T (p.Ala108Val)
|
rs2108865778
|
|
NM_130837.3(OPA1):c.327T>G (p.Val109=)
|
|
|
NM_130837.3(OPA1):c.33-8T>G
|
|
|
NM_130837.3(OPA1):c.33-91TG[4]
|
rs58340380
|
|
NM_130837.3(OPA1):c.334G>A (p.Gly112Ser)
|
|
|
NM_130837.3(OPA1):c.336del (p.Tyr113fs)
|
|
|
NM_130837.3(OPA1):c.347A>G (p.Lys116Arg)
|
|
|
NM_130837.3(OPA1):c.351+16C>T
|
rs757122341
|
|
NM_130837.3(OPA1):c.351+228dup
|
rs111333949
|
|
NM_130837.3(OPA1):c.351+78G>A
|
rs113990764
|
|
NM_130837.3(OPA1):c.351+9G>C
|
|
|
NM_130837.3(OPA1):c.352-17A>G
|
|
|
NM_130837.3(OPA1):c.352-5T>C
|
|
|
NM_130837.3(OPA1):c.354T>A (p.Thr118=)
|
|
|
NM_130837.3(OPA1):c.363G>T (p.Gln121His)
|
|
|
NM_130837.3(OPA1):c.379C>A (p.Pro127Thr)
|
|
|
NM_130837.3(OPA1):c.37G>A (p.Val13Ile)
|
|
|
NM_130837.3(OPA1):c.389G>A (p.Ser130Asn)
|
|
|
NM_130837.3(OPA1):c.38T>G (p.Val13Gly)
|
|
|
NM_130837.3(OPA1):c.392A>G (p.Glu131Gly)
|
|
|
NM_130837.3(OPA1):c.3G>A (p.Met1Ile)
|
rs1724946838
|
|
NM_130837.3(OPA1):c.401G>A (p.Trp134Ter)
|
rs2108869161
|
|
NM_130837.3(OPA1):c.402G>T (p.Trp134Cys)
|
rs1478806927
|
|
NM_130837.3(OPA1):c.410C>G (p.Pro137Arg)
|
|
|
NM_130837.3(OPA1):c.414C>T (p.Asp138=)
|
|
|
NM_130837.3(OPA1):c.415A>G (p.Ile139Val)
|
rs2108869216
|
|
NM_130837.3(OPA1):c.417T>G (p.Ile139Met)
|
rs1446797783
|
|
NM_130837.3(OPA1):c.418G>A (p.Val140Met)
|
|
|
NM_130837.3(OPA1):c.429T>C (p.Ile143=)
|
rs761336580
|
|
NM_130837.3(OPA1):c.429TGA[1] (p.Asp144del)
|
rs2108869312
|
|
NM_130837.3(OPA1):c.435G>A (p.Glu145=)
|
|
|
NM_130837.3(OPA1):c.437A>G (p.Tyr146Cys)
|
|
|
NM_130837.3(OPA1):c.438T>C (p.Tyr146=)
|
|
|
NM_130837.3(OPA1):c.441C>T (p.Ile147=)
|
rs750416208
|
|
NM_130837.3(OPA1):c.442G>A (p.Asp148Asn)
|
|
|
NM_130837.3(OPA1):c.446T>G (p.Phe149Cys)
|
rs2108869401
|
|
NM_130837.3(OPA1):c.448+12G>A
|
|
|
NM_130837.3(OPA1):c.448+14A>G
|
|
|
NM_130837.3(OPA1):c.448+17T>C
|
|
|
NM_130837.3(OPA1):c.448+1G>A
|
|
|
NM_130837.3(OPA1):c.449-11A>G
|
rs1729162953
|
|
NM_130837.3(OPA1):c.449-11A>T
|
|
|
NM_130837.3(OPA1):c.449-12_449-5del
|
rs2108877798
|
|
NM_130837.3(OPA1):c.449-13T>C
|
|
|
NM_130837.3(OPA1):c.449-18T>C
|
rs2108877756
|
|
NM_130837.3(OPA1):c.455T>A (p.Ile152Asn)
|
rs2108877878
|
|
NM_130837.3(OPA1):c.472_473delinsGA (p.Ser158Asp)
|
|
|
NM_130837.3(OPA1):c.498A>C (p.Ala166=)
|
|
|
NM_130837.3(OPA1):c.500C>T (p.Pro167Leu)
|
|
|
NM_130837.3(OPA1):c.502G>C (p.Asp168His)
|
|
|
NM_130837.3(OPA1):c.504C>G (p.Asp168Glu)
|
|
|
NM_130837.3(OPA1):c.508G>A (p.Asp170Asn)
|
|
|
NM_130837.3(OPA1):c.513G>A (p.Lys171=)
|
|
|
NM_130837.3(OPA1):c.516T>G (p.Ile172Met)
|
rs863224126
|
|
NM_130837.3(OPA1):c.520G>A (p.Glu174Lys)
|
rs2108878224
|
|
NM_130837.3(OPA1):c.531_533delinsATA (p.Ser177_Leu178delinsArgTer)
|
rs863224141
|
|
NM_130837.3(OPA1):c.533del (p.Leu178fs)
|
|
|
NM_130837.3(OPA1):c.539A>G (p.Lys180Arg)
|
|
|
NM_130837.3(OPA1):c.544T>C (p.Phe182Leu)
|
rs769335936
|
|
NM_130837.3(OPA1):c.556+12G>T
|
|
|
NM_130837.3(OPA1):c.556+13C>T
|
rs1264861993
|
|
NM_130837.3(OPA1):c.556+19G>A
|
|
|
NM_130837.3(OPA1):c.556+3A>G
|
|
|
NM_130837.3(OPA1):c.556+9G>A
|
rs1347459284
|
|
NM_130837.3(OPA1):c.557-11A>G
|
|
|
NM_130837.3(OPA1):c.557-12G>C
|
|
|
NM_130837.3(OPA1):c.557-19T>G
|
|
|
NM_130837.3(OPA1):c.557-1G>C
|
|
|
NM_130837.3(OPA1):c.557-5C>A
|
rs777338418
|
|
NM_130837.3(OPA1):c.558T>G (p.Gly186=)
|
|
|
NM_130837.3(OPA1):c.565T>A (p.Leu189Met)
|
|
|
NM_130837.3(OPA1):c.572G>A (p.Ser191Asn)
|
|
|
NM_130837.3(OPA1):c.576A>T (p.Glu192Asp)
|
rs2108882278
|
|
NM_130837.3(OPA1):c.580A>C (p.Ile194Leu)
|
rs368853243
|
|
NM_130837.3(OPA1):c.580A>G (p.Ile194Val)
|
rs368853243
|
|
NM_130837.3(OPA1):c.581T>C (p.Ile194Thr)
|
|
|
NM_130837.3(OPA1):c.58C>T (p.His20Tyr)
|
|
|
NM_130837.3(OPA1):c.5G>T (p.Trp2Leu)
|
|
|
NM_130837.3(OPA1):c.600T>C (p.Leu200=)
|
|
|
NM_130837.3(OPA1):c.604_605del (p.Leu202fs)
|
rs886043124
|
|
NM_130837.3(OPA1):c.610+12_610+15del
|
|
|
NM_130837.3(OPA1):c.610+360G>A
|
rs1553872542
|
|
NM_130837.3(OPA1):c.610+364G>A
|
rs983041061
|
|
NM_130837.3(OPA1):c.610+5G>C
|
|
|
NM_130837.3(OPA1):c.611-15A>T
|
|
|
NM_130837.3(OPA1):c.611-19T>C
|
rs3772393
|
|
NM_130837.3(OPA1):c.611-19T>G
|
|
|
NM_130837.3(OPA1):c.611-8_611-3del
|
rs1553872701
|
|
NM_130837.3(OPA1):c.611G>C (p.Gly204Ala)
|
|
|
NM_130837.3(OPA1):c.615T>C (p.Ser205=)
|
|
|
NM_130837.3(OPA1):c.627G>A (p.Thr209=)
|
|
|
NM_130837.3(OPA1):c.629_631delinsGC (p.Ala210fs)
|
rs2108889206
|
|
NM_130837.3(OPA1):c.632T>C (p.Phe211Ser)
|
|
|
NM_130837.3(OPA1):c.634A>G (p.Arg212Gly)
|
|
|
NM_130837.3(OPA1):c.636A>C (p.Arg212Ser)
|
|
|
NM_130837.3(OPA1):c.640A>G (p.Thr214Ala)
|
|
|
NM_130837.3(OPA1):c.641C>G (p.Thr214Arg)
|
rs1198238586
|
|
NM_130837.3(OPA1):c.647G>A (p.Arg216His)
|
|
|
NM_130837.3(OPA1):c.665A>G (p.Lys222Arg)
|
rs1729522355
|
|
NM_130837.3(OPA1):c.674G>A (p.Arg225Lys)
|
rs2108889398
|
|
NM_130837.3(OPA1):c.678+11A>C
|
rs371781817
|
|
NM_130837.3(OPA1):c.678+15_678+16del
|
|
|
NM_130837.3(OPA1):c.678+2T>G
|
rs1553872742
|
|
NM_130837.3(OPA1):c.679-19C>A
|
|
|
NM_130837.3(OPA1):c.679-301dup
|
rs35044042
|
|
NM_130837.3(OPA1):c.679-3C>T
|
rs1392546160
|
|
NM_130837.3(OPA1):c.679-7G>A
|
rs373326620
|
|
NM_130837.3(OPA1):c.679-7G>C
|
|
|
NM_130837.3(OPA1):c.679G>T (p.Gly227Cys)
|
|
|
NM_130837.3(OPA1):c.680G>A (p.Gly227Asp)
|
|
|
NM_130837.3(OPA1):c.682C>G (p.Leu228Val)
|
|
|
NM_130837.3(OPA1):c.685C>A (p.Leu229Ile)
|
rs764955203
|
|
NM_130837.3(OPA1):c.696C>G (p.Leu232=)
|
|
|
NM_130837.3(OPA1):c.696C>T (p.Leu232=)
|
rs375209295
|
|
NM_130837.3(OPA1):c.6G>A (p.Trp2Ter)
|
|
|
NM_130837.3(OPA1):c.702C>G (p.Leu234=)
|
|
|
NM_130837.3(OPA1):c.706C>G (p.Gln236Glu)
|
rs779375399
|
|
NM_130837.3(OPA1):c.706C>T (p.Gln236Ter)
|
|
|
NM_130837.3(OPA1):c.706CAA[2] (p.Gln238del)
|
|
|
NM_130837.3(OPA1):c.707A>G (p.Gln236Arg)
|
|
|
NM_130837.3(OPA1):c.712C>G (p.Gln238Glu)
|
rs1131691832
|
|
NM_130837.3(OPA1):c.716T>C (p.Ile239Thr)
|
|
|
NM_130837.3(OPA1):c.718C>A (p.Gln240Lys)
|
|
|
NM_130837.3(OPA1):c.718C>G (p.Gln240Glu)
|
|
|
NM_130837.3(OPA1):c.718C>T (p.Gln240Ter)
|
|
|
NM_130837.3(OPA1):c.722A>G (p.Glu241Gly)
|
|
|
NM_130837.3(OPA1):c.723G>A (p.Glu241=)
|
|
|
NM_130837.3(OPA1):c.727G>A (p.Glu243Lys)
|
|
|
NM_130837.3(OPA1):c.739C>T (p.Arg247Cys)
|
|
|
NM_130837.3(OPA1):c.741C>T (p.Arg247=)
|
|
|
NM_130837.3(OPA1):c.742A>G (p.Arg248Gly)
|
|
|
NM_130837.3(OPA1):c.743G>A (p.Arg248Lys)
|
|
|
NM_130837.3(OPA1):c.747C>T (p.Ala249=)
|
|
|
NM_130837.3(OPA1):c.748del (p.Ala250fs)
|
rs1262868695
|
|
NM_130837.3(OPA1):c.755A>C (p.Gln252Pro)
|
|
|
NM_130837.3(OPA1):c.764C>A (p.Thr255Lys)
|
|
|
NM_130837.3(OPA1):c.764C>T (p.Thr255Met)
|
|
|
NM_130837.3(OPA1):c.768C>G (p.Ser256Arg)
|
|
|
NM_130837.3(OPA1):c.772G>C (p.Ala258Pro)
|
|
|
NM_130837.3(OPA1):c.778C>T (p.Gln260Ter)
|
|
|
NM_130837.3(OPA1):c.77G>A (p.Gly26Glu)
|
rs1473275837
|
|
NM_130837.3(OPA1):c.780_781del (p.Lys261fs)
|
rs954901985
|
|
NM_130837.3(OPA1):c.781A>G (p.Lys261Glu)
|
|
|
NM_130837.3(OPA1):c.785G>A (p.Arg262His)
|
rs201202646
|
|
NM_130837.3(OPA1):c.785G>T (p.Arg262Leu)
|
rs201202646
|
|
NM_130837.3(OPA1):c.789+10G>A
|
|
|
NM_130837.3(OPA1):c.789+13T>A
|
|
|
NM_130837.3(OPA1):c.789+14del
|
|
|
NM_130837.3(OPA1):c.789+15A>G
|
|
|
NM_130837.3(OPA1):c.789+17G>A
|
|
|
NM_130837.3(OPA1):c.789+27G>C
|
rs151279038
|
|
NM_130837.3(OPA1):c.789+6G>T
|
|
|
NM_130837.3(OPA1):c.790-10A>C
|
|
|
NM_130837.3(OPA1):c.790G>A (p.Val264Met)
|
rs1385422732
|
|
NM_130837.3(OPA1):c.794C>T (p.Ser265Leu)
|
rs1553875179
|
|
NM_130837.3(OPA1):c.796_799del (p.Asp266fs)
|
|
|
NM_130837.3(OPA1):c.7C>T (p.Arg3Ter)
|
|
|
NM_130837.3(OPA1):c.800_801del (p.Lys267fs)
|
rs794727804
|
|
NM_130837.3(OPA1):c.804_805del (p.Lys269fs)
|
rs863224142
|
|
NM_130837.3(OPA1):c.820C>T (p.Gln274Ter)
|
rs1732086609
|
|
NM_130837.3(OPA1):c.825A>G (p.Glu275=)
|
rs2108979461
|
|
NM_130837.3(OPA1):c.830T>C (p.Leu277Pro)
|
|
|
NM_130837.3(OPA1):c.832del (p.Leu278fs)
|
rs2108979504
|
|
NM_130837.3(OPA1):c.837C>T (p.His279=)
|
|
|
NM_130837.3(OPA1):c.843+11T>C
|
|
|
NM_130837.3(OPA1):c.843+16A>G
|
rs774591338
|
|
NM_130837.3(OPA1):c.843+4dup
|
|
|
NM_130837.3(OPA1):c.843+5T>C
|
|
|
NM_130837.3(OPA1):c.843+7A>G
|
|
|
NM_130837.3(OPA1):c.843+8T>C
|
|
|
NM_130837.3(OPA1):c.844-12_844-10del
|
|
|
NM_130837.3(OPA1):c.844-20C>A
|
rs2109002122
|
|
NM_130837.3(OPA1):c.844-8T>C
|
|
|
NM_130837.3(OPA1):c.844-8T>G
|
|
|
NM_130837.3(OPA1):c.852T>C (p.Tyr284=)
|
rs863224128
|
|
NM_130837.3(OPA1):c.852T>G (p.Tyr284Ter)
|
rs863224128
|
|
NM_130837.3(OPA1):c.865G>T (p.Glu289Ter)
|
rs1319065221
|
|
NM_130837.3(OPA1):c.868C>T (p.Arg290Ter)
|
rs761743852
|
|
NM_130837.3(OPA1):c.86C>A (p.Pro29Gln)
|
|
|
NM_130837.3(OPA1):c.895A>G (p.Arg299Gly)
|
rs2109002496
|
|
NM_130837.3(OPA1):c.900dup (p.Leu301fs)
|
rs2109002510
|
|
NM_130837.3(OPA1):c.902T>G (p.Leu301Ter)
|
rs1488795500
|
|
NM_130837.3(OPA1):c.926G>A (p.Gly309Asp)
|
|
|
NM_130837.3(OPA1):c.936T>C (p.His312=)
|
|
|
NM_130837.3(OPA1):c.937A>T (p.Arg313Ter)
|
rs2109002680
|
|
NM_130837.3(OPA1):c.93_96dup (p.Leu33fs)
|
rs1728761079
|
|
NM_130837.3(OPA1):c.943C>G (p.Leu315Val)
|
rs866764665
|
|
NM_130837.3(OPA1):c.948+10G>A
|
rs112827399
|
|
NM_130837.3(OPA1):c.948+11T>A
|
|
|
NM_130837.3(OPA1):c.949-12A>T
|
|
|
NM_130837.3(OPA1):c.949-12_949-11insTA
|
rs544490050
|
|
NM_130837.3(OPA1):c.949-13A>T
|
rs1733076711
|
|
NM_130837.3(OPA1):c.949-15T>G
|
|
|
NM_130837.3(OPA1):c.949-16T>C
|
|
|
NM_130837.3(OPA1):c.949-1G>A
|
|
|
NM_130837.3(OPA1):c.949-1G>C
|
rs1733081846
|
|
NM_130837.3(OPA1):c.949-2A>T
|
|
|
NM_130837.3(OPA1):c.949-7T>G
|
|
|
NM_130837.3(OPA1):c.94A>C (p.Lys32Gln)
|
|
|
NM_130837.3(OPA1):c.953C>A (p.Ser318Tyr)
|
|
|
NM_130837.3(OPA1):c.959_962del (p.Ile320fs)
|
rs1064794208
|
|
NM_130837.3(OPA1):c.962A>C (p.Asp321Ala)
|
rs1335020558
|
|
NM_130837.3(OPA1):c.962A>G (p.Asp321Gly)
|
|
|
NM_130837.3(OPA1):c.977T>C (p.Val326Ala)
|
rs760938906
|
|
NM_130837.3(OPA1):c.980T>C (p.Leu327Pro)
|
rs2109011461
|
|
NM_130837.3(OPA1):c.983A>T (p.Asp328Val)
|
rs2109011482
|
|
NM_130837.3(OPA1):c.984T>C (p.Asp328=)
|
|
|
NM_130837.3(OPA1):c.985G>A (p.Val329Ile)
|
rs1347426414
|
|
NM_130837.3(OPA1):c.990C>T (p.Leu330=)
|
rs201242590
|
|
NM_130837.3(OPA1):c.991T>C (p.Ser331Pro)
|
|
|
NM_130837.3(OPA1):c.992_993del (p.Leu330_Ser331insTer)
|
|
|
NM_130837.3(OPA1):c.99A>G (p.Leu33=)
|
|
|