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.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.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.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.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.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.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.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.70A>G (p.Ile24Val)
|
rs201520438
|
0.00017
|
NM_130837.3(OPA1):c.1293C>T (p.Thr431=)
|
rs111488647
|
0.00016
|
NM_130837.3(OPA1):c.2099A>G (p.Asn700Ser)
|
rs142694017
|
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.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.844-4G>A
|
rs377043223
|
0.00005
|
NM_130837.3(OPA1):c.1036-8G>T
|
rs367618769
|
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.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.534A>G (p.Leu178=)
|
rs758901451
|
0.00004
|
NM_130837.3(OPA1):c.617C>T (p.Pro206Leu)
|
rs772090345
|
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.1230+20G>A
|
rs938640104
|
0.00003
|
NM_130837.3(OPA1):c.1557C>T (p.Phe519=)
|
rs779207157
|
0.00003
|
NM_130837.3(OPA1):c.1935+18G>A
|
rs776296586
|
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.33-8T>C
|
rs370303596
|
0.00003
|
NM_130837.3(OPA1):c.448+50A>G
|
rs377239493
|
0.00003
|
NM_130837.3(OPA1):c.611-9A>G
|
rs372157755
|
0.00003
|
NM_130837.3(OPA1):c.1035+20T>C
|
rs368025705
|
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.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.2812A>G (p.Ile938Val)
|
rs149866497
|
0.00002
|
NM_130837.3(OPA1):c.2873-6A>T
|
rs1209769957
|
0.00002
|
NM_130837.3(OPA1):c.2959C>T (p.Arg987Cys)
|
rs145710079
|
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.1036-9T>C
|
rs531187028
|
0.00001
|
NM_130837.3(OPA1):c.1098T>C (p.Ala366=)
|
rs779030198
|
0.00001
|
NM_130837.3(OPA1):c.1149+12G>A
|
rs570927442
|
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.124C>T (p.His42Tyr)
|
rs145563233
|
0.00001
|
NM_130837.3(OPA1):c.127T>C (p.Ser43Pro)
|
rs1315189266
|
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.155G>A (p.Arg52Gln)
|
rs749115822
|
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>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.2012+7A>G
|
rs767488490
|
0.00001
|
NM_130837.3(OPA1):c.2031A>G (p.Gln677=)
|
rs1283596761
|
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.2172A>G (p.Ala724=)
|
rs1577287619
|
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.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.2441-14A>T
|
rs1355408736
|
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.2619G>A (p.Arg873=)
|
rs1577319844
|
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.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.2983+84C>T
|
rs573137605
|
0.00001
|
NM_130837.3(OPA1):c.2984-6C>G
|
rs1477203501
|
0.00001
|
NM_130837.3(OPA1):c.3017C>G (p.Ala1006Gly)
|
rs577055148
|
0.00001
|
NM_130837.3(OPA1):c.449-19A>G
|
rs773009829
|
0.00001
|
NM_130837.3(OPA1):c.517G>A (p.Val173Ile)
|
rs778997114
|
0.00001
|
NM_130837.3(OPA1):c.556+14T>C
|
rs370489098
|
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.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.843+18G>A
|
rs759158013
|
0.00001
|
NM_130837.3(OPA1):c.89T>C (p.Leu30Pro)
|
rs758056583
|
0.00001
|
NM_130837.3(OPA1):c.949-10A>T
|
rs922871849
|
0.00001
|
NM_130837.3(OPA1):c.999T>C (p.Tyr333=)
|
rs1301928434
|
0.00001
|
NM_130837.3(OPA1):c.1003G>A (p.Ala335Thr)
|
|
|
NM_130837.3(OPA1):c.1011T>C (p.Tyr337=)
|
|
|
NM_130837.3(OPA1):c.1017G>A (p.Thr339=)
|
rs758922394
|
|
NM_130837.3(OPA1):c.1017G>T (p.Thr339=)
|
|
|
NM_130837.3(OPA1):c.1035+18A>G
|
|
|
NM_130837.3(OPA1):c.1035+9A>G
|
|
|
NM_130837.3(OPA1):c.1036-4del
|
|
|
NM_130837.3(OPA1):c.1044G>A (p.Val348=)
|
|
|
NM_130837.3(OPA1):c.1065A>G (p.Gly355=)
|
|
|
NM_130837.3(OPA1):c.1074T>C (p.Ser358=)
|
|
|
NM_130837.3(OPA1):c.1077G>A (p.Val359=)
|
|
|
NM_130837.3(OPA1):c.1098T>A (p.Ala366=)
|
|
|
NM_130837.3(OPA1):c.1104A>G (p.Ile368Met)
|
|
|
NM_130837.3(OPA1):c.1110A>G (p.Pro370=)
|
rs1196575724
|
|
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)
|
rs863224140
|
|
NM_130837.3(OPA1):c.1149+13G>A
|
|
|
NM_130837.3(OPA1):c.1149+14C>T
|
|
|
NM_130837.3(OPA1):c.1149+7A>G
|
|
|
NM_130837.3(OPA1):c.1149+9A>G
|
rs2109015355
|
|
NM_130837.3(OPA1):c.115A>G (p.Ser39Gly)
|
|
|
NM_130837.3(OPA1):c.1203G>C (p.Arg401=)
|
|
|
NM_130837.3(OPA1):c.1225G>C (p.Glu409Gln)
|
|
|
NM_130837.3(OPA1):c.1230+21dup
|
rs776036123
|
|
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.1254A>T (p.Ile418=)
|
rs1577240973
|
|
NM_130837.3(OPA1):c.1305+128del
|
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.1306-10T>C
|
rs1734072405
|
|
NM_130837.3(OPA1):c.1306-17T>G
|
|
|
NM_130837.3(OPA1):c.1306-9C>T
|
|
|
NM_130837.3(OPA1):c.1308C>T (p.Thr436=)
|
|
|
NM_130837.3(OPA1):c.1338A>G (p.Leu446=)
|
rs1298210366
|
|
NM_130837.3(OPA1):c.1374T>C (p.Ile458=)
|
|
|
NM_130837.3(OPA1):c.1377+17C>T
|
|
|
NM_130837.3(OPA1):c.1377+8T>C
|
|
|
NM_130837.3(OPA1):c.1378-11T>C
|
|
|
NM_130837.3(OPA1):c.1383G>A (p.Val461=)
|
|
|
NM_130837.3(OPA1):c.138T>A (p.Pro46=)
|
|
|
NM_130837.3(OPA1):c.1404C>T (p.Asp468=)
|
|
|
NM_130837.3(OPA1):c.1407A>C (p.Thr469=)
|
rs1553877924
|
|
NM_130837.3(OPA1):c.1422C>T (p.Phe474=)
|
|
|
NM_130837.3(OPA1):c.1431C>T (p.Ser477=)
|
|
|
NM_130837.3(OPA1):c.1441A>T (p.Met481Leu)
|
|
|
NM_130837.3(OPA1):c.144A>G (p.Leu48=)
|
|
|
NM_130837.3(OPA1):c.1465C>T (p.Leu489=)
|
rs1577243073
|
|
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.150T>G (p.Leu50=)
|
|
|
NM_130837.3(OPA1):c.1515C>T (p.Asp505=)
|
|
|
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.1590T>A (p.Asn530Lys)
|
rs863224137
|
|
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.1614G>A (p.Gln538=)
|
|
|
NM_130837.3(OPA1):c.1626A>G (p.Glu542=)
|
rs1734453026
|
|
NM_130837.3(OPA1):c.1629A>G (p.Gly543=)
|
rs2109057554
|
|
NM_130837.3(OPA1):c.162A>G (p.Gln54=)
|
|
|
NM_130837.3(OPA1):c.1641A>T (p.Pro547=)
|
|
|
NM_130837.3(OPA1):c.1665T>C (p.Ala555=)
|
|
|
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.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.1745A>G (p.Lys582Arg)
|
|
|
NM_130837.3(OPA1):c.1749C>G (p.Leu583=)
|
|
|
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+22T>G
|
|
|
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.1884C>T (p.Asn628=)
|
|
|
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.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.1941A>G (p.Glu647=)
|
|
|
NM_130837.3(OPA1):c.1989G>A (p.Leu663=)
|
rs902810216
|
|
NM_130837.3(OPA1):c.1996G>A (p.Val666Ile)
|
rs200756304
|
|
NM_130837.3(OPA1):c.2010T>C (p.His670=)
|
rs1160567846
|
|
NM_130837.3(OPA1):c.2012+16del
|
|
|
NM_130837.3(OPA1):c.2013-13T>G
|
|
|
NM_130837.3(OPA1):c.2013-14C>T
|
|
|
NM_130837.3(OPA1):c.2016G>A (p.Glu672=)
|
|
|
NM_130837.3(OPA1):c.2058T>C (p.His686=)
|
|
|
NM_130837.3(OPA1):c.2091G>A (p.Gln697=)
|
|
|
NM_130837.3(OPA1):c.2133G>A (p.Lys711=)
|
|
|
NM_130837.3(OPA1):c.2136T>G (p.Leu712=)
|
|
|
NM_130837.3(OPA1):c.2178+19T>C
|
|
|
NM_130837.3(OPA1):c.2184T>C (p.Ala728=)
|
|
|
NM_130837.3(OPA1):c.2184T>G (p.Ala728=)
|
|
|
NM_130837.3(OPA1):c.21C>T (p.Ala7=)
|
|
|
NM_130837.3(OPA1):c.2211C>T (p.Ser737=)
|
|
|
NM_130837.3(OPA1):c.2235G>A (p.Gly745=)
|
|
|
NM_130837.3(OPA1):c.2241G>A (p.Glu747=)
|
|
|
NM_130837.3(OPA1):c.2250C>T (p.Asp750=)
|
|
|
NM_130837.3(OPA1):c.2253A>T (p.Ile751=)
|
|
|
NM_130837.3(OPA1):c.2293A>G (p.Lys765Glu)
|
|
|
NM_130837.3(OPA1):c.2301C>T (p.His767=)
|
|
|
NM_130837.3(OPA1):c.231A>G (p.Pro77=)
|
|
|
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.2332-14_2332-12del
|
|
|
NM_130837.3(OPA1):c.2349T>C (p.Asn783=)
|
|
|
NM_130837.3(OPA1):c.2355G>A (p.Leu785=)
|
rs2109186550
|
|
NM_130837.3(OPA1):c.2361C>T (p.Asp787=)
|
|
|
NM_130837.3(OPA1):c.2364A>G (p.Arg788=)
|
|
|
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.240T>C (p.Tyr80=)
|
|
|
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.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.2480A>G (p.Lys827Arg)
|
|
|
NM_130837.3(OPA1):c.2481A>G (p.Lys827=)
|
|
|
NM_130837.3(OPA1):c.2507G>A (p.Arg836Gln)
|
|
|
NM_130837.3(OPA1):c.2508G>A (p.Arg836=)
|
rs2109193574
|
|
NM_130837.3(OPA1):c.2520+19C>G
|
rs1714733939
|
|
NM_130837.3(OPA1):c.2520+4G>A
|
rs1577307342
|
|
NM_130837.3(OPA1):c.2521-14T>A
|
rs2109231109
|
|
NM_130837.3(OPA1):c.2521-16_2521-12del
|
|
|
NM_130837.3(OPA1):c.2521-4A>T
|
|
|
NM_130837.3(OPA1):c.2538C>T (p.Thr846=)
|
|
|
NM_130837.3(OPA1):c.253C>G (p.Arg85Gly)
|
rs372435892
|
|
NM_130837.3(OPA1):c.2548T>C (p.Leu850=)
|
|
|
NM_130837.3(OPA1):c.2550G>A (p.Leu850=)
|
|
|
NM_130837.3(OPA1):c.2568T>C (p.Cys856=)
|
|
|
NM_130837.3(OPA1):c.2577G>A (p.Glu859=)
|
rs752852244
|
|
NM_130837.3(OPA1):c.2593G>A (p.Ala865Thr)
|
|
|
NM_130837.3(OPA1):c.2613A>G (p.Thr871=)
|
|
|
NM_130837.3(OPA1):c.2622G>A (p.Lys874=)
|
|
|
NM_130837.3(OPA1):c.2634C>G (p.Ser878=)
|
|
|
NM_130837.3(OPA1):c.2662-17_2662-14del
|
|
|
NM_130837.3(OPA1):c.2691A>G (p.Arg897=)
|
rs1716170136
|
|
NM_130837.3(OPA1):c.2697T>C (p.His899=)
|
rs2109253680
|
|
NM_130837.3(OPA1):c.271G>A (p.Ala91Thr)
|
|
|
NM_130837.3(OPA1):c.2733T>C (p.Cys911=)
|
rs2109253955
|
|
NM_130837.3(OPA1):c.2739A>G (p.Arg913=)
|
|
|
NM_130837.3(OPA1):c.2766T>C (p.Phe922=)
|
|
|
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.2779-13C>A
|
|
|
NM_130837.3(OPA1):c.2779-7A>T
|
rs2109267755
|
|
NM_130837.3(OPA1):c.2796G>A (p.Val932=)
|
|
|
NM_130837.3(OPA1):c.2802G>A (p.Leu934=)
|
|
|
NM_130837.3(OPA1):c.2814A>G (p.Ile938Met)
|
|
|
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.2857C>G (p.Leu953Val)
|
|
|
NM_130837.3(OPA1):c.2868T>C (p.Thr956=)
|
|
|
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.2901G>A (p.Glu967=)
|
|
|
NM_130837.3(OPA1):c.2928T>G (p.Gly976=)
|
|
|
NM_130837.3(OPA1):c.2931G>A (p.Glu977=)
|
|
|
NM_130837.3(OPA1):c.2973G>C (p.Ala991=)
|
rs117475774
|
|
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.2984-18T>C
|
|
|
NM_130837.3(OPA1):c.2991T>C (p.Val997=)
|
rs2109460466
|
|
NM_130837.3(OPA1):c.3012T>G (p.Leu1004=)
|
|
|
NM_130837.3(OPA1):c.3023T>C (p.Ile1008Thr)
|
|
|
NM_130837.3(OPA1):c.3031C>T (p.Leu1011Phe)
|
|
|
NM_130837.3(OPA1):c.3039G>A (p.Gln1013=)
|
|
|
NM_130837.3(OPA1):c.30C>G (p.Ala10=)
|
|
|
NM_130837.3(OPA1):c.32+14C>G
|
|
|
NM_130837.3(OPA1):c.327T>G (p.Val109=)
|
|
|
NM_130837.3(OPA1):c.33-8T>G
|
|
|
NM_130837.3(OPA1):c.347A>G (p.Lys116Arg)
|
|
|
NM_130837.3(OPA1):c.351+16C>T
|
rs757122341
|
|
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.414C>T (p.Asp138=)
|
|
|
NM_130837.3(OPA1):c.435G>A (p.Glu145=)
|
|
|
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.448+12G>A
|
|
|
NM_130837.3(OPA1):c.448+14A>G
|
|
|
NM_130837.3(OPA1):c.448+17T>C
|
|
|
NM_130837.3(OPA1):c.449-11A>G
|
rs1729162953
|
|
NM_130837.3(OPA1):c.449-11A>T
|
|
|
NM_130837.3(OPA1):c.449-13T>C
|
|
|
NM_130837.3(OPA1):c.449-18T>C
|
rs2108877756
|
|
NM_130837.3(OPA1):c.498A>C (p.Ala166=)
|
|
|
NM_130837.3(OPA1):c.513G>A (p.Lys171=)
|
|
|
NM_130837.3(OPA1):c.556+12G>T
|
|
|
NM_130837.3(OPA1):c.556+13C>T
|
rs1264861993
|
|
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.557-5C>A
|
rs777338418
|
|
NM_130837.3(OPA1):c.565T>A (p.Leu189Met)
|
|
|
NM_130837.3(OPA1):c.58C>T (p.His20Tyr)
|
|
|
NM_130837.3(OPA1):c.600T>C (p.Leu200=)
|
|
|
NM_130837.3(OPA1):c.610+12_610+15del
|
|
|
NM_130837.3(OPA1):c.611-15A>T
|
|
|
NM_130837.3(OPA1):c.611-19T>G
|
|
|
NM_130837.3(OPA1):c.615T>C (p.Ser205=)
|
|
|
NM_130837.3(OPA1):c.627G>A (p.Thr209=)
|
|
|
NM_130837.3(OPA1):c.647G>A (p.Arg216His)
|
|
|
NM_130837.3(OPA1):c.678+11A>C
|
rs371781817
|
|
NM_130837.3(OPA1):c.678+15_678+16del
|
|
|
NM_130837.3(OPA1):c.679-19C>A
|
|
|
NM_130837.3(OPA1):c.679-301dup
|
rs35044042
|
|
NM_130837.3(OPA1):c.679-7G>A
|
rs373326620
|
|
NM_130837.3(OPA1):c.679-7G>C
|
|
|
NM_130837.3(OPA1):c.680G>A (p.Gly227Asp)
|
|
|
NM_130837.3(OPA1):c.682C>G (p.Leu228Val)
|
|
|
NM_130837.3(OPA1):c.696C>G (p.Leu232=)
|
|
|
NM_130837.3(OPA1):c.696C>T (p.Leu232=)
|
rs375209295
|
|
NM_130837.3(OPA1):c.702C>G (p.Leu234=)
|
|
|
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.723G>A (p.Glu241=)
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|
|
NM_130837.3(OPA1):c.741C>T (p.Arg247=)
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|
|
NM_130837.3(OPA1):c.747C>T (p.Ala249=)
|
|
|
NM_130837.3(OPA1):c.764C>A (p.Thr255Lys)
|
|
|
NM_130837.3(OPA1):c.764C>T (p.Thr255Met)
|
|
|
NM_130837.3(OPA1):c.781A>G (p.Lys261Glu)
|
|
|
NM_130837.3(OPA1):c.785G>A (p.Arg262His)
|
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.825A>G (p.Glu275=)
|
rs2108979461
|
|
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+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.936T>C (p.His312=)
|
|
|
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.949-7T>G
|
|
|
NM_130837.3(OPA1):c.984T>C (p.Asp328=)
|
|
|
NM_130837.3(OPA1):c.990C>T (p.Leu330=)
|
rs201242590
|
|
NM_130837.3(OPA1):c.99A>G (p.Leu33=)
|
|
|