ClinVar Miner

List of variants in gene OPA1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1160
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HGVS dbSNP gnomAD frequency
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=)

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