Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.193662832delCA2586973352OPA1c.2531del (p.Asn844MetfsTer11)
c.2366del (p.Asn789MetfsTer11)
c.2477del (p.Asn826MetfsTer11)
c.2420del (p.Asn807MetfsTer11)
c.2305del
c.*591del (n.*591del)
c.2048del (p.Asn683MetfsTer11)
c.*2447del (n.*2447del)
c.1953del
c.*850del (n.*850del)
c.2360del
c.2381del (p.Asn794MetfsTer11)
c.*1844del (n.*1844del)
c.*967del (n.*967del)
c.1354del
c.2258del (p.Asn753MetfsTer11)
c.2369del (p.Asn790MetfsTer11)
c.2423del (p.Asn808MetfsTer11)
c.2312del (p.Asn771MetfsTer11)
n.582+6089del
c.1997del (p.Asn666MetfsTer11)
c.1994del (p.Asn665MetfsTer11)
n.2785del
n.2620del
n.601-2746del
n.475+7977del
n.600+6089del
3g.193662832A=CA1430270594OPA1c.2531A= (p.Asn844=)
c.2366A= (p.Asn789=)
c.2477A= (p.Asn826=)
c.2420A= (p.Asn807=)
c.2305A=
c.*591A= (n.*591A=)
c.2048A= (p.Asn683=)
c.*2447A= (n.*2447A=)
c.1953A=
c.*850A= (n.*850A=)
c.2360A=
c.2381A= (p.Asn794=)
c.*1844A= (n.*1844A=)
c.*967A= (n.*967A=)
c.1354A=
c.2258A= (p.Asn753=)
c.2369A= (p.Asn790=)
c.2423A= (p.Asn808=)
c.2312A= (p.Asn771=)
n.582+6088T=
c.1997A= (p.Asn666=)
c.1994A= (p.Asn665=)
n.2785A=
n.2620A=
n.601-2747T=
n.475+7976T=
n.600+6088T=
3g.193662832A>CCA355793020OPA1c.2531A>C (p.Asn844Thr)
c.2366A>C (p.Asn789Thr)
c.2477A>C (p.Asn826Thr)
c.2420A>C (p.Asn807Thr)
c.2305A>C
c.*591A>C (n.*591A>C)
c.2048A>C (p.Asn683Thr)
c.*2447A>C (n.*2447A>C)
c.1953A>C
c.*850A>C (n.*850A>C)
c.2360A>C
c.2381A>C (p.Asn794Thr)
c.*1844A>C (n.*1844A>C)
c.*967A>C (n.*967A>C)
c.1354A>C
c.2258A>C (p.Asn753Thr)
c.2369A>C (p.Asn790Thr)
c.2423A>C (p.Asn808Thr)
c.2312A>C (p.Asn771Thr)
n.582+6088T>G
c.1997A>C (p.Asn666Thr)
c.1994A>C (p.Asn665Thr)
n.2785A>C
n.2620A>C
n.601-2747T>G
n.475+7976T>G
n.600+6088T>G
3g.193662832A>GCA2759696OPA1c.2531A>G (p.Asn844Ser)
c.2366A>G (p.Asn789Ser)
c.2477A>G (p.Asn826Ser)
c.2420A>G (p.Asn807Ser)
c.2305A>G
c.*591A>G (n.*591A>G)
c.2048A>G (p.Asn683Ser)
c.*2447A>G (n.*2447A>G)
c.1953A>G
c.*850A>G (n.*850A>G)
c.2360A>G
c.2381A>G (p.Asn794Ser)
c.*1844A>G (n.*1844A>G)
c.*967A>G (n.*967A>G)
c.1354A>G
c.2258A>G (p.Asn753Ser)
c.2369A>G (p.Asn790Ser)
c.2423A>G (p.Asn808Ser)
c.2312A>G (p.Asn771Ser)
n.582+6088T>C
c.1997A>G (p.Asn666Ser)
c.1994A>G (p.Asn665Ser)
n.2785A>G
n.2620A>G
n.601-2747T>C
n.475+7976T>C
n.600+6088T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.193662832A>TCA355793019OPA1c.2531A>T (p.Asn844Ile)
c.2366A>T (p.Asn789Ile)
c.2477A>T (p.Asn826Ile)
c.2420A>T (p.Asn807Ile)
c.2305A>T
c.*591A>T (n.*591A>T)
c.2048A>T (p.Asn683Ile)
c.*2447A>T (n.*2447A>T)
c.1953A>T
c.*850A>T (n.*850A>T)
c.2360A>T
c.2381A>T (p.Asn794Ile)
c.*1844A>T (n.*1844A>T)
c.*967A>T (n.*967A>T)
c.1354A>T
c.2258A>T (p.Asn753Ile)
c.2369A>T (p.Asn790Ile)
c.2423A>T (p.Asn808Ile)
c.2312A>T (p.Asn771Ile)
n.582+6088T>A
c.1997A>T (p.Asn666Ile)
c.1994A>T (p.Asn665Ile)
n.2785A>T
n.2620A>T
n.601-2747T>A
n.475+7976T>A
n.600+6088T>A
3g.193662833T>ACA355793021OPA1c.2532T>A (p.Asn844Lys)
c.2367T>A (p.Asn789Lys)
c.2478T>A (p.Asn826Lys)
c.2421T>A (p.Asn807Lys)
c.2306T>A
c.*592T>A (n.*592T>A)
c.2049T>A (p.Asn683Lys)
c.*2448T>A (n.*2448T>A)
c.1954T>A
c.*851T>A (n.*851T>A)
c.2361T>A
c.2382T>A (p.Asn794Lys)
c.*1845T>A (n.*1845T>A)
c.*968T>A (n.*968T>A)
c.1355T>A
c.2259T>A (p.Asn753Lys)
c.2370T>A (p.Asn790Lys)
c.2424T>A (p.Asn808Lys)
c.2313T>A (p.Asn771Lys)
n.582+6087A>T
c.1998T>A (p.Asn666Lys)
c.1995T>A (p.Asn665Lys)
n.2786T>A
n.2621T>A
n.601-2748A>T
n.475+7975A>T
n.600+6087A>T
3g.193662833T>CCA437441555OPA1c.2532T>C (p.Asn844=)
c.2367T>C (p.Asn789=)
c.2478T>C (p.Asn826=)
c.2421T>C (p.Asn807=)
c.2306T>C
c.*592T>C (n.*592T>C)
c.2049T>C (p.Asn683=)
c.*2448T>C (n.*2448T>C)
c.1954T>C
c.*851T>C (n.*851T>C)
c.2361T>C
c.2382T>C (p.Asn794=)
c.*1845T>C (n.*1845T>C)
c.*968T>C (n.*968T>C)
c.1355T>C
c.2259T>C (p.Asn753=)
c.2370T>C (p.Asn790=)
c.2424T>C (p.Asn808=)
c.2313T>C (p.Asn771=)
n.582+6087A>G
c.1998T>C (p.Asn666=)
c.1995T>C (p.Asn665=)
n.2786T>C
n.2621T>C
n.601-2748A>G
n.475+7975A>G
n.600+6087A>G
 gnomAD v4
3g.193662833T>GCA355793022OPA1c.2532T>G (p.Asn844Lys)
c.2367T>G (p.Asn789Lys)
c.2478T>G (p.Asn826Lys)
c.2421T>G (p.Asn807Lys)
c.2306T>G
c.*592T>G (n.*592T>G)
c.2049T>G (p.Asn683Lys)
c.*2448T>G (n.*2448T>G)
c.1954T>G
c.*851T>G (n.*851T>G)
c.2361T>G
c.2382T>G (p.Asn794Lys)
c.*1845T>G (n.*1845T>G)
c.*968T>G (n.*968T>G)
c.1355T>G
c.2259T>G (p.Asn753Lys)
c.2370T>G (p.Asn790Lys)
c.2424T>G (p.Asn808Lys)
c.2313T>G (p.Asn771Lys)
n.582+6087A>C
c.1998T>G (p.Asn666Lys)
c.1995T>G (p.Asn665Lys)
n.2786T>G
n.2621T>G
n.601-2748A>C
n.475+7975A>C
n.600+6087A>C
3g.193662834G>ACA355793023OPA1c.2533G>A (p.Glu845Lys)
c.2368G>A (p.Glu790Lys)
c.2479G>A (p.Glu827Lys)
c.2422G>A (p.Glu808Lys)
c.2307G>A
c.*593G>A (n.*593G>A)
c.2050G>A (p.Glu684Lys)
c.*2449G>A (n.*2449G>A)
c.1955G>A
c.*852G>A (n.*852G>A)
c.2362G>A
c.2383G>A (p.Glu795Lys)
c.*1846G>A (n.*1846G>A)
c.*969G>A (n.*969G>A)
c.1356G>A
c.2260G>A (p.Glu754Lys)
c.2371G>A (p.Glu791Lys)
c.2425G>A (p.Glu809Lys)
c.2314G>A (p.Glu772Lys)
n.582+6086C>T
c.1999G>A (p.Glu667Lys)
c.1996G>A (p.Glu666Lys)
n.2787G>A
n.2622G>A
n.601-2749C>T
n.475+7974C>T
n.600+6086C>T
3g.193662834G>CCA355793024OPA1c.2533G>C (p.Glu845Gln)
c.2368G>C (p.Glu790Gln)
c.2479G>C (p.Glu827Gln)
c.2422G>C (p.Glu808Gln)
c.2307G>C
c.*593G>C (n.*593G>C)
c.2050G>C (p.Glu684Gln)
c.*2449G>C (n.*2449G>C)
c.1955G>C
c.*852G>C (n.*852G>C)
c.2362G>C
c.2383G>C (p.Glu795Gln)
c.*1846G>C (n.*1846G>C)
c.*969G>C (n.*969G>C)
c.1356G>C
c.2260G>C (p.Glu754Gln)
c.2371G>C (p.Glu791Gln)
c.2425G>C (p.Glu809Gln)
c.2314G>C (p.Glu772Gln)
n.582+6086C>G
c.1999G>C (p.Glu667Gln)
c.1996G>C (p.Glu666Gln)
n.2787G>C
n.2622G>C
n.601-2749C>G
n.475+7974C>G
n.600+6086C>G
3g.193662834G>TCA355793025OPA1c.2533G>T (p.Glu845Ter)
c.2368G>T (p.Glu790Ter)
c.2479G>T (p.Glu827Ter)
c.2422G>T (p.Glu808Ter)
c.2307G>T
c.*593G>T (n.*593G>T)
c.2050G>T (p.Glu684Ter)
c.*2449G>T (n.*2449G>T)
c.1955G>T
c.*852G>T (n.*852G>T)
c.2362G>T
c.2383G>T (p.Glu795Ter)
c.*1846G>T (n.*1846G>T)
c.*969G>T (n.*969G>T)
c.1356G>T
c.2260G>T (p.Glu754Ter)
c.2371G>T (p.Glu791Ter)
c.2425G>T (p.Glu809Ter)
c.2314G>T (p.Glu772Ter)
n.582+6086C>A
c.1999G>T (p.Glu667Ter)
c.1996G>T (p.Glu666Ter)
n.2787G>T
n.2622G>T
n.601-2749C>A
n.475+7974C>A
n.600+6086C>A
3g.193662835A>CCA355793026OPA1c.2534A>C (p.Glu845Ala)
c.2369A>C (p.Glu790Ala)
c.2480A>C (p.Glu827Ala)
c.2423A>C (p.Glu808Ala)
c.2308A>C
c.*594A>C (n.*594A>C)
c.2051A>C (p.Glu684Ala)
c.*2450A>C (n.*2450A>C)
c.1956A>C
c.*853A>C (n.*853A>C)
c.2363A>C
c.2384A>C (p.Glu795Ala)
c.*1847A>C (n.*1847A>C)
c.*970A>C (n.*970A>C)
c.1357A>C
c.2261A>C (p.Glu754Ala)
c.2372A>C (p.Glu791Ala)
c.2426A>C (p.Glu809Ala)
c.2315A>C (p.Glu772Ala)
n.582+6085T>G
c.2000A>C (p.Glu667Ala)
c.1997A>C (p.Glu666Ala)
n.2788A>C
n.2623A>C
n.601-2750T>G
n.475+7973T>G
n.600+6085T>G
3g.193662835A>GCA355793027OPA1c.2534A>G (p.Glu845Gly)
c.2369A>G (p.Glu790Gly)
c.2480A>G (p.Glu827Gly)
c.2423A>G (p.Glu808Gly)
c.2308A>G
c.*594A>G (n.*594A>G)
c.2051A>G (p.Glu684Gly)
c.*2450A>G (n.*2450A>G)
c.1956A>G
c.*853A>G (n.*853A>G)
c.2363A>G
c.2384A>G (p.Glu795Gly)
c.*1847A>G (n.*1847A>G)
c.*970A>G (n.*970A>G)
c.1357A>G
c.2261A>G (p.Glu754Gly)
c.2372A>G (p.Glu791Gly)
c.2426A>G (p.Glu809Gly)
c.2315A>G (p.Glu772Gly)
n.582+6085T>C
c.2000A>G (p.Glu667Gly)
c.1997A>G (p.Glu666Gly)
n.2788A>G
n.2623A>G
n.601-2750T>C
n.475+7973T>C
n.600+6085T>C
3g.193662835A>TCA355793028OPA1c.2534A>T (p.Glu845Val)
c.2369A>T (p.Glu790Val)
c.2480A>T (p.Glu827Val)
c.2423A>T (p.Glu808Val)
c.2308A>T
c.*594A>T (n.*594A>T)
c.2051A>T (p.Glu684Val)
c.*2450A>T (n.*2450A>T)
c.1956A>T
c.*853A>T (n.*853A>T)
c.2363A>T
c.2384A>T (p.Glu795Val)
c.*1847A>T (n.*1847A>T)
c.*970A>T (n.*970A>T)
c.1357A>T
c.2261A>T (p.Glu754Val)
c.2372A>T (p.Glu791Val)
c.2426A>T (p.Glu809Val)
c.2315A>T (p.Glu772Val)
n.582+6085T>A
c.2000A>T (p.Glu667Val)
c.1997A>T (p.Glu666Val)
n.2788A>T
n.2623A>T
n.601-2750T>A
n.475+7973T>A
n.600+6085T>A
3g.193662836A>CCA355793029OPA1c.2535A>C (p.Glu845Asp)
c.2370A>C (p.Glu790Asp)
c.2481A>C (p.Glu827Asp)
c.2424A>C (p.Glu808Asp)
c.2309A>C
c.*595A>C (n.*595A>C)
c.2052A>C (p.Glu684Asp)
c.*2451A>C (n.*2451A>C)
c.1957A>C
c.*854A>C (n.*854A>C)
c.2364A>C
c.2385A>C (p.Glu795Asp)
c.*1848A>C (n.*1848A>C)
c.*971A>C (n.*971A>C)
c.1358A>C
c.2262A>C (p.Glu754Asp)
c.2373A>C (p.Glu791Asp)
c.2427A>C (p.Glu809Asp)
c.2316A>C (p.Glu772Asp)
n.582+6084T>G
c.2001A>C (p.Glu667Asp)
c.1998A>C (p.Glu666Asp)
n.2789A>C
n.2624A>C
n.601-2751T>G
n.475+7972T>G
n.600+6084T>G
3g.193662836A>GCA437441558OPA1c.2535A>G (p.Glu845=)
c.2370A>G (p.Glu790=)
c.2481A>G (p.Glu827=)
c.2424A>G (p.Glu808=)
c.2309A>G
c.*595A>G (n.*595A>G)
c.2052A>G (p.Glu684=)
c.*2451A>G (n.*2451A>G)
c.1957A>G
c.*854A>G (n.*854A>G)
c.2364A>G
c.2385A>G (p.Glu795=)
c.*1848A>G (n.*1848A>G)
c.*971A>G (n.*971A>G)
c.1358A>G
c.2262A>G (p.Glu754=)
c.2373A>G (p.Glu791=)
c.2427A>G (p.Glu809=)
c.2316A>G (p.Glu772=)
n.582+6084T>C
c.2001A>G (p.Glu667=)
c.1998A>G (p.Glu666=)
n.2789A>G
n.2624A>G
n.601-2751T>C
n.475+7972T>C
n.600+6084T>C
3g.193662836A>TCA355793030OPA1c.2535A>T (p.Glu845Asp)
c.2370A>T (p.Glu790Asp)
c.2481A>T (p.Glu827Asp)
c.2424A>T (p.Glu808Asp)
c.2309A>T
c.*595A>T (n.*595A>T)
c.2052A>T (p.Glu684Asp)
c.*2451A>T (n.*2451A>T)
c.1957A>T
c.*854A>T (n.*854A>T)
c.2364A>T
c.2385A>T (p.Glu795Asp)
c.*1848A>T (n.*1848A>T)
c.*971A>T (n.*971A>T)
c.1358A>T
c.2262A>T (p.Glu754Asp)
c.2373A>T (p.Glu791Asp)
c.2427A>T (p.Glu809Asp)
c.2316A>T (p.Glu772Asp)
n.582+6084T>A
c.2001A>T (p.Glu667Asp)
c.1998A>T (p.Glu666Asp)
n.2789A>T
n.2624A>T
n.601-2751T>A
n.475+7972T>A
n.600+6084T>A
3g.193662837A>CCA355793031OPA1c.2536A>C (p.Thr846Pro)
c.2371A>C (p.Thr791Pro)
c.2482A>C (p.Thr828Pro)
c.2425A>C (p.Thr809Pro)
c.2310A>C
c.*596A>C (n.*596A>C)
c.2053A>C (p.Thr685Pro)
c.*2452A>C (n.*2452A>C)
c.1958A>C
c.*855A>C (n.*855A>C)
c.2365A>C
c.2386A>C (p.Thr796Pro)
c.*1849A>C (n.*1849A>C)
c.*972A>C (n.*972A>C)
c.1359A>C
c.2263A>C (p.Thr755Pro)
c.2374A>C (p.Thr792Pro)
c.2428A>C (p.Thr810Pro)
c.2317A>C (p.Thr773Pro)
n.582+6083T>G
c.2002A>C (p.Thr668Pro)
c.1999A>C (p.Thr667Pro)
n.2790A>C
n.2625A>C
n.601-2752T>G
n.475+7971T>G
n.600+6083T>G
3g.193662837A>GCA355793032OPA1c.2536A>G (p.Thr846Ala)
c.2371A>G (p.Thr791Ala)
c.2482A>G (p.Thr828Ala)
c.2425A>G (p.Thr809Ala)
c.2310A>G
c.*596A>G (n.*596A>G)
c.2053A>G (p.Thr685Ala)
c.*2452A>G (n.*2452A>G)
c.1958A>G
c.*855A>G (n.*855A>G)
c.2365A>G
c.2386A>G (p.Thr796Ala)
c.*1849A>G (n.*1849A>G)
c.*972A>G (n.*972A>G)
c.1359A>G
c.2263A>G (p.Thr755Ala)
c.2374A>G (p.Thr792Ala)
c.2428A>G (p.Thr810Ala)
c.2317A>G (p.Thr773Ala)
n.582+6083T>C
c.2002A>G (p.Thr668Ala)
c.1999A>G (p.Thr667Ala)
n.2790A>G
n.2625A>G
n.601-2752T>C
n.475+7971T>C
n.600+6083T>C
3g.193662837A>TCA355793033OPA1c.2536A>T (p.Thr846Ser)
c.2371A>T (p.Thr791Ser)
c.2482A>T (p.Thr828Ser)
c.2425A>T (p.Thr809Ser)
c.2310A>T
c.*596A>T (n.*596A>T)
c.2053A>T (p.Thr685Ser)
c.*2452A>T (n.*2452A>T)
c.1958A>T
c.*855A>T (n.*855A>T)
c.2365A>T
c.2386A>T (p.Thr796Ser)
c.*1849A>T (n.*1849A>T)
c.*972A>T (n.*972A>T)
c.1359A>T
c.2263A>T (p.Thr755Ser)
c.2374A>T (p.Thr792Ser)
c.2428A>T (p.Thr810Ser)
c.2317A>T (p.Thr773Ser)
n.582+6083T>A
c.2002A>T (p.Thr668Ser)
c.1999A>T (p.Thr667Ser)
n.2790A>T
n.2625A>T
n.601-2752T>A
n.475+7971T>A
n.600+6083T>A
3g.193662838C>ACA355793034OPA1c.2537C>A (p.Thr846Asn)
c.2372C>A (p.Thr791Asn)
c.2483C>A (p.Thr828Asn)
c.2426C>A (p.Thr809Asn)
c.2311C>A
c.*597C>A (n.*597C>A)
c.2054C>A (p.Thr685Asn)
c.*2453C>A (n.*2453C>A)
c.1959C>A
c.*856C>A (n.*856C>A)
c.2366C>A
c.2387C>A (p.Thr796Asn)
c.*1850C>A (n.*1850C>A)
c.*973C>A (n.*973C>A)
c.1360C>A
c.2264C>A (p.Thr755Asn)
c.2375C>A (p.Thr792Asn)
c.2429C>A (p.Thr810Asn)
c.2318C>A (p.Thr773Asn)
n.582+6082G>T
c.2003C>A (p.Thr668Asn)
c.2000C>A (p.Thr667Asn)
n.2791C>A
n.2626C>A
n.601-2753G>T
n.475+7970G>T
n.600+6082G>T
3g.193662838C>GCA355793036OPA1c.2537C>G (p.Thr846Ser)
c.2372C>G (p.Thr791Ser)
c.2483C>G (p.Thr828Ser)
c.2426C>G (p.Thr809Ser)
c.2311C>G
c.*597C>G (n.*597C>G)
c.2054C>G (p.Thr685Ser)
c.*2453C>G (n.*2453C>G)
c.1959C>G
c.*856C>G (n.*856C>G)
c.2366C>G
c.2387C>G (p.Thr796Ser)
c.*1850C>G (n.*1850C>G)
c.*973C>G (n.*973C>G)
c.1360C>G
c.2264C>G (p.Thr755Ser)
c.2375C>G (p.Thr792Ser)
c.2429C>G (p.Thr810Ser)
c.2318C>G (p.Thr773Ser)
n.582+6082G>C
c.2003C>G (p.Thr668Ser)
c.2000C>G (p.Thr667Ser)
n.2791C>G
n.2626C>G
n.601-2753G>C
n.475+7970G>C
n.600+6082G>C
3g.193662838C>TCA355793035OPA1c.2537C>T (p.Thr846Ile)
c.2372C>T (p.Thr791Ile)
c.2483C>T (p.Thr828Ile)
c.2426C>T (p.Thr809Ile)
c.2311C>T
c.*597C>T (n.*597C>T)
c.2054C>T (p.Thr685Ile)
c.*2453C>T (n.*2453C>T)
c.1959C>T
c.*856C>T (n.*856C>T)
c.2366C>T
c.2387C>T (p.Thr796Ile)
c.*1850C>T (n.*1850C>T)
c.*973C>T (n.*973C>T)
c.1360C>T
c.2264C>T (p.Thr755Ile)
c.2375C>T (p.Thr792Ile)
c.2429C>T (p.Thr810Ile)
c.2318C>T (p.Thr773Ile)
n.582+6082G>A
c.2003C>T (p.Thr668Ile)
c.2000C>T (p.Thr667Ile)
n.2791C>T
n.2626C>T
n.601-2753G>A
n.475+7970G>A
n.600+6082G>A
 gnomAD v4
3g.193662839delCA2739265864OPA1c.2538del (p.Lys847ArgfsTer8)
c.2373del (p.Lys792ArgfsTer8)
c.2484del (p.Lys829ArgfsTer8)
c.2427del (p.Lys810ArgfsTer8)
c.2312del
c.*598del (n.*598del)
c.2055del (p.Lys686ArgfsTer8)
c.*2454del (n.*2454del)
c.1960del
c.*857del (n.*857del)
c.2367del
c.2388del (p.Lys797ArgfsTer8)
c.*1851del (n.*1851del)
c.*974del (n.*974del)
c.1361del
c.2265del (p.Lys756ArgfsTer8)
c.2376del (p.Lys793ArgfsTer8)
c.2430del (p.Lys811ArgfsTer8)
c.2319del (p.Lys774ArgfsTer8)
n.582+6082del
c.2004del (p.Lys669ArgfsTer8)
c.2001del (p.Lys668ArgfsTer8)
n.2792del
n.2627del
n.601-2753del
n.475+7970del
n.600+6082del
 ClinVar
3g.193662839C>ACA437441561OPA1c.2538C>A (p.Thr846=)
c.2373C>A (p.Thr791=)
c.2484C>A (p.Thr828=)
c.2427C>A (p.Thr809=)
c.2312C>A
c.*598C>A (n.*598C>A)
c.2055C>A (p.Thr685=)
c.*2454C>A (n.*2454C>A)
c.1960C>A
c.*857C>A (n.*857C>A)
c.2367C>A
c.2388C>A (p.Thr796=)
c.*1851C>A (n.*1851C>A)
c.*974C>A (n.*974C>A)
c.1361C>A
c.2265C>A (p.Thr755=)
c.2376C>A (p.Thr792=)
c.2430C>A (p.Thr810=)
c.2319C>A (p.Thr773=)
n.582+6081G>T
c.2004C>A (p.Thr668=)
c.2001C>A (p.Thr667=)
n.2792C>A
n.2627C>A
n.601-2754G>T
n.475+7969G>T
n.600+6081G>T
3g.193662839C>GCA437441560OPA1c.2538C>G (p.Thr846=)
c.2373C>G (p.Thr791=)
c.2484C>G (p.Thr828=)
c.2427C>G (p.Thr809=)
c.2312C>G
c.*598C>G (n.*598C>G)
c.2055C>G (p.Thr685=)
c.*2454C>G (n.*2454C>G)
c.1960C>G
c.*857C>G (n.*857C>G)
c.2367C>G
c.2388C>G (p.Thr796=)
c.*1851C>G (n.*1851C>G)
c.*974C>G (n.*974C>G)
c.1361C>G
c.2265C>G (p.Thr755=)
c.2376C>G (p.Thr792=)
c.2430C>G (p.Thr810=)
c.2319C>G (p.Thr773=)
n.582+6081G>C
c.2004C>G (p.Thr668=)
c.2001C>G (p.Thr667=)
n.2792C>G
n.2627C>G
n.601-2754G>C
n.475+7969G>C
n.600+6081G>C
3g.193662839C>TCA437441559OPA1c.2538C>T (p.Thr846=)
c.2373C>T (p.Thr791=)
c.2484C>T (p.Thr828=)
c.2427C>T (p.Thr809=)
c.2312C>T
c.*598C>T (n.*598C>T)
c.2055C>T (p.Thr685=)
c.*2454C>T (n.*2454C>T)
c.1960C>T
c.*857C>T (n.*857C>T)
c.2367C>T
c.2388C>T (p.Thr796=)
c.*1851C>T (n.*1851C>T)
c.*974C>T (n.*974C>T)
c.1361C>T
c.2265C>T (p.Thr755=)
c.2376C>T (p.Thr792=)
c.2430C>T (p.Thr810=)
c.2319C>T (p.Thr773=)
n.582+6081G>A
c.2004C>T (p.Thr668=)
c.2001C>T (p.Thr667=)
n.2792C>T
n.2627C>T
n.601-2754G>A
n.475+7969G>A
n.600+6081G>A
 ClinVar
3g.193662840A>CCA355793037OPA1c.2539A>C (p.Lys847Gln)
c.2374A>C (p.Lys792Gln)
c.2485A>C (p.Lys829Gln)
c.2428A>C (p.Lys810Gln)
c.2313A>C
c.*599A>C (n.*599A>C)
c.2056A>C (p.Lys686Gln)
c.*2455A>C (n.*2455A>C)
c.1961A>C
c.*858A>C (n.*858A>C)
c.2368A>C
c.2389A>C (p.Lys797Gln)
c.*1852A>C (n.*1852A>C)
c.*975A>C (n.*975A>C)
c.1362A>C
c.2266A>C (p.Lys756Gln)
c.2377A>C (p.Lys793Gln)
c.2431A>C (p.Lys811Gln)
c.2320A>C (p.Lys774Gln)
n.582+6080T>G
c.2005A>C (p.Lys669Gln)
c.2002A>C (p.Lys668Gln)
n.2793A>C
n.2628A>C
n.601-2755T>G
n.475+7968T>G
n.600+6080T>G
3g.193662840A>GCA355793038OPA1c.2539A>G (p.Lys847Glu)
c.2374A>G (p.Lys792Glu)
c.2485A>G (p.Lys829Glu)
c.2428A>G (p.Lys810Glu)
c.2313A>G
c.*599A>G (n.*599A>G)
c.2056A>G (p.Lys686Glu)
c.*2455A>G (n.*2455A>G)
c.1961A>G
c.*858A>G (n.*858A>G)
c.2368A>G
c.2389A>G (p.Lys797Glu)
c.*1852A>G (n.*1852A>G)
c.*975A>G (n.*975A>G)
c.1362A>G
c.2266A>G (p.Lys756Glu)
c.2377A>G (p.Lys793Glu)
c.2431A>G (p.Lys811Glu)
c.2320A>G (p.Lys774Glu)
n.582+6080T>C
c.2005A>G (p.Lys669Glu)
c.2002A>G (p.Lys668Glu)
n.2793A>G
n.2628A>G
n.601-2755T>C
n.475+7968T>C
n.600+6080T>C
3g.193662840A>TCA355793039OPA1c.2539A>T (p.Lys847Ter)
c.2374A>T (p.Lys792Ter)
c.2485A>T (p.Lys829Ter)
c.2428A>T (p.Lys810Ter)
c.2313A>T
c.*599A>T (n.*599A>T)
c.2056A>T (p.Lys686Ter)
c.*2455A>T (n.*2455A>T)
c.1961A>T
c.*858A>T (n.*858A>T)
c.2368A>T
c.2389A>T (p.Lys797Ter)
c.*1852A>T (n.*1852A>T)
c.*975A>T (n.*975A>T)
c.1362A>T
c.2266A>T (p.Lys756Ter)
c.2377A>T (p.Lys793Ter)
c.2431A>T (p.Lys811Ter)
c.2320A>T (p.Lys774Ter)
n.582+6080T>A
c.2005A>T (p.Lys669Ter)
c.2002A>T (p.Lys668Ter)
n.2793A>T
n.2628A>T
n.601-2755T>A
n.475+7968T>A
n.600+6080T>A
3g.193662841A>CCA355793040OPA1c.2540A>C (p.Lys847Thr)
c.2375A>C (p.Lys792Thr)
c.2486A>C (p.Lys829Thr)
c.2429A>C (p.Lys810Thr)
c.2314A>C
c.*600A>C (n.*600A>C)
c.2057A>C (p.Lys686Thr)
c.*2456A>C (n.*2456A>C)
c.1962A>C
c.*859A>C (n.*859A>C)
c.2369A>C
c.2390A>C (p.Lys797Thr)
c.*1853A>C (n.*1853A>C)
c.*976A>C (n.*976A>C)
c.1363A>C
c.2267A>C (p.Lys756Thr)
c.2378A>C (p.Lys793Thr)
c.2432A>C (p.Lys811Thr)
c.2321A>C (p.Lys774Thr)
n.582+6079T>G
c.2006A>C (p.Lys669Thr)
c.2003A>C (p.Lys668Thr)
n.2794A>C
n.2629A>C
n.601-2756T>G
n.475+7967T>G
n.600+6079T>G
3g.193662841A>GCA355793041OPA1c.2540A>G (p.Lys847Arg)
c.2375A>G (p.Lys792Arg)
c.2486A>G (p.Lys829Arg)
c.2429A>G (p.Lys810Arg)
c.2314A>G
c.*600A>G (n.*600A>G)
c.2057A>G (p.Lys686Arg)
c.*2456A>G (n.*2456A>G)
c.1962A>G
c.*859A>G (n.*859A>G)
c.2369A>G
c.2390A>G (p.Lys797Arg)
c.*1853A>G (n.*1853A>G)
c.*976A>G (n.*976A>G)
c.1363A>G
c.2267A>G (p.Lys756Arg)
c.2378A>G (p.Lys793Arg)
c.2432A>G (p.Lys811Arg)
c.2321A>G (p.Lys774Arg)
n.582+6079T>C
c.2006A>G (p.Lys669Arg)
c.2003A>G (p.Lys668Arg)
n.2794A>G
n.2629A>G
n.601-2756T>C
n.475+7967T>C
n.600+6079T>C
3g.193662841A>TCA355793042OPA1c.2540A>T (p.Lys847Met)
c.2375A>T (p.Lys792Met)
c.2486A>T (p.Lys829Met)
c.2429A>T (p.Lys810Met)
c.2314A>T
c.*600A>T (n.*600A>T)
c.2057A>T (p.Lys686Met)
c.*2456A>T (n.*2456A>T)
c.1962A>T
c.*859A>T (n.*859A>T)
c.2369A>T
c.2390A>T (p.Lys797Met)
c.*1853A>T (n.*1853A>T)
c.*976A>T (n.*976A>T)
c.1363A>T
c.2267A>T (p.Lys756Met)
c.2378A>T (p.Lys793Met)
c.2432A>T (p.Lys811Met)
c.2321A>T (p.Lys774Met)
n.582+6079T>A
c.2006A>T (p.Lys669Met)
c.2003A>T (p.Lys668Met)
n.2794A>T
n.2629A>T
n.601-2756T>A
n.475+7967T>A
n.600+6079T>A
3g.193662842G>ACA437441563OPA1c.2541G>A (p.Lys847=)
c.2376G>A (p.Lys792=)
c.2487G>A (p.Lys829=)
c.2430G>A (p.Lys810=)
c.2315G>A
c.*601G>A (n.*601G>A)
c.2058G>A (p.Lys686=)
c.*2457G>A (n.*2457G>A)
c.1963G>A
c.*860G>A (n.*860G>A)
c.2370G>A
c.2391G>A (p.Lys797=)
c.*1854G>A (n.*1854G>A)
c.*977G>A (n.*977G>A)
c.1364G>A
c.2268G>A (p.Lys756=)
c.2379G>A (p.Lys793=)
c.2433G>A (p.Lys811=)
c.2322G>A (p.Lys774=)
n.582+6078C>T
c.2007G>A (p.Lys669=)
c.2004G>A (p.Lys668=)
n.2795G>A
n.2630G>A
n.601-2757C>T
n.475+7966C>T
n.600+6078C>T
 dbSNP gnomAD v3 gnomAD v4
3g.193662842G>CCA355793043OPA1c.2541G>C (p.Lys847Asn)
c.2376G>C (p.Lys792Asn)
c.2487G>C (p.Lys829Asn)
c.2430G>C (p.Lys810Asn)
c.2315G>C
c.*601G>C (n.*601G>C)
c.2058G>C (p.Lys686Asn)
c.*2457G>C (n.*2457G>C)
c.1963G>C
c.*860G>C (n.*860G>C)
c.2370G>C
c.2391G>C (p.Lys797Asn)
c.*1854G>C (n.*1854G>C)
c.*977G>C (n.*977G>C)
c.1364G>C
c.2268G>C (p.Lys756Asn)
c.2379G>C (p.Lys793Asn)
c.2433G>C (p.Lys811Asn)
c.2322G>C (p.Lys774Asn)
n.582+6078C>G
c.2007G>C (p.Lys669Asn)
c.2004G>C (p.Lys668Asn)
n.2795G>C
n.2630G>C
n.601-2757C>G
n.475+7966C>G
n.600+6078C>G
3g.193662842G=CA1430270601OPA1c.2541G= (p.Lys847=)
c.2376G= (p.Lys792=)
c.2487G= (p.Lys829=)
c.2430G= (p.Lys810=)
c.2315G=
c.*601G= (n.*601G=)
c.2058G= (p.Lys686=)
c.*2457G= (n.*2457G=)
c.1963G=
c.*860G= (n.*860G=)
c.2370G=
c.2391G= (p.Lys797=)
c.*1854G= (n.*1854G=)
c.*977G= (n.*977G=)
c.1364G=
c.2268G= (p.Lys756=)
c.2379G= (p.Lys793=)
c.2433G= (p.Lys811=)
c.2322G= (p.Lys774=)
n.582+6078C=
c.2007G= (p.Lys669=)
c.2004G= (p.Lys668=)
n.2795G=
n.2630G=
n.601-2757C=
n.475+7966C=
n.600+6078C=
3g.193662842G>TCA355793044OPA1c.2541G>T (p.Lys847Asn)
c.2376G>T (p.Lys792Asn)
c.2487G>T (p.Lys829Asn)
c.2430G>T (p.Lys810Asn)
c.2315G>T
c.*601G>T (n.*601G>T)
c.2058G>T (p.Lys686Asn)
c.*2457G>T (n.*2457G>T)
c.1963G>T
c.*860G>T (n.*860G>T)
c.2370G>T
c.2391G>T (p.Lys797Asn)
c.*1854G>T (n.*1854G>T)
c.*977G>T (n.*977G>T)
c.1364G>T
c.2268G>T (p.Lys756Asn)
c.2379G>T (p.Lys793Asn)
c.2433G>T (p.Lys811Asn)
c.2322G>T (p.Lys774Asn)
n.582+6078C>A
c.2007G>T (p.Lys669Asn)
c.2004G>T (p.Lys668Asn)
n.2795G>T
n.2630G>T
n.601-2757C>A
n.475+7966C>A
n.600+6078C>A
 gnomAD v4
3g.193662843A>CCA355793045OPA1c.2542A>C (p.Asn848His)
c.2377A>C (p.Asn793His)
c.2488A>C (p.Asn830His)
c.2431A>C (p.Asn811His)
c.2316A>C
c.*602A>C (n.*602A>C)
c.2059A>C (p.Asn687His)
c.*2458A>C (n.*2458A>C)
c.1964A>C
c.*861A>C (n.*861A>C)
c.2371A>C
c.2392A>C (p.Asn798His)
c.*1855A>C (n.*1855A>C)
c.*978A>C (n.*978A>C)
c.1365A>C
c.2269A>C (p.Asn757His)
c.2380A>C (p.Asn794His)
c.2434A>C (p.Asn812His)
c.2323A>C (p.Asn775His)
n.582+6077T>G
c.2008A>C (p.Asn670His)
c.2005A>C (p.Asn669His)
n.2796A>C
n.2631A>C
n.601-2758T>G
n.475+7965T>G
n.600+6077T>G
3g.193662843A>GCA355793046OPA1c.2542A>G (p.Asn848Asp)
c.2377A>G (p.Asn793Asp)
c.2488A>G (p.Asn830Asp)
c.2431A>G (p.Asn811Asp)
c.2316A>G
c.*602A>G (n.*602A>G)
c.2059A>G (p.Asn687Asp)
c.*2458A>G (n.*2458A>G)
c.1964A>G
c.*861A>G (n.*861A>G)
c.2371A>G
c.2392A>G (p.Asn798Asp)
c.*1855A>G (n.*1855A>G)
c.*978A>G (n.*978A>G)
c.1365A>G
c.2269A>G (p.Asn757Asp)
c.2380A>G (p.Asn794Asp)
c.2434A>G (p.Asn812Asp)
c.2323A>G (p.Asn775Asp)
n.582+6077T>C
c.2008A>G (p.Asn670Asp)
c.2005A>G (p.Asn669Asp)
n.2796A>G
n.2631A>G
n.601-2758T>C
n.475+7965T>C
n.600+6077T>C
3g.193662843A>TCA355793047OPA1c.2542A>T (p.Asn848Tyr)
c.2377A>T (p.Asn793Tyr)
c.2488A>T (p.Asn830Tyr)
c.2431A>T (p.Asn811Tyr)
c.2316A>T
c.*602A>T (n.*602A>T)
c.2059A>T (p.Asn687Tyr)
c.*2458A>T (n.*2458A>T)
c.1964A>T
c.*861A>T (n.*861A>T)
c.2371A>T
c.2392A>T (p.Asn798Tyr)
c.*1855A>T (n.*1855A>T)
c.*978A>T (n.*978A>T)
c.1365A>T
c.2269A>T (p.Asn757Tyr)
c.2380A>T (p.Asn794Tyr)
c.2434A>T (p.Asn812Tyr)
c.2323A>T (p.Asn775Tyr)
n.582+6077T>A
c.2008A>T (p.Asn670Tyr)
c.2005A>T (p.Asn669Tyr)
n.2796A>T
n.2631A>T
n.601-2758T>A
n.475+7965T>A
n.600+6077T>A
 gnomAD v4
3g.193662844A>CCA355793049OPA1c.2543A>C (p.Asn848Thr)
c.2378A>C (p.Asn793Thr)
c.2489A>C (p.Asn830Thr)
c.2432A>C (p.Asn811Thr)
c.2317A>C
c.*603A>C (n.*603A>C)
c.2060A>C (p.Asn687Thr)
c.*2459A>C (n.*2459A>C)
c.1965A>C
c.*862A>C (n.*862A>C)
c.2372A>C
c.2393A>C (p.Asn798Thr)
c.*1856A>C (n.*1856A>C)
c.*979A>C (n.*979A>C)
c.1366A>C
c.2270A>C (p.Asn757Thr)
c.2381A>C (p.Asn794Thr)
c.2435A>C (p.Asn812Thr)
c.2324A>C (p.Asn775Thr)
n.582+6076T>G
c.2009A>C (p.Asn670Thr)
c.2006A>C (p.Asn669Thr)
n.2797A>C
n.2632A>C
n.601-2759T>G
n.475+7964T>G
n.600+6076T>G
3g.193662844A>GCA355793050OPA1c.2543A>G (p.Asn848Ser)
c.2378A>G (p.Asn793Ser)
c.2489A>G (p.Asn830Ser)
c.2432A>G (p.Asn811Ser)
c.2317A>G
c.*603A>G (n.*603A>G)
c.2060A>G (p.Asn687Ser)
c.*2459A>G (n.*2459A>G)
c.1965A>G
c.*862A>G (n.*862A>G)
c.2372A>G
c.2393A>G (p.Asn798Ser)
c.*1856A>G (n.*1856A>G)
c.*979A>G (n.*979A>G)
c.1366A>G
c.2270A>G (p.Asn757Ser)
c.2381A>G (p.Asn794Ser)
c.2435A>G (p.Asn812Ser)
c.2324A>G (p.Asn775Ser)
n.582+6076T>C
c.2009A>G (p.Asn670Ser)
c.2006A>G (p.Asn669Ser)
n.2797A>G
n.2632A>G
n.601-2759T>C
n.475+7964T>C
n.600+6076T>C
 gnomAD v4
3g.193662844A>TCA355793048OPA1c.2543A>T (p.Asn848Ile)
c.2378A>T (p.Asn793Ile)
c.2489A>T (p.Asn830Ile)
c.2432A>T (p.Asn811Ile)
c.2317A>T
c.*603A>T (n.*603A>T)
c.2060A>T (p.Asn687Ile)
c.*2459A>T (n.*2459A>T)
c.1965A>T
c.*862A>T (n.*862A>T)
c.2372A>T
c.2393A>T (p.Asn798Ile)
c.*1856A>T (n.*1856A>T)
c.*979A>T (n.*979A>T)
c.1366A>T
c.2270A>T (p.Asn757Ile)
c.2381A>T (p.Asn794Ile)
c.2435A>T (p.Asn812Ile)
c.2324A>T (p.Asn775Ile)
n.582+6076T>A
c.2009A>T (p.Asn670Ile)
c.2006A>T (p.Asn669Ile)
n.2797A>T
n.2632A>T
n.601-2759T>A
n.475+7964T>A
n.600+6076T>A
3g.193662845T>ACA2759697OPA1c.2544T>A (p.Asn848Lys)
c.2379T>A (p.Asn793Lys)
c.2490T>A (p.Asn830Lys)
c.2433T>A (p.Asn811Lys)
c.2318T>A
c.*604T>A (n.*604T>A)
c.2061T>A (p.Asn687Lys)
c.*2460T>A (n.*2460T>A)
c.1966T>A
c.*863T>A (n.*863T>A)
c.2373T>A
c.2394T>A (p.Asn798Lys)
c.*1857T>A (n.*1857T>A)
c.*980T>A (n.*980T>A)
c.1367T>A
c.2271T>A (p.Asn757Lys)
c.2382T>A (p.Asn794Lys)
c.2436T>A (p.Asn812Lys)
c.2325T>A (p.Asn775Lys)
n.582+6075A>T
c.2010T>A (p.Asn670Lys)
c.2007T>A (p.Asn669Lys)
n.2798T>A
n.2633T>A
n.601-2760A>T
n.475+7963A>T
n.600+6075A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.193662845T>CCA437441564OPA1c.2544T>C (p.Asn848=)
c.2379T>C (p.Asn793=)
c.2490T>C (p.Asn830=)
c.2433T>C (p.Asn811=)
c.2318T>C
c.*604T>C (n.*604T>C)
c.2061T>C (p.Asn687=)
c.*2460T>C (n.*2460T>C)
c.1966T>C
c.*863T>C (n.*863T>C)
c.2373T>C
c.2394T>C (p.Asn798=)
c.*1857T>C (n.*1857T>C)
c.*980T>C (n.*980T>C)
c.1367T>C
c.2271T>C (p.Asn757=)
c.2382T>C (p.Asn794=)
c.2436T>C (p.Asn812=)
c.2325T>C (p.Asn775=)
n.582+6075A>G
c.2010T>C (p.Asn670=)
c.2007T>C (p.Asn669=)
n.2798T>C
n.2633T>C
n.601-2760A>G
n.475+7963A>G
n.600+6075A>G
 dbSNP gnomAD v4
3g.193662845T>GCA355793051OPA1c.2544T>G (p.Asn848Lys)
c.2379T>G (p.Asn793Lys)
c.2490T>G (p.Asn830Lys)
c.2433T>G (p.Asn811Lys)
c.2318T>G
c.*604T>G (n.*604T>G)
c.2061T>G (p.Asn687Lys)
c.*2460T>G (n.*2460T>G)
c.1966T>G
c.*863T>G (n.*863T>G)
c.2373T>G
c.2394T>G (p.Asn798Lys)
c.*1857T>G (n.*1857T>G)
c.*980T>G (n.*980T>G)
c.1367T>G
c.2271T>G (p.Asn757Lys)
c.2382T>G (p.Asn794Lys)
c.2436T>G (p.Asn812Lys)
c.2325T>G (p.Asn775Lys)
n.582+6075A>C
c.2010T>G (p.Asn670Lys)
c.2007T>G (p.Asn669Lys)
n.2798T>G
n.2633T>G
n.601-2760A>C
n.475+7963A>C
n.600+6075A>C
3g.193662845T=CA1430270607OPA1c.2544T= (p.Asn848=)
c.2379T= (p.Asn793=)
c.2490T= (p.Asn830=)
c.2433T= (p.Asn811=)
c.2318T=
c.*604T= (n.*604T=)
c.2061T= (p.Asn687=)
c.*2460T= (n.*2460T=)
c.1966T=
c.*863T= (n.*863T=)
c.2373T=
c.2394T= (p.Asn798=)
c.*1857T= (n.*1857T=)
c.*980T= (n.*980T=)
c.1367T=
c.2271T= (p.Asn757=)
c.2382T= (p.Asn794=)
c.2436T= (p.Asn812=)
c.2325T= (p.Asn775=)
n.582+6075A=
c.2010T= (p.Asn670=)
c.2007T= (p.Asn669=)
n.2798T=
n.2633T=
n.601-2760A=
n.475+7963A=
n.600+6075A=
3g.193662846G>ACA355793052OPA1c.2545G>A (p.Glu849Lys)
c.2380G>A (p.Glu794Lys)
c.2491G>A (p.Glu831Lys)
c.2434G>A (p.Glu812Lys)
c.2319G>A
c.*605G>A (n.*605G>A)
c.2062G>A (p.Glu688Lys)
c.*2461G>A (n.*2461G>A)
c.1967G>A
c.*864G>A (n.*864G>A)
c.2374G>A
c.2395G>A (p.Glu799Lys)
c.*1858G>A (n.*1858G>A)
c.*981G>A (n.*981G>A)
c.1368G>A
c.2272G>A (p.Glu758Lys)
c.2383G>A (p.Glu795Lys)
c.2437G>A (p.Glu813Lys)
c.2326G>A (p.Glu776Lys)
n.582+6074C>T
c.2011G>A (p.Glu671Lys)
c.2008G>A (p.Glu670Lys)
n.2799G>A
n.2634G>A
n.601-2761C>T
n.475+7962C>T
n.600+6074C>T
 gnomAD v4
3g.193662846G>CCA355793053OPA1c.2545G>C (p.Glu849Gln)
c.2380G>C (p.Glu794Gln)
c.2491G>C (p.Glu831Gln)
c.2434G>C (p.Glu812Gln)
c.2319G>C
c.*605G>C (n.*605G>C)
c.2062G>C (p.Glu688Gln)
c.*2461G>C (n.*2461G>C)
c.1967G>C
c.*864G>C (n.*864G>C)
c.2374G>C
c.2395G>C (p.Glu799Gln)
c.*1858G>C (n.*1858G>C)
c.*981G>C (n.*981G>C)
c.1368G>C
c.2272G>C (p.Glu758Gln)
c.2383G>C (p.Glu795Gln)
c.2437G>C (p.Glu813Gln)
c.2326G>C (p.Glu776Gln)
n.582+6074C>G
c.2011G>C (p.Glu671Gln)
c.2008G>C (p.Glu670Gln)
n.2799G>C
n.2634G>C
n.601-2761C>G
n.475+7962C>G
n.600+6074C>G
3g.193662846G>TCA355793054OPA1c.2545G>T (p.Glu849Ter)
c.2380G>T (p.Glu794Ter)
c.2491G>T (p.Glu831Ter)
c.2434G>T (p.Glu812Ter)
c.2319G>T
c.*605G>T (n.*605G>T)
c.2062G>T (p.Glu688Ter)
c.*2461G>T (n.*2461G>T)
c.1967G>T
c.*864G>T (n.*864G>T)
c.2374G>T
c.2395G>T (p.Glu799Ter)
c.*1858G>T (n.*1858G>T)
c.*981G>T (n.*981G>T)
c.1368G>T
c.2272G>T (p.Glu758Ter)
c.2383G>T (p.Glu795Ter)
c.2437G>T (p.Glu813Ter)
c.2326G>T (p.Glu776Ter)
n.582+6074C>A
c.2011G>T (p.Glu671Ter)
c.2008G>T (p.Glu670Ter)
n.2799G>T
n.2634G>T
n.601-2761C>A
n.475+7962C>A
n.600+6074C>A
 gnomAD v4
3g.193662847A>CCA355793055OPA1c.2546A>C (p.Glu849Ala)
c.2381A>C (p.Glu794Ala)
c.2492A>C (p.Glu831Ala)
c.2435A>C (p.Glu812Ala)
c.2320A>C
c.*606A>C (n.*606A>C)
c.2063A>C (p.Glu688Ala)
c.*2462A>C (n.*2462A>C)
c.1968A>C
c.*865A>C (n.*865A>C)
c.2375A>C
c.2396A>C (p.Glu799Ala)
c.*1859A>C (n.*1859A>C)
c.*982A>C (n.*982A>C)
c.1369A>C
c.2273A>C (p.Glu758Ala)
c.2384A>C (p.Glu795Ala)
c.2438A>C (p.Glu813Ala)
c.2327A>C (p.Glu776Ala)
n.582+6073T>G
c.2012A>C (p.Glu671Ala)
c.2009A>C (p.Glu670Ala)
n.2800A>C
n.2635A>C
n.601-2762T>G
n.475+7961T>G
n.600+6073T>G
3g.193662847A>GCA355793056OPA1c.2546A>G (p.Glu849Gly)
c.2381A>G (p.Glu794Gly)
c.2492A>G (p.Glu831Gly)
c.2435A>G (p.Glu812Gly)
c.2320A>G
c.*606A>G (n.*606A>G)
c.2063A>G (p.Glu688Gly)
c.*2462A>G (n.*2462A>G)
c.1968A>G
c.*865A>G (n.*865A>G)
c.2375A>G
c.2396A>G (p.Glu799Gly)
c.*1859A>G (n.*1859A>G)
c.*982A>G (n.*982A>G)
c.1369A>G
c.2273A>G (p.Glu758Gly)
c.2384A>G (p.Glu795Gly)
c.2438A>G (p.Glu813Gly)
c.2327A>G (p.Glu776Gly)
n.582+6073T>C
c.2012A>G (p.Glu671Gly)
c.2009A>G (p.Glu670Gly)
n.2800A>G
n.2635A>G
n.601-2762T>C
n.475+7961T>C
n.600+6073T>C
 gnomAD v4
3g.193662847A>TCA355793057OPA1c.2546A>T (p.Glu849Val)
c.2381A>T (p.Glu794Val)
c.2492A>T (p.Glu831Val)
c.2435A>T (p.Glu812Val)
c.2320A>T
c.*606A>T (n.*606A>T)
c.2063A>T (p.Glu688Val)
c.*2462A>T (n.*2462A>T)
c.1968A>T
c.*865A>T (n.*865A>T)
c.2375A>T
c.2396A>T (p.Glu799Val)
c.*1859A>T (n.*1859A>T)
c.*982A>T (n.*982A>T)
c.1369A>T
c.2273A>T (p.Glu758Val)
c.2384A>T (p.Glu795Val)
c.2438A>T (p.Glu813Val)
c.2327A>T (p.Glu776Val)
n.582+6073T>A
c.2012A>T (p.Glu671Val)
c.2009A>T (p.Glu670Val)
n.2800A>T
n.2635A>T
n.601-2762T>A
n.475+7961T>A
n.600+6073T>A
3g.193662847_193662849delinsAATCA1430270612OPA1c.2546_2548delinsAAT (p.Glu849=)
c.2381_2383delinsAAT (p.Glu794=)
c.2492_2494delinsAAT (p.Glu831=)
c.2435_2437delinsAAT (p.Glu812=)
c.2320_2322delinsAAT
c.*606_*608delinsAAT (n.*606_*608delinsAAT)
c.2063_2065delinsAAT (p.Glu688=)
c.*2462_*2464delinsAAT (n.*2462_*2464delinsAAT)
c.1968_1970delinsAAT
c.*865_*867delinsAAT (n.*865_*867delinsAAT)
c.2375_2377delinsAAT
c.2396_2398delinsAAT (p.Glu799=)
c.*1859_*1861delinsAAT (n.*1859_*1861delinsAAT)
c.*982_*984delinsAAT (n.*982_*984delinsAAT)
c.1369_1371delinsAAT
c.2273_2275delinsAAT (p.Glu758=)
c.2384_2386delinsAAT (p.Glu795=)
c.2438_2440delinsAAT (p.Glu813=)
c.2327_2329delinsAAT (p.Glu776=)
n.582+6071_582+6073delinsATT
c.2012_2014delinsAAT (p.Glu671=)
c.2009_2011delinsAAT (p.Glu670=)
n.2800_2802delinsAAT
n.2635_2637delinsAAT
n.601-2764_601-2762delinsATT
n.475+7959_475+7961delinsATT
n.600+6071_600+6073delinsATT
3g.193662848A>CCA355793058OPA1c.2547A>C (p.Glu849Asp)
c.2382A>C (p.Glu794Asp)
c.2493A>C (p.Glu831Asp)
c.2436A>C (p.Glu812Asp)
c.2321A>C
c.*607A>C (n.*607A>C)
c.2064A>C (p.Glu688Asp)
c.*2463A>C (n.*2463A>C)
c.1969A>C
c.*866A>C (n.*866A>C)
c.2376A>C
c.2397A>C (p.Glu799Asp)
c.*1860A>C (n.*1860A>C)
c.*983A>C (n.*983A>C)
c.1370A>C
c.2274A>C (p.Glu758Asp)
c.2385A>C (p.Glu795Asp)
c.2439A>C (p.Glu813Asp)
c.2328A>C (p.Glu776Asp)
n.582+6072T>G
c.2013A>C (p.Glu671Asp)
c.2010A>C (p.Glu670Asp)
n.2801A>C
n.2636A>C
n.601-2763T>G
n.475+7960T>G
n.600+6072T>G
3g.193662848A>GCA437441565OPA1c.2547A>G (p.Glu849=)
c.2382A>G (p.Glu794=)
c.2493A>G (p.Glu831=)
c.2436A>G (p.Glu812=)
c.2321A>G
c.*607A>G (n.*607A>G)
c.2064A>G (p.Glu688=)
c.*2463A>G (n.*2463A>G)
c.1969A>G
c.*866A>G (n.*866A>G)
c.2376A>G
c.2397A>G (p.Glu799=)
c.*1860A>G (n.*1860A>G)
c.*983A>G (n.*983A>G)
c.1370A>G
c.2274A>G (p.Glu758=)
c.2385A>G (p.Glu795=)
c.2439A>G (p.Glu813=)
c.2328A>G (p.Glu776=)
n.582+6072T>C
c.2013A>G (p.Glu671=)
c.2010A>G (p.Glu670=)
n.2801A>G
n.2636A>G
n.601-2763T>C
n.475+7960T>C
n.600+6072T>C
3g.193662848A>TCA355793059OPA1c.2547A>T (p.Glu849Asp)
c.2382A>T (p.Glu794Asp)
c.2493A>T (p.Glu831Asp)
c.2436A>T (p.Glu812Asp)
c.2321A>T
c.*607A>T (n.*607A>T)
c.2064A>T (p.Glu688Asp)
c.*2463A>T (n.*2463A>T)
c.1969A>T
c.*866A>T (n.*866A>T)
c.2376A>T
c.2397A>T (p.Glu799Asp)
c.*1860A>T (n.*1860A>T)
c.*983A>T (n.*983A>T)
c.1370A>T
c.2274A>T (p.Glu758Asp)
c.2385A>T (p.Glu795Asp)
c.2439A>T (p.Glu813Asp)
c.2328A>T (p.Glu776Asp)
n.582+6072T>A
c.2013A>T (p.Glu671Asp)
c.2010A>T (p.Glu670Asp)
n.2801A>T
n.2636A>T
n.601-2763T>A
n.475+7960T>A
n.600+6072T>A
3g.193662848_193662849delCA913189762OPA1c.2547_2548del (p.Glu849AspfsTer8)
c.2382_2383del (p.Glu794AspfsTer8)
c.2493_2494del (p.Glu831AspfsTer8)
c.2436_2437del (p.Glu812AspfsTer8)
c.2321_2322del
c.*607_*608del (n.*607_*608del)
c.2064_2065del (p.Glu688AspfsTer8)
c.*2463_*2464del (n.*2463_*2464del)
c.1969_1970del
c.*866_*867del (n.*866_*867del)
c.2376_2377del
c.2397_2398del (p.Glu799AspfsTer8)
c.*1860_*1861del (n.*1860_*1861del)
c.*983_*984del (n.*983_*984del)
c.1370_1371del
c.2274_2275del (p.Glu758AspfsTer8)
c.2385_2386del (p.Glu795AspfsTer8)
c.2439_2440del (p.Glu813AspfsTer8)
c.2328_2329del (p.Glu776AspfsTer8)
n.582+6071_582+6072del
c.2013_2014del (p.Glu671AspfsTer8)
c.2010_2011del (p.Glu670AspfsTer8)
n.2801_2802del
n.2636_2637del
n.601-2764_601-2763del
n.475+7959_475+7960del
n.600+6071_600+6072del
 ClinVar dbSNP
3g.193662849T>ACA355793060OPA1c.2548T>A (p.Leu850Met)
c.2383T>A (p.Leu795Met)
c.2494T>A (p.Leu832Met)
c.2437T>A (p.Leu813Met)
c.2322T>A
c.*608T>A (n.*608T>A)
c.2065T>A (p.Leu689Met)
c.*2464T>A (n.*2464T>A)
c.1970T>A
c.*867T>A (n.*867T>A)
c.2377T>A
c.2398T>A (p.Leu800Met)
c.*1861T>A (n.*1861T>A)
c.*984T>A (n.*984T>A)
c.1371T>A
c.2275T>A (p.Leu759Met)
c.2386T>A (p.Leu796Met)
c.2440T>A (p.Leu814Met)
c.2329T>A (p.Leu777Met)
n.582+6071A>T
c.2014T>A (p.Leu672Met)
c.2011T>A (p.Leu671Met)
n.2802T>A
n.2637T>A
n.601-2764A>T
n.475+7959A>T
n.600+6071A>T
3g.193662849T>CCA437441566OPA1c.2548T>C (p.Leu850=)
c.2383T>C (p.Leu795=)
c.2494T>C (p.Leu832=)
c.2437T>C (p.Leu813=)
c.2322T>C
c.*608T>C (n.*608T>C)
c.2065T>C (p.Leu689=)
c.*2464T>C (n.*2464T>C)
c.1970T>C
c.*867T>C (n.*867T>C)
c.2377T>C
c.2398T>C (p.Leu800=)
c.*1861T>C (n.*1861T>C)
c.*984T>C (n.*984T>C)
c.1371T>C
c.2275T>C (p.Leu759=)
c.2386T>C (p.Leu796=)
c.2440T>C (p.Leu814=)
c.2329T>C (p.Leu777=)
n.582+6071A>G
c.2014T>C (p.Leu672=)
c.2011T>C (p.Leu671=)
n.2802T>C
n.2637T>C
n.601-2764A>G
n.475+7959A>G
n.600+6071A>G
 ClinVar
3g.193662849T>GCA355793061OPA1c.2548T>G (p.Leu850Val)
c.2383T>G (p.Leu795Val)
c.2494T>G (p.Leu832Val)
c.2437T>G (p.Leu813Val)
c.2322T>G
c.*608T>G (n.*608T>G)
c.2065T>G (p.Leu689Val)
c.*2464T>G (n.*2464T>G)
c.1970T>G
c.*867T>G (n.*867T>G)
c.2377T>G
c.2398T>G (p.Leu800Val)
c.*1861T>G (n.*1861T>G)
c.*984T>G (n.*984T>G)
c.1371T>G
c.2275T>G (p.Leu759Val)
c.2386T>G (p.Leu796Val)
c.2440T>G (p.Leu814Val)
c.2329T>G (p.Leu777Val)
n.582+6071A>C
c.2014T>G (p.Leu672Val)
c.2011T>G (p.Leu671Val)
n.2802T>G
n.2637T>G
n.601-2764A>C
n.475+7959A>C
n.600+6071A>C
3g.193662850T>ACA355793064OPA1c.2549T>A (p.Leu850Ter)
c.2384T>A (p.Leu795Ter)
c.2495T>A (p.Leu832Ter)
c.2438T>A (p.Leu813Ter)
c.2323T>A
c.*609T>A (n.*609T>A)
c.2066T>A (p.Leu689Ter)
c.*2465T>A (n.*2465T>A)
c.1971T>A
c.*868T>A (n.*868T>A)
c.2378T>A
c.2399T>A (p.Leu800Ter)
c.*1862T>A (n.*1862T>A)
c.*985T>A (n.*985T>A)
c.1372T>A
c.2276T>A (p.Leu759Ter)
c.2387T>A (p.Leu796Ter)
c.2441T>A (p.Leu814Ter)
c.2330T>A (p.Leu777Ter)
n.582+6070A>T
c.2015T>A (p.Leu672Ter)
c.2012T>A (p.Leu671Ter)
n.2803T>A
n.2638T>A
n.601-2765A>T
n.475+7958A>T
n.600+6070A>T
3g.193662850T>CCA355793063OPA1c.2549T>C (p.Leu850Ser)
c.2384T>C (p.Leu795Ser)
c.2495T>C (p.Leu832Ser)
c.2438T>C (p.Leu813Ser)
c.2323T>C
c.*609T>C (n.*609T>C)
c.2066T>C (p.Leu689Ser)
c.*2465T>C (n.*2465T>C)
c.1971T>C
c.*868T>C (n.*868T>C)
c.2378T>C
c.2399T>C (p.Leu800Ser)
c.*1862T>C (n.*1862T>C)
c.*985T>C (n.*985T>C)
c.1372T>C
c.2276T>C (p.Leu759Ser)
c.2387T>C (p.Leu796Ser)
c.2441T>C (p.Leu814Ser)
c.2330T>C (p.Leu777Ser)
n.582+6070A>G
c.2015T>C (p.Leu672Ser)
c.2012T>C (p.Leu671Ser)
n.2803T>C
n.2638T>C
n.601-2765A>G
n.475+7958A>G
n.600+6070A>G
3g.193662850T>GCA355793062OPA1c.2549T>G (p.Leu850Trp)
c.2384T>G (p.Leu795Trp)
c.2495T>G (p.Leu832Trp)
c.2438T>G (p.Leu813Trp)
c.2323T>G
c.*609T>G (n.*609T>G)
c.2066T>G (p.Leu689Trp)
c.*2465T>G (n.*2465T>G)
c.1971T>G
c.*868T>G (n.*868T>G)
c.2378T>G
c.2399T>G (p.Leu800Trp)
c.*1862T>G (n.*1862T>G)
c.*985T>G (n.*985T>G)
c.1372T>G
c.2276T>G (p.Leu759Trp)
c.2387T>G (p.Leu796Trp)
c.2441T>G (p.Leu814Trp)
c.2330T>G (p.Leu777Trp)
n.582+6070A>C
c.2015T>G (p.Leu672Trp)
c.2012T>G (p.Leu671Trp)
n.2803T>G
n.2638T>G
n.601-2765A>C
n.475+7958A>C
n.600+6070A>C
3g.193662851G>ACA437441567OPA1c.2550G>A (p.Leu850=)
c.2385G>A (p.Leu795=)
c.2496G>A (p.Leu832=)
c.2439G>A (p.Leu813=)
c.2324G>A
c.*610G>A (n.*610G>A)
c.2067G>A (p.Leu689=)
c.*2466G>A (n.*2466G>A)
c.1972G>A
c.*869G>A (n.*869G>A)
c.2379G>A
c.2400G>A (p.Leu800=)
c.*1863G>A (n.*1863G>A)
c.*986G>A (n.*986G>A)
c.1373G>A
c.2277G>A (p.Leu759=)
c.2388G>A (p.Leu796=)
c.2442G>A (p.Leu814=)
c.2331G>A (p.Leu777=)
n.582+6069C>T
c.2016G>A (p.Leu672=)
c.2013G>A (p.Leu671=)
n.2804G>A
n.2639G>A
n.601-2766C>T
n.475+7957C>T
n.600+6069C>T
 ClinVar
3g.193662851G>CCA355793065OPA1c.2550G>C (p.Leu850Phe)
c.2385G>C (p.Leu795Phe)
c.2496G>C (p.Leu832Phe)
c.2439G>C (p.Leu813Phe)
c.2324G>C
c.*610G>C (n.*610G>C)
c.2067G>C (p.Leu689Phe)
c.*2466G>C (n.*2466G>C)
c.1972G>C
c.*869G>C (n.*869G>C)
c.2379G>C
c.2400G>C (p.Leu800Phe)
c.*1863G>C (n.*1863G>C)
c.*986G>C (n.*986G>C)
c.1373G>C
c.2277G>C (p.Leu759Phe)
c.2388G>C (p.Leu796Phe)
c.2442G>C (p.Leu814Phe)
c.2331G>C (p.Leu777Phe)
n.582+6069C>G
c.2016G>C (p.Leu672Phe)
c.2013G>C (p.Leu671Phe)
n.2804G>C
n.2639G>C
n.601-2766C>G
n.475+7957C>G
n.600+6069C>G
 gnomAD v4
3g.193662851G>TCA355793066OPA1c.2550G>T (p.Leu850Phe)
c.2385G>T (p.Leu795Phe)
c.2496G>T (p.Leu832Phe)
c.2439G>T (p.Leu813Phe)
c.2324G>T
c.*610G>T (n.*610G>T)
c.2067G>T (p.Leu689Phe)
c.*2466G>T (n.*2466G>T)
c.1972G>T
c.*869G>T (n.*869G>T)
c.2379G>T
c.2400G>T (p.Leu800Phe)
c.*1863G>T (n.*1863G>T)
c.*986G>T (n.*986G>T)
c.1373G>T
c.2277G>T (p.Leu759Phe)
c.2388G>T (p.Leu796Phe)
c.2442G>T (p.Leu814Phe)
c.2331G>T (p.Leu777Phe)
n.582+6069C>A
c.2016G>T (p.Leu672Phe)
c.2013G>T (p.Leu671Phe)
n.2804G>T
n.2639G>T
n.601-2766C>A
n.475+7957C>A
n.600+6069C>A
3g.193662852G>ACA355793067OPA1c.2551G>A (p.Glu851Lys)
c.2386G>A (p.Glu796Lys)
c.2497G>A (p.Glu833Lys)
c.2440G>A (p.Glu814Lys)
c.2325G>A
c.*611G>A (n.*611G>A)
c.2068G>A (p.Glu690Lys)
c.*2467G>A (n.*2467G>A)
c.1973G>A
c.*870G>A (n.*870G>A)
c.2380G>A
c.2401G>A (p.Glu801Lys)
c.*1864G>A (n.*1864G>A)
c.*987G>A (n.*987G>A)
c.1374G>A
c.2278G>A (p.Glu760Lys)
c.2389G>A (p.Glu797Lys)
c.2443G>A (p.Glu815Lys)
c.2332G>A (p.Glu778Lys)
n.582+6068C>T
c.2017G>A (p.Glu673Lys)
c.2014G>A (p.Glu672Lys)
n.2805G>A
n.2640G>A
n.601-2767C>T
n.475+7956C>T
n.600+6068C>T
3g.193662852G>CCA355793068OPA1c.2551G>C (p.Glu851Gln)
c.2386G>C (p.Glu796Gln)
c.2497G>C (p.Glu833Gln)
c.2440G>C (p.Glu814Gln)
c.2325G>C
c.*611G>C (n.*611G>C)
c.2068G>C (p.Glu690Gln)
c.*2467G>C (n.*2467G>C)
c.1973G>C
c.*870G>C (n.*870G>C)
c.2380G>C
c.2401G>C (p.Glu801Gln)
c.*1864G>C (n.*1864G>C)
c.*987G>C (n.*987G>C)
c.1374G>C
c.2278G>C (p.Glu760Gln)
c.2389G>C (p.Glu797Gln)
c.2443G>C (p.Glu815Gln)
c.2332G>C (p.Glu778Gln)
n.582+6068C>G
c.2017G>C (p.Glu673Gln)
c.2014G>C (p.Glu672Gln)
n.2805G>C
n.2640G>C
n.601-2767C>G
n.475+7956C>G
n.600+6068C>G
 dbSNP
3g.193662852G=CA1430270619OPA1c.2551G= (p.Glu851=)
c.2386G= (p.Glu796=)
c.2497G= (p.Glu833=)
c.2440G= (p.Glu814=)
c.2325G=
c.*611G= (n.*611G=)
c.2068G= (p.Glu690=)
c.*2467G= (n.*2467G=)
c.1973G=
c.*870G= (n.*870G=)
c.2380G=
c.2401G= (p.Glu801=)
c.*1864G= (n.*1864G=)
c.*987G= (n.*987G=)
c.1374G=
c.2278G= (p.Glu760=)
c.2389G= (p.Glu797=)
c.2443G= (p.Glu815=)
c.2332G= (p.Glu778=)
n.582+6068C=
c.2017G= (p.Glu673=)
c.2014G= (p.Glu672=)
n.2805G=
n.2640G=
n.601-2767C=
n.475+7956C=
n.600+6068C=
3g.193662852G>TCA355793069OPA1c.2551G>T (p.Glu851Ter)
c.2386G>T (p.Glu796Ter)
c.2497G>T (p.Glu833Ter)
c.2440G>T (p.Glu814Ter)
c.2325G>T
c.*611G>T (n.*611G>T)
c.2068G>T (p.Glu690Ter)
c.*2467G>T (n.*2467G>T)
c.1973G>T
c.*870G>T (n.*870G>T)
c.2380G>T
c.2401G>T (p.Glu801Ter)
c.*1864G>T (n.*1864G>T)
c.*987G>T (n.*987G>T)
c.1374G>T
c.2278G>T (p.Glu760Ter)
c.2389G>T (p.Glu797Ter)
c.2443G>T (p.Glu815Ter)
c.2332G>T (p.Glu778Ter)
n.582+6068C>A
c.2017G>T (p.Glu673Ter)
c.2014G>T (p.Glu672Ter)
n.2805G>T
n.2640G>T
n.601-2767C>A
n.475+7956C>A
n.600+6068C>A
 ClinVar dbSNP
3g.193662852_193662855delinsGAGACA1430270618OPA1c.2551_2554delinsGAGA (p.Glu851=)
c.2386_2389delinsGAGA (p.Glu796=)
c.2497_2500delinsGAGA (p.Glu833=)
c.2440_2443delinsGAGA (p.Glu814=)
c.2325_2328delinsGAGA
c.*611_*614delinsGAGA (n.*611_*614delinsGAGA)
c.2068_2071delinsGAGA (p.Glu690=)
c.*2467_*2470delinsGAGA (n.*2467_*2470delinsGAGA)
c.1973_1976delinsGAGA
c.*870_*873delinsGAGA (n.*870_*873delinsGAGA)
c.2380_2383delinsGAGA
c.2401_2404delinsGAGA (p.Glu801=)
c.*1864_*1867delinsGAGA (n.*1864_*1867delinsGAGA)
c.*987_*990delinsGAGA (n.*987_*990delinsGAGA)
c.1374_1377delinsGAGA
c.2278_2281delinsGAGA (p.Glu760=)
c.2389_2392delinsGAGA (p.Glu797=)
c.2443_2446delinsGAGA (p.Glu815=)
c.2332_2335delinsGAGA (p.Glu778=)
n.582+6065_582+6068delinsTCTC
c.2017_2020delinsGAGA (p.Glu673=)
c.2014_2017delinsGAGA (p.Glu672=)
n.2805_2808delinsGAGA
n.2640_2643delinsGAGA
n.601-2770_601-2767delinsTCTC
n.475+7953_475+7956delinsTCTC
n.600+6065_600+6068delinsTCTC
3g.193662853A=CA1430270625OPA1c.2552A= (p.Glu851=)
c.2387A= (p.Glu796=)
c.2498A= (p.Glu833=)
c.2441A= (p.Glu814=)
c.2326A=
c.*612A= (n.*612A=)
c.2069A= (p.Glu690=)
c.*2468A= (n.*2468A=)
c.1974A=
c.*871A= (n.*871A=)
c.2381A=
c.2402A= (p.Glu801=)
c.*1865A= (n.*1865A=)
c.*988A= (n.*988A=)
c.1375A=
c.2279A= (p.Glu760=)
c.2390A= (p.Glu797=)
c.2444A= (p.Glu815=)
c.2333A= (p.Glu778=)
n.582+6067T=
c.2018A= (p.Glu673=)
c.2015A= (p.Glu672=)
n.2806A=
n.2641A=
n.601-2768T=
n.475+7955T=
n.600+6067T=
3g.193662853A>CCA355793070OPA1c.2552A>C (p.Glu851Ala)
c.2387A>C (p.Glu796Ala)
c.2498A>C (p.Glu833Ala)
c.2441A>C (p.Glu814Ala)
c.2326A>C
c.*612A>C (n.*612A>C)
c.2069A>C (p.Glu690Ala)
c.*2468A>C (n.*2468A>C)
c.1974A>C
c.*871A>C (n.*871A>C)
c.2381A>C
c.2402A>C (p.Glu801Ala)
c.*1865A>C (n.*1865A>C)
c.*988A>C (n.*988A>C)
c.1375A>C
c.2279A>C (p.Glu760Ala)
c.2390A>C (p.Glu797Ala)
c.2444A>C (p.Glu815Ala)
c.2333A>C (p.Glu778Ala)
n.582+6067T>G
c.2018A>C (p.Glu673Ala)
c.2015A>C (p.Glu672Ala)
n.2806A>C
n.2641A>C
n.601-2768T>G
n.475+7955T>G
n.600+6067T>G
3g.193662853A>GCA355793071OPA1c.2552A>G (p.Glu851Gly)
c.2387A>G (p.Glu796Gly)
c.2498A>G (p.Glu833Gly)
c.2441A>G (p.Glu814Gly)
c.2326A>G
c.*612A>G (n.*612A>G)
c.2069A>G (p.Glu690Gly)
c.*2468A>G (n.*2468A>G)
c.1974A>G
c.*871A>G (n.*871A>G)
c.2381A>G
c.2402A>G (p.Glu801Gly)
c.*1865A>G (n.*1865A>G)
c.*988A>G (n.*988A>G)
c.1375A>G
c.2279A>G (p.Glu760Gly)
c.2390A>G (p.Glu797Gly)
c.2444A>G (p.Glu815Gly)
c.2333A>G (p.Glu778Gly)
n.582+6067T>C
c.2018A>G (p.Glu673Gly)
c.2015A>G (p.Glu672Gly)
n.2806A>G
n.2641A>G
n.601-2768T>C
n.475+7955T>C
n.600+6067T>C
 dbSNP gnomAD v4
3g.193662853A>TCA355793072OPA1c.2552A>T (p.Glu851Val)
c.2387A>T (p.Glu796Val)
c.2498A>T (p.Glu833Val)
c.2441A>T (p.Glu814Val)
c.2326A>T
c.*612A>T (n.*612A>T)
c.2069A>T (p.Glu690Val)
c.*2468A>T (n.*2468A>T)
c.1974A>T
c.*871A>T (n.*871A>T)
c.2381A>T
c.2402A>T (p.Glu801Val)
c.*1865A>T (n.*1865A>T)
c.*988A>T (n.*988A>T)
c.1375A>T
c.2279A>T (p.Glu760Val)
c.2390A>T (p.Glu797Val)
c.2444A>T (p.Glu815Val)
c.2333A>T (p.Glu778Val)
n.582+6067T>A
c.2018A>T (p.Glu673Val)
c.2015A>T (p.Glu672Val)
n.2806A>T
n.2641A>T
n.601-2768T>A
n.475+7955T>A
n.600+6067T>A
3g.193662856_193662858delCA904583964OPA1c.2555_2557del (p.Lys852del)
c.2390_2392del (p.Lys797del)
c.2501_2503del (p.Lys834del)
c.2444_2446del (p.Lys815del)
c.2329_2331del
c.*615_*617del (n.*615_*617del)
c.2072_2074del (p.Lys691del)
c.*2471_*2473del (n.*2471_*2473del)
c.1977_1979del
c.*874_*876del (n.*874_*876del)
c.2384_2386del
c.2405_2407del (p.Lys802del)
c.*1868_*1870del (n.*1868_*1870del)
c.*991_*993del (n.*991_*993del)
c.1378_1380del
c.2282_2284del (p.Lys761del)
c.2393_2395del (p.Lys798del)
c.2447_2449del (p.Lys816del)
c.2336_2338del (p.Lys779del)
n.582+6065_582+6067del
c.2021_2023del (p.Lys674del)
c.2018_2020del (p.Lys673del)
n.2809_2811del
n.2644_2646del
n.601-2770_601-2768del
n.475+7953_475+7955del
n.600+6065_600+6067del
 ClinVar dbSNP
3g.193662854G>ACA437441568OPA1c.2553G>A (p.Glu851=)
c.2388G>A (p.Glu796=)
c.2499G>A (p.Glu833=)
c.2442G>A (p.Glu814=)
c.2327G>A
c.*613G>A (n.*613G>A)
c.2070G>A (p.Glu690=)
c.*2469G>A (n.*2469G>A)
c.1975G>A
c.*872G>A (n.*872G>A)
c.2382G>A
c.2403G>A (p.Glu801=)
c.*1866G>A (n.*1866G>A)
c.*989G>A (n.*989G>A)
c.1376G>A
c.2280G>A (p.Glu760=)
c.2391G>A (p.Glu797=)
c.2445G>A (p.Glu815=)
c.2334G>A (p.Glu778=)
n.582+6066C>T
c.2019G>A (p.Glu673=)
c.2016G>A (p.Glu672=)
n.2807G>A
n.2642G>A
n.601-2769C>T
n.475+7954C>T
n.600+6066C>T
3g.193662854G>CCA355793073OPA1c.2553G>C (p.Glu851Asp)
c.2388G>C (p.Glu796Asp)
c.2499G>C (p.Glu833Asp)
c.2442G>C (p.Glu814Asp)
c.2327G>C
c.*613G>C (n.*613G>C)
c.2070G>C (p.Glu690Asp)
c.*2469G>C (n.*2469G>C)
c.1975G>C
c.*872G>C (n.*872G>C)
c.2382G>C
c.2403G>C (p.Glu801Asp)
c.*1866G>C (n.*1866G>C)
c.*989G>C (n.*989G>C)
c.1376G>C
c.2280G>C (p.Glu760Asp)
c.2391G>C (p.Glu797Asp)
c.2445G>C (p.Glu815Asp)
c.2334G>C (p.Glu778Asp)
n.582+6066C>G
c.2019G>C (p.Glu673Asp)
c.2016G>C (p.Glu672Asp)
n.2807G>C
n.2642G>C
n.601-2769C>G
n.475+7954C>G
n.600+6066C>G
3g.193662854G>TCA355793074OPA1c.2553G>T (p.Glu851Asp)
c.2388G>T (p.Glu796Asp)
c.2499G>T (p.Glu833Asp)
c.2442G>T (p.Glu814Asp)
c.2327G>T
c.*613G>T (n.*613G>T)
c.2070G>T (p.Glu690Asp)
c.*2469G>T (n.*2469G>T)
c.1975G>T
c.*872G>T (n.*872G>T)
c.2382G>T
c.2403G>T (p.Glu801Asp)
c.*1866G>T (n.*1866G>T)
c.*989G>T (n.*989G>T)
c.1376G>T
c.2280G>T (p.Glu760Asp)
c.2391G>T (p.Glu797Asp)
c.2445G>T (p.Glu815Asp)
c.2334G>T (p.Glu778Asp)
n.582+6066C>A
c.2019G>T (p.Glu673Asp)
c.2016G>T (p.Glu672Asp)
n.2807G>T
n.2642G>T
n.601-2769C>A
n.475+7954C>A
n.600+6066C>A
3g.193662855A>CCA355793075OPA1c.2554A>C (p.Lys852Gln)
c.2389A>C (p.Lys797Gln)
c.2500A>C (p.Lys834Gln)
c.2443A>C (p.Lys815Gln)
c.2328A>C
c.*614A>C (n.*614A>C)
c.2071A>C (p.Lys691Gln)
c.*2470A>C (n.*2470A>C)
c.1976A>C
c.*873A>C (n.*873A>C)
c.2383A>C
c.2404A>C (p.Lys802Gln)
c.*1867A>C (n.*1867A>C)
c.*990A>C (n.*990A>C)
c.1377A>C
c.2281A>C (p.Lys761Gln)
c.2392A>C (p.Lys798Gln)
c.2446A>C (p.Lys816Gln)
c.2335A>C (p.Lys779Gln)
n.582+6065T>G
c.2020A>C (p.Lys674Gln)
c.2017A>C (p.Lys673Gln)
n.2808A>C
n.2643A>C
n.601-2770T>G
n.475+7953T>G
n.600+6065T>G
3g.193662855A>GCA355793076OPA1c.2554A>G (p.Lys852Glu)
c.2389A>G (p.Lys797Glu)
c.2500A>G (p.Lys834Glu)
c.2443A>G (p.Lys815Glu)
c.2328A>G
c.*614A>G (n.*614A>G)
c.2071A>G (p.Lys691Glu)
c.*2470A>G (n.*2470A>G)
c.1976A>G
c.*873A>G (n.*873A>G)
c.2383A>G
c.2404A>G (p.Lys802Glu)
c.*1867A>G (n.*1867A>G)
c.*990A>G (n.*990A>G)
c.1377A>G
c.2281A>G (p.Lys761Glu)
c.2392A>G (p.Lys798Glu)
c.2446A>G (p.Lys816Glu)
c.2335A>G (p.Lys779Glu)
n.582+6065T>C
c.2020A>G (p.Lys674Glu)
c.2017A>G (p.Lys673Glu)
n.2808A>G
n.2643A>G
n.601-2770T>C
n.475+7953T>C
n.600+6065T>C
3g.193662855A>TCA355793077OPA1c.2554A>T (p.Lys852Ter)
c.2389A>T (p.Lys797Ter)
c.2500A>T (p.Lys834Ter)
c.2443A>T (p.Lys815Ter)
c.2328A>T
c.*614A>T (n.*614A>T)
c.2071A>T (p.Lys691Ter)
c.*2470A>T (n.*2470A>T)
c.1976A>T
c.*873A>T (n.*873A>T)
c.2383A>T
c.2404A>T (p.Lys802Ter)
c.*1867A>T (n.*1867A>T)
c.*990A>T (n.*990A>T)
c.1377A>T
c.2281A>T (p.Lys761Ter)
c.2392A>T (p.Lys798Ter)
c.2446A>T (p.Lys816Ter)
c.2335A>T (p.Lys779Ter)
n.582+6065T>A
c.2020A>T (p.Lys674Ter)
c.2017A>T (p.Lys673Ter)
n.2808A>T
n.2643A>T
n.601-2770T>A
n.475+7953T>A
n.600+6065T>A
3g.193662856A>CCA355793079OPA1c.2555A>C (p.Lys852Thr)
c.2390A>C (p.Lys797Thr)
c.2501A>C (p.Lys834Thr)
c.2444A>C (p.Lys815Thr)
c.2329A>C
c.*615A>C (n.*615A>C)
c.2072A>C (p.Lys691Thr)
c.*2471A>C (n.*2471A>C)
c.1977A>C
c.*874A>C (n.*874A>C)
c.2384A>C
c.2405A>C (p.Lys802Thr)
c.*1868A>C (n.*1868A>C)
c.*991A>C (n.*991A>C)
c.1378A>C
c.2282A>C (p.Lys761Thr)
c.2393A>C (p.Lys798Thr)
c.2447A>C (p.Lys816Thr)
c.2336A>C (p.Lys779Thr)
n.582+6064T>G
c.2021A>C (p.Lys674Thr)
c.2018A>C (p.Lys673Thr)
n.2809A>C
n.2644A>C
n.601-2771T>G
n.475+7952T>G
n.600+6064T>G
3g.193662856A>GCA355793080OPA1c.2555A>G (p.Lys852Arg)
c.2390A>G (p.Lys797Arg)
c.2501A>G (p.Lys834Arg)
c.2444A>G (p.Lys815Arg)
c.2329A>G
c.*615A>G (n.*615A>G)
c.2072A>G (p.Lys691Arg)
c.*2471A>G (n.*2471A>G)
c.1977A>G
c.*874A>G (n.*874A>G)
c.2384A>G
c.2405A>G (p.Lys802Arg)
c.*1868A>G (n.*1868A>G)
c.*991A>G (n.*991A>G)
c.1378A>G
c.2282A>G (p.Lys761Arg)
c.2393A>G (p.Lys798Arg)
c.2447A>G (p.Lys816Arg)
c.2336A>G (p.Lys779Arg)
n.582+6064T>C
c.2021A>G (p.Lys674Arg)
c.2018A>G (p.Lys673Arg)
n.2809A>G
n.2644A>G
n.601-2771T>C
n.475+7952T>C
n.600+6064T>C
3g.193662856A>TCA355793078OPA1c.2555A>T (p.Lys852Met)
c.2390A>T (p.Lys797Met)
c.2501A>T (p.Lys834Met)
c.2444A>T (p.Lys815Met)
c.2329A>T
c.*615A>T (n.*615A>T)
c.2072A>T (p.Lys691Met)
c.*2471A>T (n.*2471A>T)
c.1977A>T
c.*874A>T (n.*874A>T)
c.2384A>T
c.2405A>T (p.Lys802Met)
c.*1868A>T (n.*1868A>T)
c.*991A>T (n.*991A>T)
c.1378A>T
c.2282A>T (p.Lys761Met)
c.2393A>T (p.Lys798Met)
c.2447A>T (p.Lys816Met)
c.2336A>T (p.Lys779Met)
n.582+6064T>A
c.2021A>T (p.Lys674Met)
c.2018A>T (p.Lys673Met)
n.2809A>T
n.2644A>T
n.601-2771T>A
n.475+7952T>A
n.600+6064T>A
3g.193662857G>ACA437441570OPA1c.2556G>A (p.Lys852=)
c.2391G>A (p.Lys797=)
c.2502G>A (p.Lys834=)
c.2445G>A (p.Lys815=)
c.2330G>A
c.*616G>A (n.*616G>A)
c.2073G>A (p.Lys691=)
c.*2472G>A (n.*2472G>A)
c.1978G>A
c.*875G>A (n.*875G>A)
c.2385G>A
c.2406G>A (p.Lys802=)
c.*1869G>A (n.*1869G>A)
c.*992G>A (n.*992G>A)
c.1379G>A
c.2283G>A (p.Lys761=)
c.2394G>A (p.Lys798=)
c.2448G>A (p.Lys816=)
c.2337G>A (p.Lys779=)
n.582+6063C>T
c.2022G>A (p.Lys674=)
c.2019G>A (p.Lys673=)
n.2810G>A
n.2645G>A
n.601-2772C>T
n.475+7951C>T
n.600+6063C>T
 COSMIC
3g.193662857G>CCA355793081OPA1c.2556G>C (p.Lys852Asn)
c.2391G>C (p.Lys797Asn)
c.2502G>C (p.Lys834Asn)
c.2445G>C (p.Lys815Asn)
c.2330G>C
c.*616G>C (n.*616G>C)
c.2073G>C (p.Lys691Asn)
c.*2472G>C (n.*2472G>C)
c.1978G>C
c.*875G>C (n.*875G>C)
c.2385G>C
c.2406G>C (p.Lys802Asn)
c.*1869G>C (n.*1869G>C)
c.*992G>C (n.*992G>C)
c.1379G>C
c.2283G>C (p.Lys761Asn)
c.2394G>C (p.Lys798Asn)
c.2448G>C (p.Lys816Asn)
c.2337G>C (p.Lys779Asn)
n.582+6063C>G
c.2022G>C (p.Lys674Asn)
c.2019G>C (p.Lys673Asn)
n.2810G>C
n.2645G>C
n.601-2772C>G
n.475+7951C>G
n.600+6063C>G
3g.193662857G=CA1430270628OPA1c.2556G= (p.Lys852=)
c.2391G= (p.Lys797=)
c.2502G= (p.Lys834=)
c.2445G= (p.Lys815=)
c.2330G=
c.*616G= (n.*616G=)
c.2073G= (p.Lys691=)
c.*2472G= (n.*2472G=)
c.1978G=
c.*875G= (n.*875G=)
c.2385G=
c.2406G= (p.Lys802=)
c.*1869G= (n.*1869G=)
c.*992G= (n.*992G=)
c.1379G=
c.2283G= (p.Lys761=)
c.2394G= (p.Lys798=)
c.2448G= (p.Lys816=)
c.2337G= (p.Lys779=)
n.582+6063C=
c.2022G= (p.Lys674=)
c.2019G= (p.Lys673=)
n.2810G=
n.2645G=
n.601-2772C=
n.475+7951C=
n.600+6063C=
3g.193662857G>TCA355793082OPA1c.2556G>T (p.Lys852Asn)
c.2391G>T (p.Lys797Asn)
c.2502G>T (p.Lys834Asn)
c.2445G>T (p.Lys815Asn)
c.2330G>T
c.*616G>T (n.*616G>T)
c.2073G>T (p.Lys691Asn)
c.*2472G>T (n.*2472G>T)
c.1978G>T
c.*875G>T (n.*875G>T)
c.2385G>T
c.2406G>T (p.Lys802Asn)
c.*1869G>T (n.*1869G>T)
c.*992G>T (n.*992G>T)
c.1379G>T
c.2283G>T (p.Lys761Asn)
c.2394G>T (p.Lys798Asn)
c.2448G>T (p.Lys816Asn)
c.2337G>T (p.Lys779Asn)
n.582+6063C>A
c.2022G>T (p.Lys674Asn)
c.2019G>T (p.Lys673Asn)
n.2810G>T
n.2645G>T
n.601-2772C>A
n.475+7951C>A
n.600+6063C>A
 dbSNP
3g.193662858A=CA1430270630OPA1c.2557A= (p.Met853=)
c.2392A= (p.Met798=)
c.2503A= (p.Met835=)
c.2446A= (p.Met816=)
c.2331A=
c.*617A= (n.*617A=)
c.2074A= (p.Met692=)
c.*2473A= (n.*2473A=)
c.1979A=
c.*876A= (n.*876A=)
c.2386A=
c.2407A= (p.Met803=)
c.*1870A= (n.*1870A=)
c.*993A= (n.*993A=)
c.1380A=
c.2284A= (p.Met762=)
c.2395A= (p.Met799=)
c.2449A= (p.Met817=)
c.2338A= (p.Met780=)
n.582+6062T=
c.2023A= (p.Met675=)
c.2020A= (p.Met674=)
n.2811A=
n.2646A=
n.601-2773T=
n.475+7950T=
n.600+6062T=
3g.193662858A>CCA355793083OPA1c.2557A>C (p.Met853Leu)
c.2392A>C (p.Met798Leu)
c.2503A>C (p.Met835Leu)
c.2446A>C (p.Met816Leu)
c.2331A>C
c.*617A>C (n.*617A>C)
c.2074A>C (p.Met692Leu)
c.*2473A>C (n.*2473A>C)
c.1979A>C
c.*876A>C (n.*876A>C)
c.2386A>C
c.2407A>C (p.Met803Leu)
c.*1870A>C (n.*1870A>C)
c.*993A>C (n.*993A>C)
c.1380A>C
c.2284A>C (p.Met762Leu)
c.2395A>C (p.Met799Leu)
c.2449A>C (p.Met817Leu)
c.2338A>C (p.Met780Leu)
n.582+6062T>G
c.2023A>C (p.Met675Leu)
c.2020A>C (p.Met674Leu)
n.2811A>C
n.2646A>C
n.601-2773T>G
n.475+7950T>G
n.600+6062T>G
 gnomAD v4
3g.193662858A>GCA2759698OPA1c.2557A>G (p.Met853Val)
c.2392A>G (p.Met798Val)
c.2503A>G (p.Met835Val)
c.2446A>G (p.Met816Val)
c.2331A>G
c.*617A>G (n.*617A>G)
c.2074A>G (p.Met692Val)
c.*2473A>G (n.*2473A>G)
c.1979A>G
c.*876A>G (n.*876A>G)
c.2386A>G
c.2407A>G (p.Met803Val)
c.*1870A>G (n.*1870A>G)
c.*993A>G (n.*993A>G)
c.1380A>G
c.2284A>G (p.Met762Val)
c.2395A>G (p.Met799Val)
c.2449A>G (p.Met817Val)
c.2338A>G (p.Met780Val)
n.582+6062T>C
c.2023A>G (p.Met675Val)
c.2020A>G (p.Met674Val)
n.2811A>G
n.2646A>G
n.601-2773T>C
n.475+7950T>C
n.600+6062T>C
 dbSNP ExAC gnomAD v4
3g.193662858A>TCA355793084OPA1c.2557A>T (p.Met853Leu)
c.2392A>T (p.Met798Leu)
c.2503A>T (p.Met835Leu)
c.2446A>T (p.Met816Leu)
c.2331A>T
c.*617A>T (n.*617A>T)
c.2074A>T (p.Met692Leu)
c.*2473A>T (n.*2473A>T)
c.1979A>T
c.*876A>T (n.*876A>T)
c.2386A>T
c.2407A>T (p.Met803Leu)
c.*1870A>T (n.*1870A>T)
c.*993A>T (n.*993A>T)
c.1380A>T
c.2284A>T (p.Met762Leu)
c.2395A>T (p.Met799Leu)
c.2449A>T (p.Met817Leu)
c.2338A>T (p.Met780Leu)
n.582+6062T>A
c.2023A>T (p.Met675Leu)
c.2020A>T (p.Met674Leu)
n.2811A>T
n.2646A>T
n.601-2773T>A
n.475+7950T>A
n.600+6062T>A
3g.193662859T>ACA355793085OPA1c.2558T>A (p.Met853Lys)
c.2393T>A (p.Met798Lys)
c.2504T>A (p.Met835Lys)
c.2447T>A (p.Met816Lys)
c.2332T>A
c.*618T>A (n.*618T>A)
c.2075T>A (p.Met692Lys)
c.*2474T>A (n.*2474T>A)
c.1980T>A
c.*877T>A (n.*877T>A)
c.2387T>A
c.2408T>A (p.Met803Lys)
c.*1871T>A (n.*1871T>A)
c.*994T>A (n.*994T>A)
c.1381T>A
c.2285T>A (p.Met762Lys)
c.2396T>A (p.Met799Lys)
c.2450T>A (p.Met817Lys)
c.2339T>A (p.Met780Lys)
n.582+6061A>T
c.2024T>A (p.Met675Lys)
c.2021T>A (p.Met674Lys)
n.2812T>A
n.2647T>A
n.601-2774A>T
n.475+7949A>T
n.600+6061A>T
3g.193662859T>CCA355793086OPA1c.2558T>C (p.Met853Thr)
c.2393T>C (p.Met798Thr)
c.2504T>C (p.Met835Thr)
c.2447T>C (p.Met816Thr)
c.2332T>C
c.*618T>C (n.*618T>C)
c.2075T>C (p.Met692Thr)
c.*2474T>C (n.*2474T>C)
c.1980T>C
c.*877T>C (n.*877T>C)
c.2387T>C
c.2408T>C (p.Met803Thr)
c.*1871T>C (n.*1871T>C)
c.*994T>C (n.*994T>C)
c.1381T>C
c.2285T>C (p.Met762Thr)
c.2396T>C (p.Met799Thr)
c.2450T>C (p.Met817Thr)
c.2339T>C (p.Met780Thr)
n.582+6061A>G
c.2024T>C (p.Met675Thr)
c.2021T>C (p.Met674Thr)
n.2812T>C
n.2647T>C
n.601-2774A>G
n.475+7949A>G
n.600+6061A>G
3g.193662859T>GCA355793087OPA1c.2558T>G (p.Met853Arg)
c.2393T>G (p.Met798Arg)
c.2504T>G (p.Met835Arg)
c.2447T>G (p.Met816Arg)
c.2332T>G
c.*618T>G (n.*618T>G)
c.2075T>G (p.Met692Arg)
c.*2474T>G (n.*2474T>G)
c.1980T>G
c.*877T>G (n.*877T>G)
c.2387T>G
c.2408T>G (p.Met803Arg)
c.*1871T>G (n.*1871T>G)
c.*994T>G (n.*994T>G)
c.1381T>G
c.2285T>G (p.Met762Arg)
c.2396T>G (p.Met799Arg)
c.2450T>G (p.Met817Arg)
c.2339T>G (p.Met780Arg)
n.582+6061A>C
c.2024T>G (p.Met675Arg)
c.2021T>G (p.Met674Arg)
n.2812T>G
n.2647T>G
n.601-2774A>C
n.475+7949A>C
n.600+6061A>C
3g.193662860G>ACA355793088OPA1c.2559G>A (p.Met853Ile)
c.2394G>A (p.Met798Ile)
c.2505G>A (p.Met835Ile)
c.2448G>A (p.Met816Ile)
c.2333G>A
c.*619G>A (n.*619G>A)
c.2076G>A (p.Met692Ile)
c.*2475G>A (n.*2475G>A)
c.1981G>A
c.*878G>A (n.*878G>A)
c.2388G>A
c.2409G>A (p.Met803Ile)
c.*1872G>A (n.*1872G>A)
c.*995G>A (n.*995G>A)
c.1382G>A
c.2286G>A (p.Met762Ile)
c.2397G>A (p.Met799Ile)
c.2451G>A (p.Met817Ile)
c.2340G>A (p.Met780Ile)
n.582+6060C>T
c.2025G>A (p.Met675Ile)
c.2022G>A (p.Met674Ile)
n.2813G>A
n.2648G>A
n.601-2775C>T
n.475+7948C>T
n.600+6060C>T
 gnomAD v4
3g.193662860G>CCA355793089OPA1c.2559G>C (p.Met853Ile)
c.2394G>C (p.Met798Ile)
c.2505G>C (p.Met835Ile)
c.2448G>C (p.Met816Ile)
c.2333G>C
c.*619G>C (n.*619G>C)
c.2076G>C (p.Met692Ile)
c.*2475G>C (n.*2475G>C)
c.1981G>C
c.*878G>C (n.*878G>C)
c.2388G>C
c.2409G>C (p.Met803Ile)
c.*1872G>C (n.*1872G>C)
c.*995G>C (n.*995G>C)
c.1382G>C
c.2286G>C (p.Met762Ile)
c.2397G>C (p.Met799Ile)
c.2451G>C (p.Met817Ile)
c.2340G>C (p.Met780Ile)
n.582+6060C>G
c.2025G>C (p.Met675Ile)
c.2022G>C (p.Met674Ile)
n.2813G>C
n.2648G>C
n.601-2775C>G
n.475+7948C>G
n.600+6060C>G
3g.193662860G>TCA355793090OPA1c.2559G>T (p.Met853Ile)
c.2394G>T (p.Met798Ile)
c.2505G>T (p.Met835Ile)
c.2448G>T (p.Met816Ile)
c.2333G>T
c.*619G>T (n.*619G>T)
c.2076G>T (p.Met692Ile)
c.*2475G>T (n.*2475G>T)
c.1981G>T
c.*878G>T (n.*878G>T)
c.2388G>T
c.2409G>T (p.Met803Ile)
c.*1872G>T (n.*1872G>T)
c.*995G>T (n.*995G>T)
c.1382G>T
c.2286G>T (p.Met762Ile)
c.2397G>T (p.Met799Ile)
c.2451G>T (p.Met817Ile)
c.2340G>T (p.Met780Ile)
n.582+6060C>A
c.2025G>T (p.Met675Ile)
c.2022G>T (p.Met674Ile)
n.2813G>T
n.2648G>T
n.601-2775C>A
n.475+7948C>A
n.600+6060C>A
3g.193662861T>ACA355793091OPA1c.2560T>A (p.Leu854Met)
c.2395T>A (p.Leu799Met)
c.2506T>A (p.Leu836Met)
c.2449T>A (p.Leu817Met)
c.2334T>A
c.*620T>A (n.*620T>A)
c.2077T>A (p.Leu693Met)
c.*2476T>A (n.*2476T>A)
c.1982T>A
c.*879T>A (n.*879T>A)
c.2389T>A
c.2410T>A (p.Leu804Met)
c.*1873T>A (n.*1873T>A)
c.*996T>A (n.*996T>A)
c.1383T>A
c.2287T>A (p.Leu763Met)
c.2398T>A (p.Leu800Met)
c.2452T>A (p.Leu818Met)
c.2341T>A (p.Leu781Met)
n.582+6059A>T
c.2026T>A (p.Leu676Met)
c.2023T>A (p.Leu675Met)
n.2814T>A
n.2649T>A
n.601-2776A>T
n.475+7947A>T
n.600+6059A>T
3g.193662861T>CCA437441571OPA1c.2560T>C (p.Leu854=)
c.2395T>C (p.Leu799=)
c.2506T>C (p.Leu836=)
c.2449T>C (p.Leu817=)
c.2334T>C
c.*620T>C (n.*620T>C)
c.2077T>C (p.Leu693=)
c.*2476T>C (n.*2476T>C)
c.1982T>C
c.*879T>C (n.*879T>C)
c.2389T>C
c.2410T>C (p.Leu804=)
c.*1873T>C (n.*1873T>C)
c.*996T>C (n.*996T>C)
c.1383T>C
c.2287T>C (p.Leu763=)
c.2398T>C (p.Leu800=)
c.2452T>C (p.Leu818=)
c.2341T>C (p.Leu781=)
n.582+6059A>G
c.2026T>C (p.Leu676=)
c.2023T>C (p.Leu675=)
n.2814T>C
n.2649T>C
n.601-2776A>G
n.475+7947A>G
n.600+6059A>G
3g.193662861T>GCA355793092OPA1c.2560T>G (p.Leu854Val)
c.2395T>G (p.Leu799Val)
c.2506T>G (p.Leu836Val)
c.2449T>G (p.Leu817Val)
c.2334T>G
c.*620T>G (n.*620T>G)
c.2077T>G (p.Leu693Val)
c.*2476T>G (n.*2476T>G)
c.1982T>G
c.*879T>G (n.*879T>G)
c.2389T>G
c.2410T>G (p.Leu804Val)
c.*1873T>G (n.*1873T>G)
c.*996T>G (n.*996T>G)
c.1383T>G
c.2287T>G (p.Leu763Val)
c.2398T>G (p.Leu800Val)
c.2452T>G (p.Leu818Val)
c.2341T>G (p.Leu781Val)
n.582+6059A>C
c.2026T>G (p.Leu676Val)
c.2023T>G (p.Leu675Val)
n.2814T>G
n.2649T>G
n.601-2776A>C
n.475+7947A>C
n.600+6059A>C
3g.193662862T>ACA355793095OPA1c.2561T>A (p.Leu854Ter)
c.2396T>A (p.Leu799Ter)
c.2507T>A (p.Leu836Ter)
c.2450T>A (p.Leu817Ter)
c.2335T>A
c.*621T>A (n.*621T>A)
c.2078T>A (p.Leu693Ter)
c.*2477T>A (n.*2477T>A)
c.1983T>A
c.*880T>A (n.*880T>A)
c.2390T>A
c.2411T>A (p.Leu804Ter)
c.*1874T>A (n.*1874T>A)
c.*997T>A (n.*997T>A)
c.1384T>A
c.2288T>A (p.Leu763Ter)
c.2399T>A (p.Leu800Ter)
c.2453T>A (p.Leu818Ter)
c.2342T>A (p.Leu781Ter)
n.582+6058A>T
c.2027T>A (p.Leu676Ter)
c.2024T>A (p.Leu675Ter)
n.2815T>A
n.2650T>A
n.601-2777A>T
n.475+7946A>T
n.600+6058A>T
3g.193662862T>CCA355793094OPA1c.2561T>C (p.Leu854Ser)
c.2396T>C (p.Leu799Ser)
c.2507T>C (p.Leu836Ser)
c.2450T>C (p.Leu817Ser)
c.2335T>C
c.*621T>C (n.*621T>C)
c.2078T>C (p.Leu693Ser)
c.*2477T>C (n.*2477T>C)
c.1983T>C
c.*880T>C (n.*880T>C)
c.2390T>C
c.2411T>C (p.Leu804Ser)
c.*1874T>C (n.*1874T>C)
c.*997T>C (n.*997T>C)
c.1384T>C
c.2288T>C (p.Leu763Ser)
c.2399T>C (p.Leu800Ser)
c.2453T>C (p.Leu818Ser)
c.2342T>C (p.Leu781Ser)
n.582+6058A>G
c.2027T>C (p.Leu676Ser)
c.2024T>C (p.Leu675Ser)
n.2815T>C
n.2650T>C
n.601-2777A>G
n.475+7946A>G
n.600+6058A>G
 gnomAD v4
3g.193662862T>GCA355793093OPA1c.2561T>G (p.Leu854Trp)
c.2396T>G (p.Leu799Trp)
c.2507T>G (p.Leu836Trp)
c.2450T>G (p.Leu817Trp)
c.2335T>G
c.*621T>G (n.*621T>G)
c.2078T>G (p.Leu693Trp)
c.*2477T>G (n.*2477T>G)
c.1983T>G
c.*880T>G (n.*880T>G)
c.2390T>G
c.2411T>G (p.Leu804Trp)
c.*1874T>G (n.*1874T>G)
c.*997T>G (n.*997T>G)
c.1384T>G
c.2288T>G (p.Leu763Trp)
c.2399T>G (p.Leu800Trp)
c.2453T>G (p.Leu818Trp)
c.2342T>G (p.Leu781Trp)
n.582+6058A>C
c.2027T>G (p.Leu676Trp)
c.2024T>G (p.Leu675Trp)
n.2815T>G
n.2650T>G
n.601-2777A>C
n.475+7946A>C
n.600+6058A>C
3g.193662863G>ACA437441572OPA1c.2562G>A (p.Leu854=)
c.2397G>A (p.Leu799=)
c.2508G>A (p.Leu836=)
c.2451G>A (p.Leu817=)
c.2336G>A
c.*622G>A (n.*622G>A)
c.2079G>A (p.Leu693=)
c.*2478G>A (n.*2478G>A)
c.1984G>A
c.*881G>A (n.*881G>A)
c.2391G>A
c.2412G>A (p.Leu804=)
c.*1875G>A (n.*1875G>A)
c.*998G>A (n.*998G>A)
c.1385G>A
c.2289G>A (p.Leu763=)
c.2400G>A (p.Leu800=)
c.2454G>A (p.Leu818=)
c.2343G>A (p.Leu781=)
n.582+6057C>T
c.2028G>A (p.Leu676=)
c.2025G>A (p.Leu675=)
n.2816G>A
n.2651G>A
n.601-2778C>T
n.475+7945C>T
n.600+6057C>T
 gnomAD v4
3g.193662863G>CCA355793096OPA1c.2562G>C (p.Leu854Phe)
c.2397G>C (p.Leu799Phe)
c.2508G>C (p.Leu836Phe)
c.2451G>C (p.Leu817Phe)
c.2336G>C
c.*622G>C (n.*622G>C)
c.2079G>C (p.Leu693Phe)
c.*2478G>C (n.*2478G>C)
c.1984G>C
c.*881G>C (n.*881G>C)
c.2391G>C
c.2412G>C (p.Leu804Phe)
c.*1875G>C (n.*1875G>C)
c.*998G>C (n.*998G>C)
c.1385G>C
c.2289G>C (p.Leu763Phe)
c.2400G>C (p.Leu800Phe)
c.2454G>C (p.Leu818Phe)
c.2343G>C (p.Leu781Phe)
n.582+6057C>G
c.2028G>C (p.Leu676Phe)
c.2025G>C (p.Leu675Phe)
n.2816G>C
n.2651G>C
n.601-2778C>G
n.475+7945C>G
n.600+6057C>G
3g.193662863G>TCA355793097OPA1c.2562G>T (p.Leu854Phe)
c.2397G>T (p.Leu799Phe)
c.2508G>T (p.Leu836Phe)
c.2451G>T (p.Leu817Phe)
c.2336G>T
c.*622G>T (n.*622G>T)
c.2079G>T (p.Leu693Phe)
c.*2478G>T (n.*2478G>T)
c.1984G>T
c.*881G>T (n.*881G>T)
c.2391G>T
c.2412G>T (p.Leu804Phe)
c.*1875G>T (n.*1875G>T)
c.*998G>T (n.*998G>T)
c.1385G>T
c.2289G>T (p.Leu763Phe)
c.2400G>T (p.Leu800Phe)
c.2454G>T (p.Leu818Phe)
c.2343G>T (p.Leu781Phe)
n.582+6057C>A
c.2028G>T (p.Leu676Phe)
c.2025G>T (p.Leu675Phe)
n.2816G>T
n.2651G>T
n.601-2778C>A
n.475+7945C>A
n.600+6057C>A
3g.193662864A>CCA355793098OPA1c.2563A>C (p.Lys855Gln)
c.2398A>C (p.Lys800Gln)
c.2509A>C (p.Lys837Gln)
c.2452A>C (p.Lys818Gln)
c.2337A>C
c.*623A>C (n.*623A>C)
c.2080A>C (p.Lys694Gln)
c.*2479A>C (n.*2479A>C)
c.1985A>C
c.*882A>C (n.*882A>C)
c.2392A>C
c.2413A>C (p.Lys805Gln)
c.*1876A>C (n.*1876A>C)
c.*999A>C (n.*999A>C)
c.1386A>C
c.2290A>C (p.Lys764Gln)
c.2401A>C (p.Lys801Gln)
c.2455A>C (p.Lys819Gln)
c.2344A>C (p.Lys782Gln)
n.582+6056T>G
c.2029A>C (p.Lys677Gln)
c.2026A>C (p.Lys676Gln)
n.2817A>C
n.2652A>C
n.601-2779T>G
n.475+7944T>G
n.600+6056T>G
3g.193662864A>GCA355793099OPA1c.2563A>G (p.Lys855Glu)
c.2398A>G (p.Lys800Glu)
c.2509A>G (p.Lys837Glu)
c.2452A>G (p.Lys818Glu)
c.2337A>G
c.*623A>G (n.*623A>G)
c.2080A>G (p.Lys694Glu)
c.*2479A>G (n.*2479A>G)
c.1985A>G
c.*882A>G (n.*882A>G)
c.2392A>G
c.2413A>G (p.Lys805Glu)
c.*1876A>G (n.*1876A>G)
c.*999A>G (n.*999A>G)
c.1386A>G
c.2290A>G (p.Lys764Glu)
c.2401A>G (p.Lys801Glu)
c.2455A>G (p.Lys819Glu)
c.2344A>G (p.Lys782Glu)
n.582+6056T>C
c.2029A>G (p.Lys677Glu)
c.2026A>G (p.Lys676Glu)
n.2817A>G
n.2652A>G
n.601-2779T>C
n.475+7944T>C
n.600+6056T>C
3g.193662864A>TCA355793100OPA1c.2563A>T (p.Lys855Ter)
c.2398A>T (p.Lys800Ter)
c.2509A>T (p.Lys837Ter)
c.2452A>T (p.Lys818Ter)
c.2337A>T
c.*623A>T (n.*623A>T)
c.2080A>T (p.Lys694Ter)
c.*2479A>T (n.*2479A>T)
c.1985A>T
c.*882A>T (n.*882A>T)
c.2392A>T
c.2413A>T (p.Lys805Ter)
c.*1876A>T (n.*1876A>T)
c.*999A>T (n.*999A>T)
c.1386A>T
c.2290A>T (p.Lys764Ter)
c.2401A>T (p.Lys801Ter)
c.2455A>T (p.Lys819Ter)
c.2344A>T (p.Lys782Ter)
n.582+6056T>A
c.2029A>T (p.Lys677Ter)
c.2026A>T (p.Lys676Ter)
n.2817A>T
n.2652A>T
n.601-2779T>A
n.475+7944T>A
n.600+6056T>A
3g.193662865A>CCA355793101OPA1c.2564A>C (p.Lys855Thr)
c.2399A>C (p.Lys800Thr)
c.2510A>C (p.Lys837Thr)
c.2453A>C (p.Lys818Thr)
c.2338A>C
c.*624A>C (n.*624A>C)
c.2081A>C (p.Lys694Thr)
c.*2480A>C (n.*2480A>C)
c.1986A>C
c.*883A>C (n.*883A>C)
c.2393A>C
c.2414A>C (p.Lys805Thr)
c.*1877A>C (n.*1877A>C)
c.*1000A>C (n.*1000A>C)
c.1387A>C
c.2291A>C (p.Lys764Thr)
c.2402A>C (p.Lys801Thr)
c.2456A>C (p.Lys819Thr)
c.2345A>C (p.Lys782Thr)
n.582+6055T>G
c.2030A>C (p.Lys677Thr)
c.2027A>C (p.Lys676Thr)
n.2818A>C
n.2653A>C
n.601-2780T>G
n.475+7943T>G
n.600+6055T>G
 gnomAD v4
3g.193662865A>GCA355793102OPA1c.2564A>G (p.Lys855Arg)
c.2399A>G (p.Lys800Arg)
c.2510A>G (p.Lys837Arg)
c.2453A>G (p.Lys818Arg)
c.2338A>G
c.*624A>G (n.*624A>G)
c.2081A>G (p.Lys694Arg)
c.*2480A>G (n.*2480A>G)
c.1986A>G
c.*883A>G (n.*883A>G)
c.2393A>G
c.2414A>G (p.Lys805Arg)
c.*1877A>G (n.*1877A>G)
c.*1000A>G (n.*1000A>G)
c.1387A>G
c.2291A>G (p.Lys764Arg)
c.2402A>G (p.Lys801Arg)
c.2456A>G (p.Lys819Arg)
c.2345A>G (p.Lys782Arg)
n.582+6055T>C
c.2030A>G (p.Lys677Arg)
c.2027A>G (p.Lys676Arg)
n.2818A>G
n.2653A>G
n.601-2780T>C
n.475+7943T>C
n.600+6055T>C
3g.193662865A>TCA355793103OPA1c.2564A>T (p.Lys855Ile)
c.2399A>T (p.Lys800Ile)
c.2510A>T (p.Lys837Ile)
c.2453A>T (p.Lys818Ile)
c.2338A>T
c.*624A>T (n.*624A>T)
c.2081A>T (p.Lys694Ile)
c.*2480A>T (n.*2480A>T)
c.1986A>T
c.*883A>T (n.*883A>T)
c.2393A>T
c.2414A>T (p.Lys805Ile)
c.*1877A>T (n.*1877A>T)
c.*1000A>T (n.*1000A>T)
c.1387A>T
c.2291A>T (p.Lys764Ile)
c.2402A>T (p.Lys801Ile)
c.2456A>T (p.Lys819Ile)
c.2345A>T (p.Lys782Ile)
n.582+6055T>A
c.2030A>T (p.Lys677Ile)
c.2027A>T (p.Lys676Ile)
n.2818A>T
n.2653A>T
n.601-2780T>A
n.475+7943T>A
n.600+6055T>A
3g.193662866A>CCA355793104OPA1c.2565A>C (p.Lys855Asn)
c.2400A>C (p.Lys800Asn)
c.2511A>C (p.Lys837Asn)
c.2454A>C (p.Lys818Asn)
c.2339A>C
c.*625A>C (n.*625A>C)
c.2082A>C (p.Lys694Asn)
c.*2481A>C (n.*2481A>C)
c.1987A>C
c.*884A>C (n.*884A>C)
c.2394A>C
c.2415A>C (p.Lys805Asn)
c.*1878A>C (n.*1878A>C)
c.*1001A>C (n.*1001A>C)
c.1388A>C
c.2292A>C (p.Lys764Asn)
c.2403A>C (p.Lys801Asn)
c.2457A>C (p.Lys819Asn)
c.2346A>C (p.Lys782Asn)
n.582+6054T>G
c.2031A>C (p.Lys677Asn)
c.2028A>C (p.Lys676Asn)
n.2819A>C
n.2654A>C
n.601-2781T>G
n.475+7942T>G
n.600+6054T>G
3g.193662866A>GCA437441573OPA1c.2565A>G (p.Lys855=)
c.2400A>G (p.Lys800=)
c.2511A>G (p.Lys837=)
c.2454A>G (p.Lys818=)
c.2339A>G
c.*625A>G (n.*625A>G)
c.2082A>G (p.Lys694=)
c.*2481A>G (n.*2481A>G)
c.1987A>G
c.*884A>G (n.*884A>G)
c.2394A>G
c.2415A>G (p.Lys805=)
c.*1878A>G (n.*1878A>G)
c.*1001A>G (n.*1001A>G)
c.1388A>G
c.2292A>G (p.Lys764=)
c.2403A>G (p.Lys801=)
c.2457A>G (p.Lys819=)
c.2346A>G (p.Lys782=)
n.582+6054T>C
c.2031A>G (p.Lys677=)
c.2028A>G (p.Lys676=)
n.2819A>G
n.2654A>G
n.601-2781T>C
n.475+7942T>C
n.600+6054T>C
3g.193662866A>TCA355793105OPA1c.2565A>T (p.Lys855Asn)
c.2400A>T (p.Lys800Asn)
c.2511A>T (p.Lys837Asn)
c.2454A>T (p.Lys818Asn)
c.2339A>T
c.*625A>T (n.*625A>T)
c.2082A>T (p.Lys694Asn)
c.*2481A>T (n.*2481A>T)
c.1987A>T
c.*884A>T (n.*884A>T)
c.2394A>T
c.2415A>T (p.Lys805Asn)
c.*1878A>T (n.*1878A>T)
c.*1001A>T (n.*1001A>T)
c.1388A>T
c.2292A>T (p.Lys764Asn)
c.2403A>T (p.Lys801Asn)
c.2457A>T (p.Lys819Asn)
c.2346A>T (p.Lys782Asn)
n.582+6054T>A
c.2031A>T (p.Lys677Asn)
c.2028A>T (p.Lys676Asn)
n.2819A>T
n.2654A>T
n.601-2781T>A
n.475+7942T>A
n.600+6054T>A
3g.193662867T>ACA355793106OPA1c.2566T>A (p.Cys856Ser)
c.2401T>A (p.Cys801Ser)
c.2512T>A (p.Cys838Ser)
c.2455T>A (p.Cys819Ser)
c.2340T>A
c.*626T>A (n.*626T>A)
c.2083T>A (p.Cys695Ser)
c.*2482T>A (n.*2482T>A)
c.1988T>A
c.*885T>A (n.*885T>A)
c.2395T>A
c.2416T>A (p.Cys806Ser)
c.*1879T>A (n.*1879T>A)
c.*1002T>A (n.*1002T>A)
c.1389T>A
c.2293T>A (p.Cys765Ser)
c.2404T>A (p.Cys802Ser)
c.2458T>A (p.Cys820Ser)
c.2347T>A (p.Cys783Ser)
n.582+6053A>T
c.2032T>A (p.Cys678Ser)
c.2029T>A (p.Cys677Ser)
n.2820T>A
n.2655T>A
n.601-2782A>T
n.475+7941A>T
n.600+6053A>T
3g.193662867T>CCA355793107OPA1c.2566T>C (p.Cys856Arg)
c.2401T>C (p.Cys801Arg)
c.2512T>C (p.Cys838Arg)
c.2455T>C (p.Cys819Arg)
c.2340T>C
c.*626T>C (n.*626T>C)
c.2083T>C (p.Cys695Arg)
c.*2482T>C (n.*2482T>C)
c.1988T>C
c.*885T>C (n.*885T>C)
c.2395T>C
c.2416T>C (p.Cys806Arg)
c.*1879T>C (n.*1879T>C)
c.*1002T>C (n.*1002T>C)
c.1389T>C
c.2293T>C (p.Cys765Arg)
c.2404T>C (p.Cys802Arg)
c.2458T>C (p.Cys820Arg)
c.2347T>C (p.Cys783Arg)
n.582+6053A>G
c.2032T>C (p.Cys678Arg)
c.2029T>C (p.Cys677Arg)
n.2820T>C
n.2655T>C
n.601-2782A>G
n.475+7941A>G
n.600+6053A>G
 gnomAD v4
3g.193662867T>GCA355793108OPA1c.2566T>G (p.Cys856Gly)
c.2401T>G (p.Cys801Gly)
c.2512T>G (p.Cys838Gly)
c.2455T>G (p.Cys819Gly)
c.2340T>G
c.*626T>G (n.*626T>G)
c.2083T>G (p.Cys695Gly)
c.*2482T>G (n.*2482T>G)
c.1988T>G
c.*885T>G (n.*885T>G)
c.2395T>G
c.2416T>G (p.Cys806Gly)
c.*1879T>G (n.*1879T>G)
c.*1002T>G (n.*1002T>G)
c.1389T>G
c.2293T>G (p.Cys765Gly)
c.2404T>G (p.Cys802Gly)
c.2458T>G (p.Cys820Gly)
c.2347T>G (p.Cys783Gly)
n.582+6053A>C
c.2032T>G (p.Cys678Gly)
c.2029T>G (p.Cys677Gly)
n.2820T>G
n.2655T>G
n.601-2782A>C
n.475+7941A>C
n.600+6053A>C
3g.193662868G>ACA355793111OPA1c.2567G>A (p.Cys856Tyr)
c.2402G>A (p.Cys801Tyr)
c.2513G>A (p.Cys838Tyr)
c.2456G>A (p.Cys819Tyr)
c.2341G>A
c.*627G>A (n.*627G>A)
c.2084G>A (p.Cys695Tyr)
c.*2483G>A (n.*2483G>A)
c.1989G>A
c.*886G>A (n.*886G>A)
c.2396G>A
c.2417G>A (p.Cys806Tyr)
c.*1880G>A (n.*1880G>A)
c.*1003G>A (n.*1003G>A)
c.1390G>A
c.2294G>A (p.Cys765Tyr)
c.2405G>A (p.Cys802Tyr)
c.2459G>A (p.Cys820Tyr)
c.2348G>A (p.Cys783Tyr)
n.582+6052C>T
c.2033G>A (p.Cys678Tyr)
c.2030G>A (p.Cys677Tyr)
n.2821G>A
n.2656G>A
n.601-2783C>T
n.475+7940C>T
n.600+6052C>T
3g.193662868G>CCA355793110OPA1c.2567G>C (p.Cys856Ser)
c.2402G>C (p.Cys801Ser)
c.2513G>C (p.Cys838Ser)
c.2456G>C (p.Cys819Ser)
c.2341G>C
c.*627G>C (n.*627G>C)
c.2084G>C (p.Cys695Ser)
c.*2483G>C (n.*2483G>C)
c.1989G>C
c.*886G>C (n.*886G>C)
c.2396G>C
c.2417G>C (p.Cys806Ser)
c.*1880G>C (n.*1880G>C)
c.*1003G>C (n.*1003G>C)
c.1390G>C
c.2294G>C (p.Cys765Ser)
c.2405G>C (p.Cys802Ser)
c.2459G>C (p.Cys820Ser)
c.2348G>C (p.Cys783Ser)
n.582+6052C>G
c.2033G>C (p.Cys678Ser)
c.2030G>C (p.Cys677Ser)
n.2821G>C
n.2656G>C
n.601-2783C>G
n.475+7940C>G
n.600+6052C>G
 dbSNP gnomAD v3 gnomAD v4
3g.193662868G=CA1430270634OPA1c.2567G= (p.Cys856=)
c.2402G= (p.Cys801=)
c.2513G= (p.Cys838=)
c.2456G= (p.Cys819=)
c.2341G=
c.*627G= (n.*627G=)
c.2084G= (p.Cys695=)
c.*2483G= (n.*2483G=)
c.1989G=
c.*886G= (n.*886G=)
c.2396G=
c.2417G= (p.Cys806=)
c.*1880G= (n.*1880G=)
c.*1003G= (n.*1003G=)
c.1390G=
c.2294G= (p.Cys765=)
c.2405G= (p.Cys802=)
c.2459G= (p.Cys820=)
c.2348G= (p.Cys783=)
n.582+6052C=
c.2033G= (p.Cys678=)
c.2030G= (p.Cys677=)
n.2821G=
n.2656G=
n.601-2783C=
n.475+7940C=
n.600+6052C=
3g.193662868G>TCA355793109OPA1c.2567G>T (p.Cys856Phe)
c.2402G>T (p.Cys801Phe)
c.2513G>T (p.Cys838Phe)
c.2456G>T (p.Cys819Phe)
c.2341G>T
c.*627G>T (n.*627G>T)
c.2084G>T (p.Cys695Phe)
c.*2483G>T (n.*2483G>T)
c.1989G>T
c.*886G>T (n.*886G>T)
c.2396G>T
c.2417G>T (p.Cys806Phe)
c.*1880G>T (n.*1880G>T)
c.*1003G>T (n.*1003G>T)
c.1390G>T
c.2294G>T (p.Cys765Phe)
c.2405G>T (p.Cys802Phe)
c.2459G>T (p.Cys820Phe)
c.2348G>T (p.Cys783Phe)
n.582+6052C>A
c.2033G>T (p.Cys678Phe)
c.2030G>T (p.Cys677Phe)
n.2821G>T
n.2656G>T
n.601-2783C>A
n.475+7940C>A
n.600+6052C>A
3g.193662869T>ACA355793112OPA1c.2568T>A (p.Cys856Ter)
c.2403T>A (p.Cys801Ter)
c.2514T>A (p.Cys838Ter)
c.2457T>A (p.Cys819Ter)
c.2342T>A
c.*628T>A (n.*628T>A)
c.2085T>A (p.Cys695Ter)
c.*2484T>A (n.*2484T>A)
c.1990T>A
c.*887T>A (n.*887T>A)
c.2397T>A
c.2418T>A (p.Cys806Ter)
c.*1881T>A (n.*1881T>A)
c.*1004T>A (n.*1004T>A)
c.1391T>A
c.2295T>A (p.Cys765Ter)
c.2406T>A (p.Cys802Ter)
c.2460T>A (p.Cys820Ter)
c.2349T>A (p.Cys783Ter)
n.582+6051A>T
c.2034T>A (p.Cys678Ter)
c.2031T>A (p.Cys677Ter)
n.2822T>A
n.2657T>A
n.601-2784A>T
n.475+7939A>T
n.600+6051A>T
3g.193662869T>CCA437441574OPA1c.2568T>C (p.Cys856=)
c.2403T>C (p.Cys801=)
c.2514T>C (p.Cys838=)
c.2457T>C (p.Cys819=)
c.2342T>C
c.*628T>C (n.*628T>C)
c.2085T>C (p.Cys695=)
c.*2484T>C (n.*2484T>C)
c.1990T>C
c.*887T>C (n.*887T>C)
c.2397T>C
c.2418T>C (p.Cys806=)
c.*1881T>C (n.*1881T>C)
c.*1004T>C (n.*1004T>C)
c.1391T>C
c.2295T>C (p.Cys765=)
c.2406T>C (p.Cys802=)
c.2460T>C (p.Cys820=)
c.2349T>C (p.Cys783=)
n.582+6051A>G
c.2034T>C (p.Cys678=)
c.2031T>C (p.Cys677=)
n.2822T>C
n.2657T>C
n.601-2784A>G
n.475+7939A>G
n.600+6051A>G
 ClinVar
3g.193662869T>GCA355793113OPA1c.2568T>G (p.Cys856Trp)
c.2403T>G (p.Cys801Trp)
c.2514T>G (p.Cys838Trp)
c.2457T>G (p.Cys819Trp)
c.2342T>G
c.*628T>G (n.*628T>G)
c.2085T>G (p.Cys695Trp)
c.*2484T>G (n.*2484T>G)
c.1990T>G
c.*887T>G (n.*887T>G)
c.2397T>G
c.2418T>G (p.Cys806Trp)
c.*1881T>G (n.*1881T>G)
c.*1004T>G (n.*1004T>G)
c.1391T>G
c.2295T>G (p.Cys765Trp)
c.2406T>G (p.Cys802Trp)
c.2460T>G (p.Cys820Trp)
c.2349T>G (p.Cys783Trp)
n.582+6051A>C
c.2034T>G (p.Cys678Trp)
c.2031T>G (p.Cys677Trp)
n.2822T>G
n.2657T>G
n.601-2784A>C
n.475+7939A>C
n.600+6051A>C
3g.193662870A>CCA355793114OPA1c.2569A>C (p.Asn857His)
c.2404A>C (p.Asn802His)
c.2515A>C (p.Asn839His)
c.2458A>C (p.Asn820His)
c.2343A>C
c.*629A>C (n.*629A>C)
c.2086A>C (p.Asn696His)
c.*2485A>C (n.*2485A>C)
c.1991A>C
c.*888A>C (n.*888A>C)
c.2398A>C
c.2419A>C (p.Asn807His)
c.*1882A>C (n.*1882A>C)
c.*1005A>C (n.*1005A>C)
c.1392A>C
c.2296A>C (p.Asn766His)
c.2407A>C (p.Asn803His)
c.2461A>C (p.Asn821His)
c.2350A>C (p.Asn784His)
n.582+6050T>G
c.2035A>C (p.Asn679His)
c.2032A>C (p.Asn678His)
n.2823A>C
n.2658A>C
n.601-2785T>G
n.475+7938T>G
n.600+6050T>G
3g.193662870A>GCA355793116OPA1c.2569A>G (p.Asn857Asp)
c.2404A>G (p.Asn802Asp)
c.2515A>G (p.Asn839Asp)
c.2458A>G (p.Asn820Asp)
c.2343A>G
c.*629A>G (n.*629A>G)
c.2086A>G (p.Asn696Asp)
c.*2485A>G (n.*2485A>G)
c.1991A>G
c.*888A>G (n.*888A>G)
c.2398A>G
c.2419A>G (p.Asn807Asp)
c.*1882A>G (n.*1882A>G)
c.*1005A>G (n.*1005A>G)
c.1392A>G
c.2296A>G (p.Asn766Asp)
c.2407A>G (p.Asn803Asp)
c.2461A>G (p.Asn821Asp)
c.2350A>G (p.Asn784Asp)
n.582+6050T>C
c.2035A>G (p.Asn679Asp)
c.2032A>G (p.Asn678Asp)
n.2823A>G
n.2658A>G
n.601-2785T>C
n.475+7938T>C
n.600+6050T>C
 ClinVar dbSNP COSMIC
3g.193662870A>TCA355793115OPA1c.2569A>T (p.Asn857Tyr)
c.2404A>T (p.Asn802Tyr)
c.2515A>T (p.Asn839Tyr)
c.2458A>T (p.Asn820Tyr)
c.2343A>T
c.*629A>T (n.*629A>T)
c.2086A>T (p.Asn696Tyr)
c.*2485A>T (n.*2485A>T)
c.1991A>T
c.*888A>T (n.*888A>T)
c.2398A>T
c.2419A>T (p.Asn807Tyr)
c.*1882A>T (n.*1882A>T)
c.*1005A>T (n.*1005A>T)
c.1392A>T
c.2296A>T (p.Asn766Tyr)
c.2407A>T (p.Asn803Tyr)
c.2461A>T (p.Asn821Tyr)
c.2350A>T (p.Asn784Tyr)
n.582+6050T>A
c.2035A>T (p.Asn679Tyr)
c.2032A>T (p.Asn678Tyr)
n.2823A>T
n.2658A>T
n.601-2785T>A
n.475+7938T>A
n.600+6050T>A
3g.193662871A>CCA355793117OPA1c.2570A>C (p.Asn857Thr)
c.2405A>C (p.Asn802Thr)
c.2516A>C (p.Asn839Thr)
c.2459A>C (p.Asn820Thr)
c.2344A>C
c.*630A>C (n.*630A>C)
c.2087A>C (p.Asn696Thr)
c.*2486A>C (n.*2486A>C)
c.1992A>C
c.*889A>C (n.*889A>C)
c.2399A>C
c.2420A>C (p.Asn807Thr)
c.*1883A>C (n.*1883A>C)
c.*1006A>C (n.*1006A>C)
c.1393A>C
c.2297A>C (p.Asn766Thr)
c.2408A>C (p.Asn803Thr)
c.2462A>C (p.Asn821Thr)
c.2351A>C (p.Asn784Thr)
n.582+6049T>G
c.2036A>C (p.Asn679Thr)
c.2033A>C (p.Asn678Thr)
n.2824A>C
n.2659A>C
n.601-2786T>G
n.475+7937T>G
n.600+6049T>G
3g.193662871A>GCA355793118OPA1c.2570A>G (p.Asn857Ser)
c.2405A>G (p.Asn802Ser)
c.2516A>G (p.Asn839Ser)
c.2459A>G (p.Asn820Ser)
c.2344A>G
c.*630A>G (n.*630A>G)
c.2087A>G (p.Asn696Ser)
c.*2486A>G (n.*2486A>G)
c.1992A>G
c.*889A>G (n.*889A>G)
c.2399A>G
c.2420A>G (p.Asn807Ser)
c.*1883A>G (n.*1883A>G)
c.*1006A>G (n.*1006A>G)
c.1393A>G
c.2297A>G (p.Asn766Ser)
c.2408A>G (p.Asn803Ser)
c.2462A>G (p.Asn821Ser)
c.2351A>G (p.Asn784Ser)
n.582+6049T>C
c.2036A>G (p.Asn679Ser)
c.2033A>G (p.Asn678Ser)
n.2824A>G
n.2659A>G
n.601-2786T>C
n.475+7937T>C
n.600+6049T>C
3g.193662871A>TCA355793119OPA1c.2570A>T (p.Asn857Ile)
c.2405A>T (p.Asn802Ile)
c.2516A>T (p.Asn839Ile)
c.2459A>T (p.Asn820Ile)
c.2344A>T
c.*630A>T (n.*630A>T)
c.2087A>T (p.Asn696Ile)
c.*2486A>T (n.*2486A>T)
c.1992A>T
c.*889A>T (n.*889A>T)
c.2399A>T
c.2420A>T (p.Asn807Ile)
c.*1883A>T (n.*1883A>T)
c.*1006A>T (n.*1006A>T)
c.1393A>T
c.2297A>T (p.Asn766Ile)
c.2408A>T (p.Asn803Ile)
c.2462A>T (p.Asn821Ile)
c.2351A>T (p.Asn784Ile)
n.582+6049T>A
c.2036A>T (p.Asn679Ile)
c.2033A>T (p.Asn678Ile)
n.2824A>T
n.2659A>T
n.601-2786T>A
n.475+7937T>A
n.600+6049T>A
3g.193662872T>ACA355793120OPA1c.2571T>A (p.Asn857Lys)
c.2406T>A (p.Asn802Lys)
c.2517T>A (p.Asn839Lys)
c.2460T>A (p.Asn820Lys)
c.2345T>A
c.*631T>A (n.*631T>A)
c.2088T>A (p.Asn696Lys)
c.*2487T>A (n.*2487T>A)
c.1993T>A
c.*890T>A (n.*890T>A)
c.2400T>A
c.2421T>A (p.Asn807Lys)
c.*1884T>A (n.*1884T>A)
c.*1007T>A (n.*1007T>A)
c.1394T>A
c.2298T>A (p.Asn766Lys)
c.2409T>A (p.Asn803Lys)
c.2463T>A (p.Asn821Lys)
c.2352T>A (p.Asn784Lys)
n.582+6048A>T
c.2037T>A (p.Asn679Lys)
c.2034T>A (p.Asn678Lys)
n.2825T>A
n.2660T>A
n.601-2787A>T
n.475+7936A>T
n.600+6048A>T
3g.193662872T>CCA437441576OPA1c.2571T>C (p.Asn857=)
c.2406T>C (p.Asn802=)
c.2517T>C (p.Asn839=)
c.2460T>C (p.Asn820=)
c.2345T>C
c.*631T>C (n.*631T>C)
c.2088T>C (p.Asn696=)
c.*2487T>C (n.*2487T>C)
c.1993T>C
c.*890T>C (n.*890T>C)
c.2400T>C
c.2421T>C (p.Asn807=)
c.*1884T>C (n.*1884T>C)
c.*1007T>C (n.*1007T>C)
c.1394T>C
c.2298T>C (p.Asn766=)
c.2409T>C (p.Asn803=)
c.2463T>C (p.Asn821=)
c.2352T>C (p.Asn784=)
n.582+6048A>G
c.2037T>C (p.Asn679=)
c.2034T>C (p.Asn678=)
n.2825T>C
n.2660T>C
n.601-2787A>G
n.475+7936A>G
n.600+6048A>G
 dbSNP gnomAD v4
3g.193662872T>GCA355793121OPA1c.2571T>G (p.Asn857Lys)
c.2406T>G (p.Asn802Lys)
c.2517T>G (p.Asn839Lys)
c.2460T>G (p.Asn820Lys)
c.2345T>G
c.*631T>G (n.*631T>G)
c.2088T>G (p.Asn696Lys)
c.*2487T>G (n.*2487T>G)
c.1993T>G
c.*890T>G (n.*890T>G)
c.2400T>G
c.2421T>G (p.Asn807Lys)
c.*1884T>G (n.*1884T>G)
c.*1007T>G (n.*1007T>G)
c.1394T>G
c.2298T>G (p.Asn766Lys)
c.2409T>G (p.Asn803Lys)
c.2463T>G (p.Asn821Lys)
c.2352T>G (p.Asn784Lys)
n.582+6048A>C
c.2037T>G (p.Asn679Lys)
c.2034T>G (p.Asn678Lys)
n.2825T>G
n.2660T>G
n.601-2787A>C
n.475+7936A>C
n.600+6048A>C
3g.193662872T=CA1430270637OPA1c.2571T= (p.Asn857=)
c.2406T= (p.Asn802=)
c.2517T= (p.Asn839=)
c.2460T= (p.Asn820=)
c.2345T=
c.*631T= (n.*631T=)
c.2088T= (p.Asn696=)
c.*2487T= (n.*2487T=)
c.1993T=
c.*890T= (n.*890T=)
c.2400T=
c.2421T= (p.Asn807=)
c.*1884T= (n.*1884T=)
c.*1007T= (n.*1007T=)
c.1394T=
c.2298T= (p.Asn766=)
c.2409T= (p.Asn803=)
c.2463T= (p.Asn821=)
c.2352T= (p.Asn784=)
n.582+6048A=
c.2037T= (p.Asn679=)
c.2034T= (p.Asn678=)
n.2825T=
n.2660T=
n.601-2787A=
n.475+7936A=
n.600+6048A=
3g.193662872_193662875delinsTGAGCA1430270639OPA1c.2571_2574delinsTGAG (p.Asn857=)
c.2406_2409delinsTGAG (p.Asn802=)
c.2517_2520delinsTGAG (p.Asn839=)
c.2460_2463delinsTGAG (p.Asn820=)
c.2345_2348delinsTGAG
c.*631_*634delinsTGAG (n.*631_*634delinsTGAG)
c.2088_2091delinsTGAG (p.Asn696=)
c.*2487_*2490delinsTGAG (n.*2487_*2490delinsTGAG)
c.1993_1996delinsTGAG
c.*890_*893delinsTGAG (n.*890_*893delinsTGAG)
c.2400_2403delinsTGAG
c.2421_2424delinsTGAG (p.Asn807=)
c.*1884_*1887delinsTGAG (n.*1884_*1887delinsTGAG)
c.*1007_*1010delinsTGAG (n.*1007_*1010delinsTGAG)
c.1394_1397delinsTGAG
c.2298_2301delinsTGAG (p.Asn766=)
c.2409_2412delinsTGAG (p.Asn803=)
c.2463_2466delinsTGAG (p.Asn821=)
c.2352_2355delinsTGAG (p.Asn784=)
n.582+6045_582+6048delinsCTCA
c.2037_2040delinsTGAG (p.Asn679=)
c.2034_2037delinsTGAG (p.Asn678=)
n.2825_2828delinsTGAG
n.2660_2663delinsTGAG
n.601-2790_601-2787delinsCTCA
n.475+7933_475+7936delinsCTCA
n.600+6045_600+6048delinsCTCA
3g.193662873G>ACA355793122OPA1c.2572G>A (p.Glu858Lys)
c.2407G>A (p.Glu803Lys)
c.2518G>A (p.Glu840Lys)
c.2461G>A (p.Glu821Lys)
c.2346G>A
c.*632G>A (n.*632G>A)
c.2089G>A (p.Glu697Lys)
c.*2488G>A (n.*2488G>A)
c.1994G>A
c.*891G>A (n.*891G>A)
c.2401G>A
c.2422G>A (p.Glu808Lys)
c.*1885G>A (n.*1885G>A)
c.*1008G>A (n.*1008G>A)
c.1395G>A
c.2299G>A (p.Glu767Lys)
c.2410G>A (p.Glu804Lys)
c.2464G>A (p.Glu822Lys)
c.2353G>A (p.Glu785Lys)
n.582+6047C>T
c.2038G>A (p.Glu680Lys)
c.2035G>A (p.Glu679Lys)
n.2826G>A
n.2661G>A
n.601-2788C>T
n.475+7935C>T
n.600+6047C>T
3g.193662873G>CCA355793123OPA1c.2572G>C (p.Glu858Gln)
c.2407G>C (p.Glu803Gln)
c.2518G>C (p.Glu840Gln)
c.2461G>C (p.Glu821Gln)
c.2346G>C
c.*632G>C (n.*632G>C)
c.2089G>C (p.Glu697Gln)
c.*2488G>C (n.*2488G>C)
c.1994G>C
c.*891G>C (n.*891G>C)
c.2401G>C
c.2422G>C (p.Glu808Gln)
c.*1885G>C (n.*1885G>C)
c.*1008G>C (n.*1008G>C)
c.1395G>C
c.2299G>C (p.Glu767Gln)
c.2410G>C (p.Glu804Gln)
c.2464G>C (p.Glu822Gln)
c.2353G>C (p.Glu785Gln)
n.582+6047C>G
c.2038G>C (p.Glu680Gln)
c.2035G>C (p.Glu679Gln)
n.2826G>C
n.2661G>C
n.601-2788C>G
n.475+7935C>G
n.600+6047C>G
3g.193662873G>TCA355793124OPA1c.2572G>T (p.Glu858Ter)
c.2407G>T (p.Glu803Ter)
c.2518G>T (p.Glu840Ter)
c.2461G>T (p.Glu821Ter)
c.2346G>T
c.*632G>T (n.*632G>T)
c.2089G>T (p.Glu697Ter)
c.*2488G>T (n.*2488G>T)
c.1994G>T
c.*891G>T (n.*891G>T)
c.2401G>T
c.2422G>T (p.Glu808Ter)
c.*1885G>T (n.*1885G>T)
c.*1008G>T (n.*1008G>T)
c.1395G>T
c.2299G>T (p.Glu767Ter)
c.2410G>T (p.Glu804Ter)
c.2464G>T (p.Glu822Ter)
c.2353G>T (p.Glu785Ter)
n.582+6047C>A
c.2038G>T (p.Glu680Ter)
c.2035G>T (p.Glu679Ter)
n.2826G>T
n.2661G>T
n.601-2788C>A
n.475+7935C>A
n.600+6047C>A
 ClinVar
3g.193662876_193662878delCA1057911373OPA1c.2575_2577del (p.Glu859del)
c.2410_2412del (p.Glu804del)
c.2521_2523del (p.Glu841del)
c.2464_2466del (p.Glu822del)
c.2349_2351del
c.*635_*637del (n.*635_*637del)
c.2092_2094del (p.Glu698del)
c.*2491_*2493del (n.*2491_*2493del)
c.1997_1999del
c.*894_*896del (n.*894_*896del)
c.2404_2406del
c.2425_2427del (p.Glu809del)
c.*1888_*1890del (n.*1888_*1890del)
c.*1011_*1013del (n.*1011_*1013del)
c.1398_1400del
c.2302_2304del (p.Glu768del)
c.2413_2415del (p.Glu805del)
c.2467_2469del (p.Glu823del)
c.2356_2358del (p.Glu786del)
n.582+6045_582+6047del
c.2041_2043del (p.Glu681del)
c.2038_2040del (p.Glu680del)
n.2829_2831del
n.2664_2666del
n.601-2790_601-2788del
n.475+7933_475+7935del
n.600+6045_600+6047del
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.193662874A>CCA355793125OPA1c.2573A>C (p.Glu858Ala)
c.2408A>C (p.Glu803Ala)
c.2519A>C (p.Glu840Ala)
c.2462A>C (p.Glu821Ala)
c.2347A>C
c.*633A>C (n.*633A>C)
c.2090A>C (p.Glu697Ala)
c.*2489A>C (n.*2489A>C)
c.1995A>C
c.*892A>C (n.*892A>C)
c.2402A>C
c.2423A>C (p.Glu808Ala)
c.*1886A>C (n.*1886A>C)
c.*1009A>C (n.*1009A>C)
c.1396A>C
c.2300A>C (p.Glu767Ala)
c.2411A>C (p.Glu804Ala)
c.2465A>C (p.Glu822Ala)
c.2354A>C (p.Glu785Ala)
n.582+6046T>G
c.2039A>C (p.Glu680Ala)
c.2036A>C (p.Glu679Ala)
n.2827A>C
n.2662A>C
n.601-2789T>G
n.475+7934T>G
n.600+6046T>G
3g.193662874A>GCA355793126OPA1c.2573A>G (p.Glu858Gly)
c.2408A>G (p.Glu803Gly)
c.2519A>G (p.Glu840Gly)
c.2462A>G (p.Glu821Gly)
c.2347A>G
c.*633A>G (n.*633A>G)
c.2090A>G (p.Glu697Gly)
c.*2489A>G (n.*2489A>G)
c.1995A>G
c.*892A>G (n.*892A>G)
c.2402A>G
c.2423A>G (p.Glu808Gly)
c.*1886A>G (n.*1886A>G)
c.*1009A>G (n.*1009A>G)
c.1396A>G
c.2300A>G (p.Glu767Gly)
c.2411A>G (p.Glu804Gly)
c.2465A>G (p.Glu822Gly)
c.2354A>G (p.Glu785Gly)
n.582+6046T>C
c.2039A>G (p.Glu680Gly)
c.2036A>G (p.Glu679Gly)
n.2827A>G
n.2662A>G
n.601-2789T>C
n.475+7934T>C
n.600+6046T>C
3g.193662874A>TCA355793127OPA1c.2573A>T (p.Glu858Val)
c.2408A>T (p.Glu803Val)
c.2519A>T (p.Glu840Val)
c.2462A>T (p.Glu821Val)
c.2347A>T
c.*633A>T (n.*633A>T)
c.2090A>T (p.Glu697Val)
c.*2489A>T (n.*2489A>T)
c.1995A>T
c.*892A>T (n.*892A>T)
c.2402A>T
c.2423A>T (p.Glu808Val)
c.*1886A>T (n.*1886A>T)
c.*1009A>T (n.*1009A>T)
c.1396A>T
c.2300A>T (p.Glu767Val)
c.2411A>T (p.Glu804Val)
c.2465A>T (p.Glu822Val)
c.2354A>T (p.Glu785Val)
n.582+6046T>A
c.2039A>T (p.Glu680Val)
c.2036A>T (p.Glu679Val)
n.2827A>T
n.2662A>T
n.601-2789T>A
n.475+7934T>A
n.600+6046T>A
3g.193662875G>ACA437441577OPA1c.2574G>A (p.Glu858=)
c.2409G>A (p.Glu803=)
c.2520G>A (p.Glu840=)
c.2463G>A (p.Glu821=)
c.2348G>A
c.*634G>A (n.*634G>A)
c.2091G>A (p.Glu697=)
c.*2490G>A (n.*2490G>A)
c.1996G>A
c.*893G>A (n.*893G>A)
c.2403G>A
c.2424G>A (p.Glu808=)
c.*1887G>A (n.*1887G>A)
c.*1010G>A (n.*1010G>A)
c.1397G>A
c.2301G>A (p.Glu767=)
c.2412G>A (p.Glu804=)
c.2466G>A (p.Glu822=)
c.2355G>A (p.Glu785=)
n.582+6045C>T
c.2040G>A (p.Glu680=)
c.2037G>A (p.Glu679=)
n.2828G>A
n.2663G>A
n.601-2790C>T
n.475+7933C>T
n.600+6045C>T
3g.193662875G>CCA355793128OPA1c.2574G>C (p.Glu858Asp)
c.2409G>C (p.Glu803Asp)
c.2520G>C (p.Glu840Asp)
c.2463G>C (p.Glu821Asp)
c.2348G>C
c.*634G>C (n.*634G>C)
c.2091G>C (p.Glu697Asp)
c.*2490G>C (n.*2490G>C)
c.1996G>C
c.*893G>C (n.*893G>C)
c.2403G>C
c.2424G>C (p.Glu808Asp)
c.*1887G>C (n.*1887G>C)
c.*1010G>C (n.*1010G>C)
c.1397G>C
c.2301G>C (p.Glu767Asp)
c.2412G>C (p.Glu804Asp)
c.2466G>C (p.Glu822Asp)
c.2355G>C (p.Glu785Asp)
n.582+6045C>G
c.2040G>C (p.Glu680Asp)
c.2037G>C (p.Glu679Asp)
n.2828G>C
n.2663G>C
n.601-2790C>G
n.475+7933C>G
n.600+6045C>G
3g.193662875G>TCA355793129OPA1c.2574G>T (p.Glu858Asp)
c.2409G>T (p.Glu803Asp)
c.2520G>T (p.Glu840Asp)
c.2463G>T (p.Glu821Asp)
c.2348G>T
c.*634G>T (n.*634G>T)
c.2091G>T (p.Glu697Asp)
c.*2490G>T (n.*2490G>T)
c.1996G>T
c.*893G>T (n.*893G>T)
c.2403G>T
c.2424G>T (p.Glu808Asp)
c.*1887G>T (n.*1887G>T)
c.*1010G>T (n.*1010G>T)
c.1397G>T
c.2301G>T (p.Glu767Asp)
c.2412G>T (p.Glu804Asp)
c.2466G>T (p.Glu822Asp)
c.2355G>T (p.Glu785Asp)
n.582+6045C>A
c.2040G>T (p.Glu680Asp)
c.2037G>T (p.Glu679Asp)
n.2828G>T
n.2663G>T
n.601-2790C>A
n.475+7933C>A
n.600+6045C>A
3g.193662876G>ACA355793132OPA1c.2575G>A (p.Glu859Lys)
c.2410G>A (p.Glu804Lys)
c.2521G>A (p.Glu841Lys)
c.2464G>A (p.Glu822Lys)
c.2349G>A
c.*635G>A (n.*635G>A)
c.2092G>A (p.Glu698Lys)
c.*2491G>A (n.*2491G>A)
c.1997G>A
c.*894G>A (n.*894G>A)
c.2404G>A
c.2425G>A (p.Glu809Lys)
c.*1888G>A (n.*1888G>A)
c.*1011G>A (n.*1011G>A)
c.1398G>A
c.2302G>A (p.Glu768Lys)
c.2413G>A (p.Glu805Lys)
c.2467G>A (p.Glu823Lys)
c.2356G>A (p.Glu786Lys)
n.582+6044C>T
c.2041G>A (p.Glu681Lys)
c.2038G>A (p.Glu680Lys)
n.2829G>A
n.2664G>A
n.601-2791C>T
n.475+7932C>T
n.600+6044C>T
3g.193662876G>CCA355793130OPA1c.2575G>C (p.Glu859Gln)
c.2410G>C (p.Glu804Gln)
c.2521G>C (p.Glu841Gln)
c.2464G>C (p.Glu822Gln)
c.2349G>C
c.*635G>C (n.*635G>C)
c.2092G>C (p.Glu698Gln)
c.*2491G>C (n.*2491G>C)
c.1997G>C
c.*894G>C (n.*894G>C)
c.2404G>C
c.2425G>C (p.Glu809Gln)
c.*1888G>C (n.*1888G>C)
c.*1011G>C (n.*1011G>C)
c.1398G>C
c.2302G>C (p.Glu768Gln)
c.2413G>C (p.Glu805Gln)
c.2467G>C (p.Glu823Gln)
c.2356G>C (p.Glu786Gln)
n.582+6044C>G
c.2041G>C (p.Glu681Gln)
c.2038G>C (p.Glu680Gln)
n.2829G>C
n.2664G>C
n.601-2791C>G
n.475+7932C>G
n.600+6044C>G
3g.193662876G>TCA355793131OPA1c.2575G>T (p.Glu859Ter)
c.2410G>T (p.Glu804Ter)
c.2521G>T (p.Glu841Ter)
c.2464G>T (p.Glu822Ter)
c.2349G>T
c.*635G>T (n.*635G>T)
c.2092G>T (p.Glu698Ter)
c.*2491G>T (n.*2491G>T)
c.1997G>T
c.*894G>T (n.*894G>T)
c.2404G>T
c.2425G>T (p.Glu809Ter)
c.*1888G>T (n.*1888G>T)
c.*1011G>T (n.*1011G>T)
c.1398G>T
c.2302G>T (p.Glu768Ter)
c.2413G>T (p.Glu805Ter)
c.2467G>T (p.Glu823Ter)
c.2356G>T (p.Glu786Ter)
n.582+6044C>A
c.2041G>T (p.Glu681Ter)
c.2038G>T (p.Glu680Ter)
n.2829G>T
n.2664G>T
n.601-2791C>A
n.475+7932C>A
n.600+6044C>A
3g.193662877A>CCA355793133OPA1c.2576A>C (p.Glu859Ala)
c.2411A>C (p.Glu804Ala)
c.2522A>C (p.Glu841Ala)
c.2465A>C (p.Glu822Ala)
c.2350A>C
c.*636A>C (n.*636A>C)
c.2093A>C (p.Glu698Ala)
c.*2492A>C (n.*2492A>C)
c.1998A>C
c.*895A>C (n.*895A>C)
c.2405A>C
c.2426A>C (p.Glu809Ala)
c.*1889A>C (n.*1889A>C)
c.*1012A>C (n.*1012A>C)
c.1399A>C
c.2303A>C (p.Glu768Ala)
c.2414A>C (p.Glu805Ala)
c.2468A>C (p.Glu823Ala)
c.2357A>C (p.Glu786Ala)
n.582+6043T>G
c.2042A>C (p.Glu681Ala)
c.2039A>C (p.Glu680Ala)
n.2830A>C
n.2665A>C
n.601-2792T>G
n.475+7931T>G
n.600+6043T>G
3g.193662877A>GCA355793134OPA1c.2576A>G (p.Glu859Gly)
c.2411A>G (p.Glu804Gly)
c.2522A>G (p.Glu841Gly)
c.2465A>G (p.Glu822Gly)
c.2350A>G
c.*636A>G (n.*636A>G)
c.2093A>G (p.Glu698Gly)
c.*2492A>G (n.*2492A>G)
c.1998A>G
c.*895A>G (n.*895A>G)
c.2405A>G
c.2426A>G (p.Glu809Gly)
c.*1889A>G (n.*1889A>G)
c.*1012A>G (n.*1012A>G)
c.1399A>G
c.2303A>G (p.Glu768Gly)
c.2414A>G (p.Glu805Gly)
c.2468A>G (p.Glu823Gly)
c.2357A>G (p.Glu786Gly)
n.582+6043T>C
c.2042A>G (p.Glu681Gly)
c.2039A>G (p.Glu680Gly)
n.2830A>G
n.2665A>G
n.601-2792T>C
n.475+7931T>C
n.600+6043T>C
3g.193662877A>TCA355793135OPA1c.2576A>T (p.Glu859Val)
c.2411A>T (p.Glu804Val)
c.2522A>T (p.Glu841Val)
c.2465A>T (p.Glu822Val)
c.2350A>T
c.*636A>T (n.*636A>T)
c.2093A>T (p.Glu698Val)
c.*2492A>T (n.*2492A>T)
c.1998A>T
c.*895A>T (n.*895A>T)
c.2405A>T
c.2426A>T (p.Glu809Val)
c.*1889A>T (n.*1889A>T)
c.*1012A>T (n.*1012A>T)
c.1399A>T
c.2303A>T (p.Glu768Val)
c.2414A>T (p.Glu805Val)
c.2468A>T (p.Glu823Val)
c.2357A>T (p.Glu786Val)
n.582+6043T>A
c.2042A>T (p.Glu681Val)
c.2039A>T (p.Glu680Val)
n.2830A>T
n.2665A>T
n.601-2792T>A
n.475+7931T>A
n.600+6043T>A
3g.193662878G>ACA2759699OPA1c.2577G>A (p.Glu859=)
c.2412G>A (p.Glu804=)
c.2523G>A (p.Glu841=)
c.2466G>A (p.Glu822=)
c.2351G>A
c.*637G>A (n.*637G>A)
c.2094G>A (p.Glu698=)
c.*2493G>A (n.*2493G>A)
c.1999G>A
c.*896G>A (n.*896G>A)
c.2406G>A
c.2427G>A (p.Glu809=)
c.*1890G>A (n.*1890G>A)
c.*1013G>A (n.*1013G>A)
c.1400G>A
c.2304G>A (p.Glu768=)
c.2415G>A (p.Glu805=)
c.2469G>A (p.Glu823=)
c.2358G>A (p.Glu786=)
n.582+6042C>T
c.2043G>A (p.Glu681=)
c.2040G>A (p.Glu680=)
n.2831G>A
n.2666G>A
n.601-2793C>T
n.475+7930C>T
n.600+6042C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.193662878G>CCA355793136OPA1c.2577G>C (p.Glu859Asp)
c.2412G>C (p.Glu804Asp)
c.2523G>C (p.Glu841Asp)
c.2466G>C (p.Glu822Asp)
c.2351G>C
c.*637G>C (n.*637G>C)
c.2094G>C (p.Glu698Asp)
c.*2493G>C (n.*2493G>C)
c.1999G>C
c.*896G>C (n.*896G>C)
c.2406G>C
c.2427G>C (p.Glu809Asp)
c.*1890G>C (n.*1890G>C)
c.*1013G>C (n.*1013G>C)
c.1400G>C
c.2304G>C (p.Glu768Asp)
c.2415G>C (p.Glu805Asp)
c.2469G>C (p.Glu823Asp)
c.2358G>C (p.Glu786Asp)
n.582+6042C>G
c.2043G>C (p.Glu681Asp)
c.2040G>C (p.Glu680Asp)
n.2831G>C
n.2666G>C
n.601-2793C>G
n.475+7930C>G
n.600+6042C>G
3g.193662878G=CA1430270645OPA1c.2577G= (p.Glu859=)
c.2412G= (p.Glu804=)
c.2523G= (p.Glu841=)
c.2466G= (p.Glu822=)
c.2351G=
c.*637G= (n.*637G=)
c.2094G= (p.Glu698=)
c.*2493G= (n.*2493G=)
c.1999G=
c.*896G= (n.*896G=)
c.2406G=
c.2427G= (p.Glu809=)
c.*1890G= (n.*1890G=)
c.*1013G= (n.*1013G=)
c.1400G=
c.2304G= (p.Glu768=)
c.2415G= (p.Glu805=)
c.2469G= (p.Glu823=)
c.2358G= (p.Glu786=)
n.582+6042C=
c.2043G= (p.Glu681=)
c.2040G= (p.Glu680=)
n.2831G=
n.2666G=
n.601-2793C=
n.475+7930C=
n.600+6042C=
3g.193662878G>TCA355793137OPA1c.2577G>T (p.Glu859Asp)
c.2412G>T (p.Glu804Asp)
c.2523G>T (p.Glu841Asp)
c.2466G>T (p.Glu822Asp)
c.2351G>T
c.*637G>T (n.*637G>T)
c.2094G>T (p.Glu698Asp)
c.*2493G>T (n.*2493G>T)
c.1999G>T
c.*896G>T (n.*896G>T)
c.2406G>T
c.2427G>T (p.Glu809Asp)
c.*1890G>T (n.*1890G>T)
c.*1013G>T (n.*1013G>T)
c.1400G>T
c.2304G>T (p.Glu768Asp)
c.2415G>T (p.Glu805Asp)
c.2469G>T (p.Glu823Asp)
c.2358G>T (p.Glu786Asp)
n.582+6042C>A
c.2043G>T (p.Glu681Asp)
c.2040G>T (p.Glu680Asp)
n.2831G>T
n.2666G>T
n.601-2793C>A
n.475+7930C>A
n.600+6042C>A
3g.193662879C>ACA355793138OPA1c.2578C>A (p.His860Asn)
c.2413C>A (p.His805Asn)
c.2524C>A (p.His842Asn)
c.2467C>A (p.His823Asn)
c.2352C>A
c.*638C>A (n.*638C>A)
c.2095C>A (p.His699Asn)
c.*2494C>A (n.*2494C>A)
c.2000C>A
c.*897C>A (n.*897C>A)
c.2407C>A
c.2428C>A (p.His810Asn)
c.*1891C>A (n.*1891C>A)
c.*1014C>A (n.*1014C>A)
c.1401C>A
c.2305C>A (p.His769Asn)
c.2416C>A (p.His806Asn)
c.2470C>A (p.His824Asn)
c.2359C>A (p.His787Asn)
n.582+6041G>T
c.2044C>A (p.His682Asn)
c.2041C>A (p.His681Asn)
n.2832C>A
n.2667C>A
n.601-2794G>T
n.475+7929G>T
n.600+6041G>T
3g.193662879C>GCA355793139OPA1c.2578C>G (p.His860Asp)
c.2413C>G (p.His805Asp)
c.2524C>G (p.His842Asp)
c.2467C>G (p.His823Asp)
c.2352C>G
c.*638C>G (n.*638C>G)
c.2095C>G (p.His699Asp)
c.*2494C>G (n.*2494C>G)
c.2000C>G
c.*897C>G (n.*897C>G)
c.2407C>G
c.2428C>G (p.His810Asp)
c.*1891C>G (n.*1891C>G)
c.*1014C>G (n.*1014C>G)
c.1401C>G
c.2305C>G (p.His769Asp)
c.2416C>G (p.His806Asp)
c.2470C>G (p.His824Asp)
c.2359C>G (p.His787Asp)
n.582+6041G>C
c.2044C>G (p.His682Asp)
c.2041C>G (p.His681Asp)
n.2832C>G
n.2667C>G
n.601-2794G>C
n.475+7929G>C
n.600+6041G>C
3g.193662879C>TCA355793140OPA1c.2578C>T (p.His860Tyr)
c.2413C>T (p.His805Tyr)
c.2524C>T (p.His842Tyr)
c.2467C>T (p.His823Tyr)
c.2352C>T
c.*638C>T (n.*638C>T)
c.2095C>T (p.His699Tyr)
c.*2494C>T (n.*2494C>T)
c.2000C>T
c.*897C>T (n.*897C>T)
c.2407C>T
c.2428C>T (p.His810Tyr)
c.*1891C>T (n.*1891C>T)
c.*1014C>T (n.*1014C>T)
c.1401C>T
c.2305C>T (p.His769Tyr)
c.2416C>T (p.His806Tyr)
c.2470C>T (p.His824Tyr)
c.2359C>T (p.His787Tyr)
n.582+6041G>A
c.2044C>T (p.His682Tyr)
c.2041C>T (p.His681Tyr)
n.2832C>T
n.2667C>T
n.601-2794G>A
n.475+7929G>A
n.600+6041G>A
3g.193662880A>CCA355793141OPA1c.2579A>C (p.His860Pro)
c.2414A>C (p.His805Pro)
c.2525A>C (p.His842Pro)
c.2468A>C (p.His823Pro)
c.2353A>C
c.*639A>C (n.*639A>C)
c.2096A>C (p.His699Pro)
c.*2495A>C (n.*2495A>C)
c.2001A>C
c.*898A>C (n.*898A>C)
c.2408A>C
c.2429A>C (p.His810Pro)
c.*1892A>C (n.*1892A>C)
c.*1015A>C (n.*1015A>C)
c.1402A>C
c.2306A>C (p.His769Pro)
c.2417A>C (p.His806Pro)
c.2471A>C (p.His824Pro)
c.2360A>C (p.His787Pro)
n.582+6040T>G
c.2045A>C (p.His682Pro)
c.2042A>C (p.His681Pro)
n.2833A>C
n.2668A>C
n.601-2795T>G
n.475+7928T>G
n.600+6040T>G
3g.193662880A>GCA355793142OPA1c.2579A>G (p.His860Arg)
c.2414A>G (p.His805Arg)
c.2525A>G (p.His842Arg)
c.2468A>G (p.His823Arg)
c.2353A>G
c.*639A>G (n.*639A>G)
c.2096A>G (p.His699Arg)
c.*2495A>G (n.*2495A>G)
c.2001A>G
c.*898A>G (n.*898A>G)
c.2408A>G
c.2429A>G (p.His810Arg)
c.*1892A>G (n.*1892A>G)
c.*1015A>G (n.*1015A>G)
c.1402A>G
c.2306A>G (p.His769Arg)
c.2417A>G (p.His806Arg)
c.2471A>G (p.His824Arg)
c.2360A>G (p.His787Arg)
n.582+6040T>C
c.2045A>G (p.His682Arg)
c.2042A>G (p.His681Arg)
n.2833A>G
n.2668A>G
n.601-2795T>C
n.475+7928T>C
n.600+6040T>C
 COSMIC
3g.193662880A>TCA355793143OPA1c.2579A>T (p.His860Leu)
c.2414A>T (p.His805Leu)
c.2525A>T (p.His842Leu)
c.2468A>T (p.His823Leu)
c.2353A>T
c.*639A>T (n.*639A>T)
c.2096A>T (p.His699Leu)
c.*2495A>T (n.*2495A>T)
c.2001A>T
c.*898A>T (n.*898A>T)
c.2408A>T
c.2429A>T (p.His810Leu)
c.*1892A>T (n.*1892A>T)
c.*1015A>T (n.*1015A>T)
c.1402A>T
c.2306A>T (p.His769Leu)
c.2417A>T (p.His806Leu)
c.2471A>T (p.His824Leu)
c.2360A>T (p.His787Leu)
n.582+6040T>A
c.2045A>T (p.His682Leu)
c.2042A>T (p.His681Leu)
n.2833A>T
n.2668A>T
n.601-2795T>A
n.475+7928T>A
n.600+6040T>A
3g.193662881C>ACA355793145OPA1c.2580C>A (p.His860Gln)
c.2415C>A (p.His805Gln)
c.2526C>A (p.His842Gln)
c.2469C>A (p.His823Gln)
c.2354C>A
c.*640C>A (n.*640C>A)
c.2097C>A (p.His699Gln)
c.*2496C>A (n.*2496C>A)
c.2002C>A
c.*899C>A (n.*899C>A)
c.2409C>A
c.2430C>A (p.His810Gln)
c.*1893C>A (n.*1893C>A)
c.*1016C>A (n.*1016C>A)
c.1403C>A
c.2307C>A (p.His769Gln)
c.2418C>A (p.His806Gln)
c.2472C>A (p.His824Gln)
c.2361C>A (p.His787Gln)
n.582+6039G>T
c.2046C>A (p.His682Gln)
c.2043C>A (p.His681Gln)
n.2834C>A
n.2669C>A
n.601-2796G>T
n.475+7927G>T
n.600+6039G>T
3g.193662881C>GCA355793144OPA1c.2580C>G (p.His860Gln)
c.2415C>G (p.His805Gln)
c.2526C>G (p.His842Gln)
c.2469C>G (p.His823Gln)
c.2354C>G
c.*640C>G (n.*640C>G)
c.2097C>G (p.His699Gln)
c.*2496C>G (n.*2496C>G)
c.2002C>G
c.*899C>G (n.*899C>G)
c.2409C>G
c.2430C>G (p.His810Gln)
c.*1893C>G (n.*1893C>G)
c.*1016C>G (n.*1016C>G)
c.1403C>G
c.2307C>G (p.His769Gln)
c.2418C>G (p.His806Gln)
c.2472C>G (p.His824Gln)
c.2361C>G (p.His787Gln)
n.582+6039G>C
c.2046C>G (p.His682Gln)
c.2043C>G (p.His681Gln)
n.2834C>G
n.2669C>G
n.601-2796G>C
n.475+7927G>C
n.600+6039G>C
3g.193662881C>TCA437441579OPA1c.2580C>T (p.His860=)
c.2415C>T (p.His805=)
c.2526C>T (p.His842=)
c.2469C>T (p.His823=)
c.2354C>T
c.*640C>T (n.*640C>T)
c.2097C>T (p.His699=)
c.*2496C>T (n.*2496C>T)
c.2002C>T
c.*899C>T (n.*899C>T)
c.2409C>T
c.2430C>T (p.His810=)
c.*1893C>T (n.*1893C>T)
c.*1016C>T (n.*1016C>T)
c.1403C>T
c.2307C>T (p.His769=)
c.2418C>T (p.His806=)
c.2472C>T (p.His824=)
c.2361C>T (p.His787=)
n.582+6039G>A
c.2046C>T (p.His682=)
c.2043C>T (p.His681=)
n.2834C>T
n.2669C>T
n.601-2796G>A
n.475+7927G>A
n.600+6039G>A
3g.193662882C>ACA355793146OPA1c.2581C>A (p.Pro861Thr)
c.2416C>A (p.Pro806Thr)
c.2527C>A (p.Pro843Thr)
c.2470C>A (p.Pro824Thr)
c.2355C>A
c.*641C>A (n.*641C>A)
c.2098C>A (p.Pro700Thr)
c.*2497C>A (n.*2497C>A)
c.2003C>A
c.*900C>A (n.*900C>A)
c.2410C>A
c.2431C>A (p.Pro811Thr)
c.*1894C>A (n.*1894C>A)
c.*1017C>A (n.*1017C>A)
c.1404C>A
c.2308C>A (p.Pro770Thr)
c.2419C>A (p.Pro807Thr)
c.2473C>A (p.Pro825Thr)
c.2362C>A (p.Pro788Thr)
n.582+6038G>T
c.2047C>A (p.Pro683Thr)
c.2044C>A (p.Pro682Thr)
n.2835C>A
n.2670C>A
n.601-2797G>T
n.475+7926G>T
n.600+6038G>T
 COSMIC
3g.193662882C>GCA355793147OPA1c.2581C>G (p.Pro861Ala)
c.2416C>G (p.Pro806Ala)
c.2527C>G (p.Pro843Ala)
c.2470C>G (p.Pro824Ala)
c.2355C>G
c.*641C>G (n.*641C>G)
c.2098C>G (p.Pro700Ala)
c.*2497C>G (n.*2497C>G)
c.2003C>G
c.*900C>G (n.*900C>G)
c.2410C>G
c.2431C>G (p.Pro811Ala)
c.*1894C>G (n.*1894C>G)
c.*1017C>G (n.*1017C>G)
c.1404C>G
c.2308C>G (p.Pro770Ala)
c.2419C>G (p.Pro807Ala)
c.2473C>G (p.Pro825Ala)
c.2362C>G (p.Pro788Ala)
n.582+6038G>C
c.2047C>G (p.Pro683Ala)
c.2044C>G (p.Pro682Ala)
n.2835C>G
n.2670C>G
n.601-2797G>C
n.475+7926G>C
n.600+6038G>C
 ClinVar
3g.193662882C>TCA355793148OPA1c.2581C>T (p.Pro861Ser)
c.2416C>T (p.Pro806Ser)
c.2527C>T (p.Pro843Ser)
c.2470C>T (p.Pro824Ser)
c.2355C>T
c.*641C>T (n.*641C>T)
c.2098C>T (p.Pro700Ser)
c.*2497C>T (n.*2497C>T)
c.2003C>T
c.*900C>T (n.*900C>T)
c.2410C>T
c.2431C>T (p.Pro811Ser)
c.*1894C>T (n.*1894C>T)
c.*1017C>T (n.*1017C>T)
c.1404C>T
c.2308C>T (p.Pro770Ser)
c.2419C>T (p.Pro807Ser)
c.2473C>T (p.Pro825Ser)
c.2362C>T (p.Pro788Ser)
n.582+6038G>A
c.2047C>T (p.Pro683Ser)
c.2044C>T (p.Pro682Ser)
n.2835C>T
n.2670C>T
n.601-2797G>A
n.475+7926G>A
n.600+6038G>A
3g.193662883C>ACA355793149OPA1c.2582C>A (p.Pro861Gln)
c.2417C>A (p.Pro806Gln)
c.2528C>A (p.Pro843Gln)
c.2471C>A (p.Pro824Gln)
c.2356C>A
c.*642C>A (n.*642C>A)
c.2099C>A (p.Pro700Gln)
c.*2498C>A (n.*2498C>A)
c.2004C>A
c.*901C>A (n.*901C>A)
c.2411C>A
c.2432C>A (p.Pro811Gln)
c.*1895C>A (n.*1895C>A)
c.*1018C>A (n.*1018C>A)
c.1405C>A
c.2309C>A (p.Pro770Gln)
c.2420C>A (p.Pro807Gln)
c.2474C>A (p.Pro825Gln)
c.2363C>A (p.Pro788Gln)
n.582+6037G>T
c.2048C>A (p.Pro683Gln)
c.2045C>A (p.Pro682Gln)
n.2836C>A
n.2671C>A
n.601-2798G>T
n.475+7925G>T
n.600+6037G>T
3g.193662883C=CA1430270649OPA1c.2582C= (p.Pro861=)
c.2417C= (p.Pro806=)
c.2528C= (p.Pro843=)
c.2471C= (p.Pro824=)
c.2356C=
c.*642C= (n.*642C=)
c.2099C= (p.Pro700=)
c.*2498C= (n.*2498C=)
c.2004C=
c.*901C= (n.*901C=)
c.2411C=
c.2432C= (p.Pro811=)
c.*1895C= (n.*1895C=)
c.*1018C= (n.*1018C=)
c.1405C=
c.2309C= (p.Pro770=)
c.2420C= (p.Pro807=)
c.2474C= (p.Pro825=)
c.2363C= (p.Pro788=)
n.582+6037G=
c.2048C= (p.Pro683=)
c.2045C= (p.Pro682=)
n.2836C=
n.2671C=
n.601-2798G=
n.475+7925G=
n.600+6037G=
3g.193662883C>GCA355793150OPA1c.2582C>G (p.Pro861Arg)
c.2417C>G (p.Pro806Arg)
c.2528C>G (p.Pro843Arg)
c.2471C>G (p.Pro824Arg)
c.2356C>G
c.*642C>G (n.*642C>G)
c.2099C>G (p.Pro700Arg)
c.*2498C>G (n.*2498C>G)
c.2004C>G
c.*901C>G (n.*901C>G)
c.2411C>G
c.2432C>G (p.Pro811Arg)
c.*1895C>G (n.*1895C>G)
c.*1018C>G (n.*1018C>G)
c.1405C>G
c.2309C>G (p.Pro770Arg)
c.2420C>G (p.Pro807Arg)
c.2474C>G (p.Pro825Arg)
c.2363C>G (p.Pro788Arg)
n.582+6037G>C
c.2048C>G (p.Pro683Arg)
c.2045C>G (p.Pro682Arg)
n.2836C>G
n.2671C>G
n.601-2798G>C
n.475+7925G>C
n.600+6037G>C
3g.193662883C>TCA355793151OPA1c.2582C>T (p.Pro861Leu)
c.2417C>T (p.Pro806Leu)
c.2528C>T (p.Pro843Leu)
c.2471C>T (p.Pro824Leu)
c.2356C>T
c.*642C>T (n.*642C>T)
c.2099C>T (p.Pro700Leu)
c.*2498C>T (n.*2498C>T)
c.2004C>T
c.*901C>T (n.*901C>T)
c.2411C>T
c.2432C>T (p.Pro811Leu)
c.*1895C>T (n.*1895C>T)
c.*1018C>T (n.*1018C>T)
c.1405C>T
c.2309C>T (p.Pro770Leu)
c.2420C>T (p.Pro807Leu)
c.2474C>T (p.Pro825Leu)
c.2363C>T (p.Pro788Leu)
n.582+6037G>A
c.2048C>T (p.Pro683Leu)
c.2045C>T (p.Pro682Leu)
n.2836C>T
n.2671C>T
n.601-2798G>A
n.475+7925G>A
n.600+6037G>A
 dbSNP
3g.193662884A>CCA437441580OPA1c.2583A>C (p.Pro861=)
c.2418A>C (p.Pro806=)
c.2529A>C (p.Pro843=)
c.2472A>C (p.Pro824=)
c.2357A>C
c.*643A>C (n.*643A>C)
c.2100A>C (p.Pro700=)
c.*2499A>C (n.*2499A>C)
c.2005A>C
c.*902A>C (n.*902A>C)
c.2412A>C
c.2433A>C (p.Pro811=)
c.*1896A>C (n.*1896A>C)
c.*1019A>C (n.*1019A>C)
c.1406A>C
c.2310A>C (p.Pro770=)
c.2421A>C (p.Pro807=)
c.2475A>C (p.Pro825=)
c.2364A>C (p.Pro788=)
n.582+6036T>G
c.2049A>C (p.Pro683=)
c.2046A>C (p.Pro682=)
n.2837A>C
n.2672A>C
n.601-2799T>G
n.475+7924T>G
n.600+6036T>G
3g.193662884A>GCA437441581OPA1c.2583A>G (p.Pro861=)
c.2418A>G (p.Pro806=)
c.2529A>G (p.Pro843=)
c.2472A>G (p.Pro824=)
c.2357A>G
c.*643A>G (n.*643A>G)
c.2100A>G (p.Pro700=)
c.*2499A>G (n.*2499A>G)
c.2005A>G
c.*902A>G (n.*902A>G)
c.2412A>G
c.2433A>G (p.Pro811=)
c.*1896A>G (n.*1896A>G)
c.*1019A>G (n.*1019A>G)
c.1406A>G
c.2310A>G (p.Pro770=)
c.2421A>G (p.Pro807=)
c.2475A>G (p.Pro825=)
c.2364A>G (p.Pro788=)
n.582+6036T>C
c.2049A>G (p.Pro683=)
c.2046A>G (p.Pro682=)
n.2837A>G
n.2672A>G
n.601-2799T>C
n.475+7924T>C
n.600+6036T>C
3g.193662884A>TCA437441582OPA1c.2583A>T (p.Pro861=)
c.2418A>T (p.Pro806=)
c.2529A>T (p.Pro843=)
c.2472A>T (p.Pro824=)
c.2357A>T
c.*643A>T (n.*643A>T)
c.2100A>T (p.Pro700=)
c.*2499A>T (n.*2499A>T)
c.2005A>T
c.*902A>T (n.*902A>T)
c.2412A>T
c.2433A>T (p.Pro811=)
c.*1896A>T (n.*1896A>T)
c.*1019A>T (n.*1019A>T)
c.1406A>T
c.2310A>T (p.Pro770=)
c.2421A>T (p.Pro807=)
c.2475A>T (p.Pro825=)
c.2364A>T (p.Pro788=)
n.582+6036T>A
c.2049A>T (p.Pro683=)
c.2046A>T (p.Pro682=)
n.2837A>T
n.2672A>T
n.601-2799T>A
n.475+7924T>A
n.600+6036T>A
3g.193662885G>ACA355793154OPA1c.2584G>A (p.Ala862Thr)
c.2419G>A (p.Ala807Thr)
c.2530G>A (p.Ala844Thr)
c.2473G>A (p.Ala825Thr)
c.2358G>A
c.*644G>A (n.*644G>A)
c.2101G>A (p.Ala701Thr)
c.*2500G>A (n.*2500G>A)
c.2006G>A
c.*903G>A (n.*903G>A)
c.2413G>A
c.2434G>A (p.Ala812Thr)
c.*1897G>A (n.*1897G>A)
c.*1020G>A (n.*1020G>A)
c.1407G>A
c.2311G>A (p.Ala771Thr)
c.2422G>A (p.Ala808Thr)
c.2476G>A (p.Ala826Thr)
c.2365G>A (p.Ala789Thr)
n.582+6035C>T
c.2050G>A (p.Ala684Thr)
c.2047G>A (p.Ala683Thr)
n.2838G>A
n.2673G>A
n.601-2800C>T
n.475+7923C>T
n.600+6035C>T
 gnomAD v4
3g.193662885G>CCA355793153OPA1c.2584G>C (p.Ala862Pro)
c.2419G>C (p.Ala807Pro)
c.2530G>C (p.Ala844Pro)
c.2473G>C (p.Ala825Pro)
c.2358G>C
c.*644G>C (n.*644G>C)
c.2101G>C (p.Ala701Pro)
c.*2500G>C (n.*2500G>C)
c.2006G>C
c.*903G>C (n.*903G>C)
c.2413G>C
c.2434G>C (p.Ala812Pro)
c.*1897G>C (n.*1897G>C)
c.*1020G>C (n.*1020G>C)
c.1407G>C
c.2311G>C (p.Ala771Pro)
c.2422G>C (p.Ala808Pro)
c.2476G>C (p.Ala826Pro)
c.2365G>C (p.Ala789Pro)
n.582+6035C>G
c.2050G>C (p.Ala684Pro)
c.2047G>C (p.Ala683Pro)
n.2838G>C
n.2673G>C
n.601-2800C>G
n.475+7923C>G
n.600+6035C>G
3g.193662885G>TCA355793152OPA1c.2584G>T (p.Ala862Ser)
c.2419G>T (p.Ala807Ser)
c.2530G>T (p.Ala844Ser)
c.2473G>T (p.Ala825Ser)
c.2358G>T
c.*644G>T (n.*644G>T)
c.2101G>T (p.Ala701Ser)
c.*2500G>T (n.*2500G>T)
c.2006G>T
c.*903G>T (n.*903G>T)
c.2413G>T
c.2434G>T (p.Ala812Ser)
c.*1897G>T (n.*1897G>T)
c.*1020G>T (n.*1020G>T)
c.1407G>T
c.2311G>T (p.Ala771Ser)
c.2422G>T (p.Ala808Ser)
c.2476G>T (p.Ala826Ser)
c.2365G>T (p.Ala789Ser)
n.582+6035C>A
c.2050G>T (p.Ala684Ser)
c.2047G>T (p.Ala683Ser)
n.2838G>T
n.2673G>T
n.601-2800C>A
n.475+7923C>A
n.600+6035C>A
3g.193662886C>ACA355793155OPA1c.2585C>A (p.Ala862Asp)
c.2420C>A (p.Ala807Asp)
c.2531C>A (p.Ala844Asp)
c.2474C>A (p.Ala825Asp)
c.2359C>A
c.*645C>A (n.*645C>A)
c.2102C>A (p.Ala701Asp)
c.*2501C>A (n.*2501C>A)
c.2007C>A
c.*904C>A (n.*904C>A)
c.2414C>A
c.2435C>A (p.Ala812Asp)
c.*1898C>A (n.*1898C>A)
c.*1021C>A (n.*1021C>A)
c.1408C>A
c.2312C>A (p.Ala771Asp)
c.2423C>A (p.Ala808Asp)
c.2477C>A (p.Ala826Asp)
c.2366C>A (p.Ala789Asp)
n.582+6034G>T
c.2051C>A (p.Ala684Asp)
c.2048C>A (p.Ala683Asp)
n.2839C>A
n.2674C>A
n.601-2801G>T
n.475+7922G>T
n.600+6034G>T
3g.193662886C>GCA355793156OPA1c.2585C>G (p.Ala862Gly)
c.2420C>G (p.Ala807Gly)
c.2531C>G (p.Ala844Gly)
c.2474C>G (p.Ala825Gly)
c.2359C>G
c.*645C>G (n.*645C>G)
c.2102C>G (p.Ala701Gly)
c.*2501C>G (n.*2501C>G)
c.2007C>G
c.*904C>G (n.*904C>G)
c.2414C>G
c.2435C>G (p.Ala812Gly)
c.*1898C>G (n.*1898C>G)
c.*1021C>G (n.*1021C>G)
c.1408C>G
c.2312C>G (p.Ala771Gly)
c.2423C>G (p.Ala808Gly)
c.2477C>G (p.Ala826Gly)
c.2366C>G (p.Ala789Gly)
n.582+6034G>C
c.2051C>G (p.Ala684Gly)
c.2048C>G (p.Ala683Gly)
n.2839C>G
n.2674C>G
n.601-2801G>C
n.475+7922G>C
n.600+6034G>C
3g.193662886C>TCA355793157OPA1c.2585C>T (p.Ala862Val)
c.2420C>T (p.Ala807Val)
c.2531C>T (p.Ala844Val)
c.2474C>T (p.Ala825Val)
c.2359C>T
c.*645C>T (n.*645C>T)
c.2102C>T (p.Ala701Val)
c.*2501C>T (n.*2501C>T)
c.2007C>T
c.*904C>T (n.*904C>T)
c.2414C>T
c.2435C>T (p.Ala812Val)
c.*1898C>T (n.*1898C>T)
c.*1021C>T (n.*1021C>T)
c.1408C>T
c.2312C>T (p.Ala771Val)
c.2423C>T (p.Ala808Val)
c.2477C>T (p.Ala826Val)
c.2366C>T (p.Ala789Val)
n.582+6034G>A
c.2051C>T (p.Ala684Val)
c.2048C>T (p.Ala683Val)
n.2839C>T
n.2674C>T
n.601-2801G>A
n.475+7922G>A
n.600+6034G>A
3g.193662887T>ACA437441583OPA1c.2586T>A (p.Ala862=)
c.2421T>A (p.Ala807=)
c.2532T>A (p.Ala844=)
c.2475T>A (p.Ala825=)
c.2360T>A
c.*646T>A (n.*646T>A)
c.2103T>A (p.Ala701=)
c.*2502T>A (n.*2502T>A)
c.2008T>A
c.*905T>A (n.*905T>A)
c.2415T>A
c.2436T>A (p.Ala812=)
c.*1899T>A (n.*1899T>A)
c.*1022T>A (n.*1022T>A)
c.1409T>A
c.2313T>A (p.Ala771=)
c.2424T>A (p.Ala808=)
c.2478T>A (p.Ala826=)
c.2367T>A (p.Ala789=)
n.582+6033A>T
c.2052T>A (p.Ala684=)
c.2049T>A (p.Ala683=)
n.2840T>A
n.2675T>A
n.601-2802A>T
n.475+7921A>T
n.600+6033A>T
3g.193662887T>CCA437441584OPA1c.2586T>C (p.Ala862=)
c.2421T>C (p.Ala807=)
c.2532T>C (p.Ala844=)
c.2475T>C (p.Ala825=)
c.2360T>C
c.*646T>C (n.*646T>C)
c.2103T>C (p.Ala701=)
c.*2502T>C (n.*2502T>C)
c.2008T>C
c.*905T>C (n.*905T>C)
c.2415T>C
c.2436T>C (p.Ala812=)
c.*1899T>C (n.*1899T>C)
c.*1022T>C (n.*1022T>C)
c.1409T>C
c.2313T>C (p.Ala771=)
c.2424T>C (p.Ala808=)
c.2478T>C (p.Ala826=)
c.2367T>C (p.Ala789=)
n.582+6033A>G
c.2052T>C (p.Ala684=)
c.2049T>C (p.Ala683=)
n.2840T>C
n.2675T>C
n.601-2802A>G
n.475+7921A>G
n.600+6033A>G
3g.193662887T>GCA437441585OPA1c.2586T>G (p.Ala862=)
c.2421T>G (p.Ala807=)
c.2532T>G (p.Ala844=)
c.2475T>G (p.Ala825=)
c.2360T>G
c.*646T>G (n.*646T>G)
c.2103T>G (p.Ala701=)
c.*2502T>G (n.*2502T>G)
c.2008T>G
c.*905T>G (n.*905T>G)
c.2415T>G
c.2436T>G (p.Ala812=)
c.*1899T>G (n.*1899T>G)
c.*1022T>G (n.*1022T>G)
c.1409T>G
c.2313T>G (p.Ala771=)
c.2424T>G (p.Ala808=)
c.2478T>G (p.Ala826=)
c.2367T>G (p.Ala789=)
n.582+6033A>C
c.2052T>G (p.Ala684=)
c.2049T>G (p.Ala683=)
n.2840T>G
n.2675T>G
n.601-2802A>C
n.475+7921A>C
n.600+6033A>C
3g.193662888T>ACA355793158OPA1c.2587T>A (p.Tyr863Asn)
c.2422T>A (p.Tyr808Asn)
c.2533T>A (p.Tyr845Asn)
c.2476T>A (p.Tyr826Asn)
c.2361T>A
c.*647T>A (n.*647T>A)
c.2104T>A (p.Tyr702Asn)
c.*2503T>A (n.*2503T>A)
c.2009T>A
c.*906T>A (n.*906T>A)
c.2416T>A
c.2437T>A (p.Tyr813Asn)
c.*1900T>A (n.*1900T>A)
c.*1023T>A (n.*1023T>A)
c.1410T>A
c.2314T>A (p.Tyr772Asn)
c.2425T>A (p.Tyr809Asn)
c.2479T>A (p.Tyr827Asn)
c.2368T>A (p.Tyr790Asn)
n.582+6032A>T
c.2053T>A (p.Tyr685Asn)
c.2050T>A (p.Tyr684Asn)
n.2841T>A
n.2676T>A
n.601-2803A>T
n.475+7920A>T
n.600+6032A>T
3g.193662888T>CCA355793159OPA1c.2587T>C (p.Tyr863His)
c.2422T>C (p.Tyr808His)
c.2533T>C (p.Tyr845His)
c.2476T>C (p.Tyr826His)
c.2361T>C
c.*647T>C (n.*647T>C)
c.2104T>C (p.Tyr702His)
c.*2503T>C (n.*2503T>C)
c.2009T>C
c.*906T>C (n.*906T>C)
c.2416T>C
c.2437T>C (p.Tyr813His)
c.*1900T>C (n.*1900T>C)
c.*1023T>C (n.*1023T>C)
c.1410T>C
c.2314T>C (p.Tyr772His)
c.2425T>C (p.Tyr809His)
c.2479T>C (p.Tyr827His)
c.2368T>C (p.Tyr790His)
n.582+6032A>G
c.2053T>C (p.Tyr685His)
c.2050T>C (p.Tyr684His)
n.2841T>C
n.2676T>C
n.601-2803A>G
n.475+7920A>G
n.600+6032A>G
3g.193662888T>GCA355793160OPA1c.2587T>G (p.Tyr863Asp)
c.2422T>G (p.Tyr808Asp)
c.2533T>G (p.Tyr845Asp)
c.2476T>G (p.Tyr826Asp)
c.2361T>G
c.*647T>G (n.*647T>G)
c.2104T>G (p.Tyr702Asp)
c.*2503T>G (n.*2503T>G)
c.2009T>G
c.*906T>G (n.*906T>G)
c.2416T>G
c.2437T>G (p.Tyr813Asp)
c.*1900T>G (n.*1900T>G)
c.*1023T>G (n.*1023T>G)
c.1410T>G
c.2314T>G (p.Tyr772Asp)
c.2425T>G (p.Tyr809Asp)
c.2479T>G (p.Tyr827Asp)
c.2368T>G (p.Tyr790Asp)
n.582+6032A>C
c.2053T>G (p.Tyr685Asp)
c.2050T>G (p.Tyr684Asp)
n.2841T>G
n.2676T>G
n.601-2803A>C
n.475+7920A>C
n.600+6032A>C
3g.193662889A>CCA355793161OPA1c.2588A>C (p.Tyr863Ser)
c.2423A>C (p.Tyr808Ser)
c.2534A>C (p.Tyr845Ser)
c.2477A>C (p.Tyr826Ser)
c.2362A>C
c.*648A>C (n.*648A>C)
c.2105A>C (p.Tyr702Ser)
c.*2504A>C (n.*2504A>C)
c.2010A>C
c.*907A>C (n.*907A>C)
c.2417A>C
c.2438A>C (p.Tyr813Ser)
c.*1901A>C (n.*1901A>C)
c.*1024A>C (n.*1024A>C)
c.1411A>C
c.2315A>C (p.Tyr772Ser)
c.2426A>C (p.Tyr809Ser)
c.2480A>C (p.Tyr827Ser)
c.2369A>C (p.Tyr790Ser)
n.582+6031T>G
c.2054A>C (p.Tyr685Ser)
c.2051A>C (p.Tyr684Ser)
n.2842A>C
n.2677A>C
n.601-2804T>G
n.475+7919T>G
n.600+6031T>G
3g.193662889A>GCA355793163OPA1c.2588A>G (p.Tyr863Cys)
c.2423A>G (p.Tyr808Cys)
c.2534A>G (p.Tyr845Cys)
c.2477A>G (p.Tyr826Cys)
c.2362A>G
c.*648A>G (n.*648A>G)
c.2105A>G (p.Tyr702Cys)
c.*2504A>G (n.*2504A>G)
c.2010A>G
c.*907A>G (n.*907A>G)
c.2417A>G
c.2438A>G (p.Tyr813Cys)
c.*1901A>G (n.*1901A>G)
c.*1024A>G (n.*1024A>G)
c.1411A>G
c.2315A>G (p.Tyr772Cys)
c.2426A>G (p.Tyr809Cys)
c.2480A>G (p.Tyr827Cys)
c.2369A>G (p.Tyr790Cys)
n.582+6031T>C
c.2054A>G (p.Tyr685Cys)
c.2051A>G (p.Tyr684Cys)
n.2842A>G
n.2677A>G
n.601-2804T>C
n.475+7919T>C
n.600+6031T>C
3g.193662889A>TCA355793162OPA1c.2588A>T (p.Tyr863Phe)
c.2423A>T (p.Tyr808Phe)
c.2534A>T (p.Tyr845Phe)
c.2477A>T (p.Tyr826Phe)
c.2362A>T
c.*648A>T (n.*648A>T)
c.2105A>T (p.Tyr702Phe)
c.*2504A>T (n.*2504A>T)
c.2010A>T
c.*907A>T (n.*907A>T)
c.2417A>T
c.2438A>T (p.Tyr813Phe)
c.*1901A>T (n.*1901A>T)
c.*1024A>T (n.*1024A>T)
c.1411A>T
c.2315A>T (p.Tyr772Phe)
c.2426A>T (p.Tyr809Phe)
c.2480A>T (p.Tyr827Phe)
c.2369A>T (p.Tyr790Phe)
n.582+6031T>A
c.2054A>T (p.Tyr685Phe)
c.2051A>T (p.Tyr684Phe)
n.2842A>T
n.2677A>T
n.601-2804T>A
n.475+7919T>A
n.600+6031T>A
3g.193662890T>ACA355793164OPA1c.2589T>A (p.Tyr863Ter)
c.2424T>A (p.Tyr808Ter)
c.2535T>A (p.Tyr845Ter)
c.2478T>A (p.Tyr826Ter)
c.2363T>A
c.*649T>A (n.*649T>A)
c.2106T>A (p.Tyr702Ter)
c.*2505T>A (n.*2505T>A)
c.2011T>A
c.*908T>A (n.*908T>A)
c.2418T>A
c.2439T>A (p.Tyr813Ter)
c.*1902T>A (n.*1902T>A)
c.*1025T>A (n.*1025T>A)
c.1412T>A
c.2316T>A (p.Tyr772Ter)
c.2427T>A (p.Tyr809Ter)
c.2481T>A (p.Tyr827Ter)
c.2370T>A (p.Tyr790Ter)
n.582+6030A>T
c.2055T>A (p.Tyr685Ter)
c.2052T>A (p.Tyr684Ter)
n.2843T>A
n.2678T>A
n.601-2805A>T
n.475+7918A>T
n.600+6030A>T
3g.193662890T>CCA437441586OPA1c.2589T>C (p.Tyr863=)
c.2424T>C (p.Tyr808=)
c.2535T>C (p.Tyr845=)
c.2478T>C (p.Tyr826=)
c.2363T>C
c.*649T>C (n.*649T>C)
c.2106T>C (p.Tyr702=)
c.*2505T>C (n.*2505T>C)
c.2011T>C
c.*908T>C (n.*908T>C)
c.2418T>C
c.2439T>C (p.Tyr813=)
c.*1902T>C (n.*1902T>C)
c.*1025T>C (n.*1025T>C)
c.1412T>C
c.2316T>C (p.Tyr772=)
c.2427T>C (p.Tyr809=)
c.2481T>C (p.Tyr827=)
c.2370T>C (p.Tyr790=)
n.582+6030A>G
c.2055T>C (p.Tyr685=)
c.2052T>C (p.Tyr684=)
n.2843T>C
n.2678T>C
n.601-2805A>G
n.475+7918A>G
n.600+6030A>G
3g.193662890T>GCA355793165OPA1c.2589T>G (p.Tyr863Ter)
c.2424T>G (p.Tyr808Ter)
c.2535T>G (p.Tyr845Ter)
c.2478T>G (p.Tyr826Ter)
c.2363T>G
c.*649T>G (n.*649T>G)
c.2106T>G (p.Tyr702Ter)
c.*2505T>G (n.*2505T>G)
c.2011T>G
c.*908T>G (n.*908T>G)
c.2418T>G
c.2439T>G (p.Tyr813Ter)
c.*1902T>G (n.*1902T>G)
c.*1025T>G (n.*1025T>G)
c.1412T>G
c.2316T>G (p.Tyr772Ter)
c.2427T>G (p.Tyr809Ter)
c.2481T>G (p.Tyr827Ter)
c.2370T>G (p.Tyr790Ter)
n.582+6030A>C
c.2055T>G (p.Tyr685Ter)
c.2052T>G (p.Tyr684Ter)
n.2843T>G
n.2678T>G
n.601-2805A>C
n.475+7918A>C
n.600+6030A>C
3g.193662891C>ACA355793166OPA1c.2590C>A (p.Leu864Ile)
c.2425C>A (p.Leu809Ile)
c.2536C>A (p.Leu846Ile)
c.2479C>A (p.Leu827Ile)
c.2364C>A
c.*650C>A (n.*650C>A)
c.2107C>A (p.Leu703Ile)
c.*2506C>A (n.*2506C>A)
c.2012C>A
c.*909C>A (n.*909C>A)
c.2419C>A
c.2440C>A (p.Leu814Ile)
c.*1903C>A (n.*1903C>A)
c.*1026C>A (n.*1026C>A)
c.1413C>A
c.2317C>A (p.Leu773Ile)
c.2428C>A (p.Leu810Ile)
c.2482C>A (p.Leu828Ile)
c.1C>A (p.Leu1Ile)
c.2371C>A (p.Leu791Ile)
n.582+6029G>T
c.2056C>A (p.Leu686Ile)
c.2053C>A (p.Leu685Ile)
n.2844C>A
n.2679C>A
n.601-2806G>T
n.475+7917G>T
n.600+6029G>T
3g.193662891C>GCA355793167OPA1c.2590C>G (p.Leu864Val)
c.2425C>G (p.Leu809Val)
c.2536C>G (p.Leu846Val)
c.2479C>G (p.Leu827Val)
c.2364C>G
c.*650C>G (n.*650C>G)
c.2107C>G (p.Leu703Val)
c.*2506C>G (n.*2506C>G)
c.2012C>G
c.*909C>G (n.*909C>G)
c.2419C>G
c.2440C>G (p.Leu814Val)
c.*1903C>G (n.*1903C>G)
c.*1026C>G (n.*1026C>G)
c.1413C>G
c.2317C>G (p.Leu773Val)
c.2428C>G (p.Leu810Val)
c.2482C>G (p.Leu828Val)
c.1C>G (p.Leu1Val)
c.2371C>G (p.Leu791Val)
n.582+6029G>C
c.2056C>G (p.Leu686Val)
c.2053C>G (p.Leu685Val)
n.2844C>G
n.2679C>G
n.601-2806G>C
n.475+7917G>C
n.600+6029G>C
3g.193662891C>TCA355793168OPA1c.2590C>T (p.Leu864Phe)
c.2425C>T (p.Leu809Phe)
c.2536C>T (p.Leu846Phe)
c.2479C>T (p.Leu827Phe)
c.2364C>T
c.*650C>T (n.*650C>T)
c.2107C>T (p.Leu703Phe)
c.*2506C>T (n.*2506C>T)
c.2012C>T
c.*909C>T (n.*909C>T)
c.2419C>T
c.2440C>T (p.Leu814Phe)
c.*1903C>T (n.*1903C>T)
c.*1026C>T (n.*1026C>T)
c.1413C>T
c.2317C>T (p.Leu773Phe)
c.2428C>T (p.Leu810Phe)
c.2482C>T (p.Leu828Phe)
c.1C>T (p.Leu1Phe)
c.2371C>T (p.Leu791Phe)
n.582+6029G>A
c.2056C>T (p.Leu686Phe)
c.2053C>T (p.Leu685Phe)
n.2844C>T
n.2679C>T
n.601-2806G>A
n.475+7917G>A
n.600+6029G>A
3g.193662892T>ACA355793169OPA1c.2591T>A (p.Leu864His)
c.2426T>A (p.Leu809His)
c.2537T>A (p.Leu846His)
c.2480T>A (p.Leu827His)
c.2365T>A
c.*651T>A (n.*651T>A)
c.2108T>A (p.Leu703His)
c.*2507T>A (n.*2507T>A)
c.2013T>A
c.*910T>A (n.*910T>A)
c.2420T>A
c.2441T>A (p.Leu814His)
c.*1904T>A (n.*1904T>A)
c.*1027T>A (n.*1027T>A)
c.1414T>A
c.2318T>A (p.Leu773His)
c.2429T>A (p.Leu810His)
c.2483T>A (p.Leu828His)
c.2T>A (p.Leu1His)
c.2372T>A (p.Leu791His)
n.582+6028A>T
c.2057T>A (p.Leu686His)
c.2054T>A (p.Leu685His)
n.2845T>A
n.2680T>A
n.601-2807A>T
n.475+7916A>T
n.600+6028A>T
3g.193662892T>CCA355793170OPA1c.2591T>C (p.Leu864Pro)
c.2426T>C (p.Leu809Pro)
c.2537T>C (p.Leu846Pro)
c.2480T>C (p.Leu827Pro)
c.2365T>C
c.*651T>C (n.*651T>C)
c.2108T>C (p.Leu703Pro)
c.*2507T>C (n.*2507T>C)
c.2013T>C
c.*910T>C (n.*910T>C)
c.2420T>C
c.2441T>C (p.Leu814Pro)
c.*1904T>C (n.*1904T>C)
c.*1027T>C (n.*1027T>C)
c.1414T>C
c.2318T>C (p.Leu773Pro)
c.2429T>C (p.Leu810Pro)
c.2483T>C (p.Leu828Pro)
c.2T>C (p.Leu1Pro)
c.2372T>C (p.Leu791Pro)
n.582+6028A>G
c.2057T>C (p.Leu686Pro)
c.2054T>C (p.Leu685Pro)
n.2845T>C
n.2680T>C
n.601-2807A>G
n.475+7916A>G
n.600+6028A>G
3g.193662892T>GCA355793171OPA1c.2591T>G (p.Leu864Arg)
c.2426T>G (p.Leu809Arg)
c.2537T>G (p.Leu846Arg)
c.2480T>G (p.Leu827Arg)
c.2365T>G
c.*651T>G (n.*651T>G)
c.2108T>G (p.Leu703Arg)
c.*2507T>G (n.*2507T>G)
c.2013T>G
c.*910T>G (n.*910T>G)
c.2420T>G
c.2441T>G (p.Leu814Arg)
c.*1904T>G (n.*1904T>G)
c.*1027T>G (n.*1027T>G)
c.1414T>G
c.2318T>G (p.Leu773Arg)
c.2429T>G (p.Leu810Arg)
c.2483T>G (p.Leu828Arg)
c.2T>G (p.Leu1Arg)
c.2372T>G (p.Leu791Arg)
n.582+6028A>C
c.2057T>G (p.Leu686Arg)
c.2054T>G (p.Leu685Arg)
n.2845T>G
n.2680T>G
n.601-2807A>C
n.475+7916A>C
n.600+6028A>C
3g.193662893delCA2573332949OPA1c.2592del (p.Ala865GlnfsTer5)
c.2427del (p.Ala810GlnfsTer5)
c.2538del (p.Ala847GlnfsTer5)
c.2481del (p.Ala828GlnfsTer5)
c.2366del
c.*652del (n.*652del)
c.2109del (p.Ala704GlnfsTer5)
c.*2508del (n.*2508del)
c.2014del
c.*911del (n.*911del)
c.2421del
c.2442del (p.Ala815GlnfsTer5)
c.*1905del (n.*1905del)
c.*1028del (n.*1028del)
c.1415del
c.2319del (p.Ala774GlnfsTer5)
c.2430del (p.Ala811GlnfsTer5)
c.2484del (p.Ala829GlnfsTer5)
c.3del (p.Ala2GlnfsTer5)
c.2373del (p.Ala792GlnfsTer5)
n.582+6028del
c.2058del (p.Ala687GlnfsTer5)
c.2055del (p.Ala686GlnfsTer5)
n.2846del
n.2681del
n.601-2807del
n.475+7916del
n.600+6028del
3g.193662893T>ACA437441588OPA1c.2592T>A (p.Leu864=)
c.2427T>A (p.Leu809=)
c.2538T>A (p.Leu846=)
c.2481T>A (p.Leu827=)
c.2366T>A
c.*652T>A (n.*652T>A)
c.2109T>A (p.Leu703=)
c.*2508T>A (n.*2508T>A)
c.2014T>A
c.*911T>A (n.*911T>A)
c.2421T>A
c.2442T>A (p.Leu814=)
c.*1905T>A (n.*1905T>A)
c.*1028T>A (n.*1028T>A)
c.1415T>A
c.2319T>A (p.Leu773=)
c.2430T>A (p.Leu810=)
c.2484T>A (p.Leu828=)
c.3T>A (p.Leu1=)
c.2373T>A (p.Leu791=)
n.582+6027A>T
c.2058T>A (p.Leu686=)
c.2055T>A (p.Leu685=)
n.2846T>A
n.2681T>A
n.601-2808A>T
n.475+7915A>T
n.600+6027A>T
3g.193662893T>CCA2759700OPA1c.2592T>C (p.Leu864=)
c.2427T>C (p.Leu809=)
c.2538T>C (p.Leu846=)
c.2481T>C (p.Leu827=)
c.2366T>C
c.*652T>C (n.*652T>C)
c.2109T>C (p.Leu703=)
c.*2508T>C (n.*2508T>C)
c.2014T>C
c.*911T>C (n.*911T>C)
c.2421T>C
c.2442T>C (p.Leu814=)
c.*1905T>C (n.*1905T>C)
c.*1028T>C (n.*1028T>C)
c.1415T>C
c.2319T>C (p.Leu773=)
c.2430T>C (p.Leu810=)
c.2484T>C (p.Leu828=)
c.3T>C (p.Leu1=)
c.2373T>C (p.Leu791=)
n.582+6027A>G
c.2058T>C (p.Leu686=)
c.2055T>C (p.Leu685=)
n.2846T>C
n.2681T>C
n.601-2808A>G
n.475+7915A>G
n.600+6027A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.193662893T>GCA437441590OPA1c.2592T>G (p.Leu864=)
c.2427T>G (p.Leu809=)
c.2538T>G (p.Leu846=)
c.2481T>G (p.Leu827=)
c.2366T>G
c.*652T>G (n.*652T>G)
c.2109T>G (p.Leu703=)
c.*2508T>G (n.*2508T>G)
c.2014T>G
c.*911T>G (n.*911T>G)
c.2421T>G
c.2442T>G (p.Leu814=)
c.*1905T>G (n.*1905T>G)
c.*1028T>G (n.*1028T>G)
c.1415T>G
c.2319T>G (p.Leu773=)
c.2430T>G (p.Leu810=)
c.2484T>G (p.Leu828=)
c.3T>G (p.Leu1=)
c.2373T>G (p.Leu791=)
n.582+6027A>C
c.2058T>G (p.Leu686=)
c.2055T>G (p.Leu685=)
n.2846T>G
n.2681T>G
n.601-2808A>C
n.475+7915A>C
n.600+6027A>C
 dbSNP gnomAD v2 gnomAD v4
3g.193662893T=CA1430270656OPA1c.2592T= (p.Leu864=)
c.2427T= (p.Leu809=)
c.2538T= (p.Leu846=)
c.2481T= (p.Leu827=)
c.2366T=
c.*652T= (n.*652T=)
c.2109T= (p.Leu703=)
c.*2508T= (n.*2508T=)
c.2014T=
c.*911T= (n.*911T=)
c.2421T=
c.2442T= (p.Leu814=)
c.*1905T= (n.*1905T=)
c.*1028T= (n.*1028T=)
c.1415T=
c.2319T= (p.Leu773=)
c.2430T= (p.Leu810=)
c.2484T= (p.Leu828=)
c.3T= (p.Leu1=)
c.2373T= (p.Leu791=)
n.582+6027A=
c.2058T= (p.Leu686=)
c.2055T= (p.Leu685=)
n.2846T=
n.2681T=
n.601-2808A=
n.475+7915A=
n.600+6027A=
3g.193662894G>ACA2759701OPA1c.2593G>A (p.Ala865Thr)
c.2428G>A (p.Ala810Thr)
c.2539G>A (p.Ala847Thr)
c.2482G>A (p.Ala828Thr)
c.2367G>A
c.*653G>A (n.*653G>A)
c.2110G>A (p.Ala704Thr)
c.*2509G>A (n.*2509G>A)
c.2015G>A
c.*912G>A (n.*912G>A)
c.2422G>A
c.2443G>A (p.Ala815Thr)
c.*1906G>A (n.*1906G>A)
c.*1029G>A (n.*1029G>A)
c.1416G>A
c.2320G>A (p.Ala774Thr)
c.2431G>A (p.Ala811Thr)
c.2485G>A (p.Ala829Thr)
c.4G>A (p.Ala2Thr)
c.2374G>A (p.Ala792Thr)
n.582+6026C>T
c.2059G>A (p.Ala687Thr)
c.2056G>A (p.Ala686Thr)
n.2847G>A
n.2682G>A
n.601-2809C>T
n.475+7914C>T
n.600+6026C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.193662894G>CCA355793172OPA1c.2593G>C (p.Ala865Pro)
c.2428G>C (p.Ala810Pro)
c.2539G>C (p.Ala847Pro)
c.2482G>C (p.Ala828Pro)
c.2367G>C
c.*653G>C (n.*653G>C)
c.2110G>C (p.Ala704Pro)
c.*2509G>C (n.*2509G>C)
c.2015G>C
c.*912G>C (n.*912G>C)
c.2422G>C
c.2443G>C (p.Ala815Pro)
c.*1906G>C (n.*1906G>C)
c.*1029G>C (n.*1029G>C)
c.1416G>C
c.2320G>C (p.Ala774Pro)
c.2431G>C (p.Ala811Pro)
c.2485G>C (p.Ala829Pro)
c.4G>C (p.Ala2Pro)
c.2374G>C (p.Ala792Pro)
n.582+6026C>G
c.2059G>C (p.Ala687Pro)
c.2056G>C (p.Ala686Pro)
n.2847G>C
n.2682G>C
n.601-2809C>G
n.475+7914C>G
n.600+6026C>G
3g.193662894G=CA1430270664OPA1c.2593G= (p.Ala865=)
c.2428G= (p.Ala810=)
c.2539G= (p.Ala847=)
c.2482G= (p.Ala828=)
c.2367G=
c.*653G= (n.*653G=)
c.2110G= (p.Ala704=)
c.*2509G= (n.*2509G=)
c.2015G=
c.*912G= (n.*912G=)
c.2422G=
c.2443G= (p.Ala815=)
c.*1906G= (n.*1906G=)
c.*1029G= (n.*1029G=)
c.1416G=
c.2320G= (p.Ala774=)
c.2431G= (p.Ala811=)
c.2485G= (p.Ala829=)
c.4G= (p.Ala2=)
c.2374G= (p.Ala792=)
n.582+6026C=
c.2059G= (p.Ala687=)
c.2056G= (p.Ala686=)
n.2847G=
n.2682G=
n.601-2809C=
n.475+7914C=
n.600+6026C=
3g.193662894G>TCA355793173OPA1c.2593G>T (p.Ala865Ser)
c.2428G>T (p.Ala810Ser)
c.2539G>T (p.Ala847Ser)
c.2482G>T (p.Ala828Ser)
c.2367G>T
c.*653G>T (n.*653G>T)
c.2110G>T (p.Ala704Ser)
c.*2509G>T (n.*2509G>T)
c.2015G>T
c.*912G>T (n.*912G>T)
c.2422G>T
c.2443G>T (p.Ala815Ser)
c.*1906G>T (n.*1906G>T)
c.*1029G>T (n.*1029G>T)
c.1416G>T
c.2320G>T (p.Ala774Ser)
c.2431G>T (p.Ala811Ser)
c.2485G>T (p.Ala829Ser)
c.4G>T (p.Ala2Ser)
c.2374G>T (p.Ala792Ser)
n.582+6026C>A
c.2059G>T (p.Ala687Ser)
c.2056G>T (p.Ala686Ser)
n.2847G>T
n.2682G>T
n.601-2809C>A
n.475+7914C>A
n.600+6026C>A
3g.193662895C>ACA355793174OPA1c.2594C>A (p.Ala865Glu)
c.2429C>A (p.Ala810Glu)
c.2540C>A (p.Ala847Glu)
c.2483C>A (p.Ala828Glu)
c.2368C>A
c.*654C>A (n.*654C>A)
c.2111C>A (p.Ala704Glu)
c.*2510C>A (n.*2510C>A)
c.2016C>A
c.*913C>A (n.*913C>A)
c.2423C>A
c.2444C>A (p.Ala815Glu)
c.*1907C>A (n.*1907C>A)
c.*1030C>A (n.*1030C>A)
c.1417C>A
c.2321C>A (p.Ala774Glu)
c.2432C>A (p.Ala811Glu)
c.2486C>A (p.Ala829Glu)
c.5C>A (p.Ala2Glu)
c.2375C>A (p.Ala792Glu)
n.582+6025G>T
c.2060C>A (p.Ala687Glu)
c.2057C>A (p.Ala686Glu)
n.2848C>A
n.2683C>A
n.601-2810G>T
n.475+7913G>T
n.600+6025G>T
3g.193662895C>GCA355793176OPA1c.2594C>G (p.Ala865Gly)
c.2429C>G (p.Ala810Gly)
c.2540C>G (p.Ala847Gly)
c.2483C>G (p.Ala828Gly)
c.2368C>G
c.*654C>G (n.*654C>G)
c.2111C>G (p.Ala704Gly)
c.*2510C>G (n.*2510C>G)
c.2016C>G
c.*913C>G (n.*913C>G)
c.2423C>G
c.2444C>G (p.Ala815Gly)
c.*1907C>G (n.*1907C>G)
c.*1030C>G (n.*1030C>G)
c.1417C>G
c.2321C>G (p.Ala774Gly)
c.2432C>G (p.Ala811Gly)
c.2486C>G (p.Ala829Gly)
c.5C>G (p.Ala2Gly)
c.2375C>G (p.Ala792Gly)
n.582+6025G>C
c.2060C>G (p.Ala687Gly)
c.2057C>G (p.Ala686Gly)
n.2848C>G
n.2683C>G
n.601-2810G>C
n.475+7913G>C
n.600+6025G>C
3g.193662895C>TCA355793175OPA1c.2594C>T (p.Ala865Val)
c.2429C>T (p.Ala810Val)
c.2540C>T (p.Ala847Val)
c.2483C>T (p.Ala828Val)
c.2368C>T
c.*654C>T (n.*654C>T)
c.2111C>T (p.Ala704Val)
c.*2510C>T (n.*2510C>T)
c.2016C>T
c.*913C>T (n.*913C>T)
c.2423C>T
c.2444C>T (p.Ala815Val)
c.*1907C>T (n.*1907C>T)
c.*1030C>T (n.*1030C>T)
c.1417C>T
c.2321C>T (p.Ala774Val)
c.2432C>T (p.Ala811Val)
c.2486C>T (p.Ala829Val)
c.5C>T (p.Ala2Val)
c.2375C>T (p.Ala792Val)
n.582+6025G>A
c.2060C>T (p.Ala687Val)
c.2057C>T (p.Ala686Val)
n.2848C>T
n.2683C>T
n.601-2810G>A
n.475+7913G>A
n.600+6025G>A
3g.193662896A>CCA437441597OPA1c.2595A>C (p.Ala865=)
c.2430A>C (p.Ala810=)
c.2541A>C (p.Ala847=)
c.2484A>C (p.Ala828=)
c.2369A>C
c.*655A>C (n.*655A>C)
c.2112A>C (p.Ala704=)
c.*2511A>C (n.*2511A>C)
c.2017A>C
c.*914A>C (n.*914A>C)
c.2424A>C
c.2445A>C (p.Ala815=)
c.*1908A>C (n.*1908A>C)
c.*1031A>C (n.*1031A>C)
c.1418A>C
c.2322A>C (p.Ala774=)
c.2433A>C (p.Ala811=)
c.2487A>C (p.Ala829=)
c.6A>C (p.Ala2=)
c.2376A>C (p.Ala792=)
n.582+6024T>G
c.2061A>C (p.Ala687=)
c.2058A>C (p.Ala686=)
n.2849A>C
n.2684A>C
n.601-2811T>G
n.475+7912T>G
n.600+6024T>G
3g.193662896A>GCA437441598OPA1c.2595A>G (p.Ala865=)
c.2430A>G (p.Ala810=)
c.2541A>G (p.Ala847=)
c.2484A>G (p.Ala828=)
c.2369A>G
c.*655A>G (n.*655A>G)
c.2112A>G (p.Ala704=)
c.*2511A>G (n.*2511A>G)
c.2017A>G
c.*914A>G (n.*914A>G)
c.2424A>G
c.2445A>G (p.Ala815=)
c.*1908A>G (n.*1908A>G)
c.*1031A>G (n.*1031A>G)
c.1418A>G
c.2322A>G (p.Ala774=)
c.2433A>G (p.Ala811=)
c.2487A>G (p.Ala829=)
c.6A>G (p.Ala2=)
c.2376A>G (p.Ala792=)
n.582+6024T>C
c.2061A>G (p.Ala687=)
c.2058A>G (p.Ala686=)
n.2849A>G
n.2684A>G
n.601-2811T>C
n.475+7912T>C
n.600+6024T>C
 gnomAD v4
3g.193662896A>TCA437441599OPA1c.2595A>T (p.Ala865=)
c.2430A>T (p.Ala810=)
c.2541A>T (p.Ala847=)
c.2484A>T (p.Ala828=)
c.2369A>T
c.*655A>T (n.*655A>T)
c.2112A>T (p.Ala704=)
c.*2511A>T (n.*2511A>T)
c.2017A>T
c.*914A>T (n.*914A>T)
c.2424A>T
c.2445A>T (p.Ala815=)
c.*1908A>T (n.*1908A>T)
c.*1031A>T (n.*1031A>T)
c.1418A>T
c.2322A>T (p.Ala774=)
c.2433A>T (p.Ala811=)
c.2487A>T (p.Ala829=)
c.6A>T (p.Ala2=)
c.2376A>T (p.Ala792=)
n.582+6024T>A
c.2061A>T (p.Ala687=)
c.2058A>T (p.Ala686=)
n.2849A>T
n.2684A>T
n.601-2811T>A
n.475+7912T>A
n.600+6024T>A
3g.193662897A>CCA355793177OPA1c.2596A>C (p.Ser866Arg)
c.2431A>C (p.Ser811Arg)
c.2542A>C (p.Ser848Arg)
c.2485A>C (p.Ser829Arg)
c.2370A>C
c.*656A>C (n.*656A>C)
c.2113A>C (p.Ser705Arg)
c.*2512A>C (n.*2512A>C)
c.2018A>C
c.*915A>C (n.*915A>C)
c.2425A>C
c.2446A>C (p.Ser816Arg)
c.*1909A>C (n.*1909A>C)
c.*1032A>C (n.*1032A>C)
c.1419A>C
c.2323A>C (p.Ser775Arg)
c.2434A>C (p.Ser812Arg)
c.2488A>C (p.Ser830Arg)
c.7A>C (p.Ser3Arg)
c.2377A>C (p.Ser793Arg)
n.582+6023T>G
c.2062A>C (p.Ser688Arg)
c.2059A>C (p.Ser687Arg)
n.2850A>C
n.2685A>C
n.601-2812T>G
n.475+7911T>G
n.600+6023T>G
3g.193662897A>GCA355793179OPA1c.2596A>G (p.Ser866Gly)
c.2431A>G (p.Ser811Gly)
c.2542A>G (p.Ser848Gly)
c.2485A>G (p.Ser829Gly)
c.2370A>G
c.*656A>G (n.*656A>G)
c.2113A>G (p.Ser705Gly)
c.*2512A>G (n.*2512A>G)
c.2018A>G
c.*915A>G (n.*915A>G)
c.2425A>G
c.2446A>G (p.Ser816Gly)
c.*1909A>G (n.*1909A>G)
c.*1032A>G (n.*1032A>G)
c.1419A>G
c.2323A>G (p.Ser775Gly)
c.2434A>G (p.Ser812Gly)
c.2488A>G (p.Ser830Gly)
c.7A>G (p.Ser3Gly)
c.2377A>G (p.Ser793Gly)
n.582+6023T>C
c.2062A>G (p.Ser688Gly)
c.2059A>G (p.Ser687Gly)
n.2850A>G
n.2685A>G
n.601-2812T>C
n.475+7911T>C
n.600+6023T>C
3g.193662897A>TCA355793178OPA1c.2596A>T (p.Ser866Cys)
c.2431A>T (p.Ser811Cys)
c.2542A>T (p.Ser848Cys)
c.2485A>T (p.Ser829Cys)
c.2370A>T
c.*656A>T (n.*656A>T)
c.2113A>T (p.Ser705Cys)
c.*2512A>T (n.*2512A>T)
c.2018A>T
c.*915A>T (n.*915A>T)
c.2425A>T
c.2446A>T (p.Ser816Cys)
c.*1909A>T (n.*1909A>T)
c.*1032A>T (n.*1032A>T)
c.1419A>T
c.2323A>T (p.Ser775Cys)
c.2434A>T (p.Ser812Cys)
c.2488A>T (p.Ser830Cys)
c.7A>T (p.Ser3Cys)
c.2377A>T (p.Ser793Cys)
n.582+6023T>A
c.2062A>T (p.Ser688Cys)
c.2059A>T (p.Ser687Cys)
n.2850A>T
n.2685A>T
n.601-2812T>A
n.475+7911T>A
n.600+6023T>A
3g.193662898G>ACA355793180OPA1c.2597G>A (p.Ser866Asn)
c.2432G>A (p.Ser811Asn)
c.2543G>A (p.Ser848Asn)
c.2486G>A (p.Ser829Asn)
c.2371G>A
c.*657G>A (n.*657G>A)
c.2114G>A (p.Ser705Asn)
c.*2513G>A (n.*2513G>A)
c.2019G>A
c.*916G>A (n.*916G>A)
c.2426G>A
c.2447G>A (p.Ser816Asn)
c.*1910G>A (n.*1910G>A)
c.*1033G>A (n.*1033G>A)
c.1420G>A
c.2324G>A (p.Ser775Asn)
c.2435G>A (p.Ser812Asn)
c.2489G>A (p.Ser830Asn)
c.8G>A (p.Ser3Asn)
c.2378G>A (p.Ser793Asn)
n.582+6022C>T
c.2063G>A (p.Ser688Asn)
c.2060G>A (p.Ser687Asn)
n.2851G>A
n.2686G>A
n.601-2813C>T
n.475+7910C>T
n.600+6022C>T
 ClinVar
3g.193662898G>CCA355793181OPA1c.2597G>C (p.Ser866Thr)
c.2432G>C (p.Ser811Thr)
c.2543G>C (p.Ser848Thr)
c.2486G>C (p.Ser829Thr)
c.2371G>C
c.*657G>C (n.*657G>C)
c.2114G>C (p.Ser705Thr)
c.*2513G>C (n.*2513G>C)
c.2019G>C
c.*916G>C (n.*916G>C)
c.2426G>C
c.2447G>C (p.Ser816Thr)
c.*1910G>C (n.*1910G>C)
c.*1033G>C (n.*1033G>C)
c.1420G>C
c.2324G>C (p.Ser775Thr)
c.2435G>C (p.Ser812Thr)
c.2489G>C (p.Ser830Thr)
c.8G>C (p.Ser3Thr)
c.2378G>C (p.Ser793Thr)
n.582+6022C>G
c.2063G>C (p.Ser688Thr)
c.2060G>C (p.Ser687Thr)
n.2851G>C
n.2686G>C
n.601-2813C>G
n.475+7910C>G
n.600+6022C>G
3g.193662898G>TCA355793182OPA1c.2597G>T (p.Ser866Ile)
c.2432G>T (p.Ser811Ile)
c.2543G>T (p.Ser848Ile)
c.2486G>T (p.Ser829Ile)
c.2371G>T
c.*657G>T (n.*657G>T)
c.2114G>T (p.Ser705Ile)
c.*2513G>T (n.*2513G>T)
c.2019G>T
c.*916G>T (n.*916G>T)
c.2426G>T
c.2447G>T (p.Ser816Ile)
c.*1910G>T (n.*1910G>T)
c.*1033G>T (n.*1033G>T)
c.1420G>T
c.2324G>T (p.Ser775Ile)
c.2435G>T (p.Ser812Ile)
c.2489G>T (p.Ser830Ile)
c.8G>T (p.Ser3Ile)
c.2378G>T (p.Ser793Ile)
n.582+6022C>A
c.2063G>T (p.Ser688Ile)
c.2060G>T (p.Ser687Ile)
n.2851G>T
n.2686G>T
n.601-2813C>A
n.475+7910C>A
n.600+6022C>A
3g.193662899T>ACA355793183OPA1c.2598T>A (p.Ser866Arg)
c.2433T>A (p.Ser811Arg)
c.2544T>A (p.Ser848Arg)
c.2487T>A (p.Ser829Arg)
c.2372T>A
c.*658T>A (n.*658T>A)
c.2115T>A (p.Ser705Arg)
c.*2514T>A (n.*2514T>A)
c.2020T>A
c.*917T>A (n.*917T>A)
c.2427T>A
c.2448T>A (p.Ser816Arg)
c.*1911T>A (n.*1911T>A)
c.*1034T>A (n.*1034T>A)
c.1421T>A
c.2325T>A (p.Ser775Arg)
c.2436T>A (p.Ser812Arg)
c.2490T>A (p.Ser830Arg)
c.9T>A (p.Ser3Arg)
c.2379T>A (p.Ser793Arg)
n.582+6021A>T
c.2064T>A (p.Ser688Arg)
c.2061T>A (p.Ser687Arg)
n.2852T>A
n.2687T>A
n.601-2814A>T
n.475+7909A>T
n.600+6021A>T
3g.193662899T>CCA2759702OPA1c.2598T>C (p.Ser866=)
c.2433T>C (p.Ser811=)
c.2544T>C (p.Ser848=)
c.2487T>C (p.Ser829=)
c.2372T>C
c.*658T>C (n.*658T>C)
c.2115T>C (p.Ser705=)
c.*2514T>C (n.*2514T>C)
c.2020T>C
c.*917T>C (n.*917T>C)
c.2427T>C
c.2448T>C (p.Ser816=)
c.*1911T>C (n.*1911T>C)
c.*1034T>C (n.*1034T>C)
c.1421T>C
c.2325T>C (p.Ser775=)
c.2436T>C (p.Ser812=)
c.2490T>C (p.Ser830=)
c.9T>C (p.Ser3=)
c.2379T>C (p.Ser793=)
n.582+6021A>G
c.2064T>C (p.Ser688=)
c.2061T>C (p.Ser687=)
n.2852T>C
n.2687T>C
n.601-2814A>G
n.475+7909A>G
n.600+6021A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.193662899T>GCA355793184OPA1c.2598T>G (p.Ser866Arg)
c.2433T>G (p.Ser811Arg)
c.2544T>G (p.Ser848Arg)
c.2487T>G (p.Ser829Arg)
c.2372T>G
c.*658T>G (n.*658T>G)
c.2115T>G (p.Ser705Arg)
c.*2514T>G (n.*2514T>G)
c.2020T>G
c.*917T>G (n.*917T>G)
c.2427T>G
c.2448T>G (p.Ser816Arg)
c.*1911T>G (n.*1911T>G)
c.*1034T>G (n.*1034T>G)
c.1421T>G
c.2325T>G (p.Ser775Arg)
c.2436T>G (p.Ser812Arg)
c.2490T>G (p.Ser830Arg)
c.9T>G (p.Ser3Arg)
c.2379T>G (p.Ser793Arg)
n.582+6021A>C
c.2064T>G (p.Ser688Arg)
c.2061T>G (p.Ser687Arg)
n.2852T>G
n.2687T>G
n.601-2814A>C
n.475+7909A>C
n.600+6021A>C
3g.193662899T=CA1430270670OPA1c.2598T= (p.Ser866=)
c.2433T= (p.Ser811=)
c.2544T= (p.Ser848=)
c.2487T= (p.Ser829=)
c.2372T=
c.*658T= (n.*658T=)
c.2115T= (p.Ser705=)
c.*2514T= (n.*2514T=)
c.2020T=
c.*917T= (n.*917T=)
c.2427T=
c.2448T= (p.Ser816=)
c.*1911T= (n.*1911T=)
c.*1034T= (n.*1034T=)
c.1421T=
c.2325T= (p.Ser775=)
c.2436T= (p.Ser812=)
c.2490T= (p.Ser830=)
c.9T= (p.Ser3=)
c.2379T= (p.Ser793=)
n.582+6021A=
c.2064T= (p.Ser688=)
c.2061T= (p.Ser687=)
n.2852T=
n.2687T=
n.601-2814A=
n.475+7909A=
n.600+6021A=
3g.193662900G>ACA355793185OPA1c.2599G>A (p.Asp867Asn)
c.2434G>A (p.Asp812Asn)
c.2545G>A (p.Asp849Asn)
c.2488G>A (p.Asp830Asn)
c.2373G>A
c.*659G>A (n.*659G>A)
c.2116G>A (p.Asp706Asn)
c.*2515G>A (n.*2515G>A)
c.2021G>A
c.*918G>A (n.*918G>A)
c.2428G>A
c.2449G>A (p.Asp817Asn)
c.*1912G>A (n.*1912G>A)
c.*1035G>A (n.*1035G>A)
c.1422G>A
c.2326G>A (p.Asp776Asn)
c.2437G>A (p.Asp813Asn)
c.2491G>A (p.Asp831Asn)
c.10G>A (p.Asp4Asn)
c.2380G>A (p.Asp794Asn)
n.582+6020C>T
c.2065G>A (p.Asp689Asn)
c.2062G>A (p.Asp688Asn)
n.2853G>A
n.2688G>A
n.601-2815C>T
n.475+7908C>T
n.600+6020C>T
3g.193662900G>CCA355793186OPA1c.2599G>C (p.Asp867His)
c.2434G>C (p.Asp812His)
c.2545G>C (p.Asp849His)
c.2488G>C (p.Asp830His)
c.2373G>C
c.*659G>C (n.*659G>C)
c.2116G>C (p.Asp706His)
c.*2515G>C (n.*2515G>C)
c.2021G>C
c.*918G>C (n.*918G>C)
c.2428G>C
c.2449G>C (p.Asp817His)
c.*1912G>C (n.*1912G>C)
c.*1035G>C (n.*1035G>C)
c.1422G>C
c.2326G>C (p.Asp776His)
c.2437G>C (p.Asp813His)
c.2491G>C (p.Asp831His)
c.10G>C (p.Asp4His)
c.2380G>C (p.Asp794His)
n.582+6020C>G
c.2065G>C (p.Asp689His)
c.2062G>C (p.Asp688His)
n.2853G>C
n.2688G>C
n.601-2815C>G
n.475+7908C>G
n.600+6020C>G
3g.193662900G>TCA355793187OPA1c.2599G>T (p.Asp867Tyr)
c.2434G>T (p.Asp812Tyr)
c.2545G>T (p.Asp849Tyr)
c.2488G>T (p.Asp830Tyr)
c.2373G>T
c.*659G>T (n.*659G>T)
c.2116G>T (p.Asp706Tyr)
c.*2515G>T (n.*2515G>T)
c.2021G>T
c.*918G>T (n.*918G>T)
c.2428G>T
c.2449G>T (p.Asp817Tyr)
c.*1912G>T (n.*1912G>T)
c.*1035G>T (n.*1035G>T)
c.1422G>T
c.2326G>T (p.Asp776Tyr)
c.2437G>T (p.Asp813Tyr)
c.2491G>T (p.Asp831Tyr)
c.10G>T (p.Asp4Tyr)
c.2380G>T (p.Asp794Tyr)
n.582+6020C>A
c.2065G>T (p.Asp689Tyr)
c.2062G>T (p.Asp688Tyr)
n.2853G>T
n.2688G>T
n.601-2815C>A
n.475+7908C>A
n.600+6020C>A
3g.193662901A>CCA355793188OPA1c.2600A>C (p.Asp867Ala)
c.2435A>C (p.Asp812Ala)
c.2546A>C (p.Asp849Ala)
c.2489A>C (p.Asp830Ala)
c.2374A>C
c.*660A>C (n.*660A>C)
c.2117A>C (p.Asp706Ala)
c.*2516A>C (n.*2516A>C)
c.2022A>C
c.*919A>C (n.*919A>C)
c.2429A>C
c.2450A>C (p.Asp817Ala)
c.*1913A>C (n.*1913A>C)
c.*1036A>C (n.*1036A>C)
c.1423A>C
c.2327A>C (p.Asp776Ala)
c.2438A>C (p.Asp813Ala)
c.2492A>C (p.Asp831Ala)
c.11A>C (p.Asp4Ala)
c.2381A>C (p.Asp794Ala)
n.582+6019T>G
c.2066A>C (p.Asp689Ala)
c.2063A>C (p.Asp688Ala)
n.2854A>C
n.2689A>C
n.601-2816T>G
n.475+7907T>G
n.600+6019T>G
3g.193662901A>GCA355793189OPA1c.2600A>G (p.Asp867Gly)
c.2435A>G (p.Asp812Gly)
c.2546A>G (p.Asp849Gly)
c.2489A>G (p.Asp830Gly)
c.2374A>G
c.*660A>G (n.*660A>G)
c.2117A>G (p.Asp706Gly)
c.*2516A>G (n.*2516A>G)
c.2022A>G
c.*919A>G (n.*919A>G)
c.2429A>G
c.2450A>G (p.Asp817Gly)
c.*1913A>G (n.*1913A>G)
c.*1036A>G (n.*1036A>G)
c.1423A>G
c.2327A>G (p.Asp776Gly)
c.2438A>G (p.Asp813Gly)
c.2492A>G (p.Asp831Gly)
c.11A>G (p.Asp4Gly)
c.2381A>G (p.Asp794Gly)
n.582+6019T>C
c.2066A>G (p.Asp689Gly)
c.2063A>G (p.Asp688Gly)
n.2854A>G
n.2689A>G
n.601-2816T>C
n.475+7907T>C
n.600+6019T>C
 ClinVar
3g.193662901A>TCA355793190OPA1c.2600A>T (p.Asp867Val)
c.2435A>T (p.Asp812Val)
c.2546A>T (p.Asp849Val)
c.2489A>T (p.Asp830Val)
c.2374A>T
c.*660A>T (n.*660A>T)
c.2117A>T (p.Asp706Val)
c.*2516A>T (n.*2516A>T)
c.2022A>T
c.*919A>T (n.*919A>T)
c.2429A>T
c.2450A>T (p.Asp817Val)
c.*1913A>T (n.*1913A>T)
c.*1036A>T (n.*1036A>T)
c.1423A>T
c.2327A>T (p.Asp776Val)
c.2438A>T (p.Asp813Val)
c.2492A>T (p.Asp831Val)
c.11A>T (p.Asp4Val)
c.2381A>T (p.Asp794Val)
n.582+6019T>A
c.2066A>T (p.Asp689Val)
c.2063A>T (p.Asp688Val)
n.2854A>T
n.2689A>T
n.601-2816T>A
n.475+7907T>A
n.600+6019T>A
3g.193662902T>ACA355793191OPA1c.2601T>A (p.Asp867Glu)
c.2436T>A (p.Asp812Glu)
c.2547T>A (p.Asp849Glu)
c.2490T>A (p.Asp830Glu)
c.2375T>A
c.*661T>A (n.*661T>A)
c.2118T>A (p.Asp706Glu)
c.*2517T>A (n.*2517T>A)
c.2023T>A
c.*920T>A (n.*920T>A)
c.2430T>A
c.2451T>A (p.Asp817Glu)
c.*1914T>A (n.*1914T>A)
c.*1037T>A (n.*1037T>A)
c.1424T>A
c.2328T>A (p.Asp776Glu)
c.2439T>A (p.Asp813Glu)
c.2493T>A (p.Asp831Glu)
c.12T>A (p.Asp4Glu)
c.2382T>A (p.Asp794Glu)
n.582+6018A>T
c.2067T>A (p.Asp689Glu)
c.2064T>A (p.Asp688Glu)
n.2855T>A
n.2690T>A
n.601-2817A>T
n.475+7906A>T
n.600+6018A>T
3g.193662902T>CCA437441601OPA1c.2601T>C (p.Asp867=)
c.2436T>C (p.Asp812=)
c.2547T>C (p.Asp849=)
c.2490T>C (p.Asp830=)
c.2375T>C
c.*661T>C (n.*661T>C)
c.2118T>C (p.Asp706=)
c.*2517T>C (n.*2517T>C)
c.2023T>C
c.*920T>C (n.*920T>C)
c.2430T>C
c.2451T>C (p.Asp817=)
c.*1914T>C (n.*1914T>C)
c.*1037T>C (n.*1037T>C)
c.1424T>C
c.2328T>C (p.Asp776=)
c.2439T>C (p.Asp813=)
c.2493T>C (p.Asp831=)
c.12T>C (p.Asp4=)
c.2382T>C (p.Asp794=)
n.582+6018A>G
c.2067T>C (p.Asp689=)
c.2064T>C (p.Asp688=)
n.2855T>C
n.2690T>C
n.601-2817A>G
n.475+7906A>G
n.600+6018A>G
3g.193662902T>GCA355793192OPA1c.2601T>G (p.Asp867Glu)
c.2436T>G (p.Asp812Glu)
c.2547T>G (p.Asp849Glu)
c.2490T>G (p.Asp830Glu)
c.2375T>G
c.*661T>G (n.*661T>G)
c.2118T>G (p.Asp706Glu)
c.*2517T>G (n.*2517T>G)
c.2023T>G
c.*920T>G (n.*920T>G)
c.2430T>G
c.2451T>G (p.Asp817Glu)
c.*1914T>G (n.*1914T>G)
c.*1037T>G (n.*1037T>G)
c.1424T>G
c.2328T>G (p.Asp776Glu)
c.2439T>G (p.Asp813Glu)
c.2493T>G (p.Asp831Glu)
c.12T>G (p.Asp4Glu)
c.2382T>G (p.Asp794Glu)
n.582+6018A>C
c.2067T>G (p.Asp689Glu)
c.2064T>G (p.Asp688Glu)
n.2855T>G
n.2690T>G
n.601-2817A>C
n.475+7906A>C
n.600+6018A>C
3g.193662903G>ACA355793193OPA1c.2602G>A (p.Glu868Lys)
c.2437G>A (p.Glu813Lys)
c.2548G>A (p.Glu850Lys)
c.2491G>A (p.Glu831Lys)
c.2376G>A
c.*662G>A (n.*662G>A)
c.2119G>A (p.Glu707Lys)
c.*2518G>A (n.*2518G>A)
c.2024G>A
c.*921G>A (n.*921G>A)
c.2431G>A
c.2452G>A (p.Glu818Lys)
c.*1915G>A (n.*1915G>A)
c.*1038G>A (n.*1038G>A)
c.1425G>A
c.2329G>A (p.Glu777Lys)
c.2440G>A (p.Glu814Lys)
c.2494G>A (p.Glu832Lys)
c.13G>A (p.Glu5Lys)
c.2383G>A (p.Glu795Lys)
n.582+6017C>T
c.2068G>A (p.Glu690Lys)
c.2065G>A (p.Glu689Lys)
n.2856G>A
n.2691G>A
n.601-2818C>T
n.475+7905C>T
n.600+6017C>T
3g.193662903G>CCA355793194OPA1c.2602G>C (p.Glu868Gln)
c.2437G>C (p.Glu813Gln)
c.2548G>C (p.Glu850Gln)
c.2491G>C (p.Glu831Gln)
c.2376G>C
c.*662G>C (n.*662G>C)
c.2119G>C (p.Glu707Gln)
c.*2518G>C (n.*2518G>C)
c.2024G>C
c.*921G>C (n.*921G>C)
c.2431G>C
c.2452G>C (p.Glu818Gln)
c.*1915G>C (n.*1915G>C)
c.*1038G>C (n.*1038G>C)
c.1425G>C
c.2329G>C (p.Glu777Gln)
c.2440G>C (p.Glu814Gln)
c.2494G>C (p.Glu832Gln)
c.13G>C (p.Glu5Gln)
c.2383G>C (p.Glu795Gln)
n.582+6017C>G
c.2068G>C (p.Glu690Gln)
c.2065G>C (p.Glu689Gln)
n.2856G>C
n.2691G>C
n.601-2818C>G
n.475+7905C>G
n.600+6017C>G
3g.193662903G>TCA355793195OPA1c.2602G>T (p.Glu868Ter)
c.2437G>T (p.Glu813Ter)
c.2548G>T (p.Glu850Ter)
c.2491G>T (p.Glu831Ter)
c.2376G>T
c.*662G>T (n.*662G>T)
c.2119G>T (p.Glu707Ter)
c.*2518G>T (n.*2518G>T)
c.2024G>T
c.*921G>T (n.*921G>T)
c.2431G>T
c.2452G>T (p.Glu818Ter)
c.*1915G>T (n.*1915G>T)
c.*1038G>T (n.*1038G>T)
c.1425G>T
c.2329G>T (p.Glu777Ter)
c.2440G>T (p.Glu814Ter)
c.2494G>T (p.Glu832Ter)
c.13G>T (p.Glu5Ter)
c.2383G>T (p.Glu795Ter)
n.582+6017C>A
c.2068G>T (p.Glu690Ter)
c.2065G>T (p.Glu689Ter)
n.2856G>T
n.2691G>T
n.601-2818C>A
n.475+7905C>A
n.600+6017C>A
3g.193662904A>CCA355793196OPA1c.2603A>C (p.Glu868Ala)
c.2438A>C (p.Glu813Ala)
c.2549A>C (p.Glu850Ala)
c.2492A>C (p.Glu831Ala)
c.2377A>C
c.*663A>C (n.*663A>C)
c.2120A>C (p.Glu707Ala)
c.*2519A>C (n.*2519A>C)
c.2025A>C
c.*922A>C (n.*922A>C)
c.2432A>C
c.2453A>C (p.Glu818Ala)
c.*1916A>C (n.*1916A>C)
c.*1039A>C (n.*1039A>C)
c.1426A>C
c.2330A>C (p.Glu777Ala)
c.2441A>C (p.Glu814Ala)
c.2495A>C (p.Glu832Ala)
c.14A>C (p.Glu5Ala)
c.2384A>C (p.Glu795Ala)
n.582+6016T>G
c.2069A>C (p.Glu690Ala)
c.2066A>C (p.Glu689Ala)
n.2857A>C
n.2692A>C
n.601-2819T>G
n.475+7904T>G
n.600+6016T>G
3g.193662904A>GCA355793197OPA1c.2603A>G (p.Glu868Gly)
c.2438A>G (p.Glu813Gly)
c.2549A>G (p.Glu850Gly)
c.2492A>G (p.Glu831Gly)
c.2377A>G
c.*663A>G (n.*663A>G)
c.2120A>G (p.Glu707Gly)
c.*2519A>G (n.*2519A>G)
c.2025A>G
c.*922A>G (n.*922A>G)
c.2432A>G
c.2453A>G (p.Glu818Gly)
c.*1916A>G (n.*1916A>G)
c.*1039A>G (n.*1039A>G)
c.1426A>G
c.2330A>G (p.Glu777Gly)
c.2441A>G (p.Glu814Gly)
c.2495A>G (p.Glu832Gly)
c.14A>G (p.Glu5Gly)
c.2384A>G (p.Glu795Gly)
n.582+6016T>C
c.2069A>G (p.Glu690Gly)
c.2066A>G (p.Glu689Gly)
n.2857A>G
n.2692A>G
n.601-2819T>C
n.475+7904T>C
n.600+6016T>C
3g.193662904A>TCA355793198OPA1c.2603A>T (p.Glu868Val)
c.2438A>T (p.Glu813Val)
c.2549A>T (p.Glu850Val)
c.2492A>T (p.Glu831Val)
c.2377A>T
c.*663A>T (n.*663A>T)
c.2120A>T (p.Glu707Val)
c.*2519A>T (n.*2519A>T)
c.2025A>T
c.*922A>T (n.*922A>T)
c.2432A>T
c.2453A>T (p.Glu818Val)
c.*1916A>T (n.*1916A>T)
c.*1039A>T (n.*1039A>T)
c.1426A>T
c.2330A>T (p.Glu777Val)
c.2441A>T (p.Glu814Val)
c.2495A>T (p.Glu832Val)
c.14A>T (p.Glu5Val)
c.2384A>T (p.Glu795Val)
n.582+6016T>A
c.2069A>T (p.Glu690Val)
c.2066A>T (p.Glu689Val)
n.2857A>T
n.2692A>T
n.601-2819T>A
n.475+7904T>A
n.600+6016T>A
3g.193662906delCA2697557029OPA1c.2605del (p.Ile869Ter)
c.2440del (p.Ile814Ter)
c.2551del (p.Ile851Ter)
c.2494del (p.Ile832Ter)
c.2379del
c.*665del (n.*665del)
c.2122del (p.Ile708Ter)
c.*2521del (n.*2521del)
c.2027del
c.*924del (n.*924del)
c.2434del
c.2455del (p.Ile819Ter)
c.*1918del (n.*1918del)
c.*1041del (n.*1041del)
c.1428del
c.2332del (p.Ile778Ter)
c.2443del (p.Ile815Ter)
c.2497del (p.Ile833Ter)
c.16del (p.Ile6Ter)
c.2386del (p.Ile796Ter)
n.582+6016del
c.2071del (p.Ile691Ter)
c.2068del (p.Ile690Ter)
n.2859del
n.2694del
n.601-2819del
n.475+7904del
n.600+6016del
 ClinVar
3g.193662905A>CCA355793199OPA1c.2604A>C (p.Glu868Asp)
c.2439A>C (p.Glu813Asp)
c.2550A>C (p.Glu850Asp)
c.2493A>C (p.Glu831Asp)
c.2378A>C
c.*664A>C (n.*664A>C)
c.2121A>C (p.Glu707Asp)
c.*2520A>C (n.*2520A>C)
c.2026A>C
c.*923A>C (n.*923A>C)
c.2433A>C
c.2454A>C (p.Glu818Asp)
c.*1917A>C (n.*1917A>C)
c.*1040A>C (n.*1040A>C)
c.1427A>C
c.2331A>C (p.Glu777Asp)
c.2442A>C (p.Glu814Asp)
c.2496A>C (p.Glu832Asp)
c.15A>C (p.Glu5Asp)
c.2385A>C (p.Glu795Asp)
n.582+6015T>G
c.2070A>C (p.Glu690Asp)
c.2067A>C (p.Glu689Asp)
n.2858A>C
n.2693A>C
n.601-2820T>G
n.475+7903T>G
n.600+6015T>G
3g.193662905A>GCA437441602OPA1c.2604A>G (p.Glu868=)
c.2439A>G (p.Glu813=)
c.2550A>G (p.Glu850=)
c.2493A>G (p.Glu831=)
c.2378A>G
c.*664A>G (n.*664A>G)
c.2121A>G (p.Glu707=)
c.*2520A>G (n.*2520A>G)
c.2026A>G
c.*923A>G (n.*923A>G)
c.2433A>G
c.2454A>G (p.Glu818=)
c.*1917A>G (n.*1917A>G)
c.*1040A>G (n.*1040A>G)
c.1427A>G
c.2331A>G (p.Glu777=)
c.2442A>G (p.Glu814=)
c.2496A>G (p.Glu832=)
c.15A>G (p.Glu5=)
c.2385A>G (p.Glu795=)
n.582+6015T>C
c.2070A>G (p.Glu690=)
c.2067A>G (p.Glu689=)
n.2858A>G
n.2693A>G
n.601-2820T>C
n.475+7903T>C
n.600+6015T>C
 gnomAD v4
3g.193662905A>TCA355793200OPA1c.2604A>T (p.Glu868Asp)
c.2439A>T (p.Glu813Asp)
c.2550A>T (p.Glu850Asp)
c.2493A>T (p.Glu831Asp)
c.2378A>T
c.*664A>T (n.*664A>T)
c.2121A>T (p.Glu707Asp)
c.*2520A>T (n.*2520A>T)
c.2026A>T
c.*923A>T (n.*923A>T)
c.2433A>T
c.2454A>T (p.Glu818Asp)
c.*1917A>T (n.*1917A>T)
c.*1040A>T (n.*1040A>T)
c.1427A>T
c.2331A>T (p.Glu777Asp)
c.2442A>T (p.Glu814Asp)
c.2496A>T (p.Glu832Asp)
c.15A>T (p.Glu5Asp)
c.2385A>T (p.Glu795Asp)
n.582+6015T>A
c.2070A>T (p.Glu690Asp)
c.2067A>T (p.Glu689Asp)
n.2858A>T
n.2693A>T
n.601-2820T>A
n.475+7903T>A
n.600+6015T>A
3g.193662906A=CA1430270674OPA1c.2605A= (p.Ile869=)
c.2440A= (p.Ile814=)
c.2551A= (p.Ile851=)
c.2494A= (p.Ile832=)
c.2379A=
c.*665A= (n.*665A=)
c.2122A= (p.Ile708=)
c.*2521A= (n.*2521A=)
c.2027A=
c.*924A= (n.*924A=)
c.2434A=
c.2455A= (p.Ile819=)
c.*1918A= (n.*1918A=)
c.*1041A= (n.*1041A=)
c.1428A=
c.2332A= (p.Ile778=)
c.2443A= (p.Ile815=)
c.2497A= (p.Ile833=)
c.16A= (p.Ile6=)
c.2386A= (p.Ile796=)
n.582+6014T=
c.2071A= (p.Ile691=)
c.2068A= (p.Ile690=)
n.2859A=
n.2694A=
n.601-2821T=
n.475+7902T=
n.600+6014T=
3g.193662906A>CCA355793201OPA1c.2605A>C (p.Ile869Leu)
c.2440A>C (p.Ile814Leu)
c.2551A>C (p.Ile851Leu)
c.2494A>C (p.Ile832Leu)
c.2379A>C
c.*665A>C (n.*665A>C)
c.2122A>C (p.Ile708Leu)
c.*2521A>C (n.*2521A>C)
c.2027A>C
c.*924A>C (n.*924A>C)
c.2434A>C
c.2455A>C (p.Ile819Leu)
c.*1918A>C (n.*1918A>C)
c.*1041A>C (n.*1041A>C)
c.1428A>C
c.2332A>C (p.Ile778Leu)
c.2443A>C (p.Ile815Leu)
c.2497A>C (p.Ile833Leu)
c.16A>C (p.Ile6Leu)
c.2386A>C (p.Ile796Leu)
n.582+6014T>G
c.2071A>C (p.Ile691Leu)
c.2068A>C (p.Ile690Leu)
n.2859A>C
n.2694A>C
n.601-2821T>G
n.475+7902T>G
n.600+6014T>G
3g.193662906A>GCA2759703OPA1c.2605A>G (p.Ile869Val)
c.2440A>G (p.Ile814Val)
c.2551A>G (p.Ile851Val)
c.2494A>G (p.Ile832Val)
c.2379A>G
c.*665A>G (n.*665A>G)
c.2122A>G (p.Ile708Val)
c.*2521A>G (n.*2521A>G)
c.2027A>G
c.*924A>G (n.*924A>G)
c.2434A>G
c.2455A>G (p.Ile819Val)
c.*1918A>G (n.*1918A>G)
c.*1041A>G (n.*1041A>G)
c.1428A>G
c.2332A>G (p.Ile778Val)
c.2443A>G (p.Ile815Val)
c.2497A>G (p.Ile833Val)
c.16A>G (p.Ile6Val)
c.2386A>G (p.Ile796Val)
n.582+6014T>C
c.2071A>G (p.Ile691Val)
c.2068A>G (p.Ile690Val)
n.2859A>G
n.2694A>G
n.601-2821T>C
n.475+7902T>C
n.600+6014T>C
 dbSNP ExAC
3g.193662906A>TCA355793202OPA1c.2605A>T (p.Ile869Leu)
c.2440A>T (p.Ile814Leu)
c.2551A>T (p.Ile851Leu)
c.2494A>T (p.Ile832Leu)
c.2379A>T
c.*665A>T (n.*665A>T)
c.2122A>T (p.Ile708Leu)
c.*2521A>T (n.*2521A>T)
c.2027A>T
c.*924A>T (n.*924A>T)
c.2434A>T
c.2455A>T (p.Ile819Leu)
c.*1918A>T (n.*1918A>T)
c.*1041A>T (n.*1041A>T)
c.1428A>T
c.2332A>T (p.Ile778Leu)
c.2443A>T (p.Ile815Leu)
c.2497A>T (p.Ile833Leu)
c.16A>T (p.Ile6Leu)
c.2386A>T (p.Ile796Leu)
n.582+6014T>A
c.2071A>T (p.Ile691Leu)
c.2068A>T (p.Ile690Leu)
n.2859A>T
n.2694A>T
n.601-2821T>A
n.475+7902T>A
n.600+6014T>A
3g.193662907T>ACA355793204OPA1c.2606T>A (p.Ile869Lys)
c.2441T>A (p.Ile814Lys)
c.2552T>A (p.Ile851Lys)
c.2495T>A (p.Ile832Lys)
c.2380T>A
c.*666T>A (n.*666T>A)
c.2123T>A (p.Ile708Lys)
c.*2522T>A (n.*2522T>A)
c.2028T>A
c.*925T>A (n.*925T>A)
c.2435T>A
c.2456T>A (p.Ile819Lys)
c.*1919T>A (n.*1919T>A)
c.*1042T>A (n.*1042T>A)
c.1429T>A
c.2333T>A (p.Ile778Lys)
c.2444T>A (p.Ile815Lys)
c.2498T>A (p.Ile833Lys)
c.17T>A (p.Ile6Lys)
c.2387T>A (p.Ile796Lys)
n.582+6013A>T
c.2072T>A (p.Ile691Lys)
c.2069T>A (p.Ile690Lys)
n.2860T>A
n.2695T>A
n.601-2822A>T
n.475+7901A>T
n.600+6013A>T
3g.193662907T>CCA355793205OPA1c.2606T>C (p.Ile869Thr)
c.2441T>C (p.Ile814Thr)
c.2552T>C (p.Ile851Thr)
c.2495T>C (p.Ile832Thr)
c.2380T>C
c.*666T>C (n.*666T>C)
c.2123T>C (p.Ile708Thr)
c.*2522T>C (n.*2522T>C)
c.2028T>C
c.*925T>C (n.*925T>C)
c.2435T>C
c.2456T>C (p.Ile819Thr)
c.*1919T>C (n.*1919T>C)
c.*1042T>C (n.*1042T>C)
c.1429T>C
c.2333T>C (p.Ile778Thr)
c.2444T>C (p.Ile815Thr)
c.2498T>C (p.Ile833Thr)
c.17T>C (p.Ile6Thr)
c.2387T>C (p.Ile796Thr)
n.582+6013A>G
c.2072T>C (p.Ile691Thr)
c.2069T>C (p.Ile690Thr)
n.2860T>C
n.2695T>C
n.601-2822A>G
n.475+7901A>G
n.600+6013A>G
3g.193662907T>GCA355793203OPA1c.2606T>G (p.Ile869Arg)
c.2441T>G (p.Ile814Arg)
c.2552T>G (p.Ile851Arg)
c.2495T>G (p.Ile832Arg)
c.2380T>G
c.*666T>G (n.*666T>G)
c.2123T>G (p.Ile708Arg)
c.*2522T>G (n.*2522T>G)
c.2028T>G
c.*925T>G (n.*925T>G)
c.2435T>G
c.2456T>G (p.Ile819Arg)
c.*1919T>G (n.*1919T>G)
c.*1042T>G (n.*1042T>G)
c.1429T>G
c.2333T>G (p.Ile778Arg)
c.2444T>G (p.Ile815Arg)
c.2498T>G (p.Ile833Arg)
c.17T>G (p.Ile6Arg)
c.2387T>G (p.Ile796Arg)
n.582+6013A>C
c.2072T>G (p.Ile691Arg)
c.2069T>G (p.Ile690Arg)
n.2860T>G
n.2695T>G
n.601-2822A>C
n.475+7901A>C
n.600+6013A>C
3g.193662908A>CCA437441604OPA1c.2607A>C (p.Ile869=)
c.2442A>C (p.Ile814=)
c.2553A>C (p.Ile851=)
c.2496A>C (p.Ile832=)
c.2381A>C
c.*667A>C (n.*667A>C)
c.2124A>C (p.Ile708=)
c.*2523A>C (n.*2523A>C)
c.2029A>C
c.*926A>C (n.*926A>C)
c.2436A>C
c.2457A>C (p.Ile819=)
c.*1920A>C (n.*1920A>C)
c.*1043A>C (n.*1043A>C)
c.1430A>C
c.2334A>C (p.Ile778=)
c.2445A>C (p.Ile815=)
c.2499A>C (p.Ile833=)
c.18A>C (p.Ile6=)
c.2388A>C (p.Ile796=)
n.582+6012T>G
c.2073A>C (p.Ile691=)
c.2070A>C (p.Ile690=)
n.2861A>C
n.2696A>C
n.601-2823T>G
n.475+7900T>G
n.600+6012T>G
3g.193662908A>GCA355793206OPA1c.2607A>G (p.Ile869Met)
c.2442A>G (p.Ile814Met)
c.2553A>G (p.Ile851Met)
c.2496A>G (p.Ile832Met)
c.2381A>G
c.*667A>G (n.*667A>G)
c.2124A>G (p.Ile708Met)
c.*2523A>G (n.*2523A>G)
c.2029A>G
c.*926A>G (n.*926A>G)
c.2436A>G
c.2457A>G (p.Ile819Met)
c.*1920A>G (n.*1920A>G)
c.*1043A>G (n.*1043A>G)
c.1430A>G
c.2334A>G (p.Ile778Met)
c.2445A>G (p.Ile815Met)
c.2499A>G (p.Ile833Met)
c.18A>G (p.Ile6Met)
c.2388A>G (p.Ile796Met)
n.582+6012T>C
c.2073A>G (p.Ile691Met)
c.2070A>G (p.Ile690Met)
n.2861A>G
n.2696A>G
n.601-2823T>C
n.475+7900T>C
n.600+6012T>C
3g.193662908A>TCA437441605OPA1c.2607A>T (p.Ile869=)
c.2442A>T (p.Ile814=)
c.2553A>T (p.Ile851=)
c.2496A>T (p.Ile832=)
c.2381A>T
c.*667A>T (n.*667A>T)
c.2124A>T (p.Ile708=)
c.*2523A>T (n.*2523A>T)
c.2029A>T
c.*926A>T (n.*926A>T)
c.2436A>T
c.2457A>T (p.Ile819=)
c.*1920A>T (n.*1920A>T)
c.*1043A>T (n.*1043A>T)
c.1430A>T
c.2334A>T (p.Ile778=)
c.2445A>T (p.Ile815=)
c.2499A>T (p.Ile833=)
c.18A>T (p.Ile6=)
c.2388A>T (p.Ile796=)
n.582+6012T>A
c.2073A>T (p.Ile691=)
c.2070A>T (p.Ile690=)
n.2861A>T
n.2696A>T
n.601-2823T>A
n.475+7900T>A
n.600+6012T>A
3g.193662909A>CCA355793207OPA1c.2608A>C (p.Thr870Pro)
c.2443A>C (p.Thr815Pro)
c.2554A>C (p.Thr852Pro)
c.2497A>C (p.Thr833Pro)
c.2382A>C
c.*668A>C (n.*668A>C)
c.2125A>C (p.Thr709Pro)
c.*2524A>C (n.*2524A>C)
c.2030A>C
c.*927A>C (n.*927A>C)
c.2437A>C
c.2458A>C (p.Thr820Pro)
c.*1921A>C (n.*1921A>C)
c.*1044A>C (n.*1044A>C)
c.1431A>C
c.2335A>C (p.Thr779Pro)
c.2446A>C (p.Thr816Pro)
c.2500A>C (p.Thr834Pro)
c.19A>C (p.Thr7Pro)
c.2389A>C (p.Thr797Pro)
n.582+6011T>G
c.2074A>C (p.Thr692Pro)
c.2071A>C (p.Thr691Pro)
n.2862A>C
n.2697A>C
n.601-2824T>G
n.475+7899T>G
n.600+6011T>G
3g.193662909A>GCA355793208OPA1c.2608A>G (p.Thr870Ala)
c.2443A>G (p.Thr815Ala)
c.2554A>G (p.Thr852Ala)
c.2497A>G (p.Thr833Ala)
c.2382A>G
c.*668A>G (n.*668A>G)
c.2125A>G (p.Thr709Ala)
c.*2524A>G (n.*2524A>G)
c.2030A>G
c.*927A>G (n.*927A>G)
c.2437A>G
c.2458A>G (p.Thr820Ala)
c.*1921A>G (n.*1921A>G)
c.*1044A>G (n.*1044A>G)
c.1431A>G
c.2335A>G (p.Thr779Ala)
c.2446A>G (p.Thr816Ala)
c.2500A>G (p.Thr834Ala)
c.19A>G (p.Thr7Ala)
c.2389A>G (p.Thr797Ala)
n.582+6011T>C
c.2074A>G (p.Thr692Ala)
c.2071A>G (p.Thr691Ala)
n.2862A>G
n.2697A>G
n.601-2824T>C
n.475+7899T>C
n.600+6011T>C
3g.193662909A>TCA355793209OPA1c.2608A>T (p.Thr870Ser)
c.2443A>T (p.Thr815Ser)
c.2554A>T (p.Thr852Ser)
c.2497A>T (p.Thr833Ser)
c.2382A>T
c.*668A>T (n.*668A>T)
c.2125A>T (p.Thr709Ser)
c.*2524A>T (n.*2524A>T)
c.2030A>T
c.*927A>T (n.*927A>T)
c.2437A>T
c.2458A>T (p.Thr820Ser)
c.*1921A>T (n.*1921A>T)
c.*1044A>T (n.*1044A>T)
c.1431A>T
c.2335A>T (p.Thr779Ser)
c.2446A>T (p.Thr816Ser)
c.2500A>T (p.Thr834Ser)
c.19A>T (p.Thr7Ser)
c.2389A>T (p.Thr797Ser)
n.582+6011T>A
c.2074A>T (p.Thr692Ser)
c.2071A>T (p.Thr691Ser)
n.2862A>T
n.2697A>T
n.601-2824T>A
n.475+7899T>A
n.600+6011T>A
3g.193662910C>ACA355793210OPA1c.2609C>A (p.Thr870Asn)
c.2444C>A (p.Thr815Asn)
c.2555C>A (p.Thr852Asn)
c.2498C>A (p.Thr833Asn)
c.2383C>A
c.*669C>A (n.*669C>A)
c.2126C>A (p.Thr709Asn)
c.*2525C>A (n.*2525C>A)
c.2031C>A
c.*928C>A (n.*928C>A)
c.2438C>A
c.2459C>A (p.Thr820Asn)
c.*1922C>A (n.*1922C>A)
c.*1045C>A (n.*1045C>A)
c.1432C>A
c.2336C>A (p.Thr779Asn)
c.2447C>A (p.Thr816Asn)
c.2501C>A (p.Thr834Asn)
c.20C>A (p.Thr7Asn)
c.2390C>A (p.Thr797Asn)
n.582+6010G>T
c.2075C>A (p.Thr692Asn)
c.2072C>A (p.Thr691Asn)
n.2863C>A
n.2698C>A
n.601-2825G>T
n.475+7898G>T
n.600+6010G>T
3g.193662910C>GCA355793211OPA1c.2609C>G (p.Thr870Ser)
c.2444C>G (p.Thr815Ser)
c.2555C>G (p.Thr852Ser)
c.2498C>G (p.Thr833Ser)
c.2383C>G
c.*669C>G (n.*669C>G)
c.2126C>G (p.Thr709Ser)
c.*2525C>G (n.*2525C>G)
c.2031C>G
c.*928C>G (n.*928C>G)
c.2438C>G
c.2459C>G (p.Thr820Ser)
c.*1922C>G (n.*1922C>G)
c.*1045C>G (n.*1045C>G)
c.1432C>G
c.2336C>G (p.Thr779Ser)
c.2447C>G (p.Thr816Ser)
c.2501C>G (p.Thr834Ser)
c.20C>G (p.Thr7Ser)
c.2390C>G (p.Thr797Ser)
n.582+6010G>C
c.2075C>G (p.Thr692Ser)
c.2072C>G (p.Thr691Ser)
n.2863C>G
n.2698C>G
n.601-2825G>C
n.475+7898G>C
n.600+6010G>C
3g.193662910C>TCA355793212OPA1c.2609C>T (p.Thr870Ile)
c.2444C>T (p.Thr815Ile)
c.2555C>T (p.Thr852Ile)
c.2498C>T (p.Thr833Ile)
c.2383C>T
c.*669C>T (n.*669C>T)
c.2126C>T (p.Thr709Ile)
c.*2525C>T (n.*2525C>T)
c.2031C>T
c.*928C>T (n.*928C>T)
c.2438C>T
c.2459C>T (p.Thr820Ile)
c.*1922C>T (n.*1922C>T)
c.*1045C>T (n.*1045C>T)
c.1432C>T
c.2336C>T (p.Thr779Ile)
c.2447C>T (p.Thr816Ile)
c.2501C>T (p.Thr834Ile)
c.20C>T (p.Thr7Ile)
c.2390C>T (p.Thr797Ile)
n.582+6010G>A
c.2075C>T (p.Thr692Ile)
c.2072C>T (p.Thr691Ile)
n.2863C>T
n.2698C>T
n.601-2825G>A
n.475+7898G>A
n.600+6010G>A
3g.193662911C>ACA437441608OPA1c.2610C>A (p.Thr870=)
c.2445C>A (p.Thr815=)
c.2556C>A (p.Thr852=)
c.2499C>A (p.Thr833=)
c.2384C>A
c.*670C>A (n.*670C>A)
c.2127C>A (p.Thr709=)
c.*2526C>A (n.*2526C>A)
c.2032C>A
c.*929C>A (n.*929C>A)
c.2439C>A
c.2460C>A (p.Thr820=)
c.*1923C>A (n.*1923C>A)
c.*1046C>A (n.*1046C>A)
c.1433C>A
c.2337C>A (p.Thr779=)
c.2448C>A (p.Thr816=)
c.2502C>A (p.Thr834=)
c.21C>A (p.Thr7=)
c.2391C>A (p.Thr797=)
n.582+6009G>T
c.2076C>A (p.Thr692=)
c.2073C>A (p.Thr691=)
n.2864C>A
n.2699C>A
n.601-2826G>T
n.475+7897G>T
n.600+6009G>T
3g.193662911C=CA1430270680OPA1c.2610C= (p.Thr870=)
c.2445C= (p.Thr815=)
c.2556C= (p.Thr852=)
c.2499C= (p.Thr833=)
c.2384C=
c.*670C= (n.*670C=)
c.2127C= (p.Thr709=)
c.*2526C= (n.*2526C=)
c.2032C=
c.*929C= (n.*929C=)
c.2439C=
c.2460C= (p.Thr820=)
c.*1923C= (n.*1923C=)
c.*1046C= (n.*1046C=)
c.1433C=
c.2337C= (p.Thr779=)
c.2448C= (p.Thr816=)
c.2502C= (p.Thr834=)
c.21C= (p.Thr7=)
c.2391C= (p.Thr797=)
n.582+6009G=
c.2076C= (p.Thr692=)
c.2073C= (p.Thr691=)
n.2864C=
n.2699C=
n.601-2826G=
n.475+7897G=
n.600+6009G=
3g.193662911C>GCA437441607OPA1c.2610C>G (p.Thr870=)
c.2445C>G (p.Thr815=)
c.2556C>G (p.Thr852=)
c.2499C>G (p.Thr833=)
c.2384C>G
c.*670C>G (n.*670C>G)
c.2127C>G (p.Thr709=)
c.*2526C>G (n.*2526C>G)
c.2032C>G
c.*929C>G (n.*929C>G)
c.2439C>G
c.2460C>G (p.Thr820=)
c.*1923C>G (n.*1923C>G)
c.*1046C>G (n.*1046C>G)
c.1433C>G
c.2337C>G (p.Thr779=)
c.2448C>G (p.Thr816=)
c.2502C>G (p.Thr834=)
c.21C>G (p.Thr7=)
c.2391C>G (p.Thr797=)
n.582+6009G>C
c.2076C>G (p.Thr692=)
c.2073C>G (p.Thr691=)
n.2864C>G
n.2699C>G
n.601-2826G>C
n.475+7897G>C
n.600+6009G>C
 gnomAD v4
3g.193662911C>TCA2759704OPA1c.2610C>T (p.Thr870=)
c.2445C>T (p.Thr815=)
c.2556C>T (p.Thr852=)
c.2499C>T (p.Thr833=)
c.2384C>T
c.*670C>T (n.*670C>T)
c.2127C>T (p.Thr709=)
c.*2526C>T (n.*2526C>T)
c.2032C>T
c.*929C>T (n.*929C>T)
c.2439C>T
c.2460C>T (p.Thr820=)
c.*1923C>T (n.*1923C>T)
c.*1046C>T (n.*1046C>T)
c.1433C>T
c.2337C>T (p.Thr779=)
c.2448C>T (p.Thr816=)
c.2502C>T (p.Thr834=)
c.21C>T (p.Thr7=)
c.2391C>T (p.Thr797=)
n.582+6009G>A
c.2076C>T (p.Thr692=)
c.2073C>T (p.Thr691=)
n.2864C>T
n.2699C>T
n.601-2826G>A
n.475+7897G>A
n.600+6009G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.193662912A>CCA355793213OPA1c.2611A>C (p.Thr871Pro)
c.2446A>C (p.Thr816Pro)
c.2557A>C (p.Thr853Pro)
c.2500A>C (p.Thr834Pro)
c.2385A>C
c.*671A>C (n.*671A>C)
c.2128A>C (p.Thr710Pro)
c.*2527A>C (n.*2527A>C)
c.2033A>C
c.*930A>C (n.*930A>C)
c.2440A>C
c.2461A>C (p.Thr821Pro)
c.*1924A>C (n.*1924A>C)
c.*1047A>C (n.*1047A>C)
c.1434A>C
c.2338A>C (p.Thr780Pro)
c.2449A>C (p.Thr817Pro)
c.2503A>C (p.Thr835Pro)
c.22A>C (p.Thr8Pro)
c.2392A>C (p.Thr798Pro)
n.582+6008T>G
c.2077A>C (p.Thr693Pro)
c.2074A>C (p.Thr692Pro)
n.2865A>C
n.2700A>C
n.601-2827T>G
n.475+7896T>G
n.600+6008T>G
3g.193662912A>GCA355793214OPA1c.2611A>G (p.Thr871Ala)
c.2446A>G (p.Thr816Ala)
c.2557A>G (p.Thr853Ala)
c.2500A>G (p.Thr834Ala)
c.2385A>G
c.*671A>G (n.*671A>G)
c.2128A>G (p.Thr710Ala)
c.*2527A>G (n.*2527A>G)
c.2033A>G
c.*930A>G (n.*930A>G)
c.2440A>G
c.2461A>G (p.Thr821Ala)
c.*1924A>G (n.*1924A>G)
c.*1047A>G (n.*1047A>G)
c.1434A>G
c.2338A>G (p.Thr780Ala)
c.2449A>G (p.Thr817Ala)
c.2503A>G (p.Thr835Ala)
c.22A>G (p.Thr8Ala)
c.2392A>G (p.Thr798Ala)
n.582+6008T>C
c.2077A>G (p.Thr693Ala)
c.2074A>G (p.Thr692Ala)
n.2865A>G
n.2700A>G
n.601-2827T>C
n.475+7896T>C
n.600+6008T>C
3g.193662912A>TCA355793215OPA1c.2611A>T (p.Thr871Ser)
c.2446A>T (p.Thr816Ser)
c.2557A>T (p.Thr853Ser)
c.2500A>T (p.Thr834Ser)
c.2385A>T
c.*671A>T (n.*671A>T)
c.2128A>T (p.Thr710Ser)
c.*2527A>T (n.*2527A>T)
c.2033A>T
c.*930A>T (n.*930A>T)
c.2440A>T
c.2461A>T (p.Thr821Ser)
c.*1924A>T (n.*1924A>T)
c.*1047A>T (n.*1047A>T)
c.1434A>T
c.2338A>T (p.Thr780Ser)
c.2449A>T (p.Thr817Ser)
c.2503A>T (p.Thr835Ser)
c.22A>T (p.Thr8Ser)
c.2392A>T (p.Thr798Ser)
n.582+6008T>A
c.2077A>T (p.Thr693Ser)
c.2074A>T (p.Thr692Ser)
n.2865A>T
n.2700A>T
n.601-2827T>A
n.475+7896T>A
n.600+6008T>A
3g.193662912_193662914delCA2704977627OPA1c.2611_2613del (p.Thr871del)
c.2446_2448del (p.Thr816del)
c.2557_2559del (p.Thr853del)
c.2500_2502del (p.Thr834del)
c.2385_2387del
c.*671_*673del (n.*671_*673del)
c.2128_2130del (p.Thr710del)
c.*2527_*2529del (n.*2527_*2529del)
c.2033_2035del
c.*930_*932del (n.*930_*932del)
c.2440_2442del
c.2461_2463del (p.Thr821del)
c.*1924_*1926del (n.*1924_*1926del)
c.*1047_*1049del (n.*1047_*1049del)
c.1434_1436del
c.2338_2340del (p.Thr780del)
c.2449_2451del (p.Thr817del)
c.2503_2505del (p.Thr835del)
c.22_24del (p.Thr8del)
c.2392_2394del (p.Thr798del)
n.582+6006_582+6008del
c.2077_2079del (p.Thr693del)
c.2074_2076del (p.Thr692del)
n.2865_2867del
n.2700_2702del
n.601-2829_601-2827del
n.475+7894_475+7896del
n.600+6006_600+6008del
 dbSNP
3g.193662913C>ACA355793216OPA1c.2612C>A (p.Thr871Lys)
c.2447C>A (p.Thr816Lys)
c.2558C>A (p.Thr853Lys)
c.2501C>A (p.Thr834Lys)
c.2386C>A
c.*672C>A (n.*672C>A)
c.2129C>A (p.Thr710Lys)
c.*2528C>A (n.*2528C>A)
c.2034C>A
c.*931C>A (n.*931C>A)
c.2441C>A
c.2462C>A (p.Thr821Lys)
c.*1925C>A (n.*1925C>A)
c.*1048C>A (n.*1048C>A)
c.1435C>A
c.2339C>A (p.Thr780Lys)
c.2450C>A (p.Thr817Lys)
c.2504C>A (p.Thr835Lys)
c.23C>A (p.Thr8Lys)
c.2393C>A (p.Thr798Lys)
n.582+6007G>T
c.2078C>A (p.Thr693Lys)
c.2075C>A (p.Thr692Lys)
n.2866C>A
n.2701C>A
n.601-2828G>T
n.475+7895G>T
n.600+6007G>T
3g.193662913C>GCA355793217OPA1c.2612C>G (p.Thr871Arg)
c.2447C>G (p.Thr816Arg)
c.2558C>G (p.Thr853Arg)
c.2501C>G (p.Thr834Arg)
c.2386C>G
c.*672C>G (n.*672C>G)
c.2129C>G (p.Thr710Arg)
c.*2528C>G (n.*2528C>G)
c.2034C>G
c.*931C>G (n.*931C>G)
c.2441C>G
c.2462C>G (p.Thr821Arg)
c.*1925C>G (n.*1925C>G)
c.*1048C>G (n.*1048C>G)
c.1435C>G
c.2339C>G (p.Thr780Arg)
c.2450C>G (p.Thr817Arg)
c.2504C>G (p.Thr835Arg)
c.23C>G (p.Thr8Arg)
c.2393C>G (p.Thr798Arg)
n.582+6007G>C
c.2078C>G (p.Thr693Arg)
c.2075C>G (p.Thr692Arg)
n.2866C>G
n.2701C>G
n.601-2828G>C
n.475+7895G>C
n.600+6007G>C
3g.193662913C>TCA355793218OPA1c.2612C>T (p.Thr871Ile)
c.2447C>T (p.Thr816Ile)
c.2558C>T (p.Thr853Ile)
c.2501C>T (p.Thr834Ile)
c.2386C>T
c.*672C>T (n.*672C>T)
c.2129C>T (p.Thr710Ile)
c.*2528C>T (n.*2528C>T)
c.2034C>T
c.*931C>T (n.*931C>T)
c.2441C>T
c.2462C>T (p.Thr821Ile)
c.*1925C>T (n.*1925C>T)
c.*1048C>T (n.*1048C>T)
c.1435C>T
c.2339C>T (p.Thr780Ile)
c.2450C>T (p.Thr817Ile)
c.2504C>T (p.Thr835Ile)
c.23C>T (p.Thr8Ile)
c.2393C>T (p.Thr798Ile)
n.582+6007G>A
c.2078C>T (p.Thr693Ile)
c.2075C>T (p.Thr692Ile)
n.2866C>T
n.2701C>T
n.601-2828G>A
n.475+7895G>A
n.600+6007G>A
3g.193662914A=CA1430270685OPA1c.2613A= (p.Thr871=)
c.2448A= (p.Thr816=)
c.2559A= (p.Thr853=)
c.2502A= (p.Thr834=)
c.2387A=
c.*673A= (n.*673A=)
c.2130A= (p.Thr710=)
c.*2529A= (n.*2529A=)
c.2035A=
c.*932A= (n.*932A=)
c.2442A=
c.2463A= (p.Thr821=)
c.*1926A= (n.*1926A=)
c.*1049A= (n.*1049A=)
c.1436A=
c.2340A= (p.Thr780=)
c.2451A= (p.Thr817=)
c.2505A= (p.Thr835=)
c.24A= (p.Thr8=)
c.2394A= (p.Thr798=)
n.582+6006T=
c.2079A= (p.Thr693=)
c.2076A= (p.Thr692=)
n.2867A=
n.2702A=
n.601-2829T=
n.475+7894T=
n.600+6006T=
3g.193662914A>CCA437441612OPA1c.2613A>C (p.Thr871=)
c.2448A>C (p.Thr816=)
c.2559A>C (p.Thr853=)
c.2502A>C (p.Thr834=)
c.2387A>C
c.*673A>C (n.*673A>C)
c.2130A>C (p.Thr710=)
c.*2529A>C (n.*2529A>C)
c.2035A>C
c.*932A>C (n.*932A>C)
c.2442A>C
c.2463A>C (p.Thr821=)
c.*1926A>C (n.*1926A>C)
c.*1049A>C (n.*1049A>C)
c.1436A>C
c.2340A>C (p.Thr780=)
c.2451A>C (p.Thr817=)
c.2505A>C (p.Thr835=)
c.24A>C (p.Thr8=)
c.2394A>C (p.Thr798=)
n.582+6006T>G
c.2079A>C (p.Thr693=)
c.2076A>C (p.Thr692=)
n.2867A>C
n.2702A>C
n.601-2829T>G
n.475+7894T>G
n.600+6006T>G
3g.193662914A>GCA437441613OPA1c.2613A>G (p.Thr871=)
c.2448A>G (p.Thr816=)
c.2559A>G (p.Thr853=)
c.2502A>G (p.Thr834=)
c.2387A>G
c.*673A>G (n.*673A>G)
c.2130A>G (p.Thr710=)
c.*2529A>G (n.*2529A>G)
c.2035A>G
c.*932A>G (n.*932A>G)
c.2442A>G
c.2463A>G (p.Thr821=)
c.*1926A>G (n.*1926A>G)
c.*1049A>G (n.*1049A>G)
c.1436A>G
c.2340A>G (p.Thr780=)
c.2451A>G (p.Thr817=)
c.2505A>G (p.Thr835=)
c.24A>G (p.Thr8=)
c.2394A>G (p.Thr798=)
n.582+6006T>C
c.2079A>G (p.Thr693=)
c.2076A>G (p.Thr692=)
n.2867A>G
n.2702A>G
n.601-2829T>C
n.475+7894T>C
n.600+6006T>C
 ClinVar gnomAD v4
3g.193662914A>TCA2759705OPA1c.2613A>T (p.Thr871=)
c.2448A>T (p.Thr816=)
c.2559A>T (p.Thr853=)
c.2502A>T (p.Thr834=)
c.2387A>T
c.*673A>T (n.*673A>T)
c.2130A>T (p.Thr710=)
c.*2529A>T (n.*2529A>T)
c.2035A>T
c.*932A>T (n.*932A>T)
c.2442A>T
c.2463A>T (p.Thr821=)
c.*1926A>T (n.*1926A>T)
c.*1049A>T (n.*1049A>T)
c.1436A>T
c.2340A>T (p.Thr780=)
c.2451A>T (p.Thr817=)
c.2505A>T (p.Thr835=)
c.24A>T (p.Thr8=)
c.2394A>T (p.Thr798=)
n.582+6006T>A
c.2079A>T (p.Thr693=)
c.2076A>T (p.Thr692=)
n.2867A>T
n.2702A>T
n.601-2829T>A
n.475+7894T>A
n.600+6006T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.193662915G>ACA355793219OPA1c.2614G>A (p.Val872Ile)
c.2449G>A (p.Val817Ile)
c.2560G>A (p.Val854Ile)
c.2503G>A (p.Val835Ile)
c.2388G>A
c.*674G>A (n.*674G>A)
c.2131G>A (p.Val711Ile)
c.*2530G>A (n.*2530G>A)
c.2036G>A
c.*933G>A (n.*933G>A)
c.2443G>A
c.2464G>A (p.Val822Ile)
c.*1927G>A (n.*1927G>A)
c.*1050G>A (n.*1050G>A)
c.1437G>A
c.2341G>A (p.Val781Ile)
c.2452G>A (p.Val818Ile)
c.2506G>A (p.Val836Ile)
c.25G>A (p.Val9Ile)
c.2395G>A (p.Val799Ile)
n.582+6005C>T
c.2080G>A (p.Val694Ile)
c.2077G>A (p.Val693Ile)
n.2868G>A
n.2703G>A
n.601-2830C>T
n.475+7893C>T
n.600+6005C>T
 dbSNP gnomAD v3 gnomAD v4
3g.193662915G>CCA355793220OPA1c.2614G>C (p.Val872Leu)
c.2449G>C (p.Val817Leu)
c.2560G>C (p.Val854Leu)
c.2503G>C (p.Val835Leu)
c.2388G>C
c.*674G>C (n.*674G>C)
c.2131G>C (p.Val711Leu)
c.*2530G>C (n.*2530G>C)
c.2036G>C
c.*933G>C (n.*933G>C)
c.2443G>C
c.2464G>C (p.Val822Leu)
c.*1927G>C (n.*1927G>C)
c.*1050G>C (n.*1050G>C)
c.1437G>C
c.2341G>C (p.Val781Leu)
c.2452G>C (p.Val818Leu)
c.2506G>C (p.Val836Leu)
c.25G>C (p.Val9Leu)
c.2395G>C (p.Val799Leu)
n.582+6005C>G
c.2080G>C (p.Val694Leu)
c.2077G>C (p.Val693Leu)
n.2868G>C
n.2703G>C
n.601-2830C>G
n.475+7893C>G
n.600+6005C>G
3g.193662915G=CA1430270687OPA1c.2614G= (p.Val872=)
c.2449G= (p.Val817=)
c.2560G= (p.Val854=)
c.2503G= (p.Val835=)
c.2388G=
c.*674G= (n.*674G=)
c.2131G= (p.Val711=)
c.*2530G= (n.*2530G=)
c.2036G=
c.*933G= (n.*933G=)
c.2443G=
c.2464G= (p.Val822=)
c.*1927G= (n.*1927G=)
c.*1050G= (n.*1050G=)
c.1437G=
c.2341G= (p.Val781=)
c.2452G= (p.Val818=)
c.2506G= (p.Val836=)
c.25G= (p.Val9=)
c.2395G= (p.Val799=)
n.582+6005C=
c.2080G= (p.Val694=)
c.2077G= (p.Val693=)
n.2868G=
n.2703G=
n.601-2830C=
n.475+7893C=
n.600+6005C=
3g.193662915G>TCA355793221OPA1c.2614G>T (p.Val872Phe)
c.2449G>T (p.Val817Phe)
c.2560G>T (p.Val854Phe)
c.2503G>T (p.Val835Phe)
c.2388G>T
c.*674G>T (n.*674G>T)
c.2131G>T (p.Val711Phe)
c.*2530G>T (n.*2530G>T)
c.2036G>T
c.*933G>T (n.*933G>T)
c.2443G>T
c.2464G>T (p.Val822Phe)
c.*1927G>T (n.*1927G>T)
c.*1050G>T (n.*1050G>T)
c.1437G>T
c.2341G>T (p.Val781Phe)
c.2452G>T (p.Val818Phe)
c.2506G>T (p.Val836Phe)
c.25G>T (p.Val9Phe)
c.2395G>T (p.Val799Phe)
n.582+6005C>A
c.2080G>T (p.Val694Phe)
c.2077G>T (p.Val693Phe)
n.2868G>T
n.2703G>T
n.601-2830C>A
n.475+7893C>A
n.600+6005C>A
3g.193662916T>ACA355793222OPA1c.2615T>A (p.Val872Asp)
c.2450T>A (p.Val817Asp)
c.2561T>A (p.Val854Asp)
c.2504T>A (p.Val835Asp)
c.2389T>A
c.*675T>A (n.*675T>A)
c.2132T>A (p.Val711Asp)
c.*2531T>A (n.*2531T>A)
c.2037T>A
c.*934T>A (n.*934T>A)
c.2444T>A
c.2465T>A (p.Val822Asp)
c.*1928T>A (n.*1928T>A)
c.*1051T>A (n.*1051T>A)
c.1438T>A
c.2342T>A (p.Val781Asp)
c.2453T>A (p.Val818Asp)
c.2507T>A (p.Val836Asp)
c.26T>A (p.Val9Asp)
c.2396T>A (p.Val799Asp)
n.582+6004A>T
c.2081T>A (p.Val694Asp)
c.2078T>A (p.Val693Asp)
n.2869T>A
n.2704T>A
n.601-2831A>T
n.475+7892A>T
n.600+6004A>T
3g.193662916T>CCA355793223OPA1c.2615T>C (p.Val872Ala)
c.2450T>C (p.Val817Ala)
c.2561T>C (p.Val854Ala)
c.2504T>C (p.Val835Ala)
c.2389T>C
c.*675T>C (n.*675T>C)
c.2132T>C (p.Val711Ala)
c.*2531T>C (n.*2531T>C)
c.2037T>C
c.*934T>C (n.*934T>C)
c.2444T>C
c.2465T>C (p.Val822Ala)
c.*1928T>C (n.*1928T>C)
c.*1051T>C (n.*1051T>C)
c.1438T>C
c.2342T>C (p.Val781Ala)
c.2453T>C (p.Val818Ala)
c.2507T>C (p.Val836Ala)
c.26T>C (p.Val9Ala)
c.2396T>C (p.Val799Ala)
n.582+6004A>G
c.2081T>C (p.Val694Ala)
c.2078T>C (p.Val693Ala)
n.2869T>C
n.2704T>C
n.601-2831A>G
n.475+7892A>G
n.600+6004A>G
3g.193662916T>GCA355793224OPA1c.2615T>G (p.Val872Gly)
c.2450T>G (p.Val817Gly)
c.2561T>G (p.Val854Gly)
c.2504T>G (p.Val835Gly)
c.2389T>G
c.*675T>G (n.*675T>G)
c.2132T>G (p.Val711Gly)
c.*2531T>G (n.*2531T>G)
c.2037T>G
c.*934T>G (n.*934T>G)
c.2444T>G
c.2465T>G (p.Val822Gly)
c.*1928T>G (n.*1928T>G)
c.*1051T>G (n.*1051T>G)
c.1438T>G
c.2342T>G (p.Val781Gly)
c.2453T>G (p.Val818Gly)
c.2507T>G (p.Val836Gly)
c.26T>G (p.Val9Gly)
c.2396T>G (p.Val799Gly)
n.582+6004A>C
c.2081T>G (p.Val694Gly)
c.2078T>G (p.Val693Gly)
n.2869T>G
n.2704T>G
n.601-2831A>C
n.475+7892A>C
n.600+6004A>C
3g.193662917C>ACA437441617OPA1c.2616C>A (p.Val872=)
c.2451C>A (p.Val817=)
c.2562C>A (p.Val854=)
c.2505C>A (p.Val835=)
c.2390C>A
c.*676C>A (n.*676C>A)
c.2133C>A (p.Val711=)
c.*2532C>A (n.*2532C>A)
c.2038C>A
c.*935C>A (n.*935C>A)
c.2445C>A
c.2466C>A (p.Val822=)
c.*1929C>A (n.*1929C>A)
c.*1052C>A (n.*1052C>A)
c.1439C>A
c.2343C>A (p.Val781=)
c.2454C>A (p.Val818=)
c.2508C>A (p.Val836=)
c.27C>A (p.Val9=)
c.2397C>A (p.Val799=)
n.582+6003G>T
c.2082C>A (p.Val694=)
c.2079C>A (p.Val693=)
n.2870C>A
n.2705C>A
n.601-2832G>T
n.475+7891G>T
n.600+6003G>T
3g.193662917C>GCA437441618OPA1c.2616C>G (p.Val872=)
c.2451C>G (p.Val817=)
c.2562C>G (p.Val854=)
c.2505C>G (p.Val835=)
c.2390C>G
c.*676C>G (n.*676C>G)
c.2133C>G (p.Val711=)
c.*2532C>G (n.*2532C>G)
c.2038C>G
c.*935C>G (n.*935C>G)
c.2445C>G
c.2466C>G (p.Val822=)
c.*1929C>G (n.*1929C>G)
c.*1052C>G (n.*1052C>G)
c.1439C>G
c.2343C>G (p.Val781=)
c.2454C>G (p.Val818=)
c.2508C>G (p.Val836=)
c.27C>G (p.Val9=)
c.2397C>G (p.Val799=)
n.582+6003G>C
c.2082C>G (p.Val694=)
c.2079C>G (p.Val693=)
n.2870C>G
n.2705C>G
n.601-2832G>C
n.475+7891G>C
n.600+6003G>C
3g.193662917C>TCA437441621OPA1c.2616C>T (p.Val872=)
c.2451C>T (p.Val817=)
c.2562C>T (p.Val854=)
c.2505C>T (p.Val835=)
c.2390C>T
c.*676C>T (n.*676C>T)
c.2133C>T (p.Val711=)
c.*2532C>T (n.*2532C>T)
c.2038C>T
c.*935C>T (n.*935C>T)
c.2445C>T
c.2466C>T (p.Val822=)
c.*1929C>T (n.*1929C>T)
c.*1052C>T (n.*1052C>T)
c.1439C>T
c.2343C>T (p.Val781=)
c.2454C>T (p.Val818=)
c.2508C>T (p.Val836=)
c.27C>T (p.Val9=)
c.2397C>T (p.Val799=)
n.582+6003G>A
c.2082C>T (p.Val694=)
c.2079C>T (p.Val693=)
n.2870C>T
n.2705C>T
n.601-2832G>A
n.475+7891G>A
n.600+6003G>A
3g.193662918C>ACA437441623OPA1c.2617C>A (p.Arg873=)
c.2452C>A (p.Arg818=)
c.2563C>A (p.Arg855=)
c.2506C>A (p.Arg836=)
c.2391C>A
c.*677C>A (n.*677C>A)
c.2134C>A (p.Arg712=)
c.*2533C>A (n.*2533C>A)
c.2039C>A
c.*936C>A (n.*936C>A)
c.2446C>A
c.2467C>A (p.Arg823=)
c.*1930C>A (n.*1930C>A)
c.*1053C>A (n.*1053C>A)
c.1440C>A
c.2344C>A (p.Arg782=)
c.2455C>A (p.Arg819=)
c.2509C>A (p.Arg837=)
c.28C>A (p.Arg10=)
c.2398C>A (p.Arg800=)
n.582+6002G>T
c.2083C>A (p.Arg695=)
c.2080C>A (p.Arg694=)
n.2871C>A
n.2706C>A
n.601-2833G>T
n.475+7890G>T
n.600+6002G>T
3g.193662918C=CA1430270688OPA1c.2617C= (p.Arg873=)
c.2452C= (p.Arg818=)
c.2563C= (p.Arg855=)
c.2506C= (p.Arg836=)
c.2391C=
c.*677C= (n.*677C=)
c.2134C= (p.Arg712=)
c.*2533C= (n.*2533C=)
c.2039C=
c.*936C= (n.*936C=)
c.2446C=
c.2467C= (p.Arg823=)
c.*1930C= (n.*1930C=)
c.*1053C= (n.*1053C=)
c.1440C=
c.2344C= (p.Arg782=)
c.2455C= (p.Arg819=)
c.2509C= (p.Arg837=)
c.28C= (p.Arg10=)
c.2398C= (p.Arg800=)
n.582+6002G=
c.2083C= (p.Arg695=)
c.2080C= (p.Arg694=)
n.2871C=
n.2706C=
n.601-2833G=
n.475+7890G=
n.600+6002G=
3g.193662918C>GCA355793225OPA1c.2617C>G (p.Arg873Gly)
c.2452C>G (p.Arg818Gly)
c.2563C>G (p.Arg855Gly)
c.2506C>G (p.Arg836Gly)
c.2391C>G
c.*677C>G (n.*677C>G)
c.2134C>G (p.Arg712Gly)
c.*2533C>G (n.*2533C>G)
c.2039C>G
c.*936C>G (n.*936C>G)
c.2446C>G
c.2467C>G (p.Arg823Gly)
c.*1930C>G (n.*1930C>G)
c.*1053C>G (n.*1053C>G)
c.1440C>G
c.2344C>G (p.Arg782Gly)
c.2455C>G (p.Arg819Gly)
c.2509C>G (p.Arg837Gly)
c.28C>G (p.Arg10Gly)
c.2398C>G (p.Arg800Gly)
n.582+6002G>C
c.2083C>G (p.Arg695Gly)
c.2080C>G (p.Arg694Gly)
n.2871C>G
n.2706C>G
n.601-2833G>C
n.475+7890G>C
n.600+6002G>C
3g.193662918C>TCA2759706OPA1c.2617C>T (p.Arg873Trp)
c.2452C>T (p.Arg818Trp)
c.2563C>T (p.Arg855Trp)
c.2506C>T (p.Arg836Trp)
c.2391C>T
c.*677C>T (n.*677C>T)
c.2134C>T (p.Arg712Trp)
c.*2533C>T (n.*2533C>T)
c.2039C>T
c.*936C>T (n.*936C>T)
c.2446C>T
c.2467C>T (p.Arg823Trp)
c.*1930C>T (n.*1930C>T)
c.*1053C>T (n.*1053C>T)
c.1440C>T
c.2344C>T (p.Arg782Trp)
c.2455C>T (p.Arg819Trp)
c.2509C>T (p.Arg837Trp)
c.28C>T (p.Arg10Trp)
c.2398C>T (p.Arg800Trp)
n.582+6002G>A
c.2083C>T (p.Arg695Trp)
c.2080C>T (p.Arg694Trp)
n.2871C>T
n.2706C>T
n.601-2833G>A
n.475+7890G>A
n.600+6002G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.193662919G>ACA90554529OPA1c.2618G>A (p.Arg873Gln)
c.2453G>A (p.Arg818Gln)
c.2564G>A (p.Arg855Gln)
c.2507G>A (p.Arg836Gln)
c.2392G>A
c.*678G>A (n.*678G>A)
c.2135G>A (p.Arg712Gln)
c.*2534G>A (n.*2534G>A)
c.2040G>A
c.*937G>A (n.*937G>A)
c.2447G>A
c.2468G>A (p.Arg823Gln)
c.*1931G>A (n.*1931G>A)
c.*1054G>A (n.*1054G>A)
c.1441G>A
c.2345G>A (p.Arg782Gln)
c.2456G>A (p.Arg819Gln)
c.2510G>A (p.Arg837Gln)
c.29G>A (p.Arg10Gln)
c.2399G>A (p.Arg800Gln)
n.582+6001C>T
c.2084G>A (p.Arg695Gln)
c.2081G>A (p.Arg694Gln)
n.2872G>A
n.2707G>A
n.601-2834C>T
n.475+7889C>T
n.600+6001C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.193662919G>CCA355793226OPA1c.2618G>C (p.Arg873Pro)
c.2453G>C (p.Arg818Pro)
c.2564G>C (p.Arg855Pro)
c.2507G>C (p.Arg836Pro)
c.2392G>C
c.*678G>C (n.*678G>C)
c.2135G>C (p.Arg712Pro)
c.*2534G>C (n.*2534G>C)
c.2040G>C
c.*937G>C (n.*937G>C)
c.2447G>C
c.2468G>C (p.Arg823Pro)
c.*1931G>C (n.*1931G>C)
c.*1054G>C (n.*1054G>C)
c.1441G>C
c.2345G>C (p.Arg782Pro)
c.2456G>C (p.Arg819Pro)
c.2510G>C (p.Arg837Pro)
c.29G>C (p.Arg10Pro)
c.2399G>C (p.Arg800Pro)
n.582+6001C>G
c.2084G>C (p.Arg695Pro)
c.2081G>C (p.Arg694Pro)
n.2872G>C
n.2707G>C
n.601-2834C>G
n.475+7889C>G
n.600+6001C>G
3g.193662919G=CA1430270690OPA1c.2618G= (p.Arg873=)
c.2453G= (p.Arg818=)
c.2564G= (p.Arg855=)
c.2507G= (p.Arg836=)
c.2392G=
c.*678G= (n.*678G=)
c.2135G= (p.Arg712=)
c.*2534G= (n.*2534G=)
c.2040G=
c.*937G= (n.*937G=)
c.2447G=
c.2468G= (p.Arg823=)
c.*1931G= (n.*1931G=)
c.*1054G= (n.*1054G=)
c.1441G=
c.2345G= (p.Arg782=)
c.2456G= (p.Arg819=)
c.2510G= (p.Arg837=)
c.29G= (p.Arg10=)
c.2399G= (p.Arg800=)
n.582+6001C=
c.2084G= (p.Arg695=)
c.2081G= (p.Arg694=)
n.2872G=
n.2707G=
n.601-2834C=
n.475+7889C=
n.600+6001C=
3g.193662919G>TCA355793227OPA1c.2618G>T (p.Arg873Leu)
c.2453G>T (p.Arg818Leu)
c.2564G>T (p.Arg855Leu)
c.2507G>T (p.Arg836Leu)
c.2392G>T
c.*678G>T (n.*678G>T)
c.2135G>T (p.Arg712Leu)
c.*2534G>T (n.*2534G>T)
c.2040G>T
c.*937G>T (n.*937G>T)
c.2447G>T
c.2468G>T (p.Arg823Leu)
c.*1931G>T (n.*1931G>T)
c.*1054G>T (n.*1054G>T)
c.1441G>T
c.2345G>T (p.Arg782Leu)
c.2456G>T (p.Arg819Leu)
c.2510G>T (p.Arg837Leu)
c.29G>T (p.Arg10Leu)
c.2399G>T (p.Arg800Leu)
n.582+6001C>A
c.2084G>T (p.Arg695Leu)
c.2081G>T (p.Arg694Leu)
n.2872G>T
n.2707G>T
n.601-2834C>A
n.475+7889C>A
n.600+6001C>A
3g.193662920delCA2586973358OPA1c.2619del (p.Lys874ArgfsTer8)
c.2454del (p.Lys819ArgfsTer8)
c.2565del (p.Lys856ArgfsTer8)
c.2508del (p.Lys837ArgfsTer8)
c.2393del
c.*679del (n.*679del)
c.2136del (p.Lys713ArgfsTer8)
c.*2535del (n.*2535del)
c.2041del
c.*938del (n.*938del)
c.2448del
c.2469del (p.Lys824ArgfsTer8)
c.*1932del (n.*1932del)
c.*1055del (n.*1055del)
c.1442del
c.2346del (p.Lys783ArgfsTer8)
c.2457del (p.Lys820ArgfsTer8)
c.2511del (p.Lys838ArgfsTer8)
c.30del (p.Lys11ArgfsTer8)
c.2400del (p.Lys801ArgfsTer8)
n.582+6001del
c.2085del (p.Lys696ArgfsTer8)
c.2082del (p.Lys695ArgfsTer8)
n.2873del
n.2708del
n.601-2834del
n.475+7889del
n.600+6001del
3g.193662920G>ACA437441624OPA1c.2619G>A (p.Arg873=)
c.2454G>A (p.Arg818=)
c.2565G>A (p.Arg855=)
c.2508G>A (p.Arg836=)
c.2393G>A
c.*679G>A (n.*679G>A)
c.2136G>A (p.Arg712=)
c.*2535G>A (n.*2535G>A)
c.2041G>A
c.*938G>A (n.*938G>A)
c.2448G>A
c.2469G>A (p.Arg823=)
c.*1932G>A (n.*1932G>A)
c.*1055G>A (n.*1055G>A)
c.1442G>A
c.2346G>A (p.Arg782=)
c.2457G>A (p.Arg819=)
c.2511G>A (p.Arg837=)
c.30G>A (p.Arg10=)
c.2400G>A (p.Arg800=)
n.582+6000C>T
c.2085G>A (p.Arg695=)
c.2082G>A (p.Arg694=)
n.2873G>A
n.2708G>A
n.601-2835C>T
n.475+7888C>T
n.600+6000C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.193662920G>CCA437441626OPA1c.2619G>C (p.Arg873=)
c.2454G>C (p.Arg818=)
c.2565G>C (p.Arg855=)
c.2508G>C (p.Arg836=)
c.2393G>C
c.*679G>C (n.*679G>C)
c.2136G>C (p.Arg712=)
c.*2535G>C (n.*2535G>C)
c.2041G>C
c.*938G>C (n.*938G>C)
c.2448G>C
c.2469G>C (p.Arg823=)
c.*1932G>C (n.*1932G>C)
c.*1055G>C (n.*1055G>C)
c.1442G>C
c.2346G>C (p.Arg782=)
c.2457G>C (p.Arg819=)
c.2511G>C (p.Arg837=)
c.30G>C (p.Arg10=)
c.2400G>C (p.Arg800=)
n.582+6000C>G
c.2085G>C (p.Arg695=)
c.2082G>C (p.Arg694=)
n.2873G>C
n.2708G>C
n.601-2835C>G
n.475+7888C>G
n.600+6000C>G
3g.193662920G=CA1430270692OPA1c.2619G= (p.Arg873=)
c.2454G= (p.Arg818=)
c.2565G= (p.Arg855=)
c.2508G= (p.Arg836=)
c.2393G=
c.*679G= (n.*679G=)
c.2136G= (p.Arg712=)
c.*2535G= (n.*2535G=)
c.2041G=
c.*938G= (n.*938G=)
c.2448G=
c.2469G= (p.Arg823=)
c.*1932G= (n.*1932G=)
c.*1055G= (n.*1055G=)
c.1442G=
c.2346G= (p.Arg782=)
c.2457G= (p.Arg819=)
c.2511G= (p.Arg837=)
c.30G= (p.Arg10=)
c.2400G= (p.Arg800=)
n.582+6000C=
c.2085G= (p.Arg695=)
c.2082G= (p.Arg694=)
n.2873G=
n.2708G=
n.601-2835C=
n.475+7888C=
n.600+6000C=
3g.193662920G>TCA437441628OPA1c.2619G>T (p.Arg873=)
c.2454G>T (p.Arg818=)
c.2565G>T (p.Arg855=)
c.2508G>T (p.Arg836=)
c.2393G>T
c.*679G>T (n.*679G>T)
c.2136G>T (p.Arg712=)
c.*2535G>T (n.*2535G>T)
c.2041G>T
c.*938G>T (n.*938G>T)
c.2448G>T
c.2469G>T (p.Arg823=)
c.*1932G>T (n.*1932G>T)
c.*1055G>T (n.*1055G>T)
c.1442G>T
c.2346G>T (p.Arg782=)
c.2457G>T (p.Arg819=)
c.2511G>T (p.Arg837=)
c.30G>T (p.Arg10=)
c.2400G>T (p.Arg800=)
n.582+6000C>A
c.2085G>T (p.Arg695=)
c.2082G>T (p.Arg694=)
n.2873G>T
n.2708G>T
n.601-2835C>A
n.475+7888C>A
n.600+6000C>A
3g.193662921A>CCA355793228OPA1c.2620A>C (p.Lys874Gln)
c.2455A>C (p.Lys819Gln)
c.2566A>C (p.Lys856Gln)
c.2509A>C (p.Lys837Gln)
c.2394A>C
c.*680A>C (n.*680A>C)
c.2137A>C (p.Lys713Gln)
c.*2536A>C (n.*2536A>C)
c.2042A>C
c.*939A>C (n.*939A>C)
c.2449A>C
c.2470A>C (p.Lys824Gln)
c.*1933A>C (n.*1933A>C)
c.*1056A>C (n.*1056A>C)
c.1443A>C
c.2347A>C (p.Lys783Gln)
c.2458A>C (p.Lys820Gln)
c.2512A>C (p.Lys838Gln)
c.31A>C (p.Lys11Gln)
c.2401A>C (p.Lys801Gln)
n.582+5999T>G
c.2086A>C (p.Lys696Gln)
c.2083A>C (p.Lys695Gln)
n.2874A>C
n.2709A>C
n.601-2836T>G
n.475+7887T>G
n.600+5999T>G
3g.193662921A>GCA355793229OPA1c.2620A>G (p.Lys874Glu)
c.2455A>G (p.Lys819Glu)
c.2566A>G (p.Lys856Glu)
c.2509A>G (p.Lys837Glu)
c.2394A>G
c.*680A>G (n.*680A>G)
c.2137A>G (p.Lys713Glu)
c.*2536A>G (n.*2536A>G)
c.2042A>G
c.*939A>G (n.*939A>G)
c.2449A>G
c.2470A>G (p.Lys824Glu)
c.*1933A>G (n.*1933A>G)
c.*1056A>G (n.*1056A>G)
c.1443A>G
c.2347A>G (p.Lys783Glu)
c.2458A>G (p.Lys820Glu)
c.2512A>G (p.Lys838Glu)
c.31A>G (p.Lys11Glu)
c.2401A>G (p.Lys801Glu)
n.582+5999T>C
c.2086A>G (p.Lys696Glu)
c.2083A>G (p.Lys695Glu)
n.2874A>G
n.2709A>G
n.601-2836T>C
n.475+7887T>C
n.600+5999T>C
3g.193662921A>TCA355793230OPA1c.2620A>T (p.Lys874Ter)
c.2455A>T (p.Lys819Ter)
c.2566A>T (p.Lys856Ter)
c.2509A>T (p.Lys837Ter)
c.2394A>T
c.*680A>T (n.*680A>T)
c.2137A>T (p.Lys713Ter)
c.*2536A>T (n.*2536A>T)
c.2042A>T
c.*939A>T (n.*939A>T)
c.2449A>T
c.2470A>T (p.Lys824Ter)
c.*1933A>T (n.*1933A>T)
c.*1056A>T (n.*1056A>T)
c.1443A>T
c.2347A>T (p.Lys783Ter)
c.2458A>T (p.Lys820Ter)
c.2512A>T (p.Lys838Ter)
c.31A>T (p.Lys11Ter)
c.2401A>T (p.Lys801Ter)
n.582+5999T>A
c.2086A>T (p.Lys696Ter)
c.2083A>T (p.Lys695Ter)
n.2874A>T
n.2709A>T
n.601-2836T>A
n.475+7887T>A
n.600+5999T>A
3g.193662922A>CCA355793231OPA1c.2621A>C (p.Lys874Thr)
c.2456A>C (p.Lys819Thr)
c.2567A>C (p.Lys856Thr)
c.2510A>C (p.Lys837Thr)
c.2395A>C
c.*681A>C (n.*681A>C)
c.2138A>C (p.Lys713Thr)
c.*2537A>C (n.*2537A>C)
c.2043A>C
c.*940A>C (n.*940A>C)
c.2450A>C
c.2471A>C (p.Lys824Thr)
c.*1934A>C (n.*1934A>C)
c.*1057A>C (n.*1057A>C)
c.1444A>C
c.2348A>C (p.Lys783Thr)
c.2459A>C (p.Lys820Thr)
c.2513A>C (p.Lys838Thr)
c.32A>C (p.Lys11Thr)
c.2402A>C (p.Lys801Thr)
n.582+5998T>G
c.2087A>C (p.Lys696Thr)
c.2084A>C (p.Lys695Thr)
n.2875A>C
n.2710A>C
n.601-2837T>G
n.475+7886T>G
n.600+5998T>G
3g.193662922A>GCA355793233OPA1c.2621A>G (p.Lys874Arg)
c.2456A>G (p.Lys819Arg)
c.2567A>G (p.Lys856Arg)
c.2510A>G (p.Lys837Arg)
c.2395A>G
c.*681A>G (n.*681A>G)
c.2138A>G (p.Lys713Arg)
c.*2537A>G (n.*2537A>G)
c.2043A>G
c.*940A>G (n.*940A>G)
c.2450A>G
c.2471A>G (p.Lys824Arg)
c.*1934A>G (n.*1934A>G)
c.*1057A>G (n.*1057A>G)
c.1444A>G
c.2348A>G (p.Lys783Arg)
c.2459A>G (p.Lys820Arg)
c.2513A>G (p.Lys838Arg)
c.32A>G (p.Lys11Arg)
c.2402A>G (p.Lys801Arg)
n.582+5998T>C
c.2087A>G (p.Lys696Arg)
c.2084A>G (p.Lys695Arg)
n.2875A>G
n.2710A>G
n.601-2837T>C
n.475+7886T>C
n.600+5998T>C
3g.193662922A>TCA355793232OPA1c.2621A>T (p.Lys874Met)
c.2456A>T (p.Lys819Met)
c.2567A>T (p.Lys856Met)
c.2510A>T (p.Lys837Met)
c.2395A>T
c.*681A>T (n.*681A>T)
c.2138A>T (p.Lys713Met)
c.*2537A>T (n.*2537A>T)
c.2043A>T
c.*940A>T (n.*940A>T)
c.2450A>T
c.2471A>T (p.Lys824Met)
c.*1934A>T (n.*1934A>T)
c.*1057A>T (n.*1057A>T)
c.1444A>T
c.2348A>T (p.Lys783Met)
c.2459A>T (p.Lys820Met)
c.2513A>T (p.Lys838Met)
c.32A>T (p.Lys11Met)
c.2402A>T (p.Lys801Met)
n.582+5998T>A
c.2087A>T (p.Lys696Met)
c.2084A>T (p.Lys695Met)
n.2875A>T
n.2710A>T
n.601-2837T>A
n.475+7886T>A
n.600+5998T>A
3g.193662923G>ACA2759707OPA1c.2622G>A (p.Lys874=)
c.2457G>A (p.Lys819=)
c.2568G>A (p.Lys856=)
c.2511G>A (p.Lys837=)
c.2396G>A
c.*682G>A (n.*682G>A)
c.2139G>A (p.Lys713=)
c.*2538G>A (n.*2538G>A)
c.2044G>A
c.*941G>A (n.*941G>A)
c.2451G>A
c.2472G>A (p.Lys824=)
c.*1935G>A (n.*1935G>A)
c.*1058G>A (n.*1058G>A)
c.1445G>A
c.2349G>A (p.Lys783=)
c.2460G>A (p.Lys820=)
c.2514G>A (p.Lys838=)
c.33G>A (p.Lys11=)
c.2403G>A (p.Lys801=)
n.582+5997C>T
c.2088G>A (p.Lys696=)
c.2085G>A (p.Lys695=)
n.2876G>A
n.2711G>A
n.601-2838C>T
n.475+7885C>T
n.600+5997C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.193662923G>CCA355793235OPA1c.2622G>C (p.Lys874Asn)
c.2457G>C (p.Lys819Asn)
c.2568G>C (p.Lys856Asn)
c.2511G>C (p.Lys837Asn)
c.2396G>C
c.*682G>C (n.*682G>C)
c.2139G>C (p.Lys713Asn)
c.*2538G>C (n.*2538G>C)
c.2044G>C
c.*941G>C (n.*941G>C)
c.2451G>C
c.2472G>C (p.Lys824Asn)
c.*1935G>C (n.*1935G>C)
c.*1058G>C (n.*1058G>C)
c.1445G>C
c.2349G>C (p.Lys783Asn)
c.2460G>C (p.Lys820Asn)
c.2514G>C (p.Lys838Asn)
c.33G>C (p.Lys11Asn)
c.2403G>C (p.Lys801Asn)
n.582+5997C>G
c.2088G>C (p.Lys696Asn)
c.2085G>C (p.Lys695Asn)
n.2876G>C
n.2711G>C
n.601-2838C>G
n.475+7885C>G
n.600+5997C>G
3g.193662923G=CA1430270694OPA1c.2622G= (p.Lys874=)
c.2457G= (p.Lys819=)
c.2568G= (p.Lys856=)
c.2511G= (p.Lys837=)
c.2396G=
c.*682G= (n.*682G=)
c.2139G= (p.Lys713=)
c.*2538G= (n.*2538G=)
c.2044G=
c.*941G= (n.*941G=)
c.2451G=
c.2472G= (p.Lys824=)
c.*1935G= (n.*1935G=)
c.*1058G= (n.*1058G=)
c.1445G=
c.2349G= (p.Lys783=)
c.2460G= (p.Lys820=)
c.2514G= (p.Lys838=)
c.33G= (p.Lys11=)
c.2403G= (p.Lys801=)
n.582+5997C=
c.2088G= (p.Lys696=)
c.2085G= (p.Lys695=)
n.2876G=
n.2711G=
n.601-2838C=
n.475+7885C=
n.600+5997C=
3g.193662923G>TCA355793234OPA1c.2622G>T (p.Lys874Asn)
c.2457G>T (p.Lys819Asn)
c.2568G>T (p.Lys856Asn)
c.2511G>T (p.Lys837Asn)
c.2396G>T
c.*682G>T (n.*682G>T)
c.2139G>T (p.Lys713Asn)
c.*2538G>T (n.*2538G>T)
c.2044G>T
c.*941G>T (n.*941G>T)
c.2451G>T
c.2472G>T (p.Lys824Asn)
c.*1935G>T (n.*1935G>T)
c.*1058G>T (n.*1058G>T)
c.1445G>T
c.2349G>T (p.Lys783Asn)
c.2460G>T (p.Lys820Asn)
c.2514G>T (p.Lys838Asn)
c.33G>T (p.Lys11Asn)
c.2403G>T (p.Lys801Asn)
n.582+5997C>A
c.2088G>T (p.Lys696Asn)
c.2085G>T (p.Lys695Asn)
n.2876G>T
n.2711G>T
n.601-2838C>A
n.475+7885C>A
n.600+5997C>A
3g.193662924A>CCA355793236OPA1c.2623A>C (p.Asn875His)
c.2458A>C (p.Asn820His)
c.2569A>C (p.Asn857His)
c.2512A>C (p.Asn838His)
c.2397A>C
c.*683A>C (n.*683A>C)
c.2140A>C (p.Asn714His)
c.*2539A>C (n.*2539A>C)
c.2045A>C
c.*942A>C (n.*942A>C)
c.2452A>C
c.2473A>C (p.Asn825His)
c.*1936A>C (n.*1936A>C)
c.*1059A>C (n.*1059A>C)
c.1446A>C
c.2350A>C (p.Asn784His)
c.2461A>C (p.Asn821His)
c.2515A>C (p.Asn839His)
c.34A>C (p.Asn12His)
c.2404A>C (p.Asn802His)
n.582+5996T>G
c.2089A>C (p.Asn697His)
c.2086A>C (p.Asn696His)
n.2877A>C
n.2712A>C
n.601-2839T>G
n.475+7884T>G
n.600+5996T>G
3g.193662924A>GCA355793238OPA1c.2623A>G (p.Asn875Asp)
c.2458A>G (p.Asn820Asp)
c.2569A>G (p.Asn857Asp)
c.2512A>G (p.Asn838Asp)
c.2397A>G
c.*683A>G (n.*683A>G)
c.2140A>G (p.Asn714Asp)
c.*2539A>G (n.*2539A>G)
c.2045A>G
c.*942A>G (n.*942A>G)
c.2452A>G
c.2473A>G (p.Asn825Asp)
c.*1936A>G (n.*1936A>G)
c.*1059A>G (n.*1059A>G)
c.1446A>G
c.2350A>G (p.Asn784Asp)
c.2461A>G (p.Asn821Asp)
c.2515A>G (p.Asn839Asp)
c.34A>G (p.Asn12Asp)
c.2404A>G (p.Asn802Asp)
n.582+5996T>C
c.2089A>G (p.Asn697Asp)
c.2086A>G (p.Asn696Asp)
n.2877A>G
n.2712A>G
n.601-2839T>C
n.475+7884T>C
n.600+5996T>C
3g.193662924A>TCA355793237OPA1c.2623A>T (p.Asn875Tyr)
c.2458A>T (p.Asn820Tyr)
c.2569A>T (p.Asn857Tyr)
c.2512A>T (p.Asn838Tyr)
c.2397A>T
c.*683A>T (n.*683A>T)
c.2140A>T (p.Asn714Tyr)
c.*2539A>T (n.*2539A>T)
c.2045A>T
c.*942A>T (n.*942A>T)
c.2452A>T
c.2473A>T (p.Asn825Tyr)
c.*1936A>T (n.*1936A>T)
c.*1059A>T (n.*1059A>T)
c.1446A>T
c.2350A>T (p.Asn784Tyr)
c.2461A>T (p.Asn821Tyr)
c.2515A>T (p.Asn839Tyr)
c.34A>T (p.Asn12Tyr)
c.2404A>T (p.Asn802Tyr)
n.582+5996T>A
c.2089A>T (p.Asn697Tyr)
c.2086A>T (p.Asn696Tyr)
n.2877A>T
n.2712A>T
n.601-2839T>A
n.475+7884T>A
n.600+5996T>A
3g.193662925A>CCA355793239OPA1c.2624A>C (p.Asn875Thr)
c.2459A>C (p.Asn820Thr)
c.2570A>C (p.Asn857Thr)
c.2513A>C (p.Asn838Thr)
c.2398A>C
c.*684A>C (n.*684A>C)
c.2141A>C (p.Asn714Thr)
c.*2540A>C (n.*2540A>C)
c.2046A>C
c.*943A>C (n.*943A>C)
c.2453A>C
c.2474A>C (p.Asn825Thr)
c.*1937A>C (n.*1937A>C)
c.*1060A>C (n.*1060A>C)
c.1447A>C
c.2351A>C (p.Asn784Thr)
c.2462A>C (p.Asn821Thr)
c.2516A>C (p.Asn839Thr)
c.35A>C (p.Asn12Thr)
c.2405A>C (p.Asn802Thr)
n.582+5995T>G
c.2090A>C (p.Asn697Thr)
c.2087A>C (p.Asn696Thr)
n.2878A>C
n.2713A>C
n.601-2840T>G
n.475+7883T>G
n.600+5995T>G
3g.193662925A>GCA355793240OPA1c.2624A>G (p.Asn875Ser)
c.2459A>G (p.Asn820Ser)
c.2570A>G (p.Asn857Ser)
c.2513A>G (p.Asn838Ser)
c.2398A>G
c.*684A>G (n.*684A>G)
c.2141A>G (p.Asn714Ser)
c.*2540A>G (n.*2540A>G)
c.2046A>G
c.*943A>G (n.*943A>G)
c.2453A>G
c.2474A>G (p.Asn825Ser)
c.*1937A>G (n.*1937A>G)
c.*1060A>G (n.*1060A>G)
c.1447A>G
c.2351A>G (p.Asn784Ser)
c.2462A>G (p.Asn821Ser)
c.2516A>G (p.Asn839Ser)
c.35A>G (p.Asn12Ser)
c.2405A>G (p.Asn802Ser)
n.582+5995T>C
c.2090A>G (p.Asn697Ser)
c.2087A>G (p.Asn696Ser)
n.2878A>G
n.2713A>G
n.601-2840T>C
n.475+7883T>C
n.600+5995T>C
3g.193662925A>TCA355793241OPA1c.2624A>T (p.Asn875Ile)
c.2459A>T (p.Asn820Ile)
c.2570A>T (p.Asn857Ile)
c.2513A>T (p.Asn838Ile)
c.2398A>T
c.*684A>T (n.*684A>T)
c.2141A>T (p.Asn714Ile)
c.*2540A>T (n.*2540A>T)
c.2046A>T
c.*943A>T (n.*943A>T)
c.2453A>T
c.2474A>T (p.Asn825Ile)
c.*1937A>T (n.*1937A>T)
c.*1060A>T (n.*1060A>T)
c.1447A>T
c.2351A>T (p.Asn784Ile)
c.2462A>T (p.Asn821Ile)
c.2516A>T (p.Asn839Ile)
c.35A>T (p.Asn12Ile)
c.2405A>T (p.Asn802Ile)
n.582+5995T>A
c.2090A>T (p.Asn697Ile)
c.2087A>T (p.Asn696Ile)
n.2878A>T
n.2713A>T
n.601-2840T>A
n.475+7883T>A
n.600+5995T>A
3g.193662926C>ACA355793242OPA1c.2625C>A (p.Asn875Lys)
c.2460C>A (p.Asn820Lys)
c.2571C>A (p.Asn857Lys)
c.2514C>A (p.Asn838Lys)
c.2399C>A
c.*685C>A (n.*685C>A)
c.2142C>A (p.Asn714Lys)
c.*2541C>A (n.*2541C>A)
c.2047C>A
c.*944C>A (n.*944C>A)
c.2454C>A
c.2475C>A (p.Asn825Lys)
c.*1938C>A (n.*1938C>A)
c.*1061C>A (n.*1061C>A)
c.1448C>A
c.2352C>A (p.Asn784Lys)
c.2463C>A (p.Asn821Lys)
c.2517C>A (p.Asn839Lys)
c.36C>A (p.Asn12Lys)
c.2406C>A (p.Asn802Lys)
n.582+5994G>T
c.2091C>A (p.Asn697Lys)
c.2088C>A (p.Asn696Lys)
n.2879C>A
n.2714C>A
n.601-2841G>T
n.475+7882G>T
n.600+5994G>T
3g.193662926C>GCA355793243OPA1c.2625C>G (p.Asn875Lys)
c.2460C>G (p.Asn820Lys)
c.2571C>G (p.Asn857Lys)
c.2514C>G (p.Asn838Lys)
c.2399C>G
c.*685C>G (n.*685C>G)
c.2142C>G (p.Asn714Lys)
c.*2541C>G (n.*2541C>G)
c.2047C>G
c.*944C>G (n.*944C>G)
c.2454C>G
c.2475C>G (p.Asn825Lys)
c.*1938C>G (n.*1938C>G)
c.*1061C>G (n.*1061C>G)
c.1448C>G
c.2352C>G (p.Asn784Lys)
c.2463C>G (p.Asn821Lys)
c.2517C>G (p.Asn839Lys)
c.36C>G (p.Asn12Lys)
c.2406C>G (p.Asn802Lys)
n.582+5994G>C
c.2091C>G (p.Asn697Lys)
c.2088C>G (p.Asn696Lys)
n.2879C>G
n.2714C>G
n.601-2841G>C
n.475+7882G>C
n.600+5994G>C
3g.193662926C>TCA437441634OPA1c.2625C>T (p.Asn875=)
c.2460C>T (p.Asn820=)
c.2571C>T (p.Asn857=)
c.2514C>T (p.Asn838=)
c.2399C>T
c.*685C>T (n.*685C>T)
c.2142C>T (p.Asn714=)
c.*2541C>T (n.*2541C>T)
c.2047C>T
c.*944C>T (n.*944C>T)
c.2454C>T
c.2475C>T (p.Asn825=)
c.*1938C>T (n.*1938C>T)
c.*1061C>T (n.*1061C>T)
c.1448C>T
c.2352C>T (p.Asn784=)
c.2463C>T (p.Asn821=)
c.2517C>T (p.Asn839=)
c.36C>T (p.Asn12=)
c.2406C>T (p.Asn802=)
n.582+5994G>A
c.2091C>T (p.Asn697=)
c.2088C>T (p.Asn696=)
n.2879C>T
n.2714C>T
n.601-2841G>A
n.475+7882G>A
n.600+5994G>A
 gnomAD v4
3g.193662927C>ACA355793244OPA1c.2626C>A (p.Leu876Ile)
c.2461C>A (p.Leu821Ile)
c.2572C>A (p.Leu858Ile)
c.2515C>A (p.Leu839Ile)
c.2400C>A
c.*686C>A (n.*686C>A)
c.2143C>A (p.Leu715Ile)
c.*2542C>A (n.*2542C>A)
c.2048C>A
c.*945C>A (n.*945C>A)
c.2455C>A
c.2476C>A (p.Leu826Ile)
c.*1939C>A (n.*1939C>A)
c.*1062C>A (n.*1062C>A)
c.1449C>A
c.2353C>A (p.Leu785Ile)
c.2464C>A (p.Leu822Ile)
c.2518C>A (p.Leu840Ile)
c.37C>A (p.Leu13Ile)
c.2407C>A (p.Leu803Ile)
n.582+5993G>T
c.2092C>A (p.Leu698Ile)
c.2089C>A (p.Leu697Ile)
n.2880C>A
n.2715C>A
n.601-2842G>T
n.475+7881G>T
n.600+5993G>T
3g.193662927C>GCA355793245OPA1c.2626C>G (p.Leu876Val)
c.2461C>G (p.Leu821Val)
c.2572C>G (p.Leu858Val)
c.2515C>G (p.Leu839Val)
c.2400C>G
c.*686C>G (n.*686C>G)
c.2143C>G (p.Leu715Val)
c.*2542C>G (n.*2542C>G)
c.2048C>G
c.*945C>G (n.*945C>G)
c.2455C>G
c.2476C>G (p.Leu826Val)
c.*1939C>G (n.*1939C>G)
c.*1062C>G (n.*1062C>G)
c.1449C>G
c.2353C>G (p.Leu785Val)
c.2464C>G (p.Leu822Val)
c.2518C>G (p.Leu840Val)
c.37C>G (p.Leu13Val)
c.2407C>G (p.Leu803Val)
n.582+5993G>C
c.2092C>G (p.Leu698Val)
c.2089C>G (p.Leu697Val)
n.2880C>G
n.2715C>G
n.601-2842G>C
n.475+7881G>C
n.600+5993G>C
 gnomAD v4 COSMIC
3g.193662927C>TCA355793246OPA1c.2626C>T (p.Leu876Phe)
c.2461C>T (p.Leu821Phe)
c.2572C>T (p.Leu858Phe)
c.2515C>T (p.Leu839Phe)
c.2400C>T
c.*686C>T (n.*686C>T)
c.2143C>T (p.Leu715Phe)
c.*2542C>T (n.*2542C>T)
c.2048C>T
c.*945C>T (n.*945C>T)
c.2455C>T
c.2476C>T (p.Leu826Phe)
c.*1939C>T (n.*1939C>T)
c.*1062C>T (n.*1062C>T)
c.1449C>T
c.2353C>T (p.Leu785Phe)
c.2464C>T (p.Leu822Phe)
c.2518C>T (p.Leu840Phe)
c.37C>T (p.Leu13Phe)
c.2407C>T (p.Leu803Phe)
n.582+5993G>A
c.2092C>T (p.Leu698Phe)
c.2089C>T (p.Leu697Phe)
n.2880C>T
n.2715C>T
n.601-2842G>A
n.475+7881G>A
n.600+5993G>A
3g.193662928T>ACA355793247OPA1c.2627T>A (p.Leu876His)
c.2462T>A (p.Leu821His)
c.2573T>A (p.Leu858His)
c.2516T>A (p.Leu839His)
c.2401T>A
c.*687T>A (n.*687T>A)
c.2144T>A (p.Leu715His)
c.*2543T>A (n.*2543T>A)
c.2049T>A
c.*946T>A (n.*946T>A)
c.2456T>A
c.2477T>A (p.Leu826His)
c.*1940T>A (n.*1940T>A)
c.*1063T>A (n.*1063T>A)
c.1450T>A
c.2354T>A (p.Leu785His)
c.2465T>A (p.Leu822His)
c.2519T>A (p.Leu840His)
c.38T>A (p.Leu13His)
c.2408T>A (p.Leu803His)
n.582+5992A>T
c.2093T>A (p.Leu698His)
c.2090T>A (p.Leu697His)
n.2881T>A
n.2716T>A
n.601-2843A>T
n.475+7880A>T
n.600+5992A>T
3g.193662928T>CCA355793248OPA1c.2627T>C (p.Leu876Pro)
c.2462T>C (p.Leu821Pro)
c.2573T>C (p.Leu858Pro)
c.2516T>C (p.Leu839Pro)
c.2401T>C
c.*687T>C (n.*687T>C)
c.2144T>C (p.Leu715Pro)
c.*2543T>C (n.*2543T>C)
c.2049T>C
c.*946T>C (n.*946T>C)
c.2456T>C
c.2477T>C (p.Leu826Pro)
c.*1940T>C (n.*1940T>C)
c.*1063T>C (n.*1063T>C)
c.1450T>C
c.2354T>C (p.Leu785Pro)
c.2465T>C (p.Leu822Pro)
c.2519T>C (p.Leu840Pro)
c.38T>C (p.Leu13Pro)
c.2408T>C (p.Leu803Pro)
n.582+5992A>G
c.2093T>C (p.Leu698Pro)
c.2090T>C (p.Leu697Pro)
n.2881T>C
n.2716T>C
n.601-2843A>G
n.475+7880A>G
n.600+5992A>G
3g.193662928T>GCA355793249OPA1c.2627T>G (p.Leu876Arg)
c.2462T>G (p.Leu821Arg)
c.2573T>G (p.Leu858Arg)
c.2516T>G (p.Leu839Arg)
c.2401T>G
c.*687T>G (n.*687T>G)
c.2144T>G (p.Leu715Arg)
c.*2543T>G (n.*2543T>G)
c.2049T>G
c.*946T>G (n.*946T>G)
c.2456T>G
c.2477T>G (p.Leu826Arg)
c.*1940T>G (n.*1940T>G)
c.*1063T>G (n.*1063T>G)
c.1450T>G
c.2354T>G (p.Leu785Arg)
c.2465T>G (p.Leu822Arg)
c.2519T>G (p.Leu840Arg)
c.38T>G (p.Leu13Arg)
c.2408T>G (p.Leu803Arg)
n.582+5992A>C
c.2093T>G (p.Leu698Arg)
c.2090T>G (p.Leu697Arg)
n.2881T>G
n.2716T>G
n.601-2843A>C
n.475+7880A>C
n.600+5992A>C
3g.193662929T>ACA437441637OPA1c.2628T>A (p.Leu876=)
c.2463T>A (p.Leu821=)
c.2574T>A (p.Leu858=)
c.2517T>A (p.Leu839=)
c.2402T>A
c.*688T>A (n.*688T>A)
c.2145T>A (p.Leu715=)
c.*2544T>A (n.*2544T>A)
c.2050T>A
c.*947T>A (n.*947T>A)
c.2457T>A
c.2478T>A (p.Leu826=)
c.*1941T>A (n.*1941T>A)
c.*1064T>A (n.*1064T>A)
c.1451T>A
c.2355T>A (p.Leu785=)
c.2466T>A (p.Leu822=)
c.2520T>A (p.Leu840=)
c.39T>A (p.Leu13=)
c.2409T>A (p.Leu803=)
n.582+5991A>T
c.2094T>A (p.Leu698=)
c.2091T>A (p.Leu697=)
n.2882T>A
n.2717T>A
n.601-2844A>T
n.475+7879A>T
n.600+5991A>T
3g.193662929T>CCA437441638OPA1c.2628T>C (p.Leu876=)
c.2463T>C (p.Leu821=)
c.2574T>C (p.Leu858=)
c.2517T>C (p.Leu839=)
c.2402T>C
c.*688T>C (n.*688T>C)
c.2145T>C (p.Leu715=)
c.*2544T>C (n.*2544T>C)
c.2050T>C
c.*947T>C (n.*947T>C)
c.2457T>C
c.2478T>C (p.Leu826=)
c.*1941T>C (n.*1941T>C)
c.*1064T>C (n.*1064T>C)
c.1451T>C
c.2355T>C (p.Leu785=)
c.2466T>C (p.Leu822=)
c.2520T>C (p.Leu840=)
c.39T>C (p.Leu13=)
c.2409T>C (p.Leu803=)
n.582+5991A>G
c.2094T>C (p.Leu698=)
c.2091T>C (p.Leu697=)
n.2882T>C
n.2717T>C
n.601-2844A>G
n.475+7879A>G
n.600+5991A>G
3g.193662929T>GCA437441640OPA1c.2628T>G (p.Leu876=)
c.2463T>G (p.Leu821=)
c.2574T>G (p.Leu858=)
c.2517T>G (p.Leu839=)
c.2402T>G
c.*688T>G (n.*688T>G)
c.2145T>G (p.Leu715=)
c.*2544T>G (n.*2544T>G)
c.2050T>G
c.*947T>G (n.*947T>G)
c.2457T>G
c.2478T>G (p.Leu826=)
c.*1941T>G (n.*1941T>G)
c.*1064T>G (n.*1064T>G)
c.1451T>G
c.2355T>G (p.Leu785=)
c.2466T>G (p.Leu822=)
c.2520T>G (p.Leu840=)
c.39T>G (p.Leu13=)
c.2409T>G (p.Leu803=)
n.582+5991A>C
c.2094T>G (p.Leu698=)
c.2091T>G (p.Leu697=)
n.2882T>G
n.2717T>G
n.601-2844A>C
n.475+7879A>C
n.600+5991A>C
3g.193662929T=CA1430270696OPA1c.2628T= (p.Leu876=)
c.2463T= (p.Leu821=)
c.2574T= (p.Leu858=)
c.2517T= (p.Leu839=)
c.2402T=
c.*688T= (n.*688T=)
c.2145T= (p.Leu715=)
c.*2544T= (n.*2544T=)
c.2050T=
c.*947T= (n.*947T=)
c.2457T=
c.2478T= (p.Leu826=)
c.*1941T= (n.*1941T=)
c.*1064T= (n.*1064T=)
c.1451T=
c.2355T= (p.Leu785=)
c.2466T= (p.Leu822=)
c.2520T= (p.Leu840=)
c.39T= (p.Leu13=)
c.2409T= (p.Leu803=)
n.582+5991A=
c.2094T= (p.Leu698=)
c.2091T= (p.Leu697=)
n.2882T=
n.2717T=
n.601-2844A=
n.475+7879A=
n.600+5991A=
3g.193662930G>ACA355793252OPA1c.2629G>A (p.Glu877Lys)
c.2464G>A (p.Glu822Lys)
c.2575G>A (p.Glu859Lys)
c.2518G>A (p.Glu840Lys)
c.2403G>A
c.*689G>A (n.*689G>A)
c.2146G>A (p.Glu716Lys)
c.*2545G>A (n.*2545G>A)
c.2051G>A
c.*948G>A (n.*948G>A)
c.2458G>A
c.2479G>A (p.Glu827Lys)
c.*1942G>A (n.*1942G>A)
c.*1065G>A (n.*1065G>A)
c.1452G>A
c.2356G>A (p.Glu786Lys)
c.2467G>A (p.Glu823Lys)
c.2521G>A (p.Glu841Lys)
c.40G>A (p.Glu14Lys)
c.2410G>A (p.Glu804Lys)
n.582+5990C>T
c.2095G>A (p.Glu699Lys)
c.2092G>A (p.Glu698Lys)
n.2883G>A
n.2718G>A
n.601-2845C>T
n.475+7878C>T
n.600+5990C>T
3g.193662930G>CCA355793250OPA1c.2629G>C (p.Glu877Gln)
c.2464G>C (p.Glu822Gln)
c.2575G>C (p.Glu859Gln)
c.2518G>C (p.Glu840Gln)
c.2403G>C
c.*689G>C (n.*689G>C)
c.2146G>C (p.Glu716Gln)
c.*2545G>C (n.*2545G>C)
c.2051G>C
c.*948G>C (n.*948G>C)
c.2458G>C
c.2479G>C (p.Glu827Gln)
c.*1942G>C (n.*1942G>C)
c.*1065G>C (n.*1065G>C)
c.1452G>C
c.2356G>C (p.Glu786Gln)
c.2467G>C (p.Glu823Gln)
c.2521G>C (p.Glu841Gln)
c.40G>C (p.Glu14Gln)
c.2410G>C (p.Glu804Gln)
n.582+5990C>G
c.2095G>C (p.Glu699Gln)
c.2092G>C (p.Glu698Gln)
n.2883G>C
n.2718G>C
n.601-2845C>G
n.475+7878C>G
n.600+5990C>G
3g.193662930G>TCA355793251OPA1c.2629G>T (p.Glu877Ter)
c.2464G>T (p.Glu822Ter)
c.2575G>T (p.Glu859Ter)
c.2518G>T (p.Glu840Ter)
c.2403G>T
c.*689G>T (n.*689G>T)
c.2146G>T (p.Glu716Ter)
c.*2545G>T (n.*2545G>T)
c.2051G>T
c.*948G>T (n.*948G>T)
c.2458G>T
c.2479G>T (p.Glu827Ter)
c.*1942G>T (n.*1942G>T)
c.*1065G>T (n.*1065G>T)
c.1452G>T
c.2356G>T (p.Glu786Ter)
c.2467G>T (p.Glu823Ter)
c.2521G>T (p.Glu841Ter)
c.40G>T (p.Glu14Ter)
c.2410G>T (p.Glu804Ter)
n.582+5990C>A
c.2095G>T (p.Glu699Ter)
c.2092G>T (p.Glu698Ter)
n.2883G>T
n.2718G>T
n.601-2845C>A
n.475+7878C>A
n.600+5990C>A
3g.193662930dupCA90554531OPA1c.2629dup (p.Glu877GlyfsTer13)
c.2464dup (p.Glu822GlyfsTer13)
c.2575dup (p.Glu859GlyfsTer13)
c.2518dup (p.Glu840GlyfsTer13)
c.2403dup
c.*689dup (n.*689dup)
c.2146dup (p.Glu716GlyfsTer13)
c.*2545dup (n.*2545dup)
c.2051dup
c.*948dup (n.*948dup)
c.2458dup
c.2479dup (p.Glu827GlyfsTer13)
c.*1942dup (n.*1942dup)
c.*1065dup (n.*1065dup)
c.1452dup
c.2356dup (p.Glu786GlyfsTer13)
c.2467dup (p.Glu823GlyfsTer13)
c.2521dup (p.Glu841GlyfsTer13)
c.40dup (p.Glu14GlyfsTer13)
c.2410dup (p.Glu804GlyfsTer13)
n.582+5990dup
c.2095dup (p.Glu699GlyfsTer13)
c.2092dup (p.Glu698GlyfsTer13)
n.2883dup
n.2718dup
n.601-2845dup
n.475+7878dup
n.600+5990dup
 dbSNP
3g.193662931A=CA1430270699OPA1c.2630A= (p.Glu877=)
c.2465A= (p.Glu822=)
c.2576A= (p.Glu859=)
c.2519A= (p.Glu840=)
c.2404A=
c.*690A= (n.*690A=)
c.2147A= (p.Glu716=)
c.*2546A= (n.*2546A=)
c.2052A=
c.*949A= (n.*949A=)
c.2459A=
c.2480A= (p.Glu827=)
c.*1943A= (n.*1943A=)
c.*1066A= (n.*1066A=)
c.1453A=
c.2357A= (p.Glu786=)
c.2468A= (p.Glu823=)
c.2522A= (p.Glu841=)
c.41A= (p.Glu14=)
c.2411A= (p.Glu804=)
n.582+5989T=
c.2096A= (p.Glu699=)
c.2093A= (p.Glu698=)
n.2884A=
n.2719A=
n.601-2846T=
n.475+7877T=
n.600+5989T=
3g.193662931A>CCA355793253OPA1c.2630A>C (p.Glu877Ala)
c.2465A>C (p.Glu822Ala)
c.2576A>C (p.Glu859Ala)
c.2519A>C (p.Glu840Ala)
c.2404A>C
c.*690A>C (n.*690A>C)
c.2147A>C (p.Glu716Ala)
c.*2546A>C (n.*2546A>C)
c.2052A>C
c.*949A>C (n.*949A>C)
c.2459A>C
c.2480A>C (p.Glu827Ala)
c.*1943A>C (n.*1943A>C)
c.*1066A>C (n.*1066A>C)
c.1453A>C
c.2357A>C (p.Glu786Ala)
c.2468A>C (p.Glu823Ala)
c.2522A>C (p.Glu841Ala)
c.41A>C (p.Glu14Ala)
c.2411A>C (p.Glu804Ala)
n.582+5989T>G
c.2096A>C (p.Glu699Ala)
c.2093A>C (p.Glu698Ala)
n.2884A>C
n.2719A>C
n.601-2846T>G
n.475+7877T>G
n.600+5989T>G
3g.193662931A>GCA355793254OPA1c.2630A>G (p.Glu877Gly)
c.2465A>G (p.Glu822Gly)
c.2576A>G (p.Glu859Gly)
c.2519A>G (p.Glu840Gly)
c.2404A>G
c.*690A>G (n.*690A>G)
c.2147A>G (p.Glu716Gly)
c.*2546A>G (n.*2546A>G)
c.2052A>G
c.*949A>G (n.*949A>G)
c.2459A>G
c.2480A>G (p.Glu827Gly)
c.*1943A>G (n.*1943A>G)
c.*1066A>G (n.*1066A>G)
c.1453A>G
c.2357A>G (p.Glu786Gly)
c.2468A>G (p.Glu823Gly)
c.2522A>G (p.Glu841Gly)
c.41A>G (p.Glu14Gly)
c.2411A>G (p.Glu804Gly)
n.582+5989T>C
c.2096A>G (p.Glu699Gly)
c.2093A>G (p.Glu698Gly)
n.2884A>G
n.2719A>G
n.601-2846T>C
n.475+7877T>C
n.600+5989T>C
3g.193662931A>TCA2759708OPA1c.2630A>T (p.Glu877Val)
c.2465A>T (p.Glu822Val)
c.2576A>T (p.Glu859Val)
c.2519A>T (p.Glu840Val)
c.2404A>T
c.*690A>T (n.*690A>T)
c.2147A>T (p.Glu716Val)
c.*2546A>T (n.*2546A>T)
c.2052A>T
c.*949A>T (n.*949A>T)
c.2459A>T
c.2480A>T (p.Glu827Val)
c.*1943A>T (n.*1943A>T)
c.*1066A>T (n.*1066A>T)
c.1453A>T
c.2357A>T (p.Glu786Val)
c.2468A>T (p.Glu823Val)
c.2522A>T (p.Glu841Val)
c.41A>T (p.Glu14Val)
c.2411A>T (p.Glu804Val)
n.582+5989T>A
c.2096A>T (p.Glu699Val)
c.2093A>T (p.Glu698Val)
n.2884A>T
n.2719A>T
n.601-2846T>A
n.475+7877T>A
n.600+5989T>A
 dbSNP ExAC gnomAD v3 gnomAD v4
3g.193662932delCA2580070536OPA1c.2631del (p.Glu877AspfsTer5)
c.2466del (p.Glu822AspfsTer5)
c.2577del (p.Glu859AspfsTer5)
c.2520del (p.Glu840AspfsTer5)
c.2405del
c.*691del (n.*691del)
c.2148del (p.Glu716AspfsTer5)
c.*2547del (n.*2547del)
c.2053del
c.*950del (n.*950del)
c.2460del
c.2481del (p.Glu827AspfsTer5)
c.*1944del (n.*1944del)
c.*1067del (n.*1067del)
c.1454del
c.2358del (p.Glu786AspfsTer5)
c.2469del (p.Glu823AspfsTer5)
c.2523del (p.Glu841AspfsTer5)
c.42del (p.Glu14AspfsTer5)
c.2412del (p.Glu804AspfsTer5)
n.582+5989del
c.2097del (p.Glu699AspfsTer5)
c.2094del (p.Glu698AspfsTer5)
n.2885del
n.2720del
n.601-2846del
n.475+7877del
n.600+5989del
 ClinVar
3g.193662932A=CA1430270700OPA1c.2631A= (p.Glu877=)
c.2466A= (p.Glu822=)
c.2577A= (p.Glu859=)
c.2520A= (p.Glu840=)
c.2405A=
c.*691A= (n.*691A=)
c.2148A= (p.Glu716=)
c.*2547A= (n.*2547A=)
c.2053A=
c.*950A= (n.*950A=)
c.2460A=
c.2481A= (p.Glu827=)
c.*1944A= (n.*1944A=)
c.*1067A= (n.*1067A=)
c.1454A=
c.2358A= (p.Glu786=)
c.2469A= (p.Glu823=)
c.2523A= (p.Glu841=)
c.42A= (p.Glu14=)
c.2412A= (p.Glu804=)
n.582+5988T=
c.2097A= (p.Glu699=)
c.2094A= (p.Glu698=)
n.2885A=
n.2720A=
n.601-2847T=
n.475+7876T=
n.600+5988T=
3g.193662932A>CCA355793255OPA1c.2631A>C (p.Glu877Asp)
c.2466A>C (p.Glu822Asp)
c.2577A>C (p.Glu859Asp)
c.2520A>C (p.Glu840Asp)
c.2405A>C
c.*691A>C (n.*691A>C)
c.2148A>C (p.Glu716Asp)
c.*2547A>C (n.*2547A>C)
c.2053A>C
c.*950A>C (n.*950A>C)
c.2460A>C
c.2481A>C (p.Glu827Asp)
c.*1944A>C (n.*1944A>C)
c.*1067A>C (n.*1067A>C)
c.1454A>C
c.2358A>C (p.Glu786Asp)
c.2469A>C (p.Glu823Asp)
c.2523A>C (p.Glu841Asp)
c.42A>C (p.Glu14Asp)
c.2412A>C (p.Glu804Asp)
n.582+5988T>G
c.2097A>C (p.Glu699Asp)
c.2094A>C (p.Glu698Asp)
n.2885A>C
n.2720A>C
n.601-2847T>G
n.475+7876T>G
n.600+5988T>G
3g.193662932A>GCA437441644OPA1c.2631A>G (p.Glu877=)
c.2466A>G (p.Glu822=)
c.2577A>G (p.Glu859=)
c.2520A>G (p.Glu840=)
c.2405A>G
c.*691A>G (n.*691A>G)
c.2148A>G (p.Glu716=)
c.*2547A>G (n.*2547A>G)
c.2053A>G
c.*950A>G (n.*950A>G)
c.2460A>G
c.2481A>G (p.Glu827=)
c.*1944A>G (n.*1944A>G)
c.*1067A>G (n.*1067A>G)
c.1454A>G
c.2358A>G (p.Glu786=)
c.2469A>G (p.Glu823=)
c.2523A>G (p.Glu841=)
c.42A>G (p.Glu14=)
c.2412A>G (p.Glu804=)
n.582+5988T>C
c.2097A>G (p.Glu699=)
c.2094A>G (p.Glu698=)
n.2885A>G
n.2720A>G
n.601-2847T>C
n.475+7876T>C
n.600+5988T>C
 dbSNP gnomAD v2 gnomAD v4
3g.193662932A>TCA355793256OPA1c.2631A>T (p.Glu877Asp)
c.2466A>T (p.Glu822Asp)
c.2577A>T (p.Glu859Asp)
c.2520A>T (p.Glu840Asp)
c.2405A>T
c.*691A>T (n.*691A>T)
c.2148A>T (p.Glu716Asp)
c.*2547A>T (n.*2547A>T)
c.2053A>T
c.*950A>T (n.*950A>T)
c.2460A>T
c.2481A>T (p.Glu827Asp)
c.*1944A>T (n.*1944A>T)
c.*1067A>T (n.*1067A>T)
c.1454A>T
c.2358A>T (p.Glu786Asp)
c.2469A>T (p.Glu823Asp)
c.2523A>T (p.Glu841Asp)
c.42A>T (p.Glu14Asp)
c.2412A>T (p.Glu804Asp)
n.582+5988T>A
c.2097A>T (p.Glu699Asp)
c.2094A>T (p.Glu698Asp)
n.2885A>T
n.2720A>T
n.601-2847T>A
n.475+7876T>A
n.600+5988T>A

Number of alleles fetched