Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
3g.193662933T>ACA355793257OPA1c.2632T>A (p.Ser878Thr)
c.2467T>A (p.Ser823Thr)
c.2578T>A (p.Ser860Thr)
c.2521T>A (p.Ser841Thr)
c.2406T>A
c.*692T>A (n.*692T>A)
c.2149T>A (p.Ser717Thr)
c.*2548T>A (n.*2548T>A)
c.2054T>A
c.*951T>A (n.*951T>A)
c.2461T>A
c.2482T>A (p.Ser828Thr)
c.*1945T>A (n.*1945T>A)
c.*1068T>A (n.*1068T>A)
c.1455T>A
c.2359T>A (p.Ser787Thr)
c.2470T>A (p.Ser824Thr)
c.2524T>A (p.Ser842Thr)
c.43T>A (p.Ser15Thr)
c.2413T>A (p.Ser805Thr)
n.582+5987A>T
c.2098T>A (p.Ser700Thr)
c.2095T>A (p.Ser699Thr)
n.2886T>A
n.2721T>A
n.601-2848A>T
n.475+7875A>T
n.600+5987A>T
3g.193662933T>CCA2759709OPA1c.2632T>C (p.Ser878Pro)
c.2467T>C (p.Ser823Pro)
c.2578T>C (p.Ser860Pro)
c.2521T>C (p.Ser841Pro)
c.2406T>C
c.*692T>C (n.*692T>C)
c.2149T>C (p.Ser717Pro)
c.*2548T>C (n.*2548T>C)
c.2054T>C
c.*951T>C (n.*951T>C)
c.2461T>C
c.2482T>C (p.Ser828Pro)
c.*1945T>C (n.*1945T>C)
c.*1068T>C (n.*1068T>C)
c.1455T>C
c.2359T>C (p.Ser787Pro)
c.2470T>C (p.Ser824Pro)
c.2524T>C (p.Ser842Pro)
c.43T>C (p.Ser15Pro)
c.2413T>C (p.Ser805Pro)
n.582+5987A>G
c.2098T>C (p.Ser700Pro)
c.2095T>C (p.Ser699Pro)
n.2886T>C
n.2721T>C
n.601-2848A>G
n.475+7875A>G
n.600+5987A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.193662933T>GCA355793258OPA1c.2632T>G (p.Ser878Ala)
c.2467T>G (p.Ser823Ala)
c.2578T>G (p.Ser860Ala)
c.2521T>G (p.Ser841Ala)
c.2406T>G
c.*692T>G (n.*692T>G)
c.2149T>G (p.Ser717Ala)
c.*2548T>G (n.*2548T>G)
c.2054T>G
c.*951T>G (n.*951T>G)
c.2461T>G
c.2482T>G (p.Ser828Ala)
c.*1945T>G (n.*1945T>G)
c.*1068T>G (n.*1068T>G)
c.1455T>G
c.2359T>G (p.Ser787Ala)
c.2470T>G (p.Ser824Ala)
c.2524T>G (p.Ser842Ala)
c.43T>G (p.Ser15Ala)
c.2413T>G (p.Ser805Ala)
n.582+5987A>C
c.2098T>G (p.Ser700Ala)
c.2095T>G (p.Ser699Ala)
n.2886T>G
n.2721T>G
n.601-2848A>C
n.475+7875A>C
n.600+5987A>C
3g.193662933T=CA1430270702OPA1c.2632T= (p.Ser878=)
c.2467T= (p.Ser823=)
c.2578T= (p.Ser860=)
c.2521T= (p.Ser841=)
c.2406T=
c.*692T= (n.*692T=)
c.2149T= (p.Ser717=)
c.*2548T= (n.*2548T=)
c.2054T=
c.*951T= (n.*951T=)
c.2461T=
c.2482T= (p.Ser828=)
c.*1945T= (n.*1945T=)
c.*1068T= (n.*1068T=)
c.1455T=
c.2359T= (p.Ser787=)
c.2470T= (p.Ser824=)
c.2524T= (p.Ser842=)
c.43T= (p.Ser15=)
c.2413T= (p.Ser805=)
n.582+5987A=
c.2098T= (p.Ser700=)
c.2095T= (p.Ser699=)
n.2886T=
n.2721T=
n.601-2848A=
n.475+7875A=
n.600+5987A=
3g.193662934C>ACA355793259OPA1c.2633C>A (p.Ser878Tyr)
c.2468C>A (p.Ser823Tyr)
c.2579C>A (p.Ser860Tyr)
c.2522C>A (p.Ser841Tyr)
c.2407C>A
c.*693C>A (n.*693C>A)
c.2150C>A (p.Ser717Tyr)
c.*2549C>A (n.*2549C>A)
c.2055C>A
c.*952C>A (n.*952C>A)
c.2462C>A
c.2483C>A (p.Ser828Tyr)
c.*1946C>A (n.*1946C>A)
c.*1069C>A (n.*1069C>A)
c.1456C>A
c.2360C>A (p.Ser787Tyr)
c.2471C>A (p.Ser824Tyr)
c.2525C>A (p.Ser842Tyr)
c.44C>A (p.Ser15Tyr)
c.2414C>A (p.Ser805Tyr)
n.582+5986G>T
c.2099C>A (p.Ser700Tyr)
c.2096C>A (p.Ser699Tyr)
n.2887C>A
n.2722C>A
n.601-2849G>T
n.475+7874G>T
n.600+5986G>T
3g.193662934C>GCA355793260OPA1c.2633C>G (p.Ser878Cys)
c.2468C>G (p.Ser823Cys)
c.2579C>G (p.Ser860Cys)
c.2522C>G (p.Ser841Cys)
c.2407C>G
c.*693C>G (n.*693C>G)
c.2150C>G (p.Ser717Cys)
c.*2549C>G (n.*2549C>G)
c.2055C>G
c.*952C>G (n.*952C>G)
c.2462C>G
c.2483C>G (p.Ser828Cys)
c.*1946C>G (n.*1946C>G)
c.*1069C>G (n.*1069C>G)
c.1456C>G
c.2360C>G (p.Ser787Cys)
c.2471C>G (p.Ser824Cys)
c.2525C>G (p.Ser842Cys)
c.44C>G (p.Ser15Cys)
c.2414C>G (p.Ser805Cys)
n.582+5986G>C
c.2099C>G (p.Ser700Cys)
c.2096C>G (p.Ser699Cys)
n.2887C>G
n.2722C>G
n.601-2849G>C
n.475+7874G>C
n.600+5986G>C
3g.193662934C>TCA355793261OPA1c.2633C>T (p.Ser878Phe)
c.2468C>T (p.Ser823Phe)
c.2579C>T (p.Ser860Phe)
c.2522C>T (p.Ser841Phe)
c.2407C>T
c.*693C>T (n.*693C>T)
c.2150C>T (p.Ser717Phe)
c.*2549C>T (n.*2549C>T)
c.2055C>T
c.*952C>T (n.*952C>T)
c.2462C>T
c.2483C>T (p.Ser828Phe)
c.*1946C>T (n.*1946C>T)
c.*1069C>T (n.*1069C>T)
c.1456C>T
c.2360C>T (p.Ser787Phe)
c.2471C>T (p.Ser824Phe)
c.2525C>T (p.Ser842Phe)
c.44C>T (p.Ser15Phe)
c.2414C>T (p.Ser805Phe)
n.582+5986G>A
c.2099C>T (p.Ser700Phe)
c.2096C>T (p.Ser699Phe)
n.2887C>T
n.2722C>T
n.601-2849G>A
n.475+7874G>A
n.600+5986G>A
3g.193662935C>ACA437441647OPA1c.2634C>A (p.Ser878=)
c.2469C>A (p.Ser823=)
c.2580C>A (p.Ser860=)
c.2523C>A (p.Ser841=)
c.2408C>A
c.*694C>A (n.*694C>A)
c.2151C>A (p.Ser717=)
c.*2550C>A (n.*2550C>A)
c.2056C>A
c.*953C>A (n.*953C>A)
c.2463C>A
c.2484C>A (p.Ser828=)
c.*1947C>A (n.*1947C>A)
c.*1070C>A (n.*1070C>A)
c.1457C>A
c.2361C>A (p.Ser787=)
c.2472C>A (p.Ser824=)
c.2526C>A (p.Ser842=)
c.45C>A (p.Ser15=)
c.2415C>A (p.Ser805=)
n.582+5985G>T
c.2100C>A (p.Ser700=)
c.2097C>A (p.Ser699=)
n.2888C>A
n.2723C>A
n.601-2850G>T
n.475+7873G>T
n.600+5985G>T
3g.193662935C>GCA437441648OPA1c.2634C>G (p.Ser878=)
c.2469C>G (p.Ser823=)
c.2580C>G (p.Ser860=)
c.2523C>G (p.Ser841=)
c.2408C>G
c.*694C>G (n.*694C>G)
c.2151C>G (p.Ser717=)
c.*2550C>G (n.*2550C>G)
c.2056C>G
c.*953C>G (n.*953C>G)
c.2463C>G
c.2484C>G (p.Ser828=)
c.*1947C>G (n.*1947C>G)
c.*1070C>G (n.*1070C>G)
c.1457C>G
c.2361C>G (p.Ser787=)
c.2472C>G (p.Ser824=)
c.2526C>G (p.Ser842=)
c.45C>G (p.Ser15=)
c.2415C>G (p.Ser805=)
n.582+5985G>C
c.2100C>G (p.Ser700=)
c.2097C>G (p.Ser699=)
n.2888C>G
n.2723C>G
n.601-2850G>C
n.475+7873G>C
n.600+5985G>C
 ClinVar
3g.193662935C>TCA437441650OPA1c.2634C>T (p.Ser878=)
c.2469C>T (p.Ser823=)
c.2580C>T (p.Ser860=)
c.2523C>T (p.Ser841=)
c.2408C>T
c.*694C>T (n.*694C>T)
c.2151C>T (p.Ser717=)
c.*2550C>T (n.*2550C>T)
c.2056C>T
c.*953C>T (n.*953C>T)
c.2463C>T
c.2484C>T (p.Ser828=)
c.*1947C>T (n.*1947C>T)
c.*1070C>T (n.*1070C>T)
c.1457C>T
c.2361C>T (p.Ser787=)
c.2472C>T (p.Ser824=)
c.2526C>T (p.Ser842=)
c.45C>T (p.Ser15=)
c.2415C>T (p.Ser805=)
n.582+5985G>A
c.2100C>T (p.Ser700=)
c.2097C>T (p.Ser699=)
n.2888C>T
n.2723C>T
n.601-2850G>A
n.475+7873G>A
n.600+5985G>A
3g.193662936C>ACA437441652OPA1c.2635C>A (p.Arg879=)
c.2470C>A (p.Arg824=)
c.2581C>A (p.Arg861=)
c.2524C>A (p.Arg842=)
c.2409C>A
c.*695C>A (n.*695C>A)
c.2152C>A (p.Arg718=)
c.*2551C>A (n.*2551C>A)
c.2057C>A
c.*954C>A (n.*954C>A)
c.2464C>A
c.2485C>A (p.Arg829=)
c.*1948C>A (n.*1948C>A)
c.*1071C>A (n.*1071C>A)
c.1458C>A
c.2362C>A (p.Arg788=)
c.2473C>A (p.Arg825=)
c.2527C>A (p.Arg843=)
c.46C>A (p.Arg16=)
c.2416C>A (p.Arg806=)
n.582+5984G>T
c.2101C>A (p.Arg701=)
c.2098C>A (p.Arg700=)
n.2889C>A
n.2724C>A
n.601-2851G>T
n.475+7872G>T
n.600+5984G>T
3g.193662936C=CA1430270704OPA1c.2635C= (p.Arg879=)
c.2470C= (p.Arg824=)
c.2581C= (p.Arg861=)
c.2524C= (p.Arg842=)
c.2409C=
c.*695C= (n.*695C=)
c.2152C= (p.Arg718=)
c.*2551C= (n.*2551C=)
c.2057C=
c.*954C= (n.*954C=)
c.2464C=
c.2485C= (p.Arg829=)
c.*1948C= (n.*1948C=)
c.*1071C= (n.*1071C=)
c.1458C=
c.2362C= (p.Arg788=)
c.2473C= (p.Arg825=)
c.2527C= (p.Arg843=)
c.46C= (p.Arg16=)
c.2416C= (p.Arg806=)
n.582+5984G=
c.2101C= (p.Arg701=)
c.2098C= (p.Arg700=)
n.2889C=
n.2724C=
n.601-2851G=
n.475+7872G=
n.600+5984G=
3g.193662936C>GCA355793262OPA1c.2635C>G (p.Arg879Gly)
c.2470C>G (p.Arg824Gly)
c.2581C>G (p.Arg861Gly)
c.2524C>G (p.Arg842Gly)
c.2409C>G
c.*695C>G (n.*695C>G)
c.2152C>G (p.Arg718Gly)
c.*2551C>G (n.*2551C>G)
c.2057C>G
c.*954C>G (n.*954C>G)
c.2464C>G
c.2485C>G (p.Arg829Gly)
c.*1948C>G (n.*1948C>G)
c.*1071C>G (n.*1071C>G)
c.1458C>G
c.2362C>G (p.Arg788Gly)
c.2473C>G (p.Arg825Gly)
c.2527C>G (p.Arg843Gly)
c.46C>G (p.Arg16Gly)
c.2416C>G (p.Arg806Gly)
n.582+5984G>C
c.2101C>G (p.Arg701Gly)
c.2098C>G (p.Arg700Gly)
n.2889C>G
n.2724C>G
n.601-2851G>C
n.475+7872G>C
n.600+5984G>C
3g.193662936C>TCA10576005OPA1c.2635C>T (p.Arg879Ter)
c.2470C>T (p.Arg824Ter)
c.2581C>T (p.Arg861Ter)
c.2524C>T (p.Arg842Ter)
c.2409C>T
c.*695C>T (n.*695C>T)
c.2152C>T (p.Arg718Ter)
c.*2551C>T (n.*2551C>T)
c.2057C>T
c.*954C>T (n.*954C>T)
c.2464C>T
c.2485C>T (p.Arg829Ter)
c.*1948C>T (n.*1948C>T)
c.*1071C>T (n.*1071C>T)
c.1458C>T
c.2362C>T (p.Arg788Ter)
c.2473C>T (p.Arg825Ter)
c.2527C>T (p.Arg843Ter)
c.46C>T (p.Arg16Ter)
c.2416C>T (p.Arg806Ter)
n.582+5984G>A
c.2101C>T (p.Arg701Ter)
c.2098C>T (p.Arg700Ter)
n.2889C>T
n.2724C>T
n.601-2851G>A
n.475+7872G>A
n.600+5984G>A
 ClinVar dbSNP gnomAD v4
3g.193662937G>ACA323895OPA1c.2636G>A (p.Arg879Gln)
c.2471G>A (p.Arg824Gln)
c.2582G>A (p.Arg861Gln)
c.2525G>A (p.Arg842Gln)
c.2410G>A
c.*696G>A (n.*696G>A)
c.2153G>A (p.Arg718Gln)
c.*2552G>A (n.*2552G>A)
c.2058G>A
c.*955G>A (n.*955G>A)
c.2465G>A
c.2486G>A (p.Arg829Gln)
c.*1949G>A (n.*1949G>A)
c.*1072G>A (n.*1072G>A)
c.1459G>A
c.2363G>A (p.Arg788Gln)
c.2474G>A (p.Arg825Gln)
c.2528G>A (p.Arg843Gln)
c.47G>A (p.Arg16Gln)
c.2417G>A (p.Arg806Gln)
n.582+5983C>T
c.2102G>A (p.Arg701Gln)
c.2099G>A (p.Arg700Gln)
n.2890G>A
n.2725G>A
n.601-2852C>T
n.475+7871C>T
n.600+5983C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.193662937G>CCA355793263OPA1c.2636G>C (p.Arg879Pro)
c.2471G>C (p.Arg824Pro)
c.2582G>C (p.Arg861Pro)
c.2525G>C (p.Arg842Pro)
c.2410G>C
c.*696G>C (n.*696G>C)
c.2153G>C (p.Arg718Pro)
c.*2552G>C (n.*2552G>C)
c.2058G>C
c.*955G>C (n.*955G>C)
c.2465G>C
c.2486G>C (p.Arg829Pro)
c.*1949G>C (n.*1949G>C)
c.*1072G>C (n.*1072G>C)
c.1459G>C
c.2363G>C (p.Arg788Pro)
c.2474G>C (p.Arg825Pro)
c.2528G>C (p.Arg843Pro)
c.47G>C (p.Arg16Pro)
c.2417G>C (p.Arg806Pro)
n.582+5983C>G
c.2102G>C (p.Arg701Pro)
c.2099G>C (p.Arg700Pro)
n.2890G>C
n.2725G>C
n.601-2852C>G
n.475+7871C>G
n.600+5983C>G
3g.193662937G=CA1430270707OPA1c.2636G= (p.Arg879=)
c.2471G= (p.Arg824=)
c.2582G= (p.Arg861=)
c.2525G= (p.Arg842=)
c.2410G=
c.*696G= (n.*696G=)
c.2153G= (p.Arg718=)
c.*2552G= (n.*2552G=)
c.2058G=
c.*955G= (n.*955G=)
c.2465G=
c.2486G= (p.Arg829=)
c.*1949G= (n.*1949G=)
c.*1072G= (n.*1072G=)
c.1459G=
c.2363G= (p.Arg788=)
c.2474G= (p.Arg825=)
c.2528G= (p.Arg843=)
c.47G= (p.Arg16=)
c.2417G= (p.Arg806=)
n.582+5983C=
c.2102G= (p.Arg701=)
c.2099G= (p.Arg700=)
n.2890G=
n.2725G=
n.601-2852C=
n.475+7871C=
n.600+5983C=
3g.193662937G>TCA355793264OPA1c.2636G>T (p.Arg879Leu)
c.2471G>T (p.Arg824Leu)
c.2582G>T (p.Arg861Leu)
c.2525G>T (p.Arg842Leu)
c.2410G>T
c.*696G>T (n.*696G>T)
c.2153G>T (p.Arg718Leu)
c.*2552G>T (n.*2552G>T)
c.2058G>T
c.*955G>T (n.*955G>T)
c.2465G>T
c.2486G>T (p.Arg829Leu)
c.*1949G>T (n.*1949G>T)
c.*1072G>T (n.*1072G>T)
c.1459G>T
c.2363G>T (p.Arg788Leu)
c.2474G>T (p.Arg825Leu)
c.2528G>T (p.Arg843Leu)
c.47G>T (p.Arg16Leu)
c.2417G>T (p.Arg806Leu)
n.582+5983C>A
c.2102G>T (p.Arg701Leu)
c.2099G>T (p.Arg700Leu)
n.2890G>T
n.2725G>T
n.601-2852C>A
n.475+7871C>A
n.600+5983C>A
 gnomAD v4
3g.193662938A>CCA437441653OPA1c.2637A>C (p.Arg879=)
c.2472A>C (p.Arg824=)
c.2583A>C (p.Arg861=)
c.2526A>C (p.Arg842=)
c.2411A>C
c.*697A>C (n.*697A>C)
c.2154A>C (p.Arg718=)
c.*2553A>C (n.*2553A>C)
c.2059A>C
c.*956A>C (n.*956A>C)
c.2466A>C
c.2487A>C (p.Arg829=)
c.*1950A>C (n.*1950A>C)
c.*1073A>C (n.*1073A>C)
c.1460A>C
c.2364A>C (p.Arg788=)
c.2475A>C (p.Arg825=)
c.2529A>C (p.Arg843=)
c.48A>C (p.Arg16=)
c.2418A>C (p.Arg806=)
n.582+5982T>G
c.2103A>C (p.Arg701=)
c.2100A>C (p.Arg700=)
n.2891A>C
n.2726A>C
n.601-2853T>G
n.475+7870T>G
n.600+5982T>G
3g.193662938A>GCA437441655OPA1c.2637A>G (p.Arg879=)
c.2472A>G (p.Arg824=)
c.2583A>G (p.Arg861=)
c.2526A>G (p.Arg842=)
c.2411A>G
c.*697A>G (n.*697A>G)
c.2154A>G (p.Arg718=)
c.*2553A>G (n.*2553A>G)
c.2059A>G
c.*956A>G (n.*956A>G)
c.2466A>G
c.2487A>G (p.Arg829=)
c.*1950A>G (n.*1950A>G)
c.*1073A>G (n.*1073A>G)
c.1460A>G
c.2364A>G (p.Arg788=)
c.2475A>G (p.Arg825=)
c.2529A>G (p.Arg843=)
c.48A>G (p.Arg16=)
c.2418A>G (p.Arg806=)
n.582+5982T>C
c.2103A>G (p.Arg701=)
c.2100A>G (p.Arg700=)
n.2891A>G
n.2726A>G
n.601-2853T>C
n.475+7870T>C
n.600+5982T>C
3g.193662938A>TCA437441657OPA1c.2637A>T (p.Arg879=)
c.2472A>T (p.Arg824=)
c.2583A>T (p.Arg861=)
c.2526A>T (p.Arg842=)
c.2411A>T
c.*697A>T (n.*697A>T)
c.2154A>T (p.Arg718=)
c.*2553A>T (n.*2553A>T)
c.2059A>T
c.*956A>T (n.*956A>T)
c.2466A>T
c.2487A>T (p.Arg829=)
c.*1950A>T (n.*1950A>T)
c.*1073A>T (n.*1073A>T)
c.1460A>T
c.2364A>T (p.Arg788=)
c.2475A>T (p.Arg825=)
c.2529A>T (p.Arg843=)
c.48A>T (p.Arg16=)
c.2418A>T (p.Arg806=)
n.582+5982T>A
c.2103A>T (p.Arg701=)
c.2100A>T (p.Arg700=)
n.2891A>T
n.2726A>T
n.601-2853T>A
n.475+7870T>A
n.600+5982T>A
3g.193662939G>ACA355793265OPA1c.2638G>A (p.Gly880Arg)
c.2473G>A (p.Gly825Arg)
c.2584G>A (p.Gly862Arg)
c.2527G>A (p.Gly843Arg)
c.2412G>A
c.*698G>A (n.*698G>A)
c.2155G>A (p.Gly719Arg)
c.*2554G>A (n.*2554G>A)
c.2060G>A
c.*957G>A (n.*957G>A)
c.2467G>A
c.2488G>A (p.Gly830Arg)
c.*1951G>A (n.*1951G>A)
c.*1074G>A (n.*1074G>A)
c.1461G>A
c.2365G>A (p.Gly789Arg)
c.2476G>A (p.Gly826Arg)
c.2530G>A (p.Gly844Arg)
c.49G>A (p.Gly17Arg)
c.2419G>A (p.Gly807Arg)
n.582+5981C>T
c.2104G>A (p.Gly702Arg)
c.2101G>A (p.Gly701Arg)
n.2892G>A
n.2727G>A
n.601-2854C>T
n.475+7869C>T
n.600+5981C>T
3g.193662939G>CCA355793266OPA1c.2638G>C (p.Gly880Arg)
c.2473G>C (p.Gly825Arg)
c.2584G>C (p.Gly862Arg)
c.2527G>C (p.Gly843Arg)
c.2412G>C
c.*698G>C (n.*698G>C)
c.2155G>C (p.Gly719Arg)
c.*2554G>C (n.*2554G>C)
c.2060G>C
c.*957G>C (n.*957G>C)
c.2467G>C
c.2488G>C (p.Gly830Arg)
c.*1951G>C (n.*1951G>C)
c.*1074G>C (n.*1074G>C)
c.1461G>C
c.2365G>C (p.Gly789Arg)
c.2476G>C (p.Gly826Arg)
c.2530G>C (p.Gly844Arg)
c.49G>C (p.Gly17Arg)
c.2419G>C (p.Gly807Arg)
n.582+5981C>G
c.2104G>C (p.Gly702Arg)
c.2101G>C (p.Gly701Arg)
n.2892G>C
n.2727G>C
n.601-2854C>G
n.475+7869C>G
n.600+5981C>G
3g.193662939G>TCA355793267OPA1c.2638G>T (p.Gly880Ter)
c.2473G>T (p.Gly825Ter)
c.2584G>T (p.Gly862Ter)
c.2527G>T (p.Gly843Ter)
c.2412G>T
c.*698G>T (n.*698G>T)
c.2155G>T (p.Gly719Ter)
c.*2554G>T (n.*2554G>T)
c.2060G>T
c.*957G>T (n.*957G>T)
c.2467G>T
c.2488G>T (p.Gly830Ter)
c.*1951G>T (n.*1951G>T)
c.*1074G>T (n.*1074G>T)
c.1461G>T
c.2365G>T (p.Gly789Ter)
c.2476G>T (p.Gly826Ter)
c.2530G>T (p.Gly844Ter)
c.49G>T (p.Gly17Ter)
c.2419G>T (p.Gly807Ter)
n.582+5981C>A
c.2104G>T (p.Gly702Ter)
c.2101G>T (p.Gly701Ter)
n.2892G>T
n.2727G>T
n.601-2854C>A
n.475+7869C>A
n.600+5981C>A
3g.193662940G>ACA355793268OPA1c.2639G>A (p.Gly880Glu)
c.2474G>A (p.Gly825Glu)
c.2585G>A (p.Gly862Glu)
c.2528G>A (p.Gly843Glu)
c.2413G>A
c.*699G>A (n.*699G>A)
c.2156G>A (p.Gly719Glu)
c.*2555G>A (n.*2555G>A)
c.2061G>A
c.*958G>A (n.*958G>A)
c.2468G>A
c.2489G>A (p.Gly830Glu)
c.*1952G>A (n.*1952G>A)
c.*1075G>A (n.*1075G>A)
c.1462G>A
c.2366G>A (p.Gly789Glu)
c.2477G>A (p.Gly826Glu)
c.2531G>A (p.Gly844Glu)
c.50G>A (p.Gly17Glu)
c.2420G>A (p.Gly807Glu)
n.582+5980C>T
c.2105G>A (p.Gly702Glu)
c.2102G>A (p.Gly701Glu)
n.2893G>A
n.2728G>A
n.601-2855C>T
n.475+7868C>T
n.600+5980C>T
3g.193662940G>CCA355793269OPA1c.2639G>C (p.Gly880Ala)
c.2474G>C (p.Gly825Ala)
c.2585G>C (p.Gly862Ala)
c.2528G>C (p.Gly843Ala)
c.2413G>C
c.*699G>C (n.*699G>C)
c.2156G>C (p.Gly719Ala)
c.*2555G>C (n.*2555G>C)
c.2061G>C
c.*958G>C (n.*958G>C)
c.2468G>C
c.2489G>C (p.Gly830Ala)
c.*1952G>C (n.*1952G>C)
c.*1075G>C (n.*1075G>C)
c.1462G>C
c.2366G>C (p.Gly789Ala)
c.2477G>C (p.Gly826Ala)
c.2531G>C (p.Gly844Ala)
c.50G>C (p.Gly17Ala)
c.2420G>C (p.Gly807Ala)
n.582+5980C>G
c.2105G>C (p.Gly702Ala)
c.2102G>C (p.Gly701Ala)
n.2893G>C
n.2728G>C
n.601-2855C>G
n.475+7868C>G
n.600+5980C>G
 ClinVar
3g.193662940G>TCA355793270OPA1c.2639G>T (p.Gly880Val)
c.2474G>T (p.Gly825Val)
c.2585G>T (p.Gly862Val)
c.2528G>T (p.Gly843Val)
c.2413G>T
c.*699G>T (n.*699G>T)
c.2156G>T (p.Gly719Val)
c.*2555G>T (n.*2555G>T)
c.2061G>T
c.*958G>T (n.*958G>T)
c.2468G>T
c.2489G>T (p.Gly830Val)
c.*1952G>T (n.*1952G>T)
c.*1075G>T (n.*1075G>T)
c.1462G>T
c.2366G>T (p.Gly789Val)
c.2477G>T (p.Gly826Val)
c.2531G>T (p.Gly844Val)
c.50G>T (p.Gly17Val)
c.2420G>T (p.Gly807Val)
n.582+5980C>A
c.2105G>T (p.Gly702Val)
c.2102G>T (p.Gly701Val)
n.2893G>T
n.2728G>T
n.601-2855C>A
n.475+7868C>A
n.600+5980C>A
3g.193662941A=CA1430270710OPA1c.2640A= (p.Gly880=)
c.2475A= (p.Gly825=)
c.2586A= (p.Gly862=)
c.2529A= (p.Gly843=)
c.2414A=
c.*700A= (n.*700A=)
c.2157A= (p.Gly719=)
c.*2556A= (n.*2556A=)
c.2062A=
c.*959A= (n.*959A=)
c.2469A=
c.2490A= (p.Gly830=)
c.*1953A= (n.*1953A=)
c.*1076A= (n.*1076A=)
c.1463A=
c.2367A= (p.Gly789=)
c.2478A= (p.Gly826=)
c.2532A= (p.Gly844=)
c.51A= (p.Gly17=)
c.2421A= (p.Gly807=)
n.582+5979T=
c.2106A= (p.Gly702=)
c.2103A= (p.Gly701=)
n.2894A=
n.2729A=
n.601-2856T=
n.475+7867T=
n.600+5979T=
3g.193662941A>CCA2759710OPA1c.2640A>C (p.Gly880=)
c.2475A>C (p.Gly825=)
c.2586A>C (p.Gly862=)
c.2529A>C (p.Gly843=)
c.2414A>C
c.*700A>C (n.*700A>C)
c.2157A>C (p.Gly719=)
c.*2556A>C (n.*2556A>C)
c.2062A>C
c.*959A>C (n.*959A>C)
c.2469A>C
c.2490A>C (p.Gly830=)
c.*1953A>C (n.*1953A>C)
c.*1076A>C (n.*1076A>C)
c.1463A>C
c.2367A>C (p.Gly789=)
c.2478A>C (p.Gly826=)
c.2532A>C (p.Gly844=)
c.51A>C (p.Gly17=)
c.2421A>C (p.Gly807=)
n.582+5979T>G
c.2106A>C (p.Gly702=)
c.2103A>C (p.Gly701=)
n.2894A>C
n.2729A>C
n.601-2856T>G
n.475+7867T>G
n.600+5979T>G
 dbSNP ExAC gnomAD v2
3g.193662941A>GCA437441659OPA1c.2640A>G (p.Gly880=)
c.2475A>G (p.Gly825=)
c.2586A>G (p.Gly862=)
c.2529A>G (p.Gly843=)
c.2414A>G
c.*700A>G (n.*700A>G)
c.2157A>G (p.Gly719=)
c.*2556A>G (n.*2556A>G)
c.2062A>G
c.*959A>G (n.*959A>G)
c.2469A>G
c.2490A>G (p.Gly830=)
c.*1953A>G (n.*1953A>G)
c.*1076A>G (n.*1076A>G)
c.1463A>G
c.2367A>G (p.Gly789=)
c.2478A>G (p.Gly826=)
c.2532A>G (p.Gly844=)
c.51A>G (p.Gly17=)
c.2421A>G (p.Gly807=)
n.582+5979T>C
c.2106A>G (p.Gly702=)
c.2103A>G (p.Gly701=)
n.2894A>G
n.2729A>G
n.601-2856T>C
n.475+7867T>C
n.600+5979T>C
 dbSNP gnomAD v3 gnomAD v4
3g.193662941A>TCA437441661OPA1c.2640A>T (p.Gly880=)
c.2475A>T (p.Gly825=)
c.2586A>T (p.Gly862=)
c.2529A>T (p.Gly843=)
c.2414A>T
c.*700A>T (n.*700A>T)
c.2157A>T (p.Gly719=)
c.*2556A>T (n.*2556A>T)
c.2062A>T
c.*959A>T (n.*959A>T)
c.2469A>T
c.2490A>T (p.Gly830=)
c.*1953A>T (n.*1953A>T)
c.*1076A>T (n.*1076A>T)
c.1463A>T
c.2367A>T (p.Gly789=)
c.2478A>T (p.Gly826=)
c.2532A>T (p.Gly844=)
c.51A>T (p.Gly17=)
c.2421A>T (p.Gly807=)
n.582+5979T>A
c.2106A>T (p.Gly702=)
c.2103A>T (p.Gly701=)
n.2894A>T
n.2729A>T
n.601-2856T>A
n.475+7867T>A
n.600+5979T>A
3g.193662942G>ACA355793271OPA1c.2641G>A (p.Val881Ile)
c.2476G>A (p.Val826Ile)
c.2587G>A (p.Val863Ile)
c.2530G>A (p.Val844Ile)
c.2415G>A
c.*701G>A (n.*701G>A)
c.2158G>A (p.Val720Ile)
c.*2557G>A (n.*2557G>A)
c.2063G>A
c.*960G>A (n.*960G>A)
c.2470G>A
c.2491G>A (p.Val831Ile)
c.*1954G>A (n.*1954G>A)
c.*1077G>A (n.*1077G>A)
c.1464G>A
c.2368G>A (p.Val790Ile)
c.2479G>A (p.Val827Ile)
c.2533G>A (p.Val845Ile)
c.52G>A (p.Val18Ile)
c.2422G>A (p.Val808Ile)
n.582+5978C>T
c.2107G>A (p.Val703Ile)
c.2104G>A (p.Val702Ile)
n.2895G>A
n.2730G>A
n.601-2857C>T
n.475+7866C>T
n.600+5978C>T
3g.193662942G>CCA355793272OPA1c.2641G>C (p.Val881Leu)
c.2476G>C (p.Val826Leu)
c.2587G>C (p.Val863Leu)
c.2530G>C (p.Val844Leu)
c.2415G>C
c.*701G>C (n.*701G>C)
c.2158G>C (p.Val720Leu)
c.*2557G>C (n.*2557G>C)
c.2063G>C
c.*960G>C (n.*960G>C)
c.2470G>C
c.2491G>C (p.Val831Leu)
c.*1954G>C (n.*1954G>C)
c.*1077G>C (n.*1077G>C)
c.1464G>C
c.2368G>C (p.Val790Leu)
c.2479G>C (p.Val827Leu)
c.2533G>C (p.Val845Leu)
c.52G>C (p.Val18Leu)
c.2422G>C (p.Val808Leu)
n.582+5978C>G
c.2107G>C (p.Val703Leu)
c.2104G>C (p.Val702Leu)
n.2895G>C
n.2730G>C
n.601-2857C>G
n.475+7866C>G
n.600+5978C>G
3g.193662942G>TCA355793273OPA1c.2641G>T (p.Val881Leu)
c.2476G>T (p.Val826Leu)
c.2587G>T (p.Val863Leu)
c.2530G>T (p.Val844Leu)
c.2415G>T
c.*701G>T (n.*701G>T)
c.2158G>T (p.Val720Leu)
c.*2557G>T (n.*2557G>T)
c.2063G>T
c.*960G>T (n.*960G>T)
c.2470G>T
c.2491G>T (p.Val831Leu)
c.*1954G>T (n.*1954G>T)
c.*1077G>T (n.*1077G>T)
c.1464G>T
c.2368G>T (p.Val790Leu)
c.2479G>T (p.Val827Leu)
c.2533G>T (p.Val845Leu)
c.52G>T (p.Val18Leu)
c.2422G>T (p.Val808Leu)
n.582+5978C>A
c.2107G>T (p.Val703Leu)
c.2104G>T (p.Val702Leu)
n.2895G>T
n.2730G>T
n.601-2857C>A
n.475+7866C>A
n.600+5978C>A
3g.193662943T>ACA355793274OPA1c.2642T>A (p.Val881Glu)
c.2477T>A (p.Val826Glu)
c.2588T>A (p.Val863Glu)
c.2531T>A (p.Val844Glu)
c.2416T>A
c.*702T>A (n.*702T>A)
c.2159T>A (p.Val720Glu)
c.*2558T>A (n.*2558T>A)
c.2064T>A
c.*961T>A (n.*961T>A)
c.2471T>A
c.2492T>A (p.Val831Glu)
c.*1955T>A (n.*1955T>A)
c.*1078T>A (n.*1078T>A)
c.1465T>A
c.2369T>A (p.Val790Glu)
c.2480T>A (p.Val827Glu)
c.2534T>A (p.Val845Glu)
c.53T>A (p.Val18Glu)
c.2423T>A (p.Val808Glu)
n.582+5977A>T
c.2108T>A (p.Val703Glu)
c.2105T>A (p.Val702Glu)
n.2896T>A
n.2731T>A
n.601-2858A>T
n.475+7865A>T
n.600+5977A>T
3g.193662943T>CCA355793276OPA1c.2642T>C (p.Val881Ala)
c.2477T>C (p.Val826Ala)
c.2588T>C (p.Val863Ala)
c.2531T>C (p.Val844Ala)
c.2416T>C
c.*702T>C (n.*702T>C)
c.2159T>C (p.Val720Ala)
c.*2558T>C (n.*2558T>C)
c.2064T>C
c.*961T>C (n.*961T>C)
c.2471T>C
c.2492T>C (p.Val831Ala)
c.*1955T>C (n.*1955T>C)
c.*1078T>C (n.*1078T>C)
c.1465T>C
c.2369T>C (p.Val790Ala)
c.2480T>C (p.Val827Ala)
c.2534T>C (p.Val845Ala)
c.53T>C (p.Val18Ala)
c.2423T>C (p.Val808Ala)
n.582+5977A>G
c.2108T>C (p.Val703Ala)
c.2105T>C (p.Val702Ala)
n.2896T>C
n.2731T>C
n.601-2858A>G
n.475+7865A>G
n.600+5977A>G
 ClinVar gnomAD v4
3g.193662943T>GCA355793275OPA1c.2642T>G (p.Val881Gly)
c.2477T>G (p.Val826Gly)
c.2588T>G (p.Val863Gly)
c.2531T>G (p.Val844Gly)
c.2416T>G
c.*702T>G (n.*702T>G)
c.2159T>G (p.Val720Gly)
c.*2558T>G (n.*2558T>G)
c.2064T>G
c.*961T>G (n.*961T>G)
c.2471T>G
c.2492T>G (p.Val831Gly)
c.*1955T>G (n.*1955T>G)
c.*1078T>G (n.*1078T>G)
c.1465T>G
c.2369T>G (p.Val790Gly)
c.2480T>G (p.Val827Gly)
c.2534T>G (p.Val845Gly)
c.53T>G (p.Val18Gly)
c.2423T>G (p.Val808Gly)
n.582+5977A>C
c.2108T>G (p.Val703Gly)
c.2105T>G (p.Val702Gly)
n.2896T>G
n.2731T>G
n.601-2858A>C
n.475+7865A>C
n.600+5977A>C
 dbSNP gnomAD v3 gnomAD v4
3g.193662943T=CA1430270712OPA1c.2642T= (p.Val881=)
c.2477T= (p.Val826=)
c.2588T= (p.Val863=)
c.2531T= (p.Val844=)
c.2416T=
c.*702T= (n.*702T=)
c.2159T= (p.Val720=)
c.*2558T= (n.*2558T=)
c.2064T=
c.*961T= (n.*961T=)
c.2471T=
c.2492T= (p.Val831=)
c.*1955T= (n.*1955T=)
c.*1078T= (n.*1078T=)
c.1465T=
c.2369T= (p.Val790=)
c.2480T= (p.Val827=)
c.2534T= (p.Val845=)
c.53T= (p.Val18=)
c.2423T= (p.Val808=)
n.582+5977A=
c.2108T= (p.Val703=)
c.2105T= (p.Val702=)
n.2896T=
n.2731T=
n.601-2858A=
n.475+7865A=
n.600+5977A=
3g.193662944A>CCA437441662OPA1c.2643A>C (p.Val881=)
c.2478A>C (p.Val826=)
c.2589A>C (p.Val863=)
c.2532A>C (p.Val844=)
c.2417A>C
c.*703A>C (n.*703A>C)
c.2160A>C (p.Val720=)
c.*2559A>C (n.*2559A>C)
c.2065A>C
c.*962A>C (n.*962A>C)
c.2472A>C
c.2493A>C (p.Val831=)
c.*1956A>C (n.*1956A>C)
c.*1079A>C (n.*1079A>C)
c.1466A>C
c.2370A>C (p.Val790=)
c.2481A>C (p.Val827=)
c.2535A>C (p.Val845=)
c.54A>C (p.Val18=)
c.2424A>C (p.Val808=)
n.582+5976T>G
c.2109A>C (p.Val703=)
c.2106A>C (p.Val702=)
n.2897A>C
n.2732A>C
n.601-2859T>G
n.475+7864T>G
n.600+5976T>G
3g.193662944A>GCA437441666OPA1c.2643A>G (p.Val881=)
c.2478A>G (p.Val826=)
c.2589A>G (p.Val863=)
c.2532A>G (p.Val844=)
c.2417A>G
c.*703A>G (n.*703A>G)
c.2160A>G (p.Val720=)
c.*2559A>G (n.*2559A>G)
c.2065A>G
c.*962A>G (n.*962A>G)
c.2472A>G
c.2493A>G (p.Val831=)
c.*1956A>G (n.*1956A>G)
c.*1079A>G (n.*1079A>G)
c.1466A>G
c.2370A>G (p.Val790=)
c.2481A>G (p.Val827=)
c.2535A>G (p.Val845=)
c.54A>G (p.Val18=)
c.2424A>G (p.Val808=)
n.582+5976T>C
c.2109A>G (p.Val703=)
c.2106A>G (p.Val702=)
n.2897A>G
n.2732A>G
n.601-2859T>C
n.475+7864T>C
n.600+5976T>C
 gnomAD v4
3g.193662944A>TCA437441664OPA1c.2643A>T (p.Val881=)
c.2478A>T (p.Val826=)
c.2589A>T (p.Val863=)
c.2532A>T (p.Val844=)
c.2417A>T
c.*703A>T (n.*703A>T)
c.2160A>T (p.Val720=)
c.*2559A>T (n.*2559A>T)
c.2065A>T
c.*962A>T (n.*962A>T)
c.2472A>T
c.2493A>T (p.Val831=)
c.*1956A>T (n.*1956A>T)
c.*1079A>T (n.*1079A>T)
c.1466A>T
c.2370A>T (p.Val790=)
c.2481A>T (p.Val827=)
c.2535A>T (p.Val845=)
c.54A>T (p.Val18=)
c.2424A>T (p.Val808=)
n.582+5976T>A
c.2109A>T (p.Val703=)
c.2106A>T (p.Val702=)
n.2897A>T
n.2732A>T
n.601-2859T>A
n.475+7864T>A
n.600+5976T>A
3g.193662945G>ACA2759711OPA1c.2644G>A (p.Glu882Lys)
c.2479G>A (p.Glu827Lys)
c.2590G>A (p.Glu864Lys)
c.2533G>A (p.Glu845Lys)
c.2418G>A
c.*704G>A (n.*704G>A)
c.2161G>A (p.Glu721Lys)
c.*2560G>A (n.*2560G>A)
c.2066G>A
c.*963G>A (n.*963G>A)
c.2473G>A
c.2494G>A (p.Glu832Lys)
c.*1957G>A (n.*1957G>A)
c.*1080G>A (n.*1080G>A)
c.1467G>A
c.2371G>A (p.Glu791Lys)
c.2482G>A (p.Glu828Lys)
c.2536G>A (p.Glu846Lys)
c.55G>A (p.Glu19Lys)
c.2425G>A (p.Glu809Lys)
n.582+5975C>T
c.2110G>A (p.Glu704Lys)
c.2107G>A (p.Glu703Lys)
n.2898G>A
n.2733G>A
n.601-2860C>T
n.475+7863C>T
n.600+5975C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.193662945G>CCA355793277OPA1c.2644G>C (p.Glu882Gln)
c.2479G>C (p.Glu827Gln)
c.2590G>C (p.Glu864Gln)
c.2533G>C (p.Glu845Gln)
c.2418G>C
c.*704G>C (n.*704G>C)
c.2161G>C (p.Glu721Gln)
c.*2560G>C (n.*2560G>C)
c.2066G>C
c.*963G>C (n.*963G>C)
c.2473G>C
c.2494G>C (p.Glu832Gln)
c.*1957G>C (n.*1957G>C)
c.*1080G>C (n.*1080G>C)
c.1467G>C
c.2371G>C (p.Glu791Gln)
c.2482G>C (p.Glu828Gln)
c.2536G>C (p.Glu846Gln)
c.55G>C (p.Glu19Gln)
c.2425G>C (p.Glu809Gln)
n.582+5975C>G
c.2110G>C (p.Glu704Gln)
c.2107G>C (p.Glu703Gln)
n.2898G>C
n.2733G>C
n.601-2860C>G
n.475+7863C>G
n.600+5975C>G
 dbSNP
3g.193662945G=CA1430270715OPA1c.2644G= (p.Glu882=)
c.2479G= (p.Glu827=)
c.2590G= (p.Glu864=)
c.2533G= (p.Glu845=)
c.2418G=
c.*704G= (n.*704G=)
c.2161G= (p.Glu721=)
c.*2560G= (n.*2560G=)
c.2066G=
c.*963G= (n.*963G=)
c.2473G=
c.2494G= (p.Glu832=)
c.*1957G= (n.*1957G=)
c.*1080G= (n.*1080G=)
c.1467G=
c.2371G= (p.Glu791=)
c.2482G= (p.Glu828=)
c.2536G= (p.Glu846=)
c.55G= (p.Glu19=)
c.2425G= (p.Glu809=)
n.582+5975C=
c.2110G= (p.Glu704=)
c.2107G= (p.Glu703=)
n.2898G=
n.2733G=
n.601-2860C=
n.475+7863C=
n.600+5975C=
3g.193662945G>TCA355793278OPA1c.2644G>T (p.Glu882Ter)
c.2479G>T (p.Glu827Ter)
c.2590G>T (p.Glu864Ter)
c.2533G>T (p.Glu845Ter)
c.2418G>T
c.*704G>T (n.*704G>T)
c.2161G>T (p.Glu721Ter)
c.*2560G>T (n.*2560G>T)
c.2066G>T
c.*963G>T (n.*963G>T)
c.2473G>T
c.2494G>T (p.Glu832Ter)
c.*1957G>T (n.*1957G>T)
c.*1080G>T (n.*1080G>T)
c.1467G>T
c.2371G>T (p.Glu791Ter)
c.2482G>T (p.Glu828Ter)
c.2536G>T (p.Glu846Ter)
c.55G>T (p.Glu19Ter)
c.2425G>T (p.Glu809Ter)
n.582+5975C>A
c.2110G>T (p.Glu704Ter)
c.2107G>T (p.Glu703Ter)
n.2898G>T
n.2733G>T
n.601-2860C>A
n.475+7863C>A
n.600+5975C>A
3g.193662946A>CCA355793280OPA1c.2645A>C (p.Glu882Ala)
c.2480A>C (p.Glu827Ala)
c.2591A>C (p.Glu864Ala)
c.2534A>C (p.Glu845Ala)
c.2419A>C
c.*705A>C (n.*705A>C)
c.2162A>C (p.Glu721Ala)
c.*2561A>C (n.*2561A>C)
c.2067A>C
c.*964A>C (n.*964A>C)
c.2474A>C
c.2495A>C (p.Glu832Ala)
c.*1958A>C (n.*1958A>C)
c.*1081A>C (n.*1081A>C)
c.1468A>C
c.2372A>C (p.Glu791Ala)
c.2483A>C (p.Glu828Ala)
c.2537A>C (p.Glu846Ala)
c.56A>C (p.Glu19Ala)
c.2426A>C (p.Glu809Ala)
n.582+5974T>G
c.2111A>C (p.Glu704Ala)
c.2108A>C (p.Glu703Ala)
n.2899A>C
n.2734A>C
n.601-2861T>G
n.475+7862T>G
n.600+5974T>G
3g.193662946A>GCA355793282OPA1c.2645A>G (p.Glu882Gly)
c.2480A>G (p.Glu827Gly)
c.2591A>G (p.Glu864Gly)
c.2534A>G (p.Glu845Gly)
c.2419A>G
c.*705A>G (n.*705A>G)
c.2162A>G (p.Glu721Gly)
c.*2561A>G (n.*2561A>G)
c.2067A>G
c.*964A>G (n.*964A>G)
c.2474A>G
c.2495A>G (p.Glu832Gly)
c.*1958A>G (n.*1958A>G)
c.*1081A>G (n.*1081A>G)
c.1468A>G
c.2372A>G (p.Glu791Gly)
c.2483A>G (p.Glu828Gly)
c.2537A>G (p.Glu846Gly)
c.56A>G (p.Glu19Gly)
c.2426A>G (p.Glu809Gly)
n.582+5974T>C
c.2111A>G (p.Glu704Gly)
c.2108A>G (p.Glu703Gly)
n.2899A>G
n.2734A>G
n.601-2861T>C
n.475+7862T>C
n.600+5974T>C
3g.193662946A>TCA355793284OPA1c.2645A>T (p.Glu882Val)
c.2480A>T (p.Glu827Val)
c.2591A>T (p.Glu864Val)
c.2534A>T (p.Glu845Val)
c.2419A>T
c.*705A>T (n.*705A>T)
c.2162A>T (p.Glu721Val)
c.*2561A>T (n.*2561A>T)
c.2067A>T
c.*964A>T (n.*964A>T)
c.2474A>T
c.2495A>T (p.Glu832Val)
c.*1958A>T (n.*1958A>T)
c.*1081A>T (n.*1081A>T)
c.1468A>T
c.2372A>T (p.Glu791Val)
c.2483A>T (p.Glu828Val)
c.2537A>T (p.Glu846Val)
c.56A>T (p.Glu19Val)
c.2426A>T (p.Glu809Val)
n.582+5974T>A
c.2111A>T (p.Glu704Val)
c.2108A>T (p.Glu703Val)
n.2899A>T
n.2734A>T
n.601-2861T>A
n.475+7862T>A
n.600+5974T>A
3g.193662947A>CCA355793286OPA1c.2646A>C (p.Glu882Asp)
c.2481A>C (p.Glu827Asp)
c.2592A>C (p.Glu864Asp)
c.2535A>C (p.Glu845Asp)
c.2420A>C
c.*706A>C (n.*706A>C)
c.2163A>C (p.Glu721Asp)
c.*2562A>C (n.*2562A>C)
c.2068A>C
c.*965A>C (n.*965A>C)
c.2475A>C
c.2496A>C (p.Glu832Asp)
c.*1959A>C (n.*1959A>C)
c.*1082A>C (n.*1082A>C)
c.1469A>C
c.2373A>C (p.Glu791Asp)
c.2484A>C (p.Glu828Asp)
c.2538A>C (p.Glu846Asp)
c.57A>C (p.Glu19Asp)
c.2427A>C (p.Glu809Asp)
n.582+5973T>G
c.2112A>C (p.Glu704Asp)
c.2109A>C (p.Glu703Asp)
n.2900A>C
n.2735A>C
n.601-2862T>G
n.475+7861T>G
n.600+5973T>G
3g.193662947A>GCA437441667OPA1c.2646A>G (p.Glu882=)
c.2481A>G (p.Glu827=)
c.2592A>G (p.Glu864=)
c.2535A>G (p.Glu845=)
c.2420A>G
c.*706A>G (n.*706A>G)
c.2163A>G (p.Glu721=)
c.*2562A>G (n.*2562A>G)
c.2068A>G
c.*965A>G (n.*965A>G)
c.2475A>G
c.2496A>G (p.Glu832=)
c.*1959A>G (n.*1959A>G)
c.*1082A>G (n.*1082A>G)
c.1469A>G
c.2373A>G (p.Glu791=)
c.2484A>G (p.Glu828=)
c.2538A>G (p.Glu846=)
c.57A>G (p.Glu19=)
c.2427A>G (p.Glu809=)
n.582+5973T>C
c.2112A>G (p.Glu704=)
c.2109A>G (p.Glu703=)
n.2900A>G
n.2735A>G
n.601-2862T>C
n.475+7861T>C
n.600+5973T>C
3g.193662947A>TCA355793288OPA1c.2646A>T (p.Glu882Asp)
c.2481A>T (p.Glu827Asp)
c.2592A>T (p.Glu864Asp)
c.2535A>T (p.Glu845Asp)
c.2420A>T
c.*706A>T (n.*706A>T)
c.2163A>T (p.Glu721Asp)
c.*2562A>T (n.*2562A>T)
c.2068A>T
c.*965A>T (n.*965A>T)
c.2475A>T
c.2496A>T (p.Glu832Asp)
c.*1959A>T (n.*1959A>T)
c.*1082A>T (n.*1082A>T)
c.1469A>T
c.2373A>T (p.Glu791Asp)
c.2484A>T (p.Glu828Asp)
c.2538A>T (p.Glu846Asp)
c.57A>T (p.Glu19Asp)
c.2427A>T (p.Glu809Asp)
n.582+5973T>A
c.2112A>T (p.Glu704Asp)
c.2109A>T (p.Glu703Asp)
n.2900A>T
n.2735A>T
n.601-2862T>A
n.475+7861T>A
n.600+5973T>A
3g.193662948delCA2586973361OPA1c.2647del (p.Val883Ter)
c.2482del (p.Val828Ter)
c.2593del (p.Val865Ter)
c.2536del (p.Val846Ter)
c.2421del
c.*707del (n.*707del)
c.2164del (p.Val722Ter)
c.*2563del (n.*2563del)
c.2069del
c.*966del (n.*966del)
c.2476del
c.2497del (p.Val833Ter)
c.*1960del (n.*1960del)
c.*1083del (n.*1083del)
c.1470del
c.2374del (p.Val792Ter)
c.2485del (p.Val829Ter)
c.2539del (p.Val847Ter)
c.58del (p.Val20Ter)
c.2428del (p.Val810Ter)
n.582+5972del
c.2113del (p.Val705Ter)
c.2110del (p.Val704Ter)
n.2901del
n.2736del
n.601-2863del
n.475+7860del
n.600+5972del
3g.193662948G>ACA2759712OPA1c.2647G>A (p.Val883Ile)
c.2482G>A (p.Val828Ile)
c.2593G>A (p.Val865Ile)
c.2536G>A (p.Val846Ile)
c.2421G>A
c.*707G>A (n.*707G>A)
c.2164G>A (p.Val722Ile)
c.*2563G>A (n.*2563G>A)
c.2069G>A
c.*966G>A (n.*966G>A)
c.2476G>A
c.2497G>A (p.Val833Ile)
c.*1960G>A (n.*1960G>A)
c.*1083G>A (n.*1083G>A)
c.1470G>A
c.2374G>A (p.Val792Ile)
c.2485G>A (p.Val829Ile)
c.2539G>A (p.Val847Ile)
c.58G>A (p.Val20Ile)
c.2428G>A (p.Val810Ile)
n.582+5972C>T
c.2113G>A (p.Val705Ile)
c.2110G>A (p.Val704Ile)
n.2901G>A
n.2736G>A
n.601-2863C>T
n.475+7860C>T
n.600+5972C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.193662948G>CCA355793292OPA1c.2647G>C (p.Val883Leu)
c.2482G>C (p.Val828Leu)
c.2593G>C (p.Val865Leu)
c.2536G>C (p.Val846Leu)
c.2421G>C
c.*707G>C (n.*707G>C)
c.2164G>C (p.Val722Leu)
c.*2563G>C (n.*2563G>C)
c.2069G>C
c.*966G>C (n.*966G>C)
c.2476G>C
c.2497G>C (p.Val833Leu)
c.*1960G>C (n.*1960G>C)
c.*1083G>C (n.*1083G>C)
c.1470G>C
c.2374G>C (p.Val792Leu)
c.2485G>C (p.Val829Leu)
c.2539G>C (p.Val847Leu)
c.58G>C (p.Val20Leu)
c.2428G>C (p.Val810Leu)
n.582+5972C>G
c.2113G>C (p.Val705Leu)
c.2110G>C (p.Val704Leu)
n.2901G>C
n.2736G>C
n.601-2863C>G
n.475+7860C>G
n.600+5972C>G
3g.193662948G=CA1430270717OPA1c.2647G= (p.Val883=)
c.2482G= (p.Val828=)
c.2593G= (p.Val865=)
c.2536G= (p.Val846=)
c.2421G=
c.*707G= (n.*707G=)
c.2164G= (p.Val722=)
c.*2563G= (n.*2563G=)
c.2069G=
c.*966G= (n.*966G=)
c.2476G=
c.2497G= (p.Val833=)
c.*1960G= (n.*1960G=)
c.*1083G= (n.*1083G=)
c.1470G=
c.2374G= (p.Val792=)
c.2485G= (p.Val829=)
c.2539G= (p.Val847=)
c.58G= (p.Val20=)
c.2428G= (p.Val810=)
n.582+5972C=
c.2113G= (p.Val705=)
c.2110G= (p.Val704=)
n.2901G=
n.2736G=
n.601-2863C=
n.475+7860C=
n.600+5972C=
3g.193662948G>TCA355793294OPA1c.2647G>T (p.Val883Leu)
c.2482G>T (p.Val828Leu)
c.2593G>T (p.Val865Leu)
c.2536G>T (p.Val846Leu)
c.2421G>T
c.*707G>T (n.*707G>T)
c.2164G>T (p.Val722Leu)
c.*2563G>T (n.*2563G>T)
c.2069G>T
c.*966G>T (n.*966G>T)
c.2476G>T
c.2497G>T (p.Val833Leu)
c.*1960G>T (n.*1960G>T)
c.*1083G>T (n.*1083G>T)
c.1470G>T
c.2374G>T (p.Val792Leu)
c.2485G>T (p.Val829Leu)
c.2539G>T (p.Val847Leu)
c.58G>T (p.Val20Leu)
c.2428G>T (p.Val810Leu)
n.582+5972C>A
c.2113G>T (p.Val705Leu)
c.2110G>T (p.Val704Leu)
n.2901G>T
n.2736G>T
n.601-2863C>A
n.475+7860C>A
n.600+5972C>A
3g.193662949T>ACA355793298OPA1c.2648T>A (p.Val883Glu)
c.2483T>A (p.Val828Glu)
c.2594T>A (p.Val865Glu)
c.2537T>A (p.Val846Glu)
c.2422T>A
c.*708T>A (n.*708T>A)
c.2165T>A (p.Val722Glu)
c.*2564T>A (n.*2564T>A)
c.2070T>A
c.*967T>A (n.*967T>A)
c.2477T>A
c.2498T>A (p.Val833Glu)
c.*1961T>A (n.*1961T>A)
c.*1084T>A (n.*1084T>A)
c.1471T>A
c.2375T>A (p.Val792Glu)
c.2486T>A (p.Val829Glu)
c.2540T>A (p.Val847Glu)
c.59T>A (p.Val20Glu)
c.2429T>A (p.Val810Glu)
n.582+5971A>T
c.2114T>A (p.Val705Glu)
c.2111T>A (p.Val704Glu)
n.2902T>A
n.2737T>A
n.601-2864A>T
n.475+7859A>T
n.600+5971A>T
3g.193662949T>CCA355793300OPA1c.2648T>C (p.Val883Ala)
c.2483T>C (p.Val828Ala)
c.2594T>C (p.Val865Ala)
c.2537T>C (p.Val846Ala)
c.2422T>C
c.*708T>C (n.*708T>C)
c.2165T>C (p.Val722Ala)
c.*2564T>C (n.*2564T>C)
c.2070T>C
c.*967T>C (n.*967T>C)
c.2477T>C
c.2498T>C (p.Val833Ala)
c.*1961T>C (n.*1961T>C)
c.*1084T>C (n.*1084T>C)
c.1471T>C
c.2375T>C (p.Val792Ala)
c.2486T>C (p.Val829Ala)
c.2540T>C (p.Val847Ala)
c.59T>C (p.Val20Ala)
c.2429T>C (p.Val810Ala)
n.582+5971A>G
c.2114T>C (p.Val705Ala)
c.2111T>C (p.Val704Ala)
n.2902T>C
n.2737T>C
n.601-2864A>G
n.475+7859A>G
n.600+5971A>G
 ClinVar
3g.193662949T>GCA355793296OPA1c.2648T>G (p.Val883Gly)
c.2483T>G (p.Val828Gly)
c.2594T>G (p.Val865Gly)
c.2537T>G (p.Val846Gly)
c.2422T>G
c.*708T>G (n.*708T>G)
c.2165T>G (p.Val722Gly)
c.*2564T>G (n.*2564T>G)
c.2070T>G
c.*967T>G (n.*967T>G)
c.2477T>G
c.2498T>G (p.Val833Gly)
c.*1961T>G (n.*1961T>G)
c.*1084T>G (n.*1084T>G)
c.1471T>G
c.2375T>G (p.Val792Gly)
c.2486T>G (p.Val829Gly)
c.2540T>G (p.Val847Gly)
c.59T>G (p.Val20Gly)
c.2429T>G (p.Val810Gly)
n.582+5971A>C
c.2114T>G (p.Val705Gly)
c.2111T>G (p.Val704Gly)
n.2902T>G
n.2737T>G
n.601-2864A>C
n.475+7859A>C
n.600+5971A>C
3g.193662950A>CCA437441669OPA1c.2649A>C (p.Val883=)
c.2484A>C (p.Val828=)
c.2595A>C (p.Val865=)
c.2538A>C (p.Val846=)
c.2423A>C
c.*709A>C (n.*709A>C)
c.2166A>C (p.Val722=)
c.*2565A>C (n.*2565A>C)
c.2071A>C
c.*968A>C (n.*968A>C)
c.2478A>C
c.2499A>C (p.Val833=)
c.*1962A>C (n.*1962A>C)
c.*1085A>C (n.*1085A>C)
c.1472A>C
c.2376A>C (p.Val792=)
c.2487A>C (p.Val829=)
c.2541A>C (p.Val847=)
c.60A>C (p.Val20=)
c.2430A>C (p.Val810=)
n.582+5970T>G
c.2115A>C (p.Val705=)
c.2112A>C (p.Val704=)
n.2903A>C
n.2738A>C
n.601-2865T>G
n.475+7858T>G
n.600+5970T>G
3g.193662950A>GCA437441673OPA1c.2649A>G (p.Val883=)
c.2484A>G (p.Val828=)
c.2595A>G (p.Val865=)
c.2538A>G (p.Val846=)
c.2423A>G
c.*709A>G (n.*709A>G)
c.2166A>G (p.Val722=)
c.*2565A>G (n.*2565A>G)
c.2071A>G
c.*968A>G (n.*968A>G)
c.2478A>G
c.2499A>G (p.Val833=)
c.*1962A>G (n.*1962A>G)
c.*1085A>G (n.*1085A>G)
c.1472A>G
c.2376A>G (p.Val792=)
c.2487A>G (p.Val829=)
c.2541A>G (p.Val847=)
c.60A>G (p.Val20=)
c.2430A>G (p.Val810=)
n.582+5970T>C
c.2115A>G (p.Val705=)
c.2112A>G (p.Val704=)
n.2903A>G
n.2738A>G
n.601-2865T>C
n.475+7858T>C
n.600+5970T>C
 gnomAD v4
3g.193662950A>TCA437441671OPA1c.2649A>T (p.Val883=)
c.2484A>T (p.Val828=)
c.2595A>T (p.Val865=)
c.2538A>T (p.Val846=)
c.2423A>T
c.*709A>T (n.*709A>T)
c.2166A>T (p.Val722=)
c.*2565A>T (n.*2565A>T)
c.2071A>T
c.*968A>T (n.*968A>T)
c.2478A>T
c.2499A>T (p.Val833=)
c.*1962A>T (n.*1962A>T)
c.*1085A>T (n.*1085A>T)
c.1472A>T
c.2376A>T (p.Val792=)
c.2487A>T (p.Val829=)
c.2541A>T (p.Val847=)
c.60A>T (p.Val20=)
c.2430A>T (p.Val810=)
n.582+5970T>A
c.2115A>T (p.Val705=)
c.2112A>T (p.Val704=)
n.2903A>T
n.2738A>T
n.601-2865T>A
n.475+7858T>A
n.600+5970T>A
3g.193662951G>ACA355793307OPA1c.2650G>A (p.Asp884Asn)
c.2485G>A (p.Asp829Asn)
c.2596G>A (p.Asp866Asn)
c.2539G>A (p.Asp847Asn)
c.2424G>A
c.*710G>A (n.*710G>A)
c.2167G>A (p.Asp723Asn)
c.*2566G>A (n.*2566G>A)
c.2072G>A
c.*969G>A (n.*969G>A)
c.2479G>A
c.2500G>A (p.Asp834Asn)
c.*1963G>A (n.*1963G>A)
c.*1086G>A (n.*1086G>A)
c.1473G>A
c.2377G>A (p.Asp793Asn)
c.2488G>A (p.Asp830Asn)
c.2542G>A (p.Asp848Asn)
c.61G>A (p.Asp21Asn)
c.2431G>A (p.Asp811Asn)
n.582+5969C>T
c.2116G>A (p.Asp706Asn)
c.2113G>A (p.Asp705Asn)
n.2904G>A
n.2739G>A
n.601-2866C>T
n.475+7857C>T
n.600+5969C>T
3g.193662951G>CCA355793304OPA1c.2650G>C (p.Asp884His)
c.2485G>C (p.Asp829His)
c.2596G>C (p.Asp866His)
c.2539G>C (p.Asp847His)
c.2424G>C
c.*710G>C (n.*710G>C)
c.2167G>C (p.Asp723His)
c.*2566G>C (n.*2566G>C)
c.2072G>C
c.*969G>C (n.*969G>C)
c.2479G>C
c.2500G>C (p.Asp834His)
c.*1963G>C (n.*1963G>C)
c.*1086G>C (n.*1086G>C)
c.1473G>C
c.2377G>C (p.Asp793His)
c.2488G>C (p.Asp830His)
c.2542G>C (p.Asp848His)
c.61G>C (p.Asp21His)
c.2431G>C (p.Asp811His)
n.582+5969C>G
c.2116G>C (p.Asp706His)
c.2113G>C (p.Asp705His)
n.2904G>C
n.2739G>C
n.601-2866C>G
n.475+7857C>G
n.600+5969C>G
3g.193662951G>TCA355793305OPA1c.2650G>T (p.Asp884Tyr)
c.2485G>T (p.Asp829Tyr)
c.2596G>T (p.Asp866Tyr)
c.2539G>T (p.Asp847Tyr)
c.2424G>T
c.*710G>T (n.*710G>T)
c.2167G>T (p.Asp723Tyr)
c.*2566G>T (n.*2566G>T)
c.2072G>T
c.*969G>T (n.*969G>T)
c.2479G>T
c.2500G>T (p.Asp834Tyr)
c.*1963G>T (n.*1963G>T)
c.*1086G>T (n.*1086G>T)
c.1473G>T
c.2377G>T (p.Asp793Tyr)
c.2488G>T (p.Asp830Tyr)
c.2542G>T (p.Asp848Tyr)
c.61G>T (p.Asp21Tyr)
c.2431G>T (p.Asp811Tyr)
n.582+5969C>A
c.2116G>T (p.Asp706Tyr)
c.2113G>T (p.Asp705Tyr)
n.2904G>T
n.2739G>T
n.601-2866C>A
n.475+7857C>A
n.600+5969C>A
3g.193662952A>CCA355793311OPA1c.2651A>C (p.Asp884Ala)
c.2486A>C (p.Asp829Ala)
c.2597A>C (p.Asp866Ala)
c.2540A>C (p.Asp847Ala)
c.2425A>C
c.*711A>C (n.*711A>C)
c.2168A>C (p.Asp723Ala)
c.*2567A>C (n.*2567A>C)
c.2073A>C
c.*970A>C (n.*970A>C)
c.2480A>C
c.2501A>C (p.Asp834Ala)
c.*1964A>C (n.*1964A>C)
c.*1087A>C (n.*1087A>C)
c.1474A>C
c.2378A>C (p.Asp793Ala)
c.2489A>C (p.Asp830Ala)
c.2543A>C (p.Asp848Ala)
c.62A>C (p.Asp21Ala)
c.2432A>C (p.Asp811Ala)
n.582+5968T>G
c.2117A>C (p.Asp706Ala)
c.2114A>C (p.Asp705Ala)
n.2905A>C
n.2740A>C
n.601-2867T>G
n.475+7856T>G
n.600+5968T>G
3g.193662952A>GCA355793313OPA1c.2651A>G (p.Asp884Gly)
c.2486A>G (p.Asp829Gly)
c.2597A>G (p.Asp866Gly)
c.2540A>G (p.Asp847Gly)
c.2425A>G
c.*711A>G (n.*711A>G)
c.2168A>G (p.Asp723Gly)
c.*2567A>G (n.*2567A>G)
c.2073A>G
c.*970A>G (n.*970A>G)
c.2480A>G
c.2501A>G (p.Asp834Gly)
c.*1964A>G (n.*1964A>G)
c.*1087A>G (n.*1087A>G)
c.1474A>G
c.2378A>G (p.Asp793Gly)
c.2489A>G (p.Asp830Gly)
c.2543A>G (p.Asp848Gly)
c.62A>G (p.Asp21Gly)
c.2432A>G (p.Asp811Gly)
n.582+5968T>C
c.2117A>G (p.Asp706Gly)
c.2114A>G (p.Asp705Gly)
n.2905A>G
n.2740A>G
n.601-2867T>C
n.475+7856T>C
n.600+5968T>C
3g.193662952A>TCA355793315OPA1c.2651A>T (p.Asp884Val)
c.2486A>T (p.Asp829Val)
c.2597A>T (p.Asp866Val)
c.2540A>T (p.Asp847Val)
c.2425A>T
c.*711A>T (n.*711A>T)
c.2168A>T (p.Asp723Val)
c.*2567A>T (n.*2567A>T)
c.2073A>T
c.*970A>T (n.*970A>T)
c.2480A>T
c.2501A>T (p.Asp834Val)
c.*1964A>T (n.*1964A>T)
c.*1087A>T (n.*1087A>T)
c.1474A>T
c.2378A>T (p.Asp793Val)
c.2489A>T (p.Asp830Val)
c.2543A>T (p.Asp848Val)
c.62A>T (p.Asp21Val)
c.2432A>T (p.Asp811Val)
n.582+5968T>A
c.2117A>T (p.Asp706Val)
c.2114A>T (p.Asp705Val)
n.2905A>T
n.2740A>T
n.601-2867T>A
n.475+7856T>A
n.600+5968T>A
3g.193662953T>ACA355793318OPA1c.2652T>A (p.Asp884Glu)
c.2487T>A (p.Asp829Glu)
c.2598T>A (p.Asp866Glu)
c.2541T>A (p.Asp847Glu)
c.2426T>A
c.*712T>A (n.*712T>A)
c.2169T>A (p.Asp723Glu)
c.*2568T>A (n.*2568T>A)
c.2074T>A
c.*971T>A (n.*971T>A)
c.2481T>A
c.2502T>A (p.Asp834Glu)
c.*1965T>A (n.*1965T>A)
c.*1088T>A (n.*1088T>A)
c.1475T>A
c.2379T>A (p.Asp793Glu)
c.2490T>A (p.Asp830Glu)
c.2544T>A (p.Asp848Glu)
c.63T>A (p.Asp21Glu)
c.2433T>A (p.Asp811Glu)
n.582+5967A>T
c.2118T>A (p.Asp706Glu)
c.2115T>A (p.Asp705Glu)
n.2906T>A
n.2741T>A
n.601-2868A>T
n.475+7855A>T
n.600+5967A>T
 dbSNP
3g.193662953T>CCA437441675OPA1c.2652T>C (p.Asp884=)
c.2487T>C (p.Asp829=)
c.2598T>C (p.Asp866=)
c.2541T>C (p.Asp847=)
c.2426T>C
c.*712T>C (n.*712T>C)
c.2169T>C (p.Asp723=)
c.*2568T>C (n.*2568T>C)
c.2074T>C
c.*971T>C (n.*971T>C)
c.2481T>C
c.2502T>C (p.Asp834=)
c.*1965T>C (n.*1965T>C)
c.*1088T>C (n.*1088T>C)
c.1475T>C
c.2379T>C (p.Asp793=)
c.2490T>C (p.Asp830=)
c.2544T>C (p.Asp848=)
c.63T>C (p.Asp21=)
c.2433T>C (p.Asp811=)
n.582+5967A>G
c.2118T>C (p.Asp706=)
c.2115T>C (p.Asp705=)
n.2906T>C
n.2741T>C
n.601-2868A>G
n.475+7855A>G
n.600+5967A>G
 gnomAD v4
3g.193662953T>GCA355793320OPA1c.2652T>G (p.Asp884Glu)
c.2487T>G (p.Asp829Glu)
c.2598T>G (p.Asp866Glu)
c.2541T>G (p.Asp847Glu)
c.2426T>G
c.*712T>G (n.*712T>G)
c.2169T>G (p.Asp723Glu)
c.*2568T>G (n.*2568T>G)
c.2074T>G
c.*971T>G (n.*971T>G)
c.2481T>G
c.2502T>G (p.Asp834Glu)
c.*1965T>G (n.*1965T>G)
c.*1088T>G (n.*1088T>G)
c.1475T>G
c.2379T>G (p.Asp793Glu)
c.2490T>G (p.Asp830Glu)
c.2544T>G (p.Asp848Glu)
c.63T>G (p.Asp21Glu)
c.2433T>G (p.Asp811Glu)
n.582+5967A>C
c.2118T>G (p.Asp706Glu)
c.2115T>G (p.Asp705Glu)
n.2906T>G
n.2741T>G
n.601-2868A>C
n.475+7855A>C
n.600+5967A>C
3g.193662953T=CA1430270719OPA1c.2652T= (p.Asp884=)
c.2487T= (p.Asp829=)
c.2598T= (p.Asp866=)
c.2541T= (p.Asp847=)
c.2426T=
c.*712T= (n.*712T=)
c.2169T= (p.Asp723=)
c.*2568T= (n.*2568T=)
c.2074T=
c.*971T= (n.*971T=)
c.2481T=
c.2502T= (p.Asp834=)
c.*1965T= (n.*1965T=)
c.*1088T= (n.*1088T=)
c.1475T=
c.2379T= (p.Asp793=)
c.2490T= (p.Asp830=)
c.2544T= (p.Asp848=)
c.63T= (p.Asp21=)
c.2433T= (p.Asp811=)
n.582+5967A=
c.2118T= (p.Asp706=)
c.2115T= (p.Asp705=)
n.2906T=
n.2741T=
n.601-2868A=
n.475+7855A=
n.600+5967A=
3g.193662954C>ACA355793323OPA1c.2653C>A (p.Pro885Thr)
c.2488C>A (p.Pro830Thr)
c.2599C>A (p.Pro867Thr)
c.2542C>A (p.Pro848Thr)
c.2427C>A
c.*713C>A (n.*713C>A)
c.2170C>A (p.Pro724Thr)
c.*2569C>A (n.*2569C>A)
c.2075C>A
c.*972C>A (n.*972C>A)
c.2482C>A
c.2503C>A (p.Pro835Thr)
c.*1966C>A (n.*1966C>A)
c.*1089C>A (n.*1089C>A)
c.1476C>A
c.2380C>A (p.Pro794Thr)
c.2491C>A (p.Pro831Thr)
c.2545C>A (p.Pro849Thr)
c.64C>A (p.Pro22Thr)
c.2434C>A (p.Pro812Thr)
n.582+5966G>T
c.2119C>A (p.Pro707Thr)
c.2116C>A (p.Pro706Thr)
n.2907C>A
n.2742C>A
n.601-2869G>T
n.475+7854G>T
n.600+5966G>T
3g.193662954C>GCA355793325OPA1c.2653C>G (p.Pro885Ala)
c.2488C>G (p.Pro830Ala)
c.2599C>G (p.Pro867Ala)
c.2542C>G (p.Pro848Ala)
c.2427C>G
c.*713C>G (n.*713C>G)
c.2170C>G (p.Pro724Ala)
c.*2569C>G (n.*2569C>G)
c.2075C>G
c.*972C>G (n.*972C>G)
c.2482C>G
c.2503C>G (p.Pro835Ala)
c.*1966C>G (n.*1966C>G)
c.*1089C>G (n.*1089C>G)
c.1476C>G
c.2380C>G (p.Pro794Ala)
c.2491C>G (p.Pro831Ala)
c.2545C>G (p.Pro849Ala)
c.64C>G (p.Pro22Ala)
c.2434C>G (p.Pro812Ala)
n.582+5966G>C
c.2119C>G (p.Pro707Ala)
c.2116C>G (p.Pro706Ala)
n.2907C>G
n.2742C>G
n.601-2869G>C
n.475+7854G>C
n.600+5966G>C
3g.193662954C>TCA355793328OPA1c.2653C>T (p.Pro885Ser)
c.2488C>T (p.Pro830Ser)
c.2599C>T (p.Pro867Ser)
c.2542C>T (p.Pro848Ser)
c.2427C>T
c.*713C>T (n.*713C>T)
c.2170C>T (p.Pro724Ser)
c.*2569C>T (n.*2569C>T)
c.2075C>T
c.*972C>T (n.*972C>T)
c.2482C>T
c.2503C>T (p.Pro835Ser)
c.*1966C>T (n.*1966C>T)
c.*1089C>T (n.*1089C>T)
c.1476C>T
c.2380C>T (p.Pro794Ser)
c.2491C>T (p.Pro831Ser)
c.2545C>T (p.Pro849Ser)
c.64C>T (p.Pro22Ser)
c.2434C>T (p.Pro812Ser)
n.582+5966G>A
c.2119C>T (p.Pro707Ser)
c.2116C>T (p.Pro706Ser)
n.2907C>T
n.2742C>T
n.601-2869G>A
n.475+7854G>A
n.600+5966G>A
3g.193662955C>ACA355793331OPA1c.2654C>A (p.Pro885Gln)
c.2489C>A (p.Pro830Gln)
c.2600C>A (p.Pro867Gln)
c.2543C>A (p.Pro848Gln)
c.2428C>A
c.*714C>A (n.*714C>A)
c.2171C>A (p.Pro724Gln)
c.*2570C>A (n.*2570C>A)
c.2076C>A
c.*973C>A (n.*973C>A)
c.2483C>A
c.2504C>A (p.Pro835Gln)
c.*1967C>A (n.*1967C>A)
c.*1090C>A (n.*1090C>A)
c.1477C>A
c.2381C>A (p.Pro794Gln)
c.2492C>A (p.Pro831Gln)
c.2546C>A (p.Pro849Gln)
c.65C>A (p.Pro22Gln)
c.2435C>A (p.Pro812Gln)
n.582+5965G>T
c.2120C>A (p.Pro707Gln)
c.2117C>A (p.Pro706Gln)
n.2908C>A
n.2743C>A
n.601-2870G>T
n.475+7853G>T
n.600+5965G>T
3g.193662955C>GCA355793333OPA1c.2654C>G (p.Pro885Arg)
c.2489C>G (p.Pro830Arg)
c.2600C>G (p.Pro867Arg)
c.2543C>G (p.Pro848Arg)
c.2428C>G
c.*714C>G (n.*714C>G)
c.2171C>G (p.Pro724Arg)
c.*2570C>G (n.*2570C>G)
c.2076C>G
c.*973C>G (n.*973C>G)
c.2483C>G
c.2504C>G (p.Pro835Arg)
c.*1967C>G (n.*1967C>G)
c.*1090C>G (n.*1090C>G)
c.1477C>G
c.2381C>G (p.Pro794Arg)
c.2492C>G (p.Pro831Arg)
c.2546C>G (p.Pro849Arg)
c.65C>G (p.Pro22Arg)
c.2435C>G (p.Pro812Arg)
n.582+5965G>C
c.2120C>G (p.Pro707Arg)
c.2117C>G (p.Pro706Arg)
n.2908C>G
n.2743C>G
n.601-2870G>C
n.475+7853G>C
n.600+5965G>C
3g.193662955C>TCA355793335OPA1c.2654C>T (p.Pro885Leu)
c.2489C>T (p.Pro830Leu)
c.2600C>T (p.Pro867Leu)
c.2543C>T (p.Pro848Leu)
c.2428C>T
c.*714C>T (n.*714C>T)
c.2171C>T (p.Pro724Leu)
c.*2570C>T (n.*2570C>T)
c.2076C>T
c.*973C>T (n.*973C>T)
c.2483C>T
c.2504C>T (p.Pro835Leu)
c.*1967C>T (n.*1967C>T)
c.*1090C>T (n.*1090C>T)
c.1477C>T
c.2381C>T (p.Pro794Leu)
c.2492C>T (p.Pro831Leu)
c.2546C>T (p.Pro849Leu)
c.65C>T (p.Pro22Leu)
c.2435C>T (p.Pro812Leu)
n.582+5965G>A
c.2120C>T (p.Pro707Leu)
c.2117C>T (p.Pro706Leu)
n.2908C>T
n.2743C>T
n.601-2870G>A
n.475+7853G>A
n.600+5965G>A
3g.193662956A=CA1430270720OPA1c.2655A= (p.Pro885=)
c.2490A= (p.Pro830=)
c.2601A= (p.Pro867=)
c.2544A= (p.Pro848=)
c.2429A=
c.*715A= (n.*715A=)
c.2172A= (p.Pro724=)
c.*2571A= (n.*2571A=)
c.2077A=
c.*974A= (n.*974A=)
c.2484A=
c.2505A= (p.Pro835=)
c.*1968A= (n.*1968A=)
c.*1091A= (n.*1091A=)
c.1478A=
c.2382A= (p.Pro794=)
c.2493A= (p.Pro831=)
c.2547A= (p.Pro849=)
c.66A= (p.Pro22=)
c.2436A= (p.Pro812=)
n.582+5964T=
c.2121A= (p.Pro707=)
c.2118A= (p.Pro706=)
n.2909A=
n.2744A=
n.601-2871T=
n.475+7852T=
n.600+5964T=
3g.193662956A>CCA437441676OPA1c.2655A>C (p.Pro885=)
c.2490A>C (p.Pro830=)
c.2601A>C (p.Pro867=)
c.2544A>C (p.Pro848=)
c.2429A>C
c.*715A>C (n.*715A>C)
c.2172A>C (p.Pro724=)
c.*2571A>C (n.*2571A>C)
c.2077A>C
c.*974A>C (n.*974A>C)
c.2484A>C
c.2505A>C (p.Pro835=)
c.*1968A>C (n.*1968A>C)
c.*1091A>C (n.*1091A>C)
c.1478A>C
c.2382A>C (p.Pro794=)
c.2493A>C (p.Pro831=)
c.2547A>C (p.Pro849=)
c.66A>C (p.Pro22=)
c.2436A>C (p.Pro812=)
n.582+5964T>G
c.2121A>C (p.Pro707=)
c.2118A>C (p.Pro706=)
n.2909A>C
n.2744A>C
n.601-2871T>G
n.475+7852T>G
n.600+5964T>G
 dbSNP gnomAD v2 gnomAD v4
3g.193662956A>GCA437441677OPA1c.2655A>G (p.Pro885=)
c.2490A>G (p.Pro830=)
c.2601A>G (p.Pro867=)
c.2544A>G (p.Pro848=)
c.2429A>G
c.*715A>G (n.*715A>G)
c.2172A>G (p.Pro724=)
c.*2571A>G (n.*2571A>G)
c.2077A>G
c.*974A>G (n.*974A>G)
c.2484A>G
c.2505A>G (p.Pro835=)
c.*1968A>G (n.*1968A>G)
c.*1091A>G (n.*1091A>G)
c.1478A>G
c.2382A>G (p.Pro794=)
c.2493A>G (p.Pro831=)
c.2547A>G (p.Pro849=)
c.66A>G (p.Pro22=)
c.2436A>G (p.Pro812=)
n.582+5964T>C
c.2121A>G (p.Pro707=)
c.2118A>G (p.Pro706=)
n.2909A>G
n.2744A>G
n.601-2871T>C
n.475+7852T>C
n.600+5964T>C
 gnomAD v4
3g.193662956A>TCA437441678OPA1c.2655A>T (p.Pro885=)
c.2490A>T (p.Pro830=)
c.2601A>T (p.Pro867=)
c.2544A>T (p.Pro848=)
c.2429A>T
c.*715A>T (n.*715A>T)
c.2172A>T (p.Pro724=)
c.*2571A>T (n.*2571A>T)
c.2077A>T
c.*974A>T (n.*974A>T)
c.2484A>T
c.2505A>T (p.Pro835=)
c.*1968A>T (n.*1968A>T)
c.*1091A>T (n.*1091A>T)
c.1478A>T
c.2382A>T (p.Pro794=)
c.2493A>T (p.Pro831=)
c.2547A>T (p.Pro849=)
c.66A>T (p.Pro22=)
c.2436A>T (p.Pro812=)
n.582+5964T>A
c.2121A>T (p.Pro707=)
c.2118A>T (p.Pro706=)
n.2909A>T
n.2744A>T
n.601-2871T>A
n.475+7852T>A
n.600+5964T>A
3g.193662957A>CCA355793340OPA1c.2656A>C (p.Ser886Arg)
c.2491A>C (p.Ser831Arg)
c.2602A>C (p.Ser868Arg)
c.2545A>C (p.Ser849Arg)
c.2430A>C
c.*716A>C (n.*716A>C)
c.2173A>C (p.Ser725Arg)
c.*2572A>C (n.*2572A>C)
c.2078A>C
c.*975A>C (n.*975A>C)
c.2485A>C
c.2506A>C (p.Ser836Arg)
c.*1969A>C (n.*1969A>C)
c.*1092A>C (n.*1092A>C)
c.1479A>C
c.2383A>C (p.Ser795Arg)
c.2494A>C (p.Ser832Arg)
c.2548A>C (p.Ser850Arg)
c.67A>C (p.Ser23Arg)
c.2437A>C (p.Ser813Arg)
n.582+5963T>G
c.2122A>C (p.Ser708Arg)
c.2119A>C (p.Ser707Arg)
n.2910A>C
n.2745A>C
n.601-2872T>G
n.475+7851T>G
n.600+5963T>G
3g.193662957A>GCA355793337OPA1c.2656A>G (p.Ser886Gly)
c.2491A>G (p.Ser831Gly)
c.2602A>G (p.Ser868Gly)
c.2545A>G (p.Ser849Gly)
c.2430A>G
c.*716A>G (n.*716A>G)
c.2173A>G (p.Ser725Gly)
c.*2572A>G (n.*2572A>G)
c.2078A>G
c.*975A>G (n.*975A>G)
c.2485A>G
c.2506A>G (p.Ser836Gly)
c.*1969A>G (n.*1969A>G)
c.*1092A>G (n.*1092A>G)
c.1479A>G
c.2383A>G (p.Ser795Gly)
c.2494A>G (p.Ser832Gly)
c.2548A>G (p.Ser850Gly)
c.67A>G (p.Ser23Gly)
c.2437A>G (p.Ser813Gly)
n.582+5963T>C
c.2122A>G (p.Ser708Gly)
c.2119A>G (p.Ser707Gly)
n.2910A>G
n.2745A>G
n.601-2872T>C
n.475+7851T>C
n.600+5963T>C
3g.193662957A>TCA355793338OPA1c.2656A>T (p.Ser886Cys)
c.2491A>T (p.Ser831Cys)
c.2602A>T (p.Ser868Cys)
c.2545A>T (p.Ser849Cys)
c.2430A>T
c.*716A>T (n.*716A>T)
c.2173A>T (p.Ser725Cys)
c.*2572A>T (n.*2572A>T)
c.2078A>T
c.*975A>T (n.*975A>T)
c.2485A>T
c.2506A>T (p.Ser836Cys)
c.*1969A>T (n.*1969A>T)
c.*1092A>T (n.*1092A>T)
c.1479A>T
c.2383A>T (p.Ser795Cys)
c.2494A>T (p.Ser832Cys)
c.2548A>T (p.Ser850Cys)
c.67A>T (p.Ser23Cys)
c.2437A>T (p.Ser813Cys)
n.582+5963T>A
c.2122A>T (p.Ser708Cys)
c.2119A>T (p.Ser707Cys)
n.2910A>T
n.2745A>T
n.601-2872T>A
n.475+7851T>A
n.600+5963T>A
3g.193662958G>ACA355793341OPA1c.2657G>A (p.Ser886Asn)
c.2492G>A (p.Ser831Asn)
c.2603G>A (p.Ser868Asn)
c.2546G>A (p.Ser849Asn)
c.2431G>A
c.*717G>A (n.*717G>A)
c.2174G>A (p.Ser725Asn)
c.*2573G>A (n.*2573G>A)
c.2079G>A
c.*976G>A (n.*976G>A)
c.2486G>A
c.2507G>A (p.Ser836Asn)
c.*1970G>A (n.*1970G>A)
c.*1093G>A (n.*1093G>A)
c.1480G>A
c.2384G>A (p.Ser795Asn)
c.2495G>A (p.Ser832Asn)
c.2549G>A (p.Ser850Asn)
c.68G>A (p.Ser23Asn)
c.2438G>A (p.Ser813Asn)
n.582+5962C>T
c.2123G>A (p.Ser708Asn)
c.2120G>A (p.Ser707Asn)
n.2911G>A
n.2746G>A
n.601-2873C>T
n.475+7850C>T
n.600+5962C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.193662958G>CCA355793343OPA1c.2657G>C (p.Ser886Thr)
c.2492G>C (p.Ser831Thr)
c.2603G>C (p.Ser868Thr)
c.2546G>C (p.Ser849Thr)
c.2431G>C
c.*717G>C (n.*717G>C)
c.2174G>C (p.Ser725Thr)
c.*2573G>C (n.*2573G>C)
c.2079G>C
c.*976G>C (n.*976G>C)
c.2486G>C
c.2507G>C (p.Ser836Thr)
c.*1970G>C (n.*1970G>C)
c.*1093G>C (n.*1093G>C)
c.1480G>C
c.2384G>C (p.Ser795Thr)
c.2495G>C (p.Ser832Thr)
c.2549G>C (p.Ser850Thr)
c.68G>C (p.Ser23Thr)
c.2438G>C (p.Ser813Thr)
n.582+5962C>G
c.2123G>C (p.Ser708Thr)
c.2120G>C (p.Ser707Thr)
n.2911G>C
n.2746G>C
n.601-2873C>G
n.475+7850C>G
n.600+5962C>G
3g.193662958G=CA1430270722OPA1c.2657G= (p.Ser886=)
c.2492G= (p.Ser831=)
c.2603G= (p.Ser868=)
c.2546G= (p.Ser849=)
c.2431G=
c.*717G= (n.*717G=)
c.2174G= (p.Ser725=)
c.*2573G= (n.*2573G=)
c.2079G=
c.*976G= (n.*976G=)
c.2486G=
c.2507G= (p.Ser836=)
c.*1970G= (n.*1970G=)
c.*1093G= (n.*1093G=)
c.1480G=
c.2384G= (p.Ser795=)
c.2495G= (p.Ser832=)
c.2549G= (p.Ser850=)
c.68G= (p.Ser23=)
c.2438G= (p.Ser813=)
n.582+5962C=
c.2123G= (p.Ser708=)
c.2120G= (p.Ser707=)
n.2911G=
n.2746G=
n.601-2873C=
n.475+7850C=
n.600+5962C=
3g.193662958G>TCA355793345OPA1c.2657G>T (p.Ser886Ile)
c.2492G>T (p.Ser831Ile)
c.2603G>T (p.Ser868Ile)
c.2546G>T (p.Ser849Ile)
c.2431G>T
c.*717G>T (n.*717G>T)
c.2174G>T (p.Ser725Ile)
c.*2573G>T (n.*2573G>T)
c.2079G>T
c.*976G>T (n.*976G>T)
c.2486G>T
c.2507G>T (p.Ser836Ile)
c.*1970G>T (n.*1970G>T)
c.*1093G>T (n.*1093G>T)
c.1480G>T
c.2384G>T (p.Ser795Ile)
c.2495G>T (p.Ser832Ile)
c.2549G>T (p.Ser850Ile)
c.68G>T (p.Ser23Ile)
c.2438G>T (p.Ser813Ile)
n.582+5962C>A
c.2123G>T (p.Ser708Ile)
c.2120G>T (p.Ser707Ile)
n.2911G>T
n.2746G>T
n.601-2873C>A
n.475+7850C>A
n.600+5962C>A
3g.193662958_193662960delinsGCTCA1430270723OPA1c.2657_2659delinsGCT (p.Ser886=)
c.2492_2494delinsGCT (p.Ser831=)
c.2603_2605delinsGCT (p.Ser868=)
c.2546_2548delinsGCT (p.Ser849=)
c.2431_2433delinsGCT
c.*717_*719delinsGCT (n.*717_*719delinsGCT)
c.2174_2176delinsGCT (p.Ser725=)
c.*2573_*2575delinsGCT (n.*2573_*2575delinsGCT)
c.2079_2081delinsGCT
c.*976_*978delinsGCT (n.*976_*978delinsGCT)
c.2486_2488delinsGCT
c.2507_2509delinsGCT (p.Ser836=)
c.*1970_*1972delinsGCT (n.*1970_*1972delinsGCT)
c.*1093_*1095delinsGCT (n.*1093_*1095delinsGCT)
c.1480_1482delinsGCT
c.2384_2386delinsGCT (p.Ser795=)
c.2495_2497delinsGCT (p.Ser832=)
c.2549_2551delinsGCT (p.Ser850=)
c.68_70delinsGCT (p.Ser23=)
c.2438_2440delinsGCT (p.Ser813=)
n.582+5960_582+5962delinsAGC
c.2123_2125delinsGCT (p.Ser708=)
c.2120_2122delinsGCT (p.Ser707=)
n.2911_2913delinsGCT
n.2746_2748delinsGCT
n.601-2875_601-2873delinsAGC
n.475+7848_475+7850delinsAGC
n.600+5960_600+5962delinsAGC
3g.193662959C>ACA355793347OPA1c.2658C>A (p.Ser886Arg)
c.2493C>A (p.Ser831Arg)
c.2604C>A (p.Ser868Arg)
c.2547C>A (p.Ser849Arg)
c.2432C>A
c.*718C>A (n.*718C>A)
c.2175C>A (p.Ser725Arg)
c.*2574C>A (n.*2574C>A)
c.2080C>A
c.*977C>A (n.*977C>A)
c.2487C>A
c.2508C>A (p.Ser836Arg)
c.*1971C>A (n.*1971C>A)
c.*1094C>A (n.*1094C>A)
c.1481C>A
c.2385C>A (p.Ser795Arg)
c.2496C>A (p.Ser832Arg)
c.2550C>A (p.Ser850Arg)
c.69C>A (p.Ser23Arg)
c.2439C>A (p.Ser813Arg)
n.582+5961G>T
c.2124C>A (p.Ser708Arg)
c.2121C>A (p.Ser707Arg)
n.2912C>A
n.2747C>A
n.601-2874G>T
n.475+7849G>T
n.600+5961G>T
3g.193662959C>GCA355793349OPA1c.2658C>G (p.Ser886Arg)
c.2493C>G (p.Ser831Arg)
c.2604C>G (p.Ser868Arg)
c.2547C>G (p.Ser849Arg)
c.2432C>G
c.*718C>G (n.*718C>G)
c.2175C>G (p.Ser725Arg)
c.*2574C>G (n.*2574C>G)
c.2080C>G
c.*977C>G (n.*977C>G)
c.2487C>G
c.2508C>G (p.Ser836Arg)
c.*1971C>G (n.*1971C>G)
c.*1094C>G (n.*1094C>G)
c.1481C>G
c.2385C>G (p.Ser795Arg)
c.2496C>G (p.Ser832Arg)
c.2550C>G (p.Ser850Arg)
c.69C>G (p.Ser23Arg)
c.2439C>G (p.Ser813Arg)
n.582+5961G>C
c.2124C>G (p.Ser708Arg)
c.2121C>G (p.Ser707Arg)
n.2912C>G
n.2747C>G
n.601-2874G>C
n.475+7849G>C
n.600+5961G>C
3g.193662959C>TCA437441679OPA1c.2658C>T (p.Ser886=)
c.2493C>T (p.Ser831=)
c.2604C>T (p.Ser868=)
c.2547C>T (p.Ser849=)
c.2432C>T
c.*718C>T (n.*718C>T)
c.2175C>T (p.Ser725=)
c.*2574C>T (n.*2574C>T)
c.2080C>T
c.*977C>T (n.*977C>T)
c.2487C>T
c.2508C>T (p.Ser836=)
c.*1971C>T (n.*1971C>T)
c.*1094C>T (n.*1094C>T)
c.1481C>T
c.2385C>T (p.Ser795=)
c.2496C>T (p.Ser832=)
c.2550C>T (p.Ser850=)
c.69C>T (p.Ser23=)
c.2439C>T (p.Ser813=)
n.582+5961G>A
c.2124C>T (p.Ser708=)
c.2121C>T (p.Ser707=)
n.2912C>T
n.2747C>T
n.601-2874G>A
n.475+7849G>A
n.600+5961G>A
3g.193662959_193662960delCA548824651OPA1c.2658_2659del (p.Leu887AspfsTer2)
c.2493_2494del (p.Leu832AspfsTer2)
c.2604_2605del (p.Leu869AspfsTer2)
c.2547_2548del (p.Leu850AspfsTer2)
c.2432_2433del
c.*718_*719del (n.*718_*719del)
c.2175_2176del (p.Leu726AspfsTer2)
c.*2574_*2575del (n.*2574_*2575del)
c.2080_2081del
c.*977_*978del (n.*977_*978del)
c.2487_2488del
c.2508_2509del (p.Leu837AspfsTer2)
c.*1971_*1972del (n.*1971_*1972del)
c.*1094_*1095del (n.*1094_*1095del)
c.1481_1482del
c.2385_2386del (p.Leu796AspfsTer2)
c.2496_2497del (p.Leu833AspfsTer2)
c.2550_2551del (p.Leu851AspfsTer2)
c.69_70del (p.Leu24AspfsTer2)
c.2439_2440del (p.Leu814AspfsTer2)
n.582+5960_582+5961del
c.2124_2125del (p.Leu709AspfsTer2)
c.2121_2122del (p.Leu708AspfsTer2)
n.2912_2913del
n.2747_2748del
n.601-2875_601-2874del
n.475+7848_475+7849del
n.600+5960_600+5961del
 dbSNP gnomAD v2 gnomAD v4
3g.193662960T>ACA355793351OPA1c.2659T>A (p.Leu887Met)
c.2494T>A (p.Leu832Met)
c.2605T>A (p.Leu869Met)
c.2548T>A (p.Leu850Met)
c.2433T>A
c.*719T>A (n.*719T>A)
c.2176T>A (p.Leu726Met)
c.*2575T>A (n.*2575T>A)
c.2081T>A
c.*978T>A (n.*978T>A)
c.2488T>A
c.2509T>A (p.Leu837Met)
c.*1972T>A (n.*1972T>A)
c.*1095T>A (n.*1095T>A)
c.1482T>A
c.2386T>A (p.Leu796Met)
c.2497T>A (p.Leu833Met)
c.2551T>A (p.Leu851Met)
c.70T>A (p.Leu24Met)
c.2440T>A (p.Leu814Met)
n.582+5960A>T
c.2125T>A (p.Leu709Met)
c.2122T>A (p.Leu708Met)
n.2913T>A
n.2748T>A
n.601-2875A>T
n.475+7848A>T
n.600+5960A>T
3g.193662960T>CCA437441680OPA1c.2659T>C (p.Leu887=)
c.2494T>C (p.Leu832=)
c.2605T>C (p.Leu869=)
c.2548T>C (p.Leu850=)
c.2433T>C
c.*719T>C (n.*719T>C)
c.2176T>C (p.Leu726=)
c.*2575T>C (n.*2575T>C)
c.2081T>C
c.*978T>C (n.*978T>C)
c.2488T>C
c.2509T>C (p.Leu837=)
c.*1972T>C (n.*1972T>C)
c.*1095T>C (n.*1095T>C)
c.1482T>C
c.2386T>C (p.Leu796=)
c.2497T>C (p.Leu833=)
c.2551T>C (p.Leu851=)
c.70T>C (p.Leu24=)
c.2440T>C (p.Leu814=)
n.582+5960A>G
c.2125T>C (p.Leu709=)
c.2122T>C (p.Leu708=)
n.2913T>C
n.2748T>C
n.601-2875A>G
n.475+7848A>G
n.600+5960A>G
3g.193662960T>GCA355793352OPA1c.2659T>G (p.Leu887Val)
c.2494T>G (p.Leu832Val)
c.2605T>G (p.Leu869Val)
c.2548T>G (p.Leu850Val)
c.2433T>G
c.*719T>G (n.*719T>G)
c.2176T>G (p.Leu726Val)
c.*2575T>G (n.*2575T>G)
c.2081T>G
c.*978T>G (n.*978T>G)
c.2488T>G
c.2509T>G (p.Leu837Val)
c.*1972T>G (n.*1972T>G)
c.*1095T>G (n.*1095T>G)
c.1482T>G
c.2386T>G (p.Leu796Val)
c.2497T>G (p.Leu833Val)
c.2551T>G (p.Leu851Val)
c.70T>G (p.Leu24Val)
c.2440T>G (p.Leu814Val)
n.582+5960A>C
c.2125T>G (p.Leu709Val)
c.2122T>G (p.Leu708Val)
n.2913T>G
n.2748T>G
n.601-2875A>C
n.475+7848A>C
n.600+5960A>C
3g.193662960_193662961insACACA2759950951OPA1c.2659_2660insACA (p.Leu887delinsTyrMet)
c.2494_2495insACA (p.Leu832delinsTyrMet)
c.2605_2606insACA (p.Leu869delinsTyrMet)
c.2548_2549insACA (p.Leu850delinsTyrMet)
c.2433_2434insACA
c.*719_*720insACA (n.*719_*720insACA)
c.2176_2177insACA (p.Leu726delinsTyrMet)
c.*2575_*2576insACA (n.*2575_*2576insACA)
c.2081_2082insACA
c.*978_*979insACA (n.*978_*979insACA)
c.2488_2489insACA
c.2509_2510insACA (p.Leu837delinsTyrMet)
c.*1972_*1973insACA (n.*1972_*1973insACA)
c.*1095_*1096insACA (n.*1095_*1096insACA)
c.1482_1483insACA
c.2386_2387insACA (p.Leu796delinsTyrMet)
c.2497_2498insACA (p.Leu833delinsTyrMet)
c.2551_2552insACA (p.Leu851delinsTyrMet)
c.70_71insACA (p.Leu24delinsTyrMet)
c.2440_2441insACA (p.Leu814delinsTyrMet)
n.582+5959_582+5960insTGT
c.2125_2126insACA (p.Leu709delinsTyrMet)
c.2122_2123insACA (p.Leu708delinsTyrMet)
n.2913_2914insACA
n.2748_2749insACA
n.601-2876_601-2875insTGT
n.475+7847_475+7848insTGT
n.600+5959_600+5960insTGT
3g.193662961T>ACA355793359OPA1c.2660T>A (p.Leu887Ter)
c.2495T>A (p.Leu832Ter)
c.2606T>A (p.Leu869Ter)
c.2549T>A (p.Leu850Ter)
c.2434T>A
c.*720T>A (n.*720T>A)
c.2177T>A (p.Leu726Ter)
c.*2576T>A (n.*2576T>A)
c.2082T>A
c.*979T>A (n.*979T>A)
c.2489T>A
c.2510T>A (p.Leu837Ter)
c.*1973T>A (n.*1973T>A)
c.*1096T>A (n.*1096T>A)
c.1483T>A
c.2387T>A (p.Leu796Ter)
c.2498T>A (p.Leu833Ter)
c.2552T>A (p.Leu851Ter)
c.71T>A (p.Leu24Ter)
c.2441T>A (p.Leu814Ter)
n.582+5959A>T
c.2126T>A (p.Leu709Ter)
c.2123T>A (p.Leu708Ter)
n.2914T>A
n.2749T>A
n.601-2876A>T
n.475+7847A>T
n.600+5959A>T
3g.193662961T>CCA355793362OPA1c.2660T>C (p.Leu887Ser)
c.2495T>C (p.Leu832Ser)
c.2606T>C (p.Leu869Ser)
c.2549T>C (p.Leu850Ser)
c.2434T>C
c.*720T>C (n.*720T>C)
c.2177T>C (p.Leu726Ser)
c.*2576T>C (n.*2576T>C)
c.2082T>C
c.*979T>C (n.*979T>C)
c.2489T>C
c.2510T>C (p.Leu837Ser)
c.*1973T>C (n.*1973T>C)
c.*1096T>C (n.*1096T>C)
c.1483T>C
c.2387T>C (p.Leu796Ser)
c.2498T>C (p.Leu833Ser)
c.2552T>C (p.Leu851Ser)
c.71T>C (p.Leu24Ser)
c.2441T>C (p.Leu814Ser)
n.582+5959A>G
c.2126T>C (p.Leu709Ser)
c.2123T>C (p.Leu708Ser)
n.2914T>C
n.2749T>C
n.601-2876A>G
n.475+7847A>G
n.600+5959A>G
3g.193662961T>GCA355793364OPA1c.2660T>G (p.Leu887Trp)
c.2495T>G (p.Leu832Trp)
c.2606T>G (p.Leu869Trp)
c.2549T>G (p.Leu850Trp)
c.2434T>G
c.*720T>G (n.*720T>G)
c.2177T>G (p.Leu726Trp)
c.*2576T>G (n.*2576T>G)
c.2082T>G
c.*979T>G (n.*979T>G)
c.2489T>G
c.2510T>G (p.Leu837Trp)
c.*1973T>G (n.*1973T>G)
c.*1096T>G (n.*1096T>G)
c.1483T>G
c.2387T>G (p.Leu796Trp)
c.2498T>G (p.Leu833Trp)
c.2552T>G (p.Leu851Trp)
c.71T>G (p.Leu24Trp)
c.2441T>G (p.Leu814Trp)
n.582+5959A>C
c.2126T>G (p.Leu709Trp)
c.2123T>G (p.Leu708Trp)
n.2914T>G
n.2749T>G
n.601-2876A>C
n.475+7847A>C
n.600+5959A>C
3g.193662961T=CA1430270726OPA1c.2660T= (p.Leu887=)
c.2495T= (p.Leu832=)
c.2606T= (p.Leu869=)
c.2549T= (p.Leu850=)
c.2434T=
c.*720T= (n.*720T=)
c.2177T= (p.Leu726=)
c.*2576T= (n.*2576T=)
c.2082T=
c.*979T= (n.*979T=)
c.2489T=
c.2510T= (p.Leu837=)
c.*1973T= (n.*1973T=)
c.*1096T= (n.*1096T=)
c.1483T=
c.2387T= (p.Leu796=)
c.2498T= (p.Leu833=)
c.2552T= (p.Leu851=)
c.71T= (p.Leu24=)
c.2441T= (p.Leu814=)
n.582+5959A=
c.2126T= (p.Leu709=)
c.2123T= (p.Leu708=)
n.2914T=
n.2749T=
n.601-2876A=
n.475+7847A=
n.600+5959A=
3g.193662961_193662962insAGATCCACA548824652OPA1c.2660_2661insAGATCCA (p.Ile888AspfsTer4)
c.2495_2496insAGATCCA (p.Ile833AspfsTer4)
c.2606_2607insAGATCCA (p.Ile870AspfsTer4)
c.2549_2550insAGATCCA (p.Ile851AspfsTer4)
c.2434_2435insAGATCCA
c.*720_*721insAGATCCA (n.*720_*721insAGATCCA)
c.2177_2178insAGATCCA (p.Ile727AspfsTer4)
c.*2576_*2577insAGATCCA (n.*2576_*2577insAGATCCA)
c.2082_2083insAGATCCA
c.*979_*980insAGATCCA (n.*979_*980insAGATCCA)
c.2489_2490insAGATCCA
c.2510_2511insAGATCCA (p.Ile838AspfsTer4)
c.*1973_*1974insAGATCCA (n.*1973_*1974insAGATCCA)
c.*1096_*1097insAGATCCA (n.*1096_*1097insAGATCCA)
c.1483_1484insAGATCCA
c.2387_2388insAGATCCA (p.Ile797AspfsTer4)
c.2498_2499insAGATCCA (p.Ile834AspfsTer4)
c.2552_2553insAGATCCA (p.Ile852AspfsTer4)
c.71_72insAGATCCA (p.Ile25AspfsTer4)
c.2441_2442insAGATCCA (p.Ile815AspfsTer4)
n.582+5958_582+5959insTGGATCT
c.2126_2127insAGATCCA (p.Ile710AspfsTer4)
c.2123_2124insAGATCCA (p.Ile709AspfsTer4)
n.2914_2915insAGATCCA
n.2749_2750insAGATCCA
n.601-2877_601-2876insTGGATCT
n.475+7846_475+7847insTGGATCT
n.600+5958_600+5959insTGGATCT
 dbSNP gnomAD v2 gnomAD v4
3g.193662962G>ACA437441681OPA1c.2661G>A (p.Leu887=)
c.2496G>A (p.Leu832=)
c.2607G>A (p.Leu869=)
c.2550G>A (p.Leu850=)
c.2435G>A
c.*721G>A (n.*721G>A)
c.2178G>A (p.Leu726=)
c.*2577G>A (n.*2577G>A)
c.2083G>A
c.*980G>A (n.*980G>A)
c.2490G>A
c.2511G>A (p.Leu837=)
c.*1974G>A (n.*1974G>A)
c.*1097G>A (n.*1097G>A)
c.1484G>A
c.2388G>A (p.Leu796=)
c.2499G>A (p.Leu833=)
c.2553G>A (p.Leu851=)
c.72G>A (p.Leu24=)
c.2442G>A (p.Leu814=)
n.582+5958C>T
c.2127G>A (p.Leu709=)
c.2124G>A (p.Leu708=)
n.2915G>A
n.2750G>A
n.601-2877C>T
n.475+7846C>T
n.600+5958C>T
 ClinVar dbSNP
3g.193662962G>CCA355793368OPA1c.2661G>C (p.Leu887Phe)
c.2496G>C (p.Leu832Phe)
c.2607G>C (p.Leu869Phe)
c.2550G>C (p.Leu850Phe)
c.2435G>C
c.*721G>C (n.*721G>C)
c.2178G>C (p.Leu726Phe)
c.*2577G>C (n.*2577G>C)
c.2083G>C
c.*980G>C (n.*980G>C)
c.2490G>C
c.2511G>C (p.Leu837Phe)
c.*1974G>C (n.*1974G>C)
c.*1097G>C (n.*1097G>C)
c.1484G>C
c.2388G>C (p.Leu796Phe)
c.2499G>C (p.Leu833Phe)
c.2553G>C (p.Leu851Phe)
c.72G>C (p.Leu24Phe)
c.2442G>C (p.Leu814Phe)
n.582+5958C>G
c.2127G>C (p.Leu709Phe)
c.2124G>C (p.Leu708Phe)
n.2915G>C
n.2750G>C
n.601-2877C>G
n.475+7846C>G
n.600+5958C>G
 gnomAD v4
3g.193662962G>TCA355793369OPA1c.2661G>T (p.Leu887Phe)
c.2496G>T (p.Leu832Phe)
c.2607G>T (p.Leu869Phe)
c.2550G>T (p.Leu850Phe)
c.2435G>T
c.*721G>T (n.*721G>T)
c.2178G>T (p.Leu726Phe)
c.*2577G>T (n.*2577G>T)
c.2083G>T
c.*980G>T (n.*980G>T)
c.2490G>T
c.2511G>T (p.Leu837Phe)
c.*1974G>T (n.*1974G>T)
c.*1097G>T (n.*1097G>T)
c.1484G>T
c.2388G>T (p.Leu796Phe)
c.2499G>T (p.Leu833Phe)
c.2553G>T (p.Leu851Phe)
c.72G>T (p.Leu24Phe)
c.2442G>T (p.Leu814Phe)
n.582+5958C>A
c.2127G>T (p.Leu709Phe)
c.2124G>T (p.Leu708Phe)
n.2915G>T
n.2750G>T
n.601-2877C>A
n.475+7846C>A
n.600+5958C>A
3g.193662962_193662963insATTAAGGATACTTGGCATCAACA2704977681OPA1c.2661_2661+1insATTAAGGATACTTGGCATCAA (n.2661_2661+1insATTAAGGATACTTGGCATCAA)
c.2496_2496+1insATTAAGGATACTTGGCATCAA (n.2496_2496+1insATTAAGGATACTTGGCATCAA)
c.2607_2607+1insATTAAGGATACTTGGCATCAA (n.2607_2607+1insATTAAGGATACTTGGCATCAA)
c.2550_2550+1insATTAAGGATACTTGGCATCAA (n.2550_2550+1insATTAAGGATACTTGGCATCAA)
c.2435_2435+1insATTAAGGATACTTGGCATCAA
c.*721_*721+1insATTAAGGATACTTGGCATCAA (n.*721_*721+1insATTAAGGATACTTGGCATCAA)
c.2178_2178+1insATTAAGGATACTTGGCATCAA (n.2178_2178+1insATTAAGGATACTTGGCATCAA)
c.*2577_*2577+1insATTAAGGATACTTGGCATCAA (n.*2577_*2577+1insATTAAGGATACTTGGCATCAA)
c.2083_2083+1insATTAAGGATACTTGGCATCAA
c.*980_*980+1insATTAAGGATACTTGGCATCAA (n.*980_*980+1insATTAAGGATACTTGGCATCAA)
c.2490_2490+1insATTAAGGATACTTGGCATCAA
c.2511_2511+1insATTAAGGATACTTGGCATCAA (n.2511_2511+1insATTAAGGATACTTGGCATCAA)
c.*1974_*1974+1insATTAAGGATACTTGGCATCAA (n.*1974_*1974+1insATTAAGGATACTTGGCATCAA)
c.*1097_*1097+1insATTAAGGATACTTGGCATCAA (n.*1097_*1097+1insATTAAGGATACTTGGCATCAA)
c.1484_1484+1insATTAAGGATACTTGGCATCAA
c.2388_2388+1insATTAAGGATACTTGGCATCAA (n.2388_2388+1insATTAAGGATACTTGGCATCAA)
c.2499_2499+1insATTAAGGATACTTGGCATCAA (n.2499_2499+1insATTAAGGATACTTGGCATCAA)
c.2553_2553+1insATTAAGGATACTTGGCATCAA (n.2553_2553+1insATTAAGGATACTTGGCATCAA)
c.72_72+1insATTAAGGATACTTGGCATCAA (n.72_72+1insATTAAGGATACTTGGCATCAA)
c.2442_2442+1insATTAAGGATACTTGGCATCAA (n.2442_2442+1insATTAAGGATACTTGGCATCAA)
n.582+5957_582+5958insTTGATGCCAAGTATCCTTAAT
c.2127_2127+1insATTAAGGATACTTGGCATCAA (n.2127_2127+1insATTAAGGATACTTGGCATCAA)
c.2124_2124+1insATTAAGGATACTTGGCATCAA (n.2124_2124+1insATTAAGGATACTTGGCATCAA)
n.2915_2915+1insATTAAGGATACTTGGCATCAA
n.2750_2750+1insATTAAGGATACTTGGCATCAA
n.601-2878_601-2877insTTGATGCCAAGTATCCTTAAT
n.475+7845_475+7846insTTGATGCCAAGTATCCTTAAT
n.600+5957_600+5958insTTGATGCCAAGTATCCTTAAT
 dbSNP
3g.193662963G>ACA355793376OPA1c.2661+1G>A (n.2661+1G>A)
c.2496+1G>A (n.2496+1G>A)
c.2607+1G>A (n.2607+1G>A)
c.2550+1G>A (n.2550+1G>A)
c.2435+1G>A
c.*721+1G>A (n.*721+1G>A)
c.2178+1G>A (n.2178+1G>A)
c.*2577+1G>A (n.*2577+1G>A)
c.2083+1G>A
c.*980+1G>A (n.*980+1G>A)
c.2490+1G>A
c.2511+1G>A (n.2511+1G>A)
c.*1974+1G>A (n.*1974+1G>A)
c.*1097+1G>A (n.*1097+1G>A)
c.1484+1G>A
c.2388+1G>A (n.2388+1G>A)
c.2499+1G>A (n.2499+1G>A)
c.2553+1G>A (n.2553+1G>A)
c.72+1G>A (n.72+1G>A)
c.2442+1G>A (n.2442+1G>A)
n.582+5957C>T
c.2127+1G>A (n.2127+1G>A)
c.2124+1G>A (n.2124+1G>A)
n.2915+1G>A
n.2750+1G>A
n.601-2878C>T
n.475+7845C>T
n.600+5957C>T
 ClinVar dbSNP
3g.193662963G>CCA355793374OPA1c.2661+1G>C (n.2661+1G>C)
c.2496+1G>C (n.2496+1G>C)
c.2607+1G>C (n.2607+1G>C)
c.2550+1G>C (n.2550+1G>C)
c.2435+1G>C
c.*721+1G>C (n.*721+1G>C)
c.2178+1G>C (n.2178+1G>C)
c.*2577+1G>C (n.*2577+1G>C)
c.2083+1G>C
c.*980+1G>C (n.*980+1G>C)
c.2490+1G>C
c.2511+1G>C (n.2511+1G>C)
c.*1974+1G>C (n.*1974+1G>C)
c.*1097+1G>C (n.*1097+1G>C)
c.1484+1G>C
c.2388+1G>C (n.2388+1G>C)
c.2499+1G>C (n.2499+1G>C)
c.2553+1G>C (n.2553+1G>C)
c.72+1G>C (n.72+1G>C)
c.2442+1G>C (n.2442+1G>C)
n.582+5957C>G
c.2127+1G>C (n.2127+1G>C)
c.2124+1G>C (n.2124+1G>C)
n.2915+1G>C
n.2750+1G>C
n.601-2878C>G
n.475+7845C>G
n.600+5957C>G
3g.193662963G=CA1430270728OPA1c.2661+1G= (n.2661+1G=)
c.2496+1G= (n.2496+1G=)
c.2607+1G= (n.2607+1G=)
c.2550+1G= (n.2550+1G=)
c.2435+1G=
c.*721+1G= (n.*721+1G=)
c.2178+1G= (n.2178+1G=)
c.*2577+1G= (n.*2577+1G=)
c.2083+1G=
c.*980+1G= (n.*980+1G=)
c.2490+1G=
c.2511+1G= (n.2511+1G=)
c.*1974+1G= (n.*1974+1G=)
c.*1097+1G= (n.*1097+1G=)
c.1484+1G=
c.2388+1G= (n.2388+1G=)
c.2499+1G= (n.2499+1G=)
c.2553+1G= (n.2553+1G=)
c.72+1G= (n.72+1G=)
c.2442+1G= (n.2442+1G=)
n.582+5957C=
c.2127+1G= (n.2127+1G=)
c.2124+1G= (n.2124+1G=)
n.2915+1G=
n.2750+1G=
n.601-2878C=
n.475+7845C=
n.600+5957C=
3g.193662963G>TCA275121OPA1c.2661+1G>T (n.2661+1G>T)
c.2496+1G>T (n.2496+1G>T)
c.2607+1G>T (n.2607+1G>T)
c.2550+1G>T (n.2550+1G>T)
c.2435+1G>T
c.*721+1G>T (n.*721+1G>T)
c.2178+1G>T (n.2178+1G>T)
c.*2577+1G>T (n.*2577+1G>T)
c.2083+1G>T
c.*980+1G>T (n.*980+1G>T)
c.2490+1G>T
c.2511+1G>T (n.2511+1G>T)
c.*1974+1G>T (n.*1974+1G>T)
c.*1097+1G>T (n.*1097+1G>T)
c.1484+1G>T
c.2388+1G>T (n.2388+1G>T)
c.2499+1G>T (n.2499+1G>T)
c.2553+1G>T (n.2553+1G>T)
c.72+1G>T (n.72+1G>T)
c.2442+1G>T (n.2442+1G>T)
n.582+5957C>A
c.2127+1G>T (n.2127+1G>T)
c.2124+1G>T (n.2124+1G>T)
n.2915+1G>T
n.2750+1G>T
n.601-2878C>A
n.475+7845C>A
n.600+5957C>A
 ClinVar dbSNP

Number of alleles fetched