Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.193658876_193658878delCA2740496098OPA1c.2332-11_2332-9del (n.2332-11_2332-9del)
c.2167-11_2167-9del (n.2167-11_2167-9del)
c.2278-11_2278-9del (n.2278-11_2278-9del)
c.2221-11_2221-9del (n.2221-11_2221-9del)
c.2106-11_2106-9del
c.*392-11_*392-9del (n.*392-11_*392-9del)
c.1849-11_1849-9del (n.1849-11_1849-9del)
c.*2248-11_*2248-9del (n.*2248-11_*2248-9del)
c.1754-11_1754-9del
c.*651-11_*651-9del (n.*651-11_*651-9del)
c.2161-11_2161-9del
c.2182-11_2182-9del (n.2182-11_2182-9del)
c.*1645-11_*1645-9del (n.*1645-11_*1645-9del)
c.*768-11_*768-9del (n.*768-11_*768-9del)
c.1155-11_1155-9del
c.2059-11_2059-9del (n.2059-11_2059-9del)
c.2170-11_2170-9del (n.2170-11_2170-9del)
c.2224-11_2224-9del (n.2224-11_2224-9del)
n.426-11_426-9del
c.2113-11_2113-9del (n.2113-11_2113-9del)
n.582+10044_582+10046del
c.1798-11_1798-9del (n.1798-11_1798-9del)
c.1795-11_1795-9del (n.1795-11_1795-9del)
n.2586-11_2586-9del
n.2421-11_2421-9del
n.476-11566_476-11564del
n.600+10044_600+10046del
3g.193658877T>ACA2669103740OPA1c.2332-10T>A (n.2332-10T>A)
c.2167-10T>A (n.2167-10T>A)
c.2278-10T>A (n.2278-10T>A)
c.2221-10T>A (n.2221-10T>A)
c.2106-10T>A
c.*392-10T>A (n.*392-10T>A)
c.1849-10T>A (n.1849-10T>A)
c.*2248-10T>A (n.*2248-10T>A)
c.1754-10T>A
c.*651-10T>A (n.*651-10T>A)
c.2161-10T>A
c.2182-10T>A (n.2182-10T>A)
c.*1645-10T>A (n.*1645-10T>A)
c.*768-10T>A (n.*768-10T>A)
c.1155-10T>A
c.2059-10T>A (n.2059-10T>A)
c.2170-10T>A (n.2170-10T>A)
c.2224-10T>A (n.2224-10T>A)
n.426-10T>A
c.2113-10T>A (n.2113-10T>A)
n.582+10043A>T
c.1798-10T>A (n.1798-10T>A)
c.1795-10T>A (n.1795-10T>A)
n.2586-10T>A
n.2421-10T>A
n.476-11567A>T
n.600+10043A>T
 gnomAD v4
3g.193658879A=CA1430264997OPA1c.2332-8A= (n.2332-8A=)
c.2167-8A= (n.2167-8A=)
c.2278-8A= (n.2278-8A=)
c.2221-8A= (n.2221-8A=)
c.2106-8A=
c.*392-8A= (n.*392-8A=)
c.1849-8A= (n.1849-8A=)
c.*2248-8A= (n.*2248-8A=)
c.1754-8A=
c.*651-8A= (n.*651-8A=)
c.2161-8A=
c.2182-8A= (n.2182-8A=)
c.*1645-8A= (n.*1645-8A=)
c.*768-8A= (n.*768-8A=)
c.1155-8A=
c.2059-8A= (n.2059-8A=)
c.2170-8A= (n.2170-8A=)
c.2224-8A= (n.2224-8A=)
n.426-8A=
c.2113-8A= (n.2113-8A=)
n.582+10041T=
c.1798-8A= (n.1798-8A=)
c.1795-8A= (n.1795-8A=)
n.2586-8A=
n.2421-8A=
n.476-11569T=
n.600+10041T=
3g.193658879A>GCA2669103741OPA1c.2332-8A>G (n.2332-8A>G)
c.2167-8A>G (n.2167-8A>G)
c.2278-8A>G (n.2278-8A>G)
c.2221-8A>G (n.2221-8A>G)
c.2106-8A>G
c.*392-8A>G (n.*392-8A>G)
c.1849-8A>G (n.1849-8A>G)
c.*2248-8A>G (n.*2248-8A>G)
c.1754-8A>G
c.*651-8A>G (n.*651-8A>G)
c.2161-8A>G
c.2182-8A>G (n.2182-8A>G)
c.*1645-8A>G (n.*1645-8A>G)
c.*768-8A>G (n.*768-8A>G)
c.1155-8A>G
c.2059-8A>G (n.2059-8A>G)
c.2170-8A>G (n.2170-8A>G)
c.2224-8A>G (n.2224-8A>G)
n.426-8A>G
c.2113-8A>G (n.2113-8A>G)
n.582+10041T>C
c.1798-8A>G (n.1798-8A>G)
c.1795-8A>G (n.1795-8A>G)
n.2586-8A>G
n.2421-8A>G
n.476-11569T>C
n.600+10041T>C
 gnomAD v4
3g.193658879A>TCA2759633OPA1c.2332-8A>T (n.2332-8A>T)
c.2167-8A>T (n.2167-8A>T)
c.2278-8A>T (n.2278-8A>T)
c.2221-8A>T (n.2221-8A>T)
c.2106-8A>T
c.*392-8A>T (n.*392-8A>T)
c.1849-8A>T (n.1849-8A>T)
c.*2248-8A>T (n.*2248-8A>T)
c.1754-8A>T
c.*651-8A>T (n.*651-8A>T)
c.2161-8A>T
c.2182-8A>T (n.2182-8A>T)
c.*1645-8A>T (n.*1645-8A>T)
c.*768-8A>T (n.*768-8A>T)
c.1155-8A>T
c.2059-8A>T (n.2059-8A>T)
c.2170-8A>T (n.2170-8A>T)
c.2224-8A>T (n.2224-8A>T)
n.426-8A>T
c.2113-8A>T (n.2113-8A>T)
n.582+10041T>A
c.1798-8A>T (n.1798-8A>T)
c.1795-8A>T (n.1795-8A>T)
n.2586-8A>T
n.2421-8A>T
n.476-11569T>A
n.600+10041T>A
 dbSNP ExAC gnomAD v2 COSMIC
3g.193658883delCA2552118968OPA1c.2332-4del (n.2332-4del)
c.2167-4del (n.2167-4del)
c.2278-4del (n.2278-4del)
c.2221-4del (n.2221-4del)
c.2106-4del
c.*392-4del (n.*392-4del)
c.1849-4del (n.1849-4del)
c.*2248-4del (n.*2248-4del)
c.1754-4del
c.*651-4del (n.*651-4del)
c.2161-4del
c.2182-4del (n.2182-4del)
c.*1645-4del (n.*1645-4del)
c.*768-4del (n.*768-4del)
c.1155-4del
c.2059-4del (n.2059-4del)
c.2170-4del (n.2170-4del)
c.2224-4del (n.2224-4del)
n.426-4del
c.2113-4del (n.2113-4del)
n.582+10040del
c.1798-4del (n.1798-4del)
c.1795-4del (n.1795-4del)
n.2586-4del
n.2421-4del
n.476-11570del
n.600+10040del
3g.193658883T>CCA2759950566OPA1c.2332-4T>C (n.2332-4T>C)
c.2167-4T>C (n.2167-4T>C)
c.2278-4T>C (n.2278-4T>C)
c.2221-4T>C (n.2221-4T>C)
c.2106-4T>C
c.*392-4T>C (n.*392-4T>C)
c.1849-4T>C (n.1849-4T>C)
c.*2248-4T>C (n.*2248-4T>C)
c.1754-4T>C
c.*651-4T>C (n.*651-4T>C)
c.2161-4T>C
c.2182-4T>C (n.2182-4T>C)
c.*1645-4T>C (n.*1645-4T>C)
c.*768-4T>C (n.*768-4T>C)
c.1155-4T>C
c.2059-4T>C (n.2059-4T>C)
c.2170-4T>C (n.2170-4T>C)
c.2224-4T>C (n.2224-4T>C)
n.426-4T>C
c.2113-4T>C (n.2113-4T>C)
n.582+10037A>G
c.1798-4T>C (n.1798-4T>C)
c.1795-4T>C (n.1795-4T>C)
n.2586-4T>C
n.2421-4T>C
n.476-11573A>G
n.600+10037A>G
3g.193658884C>ACA2669103742OPA1c.2332-3C>A (n.2332-3C>A)
c.2167-3C>A (n.2167-3C>A)
c.2278-3C>A (n.2278-3C>A)
c.2221-3C>A (n.2221-3C>A)
c.2106-3C>A
c.*392-3C>A (n.*392-3C>A)
c.1849-3C>A (n.1849-3C>A)
c.*2248-3C>A (n.*2248-3C>A)
c.1754-3C>A
c.*651-3C>A (n.*651-3C>A)
c.2161-3C>A
c.2182-3C>A (n.2182-3C>A)
c.*1645-3C>A (n.*1645-3C>A)
c.*768-3C>A (n.*768-3C>A)
c.1155-3C>A
c.2059-3C>A (n.2059-3C>A)
c.2170-3C>A (n.2170-3C>A)
c.2224-3C>A (n.2224-3C>A)
n.426-3C>A
c.2113-3C>A (n.2113-3C>A)
n.582+10036G>T
c.1798-3C>A (n.1798-3C>A)
c.1795-3C>A (n.1795-3C>A)
n.2586-3C>A
n.2421-3C>A
n.476-11574G>T
n.600+10036G>T
 gnomAD v4
3g.193658884C=CA1430265000OPA1c.2332-3C= (n.2332-3C=)
c.2167-3C= (n.2167-3C=)
c.2278-3C= (n.2278-3C=)
c.2221-3C= (n.2221-3C=)
c.2106-3C=
c.*392-3C= (n.*392-3C=)
c.1849-3C= (n.1849-3C=)
c.*2248-3C= (n.*2248-3C=)
c.1754-3C=
c.*651-3C= (n.*651-3C=)
c.2161-3C=
c.2182-3C= (n.2182-3C=)
c.*1645-3C= (n.*1645-3C=)
c.*768-3C= (n.*768-3C=)
c.1155-3C=
c.2059-3C= (n.2059-3C=)
c.2170-3C= (n.2170-3C=)
c.2224-3C= (n.2224-3C=)
n.426-3C=
c.2113-3C= (n.2113-3C=)
n.582+10036G=
c.1798-3C= (n.1798-3C=)
c.1795-3C= (n.1795-3C=)
n.2586-3C=
n.2421-3C=
n.476-11574G=
n.600+10036G=
3g.193658884C>TCA2759634OPA1c.2332-3C>T (n.2332-3C>T)
c.2167-3C>T (n.2167-3C>T)
c.2278-3C>T (n.2278-3C>T)
c.2221-3C>T (n.2221-3C>T)
c.2106-3C>T
c.*392-3C>T (n.*392-3C>T)
c.1849-3C>T (n.1849-3C>T)
c.*2248-3C>T (n.*2248-3C>T)
c.1754-3C>T
c.*651-3C>T (n.*651-3C>T)
c.2161-3C>T
c.2182-3C>T (n.2182-3C>T)
c.*1645-3C>T (n.*1645-3C>T)
c.*768-3C>T (n.*768-3C>T)
c.1155-3C>T
c.2059-3C>T (n.2059-3C>T)
c.2170-3C>T (n.2170-3C>T)
c.2224-3C>T (n.2224-3C>T)
n.426-3C>T
c.2113-3C>T (n.2113-3C>T)
n.582+10036G>A
c.1798-3C>T (n.1798-3C>T)
c.1795-3C>T (n.1795-3C>T)
n.2586-3C>T
n.2421-3C>T
n.476-11574G>A
n.600+10036G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.193658885A>CCA355791720OPA1c.2332-2A>C (n.2332-2A>C)
c.2167-2A>C (n.2167-2A>C)
c.2278-2A>C (n.2278-2A>C)
c.2221-2A>C (n.2221-2A>C)
c.2106-2A>C
c.*392-2A>C (n.*392-2A>C)
c.1849-2A>C (n.1849-2A>C)
c.*2248-2A>C (n.*2248-2A>C)
c.1754-2A>C
c.*651-2A>C (n.*651-2A>C)
c.2161-2A>C
c.2182-2A>C (n.2182-2A>C)
c.*1645-2A>C (n.*1645-2A>C)
c.*768-2A>C (n.*768-2A>C)
c.1155-2A>C
c.2059-2A>C (n.2059-2A>C)
c.2170-2A>C (n.2170-2A>C)
c.2224-2A>C (n.2224-2A>C)
n.426-2A>C
c.2113-2A>C (n.2113-2A>C)
n.582+10035T>G
c.1798-2A>C (n.1798-2A>C)
c.1795-2A>C (n.1795-2A>C)
n.2586-2A>C
n.2421-2A>C
n.476-11575T>G
n.600+10035T>G
3g.193658885A>GCA355791721OPA1c.2332-2A>G (n.2332-2A>G)
c.2167-2A>G (n.2167-2A>G)
c.2278-2A>G (n.2278-2A>G)
c.2221-2A>G (n.2221-2A>G)
c.2106-2A>G
c.*392-2A>G (n.*392-2A>G)
c.1849-2A>G (n.1849-2A>G)
c.*2248-2A>G (n.*2248-2A>G)
c.1754-2A>G
c.*651-2A>G (n.*651-2A>G)
c.2161-2A>G
c.2182-2A>G (n.2182-2A>G)
c.*1645-2A>G (n.*1645-2A>G)
c.*768-2A>G (n.*768-2A>G)
c.1155-2A>G
c.2059-2A>G (n.2059-2A>G)
c.2170-2A>G (n.2170-2A>G)
c.2224-2A>G (n.2224-2A>G)
n.426-2A>G
c.2113-2A>G (n.2113-2A>G)
n.582+10035T>C
c.1798-2A>G (n.1798-2A>G)
c.1795-2A>G (n.1795-2A>G)
n.2586-2A>G
n.2421-2A>G
n.476-11575T>C
n.600+10035T>C
 COSMIC
3g.193658885A>TCA355791722OPA1c.2332-2A>T (n.2332-2A>T)
c.2167-2A>T (n.2167-2A>T)
c.2278-2A>T (n.2278-2A>T)
c.2221-2A>T (n.2221-2A>T)
c.2106-2A>T
c.*392-2A>T (n.*392-2A>T)
c.1849-2A>T (n.1849-2A>T)
c.*2248-2A>T (n.*2248-2A>T)
c.1754-2A>T
c.*651-2A>T (n.*651-2A>T)
c.2161-2A>T
c.2182-2A>T (n.2182-2A>T)
c.*1645-2A>T (n.*1645-2A>T)
c.*768-2A>T (n.*768-2A>T)
c.1155-2A>T
c.2059-2A>T (n.2059-2A>T)
c.2170-2A>T (n.2170-2A>T)
c.2224-2A>T (n.2224-2A>T)
n.426-2A>T
c.2113-2A>T (n.2113-2A>T)
n.582+10035T>A
c.1798-2A>T (n.1798-2A>T)
c.1795-2A>T (n.1795-2A>T)
n.2586-2A>T
n.2421-2A>T
n.476-11575T>A
n.600+10035T>A
3g.193658886G>ACA355791723OPA1c.2332-1G>A (n.2332-1G>A)
c.2167-1G>A (n.2167-1G>A)
c.2278-1G>A (n.2278-1G>A)
c.2221-1G>A (n.2221-1G>A)
c.2106-1G>A
c.*392-1G>A (n.*392-1G>A)
c.1849-1G>A (n.1849-1G>A)
c.*2248-1G>A (n.*2248-1G>A)
c.1754-1G>A
c.*651-1G>A (n.*651-1G>A)
c.2161-1G>A
c.2182-1G>A (n.2182-1G>A)
c.*1645-1G>A (n.*1645-1G>A)
c.*768-1G>A (n.*768-1G>A)
c.1155-1G>A
c.2059-1G>A (n.2059-1G>A)
c.2170-1G>A (n.2170-1G>A)
c.2224-1G>A (n.2224-1G>A)
n.426-1G>A
c.2113-1G>A (n.2113-1G>A)
n.582+10034C>T
c.1798-1G>A (n.1798-1G>A)
c.1795-1G>A (n.1795-1G>A)
n.2586-1G>A
n.2421-1G>A
n.476-11576C>T
n.600+10034C>T
3g.193658886G>CCA355791725OPA1c.2332-1G>C (n.2332-1G>C)
c.2167-1G>C (n.2167-1G>C)
c.2278-1G>C (n.2278-1G>C)
c.2221-1G>C (n.2221-1G>C)
c.2106-1G>C
c.*392-1G>C (n.*392-1G>C)
c.1849-1G>C (n.1849-1G>C)
c.*2248-1G>C (n.*2248-1G>C)
c.1754-1G>C
c.*651-1G>C (n.*651-1G>C)
c.2161-1G>C
c.2182-1G>C (n.2182-1G>C)
c.*1645-1G>C (n.*1645-1G>C)
c.*768-1G>C (n.*768-1G>C)
c.1155-1G>C
c.2059-1G>C (n.2059-1G>C)
c.2170-1G>C (n.2170-1G>C)
c.2224-1G>C (n.2224-1G>C)
n.426-1G>C
c.2113-1G>C (n.2113-1G>C)
n.582+10034C>G
c.1798-1G>C (n.1798-1G>C)
c.1795-1G>C (n.1795-1G>C)
n.2586-1G>C
n.2421-1G>C
n.476-11576C>G
n.600+10034C>G
3g.193658886G>TCA355791724OPA1c.2332-1G>T (n.2332-1G>T)
c.2167-1G>T (n.2167-1G>T)
c.2278-1G>T (n.2278-1G>T)
c.2221-1G>T (n.2221-1G>T)
c.2106-1G>T
c.*392-1G>T (n.*392-1G>T)
c.1849-1G>T (n.1849-1G>T)
c.*2248-1G>T (n.*2248-1G>T)
c.1754-1G>T
c.*651-1G>T (n.*651-1G>T)
c.2161-1G>T
c.2182-1G>T (n.2182-1G>T)
c.*1645-1G>T (n.*1645-1G>T)
c.*768-1G>T (n.*768-1G>T)
c.1155-1G>T
c.2059-1G>T (n.2059-1G>T)
c.2170-1G>T (n.2170-1G>T)
c.2224-1G>T (n.2224-1G>T)
n.426-1G>T
c.2113-1G>T (n.2113-1G>T)
n.582+10034C>A
c.1798-1G>T (n.1798-1G>T)
c.1795-1G>T (n.1795-1G>T)
n.2586-1G>T
n.2421-1G>T
n.476-11576C>A
n.600+10034C>A
3g.193658887A=CA1430265007OPA1c.2332A= (p.Arg778=)
c.2167A= (p.Arg723=)
c.2278A= (p.Arg760=)
c.2221A= (p.Arg741=)
c.2106A=
c.*392A= (n.*392A=)
c.1849A= (p.Arg617=)
c.*2248A= (n.*2248A=)
c.1754A=
c.*651A= (n.*651A=)
c.2161A=
c.2182A= (p.Arg728=)
c.*1645A= (n.*1645A=)
c.*768A= (n.*768A=)
c.1155A=
c.2059A= (p.Arg687=)
c.2170A= (p.Arg724=)
c.2224A= (p.Arg742=)
n.426A=
c.2113A= (p.Arg705=)
n.582+10033T=
c.1798A= (p.Arg600=)
c.1795A= (p.Arg599=)
n.2586A=
n.2421A=
n.476-11577T=
n.600+10033T=
3g.193658887A>CCA2759635OPA1c.2332A>C (p.Arg778=)
c.2167A>C (p.Arg723=)
c.2278A>C (p.Arg760=)
c.2221A>C (p.Arg741=)
c.2106A>C
c.*392A>C (n.*392A>C)
c.1849A>C (p.Arg617=)
c.*2248A>C (n.*2248A>C)
c.1754A>C
c.*651A>C (n.*651A>C)
c.2161A>C
c.2182A>C (p.Arg728=)
c.*1645A>C (n.*1645A>C)
c.*768A>C (n.*768A>C)
c.1155A>C
c.2059A>C (p.Arg687=)
c.2170A>C (p.Arg724=)
c.2224A>C (p.Arg742=)
n.426A>C
c.2113A>C (p.Arg705=)
n.582+10033T>G
c.1798A>C (p.Arg600=)
c.1795A>C (p.Arg599=)
n.2586A>C
n.2421A>C
n.476-11577T>G
n.600+10033T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.193658887A>GCA355791726OPA1c.2332A>G (p.Arg778Gly)
c.2167A>G (p.Arg723Gly)
c.2278A>G (p.Arg760Gly)
c.2221A>G (p.Arg741Gly)
c.2106A>G
c.*392A>G (n.*392A>G)
c.1849A>G (p.Arg617Gly)
c.*2248A>G (n.*2248A>G)
c.1754A>G
c.*651A>G (n.*651A>G)
c.2161A>G
c.2182A>G (p.Arg728Gly)
c.*1645A>G (n.*1645A>G)
c.*768A>G (n.*768A>G)
c.1155A>G
c.2059A>G (p.Arg687Gly)
c.2170A>G (p.Arg724Gly)
c.2224A>G (p.Arg742Gly)
n.426A>G
c.2113A>G (p.Arg705Gly)
n.582+10033T>C
c.1798A>G (p.Arg600Gly)
c.1795A>G (p.Arg599Gly)
n.2586A>G
n.2421A>G
n.476-11577T>C
n.600+10033T>C
3g.193658887A>TCA355791727OPA1c.2332A>T (p.Arg778Trp)
c.2167A>T (p.Arg723Trp)
c.2278A>T (p.Arg760Trp)
c.2221A>T (p.Arg741Trp)
c.2106A>T
c.*392A>T (n.*392A>T)
c.1849A>T (p.Arg617Trp)
c.*2248A>T (n.*2248A>T)
c.1754A>T
c.*651A>T (n.*651A>T)
c.2161A>T
c.2182A>T (p.Arg728Trp)
c.*1645A>T (n.*1645A>T)
c.*768A>T (n.*768A>T)
c.1155A>T
c.2059A>T (p.Arg687Trp)
c.2170A>T (p.Arg724Trp)
c.2224A>T (p.Arg742Trp)
n.426A>T
c.2113A>T (p.Arg705Trp)
n.582+10033T>A
c.1798A>T (p.Arg600Trp)
c.1795A>T (p.Arg599Trp)
n.2586A>T
n.2421A>T
n.476-11577T>A
n.600+10033T>A
3g.193658888G>ACA355791728OPA1c.2333G>A (p.Arg778Lys)
c.2168G>A (p.Arg723Lys)
c.2279G>A (p.Arg760Lys)
c.2222G>A (p.Arg741Lys)
c.2107G>A
c.*393G>A (n.*393G>A)
c.1850G>A (p.Arg617Lys)
c.*2249G>A (n.*2249G>A)
c.1755G>A
c.*652G>A (n.*652G>A)
c.2162G>A
c.2183G>A (p.Arg728Lys)
c.*1646G>A (n.*1646G>A)
c.*769G>A (n.*769G>A)
c.1156G>A
c.2060G>A (p.Arg687Lys)
c.2171G>A (p.Arg724Lys)
c.2225G>A (p.Arg742Lys)
n.427G>A
c.2114G>A (p.Arg705Lys)
n.582+10032C>T
c.1799G>A (p.Arg600Lys)
c.1796G>A (p.Arg599Lys)
n.2587G>A
n.2422G>A
n.476-11578C>T
n.600+10032C>T
3g.193658888G>CCA355791729OPA1c.2333G>C (p.Arg778Thr)
c.2168G>C (p.Arg723Thr)
c.2279G>C (p.Arg760Thr)
c.2222G>C (p.Arg741Thr)
c.2107G>C
c.*393G>C (n.*393G>C)
c.1850G>C (p.Arg617Thr)
c.*2249G>C (n.*2249G>C)
c.1755G>C
c.*652G>C (n.*652G>C)
c.2162G>C
c.2183G>C (p.Arg728Thr)
c.*1646G>C (n.*1646G>C)
c.*769G>C (n.*769G>C)
c.1156G>C
c.2060G>C (p.Arg687Thr)
c.2171G>C (p.Arg724Thr)
c.2225G>C (p.Arg742Thr)
n.427G>C
c.2114G>C (p.Arg705Thr)
n.582+10032C>G
c.1799G>C (p.Arg600Thr)
c.1796G>C (p.Arg599Thr)
n.2587G>C
n.2422G>C
n.476-11578C>G
n.600+10032C>G
3g.193658888G>TCA355791730OPA1c.2333G>T (p.Arg778Met)
c.2168G>T (p.Arg723Met)
c.2279G>T (p.Arg760Met)
c.2222G>T (p.Arg741Met)
c.2107G>T
c.*393G>T (n.*393G>T)
c.1850G>T (p.Arg617Met)
c.*2249G>T (n.*2249G>T)
c.1755G>T
c.*652G>T (n.*652G>T)
c.2162G>T
c.2183G>T (p.Arg728Met)
c.*1646G>T (n.*1646G>T)
c.*769G>T (n.*769G>T)
c.1156G>T
c.2060G>T (p.Arg687Met)
c.2171G>T (p.Arg724Met)
c.2225G>T (p.Arg742Met)
n.427G>T
c.2114G>T (p.Arg705Met)
n.582+10032C>A
c.1799G>T (p.Arg600Met)
c.1796G>T (p.Arg599Met)
n.2587G>T
n.2422G>T
n.476-11578C>A
n.600+10032C>A
 gnomAD v4
3g.193658889G>ACA437441074OPA1c.2334G>A (p.Arg778=)
c.2169G>A (p.Arg723=)
c.2280G>A (p.Arg760=)
c.2223G>A (p.Arg741=)
c.2108G>A
c.*394G>A (n.*394G>A)
c.1851G>A (p.Arg617=)
c.*2250G>A (n.*2250G>A)
c.1756G>A
c.*653G>A (n.*653G>A)
c.2163G>A
c.2184G>A (p.Arg728=)
c.*1647G>A (n.*1647G>A)
c.*770G>A (n.*770G>A)
c.1157G>A
c.2061G>A (p.Arg687=)
c.2172G>A (p.Arg724=)
c.2226G>A (p.Arg742=)
n.428G>A
c.2115G>A (p.Arg705=)
n.582+10031C>T
c.1800G>A (p.Arg600=)
c.1797G>A (p.Arg599=)
n.2588G>A
n.2423G>A
n.476-11579C>T
n.600+10031C>T
3g.193658889G>CCA355791731OPA1c.2334G>C (p.Arg778Ser)
c.2169G>C (p.Arg723Ser)
c.2280G>C (p.Arg760Ser)
c.2223G>C (p.Arg741Ser)
c.2108G>C
c.*394G>C (n.*394G>C)
c.1851G>C (p.Arg617Ser)
c.*2250G>C (n.*2250G>C)
c.1756G>C
c.*653G>C (n.*653G>C)
c.2163G>C
c.2184G>C (p.Arg728Ser)
c.*1647G>C (n.*1647G>C)
c.*770G>C (n.*770G>C)
c.1157G>C
c.2061G>C (p.Arg687Ser)
c.2172G>C (p.Arg724Ser)
c.2226G>C (p.Arg742Ser)
n.428G>C
c.2115G>C (p.Arg705Ser)
n.582+10031C>G
c.1800G>C (p.Arg600Ser)
c.1797G>C (p.Arg599Ser)
n.2588G>C
n.2423G>C
n.476-11579C>G
n.600+10031C>G
3g.193658889G>TCA355791732OPA1c.2334G>T (p.Arg778Ser)
c.2169G>T (p.Arg723Ser)
c.2280G>T (p.Arg760Ser)
c.2223G>T (p.Arg741Ser)
c.2108G>T
c.*394G>T (n.*394G>T)
c.1851G>T (p.Arg617Ser)
c.*2250G>T (n.*2250G>T)
c.1756G>T
c.*653G>T (n.*653G>T)
c.2163G>T
c.2184G>T (p.Arg728Ser)
c.*1647G>T (n.*1647G>T)
c.*770G>T (n.*770G>T)
c.1157G>T
c.2061G>T (p.Arg687Ser)
c.2172G>T (p.Arg724Ser)
c.2226G>T (p.Arg742Ser)
n.428G>T
c.2115G>T (p.Arg705Ser)
n.582+10031C>A
c.1800G>T (p.Arg600Ser)
c.1797G>T (p.Arg599Ser)
n.2588G>T
n.2423G>T
n.476-11579C>A
n.600+10031C>A
3g.193658890G>ACA355791733OPA1c.2335G>A (p.Val779Ile)
c.2170G>A (p.Val724Ile)
c.2281G>A (p.Val761Ile)
c.2224G>A (p.Val742Ile)
c.2109G>A
c.*395G>A (n.*395G>A)
c.1852G>A (p.Val618Ile)
c.*2251G>A (n.*2251G>A)
c.1757G>A
c.*654G>A (n.*654G>A)
c.2164G>A
c.2185G>A (p.Val729Ile)
c.*1648G>A (n.*1648G>A)
c.*771G>A (n.*771G>A)
c.1158G>A
c.2062G>A (p.Val688Ile)
c.2173G>A (p.Val725Ile)
c.2227G>A (p.Val743Ile)
n.429G>A
c.2116G>A (p.Val706Ile)
n.582+10030C>T
c.1801G>A (p.Val601Ile)
c.1798G>A (p.Val600Ile)
n.2589G>A
n.2424G>A
n.476-11580C>T
n.600+10030C>T
 gnomAD v4
3g.193658890G>CCA355791734OPA1c.2335G>C (p.Val779Leu)
c.2170G>C (p.Val724Leu)
c.2281G>C (p.Val761Leu)
c.2224G>C (p.Val742Leu)
c.2109G>C
c.*395G>C (n.*395G>C)
c.1852G>C (p.Val618Leu)
c.*2251G>C (n.*2251G>C)
c.1757G>C
c.*654G>C (n.*654G>C)
c.2164G>C
c.2185G>C (p.Val729Leu)
c.*1648G>C (n.*1648G>C)
c.*771G>C (n.*771G>C)
c.1158G>C
c.2062G>C (p.Val688Leu)
c.2173G>C (p.Val725Leu)
c.2227G>C (p.Val743Leu)
n.429G>C
c.2116G>C (p.Val706Leu)
n.582+10030C>G
c.1801G>C (p.Val601Leu)
c.1798G>C (p.Val600Leu)
n.2589G>C
n.2424G>C
n.476-11580C>G
n.600+10030C>G
3g.193658890G>TCA355791735OPA1c.2335G>T (p.Val779Phe)
c.2170G>T (p.Val724Phe)
c.2281G>T (p.Val761Phe)
c.2224G>T (p.Val742Phe)
c.2109G>T
c.*395G>T (n.*395G>T)
c.1852G>T (p.Val618Phe)
c.*2251G>T (n.*2251G>T)
c.1757G>T
c.*654G>T (n.*654G>T)
c.2164G>T
c.2185G>T (p.Val729Phe)
c.*1648G>T (n.*1648G>T)
c.*771G>T (n.*771G>T)
c.1158G>T
c.2062G>T (p.Val688Phe)
c.2173G>T (p.Val725Phe)
c.2227G>T (p.Val743Phe)
n.429G>T
c.2116G>T (p.Val706Phe)
n.582+10030C>A
c.1801G>T (p.Val601Phe)
c.1798G>T (p.Val600Phe)
n.2589G>T
n.2424G>T
n.476-11580C>A
n.600+10030C>A
3g.193658891T>ACA355791737OPA1c.2336T>A (p.Val779Asp)
c.2171T>A (p.Val724Asp)
c.2282T>A (p.Val761Asp)
c.2225T>A (p.Val742Asp)
c.2110T>A
c.*396T>A (n.*396T>A)
c.1853T>A (p.Val618Asp)
c.*2252T>A (n.*2252T>A)
c.1758T>A
c.*655T>A (n.*655T>A)
c.2165T>A
c.2186T>A (p.Val729Asp)
c.*1649T>A (n.*1649T>A)
c.*772T>A (n.*772T>A)
c.1159T>A
c.2063T>A (p.Val688Asp)
c.2174T>A (p.Val725Asp)
c.2228T>A (p.Val743Asp)
n.430T>A
c.2117T>A (p.Val706Asp)
n.582+10029A>T
c.1802T>A (p.Val601Asp)
c.1799T>A (p.Val600Asp)
n.2590T>A
n.2425T>A
n.476-11581A>T
n.600+10029A>T
3g.193658891T>CCA355791738OPA1c.2336T>C (p.Val779Ala)
c.2171T>C (p.Val724Ala)
c.2282T>C (p.Val761Ala)
c.2225T>C (p.Val742Ala)
c.2110T>C
c.*396T>C (n.*396T>C)
c.1853T>C (p.Val618Ala)
c.*2252T>C (n.*2252T>C)
c.1758T>C
c.*655T>C (n.*655T>C)
c.2165T>C
c.2186T>C (p.Val729Ala)
c.*1649T>C (n.*1649T>C)
c.*772T>C (n.*772T>C)
c.1159T>C
c.2063T>C (p.Val688Ala)
c.2174T>C (p.Val725Ala)
c.2228T>C (p.Val743Ala)
n.430T>C
c.2117T>C (p.Val706Ala)
n.582+10029A>G
c.1802T>C (p.Val601Ala)
c.1799T>C (p.Val600Ala)
n.2590T>C
n.2425T>C
n.476-11581A>G
n.600+10029A>G
 gnomAD v4
3g.193658891T>GCA355791736OPA1c.2336T>G (p.Val779Gly)
c.2171T>G (p.Val724Gly)
c.2282T>G (p.Val761Gly)
c.2225T>G (p.Val742Gly)
c.2110T>G
c.*396T>G (n.*396T>G)
c.1853T>G (p.Val618Gly)
c.*2252T>G (n.*2252T>G)
c.1758T>G
c.*655T>G (n.*655T>G)
c.2165T>G
c.2186T>G (p.Val729Gly)
c.*1649T>G (n.*1649T>G)
c.*772T>G (n.*772T>G)
c.1159T>G
c.2063T>G (p.Val688Gly)
c.2174T>G (p.Val725Gly)
c.2228T>G (p.Val743Gly)
n.430T>G
c.2117T>G (p.Val706Gly)
n.582+10029A>C
c.1802T>G (p.Val601Gly)
c.1799T>G (p.Val600Gly)
n.2590T>G
n.2425T>G
n.476-11581A>C
n.600+10029A>C
3g.193658892T>ACA437441083OPA1c.2337T>A (p.Val779=)
c.2172T>A (p.Val724=)
c.2283T>A (p.Val761=)
c.2226T>A (p.Val742=)
c.2111T>A
c.*397T>A (n.*397T>A)
c.1854T>A (p.Val618=)
c.*2253T>A (n.*2253T>A)
c.1759T>A
c.*656T>A (n.*656T>A)
c.2166T>A
c.2187T>A (p.Val729=)
c.*1650T>A (n.*1650T>A)
c.*773T>A (n.*773T>A)
c.1160T>A
c.2064T>A (p.Val688=)
c.2175T>A (p.Val725=)
c.2229T>A (p.Val743=)
n.431T>A
c.2118T>A (p.Val706=)
n.582+10028A>T
c.1803T>A (p.Val601=)
c.1800T>A (p.Val600=)
n.2591T>A
n.2426T>A
n.476-11582A>T
n.600+10028A>T
3g.193658892T>CCA437441087OPA1c.2337T>C (p.Val779=)
c.2172T>C (p.Val724=)
c.2283T>C (p.Val761=)
c.2226T>C (p.Val742=)
c.2111T>C
c.*397T>C (n.*397T>C)
c.1854T>C (p.Val618=)
c.*2253T>C (n.*2253T>C)
c.1759T>C
c.*656T>C (n.*656T>C)
c.2166T>C
c.2187T>C (p.Val729=)
c.*1650T>C (n.*1650T>C)
c.*773T>C (n.*773T>C)
c.1160T>C
c.2064T>C (p.Val688=)
c.2175T>C (p.Val725=)
c.2229T>C (p.Val743=)
n.431T>C
c.2118T>C (p.Val706=)
n.582+10028A>G
c.1803T>C (p.Val601=)
c.1800T>C (p.Val600=)
n.2591T>C
n.2426T>C
n.476-11582A>G
n.600+10028A>G
3g.193658892T>GCA437441085OPA1c.2337T>G (p.Val779=)
c.2172T>G (p.Val724=)
c.2283T>G (p.Val761=)
c.2226T>G (p.Val742=)
c.2111T>G
c.*397T>G (n.*397T>G)
c.1854T>G (p.Val618=)
c.*2253T>G (n.*2253T>G)
c.1759T>G
c.*656T>G (n.*656T>G)
c.2166T>G
c.2187T>G (p.Val729=)
c.*1650T>G (n.*1650T>G)
c.*773T>G (n.*773T>G)
c.1160T>G
c.2064T>G (p.Val688=)
c.2175T>G (p.Val725=)
c.2229T>G (p.Val743=)
n.431T>G
c.2118T>G (p.Val706=)
n.582+10028A>C
c.1803T>G (p.Val601=)
c.1800T>G (p.Val600=)
n.2591T>G
n.2426T>G
n.476-11582A>C
n.600+10028A>C
3g.193658893_193658894delCA2586973374OPA1c.2338_2339del (p.Ile780SerfsTer12)
c.2173_2174del (p.Ile725SerfsTer12)
c.2284_2285del (p.Ile762SerfsTer12)
c.2227_2228del (p.Ile743SerfsTer12)
c.2112_2113del
c.*398_*399del (n.*398_*399del)
c.1855_1856del (p.Ile619SerfsTer12)
c.*2254_*2255del (n.*2254_*2255del)
c.1760_1761del
c.*657_*658del (n.*657_*658del)
c.2167_2168del
c.2188_2189del (p.Ile730SerfsTer12)
c.*1651_*1652del (n.*1651_*1652del)
c.*774_*775del (n.*774_*775del)
c.1161_1162del
c.2065_2066del (p.Ile689SerfsTer12)
c.2176_2177del (p.Ile726SerfsTer12)
c.2230_2231del (p.Ile744SerfsTer12)
n.432_433del
c.2119_2120del (p.Ile707SerfsTer12)
n.582+10027_582+10028del
c.1804_1805del (p.Ile602SerfsTer12)
c.1801_1802del (p.Ile601SerfsTer12)
n.2592_2593del
n.2427_2428del
n.476-11583_476-11582del
n.600+10027_600+10028del
3g.193658893A=CA1430265011OPA1c.2338A= (p.Ile780=)
c.2173A= (p.Ile725=)
c.2284A= (p.Ile762=)
c.2227A= (p.Ile743=)
c.2112A=
c.*398A= (n.*398A=)
c.1855A= (p.Ile619=)
c.*2254A= (n.*2254A=)
c.1760A=
c.*657A= (n.*657A=)
c.2167A=
c.2188A= (p.Ile730=)
c.*1651A= (n.*1651A=)
c.*774A= (n.*774A=)
c.1161A=
c.2065A= (p.Ile689=)
c.2176A= (p.Ile726=)
c.2230A= (p.Ile744=)
n.432A=
c.2119A= (p.Ile707=)
n.582+10027T=
c.1804A= (p.Ile602=)
c.1801A= (p.Ile601=)
n.2592A=
n.2427A=
n.476-11583T=
n.600+10027T=
3g.193658893A>CCA355791740OPA1c.2338A>C (p.Ile780Leu)
c.2173A>C (p.Ile725Leu)
c.2284A>C (p.Ile762Leu)
c.2227A>C (p.Ile743Leu)
c.2112A>C
c.*398A>C (n.*398A>C)
c.1855A>C (p.Ile619Leu)
c.*2254A>C (n.*2254A>C)
c.1760A>C
c.*657A>C (n.*657A>C)
c.2167A>C
c.2188A>C (p.Ile730Leu)
c.*1651A>C (n.*1651A>C)
c.*774A>C (n.*774A>C)
c.1161A>C
c.2065A>C (p.Ile689Leu)
c.2176A>C (p.Ile726Leu)
c.2230A>C (p.Ile744Leu)
n.432A>C
c.2119A>C (p.Ile707Leu)
n.582+10027T>G
c.1804A>C (p.Ile602Leu)
c.1801A>C (p.Ile601Leu)
n.2592A>C
n.2427A>C
n.476-11583T>G
n.600+10027T>G
3g.193658893A>GCA2759636OPA1c.2338A>G (p.Ile780Val)
c.2173A>G (p.Ile725Val)
c.2284A>G (p.Ile762Val)
c.2227A>G (p.Ile743Val)
c.2112A>G
c.*398A>G (n.*398A>G)
c.1855A>G (p.Ile619Val)
c.*2254A>G (n.*2254A>G)
c.1760A>G
c.*657A>G (n.*657A>G)
c.2167A>G
c.2188A>G (p.Ile730Val)
c.*1651A>G (n.*1651A>G)
c.*774A>G (n.*774A>G)
c.1161A>G
c.2065A>G (p.Ile689Val)
c.2176A>G (p.Ile726Val)
c.2230A>G (p.Ile744Val)
n.432A>G
c.2119A>G (p.Ile707Val)
n.582+10027T>C
c.1804A>G (p.Ile602Val)
c.1801A>G (p.Ile601Val)
n.2592A>G
n.2427A>G
n.476-11583T>C
n.600+10027T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.193658893A>TCA355791739OPA1c.2338A>T (p.Ile780Phe)
c.2173A>T (p.Ile725Phe)
c.2284A>T (p.Ile762Phe)
c.2227A>T (p.Ile743Phe)
c.2112A>T
c.*398A>T (n.*398A>T)
c.1855A>T (p.Ile619Phe)
c.*2254A>T (n.*2254A>T)
c.1760A>T
c.*657A>T (n.*657A>T)
c.2167A>T
c.2188A>T (p.Ile730Phe)
c.*1651A>T (n.*1651A>T)
c.*774A>T (n.*774A>T)
c.1161A>T
c.2065A>T (p.Ile689Phe)
c.2176A>T (p.Ile726Phe)
c.2230A>T (p.Ile744Phe)
n.432A>T
c.2119A>T (p.Ile707Phe)
n.582+10027T>A
c.1804A>T (p.Ile602Phe)
c.1801A>T (p.Ile601Phe)
n.2592A>T
n.2427A>T
n.476-11583T>A
n.600+10027T>A
3g.193658894T>ACA355791741OPA1c.2339T>A (p.Ile780Asn)
c.2174T>A (p.Ile725Asn)
c.2285T>A (p.Ile762Asn)
c.2228T>A (p.Ile743Asn)
c.2113T>A
c.*399T>A (n.*399T>A)
c.1856T>A (p.Ile619Asn)
c.*2255T>A (n.*2255T>A)
c.1761T>A
c.*658T>A (n.*658T>A)
c.2168T>A
c.2189T>A (p.Ile730Asn)
c.*1652T>A (n.*1652T>A)
c.*775T>A (n.*775T>A)
c.1162T>A
c.2066T>A (p.Ile689Asn)
c.2177T>A (p.Ile726Asn)
c.2231T>A (p.Ile744Asn)
n.433T>A
c.2120T>A (p.Ile707Asn)
n.582+10026A>T
c.1805T>A (p.Ile602Asn)
c.1802T>A (p.Ile601Asn)
n.2593T>A
n.2428T>A
n.476-11584A>T
n.600+10026A>T
3g.193658894T>CCA355791742OPA1c.2339T>C (p.Ile780Thr)
c.2174T>C (p.Ile725Thr)
c.2285T>C (p.Ile762Thr)
c.2228T>C (p.Ile743Thr)
c.2113T>C
c.*399T>C (n.*399T>C)
c.1856T>C (p.Ile619Thr)
c.*2255T>C (n.*2255T>C)
c.1761T>C
c.*658T>C (n.*658T>C)
c.2168T>C
c.2189T>C (p.Ile730Thr)
c.*1652T>C (n.*1652T>C)
c.*775T>C (n.*775T>C)
c.1162T>C
c.2066T>C (p.Ile689Thr)
c.2177T>C (p.Ile726Thr)
c.2231T>C (p.Ile744Thr)
n.433T>C
c.2120T>C (p.Ile707Thr)
n.582+10026A>G
c.1805T>C (p.Ile602Thr)
c.1802T>C (p.Ile601Thr)
n.2593T>C
n.2428T>C
n.476-11584A>G
n.600+10026A>G
3g.193658894T>GCA355791743OPA1c.2339T>G (p.Ile780Ser)
c.2174T>G (p.Ile725Ser)
c.2285T>G (p.Ile762Ser)
c.2228T>G (p.Ile743Ser)
c.2113T>G
c.*399T>G (n.*399T>G)
c.1856T>G (p.Ile619Ser)
c.*2255T>G (n.*2255T>G)
c.1761T>G
c.*658T>G (n.*658T>G)
c.2168T>G
c.2189T>G (p.Ile730Ser)
c.*1652T>G (n.*1652T>G)
c.*775T>G (n.*775T>G)
c.1162T>G
c.2066T>G (p.Ile689Ser)
c.2177T>G (p.Ile726Ser)
c.2231T>G (p.Ile744Ser)
n.433T>G
c.2120T>G (p.Ile707Ser)
n.582+10026A>C
c.1805T>G (p.Ile602Ser)
c.1802T>G (p.Ile601Ser)
n.2593T>G
n.2428T>G
n.476-11584A>C
n.600+10026A>C
3g.193658895T>ACA437441095OPA1c.2340T>A (p.Ile780=)
c.2175T>A (p.Ile725=)
c.2286T>A (p.Ile762=)
c.2229T>A (p.Ile743=)
c.2114T>A
c.*400T>A (n.*400T>A)
c.1857T>A (p.Ile619=)
c.*2256T>A (n.*2256T>A)
c.1762T>A
c.*659T>A (n.*659T>A)
c.2169T>A
c.2190T>A (p.Ile730=)
c.*1653T>A (n.*1653T>A)
c.*776T>A (n.*776T>A)
c.1163T>A
c.2067T>A (p.Ile689=)
c.2178T>A (p.Ile726=)
c.2232T>A (p.Ile744=)
n.434T>A
c.2121T>A (p.Ile707=)
n.582+10025A>T
c.1806T>A (p.Ile602=)
c.1803T>A (p.Ile601=)
n.2594T>A
n.2429T>A
n.476-11585A>T
n.600+10025A>T
3g.193658895T>CCA437441097OPA1c.2340T>C (p.Ile780=)
c.2175T>C (p.Ile725=)
c.2286T>C (p.Ile762=)
c.2229T>C (p.Ile743=)
c.2114T>C
c.*400T>C (n.*400T>C)
c.1857T>C (p.Ile619=)
c.*2256T>C (n.*2256T>C)
c.1762T>C
c.*659T>C (n.*659T>C)
c.2169T>C
c.2190T>C (p.Ile730=)
c.*1653T>C (n.*1653T>C)
c.*776T>C (n.*776T>C)
c.1163T>C
c.2067T>C (p.Ile689=)
c.2178T>C (p.Ile726=)
c.2232T>C (p.Ile744=)
n.434T>C
c.2121T>C (p.Ile707=)
n.582+10025A>G
c.1806T>C (p.Ile602=)
c.1803T>C (p.Ile601=)
n.2594T>C
n.2429T>C
n.476-11585A>G
n.600+10025A>G
3g.193658895T>GCA355791744OPA1c.2340T>G (p.Ile780Met)
c.2175T>G (p.Ile725Met)
c.2286T>G (p.Ile762Met)
c.2229T>G (p.Ile743Met)
c.2114T>G
c.*400T>G (n.*400T>G)
c.1857T>G (p.Ile619Met)
c.*2256T>G (n.*2256T>G)
c.1762T>G
c.*659T>G (n.*659T>G)
c.2169T>G
c.2190T>G (p.Ile730Met)
c.*1653T>G (n.*1653T>G)
c.*776T>G (n.*776T>G)
c.1163T>G
c.2067T>G (p.Ile689Met)
c.2178T>G (p.Ile726Met)
c.2232T>G (p.Ile744Met)
n.434T>G
c.2121T>G (p.Ile707Met)
n.582+10025A>C
c.1806T>G (p.Ile602Met)
c.1803T>G (p.Ile601Met)
n.2594T>G
n.2429T>G
n.476-11585A>C
n.600+10025A>C
3g.193658896C>ACA355791747OPA1c.2341C>A (p.Gln781Lys)
c.2176C>A (p.Gln726Lys)
c.2287C>A (p.Gln763Lys)
c.2230C>A (p.Gln744Lys)
c.2115C>A
c.*401C>A (n.*401C>A)
c.1858C>A (p.Gln620Lys)
c.*2257C>A (n.*2257C>A)
c.1763C>A
c.*660C>A (n.*660C>A)
c.2170C>A
c.2191C>A (p.Gln731Lys)
c.*1654C>A (n.*1654C>A)
c.*777C>A (n.*777C>A)
c.1164C>A
c.2068C>A (p.Gln690Lys)
c.2179C>A (p.Gln727Lys)
c.2233C>A (p.Gln745Lys)
n.435C>A
c.2122C>A (p.Gln708Lys)
n.582+10024G>T
c.1807C>A (p.Gln603Lys)
c.1804C>A (p.Gln602Lys)
n.2595C>A
n.2430C>A
n.476-11586G>T
n.600+10024G>T
3g.193658896C>GCA355791745OPA1c.2341C>G (p.Gln781Glu)
c.2176C>G (p.Gln726Glu)
c.2287C>G (p.Gln763Glu)
c.2230C>G (p.Gln744Glu)
c.2115C>G
c.*401C>G (n.*401C>G)
c.1858C>G (p.Gln620Glu)
c.*2257C>G (n.*2257C>G)
c.1763C>G
c.*660C>G (n.*660C>G)
c.2170C>G
c.2191C>G (p.Gln731Glu)
c.*1654C>G (n.*1654C>G)
c.*777C>G (n.*777C>G)
c.1164C>G
c.2068C>G (p.Gln690Glu)
c.2179C>G (p.Gln727Glu)
c.2233C>G (p.Gln745Glu)
n.435C>G
c.2122C>G (p.Gln708Glu)
n.582+10024G>C
c.1807C>G (p.Gln603Glu)
c.1804C>G (p.Gln602Glu)
n.2595C>G
n.2430C>G
n.476-11586G>C
n.600+10024G>C
3g.193658896C>TCA355791746OPA1c.2341C>T (p.Gln781Ter)
c.2176C>T (p.Gln726Ter)
c.2287C>T (p.Gln763Ter)
c.2230C>T (p.Gln744Ter)
c.2115C>T
c.*401C>T (n.*401C>T)
c.1858C>T (p.Gln620Ter)
c.*2257C>T (n.*2257C>T)
c.1763C>T
c.*660C>T (n.*660C>T)
c.2170C>T
c.2191C>T (p.Gln731Ter)
c.*1654C>T (n.*1654C>T)
c.*777C>T (n.*777C>T)
c.1164C>T
c.2068C>T (p.Gln690Ter)
c.2179C>T (p.Gln727Ter)
c.2233C>T (p.Gln745Ter)
n.435C>T
c.2122C>T (p.Gln708Ter)
n.582+10024G>A
c.1807C>T (p.Gln603Ter)
c.1804C>T (p.Gln602Ter)
n.2595C>T
n.2430C>T
n.476-11586G>A
n.600+10024G>A
3g.193658897A>CCA355791748OPA1c.2342A>C (p.Gln781Pro)
c.2177A>C (p.Gln726Pro)
c.2288A>C (p.Gln763Pro)
c.2231A>C (p.Gln744Pro)
c.2116A>C
c.*402A>C (n.*402A>C)
c.1859A>C (p.Gln620Pro)
c.*2258A>C (n.*2258A>C)
c.1764A>C
c.*661A>C (n.*661A>C)
c.2171A>C
c.2192A>C (p.Gln731Pro)
c.*1655A>C (n.*1655A>C)
c.*778A>C (n.*778A>C)
c.1165A>C
c.2069A>C (p.Gln690Pro)
c.2180A>C (p.Gln727Pro)
c.2234A>C (p.Gln745Pro)
n.436A>C
c.2123A>C (p.Gln708Pro)
n.582+10023T>G
c.1808A>C (p.Gln603Pro)
c.1805A>C (p.Gln602Pro)
n.2596A>C
n.2431A>C
n.476-11587T>G
n.600+10023T>G
3g.193658897A>GCA355791749OPA1c.2342A>G (p.Gln781Arg)
c.2177A>G (p.Gln726Arg)
c.2288A>G (p.Gln763Arg)
c.2231A>G (p.Gln744Arg)
c.2116A>G
c.*402A>G (n.*402A>G)
c.1859A>G (p.Gln620Arg)
c.*2258A>G (n.*2258A>G)
c.1764A>G
c.*661A>G (n.*661A>G)
c.2171A>G
c.2192A>G (p.Gln731Arg)
c.*1655A>G (n.*1655A>G)
c.*778A>G (n.*778A>G)
c.1165A>G
c.2069A>G (p.Gln690Arg)
c.2180A>G (p.Gln727Arg)
c.2234A>G (p.Gln745Arg)
n.436A>G
c.2123A>G (p.Gln708Arg)
n.582+10023T>C
c.1808A>G (p.Gln603Arg)
c.1805A>G (p.Gln602Arg)
n.2596A>G
n.2431A>G
n.476-11587T>C
n.600+10023T>C
3g.193658897A>TCA355791750OPA1c.2342A>T (p.Gln781Leu)
c.2177A>T (p.Gln726Leu)
c.2288A>T (p.Gln763Leu)
c.2231A>T (p.Gln744Leu)
c.2116A>T
c.*402A>T (n.*402A>T)
c.1859A>T (p.Gln620Leu)
c.*2258A>T (n.*2258A>T)
c.1764A>T
c.*661A>T (n.*661A>T)
c.2171A>T
c.2192A>T (p.Gln731Leu)
c.*1655A>T (n.*1655A>T)
c.*778A>T (n.*778A>T)
c.1165A>T
c.2069A>T (p.Gln690Leu)
c.2180A>T (p.Gln727Leu)
c.2234A>T (p.Gln745Leu)
n.436A>T
c.2123A>T (p.Gln708Leu)
n.582+10023T>A
c.1808A>T (p.Gln603Leu)
c.1805A>T (p.Gln602Leu)
n.2596A>T
n.2431A>T
n.476-11587T>A
n.600+10023T>A
3g.193658898A>CCA355791751OPA1c.2343A>C (p.Gln781His)
c.2178A>C (p.Gln726His)
c.2289A>C (p.Gln763His)
c.2232A>C (p.Gln744His)
c.2117A>C
c.*403A>C (n.*403A>C)
c.1860A>C (p.Gln620His)
c.*2259A>C (n.*2259A>C)
c.1765A>C
c.*662A>C (n.*662A>C)
c.2172A>C
c.2193A>C (p.Gln731His)
c.*1656A>C (n.*1656A>C)
c.*779A>C (n.*779A>C)
c.1166A>C
c.2070A>C (p.Gln690His)
c.2181A>C (p.Gln727His)
c.2235A>C (p.Gln745His)
n.437A>C
c.2124A>C (p.Gln708His)
n.582+10022T>G
c.1809A>C (p.Gln603His)
c.1806A>C (p.Gln602His)
n.2597A>C
n.2432A>C
n.476-11588T>G
n.600+10022T>G
3g.193658898A>GCA437441108OPA1c.2343A>G (p.Gln781=)
c.2178A>G (p.Gln726=)
c.2289A>G (p.Gln763=)
c.2232A>G (p.Gln744=)
c.2117A>G
c.*403A>G (n.*403A>G)
c.1860A>G (p.Gln620=)
c.*2259A>G (n.*2259A>G)
c.1765A>G
c.*662A>G (n.*662A>G)
c.2172A>G
c.2193A>G (p.Gln731=)
c.*1656A>G (n.*1656A>G)
c.*779A>G (n.*779A>G)
c.1166A>G
c.2070A>G (p.Gln690=)
c.2181A>G (p.Gln727=)
c.2235A>G (p.Gln745=)
n.437A>G
c.2124A>G (p.Gln708=)
n.582+10022T>C
c.1809A>G (p.Gln603=)
c.1806A>G (p.Gln602=)
n.2597A>G
n.2432A>G
n.476-11588T>C
n.600+10022T>C
 gnomAD v4
3g.193658898A>TCA355791752OPA1c.2343A>T (p.Gln781His)
c.2178A>T (p.Gln726His)
c.2289A>T (p.Gln763His)
c.2232A>T (p.Gln744His)
c.2117A>T
c.*403A>T (n.*403A>T)
c.1860A>T (p.Gln620His)
c.*2259A>T (n.*2259A>T)
c.1765A>T
c.*662A>T (n.*662A>T)
c.2172A>T
c.2193A>T (p.Gln731His)
c.*1656A>T (n.*1656A>T)
c.*779A>T (n.*779A>T)
c.1166A>T
c.2070A>T (p.Gln690His)
c.2181A>T (p.Gln727His)
c.2235A>T (p.Gln745His)
n.437A>T
c.2124A>T (p.Gln708His)
n.582+10022T>A
c.1809A>T (p.Gln603His)
c.1806A>T (p.Gln602His)
n.2597A>T
n.2432A>T
n.476-11588T>A
n.600+10022T>A
3g.193658899C>ACA355791753OPA1c.2344C>A (p.His782Asn)
c.2179C>A (p.His727Asn)
c.2290C>A (p.His764Asn)
c.2233C>A (p.His745Asn)
c.2118C>A
c.*404C>A (n.*404C>A)
c.1861C>A (p.His621Asn)
c.*2260C>A (n.*2260C>A)
c.1766C>A
c.*663C>A (n.*663C>A)
c.2173C>A
c.2194C>A (p.His732Asn)
c.*1657C>A (n.*1657C>A)
c.*780C>A (n.*780C>A)
c.1167C>A
c.2071C>A (p.His691Asn)
c.2182C>A (p.His728Asn)
c.2236C>A (p.His746Asn)
n.438C>A
c.2125C>A (p.His709Asn)
n.582+10021G>T
c.1810C>A (p.His604Asn)
c.1807C>A (p.His603Asn)
n.2598C>A
n.2433C>A
n.476-11589G>T
n.600+10021G>T
3g.193658899C>GCA355791755OPA1c.2344C>G (p.His782Asp)
c.2179C>G (p.His727Asp)
c.2290C>G (p.His764Asp)
c.2233C>G (p.His745Asp)
c.2118C>G
c.*404C>G (n.*404C>G)
c.1861C>G (p.His621Asp)
c.*2260C>G (n.*2260C>G)
c.1766C>G
c.*663C>G (n.*663C>G)
c.2173C>G
c.2194C>G (p.His732Asp)
c.*1657C>G (n.*1657C>G)
c.*780C>G (n.*780C>G)
c.1167C>G
c.2071C>G (p.His691Asp)
c.2182C>G (p.His728Asp)
c.2236C>G (p.His746Asp)
n.438C>G
c.2125C>G (p.His709Asp)
n.582+10021G>C
c.1810C>G (p.His604Asp)
c.1807C>G (p.His603Asp)
n.2598C>G
n.2433C>G
n.476-11589G>C
n.600+10021G>C
3g.193658899C>TCA355791754OPA1c.2344C>T (p.His782Tyr)
c.2179C>T (p.His727Tyr)
c.2290C>T (p.His764Tyr)
c.2233C>T (p.His745Tyr)
c.2118C>T
c.*404C>T (n.*404C>T)
c.1861C>T (p.His621Tyr)
c.*2260C>T (n.*2260C>T)
c.1766C>T
c.*663C>T (n.*663C>T)
c.2173C>T
c.2194C>T (p.His732Tyr)
c.*1657C>T (n.*1657C>T)
c.*780C>T (n.*780C>T)
c.1167C>T
c.2071C>T (p.His691Tyr)
c.2182C>T (p.His728Tyr)
c.2236C>T (p.His746Tyr)
n.438C>T
c.2125C>T (p.His709Tyr)
n.582+10021G>A
c.1810C>T (p.His604Tyr)
c.1807C>T (p.His603Tyr)
n.2598C>T
n.2433C>T
n.476-11589G>A
n.600+10021G>A
3g.193658900A>CCA355791756OPA1c.2345A>C (p.His782Pro)
c.2180A>C (p.His727Pro)
c.2291A>C (p.His764Pro)
c.2234A>C (p.His745Pro)
c.2119A>C
c.*405A>C (n.*405A>C)
c.1862A>C (p.His621Pro)
c.*2261A>C (n.*2261A>C)
c.1767A>C
c.*664A>C (n.*664A>C)
c.2174A>C
c.2195A>C (p.His732Pro)
c.*1658A>C (n.*1658A>C)
c.*781A>C (n.*781A>C)
c.1168A>C
c.2072A>C (p.His691Pro)
c.2183A>C (p.His728Pro)
c.2237A>C (p.His746Pro)
n.439A>C
c.2126A>C (p.His709Pro)
n.582+10020T>G
c.1811A>C (p.His604Pro)
c.1808A>C (p.His603Pro)
n.2599A>C
n.2434A>C
n.476-11590T>G
n.600+10020T>G
3g.193658900A>GCA355791757OPA1c.2345A>G (p.His782Arg)
c.2180A>G (p.His727Arg)
c.2291A>G (p.His764Arg)
c.2234A>G (p.His745Arg)
c.2119A>G
c.*405A>G (n.*405A>G)
c.1862A>G (p.His621Arg)
c.*2261A>G (n.*2261A>G)
c.1767A>G
c.*664A>G (n.*664A>G)
c.2174A>G
c.2195A>G (p.His732Arg)
c.*1658A>G (n.*1658A>G)
c.*781A>G (n.*781A>G)
c.1168A>G
c.2072A>G (p.His691Arg)
c.2183A>G (p.His728Arg)
c.2237A>G (p.His746Arg)
n.439A>G
c.2126A>G (p.His709Arg)
n.582+10020T>C
c.1811A>G (p.His604Arg)
c.1808A>G (p.His603Arg)
n.2599A>G
n.2434A>G
n.476-11590T>C
n.600+10020T>C
3g.193658900A>TCA355791758OPA1c.2345A>T (p.His782Leu)
c.2180A>T (p.His727Leu)
c.2291A>T (p.His764Leu)
c.2234A>T (p.His745Leu)
c.2119A>T
c.*405A>T (n.*405A>T)
c.1862A>T (p.His621Leu)
c.*2261A>T (n.*2261A>T)
c.1767A>T
c.*664A>T (n.*664A>T)
c.2174A>T
c.2195A>T (p.His732Leu)
c.*1658A>T (n.*1658A>T)
c.*781A>T (n.*781A>T)
c.1168A>T
c.2072A>T (p.His691Leu)
c.2183A>T (p.His728Leu)
c.2237A>T (p.His746Leu)
n.439A>T
c.2126A>T (p.His709Leu)
n.582+10020T>A
c.1811A>T (p.His604Leu)
c.1808A>T (p.His603Leu)
n.2599A>T
n.2434A>T
n.476-11590T>A
n.600+10020T>A
3g.193658901C>ACA355791759OPA1c.2346C>A (p.His782Gln)
c.2181C>A (p.His727Gln)
c.2292C>A (p.His764Gln)
c.2235C>A (p.His745Gln)
c.2120C>A
c.*406C>A (n.*406C>A)
c.1863C>A (p.His621Gln)
c.*2262C>A (n.*2262C>A)
c.1768C>A
c.*665C>A (n.*665C>A)
c.2175C>A
c.2196C>A (p.His732Gln)
c.*1659C>A (n.*1659C>A)
c.*782C>A (n.*782C>A)
c.1169C>A
c.2073C>A (p.His691Gln)
c.2184C>A (p.His728Gln)
c.2238C>A (p.His746Gln)
n.440C>A
c.2127C>A (p.His709Gln)
n.582+10019G>T
c.1812C>A (p.His604Gln)
c.1809C>A (p.His603Gln)
n.2600C>A
n.2435C>A
n.476-11591G>T
n.600+10019G>T
 gnomAD v4
3g.193658901C=CA1430265016OPA1c.2346C= (p.His782=)
c.2181C= (p.His727=)
c.2292C= (p.His764=)
c.2235C= (p.His745=)
c.2120C=
c.*406C= (n.*406C=)
c.1863C= (p.His621=)
c.*2262C= (n.*2262C=)
c.1768C=
c.*665C= (n.*665C=)
c.2175C=
c.2196C= (p.His732=)
c.*1659C= (n.*1659C=)
c.*782C= (n.*782C=)
c.1169C=
c.2073C= (p.His691=)
c.2184C= (p.His728=)
c.2238C= (p.His746=)
n.440C=
c.2127C= (p.His709=)
n.582+10019G=
c.1812C= (p.His604=)
c.1809C= (p.His603=)
n.2600C=
n.2435C=
n.476-11591G=
n.600+10019G=
3g.193658901C>GCA355791760OPA1c.2346C>G (p.His782Gln)
c.2181C>G (p.His727Gln)
c.2292C>G (p.His764Gln)
c.2235C>G (p.His745Gln)
c.2120C>G
c.*406C>G (n.*406C>G)
c.1863C>G (p.His621Gln)
c.*2262C>G (n.*2262C>G)
c.1768C>G
c.*665C>G (n.*665C>G)
c.2175C>G
c.2196C>G (p.His732Gln)
c.*1659C>G (n.*1659C>G)
c.*782C>G (n.*782C>G)
c.1169C>G
c.2073C>G (p.His691Gln)
c.2184C>G (p.His728Gln)
c.2238C>G (p.His746Gln)
n.440C>G
c.2127C>G (p.His709Gln)
n.582+10019G>C
c.1812C>G (p.His604Gln)
c.1809C>G (p.His603Gln)
n.2600C>G
n.2435C>G
n.476-11591G>C
n.600+10019G>C
 gnomAD v4
3g.193658901C>TCA2759637OPA1c.2346C>T (p.His782=)
c.2181C>T (p.His727=)
c.2292C>T (p.His764=)
c.2235C>T (p.His745=)
c.2120C>T
c.*406C>T (n.*406C>T)
c.1863C>T (p.His621=)
c.*2262C>T (n.*2262C>T)
c.1768C>T
c.*665C>T (n.*665C>T)
c.2175C>T
c.2196C>T (p.His732=)
c.*1659C>T (n.*1659C>T)
c.*782C>T (n.*782C>T)
c.1169C>T
c.2073C>T (p.His691=)
c.2184C>T (p.His728=)
c.2238C>T (p.His746=)
n.440C>T
c.2127C>T (p.His709=)
n.582+10019G>A
c.1812C>T (p.His604=)
c.1809C>T (p.His603=)
n.2600C>T
n.2435C>T
n.476-11591G>A
n.600+10019G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.193658902A>CCA355791761OPA1c.2347A>C (p.Asn783His)
c.2182A>C (p.Asn728His)
c.2293A>C (p.Asn765His)
c.2236A>C (p.Asn746His)
c.2121A>C
c.*407A>C (n.*407A>C)
c.1864A>C (p.Asn622His)
c.*2263A>C (n.*2263A>C)
c.1769A>C
c.*666A>C (n.*666A>C)
c.2176A>C
c.2197A>C (p.Asn733His)
c.*1660A>C (n.*1660A>C)
c.*783A>C (n.*783A>C)
c.1170A>C
c.2074A>C (p.Asn692His)
c.2185A>C (p.Asn729His)
c.2239A>C (p.Asn747His)
n.441A>C
c.2128A>C (p.Asn710His)
n.582+10018T>G
c.1813A>C (p.Asn605His)
c.1810A>C (p.Asn604His)
n.2601A>C
n.2436A>C
n.476-11592T>G
n.600+10018T>G
3g.193658902A>GCA355791762OPA1c.2347A>G (p.Asn783Asp)
c.2182A>G (p.Asn728Asp)
c.2293A>G (p.Asn765Asp)
c.2236A>G (p.Asn746Asp)
c.2121A>G
c.*407A>G (n.*407A>G)
c.1864A>G (p.Asn622Asp)
c.*2263A>G (n.*2263A>G)
c.1769A>G
c.*666A>G (n.*666A>G)
c.2176A>G
c.2197A>G (p.Asn733Asp)
c.*1660A>G (n.*1660A>G)
c.*783A>G (n.*783A>G)
c.1170A>G
c.2074A>G (p.Asn692Asp)
c.2185A>G (p.Asn729Asp)
c.2239A>G (p.Asn747Asp)
n.441A>G
c.2128A>G (p.Asn710Asp)
n.582+10018T>C
c.1813A>G (p.Asn605Asp)
c.1810A>G (p.Asn604Asp)
n.2601A>G
n.2436A>G
n.476-11592T>C
n.600+10018T>C
 gnomAD v4
3g.193658902A>TCA355791763OPA1c.2347A>T (p.Asn783Tyr)
c.2182A>T (p.Asn728Tyr)
c.2293A>T (p.Asn765Tyr)
c.2236A>T (p.Asn746Tyr)
c.2121A>T
c.*407A>T (n.*407A>T)
c.1864A>T (p.Asn622Tyr)
c.*2263A>T (n.*2263A>T)
c.1769A>T
c.*666A>T (n.*666A>T)
c.2176A>T
c.2197A>T (p.Asn733Tyr)
c.*1660A>T (n.*1660A>T)
c.*783A>T (n.*783A>T)
c.1170A>T
c.2074A>T (p.Asn692Tyr)
c.2185A>T (p.Asn729Tyr)
c.2239A>T (p.Asn747Tyr)
n.441A>T
c.2128A>T (p.Asn710Tyr)
n.582+10018T>A
c.1813A>T (p.Asn605Tyr)
c.1810A>T (p.Asn604Tyr)
n.2601A>T
n.2436A>T
n.476-11592T>A
n.600+10018T>A
3g.193658903A=CA1430265021OPA1c.2348A= (p.Asn783=)
c.2183A= (p.Asn728=)
c.2294A= (p.Asn765=)
c.2237A= (p.Asn746=)
c.2122A=
c.*408A= (n.*408A=)
c.1865A= (p.Asn622=)
c.*2264A= (n.*2264A=)
c.1770A=
c.*667A= (n.*667A=)
c.2177A=
c.2198A= (p.Asn733=)
c.*1661A= (n.*1661A=)
c.*784A= (n.*784A=)
c.1171A=
c.2075A= (p.Asn692=)
c.2186A= (p.Asn729=)
c.2240A= (p.Asn747=)
n.442A=
c.2129A= (p.Asn710=)
n.582+10017T=
c.1814A= (p.Asn605=)
c.1811A= (p.Asn604=)
n.2602A=
n.2437A=
n.476-11593T=
n.600+10017T=
3g.193658903A>CCA355791764OPA1c.2348A>C (p.Asn783Thr)
c.2183A>C (p.Asn728Thr)
c.2294A>C (p.Asn765Thr)
c.2237A>C (p.Asn746Thr)
c.2122A>C
c.*408A>C (n.*408A>C)
c.1865A>C (p.Asn622Thr)
c.*2264A>C (n.*2264A>C)
c.1770A>C
c.*667A>C (n.*667A>C)
c.2177A>C
c.2198A>C (p.Asn733Thr)
c.*1661A>C (n.*1661A>C)
c.*784A>C (n.*784A>C)
c.1171A>C
c.2075A>C (p.Asn692Thr)
c.2186A>C (p.Asn729Thr)
c.2240A>C (p.Asn747Thr)
n.442A>C
c.2129A>C (p.Asn710Thr)
n.582+10017T>G
c.1814A>C (p.Asn605Thr)
c.1811A>C (p.Asn604Thr)
n.2602A>C
n.2437A>C
n.476-11593T>G
n.600+10017T>G
3g.193658903A>GCA2759638OPA1c.2348A>G (p.Asn783Ser)
c.2183A>G (p.Asn728Ser)
c.2294A>G (p.Asn765Ser)
c.2237A>G (p.Asn746Ser)
c.2122A>G
c.*408A>G (n.*408A>G)
c.1865A>G (p.Asn622Ser)
c.*2264A>G (n.*2264A>G)
c.1770A>G
c.*667A>G (n.*667A>G)
c.2177A>G
c.2198A>G (p.Asn733Ser)
c.*1661A>G (n.*1661A>G)
c.*784A>G (n.*784A>G)
c.1171A>G
c.2075A>G (p.Asn692Ser)
c.2186A>G (p.Asn729Ser)
c.2240A>G (p.Asn747Ser)
n.442A>G
c.2129A>G (p.Asn710Ser)
n.582+10017T>C
c.1814A>G (p.Asn605Ser)
c.1811A>G (p.Asn604Ser)
n.2602A>G
n.2437A>G
n.476-11593T>C
n.600+10017T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.193658903A>TCA355791765OPA1c.2348A>T (p.Asn783Ile)
c.2183A>T (p.Asn728Ile)
c.2294A>T (p.Asn765Ile)
c.2237A>T (p.Asn746Ile)
c.2122A>T
c.*408A>T (n.*408A>T)
c.1865A>T (p.Asn622Ile)
c.*2264A>T (n.*2264A>T)
c.1770A>T
c.*667A>T (n.*667A>T)
c.2177A>T
c.2198A>T (p.Asn733Ile)
c.*1661A>T (n.*1661A>T)
c.*784A>T (n.*784A>T)
c.1171A>T
c.2075A>T (p.Asn692Ile)
c.2186A>T (p.Asn729Ile)
c.2240A>T (p.Asn747Ile)
n.442A>T
c.2129A>T (p.Asn710Ile)
n.582+10017T>A
c.1814A>T (p.Asn605Ile)
c.1811A>T (p.Asn604Ile)
n.2602A>T
n.2437A>T
n.476-11593T>A
n.600+10017T>A
3g.193658904T>ACA355791766OPA1c.2349T>A (p.Asn783Lys)
c.2184T>A (p.Asn728Lys)
c.2295T>A (p.Asn765Lys)
c.2238T>A (p.Asn746Lys)
c.2123T>A
c.*409T>A (n.*409T>A)
c.1866T>A (p.Asn622Lys)
c.*2265T>A (n.*2265T>A)
c.1771T>A
c.*668T>A (n.*668T>A)
c.2178T>A
c.2199T>A (p.Asn733Lys)
c.*1662T>A (n.*1662T>A)
c.*785T>A (n.*785T>A)
c.1172T>A
c.2076T>A (p.Asn692Lys)
c.2187T>A (p.Asn729Lys)
c.2241T>A (p.Asn747Lys)
n.443T>A
c.2130T>A (p.Asn710Lys)
n.582+10016A>T
c.1815T>A (p.Asn605Lys)
c.1812T>A (p.Asn604Lys)
n.2603T>A
n.2438T>A
n.476-11594A>T
n.600+10016A>T
3g.193658904T>CCA437441129OPA1c.2349T>C (p.Asn783=)
c.2184T>C (p.Asn728=)
c.2295T>C (p.Asn765=)
c.2238T>C (p.Asn746=)
c.2123T>C
c.*409T>C (n.*409T>C)
c.1866T>C (p.Asn622=)
c.*2265T>C (n.*2265T>C)
c.1771T>C
c.*668T>C (n.*668T>C)
c.2178T>C
c.2199T>C (p.Asn733=)
c.*1662T>C (n.*1662T>C)
c.*785T>C (n.*785T>C)
c.1172T>C
c.2076T>C (p.Asn692=)
c.2187T>C (p.Asn729=)
c.2241T>C (p.Asn747=)
n.443T>C
c.2130T>C (p.Asn710=)
n.582+10016A>G
c.1815T>C (p.Asn605=)
c.1812T>C (p.Asn604=)
n.2603T>C
n.2438T>C
n.476-11594A>G
n.600+10016A>G
 ClinVar
3g.193658904T>GCA355791767OPA1c.2349T>G (p.Asn783Lys)
c.2184T>G (p.Asn728Lys)
c.2295T>G (p.Asn765Lys)
c.2238T>G (p.Asn746Lys)
c.2123T>G
c.*409T>G (n.*409T>G)
c.1866T>G (p.Asn622Lys)
c.*2265T>G (n.*2265T>G)
c.1771T>G
c.*668T>G (n.*668T>G)
c.2178T>G
c.2199T>G (p.Asn733Lys)
c.*1662T>G (n.*1662T>G)
c.*785T>G (n.*785T>G)
c.1172T>G
c.2076T>G (p.Asn692Lys)
c.2187T>G (p.Asn729Lys)
c.2241T>G (p.Asn747Lys)
n.443T>G
c.2130T>G (p.Asn710Lys)
n.582+10016A>C
c.1815T>G (p.Asn605Lys)
c.1812T>G (p.Asn604Lys)
n.2603T>G
n.2438T>G
n.476-11594A>C
n.600+10016A>C
 dbSNP gnomAD v2 gnomAD v4
3g.193658904T=CA1430265026OPA1c.2349T= (p.Asn783=)
c.2184T= (p.Asn728=)
c.2295T= (p.Asn765=)
c.2238T= (p.Asn746=)
c.2123T=
c.*409T= (n.*409T=)
c.1866T= (p.Asn622=)
c.*2265T= (n.*2265T=)
c.1771T=
c.*668T= (n.*668T=)
c.2178T=
c.2199T= (p.Asn733=)
c.*1662T= (n.*1662T=)
c.*785T= (n.*785T=)
c.1172T=
c.2076T= (p.Asn692=)
c.2187T= (p.Asn729=)
c.2241T= (p.Asn747=)
n.443T=
c.2130T= (p.Asn710=)
n.582+10016A=
c.1815T= (p.Asn605=)
c.1812T= (p.Asn604=)
n.2603T=
n.2438T=
n.476-11594A=
n.600+10016A=
3g.193658905G>ACA355791768OPA1c.2350G>A (p.Ala784Thr)
c.2185G>A (p.Ala729Thr)
c.2296G>A (p.Ala766Thr)
c.2239G>A (p.Ala747Thr)
c.2124G>A
c.*410G>A (n.*410G>A)
c.1867G>A (p.Ala623Thr)
c.*2266G>A (n.*2266G>A)
c.1772G>A
c.*669G>A (n.*669G>A)
c.2179G>A
c.2200G>A (p.Ala734Thr)
c.*1663G>A (n.*1663G>A)
c.*786G>A (n.*786G>A)
c.1173G>A
c.2077G>A (p.Ala693Thr)
c.2188G>A (p.Ala730Thr)
c.2242G>A (p.Ala748Thr)
n.444G>A
c.2131G>A (p.Ala711Thr)
n.582+10015C>T
c.1816G>A (p.Ala606Thr)
c.1813G>A (p.Ala605Thr)
n.2604G>A
n.2439G>A
n.476-11595C>T
n.600+10015C>T
 ClinVar dbSNP gnomAD v4
3g.193658905G>CCA355791769OPA1c.2350G>C (p.Ala784Pro)
c.2185G>C (p.Ala729Pro)
c.2296G>C (p.Ala766Pro)
c.2239G>C (p.Ala747Pro)
c.2124G>C
c.*410G>C (n.*410G>C)
c.1867G>C (p.Ala623Pro)
c.*2266G>C (n.*2266G>C)
c.1772G>C
c.*669G>C (n.*669G>C)
c.2179G>C
c.2200G>C (p.Ala734Pro)
c.*1663G>C (n.*1663G>C)
c.*786G>C (n.*786G>C)
c.1173G>C
c.2077G>C (p.Ala693Pro)
c.2188G>C (p.Ala730Pro)
c.2242G>C (p.Ala748Pro)
n.444G>C
c.2131G>C (p.Ala711Pro)
n.582+10015C>G
c.1816G>C (p.Ala606Pro)
c.1813G>C (p.Ala605Pro)
n.2604G>C
n.2439G>C
n.476-11595C>G
n.600+10015C>G
3g.193658905G=CA1430265028OPA1c.2350G= (p.Ala784=)
c.2185G= (p.Ala729=)
c.2296G= (p.Ala766=)
c.2239G= (p.Ala747=)
c.2124G=
c.*410G= (n.*410G=)
c.1867G= (p.Ala623=)
c.*2266G= (n.*2266G=)
c.1772G=
c.*669G= (n.*669G=)
c.2179G=
c.2200G= (p.Ala734=)
c.*1663G= (n.*1663G=)
c.*786G= (n.*786G=)
c.1173G=
c.2077G= (p.Ala693=)
c.2188G= (p.Ala730=)
c.2242G= (p.Ala748=)
n.444G=
c.2131G= (p.Ala711=)
n.582+10015C=
c.1816G= (p.Ala606=)
c.1813G= (p.Ala605=)
n.2604G=
n.2439G=
n.476-11595C=
n.600+10015C=
3g.193658905G>TCA355791770OPA1c.2350G>T (p.Ala784Ser)
c.2185G>T (p.Ala729Ser)
c.2296G>T (p.Ala766Ser)
c.2239G>T (p.Ala747Ser)
c.2124G>T
c.*410G>T (n.*410G>T)
c.1867G>T (p.Ala623Ser)
c.*2266G>T (n.*2266G>T)
c.1772G>T
c.*669G>T (n.*669G>T)
c.2179G>T
c.2200G>T (p.Ala734Ser)
c.*1663G>T (n.*1663G>T)
c.*786G>T (n.*786G>T)
c.1173G>T
c.2077G>T (p.Ala693Ser)
c.2188G>T (p.Ala730Ser)
c.2242G>T (p.Ala748Ser)
n.444G>T
c.2131G>T (p.Ala711Ser)
n.582+10015C>A
c.1816G>T (p.Ala606Ser)
c.1813G>T (p.Ala605Ser)
n.2604G>T
n.2439G>T
n.476-11595C>A
n.600+10015C>A
3g.193658906C>ACA355791771OPA1c.2351C>A (p.Ala784Asp)
c.2186C>A (p.Ala729Asp)
c.2297C>A (p.Ala766Asp)
c.2240C>A (p.Ala747Asp)
c.2125C>A
c.*411C>A (n.*411C>A)
c.1868C>A (p.Ala623Asp)
c.*2267C>A (n.*2267C>A)
c.1773C>A
c.*670C>A (n.*670C>A)
c.2180C>A
c.2201C>A (p.Ala734Asp)
c.*1664C>A (n.*1664C>A)
c.*787C>A (n.*787C>A)
c.1174C>A
c.2078C>A (p.Ala693Asp)
c.2189C>A (p.Ala730Asp)
c.2243C>A (p.Ala748Asp)
n.445C>A
c.2132C>A (p.Ala711Asp)
n.582+10014G>T
c.1817C>A (p.Ala606Asp)
c.1814C>A (p.Ala605Asp)
n.2605C>A
n.2440C>A
n.476-11596G>T
n.600+10014G>T
3g.193658906C>GCA355791772OPA1c.2351C>G (p.Ala784Gly)
c.2186C>G (p.Ala729Gly)
c.2297C>G (p.Ala766Gly)
c.2240C>G (p.Ala747Gly)
c.2125C>G
c.*411C>G (n.*411C>G)
c.1868C>G (p.Ala623Gly)
c.*2267C>G (n.*2267C>G)
c.1773C>G
c.*670C>G (n.*670C>G)
c.2180C>G
c.2201C>G (p.Ala734Gly)
c.*1664C>G (n.*1664C>G)
c.*787C>G (n.*787C>G)
c.1174C>G
c.2078C>G (p.Ala693Gly)
c.2189C>G (p.Ala730Gly)
c.2243C>G (p.Ala748Gly)
n.445C>G
c.2132C>G (p.Ala711Gly)
n.582+10014G>C
c.1817C>G (p.Ala606Gly)
c.1814C>G (p.Ala605Gly)
n.2605C>G
n.2440C>G
n.476-11596G>C
n.600+10014G>C
3g.193658906C>TCA355791773OPA1c.2351C>T (p.Ala784Val)
c.2186C>T (p.Ala729Val)
c.2297C>T (p.Ala766Val)
c.2240C>T (p.Ala747Val)
c.2125C>T
c.*411C>T (n.*411C>T)
c.1868C>T (p.Ala623Val)
c.*2267C>T (n.*2267C>T)
c.1773C>T
c.*670C>T (n.*670C>T)
c.2180C>T
c.2201C>T (p.Ala734Val)
c.*1664C>T (n.*1664C>T)
c.*787C>T (n.*787C>T)
c.1174C>T
c.2078C>T (p.Ala693Val)
c.2189C>T (p.Ala730Val)
c.2243C>T (p.Ala748Val)
n.445C>T
c.2132C>T (p.Ala711Val)
n.582+10014G>A
c.1817C>T (p.Ala606Val)
c.1814C>T (p.Ala605Val)
n.2605C>T
n.2440C>T
n.476-11596G>A
n.600+10014G>A
3g.193658907T>ACA437441138OPA1c.2352T>A (p.Ala784=)
c.2187T>A (p.Ala729=)
c.2298T>A (p.Ala766=)
c.2241T>A (p.Ala747=)
c.2126T>A
c.*412T>A (n.*412T>A)
c.1869T>A (p.Ala623=)
c.*2268T>A (n.*2268T>A)
c.1774T>A
c.*671T>A (n.*671T>A)
c.2181T>A
c.2202T>A (p.Ala734=)
c.*1665T>A (n.*1665T>A)
c.*788T>A (n.*788T>A)
c.1175T>A
c.2079T>A (p.Ala693=)
c.2190T>A (p.Ala730=)
c.2244T>A (p.Ala748=)
n.446T>A
c.2133T>A (p.Ala711=)
n.582+10013A>T
c.1818T>A (p.Ala606=)
c.1815T>A (p.Ala605=)
n.2606T>A
n.2441T>A
n.476-11597A>T
n.600+10013A>T
3g.193658907T>CCA437441140OPA1c.2352T>C (p.Ala784=)
c.2187T>C (p.Ala729=)
c.2298T>C (p.Ala766=)
c.2241T>C (p.Ala747=)
c.2126T>C
c.*412T>C (n.*412T>C)
c.1869T>C (p.Ala623=)
c.*2268T>C (n.*2268T>C)
c.1774T>C
c.*671T>C (n.*671T>C)
c.2181T>C
c.2202T>C (p.Ala734=)
c.*1665T>C (n.*1665T>C)
c.*788T>C (n.*788T>C)
c.1175T>C
c.2079T>C (p.Ala693=)
c.2190T>C (p.Ala730=)
c.2244T>C (p.Ala748=)
n.446T>C
c.2133T>C (p.Ala711=)
n.582+10013A>G
c.1818T>C (p.Ala606=)
c.1815T>C (p.Ala605=)
n.2606T>C
n.2441T>C
n.476-11597A>G
n.600+10013A>G
3g.193658907T>GCA437441142OPA1c.2352T>G (p.Ala784=)
c.2187T>G (p.Ala729=)
c.2298T>G (p.Ala766=)
c.2241T>G (p.Ala747=)
c.2126T>G
c.*412T>G (n.*412T>G)
c.1869T>G (p.Ala623=)
c.*2268T>G (n.*2268T>G)
c.1774T>G
c.*671T>G (n.*671T>G)
c.2181T>G
c.2202T>G (p.Ala734=)
c.*1665T>G (n.*1665T>G)
c.*788T>G (n.*788T>G)
c.1175T>G
c.2079T>G (p.Ala693=)
c.2190T>G (p.Ala730=)
c.2244T>G (p.Ala748=)
n.446T>G
c.2133T>G (p.Ala711=)
n.582+10013A>C
c.1818T>G (p.Ala606=)
c.1815T>G (p.Ala605=)
n.2606T>G
n.2441T>G
n.476-11597A>C
n.600+10013A>C
3g.193658908T>ACA355791774OPA1c.2353T>A (p.Leu785Met)
c.2188T>A (p.Leu730Met)
c.2299T>A (p.Leu767Met)
c.2242T>A (p.Leu748Met)
c.2127T>A
c.*413T>A (n.*413T>A)
c.1870T>A (p.Leu624Met)
c.*2269T>A (n.*2269T>A)
c.1775T>A
c.*672T>A (n.*672T>A)
c.2182T>A
c.2203T>A (p.Leu735Met)
c.*1666T>A (n.*1666T>A)
c.*789T>A (n.*789T>A)
c.1176T>A
c.2080T>A (p.Leu694Met)
c.2191T>A (p.Leu731Met)
c.2245T>A (p.Leu749Met)
n.447T>A
c.2134T>A (p.Leu712Met)
n.582+10012A>T
c.1819T>A (p.Leu607Met)
c.1816T>A (p.Leu606Met)
n.2607T>A
n.2442T>A
n.476-11598A>T
n.600+10012A>T
3g.193658908T>CCA437441146OPA1c.2353T>C (p.Leu785=)
c.2188T>C (p.Leu730=)
c.2299T>C (p.Leu767=)
c.2242T>C (p.Leu748=)
c.2127T>C
c.*413T>C (n.*413T>C)
c.1870T>C (p.Leu624=)
c.*2269T>C (n.*2269T>C)
c.1775T>C
c.*672T>C (n.*672T>C)
c.2182T>C
c.2203T>C (p.Leu735=)
c.*1666T>C (n.*1666T>C)
c.*789T>C (n.*789T>C)
c.1176T>C
c.2080T>C (p.Leu694=)
c.2191T>C (p.Leu731=)
c.2245T>C (p.Leu749=)
n.447T>C
c.2134T>C (p.Leu712=)
n.582+10012A>G
c.1819T>C (p.Leu607=)
c.1816T>C (p.Leu606=)
n.2607T>C
n.2442T>C
n.476-11598A>G
n.600+10012A>G
3g.193658908T>GCA355791775OPA1c.2353T>G (p.Leu785Val)
c.2188T>G (p.Leu730Val)
c.2299T>G (p.Leu767Val)
c.2242T>G (p.Leu748Val)
c.2127T>G
c.*413T>G (n.*413T>G)
c.1870T>G (p.Leu624Val)
c.*2269T>G (n.*2269T>G)
c.1775T>G
c.*672T>G (n.*672T>G)
c.2182T>G
c.2203T>G (p.Leu735Val)
c.*1666T>G (n.*1666T>G)
c.*789T>G (n.*789T>G)
c.1176T>G
c.2080T>G (p.Leu694Val)
c.2191T>G (p.Leu731Val)
c.2245T>G (p.Leu749Val)
n.447T>G
c.2134T>G (p.Leu712Val)
n.582+10012A>C
c.1819T>G (p.Leu607Val)
c.1816T>G (p.Leu606Val)
n.2607T>G
n.2442T>G
n.476-11598A>C
n.600+10012A>C
 dbSNP gnomAD v3 gnomAD v4
3g.193658908T=CA1430265031OPA1c.2353T= (p.Leu785=)
c.2188T= (p.Leu730=)
c.2299T= (p.Leu767=)
c.2242T= (p.Leu748=)
c.2127T=
c.*413T= (n.*413T=)
c.1870T= (p.Leu624=)
c.*2269T= (n.*2269T=)
c.1775T=
c.*672T= (n.*672T=)
c.2182T=
c.2203T= (p.Leu735=)
c.*1666T= (n.*1666T=)
c.*789T= (n.*789T=)
c.1176T=
c.2080T= (p.Leu694=)
c.2191T= (p.Leu731=)
c.2245T= (p.Leu749=)
n.447T=
c.2134T= (p.Leu712=)
n.582+10012A=
c.1819T= (p.Leu607=)
c.1816T= (p.Leu606=)
n.2607T=
n.2442T=
n.476-11598A=
n.600+10012A=
3g.193658909T>ACA355791776OPA1c.2354T>A (p.Leu785Ter)
c.2189T>A (p.Leu730Ter)
c.2300T>A (p.Leu767Ter)
c.2243T>A (p.Leu748Ter)
c.2128T>A
c.*414T>A (n.*414T>A)
c.1871T>A (p.Leu624Ter)
c.*2270T>A (n.*2270T>A)
c.1776T>A
c.*673T>A (n.*673T>A)
c.2183T>A
c.2204T>A (p.Leu735Ter)
c.*1667T>A (n.*1667T>A)
c.*790T>A (n.*790T>A)
c.1177T>A
c.2081T>A (p.Leu694Ter)
c.2192T>A (p.Leu731Ter)
c.2246T>A (p.Leu749Ter)
n.448T>A
c.2135T>A (p.Leu712Ter)
n.582+10011A>T
c.1820T>A (p.Leu607Ter)
c.1817T>A (p.Leu606Ter)
n.2608T>A
n.2443T>A
n.476-11599A>T
n.600+10011A>T
3g.193658909T>CCA355791777OPA1c.2354T>C (p.Leu785Ser)
c.2189T>C (p.Leu730Ser)
c.2300T>C (p.Leu767Ser)
c.2243T>C (p.Leu748Ser)
c.2128T>C
c.*414T>C (n.*414T>C)
c.1871T>C (p.Leu624Ser)
c.*2270T>C (n.*2270T>C)
c.1776T>C
c.*673T>C (n.*673T>C)
c.2183T>C
c.2204T>C (p.Leu735Ser)
c.*1667T>C (n.*1667T>C)
c.*790T>C (n.*790T>C)
c.1177T>C
c.2081T>C (p.Leu694Ser)
c.2192T>C (p.Leu731Ser)
c.2246T>C (p.Leu749Ser)
n.448T>C
c.2135T>C (p.Leu712Ser)
n.582+10011A>G
c.1820T>C (p.Leu607Ser)
c.1817T>C (p.Leu606Ser)
n.2608T>C
n.2443T>C
n.476-11599A>G
n.600+10011A>G
3g.193658909T>GCA355791778OPA1c.2354T>G (p.Leu785Trp)
c.2189T>G (p.Leu730Trp)
c.2300T>G (p.Leu767Trp)
c.2243T>G (p.Leu748Trp)
c.2128T>G
c.*414T>G (n.*414T>G)
c.1871T>G (p.Leu624Trp)
c.*2270T>G (n.*2270T>G)
c.1776T>G
c.*673T>G (n.*673T>G)
c.2183T>G
c.2204T>G (p.Leu735Trp)
c.*1667T>G (n.*1667T>G)
c.*790T>G (n.*790T>G)
c.1177T>G
c.2081T>G (p.Leu694Trp)
c.2192T>G (p.Leu731Trp)
c.2246T>G (p.Leu749Trp)
n.448T>G
c.2135T>G (p.Leu712Trp)
n.582+10011A>C
c.1820T>G (p.Leu607Trp)
c.1817T>G (p.Leu606Trp)
n.2608T>G
n.2443T>G
n.476-11599A>C
n.600+10011A>C
3g.193658910G>ACA437441152OPA1c.2355G>A (p.Leu785=)
c.2190G>A (p.Leu730=)
c.2301G>A (p.Leu767=)
c.2244G>A (p.Leu748=)
c.2129G>A
c.*415G>A (n.*415G>A)
c.1872G>A (p.Leu624=)
c.*2271G>A (n.*2271G>A)
c.1777G>A
c.*674G>A (n.*674G>A)
c.2184G>A
c.2205G>A (p.Leu735=)
c.*1668G>A (n.*1668G>A)
c.*791G>A (n.*791G>A)
c.1178G>A
c.2082G>A (p.Leu694=)
c.2193G>A (p.Leu731=)
c.2247G>A (p.Leu749=)
n.449G>A
c.2136G>A (p.Leu712=)
n.582+10010C>T
c.1821G>A (p.Leu607=)
c.1818G>A (p.Leu606=)
n.2609G>A
n.2444G>A
n.476-11600C>T
n.600+10010C>T
 ClinVar dbSNP gnomAD v4
3g.193658910G>CCA355791779OPA1c.2355G>C (p.Leu785Phe)
c.2190G>C (p.Leu730Phe)
c.2301G>C (p.Leu767Phe)
c.2244G>C (p.Leu748Phe)
c.2129G>C
c.*415G>C (n.*415G>C)
c.1872G>C (p.Leu624Phe)
c.*2271G>C (n.*2271G>C)
c.1777G>C
c.*674G>C (n.*674G>C)
c.2184G>C
c.2205G>C (p.Leu735Phe)
c.*1668G>C (n.*1668G>C)
c.*791G>C (n.*791G>C)
c.1178G>C
c.2082G>C (p.Leu694Phe)
c.2193G>C (p.Leu731Phe)
c.2247G>C (p.Leu749Phe)
n.449G>C
c.2136G>C (p.Leu712Phe)
n.582+10010C>G
c.1821G>C (p.Leu607Phe)
c.1818G>C (p.Leu606Phe)
n.2609G>C
n.2444G>C
n.476-11600C>G
n.600+10010C>G
3g.193658910G>TCA355791780OPA1c.2355G>T (p.Leu785Phe)
c.2190G>T (p.Leu730Phe)
c.2301G>T (p.Leu767Phe)
c.2244G>T (p.Leu748Phe)
c.2129G>T
c.*415G>T (n.*415G>T)
c.1872G>T (p.Leu624Phe)
c.*2271G>T (n.*2271G>T)
c.1777G>T
c.*674G>T (n.*674G>T)
c.2184G>T
c.2205G>T (p.Leu735Phe)
c.*1668G>T (n.*1668G>T)
c.*791G>T (n.*791G>T)
c.1178G>T
c.2082G>T (p.Leu694Phe)
c.2193G>T (p.Leu731Phe)
c.2247G>T (p.Leu749Phe)
n.449G>T
c.2136G>T (p.Leu712Phe)
n.582+10010C>A
c.1821G>T (p.Leu607Phe)
c.1818G>T (p.Leu606Phe)
n.2609G>T
n.2444G>T
n.476-11600C>A
n.600+10010C>A
3g.193658911G>ACA355791783OPA1c.2356G>A (p.Glu786Lys)
c.2191G>A (p.Glu731Lys)
c.2302G>A (p.Glu768Lys)
c.2245G>A (p.Glu749Lys)
c.2130G>A
c.*416G>A (n.*416G>A)
c.1873G>A (p.Glu625Lys)
c.*2272G>A (n.*2272G>A)
c.1778G>A
c.*675G>A (n.*675G>A)
c.2185G>A
c.2206G>A (p.Glu736Lys)
c.*1669G>A (n.*1669G>A)
c.*792G>A (n.*792G>A)
c.1179G>A
c.2083G>A (p.Glu695Lys)
c.2194G>A (p.Glu732Lys)
c.2248G>A (p.Glu750Lys)
n.450G>A
c.2137G>A (p.Glu713Lys)
n.582+10009C>T
c.1822G>A (p.Glu608Lys)
c.1819G>A (p.Glu607Lys)
n.2610G>A
n.2445G>A
n.476-11601C>T
n.600+10009C>T
3g.193658911G>CCA355791781OPA1c.2356G>C (p.Glu786Gln)
c.2191G>C (p.Glu731Gln)
c.2302G>C (p.Glu768Gln)
c.2245G>C (p.Glu749Gln)
c.2130G>C
c.*416G>C (n.*416G>C)
c.1873G>C (p.Glu625Gln)
c.*2272G>C (n.*2272G>C)
c.1778G>C
c.*675G>C (n.*675G>C)
c.2185G>C
c.2206G>C (p.Glu736Gln)
c.*1669G>C (n.*1669G>C)
c.*792G>C (n.*792G>C)
c.1179G>C
c.2083G>C (p.Glu695Gln)
c.2194G>C (p.Glu732Gln)
c.2248G>C (p.Glu750Gln)
n.450G>C
c.2137G>C (p.Glu713Gln)
n.582+10009C>G
c.1822G>C (p.Glu608Gln)
c.1819G>C (p.Glu607Gln)
n.2610G>C
n.2445G>C
n.476-11601C>G
n.600+10009C>G
3g.193658911G>TCA355791782OPA1c.2356G>T (p.Glu786Ter)
c.2191G>T (p.Glu731Ter)
c.2302G>T (p.Glu768Ter)
c.2245G>T (p.Glu749Ter)
c.2130G>T
c.*416G>T (n.*416G>T)
c.1873G>T (p.Glu625Ter)
c.*2272G>T (n.*2272G>T)
c.1778G>T
c.*675G>T (n.*675G>T)
c.2185G>T
c.2206G>T (p.Glu736Ter)
c.*1669G>T (n.*1669G>T)
c.*792G>T (n.*792G>T)
c.1179G>T
c.2083G>T (p.Glu695Ter)
c.2194G>T (p.Glu732Ter)
c.2248G>T (p.Glu750Ter)
n.450G>T
c.2137G>T (p.Glu713Ter)
n.582+10009C>A
c.1822G>T (p.Glu608Ter)
c.1819G>T (p.Glu607Ter)
n.2610G>T
n.2445G>T
n.476-11601C>A
n.600+10009C>A
3g.193658912A>CCA355791784OPA1c.2357A>C (p.Glu786Ala)
c.2192A>C (p.Glu731Ala)
c.2303A>C (p.Glu768Ala)
c.2246A>C (p.Glu749Ala)
c.2131A>C
c.*417A>C (n.*417A>C)
c.1874A>C (p.Glu625Ala)
c.*2273A>C (n.*2273A>C)
c.1779A>C
c.*676A>C (n.*676A>C)
c.2186A>C
c.2207A>C (p.Glu736Ala)
c.*1670A>C (n.*1670A>C)
c.*793A>C (n.*793A>C)
c.1180A>C
c.2084A>C (p.Glu695Ala)
c.2195A>C (p.Glu732Ala)
c.2249A>C (p.Glu750Ala)
n.451A>C
c.2138A>C (p.Glu713Ala)
n.582+10008T>G
c.1823A>C (p.Glu608Ala)
c.1820A>C (p.Glu607Ala)
n.2611A>C
n.2446A>C
n.476-11602T>G
n.600+10008T>G
3g.193658912A>GCA355791785OPA1c.2357A>G (p.Glu786Gly)
c.2192A>G (p.Glu731Gly)
c.2303A>G (p.Glu768Gly)
c.2246A>G (p.Glu749Gly)
c.2131A>G
c.*417A>G (n.*417A>G)
c.1874A>G (p.Glu625Gly)
c.*2273A>G (n.*2273A>G)
c.1779A>G
c.*676A>G (n.*676A>G)
c.2186A>G
c.2207A>G (p.Glu736Gly)
c.*1670A>G (n.*1670A>G)
c.*793A>G (n.*793A>G)
c.1180A>G
c.2084A>G (p.Glu695Gly)
c.2195A>G (p.Glu732Gly)
c.2249A>G (p.Glu750Gly)
n.451A>G
c.2138A>G (p.Glu713Gly)
n.582+10008T>C
c.1823A>G (p.Glu608Gly)
c.1820A>G (p.Glu607Gly)
n.2611A>G
n.2446A>G
n.476-11602T>C
n.600+10008T>C
3g.193658912A>TCA355791786OPA1c.2357A>T (p.Glu786Val)
c.2192A>T (p.Glu731Val)
c.2303A>T (p.Glu768Val)
c.2246A>T (p.Glu749Val)
c.2131A>T
c.*417A>T (n.*417A>T)
c.1874A>T (p.Glu625Val)
c.*2273A>T (n.*2273A>T)
c.1779A>T
c.*676A>T (n.*676A>T)
c.2186A>T
c.2207A>T (p.Glu736Val)
c.*1670A>T (n.*1670A>T)
c.*793A>T (n.*793A>T)
c.1180A>T
c.2084A>T (p.Glu695Val)
c.2195A>T (p.Glu732Val)
c.2249A>T (p.Glu750Val)
n.451A>T
c.2138A>T (p.Glu713Val)
n.582+10008T>A
c.1823A>T (p.Glu608Val)
c.1820A>T (p.Glu607Val)
n.2611A>T
n.2446A>T
n.476-11602T>A
n.600+10008T>A
3g.193658913A>CCA355791787OPA1c.2358A>C (p.Glu786Asp)
c.2193A>C (p.Glu731Asp)
c.2304A>C (p.Glu768Asp)
c.2247A>C (p.Glu749Asp)
c.2132A>C
c.*418A>C (n.*418A>C)
c.1875A>C (p.Glu625Asp)
c.*2274A>C (n.*2274A>C)
c.1780A>C
c.*677A>C (n.*677A>C)
c.2187A>C
c.2208A>C (p.Glu736Asp)
c.*1671A>C (n.*1671A>C)
c.*794A>C (n.*794A>C)
c.1181A>C
c.2085A>C (p.Glu695Asp)
c.2196A>C (p.Glu732Asp)
c.2250A>C (p.Glu750Asp)
n.452A>C
c.2139A>C (p.Glu713Asp)
n.582+10007T>G
c.1824A>C (p.Glu608Asp)
c.1821A>C (p.Glu607Asp)
n.2612A>C
n.2447A>C
n.476-11603T>G
n.600+10007T>G
3g.193658913A>GCA437441164OPA1c.2358A>G (p.Glu786=)
c.2193A>G (p.Glu731=)
c.2304A>G (p.Glu768=)
c.2247A>G (p.Glu749=)
c.2132A>G
c.*418A>G (n.*418A>G)
c.1875A>G (p.Glu625=)
c.*2274A>G (n.*2274A>G)
c.1780A>G
c.*677A>G (n.*677A>G)
c.2187A>G
c.2208A>G (p.Glu736=)
c.*1671A>G (n.*1671A>G)
c.*794A>G (n.*794A>G)
c.1181A>G
c.2085A>G (p.Glu695=)
c.2196A>G (p.Glu732=)
c.2250A>G (p.Glu750=)
n.452A>G
c.2139A>G (p.Glu713=)
n.582+10007T>C
c.1824A>G (p.Glu608=)
c.1821A>G (p.Glu607=)
n.2612A>G
n.2447A>G
n.476-11603T>C
n.600+10007T>C
3g.193658913A>TCA355791788OPA1c.2358A>T (p.Glu786Asp)
c.2193A>T (p.Glu731Asp)
c.2304A>T (p.Glu768Asp)
c.2247A>T (p.Glu749Asp)
c.2132A>T
c.*418A>T (n.*418A>T)
c.1875A>T (p.Glu625Asp)
c.*2274A>T (n.*2274A>T)
c.1780A>T
c.*677A>T (n.*677A>T)
c.2187A>T
c.2208A>T (p.Glu736Asp)
c.*1671A>T (n.*1671A>T)
c.*794A>T (n.*794A>T)
c.1181A>T
c.2085A>T (p.Glu695Asp)
c.2196A>T (p.Glu732Asp)
c.2250A>T (p.Glu750Asp)
n.452A>T
c.2139A>T (p.Glu713Asp)
n.582+10007T>A
c.1824A>T (p.Glu608Asp)
c.1821A>T (p.Glu607Asp)
n.2612A>T
n.2447A>T
n.476-11603T>A
n.600+10007T>A
3g.193658913_193658916dupCA2586973375OPA1c.2358_2361dup (p.Ser789ProfsTer5)
c.2193_2196dup (p.Ser734ProfsTer5)
c.2304_2307dup (p.Ser771ProfsTer5)
c.2247_2250dup (p.Ser752ProfsTer5)
c.2132_2135dup
c.*418_*421dup (n.*418_*421dup)
c.1875_1878dup (p.Ser628ProfsTer5)
c.*2274_*2277dup (n.*2274_*2277dup)
c.1780_1783dup
c.*677_*680dup (n.*677_*680dup)
c.2187_2190dup
c.2208_2211dup (p.Ser739ProfsTer5)
c.*1671_*1674dup (n.*1671_*1674dup)
c.*794_*797dup (n.*794_*797dup)
c.1181_1184dup
c.2085_2088dup (p.Ser698ProfsTer5)
c.2196_2199dup (p.Ser735ProfsTer5)
c.2250_2253dup (p.Ser753ProfsTer5)
n.452_455dup
c.2139_2142dup (p.Ser716ProfsTer5)
n.582+10004_582+10007dup
c.1824_1827dup (p.Ser611ProfsTer5)
c.1821_1824dup (p.Ser610ProfsTer5)
n.2612_2615dup
n.2447_2450dup
n.476-11606_476-11603dup
n.600+10004_600+10007dup
3g.193658914G>ACA355791789OPA1c.2359G>A (p.Asp787Asn)
c.2194G>A (p.Asp732Asn)
c.2305G>A (p.Asp769Asn)
c.2248G>A (p.Asp750Asn)
c.2133G>A
c.*419G>A (n.*419G>A)
c.1876G>A (p.Asp626Asn)
c.*2275G>A (n.*2275G>A)
c.1781G>A
c.*678G>A (n.*678G>A)
c.2188G>A
c.2209G>A (p.Asp737Asn)
c.*1672G>A (n.*1672G>A)
c.*795G>A (n.*795G>A)
c.1182G>A
c.2086G>A (p.Asp696Asn)
c.2197G>A (p.Asp733Asn)
c.2251G>A (p.Asp751Asn)
n.453G>A
c.2140G>A (p.Asp714Asn)
n.582+10006C>T
c.1825G>A (p.Asp609Asn)
c.1822G>A (p.Asp608Asn)
n.2613G>A
n.2448G>A
n.476-11604C>T
n.600+10006C>T
3g.193658914G>CCA355791790OPA1c.2359G>C (p.Asp787His)
c.2194G>C (p.Asp732His)
c.2305G>C (p.Asp769His)
c.2248G>C (p.Asp750His)
c.2133G>C
c.*419G>C (n.*419G>C)
c.1876G>C (p.Asp626His)
c.*2275G>C (n.*2275G>C)
c.1781G>C
c.*678G>C (n.*678G>C)
c.2188G>C
c.2209G>C (p.Asp737His)
c.*1672G>C (n.*1672G>C)
c.*795G>C (n.*795G>C)
c.1182G>C
c.2086G>C (p.Asp696His)
c.2197G>C (p.Asp733His)
c.2251G>C (p.Asp751His)
n.453G>C
c.2140G>C (p.Asp714His)
n.582+10006C>G
c.1825G>C (p.Asp609His)
c.1822G>C (p.Asp608His)
n.2613G>C
n.2448G>C
n.476-11604C>G
n.600+10006C>G
3g.193658914G>TCA355791791OPA1c.2359G>T (p.Asp787Tyr)
c.2194G>T (p.Asp732Tyr)
c.2305G>T (p.Asp769Tyr)
c.2248G>T (p.Asp750Tyr)
c.2133G>T
c.*419G>T (n.*419G>T)
c.1876G>T (p.Asp626Tyr)
c.*2275G>T (n.*2275G>T)
c.1781G>T
c.*678G>T (n.*678G>T)
c.2188G>T
c.2209G>T (p.Asp737Tyr)
c.*1672G>T (n.*1672G>T)
c.*795G>T (n.*795G>T)
c.1182G>T
c.2086G>T (p.Asp696Tyr)
c.2197G>T (p.Asp733Tyr)
c.2251G>T (p.Asp751Tyr)
n.453G>T
c.2140G>T (p.Asp714Tyr)
n.582+10006C>A
c.1825G>T (p.Asp609Tyr)
c.1822G>T (p.Asp608Tyr)
n.2613G>T
n.2448G>T
n.476-11604C>A
n.600+10006C>A
 gnomAD v4
3g.193658915A=CA1430265034OPA1c.2360A= (p.Asp787=)
c.2195A= (p.Asp732=)
c.2306A= (p.Asp769=)
c.2249A= (p.Asp750=)
c.2134A=
c.*420A= (n.*420A=)
c.1877A= (p.Asp626=)
c.*2276A= (n.*2276A=)
c.1782A=
c.*679A= (n.*679A=)
c.2189A=
c.2210A= (p.Asp737=)
c.*1673A= (n.*1673A=)
c.*796A= (n.*796A=)
c.1183A=
c.2087A= (p.Asp696=)
c.2198A= (p.Asp733=)
c.2252A= (p.Asp751=)
n.454A=
c.2141A= (p.Asp714=)
n.582+10005T=
c.1826A= (p.Asp609=)
c.1823A= (p.Asp608=)
n.2614A=
n.2449A=
n.476-11605T=
n.600+10005T=
3g.193658915A>CCA355791792OPA1c.2360A>C (p.Asp787Ala)
c.2195A>C (p.Asp732Ala)
c.2306A>C (p.Asp769Ala)
c.2249A>C (p.Asp750Ala)
c.2134A>C
c.*420A>C (n.*420A>C)
c.1877A>C (p.Asp626Ala)
c.*2276A>C (n.*2276A>C)
c.1782A>C
c.*679A>C (n.*679A>C)
c.2189A>C
c.2210A>C (p.Asp737Ala)
c.*1673A>C (n.*1673A>C)
c.*796A>C (n.*796A>C)
c.1183A>C
c.2087A>C (p.Asp696Ala)
c.2198A>C (p.Asp733Ala)
c.2252A>C (p.Asp751Ala)
n.454A>C
c.2141A>C (p.Asp714Ala)
n.582+10005T>G
c.1826A>C (p.Asp609Ala)
c.1823A>C (p.Asp608Ala)
n.2614A>C
n.2449A>C
n.476-11605T>G
n.600+10005T>G
3g.193658915A>GCA90546570OPA1c.2360A>G (p.Asp787Gly)
c.2195A>G (p.Asp732Gly)
c.2306A>G (p.Asp769Gly)
c.2249A>G (p.Asp750Gly)
c.2134A>G
c.*420A>G (n.*420A>G)
c.1877A>G (p.Asp626Gly)
c.*2276A>G (n.*2276A>G)
c.1782A>G
c.*679A>G (n.*679A>G)
c.2189A>G
c.2210A>G (p.Asp737Gly)
c.*1673A>G (n.*1673A>G)
c.*796A>G (n.*796A>G)
c.1183A>G
c.2087A>G (p.Asp696Gly)
c.2198A>G (p.Asp733Gly)
c.2252A>G (p.Asp751Gly)
n.454A>G
c.2141A>G (p.Asp714Gly)
n.582+10005T>C
c.1826A>G (p.Asp609Gly)
c.1823A>G (p.Asp608Gly)
n.2614A>G
n.2449A>G
n.476-11605T>C
n.600+10005T>C
 dbSNP
3g.193658915A>TCA355791793OPA1c.2360A>T (p.Asp787Val)
c.2195A>T (p.Asp732Val)
c.2306A>T (p.Asp769Val)
c.2249A>T (p.Asp750Val)
c.2134A>T
c.*420A>T (n.*420A>T)
c.1877A>T (p.Asp626Val)
c.*2276A>T (n.*2276A>T)
c.1782A>T
c.*679A>T (n.*679A>T)
c.2189A>T
c.2210A>T (p.Asp737Val)
c.*1673A>T (n.*1673A>T)
c.*796A>T (n.*796A>T)
c.1183A>T
c.2087A>T (p.Asp696Val)
c.2198A>T (p.Asp733Val)
c.2252A>T (p.Asp751Val)
n.454A>T
c.2141A>T (p.Asp714Val)
n.582+10005T>A
c.1826A>T (p.Asp609Val)
c.1823A>T (p.Asp608Val)
n.2614A>T
n.2449A>T
n.476-11605T>A
n.600+10005T>A
3g.193658916C>ACA355791794OPA1c.2361C>A (p.Asp787Glu)
c.2196C>A (p.Asp732Glu)
c.2307C>A (p.Asp769Glu)
c.2250C>A (p.Asp750Glu)
c.2135C>A
c.*421C>A (n.*421C>A)
c.1878C>A (p.Asp626Glu)
c.*2277C>A (n.*2277C>A)
c.1783C>A
c.*680C>A (n.*680C>A)
c.2190C>A
c.2211C>A (p.Asp737Glu)
c.*1674C>A (n.*1674C>A)
c.*797C>A (n.*797C>A)
c.1184C>A
c.2088C>A (p.Asp696Glu)
c.2199C>A (p.Asp733Glu)
c.2253C>A (p.Asp751Glu)
n.455C>A
c.2142C>A (p.Asp714Glu)
n.582+10004G>T
c.1827C>A (p.Asp609Glu)
c.1824C>A (p.Asp608Glu)
n.2615C>A
n.2450C>A
n.476-11606G>T
n.600+10004G>T
3g.193658916C=CA1430265036OPA1c.2361C= (p.Asp787=)
c.2196C= (p.Asp732=)
c.2307C= (p.Asp769=)
c.2250C= (p.Asp750=)
c.2135C=
c.*421C= (n.*421C=)
c.1878C= (p.Asp626=)
c.*2277C= (n.*2277C=)
c.1783C=
c.*680C= (n.*680C=)
c.2190C=
c.2211C= (p.Asp737=)
c.*1674C= (n.*1674C=)
c.*797C= (n.*797C=)
c.1184C=
c.2088C= (p.Asp696=)
c.2199C= (p.Asp733=)
c.2253C= (p.Asp751=)
n.455C=
c.2142C= (p.Asp714=)
n.582+10004G=
c.1827C= (p.Asp609=)
c.1824C= (p.Asp608=)
n.2615C=
n.2450C=
n.476-11606G=
n.600+10004G=
3g.193658916C>GCA355791795OPA1c.2361C>G (p.Asp787Glu)
c.2196C>G (p.Asp732Glu)
c.2307C>G (p.Asp769Glu)
c.2250C>G (p.Asp750Glu)
c.2135C>G
c.*421C>G (n.*421C>G)
c.1878C>G (p.Asp626Glu)
c.*2277C>G (n.*2277C>G)
c.1783C>G
c.*680C>G (n.*680C>G)
c.2190C>G
c.2211C>G (p.Asp737Glu)
c.*1674C>G (n.*1674C>G)
c.*797C>G (n.*797C>G)
c.1184C>G
c.2088C>G (p.Asp696Glu)
c.2199C>G (p.Asp733Glu)
c.2253C>G (p.Asp751Glu)
n.455C>G
c.2142C>G (p.Asp714Glu)
n.582+10004G>C
c.1827C>G (p.Asp609Glu)
c.1824C>G (p.Asp608Glu)
n.2615C>G
n.2450C>G
n.476-11606G>C
n.600+10004G>C
3g.193658916C>TCA437441179OPA1c.2361C>T (p.Asp787=)
c.2196C>T (p.Asp732=)
c.2307C>T (p.Asp769=)
c.2250C>T (p.Asp750=)
c.2135C>T
c.*421C>T (n.*421C>T)
c.1878C>T (p.Asp626=)
c.*2277C>T (n.*2277C>T)
c.1783C>T
c.*680C>T (n.*680C>T)
c.2190C>T
c.2211C>T (p.Asp737=)
c.*1674C>T (n.*1674C>T)
c.*797C>T (n.*797C>T)
c.1184C>T
c.2088C>T (p.Asp696=)
c.2199C>T (p.Asp733=)
c.2253C>T (p.Asp751=)
n.455C>T
c.2142C>T (p.Asp714=)
n.582+10004G>A
c.1827C>T (p.Asp609=)
c.1824C>T (p.Asp608=)
n.2615C>T
n.2450C>T
n.476-11606G>A
n.600+10004G>A
 ClinVar dbSNP gnomAD v4
3g.193658917C>ACA437441181OPA1c.2362C>A (p.Arg788=)
c.2197C>A (p.Arg733=)
c.2308C>A (p.Arg770=)
c.2251C>A (p.Arg751=)
c.2136C>A
c.*422C>A (n.*422C>A)
c.1879C>A (p.Arg627=)
c.*2278C>A (n.*2278C>A)
c.1784C>A
c.*681C>A (n.*681C>A)
c.2191C>A
c.2212C>A (p.Arg738=)
c.*1675C>A (n.*1675C>A)
c.*798C>A (n.*798C>A)
c.1185C>A
c.2089C>A (p.Arg697=)
c.2200C>A (p.Arg734=)
c.2254C>A (p.Arg752=)
n.456C>A
c.2143C>A (p.Arg715=)
n.582+10003G>T
c.1828C>A (p.Arg610=)
c.1825C>A (p.Arg609=)
n.2616C>A
n.2451C>A
n.476-11607G>T
n.600+10003G>T
3g.193658917C=CA1430265039OPA1c.2362C= (p.Arg788=)
c.2197C= (p.Arg733=)
c.2308C= (p.Arg770=)
c.2251C= (p.Arg751=)
c.2136C=
c.*422C= (n.*422C=)
c.1879C= (p.Arg627=)
c.*2278C= (n.*2278C=)
c.1784C=
c.*681C= (n.*681C=)
c.2191C=
c.2212C= (p.Arg738=)
c.*1675C= (n.*1675C=)
c.*798C= (n.*798C=)
c.1185C=
c.2089C= (p.Arg697=)
c.2200C= (p.Arg734=)
c.2254C= (p.Arg752=)
n.456C=
c.2143C= (p.Arg715=)
n.582+10003G=
c.1828C= (p.Arg610=)
c.1825C= (p.Arg609=)
n.2616C=
n.2451C=
n.476-11607G=
n.600+10003G=
3g.193658917C>GCA355791796OPA1c.2362C>G (p.Arg788Gly)
c.2197C>G (p.Arg733Gly)
c.2308C>G (p.Arg770Gly)
c.2251C>G (p.Arg751Gly)
c.2136C>G
c.*422C>G (n.*422C>G)
c.1879C>G (p.Arg627Gly)
c.*2278C>G (n.*2278C>G)
c.1784C>G
c.*681C>G (n.*681C>G)
c.2191C>G
c.2212C>G (p.Arg738Gly)
c.*1675C>G (n.*1675C>G)
c.*798C>G (n.*798C>G)
c.1185C>G
c.2089C>G (p.Arg697Gly)
c.2200C>G (p.Arg734Gly)
c.2254C>G (p.Arg752Gly)
n.456C>G
c.2143C>G (p.Arg715Gly)
n.582+10003G>C
c.1828C>G (p.Arg610Gly)
c.1825C>G (p.Arg609Gly)
n.2616C>G
n.2451C>G
n.476-11607G>C
n.600+10003G>C
 gnomAD v4
3g.193658917C>TCA355791797OPA1c.2362C>T (p.Arg788Ter)
c.2197C>T (p.Arg733Ter)
c.2308C>T (p.Arg770Ter)
c.2251C>T (p.Arg751Ter)
c.2136C>T
c.*422C>T (n.*422C>T)
c.1879C>T (p.Arg627Ter)
c.*2278C>T (n.*2278C>T)
c.1784C>T
c.*681C>T (n.*681C>T)
c.2191C>T
c.2212C>T (p.Arg738Ter)
c.*1675C>T (n.*1675C>T)
c.*798C>T (n.*798C>T)
c.1185C>T
c.2089C>T (p.Arg697Ter)
c.2200C>T (p.Arg734Ter)
c.2254C>T (p.Arg752Ter)
n.456C>T
c.2143C>T (p.Arg715Ter)
n.582+10003G>A
c.1828C>T (p.Arg610Ter)
c.1825C>T (p.Arg609Ter)
n.2616C>T
n.2451C>T
n.476-11607G>A
n.600+10003G>A
 ClinVar dbSNP gnomAD v4
3g.193658918G>ACA355791798OPA1c.2363G>A (p.Arg788Gln)
c.2198G>A (p.Arg733Gln)
c.2309G>A (p.Arg770Gln)
c.2252G>A (p.Arg751Gln)
c.2137G>A
c.*423G>A (n.*423G>A)
c.1880G>A (p.Arg627Gln)
c.*2279G>A (n.*2279G>A)
c.1785G>A
c.*682G>A (n.*682G>A)
c.2192G>A
c.2213G>A (p.Arg738Gln)
c.*1676G>A (n.*1676G>A)
c.*799G>A (n.*799G>A)
c.1186G>A
c.2090G>A (p.Arg697Gln)
c.2201G>A (p.Arg734Gln)
c.2255G>A (p.Arg752Gln)
n.457G>A
c.2144G>A (p.Arg715Gln)
n.582+10002C>T
c.1829G>A (p.Arg610Gln)
c.1826G>A (p.Arg609Gln)
n.2617G>A
n.2452G>A
n.476-11608C>T
n.600+10002C>T
 dbSNP gnomAD v2 gnomAD v4
3g.193658918G>CCA355791800OPA1c.2363G>C (p.Arg788Pro)
c.2198G>C (p.Arg733Pro)
c.2309G>C (p.Arg770Pro)
c.2252G>C (p.Arg751Pro)
c.2137G>C
c.*423G>C (n.*423G>C)
c.1880G>C (p.Arg627Pro)
c.*2279G>C (n.*2279G>C)
c.1785G>C
c.*682G>C (n.*682G>C)
c.2192G>C
c.2213G>C (p.Arg738Pro)
c.*1676G>C (n.*1676G>C)
c.*799G>C (n.*799G>C)
c.1186G>C
c.2090G>C (p.Arg697Pro)
c.2201G>C (p.Arg734Pro)
c.2255G>C (p.Arg752Pro)
n.457G>C
c.2144G>C (p.Arg715Pro)
n.582+10002C>G
c.1829G>C (p.Arg610Pro)
c.1826G>C (p.Arg609Pro)
n.2617G>C
n.2452G>C
n.476-11608C>G
n.600+10002C>G
3g.193658918G=CA1430265045OPA1c.2363G= (p.Arg788=)
c.2198G= (p.Arg733=)
c.2309G= (p.Arg770=)
c.2252G= (p.Arg751=)
c.2137G=
c.*423G= (n.*423G=)
c.1880G= (p.Arg627=)
c.*2279G= (n.*2279G=)
c.1785G=
c.*682G= (n.*682G=)
c.2192G=
c.2213G= (p.Arg738=)
c.*1676G= (n.*1676G=)
c.*799G= (n.*799G=)
c.1186G=
c.2090G= (p.Arg697=)
c.2201G= (p.Arg734=)
c.2255G= (p.Arg752=)
n.457G=
c.2144G= (p.Arg715=)
n.582+10002C=
c.1829G= (p.Arg610=)
c.1826G= (p.Arg609=)
n.2617G=
n.2452G=
n.476-11608C=
n.600+10002C=
3g.193658918G>TCA355791799OPA1c.2363G>T (p.Arg788Leu)
c.2198G>T (p.Arg733Leu)
c.2309G>T (p.Arg770Leu)
c.2252G>T (p.Arg751Leu)
c.2137G>T
c.*423G>T (n.*423G>T)
c.1880G>T (p.Arg627Leu)
c.*2279G>T (n.*2279G>T)
c.1785G>T
c.*682G>T (n.*682G>T)
c.2192G>T
c.2213G>T (p.Arg738Leu)
c.*1676G>T (n.*1676G>T)
c.*799G>T (n.*799G>T)
c.1186G>T
c.2090G>T (p.Arg697Leu)
c.2201G>T (p.Arg734Leu)
c.2255G>T (p.Arg752Leu)
n.457G>T
c.2144G>T (p.Arg715Leu)
n.582+10002C>A
c.1829G>T (p.Arg610Leu)
c.1826G>T (p.Arg609Leu)
n.2617G>T
n.2452G>T
n.476-11608C>A
n.600+10002C>A
3g.193658919A>CCA437441190OPA1c.2364A>C (p.Arg788=)
c.2199A>C (p.Arg733=)
c.2310A>C (p.Arg770=)
c.2253A>C (p.Arg751=)
c.2138A>C
c.*424A>C (n.*424A>C)
c.1881A>C (p.Arg627=)
c.*2280A>C (n.*2280A>C)
c.1786A>C
c.*683A>C (n.*683A>C)
c.2193A>C
c.2214A>C (p.Arg738=)
c.*1677A>C (n.*1677A>C)
c.*800A>C (n.*800A>C)
c.1187A>C
c.2091A>C (p.Arg697=)
c.2202A>C (p.Arg734=)
c.2256A>C (p.Arg752=)
n.458A>C
c.2145A>C (p.Arg715=)
n.582+10001T>G
c.1830A>C (p.Arg610=)
c.1827A>C (p.Arg609=)
n.2618A>C
n.2453A>C
n.476-11609T>G
n.600+10001T>G
3g.193658919A>GCA437441191OPA1c.2364A>G (p.Arg788=)
c.2199A>G (p.Arg733=)
c.2310A>G (p.Arg770=)
c.2253A>G (p.Arg751=)
c.2138A>G
c.*424A>G (n.*424A>G)
c.1881A>G (p.Arg627=)
c.*2280A>G (n.*2280A>G)
c.1786A>G
c.*683A>G (n.*683A>G)
c.2193A>G
c.2214A>G (p.Arg738=)
c.*1677A>G (n.*1677A>G)
c.*800A>G (n.*800A>G)
c.1187A>G
c.2091A>G (p.Arg697=)
c.2202A>G (p.Arg734=)
c.2256A>G (p.Arg752=)
n.458A>G
c.2145A>G (p.Arg715=)
n.582+10001T>C
c.1830A>G (p.Arg610=)
c.1827A>G (p.Arg609=)
n.2618A>G
n.2453A>G
n.476-11609T>C
n.600+10001T>C
 ClinVar
3g.193658919A>TCA437441193OPA1c.2364A>T (p.Arg788=)
c.2199A>T (p.Arg733=)
c.2310A>T (p.Arg770=)
c.2253A>T (p.Arg751=)
c.2138A>T
c.*424A>T (n.*424A>T)
c.1881A>T (p.Arg627=)
c.*2280A>T (n.*2280A>T)
c.1786A>T
c.*683A>T (n.*683A>T)
c.2193A>T
c.2214A>T (p.Arg738=)
c.*1677A>T (n.*1677A>T)
c.*800A>T (n.*800A>T)
c.1187A>T
c.2091A>T (p.Arg697=)
c.2202A>T (p.Arg734=)
c.2256A>T (p.Arg752=)
n.458A>T
c.2145A>T (p.Arg715=)
n.582+10001T>A
c.1830A>T (p.Arg610=)
c.1827A>T (p.Arg609=)
n.2618A>T
n.2453A>T
n.476-11609T>A
n.600+10001T>A
3g.193658920T>ACA355791801OPA1c.2365T>A (p.Ser789Thr)
c.2200T>A (p.Ser734Thr)
c.2311T>A (p.Ser771Thr)
c.2254T>A (p.Ser752Thr)
c.2139T>A
c.*425T>A (n.*425T>A)
c.1882T>A (p.Ser628Thr)
c.*2281T>A (n.*2281T>A)
c.1787T>A
c.*684T>A (n.*684T>A)
c.2194T>A
c.2215T>A (p.Ser739Thr)
c.*1678T>A (n.*1678T>A)
c.*801T>A (n.*801T>A)
c.1188T>A
c.2092T>A (p.Ser698Thr)
c.2203T>A (p.Ser735Thr)
c.2257T>A (p.Ser753Thr)
n.459T>A
c.2146T>A (p.Ser716Thr)
n.582+10000A>T
c.1831T>A (p.Ser611Thr)
c.1828T>A (p.Ser610Thr)
n.2619T>A
n.2454T>A
n.476-11610A>T
n.600+10000A>T
3g.193658920T>CCA355791802OPA1c.2365T>C (p.Ser789Pro)
c.2200T>C (p.Ser734Pro)
c.2311T>C (p.Ser771Pro)
c.2254T>C (p.Ser752Pro)
c.2139T>C
c.*425T>C (n.*425T>C)
c.1882T>C (p.Ser628Pro)
c.*2281T>C (n.*2281T>C)
c.1787T>C
c.*684T>C (n.*684T>C)
c.2194T>C
c.2215T>C (p.Ser739Pro)
c.*1678T>C (n.*1678T>C)
c.*801T>C (n.*801T>C)
c.1188T>C
c.2092T>C (p.Ser698Pro)
c.2203T>C (p.Ser735Pro)
c.2257T>C (p.Ser753Pro)
n.459T>C
c.2146T>C (p.Ser716Pro)
n.582+10000A>G
c.1831T>C (p.Ser611Pro)
c.1828T>C (p.Ser610Pro)
n.2619T>C
n.2454T>C
n.476-11610A>G
n.600+10000A>G
3g.193658920T>GCA355791803OPA1c.2365T>G (p.Ser789Ala)
c.2200T>G (p.Ser734Ala)
c.2311T>G (p.Ser771Ala)
c.2254T>G (p.Ser752Ala)
c.2139T>G
c.*425T>G (n.*425T>G)
c.1882T>G (p.Ser628Ala)
c.*2281T>G (n.*2281T>G)
c.1787T>G
c.*684T>G (n.*684T>G)
c.2194T>G
c.2215T>G (p.Ser739Ala)
c.*1678T>G (n.*1678T>G)
c.*801T>G (n.*801T>G)
c.1188T>G
c.2092T>G (p.Ser698Ala)
c.2203T>G (p.Ser735Ala)
c.2257T>G (p.Ser753Ala)
n.459T>G
c.2146T>G (p.Ser716Ala)
n.582+10000A>C
c.1831T>G (p.Ser611Ala)
c.1828T>G (p.Ser610Ala)
n.2619T>G
n.2454T>G
n.476-11610A>C
n.600+10000A>C
 ClinVar gnomAD v4
3g.193658921C>ACA355791804OPA1c.2366C>A (p.Ser789Tyr)
c.2201C>A (p.Ser734Tyr)
c.2312C>A (p.Ser771Tyr)
c.2255C>A (p.Ser752Tyr)
c.2140C>A
c.*426C>A (n.*426C>A)
c.1883C>A (p.Ser628Tyr)
c.*2282C>A (n.*2282C>A)
c.1788C>A
c.*685C>A (n.*685C>A)
c.2195C>A
c.2216C>A (p.Ser739Tyr)
c.*1679C>A (n.*1679C>A)
c.*802C>A (n.*802C>A)
c.1189C>A
c.2093C>A (p.Ser698Tyr)
c.2204C>A (p.Ser735Tyr)
c.2258C>A (p.Ser753Tyr)
n.460C>A
c.2147C>A (p.Ser716Tyr)
n.582+9999G>T
c.1832C>A (p.Ser611Tyr)
c.1829C>A (p.Ser610Tyr)
n.2620C>A
n.2455C>A
n.476-11611G>T
n.600+9999G>T
3g.193658921C>GCA355791805OPA1c.2366C>G (p.Ser789Cys)
c.2201C>G (p.Ser734Cys)
c.2312C>G (p.Ser771Cys)
c.2255C>G (p.Ser752Cys)
c.2140C>G
c.*426C>G (n.*426C>G)
c.1883C>G (p.Ser628Cys)
c.*2282C>G (n.*2282C>G)
c.1788C>G
c.*685C>G (n.*685C>G)
c.2195C>G
c.2216C>G (p.Ser739Cys)
c.*1679C>G (n.*1679C>G)
c.*802C>G (n.*802C>G)
c.1189C>G
c.2093C>G (p.Ser698Cys)
c.2204C>G (p.Ser735Cys)
c.2258C>G (p.Ser753Cys)
n.460C>G
c.2147C>G (p.Ser716Cys)
n.582+9999G>C
c.1832C>G (p.Ser611Cys)
c.1829C>G (p.Ser610Cys)
n.2620C>G
n.2455C>G
n.476-11611G>C
n.600+9999G>C
3g.193658921C>TCA355791806OPA1c.2366C>T (p.Ser789Phe)
c.2201C>T (p.Ser734Phe)
c.2312C>T (p.Ser771Phe)
c.2255C>T (p.Ser752Phe)
c.2140C>T
c.*426C>T (n.*426C>T)
c.1883C>T (p.Ser628Phe)
c.*2282C>T (n.*2282C>T)
c.1788C>T
c.*685C>T (n.*685C>T)
c.2195C>T
c.2216C>T (p.Ser739Phe)
c.*1679C>T (n.*1679C>T)
c.*802C>T (n.*802C>T)
c.1189C>T
c.2093C>T (p.Ser698Phe)
c.2204C>T (p.Ser735Phe)
c.2258C>T (p.Ser753Phe)
n.460C>T
c.2147C>T (p.Ser716Phe)
n.582+9999G>A
c.1832C>T (p.Ser611Phe)
c.1829C>T (p.Ser610Phe)
n.2620C>T
n.2455C>T
n.476-11611G>A
n.600+9999G>A
3g.193658922C>ACA437441202OPA1c.2367C>A (p.Ser789=)
c.2202C>A (p.Ser734=)
c.2313C>A (p.Ser771=)
c.2256C>A (p.Ser752=)
c.2141C>A
c.*427C>A (n.*427C>A)
c.1884C>A (p.Ser628=)
c.*2283C>A (n.*2283C>A)
c.1789C>A
c.*686C>A (n.*686C>A)
c.2196C>A
c.2217C>A (p.Ser739=)
c.*1680C>A (n.*1680C>A)
c.*803C>A (n.*803C>A)
c.1190C>A
c.2094C>A (p.Ser698=)
c.2205C>A (p.Ser735=)
c.2259C>A (p.Ser753=)
n.461C>A
c.2148C>A (p.Ser716=)
n.582+9998G>T
c.1833C>A (p.Ser611=)
c.1830C>A (p.Ser610=)
n.2621C>A
n.2456C>A
n.476-11612G>T
n.600+9998G>T
3g.193658922C>GCA437441203OPA1c.2367C>G (p.Ser789=)
c.2202C>G (p.Ser734=)
c.2313C>G (p.Ser771=)
c.2256C>G (p.Ser752=)
c.2141C>G
c.*427C>G (n.*427C>G)
c.1884C>G (p.Ser628=)
c.*2283C>G (n.*2283C>G)
c.1789C>G
c.*686C>G (n.*686C>G)
c.2196C>G
c.2217C>G (p.Ser739=)
c.*1680C>G (n.*1680C>G)
c.*803C>G (n.*803C>G)
c.1190C>G
c.2094C>G (p.Ser698=)
c.2205C>G (p.Ser735=)
c.2259C>G (p.Ser753=)
n.461C>G
c.2148C>G (p.Ser716=)
n.582+9998G>C
c.1833C>G (p.Ser611=)
c.1830C>G (p.Ser610=)
n.2621C>G
n.2456C>G
n.476-11612G>C
n.600+9998G>C
3g.193658922C>TCA437441205OPA1c.2367C>T (p.Ser789=)
c.2202C>T (p.Ser734=)
c.2313C>T (p.Ser771=)
c.2256C>T (p.Ser752=)
c.2141C>T
c.*427C>T (n.*427C>T)
c.1884C>T (p.Ser628=)
c.*2283C>T (n.*2283C>T)
c.1789C>T
c.*686C>T (n.*686C>T)
c.2196C>T
c.2217C>T (p.Ser739=)
c.*1680C>T (n.*1680C>T)
c.*803C>T (n.*803C>T)
c.1190C>T
c.2094C>T (p.Ser698=)
c.2205C>T (p.Ser735=)
c.2259C>T (p.Ser753=)
n.461C>T
c.2148C>T (p.Ser716=)
n.582+9998G>A
c.1833C>T (p.Ser611=)
c.1830C>T (p.Ser610=)
n.2621C>T
n.2456C>T
n.476-11612G>A
n.600+9998G>A
3g.193658923A=CA1430265050OPA1c.2368A= (p.Ile790=)
c.2203A= (p.Ile735=)
c.2314A= (p.Ile772=)
c.2257A= (p.Ile753=)
c.2142A=
c.*428A= (n.*428A=)
c.1885A= (p.Ile629=)
c.*2284A= (n.*2284A=)
c.1790A=
c.*687A= (n.*687A=)
c.2197A=
c.2218A= (p.Ile740=)
c.*1681A= (n.*1681A=)
c.*804A= (n.*804A=)
c.1191A=
c.2095A= (p.Ile699=)
c.2206A= (p.Ile736=)
c.2260A= (p.Ile754=)
n.462A=
c.2149A= (p.Ile717=)
n.582+9997T=
c.1834A= (p.Ile612=)
c.1831A= (p.Ile611=)
n.2622A=
n.2457A=
n.476-11613T=
n.600+9997T=
3g.193658923A>CCA355791807OPA1c.2368A>C (p.Ile790Leu)
c.2203A>C (p.Ile735Leu)
c.2314A>C (p.Ile772Leu)
c.2257A>C (p.Ile753Leu)
c.2142A>C
c.*428A>C (n.*428A>C)
c.1885A>C (p.Ile629Leu)
c.*2284A>C (n.*2284A>C)
c.1790A>C
c.*687A>C (n.*687A>C)
c.2197A>C
c.2218A>C (p.Ile740Leu)
c.*1681A>C (n.*1681A>C)
c.*804A>C (n.*804A>C)
c.1191A>C
c.2095A>C (p.Ile699Leu)
c.2206A>C (p.Ile736Leu)
c.2260A>C (p.Ile754Leu)
n.462A>C
c.2149A>C (p.Ile717Leu)
n.582+9997T>G
c.1834A>C (p.Ile612Leu)
c.1831A>C (p.Ile611Leu)
n.2622A>C
n.2457A>C
n.476-11613T>G
n.600+9997T>G
3g.193658923A>GCA355791808OPA1c.2368A>G (p.Ile790Val)
c.2203A>G (p.Ile735Val)
c.2314A>G (p.Ile772Val)
c.2257A>G (p.Ile753Val)
c.2142A>G
c.*428A>G (n.*428A>G)
c.1885A>G (p.Ile629Val)
c.*2284A>G (n.*2284A>G)
c.1790A>G
c.*687A>G (n.*687A>G)
c.2197A>G
c.2218A>G (p.Ile740Val)
c.*1681A>G (n.*1681A>G)
c.*804A>G (n.*804A>G)
c.1191A>G
c.2095A>G (p.Ile699Val)
c.2206A>G (p.Ile736Val)
c.2260A>G (p.Ile754Val)
n.462A>G
c.2149A>G (p.Ile717Val)
n.582+9997T>C
c.1834A>G (p.Ile612Val)
c.1831A>G (p.Ile611Val)
n.2622A>G
n.2457A>G
n.476-11613T>C
n.600+9997T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.193658923A>TCA355791809OPA1c.2368A>T (p.Ile790Leu)
c.2203A>T (p.Ile735Leu)
c.2314A>T (p.Ile772Leu)
c.2257A>T (p.Ile753Leu)
c.2142A>T
c.*428A>T (n.*428A>T)
c.1885A>T (p.Ile629Leu)
c.*2284A>T (n.*2284A>T)
c.1790A>T
c.*687A>T (n.*687A>T)
c.2197A>T
c.2218A>T (p.Ile740Leu)
c.*1681A>T (n.*1681A>T)
c.*804A>T (n.*804A>T)
c.1191A>T
c.2095A>T (p.Ile699Leu)
c.2206A>T (p.Ile736Leu)
c.2260A>T (p.Ile754Leu)
n.462A>T
c.2149A>T (p.Ile717Leu)
n.582+9997T>A
c.1834A>T (p.Ile612Leu)
c.1831A>T (p.Ile611Leu)
n.2622A>T
n.2457A>T
n.476-11613T>A
n.600+9997T>A
 gnomAD v4
3g.193658924T>ACA355791810OPA1c.2369T>A (p.Ile790Lys)
c.2204T>A (p.Ile735Lys)
c.2315T>A (p.Ile772Lys)
c.2258T>A (p.Ile753Lys)
c.2143T>A
c.*429T>A (n.*429T>A)
c.1886T>A (p.Ile629Lys)
c.*2285T>A (n.*2285T>A)
c.1791T>A
c.*688T>A (n.*688T>A)
c.2198T>A
c.2219T>A (p.Ile740Lys)
c.*1682T>A (n.*1682T>A)
c.*805T>A (n.*805T>A)
c.1192T>A
c.2096T>A (p.Ile699Lys)
c.2207T>A (p.Ile736Lys)
c.2261T>A (p.Ile754Lys)
n.463T>A
c.2150T>A (p.Ile717Lys)
n.582+9996A>T
c.1835T>A (p.Ile612Lys)
c.1832T>A (p.Ile611Lys)
n.2623T>A
n.2458T>A
n.476-11614A>T
n.600+9996A>T
3g.193658924T>CCA355791811OPA1c.2369T>C (p.Ile790Thr)
c.2204T>C (p.Ile735Thr)
c.2315T>C (p.Ile772Thr)
c.2258T>C (p.Ile753Thr)
c.2143T>C
c.*429T>C (n.*429T>C)
c.1886T>C (p.Ile629Thr)
c.*2285T>C (n.*2285T>C)
c.1791T>C
c.*688T>C (n.*688T>C)
c.2198T>C
c.2219T>C (p.Ile740Thr)
c.*1682T>C (n.*1682T>C)
c.*805T>C (n.*805T>C)
c.1192T>C
c.2096T>C (p.Ile699Thr)
c.2207T>C (p.Ile736Thr)
c.2261T>C (p.Ile754Thr)
n.463T>C
c.2150T>C (p.Ile717Thr)
n.582+9996A>G
c.1835T>C (p.Ile612Thr)
c.1832T>C (p.Ile611Thr)
n.2623T>C
n.2458T>C
n.476-11614A>G
n.600+9996A>G
 dbSNP gnomAD v2 gnomAD v4
3g.193658924T>GCA355791812OPA1c.2369T>G (p.Ile790Arg)
c.2204T>G (p.Ile735Arg)
c.2315T>G (p.Ile772Arg)
c.2258T>G (p.Ile753Arg)
c.2143T>G
c.*429T>G (n.*429T>G)
c.1886T>G (p.Ile629Arg)
c.*2285T>G (n.*2285T>G)
c.1791T>G
c.*688T>G (n.*688T>G)
c.2198T>G
c.2219T>G (p.Ile740Arg)
c.*1682T>G (n.*1682T>G)
c.*805T>G (n.*805T>G)
c.1192T>G
c.2096T>G (p.Ile699Arg)
c.2207T>G (p.Ile736Arg)
c.2261T>G (p.Ile754Arg)
n.463T>G
c.2150T>G (p.Ile717Arg)
n.582+9996A>C
c.1835T>G (p.Ile612Arg)
c.1832T>G (p.Ile611Arg)
n.2623T>G
n.2458T>G
n.476-11614A>C
n.600+9996A>C
3g.193658924T=CA1430265052OPA1c.2369T= (p.Ile790=)
c.2204T= (p.Ile735=)
c.2315T= (p.Ile772=)
c.2258T= (p.Ile753=)
c.2143T=
c.*429T= (n.*429T=)
c.1886T= (p.Ile629=)
c.*2285T= (n.*2285T=)
c.1791T=
c.*688T= (n.*688T=)
c.2198T=
c.2219T= (p.Ile740=)
c.*1682T= (n.*1682T=)
c.*805T= (n.*805T=)
c.1192T=
c.2096T= (p.Ile699=)
c.2207T= (p.Ile736=)
c.2261T= (p.Ile754=)
n.463T=
c.2150T= (p.Ile717=)
n.582+9996A=
c.1835T= (p.Ile612=)
c.1832T= (p.Ile611=)
n.2623T=
n.2458T=
n.476-11614A=
n.600+9996A=
3g.193658925A=CA1430265055OPA1c.2370A= (p.Ile790=)
c.2205A= (p.Ile735=)
c.2316A= (p.Ile772=)
c.2259A= (p.Ile753=)
c.2144A=
c.*430A= (n.*430A=)
c.1887A= (p.Ile629=)
c.*2286A= (n.*2286A=)
c.1792A=
c.*689A= (n.*689A=)
c.2199A=
c.2220A= (p.Ile740=)
c.*1683A= (n.*1683A=)
c.*806A= (n.*806A=)
c.1193A=
c.2097A= (p.Ile699=)
c.2208A= (p.Ile736=)
c.2262A= (p.Ile754=)
n.464A=
c.2151A= (p.Ile717=)
n.582+9995T=
c.1836A= (p.Ile612=)
c.1833A= (p.Ile611=)
n.2624A=
n.2459A=
n.476-11615T=
n.600+9995T=
3g.193658925A>CCA437441215OPA1c.2370A>C (p.Ile790=)
c.2205A>C (p.Ile735=)
c.2316A>C (p.Ile772=)
c.2259A>C (p.Ile753=)
c.2144A>C
c.*430A>C (n.*430A>C)
c.1887A>C (p.Ile629=)
c.*2286A>C (n.*2286A>C)
c.1792A>C
c.*689A>C (n.*689A>C)
c.2199A>C
c.2220A>C (p.Ile740=)
c.*1683A>C (n.*1683A>C)
c.*806A>C (n.*806A>C)
c.1193A>C
c.2097A>C (p.Ile699=)
c.2208A>C (p.Ile736=)
c.2262A>C (p.Ile754=)
n.464A>C
c.2151A>C (p.Ile717=)
n.582+9995T>G
c.1836A>C (p.Ile612=)
c.1833A>C (p.Ile611=)
n.2624A>C
n.2459A>C
n.476-11615T>G
n.600+9995T>G
3g.193658925A>GCA355791813OPA1c.2370A>G (p.Ile790Met)
c.2205A>G (p.Ile735Met)
c.2316A>G (p.Ile772Met)
c.2259A>G (p.Ile753Met)
c.2144A>G
c.*430A>G (n.*430A>G)
c.1887A>G (p.Ile629Met)
c.*2286A>G (n.*2286A>G)
c.1792A>G
c.*689A>G (n.*689A>G)
c.2199A>G
c.2220A>G (p.Ile740Met)
c.*1683A>G (n.*1683A>G)
c.*806A>G (n.*806A>G)
c.1193A>G
c.2097A>G (p.Ile699Met)
c.2208A>G (p.Ile736Met)
c.2262A>G (p.Ile754Met)
n.464A>G
c.2151A>G (p.Ile717Met)
n.582+9995T>C
c.1836A>G (p.Ile612Met)
c.1833A>G (p.Ile611Met)
n.2624A>G
n.2459A>G
n.476-11615T>C
n.600+9995T>C
 dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.193658925A>TCA437441218OPA1c.2370A>T (p.Ile790=)
c.2205A>T (p.Ile735=)
c.2316A>T (p.Ile772=)
c.2259A>T (p.Ile753=)
c.2144A>T
c.*430A>T (n.*430A>T)
c.1887A>T (p.Ile629=)
c.*2286A>T (n.*2286A>T)
c.1792A>T
c.*689A>T (n.*689A>T)
c.2199A>T
c.2220A>T (p.Ile740=)
c.*1683A>T (n.*1683A>T)
c.*806A>T (n.*806A>T)
c.1193A>T
c.2097A>T (p.Ile699=)
c.2208A>T (p.Ile736=)
c.2262A>T (p.Ile754=)
n.464A>T
c.2151A>T (p.Ile717=)
n.582+9995T>A
c.1836A>T (p.Ile612=)
c.1833A>T (p.Ile611=)
n.2624A>T
n.2459A>T
n.476-11615T>A
n.600+9995T>A
3g.193658926T>ACA355791816OPA1c.2371T>A (p.Ser791Thr)
c.2206T>A (p.Ser736Thr)
c.2317T>A (p.Ser773Thr)
c.2260T>A (p.Ser754Thr)
c.2145T>A
c.*431T>A (n.*431T>A)
c.1888T>A (p.Ser630Thr)
c.*2287T>A (n.*2287T>A)
c.1793T>A
c.*690T>A (n.*690T>A)
c.2200T>A
c.2221T>A (p.Ser741Thr)
c.*1684T>A (n.*1684T>A)
c.*807T>A (n.*807T>A)
c.1194T>A
c.2098T>A (p.Ser700Thr)
c.2209T>A (p.Ser737Thr)
c.2263T>A (p.Ser755Thr)
n.465T>A
c.2152T>A (p.Ser718Thr)
n.582+9994A>T
c.1837T>A (p.Ser613Thr)
c.1834T>A (p.Ser612Thr)
n.2625T>A
n.2460T>A
n.476-11616A>T
n.600+9994A>T
 gnomAD v4
3g.193658926T>CCA355791815OPA1c.2371T>C (p.Ser791Pro)
c.2206T>C (p.Ser736Pro)
c.2317T>C (p.Ser773Pro)
c.2260T>C (p.Ser754Pro)
c.2145T>C
c.*431T>C (n.*431T>C)
c.1888T>C (p.Ser630Pro)
c.*2287T>C (n.*2287T>C)
c.1793T>C
c.*690T>C (n.*690T>C)
c.2200T>C
c.2221T>C (p.Ser741Pro)
c.*1684T>C (n.*1684T>C)
c.*807T>C (n.*807T>C)
c.1194T>C
c.2098T>C (p.Ser700Pro)
c.2209T>C (p.Ser737Pro)
c.2263T>C (p.Ser755Pro)
n.465T>C
c.2152T>C (p.Ser718Pro)
n.582+9994A>G
c.1837T>C (p.Ser613Pro)
c.1834T>C (p.Ser612Pro)
n.2625T>C
n.2460T>C
n.476-11616A>G
n.600+9994A>G
3g.193658926T>GCA355791814OPA1c.2371T>G (p.Ser791Ala)
c.2206T>G (p.Ser736Ala)
c.2317T>G (p.Ser773Ala)
c.2260T>G (p.Ser754Ala)
c.2145T>G
c.*431T>G (n.*431T>G)
c.1888T>G (p.Ser630Ala)
c.*2287T>G (n.*2287T>G)
c.1793T>G
c.*690T>G (n.*690T>G)
c.2200T>G
c.2221T>G (p.Ser741Ala)
c.*1684T>G (n.*1684T>G)
c.*807T>G (n.*807T>G)
c.1194T>G
c.2098T>G (p.Ser700Ala)
c.2209T>G (p.Ser737Ala)
c.2263T>G (p.Ser755Ala)
n.465T>G
c.2152T>G (p.Ser718Ala)
n.582+9994A>C
c.1837T>G (p.Ser613Ala)
c.1834T>G (p.Ser612Ala)
n.2625T>G
n.2460T>G
n.476-11616A>C
n.600+9994A>C
3g.193658927C>ACA355791817OPA1c.2372C>A (p.Ser791Tyr)
c.2207C>A (p.Ser736Tyr)
c.2318C>A (p.Ser773Tyr)
c.2261C>A (p.Ser754Tyr)
c.2146C>A
c.*432C>A (n.*432C>A)
c.1889C>A (p.Ser630Tyr)
c.*2288C>A (n.*2288C>A)
c.1794C>A
c.*691C>A (n.*691C>A)
c.2201C>A
c.2222C>A (p.Ser741Tyr)
c.*1685C>A (n.*1685C>A)
c.*808C>A (n.*808C>A)
c.1195C>A
c.2099C>A (p.Ser700Tyr)
c.2210C>A (p.Ser737Tyr)
c.2264C>A (p.Ser755Tyr)
n.466C>A
c.2153C>A (p.Ser718Tyr)
n.582+9993G>T
c.1838C>A (p.Ser613Tyr)
c.1835C>A (p.Ser612Tyr)
n.2626C>A
n.2461C>A
n.476-11617G>T
n.600+9993G>T
3g.193658927C>GCA355791818OPA1c.2372C>G (p.Ser791Cys)
c.2207C>G (p.Ser736Cys)
c.2318C>G (p.Ser773Cys)
c.2261C>G (p.Ser754Cys)
c.2146C>G
c.*432C>G (n.*432C>G)
c.1889C>G (p.Ser630Cys)
c.*2288C>G (n.*2288C>G)
c.1794C>G
c.*691C>G (n.*691C>G)
c.2201C>G
c.2222C>G (p.Ser741Cys)
c.*1685C>G (n.*1685C>G)
c.*808C>G (n.*808C>G)
c.1195C>G
c.2099C>G (p.Ser700Cys)
c.2210C>G (p.Ser737Cys)
c.2264C>G (p.Ser755Cys)
n.466C>G
c.2153C>G (p.Ser718Cys)
n.582+9993G>C
c.1838C>G (p.Ser613Cys)
c.1835C>G (p.Ser612Cys)
n.2626C>G
n.2461C>G
n.476-11617G>C
n.600+9993G>C
 gnomAD v4
3g.193658927C>TCA355791819OPA1c.2372C>T (p.Ser791Phe)
c.2207C>T (p.Ser736Phe)
c.2318C>T (p.Ser773Phe)
c.2261C>T (p.Ser754Phe)
c.2146C>T
c.*432C>T (n.*432C>T)
c.1889C>T (p.Ser630Phe)
c.*2288C>T (n.*2288C>T)
c.1794C>T
c.*691C>T (n.*691C>T)
c.2201C>T
c.2222C>T (p.Ser741Phe)
c.*1685C>T (n.*1685C>T)
c.*808C>T (n.*808C>T)
c.1195C>T
c.2099C>T (p.Ser700Phe)
c.2210C>T (p.Ser737Phe)
c.2264C>T (p.Ser755Phe)
n.466C>T
c.2153C>T (p.Ser718Phe)
n.582+9993G>A
c.1838C>T (p.Ser613Phe)
c.1835C>T (p.Ser612Phe)
n.2626C>T
n.2461C>T
n.476-11617G>A
n.600+9993G>A
 COSMIC
3g.193658928T>ACA437441228OPA1c.2373T>A (p.Ser791=)
c.2208T>A (p.Ser736=)
c.2319T>A (p.Ser773=)
c.2262T>A (p.Ser754=)
c.2147T>A
c.*433T>A (n.*433T>A)
c.1890T>A (p.Ser630=)
c.*2289T>A (n.*2289T>A)
c.1795T>A
c.*692T>A (n.*692T>A)
c.2202T>A
c.2223T>A (p.Ser741=)
c.*1686T>A (n.*1686T>A)
c.*809T>A (n.*809T>A)
c.1196T>A
c.2100T>A (p.Ser700=)
c.2211T>A (p.Ser737=)
c.2265T>A (p.Ser755=)
n.467T>A
c.2154T>A (p.Ser718=)
n.582+9992A>T
c.1839T>A (p.Ser613=)
c.1836T>A (p.Ser612=)
n.2627T>A
n.2462T>A
n.476-11618A>T
n.600+9992A>T
3g.193658928T>CCA437441230OPA1c.2373T>C (p.Ser791=)
c.2208T>C (p.Ser736=)
c.2319T>C (p.Ser773=)
c.2262T>C (p.Ser754=)
c.2147T>C
c.*433T>C (n.*433T>C)
c.1890T>C (p.Ser630=)
c.*2289T>C (n.*2289T>C)
c.1795T>C
c.*692T>C (n.*692T>C)
c.2202T>C
c.2223T>C (p.Ser741=)
c.*1686T>C (n.*1686T>C)
c.*809T>C (n.*809T>C)
c.1196T>C
c.2100T>C (p.Ser700=)
c.2211T>C (p.Ser737=)
c.2265T>C (p.Ser755=)
n.467T>C
c.2154T>C (p.Ser718=)
n.582+9992A>G
c.1839T>C (p.Ser613=)
c.1836T>C (p.Ser612=)
n.2627T>C
n.2462T>C
n.476-11618A>G
n.600+9992A>G
3g.193658928T>GCA437441231OPA1c.2373T>G (p.Ser791=)
c.2208T>G (p.Ser736=)
c.2319T>G (p.Ser773=)
c.2262T>G (p.Ser754=)
c.2147T>G
c.*433T>G (n.*433T>G)
c.1890T>G (p.Ser630=)
c.*2289T>G (n.*2289T>G)
c.1795T>G
c.*692T>G (n.*692T>G)
c.2202T>G
c.2223T>G (p.Ser741=)
c.*1686T>G (n.*1686T>G)
c.*809T>G (n.*809T>G)
c.1196T>G
c.2100T>G (p.Ser700=)
c.2211T>G (p.Ser737=)
c.2265T>G (p.Ser755=)
n.467T>G
c.2154T>G (p.Ser718=)
n.582+9992A>C
c.1839T>G (p.Ser613=)
c.1836T>G (p.Ser612=)
n.2627T>G
n.2462T>G
n.476-11618A>C
n.600+9992A>C
3g.193658929G>ACA355791820OPA1c.2374G>A (p.Asp792Asn)
c.2209G>A (p.Asp737Asn)
c.2320G>A (p.Asp774Asn)
c.2263G>A (p.Asp755Asn)
c.2148G>A
c.*434G>A (n.*434G>A)
c.1891G>A (p.Asp631Asn)
c.*2290G>A (n.*2290G>A)
c.1796G>A
c.*693G>A (n.*693G>A)
c.2203G>A
c.2224G>A (p.Asp742Asn)
c.*1687G>A (n.*1687G>A)
c.*810G>A (n.*810G>A)
c.1197G>A
c.2101G>A (p.Asp701Asn)
c.2212G>A (p.Asp738Asn)
c.2266G>A (p.Asp756Asn)
n.468G>A
c.2155G>A (p.Asp719Asn)
n.582+9991C>T
c.1840G>A (p.Asp614Asn)
c.1837G>A (p.Asp613Asn)
n.2628G>A
n.2463G>A
n.476-11619C>T
n.600+9991C>T
3g.193658929G>CCA90546574OPA1c.2374G>C (p.Asp792His)
c.2209G>C (p.Asp737His)
c.2320G>C (p.Asp774His)
c.2263G>C (p.Asp755His)
c.2148G>C
c.*434G>C (n.*434G>C)
c.1891G>C (p.Asp631His)
c.*2290G>C (n.*2290G>C)
c.1796G>C
c.*693G>C (n.*693G>C)
c.2203G>C
c.2224G>C (p.Asp742His)
c.*1687G>C (n.*1687G>C)
c.*810G>C (n.*810G>C)
c.1197G>C
c.2101G>C (p.Asp701His)
c.2212G>C (p.Asp738His)
c.2266G>C (p.Asp756His)
n.468G>C
c.2155G>C (p.Asp719His)
n.582+9991C>G
c.1840G>C (p.Asp614His)
c.1837G>C (p.Asp613His)
n.2628G>C
n.2463G>C
n.476-11619C>G
n.600+9991C>G
 dbSNP gnomAD v4
3g.193658929G=CA1430265059OPA1c.2374G= (p.Asp792=)
c.2209G= (p.Asp737=)
c.2320G= (p.Asp774=)
c.2263G= (p.Asp755=)
c.2148G=
c.*434G= (n.*434G=)
c.1891G= (p.Asp631=)
c.*2290G= (n.*2290G=)
c.1796G=
c.*693G= (n.*693G=)
c.2203G=
c.2224G= (p.Asp742=)
c.*1687G= (n.*1687G=)
c.*810G= (n.*810G=)
c.1197G=
c.2101G= (p.Asp701=)
c.2212G= (p.Asp738=)
c.2266G= (p.Asp756=)
n.468G=
c.2155G= (p.Asp719=)
n.582+9991C=
c.1840G= (p.Asp614=)
c.1837G= (p.Asp613=)
n.2628G=
n.2463G=
n.476-11619C=
n.600+9991C=
3g.193658929G>TCA355791821OPA1c.2374G>T (p.Asp792Tyr)
c.2209G>T (p.Asp737Tyr)
c.2320G>T (p.Asp774Tyr)
c.2263G>T (p.Asp755Tyr)
c.2148G>T
c.*434G>T (n.*434G>T)
c.1891G>T (p.Asp631Tyr)
c.*2290G>T (n.*2290G>T)
c.1796G>T
c.*693G>T (n.*693G>T)
c.2203G>T
c.2224G>T (p.Asp742Tyr)
c.*1687G>T (n.*1687G>T)
c.*810G>T (n.*810G>T)
c.1197G>T
c.2101G>T (p.Asp701Tyr)
c.2212G>T (p.Asp738Tyr)
c.2266G>T (p.Asp756Tyr)
n.468G>T
c.2155G>T (p.Asp719Tyr)
n.582+9991C>A
c.1840G>T (p.Asp614Tyr)
c.1837G>T (p.Asp613Tyr)
n.2628G>T
n.2463G>T
n.476-11619C>A
n.600+9991C>A
3g.193658930A>CCA355791822OPA1c.2375A>C (p.Asp792Ala)
c.2210A>C (p.Asp737Ala)
c.2321A>C (p.Asp774Ala)
c.2264A>C (p.Asp755Ala)
c.2149A>C
c.*435A>C (n.*435A>C)
c.1892A>C (p.Asp631Ala)
c.*2291A>C (n.*2291A>C)
c.1797A>C
c.*694A>C (n.*694A>C)
c.2204A>C
c.2225A>C (p.Asp742Ala)
c.*1688A>C (n.*1688A>C)
c.*811A>C (n.*811A>C)
c.1198A>C
c.2102A>C (p.Asp701Ala)
c.2213A>C (p.Asp738Ala)
c.2267A>C (p.Asp756Ala)
n.469A>C
c.2156A>C (p.Asp719Ala)
n.582+9990T>G
c.1841A>C (p.Asp614Ala)
c.1838A>C (p.Asp613Ala)
n.2629A>C
n.2464A>C
n.476-11620T>G
n.600+9990T>G
3g.193658930A>GCA355791823OPA1c.2375A>G (p.Asp792Gly)
c.2210A>G (p.Asp737Gly)
c.2321A>G (p.Asp774Gly)
c.2264A>G (p.Asp755Gly)
c.2149A>G
c.*435A>G (n.*435A>G)
c.1892A>G (p.Asp631Gly)
c.*2291A>G (n.*2291A>G)
c.1797A>G
c.*694A>G (n.*694A>G)
c.2204A>G
c.2225A>G (p.Asp742Gly)
c.*1688A>G (n.*1688A>G)
c.*811A>G (n.*811A>G)
c.1198A>G
c.2102A>G (p.Asp701Gly)
c.2213A>G (p.Asp738Gly)
c.2267A>G (p.Asp756Gly)
n.469A>G
c.2156A>G (p.Asp719Gly)
n.582+9990T>C
c.1841A>G (p.Asp614Gly)
c.1838A>G (p.Asp613Gly)
n.2629A>G
n.2464A>G
n.476-11620T>C
n.600+9990T>C
3g.193658930A>TCA355791824OPA1c.2375A>T (p.Asp792Val)
c.2210A>T (p.Asp737Val)
c.2321A>T (p.Asp774Val)
c.2264A>T (p.Asp755Val)
c.2149A>T
c.*435A>T (n.*435A>T)
c.1892A>T (p.Asp631Val)
c.*2291A>T (n.*2291A>T)
c.1797A>T
c.*694A>T (n.*694A>T)
c.2204A>T
c.2225A>T (p.Asp742Val)
c.*1688A>T (n.*1688A>T)
c.*811A>T (n.*811A>T)
c.1198A>T
c.2102A>T (p.Asp701Val)
c.2213A>T (p.Asp738Val)
c.2267A>T (p.Asp756Val)
n.469A>T
c.2156A>T (p.Asp719Val)
n.582+9990T>A
c.1841A>T (p.Asp614Val)
c.1838A>T (p.Asp613Val)
n.2629A>T
n.2464A>T
n.476-11620T>A
n.600+9990T>A
3g.193658931T>ACA355791825OPA1c.2376T>A (p.Asp792Glu)
c.2211T>A (p.Asp737Glu)
c.2322T>A (p.Asp774Glu)
c.2265T>A (p.Asp755Glu)
c.2150T>A
c.*436T>A (n.*436T>A)
c.1893T>A (p.Asp631Glu)
c.*2292T>A (n.*2292T>A)
c.1798T>A
c.*695T>A (n.*695T>A)
c.2205T>A
c.2226T>A (p.Asp742Glu)
c.*1689T>A (n.*1689T>A)
c.*812T>A (n.*812T>A)
c.1199T>A
c.2103T>A (p.Asp701Glu)
c.2214T>A (p.Asp738Glu)
c.2268T>A (p.Asp756Glu)
n.470T>A
c.2157T>A (p.Asp719Glu)
n.582+9989A>T
c.1842T>A (p.Asp614Glu)
c.1839T>A (p.Asp613Glu)
n.2630T>A
n.2465T>A
n.476-11621A>T
n.600+9989A>T
3g.193658931T>CCA437441244OPA1c.2376T>C (p.Asp792=)
c.2211T>C (p.Asp737=)
c.2322T>C (p.Asp774=)
c.2265T>C (p.Asp755=)
c.2150T>C
c.*436T>C (n.*436T>C)
c.1893T>C (p.Asp631=)
c.*2292T>C (n.*2292T>C)
c.1798T>C
c.*695T>C (n.*695T>C)
c.2205T>C
c.2226T>C (p.Asp742=)
c.*1689T>C (n.*1689T>C)
c.*812T>C (n.*812T>C)
c.1199T>C
c.2103T>C (p.Asp701=)
c.2214T>C (p.Asp738=)
c.2268T>C (p.Asp756=)
n.470T>C
c.2157T>C (p.Asp719=)
n.582+9989A>G
c.1842T>C (p.Asp614=)
c.1839T>C (p.Asp613=)
n.2630T>C
n.2465T>C
n.476-11621A>G
n.600+9989A>G
3g.193658931T>GCA355791826OPA1c.2376T>G (p.Asp792Glu)
c.2211T>G (p.Asp737Glu)
c.2322T>G (p.Asp774Glu)
c.2265T>G (p.Asp755Glu)
c.2150T>G
c.*436T>G (n.*436T>G)
c.1893T>G (p.Asp631Glu)
c.*2292T>G (n.*2292T>G)
c.1798T>G
c.*695T>G (n.*695T>G)
c.2205T>G
c.2226T>G (p.Asp742Glu)
c.*1689T>G (n.*1689T>G)
c.*812T>G (n.*812T>G)
c.1199T>G
c.2103T>G (p.Asp701Glu)
c.2214T>G (p.Asp738Glu)
c.2268T>G (p.Asp756Glu)
n.470T>G
c.2157T>G (p.Asp719Glu)
n.582+9989A>C
c.1842T>G (p.Asp614Glu)
c.1839T>G (p.Asp613Glu)
n.2630T>G
n.2465T>G
n.476-11621A>C
n.600+9989A>C
3g.193658932A>CCA355791827OPA1c.2377A>C (p.Lys793Gln)
c.2212A>C (p.Lys738Gln)
c.2323A>C (p.Lys775Gln)
c.2266A>C (p.Lys756Gln)
c.2151A>C
c.*437A>C (n.*437A>C)
c.1894A>C (p.Lys632Gln)
c.*2293A>C (n.*2293A>C)
c.1799A>C
c.*696A>C (n.*696A>C)
c.2206A>C
c.2227A>C (p.Lys743Gln)
c.*1690A>C (n.*1690A>C)
c.*813A>C (n.*813A>C)
c.1200A>C
c.2104A>C (p.Lys702Gln)
c.2215A>C (p.Lys739Gln)
c.2269A>C (p.Lys757Gln)
n.471A>C
c.2158A>C (p.Lys720Gln)
n.582+9988T>G
c.1843A>C (p.Lys615Gln)
c.1840A>C (p.Lys614Gln)
n.2631A>C
n.2466A>C
n.476-11622T>G
n.600+9988T>G
3g.193658932A>GCA355791828OPA1c.2377A>G (p.Lys793Glu)
c.2212A>G (p.Lys738Glu)
c.2323A>G (p.Lys775Glu)
c.2266A>G (p.Lys756Glu)
c.2151A>G
c.*437A>G (n.*437A>G)
c.1894A>G (p.Lys632Glu)
c.*2293A>G (n.*2293A>G)
c.1799A>G
c.*696A>G (n.*696A>G)
c.2206A>G
c.2227A>G (p.Lys743Glu)
c.*1690A>G (n.*1690A>G)
c.*813A>G (n.*813A>G)
c.1200A>G
c.2104A>G (p.Lys702Glu)
c.2215A>G (p.Lys739Glu)
c.2269A>G (p.Lys757Glu)
n.471A>G
c.2158A>G (p.Lys720Glu)
n.582+9988T>C
c.1843A>G (p.Lys615Glu)
c.1840A>G (p.Lys614Glu)
n.2631A>G
n.2466A>G
n.476-11622T>C
n.600+9988T>C
3g.193658932A>TCA355791829OPA1c.2377A>T (p.Lys793Ter)
c.2212A>T (p.Lys738Ter)
c.2323A>T (p.Lys775Ter)
c.2266A>T (p.Lys756Ter)
c.2151A>T
c.*437A>T (n.*437A>T)
c.1894A>T (p.Lys632Ter)
c.*2293A>T (n.*2293A>T)
c.1799A>T
c.*696A>T (n.*696A>T)
c.2206A>T
c.2227A>T (p.Lys743Ter)
c.*1690A>T (n.*1690A>T)
c.*813A>T (n.*813A>T)
c.1200A>T
c.2104A>T (p.Lys702Ter)
c.2215A>T (p.Lys739Ter)
c.2269A>T (p.Lys757Ter)
n.471A>T
c.2158A>T (p.Lys720Ter)
n.582+9988T>A
c.1843A>T (p.Lys615Ter)
c.1840A>T (p.Lys614Ter)
n.2631A>T
n.2466A>T
n.476-11622T>A
n.600+9988T>A
3g.193658933A>CCA355791832OPA1c.2378A>C (p.Lys793Thr)
c.2213A>C (p.Lys738Thr)
c.2324A>C (p.Lys775Thr)
c.2267A>C (p.Lys756Thr)
c.2152A>C
c.*438A>C (n.*438A>C)
c.1895A>C (p.Lys632Thr)
c.*2294A>C (n.*2294A>C)
c.1800A>C
c.*697A>C (n.*697A>C)
c.2207A>C
c.2228A>C (p.Lys743Thr)
c.*1691A>C (n.*1691A>C)
c.*814A>C (n.*814A>C)
c.1201A>C
c.2105A>C (p.Lys702Thr)
c.2216A>C (p.Lys739Thr)
c.2270A>C (p.Lys757Thr)
n.472A>C
c.2159A>C (p.Lys720Thr)
n.582+9987T>G
c.1844A>C (p.Lys615Thr)
c.1841A>C (p.Lys614Thr)
n.2632A>C
n.2467A>C
n.476-11623T>G
n.600+9987T>G
3g.193658933A>GCA355791831OPA1c.2378A>G (p.Lys793Arg)
c.2213A>G (p.Lys738Arg)
c.2324A>G (p.Lys775Arg)
c.2267A>G (p.Lys756Arg)
c.2152A>G
c.*438A>G (n.*438A>G)
c.1895A>G (p.Lys632Arg)
c.*2294A>G (n.*2294A>G)
c.1800A>G
c.*697A>G (n.*697A>G)
c.2207A>G
c.2228A>G (p.Lys743Arg)
c.*1691A>G (n.*1691A>G)
c.*814A>G (n.*814A>G)
c.1201A>G
c.2105A>G (p.Lys702Arg)
c.2216A>G (p.Lys739Arg)
c.2270A>G (p.Lys757Arg)
n.472A>G
c.2159A>G (p.Lys720Arg)
n.582+9987T>C
c.1844A>G (p.Lys615Arg)
c.1841A>G (p.Lys614Arg)
n.2632A>G
n.2467A>G
n.476-11623T>C
n.600+9987T>C
3g.193658933A>TCA355791830OPA1c.2378A>T (p.Lys793Ile)
c.2213A>T (p.Lys738Ile)
c.2324A>T (p.Lys775Ile)
c.2267A>T (p.Lys756Ile)
c.2152A>T
c.*438A>T (n.*438A>T)
c.1895A>T (p.Lys632Ile)
c.*2294A>T (n.*2294A>T)
c.1800A>T
c.*697A>T (n.*697A>T)
c.2207A>T
c.2228A>T (p.Lys743Ile)
c.*1691A>T (n.*1691A>T)
c.*814A>T (n.*814A>T)
c.1201A>T
c.2105A>T (p.Lys702Ile)
c.2216A>T (p.Lys739Ile)
c.2270A>T (p.Lys757Ile)
n.472A>T
c.2159A>T (p.Lys720Ile)
n.582+9987T>A
c.1844A>T (p.Lys615Ile)
c.1841A>T (p.Lys614Ile)
n.2632A>T
n.2467A>T
n.476-11623T>A
n.600+9987T>A
3g.193658934A=CA1430265064OPA1c.2379A= (p.Lys793=)
c.2214A= (p.Lys738=)
c.2325A= (p.Lys775=)
c.2268A= (p.Lys756=)
c.2153A=
c.*439A= (n.*439A=)
c.1896A= (p.Lys632=)
c.*2295A= (n.*2295A=)
c.1801A=
c.*698A= (n.*698A=)
c.2208A=
c.2229A= (p.Lys743=)
c.*1692A= (n.*1692A=)
c.*815A= (n.*815A=)
c.1202A=
c.2106A= (p.Lys702=)
c.2217A= (p.Lys739=)
c.2271A= (p.Lys757=)
n.473A=
c.2160A= (p.Lys720=)
n.582+9986T=
c.1845A= (p.Lys615=)
c.1842A= (p.Lys614=)
n.2633A=
n.2468A=
n.476-11624T=
n.600+9986T=
3g.193658934A>CCA355791833OPA1c.2379A>C (p.Lys793Asn)
c.2214A>C (p.Lys738Asn)
c.2325A>C (p.Lys775Asn)
c.2268A>C (p.Lys756Asn)
c.2153A>C
c.*439A>C (n.*439A>C)
c.1896A>C (p.Lys632Asn)
c.*2295A>C (n.*2295A>C)
c.1801A>C
c.*698A>C (n.*698A>C)
c.2208A>C
c.2229A>C (p.Lys743Asn)
c.*1692A>C (n.*1692A>C)
c.*815A>C (n.*815A>C)
c.1202A>C
c.2106A>C (p.Lys702Asn)
c.2217A>C (p.Lys739Asn)
c.2271A>C (p.Lys757Asn)
n.473A>C
c.2160A>C (p.Lys720Asn)
n.582+9986T>G
c.1845A>C (p.Lys615Asn)
c.1842A>C (p.Lys614Asn)
n.2633A>C
n.2468A>C
n.476-11624T>G
n.600+9986T>G
3g.193658934A>GCA437441253OPA1c.2379A>G (p.Lys793=)
c.2214A>G (p.Lys738=)
c.2325A>G (p.Lys775=)
c.2268A>G (p.Lys756=)
c.2153A>G
c.*439A>G (n.*439A>G)
c.1896A>G (p.Lys632=)
c.*2295A>G (n.*2295A>G)
c.1801A>G
c.*698A>G (n.*698A>G)
c.2208A>G
c.2229A>G (p.Lys743=)
c.*1692A>G (n.*1692A>G)
c.*815A>G (n.*815A>G)
c.1202A>G
c.2106A>G (p.Lys702=)
c.2217A>G (p.Lys739=)
c.2271A>G (p.Lys757=)
n.473A>G
c.2160A>G (p.Lys720=)
n.582+9986T>C
c.1845A>G (p.Lys615=)
c.1842A>G (p.Lys614=)
n.2633A>G
n.2468A>G
n.476-11624T>C
n.600+9986T>C
 ClinVar dbSNP gnomAD v4
3g.193658934A>TCA355791834OPA1c.2379A>T (p.Lys793Asn)
c.2214A>T (p.Lys738Asn)
c.2325A>T (p.Lys775Asn)
c.2268A>T (p.Lys756Asn)
c.2153A>T
c.*439A>T (n.*439A>T)
c.1896A>T (p.Lys632Asn)
c.*2295A>T (n.*2295A>T)
c.1801A>T
c.*698A>T (n.*698A>T)
c.2208A>T
c.2229A>T (p.Lys743Asn)
c.*1692A>T (n.*1692A>T)
c.*815A>T (n.*815A>T)
c.1202A>T
c.2106A>T (p.Lys702Asn)
c.2217A>T (p.Lys739Asn)
c.2271A>T (p.Lys757Asn)
n.473A>T
c.2160A>T (p.Lys720Asn)
n.582+9986T>A
c.1845A>T (p.Lys615Asn)
c.1842A>T (p.Lys614Asn)
n.2633A>T
n.2468A>T
n.476-11624T>A
n.600+9986T>A
3g.193658935C>ACA355791835OPA1c.2380C>A (p.Gln794Lys)
c.2215C>A (p.Gln739Lys)
c.2326C>A (p.Gln776Lys)
c.2269C>A (p.Gln757Lys)
c.2154C>A
c.*440C>A (n.*440C>A)
c.1897C>A (p.Gln633Lys)
c.*2296C>A (n.*2296C>A)
c.1802C>A
c.*699C>A (n.*699C>A)
c.2209C>A
c.2230C>A (p.Gln744Lys)
c.*1693C>A (n.*1693C>A)
c.*816C>A (n.*816C>A)
c.1203C>A
c.2107C>A (p.Gln703Lys)
c.2218C>A (p.Gln740Lys)
c.2272C>A (p.Gln758Lys)
n.474C>A
c.2161C>A (p.Gln721Lys)
n.582+9985G>T
c.1846C>A (p.Gln616Lys)
c.1843C>A (p.Gln615Lys)
n.2634C>A
n.2469C>A
n.476-11625G>T
n.600+9985G>T
3g.193658935C>GCA355791836OPA1c.2380C>G (p.Gln794Glu)
c.2215C>G (p.Gln739Glu)
c.2326C>G (p.Gln776Glu)
c.2269C>G (p.Gln757Glu)
c.2154C>G
c.*440C>G (n.*440C>G)
c.1897C>G (p.Gln633Glu)
c.*2296C>G (n.*2296C>G)
c.1802C>G
c.*699C>G (n.*699C>G)
c.2209C>G
c.2230C>G (p.Gln744Glu)
c.*1693C>G (n.*1693C>G)
c.*816C>G (n.*816C>G)
c.1203C>G
c.2107C>G (p.Gln703Glu)
c.2218C>G (p.Gln740Glu)
c.2272C>G (p.Gln758Glu)
n.474C>G
c.2161C>G (p.Gln721Glu)
n.582+9985G>C
c.1846C>G (p.Gln616Glu)
c.1843C>G (p.Gln615Glu)
n.2634C>G
n.2469C>G
n.476-11625G>C
n.600+9985G>C
3g.193658935C>TCA355791837OPA1c.2380C>T (p.Gln794Ter)
c.2215C>T (p.Gln739Ter)
c.2326C>T (p.Gln776Ter)
c.2269C>T (p.Gln757Ter)
c.2154C>T
c.*440C>T (n.*440C>T)
c.1897C>T (p.Gln633Ter)
c.*2296C>T (n.*2296C>T)
c.1802C>T
c.*699C>T (n.*699C>T)
c.2209C>T
c.2230C>T (p.Gln744Ter)
c.*1693C>T (n.*1693C>T)
c.*816C>T (n.*816C>T)
c.1203C>T
c.2107C>T (p.Gln703Ter)
c.2218C>T (p.Gln740Ter)
c.2272C>T (p.Gln758Ter)
n.474C>T
c.2161C>T (p.Gln721Ter)
n.582+9985G>A
c.1846C>T (p.Gln616Ter)
c.1843C>T (p.Gln615Ter)
n.2634C>T
n.2469C>T
n.476-11625G>A
n.600+9985G>A
3g.193658936A>CCA355791838OPA1c.2381A>C (p.Gln794Pro)
c.2216A>C (p.Gln739Pro)
c.2327A>C (p.Gln776Pro)
c.2270A>C (p.Gln757Pro)
c.2155A>C
c.*441A>C (n.*441A>C)
c.1898A>C (p.Gln633Pro)
c.*2297A>C (n.*2297A>C)
c.1803A>C
c.*700A>C (n.*700A>C)
c.2210A>C
c.2231A>C (p.Gln744Pro)
c.*1694A>C (n.*1694A>C)
c.*817A>C (n.*817A>C)
c.1204A>C
c.2108A>C (p.Gln703Pro)
c.2219A>C (p.Gln740Pro)
c.2273A>C (p.Gln758Pro)
n.475A>C
c.2162A>C (p.Gln721Pro)
n.582+9984T>G
c.1847A>C (p.Gln616Pro)
c.1844A>C (p.Gln615Pro)
n.2635A>C
n.2470A>C
n.476-11626T>G
n.600+9984T>G
3g.193658936A>GCA355791839OPA1c.2381A>G (p.Gln794Arg)
c.2216A>G (p.Gln739Arg)
c.2327A>G (p.Gln776Arg)
c.2270A>G (p.Gln757Arg)
c.2155A>G
c.*441A>G (n.*441A>G)
c.1898A>G (p.Gln633Arg)
c.*2297A>G (n.*2297A>G)
c.1803A>G
c.*700A>G (n.*700A>G)
c.2210A>G
c.2231A>G (p.Gln744Arg)
c.*1694A>G (n.*1694A>G)
c.*817A>G (n.*817A>G)
c.1204A>G
c.2108A>G (p.Gln703Arg)
c.2219A>G (p.Gln740Arg)
c.2273A>G (p.Gln758Arg)
n.475A>G
c.2162A>G (p.Gln721Arg)
n.582+9984T>C
c.1847A>G (p.Gln616Arg)
c.1844A>G (p.Gln615Arg)
n.2635A>G
n.2470A>G
n.476-11626T>C
n.600+9984T>C
3g.193658936A>TCA355791840OPA1c.2381A>T (p.Gln794Leu)
c.2216A>T (p.Gln739Leu)
c.2327A>T (p.Gln776Leu)
c.2270A>T (p.Gln757Leu)
c.2155A>T
c.*441A>T (n.*441A>T)
c.1898A>T (p.Gln633Leu)
c.*2297A>T (n.*2297A>T)
c.1803A>T
c.*700A>T (n.*700A>T)
c.2210A>T
c.2231A>T (p.Gln744Leu)
c.*1694A>T (n.*1694A>T)
c.*817A>T (n.*817A>T)
c.1204A>T
c.2108A>T (p.Gln703Leu)
c.2219A>T (p.Gln740Leu)
c.2273A>T (p.Gln758Leu)
n.475A>T
c.2162A>T (p.Gln721Leu)
n.582+9984T>A
c.1847A>T (p.Gln616Leu)
c.1844A>T (p.Gln615Leu)
n.2635A>T
n.2470A>T
n.476-11626T>A
n.600+9984T>A
3g.193658937G>ACA437441263OPA1c.2382G>A (p.Gln794=)
c.2217G>A (p.Gln739=)
c.2328G>A (p.Gln776=)
c.2271G>A (p.Gln757=)
c.2156G>A
c.*442G>A (n.*442G>A)
c.1899G>A (p.Gln633=)
c.*2298G>A (n.*2298G>A)
c.1804G>A
c.*701G>A (n.*701G>A)
c.2211G>A
c.2232G>A (p.Gln744=)
c.*1695G>A (n.*1695G>A)
c.*818G>A (n.*818G>A)
c.1205G>A
c.2109G>A (p.Gln703=)
c.2220G>A (p.Gln740=)
c.2274G>A (p.Gln758=)
n.476G>A
c.2163G>A (p.Gln721=)
n.582+9983C>T
c.1848G>A (p.Gln616=)
c.1845G>A (p.Gln615=)
n.2636G>A
n.2471G>A
n.476-11627C>T
n.600+9983C>T
 ClinVar dbSNP gnomAD v4
3g.193658937G>CCA355791841OPA1c.2382G>C (p.Gln794His)
c.2217G>C (p.Gln739His)
c.2328G>C (p.Gln776His)
c.2271G>C (p.Gln757His)
c.2156G>C
c.*442G>C (n.*442G>C)
c.1899G>C (p.Gln633His)
c.*2298G>C (n.*2298G>C)
c.1804G>C
c.*701G>C (n.*701G>C)
c.2211G>C
c.2232G>C (p.Gln744His)
c.*1695G>C (n.*1695G>C)
c.*818G>C (n.*818G>C)
c.1205G>C
c.2109G>C (p.Gln703His)
c.2220G>C (p.Gln740His)
c.2274G>C (p.Gln758His)
n.476G>C
c.2163G>C (p.Gln721His)
n.582+9983C>G
c.1848G>C (p.Gln616His)
c.1845G>C (p.Gln615His)
n.2636G>C
n.2471G>C
n.476-11627C>G
n.600+9983C>G
3g.193658937G=CA1430265069OPA1c.2382G= (p.Gln794=)
c.2217G= (p.Gln739=)
c.2328G= (p.Gln776=)
c.2271G= (p.Gln757=)
c.2156G=
c.*442G= (n.*442G=)
c.1899G= (p.Gln633=)
c.*2298G= (n.*2298G=)
c.1804G=
c.*701G= (n.*701G=)
c.2211G=
c.2232G= (p.Gln744=)
c.*1695G= (n.*1695G=)
c.*818G= (n.*818G=)
c.1205G=
c.2109G= (p.Gln703=)
c.2220G= (p.Gln740=)
c.2274G= (p.Gln758=)
n.476G=
c.2163G= (p.Gln721=)
n.582+9983C=
c.1848G= (p.Gln616=)
c.1845G= (p.Gln615=)
n.2636G=
n.2471G=
n.476-11627C=
n.600+9983C=
3g.193658937G>TCA355791842OPA1c.2382G>T (p.Gln794His)
c.2217G>T (p.Gln739His)
c.2328G>T (p.Gln776His)
c.2271G>T (p.Gln757His)
c.2156G>T
c.*442G>T (n.*442G>T)
c.1899G>T (p.Gln633His)
c.*2298G>T (n.*2298G>T)
c.1804G>T
c.*701G>T (n.*701G>T)
c.2211G>T
c.2232G>T (p.Gln744His)
c.*1695G>T (n.*1695G>T)
c.*818G>T (n.*818G>T)
c.1205G>T
c.2109G>T (p.Gln703His)
c.2220G>T (p.Gln740His)
c.2274G>T (p.Gln758His)
n.476G>T
c.2163G>T (p.Gln721His)
n.582+9983C>A
c.1848G>T (p.Gln616His)
c.1845G>T (p.Gln615His)
n.2636G>T
n.2471G>T
n.476-11627C>A
n.600+9983C>A
 gnomAD v4
3g.193658938C>ACA355791843OPA1c.2383C>A (p.Gln795Lys)
c.2218C>A (p.Gln740Lys)
c.2329C>A (p.Gln777Lys)
c.2272C>A (p.Gln758Lys)
c.2157C>A
c.*443C>A (n.*443C>A)
c.1900C>A (p.Gln634Lys)
c.*2299C>A (n.*2299C>A)
c.1805C>A
c.*702C>A (n.*702C>A)
c.2212C>A
c.2233C>A (p.Gln745Lys)
c.*1696C>A (n.*1696C>A)
c.*819C>A (n.*819C>A)
c.1206C>A
c.2110C>A (p.Gln704Lys)
c.2221C>A (p.Gln741Lys)
c.2275C>A (p.Gln759Lys)
n.477C>A
c.2164C>A (p.Gln722Lys)
n.582+9982G>T
c.1849C>A (p.Gln617Lys)
c.1846C>A (p.Gln616Lys)
n.2637C>A
n.2472C>A
n.476-11628G>T
n.600+9982G>T
3g.193658938C>GCA355791844OPA1c.2383C>G (p.Gln795Glu)
c.2218C>G (p.Gln740Glu)
c.2329C>G (p.Gln777Glu)
c.2272C>G (p.Gln758Glu)
c.2157C>G
c.*443C>G (n.*443C>G)
c.1900C>G (p.Gln634Glu)
c.*2299C>G (n.*2299C>G)
c.1805C>G
c.*702C>G (n.*702C>G)
c.2212C>G
c.2233C>G (p.Gln745Glu)
c.*1696C>G (n.*1696C>G)
c.*819C>G (n.*819C>G)
c.1206C>G
c.2110C>G (p.Gln704Glu)
c.2221C>G (p.Gln741Glu)
c.2275C>G (p.Gln759Glu)
n.477C>G
c.2164C>G (p.Gln722Glu)
n.582+9982G>C
c.1849C>G (p.Gln617Glu)
c.1846C>G (p.Gln616Glu)
n.2637C>G
n.2472C>G
n.476-11628G>C
n.600+9982G>C
3g.193658938C>TCA355791845OPA1c.2383C>T (p.Gln795Ter)
c.2218C>T (p.Gln740Ter)
c.2329C>T (p.Gln777Ter)
c.2272C>T (p.Gln758Ter)
c.2157C>T
c.*443C>T (n.*443C>T)
c.1900C>T (p.Gln634Ter)
c.*2299C>T (n.*2299C>T)
c.1805C>T
c.*702C>T (n.*702C>T)
c.2212C>T
c.2233C>T (p.Gln745Ter)
c.*1696C>T (n.*1696C>T)
c.*819C>T (n.*819C>T)
c.1206C>T
c.2110C>T (p.Gln704Ter)
c.2221C>T (p.Gln741Ter)
c.2275C>T (p.Gln759Ter)
n.477C>T
c.2164C>T (p.Gln722Ter)
n.582+9982G>A
c.1849C>T (p.Gln617Ter)
c.1846C>T (p.Gln616Ter)
n.2637C>T
n.2472C>T
n.476-11628G>A
n.600+9982G>A
3g.193658939A>CCA355791848OPA1c.2384A>C (p.Gln795Pro)
c.2219A>C (p.Gln740Pro)
c.2330A>C (p.Gln777Pro)
c.2273A>C (p.Gln758Pro)
c.2158A>C
c.*444A>C (n.*444A>C)
c.1901A>C (p.Gln634Pro)
c.*2300A>C (n.*2300A>C)
c.1806A>C
c.*703A>C (n.*703A>C)
c.2213A>C
c.2234A>C (p.Gln745Pro)
c.*1697A>C (n.*1697A>C)
c.*820A>C (n.*820A>C)
c.1207A>C
c.2111A>C (p.Gln704Pro)
c.2222A>C (p.Gln741Pro)
c.2276A>C (p.Gln759Pro)
n.478A>C
c.2165A>C (p.Gln722Pro)
n.582+9981T>G
c.1850A>C (p.Gln617Pro)
c.1847A>C (p.Gln616Pro)
n.2638A>C
n.2473A>C
n.476-11629T>G
n.600+9981T>G
3g.193658939A>GCA355791846OPA1c.2384A>G (p.Gln795Arg)
c.2219A>G (p.Gln740Arg)
c.2330A>G (p.Gln777Arg)
c.2273A>G (p.Gln758Arg)
c.2158A>G
c.*444A>G (n.*444A>G)
c.1901A>G (p.Gln634Arg)
c.*2300A>G (n.*2300A>G)
c.1806A>G
c.*703A>G (n.*703A>G)
c.2213A>G
c.2234A>G (p.Gln745Arg)
c.*1697A>G (n.*1697A>G)
c.*820A>G (n.*820A>G)
c.1207A>G
c.2111A>G (p.Gln704Arg)
c.2222A>G (p.Gln741Arg)
c.2276A>G (p.Gln759Arg)
n.478A>G
c.2165A>G (p.Gln722Arg)
n.582+9981T>C
c.1850A>G (p.Gln617Arg)
c.1847A>G (p.Gln616Arg)
n.2638A>G
n.2473A>G
n.476-11629T>C
n.600+9981T>C
3g.193658939A>TCA355791847OPA1c.2384A>T (p.Gln795Leu)
c.2219A>T (p.Gln740Leu)
c.2330A>T (p.Gln777Leu)
c.2273A>T (p.Gln758Leu)
c.2158A>T
c.*444A>T (n.*444A>T)
c.1901A>T (p.Gln634Leu)
c.*2300A>T (n.*2300A>T)
c.1806A>T
c.*703A>T (n.*703A>T)
c.2213A>T
c.2234A>T (p.Gln745Leu)
c.*1697A>T (n.*1697A>T)
c.*820A>T (n.*820A>T)
c.1207A>T
c.2111A>T (p.Gln704Leu)
c.2222A>T (p.Gln741Leu)
c.2276A>T (p.Gln759Leu)
n.478A>T
c.2165A>T (p.Gln722Leu)
n.582+9981T>A
c.1850A>T (p.Gln617Leu)
c.1847A>T (p.Gln616Leu)
n.2638A>T
n.2473A>T
n.476-11629T>A
n.600+9981T>A
3g.193658940A=CA1430265077OPA1c.2385A= (p.Gln795=)
c.2220A= (p.Gln740=)
c.2331A= (p.Gln777=)
c.2274A= (p.Gln758=)
c.2159A=
c.*445A= (n.*445A=)
c.1902A= (p.Gln634=)
c.*2301A= (n.*2301A=)
c.1807A=
c.*704A= (n.*704A=)
c.2214A=
c.2235A= (p.Gln745=)
c.*1698A= (n.*1698A=)
c.*821A= (n.*821A=)
c.1208A=
c.2112A= (p.Gln704=)
c.2223A= (p.Gln741=)
c.2277A= (p.Gln759=)
n.479A=
c.2166A= (p.Gln722=)
n.582+9980T=
c.1851A= (p.Gln617=)
c.1848A= (p.Gln616=)
n.2639A=
n.2474A=
n.476-11630T=
n.600+9980T=
3g.193658940A>CCA355791849OPA1c.2385A>C (p.Gln795His)
c.2220A>C (p.Gln740His)
c.2331A>C (p.Gln777His)
c.2274A>C (p.Gln758His)
c.2159A>C
c.*445A>C (n.*445A>C)
c.1902A>C (p.Gln634His)
c.*2301A>C (n.*2301A>C)
c.1807A>C
c.*704A>C (n.*704A>C)
c.2214A>C
c.2235A>C (p.Gln745His)
c.*1698A>C (n.*1698A>C)
c.*821A>C (n.*821A>C)
c.1208A>C
c.2112A>C (p.Gln704His)
c.2223A>C (p.Gln741His)
c.2277A>C (p.Gln759His)
n.479A>C
c.2166A>C (p.Gln722His)
n.582+9980T>G
c.1851A>C (p.Gln617His)
c.1848A>C (p.Gln616His)
n.2639A>C
n.2474A>C
n.476-11630T>G
n.600+9980T>G
3g.193658940A>GCA2759639OPA1c.2385A>G (p.Gln795=)
c.2220A>G (p.Gln740=)
c.2331A>G (p.Gln777=)
c.2274A>G (p.Gln758=)
c.2159A>G
c.*445A>G (n.*445A>G)
c.1902A>G (p.Gln634=)
c.*2301A>G (n.*2301A>G)
c.1807A>G
c.*704A>G (n.*704A>G)
c.2214A>G
c.2235A>G (p.Gln745=)
c.*1698A>G (n.*1698A>G)
c.*821A>G (n.*821A>G)
c.1208A>G
c.2112A>G (p.Gln704=)
c.2223A>G (p.Gln741=)
c.2277A>G (p.Gln759=)
n.479A>G
c.2166A>G (p.Gln722=)
n.582+9980T>C
c.1851A>G (p.Gln617=)
c.1848A>G (p.Gln616=)
n.2639A>G
n.2474A>G
n.476-11630T>C
n.600+9980T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.193658940A>TCA355791850OPA1c.2385A>T (p.Gln795His)
c.2220A>T (p.Gln740His)
c.2331A>T (p.Gln777His)
c.2274A>T (p.Gln758His)
c.2159A>T
c.*445A>T (n.*445A>T)
c.1902A>T (p.Gln634His)
c.*2301A>T (n.*2301A>T)
c.1807A>T
c.*704A>T (n.*704A>T)
c.2214A>T
c.2235A>T (p.Gln745His)
c.*1698A>T (n.*1698A>T)
c.*821A>T (n.*821A>T)
c.1208A>T
c.2112A>T (p.Gln704His)
c.2223A>T (p.Gln741His)
c.2277A>T (p.Gln759His)
n.479A>T
c.2166A>T (p.Gln722His)
n.582+9980T>A
c.1851A>T (p.Gln617His)
c.1848A>T (p.Gln616His)
n.2639A>T
n.2474A>T
n.476-11630T>A
n.600+9980T>A
3g.193658941T>ACA355791852OPA1c.2386T>A (p.Trp796Arg)
c.2221T>A (p.Trp741Arg)
c.2332T>A (p.Trp778Arg)
c.2275T>A (p.Trp759Arg)
c.2160T>A
c.*446T>A (n.*446T>A)
c.1903T>A (p.Trp635Arg)
c.*2302T>A (n.*2302T>A)
c.1808T>A
c.*705T>A (n.*705T>A)
c.2215T>A
c.2236T>A (p.Trp746Arg)
c.*1699T>A (n.*1699T>A)
c.*822T>A (n.*822T>A)
c.1209T>A
c.2113T>A (p.Trp705Arg)
c.2224T>A (p.Trp742Arg)
c.2278T>A (p.Trp760Arg)
n.480T>A
c.2167T>A (p.Trp723Arg)
n.582+9979A>T
c.1852T>A (p.Trp618Arg)
c.1849T>A (p.Trp617Arg)
n.2640T>A
n.2475T>A
n.476-11631A>T
n.600+9979A>T
3g.193658941T>CCA355791855OPA1c.2386T>C (p.Trp796Arg)
c.2221T>C (p.Trp741Arg)
c.2332T>C (p.Trp778Arg)
c.2275T>C (p.Trp759Arg)
c.2160T>C
c.*446T>C (n.*446T>C)
c.1903T>C (p.Trp635Arg)
c.*2302T>C (n.*2302T>C)
c.1808T>C
c.*705T>C (n.*705T>C)
c.2215T>C
c.2236T>C (p.Trp746Arg)
c.*1699T>C (n.*1699T>C)
c.*822T>C (n.*822T>C)
c.1209T>C
c.2113T>C (p.Trp705Arg)
c.2224T>C (p.Trp742Arg)
c.2278T>C (p.Trp760Arg)
n.480T>C
c.2167T>C (p.Trp723Arg)
n.582+9979A>G
c.1852T>C (p.Trp618Arg)
c.1849T>C (p.Trp617Arg)
n.2640T>C
n.2475T>C
n.476-11631A>G
n.600+9979A>G
3g.193658941T>GCA355791856OPA1c.2386T>G (p.Trp796Gly)
c.2221T>G (p.Trp741Gly)
c.2332T>G (p.Trp778Gly)
c.2275T>G (p.Trp759Gly)
c.2160T>G
c.*446T>G (n.*446T>G)
c.1903T>G (p.Trp635Gly)
c.*2302T>G (n.*2302T>G)
c.1808T>G
c.*705T>G (n.*705T>G)
c.2215T>G
c.2236T>G (p.Trp746Gly)
c.*1699T>G (n.*1699T>G)
c.*822T>G (n.*822T>G)
c.1209T>G
c.2113T>G (p.Trp705Gly)
c.2224T>G (p.Trp742Gly)
c.2278T>G (p.Trp760Gly)
n.480T>G
c.2167T>G (p.Trp723Gly)
n.582+9979A>C
c.1852T>G (p.Trp618Gly)
c.1849T>G (p.Trp617Gly)
n.2640T>G
n.2475T>G
n.476-11631A>C
n.600+9979A>C
3g.193658942G>ACA355791860OPA1c.2387G>A (p.Trp796Ter)
c.2222G>A (p.Trp741Ter)
c.2333G>A (p.Trp778Ter)
c.2276G>A (p.Trp759Ter)
c.2161G>A
c.*447G>A (n.*447G>A)
c.1904G>A (p.Trp635Ter)
c.*2303G>A (n.*2303G>A)
c.1809G>A
c.*706G>A (n.*706G>A)
c.2216G>A
c.2237G>A (p.Trp746Ter)
c.*1700G>A (n.*1700G>A)
c.*823G>A (n.*823G>A)
c.1210G>A
c.2114G>A (p.Trp705Ter)
c.2225G>A (p.Trp742Ter)
c.2279G>A (p.Trp760Ter)
n.481G>A
c.2168G>A (p.Trp723Ter)
n.582+9978C>T
c.1853G>A (p.Trp618Ter)
c.1850G>A (p.Trp617Ter)
n.2641G>A
n.2476G>A
n.476-11632C>T
n.600+9978C>T
3g.193658942G>CCA355791861OPA1c.2387G>C (p.Trp796Ser)
c.2222G>C (p.Trp741Ser)
c.2333G>C (p.Trp778Ser)
c.2276G>C (p.Trp759Ser)
c.2161G>C
c.*447G>C (n.*447G>C)
c.1904G>C (p.Trp635Ser)
c.*2303G>C (n.*2303G>C)
c.1809G>C
c.*706G>C (n.*706G>C)
c.2216G>C
c.2237G>C (p.Trp746Ser)
c.*1700G>C (n.*1700G>C)
c.*823G>C (n.*823G>C)
c.1210G>C
c.2114G>C (p.Trp705Ser)
c.2225G>C (p.Trp742Ser)
c.2279G>C (p.Trp760Ser)
n.481G>C
c.2168G>C (p.Trp723Ser)
n.582+9978C>G
c.1853G>C (p.Trp618Ser)
c.1850G>C (p.Trp617Ser)
n.2641G>C
n.2476G>C
n.476-11632C>G
n.600+9978C>G
3g.193658942G>TCA355791863OPA1c.2387G>T (p.Trp796Leu)
c.2222G>T (p.Trp741Leu)
c.2333G>T (p.Trp778Leu)
c.2276G>T (p.Trp759Leu)
c.2161G>T
c.*447G>T (n.*447G>T)
c.1904G>T (p.Trp635Leu)
c.*2303G>T (n.*2303G>T)
c.1809G>T
c.*706G>T (n.*706G>T)
c.2216G>T
c.2237G>T (p.Trp746Leu)
c.*1700G>T (n.*1700G>T)
c.*823G>T (n.*823G>T)
c.1210G>T
c.2114G>T (p.Trp705Leu)
c.2225G>T (p.Trp742Leu)
c.2279G>T (p.Trp760Leu)
n.481G>T
c.2168G>T (p.Trp723Leu)
n.582+9978C>A
c.1853G>T (p.Trp618Leu)
c.1850G>T (p.Trp617Leu)
n.2641G>T
n.2476G>T
n.476-11632C>A
n.600+9978C>A
3g.193658943G>ACA355791865OPA1c.2388G>A (p.Trp796Ter)
c.2223G>A (p.Trp741Ter)
c.2334G>A (p.Trp778Ter)
c.2277G>A (p.Trp759Ter)
c.2162G>A
c.*448G>A (n.*448G>A)
c.1905G>A (p.Trp635Ter)
c.*2304G>A (n.*2304G>A)
c.1810G>A
c.*707G>A (n.*707G>A)
c.2217G>A
c.2238G>A (p.Trp746Ter)
c.*1701G>A (n.*1701G>A)
c.*824G>A (n.*824G>A)
c.1211G>A
c.2115G>A (p.Trp705Ter)
c.2226G>A (p.Trp742Ter)
c.2280G>A (p.Trp760Ter)
n.482G>A
c.2169G>A (p.Trp723Ter)
n.582+9977C>T
c.1854G>A (p.Trp618Ter)
c.1851G>A (p.Trp617Ter)
n.2642G>A
n.2477G>A
n.476-11633C>T
n.600+9977C>T
3g.193658943G>CCA355791866OPA1c.2388G>C (p.Trp796Cys)
c.2223G>C (p.Trp741Cys)
c.2334G>C (p.Trp778Cys)
c.2277G>C (p.Trp759Cys)
c.2162G>C
c.*448G>C (n.*448G>C)
c.1905G>C (p.Trp635Cys)
c.*2304G>C (n.*2304G>C)
c.1810G>C
c.*707G>C (n.*707G>C)
c.2217G>C
c.2238G>C (p.Trp746Cys)
c.*1701G>C (n.*1701G>C)
c.*824G>C (n.*824G>C)
c.1211G>C
c.2115G>C (p.Trp705Cys)
c.2226G>C (p.Trp742Cys)
c.2280G>C (p.Trp760Cys)
n.482G>C
c.2169G>C (p.Trp723Cys)
n.582+9977C>G
c.1854G>C (p.Trp618Cys)
c.1851G>C (p.Trp617Cys)
n.2642G>C
n.2477G>C
n.476-11633C>G
n.600+9977C>G
3g.193658943G>TCA355791868OPA1c.2388G>T (p.Trp796Cys)
c.2223G>T (p.Trp741Cys)
c.2334G>T (p.Trp778Cys)
c.2277G>T (p.Trp759Cys)
c.2162G>T
c.*448G>T (n.*448G>T)
c.1905G>T (p.Trp635Cys)
c.*2304G>T (n.*2304G>T)
c.1810G>T
c.*707G>T (n.*707G>T)
c.2217G>T
c.2238G>T (p.Trp746Cys)
c.*1701G>T (n.*1701G>T)
c.*824G>T (n.*824G>T)
c.1211G>T
c.2115G>T (p.Trp705Cys)
c.2226G>T (p.Trp742Cys)
c.2280G>T (p.Trp760Cys)
n.482G>T
c.2169G>T (p.Trp723Cys)
n.582+9977C>A
c.1854G>T (p.Trp618Cys)
c.1851G>T (p.Trp617Cys)
n.2642G>T
n.2477G>T
n.476-11633C>A
n.600+9977C>A
 gnomAD v4
3g.193658944G>ACA355791871OPA1c.2389G>A (p.Asp797Asn)
c.2224G>A (p.Asp742Asn)
c.2335G>A (p.Asp779Asn)
c.2278G>A (p.Asp760Asn)
c.2163G>A
c.*449G>A (n.*449G>A)
c.1906G>A (p.Asp636Asn)
c.*2305G>A (n.*2305G>A)
c.1811G>A
c.*708G>A (n.*708G>A)
c.2218G>A
c.2239G>A (p.Asp747Asn)
c.*1702G>A (n.*1702G>A)
c.*825G>A (n.*825G>A)
c.1212G>A
c.2116G>A (p.Asp706Asn)
c.2227G>A (p.Asp743Asn)
c.2281G>A (p.Asp761Asn)
n.483G>A
c.2170G>A (p.Asp724Asn)
n.582+9976C>T
c.1855G>A (p.Asp619Asn)
c.1852G>A (p.Asp618Asn)
n.2643G>A
n.2478G>A
n.476-11634C>T
n.600+9976C>T
3g.193658944G>CCA355791875OPA1c.2389G>C (p.Asp797His)
c.2224G>C (p.Asp742His)
c.2335G>C (p.Asp779His)
c.2278G>C (p.Asp760His)
c.2163G>C
c.*449G>C (n.*449G>C)
c.1906G>C (p.Asp636His)
c.*2305G>C (n.*2305G>C)
c.1811G>C
c.*708G>C (n.*708G>C)
c.2218G>C
c.2239G>C (p.Asp747His)
c.*1702G>C (n.*1702G>C)
c.*825G>C (n.*825G>C)
c.1212G>C
c.2116G>C (p.Asp706His)
c.2227G>C (p.Asp743His)
c.2281G>C (p.Asp761His)
n.483G>C
c.2170G>C (p.Asp724His)
n.582+9976C>G
c.1855G>C (p.Asp619His)
c.1852G>C (p.Asp618His)
n.2643G>C
n.2478G>C
n.476-11634C>G
n.600+9976C>G
3g.193658944G>TCA355791873OPA1c.2389G>T (p.Asp797Tyr)
c.2224G>T (p.Asp742Tyr)
c.2335G>T (p.Asp779Tyr)
c.2278G>T (p.Asp760Tyr)
c.2163G>T
c.*449G>T (n.*449G>T)
c.1906G>T (p.Asp636Tyr)
c.*2305G>T (n.*2305G>T)
c.1811G>T
c.*708G>T (n.*708G>T)
c.2218G>T
c.2239G>T (p.Asp747Tyr)
c.*1702G>T (n.*1702G>T)
c.*825G>T (n.*825G>T)
c.1212G>T
c.2116G>T (p.Asp706Tyr)
c.2227G>T (p.Asp743Tyr)
c.2281G>T (p.Asp761Tyr)
n.483G>T
c.2170G>T (p.Asp724Tyr)
n.582+9976C>A
c.1855G>T (p.Asp619Tyr)
c.1852G>T (p.Asp618Tyr)
n.2643G>T
n.2478G>T
n.476-11634C>A
n.600+9976C>A
3g.193658945A>CCA355791877OPA1c.2390A>C (p.Asp797Ala)
c.2225A>C (p.Asp742Ala)
c.2336A>C (p.Asp779Ala)
c.2279A>C (p.Asp760Ala)
c.2164A>C
c.*450A>C (n.*450A>C)
c.1907A>C (p.Asp636Ala)
c.*2306A>C (n.*2306A>C)
c.1812A>C
c.*709A>C (n.*709A>C)
c.2219A>C
c.2240A>C (p.Asp747Ala)
c.*1703A>C (n.*1703A>C)
c.*826A>C (n.*826A>C)
c.1213A>C
c.2117A>C (p.Asp706Ala)
c.2228A>C (p.Asp743Ala)
c.2282A>C (p.Asp761Ala)
n.484A>C
c.2171A>C (p.Asp724Ala)
n.582+9975T>G
c.1856A>C (p.Asp619Ala)
c.1853A>C (p.Asp618Ala)
n.2644A>C
n.2479A>C
n.476-11635T>G
n.600+9975T>G
3g.193658945A>GCA355791879OPA1c.2390A>G (p.Asp797Gly)
c.2225A>G (p.Asp742Gly)
c.2336A>G (p.Asp779Gly)
c.2279A>G (p.Asp760Gly)
c.2164A>G
c.*450A>G (n.*450A>G)
c.1907A>G (p.Asp636Gly)
c.*2306A>G (n.*2306A>G)
c.1812A>G
c.*709A>G (n.*709A>G)
c.2219A>G
c.2240A>G (p.Asp747Gly)
c.*1703A>G (n.*1703A>G)
c.*826A>G (n.*826A>G)
c.1213A>G
c.2117A>G (p.Asp706Gly)
c.2228A>G (p.Asp743Gly)
c.2282A>G (p.Asp761Gly)
n.484A>G
c.2171A>G (p.Asp724Gly)
n.582+9975T>C
c.1856A>G (p.Asp619Gly)
c.1853A>G (p.Asp618Gly)
n.2644A>G
n.2479A>G
n.476-11635T>C
n.600+9975T>C
3g.193658945A>TCA355791878OPA1c.2390A>T (p.Asp797Val)
c.2225A>T (p.Asp742Val)
c.2336A>T (p.Asp779Val)
c.2279A>T (p.Asp760Val)
c.2164A>T
c.*450A>T (n.*450A>T)
c.1907A>T (p.Asp636Val)
c.*2306A>T (n.*2306A>T)
c.1812A>T
c.*709A>T (n.*709A>T)
c.2219A>T
c.2240A>T (p.Asp747Val)
c.*1703A>T (n.*1703A>T)
c.*826A>T (n.*826A>T)
c.1213A>T
c.2117A>T (p.Asp706Val)
c.2228A>T (p.Asp743Val)
c.2282A>T (p.Asp761Val)
n.484A>T
c.2171A>T (p.Asp724Val)
n.582+9975T>A
c.1856A>T (p.Asp619Val)
c.1853A>T (p.Asp618Val)
n.2644A>T
n.2479A>T
n.476-11635T>A
n.600+9975T>A
 gnomAD v4
3g.193658946T>ACA355791880OPA1c.2391T>A (p.Asp797Glu)
c.2226T>A (p.Asp742Glu)
c.2337T>A (p.Asp779Glu)
c.2280T>A (p.Asp760Glu)
c.2165T>A
c.*451T>A (n.*451T>A)
c.1908T>A (p.Asp636Glu)
c.*2307T>A (n.*2307T>A)
c.1813T>A
c.*710T>A (n.*710T>A)
c.2220T>A
c.2241T>A (p.Asp747Glu)
c.*1704T>A (n.*1704T>A)
c.*827T>A (n.*827T>A)
c.1214T>A
c.2118T>A (p.Asp706Glu)
c.2229T>A (p.Asp743Glu)
c.2283T>A (p.Asp761Glu)
n.485T>A
c.2172T>A (p.Asp724Glu)
n.582+9974A>T
c.1857T>A (p.Asp619Glu)
c.1854T>A (p.Asp618Glu)
n.2645T>A
n.2480T>A
n.476-11636A>T
n.600+9974A>T
3g.193658946T>CCA437441285OPA1c.2391T>C (p.Asp797=)
c.2226T>C (p.Asp742=)
c.2337T>C (p.Asp779=)
c.2280T>C (p.Asp760=)
c.2165T>C
c.*451T>C (n.*451T>C)
c.1908T>C (p.Asp636=)
c.*2307T>C (n.*2307T>C)
c.1813T>C
c.*710T>C (n.*710T>C)
c.2220T>C
c.2241T>C (p.Asp747=)
c.*1704T>C (n.*1704T>C)
c.*827T>C (n.*827T>C)
c.1214T>C
c.2118T>C (p.Asp706=)
c.2229T>C (p.Asp743=)
c.2283T>C (p.Asp761=)
n.485T>C
c.2172T>C (p.Asp724=)
n.582+9974A>G
c.1857T>C (p.Asp619=)
c.1854T>C (p.Asp618=)
n.2645T>C
n.2480T>C
n.476-11636A>G
n.600+9974A>G
3g.193658946T>GCA2759640OPA1c.2391T>G (p.Asp797Glu)
c.2226T>G (p.Asp742Glu)
c.2337T>G (p.Asp779Glu)
c.2280T>G (p.Asp760Glu)
c.2165T>G
c.*451T>G (n.*451T>G)
c.1908T>G (p.Asp636Glu)
c.*2307T>G (n.*2307T>G)
c.1813T>G
c.*710T>G (n.*710T>G)
c.2220T>G
c.2241T>G (p.Asp747Glu)
c.*1704T>G (n.*1704T>G)
c.*827T>G (n.*827T>G)
c.1214T>G
c.2118T>G (p.Asp706Glu)
c.2229T>G (p.Asp743Glu)
c.2283T>G (p.Asp761Glu)
n.485T>G
c.2172T>G (p.Asp724Glu)
n.582+9974A>C
c.1857T>G (p.Asp619Glu)
c.1854T>G (p.Asp618Glu)
n.2645T>G
n.2480T>G
n.476-11636A>C
n.600+9974A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.193658946T=CA1430265078OPA1c.2391T= (p.Asp797=)
c.2226T= (p.Asp742=)
c.2337T= (p.Asp779=)
c.2280T= (p.Asp760=)
c.2165T=
c.*451T= (n.*451T=)
c.1908T= (p.Asp636=)
c.*2307T= (n.*2307T=)
c.1813T=
c.*710T= (n.*710T=)
c.2220T=
c.2241T= (p.Asp747=)
c.*1704T= (n.*1704T=)
c.*827T= (n.*827T=)
c.1214T=
c.2118T= (p.Asp706=)
c.2229T= (p.Asp743=)
c.2283T= (p.Asp761=)
n.485T=
c.2172T= (p.Asp724=)
n.582+9974A=
c.1857T= (p.Asp619=)
c.1854T= (p.Asp618=)
n.2645T=
n.2480T=
n.476-11636A=
n.600+9974A=
3g.193658947G>ACA355791881OPA1c.2392G>A (p.Ala798Thr)
c.2227G>A (p.Ala743Thr)
c.2338G>A (p.Ala780Thr)
c.2281G>A (p.Ala761Thr)
c.2166G>A
c.*452G>A (n.*452G>A)
c.1909G>A (p.Ala637Thr)
c.*2308G>A (n.*2308G>A)
c.1814G>A
c.*711G>A (n.*711G>A)
c.2221G>A
c.2242G>A (p.Ala748Thr)
c.*1705G>A (n.*1705G>A)
c.*828G>A (n.*828G>A)
c.1215G>A
c.2119G>A (p.Ala707Thr)
c.2230G>A (p.Ala744Thr)
c.2284G>A (p.Ala762Thr)
n.486G>A
c.2173G>A (p.Ala725Thr)
n.582+9973C>T
c.1858G>A (p.Ala620Thr)
c.1855G>A (p.Ala619Thr)
n.2646G>A
n.2481G>A
n.476-11637C>T
n.600+9973C>T
 gnomAD v4 COSMIC
3g.193658947G>CCA355791882OPA1c.2392G>C (p.Ala798Pro)
c.2227G>C (p.Ala743Pro)
c.2338G>C (p.Ala780Pro)
c.2281G>C (p.Ala761Pro)
c.2166G>C
c.*452G>C (n.*452G>C)
c.1909G>C (p.Ala637Pro)
c.*2308G>C (n.*2308G>C)
c.1814G>C
c.*711G>C (n.*711G>C)
c.2221G>C
c.2242G>C (p.Ala748Pro)
c.*1705G>C (n.*1705G>C)
c.*828G>C (n.*828G>C)
c.1215G>C
c.2119G>C (p.Ala707Pro)
c.2230G>C (p.Ala744Pro)
c.2284G>C (p.Ala762Pro)
n.486G>C
c.2173G>C (p.Ala725Pro)
n.582+9973C>G
c.1858G>C (p.Ala620Pro)
c.1855G>C (p.Ala619Pro)
n.2646G>C
n.2481G>C
n.476-11637C>G
n.600+9973C>G
3g.193658947G>TCA355791885OPA1c.2392G>T (p.Ala798Ser)
c.2227G>T (p.Ala743Ser)
c.2338G>T (p.Ala780Ser)
c.2281G>T (p.Ala761Ser)
c.2166G>T
c.*452G>T (n.*452G>T)
c.1909G>T (p.Ala637Ser)
c.*2308G>T (n.*2308G>T)
c.1814G>T
c.*711G>T (n.*711G>T)
c.2221G>T
c.2242G>T (p.Ala748Ser)
c.*1705G>T (n.*1705G>T)
c.*828G>T (n.*828G>T)
c.1215G>T
c.2119G>T (p.Ala707Ser)
c.2230G>T (p.Ala744Ser)
c.2284G>T (p.Ala762Ser)
n.486G>T
c.2173G>T (p.Ala725Ser)
n.582+9973C>A
c.1858G>T (p.Ala620Ser)
c.1855G>T (p.Ala619Ser)
n.2646G>T
n.2481G>T
n.476-11637C>A
n.600+9973C>A
3g.193658948C>ACA355791887OPA1c.2393C>A (p.Ala798Glu)
c.2228C>A (p.Ala743Glu)
c.2339C>A (p.Ala780Glu)
c.2282C>A (p.Ala761Glu)
c.2167C>A
c.*453C>A (n.*453C>A)
c.1910C>A (p.Ala637Glu)
c.*2309C>A (n.*2309C>A)
c.1815C>A
c.*712C>A (n.*712C>A)
c.2222C>A
c.2243C>A (p.Ala748Glu)
c.*1706C>A (n.*1706C>A)
c.*829C>A (n.*829C>A)
c.1216C>A
c.2120C>A (p.Ala707Glu)
c.2231C>A (p.Ala744Glu)
c.2285C>A (p.Ala762Glu)
n.487C>A
c.2174C>A (p.Ala725Glu)
n.582+9972G>T
c.1859C>A (p.Ala620Glu)
c.1856C>A (p.Ala619Glu)
n.2647C>A
n.2482C>A
n.476-11638G>T
n.600+9972G>T
3g.193658948C>GCA355791889OPA1c.2393C>G (p.Ala798Gly)
c.2228C>G (p.Ala743Gly)
c.2339C>G (p.Ala780Gly)
c.2282C>G (p.Ala761Gly)
c.2167C>G
c.*453C>G (n.*453C>G)
c.1910C>G (p.Ala637Gly)
c.*2309C>G (n.*2309C>G)
c.1815C>G
c.*712C>G (n.*712C>G)
c.2222C>G
c.2243C>G (p.Ala748Gly)
c.*1706C>G (n.*1706C>G)
c.*829C>G (n.*829C>G)
c.1216C>G
c.2120C>G (p.Ala707Gly)
c.2231C>G (p.Ala744Gly)
c.2285C>G (p.Ala762Gly)
n.487C>G
c.2174C>G (p.Ala725Gly)
n.582+9972G>C
c.1859C>G (p.Ala620Gly)
c.1856C>G (p.Ala619Gly)
n.2647C>G
n.2482C>G
n.476-11638G>C
n.600+9972G>C
3g.193658948C>TCA355791892OPA1c.2393C>T (p.Ala798Val)
c.2228C>T (p.Ala743Val)
c.2339C>T (p.Ala780Val)
c.2282C>T (p.Ala761Val)
c.2167C>T
c.*453C>T (n.*453C>T)
c.1910C>T (p.Ala637Val)
c.*2309C>T (n.*2309C>T)
c.1815C>T
c.*712C>T (n.*712C>T)
c.2222C>T
c.2243C>T (p.Ala748Val)
c.*1706C>T (n.*1706C>T)
c.*829C>T (n.*829C>T)
c.1216C>T
c.2120C>T (p.Ala707Val)
c.2231C>T (p.Ala744Val)
c.2285C>T (p.Ala762Val)
n.487C>T
c.2174C>T (p.Ala725Val)
n.582+9972G>A
c.1859C>T (p.Ala620Val)
c.1856C>T (p.Ala619Val)
n.2647C>T
n.2482C>T
n.476-11638G>A
n.600+9972G>A
 ClinVar gnomAD v4
3g.193658949A>CCA437441286OPA1c.2394A>C (p.Ala798=)
c.2229A>C (p.Ala743=)
c.2340A>C (p.Ala780=)
c.2283A>C (p.Ala761=)
c.2168A>C
c.*454A>C (n.*454A>C)
c.1911A>C (p.Ala637=)
c.*2310A>C (n.*2310A>C)
c.1816A>C
c.*713A>C (n.*713A>C)
c.2223A>C
c.2244A>C (p.Ala748=)
c.*1707A>C (n.*1707A>C)
c.*830A>C (n.*830A>C)
c.1217A>C
c.2121A>C (p.Ala707=)
c.2232A>C (p.Ala744=)
c.2286A>C (p.Ala762=)
n.488A>C
c.2175A>C (p.Ala725=)
n.582+9971T>G
c.1860A>C (p.Ala620=)
c.1857A>C (p.Ala619=)
n.2648A>C
n.2483A>C
n.476-11639T>G
n.600+9971T>G
3g.193658949A>GCA437441287OPA1c.2394A>G (p.Ala798=)
c.2229A>G (p.Ala743=)
c.2340A>G (p.Ala780=)
c.2283A>G (p.Ala761=)
c.2168A>G
c.*454A>G (n.*454A>G)
c.1911A>G (p.Ala637=)
c.*2310A>G (n.*2310A>G)
c.1816A>G
c.*713A>G (n.*713A>G)
c.2223A>G
c.2244A>G (p.Ala748=)
c.*1707A>G (n.*1707A>G)
c.*830A>G (n.*830A>G)
c.1217A>G
c.2121A>G (p.Ala707=)
c.2232A>G (p.Ala744=)
c.2286A>G (p.Ala762=)
n.488A>G
c.2175A>G (p.Ala725=)
n.582+9971T>C
c.1860A>G (p.Ala620=)
c.1857A>G (p.Ala619=)
n.2648A>G
n.2483A>G
n.476-11639T>C
n.600+9971T>C
3g.193658949A>TCA437441288OPA1c.2394A>T (p.Ala798=)
c.2229A>T (p.Ala743=)
c.2340A>T (p.Ala780=)
c.2283A>T (p.Ala761=)
c.2168A>T
c.*454A>T (n.*454A>T)
c.1911A>T (p.Ala637=)
c.*2310A>T (n.*2310A>T)
c.1816A>T
c.*713A>T (n.*713A>T)
c.2223A>T
c.2244A>T (p.Ala748=)
c.*1707A>T (n.*1707A>T)
c.*830A>T (n.*830A>T)
c.1217A>T
c.2121A>T (p.Ala707=)
c.2232A>T (p.Ala744=)
c.2286A>T (p.Ala762=)
n.488A>T
c.2175A>T (p.Ala725=)
n.582+9971T>A
c.1860A>T (p.Ala620=)
c.1857A>T (p.Ala619=)
n.2648A>T
n.2483A>T
n.476-11639T>A
n.600+9971T>A
3g.193658950G>ACA355791894OPA1c.2395G>A (p.Ala799Thr)
c.2230G>A (p.Ala744Thr)
c.2341G>A (p.Ala781Thr)
c.2284G>A (p.Ala762Thr)
c.2169G>A
c.*455G>A (n.*455G>A)
c.1912G>A (p.Ala638Thr)
c.*2311G>A (n.*2311G>A)
c.1817G>A
c.*714G>A (n.*714G>A)
c.2224G>A
c.2245G>A (p.Ala749Thr)
c.*1708G>A (n.*1708G>A)
c.*831G>A (n.*831G>A)
c.1218G>A
c.2122G>A (p.Ala708Thr)
c.2233G>A (p.Ala745Thr)
c.2287G>A (p.Ala763Thr)
n.489G>A
c.2176G>A (p.Ala726Thr)
n.582+9970C>T
c.1861G>A (p.Ala621Thr)
c.1858G>A (p.Ala620Thr)
n.2649G>A
n.2484G>A
n.476-11640C>T
n.600+9970C>T
 ClinVar dbSNP gnomAD v4
3g.193658950G>CCA355791896OPA1c.2395G>C (p.Ala799Pro)
c.2230G>C (p.Ala744Pro)
c.2341G>C (p.Ala781Pro)
c.2284G>C (p.Ala762Pro)
c.2169G>C
c.*455G>C (n.*455G>C)
c.1912G>C (p.Ala638Pro)
c.*2311G>C (n.*2311G>C)
c.1817G>C
c.*714G>C (n.*714G>C)
c.2224G>C
c.2245G>C (p.Ala749Pro)
c.*1708G>C (n.*1708G>C)
c.*831G>C (n.*831G>C)
c.1218G>C
c.2122G>C (p.Ala708Pro)
c.2233G>C (p.Ala745Pro)
c.2287G>C (p.Ala763Pro)
n.489G>C
c.2176G>C (p.Ala726Pro)
n.582+9970C>G
c.1861G>C (p.Ala621Pro)
c.1858G>C (p.Ala620Pro)
n.2649G>C
n.2484G>C
n.476-11640C>G
n.600+9970C>G
3g.193658950G>TCA355791898OPA1c.2395G>T (p.Ala799Ser)
c.2230G>T (p.Ala744Ser)
c.2341G>T (p.Ala781Ser)
c.2284G>T (p.Ala762Ser)
c.2169G>T
c.*455G>T (n.*455G>T)
c.1912G>T (p.Ala638Ser)
c.*2311G>T (n.*2311G>T)
c.1817G>T
c.*714G>T (n.*714G>T)
c.2224G>T
c.2245G>T (p.Ala749Ser)
c.*1708G>T (n.*1708G>T)
c.*831G>T (n.*831G>T)
c.1218G>T
c.2122G>T (p.Ala708Ser)
c.2233G>T (p.Ala745Ser)
c.2287G>T (p.Ala763Ser)
n.489G>T
c.2176G>T (p.Ala726Ser)
n.582+9970C>A
c.1861G>T (p.Ala621Ser)
c.1858G>T (p.Ala620Ser)
n.2649G>T
n.2484G>T
n.476-11640C>A
n.600+9970C>A
 gnomAD v4
3g.193658951C>ACA355791903OPA1c.2396C>A (p.Ala799Asp)
c.2231C>A (p.Ala744Asp)
c.2342C>A (p.Ala781Asp)
c.2285C>A (p.Ala762Asp)
c.2170C>A
c.*456C>A (n.*456C>A)
c.1913C>A (p.Ala638Asp)
c.*2312C>A (n.*2312C>A)
c.1818C>A
c.*715C>A (n.*715C>A)
c.2225C>A
c.2246C>A (p.Ala749Asp)
c.*1709C>A (n.*1709C>A)
c.*832C>A (n.*832C>A)
c.1219C>A
c.2123C>A (p.Ala708Asp)
c.2234C>A (p.Ala745Asp)
c.2288C>A (p.Ala763Asp)
n.490C>A
c.2177C>A (p.Ala726Asp)
n.582+9969G>T
c.1862C>A (p.Ala621Asp)
c.1859C>A (p.Ala620Asp)
n.2650C>A
n.2485C>A
n.476-11641G>T
n.600+9969G>T
3g.193658951C>GCA355791902OPA1c.2396C>G (p.Ala799Gly)
c.2231C>G (p.Ala744Gly)
c.2342C>G (p.Ala781Gly)
c.2285C>G (p.Ala762Gly)
c.2170C>G
c.*456C>G (n.*456C>G)
c.1913C>G (p.Ala638Gly)
c.*2312C>G (n.*2312C>G)
c.1818C>G
c.*715C>G (n.*715C>G)
c.2225C>G
c.2246C>G (p.Ala749Gly)
c.*1709C>G (n.*1709C>G)
c.*832C>G (n.*832C>G)
c.1219C>G
c.2123C>G (p.Ala708Gly)
c.2234C>G (p.Ala745Gly)
c.2288C>G (p.Ala763Gly)
n.490C>G
c.2177C>G (p.Ala726Gly)
n.582+9969G>C
c.1862C>G (p.Ala621Gly)
c.1859C>G (p.Ala620Gly)
n.2650C>G
n.2485C>G
n.476-11641G>C
n.600+9969G>C
3g.193658951C>TCA355791900OPA1c.2396C>T (p.Ala799Val)
c.2231C>T (p.Ala744Val)
c.2342C>T (p.Ala781Val)
c.2285C>T (p.Ala762Val)
c.2170C>T
c.*456C>T (n.*456C>T)
c.1913C>T (p.Ala638Val)
c.*2312C>T (n.*2312C>T)
c.1818C>T
c.*715C>T (n.*715C>T)
c.2225C>T
c.2246C>T (p.Ala749Val)
c.*1709C>T (n.*1709C>T)
c.*832C>T (n.*832C>T)
c.1219C>T
c.2123C>T (p.Ala708Val)
c.2234C>T (p.Ala745Val)
c.2288C>T (p.Ala763Val)
n.490C>T
c.2177C>T (p.Ala726Val)
n.582+9969G>A
c.1862C>T (p.Ala621Val)
c.1859C>T (p.Ala620Val)
n.2650C>T
n.2485C>T
n.476-11641G>A
n.600+9969G>A
3g.193658952T>ACA2759641OPA1c.2397T>A (p.Ala799=)
c.2232T>A (p.Ala744=)
c.2343T>A (p.Ala781=)
c.2286T>A (p.Ala762=)
c.2171T>A
c.*457T>A (n.*457T>A)
c.1914T>A (p.Ala638=)
c.*2313T>A (n.*2313T>A)
c.1819T>A
c.*716T>A (n.*716T>A)
c.2226T>A
c.2247T>A (p.Ala749=)
c.*1710T>A (n.*1710T>A)
c.*833T>A (n.*833T>A)
c.1220T>A
c.2124T>A (p.Ala708=)
c.2235T>A (p.Ala745=)
c.2289T>A (p.Ala763=)
n.491T>A
c.2178T>A (p.Ala726=)
n.582+9968A>T
c.1863T>A (p.Ala621=)
c.1860T>A (p.Ala620=)
n.2651T>A
n.2486T>A
n.476-11642A>T
n.600+9968A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.193658952T>CCA437441295OPA1c.2397T>C (p.Ala799=)
c.2232T>C (p.Ala744=)
c.2343T>C (p.Ala781=)
c.2286T>C (p.Ala762=)
c.2171T>C
c.*457T>C (n.*457T>C)
c.1914T>C (p.Ala638=)
c.*2313T>C (n.*2313T>C)
c.1819T>C
c.*716T>C (n.*716T>C)
c.2226T>C
c.2247T>C (p.Ala749=)
c.*1710T>C (n.*1710T>C)
c.*833T>C (n.*833T>C)
c.1220T>C
c.2124T>C (p.Ala708=)
c.2235T>C (p.Ala745=)
c.2289T>C (p.Ala763=)
n.491T>C
c.2178T>C (p.Ala726=)
n.582+9968A>G
c.1863T>C (p.Ala621=)
c.1860T>C (p.Ala620=)
n.2651T>C
n.2486T>C
n.476-11642A>G
n.600+9968A>G
3g.193658952T>GCA437441296OPA1c.2397T>G (p.Ala799=)
c.2232T>G (p.Ala744=)
c.2343T>G (p.Ala781=)
c.2286T>G (p.Ala762=)
c.2171T>G
c.*457T>G (n.*457T>G)
c.1914T>G (p.Ala638=)
c.*2313T>G (n.*2313T>G)
c.1819T>G
c.*716T>G (n.*716T>G)
c.2226T>G
c.2247T>G (p.Ala749=)
c.*1710T>G (n.*1710T>G)
c.*833T>G (n.*833T>G)
c.1220T>G
c.2124T>G (p.Ala708=)
c.2235T>G (p.Ala745=)
c.2289T>G (p.Ala763=)
n.491T>G
c.2178T>G (p.Ala726=)
n.582+9968A>C
c.1863T>G (p.Ala621=)
c.1860T>G (p.Ala620=)
n.2651T>G
n.2486T>G
n.476-11642A>C
n.600+9968A>C
 gnomAD v4
3g.193658952T=CA1430265086OPA1c.2397T= (p.Ala799=)
c.2232T= (p.Ala744=)
c.2343T= (p.Ala781=)
c.2286T= (p.Ala762=)
c.2171T=
c.*457T= (n.*457T=)
c.1914T= (p.Ala638=)
c.*2313T= (n.*2313T=)
c.1819T=
c.*716T= (n.*716T=)
c.2226T=
c.2247T= (p.Ala749=)
c.*1710T= (n.*1710T=)
c.*833T= (n.*833T=)
c.1220T=
c.2124T= (p.Ala708=)
c.2235T= (p.Ala745=)
c.2289T= (p.Ala763=)
n.491T=
c.2178T= (p.Ala726=)
n.582+9968A=
c.1863T= (p.Ala621=)
c.1860T= (p.Ala620=)
n.2651T=
n.2486T=
n.476-11642A=
n.600+9968A=
3g.193658957_193658960delCA2586973378OPA1c.2402_2405del (p.Tyr801LeufsTer?)
c.2237_2240del (p.Tyr746LeufsTer?)
c.2348_2351del (p.Tyr783LeufsTer?)
c.2291_2294del (p.Tyr764LeufsTer?)
c.2176_2179del
c.*462_*465del (n.*462_*465del)
c.1919_1922del (p.Tyr640LeufsTer?)
c.*2318_*2321del (n.*2318_*2321del)
c.1824_1827del
c.*721_*724del (n.*721_*724del)
c.2231_2234del
c.2252_2255del (p.Tyr751LeufsTer?)
c.*1715_*1718del (n.*1715_*1718del)
c.*838_*841del (n.*838_*841del)
c.1225_1228del
c.2129_2132del (p.Tyr710LeufsTer?)
c.2240_2243del (p.Tyr747LeufsTer?)
c.2294_2297del (p.Tyr765LeufsTer?)
n.496_499del
c.2183_2186del (p.Tyr728LeufsTer?)
n.582+9965_582+9968del
c.1868_1871del (p.Tyr623LeufsTer?)
c.1865_1868del (p.Tyr622LeufsTer?)
n.2656_2659del
n.2491_2494del
n.476-11645_476-11642del
n.600+9965_600+9968del
3g.193658953A=CA1430265087OPA1c.2398A= (p.Ile800=)
c.2233A= (p.Ile745=)
c.2344A= (p.Ile782=)
c.2287A= (p.Ile763=)
c.2172A=
c.*458A= (n.*458A=)
c.1915A= (p.Ile639=)
c.*2314A= (n.*2314A=)
c.1820A=
c.*717A= (n.*717A=)
c.2227A=
c.2248A= (p.Ile750=)
c.*1711A= (n.*1711A=)
c.*834A= (n.*834A=)
c.1221A=
c.2125A= (p.Ile709=)
c.2236A= (p.Ile746=)
c.2290A= (p.Ile764=)
n.492A=
c.2179A= (p.Ile727=)
n.582+9967T=
c.1864A= (p.Ile622=)
c.1861A= (p.Ile621=)
n.2652A=
n.2487A=
n.476-11643T=
n.600+9967T=
3g.193658953A>CCA355791907OPA1c.2398A>C (p.Ile800Leu)
c.2233A>C (p.Ile745Leu)
c.2344A>C (p.Ile782Leu)
c.2287A>C (p.Ile763Leu)
c.2172A>C
c.*458A>C (n.*458A>C)
c.1915A>C (p.Ile639Leu)
c.*2314A>C (n.*2314A>C)
c.1820A>C
c.*717A>C (n.*717A>C)
c.2227A>C
c.2248A>C (p.Ile750Leu)
c.*1711A>C (n.*1711A>C)
c.*834A>C (n.*834A>C)
c.1221A>C
c.2125A>C (p.Ile709Leu)
c.2236A>C (p.Ile746Leu)
c.2290A>C (p.Ile764Leu)
n.492A>C
c.2179A>C (p.Ile727Leu)
n.582+9967T>G
c.1864A>C (p.Ile622Leu)
c.1861A>C (p.Ile621Leu)
n.2652A>C
n.2487A>C
n.476-11643T>G
n.600+9967T>G
3g.193658953A>GCA355791909OPA1c.2398A>G (p.Ile800Val)
c.2233A>G (p.Ile745Val)
c.2344A>G (p.Ile782Val)
c.2287A>G (p.Ile763Val)
c.2172A>G
c.*458A>G (n.*458A>G)
c.1915A>G (p.Ile639Val)
c.*2314A>G (n.*2314A>G)
c.1820A>G
c.*717A>G (n.*717A>G)
c.2227A>G
c.2248A>G (p.Ile750Val)
c.*1711A>G (n.*1711A>G)
c.*834A>G (n.*834A>G)
c.1221A>G
c.2125A>G (p.Ile709Val)
c.2236A>G (p.Ile746Val)
c.2290A>G (p.Ile764Val)
n.492A>G
c.2179A>G (p.Ile727Val)
n.582+9967T>C
c.1864A>G (p.Ile622Val)
c.1861A>G (p.Ile621Val)
n.2652A>G
n.2487A>G
n.476-11643T>C
n.600+9967T>C
 dbSNP gnomAD v4
3g.193658953A>TCA355791911OPA1c.2398A>T (p.Ile800Phe)
c.2233A>T (p.Ile745Phe)
c.2344A>T (p.Ile782Phe)
c.2287A>T (p.Ile763Phe)
c.2172A>T
c.*458A>T (n.*458A>T)
c.1915A>T (p.Ile639Phe)
c.*2314A>T (n.*2314A>T)
c.1820A>T
c.*717A>T (n.*717A>T)
c.2227A>T
c.2248A>T (p.Ile750Phe)
c.*1711A>T (n.*1711A>T)
c.*834A>T (n.*834A>T)
c.1221A>T
c.2125A>T (p.Ile709Phe)
c.2236A>T (p.Ile746Phe)
c.2290A>T (p.Ile764Phe)
n.492A>T
c.2179A>T (p.Ile727Phe)
n.582+9967T>A
c.1864A>T (p.Ile622Phe)
c.1861A>T (p.Ile621Phe)
n.2652A>T
n.2487A>T
n.476-11643T>A
n.600+9967T>A
3g.193658954T>ACA355791913OPA1c.2399T>A (p.Ile800Asn)
c.2234T>A (p.Ile745Asn)
c.2345T>A (p.Ile782Asn)
c.2288T>A (p.Ile763Asn)
c.2173T>A
c.*459T>A (n.*459T>A)
c.1916T>A (p.Ile639Asn)
c.*2315T>A (n.*2315T>A)
c.1821T>A
c.*718T>A (n.*718T>A)
c.2228T>A
c.2249T>A (p.Ile750Asn)
c.*1712T>A (n.*1712T>A)
c.*835T>A (n.*835T>A)
c.1222T>A
c.2126T>A (p.Ile709Asn)
c.2237T>A (p.Ile746Asn)
c.2291T>A (p.Ile764Asn)
n.493T>A
c.2180T>A (p.Ile727Asn)
n.582+9966A>T
c.1865T>A (p.Ile622Asn)
c.1862T>A (p.Ile621Asn)
n.2653T>A
n.2488T>A
n.476-11644A>T
n.600+9966A>T
3g.193658954T>CCA355791915OPA1c.2399T>C (p.Ile800Thr)
c.2234T>C (p.Ile745Thr)
c.2345T>C (p.Ile782Thr)
c.2288T>C (p.Ile763Thr)
c.2173T>C
c.*459T>C (n.*459T>C)
c.1916T>C (p.Ile639Thr)
c.*2315T>C (n.*2315T>C)
c.1821T>C
c.*718T>C (n.*718T>C)
c.2228T>C
c.2249T>C (p.Ile750Thr)
c.*1712T>C (n.*1712T>C)
c.*835T>C (n.*835T>C)
c.1222T>C
c.2126T>C (p.Ile709Thr)
c.2237T>C (p.Ile746Thr)
c.2291T>C (p.Ile764Thr)
n.493T>C
c.2180T>C (p.Ile727Thr)
n.582+9966A>G
c.1865T>C (p.Ile622Thr)
c.1862T>C (p.Ile621Thr)
n.2653T>C
n.2488T>C
n.476-11644A>G
n.600+9966A>G
3g.193658954T>GCA355791917OPA1c.2399T>G (p.Ile800Ser)
c.2234T>G (p.Ile745Ser)
c.2345T>G (p.Ile782Ser)
c.2288T>G (p.Ile763Ser)
c.2173T>G
c.*459T>G (n.*459T>G)
c.1916T>G (p.Ile639Ser)
c.*2315T>G (n.*2315T>G)
c.1821T>G
c.*718T>G (n.*718T>G)
c.2228T>G
c.2249T>G (p.Ile750Ser)
c.*1712T>G (n.*1712T>G)
c.*835T>G (n.*835T>G)
c.1222T>G
c.2126T>G (p.Ile709Ser)
c.2237T>G (p.Ile746Ser)
c.2291T>G (p.Ile764Ser)
n.493T>G
c.2180T>G (p.Ile727Ser)
n.582+9966A>C
c.1865T>G (p.Ile622Ser)
c.1862T>G (p.Ile621Ser)
n.2653T>G
n.2488T>G
n.476-11644A>C
n.600+9966A>C
3g.193658955T>ACA437441304OPA1c.2400T>A (p.Ile800=)
c.2235T>A (p.Ile745=)
c.2346T>A (p.Ile782=)
c.2289T>A (p.Ile763=)
c.2174T>A
c.*460T>A (n.*460T>A)
c.1917T>A (p.Ile639=)
c.*2316T>A (n.*2316T>A)
c.1822T>A
c.*719T>A (n.*719T>A)
c.2229T>A
c.2250T>A (p.Ile750=)
c.*1713T>A (n.*1713T>A)
c.*836T>A (n.*836T>A)
c.1223T>A
c.2127T>A (p.Ile709=)
c.2238T>A (p.Ile746=)
c.2292T>A (p.Ile764=)
n.494T>A
c.2181T>A (p.Ile727=)
n.582+9965A>T
c.1866T>A (p.Ile622=)
c.1863T>A (p.Ile621=)
n.2654T>A
n.2489T>A
n.476-11645A>T
n.600+9965A>T
3g.193658955T>CCA437441306OPA1c.2400T>C (p.Ile800=)
c.2235T>C (p.Ile745=)
c.2346T>C (p.Ile782=)
c.2289T>C (p.Ile763=)
c.2174T>C
c.*460T>C (n.*460T>C)
c.1917T>C (p.Ile639=)
c.*2316T>C (n.*2316T>C)
c.1822T>C
c.*719T>C (n.*719T>C)
c.2229T>C
c.2250T>C (p.Ile750=)
c.*1713T>C (n.*1713T>C)
c.*836T>C (n.*836T>C)
c.1223T>C
c.2127T>C (p.Ile709=)
c.2238T>C (p.Ile746=)
c.2292T>C (p.Ile764=)
n.494T>C
c.2181T>C (p.Ile727=)
n.582+9965A>G
c.1866T>C (p.Ile622=)
c.1863T>C (p.Ile621=)
n.2654T>C
n.2489T>C
n.476-11645A>G
n.600+9965A>G
3g.193658955T>GCA355791919OPA1c.2400T>G (p.Ile800Met)
c.2235T>G (p.Ile745Met)
c.2346T>G (p.Ile782Met)
c.2289T>G (p.Ile763Met)
c.2174T>G
c.*460T>G (n.*460T>G)
c.1917T>G (p.Ile639Met)
c.*2316T>G (n.*2316T>G)
c.1822T>G
c.*719T>G (n.*719T>G)
c.2229T>G
c.2250T>G (p.Ile750Met)
c.*1713T>G (n.*1713T>G)
c.*836T>G (n.*836T>G)
c.1223T>G
c.2127T>G (p.Ile709Met)
c.2238T>G (p.Ile746Met)
c.2292T>G (p.Ile764Met)
n.494T>G
c.2181T>G (p.Ile727Met)
n.582+9965A>C
c.1866T>G (p.Ile622Met)
c.1863T>G (p.Ile621Met)
n.2654T>G
n.2489T>G
n.476-11645A>C
n.600+9965A>C
3g.193658956T>ACA355791923OPA1c.2401T>A (p.Tyr801Asn)
c.2236T>A (p.Tyr746Asn)
c.2347T>A (p.Tyr783Asn)
c.2290T>A (p.Tyr764Asn)
c.2175T>A
c.*461T>A (n.*461T>A)
c.1918T>A (p.Tyr640Asn)
c.*2317T>A (n.*2317T>A)
c.1823T>A
c.*720T>A (n.*720T>A)
c.2230T>A
c.2251T>A (p.Tyr751Asn)
c.*1714T>A (n.*1714T>A)
c.*837T>A (n.*837T>A)
c.1224T>A
c.2128T>A (p.Tyr710Asn)
c.2239T>A (p.Tyr747Asn)
c.2293T>A (p.Tyr765Asn)
n.495T>A
c.2182T>A (p.Tyr728Asn)
n.582+9964A>T
c.1867T>A (p.Tyr623Asn)
c.1864T>A (p.Tyr622Asn)
n.2655T>A
n.2490T>A
n.476-11646A>T
n.600+9964A>T
3g.193658956T>CCA355791925OPA1c.2401T>C (p.Tyr801His)
c.2236T>C (p.Tyr746His)
c.2347T>C (p.Tyr783His)
c.2290T>C (p.Tyr764His)
c.2175T>C
c.*461T>C (n.*461T>C)
c.1918T>C (p.Tyr640His)
c.*2317T>C (n.*2317T>C)
c.1823T>C
c.*720T>C (n.*720T>C)
c.2230T>C
c.2251T>C (p.Tyr751His)
c.*1714T>C (n.*1714T>C)
c.*837T>C (n.*837T>C)
c.1224T>C
c.2128T>C (p.Tyr710His)
c.2239T>C (p.Tyr747His)
c.2293T>C (p.Tyr765His)
n.495T>C
c.2182T>C (p.Tyr728His)
n.582+9964A>G
c.1867T>C (p.Tyr623His)
c.1864T>C (p.Tyr622His)
n.2655T>C
n.2490T>C
n.476-11646A>G
n.600+9964A>G
3g.193658956T>GCA355791927OPA1c.2401T>G (p.Tyr801Asp)
c.2236T>G (p.Tyr746Asp)
c.2347T>G (p.Tyr783Asp)
c.2290T>G (p.Tyr764Asp)
c.2175T>G
c.*461T>G (n.*461T>G)
c.1918T>G (p.Tyr640Asp)
c.*2317T>G (n.*2317T>G)
c.1823T>G
c.*720T>G (n.*720T>G)
c.2230T>G
c.2251T>G (p.Tyr751Asp)
c.*1714T>G (n.*1714T>G)
c.*837T>G (n.*837T>G)
c.1224T>G
c.2128T>G (p.Tyr710Asp)
c.2239T>G (p.Tyr747Asp)
c.2293T>G (p.Tyr765Asp)
n.495T>G
c.2182T>G (p.Tyr728Asp)
n.582+9964A>C
c.1867T>G (p.Tyr623Asp)
c.1864T>G (p.Tyr622Asp)
n.2655T>G
n.2490T>G
n.476-11646A>C
n.600+9964A>C
3g.193658957A>CCA355791935OPA1c.2402A>C (p.Tyr801Ser)
c.2237A>C (p.Tyr746Ser)
c.2348A>C (p.Tyr783Ser)
c.2291A>C (p.Tyr764Ser)
c.2176A>C
c.*462A>C (n.*462A>C)
c.1919A>C (p.Tyr640Ser)
c.*2318A>C (n.*2318A>C)
c.1824A>C
c.*721A>C (n.*721A>C)
c.2231A>C
c.2252A>C (p.Tyr751Ser)
c.*1715A>C (n.*1715A>C)
c.*838A>C (n.*838A>C)
c.1225A>C
c.2129A>C (p.Tyr710Ser)
c.2240A>C (p.Tyr747Ser)
c.2294A>C (p.Tyr765Ser)
n.496A>C
c.2183A>C (p.Tyr728Ser)
n.582+9963T>G
c.1868A>C (p.Tyr623Ser)
c.1865A>C (p.Tyr622Ser)
n.2656A>C
n.2491A>C
n.476-11647T>G
n.600+9963T>G
3g.193658957A>GCA355791933OPA1c.2402A>G (p.Tyr801Cys)
c.2237A>G (p.Tyr746Cys)
c.2348A>G (p.Tyr783Cys)
c.2291A>G (p.Tyr764Cys)
c.2176A>G
c.*462A>G (n.*462A>G)
c.1919A>G (p.Tyr640Cys)
c.*2318A>G (n.*2318A>G)
c.1824A>G
c.*721A>G (n.*721A>G)
c.2231A>G
c.2252A>G (p.Tyr751Cys)
c.*1715A>G (n.*1715A>G)
c.*838A>G (n.*838A>G)
c.1225A>G
c.2129A>G (p.Tyr710Cys)
c.2240A>G (p.Tyr747Cys)
c.2294A>G (p.Tyr765Cys)
n.496A>G
c.2183A>G (p.Tyr728Cys)
n.582+9963T>C
c.1868A>G (p.Tyr623Cys)
c.1865A>G (p.Tyr622Cys)
n.2656A>G
n.2491A>G
n.476-11647T>C
n.600+9963T>C
 gnomAD v4
3g.193658957A>TCA355791931OPA1c.2402A>T (p.Tyr801Phe)
c.2237A>T (p.Tyr746Phe)
c.2348A>T (p.Tyr783Phe)
c.2291A>T (p.Tyr764Phe)
c.2176A>T
c.*462A>T (n.*462A>T)
c.1919A>T (p.Tyr640Phe)
c.*2318A>T (n.*2318A>T)
c.1824A>T
c.*721A>T (n.*721A>T)
c.2231A>T
c.2252A>T (p.Tyr751Phe)
c.*1715A>T (n.*1715A>T)
c.*838A>T (n.*838A>T)
c.1225A>T
c.2129A>T (p.Tyr710Phe)
c.2240A>T (p.Tyr747Phe)
c.2294A>T (p.Tyr765Phe)
n.496A>T
c.2183A>T (p.Tyr728Phe)
n.582+9963T>A
c.1868A>T (p.Tyr623Phe)
c.1865A>T (p.Tyr622Phe)
n.2656A>T
n.2491A>T
n.476-11647T>A
n.600+9963T>A
3g.193658957_193658958delinsATCA1430265090OPA1c.2402_2403delinsAT (p.Tyr801=)
c.2237_2238delinsAT (p.Tyr746=)
c.2348_2349delinsAT (p.Tyr783=)
c.2291_2292delinsAT (p.Tyr764=)
c.2176_2177delinsAT
c.*462_*463delinsAT (n.*462_*463delinsAT)
c.1919_1920delinsAT (p.Tyr640=)
c.*2318_*2319delinsAT (n.*2318_*2319delinsAT)
c.1824_1825delinsAT
c.*721_*722delinsAT (n.*721_*722delinsAT)
c.2231_2232delinsAT
c.2252_2253delinsAT (p.Tyr751=)
c.*1715_*1716delinsAT (n.*1715_*1716delinsAT)
c.*838_*839delinsAT (n.*838_*839delinsAT)
c.1225_1226delinsAT
c.2129_2130delinsAT (p.Tyr710=)
c.2240_2241delinsAT (p.Tyr747=)
c.2294_2295delinsAT (p.Tyr765=)
n.496_497delinsAT
c.2183_2184delinsAT (p.Tyr728=)
n.582+9962_582+9963delinsAT
c.1868_1869delinsAT (p.Tyr623=)
c.1865_1866delinsAT (p.Tyr622=)
n.2656_2657delinsAT
n.2491_2492delinsAT
n.476-11648_476-11647delinsAT
n.600+9962_600+9963delinsAT
3g.193658958T>ACA355791936OPA1c.2403T>A (p.Tyr801Ter)
c.2238T>A (p.Tyr746Ter)
c.2349T>A (p.Tyr783Ter)
c.2292T>A (p.Tyr764Ter)
c.2177T>A
c.*463T>A (n.*463T>A)
c.1920T>A (p.Tyr640Ter)
c.*2319T>A (n.*2319T>A)
c.1825T>A
c.*722T>A (n.*722T>A)
c.2232T>A
c.2253T>A (p.Tyr751Ter)
c.*1716T>A (n.*1716T>A)
c.*839T>A (n.*839T>A)
c.1226T>A
c.2130T>A (p.Tyr710Ter)
c.2241T>A (p.Tyr747Ter)
c.2295T>A (p.Tyr765Ter)
n.497T>A
c.2184T>A (p.Tyr728Ter)
n.582+9962A>T
c.1869T>A (p.Tyr623Ter)
c.1866T>A (p.Tyr622Ter)
n.2657T>A
n.2492T>A
n.476-11648A>T
n.600+9962A>T
3g.193658958T>CCA437441314OPA1c.2403T>C (p.Tyr801=)
c.2238T>C (p.Tyr746=)
c.2349T>C (p.Tyr783=)
c.2292T>C (p.Tyr764=)
c.2177T>C
c.*463T>C (n.*463T>C)
c.1920T>C (p.Tyr640=)
c.*2319T>C (n.*2319T>C)
c.1825T>C
c.*722T>C (n.*722T>C)
c.2232T>C
c.2253T>C (p.Tyr751=)
c.*1716T>C (n.*1716T>C)
c.*839T>C (n.*839T>C)
c.1226T>C
c.2130T>C (p.Tyr710=)
c.2241T>C (p.Tyr747=)
c.2295T>C (p.Tyr765=)
n.497T>C
c.2184T>C (p.Tyr728=)
n.582+9962A>G
c.1869T>C (p.Tyr623=)
c.1866T>C (p.Tyr622=)
n.2657T>C
n.2492T>C
n.476-11648A>G
n.600+9962A>G
 gnomAD v4
3g.193658958T>GCA355791937OPA1c.2403T>G (p.Tyr801Ter)
c.2238T>G (p.Tyr746Ter)
c.2349T>G (p.Tyr783Ter)
c.2292T>G (p.Tyr764Ter)
c.2177T>G
c.*463T>G (n.*463T>G)
c.1920T>G (p.Tyr640Ter)
c.*2319T>G (n.*2319T>G)
c.1825T>G
c.*722T>G (n.*722T>G)
c.2232T>G
c.2253T>G (p.Tyr751Ter)
c.*1716T>G (n.*1716T>G)
c.*839T>G (n.*839T>G)
c.1226T>G
c.2130T>G (p.Tyr710Ter)
c.2241T>G (p.Tyr747Ter)
c.2295T>G (p.Tyr765Ter)
n.497T>G
c.2184T>G (p.Tyr728Ter)
n.582+9962A>C
c.1869T>G (p.Tyr623Ter)
c.1866T>G (p.Tyr622Ter)
n.2657T>G
n.2492T>G
n.476-11648A>C
n.600+9962A>C
3g.193658961delCA658657366OPA1c.2406del (p.Phe802LeufsTer?)
c.2241del (p.Phe747LeufsTer?)
c.2352del (p.Phe784LeufsTer?)
c.2295del (p.Phe765LeufsTer?)
c.2180del
c.*466del (n.*466del)
c.1923del (p.Phe641LeufsTer?)
c.*2322del (n.*2322del)
c.1828del
c.*725del (n.*725del)
c.2235del
c.2256del (p.Phe752LeufsTer?)
c.*1719del (n.*1719del)
c.*842del (n.*842del)
c.1229del
c.2133del (p.Phe711LeufsTer?)
c.2244del (p.Phe748LeufsTer?)
c.2298del (p.Phe766LeufsTer?)
n.500del
c.2187del (p.Phe729LeufsTer?)
n.582+9962del
c.1872del (p.Phe624LeufsTer?)
c.1869del (p.Phe623LeufsTer?)
n.2660del
n.2495del
n.476-11648del
n.600+9962del
 ClinVar dbSNP
3g.193658959T>ACA355791938OPA1c.2404T>A (p.Phe802Ile)
c.2239T>A (p.Phe747Ile)
c.2350T>A (p.Phe784Ile)
c.2293T>A (p.Phe765Ile)
c.2178T>A
c.*464T>A (n.*464T>A)
c.1921T>A (p.Phe641Ile)
c.*2320T>A (n.*2320T>A)
c.1826T>A
c.*723T>A (n.*723T>A)
c.2233T>A
c.2254T>A (p.Phe752Ile)
c.*1717T>A (n.*1717T>A)
c.*840T>A (n.*840T>A)
c.1227T>A
c.2131T>A (p.Phe711Ile)
c.2242T>A (p.Phe748Ile)
c.2296T>A (p.Phe766Ile)
n.498T>A
c.2185T>A (p.Phe729Ile)
n.582+9961A>T
c.1870T>A (p.Phe624Ile)
c.1867T>A (p.Phe623Ile)
n.2658T>A
n.2493T>A
n.476-11649A>T
n.600+9961A>T
3g.193658959T>CCA355791939OPA1c.2404T>C (p.Phe802Leu)
c.2239T>C (p.Phe747Leu)
c.2350T>C (p.Phe784Leu)
c.2293T>C (p.Phe765Leu)
c.2178T>C
c.*464T>C (n.*464T>C)
c.1921T>C (p.Phe641Leu)
c.*2320T>C (n.*2320T>C)
c.1826T>C
c.*723T>C (n.*723T>C)
c.2233T>C
c.2254T>C (p.Phe752Leu)
c.*1717T>C (n.*1717T>C)
c.*840T>C (n.*840T>C)
c.1227T>C
c.2131T>C (p.Phe711Leu)
c.2242T>C (p.Phe748Leu)
c.2296T>C (p.Phe766Leu)
n.498T>C
c.2185T>C (p.Phe729Leu)
n.582+9961A>G
c.1870T>C (p.Phe624Leu)
c.1867T>C (p.Phe623Leu)
n.2658T>C
n.2493T>C
n.476-11649A>G
n.600+9961A>G
3g.193658959T>GCA355791940OPA1c.2404T>G (p.Phe802Val)
c.2239T>G (p.Phe747Val)
c.2350T>G (p.Phe784Val)
c.2293T>G (p.Phe765Val)
c.2178T>G
c.*464T>G (n.*464T>G)
c.1921T>G (p.Phe641Val)
c.*2320T>G (n.*2320T>G)
c.1826T>G
c.*723T>G (n.*723T>G)
c.2233T>G
c.2254T>G (p.Phe752Val)
c.*1717T>G (n.*1717T>G)
c.*840T>G (n.*840T>G)
c.1227T>G
c.2131T>G (p.Phe711Val)
c.2242T>G (p.Phe748Val)
c.2296T>G (p.Phe766Val)
n.498T>G
c.2185T>G (p.Phe729Val)
n.582+9961A>C
c.1870T>G (p.Phe624Val)
c.1867T>G (p.Phe623Val)
n.2658T>G
n.2493T>G
n.476-11649A>C
n.600+9961A>C
3g.193658960T>ACA355791941OPA1c.2405T>A (p.Phe802Tyr)
c.2240T>A (p.Phe747Tyr)
c.2351T>A (p.Phe784Tyr)
c.2294T>A (p.Phe765Tyr)
c.2179T>A
c.*465T>A (n.*465T>A)
c.1922T>A (p.Phe641Tyr)
c.*2321T>A (n.*2321T>A)
c.1827T>A
c.*724T>A (n.*724T>A)
c.2234T>A
c.2255T>A (p.Phe752Tyr)
c.*1718T>A (n.*1718T>A)
c.*841T>A (n.*841T>A)
c.1228T>A
c.2132T>A (p.Phe711Tyr)
c.2243T>A (p.Phe748Tyr)
c.2297T>A (p.Phe766Tyr)
n.499T>A
c.2186T>A (p.Phe729Tyr)
n.582+9960A>T
c.1871T>A (p.Phe624Tyr)
c.1868T>A (p.Phe623Tyr)
n.2659T>A
n.2494T>A
n.476-11650A>T
n.600+9960A>T
3g.193658960T>CCA355791942OPA1c.2405T>C (p.Phe802Ser)
c.2240T>C (p.Phe747Ser)
c.2351T>C (p.Phe784Ser)
c.2294T>C (p.Phe765Ser)
c.2179T>C
c.*465T>C (n.*465T>C)
c.1922T>C (p.Phe641Ser)
c.*2321T>C (n.*2321T>C)
c.1827T>C
c.*724T>C (n.*724T>C)
c.2234T>C
c.2255T>C (p.Phe752Ser)
c.*1718T>C (n.*1718T>C)
c.*841T>C (n.*841T>C)
c.1228T>C
c.2132T>C (p.Phe711Ser)
c.2243T>C (p.Phe748Ser)
c.2297T>C (p.Phe766Ser)
n.499T>C
c.2186T>C (p.Phe729Ser)
n.582+9960A>G
c.1871T>C (p.Phe624Ser)
c.1868T>C (p.Phe623Ser)
n.2659T>C
n.2494T>C
n.476-11650A>G
n.600+9960A>G
3g.193658960T>GCA355791944OPA1c.2405T>G (p.Phe802Cys)
c.2240T>G (p.Phe747Cys)
c.2351T>G (p.Phe784Cys)
c.2294T>G (p.Phe765Cys)
c.2179T>G
c.*465T>G (n.*465T>G)
c.1922T>G (p.Phe641Cys)
c.*2321T>G (n.*2321T>G)
c.1827T>G
c.*724T>G (n.*724T>G)
c.2234T>G
c.2255T>G (p.Phe752Cys)
c.*1718T>G (n.*1718T>G)
c.*841T>G (n.*841T>G)
c.1228T>G
c.2132T>G (p.Phe711Cys)
c.2243T>G (p.Phe748Cys)
c.2297T>G (p.Phe766Cys)
n.499T>G
c.2186T>G (p.Phe729Cys)
n.582+9960A>C
c.1871T>G (p.Phe624Cys)
c.1868T>G (p.Phe623Cys)
n.2659T>G
n.2494T>G
n.476-11650A>C
n.600+9960A>C
3g.193658961T>ACA355791946OPA1c.2406T>A (p.Phe802Leu)
c.2241T>A (p.Phe747Leu)
c.2352T>A (p.Phe784Leu)
c.2295T>A (p.Phe765Leu)
c.2180T>A
c.*466T>A (n.*466T>A)
c.1923T>A (p.Phe641Leu)
c.*2322T>A (n.*2322T>A)
c.1828T>A
c.*725T>A (n.*725T>A)
c.2235T>A
c.2256T>A (p.Phe752Leu)
c.*1719T>A (n.*1719T>A)
c.*842T>A (n.*842T>A)
c.1229T>A
c.2133T>A (p.Phe711Leu)
c.2244T>A (p.Phe748Leu)
c.2298T>A (p.Phe766Leu)
n.500T>A
c.2187T>A (p.Phe729Leu)
n.582+9959A>T
c.1872T>A (p.Phe624Leu)
c.1869T>A (p.Phe623Leu)
n.2660T>A
n.2495T>A
n.476-11651A>T
n.600+9959A>T
3g.193658961T>CCA437441323OPA1c.2406T>C (p.Phe802=)
c.2241T>C (p.Phe747=)
c.2352T>C (p.Phe784=)
c.2295T>C (p.Phe765=)
c.2180T>C
c.*466T>C (n.*466T>C)
c.1923T>C (p.Phe641=)
c.*2322T>C (n.*2322T>C)
c.1828T>C
c.*725T>C (n.*725T>C)
c.2235T>C
c.2256T>C (p.Phe752=)
c.*1719T>C (n.*1719T>C)
c.*842T>C (n.*842T>C)
c.1229T>C
c.2133T>C (p.Phe711=)
c.2244T>C (p.Phe748=)
c.2298T>C (p.Phe766=)
n.500T>C
c.2187T>C (p.Phe729=)
n.582+9959A>G
c.1872T>C (p.Phe624=)
c.1869T>C (p.Phe623=)
n.2660T>C
n.2495T>C
n.476-11651A>G
n.600+9959A>G
3g.193658961T>GCA355791948OPA1c.2406T>G (p.Phe802Leu)
c.2241T>G (p.Phe747Leu)
c.2352T>G (p.Phe784Leu)
c.2295T>G (p.Phe765Leu)
c.2180T>G
c.*466T>G (n.*466T>G)
c.1923T>G (p.Phe641Leu)
c.*2322T>G (n.*2322T>G)
c.1828T>G
c.*725T>G (n.*725T>G)
c.2235T>G
c.2256T>G (p.Phe752Leu)
c.*1719T>G (n.*1719T>G)
c.*842T>G (n.*842T>G)
c.1229T>G
c.2133T>G (p.Phe711Leu)
c.2244T>G (p.Phe748Leu)
c.2298T>G (p.Phe766Leu)
n.500T>G
c.2187T>G (p.Phe729Leu)
n.582+9959A>C
c.1872T>G (p.Phe624Leu)
c.1869T>G (p.Phe623Leu)
n.2660T>G
n.2495T>G
n.476-11651A>C
n.600+9959A>C
3g.193658962A=CA1430265098OPA1c.2407A= (p.Met803=)
c.2242A= (p.Met748=)
c.2353A= (p.Met785=)
c.2296A= (p.Met766=)
c.2181A=
c.*467A= (n.*467A=)
c.1924A= (p.Met642=)
c.*2323A= (n.*2323A=)
c.1829A=
c.*726A= (n.*726A=)
c.2236A=
c.2257A= (p.Met753=)
c.*1720A= (n.*1720A=)
c.*843A= (n.*843A=)
c.1230A=
c.2134A= (p.Met712=)
c.2245A= (p.Met749=)
c.2299A= (p.Met767=)
n.501A=
c.2188A= (p.Met730=)
n.582+9958T=
c.1873A= (p.Met625=)
c.1870A= (p.Met624=)
n.2661A=
n.2496A=
n.476-11652T=
n.600+9958T=
3g.193658962A>CCA355791950OPA1c.2407A>C (p.Met803Leu)
c.2242A>C (p.Met748Leu)
c.2353A>C (p.Met785Leu)
c.2296A>C (p.Met766Leu)
c.2181A>C
c.*467A>C (n.*467A>C)
c.1924A>C (p.Met642Leu)
c.*2323A>C (n.*2323A>C)
c.1829A>C
c.*726A>C (n.*726A>C)
c.2236A>C
c.2257A>C (p.Met753Leu)
c.*1720A>C (n.*1720A>C)
c.*843A>C (n.*843A>C)
c.1230A>C
c.2134A>C (p.Met712Leu)
c.2245A>C (p.Met749Leu)
c.2299A>C (p.Met767Leu)
n.501A>C
c.2188A>C (p.Met730Leu)
n.582+9958T>G
c.1873A>C (p.Met625Leu)
c.1870A>C (p.Met624Leu)
n.2661A>C
n.2496A>C
n.476-11652T>G
n.600+9958T>G
3g.193658962A>GCA355791952OPA1c.2407A>G (p.Met803Val)
c.2242A>G (p.Met748Val)
c.2353A>G (p.Met785Val)
c.2296A>G (p.Met766Val)
c.2181A>G
c.*467A>G (n.*467A>G)
c.1924A>G (p.Met642Val)
c.*2323A>G (n.*2323A>G)
c.1829A>G
c.*726A>G (n.*726A>G)
c.2236A>G
c.2257A>G (p.Met753Val)
c.*1720A>G (n.*1720A>G)
c.*843A>G (n.*843A>G)
c.1230A>G
c.2134A>G (p.Met712Val)
c.2245A>G (p.Met749Val)
c.2299A>G (p.Met767Val)
n.501A>G
c.2188A>G (p.Met730Val)
n.582+9958T>C
c.1873A>G (p.Met625Val)
c.1870A>G (p.Met624Val)
n.2661A>G
n.2496A>G
n.476-11652T>C
n.600+9958T>C
 dbSNP gnomAD v3 gnomAD v4
3g.193658962A>TCA355791954OPA1c.2407A>T (p.Met803Leu)
c.2242A>T (p.Met748Leu)
c.2353A>T (p.Met785Leu)
c.2296A>T (p.Met766Leu)
c.2181A>T
c.*467A>T (n.*467A>T)
c.1924A>T (p.Met642Leu)
c.*2323A>T (n.*2323A>T)
c.1829A>T
c.*726A>T (n.*726A>T)
c.2236A>T
c.2257A>T (p.Met753Leu)
c.*1720A>T (n.*1720A>T)
c.*843A>T (n.*843A>T)
c.1230A>T
c.2134A>T (p.Met712Leu)
c.2245A>T (p.Met749Leu)
c.2299A>T (p.Met767Leu)
n.501A>T
c.2188A>T (p.Met730Leu)
n.582+9958T>A
c.1873A>T (p.Met625Leu)
c.1870A>T (p.Met624Leu)
n.2661A>T
n.2496A>T
n.476-11652T>A
n.600+9958T>A
3g.193658963T>ACA355791961OPA1c.2408T>A (p.Met803Lys)
c.2243T>A (p.Met748Lys)
c.2354T>A (p.Met785Lys)
c.2297T>A (p.Met766Lys)
c.2182T>A
c.*468T>A (n.*468T>A)
c.1925T>A (p.Met642Lys)
c.*2324T>A (n.*2324T>A)
c.1830T>A
c.*727T>A (n.*727T>A)
c.2237T>A
c.2258T>A (p.Met753Lys)
c.*1721T>A (n.*1721T>A)
c.*844T>A (n.*844T>A)
c.1231T>A
c.2135T>A (p.Met712Lys)
c.2246T>A (p.Met749Lys)
c.2300T>A (p.Met767Lys)
n.502T>A
c.2189T>A (p.Met730Lys)
n.582+9957A>T
c.1874T>A (p.Met625Lys)
c.1871T>A (p.Met624Lys)
n.2662T>A
n.2497T>A
n.476-11653A>T
n.600+9957A>T
3g.193658963T>CCA355791957OPA1c.2408T>C (p.Met803Thr)
c.2243T>C (p.Met748Thr)
c.2354T>C (p.Met785Thr)
c.2297T>C (p.Met766Thr)
c.2182T>C
c.*468T>C (n.*468T>C)
c.1925T>C (p.Met642Thr)
c.*2324T>C (n.*2324T>C)
c.1830T>C
c.*727T>C (n.*727T>C)
c.2237T>C
c.2258T>C (p.Met753Thr)
c.*1721T>C (n.*1721T>C)
c.*844T>C (n.*844T>C)
c.1231T>C
c.2135T>C (p.Met712Thr)
c.2246T>C (p.Met749Thr)
c.2300T>C (p.Met767Thr)
n.502T>C
c.2189T>C (p.Met730Thr)
n.582+9957A>G
c.1874T>C (p.Met625Thr)
c.1871T>C (p.Met624Thr)
n.2662T>C
n.2497T>C
n.476-11653A>G
n.600+9957A>G
 gnomAD v4
3g.193658963T>GCA355791959OPA1c.2408T>G (p.Met803Arg)
c.2243T>G (p.Met748Arg)
c.2354T>G (p.Met785Arg)
c.2297T>G (p.Met766Arg)
c.2182T>G
c.*468T>G (n.*468T>G)
c.1925T>G (p.Met642Arg)
c.*2324T>G (n.*2324T>G)
c.1830T>G
c.*727T>G (n.*727T>G)
c.2237T>G
c.2258T>G (p.Met753Arg)
c.*1721T>G (n.*1721T>G)
c.*844T>G (n.*844T>G)
c.1231T>G
c.2135T>G (p.Met712Arg)
c.2246T>G (p.Met749Arg)
c.2300T>G (p.Met767Arg)
n.502T>G
c.2189T>G (p.Met730Arg)
n.582+9957A>C
c.1874T>G (p.Met625Arg)
c.1871T>G (p.Met624Arg)
n.2662T>G
n.2497T>G
n.476-11653A>C
n.600+9957A>C
3g.193658964G>ACA355791964OPA1c.2409G>A (p.Met803Ile)
c.2244G>A (p.Met748Ile)
c.2355G>A (p.Met785Ile)
c.2298G>A (p.Met766Ile)
c.2183G>A
c.*469G>A (n.*469G>A)
c.1926G>A (p.Met642Ile)
c.*2325G>A (n.*2325G>A)
c.1831G>A
c.*728G>A (n.*728G>A)
c.2238G>A
c.2259G>A (p.Met753Ile)
c.*1722G>A (n.*1722G>A)
c.*845G>A (n.*845G>A)
c.1232G>A
c.2136G>A (p.Met712Ile)
c.2247G>A (p.Met749Ile)
c.2301G>A (p.Met767Ile)
n.503G>A
c.2190G>A (p.Met730Ile)
n.582+9956C>T
c.1875G>A (p.Met625Ile)
c.1872G>A (p.Met624Ile)
n.2663G>A
n.2498G>A
n.476-11654C>T
n.600+9956C>T
3g.193658964G>CCA355791966OPA1c.2409G>C (p.Met803Ile)
c.2244G>C (p.Met748Ile)
c.2355G>C (p.Met785Ile)
c.2298G>C (p.Met766Ile)
c.2183G>C
c.*469G>C (n.*469G>C)
c.1926G>C (p.Met642Ile)
c.*2325G>C (n.*2325G>C)
c.1831G>C
c.*728G>C (n.*728G>C)
c.2238G>C
c.2259G>C (p.Met753Ile)
c.*1722G>C (n.*1722G>C)
c.*845G>C (n.*845G>C)
c.1232G>C
c.2136G>C (p.Met712Ile)
c.2247G>C (p.Met749Ile)
c.2301G>C (p.Met767Ile)
n.503G>C
c.2190G>C (p.Met730Ile)
n.582+9956C>G
c.1875G>C (p.Met625Ile)
c.1872G>C (p.Met624Ile)
n.2663G>C
n.2498G>C
n.476-11654C>G
n.600+9956C>G
3g.193658964G>TCA355791968OPA1c.2409G>T (p.Met803Ile)
c.2244G>T (p.Met748Ile)
c.2355G>T (p.Met785Ile)
c.2298G>T (p.Met766Ile)
c.2183G>T
c.*469G>T (n.*469G>T)
c.1926G>T (p.Met642Ile)
c.*2325G>T (n.*2325G>T)
c.1831G>T
c.*728G>T (n.*728G>T)
c.2238G>T
c.2259G>T (p.Met753Ile)
c.*1722G>T (n.*1722G>T)
c.*845G>T (n.*845G>T)
c.1232G>T
c.2136G>T (p.Met712Ile)
c.2247G>T (p.Met749Ile)
c.2301G>T (p.Met767Ile)
n.503G>T
c.2190G>T (p.Met730Ile)
n.582+9956C>A
c.1875G>T (p.Met625Ile)
c.1872G>T (p.Met624Ile)
n.2663G>T
n.2498G>T
n.476-11654C>A
n.600+9956C>A
3g.193658965G>ACA355791972OPA1c.2410G>A (p.Glu804Lys)
c.2245G>A (p.Glu749Lys)
c.2356G>A (p.Glu786Lys)
c.2299G>A (p.Glu767Lys)
c.2184G>A
c.*470G>A (n.*470G>A)
c.1927G>A (p.Glu643Lys)
c.*2326G>A (n.*2326G>A)
c.1832G>A
c.*729G>A (n.*729G>A)
c.2239G>A
c.2260G>A (p.Glu754Lys)
c.*1723G>A (n.*1723G>A)
c.*846G>A (n.*846G>A)
c.1233G>A
c.2137G>A (p.Glu713Lys)
c.2248G>A (p.Glu750Lys)
c.2302G>A (p.Glu768Lys)
n.504G>A
c.2191G>A (p.Glu731Lys)
n.582+9955C>T
c.1876G>A (p.Glu626Lys)
c.1873G>A (p.Glu625Lys)
n.2664G>A
n.2499G>A
n.476-11655C>T
n.600+9955C>T
3g.193658965G>CCA355791974OPA1c.2410G>C (p.Glu804Gln)
c.2245G>C (p.Glu749Gln)
c.2356G>C (p.Glu786Gln)
c.2299G>C (p.Glu767Gln)
c.2184G>C
c.*470G>C (n.*470G>C)
c.1927G>C (p.Glu643Gln)
c.*2326G>C (n.*2326G>C)
c.1832G>C
c.*729G>C (n.*729G>C)
c.2239G>C
c.2260G>C (p.Glu754Gln)
c.*1723G>C (n.*1723G>C)
c.*846G>C (n.*846G>C)
c.1233G>C
c.2137G>C (p.Glu713Gln)
c.2248G>C (p.Glu750Gln)
c.2302G>C (p.Glu768Gln)
n.504G>C
c.2191G>C (p.Glu731Gln)
n.582+9955C>G
c.1876G>C (p.Glu626Gln)
c.1873G>C (p.Glu625Gln)
n.2664G>C
n.2499G>C
n.476-11655C>G
n.600+9955C>G
 ClinVar dbSNP gnomAD v4
3g.193658965G=CA1430265101OPA1c.2410G= (p.Glu804=)
c.2245G= (p.Glu749=)
c.2356G= (p.Glu786=)
c.2299G= (p.Glu767=)
c.2184G=
c.*470G= (n.*470G=)
c.1927G= (p.Glu643=)
c.*2326G= (n.*2326G=)
c.1832G=
c.*729G= (n.*729G=)
c.2239G=
c.2260G= (p.Glu754=)
c.*1723G= (n.*1723G=)
c.*846G= (n.*846G=)
c.1233G=
c.2137G= (p.Glu713=)
c.2248G= (p.Glu750=)
c.2302G= (p.Glu768=)
n.504G=
c.2191G= (p.Glu731=)
n.582+9955C=
c.1876G= (p.Glu626=)
c.1873G= (p.Glu625=)
n.2664G=
n.2499G=
n.476-11655C=
n.600+9955C=
3g.193658965G>TCA355791975OPA1c.2410G>T (p.Glu804Ter)
c.2245G>T (p.Glu749Ter)
c.2356G>T (p.Glu786Ter)
c.2299G>T (p.Glu767Ter)
c.2184G>T
c.*470G>T (n.*470G>T)
c.1927G>T (p.Glu643Ter)
c.*2326G>T (n.*2326G>T)
c.1832G>T
c.*729G>T (n.*729G>T)
c.2239G>T
c.2260G>T (p.Glu754Ter)
c.*1723G>T (n.*1723G>T)
c.*846G>T (n.*846G>T)
c.1233G>T
c.2137G>T (p.Glu713Ter)
c.2248G>T (p.Glu750Ter)
c.2302G>T (p.Glu768Ter)
n.504G>T
c.2191G>T (p.Glu731Ter)
n.582+9955C>A
c.1876G>T (p.Glu626Ter)
c.1873G>T (p.Glu625Ter)
n.2664G>T
n.2499G>T
n.476-11655C>A
n.600+9955C>A
3g.193658966A>CCA355791976OPA1c.2411A>C (p.Glu804Ala)
c.2246A>C (p.Glu749Ala)
c.2357A>C (p.Glu786Ala)
c.2300A>C (p.Glu767Ala)
c.2185A>C
c.*471A>C (n.*471A>C)
c.1928A>C (p.Glu643Ala)
c.*2327A>C (n.*2327A>C)
c.1833A>C
c.*730A>C (n.*730A>C)
c.2240A>C
c.2261A>C (p.Glu754Ala)
c.*1724A>C (n.*1724A>C)
c.*847A>C (n.*847A>C)
c.1234A>C
c.2138A>C (p.Glu713Ala)
c.2249A>C (p.Glu750Ala)
c.2303A>C (p.Glu768Ala)
n.505A>C
c.2192A>C (p.Glu731Ala)
n.582+9954T>G
c.1877A>C (p.Glu626Ala)
c.1874A>C (p.Glu625Ala)
n.2665A>C
n.2500A>C
n.476-11656T>G
n.600+9954T>G
3g.193658966A>GCA355791978OPA1c.2411A>G (p.Glu804Gly)
c.2246A>G (p.Glu749Gly)
c.2357A>G (p.Glu786Gly)
c.2300A>G (p.Glu767Gly)
c.2185A>G
c.*471A>G (n.*471A>G)
c.1928A>G (p.Glu643Gly)
c.*2327A>G (n.*2327A>G)
c.1833A>G
c.*730A>G (n.*730A>G)
c.2240A>G
c.2261A>G (p.Glu754Gly)
c.*1724A>G (n.*1724A>G)
c.*847A>G (n.*847A>G)
c.1234A>G
c.2138A>G (p.Glu713Gly)
c.2249A>G (p.Glu750Gly)
c.2303A>G (p.Glu768Gly)
n.505A>G
c.2192A>G (p.Glu731Gly)
n.582+9954T>C
c.1877A>G (p.Glu626Gly)
c.1874A>G (p.Glu625Gly)
n.2665A>G
n.2500A>G
n.476-11656T>C
n.600+9954T>C
3g.193658966A>TCA355791980OPA1c.2411A>T (p.Glu804Val)
c.2246A>T (p.Glu749Val)
c.2357A>T (p.Glu786Val)
c.2300A>T (p.Glu767Val)
c.2185A>T
c.*471A>T (n.*471A>T)
c.1928A>T (p.Glu643Val)
c.*2327A>T (n.*2327A>T)
c.1833A>T
c.*730A>T (n.*730A>T)
c.2240A>T
c.2261A>T (p.Glu754Val)
c.*1724A>T (n.*1724A>T)
c.*847A>T (n.*847A>T)
c.1234A>T
c.2138A>T (p.Glu713Val)
c.2249A>T (p.Glu750Val)
c.2303A>T (p.Glu768Val)
n.505A>T
c.2192A>T (p.Glu731Val)
n.582+9954T>A
c.1877A>T (p.Glu626Val)
c.1874A>T (p.Glu625Val)
n.2665A>T
n.2500A>T
n.476-11656T>A
n.600+9954T>A
3g.193658967A>CCA355791982OPA1c.2412A>C (p.Glu804Asp)
c.2247A>C (p.Glu749Asp)
c.2358A>C (p.Glu786Asp)
c.2301A>C (p.Glu767Asp)
c.2186A>C
c.*472A>C (n.*472A>C)
c.1929A>C (p.Glu643Asp)
c.*2328A>C (n.*2328A>C)
c.1834A>C
c.*731A>C (n.*731A>C)
c.2241A>C
c.2262A>C (p.Glu754Asp)
c.*1725A>C (n.*1725A>C)
c.*848A>C (n.*848A>C)
c.1235A>C
c.2139A>C (p.Glu713Asp)
c.2250A>C (p.Glu750Asp)
c.2304A>C (p.Glu768Asp)
n.506A>C
c.2193A>C (p.Glu731Asp)
n.582+9953T>G
c.1878A>C (p.Glu626Asp)
c.1875A>C (p.Glu625Asp)
n.2666A>C
n.2501A>C
n.476-11657T>G
n.600+9953T>G
3g.193658967A>GCA437441339OPA1c.2412A>G (p.Glu804=)
c.2247A>G (p.Glu749=)
c.2358A>G (p.Glu786=)
c.2301A>G (p.Glu767=)
c.2186A>G
c.*472A>G (n.*472A>G)
c.1929A>G (p.Glu643=)
c.*2328A>G (n.*2328A>G)
c.1834A>G
c.*731A>G (n.*731A>G)
c.2241A>G
c.2262A>G (p.Glu754=)
c.*1725A>G (n.*1725A>G)
c.*848A>G (n.*848A>G)
c.1235A>G
c.2139A>G (p.Glu713=)
c.2250A>G (p.Glu750=)
c.2304A>G (p.Glu768=)
n.506A>G
c.2193A>G (p.Glu731=)
n.582+9953T>C
c.1878A>G (p.Glu626=)
c.1875A>G (p.Glu625=)
n.2666A>G
n.2501A>G
n.476-11657T>C
n.600+9953T>C
 gnomAD v4
3g.193658967A>TCA355791985OPA1c.2412A>T (p.Glu804Asp)
c.2247A>T (p.Glu749Asp)
c.2358A>T (p.Glu786Asp)
c.2301A>T (p.Glu767Asp)
c.2186A>T
c.*472A>T (n.*472A>T)
c.1929A>T (p.Glu643Asp)
c.*2328A>T (n.*2328A>T)
c.1834A>T
c.*731A>T (n.*731A>T)
c.2241A>T
c.2262A>T (p.Glu754Asp)
c.*1725A>T (n.*1725A>T)
c.*848A>T (n.*848A>T)
c.1235A>T
c.2139A>T (p.Glu713Asp)
c.2250A>T (p.Glu750Asp)
c.2304A>T (p.Glu768Asp)
n.506A>T
c.2193A>T (p.Glu731Asp)
n.582+9953T>A
c.1878A>T (p.Glu626Asp)
c.1875A>T (p.Glu625Asp)
n.2666A>T
n.2501A>T
n.476-11657T>A
n.600+9953T>A
3g.193658968G>ACA355791994OPA1c.2413G>A (p.Glu805Lys)
c.2248G>A (p.Glu750Lys)
c.2359G>A (p.Glu787Lys)
c.2302G>A (p.Glu768Lys)
c.2187G>A
c.*473G>A (n.*473G>A)
c.1930G>A (p.Glu644Lys)
c.*2329G>A (n.*2329G>A)
c.1835G>A
c.*732G>A (n.*732G>A)
c.2242G>A
c.2263G>A (p.Glu755Lys)
c.*1726G>A (n.*1726G>A)
c.*849G>A (n.*849G>A)
c.1236G>A
c.2140G>A (p.Glu714Lys)
c.2251G>A (p.Glu751Lys)
c.2305G>A (p.Glu769Lys)
n.507G>A
c.2194G>A (p.Glu732Lys)
n.582+9952C>T
c.1879G>A (p.Glu627Lys)
c.1876G>A (p.Glu626Lys)
n.2667G>A
n.2502G>A
n.476-11658C>T
n.600+9952C>T
3g.193658968G>CCA355791989OPA1c.2413G>C (p.Glu805Gln)
c.2248G>C (p.Glu750Gln)
c.2359G>C (p.Glu787Gln)
c.2302G>C (p.Glu768Gln)
c.2187G>C
c.*473G>C (n.*473G>C)
c.1930G>C (p.Glu644Gln)
c.*2329G>C (n.*2329G>C)
c.1835G>C
c.*732G>C (n.*732G>C)
c.2242G>C
c.2263G>C (p.Glu755Gln)
c.*1726G>C (n.*1726G>C)
c.*849G>C (n.*849G>C)
c.1236G>C
c.2140G>C (p.Glu714Gln)
c.2251G>C (p.Glu751Gln)
c.2305G>C (p.Glu769Gln)
n.507G>C
c.2194G>C (p.Glu732Gln)
n.582+9952C>G
c.1879G>C (p.Glu627Gln)
c.1876G>C (p.Glu626Gln)
n.2667G>C
n.2502G>C
n.476-11658C>G
n.600+9952C>G
 gnomAD v4
3g.193658968G>TCA355791987OPA1c.2413G>T (p.Glu805Ter)
c.2248G>T (p.Glu750Ter)
c.2359G>T (p.Glu787Ter)
c.2302G>T (p.Glu768Ter)
c.2187G>T
c.*473G>T (n.*473G>T)
c.1930G>T (p.Glu644Ter)
c.*2329G>T (n.*2329G>T)
c.1835G>T
c.*732G>T (n.*732G>T)
c.2242G>T
c.2263G>T (p.Glu755Ter)
c.*1726G>T (n.*1726G>T)
c.*849G>T (n.*849G>T)
c.1236G>T
c.2140G>T (p.Glu714Ter)
c.2251G>T (p.Glu751Ter)
c.2305G>T (p.Glu769Ter)
n.507G>T
c.2194G>T (p.Glu732Ter)
n.582+9952C>A
c.1879G>T (p.Glu627Ter)
c.1876G>T (p.Glu626Ter)
n.2667G>T
n.2502G>T
n.476-11658C>A
n.600+9952C>A
3g.193658969A>CCA355791996OPA1c.2414A>C (p.Glu805Ala)
c.2249A>C (p.Glu750Ala)
c.2360A>C (p.Glu787Ala)
c.2303A>C (p.Glu768Ala)
c.2188A>C
c.*474A>C (n.*474A>C)
c.1931A>C (p.Glu644Ala)
c.*2330A>C (n.*2330A>C)
c.1836A>C
c.*733A>C (n.*733A>C)
c.2243A>C
c.2264A>C (p.Glu755Ala)
c.*1727A>C (n.*1727A>C)
c.*850A>C (n.*850A>C)
c.1237A>C
c.2141A>C (p.Glu714Ala)
c.2252A>C (p.Glu751Ala)
c.2306A>C (p.Glu769Ala)
n.508A>C
c.2195A>C (p.Glu732Ala)
n.582+9951T>G
c.1880A>C (p.Glu627Ala)
c.1877A>C (p.Glu626Ala)
n.2668A>C
n.2503A>C
n.476-11659T>G
n.600+9951T>G
3g.193658969A>GCA355792000OPA1c.2414A>G (p.Glu805Gly)
c.2249A>G (p.Glu750Gly)
c.2360A>G (p.Glu787Gly)
c.2303A>G (p.Glu768Gly)
c.2188A>G
c.*474A>G (n.*474A>G)
c.1931A>G (p.Glu644Gly)
c.*2330A>G (n.*2330A>G)
c.1836A>G
c.*733A>G (n.*733A>G)
c.2243A>G
c.2264A>G (p.Glu755Gly)
c.*1727A>G (n.*1727A>G)
c.*850A>G (n.*850A>G)
c.1237A>G
c.2141A>G (p.Glu714Gly)
c.2252A>G (p.Glu751Gly)
c.2306A>G (p.Glu769Gly)
n.508A>G
c.2195A>G (p.Glu732Gly)
n.582+9951T>C
c.1880A>G (p.Glu627Gly)
c.1877A>G (p.Glu626Gly)
n.2668A>G
n.2503A>G
n.476-11659T>C
n.600+9951T>C
3g.193658969A>TCA355791998OPA1c.2414A>T (p.Glu805Val)
c.2249A>T (p.Glu750Val)
c.2360A>T (p.Glu787Val)
c.2303A>T (p.Glu768Val)
c.2188A>T
c.*474A>T (n.*474A>T)
c.1931A>T (p.Glu644Val)
c.*2330A>T (n.*2330A>T)
c.1836A>T
c.*733A>T (n.*733A>T)
c.2243A>T
c.2264A>T (p.Glu755Val)
c.*1727A>T (n.*1727A>T)
c.*850A>T (n.*850A>T)
c.1237A>T
c.2141A>T (p.Glu714Val)
c.2252A>T (p.Glu751Val)
c.2306A>T (p.Glu769Val)
n.508A>T
c.2195A>T (p.Glu732Val)
n.582+9951T>A
c.1880A>T (p.Glu627Val)
c.1877A>T (p.Glu626Val)
n.2668A>T
n.2503A>T
n.476-11659T>A
n.600+9951T>A
3g.193658970G>ACA437441345OPA1c.2415G>A (p.Glu805=)
c.2250G>A (p.Glu750=)
c.2361G>A (p.Glu787=)
c.2304G>A (p.Glu768=)
c.2189G>A
c.*475G>A (n.*475G>A)
c.1932G>A (p.Glu644=)
c.*2331G>A (n.*2331G>A)
c.1837G>A
c.*734G>A (n.*734G>A)
c.2244G>A
c.2265G>A (p.Glu755=)
c.*1728G>A (n.*1728G>A)
c.*851G>A (n.*851G>A)
c.1238G>A
c.2142G>A (p.Glu714=)
c.2253G>A (p.Glu751=)
c.2307G>A (p.Glu769=)
n.509G>A
c.2196G>A (p.Glu732=)
n.582+9950C>T
c.1881G>A (p.Glu627=)
c.1878G>A (p.Glu626=)
n.2669G>A
n.2504G>A
n.476-11660C>T
n.600+9950C>T
3g.193658970G>CCA355792001OPA1c.2415G>C (p.Glu805Asp)
c.2250G>C (p.Glu750Asp)
c.2361G>C (p.Glu787Asp)
c.2304G>C (p.Glu768Asp)
c.2189G>C
c.*475G>C (n.*475G>C)
c.1932G>C (p.Glu644Asp)
c.*2331G>C (n.*2331G>C)
c.1837G>C
c.*734G>C (n.*734G>C)
c.2244G>C
c.2265G>C (p.Glu755Asp)
c.*1728G>C (n.*1728G>C)
c.*851G>C (n.*851G>C)
c.1238G>C
c.2142G>C (p.Glu714Asp)
c.2253G>C (p.Glu751Asp)
c.2307G>C (p.Glu769Asp)
n.509G>C
c.2196G>C (p.Glu732Asp)
n.582+9950C>G
c.1881G>C (p.Glu627Asp)
c.1878G>C (p.Glu626Asp)
n.2669G>C
n.2504G>C
n.476-11660C>G
n.600+9950C>G
3g.193658970G=CA1430265104OPA1c.2415G= (p.Glu805=)
c.2250G= (p.Glu750=)
c.2361G= (p.Glu787=)
c.2304G= (p.Glu768=)
c.2189G=
c.*475G= (n.*475G=)
c.1932G= (p.Glu644=)
c.*2331G= (n.*2331G=)
c.1837G=
c.*734G= (n.*734G=)
c.2244G=
c.2265G= (p.Glu755=)
c.*1728G= (n.*1728G=)
c.*851G= (n.*851G=)
c.1238G=
c.2142G= (p.Glu714=)
c.2253G= (p.Glu751=)
c.2307G= (p.Glu769=)
n.509G=
c.2196G= (p.Glu732=)
n.582+9950C=
c.1881G= (p.Glu627=)
c.1878G= (p.Glu626=)
n.2669G=
n.2504G=
n.476-11660C=
n.600+9950C=
3g.193658970G>TCA355792002OPA1c.2415G>T (p.Glu805Asp)
c.2250G>T (p.Glu750Asp)
c.2361G>T (p.Glu787Asp)
c.2304G>T (p.Glu768Asp)
c.2189G>T
c.*475G>T (n.*475G>T)
c.1932G>T (p.Glu644Asp)
c.*2331G>T (n.*2331G>T)
c.1837G>T
c.*734G>T (n.*734G>T)
c.2244G>T
c.2265G>T (p.Glu755Asp)
c.*1728G>T (n.*1728G>T)
c.*851G>T (n.*851G>T)
c.1238G>T
c.2142G>T (p.Glu714Asp)
c.2253G>T (p.Glu751Asp)
c.2307G>T (p.Glu769Asp)
n.509G>T
c.2196G>T (p.Glu732Asp)
n.582+9950C>A
c.1881G>T (p.Glu627Asp)
c.1878G>T (p.Glu626Asp)
n.2669G>T
n.2504G>T
n.476-11660C>A
n.600+9950C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.193658971G>ACA2759642OPA1c.2416G>A (p.Ala806Thr)
c.2251G>A (p.Ala751Thr)
c.2362G>A (p.Ala788Thr)
c.2305G>A (p.Ala769Thr)
c.2190G>A
c.*476G>A (n.*476G>A)
c.1933G>A (p.Ala645Thr)
c.*2332G>A (n.*2332G>A)
c.1838G>A
c.*735G>A (n.*735G>A)
c.2245G>A
c.2266G>A (p.Ala756Thr)
c.*1729G>A (n.*1729G>A)
c.*852G>A (n.*852G>A)
c.1239G>A
c.2143G>A (p.Ala715Thr)
c.2254G>A (p.Ala752Thr)
c.2308G>A (p.Ala770Thr)
n.510G>A
c.2197G>A (p.Ala733Thr)
n.582+9949C>T
c.1882G>A (p.Ala628Thr)
c.1879G>A (p.Ala627Thr)
n.2670G>A
n.2505G>A
n.476-11661C>T
n.600+9949C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.193658971G>CCA355792006OPA1c.2416G>C (p.Ala806Pro)
c.2251G>C (p.Ala751Pro)
c.2362G>C (p.Ala788Pro)
c.2305G>C (p.Ala769Pro)
c.2190G>C
c.*476G>C (n.*476G>C)
c.1933G>C (p.Ala645Pro)
c.*2332G>C (n.*2332G>C)
c.1838G>C
c.*735G>C (n.*735G>C)
c.2245G>C
c.2266G>C (p.Ala756Pro)
c.*1729G>C (n.*1729G>C)
c.*852G>C (n.*852G>C)
c.1239G>C
c.2143G>C (p.Ala715Pro)
c.2254G>C (p.Ala752Pro)
c.2308G>C (p.Ala770Pro)
n.510G>C
c.2197G>C (p.Ala733Pro)
n.582+9949C>G
c.1882G>C (p.Ala628Pro)
c.1879G>C (p.Ala627Pro)
n.2670G>C
n.2505G>C
n.476-11661C>G
n.600+9949C>G
3g.193658971G=CA1430265110OPA1c.2416G= (p.Ala806=)
c.2251G= (p.Ala751=)
c.2362G= (p.Ala788=)
c.2305G= (p.Ala769=)
c.2190G=
c.*476G= (n.*476G=)
c.1933G= (p.Ala645=)
c.*2332G= (n.*2332G=)
c.1838G=
c.*735G= (n.*735G=)
c.2245G=
c.2266G= (p.Ala756=)
c.*1729G= (n.*1729G=)
c.*852G= (n.*852G=)
c.1239G=
c.2143G= (p.Ala715=)
c.2254G= (p.Ala752=)
c.2308G= (p.Ala770=)
n.510G=
c.2197G= (p.Ala733=)
n.582+9949C=
c.1882G= (p.Ala628=)
c.1879G= (p.Ala627=)
n.2670G=
n.2505G=
n.476-11661C=
n.600+9949C=
3g.193658971G>TCA355792007OPA1c.2416G>T (p.Ala806Ser)
c.2251G>T (p.Ala751Ser)
c.2362G>T (p.Ala788Ser)
c.2305G>T (p.Ala769Ser)
c.2190G>T
c.*476G>T (n.*476G>T)
c.1933G>T (p.Ala645Ser)
c.*2332G>T (n.*2332G>T)
c.1838G>T
c.*735G>T (n.*735G>T)
c.2245G>T
c.2266G>T (p.Ala756Ser)
c.*1729G>T (n.*1729G>T)
c.*852G>T (n.*852G>T)
c.1239G>T
c.2143G>T (p.Ala715Ser)
c.2254G>T (p.Ala752Ser)
c.2308G>T (p.Ala770Ser)
n.510G>T
c.2197G>T (p.Ala733Ser)
n.582+9949C>A
c.1882G>T (p.Ala628Ser)
c.1879G>T (p.Ala627Ser)
n.2670G>T
n.2505G>T
n.476-11661C>A
n.600+9949C>A
3g.193658972C>ACA355792015OPA1c.2417C>A (p.Ala806Asp)
c.2252C>A (p.Ala751Asp)
c.2363C>A (p.Ala788Asp)
c.2306C>A (p.Ala769Asp)
c.2191C>A
c.*477C>A (n.*477C>A)
c.1934C>A (p.Ala645Asp)
c.*2333C>A (n.*2333C>A)
c.1839C>A
c.*736C>A (n.*736C>A)
c.2246C>A
c.2267C>A (p.Ala756Asp)
c.*1730C>A (n.*1730C>A)
c.*853C>A (n.*853C>A)
c.1240C>A
c.2144C>A (p.Ala715Asp)
c.2255C>A (p.Ala752Asp)
c.2309C>A (p.Ala770Asp)
n.511C>A
c.2198C>A (p.Ala733Asp)
n.582+9948G>T
c.1883C>A (p.Ala628Asp)
c.1880C>A (p.Ala627Asp)
n.2671C>A
n.2506C>A
n.476-11662G>T
n.600+9948G>T
3g.193658972C>GCA355792014OPA1c.2417C>G (p.Ala806Gly)
c.2252C>G (p.Ala751Gly)
c.2363C>G (p.Ala788Gly)
c.2306C>G (p.Ala769Gly)
c.2191C>G
c.*477C>G (n.*477C>G)
c.1934C>G (p.Ala645Gly)
c.*2333C>G (n.*2333C>G)
c.1839C>G
c.*736C>G (n.*736C>G)
c.2246C>G
c.2267C>G (p.Ala756Gly)
c.*1730C>G (n.*1730C>G)
c.*853C>G (n.*853C>G)
c.1240C>G
c.2144C>G (p.Ala715Gly)
c.2255C>G (p.Ala752Gly)
c.2309C>G (p.Ala770Gly)
n.511C>G
c.2198C>G (p.Ala733Gly)
n.582+9948G>C
c.1883C>G (p.Ala628Gly)
c.1880C>G (p.Ala627Gly)
n.2671C>G
n.2506C>G
n.476-11662G>C
n.600+9948G>C
3g.193658972C>TCA355792010OPA1c.2417C>T (p.Ala806Val)
c.2252C>T (p.Ala751Val)
c.2363C>T (p.Ala788Val)
c.2306C>T (p.Ala769Val)
c.2191C>T
c.*477C>T (n.*477C>T)
c.1934C>T (p.Ala645Val)
c.*2333C>T (n.*2333C>T)
c.1839C>T
c.*736C>T (n.*736C>T)
c.2246C>T
c.2267C>T (p.Ala756Val)
c.*1730C>T (n.*1730C>T)
c.*853C>T (n.*853C>T)
c.1240C>T
c.2144C>T (p.Ala715Val)
c.2255C>T (p.Ala752Val)
c.2309C>T (p.Ala770Val)
n.511C>T
c.2198C>T (p.Ala733Val)
n.582+9948G>A
c.1883C>T (p.Ala628Val)
c.1880C>T (p.Ala627Val)
n.2671C>T
n.2506C>T
n.476-11662G>A
n.600+9948G>A
3g.193658973T>ACA437441354OPA1c.2418T>A (p.Ala806=)
c.2253T>A (p.Ala751=)
c.2364T>A (p.Ala788=)
c.2307T>A (p.Ala769=)
c.2192T>A
c.*478T>A (n.*478T>A)
c.1935T>A (p.Ala645=)
c.*2334T>A (n.*2334T>A)
c.1840T>A
c.*737T>A (n.*737T>A)
c.2247T>A
c.2268T>A (p.Ala756=)
c.*1731T>A (n.*1731T>A)
c.*854T>A (n.*854T>A)
c.1241T>A
c.2145T>A (p.Ala715=)
c.2256T>A (p.Ala752=)
c.2310T>A (p.Ala770=)
n.512T>A
c.2199T>A (p.Ala733=)
n.582+9947A>T
c.1884T>A (p.Ala628=)
c.1881T>A (p.Ala627=)
n.2672T>A
n.2507T>A
n.476-11663A>T
n.600+9947A>T
3g.193658973T>CCA437441356OPA1c.2418T>C (p.Ala806=)
c.2253T>C (p.Ala751=)
c.2364T>C (p.Ala788=)
c.2307T>C (p.Ala769=)
c.2192T>C
c.*478T>C (n.*478T>C)
c.1935T>C (p.Ala645=)
c.*2334T>C (n.*2334T>C)
c.1840T>C
c.*737T>C (n.*737T>C)
c.2247T>C
c.2268T>C (p.Ala756=)
c.*1731T>C (n.*1731T>C)
c.*854T>C (n.*854T>C)
c.1241T>C
c.2145T>C (p.Ala715=)
c.2256T>C (p.Ala752=)
c.2310T>C (p.Ala770=)
n.512T>C
c.2199T>C (p.Ala733=)
n.582+9947A>G
c.1884T>C (p.Ala628=)
c.1881T>C (p.Ala627=)
n.2672T>C
n.2507T>C
n.476-11663A>G
n.600+9947A>G
3g.193658973T>GCA437441358OPA1c.2418T>G (p.Ala806=)
c.2253T>G (p.Ala751=)
c.2364T>G (p.Ala788=)
c.2307T>G (p.Ala769=)
c.2192T>G
c.*478T>G (n.*478T>G)
c.1935T>G (p.Ala645=)
c.*2334T>G (n.*2334T>G)
c.1840T>G
c.*737T>G (n.*737T>G)
c.2247T>G
c.2268T>G (p.Ala756=)
c.*1731T>G (n.*1731T>G)
c.*854T>G (n.*854T>G)
c.1241T>G
c.2145T>G (p.Ala715=)
c.2256T>G (p.Ala752=)
c.2310T>G (p.Ala770=)
n.512T>G
c.2199T>G (p.Ala733=)
n.582+9947A>C
c.1884T>G (p.Ala628=)
c.1881T>G (p.Ala627=)
n.2672T>G
n.2507T>G
n.476-11663A>C
n.600+9947A>C
3g.193658974C>ACA355792017OPA1c.2419C>A (p.Leu807Met)
c.2254C>A (p.Leu752Met)
c.2365C>A (p.Leu789Met)
c.2308C>A (p.Leu770Met)
c.2193C>A
c.*479C>A (n.*479C>A)
c.1936C>A (p.Leu646Met)
c.*2335C>A (n.*2335C>A)
c.1841C>A
c.*738C>A (n.*738C>A)
c.2248C>A
c.2269C>A (p.Leu757Met)
c.*1732C>A (n.*1732C>A)
c.*855C>A (n.*855C>A)
c.1242C>A
c.2146C>A (p.Leu716Met)
c.2257C>A (p.Leu753Met)
c.2311C>A (p.Leu771Met)
n.513C>A
c.2200C>A (p.Leu734Met)
n.582+9946G>T
c.1885C>A (p.Leu629Met)
c.1882C>A (p.Leu628Met)
n.2673C>A
n.2508C>A
n.476-11664G>T
n.600+9946G>T
3g.193658974C>GCA355792019OPA1c.2419C>G (p.Leu807Val)
c.2254C>G (p.Leu752Val)
c.2365C>G (p.Leu789Val)
c.2308C>G (p.Leu770Val)
c.2193C>G
c.*479C>G (n.*479C>G)
c.1936C>G (p.Leu646Val)
c.*2335C>G (n.*2335C>G)
c.1841C>G
c.*738C>G (n.*738C>G)
c.2248C>G
c.2269C>G (p.Leu757Val)
c.*1732C>G (n.*1732C>G)
c.*855C>G (n.*855C>G)
c.1242C>G
c.2146C>G (p.Leu716Val)
c.2257C>G (p.Leu753Val)
c.2311C>G (p.Leu771Val)
n.513C>G
c.2200C>G (p.Leu734Val)
n.582+9946G>C
c.1885C>G (p.Leu629Val)
c.1882C>G (p.Leu628Val)
n.2673C>G
n.2508C>G
n.476-11664G>C
n.600+9946G>C
3g.193658974C>TCA437441362OPA1c.2419C>T (p.Leu807=)
c.2254C>T (p.Leu752=)
c.2365C>T (p.Leu789=)
c.2308C>T (p.Leu770=)
c.2193C>T
c.*479C>T (n.*479C>T)
c.1936C>T (p.Leu646=)
c.*2335C>T (n.*2335C>T)
c.1841C>T
c.*738C>T (n.*738C>T)
c.2248C>T
c.2269C>T (p.Leu757=)
c.*1732C>T (n.*1732C>T)
c.*855C>T (n.*855C>T)
c.1242C>T
c.2146C>T (p.Leu716=)
c.2257C>T (p.Leu753=)
c.2311C>T (p.Leu771=)
n.513C>T
c.2200C>T (p.Leu734=)
n.582+9946G>A
c.1885C>T (p.Leu629=)
c.1882C>T (p.Leu628=)
n.2673C>T
n.2508C>T
n.476-11664G>A
n.600+9946G>A
3g.193658975T>ACA355792022OPA1c.2420T>A (p.Leu807Gln)
c.2255T>A (p.Leu752Gln)
c.2366T>A (p.Leu789Gln)
c.2309T>A (p.Leu770Gln)
c.2194T>A
c.*480T>A (n.*480T>A)
c.1937T>A (p.Leu646Gln)
c.*2336T>A (n.*2336T>A)
c.1842T>A
c.*739T>A (n.*739T>A)
c.2249T>A
c.2270T>A (p.Leu757Gln)
c.*1733T>A (n.*1733T>A)
c.*856T>A (n.*856T>A)
c.1243T>A
c.2147T>A (p.Leu716Gln)
c.2258T>A (p.Leu753Gln)
c.2312T>A (p.Leu771Gln)
n.514T>A
c.2201T>A (p.Leu734Gln)
n.582+9945A>T
c.1886T>A (p.Leu629Gln)
c.1883T>A (p.Leu628Gln)
n.2674T>A
n.2509T>A
n.476-11665A>T
n.600+9945A>T
3g.193658975T>CCA355792023OPA1c.2420T>C (p.Leu807Pro)
c.2255T>C (p.Leu752Pro)
c.2366T>C (p.Leu789Pro)
c.2309T>C (p.Leu770Pro)
c.2194T>C
c.*480T>C (n.*480T>C)
c.1937T>C (p.Leu646Pro)
c.*2336T>C (n.*2336T>C)
c.1842T>C
c.*739T>C (n.*739T>C)
c.2249T>C
c.2270T>C (p.Leu757Pro)
c.*1733T>C (n.*1733T>C)
c.*856T>C (n.*856T>C)
c.1243T>C
c.2147T>C (p.Leu716Pro)
c.2258T>C (p.Leu753Pro)
c.2312T>C (p.Leu771Pro)
n.514T>C
c.2201T>C (p.Leu734Pro)
n.582+9945A>G
c.1886T>C (p.Leu629Pro)
c.1883T>C (p.Leu628Pro)
n.2674T>C
n.2509T>C
n.476-11665A>G
n.600+9945A>G
 ClinVar dbSNP
3g.193658975T>GCA355792024OPA1c.2420T>G (p.Leu807Arg)
c.2255T>G (p.Leu752Arg)
c.2366T>G (p.Leu789Arg)
c.2309T>G (p.Leu770Arg)
c.2194T>G
c.*480T>G (n.*480T>G)
c.1937T>G (p.Leu646Arg)
c.*2336T>G (n.*2336T>G)
c.1842T>G
c.*739T>G (n.*739T>G)
c.2249T>G
c.2270T>G (p.Leu757Arg)
c.*1733T>G (n.*1733T>G)
c.*856T>G (n.*856T>G)
c.1243T>G
c.2147T>G (p.Leu716Arg)
c.2258T>G (p.Leu753Arg)
c.2312T>G (p.Leu771Arg)
n.514T>G
c.2201T>G (p.Leu734Arg)
n.582+9945A>C
c.1886T>G (p.Leu629Arg)
c.1883T>G (p.Leu628Arg)
n.2674T>G
n.2509T>G
n.476-11665A>C
n.600+9945A>C
3g.193658975T=CA1430265118OPA1c.2420T= (p.Leu807=)
c.2255T= (p.Leu752=)
c.2366T= (p.Leu789=)
c.2309T= (p.Leu770=)
c.2194T=
c.*480T= (n.*480T=)
c.1937T= (p.Leu646=)
c.*2336T= (n.*2336T=)
c.1842T=
c.*739T= (n.*739T=)
c.2249T=
c.2270T= (p.Leu757=)
c.*1733T= (n.*1733T=)
c.*856T= (n.*856T=)
c.1243T=
c.2147T= (p.Leu716=)
c.2258T= (p.Leu753=)
c.2312T= (p.Leu771=)
n.514T=
c.2201T= (p.Leu734=)
n.582+9945A=
c.1886T= (p.Leu629=)
c.1883T= (p.Leu628=)
n.2674T=
n.2509T=
n.476-11665A=
n.600+9945A=
3g.193658976G>ACA437441366OPA1c.2421G>A (p.Leu807=)
c.2256G>A (p.Leu752=)
c.2367G>A (p.Leu789=)
c.2310G>A (p.Leu770=)
c.2195G>A
c.*481G>A (n.*481G>A)
c.1938G>A (p.Leu646=)
c.*2337G>A (n.*2337G>A)
c.1843G>A
c.*740G>A (n.*740G>A)
c.2250G>A
c.2271G>A (p.Leu757=)
c.*1734G>A (n.*1734G>A)
c.*857G>A (n.*857G>A)
c.1244G>A
c.2148G>A (p.Leu716=)
c.2259G>A (p.Leu753=)
c.2313G>A (p.Leu771=)
n.515G>A
c.2202G>A (p.Leu734=)
n.582+9944C>T
c.1887G>A (p.Leu629=)
c.1884G>A (p.Leu628=)
n.2675G>A
n.2510G>A
n.476-11666C>T
n.600+9944C>T
 gnomAD v4
3g.193658976G>CCA437441368OPA1c.2421G>C (p.Leu807=)
c.2256G>C (p.Leu752=)
c.2367G>C (p.Leu789=)
c.2310G>C (p.Leu770=)
c.2195G>C
c.*481G>C (n.*481G>C)
c.1938G>C (p.Leu646=)
c.*2337G>C (n.*2337G>C)
c.1843G>C
c.*740G>C (n.*740G>C)
c.2250G>C
c.2271G>C (p.Leu757=)
c.*1734G>C (n.*1734G>C)
c.*857G>C (n.*857G>C)
c.1244G>C
c.2148G>C (p.Leu716=)
c.2259G>C (p.Leu753=)
c.2313G>C (p.Leu771=)
n.515G>C
c.2202G>C (p.Leu734=)
n.582+9944C>G
c.1887G>C (p.Leu629=)
c.1884G>C (p.Leu628=)
n.2675G>C
n.2510G>C
n.476-11666C>G
n.600+9944C>G
3g.193658976G=CA1430265130OPA1c.2421G= (p.Leu807=)
c.2256G= (p.Leu752=)
c.2367G= (p.Leu789=)
c.2310G= (p.Leu770=)
c.2195G=
c.*481G= (n.*481G=)
c.1938G= (p.Leu646=)
c.*2337G= (n.*2337G=)
c.1843G=
c.*740G= (n.*740G=)
c.2250G=
c.2271G= (p.Leu757=)
c.*1734G= (n.*1734G=)
c.*857G= (n.*857G=)
c.1244G=
c.2148G= (p.Leu716=)
c.2259G= (p.Leu753=)
c.2313G= (p.Leu771=)
n.515G=
c.2202G= (p.Leu734=)
n.582+9944C=
c.1887G= (p.Leu629=)
c.1884G= (p.Leu628=)
n.2675G=
n.2510G=
n.476-11666C=
n.600+9944C=
3g.193658976G>TCA223209OPA1c.2421G>T (p.Leu807=)
c.2256G>T (p.Leu752=)
c.2367G>T (p.Leu789=)
c.2310G>T (p.Leu770=)
c.2195G>T
c.*481G>T (n.*481G>T)
c.1938G>T (p.Leu646=)
c.*2337G>T (n.*2337G>T)
c.1843G>T
c.*740G>T (n.*740G>T)
c.2250G>T
c.2271G>T (p.Leu757=)
c.*1734G>T (n.*1734G>T)
c.*857G>T (n.*857G>T)
c.1244G>T
c.2148G>T (p.Leu716=)
c.2259G>T (p.Leu753=)
c.2313G>T (p.Leu771=)
n.515G>T
c.2202G>T (p.Leu734=)
n.582+9944C>A
c.1887G>T (p.Leu629=)
c.1884G>T (p.Leu628=)
n.2675G>T
n.2510G>T
n.476-11666C>A
n.600+9944C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.193658977C>ACA355792025OPA1c.2422C>A (p.Gln808Lys)
c.2257C>A (p.Gln753Lys)
c.2368C>A (p.Gln790Lys)
c.2311C>A (p.Gln771Lys)
c.2196C>A
c.*482C>A (n.*482C>A)
c.1939C>A (p.Gln647Lys)
c.*2338C>A (n.*2338C>A)
c.1844C>A
c.*741C>A (n.*741C>A)
c.2251C>A
c.2272C>A (p.Gln758Lys)
c.*1735C>A (n.*1735C>A)
c.*858C>A (n.*858C>A)
c.1245C>A
c.2149C>A (p.Gln717Lys)
c.2260C>A (p.Gln754Lys)
c.2314C>A (p.Gln772Lys)
n.516C>A
c.2203C>A (p.Gln735Lys)
n.582+9943G>T
c.1888C>A (p.Gln630Lys)
c.1885C>A (p.Gln629Lys)
n.2676C>A
n.2511C>A
n.476-11667G>T
n.600+9943G>T
3g.193658977C=CA1430265133OPA1c.2422C= (p.Gln808=)
c.2257C= (p.Gln753=)
c.2368C= (p.Gln790=)
c.2311C= (p.Gln771=)
c.2196C=
c.*482C= (n.*482C=)
c.1939C= (p.Gln647=)
c.*2338C= (n.*2338C=)
c.1844C=
c.*741C= (n.*741C=)
c.2251C=
c.2272C= (p.Gln758=)
c.*1735C= (n.*1735C=)
c.*858C= (n.*858C=)
c.1245C=
c.2149C= (p.Gln717=)
c.2260C= (p.Gln754=)
c.2314C= (p.Gln772=)
n.516C=
c.2203C= (p.Gln735=)
n.582+9943G=
c.1888C= (p.Gln630=)
c.1885C= (p.Gln629=)
n.2676C=
n.2511C=
n.476-11667G=
n.600+9943G=
3g.193658977C>GCA355792026OPA1c.2422C>G (p.Gln808Glu)
c.2257C>G (p.Gln753Glu)
c.2368C>G (p.Gln790Glu)
c.2311C>G (p.Gln771Glu)
c.2196C>G
c.*482C>G (n.*482C>G)
c.1939C>G (p.Gln647Glu)
c.*2338C>G (n.*2338C>G)
c.1844C>G
c.*741C>G (n.*741C>G)
c.2251C>G
c.2272C>G (p.Gln758Glu)
c.*1735C>G (n.*1735C>G)
c.*858C>G (n.*858C>G)
c.1245C>G
c.2149C>G (p.Gln717Glu)
c.2260C>G (p.Gln754Glu)
c.2314C>G (p.Gln772Glu)
n.516C>G
c.2203C>G (p.Gln735Glu)
n.582+9943G>C
c.1888C>G (p.Gln630Glu)
c.1885C>G (p.Gln629Glu)
n.2676C>G
n.2511C>G
n.476-11667G>C
n.600+9943G>C
3g.193658977C>TCA223214OPA1c.2422C>T (p.Gln808Ter)
c.2257C>T (p.Gln753Ter)
c.2368C>T (p.Gln790Ter)
c.2311C>T (p.Gln771Ter)
c.2196C>T
c.*482C>T (n.*482C>T)
c.1939C>T (p.Gln647Ter)
c.*2338C>T (n.*2338C>T)
c.1844C>T
c.*741C>T (n.*741C>T)
c.2251C>T
c.2272C>T (p.Gln758Ter)
c.*1735C>T (n.*1735C>T)
c.*858C>T (n.*858C>T)
c.1245C>T
c.2149C>T (p.Gln717Ter)
c.2260C>T (p.Gln754Ter)
c.2314C>T (p.Gln772Ter)
n.516C>T
c.2203C>T (p.Gln735Ter)
n.582+9943G>A
c.1888C>T (p.Gln630Ter)
c.1885C>T (p.Gln629Ter)
n.2676C>T
n.2511C>T
n.476-11667G>A
n.600+9943G>A
 ClinVar dbSNP

Number of alleles fetched