Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.193618890_193618891dupCA2586973322OPA1,OPA1-AS1c.632_633dup (p.Arg212LeufsTer?)
c.578_579dup (p.Arg194LeufsTer?)
c.418_419dup
c.673_674dup
c.260_261dup (p.Arg88LeufsTer?)
c.*659_*660dup (n.*659_*660dup)
c.238_239dup
c.206_207dup (p.Arg70LeufsTer?)
c.547_548dup
c.470_471dup (p.Arg158LeufsTer?)
c.524_525dup (p.Arg176LeufsTer?)
c.331_332dup
n.481_482dup
n.64_65dup
n.211_212dup
c.98_99dup (p.Arg34LeufsTer?)
n.861_862dup
n.807_808dup
3g.193618890T>ACA2759087OPA1,OPA1-AS1c.632T>A (p.Phe211Tyr)
c.578T>A (p.Phe193Tyr)
c.418T>A
c.673T>A
c.260T>A (p.Phe87Tyr)
c.*659T>A (n.*659T>A)
c.238T>A
c.206T>A (p.Phe69Tyr)
c.547T>A
c.470T>A (p.Phe157Tyr)
c.524T>A (p.Phe175Tyr)
c.331T>A
n.481T>A
n.64T>A
n.211A>T
c.98T>A (p.Phe33Tyr)
n.861T>A
n.807T>A
dbSNP ExAC gnomAD v2 gnomAD v4
3g.193618890T>CCA355788209OPA1,OPA1-AS1c.632T>C (p.Phe211Ser)
c.578T>C (p.Phe193Ser)
c.418T>C
c.673T>C
c.260T>C (p.Phe87Ser)
c.*659T>C (n.*659T>C)
c.238T>C
c.206T>C (p.Phe69Ser)
c.547T>C
c.470T>C (p.Phe157Ser)
c.524T>C (p.Phe175Ser)
c.331T>C
n.481T>C
n.64T>C
n.211A>G
c.98T>C (p.Phe33Ser)
n.861T>C
n.807T>C
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.193618890T>GCA355788207OPA1,OPA1-AS1c.632T>G (p.Phe211Cys)
c.578T>G (p.Phe193Cys)
c.418T>G
c.673T>G
c.260T>G (p.Phe87Cys)
c.*659T>G (n.*659T>G)
c.238T>G
c.206T>G (p.Phe69Cys)
c.547T>G
c.470T>G (p.Phe157Cys)
c.524T>G (p.Phe175Cys)
c.331T>G
n.481T>G
n.64T>G
n.211A>C
c.98T>G (p.Phe33Cys)
n.861T>G
n.807T>G
3g.193618890T=CA1430262117OPA1,OPA1-AS1c.632T= (p.Phe211=)
c.578T= (p.Phe193=)
c.418T=
c.673T=
c.260T= (p.Phe87=)
c.*659T= (n.*659T=)
c.238T=
c.206T= (p.Phe69=)
c.547T=
c.470T= (p.Phe157=)
c.524T= (p.Phe175=)
c.331T=
n.481T=
n.64T=
n.211A=
c.98T= (p.Phe33=)
n.861T=
n.807T=
3g.193618891T>ACA355788211OPA1,OPA1-AS1c.633T>A (p.Phe211Leu)
c.579T>A (p.Phe193Leu)
c.419T>A
c.674T>A
c.261T>A (p.Phe87Leu)
c.*660T>A (n.*660T>A)
c.239T>A
c.207T>A (p.Phe69Leu)
c.548T>A
c.471T>A (p.Phe157Leu)
c.525T>A (p.Phe175Leu)
c.332T>A
n.482T>A
n.65T>A
n.210A>T
c.99T>A (p.Phe33Leu)
n.862T>A
n.808T>A
3g.193618891T>CCA437432407OPA1,OPA1-AS1c.633T>C (p.Phe211=)
c.579T>C (p.Phe193=)
c.419T>C
c.674T>C
c.261T>C (p.Phe87=)
c.*660T>C (n.*660T>C)
c.239T>C
c.207T>C (p.Phe69=)
c.548T>C
c.471T>C (p.Phe157=)
c.525T>C (p.Phe175=)
c.332T>C
n.482T>C
n.65T>C
n.210A>G
c.99T>C (p.Phe33=)
n.862T>C
n.808T>C
3g.193618891T>GCA355788212OPA1,OPA1-AS1c.633T>G (p.Phe211Leu)
c.579T>G (p.Phe193Leu)
c.419T>G
c.674T>G
c.261T>G (p.Phe87Leu)
c.*660T>G (n.*660T>G)
c.239T>G
c.207T>G (p.Phe69Leu)
c.548T>G
c.471T>G (p.Phe157Leu)
c.525T>G (p.Phe175Leu)
c.332T>G
n.482T>G
n.65T>G
n.210A>C
c.99T>G (p.Phe33Leu)
n.862T>G
n.808T>G
3g.193618892A=CA1430262118OPA1,OPA1-AS1c.634A= (p.Arg212=)
c.580A= (p.Arg194=)
c.420A=
c.675A=
c.262A= (p.Arg88=)
c.*661A= (n.*661A=)
c.240A=
c.208A= (p.Arg70=)
c.549A=
c.472A= (p.Arg158=)
c.526A= (p.Arg176=)
c.333A=
n.483A=
n.66A=
n.209T=
c.100A= (p.Arg34=)
n.863A=
n.809A=
3g.193618892A>CCA437432408OPA1,OPA1-AS1c.634A>C (p.Arg212=)
c.580A>C (p.Arg194=)
c.420A>C
c.675A>C
c.262A>C (p.Arg88=)
c.*661A>C (n.*661A>C)
c.240A>C
c.208A>C (p.Arg70=)
c.549A>C
c.472A>C (p.Arg158=)
c.526A>C (p.Arg176=)
c.333A>C
n.483A>C
n.66A>C
n.209T>G
c.100A>C (p.Arg34=)
n.863A>C
n.809A>C
3g.193618892A>GCA355788213OPA1,OPA1-AS1c.634A>G (p.Arg212Gly)
c.580A>G (p.Arg194Gly)
c.420A>G
c.675A>G
c.262A>G (p.Arg88Gly)
c.*661A>G (n.*661A>G)
c.240A>G
c.208A>G (p.Arg70Gly)
c.549A>G
c.472A>G (p.Arg158Gly)
c.526A>G (p.Arg176Gly)
c.333A>G
n.483A>G
n.66A>G
n.209T>C
c.100A>G (p.Arg34Gly)
n.863A>G
n.809A>G
ClinVar dbSNP gnomAD v4
3g.193618892A>TCA355788214OPA1,OPA1-AS1c.634A>T (p.Arg212Ter)
c.580A>T (p.Arg194Ter)
c.420A>T
c.675A>T
c.262A>T (p.Arg88Ter)
c.*661A>T (n.*661A>T)
c.240A>T
c.208A>T (p.Arg70Ter)
c.549A>T
c.472A>T (p.Arg158Ter)
c.526A>T (p.Arg176Ter)
c.333A>T
n.483A>T
n.66A>T
n.209T>A
c.100A>T (p.Arg34Ter)
n.863A>T
n.809A>T
3g.193618893G>ACA2759088OPA1,OPA1-AS1c.635G>A (p.Arg212Lys)
c.581G>A (p.Arg194Lys)
c.421G>A
c.676G>A
c.263G>A (p.Arg88Lys)
c.*662G>A (n.*662G>A)
c.241G>A
c.209G>A (p.Arg70Lys)
c.550G>A
c.473G>A (p.Arg158Lys)
c.527G>A (p.Arg176Lys)
c.334G>A
n.484G>A
n.67G>A
n.208C>T
c.101G>A (p.Arg34Lys)
n.864G>A
n.810G>A
dbSNP ExAC gnomAD v2 gnomAD v4
3g.193618893G>CCA355788215OPA1,OPA1-AS1c.635G>C (p.Arg212Thr)
c.581G>C (p.Arg194Thr)
c.421G>C
c.676G>C
c.263G>C (p.Arg88Thr)
c.*662G>C (n.*662G>C)
c.241G>C
c.209G>C (p.Arg70Thr)
c.550G>C
c.473G>C (p.Arg158Thr)
c.527G>C (p.Arg176Thr)
c.334G>C
n.484G>C
n.67G>C
n.208C>G
c.101G>C (p.Arg34Thr)
n.864G>C
n.810G>C
3g.193618893G=CA1430262119OPA1,OPA1-AS1c.635G= (p.Arg212=)
c.581G= (p.Arg194=)
c.421G=
c.676G=
c.263G= (p.Arg88=)
c.*662G= (n.*662G=)
c.241G=
c.209G= (p.Arg70=)
c.550G=
c.473G= (p.Arg158=)
c.527G= (p.Arg176=)
c.334G=
n.484G=
n.67G=
n.208C=
c.101G= (p.Arg34=)
n.864G=
n.810G=
3g.193618893G>TCA355788217OPA1,OPA1-AS1c.635G>T (p.Arg212Ile)
c.581G>T (p.Arg194Ile)
c.421G>T
c.676G>T
c.263G>T (p.Arg88Ile)
c.*662G>T (n.*662G>T)
c.241G>T
c.209G>T (p.Arg70Ile)
c.550G>T
c.473G>T (p.Arg158Ile)
c.527G>T (p.Arg176Ile)
c.334G>T
n.484G>T
n.67G>T
n.208C>A
c.101G>T (p.Arg34Ile)
n.864G>T
n.810G>T
3g.193618894A>CCA355788218OPA1,OPA1-AS1c.636A>C (p.Arg212Ser)
c.582A>C (p.Arg194Ser)
c.422A>C
c.677A>C
c.264A>C (p.Arg88Ser)
c.*663A>C (n.*663A>C)
c.242A>C
c.210A>C (p.Arg70Ser)
c.551A>C
c.474A>C (p.Arg158Ser)
c.528A>C (p.Arg176Ser)
c.335A>C
n.485A>C
n.68A>C
n.207T>G
c.102A>C (p.Arg34Ser)
n.865A>C
n.811A>C
ClinVar
3g.193618894A>GCA437432409OPA1,OPA1-AS1c.636A>G (p.Arg212=)
c.582A>G (p.Arg194=)
c.422A>G
c.677A>G
c.264A>G (p.Arg88=)
c.*663A>G (n.*663A>G)
c.242A>G
c.210A>G (p.Arg70=)
c.551A>G
c.474A>G (p.Arg158=)
c.528A>G (p.Arg176=)
c.335A>G
n.485A>G
n.68A>G
n.207T>C
c.102A>G (p.Arg34=)
n.865A>G
n.811A>G
3g.193618894A>TCA355788220OPA1,OPA1-AS1c.636A>T (p.Arg212Ser)
c.582A>T (p.Arg194Ser)
c.422A>T
c.677A>T
c.264A>T (p.Arg88Ser)
c.*663A>T (n.*663A>T)
c.242A>T
c.210A>T (p.Arg70Ser)
c.551A>T
c.474A>T (p.Arg158Ser)
c.528A>T (p.Arg176Ser)
c.335A>T
n.485A>T
n.68A>T
n.207T>A
c.102A>T (p.Arg34Ser)
n.865A>T
n.811A>T
3g.193618895G>ACA355788221OPA1,OPA1-AS1c.637G>A (p.Ala213Thr)
c.583G>A (p.Ala195Thr)
c.423G>A
c.678G>A
c.265G>A (p.Ala89Thr)
c.*664G>A (n.*664G>A)
c.243G>A
c.211G>A (p.Ala71Thr)
c.552G>A
c.475G>A (p.Ala159Thr)
c.529G>A (p.Ala177Thr)
c.336G>A
n.486G>A
n.69G>A
n.206C>T
c.103G>A (p.Ala35Thr)
n.866G>A
n.812G>A
dbSNP
3g.193618895G>CCA355788222OPA1,OPA1-AS1c.637G>C (p.Ala213Pro)
c.583G>C (p.Ala195Pro)
c.423G>C
c.678G>C
c.265G>C (p.Ala89Pro)
c.*664G>C (n.*664G>C)
c.243G>C
c.211G>C (p.Ala71Pro)
c.552G>C
c.475G>C (p.Ala159Pro)
c.529G>C (p.Ala177Pro)
c.336G>C
n.486G>C
n.69G>C
n.206C>G
c.103G>C (p.Ala35Pro)
n.866G>C
n.812G>C
3g.193618895G=CA1430262120OPA1,OPA1-AS1c.637G= (p.Ala213=)
c.583G= (p.Ala195=)
c.423G=
c.678G=
c.265G= (p.Ala89=)
c.*664G= (n.*664G=)
c.243G=
c.211G= (p.Ala71=)
c.552G=
c.475G= (p.Ala159=)
c.529G= (p.Ala177=)
c.336G=
n.486G=
n.69G=
n.206C=
c.103G= (p.Ala35=)
n.866G=
n.812G=
3g.193618895G>TCA355788223OPA1,OPA1-AS1c.637G>T (p.Ala213Ser)
c.583G>T (p.Ala195Ser)
c.423G>T
c.678G>T
c.265G>T (p.Ala89Ser)
c.*664G>T (n.*664G>T)
c.243G>T
c.211G>T (p.Ala71Ser)
c.552G>T
c.475G>T (p.Ala159Ser)
c.529G>T (p.Ala177Ser)
c.336G>T
n.486G>T
n.69G>T
n.206C>A
c.103G>T (p.Ala35Ser)
n.866G>T
n.812G>T
3g.193618896C>ACA355788224OPA1,OPA1-AS1c.638C>A (p.Ala213Glu)
c.584C>A (p.Ala195Glu)
c.424C>A
c.679C>A
c.266C>A (p.Ala89Glu)
c.*665C>A (n.*665C>A)
c.244C>A
c.212C>A (p.Ala71Glu)
c.553C>A
c.476C>A (p.Ala159Glu)
c.530C>A (p.Ala177Glu)
c.337C>A
n.487C>A
n.70C>A
n.205G>T
c.104C>A (p.Ala35Glu)
n.867C>A
n.813C>A
3g.193618896C>GCA355788227OPA1,OPA1-AS1c.638C>G (p.Ala213Gly)
c.584C>G (p.Ala195Gly)
c.424C>G
c.679C>G
c.266C>G (p.Ala89Gly)
c.*665C>G (n.*665C>G)
c.244C>G
c.212C>G (p.Ala71Gly)
c.553C>G
c.476C>G (p.Ala159Gly)
c.530C>G (p.Ala177Gly)
c.337C>G
n.487C>G
n.70C>G
n.205G>C
c.104C>G (p.Ala35Gly)
n.867C>G
n.813C>G
3g.193618896C>TCA355788229OPA1,OPA1-AS1c.638C>T (p.Ala213Val)
c.584C>T (p.Ala195Val)
c.424C>T
c.679C>T
c.266C>T (p.Ala89Val)
c.*665C>T (n.*665C>T)
c.244C>T
c.212C>T (p.Ala71Val)
c.553C>T
c.476C>T (p.Ala159Val)
c.530C>T (p.Ala177Val)
c.337C>T
n.487C>T
n.70C>T
n.205G>A
c.104C>T (p.Ala35Val)
n.867C>T
n.813C>T
3g.193618897A>CCA437432412OPA1,OPA1-AS1c.639A>C (p.Ala213=)
c.585A>C (p.Ala195=)
c.425A>C
c.680A>C
c.267A>C (p.Ala89=)
c.*666A>C (n.*666A>C)
c.245A>C
c.213A>C (p.Ala71=)
c.554A>C
c.477A>C (p.Ala159=)
c.531A>C (p.Ala177=)
c.338A>C
n.488A>C
n.71A>C
n.204T>G
c.105A>C (p.Ala35=)
n.868A>C
n.814A>C
3g.193618897A>GCA437432410OPA1,OPA1-AS1c.639A>G (p.Ala213=)
c.585A>G (p.Ala195=)
c.425A>G
c.680A>G
c.267A>G (p.Ala89=)
c.*666A>G (n.*666A>G)
c.245A>G
c.213A>G (p.Ala71=)
c.554A>G
c.477A>G (p.Ala159=)
c.531A>G (p.Ala177=)
c.338A>G
n.488A>G
n.71A>G
n.204T>C
c.105A>G (p.Ala35=)
n.868A>G
n.814A>G
3g.193618897A>TCA437432411OPA1,OPA1-AS1c.639A>T (p.Ala213=)
c.585A>T (p.Ala195=)
c.425A>T
c.680A>T
c.267A>T (p.Ala89=)
c.*666A>T (n.*666A>T)
c.245A>T
c.213A>T (p.Ala71=)
c.554A>T
c.477A>T (p.Ala159=)
c.531A>T (p.Ala177=)
c.338A>T
n.488A>T
n.71A>T
n.204T>A
c.105A>T (p.Ala35=)
n.868A>T
n.814A>T
3g.193618898dupCA2586973323OPA1,OPA1-AS1c.640dup (p.Thr214AsnfsTer6)
c.586dup (p.Thr196AsnfsTer6)
c.426dup
c.681dup
c.268dup (p.Thr90AsnfsTer6)
c.*667dup (n.*667dup)
c.246dup
c.214dup (p.Thr72AsnfsTer6)
c.555dup
c.478dup (p.Thr160AsnfsTer6)
c.532dup (p.Thr178AsnfsTer6)
c.339dup
n.489dup
n.72dup
n.204dup
c.106dup (p.Thr36AsnfsTer6)
n.869dup
n.815dup
3g.193618898A>CCA355788234OPA1,OPA1-AS1c.640A>C (p.Thr214Pro)
c.586A>C (p.Thr196Pro)
c.426A>C
c.681A>C
c.268A>C (p.Thr90Pro)
c.*667A>C (n.*667A>C)
c.246A>C
c.214A>C (p.Thr72Pro)
c.555A>C
c.478A>C (p.Thr160Pro)
c.532A>C (p.Thr178Pro)
c.339A>C
n.489A>C
n.72A>C
n.203T>G
c.106A>C (p.Thr36Pro)
n.869A>C
n.815A>C
3g.193618898A>GCA355788231OPA1,OPA1-AS1c.640A>G (p.Thr214Ala)
c.586A>G (p.Thr196Ala)
c.426A>G
c.681A>G
c.268A>G (p.Thr90Ala)
c.*667A>G (n.*667A>G)
c.246A>G
c.214A>G (p.Thr72Ala)
c.555A>G
c.478A>G (p.Thr160Ala)
c.532A>G (p.Thr178Ala)
c.339A>G
n.489A>G
n.72A>G
n.203T>C
c.106A>G (p.Thr36Ala)
n.869A>G
n.815A>G
ClinVar
3g.193618898A>TCA355788233OPA1,OPA1-AS1c.640A>T (p.Thr214Ser)
c.586A>T (p.Thr196Ser)
c.426A>T
c.681A>T
c.268A>T (p.Thr90Ser)
c.*667A>T (n.*667A>T)
c.246A>T
c.214A>T (p.Thr72Ser)
c.555A>T
c.478A>T (p.Thr160Ser)
c.532A>T (p.Thr178Ser)
c.339A>T
n.489A>T
n.72A>T
n.203T>A
c.106A>T (p.Thr36Ser)
n.869A>T
n.815A>T
3g.193618899C>ACA355788236OPA1,OPA1-AS1c.641C>A (p.Thr214Lys)
c.587C>A (p.Thr196Lys)
c.427C>A
c.682C>A
c.269C>A (p.Thr90Lys)
c.*668C>A (n.*668C>A)
c.247C>A
c.215C>A (p.Thr72Lys)
c.556C>A
c.479C>A (p.Thr160Lys)
c.533C>A (p.Thr178Lys)
c.340C>A
n.490C>A
n.73C>A
n.202G>T
c.107C>A (p.Thr36Lys)
n.870C>A
n.816C>A
3g.193618899C=CA1430262121OPA1,OPA1-AS1c.641C= (p.Thr214=)
c.587C= (p.Thr196=)
c.427C=
c.682C=
c.269C= (p.Thr90=)
c.*668C= (n.*668C=)
c.247C=
c.215C= (p.Thr72=)
c.556C=
c.479C= (p.Thr160=)
c.533C= (p.Thr178=)
c.340C=
n.490C=
n.73C=
n.202G=
c.107C= (p.Thr36=)
n.870C=
n.816C=
3g.193618899C>GCA355788238OPA1,OPA1-AS1c.641C>G (p.Thr214Arg)
c.587C>G (p.Thr196Arg)
c.427C>G
c.682C>G
c.269C>G (p.Thr90Arg)
c.*668C>G (n.*668C>G)
c.247C>G
c.215C>G (p.Thr72Arg)
c.556C>G
c.479C>G (p.Thr160Arg)
c.533C>G (p.Thr178Arg)
c.340C>G
n.490C>G
n.73C>G
n.202G>C
c.107C>G (p.Thr36Arg)
n.870C>G
n.816C>G
ClinVar dbSNP
3g.193618899C>TCA355788240OPA1,OPA1-AS1c.641C>T (p.Thr214Ile)
c.587C>T (p.Thr196Ile)
c.427C>T
c.682C>T
c.269C>T (p.Thr90Ile)
c.*668C>T (n.*668C>T)
c.247C>T
c.215C>T (p.Thr72Ile)
c.556C>T
c.479C>T (p.Thr160Ile)
c.533C>T (p.Thr178Ile)
c.340C>T
n.490C>T
n.73C>T
n.202G>A
c.107C>T (p.Thr36Ile)
n.870C>T
n.816C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.193618899_193618900insTCCA2550366929OPA1,OPA1-AS1c.641_642insTC (p.Asp215GlnfsTer?)
c.587_588insTC (p.Asp197GlnfsTer?)
c.427_428insTC
c.682_683insTC
c.269_270insTC (p.Asp91GlnfsTer?)
c.*668_*669insTC (n.*668_*669insTC)
c.247_248insTC
c.215_216insTC (p.Asp73GlnfsTer?)
c.556_557insTC
c.479_480insTC (p.Asp161GlnfsTer?)
c.533_534insTC (p.Asp179GlnfsTer?)
c.340_341insTC
n.490_491insTC
n.73_74insTC
n.202_203insAG
c.107_108insTC (p.Asp37GlnfsTer?)
n.870_871insTC
n.816_817insTC
3g.193618900A>CCA437432414OPA1,OPA1-AS1c.642A>C (p.Thr214=)
c.588A>C (p.Thr196=)
c.428A>C
c.683A>C
c.270A>C (p.Thr90=)
c.*669A>C (n.*669A>C)
c.248A>C
c.216A>C (p.Thr72=)
c.557A>C
c.480A>C (p.Thr160=)
c.534A>C (p.Thr178=)
c.341A>C
n.491A>C
n.74A>C
n.201T>G
c.108A>C (p.Thr36=)
n.871A>C
n.817A>C
3g.193618900A>GCA437432415OPA1,OPA1-AS1c.642A>G (p.Thr214=)
c.588A>G (p.Thr196=)
c.428A>G
c.683A>G
c.270A>G (p.Thr90=)
c.*669A>G (n.*669A>G)
c.248A>G
c.216A>G (p.Thr72=)
c.557A>G
c.480A>G (p.Thr160=)
c.534A>G (p.Thr178=)
c.341A>G
n.491A>G
n.74A>G
n.201T>C
c.108A>G (p.Thr36=)
n.871A>G
n.817A>G
gnomAD v4
3g.193618900A>TCA437432416OPA1,OPA1-AS1c.642A>T (p.Thr214=)
c.588A>T (p.Thr196=)
c.428A>T
c.683A>T
c.270A>T (p.Thr90=)
c.*669A>T (n.*669A>T)
c.248A>T
c.216A>T (p.Thr72=)
c.557A>T
c.480A>T (p.Thr160=)
c.534A>T (p.Thr178=)
c.341A>T
n.491A>T
n.74A>T
n.201T>A
c.108A>T (p.Thr36=)
n.871A>T
n.817A>T
3g.193618901G>ACA355788241OPA1,OPA1-AS1c.643G>A (p.Asp215Asn)
c.589G>A (p.Asp197Asn)
c.429G>A
c.684G>A
c.271G>A (p.Asp91Asn)
c.*670G>A (n.*670G>A)
c.249G>A
c.217G>A (p.Asp73Asn)
c.558G>A
c.481G>A (p.Asp161Asn)
c.535G>A (p.Asp179Asn)
c.342G>A
n.492G>A
n.75G>A
n.200C>T
c.109G>A (p.Asp37Asn)
n.872G>A
n.818G>A
3g.193618901G>CCA355788242OPA1,OPA1-AS1c.643G>C (p.Asp215His)
c.589G>C (p.Asp197His)
c.429G>C
c.684G>C
c.271G>C (p.Asp91His)
c.*670G>C (n.*670G>C)
c.249G>C
c.217G>C (p.Asp73His)
c.558G>C
c.481G>C (p.Asp161His)
c.535G>C (p.Asp179His)
c.342G>C
n.492G>C
n.75G>C
n.200C>G
c.109G>C (p.Asp37His)
n.872G>C
n.818G>C
3g.193618901G>TCA355788244OPA1,OPA1-AS1c.643G>T (p.Asp215Tyr)
c.589G>T (p.Asp197Tyr)
c.429G>T
c.684G>T
c.271G>T (p.Asp91Tyr)
c.*670G>T (n.*670G>T)
c.249G>T
c.217G>T (p.Asp73Tyr)
c.558G>T
c.481G>T (p.Asp161Tyr)
c.535G>T (p.Asp179Tyr)
c.342G>T
n.492G>T
n.75G>T
n.200C>A
c.109G>T (p.Asp37Tyr)
n.872G>T
n.818G>T
3g.193618902A>CCA355788246OPA1,OPA1-AS1c.644A>C (p.Asp215Ala)
c.590A>C (p.Asp197Ala)
c.430A>C
c.685A>C
c.272A>C (p.Asp91Ala)
c.*671A>C (n.*671A>C)
c.250A>C
c.218A>C (p.Asp73Ala)
c.559A>C
c.482A>C (p.Asp161Ala)
c.536A>C (p.Asp179Ala)
c.343A>C
n.493A>C
n.76A>C
n.199T>G
c.110A>C (p.Asp37Ala)
n.873A>C
n.819A>C
3g.193618902A>GCA355788248OPA1,OPA1-AS1c.644A>G (p.Asp215Gly)
c.590A>G (p.Asp197Gly)
c.430A>G
c.685A>G
c.272A>G (p.Asp91Gly)
c.*671A>G (n.*671A>G)
c.250A>G
c.218A>G (p.Asp73Gly)
c.559A>G
c.482A>G (p.Asp161Gly)
c.536A>G (p.Asp179Gly)
c.343A>G
n.493A>G
n.76A>G
n.199T>C
c.110A>G (p.Asp37Gly)
n.873A>G
n.819A>G
gnomAD v4
3g.193618902A>TCA355788249OPA1,OPA1-AS1c.644A>T (p.Asp215Val)
c.590A>T (p.Asp197Val)
c.430A>T
c.685A>T
c.272A>T (p.Asp91Val)
c.*671A>T (n.*671A>T)
c.250A>T
c.218A>T (p.Asp73Val)
c.559A>T
c.482A>T (p.Asp161Val)
c.536A>T (p.Asp179Val)
c.343A>T
n.493A>T
n.76A>T
n.199T>A
c.110A>T (p.Asp37Val)
n.873A>T
n.819A>T
3g.193618903_193618904insTCAAAGAATCAAATCA2548534905OPA1,OPA1-AS1c.645_646insTCAAAGAATCAAAT (p.Arg216SerfsTer?)
c.591_592insTCAAAGAATCAAAT (p.Arg198SerfsTer?)
c.431_432insTCAAAGAATCAAAT
c.686_687insTCAAAGAATCAAAT
c.273_274insTCAAAGAATCAAAT (p.Arg92SerfsTer?)
c.*672_*673insTCAAAGAATCAAAT (n.*672_*673insTCAAAGAATCAAAT)
c.251_252insTCAAAGAATCAAAT
c.219_220insTCAAAGAATCAAAT (p.Arg74SerfsTer?)
c.560_561insTCAAAGAATCAAAT
c.483_484insTCAAAGAATCAAAT (p.Arg162SerfsTer?)
c.537_538insTCAAAGAATCAAAT (p.Arg180SerfsTer?)
c.344_345insTCAAAGAATCAAAT
n.494_495insTCAAAGAATCAAAT
n.77_78insTCAAAGAATCAAAT
n.199_200insTTGATTCTTTGAAT
c.111_112insTCAAAGAATCAAAT (p.Arg38SerfsTer?)
n.874_875insTCAAAGAATCAAAT
n.820_821insTCAAAGAATCAAAT
3g.193618903T>ACA355788250OPA1,OPA1-AS1c.645T>A (p.Asp215Glu)
c.591T>A (p.Asp197Glu)
c.431T>A
c.686T>A
c.273T>A (p.Asp91Glu)
c.*672T>A (n.*672T>A)
c.251T>A
c.219T>A (p.Asp73Glu)
c.560T>A
c.483T>A (p.Asp161Glu)
c.537T>A (p.Asp179Glu)
c.344T>A
n.494T>A
n.77T>A
n.198A>T
c.111T>A (p.Asp37Glu)
n.874T>A
n.820T>A
3g.193618903T>CCA437432417OPA1,OPA1-AS1c.645T>C (p.Asp215=)
c.591T>C (p.Asp197=)
c.431T>C
c.686T>C
c.273T>C (p.Asp91=)
c.*672T>C (n.*672T>C)
c.251T>C
c.219T>C (p.Asp73=)
c.560T>C
c.483T>C (p.Asp161=)
c.537T>C (p.Asp179=)
c.344T>C
n.494T>C
n.77T>C
n.198A>G
c.111T>C (p.Asp37=)
n.874T>C
n.820T>C

Number of alleles fetched