Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.193618887delCA2586973321OPA1,OPA1-AS1c.629del (p.Ala210GlyfsTer?)
c.575del (p.Ala192GlyfsTer?)
c.415del
c.670del
c.257del (p.Ala86GlyfsTer?)
c.*656del (n.*656del)
c.235del
c.203del (p.Ala68GlyfsTer?)
c.544del
c.467del (p.Ala156GlyfsTer?)
c.521del (p.Ala174GlyfsTer?)
c.328del
n.478del
n.61del
n.214del
c.95del (p.Ala32GlyfsTer?)
n.858del
n.804del
3g.193618887C>ACA355788196OPA1,OPA1-AS1c.629C>A (p.Ala210Glu)
c.575C>A (p.Ala192Glu)
c.415C>A
c.670C>A
c.257C>A (p.Ala86Glu)
c.*656C>A (n.*656C>A)
c.235C>A
c.203C>A (p.Ala68Glu)
c.544C>A
c.467C>A (p.Ala156Glu)
c.521C>A (p.Ala174Glu)
c.328C>A
n.478C>A
n.61C>A
n.214G>T
c.95C>A (p.Ala32Glu)
n.858C>A
n.804C>A
3g.193618887C=CA1430262108OPA1,OPA1-AS1c.629C= (p.Ala210=)
c.575C= (p.Ala192=)
c.415C=
c.670C=
c.257C= (p.Ala86=)
c.*656C= (n.*656C=)
c.235C=
c.203C= (p.Ala68=)
c.544C=
c.467C= (p.Ala156=)
c.521C= (p.Ala174=)
c.328C=
n.478C=
n.61C=
n.214G=
c.95C= (p.Ala32=)
n.858C=
n.804C=
3g.193618887C>GCA355788197OPA1,OPA1-AS1c.629C>G (p.Ala210Gly)
c.575C>G (p.Ala192Gly)
c.415C>G
c.670C>G
c.257C>G (p.Ala86Gly)
c.*656C>G (n.*656C>G)
c.235C>G
c.203C>G (p.Ala68Gly)
c.544C>G
c.467C>G (p.Ala156Gly)
c.521C>G (p.Ala174Gly)
c.328C>G
n.478C>G
n.61C>G
n.214G>C
c.95C>G (p.Ala32Gly)
n.858C>G
n.804C>G
3g.193618887C>TCA285739OPA1,OPA1-AS1c.629C>T (p.Ala210Val)
c.575C>T (p.Ala192Val)
c.415C>T
c.670C>T
c.257C>T (p.Ala86Val)
c.*656C>T (n.*656C>T)
c.235C>T
c.203C>T (p.Ala68Val)
c.544C>T
c.467C>T (p.Ala156Val)
c.521C>T (p.Ala174Val)
c.328C>T
n.478C>T
n.61C>T
n.214G>A
c.95C>T (p.Ala32Val)
n.858C>T
n.804C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.193618887_193618889delinsGCCA2580070533OPA1,OPA1-AS1c.629_631delinsGC (p.Ala210GlyfsTer?)
c.575_577delinsGC (p.Ala192GlyfsTer?)
c.415_417delinsGC
c.670_672delinsGC
c.257_259delinsGC (p.Ala86GlyfsTer?)
c.*656_*658delinsGC (n.*656_*658delinsGC)
c.235_237delinsGC
c.203_205delinsGC (p.Ala68GlyfsTer?)
c.544_546delinsGC
c.467_469delinsGC (p.Ala156GlyfsTer?)
c.521_523delinsGC (p.Ala174GlyfsTer?)
c.328_330delinsGC
n.478_480delinsGC
n.61_63delinsGC
n.212_214delinsGC
c.95_97delinsGC (p.Ala32GlyfsTer?)
n.858_860delinsGC
n.804_806delinsGC
 ClinVar dbSNP
3g.193618888G>ACA2759086OPA1,OPA1-AS1c.630G>A (p.Ala210=)
c.576G>A (p.Ala192=)
c.416G>A
c.671G>A
c.258G>A (p.Ala86=)
c.*657G>A (n.*657G>A)
c.236G>A
c.204G>A (p.Ala68=)
c.545G>A
c.468G>A (p.Ala156=)
c.522G>A (p.Ala174=)
c.329G>A
n.479G>A
n.62G>A
n.213C>T
c.96G>A (p.Ala32=)
n.859G>A
n.805G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.193618888G>CCA437432405OPA1,OPA1-AS1c.630G>C (p.Ala210=)
c.576G>C (p.Ala192=)
c.416G>C
c.671G>C
c.258G>C (p.Ala86=)
c.*657G>C (n.*657G>C)
c.236G>C
c.204G>C (p.Ala68=)
c.545G>C
c.468G>C (p.Ala156=)
c.522G>C (p.Ala174=)
c.329G>C
n.479G>C
n.62G>C
n.213C>G
c.96G>C (p.Ala32=)
n.859G>C
n.805G>C
3g.193618888G=CA1430262115OPA1,OPA1-AS1c.630G= (p.Ala210=)
c.576G= (p.Ala192=)
c.416G=
c.671G=
c.258G= (p.Ala86=)
c.*657G= (n.*657G=)
c.236G=
c.204G= (p.Ala68=)
c.545G=
c.468G= (p.Ala156=)
c.522G= (p.Ala174=)
c.329G=
n.479G=
n.62G=
n.213C=
c.96G= (p.Ala32=)
n.859G=
n.805G=
3g.193618888G>TCA437432406OPA1,OPA1-AS1c.630G>T (p.Ala210=)
c.576G>T (p.Ala192=)
c.416G>T
c.671G>T
c.258G>T (p.Ala86=)
c.*657G>T (n.*657G>T)
c.236G>T
c.204G>T (p.Ala68=)
c.545G>T
c.468G>T (p.Ala156=)
c.522G>T (p.Ala174=)
c.329G>T
n.479G>T
n.62G>T
n.213C>A
c.96G>T (p.Ala32=)
n.859G>T
n.805G>T
3g.193618889T>ACA355788201OPA1,OPA1-AS1c.631T>A (p.Phe211Ile)
c.577T>A (p.Phe193Ile)
c.417T>A
c.672T>A
c.259T>A (p.Phe87Ile)
c.*658T>A (n.*658T>A)
c.237T>A
c.205T>A (p.Phe69Ile)
c.546T>A
c.469T>A (p.Phe157Ile)
c.523T>A (p.Phe175Ile)
c.330T>A
n.480T>A
n.63T>A
n.212A>T
c.97T>A (p.Phe33Ile)
n.860T>A
n.806T>A
3g.193618889T>CCA355788203OPA1,OPA1-AS1c.631T>C (p.Phe211Leu)
c.577T>C (p.Phe193Leu)
c.417T>C
c.672T>C
c.259T>C (p.Phe87Leu)
c.*658T>C (n.*658T>C)
c.237T>C
c.205T>C (p.Phe69Leu)
c.546T>C
c.469T>C (p.Phe157Leu)
c.523T>C (p.Phe175Leu)
c.330T>C
n.480T>C
n.63T>C
n.212A>G
c.97T>C (p.Phe33Leu)
n.860T>C
n.806T>C
 dbSNP
3g.193618889T>GCA355788204OPA1,OPA1-AS1c.631T>G (p.Phe211Val)
c.577T>G (p.Phe193Val)
c.417T>G
c.672T>G
c.259T>G (p.Phe87Val)
c.*658T>G (n.*658T>G)
c.237T>G
c.205T>G (p.Phe69Val)
c.546T>G
c.469T>G (p.Phe157Val)
c.523T>G (p.Phe175Val)
c.330T>G
n.480T>G
n.63T>G
n.212A>C
c.97T>G (p.Phe33Val)
n.860T>G
n.806T>G
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
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched