Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.193637959_193637964delCA2586973426OPA1c.1043_1048del (p.Val348_Val349del)
c.878_883del (p.Val293_Val294del)
c.989_994del (p.Val330_Val331del)
c.932_937del (p.Val311_Val312del)
c.973_978del
c.560_565del (p.Val187_Val188del)
c.*959_*964del (n.*959_*964del)
c.538_543del
c.506_511del (p.Val169_Val170del)
c.847_852del
c.893_898del (p.Val298_Val299del)
c.*356_*361del (n.*356_*361del)
c.770_775del (p.Val257_Val258del)
c.881_886del (p.Val294_Val295del)
c.935_940del (p.Val312_Val313del)
n.74_79del
n.399_404del
n.364_369del
c.824_829del (p.Val275_Val276del)
c.509_514del (p.Val170_Val171del)
n.1272_1277del
n.1107_1112del
3g.193637961G>ACA355788149OPA1c.1045G>A (p.Val349Ile)
c.880G>A (p.Val294Ile)
c.991G>A (p.Val331Ile)
c.934G>A (p.Val312Ile)
c.975G>A
c.562G>A (p.Val188Ile)
c.*961G>A (n.*961G>A)
c.540G>A
c.508G>A (p.Val170Ile)
c.849G>A
c.895G>A (p.Val299Ile)
c.*358G>A (n.*358G>A)
c.772G>A (p.Val258Ile)
c.883G>A (p.Val295Ile)
c.937G>A (p.Val313Ile)
n.76G>A
n.401G>A
n.366G>A
c.826G>A (p.Val276Ile)
c.511G>A (p.Val171Ile)
n.1274G>A
n.1109G>A
3g.193637961G>CCA355788147OPA1c.1045G>C (p.Val349Leu)
c.880G>C (p.Val294Leu)
c.991G>C (p.Val331Leu)
c.934G>C (p.Val312Leu)
c.975G>C
c.562G>C (p.Val188Leu)
c.*961G>C (n.*961G>C)
c.540G>C
c.508G>C (p.Val170Leu)
c.849G>C
c.895G>C (p.Val299Leu)
c.*358G>C (n.*358G>C)
c.772G>C (p.Val258Leu)
c.883G>C (p.Val295Leu)
c.937G>C (p.Val313Leu)
n.76G>C
n.401G>C
n.366G>C
c.826G>C (p.Val276Leu)
c.511G>C (p.Val171Leu)
n.1274G>C
n.1109G>C
3g.193637961G=CA1430236610OPA1c.1045G= (p.Val349=)
c.880G= (p.Val294=)
c.991G= (p.Val331=)
c.934G= (p.Val312=)
c.975G=
c.562G= (p.Val188=)
c.*961G= (n.*961G=)
c.540G=
c.508G= (p.Val170=)
c.849G=
c.895G= (p.Val299=)
c.*358G= (n.*358G=)
c.772G= (p.Val258=)
c.883G= (p.Val295=)
c.937G= (p.Val313=)
n.76G=
n.401G=
n.366G=
c.826G= (p.Val276=)
c.511G= (p.Val171=)
n.1274G=
n.1109G=
3g.193637961G>TCA320567OPA1c.1045G>T (p.Val349Phe)
c.880G>T (p.Val294Phe)
c.991G>T (p.Val331Phe)
c.934G>T (p.Val312Phe)
c.975G>T
c.562G>T (p.Val188Phe)
c.*961G>T (n.*961G>T)
c.540G>T
c.508G>T (p.Val170Phe)
c.849G>T
c.895G>T (p.Val299Phe)
c.*358G>T (n.*358G>T)
c.772G>T (p.Val258Phe)
c.883G>T (p.Val295Phe)
c.937G>T (p.Val313Phe)
n.76G>T
n.401G>T
n.366G>T
c.826G>T (p.Val276Phe)
c.511G>T (p.Val171Phe)
n.1274G>T
n.1109G>T
 ClinVar dbSNP
3g.193637962T>ACA355788153OPA1c.1046T>A (p.Val349Asp)
c.881T>A (p.Val294Asp)
c.992T>A (p.Val331Asp)
c.935T>A (p.Val312Asp)
c.976T>A
c.563T>A (p.Val188Asp)
c.*962T>A (n.*962T>A)
c.541T>A
c.509T>A (p.Val170Asp)
c.850T>A
c.896T>A (p.Val299Asp)
c.*359T>A (n.*359T>A)
c.773T>A (p.Val258Asp)
c.884T>A (p.Val295Asp)
c.938T>A (p.Val313Asp)
n.77T>A
n.402T>A
n.367T>A
c.827T>A (p.Val276Asp)
c.512T>A (p.Val171Asp)
n.1275T>A
n.1110T>A
3g.193637962T>CCA355788154OPA1c.1046T>C (p.Val349Ala)
c.881T>C (p.Val294Ala)
c.992T>C (p.Val331Ala)
c.935T>C (p.Val312Ala)
c.976T>C
c.563T>C (p.Val188Ala)
c.*962T>C (n.*962T>C)
c.541T>C
c.509T>C (p.Val170Ala)
c.850T>C
c.896T>C (p.Val299Ala)
c.*359T>C (n.*359T>C)
c.773T>C (p.Val258Ala)
c.884T>C (p.Val295Ala)
c.938T>C (p.Val313Ala)
n.77T>C
n.402T>C
n.367T>C
c.827T>C (p.Val276Ala)
c.512T>C (p.Val171Ala)
n.1275T>C
n.1110T>C
3g.193637962T>GCA355788155OPA1c.1046T>G (p.Val349Gly)
c.881T>G (p.Val294Gly)
c.992T>G (p.Val331Gly)
c.935T>G (p.Val312Gly)
c.976T>G
c.563T>G (p.Val188Gly)
c.*962T>G (n.*962T>G)
c.541T>G
c.509T>G (p.Val170Gly)
c.850T>G
c.896T>G (p.Val299Gly)
c.*359T>G (n.*359T>G)
c.773T>G (p.Val258Gly)
c.884T>G (p.Val295Gly)
c.938T>G (p.Val313Gly)
n.77T>G
n.402T>G
n.367T>G
c.827T>G (p.Val276Gly)
c.512T>G (p.Val171Gly)
n.1275T>G
n.1110T>G
3g.193637963T>ACA437434348OPA1c.1047T>A (p.Val349=)
c.882T>A (p.Val294=)
c.993T>A (p.Val331=)
c.936T>A (p.Val312=)
c.977T>A
c.564T>A (p.Val188=)
c.*963T>A (n.*963T>A)
c.542T>A
c.510T>A (p.Val170=)
c.851T>A
c.897T>A (p.Val299=)
c.*360T>A (n.*360T>A)
c.774T>A (p.Val258=)
c.885T>A (p.Val295=)
c.939T>A (p.Val313=)
n.78T>A
n.403T>A
n.368T>A
c.828T>A (p.Val276=)
c.513T>A (p.Val171=)
n.1276T>A
n.1111T>A
3g.193637963T>CCA437434345OPA1c.1047T>C (p.Val349=)
c.882T>C (p.Val294=)
c.993T>C (p.Val331=)
c.936T>C (p.Val312=)
c.977T>C
c.564T>C (p.Val188=)
c.*963T>C (n.*963T>C)
c.542T>C
c.510T>C (p.Val170=)
c.851T>C
c.897T>C (p.Val299=)
c.*360T>C (n.*360T>C)
c.774T>C (p.Val258=)
c.885T>C (p.Val295=)
c.939T>C (p.Val313=)
n.78T>C
n.403T>C
n.368T>C
c.828T>C (p.Val276=)
c.513T>C (p.Val171=)
n.1276T>C
n.1111T>C
3g.193637963T>GCA437434346OPA1c.1047T>G (p.Val349=)
c.882T>G (p.Val294=)
c.993T>G (p.Val331=)
c.936T>G (p.Val312=)
c.977T>G
c.564T>G (p.Val188=)
c.*963T>G (n.*963T>G)
c.542T>G
c.510T>G (p.Val170=)
c.851T>G
c.897T>G (p.Val299=)
c.*360T>G (n.*360T>G)
c.774T>G (p.Val258=)
c.885T>G (p.Val295=)
c.939T>G (p.Val313=)
n.78T>G
n.403T>G
n.368T>G
c.828T>G (p.Val276=)
c.513T>G (p.Val171=)
n.1276T>G
n.1111T>G
3g.193637964G>ACA355788157OPA1c.1048G>A (p.Gly350Arg)
c.883G>A (p.Gly295Arg)
c.994G>A (p.Gly332Arg)
c.937G>A (p.Gly313Arg)
c.978G>A
c.565G>A (p.Gly189Arg)
c.*964G>A (n.*964G>A)
c.543G>A
c.511G>A (p.Gly171Arg)
c.852G>A
c.898G>A (p.Gly300Arg)
c.*361G>A (n.*361G>A)
c.775G>A (p.Gly259Arg)
c.886G>A (p.Gly296Arg)
c.940G>A (p.Gly314Arg)
n.79G>A
n.404G>A
n.369G>A
c.829G>A (p.Gly277Arg)
c.514G>A (p.Gly172Arg)
n.1277G>A
n.1112G>A
3g.193637964G>CCA355788160OPA1c.1048G>C (p.Gly350Arg)
c.883G>C (p.Gly295Arg)
c.994G>C (p.Gly332Arg)
c.937G>C (p.Gly313Arg)
c.978G>C
c.565G>C (p.Gly189Arg)
c.*964G>C (n.*964G>C)
c.543G>C
c.511G>C (p.Gly171Arg)
c.852G>C
c.898G>C (p.Gly300Arg)
c.*361G>C (n.*361G>C)
c.775G>C (p.Gly259Arg)
c.886G>C (p.Gly296Arg)
c.940G>C (p.Gly314Arg)
n.79G>C
n.404G>C
n.369G>C
c.829G>C (p.Gly277Arg)
c.514G>C (p.Gly172Arg)
n.1277G>C
n.1112G>C
3g.193637964G>TCA355788162OPA1c.1048G>T (p.Gly350Ter)
c.883G>T (p.Gly295Ter)
c.994G>T (p.Gly332Ter)
c.937G>T (p.Gly313Ter)
c.978G>T
c.565G>T (p.Gly189Ter)
c.*964G>T (n.*964G>T)
c.543G>T
c.511G>T (p.Gly171Ter)
c.852G>T
c.898G>T (p.Gly300Ter)
c.*361G>T (n.*361G>T)
c.775G>T (p.Gly259Ter)
c.886G>T (p.Gly296Ter)
c.940G>T (p.Gly314Ter)
n.79G>T
n.404G>T
n.369G>T
c.829G>T (p.Gly277Ter)
c.514G>T (p.Gly172Ter)
n.1277G>T
n.1112G>T
3g.193637965G>ACA355788163OPA1c.1049G>A (p.Gly350Glu)
c.884G>A (p.Gly295Glu)
c.995G>A (p.Gly332Glu)
c.938G>A (p.Gly313Glu)
c.979G>A
c.566G>A (p.Gly189Glu)
c.*965G>A (n.*965G>A)
c.544G>A
c.512G>A (p.Gly171Glu)
c.853G>A
c.899G>A (p.Gly300Glu)
c.*362G>A (n.*362G>A)
c.776G>A (p.Gly259Glu)
c.887G>A (p.Gly296Glu)
c.941G>A (p.Gly314Glu)
n.80G>A
n.405G>A
n.370G>A
c.830G>A (p.Gly277Glu)
c.515G>A (p.Gly172Glu)
n.1278G>A
n.1113G>A
3g.193637965G>CCA355788165OPA1c.1049G>C (p.Gly350Ala)
c.884G>C (p.Gly295Ala)
c.995G>C (p.Gly332Ala)
c.938G>C (p.Gly313Ala)
c.979G>C
c.566G>C (p.Gly189Ala)
c.*965G>C (n.*965G>C)
c.544G>C
c.512G>C (p.Gly171Ala)
c.853G>C
c.899G>C (p.Gly300Ala)
c.*362G>C (n.*362G>C)
c.776G>C (p.Gly259Ala)
c.887G>C (p.Gly296Ala)
c.941G>C (p.Gly314Ala)
n.80G>C
n.405G>C
n.370G>C
c.830G>C (p.Gly277Ala)
c.515G>C (p.Gly172Ala)
n.1278G>C
n.1113G>C
3g.193637965G>TCA355788168OPA1c.1049G>T (p.Gly350Val)
c.884G>T (p.Gly295Val)
c.995G>T (p.Gly332Val)
c.938G>T (p.Gly313Val)
c.979G>T
c.566G>T (p.Gly189Val)
c.*965G>T (n.*965G>T)
c.544G>T
c.512G>T (p.Gly171Val)
c.853G>T
c.899G>T (p.Gly300Val)
c.*362G>T (n.*362G>T)
c.776G>T (p.Gly259Val)
c.887G>T (p.Gly296Val)
c.941G>T (p.Gly314Val)
n.80G>T
n.405G>T
n.370G>T
c.830G>T (p.Gly277Val)
c.515G>T (p.Gly172Val)
n.1278G>T
n.1113G>T
 ClinVar
3g.193637966A>CCA437434353OPA1c.1050A>C (p.Gly350=)
c.885A>C (p.Gly295=)
c.996A>C (p.Gly332=)
c.939A>C (p.Gly313=)
c.980A>C
c.567A>C (p.Gly189=)
c.*966A>C (n.*966A>C)
c.545A>C
c.513A>C (p.Gly171=)
c.854A>C
c.900A>C (p.Gly300=)
c.*363A>C (n.*363A>C)
c.777A>C (p.Gly259=)
c.888A>C (p.Gly296=)
c.942A>C (p.Gly314=)
n.81A>C
n.406A>C
n.371A>C
c.831A>C (p.Gly277=)
c.516A>C (p.Gly172=)
n.1279A>C
n.1114A>C
3g.193637966A>GCA437434354OPA1c.1050A>G (p.Gly350=)
c.885A>G (p.Gly295=)
c.996A>G (p.Gly332=)
c.939A>G (p.Gly313=)
c.980A>G
c.567A>G (p.Gly189=)
c.*966A>G (n.*966A>G)
c.545A>G
c.513A>G (p.Gly171=)
c.854A>G
c.900A>G (p.Gly300=)
c.*363A>G (n.*363A>G)
c.777A>G (p.Gly259=)
c.888A>G (p.Gly296=)
c.942A>G (p.Gly314=)
n.81A>G
n.406A>G
n.371A>G
c.831A>G (p.Gly277=)
c.516A>G (p.Gly172=)
n.1279A>G
n.1114A>G
3g.193637966A>TCA437434356OPA1c.1050A>T (p.Gly350=)
c.885A>T (p.Gly295=)
c.996A>T (p.Gly332=)
c.939A>T (p.Gly313=)
c.980A>T
c.567A>T (p.Gly189=)
c.*966A>T (n.*966A>T)
c.545A>T
c.513A>T (p.Gly171=)
c.854A>T
c.900A>T (p.Gly300=)
c.*363A>T (n.*363A>T)
c.777A>T (p.Gly259=)
c.888A>T (p.Gly296=)
c.942A>T (p.Gly314=)
n.81A>T
n.406A>T
n.371A>T
c.831A>T (p.Gly277=)
c.516A>T (p.Gly172=)
n.1279A>T
n.1114A>T
3g.193637967G>ACA355788171OPA1c.1051G>A (p.Asp351Asn)
c.886G>A (p.Asp296Asn)
c.997G>A (p.Asp333Asn)
c.940G>A (p.Asp314Asn)
c.981G>A
c.568G>A (p.Asp190Asn)
c.*967G>A (n.*967G>A)
c.546G>A
c.514G>A (p.Asp172Asn)
c.855G>A
c.901G>A (p.Asp301Asn)
c.*364G>A (n.*364G>A)
c.778G>A (p.Asp260Asn)
c.889G>A (p.Asp297Asn)
c.943G>A (p.Asp315Asn)
n.82G>A
n.407G>A
n.372G>A
c.832G>A (p.Asp278Asn)
c.517G>A (p.Asp173Asn)
n.1280G>A
n.1115G>A
3g.193637967G>CCA355788173OPA1c.1051G>C (p.Asp351His)
c.886G>C (p.Asp296His)
c.997G>C (p.Asp333His)
c.940G>C (p.Asp314His)
c.981G>C
c.568G>C (p.Asp190His)
c.*967G>C (n.*967G>C)
c.546G>C
c.514G>C (p.Asp172His)
c.855G>C
c.901G>C (p.Asp301His)
c.*364G>C (n.*364G>C)
c.778G>C (p.Asp260His)
c.889G>C (p.Asp297His)
c.943G>C (p.Asp315His)
n.82G>C
n.407G>C
n.372G>C
c.832G>C (p.Asp278His)
c.517G>C (p.Asp173His)
n.1280G>C
n.1115G>C
 ClinVar dbSNP
3g.193637967G=CA1430236617OPA1c.1051G= (p.Asp351=)
c.886G= (p.Asp296=)
c.997G= (p.Asp333=)
c.940G= (p.Asp314=)
c.981G=
c.568G= (p.Asp190=)
c.*967G= (n.*967G=)
c.546G=
c.514G= (p.Asp172=)
c.855G=
c.901G= (p.Asp301=)
c.*364G= (n.*364G=)
c.778G= (p.Asp260=)
c.889G= (p.Asp297=)
c.943G= (p.Asp315=)
n.82G=
n.407G=
n.372G=
c.832G= (p.Asp278=)
c.517G= (p.Asp173=)
n.1280G=
n.1115G=
3g.193637967G>TCA355788175OPA1c.1051G>T (p.Asp351Tyr)
c.886G>T (p.Asp296Tyr)
c.997G>T (p.Asp333Tyr)
c.940G>T (p.Asp314Tyr)
c.981G>T
c.568G>T (p.Asp190Tyr)
c.*967G>T (n.*967G>T)
c.546G>T
c.514G>T (p.Asp172Tyr)
c.855G>T
c.901G>T (p.Asp301Tyr)
c.*364G>T (n.*364G>T)
c.778G>T (p.Asp260Tyr)
c.889G>T (p.Asp297Tyr)
c.943G>T (p.Asp315Tyr)
n.82G>T
n.407G>T
n.372G>T
c.832G>T (p.Asp278Tyr)
c.517G>T (p.Asp173Tyr)
n.1280G>T
n.1115G>T
3g.193637968A>CCA355788178OPA1c.1052A>C (p.Asp351Ala)
c.887A>C (p.Asp296Ala)
c.998A>C (p.Asp333Ala)
c.941A>C (p.Asp314Ala)
c.982A>C
c.569A>C (p.Asp190Ala)
c.*968A>C (n.*968A>C)
c.547A>C
c.515A>C (p.Asp172Ala)
c.856A>C
c.902A>C (p.Asp301Ala)
c.*365A>C (n.*365A>C)
c.779A>C (p.Asp260Ala)
c.890A>C (p.Asp297Ala)
c.944A>C (p.Asp315Ala)
n.83A>C
n.408A>C
n.373A>C
c.833A>C (p.Asp278Ala)
c.518A>C (p.Asp173Ala)
n.1281A>C
n.1116A>C
3g.193637968A>GCA355788182OPA1c.1052A>G (p.Asp351Gly)
c.887A>G (p.Asp296Gly)
c.998A>G (p.Asp333Gly)
c.941A>G (p.Asp314Gly)
c.982A>G
c.569A>G (p.Asp190Gly)
c.*968A>G (n.*968A>G)
c.547A>G
c.515A>G (p.Asp172Gly)
c.856A>G
c.902A>G (p.Asp301Gly)
c.*365A>G (n.*365A>G)
c.779A>G (p.Asp260Gly)
c.890A>G (p.Asp297Gly)
c.944A>G (p.Asp315Gly)
n.83A>G
n.408A>G
n.373A>G
c.833A>G (p.Asp278Gly)
c.518A>G (p.Asp173Gly)
n.1281A>G
n.1116A>G
3g.193637968A>TCA355788180OPA1c.1052A>T (p.Asp351Val)
c.887A>T (p.Asp296Val)
c.998A>T (p.Asp333Val)
c.941A>T (p.Asp314Val)
c.982A>T
c.569A>T (p.Asp190Val)
c.*968A>T (n.*968A>T)
c.547A>T
c.515A>T (p.Asp172Val)
c.856A>T
c.902A>T (p.Asp301Val)
c.*365A>T (n.*365A>T)
c.779A>T (p.Asp260Val)
c.890A>T (p.Asp297Val)
c.944A>T (p.Asp315Val)
n.83A>T
n.408A>T
n.373A>T
c.833A>T (p.Asp278Val)
c.518A>T (p.Asp173Val)
n.1281A>T
n.1116A>T
3g.193637969T>ACA355788185OPA1c.1053T>A (p.Asp351Glu)
c.888T>A (p.Asp296Glu)
c.999T>A (p.Asp333Glu)
c.942T>A (p.Asp314Glu)
c.983T>A
c.570T>A (p.Asp190Glu)
c.*969T>A (n.*969T>A)
c.548T>A
c.516T>A (p.Asp172Glu)
c.857T>A
c.903T>A (p.Asp301Glu)
c.*366T>A (n.*366T>A)
c.780T>A (p.Asp260Glu)
c.891T>A (p.Asp297Glu)
c.945T>A (p.Asp315Glu)
n.84T>A
n.409T>A
n.374T>A
c.834T>A (p.Asp278Glu)
c.519T>A (p.Asp173Glu)
n.1282T>A
n.1117T>A
3g.193637969T>CCA90527431OPA1c.1053T>C (p.Asp351=)
c.888T>C (p.Asp296=)
c.999T>C (p.Asp333=)
c.942T>C (p.Asp314=)
c.983T>C
c.570T>C (p.Asp190=)
c.*969T>C (n.*969T>C)
c.548T>C
c.516T>C (p.Asp172=)
c.857T>C
c.903T>C (p.Asp301=)
c.*366T>C (n.*366T>C)
c.780T>C (p.Asp260=)
c.891T>C (p.Asp297=)
c.945T>C (p.Asp315=)
n.84T>C
n.409T>C
n.374T>C
c.834T>C (p.Asp278=)
c.519T>C (p.Asp173=)
n.1282T>C
n.1117T>C
 dbSNP gnomAD v2 gnomAD v4
3g.193637969T>GCA355788187OPA1c.1053T>G (p.Asp351Glu)
c.888T>G (p.Asp296Glu)
c.999T>G (p.Asp333Glu)
c.942T>G (p.Asp314Glu)
c.983T>G
c.570T>G (p.Asp190Glu)
c.*969T>G (n.*969T>G)
c.548T>G
c.516T>G (p.Asp172Glu)
c.857T>G
c.903T>G (p.Asp301Glu)
c.*366T>G (n.*366T>G)
c.780T>G (p.Asp260Glu)
c.891T>G (p.Asp297Glu)
c.945T>G (p.Asp315Glu)
n.84T>G
n.409T>G
n.374T>G
c.834T>G (p.Asp278Glu)
c.519T>G (p.Asp173Glu)
n.1282T>G
n.1117T>G
3g.193637969T=CA1430236626OPA1c.1053T= (p.Asp351=)
c.888T= (p.Asp296=)
c.999T= (p.Asp333=)
c.942T= (p.Asp314=)
c.983T=
c.570T= (p.Asp190=)
c.*969T= (n.*969T=)
c.548T=
c.516T= (p.Asp172=)
c.857T=
c.903T= (p.Asp301=)
c.*366T= (n.*366T=)
c.780T= (p.Asp260=)
c.891T= (p.Asp297=)
c.945T= (p.Asp315=)
n.84T=
n.409T=
n.374T=
c.834T= (p.Asp278=)
c.519T= (p.Asp173=)
n.1282T=
n.1117T=
3g.193637970C>ACA355788189OPA1c.1054C>A (p.Gln352Lys)
c.889C>A (p.Gln297Lys)
c.1000C>A (p.Gln334Lys)
c.943C>A (p.Gln315Lys)
c.984C>A
c.571C>A (p.Gln191Lys)
c.*970C>A (n.*970C>A)
c.549C>A
c.517C>A (p.Gln173Lys)
c.858C>A
c.904C>A (p.Gln302Lys)
c.*367C>A (n.*367C>A)
c.781C>A (p.Gln261Lys)
c.892C>A (p.Gln298Lys)
c.946C>A (p.Gln316Lys)
n.85C>A
n.410C>A
n.375C>A
c.835C>A (p.Gln279Lys)
c.520C>A (p.Gln174Lys)
n.1283C>A
n.1118C>A
3g.193637970C>GCA355788190OPA1c.1054C>G (p.Gln352Glu)
c.889C>G (p.Gln297Glu)
c.1000C>G (p.Gln334Glu)
c.943C>G (p.Gln315Glu)
c.984C>G
c.571C>G (p.Gln191Glu)
c.*970C>G (n.*970C>G)
c.549C>G
c.517C>G (p.Gln173Glu)
c.858C>G
c.904C>G (p.Gln302Glu)
c.*367C>G (n.*367C>G)
c.781C>G (p.Gln261Glu)
c.892C>G (p.Gln298Glu)
c.946C>G (p.Gln316Glu)
n.85C>G
n.410C>G
n.375C>G
c.835C>G (p.Gln279Glu)
c.520C>G (p.Gln174Glu)
n.1283C>G
n.1118C>G
3g.193637970C>TCA355788192OPA1c.1054C>T (p.Gln352Ter)
c.889C>T (p.Gln297Ter)
c.1000C>T (p.Gln334Ter)
c.943C>T (p.Gln315Ter)
c.984C>T
c.571C>T (p.Gln191Ter)
c.*970C>T (n.*970C>T)
c.549C>T
c.517C>T (p.Gln173Ter)
c.858C>T
c.904C>T (p.Gln302Ter)
c.*367C>T (n.*367C>T)
c.781C>T (p.Gln261Ter)
c.892C>T (p.Gln298Ter)
c.946C>T (p.Gln316Ter)
n.85C>T
n.410C>T
n.375C>T
c.835C>T (p.Gln279Ter)
c.520C>T (p.Gln174Ter)
n.1283C>T
n.1118C>T
3g.193637971A>CCA355788195OPA1c.1055A>C (p.Gln352Pro)
c.890A>C (p.Gln297Pro)
c.1001A>C (p.Gln334Pro)
c.944A>C (p.Gln315Pro)
c.985A>C
c.572A>C (p.Gln191Pro)
c.*971A>C (n.*971A>C)
c.550A>C
c.518A>C (p.Gln173Pro)
c.859A>C
c.905A>C (p.Gln302Pro)
c.*368A>C (n.*368A>C)
c.782A>C (p.Gln261Pro)
c.893A>C (p.Gln298Pro)
c.947A>C (p.Gln316Pro)
n.86A>C
n.411A>C
n.376A>C
c.836A>C (p.Gln279Pro)
c.521A>C (p.Gln174Pro)
n.1284A>C
n.1119A>C
 ClinVar dbSNP
3g.193637971A>GCA355788198OPA1c.1055A>G (p.Gln352Arg)
c.890A>G (p.Gln297Arg)
c.1001A>G (p.Gln334Arg)
c.944A>G (p.Gln315Arg)
c.985A>G
c.572A>G (p.Gln191Arg)
c.*971A>G (n.*971A>G)
c.550A>G
c.518A>G (p.Gln173Arg)
c.859A>G
c.905A>G (p.Gln302Arg)
c.*368A>G (n.*368A>G)
c.782A>G (p.Gln261Arg)
c.893A>G (p.Gln298Arg)
c.947A>G (p.Gln316Arg)
n.86A>G
n.411A>G
n.376A>G
c.836A>G (p.Gln279Arg)
c.521A>G (p.Gln174Arg)
n.1284A>G
n.1119A>G
3g.193637971A>TCA355788199OPA1c.1055A>T (p.Gln352Leu)
c.890A>T (p.Gln297Leu)
c.1001A>T (p.Gln334Leu)
c.944A>T (p.Gln315Leu)
c.985A>T
c.572A>T (p.Gln191Leu)
c.*971A>T (n.*971A>T)
c.550A>T
c.518A>T (p.Gln173Leu)
c.859A>T
c.905A>T (p.Gln302Leu)
c.*368A>T (n.*368A>T)
c.782A>T (p.Gln261Leu)
c.893A>T (p.Gln298Leu)
c.947A>T (p.Gln316Leu)
n.86A>T
n.411A>T
n.376A>T
c.836A>T (p.Gln279Leu)
c.521A>T (p.Gln174Leu)
n.1284A>T
n.1119A>T
3g.193637972G>ACA437434370OPA1c.1056G>A (p.Gln352=)
c.891G>A (p.Gln297=)
c.1002G>A (p.Gln334=)
c.945G>A (p.Gln315=)
c.986G>A
c.573G>A (p.Gln191=)
c.*972G>A (n.*972G>A)
c.551G>A
c.519G>A (p.Gln173=)
c.860G>A
c.906G>A (p.Gln302=)
c.*369G>A (n.*369G>A)
c.783G>A (p.Gln261=)
c.894G>A (p.Gln298=)
c.948G>A (p.Gln316=)
n.87G>A
n.412G>A
n.377G>A
c.837G>A (p.Gln279=)
c.522G>A (p.Gln174=)
n.1285G>A
n.1120G>A
 COSMIC
3g.193637972G>CCA355788200OPA1c.1056G>C (p.Gln352His)
c.891G>C (p.Gln297His)
c.1002G>C (p.Gln334His)
c.945G>C (p.Gln315His)
c.986G>C
c.573G>C (p.Gln191His)
c.*972G>C (n.*972G>C)
c.551G>C
c.519G>C (p.Gln173His)
c.860G>C
c.906G>C (p.Gln302His)
c.*369G>C (n.*369G>C)
c.783G>C (p.Gln261His)
c.894G>C (p.Gln298His)
c.948G>C (p.Gln316His)
n.87G>C
n.412G>C
n.377G>C
c.837G>C (p.Gln279His)
c.522G>C (p.Gln174His)
n.1285G>C
n.1120G>C
 COSMIC
3g.193637972G>TCA355788202OPA1c.1056G>T (p.Gln352His)
c.891G>T (p.Gln297His)
c.1002G>T (p.Gln334His)
c.945G>T (p.Gln315His)
c.986G>T
c.573G>T (p.Gln191His)
c.*972G>T (n.*972G>T)
c.551G>T
c.519G>T (p.Gln173His)
c.860G>T
c.906G>T (p.Gln302His)
c.*369G>T (n.*369G>T)
c.783G>T (p.Gln261His)
c.894G>T (p.Gln298His)
c.948G>T (p.Gln316His)
n.87G>T
n.412G>T
n.377G>T
c.837G>T (p.Gln279His)
c.522G>T (p.Gln174His)
n.1285G>T
n.1120G>T
3g.193637973A>CCA355788206OPA1c.1057A>C (p.Ser353Arg)
c.892A>C (p.Ser298Arg)
c.1003A>C (p.Ser335Arg)
c.946A>C (p.Ser316Arg)
c.987A>C
c.574A>C (p.Ser192Arg)
c.*973A>C (n.*973A>C)
c.552A>C
c.520A>C (p.Ser174Arg)
c.861A>C
c.907A>C (p.Ser303Arg)
c.*370A>C (n.*370A>C)
c.784A>C (p.Ser262Arg)
c.895A>C (p.Ser299Arg)
c.949A>C (p.Ser317Arg)
n.88A>C
n.413A>C
n.378A>C
c.838A>C (p.Ser280Arg)
c.523A>C (p.Ser175Arg)
n.1286A>C
n.1121A>C
3g.193637973A>GCA355788208OPA1c.1057A>G (p.Ser353Gly)
c.892A>G (p.Ser298Gly)
c.1003A>G (p.Ser335Gly)
c.946A>G (p.Ser316Gly)
c.987A>G
c.574A>G (p.Ser192Gly)
c.*973A>G (n.*973A>G)
c.552A>G
c.520A>G (p.Ser174Gly)
c.861A>G
c.907A>G (p.Ser303Gly)
c.*370A>G (n.*370A>G)
c.784A>G (p.Ser262Gly)
c.895A>G (p.Ser299Gly)
c.949A>G (p.Ser317Gly)
n.88A>G
n.413A>G
n.378A>G
c.838A>G (p.Ser280Gly)
c.523A>G (p.Ser175Gly)
n.1286A>G
n.1121A>G
 ClinVar
3g.193637973A>TCA355788205OPA1c.1057A>T (p.Ser353Cys)
c.892A>T (p.Ser298Cys)
c.1003A>T (p.Ser335Cys)
c.946A>T (p.Ser316Cys)
c.987A>T
c.574A>T (p.Ser192Cys)
c.*973A>T (n.*973A>T)
c.552A>T
c.520A>T (p.Ser174Cys)
c.861A>T
c.907A>T (p.Ser303Cys)
c.*370A>T (n.*370A>T)
c.784A>T (p.Ser262Cys)
c.895A>T (p.Ser299Cys)
c.949A>T (p.Ser317Cys)
n.88A>T
n.413A>T
n.378A>T
c.838A>T (p.Ser280Cys)
c.523A>T (p.Ser175Cys)
n.1286A>T
n.1121A>T
3g.193637974G>ACA355788210OPA1c.1058G>A (p.Ser353Asn)
c.893G>A (p.Ser298Asn)
c.1004G>A (p.Ser335Asn)
c.947G>A (p.Ser316Asn)
c.988G>A
c.575G>A (p.Ser192Asn)
c.*974G>A (n.*974G>A)
c.553G>A
c.521G>A (p.Ser174Asn)
c.862G>A
c.908G>A (p.Ser303Asn)
c.*371G>A (n.*371G>A)
c.785G>A (p.Ser262Asn)
c.896G>A (p.Ser299Asn)
c.950G>A (p.Ser317Asn)
n.89G>A
n.414G>A
n.379G>A
c.839G>A (p.Ser280Asn)
c.524G>A (p.Ser175Asn)
n.1287G>A
n.1122G>A
3g.193637974G>CCA355788216OPA1c.1058G>C (p.Ser353Thr)
c.893G>C (p.Ser298Thr)
c.1004G>C (p.Ser335Thr)
c.947G>C (p.Ser316Thr)
c.988G>C
c.575G>C (p.Ser192Thr)
c.*974G>C (n.*974G>C)
c.553G>C
c.521G>C (p.Ser174Thr)
c.862G>C
c.908G>C (p.Ser303Thr)
c.*371G>C (n.*371G>C)
c.785G>C (p.Ser262Thr)
c.896G>C (p.Ser299Thr)
c.950G>C (p.Ser317Thr)
n.89G>C
n.414G>C
n.379G>C
c.839G>C (p.Ser280Thr)
c.524G>C (p.Ser175Thr)
n.1287G>C
n.1122G>C
3g.193637974G>TCA355788219OPA1c.1058G>T (p.Ser353Ile)
c.893G>T (p.Ser298Ile)
c.1004G>T (p.Ser335Ile)
c.947G>T (p.Ser316Ile)
c.988G>T
c.575G>T (p.Ser192Ile)
c.*974G>T (n.*974G>T)
c.553G>T
c.521G>T (p.Ser174Ile)
c.862G>T
c.908G>T (p.Ser303Ile)
c.*371G>T (n.*371G>T)
c.785G>T (p.Ser262Ile)
c.896G>T (p.Ser299Ile)
c.950G>T (p.Ser317Ile)
n.89G>T
n.414G>T
n.379G>T
c.839G>T (p.Ser280Ile)
c.524G>T (p.Ser175Ile)
n.1287G>T
n.1122G>T
3g.193637975T>ACA355788225OPA1c.1059T>A (p.Ser353Arg)
c.894T>A (p.Ser298Arg)
c.1005T>A (p.Ser335Arg)
c.948T>A (p.Ser316Arg)
c.989T>A
c.576T>A (p.Ser192Arg)
c.*975T>A (n.*975T>A)
c.554T>A
c.522T>A (p.Ser174Arg)
c.863T>A
c.909T>A (p.Ser303Arg)
c.*372T>A (n.*372T>A)
c.786T>A (p.Ser262Arg)
c.897T>A (p.Ser299Arg)
c.951T>A (p.Ser317Arg)
n.90T>A
n.415T>A
n.380T>A
c.840T>A (p.Ser280Arg)
c.525T>A (p.Ser175Arg)
n.1288T>A
n.1123T>A
3g.193637975T>CCA437434376OPA1c.1059T>C (p.Ser353=)
c.894T>C (p.Ser298=)
c.1005T>C (p.Ser335=)
c.948T>C (p.Ser316=)
c.989T>C
c.576T>C (p.Ser192=)
c.*975T>C (n.*975T>C)
c.554T>C
c.522T>C (p.Ser174=)
c.863T>C
c.909T>C (p.Ser303=)
c.*372T>C (n.*372T>C)
c.786T>C (p.Ser262=)
c.897T>C (p.Ser299=)
c.951T>C (p.Ser317=)
n.90T>C
n.415T>C
n.380T>C
c.840T>C (p.Ser280=)
c.525T>C (p.Ser175=)
n.1288T>C
n.1123T>C
3g.193637975T>GCA355788226OPA1c.1059T>G (p.Ser353Arg)
c.894T>G (p.Ser298Arg)
c.1005T>G (p.Ser335Arg)
c.948T>G (p.Ser316Arg)
c.989T>G
c.576T>G (p.Ser192Arg)
c.*975T>G (n.*975T>G)
c.554T>G
c.522T>G (p.Ser174Arg)
c.863T>G
c.909T>G (p.Ser303Arg)
c.*372T>G (n.*372T>G)
c.786T>G (p.Ser262Arg)
c.897T>G (p.Ser299Arg)
c.951T>G (p.Ser317Arg)
n.90T>G
n.415T>G
n.380T>G
c.840T>G (p.Ser280Arg)
c.525T>G (p.Ser175Arg)
n.1288T>G
n.1123T>G
3g.193637976G>ACA355788228OPA1c.1060G>A (p.Ala354Thr)
c.895G>A (p.Ala299Thr)
c.1006G>A (p.Ala336Thr)
c.949G>A (p.Ala317Thr)
c.990G>A
c.577G>A (p.Ala193Thr)
c.*976G>A (n.*976G>A)
c.555G>A
c.523G>A (p.Ala175Thr)
c.864G>A
c.910G>A (p.Ala304Thr)
c.*373G>A (n.*373G>A)
c.787G>A (p.Ala263Thr)
c.898G>A (p.Ala300Thr)
c.952G>A (p.Ala318Thr)
n.91G>A
n.416G>A
n.381G>A
c.841G>A (p.Ala281Thr)
c.526G>A (p.Ala176Thr)
n.1289G>A
n.1124G>A
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched