| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.193642817G>A | CA355788891 | OPA1 | c.1202G>A (p.Arg401Gln) c.1037G>A (p.Arg346Gln) c.1148G>A (p.Arg383Gln) c.1091G>A (p.Arg364Gln) c.1080-556G>A c.719G>A (p.Arg240Gln) c.*1118G>A (n.*1118G>A) c.697G>A c.665G>A (p.Arg222Gln) c.1006G>A c.1052G>A (p.Arg351Gln) c.*515G>A (n.*515G>A) c.100G>A c.929G>A (p.Arg310Gln) c.1040G>A (p.Arg347Gln) c.1094G>A (p.Arg365Gln) n.233G>A n.523G>A c.983G>A (p.Arg328Gln) c.668G>A (p.Arg223Gln) n.1431G>A n.1266G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.193642817G>C | CA355788892 | OPA1 | c.1202G>C (p.Arg401Pro) c.1037G>C (p.Arg346Pro) c.1148G>C (p.Arg383Pro) c.1091G>C (p.Arg364Pro) c.1080-556G>C c.719G>C (p.Arg240Pro) c.*1118G>C (n.*1118G>C) c.697G>C c.665G>C (p.Arg222Pro) c.1006G>C c.1052G>C (p.Arg351Pro) c.*515G>C (n.*515G>C) c.100G>C c.929G>C (p.Arg310Pro) c.1040G>C (p.Arg347Pro) c.1094G>C (p.Arg365Pro) n.233G>C n.523G>C c.983G>C (p.Arg328Pro) c.668G>C (p.Arg223Pro) n.1431G>C n.1266G>C | |
| 3 | g.193642817G= | CA1430243656 | OPA1 | c.1202G= (p.Arg401=) c.1037G= (p.Arg346=) c.1148G= (p.Arg383=) c.1091G= (p.Arg364=) c.1080-556G= c.719G= (p.Arg240=) c.*1118G= (n.*1118G=) c.697G= c.665G= (p.Arg222=) c.1006G= c.1052G= (p.Arg351=) c.*515G= (n.*515G=) c.100G= c.929G= (p.Arg310=) c.1040G= (p.Arg347=) c.1094G= (p.Arg365=) n.233G= n.523G= c.983G= (p.Arg328=) c.668G= (p.Arg223=) n.1431G= n.1266G= | |
| 3 | g.193642817G>T | CA355788890 | OPA1 | c.1202G>T (p.Arg401Leu) c.1037G>T (p.Arg346Leu) c.1148G>T (p.Arg383Leu) c.1091G>T (p.Arg364Leu) c.1080-556G>T c.719G>T (p.Arg240Leu) c.*1118G>T (n.*1118G>T) c.697G>T c.665G>T (p.Arg222Leu) c.1006G>T c.1052G>T (p.Arg351Leu) c.*515G>T (n.*515G>T) c.100G>T c.929G>T (p.Arg310Leu) c.1040G>T (p.Arg347Leu) c.1094G>T (p.Arg365Leu) n.233G>T n.523G>T c.983G>T (p.Arg328Leu) c.668G>T (p.Arg223Leu) n.1431G>T n.1266G>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.193642818G>A | CA437435561 | OPA1 | c.1203G>A (p.Arg401=) c.1038G>A (p.Arg346=) c.1149G>A (p.Arg383=) c.1092G>A (p.Arg364=) c.1080-555G>A c.720G>A (p.Arg240=) c.*1119G>A (n.*1119G>A) c.698G>A c.666G>A (p.Arg222=) c.1007G>A c.1053G>A (p.Arg351=) c.*516G>A (n.*516G>A) c.101G>A c.930G>A (p.Arg310=) c.1041G>A (p.Arg347=) c.1095G>A (p.Arg365=) n.234G>A n.524G>A c.984G>A (p.Arg328=) c.669G>A (p.Arg223=) n.1432G>A n.1267G>A | |
| 3 | g.193642818G>C | CA437435562 | OPA1 | c.1203G>C (p.Arg401=) c.1038G>C (p.Arg346=) c.1149G>C (p.Arg383=) c.1092G>C (p.Arg364=) c.1080-555G>C c.720G>C (p.Arg240=) c.*1119G>C (n.*1119G>C) c.698G>C c.666G>C (p.Arg222=) c.1007G>C c.1053G>C (p.Arg351=) c.*516G>C (n.*516G>C) c.101G>C c.930G>C (p.Arg310=) c.1041G>C (p.Arg347=) c.1095G>C (p.Arg365=) n.234G>C n.524G>C c.984G>C (p.Arg328=) c.669G>C (p.Arg223=) n.1432G>C n.1267G>C | ClinVar gnomAD v4 |
| 3 | g.193642818G>T | CA437435564 | OPA1 | c.1203G>T (p.Arg401=) c.1038G>T (p.Arg346=) c.1149G>T (p.Arg383=) c.1092G>T (p.Arg364=) c.1080-555G>T c.720G>T (p.Arg240=) c.*1119G>T (n.*1119G>T) c.698G>T c.666G>T (p.Arg222=) c.1007G>T c.1053G>T (p.Arg351=) c.*516G>T (n.*516G>T) c.101G>T c.930G>T (p.Arg310=) c.1041G>T (p.Arg347=) c.1095G>T (p.Arg365=) n.234G>T n.524G>T c.984G>T (p.Arg328=) c.669G>T (p.Arg223=) n.1432G>T n.1267G>T | |
| 3 | g.193642819G>A | CA355788894 | OPA1 | c.1204G>A (p.Glu402Lys) c.1039G>A (p.Glu347Lys) c.1150G>A (p.Glu384Lys) c.1093G>A (p.Glu365Lys) c.1080-554G>A c.721G>A (p.Glu241Lys) c.*1120G>A (n.*1120G>A) c.699G>A c.667G>A (p.Glu223Lys) c.1008G>A c.1054G>A (p.Glu352Lys) c.*517G>A (n.*517G>A) c.102G>A c.931G>A (p.Glu311Lys) c.1042G>A (p.Glu348Lys) c.1096G>A (p.Glu366Lys) n.235G>A n.525G>A c.985G>A (p.Glu329Lys) c.670G>A (p.Glu224Lys) n.1433G>A n.1268G>A | |
| 3 | g.193642819G>C | CA355788893 | OPA1 | c.1204G>C (p.Glu402Gln) c.1039G>C (p.Glu347Gln) c.1150G>C (p.Glu384Gln) c.1093G>C (p.Glu365Gln) c.1080-554G>C c.721G>C (p.Glu241Gln) c.*1120G>C (n.*1120G>C) c.699G>C c.667G>C (p.Glu223Gln) c.1008G>C c.1054G>C (p.Glu352Gln) c.*517G>C (n.*517G>C) c.102G>C c.931G>C (p.Glu311Gln) c.1042G>C (p.Glu348Gln) c.1096G>C (p.Glu366Gln) n.235G>C n.525G>C c.985G>C (p.Glu329Gln) c.670G>C (p.Glu224Gln) n.1433G>C n.1268G>C | |
| 3 | g.193642819G>T | CA355788895 | OPA1 | c.1204G>T (p.Glu402Ter) c.1039G>T (p.Glu347Ter) c.1150G>T (p.Glu384Ter) c.1093G>T (p.Glu365Ter) c.1080-554G>T c.721G>T (p.Glu241Ter) c.*1120G>T (n.*1120G>T) c.699G>T c.667G>T (p.Glu223Ter) c.1008G>T c.1054G>T (p.Glu352Ter) c.*517G>T (n.*517G>T) c.102G>T c.931G>T (p.Glu311Ter) c.1042G>T (p.Glu348Ter) c.1096G>T (p.Glu366Ter) n.235G>T n.525G>T c.985G>T (p.Glu329Ter) c.670G>T (p.Glu224Ter) n.1433G>T n.1268G>T | gnomAD v4 |
| 3 | g.193642820A>C | CA355788896 | OPA1 | c.1205A>C (p.Glu402Ala) c.1040A>C (p.Glu347Ala) c.1151A>C (p.Glu384Ala) c.1094A>C (p.Glu365Ala) c.1080-553A>C c.722A>C (p.Glu241Ala) c.*1121A>C (n.*1121A>C) c.700A>C c.668A>C (p.Glu223Ala) c.1009A>C c.1055A>C (p.Glu352Ala) c.*518A>C (n.*518A>C) c.103A>C c.932A>C (p.Glu311Ala) c.1043A>C (p.Glu348Ala) c.1097A>C (p.Glu366Ala) n.236A>C n.526A>C c.986A>C (p.Glu329Ala) c.671A>C (p.Glu224Ala) n.1434A>C n.1269A>C | |
| 3 | g.193642820A>G | CA355788898 | OPA1 | c.1205A>G (p.Glu402Gly) c.1040A>G (p.Glu347Gly) c.1151A>G (p.Glu384Gly) c.1094A>G (p.Glu365Gly) c.1080-553A>G c.722A>G (p.Glu241Gly) c.*1121A>G (n.*1121A>G) c.700A>G c.668A>G (p.Glu223Gly) c.1009A>G c.1055A>G (p.Glu352Gly) c.*518A>G (n.*518A>G) c.103A>G c.932A>G (p.Glu311Gly) c.1043A>G (p.Glu348Gly) c.1097A>G (p.Glu366Gly) n.236A>G n.526A>G c.986A>G (p.Glu329Gly) c.671A>G (p.Glu224Gly) n.1434A>G n.1269A>G | |
| 3 | g.193642820A>T | CA355788897 | OPA1 | c.1205A>T (p.Glu402Val) c.1040A>T (p.Glu347Val) c.1151A>T (p.Glu384Val) c.1094A>T (p.Glu365Val) c.1080-553A>T c.722A>T (p.Glu241Val) c.*1121A>T (n.*1121A>T) c.700A>T c.668A>T (p.Glu223Val) c.1009A>T c.1055A>T (p.Glu352Val) c.*518A>T (n.*518A>T) c.103A>T c.932A>T (p.Glu311Val) c.1043A>T (p.Glu348Val) c.1097A>T (p.Glu366Val) n.236A>T n.526A>T c.986A>T (p.Glu329Val) c.671A>T (p.Glu224Val) n.1434A>T n.1269A>T | |
| 3 | g.193642821G>A | CA437435575 | OPA1 | c.1206G>A (p.Glu402=) c.1041G>A (p.Glu347=) c.1152G>A (p.Glu384=) c.1095G>A (p.Glu365=) c.1080-552G>A c.723G>A (p.Glu241=) c.*1122G>A (n.*1122G>A) c.701G>A c.669G>A (p.Glu223=) c.1010G>A c.1056G>A (p.Glu352=) c.*519G>A (n.*519G>A) c.104G>A c.933G>A (p.Glu311=) c.1044G>A (p.Glu348=) c.1098G>A (p.Glu366=) n.237G>A n.527G>A c.987G>A (p.Glu329=) c.672G>A (p.Glu224=) n.1435G>A n.1270G>A | |
| 3 | g.193642821G>C | CA355788899 | OPA1 | c.1206G>C (p.Glu402Asp) c.1041G>C (p.Glu347Asp) c.1152G>C (p.Glu384Asp) c.1095G>C (p.Glu365Asp) c.1080-552G>C c.723G>C (p.Glu241Asp) c.*1122G>C (n.*1122G>C) c.701G>C c.669G>C (p.Glu223Asp) c.1010G>C c.1056G>C (p.Glu352Asp) c.*519G>C (n.*519G>C) c.104G>C c.933G>C (p.Glu311Asp) c.1044G>C (p.Glu348Asp) c.1098G>C (p.Glu366Asp) n.237G>C n.527G>C c.987G>C (p.Glu329Asp) c.672G>C (p.Glu224Asp) n.1435G>C n.1270G>C | |
| 3 | g.193642821G>T | CA355788900 | OPA1 | c.1206G>T (p.Glu402Asp) c.1041G>T (p.Glu347Asp) c.1152G>T (p.Glu384Asp) c.1095G>T (p.Glu365Asp) c.1080-552G>T c.723G>T (p.Glu241Asp) c.*1122G>T (n.*1122G>T) c.701G>T c.669G>T (p.Glu223Asp) c.1010G>T c.1056G>T (p.Glu352Asp) c.*519G>T (n.*519G>T) c.104G>T c.933G>T (p.Glu311Asp) c.1044G>T (p.Glu348Asp) c.1098G>T (p.Glu366Asp) n.237G>T n.527G>T c.987G>T (p.Glu329Asp) c.672G>T (p.Glu224Asp) n.1435G>T n.1270G>T | |
| 3 | g.193642822T>A | CA355788901 | OPA1 | c.1207T>A (p.Phe403Ile) c.1042T>A (p.Phe348Ile) c.1153T>A (p.Phe385Ile) c.1096T>A (p.Phe366Ile) c.1080-551T>A c.724T>A (p.Phe242Ile) c.*1123T>A (n.*1123T>A) c.702T>A c.670T>A (p.Phe224Ile) c.1011T>A c.1057T>A (p.Phe353Ile) c.*520T>A (n.*520T>A) c.105T>A c.934T>A (p.Phe312Ile) c.1045T>A (p.Phe349Ile) c.1099T>A (p.Phe367Ile) n.238T>A n.528T>A c.988T>A (p.Phe330Ile) c.673T>A (p.Phe225Ile) n.1436T>A n.1271T>A | |
| 3 | g.193642822T>C | CA355788902 | OPA1 | c.1207T>C (p.Phe403Leu) c.1042T>C (p.Phe348Leu) c.1153T>C (p.Phe385Leu) c.1096T>C (p.Phe366Leu) c.1080-551T>C c.724T>C (p.Phe242Leu) c.*1123T>C (n.*1123T>C) c.702T>C c.670T>C (p.Phe224Leu) c.1011T>C c.1057T>C (p.Phe353Leu) c.*520T>C (n.*520T>C) c.105T>C c.934T>C (p.Phe312Leu) c.1045T>C (p.Phe349Leu) c.1099T>C (p.Phe367Leu) n.238T>C n.528T>C c.988T>C (p.Phe330Leu) c.673T>C (p.Phe225Leu) n.1436T>C n.1271T>C | |
| 3 | g.193642822T>G | CA355788903 | OPA1 | c.1207T>G (p.Phe403Val) c.1042T>G (p.Phe348Val) c.1153T>G (p.Phe385Val) c.1096T>G (p.Phe366Val) c.1080-551T>G c.724T>G (p.Phe242Val) c.*1123T>G (n.*1123T>G) c.702T>G c.670T>G (p.Phe224Val) c.1011T>G c.1057T>G (p.Phe353Val) c.*520T>G (n.*520T>G) c.105T>G c.934T>G (p.Phe312Val) c.1045T>G (p.Phe349Val) c.1099T>G (p.Phe367Val) n.238T>G n.528T>G c.988T>G (p.Phe330Val) c.673T>G (p.Phe225Val) n.1436T>G n.1271T>G | |
| 3 | g.193642823T>A | CA355788904 | OPA1 | c.1208T>A (p.Phe403Tyr) c.1043T>A (p.Phe348Tyr) c.1154T>A (p.Phe385Tyr) c.1097T>A (p.Phe366Tyr) c.1080-550T>A c.725T>A (p.Phe242Tyr) c.*1124T>A (n.*1124T>A) c.703T>A c.671T>A (p.Phe224Tyr) c.1012T>A c.1058T>A (p.Phe353Tyr) c.*521T>A (n.*521T>A) c.106T>A c.935T>A (p.Phe312Tyr) c.1046T>A (p.Phe349Tyr) c.1100T>A (p.Phe367Tyr) n.239T>A n.529T>A c.989T>A (p.Phe330Tyr) c.674T>A (p.Phe225Tyr) n.1437T>A n.1272T>A | |
| 3 | g.193642823T>C | CA355788905 | OPA1 | c.1208T>C (p.Phe403Ser) c.1043T>C (p.Phe348Ser) c.1154T>C (p.Phe385Ser) c.1097T>C (p.Phe366Ser) c.1080-550T>C c.725T>C (p.Phe242Ser) c.*1124T>C (n.*1124T>C) c.703T>C c.671T>C (p.Phe224Ser) c.1012T>C c.1058T>C (p.Phe353Ser) c.*521T>C (n.*521T>C) c.106T>C c.935T>C (p.Phe312Ser) c.1046T>C (p.Phe349Ser) c.1100T>C (p.Phe367Ser) n.239T>C n.529T>C c.989T>C (p.Phe330Ser) c.674T>C (p.Phe225Ser) n.1437T>C n.1272T>C | dbSNP gnomAD v4 |
| 3 | g.193642823T>G | CA355788906 | OPA1 | c.1208T>G (p.Phe403Cys) c.1043T>G (p.Phe348Cys) c.1154T>G (p.Phe385Cys) c.1097T>G (p.Phe366Cys) c.1080-550T>G c.725T>G (p.Phe242Cys) c.*1124T>G (n.*1124T>G) c.703T>G c.671T>G (p.Phe224Cys) c.1012T>G c.1058T>G (p.Phe353Cys) c.*521T>G (n.*521T>G) c.106T>G c.935T>G (p.Phe312Cys) c.1046T>G (p.Phe349Cys) c.1100T>G (p.Phe367Cys) n.239T>G n.529T>G c.989T>G (p.Phe330Cys) c.674T>G (p.Phe225Cys) n.1437T>G n.1272T>G | |
| 3 | g.193642823T= | CA1430243662 | OPA1 | c.1208T= (p.Phe403=) c.1043T= (p.Phe348=) c.1154T= (p.Phe385=) c.1097T= (p.Phe366=) c.1080-550T= c.725T= (p.Phe242=) c.*1124T= (n.*1124T=) c.703T= c.671T= (p.Phe224=) c.1012T= c.1058T= (p.Phe353=) c.*521T= (n.*521T=) c.106T= c.935T= (p.Phe312=) c.1046T= (p.Phe349=) c.1100T= (p.Phe367=) n.239T= n.529T= c.989T= (p.Phe330=) c.674T= (p.Phe225=) n.1437T= n.1272T= | |
| 3 | g.193642824T>A | CA355788907 | OPA1 | c.1209T>A (p.Phe403Leu) c.1044T>A (p.Phe348Leu) c.1155T>A (p.Phe385Leu) c.1098T>A (p.Phe366Leu) c.1080-549T>A c.726T>A (p.Phe242Leu) c.*1125T>A (n.*1125T>A) c.704T>A c.672T>A (p.Phe224Leu) c.1013T>A c.1059T>A (p.Phe353Leu) c.*522T>A (n.*522T>A) c.107T>A c.936T>A (p.Phe312Leu) c.1047T>A (p.Phe349Leu) c.1101T>A (p.Phe367Leu) n.240T>A n.530T>A c.990T>A (p.Phe330Leu) c.675T>A (p.Phe225Leu) n.1438T>A n.1273T>A | |
| 3 | g.193642824T>C | CA437435585 | OPA1 | c.1209T>C (p.Phe403=) c.1044T>C (p.Phe348=) c.1155T>C (p.Phe385=) c.1098T>C (p.Phe366=) c.1080-549T>C c.726T>C (p.Phe242=) c.*1125T>C (n.*1125T>C) c.704T>C c.672T>C (p.Phe224=) c.1013T>C c.1059T>C (p.Phe353=) c.*522T>C (n.*522T>C) c.107T>C c.936T>C (p.Phe312=) c.1047T>C (p.Phe349=) c.1101T>C (p.Phe367=) n.240T>C n.530T>C c.990T>C (p.Phe330=) c.675T>C (p.Phe225=) n.1438T>C n.1273T>C | |
| 3 | g.193642824T>G | CA355788908 | OPA1 | c.1209T>G (p.Phe403Leu) c.1044T>G (p.Phe348Leu) c.1155T>G (p.Phe385Leu) c.1098T>G (p.Phe366Leu) c.1080-549T>G c.726T>G (p.Phe242Leu) c.*1125T>G (n.*1125T>G) c.704T>G c.672T>G (p.Phe224Leu) c.1013T>G c.1059T>G (p.Phe353Leu) c.*522T>G (n.*522T>G) c.107T>G c.936T>G (p.Phe312Leu) c.1047T>G (p.Phe349Leu) c.1101T>G (p.Phe367Leu) n.240T>G n.530T>G c.990T>G (p.Phe330Leu) c.675T>G (p.Phe225Leu) n.1438T>G n.1273T>G | |
| 3 | g.193642825G>A | CA355788911 | OPA1 | c.1210G>A (p.Asp404Asn) c.1045G>A (p.Asp349Asn) c.1156G>A (p.Asp386Asn) c.1099G>A (p.Asp367Asn) c.1080-548G>A c.727G>A (p.Asp243Asn) c.*1126G>A (n.*1126G>A) c.705G>A c.673G>A (p.Asp225Asn) c.1014G>A c.1060G>A (p.Asp354Asn) c.*523G>A (n.*523G>A) c.108G>A c.937G>A (p.Asp313Asn) c.1048G>A (p.Asp350Asn) c.1102G>A (p.Asp368Asn) n.241G>A n.531G>A c.991G>A (p.Asp331Asn) c.676G>A (p.Asp226Asn) n.1439G>A n.1274G>A | gnomAD v4 |
| 3 | g.193642825G>C | CA355788910 | OPA1 | c.1210G>C (p.Asp404His) c.1045G>C (p.Asp349His) c.1156G>C (p.Asp386His) c.1099G>C (p.Asp367His) c.1080-548G>C c.727G>C (p.Asp243His) c.*1126G>C (n.*1126G>C) c.705G>C c.673G>C (p.Asp225His) c.1014G>C c.1060G>C (p.Asp354His) c.*523G>C (n.*523G>C) c.108G>C c.937G>C (p.Asp313His) c.1048G>C (p.Asp350His) c.1102G>C (p.Asp368His) n.241G>C n.531G>C c.991G>C (p.Asp331His) c.676G>C (p.Asp226His) n.1439G>C n.1274G>C | |
| 3 | g.193642825G>T | CA355788909 | OPA1 | c.1210G>T (p.Asp404Tyr) c.1045G>T (p.Asp349Tyr) c.1156G>T (p.Asp386Tyr) c.1099G>T (p.Asp367Tyr) c.1080-548G>T c.727G>T (p.Asp243Tyr) c.*1126G>T (n.*1126G>T) c.705G>T c.673G>T (p.Asp225Tyr) c.1014G>T c.1060G>T (p.Asp354Tyr) c.*523G>T (n.*523G>T) c.108G>T c.937G>T (p.Asp313Tyr) c.1048G>T (p.Asp350Tyr) c.1102G>T (p.Asp368Tyr) n.241G>T n.531G>T c.991G>T (p.Asp331Tyr) c.676G>T (p.Asp226Tyr) n.1439G>T n.1274G>T | gnomAD v4 |
| 3 | g.193642826A>C | CA355788912 | OPA1 | c.1211A>C (p.Asp404Ala) c.1046A>C (p.Asp349Ala) c.1157A>C (p.Asp386Ala) c.1100A>C (p.Asp367Ala) c.1080-547A>C c.728A>C (p.Asp243Ala) c.*1127A>C (n.*1127A>C) c.706A>C c.674A>C (p.Asp225Ala) c.1015A>C c.1061A>C (p.Asp354Ala) c.*524A>C (n.*524A>C) c.109A>C c.938A>C (p.Asp313Ala) c.1049A>C (p.Asp350Ala) c.1103A>C (p.Asp368Ala) n.242A>C n.532A>C c.992A>C (p.Asp331Ala) c.677A>C (p.Asp226Ala) n.1440A>C n.1275A>C | |
| 3 | g.193642826A>G | CA355788913 | OPA1 | c.1211A>G (p.Asp404Gly) c.1046A>G (p.Asp349Gly) c.1157A>G (p.Asp386Gly) c.1100A>G (p.Asp367Gly) c.1080-547A>G c.728A>G (p.Asp243Gly) c.*1127A>G (n.*1127A>G) c.706A>G c.674A>G (p.Asp225Gly) c.1015A>G c.1061A>G (p.Asp354Gly) c.*524A>G (n.*524A>G) c.109A>G c.938A>G (p.Asp313Gly) c.1049A>G (p.Asp350Gly) c.1103A>G (p.Asp368Gly) n.242A>G n.532A>G c.992A>G (p.Asp331Gly) c.677A>G (p.Asp226Gly) n.1440A>G n.1275A>G | |
| 3 | g.193642826A>T | CA355788914 | OPA1 | c.1211A>T (p.Asp404Val) c.1046A>T (p.Asp349Val) c.1157A>T (p.Asp386Val) c.1100A>T (p.Asp367Val) c.1080-547A>T c.728A>T (p.Asp243Val) c.*1127A>T (n.*1127A>T) c.706A>T c.674A>T (p.Asp225Val) c.1015A>T c.1061A>T (p.Asp354Val) c.*524A>T (n.*524A>T) c.109A>T c.938A>T (p.Asp313Val) c.1049A>T (p.Asp350Val) c.1103A>T (p.Asp368Val) n.242A>T n.532A>T c.992A>T (p.Asp331Val) c.677A>T (p.Asp226Val) n.1440A>T n.1275A>T | COSMIC |
| 3 | g.193642827T>A | CA355788915 | OPA1 | c.1212T>A (p.Asp404Glu) c.1047T>A (p.Asp349Glu) c.1158T>A (p.Asp386Glu) c.1101T>A (p.Asp367Glu) c.1080-546T>A c.729T>A (p.Asp243Glu) c.*1128T>A (n.*1128T>A) c.707T>A c.675T>A (p.Asp225Glu) c.1016T>A c.1062T>A (p.Asp354Glu) c.*525T>A (n.*525T>A) c.110T>A c.939T>A (p.Asp313Glu) c.1050T>A (p.Asp350Glu) c.1104T>A (p.Asp368Glu) n.243T>A n.533T>A c.993T>A (p.Asp331Glu) c.678T>A (p.Asp226Glu) n.1441T>A n.1276T>A | |
| 3 | g.193642827T>C | CA437435594 | OPA1 | c.1212T>C (p.Asp404=) c.1047T>C (p.Asp349=) c.1158T>C (p.Asp386=) c.1101T>C (p.Asp367=) c.1080-546T>C c.729T>C (p.Asp243=) c.*1128T>C (n.*1128T>C) c.707T>C c.675T>C (p.Asp225=) c.1016T>C c.1062T>C (p.Asp354=) c.*525T>C (n.*525T>C) c.110T>C c.939T>C (p.Asp313=) c.1050T>C (p.Asp350=) c.1104T>C (p.Asp368=) n.243T>C n.533T>C c.993T>C (p.Asp331=) c.678T>C (p.Asp226=) n.1441T>C n.1276T>C | |
| 3 | g.193642827T>G | CA355788916 | OPA1 | c.1212T>G (p.Asp404Glu) c.1047T>G (p.Asp349Glu) c.1158T>G (p.Asp386Glu) c.1101T>G (p.Asp367Glu) c.1080-546T>G c.729T>G (p.Asp243Glu) c.*1128T>G (n.*1128T>G) c.707T>G c.675T>G (p.Asp225Glu) c.1016T>G c.1062T>G (p.Asp354Glu) c.*525T>G (n.*525T>G) c.110T>G c.939T>G (p.Asp313Glu) c.1050T>G (p.Asp350Glu) c.1104T>G (p.Asp368Glu) n.243T>G n.533T>G c.993T>G (p.Asp331Glu) c.678T>G (p.Asp226Glu) n.1441T>G n.1276T>G | |
| 3 | g.193642828C>A | CA355788917 | OPA1 | c.1213C>A (p.Leu405Ile) c.1048C>A (p.Leu350Ile) c.1159C>A (p.Leu387Ile) c.1102C>A (p.Leu368Ile) c.1080-545C>A c.730C>A (p.Leu244Ile) c.*1129C>A (n.*1129C>A) c.708C>A c.676C>A (p.Leu226Ile) c.1017C>A c.1063C>A (p.Leu355Ile) c.*526C>A (n.*526C>A) c.111C>A c.940C>A (p.Leu314Ile) c.1051C>A (p.Leu351Ile) c.1105C>A (p.Leu369Ile) n.244C>A n.534C>A c.994C>A (p.Leu332Ile) c.679C>A (p.Leu227Ile) n.1442C>A n.1277C>A | |
| 3 | g.193642828C= | CA1430243666 | OPA1 | c.1213C= (p.Leu405=) c.1048C= (p.Leu350=) c.1159C= (p.Leu387=) c.1102C= (p.Leu368=) c.1080-545C= c.730C= (p.Leu244=) c.*1129C= (n.*1129C=) c.708C= c.676C= (p.Leu226=) c.1017C= c.1063C= (p.Leu355=) c.*526C= (n.*526C=) c.111C= c.940C= (p.Leu314=) c.1051C= (p.Leu351=) c.1105C= (p.Leu369=) n.244C= n.534C= c.994C= (p.Leu332=) c.679C= (p.Leu227=) n.1442C= n.1277C= | |
| 3 | g.193642828C>G | CA2759298 | OPA1 | c.1213C>G (p.Leu405Val) c.1048C>G (p.Leu350Val) c.1159C>G (p.Leu387Val) c.1102C>G (p.Leu368Val) c.1080-545C>G c.730C>G (p.Leu244Val) c.*1129C>G (n.*1129C>G) c.708C>G c.676C>G (p.Leu226Val) c.1017C>G c.1063C>G (p.Leu355Val) c.*526C>G (n.*526C>G) c.111C>G c.940C>G (p.Leu314Val) c.1051C>G (p.Leu351Val) c.1105C>G (p.Leu369Val) n.244C>G n.534C>G c.994C>G (p.Leu332Val) c.679C>G (p.Leu227Val) n.1442C>G n.1277C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.193642828C>T | CA355788918 | OPA1 | c.1213C>T (p.Leu405Phe) c.1048C>T (p.Leu350Phe) c.1159C>T (p.Leu387Phe) c.1102C>T (p.Leu368Phe) c.1080-545C>T c.730C>T (p.Leu244Phe) c.*1129C>T (n.*1129C>T) c.708C>T c.676C>T (p.Leu226Phe) c.1017C>T c.1063C>T (p.Leu355Phe) c.*526C>T (n.*526C>T) c.111C>T c.940C>T (p.Leu314Phe) c.1051C>T (p.Leu351Phe) c.1105C>T (p.Leu369Phe) n.244C>T n.534C>T c.994C>T (p.Leu332Phe) c.679C>T (p.Leu227Phe) n.1442C>T n.1277C>T | |
| 3 | g.193642829T>A | CA355788919 | OPA1 | c.1214T>A (p.Leu405His) c.1049T>A (p.Leu350His) c.1160T>A (p.Leu387His) c.1103T>A (p.Leu368His) c.1080-544T>A c.731T>A (p.Leu244His) c.*1130T>A (n.*1130T>A) c.709T>A c.677T>A (p.Leu226His) c.1018T>A c.1064T>A (p.Leu355His) c.*527T>A (n.*527T>A) c.112T>A c.941T>A (p.Leu314His) c.1052T>A (p.Leu351His) c.1106T>A (p.Leu369His) n.245T>A n.535T>A c.995T>A (p.Leu332His) c.680T>A (p.Leu227His) n.1443T>A n.1278T>A | |
| 3 | g.193642829T>C | CA355788920 | OPA1 | c.1214T>C (p.Leu405Pro) c.1049T>C (p.Leu350Pro) c.1160T>C (p.Leu387Pro) c.1103T>C (p.Leu368Pro) c.1080-544T>C c.731T>C (p.Leu244Pro) c.*1130T>C (n.*1130T>C) c.709T>C c.677T>C (p.Leu226Pro) c.1018T>C c.1064T>C (p.Leu355Pro) c.*527T>C (n.*527T>C) c.112T>C c.941T>C (p.Leu314Pro) c.1052T>C (p.Leu351Pro) c.1106T>C (p.Leu369Pro) n.245T>C n.535T>C c.995T>C (p.Leu332Pro) c.680T>C (p.Leu227Pro) n.1443T>C n.1278T>C | |
| 3 | g.193642829T>G | CA355788921 | OPA1 | c.1214T>G (p.Leu405Arg) c.1049T>G (p.Leu350Arg) c.1160T>G (p.Leu387Arg) c.1103T>G (p.Leu368Arg) c.1080-544T>G c.731T>G (p.Leu244Arg) c.*1130T>G (n.*1130T>G) c.709T>G c.677T>G (p.Leu226Arg) c.1018T>G c.1064T>G (p.Leu355Arg) c.*527T>G (n.*527T>G) c.112T>G c.941T>G (p.Leu314Arg) c.1052T>G (p.Leu351Arg) c.1106T>G (p.Leu369Arg) n.245T>G n.535T>G c.995T>G (p.Leu332Arg) c.680T>G (p.Leu227Arg) n.1443T>G n.1278T>G | |
| 3 | g.193642829_193642830dup | CA2573136852 | OPA1 | c.1214_1215dup (p.Thr406LeufsTer10) c.1049_1050dup (p.Thr351LeufsTer10) c.1160_1161dup (p.Thr388LeufsTer10) c.1103_1104dup (p.Thr369LeufsTer10) c.1080-544_1080-543dup c.731_732dup (p.Thr245LeufsTer10) c.*1130_*1131dup (n.*1130_*1131dup) c.709_710dup c.677_678dup (p.Thr227LeufsTer10) c.1018_1019dup c.1064_1065dup (p.Thr356LeufsTer10) c.*527_*528dup (n.*527_*528dup) c.112_113dup c.941_942dup (p.Thr315LeufsTer10) c.1052_1053dup (p.Thr352LeufsTer10) c.1106_1107dup (p.Thr370LeufsTer10) n.245_246dup n.535_536dup c.995_996dup (p.Thr333LeufsTer10) c.680_681dup (p.Thr228LeufsTer10) n.1443_1444dup n.1278_1279dup | ClinVar dbSNP |
| 3 | g.193642830del | CA2577995010 | OPA1 | c.1215del (p.Thr406ProfsTer9) c.1050del (p.Thr351ProfsTer9) c.1161del (p.Thr388ProfsTer9) c.1104del (p.Thr369ProfsTer9) c.1080-543del c.732del (p.Thr245ProfsTer9) c.*1131del (n.*1131del) c.710del c.678del (p.Thr227ProfsTer9) c.1019del c.1065del (p.Thr356ProfsTer9) c.*528del (n.*528del) c.113del c.942del (p.Thr315ProfsTer9) c.1053del (p.Thr352ProfsTer9) c.1107del (p.Thr370ProfsTer9) n.246del n.536del c.996del (p.Thr333ProfsTer9) c.681del (p.Thr228ProfsTer9) n.1444del n.1279del | |
| 3 | g.193642830T>A | CA437435605 | OPA1 | c.1215T>A (p.Leu405=) c.1050T>A (p.Leu350=) c.1161T>A (p.Leu387=) c.1104T>A (p.Leu368=) c.1080-543T>A c.732T>A (p.Leu244=) c.*1131T>A (n.*1131T>A) c.710T>A c.678T>A (p.Leu226=) c.1019T>A c.1065T>A (p.Leu355=) c.*528T>A (n.*528T>A) c.113T>A c.942T>A (p.Leu314=) c.1053T>A (p.Leu351=) c.1107T>A (p.Leu369=) n.246T>A n.536T>A c.996T>A (p.Leu332=) c.681T>A (p.Leu227=) n.1444T>A n.1279T>A | |
| 3 | g.193642830T>C | CA437435608 | OPA1 | c.1215T>C (p.Leu405=) c.1050T>C (p.Leu350=) c.1161T>C (p.Leu387=) c.1104T>C (p.Leu368=) c.1080-543T>C c.732T>C (p.Leu244=) c.*1131T>C (n.*1131T>C) c.710T>C c.678T>C (p.Leu226=) c.1019T>C c.1065T>C (p.Leu355=) c.*528T>C (n.*528T>C) c.113T>C c.942T>C (p.Leu314=) c.1053T>C (p.Leu351=) c.1107T>C (p.Leu369=) n.246T>C n.536T>C c.996T>C (p.Leu332=) c.681T>C (p.Leu227=) n.1444T>C n.1279T>C | |
| 3 | g.193642830T>G | CA437435610 | OPA1 | c.1215T>G (p.Leu405=) c.1050T>G (p.Leu350=) c.1161T>G (p.Leu387=) c.1104T>G (p.Leu368=) c.1080-543T>G c.732T>G (p.Leu244=) c.*1131T>G (n.*1131T>G) c.710T>G c.678T>G (p.Leu226=) c.1019T>G c.1065T>G (p.Leu355=) c.*528T>G (n.*528T>G) c.113T>G c.942T>G (p.Leu314=) c.1053T>G (p.Leu351=) c.1107T>G (p.Leu369=) n.246T>G n.536T>G c.996T>G (p.Leu332=) c.681T>G (p.Leu227=) n.1444T>G n.1279T>G | |
| 3 | g.193642831A>C | CA355788923 | OPA1 | c.1216A>C (p.Thr406Pro) c.1051A>C (p.Thr351Pro) c.1162A>C (p.Thr388Pro) c.1105A>C (p.Thr369Pro) c.1080-542A>C c.733A>C (p.Thr245Pro) c.*1132A>C (n.*1132A>C) c.711A>C c.679A>C (p.Thr227Pro) c.1020A>C c.1066A>C (p.Thr356Pro) c.*529A>C (n.*529A>C) c.114A>C c.943A>C (p.Thr315Pro) c.1054A>C (p.Thr352Pro) c.1108A>C (p.Thr370Pro) n.247A>C n.537A>C c.997A>C (p.Thr333Pro) c.682A>C (p.Thr228Pro) n.1445A>C n.1280A>C | |
| 3 | g.193642831A>G | CA355788924 | OPA1 | c.1216A>G (p.Thr406Ala) c.1051A>G (p.Thr351Ala) c.1162A>G (p.Thr388Ala) c.1105A>G (p.Thr369Ala) c.1080-542A>G c.733A>G (p.Thr245Ala) c.*1132A>G (n.*1132A>G) c.711A>G c.679A>G (p.Thr227Ala) c.1020A>G c.1066A>G (p.Thr356Ala) c.*529A>G (n.*529A>G) c.114A>G c.943A>G (p.Thr315Ala) c.1054A>G (p.Thr352Ala) c.1108A>G (p.Thr370Ala) n.247A>G n.537A>G c.997A>G (p.Thr333Ala) c.682A>G (p.Thr228Ala) n.1445A>G n.1280A>G | |
| 3 | g.193642831A>T | CA355788922 | OPA1 | c.1216A>T (p.Thr406Ser) c.1051A>T (p.Thr351Ser) c.1162A>T (p.Thr388Ser) c.1105A>T (p.Thr369Ser) c.1080-542A>T c.733A>T (p.Thr245Ser) c.*1132A>T (n.*1132A>T) c.711A>T c.679A>T (p.Thr227Ser) c.1020A>T c.1066A>T (p.Thr356Ser) c.*529A>T (n.*529A>T) c.114A>T c.943A>T (p.Thr315Ser) c.1054A>T (p.Thr352Ser) c.1108A>T (p.Thr370Ser) n.247A>T n.537A>T c.997A>T (p.Thr333Ser) c.682A>T (p.Thr228Ser) n.1445A>T n.1280A>T |