| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.193643005C>A | CA437435924 | OPA1 | c.1261C>A (p.Arg421=) c.1096C>A (p.Arg366=) c.1207C>A (p.Arg403=) c.1150C>A (p.Arg384=) c.1080-368C>A c.778C>A (p.Arg260=) c.*1177C>A (n.*1177C>A) c.756C>A c.724C>A (p.Arg242=) c.1065C>A c.1111C>A (p.Arg371=) c.*574C>A (n.*574C>A) c.128+160C>A c.988C>A (p.Arg330=) c.1099C>A (p.Arg367=) c.1153C>A (p.Arg385=) n.292C>A c.1042C>A (p.Arg348=) c.727C>A (p.Arg243=) n.1490C>A n.1325C>A | COSMIC |
| 3 | g.193643005C= | CA1430244002 | OPA1 | c.1261C= (p.Arg421=) c.1096C= (p.Arg366=) c.1207C= (p.Arg403=) c.1150C= (p.Arg384=) c.1080-368C= c.778C= (p.Arg260=) c.*1177C= (n.*1177C=) c.756C= c.724C= (p.Arg242=) c.1065C= c.1111C= (p.Arg371=) c.*574C= (n.*574C=) c.128+160C= c.988C= (p.Arg330=) c.1099C= (p.Arg367=) c.1153C= (p.Arg385=) n.292C= c.1042C= (p.Arg348=) c.727C= (p.Arg243=) n.1490C= n.1325C= | |
| 3 | g.193643005C>G | CA355789034 | OPA1 | c.1261C>G (p.Arg421Gly) c.1096C>G (p.Arg366Gly) c.1207C>G (p.Arg403Gly) c.1150C>G (p.Arg384Gly) c.1080-368C>G c.778C>G (p.Arg260Gly) c.*1177C>G (n.*1177C>G) c.756C>G c.724C>G (p.Arg242Gly) c.1065C>G c.1111C>G (p.Arg371Gly) c.*574C>G (n.*574C>G) c.128+160C>G c.988C>G (p.Arg330Gly) c.1099C>G (p.Arg367Gly) c.1153C>G (p.Arg385Gly) n.292C>G c.1042C>G (p.Arg348Gly) c.727C>G (p.Arg243Gly) n.1490C>G n.1325C>G | |
| 3 | g.193643005C>T | CA223199 | OPA1 | c.1261C>T (p.Arg421Ter) c.1096C>T (p.Arg366Ter) c.1207C>T (p.Arg403Ter) c.1150C>T (p.Arg384Ter) c.1080-368C>T c.778C>T (p.Arg260Ter) c.*1177C>T (n.*1177C>T) c.756C>T c.724C>T (p.Arg242Ter) c.1065C>T c.1111C>T (p.Arg371Ter) c.*574C>T (n.*574C>T) c.128+160C>T c.988C>T (p.Arg330Ter) c.1099C>T (p.Arg367Ter) c.1153C>T (p.Arg385Ter) n.292C>T c.1042C>T (p.Arg348Ter) c.727C>T (p.Arg243Ter) n.1490C>T n.1325C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.193643006G>A | CA16604502 | OPA1 | c.1262G>A (p.Arg421Gln) c.1097G>A (p.Arg366Gln) c.1208G>A (p.Arg403Gln) c.1151G>A (p.Arg384Gln) c.1080-367G>A c.779G>A (p.Arg260Gln) c.*1178G>A (n.*1178G>A) c.757G>A c.725G>A (p.Arg242Gln) c.1066G>A c.1112G>A (p.Arg371Gln) c.*575G>A (n.*575G>A) c.128+161G>A c.989G>A (p.Arg330Gln) c.1100G>A (p.Arg367Gln) c.1154G>A (p.Arg385Gln) n.293G>A c.1043G>A (p.Arg348Gln) c.728G>A (p.Arg243Gln) n.1491G>A n.1326G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193643006G>C | CA355789036 | OPA1 | c.1262G>C (p.Arg421Pro) c.1097G>C (p.Arg366Pro) c.1208G>C (p.Arg403Pro) c.1151G>C (p.Arg384Pro) c.1080-367G>C c.779G>C (p.Arg260Pro) c.*1178G>C (n.*1178G>C) c.757G>C c.725G>C (p.Arg242Pro) c.1066G>C c.1112G>C (p.Arg371Pro) c.*575G>C (n.*575G>C) c.128+161G>C c.989G>C (p.Arg330Pro) c.1100G>C (p.Arg367Pro) c.1154G>C (p.Arg385Pro) n.293G>C c.1043G>C (p.Arg348Pro) c.728G>C (p.Arg243Pro) n.1491G>C n.1326G>C | |
| 3 | g.193643006G= | CA1430244009 | OPA1 | c.1262G= (p.Arg421=) c.1097G= (p.Arg366=) c.1208G= (p.Arg403=) c.1151G= (p.Arg384=) c.1080-367G= c.779G= (p.Arg260=) c.*1178G= (n.*1178G=) c.757G= c.725G= (p.Arg242=) c.1066G= c.1112G= (p.Arg371=) c.*575G= (n.*575G=) c.128+161G= c.989G= (p.Arg330=) c.1100G= (p.Arg367=) c.1154G= (p.Arg385=) n.293G= c.1043G= (p.Arg348=) c.728G= (p.Arg243=) n.1491G= n.1326G= | |
| 3 | g.193643006G>T | CA355789035 | OPA1 | c.1262G>T (p.Arg421Leu) c.1097G>T (p.Arg366Leu) c.1208G>T (p.Arg403Leu) c.1151G>T (p.Arg384Leu) c.1080-367G>T c.779G>T (p.Arg260Leu) c.*1178G>T (n.*1178G>T) c.757G>T c.725G>T (p.Arg242Leu) c.1066G>T c.1112G>T (p.Arg371Leu) c.*575G>T (n.*575G>T) c.128+161G>T c.989G>T (p.Arg330Leu) c.1100G>T (p.Arg367Leu) c.1154G>T (p.Arg385Leu) n.293G>T c.1043G>T (p.Arg348Leu) c.728G>T (p.Arg243Leu) n.1491G>T n.1326G>T | |
| 3 | g.193643007A>C | CA437435925 | OPA1 | c.1263A>C (p.Arg421=) c.1098A>C (p.Arg366=) c.1209A>C (p.Arg403=) c.1152A>C (p.Arg384=) c.1080-366A>C c.780A>C (p.Arg260=) c.*1179A>C (n.*1179A>C) c.758A>C c.726A>C (p.Arg242=) c.1067A>C c.1113A>C (p.Arg371=) c.*576A>C (n.*576A>C) c.128+162A>C c.990A>C (p.Arg330=) c.1101A>C (p.Arg367=) c.1155A>C (p.Arg385=) n.294A>C c.1044A>C (p.Arg348=) c.729A>C (p.Arg243=) n.1492A>C n.1327A>C | |
| 3 | g.193643007A>G | CA437435926 | OPA1 | c.1263A>G (p.Arg421=) c.1098A>G (p.Arg366=) c.1209A>G (p.Arg403=) c.1152A>G (p.Arg384=) c.1080-366A>G c.780A>G (p.Arg260=) c.*1179A>G (n.*1179A>G) c.758A>G c.726A>G (p.Arg242=) c.1067A>G c.1113A>G (p.Arg371=) c.*576A>G (n.*576A>G) c.128+162A>G c.990A>G (p.Arg330=) c.1101A>G (p.Arg367=) c.1155A>G (p.Arg385=) n.294A>G c.1044A>G (p.Arg348=) c.729A>G (p.Arg243=) n.1492A>G n.1327A>G | |
| 3 | g.193643007A>T | CA437435927 | OPA1 | c.1263A>T (p.Arg421=) c.1098A>T (p.Arg366=) c.1209A>T (p.Arg403=) c.1152A>T (p.Arg384=) c.1080-366A>T c.780A>T (p.Arg260=) c.*1179A>T (n.*1179A>T) c.758A>T c.726A>T (p.Arg242=) c.1067A>T c.1113A>T (p.Arg371=) c.*576A>T (n.*576A>T) c.128+162A>T c.990A>T (p.Arg330=) c.1101A>T (p.Arg367=) c.1155A>T (p.Arg385=) n.294A>T c.1044A>T (p.Arg348=) c.729A>T (p.Arg243=) n.1492A>T n.1327A>T | |
| 3 | g.193643008A>C | CA355789037 | OPA1 | c.1264A>C (p.Met422Leu) c.1099A>C (p.Met367Leu) c.1210A>C (p.Met404Leu) c.1153A>C (p.Met385Leu) c.1080-365A>C c.781A>C (p.Met261Leu) c.*1180A>C (n.*1180A>C) c.759A>C c.727A>C (p.Met243Leu) c.1068A>C c.1114A>C (p.Met372Leu) c.*577A>C (n.*577A>C) c.128+163A>C c.991A>C (p.Met331Leu) c.1102A>C (p.Met368Leu) c.1156A>C (p.Met386Leu) n.295A>C c.1045A>C (p.Met349Leu) c.730A>C (p.Met244Leu) n.1493A>C n.1328A>C | |
| 3 | g.193643008A>G | CA355789038 | OPA1 | c.1264A>G (p.Met422Val) c.1099A>G (p.Met367Val) c.1210A>G (p.Met404Val) c.1153A>G (p.Met385Val) c.1080-365A>G c.781A>G (p.Met261Val) c.*1180A>G (n.*1180A>G) c.759A>G c.727A>G (p.Met243Val) c.1068A>G c.1114A>G (p.Met372Val) c.*577A>G (n.*577A>G) c.128+163A>G c.991A>G (p.Met331Val) c.1102A>G (p.Met368Val) c.1156A>G (p.Met386Val) n.295A>G c.1045A>G (p.Met349Val) c.730A>G (p.Met244Val) n.1493A>G n.1328A>G | |
| 3 | g.193643008A>T | CA355789039 | OPA1 | c.1264A>T (p.Met422Leu) c.1099A>T (p.Met367Leu) c.1210A>T (p.Met404Leu) c.1153A>T (p.Met385Leu) c.1080-365A>T c.781A>T (p.Met261Leu) c.*1180A>T (n.*1180A>T) c.759A>T c.727A>T (p.Met243Leu) c.1068A>T c.1114A>T (p.Met372Leu) c.*577A>T (n.*577A>T) c.128+163A>T c.991A>T (p.Met331Leu) c.1102A>T (p.Met368Leu) c.1156A>T (p.Met386Leu) n.295A>T c.1045A>T (p.Met349Leu) c.730A>T (p.Met244Leu) n.1493A>T n.1328A>T | |
| 3 | g.193643009T>A | CA355789040 | OPA1 | c.1265T>A (p.Met422Lys) c.1100T>A (p.Met367Lys) c.1211T>A (p.Met404Lys) c.1154T>A (p.Met385Lys) c.1080-364T>A c.782T>A (p.Met261Lys) c.*1181T>A (n.*1181T>A) c.760T>A c.728T>A (p.Met243Lys) c.1069T>A c.1115T>A (p.Met372Lys) c.*578T>A (n.*578T>A) c.128+164T>A c.992T>A (p.Met331Lys) c.1103T>A (p.Met368Lys) c.1157T>A (p.Met386Lys) n.296T>A c.1046T>A (p.Met349Lys) c.731T>A (p.Met244Lys) n.1494T>A n.1329T>A | |
| 3 | g.193643009T>C | CA355789041 | OPA1 | c.1265T>C (p.Met422Thr) c.1100T>C (p.Met367Thr) c.1211T>C (p.Met404Thr) c.1154T>C (p.Met385Thr) c.1080-364T>C c.782T>C (p.Met261Thr) c.*1181T>C (n.*1181T>C) c.760T>C c.728T>C (p.Met243Thr) c.1069T>C c.1115T>C (p.Met372Thr) c.*578T>C (n.*578T>C) c.128+164T>C c.992T>C (p.Met331Thr) c.1103T>C (p.Met368Thr) c.1157T>C (p.Met386Thr) n.296T>C c.1046T>C (p.Met349Thr) c.731T>C (p.Met244Thr) n.1494T>C n.1329T>C | |
| 3 | g.193643009T>G | CA355789042 | OPA1 | c.1265T>G (p.Met422Arg) c.1100T>G (p.Met367Arg) c.1211T>G (p.Met404Arg) c.1154T>G (p.Met385Arg) c.1080-364T>G c.782T>G (p.Met261Arg) c.*1181T>G (n.*1181T>G) c.760T>G c.728T>G (p.Met243Arg) c.1069T>G c.1115T>G (p.Met372Arg) c.*578T>G (n.*578T>G) c.128+164T>G c.992T>G (p.Met331Arg) c.1103T>G (p.Met368Arg) c.1157T>G (p.Met386Arg) n.296T>G c.1046T>G (p.Met349Arg) c.731T>G (p.Met244Arg) n.1494T>G n.1329T>G | |
| 3 | g.193643010del | CA2577995017 | OPA1 | c.1266del (p.Met422IlefsTer5) c.1101del (p.Met367IlefsTer5) c.1212del (p.Met404IlefsTer5) c.1155del (p.Met385IlefsTer5) c.1080-363del c.783del (p.Met261IlefsTer5) c.*1182del (n.*1182del) c.761del c.729del (p.Met243IlefsTer5) c.1070del c.1116del (p.Met372IlefsTer5) c.*579del (n.*579del) c.128+165del c.993del (p.Met331IlefsTer5) c.1104del (p.Met368IlefsTer5) c.1158del (p.Met386IlefsTer5) n.297del c.1047del (p.Met349IlefsTer5) c.732del (p.Met244IlefsTer5) n.1495del n.1330del | |
| 3 | g.193643010G>A | CA355789043 | OPA1 | c.1266G>A (p.Met422Ile) c.1101G>A (p.Met367Ile) c.1212G>A (p.Met404Ile) c.1155G>A (p.Met385Ile) c.1080-363G>A c.783G>A (p.Met261Ile) c.*1182G>A (n.*1182G>A) c.761G>A c.729G>A (p.Met243Ile) c.1070G>A c.1116G>A (p.Met372Ile) c.*579G>A (n.*579G>A) c.128+165G>A c.993G>A (p.Met331Ile) c.1104G>A (p.Met368Ile) c.1158G>A (p.Met386Ile) n.297G>A c.1047G>A (p.Met349Ile) c.732G>A (p.Met244Ile) n.1495G>A n.1330G>A | |
| 3 | g.193643010G>C | CA355789044 | OPA1 | c.1266G>C (p.Met422Ile) c.1101G>C (p.Met367Ile) c.1212G>C (p.Met404Ile) c.1155G>C (p.Met385Ile) c.1080-363G>C c.783G>C (p.Met261Ile) c.*1182G>C (n.*1182G>C) c.761G>C c.729G>C (p.Met243Ile) c.1070G>C c.1116G>C (p.Met372Ile) c.*579G>C (n.*579G>C) c.128+165G>C c.993G>C (p.Met331Ile) c.1104G>C (p.Met368Ile) c.1158G>C (p.Met386Ile) n.297G>C c.1047G>C (p.Met349Ile) c.732G>C (p.Met244Ile) n.1495G>C n.1330G>C | |
| 3 | g.193643010G>T | CA355789045 | OPA1 | c.1266G>T (p.Met422Ile) c.1101G>T (p.Met367Ile) c.1212G>T (p.Met404Ile) c.1155G>T (p.Met385Ile) c.1080-363G>T c.783G>T (p.Met261Ile) c.*1182G>T (n.*1182G>T) c.761G>T c.729G>T (p.Met243Ile) c.1070G>T c.1116G>T (p.Met372Ile) c.*579G>T (n.*579G>T) c.128+165G>T c.993G>T (p.Met331Ile) c.1104G>T (p.Met368Ile) c.1158G>T (p.Met386Ile) n.297G>T c.1047G>T (p.Met349Ile) c.732G>T (p.Met244Ile) n.1495G>T n.1330G>T | |
| 3 | g.193643011del | CA2586973441 | OPA1 | c.1267del (p.Arg423GlyfsTer4) c.1102del (p.Arg368GlyfsTer4) c.1213del (p.Arg405GlyfsTer4) c.1156del (p.Arg386GlyfsTer4) c.1080-362del c.784del (p.Arg262GlyfsTer4) c.*1183del (n.*1183del) c.762del c.730del (p.Arg244GlyfsTer4) c.1071del c.1117del (p.Arg373GlyfsTer4) c.*580del (n.*580del) c.128+166del c.994del (p.Arg332GlyfsTer4) c.1105del (p.Arg369GlyfsTer4) c.1159del (p.Arg387GlyfsTer4) n.298del c.1048del (p.Arg350GlyfsTer4) c.733del (p.Arg245GlyfsTer4) n.1496del n.1331del | |
| 3 | g.193643011A>C | CA437435928 | OPA1 | c.1267A>C (p.Arg423=) c.1102A>C (p.Arg368=) c.1213A>C (p.Arg405=) c.1156A>C (p.Arg386=) c.1080-362A>C c.784A>C (p.Arg262=) c.*1183A>C (n.*1183A>C) c.762A>C c.730A>C (p.Arg244=) c.1071A>C c.1117A>C (p.Arg373=) c.*580A>C (n.*580A>C) c.128+166A>C c.994A>C (p.Arg332=) c.1105A>C (p.Arg369=) c.1159A>C (p.Arg387=) n.298A>C c.1048A>C (p.Arg350=) c.733A>C (p.Arg245=) n.1496A>C n.1331A>C | |
| 3 | g.193643011A>G | CA355789046 | OPA1 | c.1267A>G (p.Arg423Gly) c.1102A>G (p.Arg368Gly) c.1213A>G (p.Arg405Gly) c.1156A>G (p.Arg386Gly) c.1080-362A>G c.784A>G (p.Arg262Gly) c.*1183A>G (n.*1183A>G) c.762A>G c.730A>G (p.Arg244Gly) c.1071A>G c.1117A>G (p.Arg373Gly) c.*580A>G (n.*580A>G) c.128+166A>G c.994A>G (p.Arg332Gly) c.1105A>G (p.Arg369Gly) c.1159A>G (p.Arg387Gly) n.298A>G c.1048A>G (p.Arg350Gly) c.733A>G (p.Arg245Gly) n.1496A>G n.1331A>G | |
| 3 | g.193643011A>T | CA355789047 | OPA1 | c.1267A>T (p.Arg423Trp) c.1102A>T (p.Arg368Trp) c.1213A>T (p.Arg405Trp) c.1156A>T (p.Arg386Trp) c.1080-362A>T c.784A>T (p.Arg262Trp) c.*1183A>T (n.*1183A>T) c.762A>T c.730A>T (p.Arg244Trp) c.1071A>T c.1117A>T (p.Arg373Trp) c.*580A>T (n.*580A>T) c.128+166A>T c.994A>T (p.Arg332Trp) c.1105A>T (p.Arg369Trp) c.1159A>T (p.Arg387Trp) n.298A>T c.1048A>T (p.Arg350Trp) c.733A>T (p.Arg245Trp) n.1496A>T n.1331A>T | |
| 3 | g.193643012G>A | CA355789048 | OPA1 | c.1268G>A (p.Arg423Lys) c.1103G>A (p.Arg368Lys) c.1214G>A (p.Arg405Lys) c.1157G>A (p.Arg386Lys) c.1080-361G>A c.785G>A (p.Arg262Lys) c.*1184G>A (n.*1184G>A) c.763G>A c.731G>A (p.Arg244Lys) c.1072G>A c.1118G>A (p.Arg373Lys) c.*581G>A (n.*581G>A) c.128+167G>A c.995G>A (p.Arg332Lys) c.1106G>A (p.Arg369Lys) c.1160G>A (p.Arg387Lys) n.299G>A c.1049G>A (p.Arg350Lys) c.734G>A (p.Arg245Lys) n.1497G>A n.1332G>A | |
| 3 | g.193643012G>C | CA355789049 | OPA1 | c.1268G>C (p.Arg423Thr) c.1103G>C (p.Arg368Thr) c.1214G>C (p.Arg405Thr) c.1157G>C (p.Arg386Thr) c.1080-361G>C c.785G>C (p.Arg262Thr) c.*1184G>C (n.*1184G>C) c.763G>C c.731G>C (p.Arg244Thr) c.1072G>C c.1118G>C (p.Arg373Thr) c.*581G>C (n.*581G>C) c.128+167G>C c.995G>C (p.Arg332Thr) c.1106G>C (p.Arg369Thr) c.1160G>C (p.Arg387Thr) n.299G>C c.1049G>C (p.Arg350Thr) c.734G>C (p.Arg245Thr) n.1497G>C n.1332G>C | |
| 3 | g.193643012G>T | CA355789050 | OPA1 | c.1268G>T (p.Arg423Met) c.1103G>T (p.Arg368Met) c.1214G>T (p.Arg405Met) c.1157G>T (p.Arg386Met) c.1080-361G>T c.785G>T (p.Arg262Met) c.*1184G>T (n.*1184G>T) c.763G>T c.731G>T (p.Arg244Met) c.1072G>T c.1118G>T (p.Arg373Met) c.*581G>T (n.*581G>T) c.128+167G>T c.995G>T (p.Arg332Met) c.1106G>T (p.Arg369Met) c.1160G>T (p.Arg387Met) n.299G>T c.1049G>T (p.Arg350Met) c.734G>T (p.Arg245Met) n.1497G>T n.1332G>T | |
| 3 | g.193643013G>A | CA437435930 | OPA1 | c.1269G>A (p.Arg423=) c.1104G>A (p.Arg368=) c.1215G>A (p.Arg405=) c.1158G>A (p.Arg386=) c.1080-360G>A c.786G>A (p.Arg262=) c.*1185G>A (n.*1185G>A) c.764G>A c.732G>A (p.Arg244=) c.1073G>A c.1119G>A (p.Arg373=) c.*582G>A (n.*582G>A) c.128+168G>A c.996G>A (p.Arg332=) c.1107G>A (p.Arg369=) c.1161G>A (p.Arg387=) n.300G>A c.1050G>A (p.Arg350=) c.735G>A (p.Arg245=) n.1498G>A n.1333G>A | gnomAD v4 |
| 3 | g.193643013G>C | CA355789051 | OPA1 | c.1269G>C (p.Arg423Ser) c.1104G>C (p.Arg368Ser) c.1215G>C (p.Arg405Ser) c.1158G>C (p.Arg386Ser) c.1080-360G>C c.786G>C (p.Arg262Ser) c.*1185G>C (n.*1185G>C) c.764G>C c.732G>C (p.Arg244Ser) c.1073G>C c.1119G>C (p.Arg373Ser) c.*582G>C (n.*582G>C) c.128+168G>C c.996G>C (p.Arg332Ser) c.1107G>C (p.Arg369Ser) c.1161G>C (p.Arg387Ser) n.300G>C c.1050G>C (p.Arg350Ser) c.735G>C (p.Arg245Ser) n.1498G>C n.1333G>C | |
| 3 | g.193643013G>T | CA355789052 | OPA1 | c.1269G>T (p.Arg423Ser) c.1104G>T (p.Arg368Ser) c.1215G>T (p.Arg405Ser) c.1158G>T (p.Arg386Ser) c.1080-360G>T c.786G>T (p.Arg262Ser) c.*1185G>T (n.*1185G>T) c.764G>T c.732G>T (p.Arg244Ser) c.1073G>T c.1119G>T (p.Arg373Ser) c.*582G>T (n.*582G>T) c.128+168G>T c.996G>T (p.Arg332Ser) c.1107G>T (p.Arg369Ser) c.1161G>T (p.Arg387Ser) n.300G>T c.1050G>T (p.Arg350Ser) c.735G>T (p.Arg245Ser) n.1498G>T n.1333G>T | |
| 3 | g.193643014A>C | CA355789053 | OPA1 | c.1270A>C (p.Lys424Gln) c.1105A>C (p.Lys369Gln) c.1216A>C (p.Lys406Gln) c.1159A>C (p.Lys387Gln) c.1080-359A>C c.787A>C (p.Lys263Gln) c.*1186A>C (n.*1186A>C) c.765A>C c.733A>C (p.Lys245Gln) c.1074A>C c.1120A>C (p.Lys374Gln) c.*583A>C (n.*583A>C) c.128+169A>C c.997A>C (p.Lys333Gln) c.1108A>C (p.Lys370Gln) c.1162A>C (p.Lys388Gln) n.301A>C c.1051A>C (p.Lys351Gln) c.736A>C (p.Lys246Gln) n.1499A>C n.1334A>C | |
| 3 | g.193643014A>G | CA355789054 | OPA1 | c.1270A>G (p.Lys424Glu) c.1105A>G (p.Lys369Glu) c.1216A>G (p.Lys406Glu) c.1159A>G (p.Lys387Glu) c.1080-359A>G c.787A>G (p.Lys263Glu) c.*1186A>G (n.*1186A>G) c.765A>G c.733A>G (p.Lys245Glu) c.1074A>G c.1120A>G (p.Lys374Glu) c.*583A>G (n.*583A>G) c.128+169A>G c.997A>G (p.Lys333Glu) c.1108A>G (p.Lys370Glu) c.1162A>G (p.Lys388Glu) n.301A>G c.1051A>G (p.Lys351Glu) c.736A>G (p.Lys246Glu) n.1499A>G n.1334A>G | |
| 3 | g.193643014A>T | CA355789055 | OPA1 | c.1270A>T (p.Lys424Ter) c.1105A>T (p.Lys369Ter) c.1216A>T (p.Lys406Ter) c.1159A>T (p.Lys387Ter) c.1080-359A>T c.787A>T (p.Lys263Ter) c.*1186A>T (n.*1186A>T) c.765A>T c.733A>T (p.Lys245Ter) c.1074A>T c.1120A>T (p.Lys374Ter) c.*583A>T (n.*583A>T) c.128+169A>T c.997A>T (p.Lys333Ter) c.1108A>T (p.Lys370Ter) c.1162A>T (p.Lys388Ter) n.301A>T c.1051A>T (p.Lys351Ter) c.736A>T (p.Lys246Ter) n.1499A>T n.1334A>T | |
| 3 | g.193643018del | CA2669103118 | OPA1 | c.1274del (p.Asn425MetfsTer2) c.1109del (p.Asn370MetfsTer2) c.1220del (p.Asn407MetfsTer2) c.1163del (p.Asn388MetfsTer2) c.1080-355del c.791del (p.Asn264MetfsTer2) c.*1190del (n.*1190del) c.769del c.737del (p.Asn246MetfsTer2) c.1078del c.1124del (p.Asn375MetfsTer2) c.*587del (n.*587del) c.128+173del c.1001del (p.Asn334MetfsTer2) c.1112del (p.Asn371MetfsTer2) c.1166del (p.Asn389MetfsTer2) n.305del c.1055del (p.Asn352MetfsTer2) c.740del (p.Asn247MetfsTer2) n.1503del n.1338del | gnomAD v4 |
| 3 | g.193643015A= | CA1430244016 | OPA1 | c.1271A= (p.Lys424=) c.1106A= (p.Lys369=) c.1217A= (p.Lys406=) c.1160A= (p.Lys387=) c.1080-358A= c.788A= (p.Lys263=) c.*1187A= (n.*1187A=) c.766A= c.734A= (p.Lys245=) c.1075A= c.1121A= (p.Lys374=) c.*584A= (n.*584A=) c.128+170A= c.998A= (p.Lys333=) c.1109A= (p.Lys370=) c.1163A= (p.Lys388=) n.302A= c.1052A= (p.Lys351=) c.737A= (p.Lys246=) n.1500A= n.1335A= | |
| 3 | g.193643015A>C | CA355789056 | OPA1 | c.1271A>C (p.Lys424Thr) c.1106A>C (p.Lys369Thr) c.1217A>C (p.Lys406Thr) c.1160A>C (p.Lys387Thr) c.1080-358A>C c.788A>C (p.Lys263Thr) c.*1187A>C (n.*1187A>C) c.766A>C c.734A>C (p.Lys245Thr) c.1075A>C c.1121A>C (p.Lys374Thr) c.*584A>C (n.*584A>C) c.128+170A>C c.998A>C (p.Lys333Thr) c.1109A>C (p.Lys370Thr) c.1163A>C (p.Lys388Thr) n.302A>C c.1052A>C (p.Lys351Thr) c.737A>C (p.Lys246Thr) n.1500A>C n.1335A>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.193643015A>G | CA355789057 | OPA1 | c.1271A>G (p.Lys424Arg) c.1106A>G (p.Lys369Arg) c.1217A>G (p.Lys406Arg) c.1160A>G (p.Lys387Arg) c.1080-358A>G c.788A>G (p.Lys263Arg) c.*1187A>G (n.*1187A>G) c.766A>G c.734A>G (p.Lys245Arg) c.1075A>G c.1121A>G (p.Lys374Arg) c.*584A>G (n.*584A>G) c.128+170A>G c.998A>G (p.Lys333Arg) c.1109A>G (p.Lys370Arg) c.1163A>G (p.Lys388Arg) n.302A>G c.1052A>G (p.Lys351Arg) c.737A>G (p.Lys246Arg) n.1500A>G n.1335A>G | |
| 3 | g.193643015A>T | CA355789058 | OPA1 | c.1271A>T (p.Lys424Ile) c.1106A>T (p.Lys369Ile) c.1217A>T (p.Lys406Ile) c.1160A>T (p.Lys387Ile) c.1080-358A>T c.788A>T (p.Lys263Ile) c.*1187A>T (n.*1187A>T) c.766A>T c.734A>T (p.Lys245Ile) c.1075A>T c.1121A>T (p.Lys374Ile) c.*584A>T (n.*584A>T) c.128+170A>T c.998A>T (p.Lys333Ile) c.1109A>T (p.Lys370Ile) c.1163A>T (p.Lys388Ile) n.302A>T c.1052A>T (p.Lys351Ile) c.737A>T (p.Lys246Ile) n.1500A>T n.1335A>T | |
| 3 | g.193643016A= | CA1430244023 | OPA1 | c.1272A= (p.Lys424=) c.1107A= (p.Lys369=) c.1218A= (p.Lys406=) c.1161A= (p.Lys387=) c.1080-357A= c.789A= (p.Lys263=) c.*1188A= (n.*1188A=) c.767A= c.735A= (p.Lys245=) c.1076A= c.1122A= (p.Lys374=) c.*585A= (n.*585A=) c.128+171A= c.999A= (p.Lys333=) c.1110A= (p.Lys370=) c.1164A= (p.Lys388=) n.303A= c.1053A= (p.Lys351=) c.738A= (p.Lys246=) n.1501A= n.1336A= | |
| 3 | g.193643016A>C | CA355789059 | OPA1 | c.1272A>C (p.Lys424Asn) c.1107A>C (p.Lys369Asn) c.1218A>C (p.Lys406Asn) c.1161A>C (p.Lys387Asn) c.1080-357A>C c.789A>C (p.Lys263Asn) c.*1188A>C (n.*1188A>C) c.767A>C c.735A>C (p.Lys245Asn) c.1076A>C c.1122A>C (p.Lys374Asn) c.*585A>C (n.*585A>C) c.128+171A>C c.999A>C (p.Lys333Asn) c.1110A>C (p.Lys370Asn) c.1164A>C (p.Lys388Asn) n.303A>C c.1053A>C (p.Lys351Asn) c.738A>C (p.Lys246Asn) n.1501A>C n.1336A>C | |
| 3 | g.193643016A>G | CA437435932 | OPA1 | c.1272A>G (p.Lys424=) c.1107A>G (p.Lys369=) c.1218A>G (p.Lys406=) c.1161A>G (p.Lys387=) c.1080-357A>G c.789A>G (p.Lys263=) c.*1188A>G (n.*1188A>G) c.767A>G c.735A>G (p.Lys245=) c.1076A>G c.1122A>G (p.Lys374=) c.*585A>G (n.*585A>G) c.128+171A>G c.999A>G (p.Lys333=) c.1110A>G (p.Lys370=) c.1164A>G (p.Lys388=) n.303A>G c.1053A>G (p.Lys351=) c.738A>G (p.Lys246=) n.1501A>G n.1336A>G | dbSNP gnomAD v4 |
| 3 | g.193643016A>T | CA355789060 | OPA1 | c.1272A>T (p.Lys424Asn) c.1107A>T (p.Lys369Asn) c.1218A>T (p.Lys406Asn) c.1161A>T (p.Lys387Asn) c.1080-357A>T c.789A>T (p.Lys263Asn) c.*1188A>T (n.*1188A>T) c.767A>T c.735A>T (p.Lys245Asn) c.1076A>T c.1122A>T (p.Lys374Asn) c.*585A>T (n.*585A>T) c.128+171A>T c.999A>T (p.Lys333Asn) c.1110A>T (p.Lys370Asn) c.1164A>T (p.Lys388Asn) n.303A>T c.1053A>T (p.Lys351Asn) c.738A>T (p.Lys246Asn) n.1501A>T n.1336A>T | |
| 3 | g.193643017A>C | CA355789061 | OPA1 | c.1273A>C (p.Asn425His) c.1108A>C (p.Asn370His) c.1219A>C (p.Asn407His) c.1162A>C (p.Asn388His) c.1080-356A>C c.790A>C (p.Asn264His) c.*1189A>C (n.*1189A>C) c.768A>C c.736A>C (p.Asn246His) c.1077A>C c.1123A>C (p.Asn375His) c.*586A>C (n.*586A>C) c.128+172A>C c.1000A>C (p.Asn334His) c.1111A>C (p.Asn371His) c.1165A>C (p.Asn389His) n.304A>C c.1054A>C (p.Asn352His) c.739A>C (p.Asn247His) n.1502A>C n.1337A>C | |
| 3 | g.193643017A>G | CA355789063 | OPA1 | c.1273A>G (p.Asn425Asp) c.1108A>G (p.Asn370Asp) c.1219A>G (p.Asn407Asp) c.1162A>G (p.Asn388Asp) c.1080-356A>G c.790A>G (p.Asn264Asp) c.*1189A>G (n.*1189A>G) c.768A>G c.736A>G (p.Asn246Asp) c.1077A>G c.1123A>G (p.Asn375Asp) c.*586A>G (n.*586A>G) c.128+172A>G c.1000A>G (p.Asn334Asp) c.1111A>G (p.Asn371Asp) c.1165A>G (p.Asn389Asp) n.304A>G c.1054A>G (p.Asn352Asp) c.739A>G (p.Asn247Asp) n.1502A>G n.1337A>G | |
| 3 | g.193643017A>T | CA355789062 | OPA1 | c.1273A>T (p.Asn425Tyr) c.1108A>T (p.Asn370Tyr) c.1219A>T (p.Asn407Tyr) c.1162A>T (p.Asn388Tyr) c.1080-356A>T c.790A>T (p.Asn264Tyr) c.*1189A>T (n.*1189A>T) c.768A>T c.736A>T (p.Asn246Tyr) c.1077A>T c.1123A>T (p.Asn375Tyr) c.*586A>T (n.*586A>T) c.128+172A>T c.1000A>T (p.Asn334Tyr) c.1111A>T (p.Asn371Tyr) c.1165A>T (p.Asn389Tyr) n.304A>T c.1054A>T (p.Asn352Tyr) c.739A>T (p.Asn247Tyr) n.1502A>T n.1337A>T | |
| 3 | g.193643018A>C | CA355789064 | OPA1 | c.1274A>C (p.Asn425Thr) c.1109A>C (p.Asn370Thr) c.1220A>C (p.Asn407Thr) c.1163A>C (p.Asn388Thr) c.1080-355A>C c.791A>C (p.Asn264Thr) c.*1190A>C (n.*1190A>C) c.769A>C c.737A>C (p.Asn246Thr) c.1078A>C c.1124A>C (p.Asn375Thr) c.*587A>C (n.*587A>C) c.128+173A>C c.1001A>C (p.Asn334Thr) c.1112A>C (p.Asn371Thr) c.1166A>C (p.Asn389Thr) n.305A>C c.1055A>C (p.Asn352Thr) c.740A>C (p.Asn247Thr) n.1503A>C n.1338A>C | |
| 3 | g.193643018A>G | CA355789065 | OPA1 | c.1274A>G (p.Asn425Ser) c.1109A>G (p.Asn370Ser) c.1220A>G (p.Asn407Ser) c.1163A>G (p.Asn388Ser) c.1080-355A>G c.791A>G (p.Asn264Ser) c.*1190A>G (n.*1190A>G) c.769A>G c.737A>G (p.Asn246Ser) c.1078A>G c.1124A>G (p.Asn375Ser) c.*587A>G (n.*587A>G) c.128+173A>G c.1001A>G (p.Asn334Ser) c.1112A>G (p.Asn371Ser) c.1166A>G (p.Asn389Ser) n.305A>G c.1055A>G (p.Asn352Ser) c.740A>G (p.Asn247Ser) n.1503A>G n.1338A>G | |
| 3 | g.193643018A>T | CA355789066 | OPA1 | c.1274A>T (p.Asn425Ile) c.1109A>T (p.Asn370Ile) c.1220A>T (p.Asn407Ile) c.1163A>T (p.Asn388Ile) c.1080-355A>T c.791A>T (p.Asn264Ile) c.*1190A>T (n.*1190A>T) c.769A>T c.737A>T (p.Asn246Ile) c.1078A>T c.1124A>T (p.Asn375Ile) c.*587A>T (n.*587A>T) c.128+173A>T c.1001A>T (p.Asn334Ile) c.1112A>T (p.Asn371Ile) c.1166A>T (p.Asn389Ile) n.305A>T c.1055A>T (p.Asn352Ile) c.740A>T (p.Asn247Ile) n.1503A>T n.1338A>T | |
| 3 | g.193643019T>A | CA355789067 | OPA1 | c.1275T>A (p.Asn425Lys) c.1110T>A (p.Asn370Lys) c.1221T>A (p.Asn407Lys) c.1164T>A (p.Asn388Lys) c.1080-354T>A c.792T>A (p.Asn264Lys) c.*1191T>A (n.*1191T>A) c.770T>A c.738T>A (p.Asn246Lys) c.1079T>A c.1125T>A (p.Asn375Lys) c.*588T>A (n.*588T>A) c.128+174T>A c.1002T>A (p.Asn334Lys) c.1113T>A (p.Asn371Lys) c.1167T>A (p.Asn389Lys) n.306T>A c.1056T>A (p.Asn352Lys) c.741T>A (p.Asn247Lys) n.1504T>A n.1339T>A |