UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.193643516T>C | CA1057904448 | OPA1 | c.1378-12T>C (n.1378-12T>C) c.1213-12T>C (n.1213-12T>C) c.1324-12T>C (n.1324-12T>C) c.1267-12T>C (n.1267-12T>C) c.1152-12T>C c.895-12T>C (n.895-12T>C) c.*1294-12T>C (n.*1294-12T>C) c.873-12T>C c.841-12T>C (n.841-12T>C) c.1182-12T>C c.1228-12T>C (n.1228-12T>C) c.*691-12T>C (n.*691-12T>C) c.201-12T>C c.1105-12T>C (n.1105-12T>C) c.1216-12T>C (n.1216-12T>C) c.1270-12T>C (n.1270-12T>C) n.409-12T>C c.1159-12T>C (n.1159-12T>C) c.844-12T>C (n.844-12T>C) n.1607-12T>C n.1442-12T>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.193643516T= | CA1430245033 | OPA1 | c.1378-12T= (n.1378-12T=) c.1213-12T= (n.1213-12T=) c.1324-12T= (n.1324-12T=) c.1267-12T= (n.1267-12T=) c.1152-12T= c.895-12T= (n.895-12T=) c.*1294-12T= (n.*1294-12T=) c.873-12T= c.841-12T= (n.841-12T=) c.1182-12T= c.1228-12T= (n.1228-12T=) c.*691-12T= (n.*691-12T=) c.201-12T= c.1105-12T= (n.1105-12T=) c.1216-12T= (n.1216-12T=) c.1270-12T= (n.1270-12T=) n.409-12T= c.1159-12T= (n.1159-12T=) c.844-12T= (n.844-12T=) n.1607-12T= n.1442-12T= | |
| 3 | g.193643517T>C | CA1057904452 | OPA1 | c.1378-11T>C (n.1378-11T>C) c.1213-11T>C (n.1213-11T>C) c.1324-11T>C (n.1324-11T>C) c.1267-11T>C (n.1267-11T>C) c.1152-11T>C c.895-11T>C (n.895-11T>C) c.*1294-11T>C (n.*1294-11T>C) c.873-11T>C c.841-11T>C (n.841-11T>C) c.1182-11T>C c.1228-11T>C (n.1228-11T>C) c.*691-11T>C (n.*691-11T>C) c.201-11T>C c.1105-11T>C (n.1105-11T>C) c.1216-11T>C (n.1216-11T>C) c.1270-11T>C (n.1270-11T>C) n.409-11T>C c.1159-11T>C (n.1159-11T>C) c.844-11T>C (n.844-11T>C) n.1607-11T>C n.1442-11T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.193643517T= | CA1430245039 | OPA1 | c.1378-11T= (n.1378-11T=) c.1213-11T= (n.1213-11T=) c.1324-11T= (n.1324-11T=) c.1267-11T= (n.1267-11T=) c.1152-11T= c.895-11T= (n.895-11T=) c.*1294-11T= (n.*1294-11T=) c.873-11T= c.841-11T= (n.841-11T=) c.1182-11T= c.1228-11T= (n.1228-11T=) c.*691-11T= (n.*691-11T=) c.201-11T= c.1105-11T= (n.1105-11T=) c.1216-11T= (n.1216-11T=) c.1270-11T= (n.1270-11T=) n.409-11T= c.1159-11T= (n.1159-11T=) c.844-11T= (n.844-11T=) n.1607-11T= n.1442-11T= | |
| 3 | g.193643521_193643524del | CA2586973454 | OPA1 | c.1378-7_1378-4del (n.1378-7_1378-4del) c.1213-7_1213-4del (n.1213-7_1213-4del) c.1324-7_1324-4del (n.1324-7_1324-4del) c.1267-7_1267-4del (n.1267-7_1267-4del) c.1152-7_1152-4del c.895-7_895-4del (n.895-7_895-4del) c.*1294-7_*1294-4del (n.*1294-7_*1294-4del) c.873-7_873-4del c.841-7_841-4del (n.841-7_841-4del) c.1182-7_1182-4del c.1228-7_1228-4del (n.1228-7_1228-4del) c.*691-7_*691-4del (n.*691-7_*691-4del) c.201-7_201-4del c.1105-7_1105-4del (n.1105-7_1105-4del) c.1216-7_1216-4del (n.1216-7_1216-4del) c.1270-7_1270-4del (n.1270-7_1270-4del) n.409-7_409-4del c.1159-7_1159-4del (n.1159-7_1159-4del) c.844-7_844-4del (n.844-7_844-4del) n.1607-7_1607-4del n.1442-7_1442-4del | |
| 3 | g.193643519T>A | CA548822176 | OPA1 | c.1378-9T>A (n.1378-9T>A) c.1213-9T>A (n.1213-9T>A) c.1324-9T>A (n.1324-9T>A) c.1267-9T>A (n.1267-9T>A) c.1152-9T>A c.895-9T>A (n.895-9T>A) c.*1294-9T>A (n.*1294-9T>A) c.873-9T>A c.841-9T>A (n.841-9T>A) c.1182-9T>A c.1228-9T>A (n.1228-9T>A) c.*691-9T>A (n.*691-9T>A) c.201-9T>A c.1105-9T>A (n.1105-9T>A) c.1216-9T>A (n.1216-9T>A) c.1270-9T>A (n.1270-9T>A) n.409-9T>A c.1159-9T>A (n.1159-9T>A) c.844-9T>A (n.844-9T>A) n.1607-9T>A n.1442-9T>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.193643519T= | CA1430245041 | OPA1 | c.1378-9T= (n.1378-9T=) c.1213-9T= (n.1213-9T=) c.1324-9T= (n.1324-9T=) c.1267-9T= (n.1267-9T=) c.1152-9T= c.895-9T= (n.895-9T=) c.*1294-9T= (n.*1294-9T=) c.873-9T= c.841-9T= (n.841-9T=) c.1182-9T= c.1228-9T= (n.1228-9T=) c.*691-9T= (n.*691-9T=) c.201-9T= c.1105-9T= (n.1105-9T=) c.1216-9T= (n.1216-9T=) c.1270-9T= (n.1270-9T=) n.409-9T= c.1159-9T= (n.1159-9T=) c.844-9T= (n.844-9T=) n.1607-9T= n.1442-9T= | |
| 3 | g.193643521C>A | CA2669104843 | OPA1 | c.1378-7C>A (n.1378-7C>A) c.1213-7C>A (n.1213-7C>A) c.1324-7C>A (n.1324-7C>A) c.1267-7C>A (n.1267-7C>A) c.1152-7C>A c.895-7C>A (n.895-7C>A) c.*1294-7C>A (n.*1294-7C>A) c.873-7C>A c.841-7C>A (n.841-7C>A) c.1182-7C>A c.1228-7C>A (n.1228-7C>A) c.*691-7C>A (n.*691-7C>A) c.201-7C>A c.1105-7C>A (n.1105-7C>A) c.1216-7C>A (n.1216-7C>A) c.1270-7C>A (n.1270-7C>A) n.409-7C>A c.1159-7C>A (n.1159-7C>A) c.844-7C>A (n.844-7C>A) n.1607-7C>A n.1442-7C>A | gnomAD v4 |
| 3 | g.193643522T>C | CA548822178 | OPA1 | c.1378-6T>C (n.1378-6T>C) c.1213-6T>C (n.1213-6T>C) c.1324-6T>C (n.1324-6T>C) c.1267-6T>C (n.1267-6T>C) c.1152-6T>C c.895-6T>C (n.895-6T>C) c.*1294-6T>C (n.*1294-6T>C) c.873-6T>C c.841-6T>C (n.841-6T>C) c.1182-6T>C c.1228-6T>C (n.1228-6T>C) c.*691-6T>C (n.*691-6T>C) c.201-6T>C c.1105-6T>C (n.1105-6T>C) c.1216-6T>C (n.1216-6T>C) c.1270-6T>C (n.1270-6T>C) n.409-6T>C c.1159-6T>C (n.1159-6T>C) c.844-6T>C (n.844-6T>C) n.1607-6T>C n.1442-6T>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.193643522T>G | CA2669104845 | OPA1 | c.1378-6T>G (n.1378-6T>G) c.1213-6T>G (n.1213-6T>G) c.1324-6T>G (n.1324-6T>G) c.1267-6T>G (n.1267-6T>G) c.1152-6T>G c.895-6T>G (n.895-6T>G) c.*1294-6T>G (n.*1294-6T>G) c.873-6T>G c.841-6T>G (n.841-6T>G) c.1182-6T>G c.1228-6T>G (n.1228-6T>G) c.*691-6T>G (n.*691-6T>G) c.201-6T>G c.1105-6T>G (n.1105-6T>G) c.1216-6T>G (n.1216-6T>G) c.1270-6T>G (n.1270-6T>G) n.409-6T>G c.1159-6T>G (n.1159-6T>G) c.844-6T>G (n.844-6T>G) n.1607-6T>G n.1442-6T>G | gnomAD v4 |
| 3 | g.193643522T= | CA1430245044 | OPA1 | c.1378-6T= (n.1378-6T=) c.1213-6T= (n.1213-6T=) c.1324-6T= (n.1324-6T=) c.1267-6T= (n.1267-6T=) c.1152-6T= c.895-6T= (n.895-6T=) c.*1294-6T= (n.*1294-6T=) c.873-6T= c.841-6T= (n.841-6T=) c.1182-6T= c.1228-6T= (n.1228-6T=) c.*691-6T= (n.*691-6T=) c.201-6T= c.1105-6T= (n.1105-6T=) c.1216-6T= (n.1216-6T=) c.1270-6T= (n.1270-6T=) n.409-6T= c.1159-6T= (n.1159-6T=) c.844-6T= (n.844-6T=) n.1607-6T= n.1442-6T= | |
| 3 | g.193643524dup | CA2669104844 | OPA1 | c.1378-4dup (n.1378-4dup) c.1213-4dup (n.1213-4dup) c.1324-4dup (n.1324-4dup) c.1267-4dup (n.1267-4dup) c.1152-4dup c.895-4dup (n.895-4dup) c.*1294-4dup (n.*1294-4dup) c.873-4dup c.841-4dup (n.841-4dup) c.1182-4dup c.1228-4dup (n.1228-4dup) c.*691-4dup (n.*691-4dup) c.201-4dup c.1105-4dup (n.1105-4dup) c.1216-4dup (n.1216-4dup) c.1270-4dup (n.1270-4dup) n.409-4dup c.1159-4dup (n.1159-4dup) c.844-4dup (n.844-4dup) n.1607-4dup n.1442-4dup | gnomAD v4 |
| 3 | g.193643524T>C | CA2759370 | OPA1 | c.1378-4T>C (n.1378-4T>C) c.1213-4T>C (n.1213-4T>C) c.1324-4T>C (n.1324-4T>C) c.1267-4T>C (n.1267-4T>C) c.1152-4T>C c.895-4T>C (n.895-4T>C) c.*1294-4T>C (n.*1294-4T>C) c.873-4T>C c.841-4T>C (n.841-4T>C) c.1182-4T>C c.1228-4T>C (n.1228-4T>C) c.*691-4T>C (n.*691-4T>C) c.201-4T>C c.1105-4T>C (n.1105-4T>C) c.1216-4T>C (n.1216-4T>C) c.1270-4T>C (n.1270-4T>C) n.409-4T>C c.1159-4T>C (n.1159-4T>C) c.844-4T>C (n.844-4T>C) n.1607-4T>C n.1442-4T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.193643524T= | CA1430245048 | OPA1 | c.1378-4T= (n.1378-4T=) c.1213-4T= (n.1213-4T=) c.1324-4T= (n.1324-4T=) c.1267-4T= (n.1267-4T=) c.1152-4T= c.895-4T= (n.895-4T=) c.*1294-4T= (n.*1294-4T=) c.873-4T= c.841-4T= (n.841-4T=) c.1182-4T= c.1228-4T= (n.1228-4T=) c.*691-4T= (n.*691-4T=) c.201-4T= c.1105-4T= (n.1105-4T=) c.1216-4T= (n.1216-4T=) c.1270-4T= (n.1270-4T=) n.409-4T= c.1159-4T= (n.1159-4T=) c.844-4T= (n.844-4T=) n.1607-4T= n.1442-4T= | |
| 3 | g.193643525A= | CA1430245053 | OPA1 | c.1378-3A= (n.1378-3A=) c.1213-3A= (n.1213-3A=) c.1324-3A= (n.1324-3A=) c.1267-3A= (n.1267-3A=) c.1152-3A= c.895-3A= (n.895-3A=) c.*1294-3A= (n.*1294-3A=) c.873-3A= c.841-3A= (n.841-3A=) c.1182-3A= c.1228-3A= (n.1228-3A=) c.*691-3A= (n.*691-3A=) c.201-3A= c.1105-3A= (n.1105-3A=) c.1216-3A= (n.1216-3A=) c.1270-3A= (n.1270-3A=) n.409-3A= c.1159-3A= (n.1159-3A=) c.844-3A= (n.844-3A=) n.1607-3A= n.1442-3A= | |
| 3 | g.193643525A>G | CA548822179 | OPA1 | c.1378-3A>G (n.1378-3A>G) c.1213-3A>G (n.1213-3A>G) c.1324-3A>G (n.1324-3A>G) c.1267-3A>G (n.1267-3A>G) c.1152-3A>G c.895-3A>G (n.895-3A>G) c.*1294-3A>G (n.*1294-3A>G) c.873-3A>G c.841-3A>G (n.841-3A>G) c.1182-3A>G c.1228-3A>G (n.1228-3A>G) c.*691-3A>G (n.*691-3A>G) c.201-3A>G c.1105-3A>G (n.1105-3A>G) c.1216-3A>G (n.1216-3A>G) c.1270-3A>G (n.1270-3A>G) n.409-3A>G c.1159-3A>G (n.1159-3A>G) c.844-3A>G (n.844-3A>G) n.1607-3A>G n.1442-3A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.193643526A>C | CA355789443 | OPA1 | c.1378-2A>C (n.1378-2A>C) c.1213-2A>C (n.1213-2A>C) c.1324-2A>C (n.1324-2A>C) c.1267-2A>C (n.1267-2A>C) c.1152-2A>C c.895-2A>C (n.895-2A>C) c.*1294-2A>C (n.*1294-2A>C) c.873-2A>C c.841-2A>C (n.841-2A>C) c.1182-2A>C c.1228-2A>C (n.1228-2A>C) c.*691-2A>C (n.*691-2A>C) c.201-2A>C c.1105-2A>C (n.1105-2A>C) c.1216-2A>C (n.1216-2A>C) c.1270-2A>C (n.1270-2A>C) n.409-2A>C c.1159-2A>C (n.1159-2A>C) c.844-2A>C (n.844-2A>C) n.1607-2A>C n.1442-2A>C | |
| 3 | g.193643526A>G | CA355789441 | OPA1 | c.1378-2A>G (n.1378-2A>G) c.1213-2A>G (n.1213-2A>G) c.1324-2A>G (n.1324-2A>G) c.1267-2A>G (n.1267-2A>G) c.1152-2A>G c.895-2A>G (n.895-2A>G) c.*1294-2A>G (n.*1294-2A>G) c.873-2A>G c.841-2A>G (n.841-2A>G) c.1182-2A>G c.1228-2A>G (n.1228-2A>G) c.*691-2A>G (n.*691-2A>G) c.201-2A>G c.1105-2A>G (n.1105-2A>G) c.1216-2A>G (n.1216-2A>G) c.1270-2A>G (n.1270-2A>G) n.409-2A>G c.1159-2A>G (n.1159-2A>G) c.844-2A>G (n.844-2A>G) n.1607-2A>G n.1442-2A>G | gnomAD v4 |
| 3 | g.193643526A>T | CA355789442 | OPA1 | c.1378-2A>T (n.1378-2A>T) c.1213-2A>T (n.1213-2A>T) c.1324-2A>T (n.1324-2A>T) c.1267-2A>T (n.1267-2A>T) c.1152-2A>T c.895-2A>T (n.895-2A>T) c.*1294-2A>T (n.*1294-2A>T) c.873-2A>T c.841-2A>T (n.841-2A>T) c.1182-2A>T c.1228-2A>T (n.1228-2A>T) c.*691-2A>T (n.*691-2A>T) c.201-2A>T c.1105-2A>T (n.1105-2A>T) c.1216-2A>T (n.1216-2A>T) c.1270-2A>T (n.1270-2A>T) n.409-2A>T c.1159-2A>T (n.1159-2A>T) c.844-2A>T (n.844-2A>T) n.1607-2A>T n.1442-2A>T | |
| 3 | g.193643527G>A | CA355789444 | OPA1 | c.1378-1G>A (n.1378-1G>A) c.1213-1G>A (n.1213-1G>A) c.1324-1G>A (n.1324-1G>A) c.1267-1G>A (n.1267-1G>A) c.1152-1G>A c.895-1G>A (n.895-1G>A) c.*1294-1G>A (n.*1294-1G>A) c.873-1G>A c.841-1G>A (n.841-1G>A) c.1182-1G>A c.1228-1G>A (n.1228-1G>A) c.*691-1G>A (n.*691-1G>A) c.201-1G>A c.1105-1G>A (n.1105-1G>A) c.1216-1G>A (n.1216-1G>A) c.1270-1G>A (n.1270-1G>A) n.409-1G>A c.1159-1G>A (n.1159-1G>A) c.844-1G>A (n.844-1G>A) n.1607-1G>A n.1442-1G>A | gnomAD v4 |
| 3 | g.193643527G>C | CA355789445 | OPA1 | c.1378-1G>C (n.1378-1G>C) c.1213-1G>C (n.1213-1G>C) c.1324-1G>C (n.1324-1G>C) c.1267-1G>C (n.1267-1G>C) c.1152-1G>C c.895-1G>C (n.895-1G>C) c.*1294-1G>C (n.*1294-1G>C) c.873-1G>C c.841-1G>C (n.841-1G>C) c.1182-1G>C c.1228-1G>C (n.1228-1G>C) c.*691-1G>C (n.*691-1G>C) c.201-1G>C c.1105-1G>C (n.1105-1G>C) c.1216-1G>C (n.1216-1G>C) c.1270-1G>C (n.1270-1G>C) n.409-1G>C c.1159-1G>C (n.1159-1G>C) c.844-1G>C (n.844-1G>C) n.1607-1G>C n.1442-1G>C | gnomAD v4 |
| 3 | g.193643527G>T | CA355789446 | OPA1 | c.1378-1G>T (n.1378-1G>T) c.1213-1G>T (n.1213-1G>T) c.1324-1G>T (n.1324-1G>T) c.1267-1G>T (n.1267-1G>T) c.1152-1G>T c.895-1G>T (n.895-1G>T) c.*1294-1G>T (n.*1294-1G>T) c.873-1G>T c.841-1G>T (n.841-1G>T) c.1182-1G>T c.1228-1G>T (n.1228-1G>T) c.*691-1G>T (n.*691-1G>T) c.201-1G>T c.1105-1G>T (n.1105-1G>T) c.1216-1G>T (n.1216-1G>T) c.1270-1G>T (n.1270-1G>T) n.409-1G>T c.1159-1G>T (n.1159-1G>T) c.844-1G>T (n.844-1G>T) n.1607-1G>T n.1442-1G>T | |
| 3 | g.193643528A>C | CA355789447 | OPA1 | c.1378A>C (p.Thr460Pro) c.1213A>C (p.Thr405Pro) c.1324A>C (p.Thr442Pro) c.1267A>C (p.Thr423Pro) c.1152A>C c.895A>C (p.Thr299Pro) c.*1294A>C (n.*1294A>C) c.873A>C c.841A>C (p.Thr281Pro) c.1182A>C c.1228A>C (p.Thr410Pro) c.*691A>C (n.*691A>C) c.201A>C c.1105A>C (p.Thr369Pro) c.1216A>C (p.Thr406Pro) c.1270A>C (p.Thr424Pro) n.409A>C c.1159A>C (p.Thr387Pro) c.844A>C (p.Thr282Pro) n.1607A>C n.1442A>C | |
| 3 | g.193643528A>G | CA355789448 | OPA1 | c.1378A>G (p.Thr460Ala) c.1213A>G (p.Thr405Ala) c.1324A>G (p.Thr442Ala) c.1267A>G (p.Thr423Ala) c.1152A>G c.895A>G (p.Thr299Ala) c.*1294A>G (n.*1294A>G) c.873A>G c.841A>G (p.Thr281Ala) c.1182A>G c.1228A>G (p.Thr410Ala) c.*691A>G (n.*691A>G) c.201A>G c.1105A>G (p.Thr369Ala) c.1216A>G (p.Thr406Ala) c.1270A>G (p.Thr424Ala) n.409A>G c.1159A>G (p.Thr387Ala) c.844A>G (p.Thr282Ala) n.1607A>G n.1442A>G | |
| 3 | g.193643528A>T | CA355789449 | OPA1 | c.1378A>T (p.Thr460Ser) c.1213A>T (p.Thr405Ser) c.1324A>T (p.Thr442Ser) c.1267A>T (p.Thr423Ser) c.1152A>T c.895A>T (p.Thr299Ser) c.*1294A>T (n.*1294A>T) c.873A>T c.841A>T (p.Thr281Ser) c.1182A>T c.1228A>T (p.Thr410Ser) c.*691A>T (n.*691A>T) c.201A>T c.1105A>T (p.Thr369Ser) c.1216A>T (p.Thr406Ser) c.1270A>T (p.Thr424Ser) n.409A>T c.1159A>T (p.Thr387Ser) c.844A>T (p.Thr282Ser) n.1607A>T n.1442A>T | |
| 3 | g.193643529C>A | CA355789450 | OPA1 | c.1379C>A (p.Thr460Asn) c.1214C>A (p.Thr405Asn) c.1325C>A (p.Thr442Asn) c.1268C>A (p.Thr423Asn) c.1153C>A c.896C>A (p.Thr299Asn) c.*1295C>A (n.*1295C>A) c.874C>A c.842C>A (p.Thr281Asn) c.1183C>A c.1229C>A (p.Thr410Asn) c.*692C>A (n.*692C>A) c.202C>A c.1106C>A (p.Thr369Asn) c.1217C>A (p.Thr406Asn) c.1271C>A (p.Thr424Asn) n.410C>A c.1160C>A (p.Thr387Asn) c.845C>A (p.Thr282Asn) n.1608C>A n.1443C>A | |
| 3 | g.193643529C>G | CA355789452 | OPA1 | c.1379C>G (p.Thr460Ser) c.1214C>G (p.Thr405Ser) c.1325C>G (p.Thr442Ser) c.1268C>G (p.Thr423Ser) c.1153C>G c.896C>G (p.Thr299Ser) c.*1295C>G (n.*1295C>G) c.874C>G c.842C>G (p.Thr281Ser) c.1183C>G c.1229C>G (p.Thr410Ser) c.*692C>G (n.*692C>G) c.202C>G c.1106C>G (p.Thr369Ser) c.1217C>G (p.Thr406Ser) c.1271C>G (p.Thr424Ser) n.410C>G c.1160C>G (p.Thr387Ser) c.845C>G (p.Thr282Ser) n.1608C>G n.1443C>G | |
| 3 | g.193643529C>T | CA355789451 | OPA1 | c.1379C>T (p.Thr460Ile) c.1214C>T (p.Thr405Ile) c.1325C>T (p.Thr442Ile) c.1268C>T (p.Thr423Ile) c.1153C>T c.896C>T (p.Thr299Ile) c.*1295C>T (n.*1295C>T) c.874C>T c.842C>T (p.Thr281Ile) c.1183C>T c.1229C>T (p.Thr410Ile) c.*692C>T (n.*692C>T) c.202C>T c.1106C>T (p.Thr369Ile) c.1217C>T (p.Thr406Ile) c.1271C>T (p.Thr424Ile) n.410C>T c.1160C>T (p.Thr387Ile) c.845C>T (p.Thr282Ile) n.1608C>T n.1443C>T | |
| 3 | g.193643529_193643531delinsT | CA2497028746 | OPA1 | c.1379_1381delinsT (p.Thr460IlefsTer8) c.1214_1216delinsT (p.Thr405IlefsTer8) c.1325_1327delinsT (p.Thr442IlefsTer8) c.1268_1270delinsT (p.Thr423IlefsTer8) c.1153_1155delinsT c.896_898delinsT (p.Thr299IlefsTer8) c.*1295_*1297delinsT (n.*1295_*1297delinsT) c.874_876delinsT c.842_844delinsT (p.Thr281IlefsTer8) c.1183_1185delinsT c.1229_1231delinsT (p.Thr410IlefsTer8) c.*692_*694delinsT (n.*692_*694delinsT) c.202_204delinsT c.1106_1108delinsT (p.Thr369IlefsTer8) c.1217_1219delinsT (p.Thr406IlefsTer8) c.1271_1273delinsT (p.Thr424IlefsTer8) n.410_412delinsT c.1160_1162delinsT (p.Thr387IlefsTer8) c.845_847delinsT (p.Thr282IlefsTer8) n.1608_1610delinsT n.1443_1445delinsT | |
| 3 | g.193643530T>A | CA437436063 | OPA1 | c.1380T>A (p.Thr460=) c.1215T>A (p.Thr405=) c.1326T>A (p.Thr442=) c.1269T>A (p.Thr423=) c.1154T>A c.897T>A (p.Thr299=) c.*1296T>A (n.*1296T>A) c.875T>A c.843T>A (p.Thr281=) c.1184T>A c.1230T>A (p.Thr410=) c.*693T>A (n.*693T>A) c.203T>A c.1107T>A (p.Thr369=) c.1218T>A (p.Thr406=) c.1272T>A (p.Thr424=) n.411T>A c.1161T>A (p.Thr387=) c.846T>A (p.Thr282=) n.1609T>A n.1444T>A | |
| 3 | g.193643530T>C | CA2759371 | OPA1 | c.1380T>C (p.Thr460=) c.1215T>C (p.Thr405=) c.1326T>C (p.Thr442=) c.1269T>C (p.Thr423=) c.1154T>C c.897T>C (p.Thr299=) c.*1296T>C (n.*1296T>C) c.875T>C c.843T>C (p.Thr281=) c.1184T>C c.1230T>C (p.Thr410=) c.*693T>C (n.*693T>C) c.203T>C c.1107T>C (p.Thr369=) c.1218T>C (p.Thr406=) c.1272T>C (p.Thr424=) n.411T>C c.1161T>C (p.Thr387=) c.846T>C (p.Thr282=) n.1609T>C n.1444T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.193643530T>G | CA437436062 | OPA1 | c.1380T>G (p.Thr460=) c.1215T>G (p.Thr405=) c.1326T>G (p.Thr442=) c.1269T>G (p.Thr423=) c.1154T>G c.897T>G (p.Thr299=) c.*1296T>G (n.*1296T>G) c.875T>G c.843T>G (p.Thr281=) c.1184T>G c.1230T>G (p.Thr410=) c.*693T>G (n.*693T>G) c.203T>G c.1107T>G (p.Thr369=) c.1218T>G (p.Thr406=) c.1272T>G (p.Thr424=) n.411T>G c.1161T>G (p.Thr387=) c.846T>G (p.Thr282=) n.1609T>G n.1444T>G | |
| 3 | g.193643530T= | CA1430245059 | OPA1 | c.1380T= (p.Thr460=) c.1215T= (p.Thr405=) c.1326T= (p.Thr442=) c.1269T= (p.Thr423=) c.1154T= c.897T= (p.Thr299=) c.*1296T= (n.*1296T=) c.875T= c.843T= (p.Thr281=) c.1184T= c.1230T= (p.Thr410=) c.*693T= (n.*693T=) c.203T= c.1107T= (p.Thr369=) c.1218T= (p.Thr406=) c.1272T= (p.Thr424=) n.411T= c.1161T= (p.Thr387=) c.846T= (p.Thr282=) n.1609T= n.1444T= | |
| 3 | g.193643532_193643533del | CA2580616036 | OPA1 | c.1382_1383del (p.Val461AspfsTer7) c.1217_1218del (p.Val406AspfsTer7) c.1328_1329del (p.Val443AspfsTer7) c.1271_1272del (p.Val424AspfsTer7) c.1156_1157del c.899_900del (p.Val300AspfsTer7) c.*1298_*1299del (n.*1298_*1299del) c.877_878del c.845_846del (p.Val282AspfsTer7) c.1186_1187del c.1232_1233del (p.Val411AspfsTer7) c.*695_*696del (n.*695_*696del) c.205_206del c.1109_1110del (p.Val370AspfsTer7) c.1220_1221del (p.Val407AspfsTer7) c.1274_1275del (p.Val425AspfsTer7) n.413_414del c.1163_1164del (p.Val388AspfsTer7) c.848_849del (p.Val283AspfsTer7) n.1611_1612del n.1446_1447del | ClinVar dbSNP |
| 3 | g.193643531G>A | CA355789453 | OPA1 | c.1381G>A (p.Val461Met) c.1216G>A (p.Val406Met) c.1327G>A (p.Val443Met) c.1270G>A (p.Val424Met) c.1155G>A c.898G>A (p.Val300Met) c.*1297G>A (n.*1297G>A) c.876G>A c.844G>A (p.Val282Met) c.1185G>A c.1231G>A (p.Val411Met) c.*694G>A (n.*694G>A) c.204G>A c.1108G>A (p.Val370Met) c.1219G>A (p.Val407Met) c.1273G>A (p.Val425Met) n.412G>A c.1162G>A (p.Val388Met) c.847G>A (p.Val283Met) n.1610G>A n.1445G>A | |
| 3 | g.193643531G>C | CA355789454 | OPA1 | c.1381G>C (p.Val461Leu) c.1216G>C (p.Val406Leu) c.1327G>C (p.Val443Leu) c.1270G>C (p.Val424Leu) c.1155G>C c.898G>C (p.Val300Leu) c.*1297G>C (n.*1297G>C) c.876G>C c.844G>C (p.Val282Leu) c.1185G>C c.1231G>C (p.Val411Leu) c.*694G>C (n.*694G>C) c.204G>C c.1108G>C (p.Val370Leu) c.1219G>C (p.Val407Leu) c.1273G>C (p.Val425Leu) n.412G>C c.1162G>C (p.Val388Leu) c.847G>C (p.Val283Leu) n.1610G>C n.1445G>C | |
| 3 | g.193643531G>T | CA355789455 | OPA1 | c.1381G>T (p.Val461Leu) c.1216G>T (p.Val406Leu) c.1327G>T (p.Val443Leu) c.1270G>T (p.Val424Leu) c.1155G>T c.898G>T (p.Val300Leu) c.*1297G>T (n.*1297G>T) c.876G>T c.844G>T (p.Val282Leu) c.1185G>T c.1231G>T (p.Val411Leu) c.*694G>T (n.*694G>T) c.204G>T c.1108G>T (p.Val370Leu) c.1219G>T (p.Val407Leu) c.1273G>T (p.Val425Leu) n.412G>T c.1162G>T (p.Val388Leu) c.847G>T (p.Val283Leu) n.1610G>T n.1445G>T | |
| 3 | g.193643532T>A | CA355789456 | OPA1 | c.1382T>A (p.Val461Glu) c.1217T>A (p.Val406Glu) c.1328T>A (p.Val443Glu) c.1271T>A (p.Val424Glu) c.1156T>A c.899T>A (p.Val300Glu) c.*1298T>A (n.*1298T>A) c.877T>A c.845T>A (p.Val282Glu) c.1186T>A c.1232T>A (p.Val411Glu) c.*695T>A (n.*695T>A) c.205T>A c.1109T>A (p.Val370Glu) c.1220T>A (p.Val407Glu) c.1274T>A (p.Val425Glu) n.413T>A c.1163T>A (p.Val388Glu) c.848T>A (p.Val283Glu) n.1611T>A n.1446T>A | |
| 3 | g.193643532T>C | CA355789457 | OPA1 | c.1382T>C (p.Val461Ala) c.1217T>C (p.Val406Ala) c.1328T>C (p.Val443Ala) c.1271T>C (p.Val424Ala) c.1156T>C c.899T>C (p.Val300Ala) c.*1298T>C (n.*1298T>C) c.877T>C c.845T>C (p.Val282Ala) c.1186T>C c.1232T>C (p.Val411Ala) c.*695T>C (n.*695T>C) c.205T>C c.1109T>C (p.Val370Ala) c.1220T>C (p.Val407Ala) c.1274T>C (p.Val425Ala) n.413T>C c.1163T>C (p.Val388Ala) c.848T>C (p.Val283Ala) n.1611T>C n.1446T>C | |
| 3 | g.193643532T>G | CA355789458 | OPA1 | c.1382T>G (p.Val461Gly) c.1217T>G (p.Val406Gly) c.1328T>G (p.Val443Gly) c.1271T>G (p.Val424Gly) c.1156T>G c.899T>G (p.Val300Gly) c.*1298T>G (n.*1298T>G) c.877T>G c.845T>G (p.Val282Gly) c.1186T>G c.1232T>G (p.Val411Gly) c.*695T>G (n.*695T>G) c.205T>G c.1109T>G (p.Val370Gly) c.1220T>G (p.Val407Gly) c.1274T>G (p.Val425Gly) n.413T>G c.1163T>G (p.Val388Gly) c.848T>G (p.Val283Gly) n.1611T>G n.1446T>G | |
| 3 | g.193643533G>A | CA437436064 | OPA1 | c.1383G>A (p.Val461=) c.1218G>A (p.Val406=) c.1329G>A (p.Val443=) c.1272G>A (p.Val424=) c.1157G>A c.900G>A (p.Val300=) c.*1299G>A (n.*1299G>A) c.878G>A c.846G>A (p.Val282=) c.1187G>A c.1233G>A (p.Val411=) c.*696G>A (n.*696G>A) c.206G>A c.1110G>A (p.Val370=) c.1221G>A (p.Val407=) c.1275G>A (p.Val425=) n.414G>A c.1164G>A (p.Val388=) c.849G>A (p.Val283=) n.1612G>A n.1447G>A | ClinVar |
| 3 | g.193643533G>C | CA437436065 | OPA1 | c.1383G>C (p.Val461=) c.1218G>C (p.Val406=) c.1329G>C (p.Val443=) c.1272G>C (p.Val424=) c.1157G>C c.900G>C (p.Val300=) c.*1299G>C (n.*1299G>C) c.878G>C c.846G>C (p.Val282=) c.1187G>C c.1233G>C (p.Val411=) c.*696G>C (n.*696G>C) c.206G>C c.1110G>C (p.Val370=) c.1221G>C (p.Val407=) c.1275G>C (p.Val425=) n.414G>C c.1164G>C (p.Val388=) c.849G>C (p.Val283=) n.1612G>C n.1447G>C | |
| 3 | g.193643533G>T | CA437436066 | OPA1 | c.1383G>T (p.Val461=) c.1218G>T (p.Val406=) c.1329G>T (p.Val443=) c.1272G>T (p.Val424=) c.1157G>T c.900G>T (p.Val300=) c.*1299G>T (n.*1299G>T) c.878G>T c.846G>T (p.Val282=) c.1187G>T c.1233G>T (p.Val411=) c.*696G>T (n.*696G>T) c.206G>T c.1110G>T (p.Val370=) c.1221G>T (p.Val407=) c.1275G>T (p.Val425=) n.414G>T c.1164G>T (p.Val388=) c.849G>T (p.Val283=) n.1612G>T n.1447G>T | |
| 3 | g.193643534A>C | CA355789459 | OPA1 | c.1384A>C (p.Thr462Pro) c.1219A>C (p.Thr407Pro) c.1330A>C (p.Thr444Pro) c.1273A>C (p.Thr425Pro) c.1158A>C c.901A>C (p.Thr301Pro) c.*1300A>C (n.*1300A>C) c.879A>C c.847A>C (p.Thr283Pro) c.1188A>C c.1234A>C (p.Thr412Pro) c.*697A>C (n.*697A>C) c.207A>C c.1111A>C (p.Thr371Pro) c.1222A>C (p.Thr408Pro) c.1276A>C (p.Thr426Pro) n.415A>C c.1165A>C (p.Thr389Pro) c.850A>C (p.Thr284Pro) n.1613A>C n.1448A>C | |
| 3 | g.193643534A>G | CA355789460 | OPA1 | c.1384A>G (p.Thr462Ala) c.1219A>G (p.Thr407Ala) c.1330A>G (p.Thr444Ala) c.1273A>G (p.Thr425Ala) c.1158A>G c.901A>G (p.Thr301Ala) c.*1300A>G (n.*1300A>G) c.879A>G c.847A>G (p.Thr283Ala) c.1188A>G c.1234A>G (p.Thr412Ala) c.*697A>G (n.*697A>G) c.207A>G c.1111A>G (p.Thr371Ala) c.1222A>G (p.Thr408Ala) c.1276A>G (p.Thr426Ala) n.415A>G c.1165A>G (p.Thr389Ala) c.850A>G (p.Thr284Ala) n.1613A>G n.1448A>G | COSMIC |
| 3 | g.193643534A>T | CA355789461 | OPA1 | c.1384A>T (p.Thr462Ser) c.1219A>T (p.Thr407Ser) c.1330A>T (p.Thr444Ser) c.1273A>T (p.Thr425Ser) c.1158A>T c.901A>T (p.Thr301Ser) c.*1300A>T (n.*1300A>T) c.879A>T c.847A>T (p.Thr283Ser) c.1188A>T c.1234A>T (p.Thr412Ser) c.*697A>T (n.*697A>T) c.207A>T c.1111A>T (p.Thr371Ser) c.1222A>T (p.Thr408Ser) c.1276A>T (p.Thr426Ser) n.415A>T c.1165A>T (p.Thr389Ser) c.850A>T (p.Thr284Ser) n.1613A>T n.1448A>T | |
| 3 | g.193643535C>A | CA355789462 | OPA1 | c.1385C>A (p.Thr462Lys) c.1220C>A (p.Thr407Lys) c.1331C>A (p.Thr444Lys) c.1274C>A (p.Thr425Lys) c.1159C>A c.902C>A (p.Thr301Lys) c.*1301C>A (n.*1301C>A) c.880C>A c.848C>A (p.Thr283Lys) c.1189C>A c.1235C>A (p.Thr412Lys) c.*698C>A (n.*698C>A) c.208C>A c.1112C>A (p.Thr371Lys) c.1223C>A (p.Thr408Lys) c.1277C>A (p.Thr426Lys) n.416C>A c.1166C>A (p.Thr389Lys) c.851C>A (p.Thr284Lys) n.1614C>A n.1449C>A | |
| 3 | g.193643535C>G | CA355789463 | OPA1 | c.1385C>G (p.Thr462Arg) c.1220C>G (p.Thr407Arg) c.1331C>G (p.Thr444Arg) c.1274C>G (p.Thr425Arg) c.1159C>G c.902C>G (p.Thr301Arg) c.*1301C>G (n.*1301C>G) c.880C>G c.848C>G (p.Thr283Arg) c.1189C>G c.1235C>G (p.Thr412Arg) c.*698C>G (n.*698C>G) c.208C>G c.1112C>G (p.Thr371Arg) c.1223C>G (p.Thr408Arg) c.1277C>G (p.Thr426Arg) n.416C>G c.1166C>G (p.Thr389Arg) c.851C>G (p.Thr284Arg) n.1614C>G n.1449C>G | |
| 3 | g.193643535C>T | CA355789464 | OPA1 | c.1385C>T (p.Thr462Ile) c.1220C>T (p.Thr407Ile) c.1331C>T (p.Thr444Ile) c.1274C>T (p.Thr425Ile) c.1159C>T c.902C>T (p.Thr301Ile) c.*1301C>T (n.*1301C>T) c.880C>T c.848C>T (p.Thr283Ile) c.1189C>T c.1235C>T (p.Thr412Ile) c.*698C>T (n.*698C>T) c.208C>T c.1112C>T (p.Thr371Ile) c.1223C>T (p.Thr408Ile) c.1277C>T (p.Thr426Ile) n.416C>T c.1166C>T (p.Thr389Ile) c.851C>T (p.Thr284Ile) n.1614C>T n.1449C>T | |
| 3 | g.193643536A>C | CA437436067 | OPA1 | c.1386A>C (p.Thr462=) c.1221A>C (p.Thr407=) c.1332A>C (p.Thr444=) c.1275A>C (p.Thr425=) c.1160A>C c.903A>C (p.Thr301=) c.*1302A>C (n.*1302A>C) c.881A>C c.849A>C (p.Thr283=) c.1190A>C c.1236A>C (p.Thr412=) c.*699A>C (n.*699A>C) c.209A>C c.1113A>C (p.Thr371=) c.1224A>C (p.Thr408=) c.1278A>C (p.Thr426=) n.417A>C c.1167A>C (p.Thr389=) c.852A>C (p.Thr284=) n.1615A>C n.1450A>C | |
| 3 | g.193643536A>G | CA437436068 | OPA1 | c.1386A>G (p.Thr462=) c.1221A>G (p.Thr407=) c.1332A>G (p.Thr444=) c.1275A>G (p.Thr425=) c.1160A>G c.903A>G (p.Thr301=) c.*1302A>G (n.*1302A>G) c.881A>G c.849A>G (p.Thr283=) c.1190A>G c.1236A>G (p.Thr412=) c.*699A>G (n.*699A>G) c.209A>G c.1113A>G (p.Thr371=) c.1224A>G (p.Thr408=) c.1278A>G (p.Thr426=) n.417A>G c.1167A>G (p.Thr389=) c.852A>G (p.Thr284=) n.1615A>G n.1450A>G | |
| 3 | g.193643536A>T | CA437436069 | OPA1 | c.1386A>T (p.Thr462=) c.1221A>T (p.Thr407=) c.1332A>T (p.Thr444=) c.1275A>T (p.Thr425=) c.1160A>T c.903A>T (p.Thr301=) c.*1302A>T (n.*1302A>T) c.881A>T c.849A>T (p.Thr283=) c.1190A>T c.1236A>T (p.Thr412=) c.*699A>T (n.*699A>T) c.209A>T c.1113A>T (p.Thr371=) c.1224A>T (p.Thr408=) c.1278A>T (p.Thr426=) n.417A>T c.1167A>T (p.Thr389=) c.852A>T (p.Thr284=) n.1615A>T n.1450A>T | |
| 3 | g.193643537T>A | CA355789465 | OPA1 | c.1387T>A (p.Ser463Thr) c.1222T>A (p.Ser408Thr) c.1333T>A (p.Ser445Thr) c.1276T>A (p.Ser426Thr) c.1161T>A c.904T>A (p.Ser302Thr) c.*1303T>A (n.*1303T>A) c.882T>A c.850T>A (p.Ser284Thr) c.1191T>A c.1237T>A (p.Ser413Thr) c.*700T>A (n.*700T>A) c.210T>A c.1114T>A (p.Ser372Thr) c.1225T>A (p.Ser409Thr) c.1279T>A (p.Ser427Thr) n.418T>A c.1168T>A (p.Ser390Thr) c.853T>A (p.Ser285Thr) n.1616T>A n.1451T>A | |
| 3 | g.193643537T>C | CA355789467 | OPA1 | c.1387T>C (p.Ser463Pro) c.1222T>C (p.Ser408Pro) c.1333T>C (p.Ser445Pro) c.1276T>C (p.Ser426Pro) c.1161T>C c.904T>C (p.Ser302Pro) c.*1303T>C (n.*1303T>C) c.882T>C c.850T>C (p.Ser284Pro) c.1191T>C c.1237T>C (p.Ser413Pro) c.*700T>C (n.*700T>C) c.210T>C c.1114T>C (p.Ser372Pro) c.1225T>C (p.Ser409Pro) c.1279T>C (p.Ser427Pro) n.418T>C c.1168T>C (p.Ser390Pro) c.853T>C (p.Ser285Pro) n.1616T>C n.1451T>C | |
| 3 | g.193643537T>G | CA355789466 | OPA1 | c.1387T>G (p.Ser463Ala) c.1222T>G (p.Ser408Ala) c.1333T>G (p.Ser445Ala) c.1276T>G (p.Ser426Ala) c.1161T>G c.904T>G (p.Ser302Ala) c.*1303T>G (n.*1303T>G) c.882T>G c.850T>G (p.Ser284Ala) c.1191T>G c.1237T>G (p.Ser413Ala) c.*700T>G (n.*700T>G) c.210T>G c.1114T>G (p.Ser372Ala) c.1225T>G (p.Ser409Ala) c.1279T>G (p.Ser427Ala) n.418T>G c.1168T>G (p.Ser390Ala) c.853T>G (p.Ser285Ala) n.1616T>G n.1451T>G | |
| 3 | g.193643538C>A | CA355789468 | OPA1 | c.1388C>A (p.Ser463Ter) c.1223C>A (p.Ser408Ter) c.1334C>A (p.Ser445Ter) c.1277C>A (p.Ser426Ter) c.1162C>A c.905C>A (p.Ser302Ter) c.*1304C>A (n.*1304C>A) c.883C>A c.851C>A (p.Ser284Ter) c.1192C>A c.1238C>A (p.Ser413Ter) c.*701C>A (n.*701C>A) c.211C>A c.1115C>A (p.Ser372Ter) c.1226C>A (p.Ser409Ter) c.1280C>A (p.Ser427Ter) n.419C>A c.1169C>A (p.Ser390Ter) c.854C>A (p.Ser285Ter) n.1617C>A n.1452C>A | |
| 3 | g.193643538C= | CA1430245061 | OPA1 | c.1388C= (p.Ser463=) c.1223C= (p.Ser408=) c.1334C= (p.Ser445=) c.1277C= (p.Ser426=) c.1162C= c.905C= (p.Ser302=) c.*1304C= (n.*1304C=) c.883C= c.851C= (p.Ser284=) c.1192C= c.1238C= (p.Ser413=) c.*701C= (n.*701C=) c.211C= c.1115C= (p.Ser372=) c.1226C= (p.Ser409=) c.1280C= (p.Ser427=) n.419C= c.1169C= (p.Ser390=) c.854C= (p.Ser285=) n.1617C= n.1452C= | |
| 3 | g.193643538C>G | CA355789469 | OPA1 | c.1388C>G (p.Ser463Ter) c.1223C>G (p.Ser408Ter) c.1334C>G (p.Ser445Ter) c.1277C>G (p.Ser426Ter) c.1162C>G c.905C>G (p.Ser302Ter) c.*1304C>G (n.*1304C>G) c.883C>G c.851C>G (p.Ser284Ter) c.1192C>G c.1238C>G (p.Ser413Ter) c.*701C>G (n.*701C>G) c.211C>G c.1115C>G (p.Ser372Ter) c.1226C>G (p.Ser409Ter) c.1280C>G (p.Ser427Ter) n.419C>G c.1169C>G (p.Ser390Ter) c.854C>G (p.Ser285Ter) n.1617C>G n.1452C>G | |
| 3 | g.193643538C>T | CA355789470 | OPA1 | c.1388C>T (p.Ser463Leu) c.1223C>T (p.Ser408Leu) c.1334C>T (p.Ser445Leu) c.1277C>T (p.Ser426Leu) c.1162C>T c.905C>T (p.Ser302Leu) c.*1304C>T (n.*1304C>T) c.883C>T c.851C>T (p.Ser284Leu) c.1192C>T c.1238C>T (p.Ser413Leu) c.*701C>T (n.*701C>T) c.211C>T c.1115C>T (p.Ser372Leu) c.1226C>T (p.Ser409Leu) c.1280C>T (p.Ser427Leu) n.419C>T c.1169C>T (p.Ser390Leu) c.854C>T (p.Ser285Leu) n.1617C>T n.1452C>T | |
| 3 | g.193643539A>C | CA437436070 | OPA1 | c.1389A>C (p.Ser463=) c.1224A>C (p.Ser408=) c.1335A>C (p.Ser445=) c.1278A>C (p.Ser426=) c.1163A>C c.906A>C (p.Ser302=) c.*1305A>C (n.*1305A>C) c.884A>C c.852A>C (p.Ser284=) c.1193A>C c.1239A>C (p.Ser413=) c.*702A>C (n.*702A>C) c.212A>C c.1116A>C (p.Ser372=) c.1227A>C (p.Ser409=) c.1281A>C (p.Ser427=) n.420A>C c.1170A>C (p.Ser390=) c.855A>C (p.Ser285=) n.1618A>C n.1453A>C | |
| 3 | g.193643539A>G | CA437436071 | OPA1 | c.1389A>G (p.Ser463=) c.1224A>G (p.Ser408=) c.1335A>G (p.Ser445=) c.1278A>G (p.Ser426=) c.1163A>G c.906A>G (p.Ser302=) c.*1305A>G (n.*1305A>G) c.884A>G c.852A>G (p.Ser284=) c.1193A>G c.1239A>G (p.Ser413=) c.*702A>G (n.*702A>G) c.212A>G c.1116A>G (p.Ser372=) c.1227A>G (p.Ser409=) c.1281A>G (p.Ser427=) n.420A>G c.1170A>G (p.Ser390=) c.855A>G (p.Ser285=) n.1618A>G n.1453A>G | gnomAD v4 |
| 3 | g.193643539A>T | CA437436072 | OPA1 | c.1389A>T (p.Ser463=) c.1224A>T (p.Ser408=) c.1335A>T (p.Ser445=) c.1278A>T (p.Ser426=) c.1163A>T c.906A>T (p.Ser302=) c.*1305A>T (n.*1305A>T) c.884A>T c.852A>T (p.Ser284=) c.1193A>T c.1239A>T (p.Ser413=) c.*702A>T (n.*702A>T) c.212A>T c.1116A>T (p.Ser372=) c.1227A>T (p.Ser409=) c.1281A>T (p.Ser427=) n.420A>T c.1170A>T (p.Ser390=) c.855A>T (p.Ser285=) n.1618A>T n.1453A>T | |
| 3 | g.193643539dup | CA658796408 | OPA1 | c.1389dup (p.Gly464ArgfsTer5) c.1224dup (p.Gly409ArgfsTer5) c.1335dup (p.Gly446ArgfsTer5) c.1278dup (p.Gly427ArgfsTer5) c.1163dup c.906dup (p.Gly303ArgfsTer5) c.*1305dup (n.*1305dup) c.884dup c.852dup (p.Gly285ArgfsTer5) c.1193dup c.1239dup (p.Gly414ArgfsTer5) c.*702dup (n.*702dup) c.212dup c.1116dup (p.Gly373ArgfsTer5) c.1227dup (p.Gly410ArgfsTer5) c.1281dup (p.Gly428ArgfsTer5) n.420dup c.1170dup (p.Gly391ArgfsTer5) c.855dup (p.Gly286ArgfsTer5) n.1618dup n.1453dup | ClinVar dbSNP |
| 3 | g.193643540G>A | CA355789471 | OPA1 | c.1390G>A (p.Gly464Ser) c.1225G>A (p.Gly409Ser) c.1336G>A (p.Gly446Ser) c.1279G>A (p.Gly427Ser) c.1164G>A c.907G>A (p.Gly303Ser) c.*1306G>A (n.*1306G>A) c.885G>A c.853G>A (p.Gly285Ser) c.1194G>A c.1240G>A (p.Gly414Ser) c.*703G>A (n.*703G>A) c.213G>A c.1117G>A (p.Gly373Ser) c.1228G>A (p.Gly410Ser) c.1282G>A (p.Gly428Ser) n.421G>A c.1171G>A (p.Gly391Ser) c.856G>A (p.Gly286Ser) n.1619G>A n.1454G>A | |
| 3 | g.193643540G>C | CA355789472 | OPA1 | c.1390G>C (p.Gly464Arg) c.1225G>C (p.Gly409Arg) c.1336G>C (p.Gly446Arg) c.1279G>C (p.Gly427Arg) c.1164G>C c.907G>C (p.Gly303Arg) c.*1306G>C (n.*1306G>C) c.885G>C c.853G>C (p.Gly285Arg) c.1194G>C c.1240G>C (p.Gly414Arg) c.*703G>C (n.*703G>C) c.213G>C c.1117G>C (p.Gly373Arg) c.1228G>C (p.Gly410Arg) c.1282G>C (p.Gly428Arg) n.421G>C c.1171G>C (p.Gly391Arg) c.856G>C (p.Gly286Arg) n.1619G>C n.1454G>C | |
| 3 | g.193643540G>T | CA355789473 | OPA1 | c.1390G>T (p.Gly464Cys) c.1225G>T (p.Gly409Cys) c.1336G>T (p.Gly446Cys) c.1279G>T (p.Gly427Cys) c.1164G>T c.907G>T (p.Gly303Cys) c.*1306G>T (n.*1306G>T) c.885G>T c.853G>T (p.Gly285Cys) c.1194G>T c.1240G>T (p.Gly414Cys) c.*703G>T (n.*703G>T) c.213G>T c.1117G>T (p.Gly373Cys) c.1228G>T (p.Gly410Cys) c.1282G>T (p.Gly428Cys) n.421G>T c.1171G>T (p.Gly391Cys) c.856G>T (p.Gly286Cys) n.1619G>T n.1454G>T | |
| 3 | g.193643541G>A | CA2759372 | OPA1 | c.1391G>A (p.Gly464Asp) c.1226G>A (p.Gly409Asp) c.1337G>A (p.Gly446Asp) c.1280G>A (p.Gly427Asp) c.1165G>A c.908G>A (p.Gly303Asp) c.*1307G>A (n.*1307G>A) c.886G>A c.854G>A (p.Gly285Asp) c.1195G>A c.1241G>A (p.Gly414Asp) c.*704G>A (n.*704G>A) c.214G>A c.1118G>A (p.Gly373Asp) c.1229G>A (p.Gly410Asp) c.1283G>A (p.Gly428Asp) n.422G>A c.1172G>A (p.Gly391Asp) c.857G>A (p.Gly286Asp) n.1620G>A n.1455G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193643541G>C | CA355789474 | OPA1 | c.1391G>C (p.Gly464Ala) c.1226G>C (p.Gly409Ala) c.1337G>C (p.Gly446Ala) c.1280G>C (p.Gly427Ala) c.1165G>C c.908G>C (p.Gly303Ala) c.*1307G>C (n.*1307G>C) c.886G>C c.854G>C (p.Gly285Ala) c.1195G>C c.1241G>C (p.Gly414Ala) c.*704G>C (n.*704G>C) c.214G>C c.1118G>C (p.Gly373Ala) c.1229G>C (p.Gly410Ala) c.1283G>C (p.Gly428Ala) n.422G>C c.1172G>C (p.Gly391Ala) c.857G>C (p.Gly286Ala) n.1620G>C n.1455G>C | |
| 3 | g.193643541G= | CA1430245072 | OPA1 | c.1391G= (p.Gly464=) c.1226G= (p.Gly409=) c.1337G= (p.Gly446=) c.1280G= (p.Gly427=) c.1165G= c.908G= (p.Gly303=) c.*1307G= (n.*1307G=) c.886G= c.854G= (p.Gly285=) c.1195G= c.1241G= (p.Gly414=) c.*704G= (n.*704G=) c.214G= c.1118G= (p.Gly373=) c.1229G= (p.Gly410=) c.1283G= (p.Gly428=) n.422G= c.1172G= (p.Gly391=) c.857G= (p.Gly286=) n.1620G= n.1455G= | |
| 3 | g.193643541G>T | CA355789475 | OPA1 | c.1391G>T (p.Gly464Val) c.1226G>T (p.Gly409Val) c.1337G>T (p.Gly446Val) c.1280G>T (p.Gly427Val) c.1165G>T c.908G>T (p.Gly303Val) c.*1307G>T (n.*1307G>T) c.886G>T c.854G>T (p.Gly285Val) c.1195G>T c.1241G>T (p.Gly414Val) c.*704G>T (n.*704G>T) c.214G>T c.1118G>T (p.Gly373Val) c.1229G>T (p.Gly410Val) c.1283G>T (p.Gly428Val) n.422G>T c.1172G>T (p.Gly391Val) c.857G>T (p.Gly286Val) n.1620G>T n.1455G>T | |
| 3 | g.193643542C>A | CA437436073 | OPA1 | c.1392C>A (p.Gly464=) c.1227C>A (p.Gly409=) c.1338C>A (p.Gly446=) c.1281C>A (p.Gly427=) c.1166C>A c.909C>A (p.Gly303=) c.*1308C>A (n.*1308C>A) c.887C>A c.855C>A (p.Gly285=) c.1196C>A c.1242C>A (p.Gly414=) c.*705C>A (n.*705C>A) c.215C>A c.1119C>A (p.Gly373=) c.1230C>A (p.Gly410=) c.1284C>A (p.Gly428=) n.423C>A c.1173C>A (p.Gly391=) c.858C>A (p.Gly286=) n.1621C>A n.1456C>A | |
| 3 | g.193643542C= | CA1430245074 | OPA1 | c.1392C= (p.Gly464=) c.1227C= (p.Gly409=) c.1338C= (p.Gly446=) c.1281C= (p.Gly427=) c.1166C= c.909C= (p.Gly303=) c.*1308C= (n.*1308C=) c.887C= c.855C= (p.Gly285=) c.1196C= c.1242C= (p.Gly414=) c.*705C= (n.*705C=) c.215C= c.1119C= (p.Gly373=) c.1230C= (p.Gly410=) c.1284C= (p.Gly428=) n.423C= c.1173C= (p.Gly391=) c.858C= (p.Gly286=) n.1621C= n.1456C= | |
| 3 | g.193643542C>G | CA90532421 | OPA1 | c.1392C>G (p.Gly464=) c.1227C>G (p.Gly409=) c.1338C>G (p.Gly446=) c.1281C>G (p.Gly427=) c.1166C>G c.909C>G (p.Gly303=) c.*1308C>G (n.*1308C>G) c.887C>G c.855C>G (p.Gly285=) c.1196C>G c.1242C>G (p.Gly414=) c.*705C>G (n.*705C>G) c.215C>G c.1119C>G (p.Gly373=) c.1230C>G (p.Gly410=) c.1284C>G (p.Gly428=) n.423C>G c.1173C>G (p.Gly391=) c.858C>G (p.Gly286=) n.1621C>G n.1456C>G | dbSNP |
| 3 | g.193643542C>T | CA437436074 | OPA1 | c.1392C>T (p.Gly464=) c.1227C>T (p.Gly409=) c.1338C>T (p.Gly446=) c.1281C>T (p.Gly427=) c.1166C>T c.909C>T (p.Gly303=) c.*1308C>T (n.*1308C>T) c.887C>T c.855C>T (p.Gly285=) c.1196C>T c.1242C>T (p.Gly414=) c.*705C>T (n.*705C>T) c.215C>T c.1119C>T (p.Gly373=) c.1230C>T (p.Gly410=) c.1284C>T (p.Gly428=) n.423C>T c.1173C>T (p.Gly391=) c.858C>T (p.Gly286=) n.1621C>T n.1456C>T | |
| 3 | g.193643542dup | CA2586973455 | OPA1 | c.1392dup (p.Met465HisfsTer4) c.1227dup (p.Met410HisfsTer4) c.1338dup (p.Met447HisfsTer4) c.1281dup (p.Met428HisfsTer4) c.1166dup c.909dup (p.Met304HisfsTer4) c.*1308dup (n.*1308dup) c.887dup c.855dup (p.Met286HisfsTer4) c.1196dup c.1242dup (p.Met415HisfsTer4) c.*705dup (n.*705dup) c.215dup c.1119dup (p.Met374HisfsTer4) c.1230dup (p.Met411HisfsTer4) c.1284dup (p.Met429HisfsTer4) n.423dup c.1173dup (p.Met392HisfsTer4) c.858dup (p.Met287HisfsTer4) n.1621dup n.1456dup | |
| 3 | g.193643543A>C | CA355789476 | OPA1 | c.1393A>C (p.Met465Leu) c.1228A>C (p.Met410Leu) c.1339A>C (p.Met447Leu) c.1282A>C (p.Met428Leu) c.1167A>C c.910A>C (p.Met304Leu) c.*1309A>C (n.*1309A>C) c.888A>C c.856A>C (p.Met286Leu) c.1197A>C c.1243A>C (p.Met415Leu) c.*706A>C (n.*706A>C) c.216A>C c.1120A>C (p.Met374Leu) c.1231A>C (p.Met411Leu) c.1285A>C (p.Met429Leu) n.424A>C c.1174A>C (p.Met392Leu) c.859A>C (p.Met287Leu) n.1622A>C n.1457A>C | |
| 3 | g.193643543A>G | CA355789477 | OPA1 | c.1393A>G (p.Met465Val) c.1228A>G (p.Met410Val) c.1339A>G (p.Met447Val) c.1282A>G (p.Met428Val) c.1167A>G c.910A>G (p.Met304Val) c.*1309A>G (n.*1309A>G) c.888A>G c.856A>G (p.Met286Val) c.1197A>G c.1243A>G (p.Met415Val) c.*706A>G (n.*706A>G) c.216A>G c.1120A>G (p.Met374Val) c.1231A>G (p.Met411Val) c.1285A>G (p.Met429Val) n.424A>G c.1174A>G (p.Met392Val) c.859A>G (p.Met287Val) n.1622A>G n.1457A>G | |
| 3 | g.193643543A>T | CA355789478 | OPA1 | c.1393A>T (p.Met465Leu) c.1228A>T (p.Met410Leu) c.1339A>T (p.Met447Leu) c.1282A>T (p.Met428Leu) c.1167A>T c.910A>T (p.Met304Leu) c.*1309A>T (n.*1309A>T) c.888A>T c.856A>T (p.Met286Leu) c.1197A>T c.1243A>T (p.Met415Leu) c.*706A>T (n.*706A>T) c.216A>T c.1120A>T (p.Met374Leu) c.1231A>T (p.Met411Leu) c.1285A>T (p.Met429Leu) n.424A>T c.1174A>T (p.Met392Leu) c.859A>T (p.Met287Leu) n.1622A>T n.1457A>T | |
| 3 | g.193643544T>A | CA355789480 | OPA1 | c.1394T>A (p.Met465Lys) c.1229T>A (p.Met410Lys) c.1340T>A (p.Met447Lys) c.1283T>A (p.Met428Lys) c.1168T>A c.911T>A (p.Met304Lys) c.*1310T>A (n.*1310T>A) c.889T>A c.857T>A (p.Met286Lys) c.1198T>A c.1244T>A (p.Met415Lys) c.*707T>A (n.*707T>A) c.217T>A c.1121T>A (p.Met374Lys) c.1232T>A (p.Met411Lys) c.1286T>A (p.Met429Lys) n.425T>A c.1175T>A (p.Met392Lys) c.860T>A (p.Met287Lys) n.1623T>A n.1458T>A | |
| 3 | g.193643544T>C | CA355789481 | OPA1 | c.1394T>C (p.Met465Thr) c.1229T>C (p.Met410Thr) c.1340T>C (p.Met447Thr) c.1283T>C (p.Met428Thr) c.1168T>C c.911T>C (p.Met304Thr) c.*1310T>C (n.*1310T>C) c.889T>C c.857T>C (p.Met286Thr) c.1198T>C c.1244T>C (p.Met415Thr) c.*707T>C (n.*707T>C) c.217T>C c.1121T>C (p.Met374Thr) c.1232T>C (p.Met411Thr) c.1286T>C (p.Met429Thr) n.425T>C c.1175T>C (p.Met392Thr) c.860T>C (p.Met287Thr) n.1623T>C n.1458T>C | |
| 3 | g.193643544T>G | CA355789479 | OPA1 | c.1394T>G (p.Met465Arg) c.1229T>G (p.Met410Arg) c.1340T>G (p.Met447Arg) c.1283T>G (p.Met428Arg) c.1168T>G c.911T>G (p.Met304Arg) c.*1310T>G (n.*1310T>G) c.889T>G c.857T>G (p.Met286Arg) c.1198T>G c.1244T>G (p.Met415Arg) c.*707T>G (n.*707T>G) c.217T>G c.1121T>G (p.Met374Arg) c.1232T>G (p.Met411Arg) c.1286T>G (p.Met429Arg) n.425T>G c.1175T>G (p.Met392Arg) c.860T>G (p.Met287Arg) n.1623T>G n.1458T>G | |
| 3 | g.193643545G>A | CA355789482 | OPA1 | c.1395G>A (p.Met465Ile) c.1230G>A (p.Met410Ile) c.1341G>A (p.Met447Ile) c.1284G>A (p.Met428Ile) c.1169G>A c.912G>A (p.Met304Ile) c.*1311G>A (n.*1311G>A) c.890G>A c.858G>A (p.Met286Ile) c.1199G>A c.1245G>A (p.Met415Ile) c.*708G>A (n.*708G>A) c.218G>A c.1122G>A (p.Met374Ile) c.1233G>A (p.Met411Ile) c.1287G>A (p.Met429Ile) n.426G>A c.1176G>A (p.Met392Ile) c.861G>A (p.Met287Ile) n.1624G>A n.1459G>A | COSMIC |
| 3 | g.193643545G>C | CA355789483 | OPA1 | c.1395G>C (p.Met465Ile) c.1230G>C (p.Met410Ile) c.1341G>C (p.Met447Ile) c.1284G>C (p.Met428Ile) c.1169G>C c.912G>C (p.Met304Ile) c.*1311G>C (n.*1311G>C) c.890G>C c.858G>C (p.Met286Ile) c.1199G>C c.1245G>C (p.Met415Ile) c.*708G>C (n.*708G>C) c.218G>C c.1122G>C (p.Met374Ile) c.1233G>C (p.Met411Ile) c.1287G>C (p.Met429Ile) n.426G>C c.1176G>C (p.Met392Ile) c.861G>C (p.Met287Ile) n.1624G>C n.1459G>C | |
| 3 | g.193643545G>T | CA355789484 | OPA1 | c.1395G>T (p.Met465Ile) c.1230G>T (p.Met410Ile) c.1341G>T (p.Met447Ile) c.1284G>T (p.Met428Ile) c.1169G>T c.912G>T (p.Met304Ile) c.*1311G>T (n.*1311G>T) c.890G>T c.858G>T (p.Met286Ile) c.1199G>T c.1245G>T (p.Met415Ile) c.*708G>T (n.*708G>T) c.218G>T c.1122G>T (p.Met374Ile) c.1233G>T (p.Met411Ile) c.1287G>T (p.Met429Ile) n.426G>T c.1176G>T (p.Met392Ile) c.861G>T (p.Met287Ile) n.1624G>T n.1459G>T | |
| 3 | g.193643546G>A | CA355789485 | OPA1 | c.1396G>A (p.Ala466Thr) c.1231G>A (p.Ala411Thr) c.1342G>A (p.Ala448Thr) c.1285G>A (p.Ala429Thr) c.1170G>A c.913G>A (p.Ala305Thr) c.*1312G>A (n.*1312G>A) c.891G>A c.859G>A (p.Ala287Thr) c.1200G>A c.1246G>A (p.Ala416Thr) c.*709G>A (n.*709G>A) c.219G>A c.1123G>A (p.Ala375Thr) c.1234G>A (p.Ala412Thr) c.1288G>A (p.Ala430Thr) n.427G>A c.1177G>A (p.Ala393Thr) c.862G>A (p.Ala288Thr) n.1625G>A n.1460G>A | |
| 3 | g.193643546G>C | CA355789486 | OPA1 | c.1396G>C (p.Ala466Pro) c.1231G>C (p.Ala411Pro) c.1342G>C (p.Ala448Pro) c.1285G>C (p.Ala429Pro) c.1170G>C c.913G>C (p.Ala305Pro) c.*1312G>C (n.*1312G>C) c.891G>C c.859G>C (p.Ala287Pro) c.1200G>C c.1246G>C (p.Ala416Pro) c.*709G>C (n.*709G>C) c.219G>C c.1123G>C (p.Ala375Pro) c.1234G>C (p.Ala412Pro) c.1288G>C (p.Ala430Pro) n.427G>C c.1177G>C (p.Ala393Pro) c.862G>C (p.Ala288Pro) n.1625G>C n.1460G>C | |
| 3 | g.193643546G>T | CA355789487 | OPA1 | c.1396G>T (p.Ala466Ser) c.1231G>T (p.Ala411Ser) c.1342G>T (p.Ala448Ser) c.1285G>T (p.Ala429Ser) c.1170G>T c.913G>T (p.Ala305Ser) c.*1312G>T (n.*1312G>T) c.891G>T c.859G>T (p.Ala287Ser) c.1200G>T c.1246G>T (p.Ala416Ser) c.*709G>T (n.*709G>T) c.219G>T c.1123G>T (p.Ala375Ser) c.1234G>T (p.Ala412Ser) c.1288G>T (p.Ala430Ser) n.427G>T c.1177G>T (p.Ala393Ser) c.862G>T (p.Ala288Ser) n.1625G>T n.1460G>T | |
| 3 | g.193643547C>A | CA355789488 | OPA1 | c.1397C>A (p.Ala466Asp) c.1232C>A (p.Ala411Asp) c.1343C>A (p.Ala448Asp) c.1286C>A (p.Ala429Asp) c.1171C>A c.914C>A (p.Ala305Asp) c.*1313C>A (n.*1313C>A) c.892C>A c.860C>A (p.Ala287Asp) c.1201C>A c.1247C>A (p.Ala416Asp) c.*710C>A (n.*710C>A) c.220C>A c.1124C>A (p.Ala375Asp) c.1235C>A (p.Ala412Asp) c.1289C>A (p.Ala430Asp) n.428C>A c.1178C>A (p.Ala393Asp) c.863C>A (p.Ala288Asp) n.1626C>A n.1461C>A | |
| 3 | g.193643547C= | CA1430245082 | OPA1 | c.1397C= (p.Ala466=) c.1232C= (p.Ala411=) c.1343C= (p.Ala448=) c.1286C= (p.Ala429=) c.1171C= c.914C= (p.Ala305=) c.*1313C= (n.*1313C=) c.892C= c.860C= (p.Ala287=) c.1201C= c.1247C= (p.Ala416=) c.*710C= (n.*710C=) c.220C= c.1124C= (p.Ala375=) c.1235C= (p.Ala412=) c.1289C= (p.Ala430=) n.428C= c.1178C= (p.Ala393=) c.863C= (p.Ala288=) n.1626C= n.1461C= | |
| 3 | g.193643547C>G | CA2759373 | OPA1 | c.1397C>G (p.Ala466Gly) c.1232C>G (p.Ala411Gly) c.1343C>G (p.Ala448Gly) c.1286C>G (p.Ala429Gly) c.1171C>G c.914C>G (p.Ala305Gly) c.*1313C>G (n.*1313C>G) c.892C>G c.860C>G (p.Ala287Gly) c.1201C>G c.1247C>G (p.Ala416Gly) c.*710C>G (n.*710C>G) c.220C>G c.1124C>G (p.Ala375Gly) c.1235C>G (p.Ala412Gly) c.1289C>G (p.Ala430Gly) n.428C>G c.1178C>G (p.Ala393Gly) c.863C>G (p.Ala288Gly) n.1626C>G n.1461C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.193643547C>T | CA355789489 | OPA1 | c.1397C>T (p.Ala466Val) c.1232C>T (p.Ala411Val) c.1343C>T (p.Ala448Val) c.1286C>T (p.Ala429Val) c.1171C>T c.914C>T (p.Ala305Val) c.*1313C>T (n.*1313C>T) c.892C>T c.860C>T (p.Ala287Val) c.1201C>T c.1247C>T (p.Ala416Val) c.*710C>T (n.*710C>T) c.220C>T c.1124C>T (p.Ala375Val) c.1235C>T (p.Ala412Val) c.1289C>T (p.Ala430Val) n.428C>T c.1178C>T (p.Ala393Val) c.863C>T (p.Ala288Val) n.1626C>T n.1461C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.193643548T>A | CA437436075 | OPA1 | c.1398T>A (p.Ala466=) c.1233T>A (p.Ala411=) c.1344T>A (p.Ala448=) c.1287T>A (p.Ala429=) c.1172T>A c.915T>A (p.Ala305=) c.*1314T>A (n.*1314T>A) c.893T>A c.861T>A (p.Ala287=) c.1202T>A c.1248T>A (p.Ala416=) c.*711T>A (n.*711T>A) c.221T>A c.1125T>A (p.Ala375=) c.1236T>A (p.Ala412=) c.1290T>A (p.Ala430=) n.429T>A c.1179T>A (p.Ala393=) c.864T>A (p.Ala288=) n.1627T>A n.1462T>A | |
| 3 | g.193643548T>C | CA10605561 | OPA1 | c.1398T>C (p.Ala466=) c.1233T>C (p.Ala411=) c.1344T>C (p.Ala448=) c.1287T>C (p.Ala429=) c.1172T>C c.915T>C (p.Ala305=) c.*1314T>C (n.*1314T>C) c.893T>C c.861T>C (p.Ala287=) c.1202T>C c.1248T>C (p.Ala416=) c.*711T>C (n.*711T>C) c.221T>C c.1125T>C (p.Ala375=) c.1236T>C (p.Ala412=) c.1290T>C (p.Ala430=) n.429T>C c.1179T>C (p.Ala393=) c.864T>C (p.Ala288=) n.1627T>C n.1462T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.193643548T>G | CA437436076 | OPA1 | c.1398T>G (p.Ala466=) c.1233T>G (p.Ala411=) c.1344T>G (p.Ala448=) c.1287T>G (p.Ala429=) c.1172T>G c.915T>G (p.Ala305=) c.*1314T>G (n.*1314T>G) c.893T>G c.861T>G (p.Ala287=) c.1202T>G c.1248T>G (p.Ala416=) c.*711T>G (n.*711T>G) c.221T>G c.1125T>G (p.Ala375=) c.1236T>G (p.Ala412=) c.1290T>G (p.Ala430=) n.429T>G c.1179T>G (p.Ala393=) c.864T>G (p.Ala288=) n.1627T>G n.1462T>G | |
| 3 | g.193643548T= | CA1430245088 | OPA1 | c.1398T= (p.Ala466=) c.1233T= (p.Ala411=) c.1344T= (p.Ala448=) c.1287T= (p.Ala429=) c.1172T= c.915T= (p.Ala305=) c.*1314T= (n.*1314T=) c.893T= c.861T= (p.Ala287=) c.1202T= c.1248T= (p.Ala416=) c.*711T= (n.*711T=) c.221T= c.1125T= (p.Ala375=) c.1236T= (p.Ala412=) c.1290T= (p.Ala430=) n.429T= c.1179T= (p.Ala393=) c.864T= (p.Ala288=) n.1627T= n.1462T= | |
| 3 | g.193643549C>A | CA355789490 | OPA1 | c.1399C>A (p.Pro467Thr) c.1234C>A (p.Pro412Thr) c.1345C>A (p.Pro449Thr) c.1288C>A (p.Pro430Thr) c.1173C>A c.916C>A (p.Pro306Thr) c.*1315C>A (n.*1315C>A) c.894C>A c.862C>A (p.Pro288Thr) c.1203C>A c.1249C>A (p.Pro417Thr) c.*712C>A (n.*712C>A) c.222C>A c.1126C>A (p.Pro376Thr) c.1237C>A (p.Pro413Thr) c.1291C>A (p.Pro431Thr) n.430C>A c.1180C>A (p.Pro394Thr) c.865C>A (p.Pro289Thr) n.1628C>A n.1463C>A | |
| 3 | g.193643549C= | CA1430245097 | OPA1 | c.1399C= (p.Pro467=) c.1234C= (p.Pro412=) c.1345C= (p.Pro449=) c.1288C= (p.Pro430=) c.1173C= c.916C= (p.Pro306=) c.*1315C= (n.*1315C=) c.894C= c.862C= (p.Pro288=) c.1203C= c.1249C= (p.Pro417=) c.*712C= (n.*712C=) c.222C= c.1126C= (p.Pro376=) c.1237C= (p.Pro413=) c.1291C= (p.Pro431=) n.430C= c.1180C= (p.Pro394=) c.865C= (p.Pro289=) n.1628C= n.1463C= | |
| 3 | g.193643549C>G | CA355789491 | OPA1 | c.1399C>G (p.Pro467Ala) c.1234C>G (p.Pro412Ala) c.1345C>G (p.Pro449Ala) c.1288C>G (p.Pro430Ala) c.1173C>G c.916C>G (p.Pro306Ala) c.*1315C>G (n.*1315C>G) c.894C>G c.862C>G (p.Pro288Ala) c.1203C>G c.1249C>G (p.Pro417Ala) c.*712C>G (n.*712C>G) c.222C>G c.1126C>G (p.Pro376Ala) c.1237C>G (p.Pro413Ala) c.1291C>G (p.Pro431Ala) n.430C>G c.1180C>G (p.Pro394Ala) c.865C>G (p.Pro289Ala) n.1628C>G n.1463C>G | |
| 3 | g.193643549C>T | CA90532463 | OPA1 | c.1399C>T (p.Pro467Ser) c.1234C>T (p.Pro412Ser) c.1345C>T (p.Pro449Ser) c.1288C>T (p.Pro430Ser) c.1173C>T c.916C>T (p.Pro306Ser) c.*1315C>T (n.*1315C>T) c.894C>T c.862C>T (p.Pro288Ser) c.1203C>T c.1249C>T (p.Pro417Ser) c.*712C>T (n.*712C>T) c.222C>T c.1126C>T (p.Pro376Ser) c.1237C>T (p.Pro413Ser) c.1291C>T (p.Pro431Ser) n.430C>T c.1180C>T (p.Pro394Ser) c.865C>T (p.Pro289Ser) n.1628C>T n.1463C>T | dbSNP gnomAD v4 |
| 3 | g.193643550C>A | CA355789492 | OPA1 | c.1400C>A (p.Pro467His) c.1235C>A (p.Pro412His) c.1346C>A (p.Pro449His) c.1289C>A (p.Pro430His) c.1174C>A c.917C>A (p.Pro306His) c.*1316C>A (n.*1316C>A) c.895C>A c.863C>A (p.Pro288His) c.1204C>A c.1250C>A (p.Pro417His) c.*713C>A (n.*713C>A) c.223C>A c.1127C>A (p.Pro376His) c.1238C>A (p.Pro413His) c.1292C>A (p.Pro431His) n.431C>A c.1181C>A (p.Pro394His) c.866C>A (p.Pro289His) n.1629C>A n.1464C>A | |
| 3 | g.193643550C>G | CA355789494 | OPA1 | c.1400C>G (p.Pro467Arg) c.1235C>G (p.Pro412Arg) c.1346C>G (p.Pro449Arg) c.1289C>G (p.Pro430Arg) c.1174C>G c.917C>G (p.Pro306Arg) c.*1316C>G (n.*1316C>G) c.895C>G c.863C>G (p.Pro288Arg) c.1204C>G c.1250C>G (p.Pro417Arg) c.*713C>G (n.*713C>G) c.223C>G c.1127C>G (p.Pro376Arg) c.1238C>G (p.Pro413Arg) c.1292C>G (p.Pro431Arg) n.431C>G c.1181C>G (p.Pro394Arg) c.866C>G (p.Pro289Arg) n.1629C>G n.1464C>G | |
| 3 | g.193643550C>T | CA355789493 | OPA1 | c.1400C>T (p.Pro467Leu) c.1235C>T (p.Pro412Leu) c.1346C>T (p.Pro449Leu) c.1289C>T (p.Pro430Leu) c.1174C>T c.917C>T (p.Pro306Leu) c.*1316C>T (n.*1316C>T) c.895C>T c.863C>T (p.Pro288Leu) c.1204C>T c.1250C>T (p.Pro417Leu) c.*713C>T (n.*713C>T) c.223C>T c.1127C>T (p.Pro376Leu) c.1238C>T (p.Pro413Leu) c.1292C>T (p.Pro431Leu) n.431C>T c.1181C>T (p.Pro394Leu) c.866C>T (p.Pro289Leu) n.1629C>T n.1464C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.193643551T>A | CA437436078 | OPA1 | c.1401T>A (p.Pro467=) c.1236T>A (p.Pro412=) c.1347T>A (p.Pro449=) c.1290T>A (p.Pro430=) c.1175T>A c.918T>A (p.Pro306=) c.*1317T>A (n.*1317T>A) c.896T>A c.864T>A (p.Pro288=) c.1205T>A c.1251T>A (p.Pro417=) c.*714T>A (n.*714T>A) c.224T>A c.1128T>A (p.Pro376=) c.1239T>A (p.Pro413=) c.1293T>A (p.Pro431=) n.432T>A c.1182T>A (p.Pro394=) c.867T>A (p.Pro289=) n.1630T>A n.1465T>A | |
| 3 | g.193643551T>C | CA437436079 | OPA1 | c.1401T>C (p.Pro467=) c.1236T>C (p.Pro412=) c.1347T>C (p.Pro449=) c.1290T>C (p.Pro430=) c.1175T>C c.918T>C (p.Pro306=) c.*1317T>C (n.*1317T>C) c.896T>C c.864T>C (p.Pro288=) c.1205T>C c.1251T>C (p.Pro417=) c.*714T>C (n.*714T>C) c.224T>C c.1128T>C (p.Pro376=) c.1239T>C (p.Pro413=) c.1293T>C (p.Pro431=) n.432T>C c.1182T>C (p.Pro394=) c.867T>C (p.Pro289=) n.1630T>C n.1465T>C | |
| 3 | g.193643551T>G | CA437436077 | OPA1 | c.1401T>G (p.Pro467=) c.1236T>G (p.Pro412=) c.1347T>G (p.Pro449=) c.1290T>G (p.Pro430=) c.1175T>G c.918T>G (p.Pro306=) c.*1317T>G (n.*1317T>G) c.896T>G c.864T>G (p.Pro288=) c.1205T>G c.1251T>G (p.Pro417=) c.*714T>G (n.*714T>G) c.224T>G c.1128T>G (p.Pro376=) c.1239T>G (p.Pro413=) c.1293T>G (p.Pro431=) n.432T>G c.1182T>G (p.Pro394=) c.867T>G (p.Pro289=) n.1630T>G n.1465T>G | |
| 3 | g.193643552G>A | CA355789495 | OPA1 | c.1402G>A (p.Asp468Asn) c.1237G>A (p.Asp413Asn) c.1348G>A (p.Asp450Asn) c.1291G>A (p.Asp431Asn) c.1176G>A c.919G>A (p.Asp307Asn) c.*1318G>A (n.*1318G>A) c.897G>A c.865G>A (p.Asp289Asn) c.1206G>A c.1252G>A (p.Asp418Asn) c.*715G>A (n.*715G>A) c.225G>A c.1129G>A (p.Asp377Asn) c.1240G>A (p.Asp414Asn) c.1294G>A (p.Asp432Asn) n.433G>A c.1183G>A (p.Asp395Asn) c.868G>A (p.Asp290Asn) n.1631G>A n.1466G>A | |
| 3 | g.193643552G>C | CA355789496 | OPA1 | c.1402G>C (p.Asp468His) c.1237G>C (p.Asp413His) c.1348G>C (p.Asp450His) c.1291G>C (p.Asp431His) c.1176G>C c.919G>C (p.Asp307His) c.*1318G>C (n.*1318G>C) c.897G>C c.865G>C (p.Asp289His) c.1206G>C c.1252G>C (p.Asp418His) c.*715G>C (n.*715G>C) c.225G>C c.1129G>C (p.Asp377His) c.1240G>C (p.Asp414His) c.1294G>C (p.Asp432His) n.433G>C c.1183G>C (p.Asp395His) c.868G>C (p.Asp290His) n.1631G>C n.1466G>C | |
| 3 | g.193643552G>T | CA355789497 | OPA1 | c.1402G>T (p.Asp468Tyr) c.1237G>T (p.Asp413Tyr) c.1348G>T (p.Asp450Tyr) c.1291G>T (p.Asp431Tyr) c.1176G>T c.919G>T (p.Asp307Tyr) c.*1318G>T (n.*1318G>T) c.897G>T c.865G>T (p.Asp289Tyr) c.1206G>T c.1252G>T (p.Asp418Tyr) c.*715G>T (n.*715G>T) c.225G>T c.1129G>T (p.Asp377Tyr) c.1240G>T (p.Asp414Tyr) c.1294G>T (p.Asp432Tyr) n.433G>T c.1183G>T (p.Asp395Tyr) c.868G>T (p.Asp290Tyr) n.1631G>T n.1466G>T | |
| 3 | g.193643553A>C | CA355789498 | OPA1 | c.1403A>C (p.Asp468Ala) c.1238A>C (p.Asp413Ala) c.1349A>C (p.Asp450Ala) c.1292A>C (p.Asp431Ala) c.1177A>C c.920A>C (p.Asp307Ala) c.*1319A>C (n.*1319A>C) c.898A>C c.866A>C (p.Asp289Ala) c.1207A>C c.1253A>C (p.Asp418Ala) c.*716A>C (n.*716A>C) c.226A>C c.1130A>C (p.Asp377Ala) c.1241A>C (p.Asp414Ala) c.1295A>C (p.Asp432Ala) n.434A>C c.1184A>C (p.Asp395Ala) c.869A>C (p.Asp290Ala) n.1632A>C n.1467A>C | |
| 3 | g.193643553A>G | CA355789499 | OPA1 | c.1403A>G (p.Asp468Gly) c.1238A>G (p.Asp413Gly) c.1349A>G (p.Asp450Gly) c.1292A>G (p.Asp431Gly) c.1177A>G c.920A>G (p.Asp307Gly) c.*1319A>G (n.*1319A>G) c.898A>G c.866A>G (p.Asp289Gly) c.1207A>G c.1253A>G (p.Asp418Gly) c.*716A>G (n.*716A>G) c.226A>G c.1130A>G (p.Asp377Gly) c.1241A>G (p.Asp414Gly) c.1295A>G (p.Asp432Gly) n.434A>G c.1184A>G (p.Asp395Gly) c.869A>G (p.Asp290Gly) n.1632A>G n.1467A>G | |
| 3 | g.193643553A>T | CA355789500 | OPA1 | c.1403A>T (p.Asp468Val) c.1238A>T (p.Asp413Val) c.1349A>T (p.Asp450Val) c.1292A>T (p.Asp431Val) c.1177A>T c.920A>T (p.Asp307Val) c.*1319A>T (n.*1319A>T) c.898A>T c.866A>T (p.Asp289Val) c.1207A>T c.1253A>T (p.Asp418Val) c.*716A>T (n.*716A>T) c.226A>T c.1130A>T (p.Asp377Val) c.1241A>T (p.Asp414Val) c.1295A>T (p.Asp432Val) n.434A>T c.1184A>T (p.Asp395Val) c.869A>T (p.Asp290Val) n.1632A>T n.1467A>T | |
| 3 | g.193643556_193643557del | CA2580616037 | OPA1 | c.1406_1407del (p.Thr469LysfsTer16) c.1241_1242del (p.Thr414LysfsTer16) c.1352_1353del (p.Thr451LysfsTer16) c.1295_1296del (p.Thr432LysfsTer16) c.1180_1181del c.923_924del (p.Thr308LysfsTer16) c.*1322_*1323del (n.*1322_*1323del) c.901_902del c.869_870del (p.Thr290LysfsTer16) c.1210_1211del c.1256_1257del (p.Thr419LysfsTer16) c.*719_*720del (n.*719_*720del) c.229_230del c.1133_1134del (p.Thr378LysfsTer16) c.1244_1245del (p.Thr415LysfsTer16) c.1298_1299del (p.Thr433LysfsTer16) n.437_438del c.1187_1188del (p.Thr396LysfsTer16) c.872_873del (p.Thr291LysfsTer16) n.1635_1636del n.1470_1471del | ClinVar |
| 3 | g.193643554C>A | CA355789502 | OPA1 | c.1404C>A (p.Asp468Glu) c.1239C>A (p.Asp413Glu) c.1350C>A (p.Asp450Glu) c.1293C>A (p.Asp431Glu) c.1178C>A c.921C>A (p.Asp307Glu) c.*1320C>A (n.*1320C>A) c.899C>A c.867C>A (p.Asp289Glu) c.1208C>A c.1254C>A (p.Asp418Glu) c.*717C>A (n.*717C>A) c.227C>A c.1131C>A (p.Asp377Glu) c.1242C>A (p.Asp414Glu) c.1296C>A (p.Asp432Glu) n.435C>A c.1185C>A (p.Asp395Glu) c.870C>A (p.Asp290Glu) n.1633C>A n.1468C>A | dbSNP |
| 3 | g.193643554C= | CA1430245103 | OPA1 | c.1404C= (p.Asp468=) c.1239C= (p.Asp413=) c.1350C= (p.Asp450=) c.1293C= (p.Asp431=) c.1178C= c.921C= (p.Asp307=) c.*1320C= (n.*1320C=) c.899C= c.867C= (p.Asp289=) c.1208C= c.1254C= (p.Asp418=) c.*717C= (n.*717C=) c.227C= c.1131C= (p.Asp377=) c.1242C= (p.Asp414=) c.1296C= (p.Asp432=) n.435C= c.1185C= (p.Asp395=) c.870C= (p.Asp290=) n.1633C= n.1468C= | |
| 3 | g.193643554C>G | CA355789501 | OPA1 | c.1404C>G (p.Asp468Glu) c.1239C>G (p.Asp413Glu) c.1350C>G (p.Asp450Glu) c.1293C>G (p.Asp431Glu) c.1178C>G c.921C>G (p.Asp307Glu) c.*1320C>G (n.*1320C>G) c.899C>G c.867C>G (p.Asp289Glu) c.1208C>G c.1254C>G (p.Asp418Glu) c.*717C>G (n.*717C>G) c.227C>G c.1131C>G (p.Asp377Glu) c.1242C>G (p.Asp414Glu) c.1296C>G (p.Asp432Glu) n.435C>G c.1185C>G (p.Asp395Glu) c.870C>G (p.Asp290Glu) n.1633C>G n.1468C>G | gnomAD v4 |
| 3 | g.193643554C>T | CA437436080 | OPA1 | c.1404C>T (p.Asp468=) c.1239C>T (p.Asp413=) c.1350C>T (p.Asp450=) c.1293C>T (p.Asp431=) c.1178C>T c.921C>T (p.Asp307=) c.*1320C>T (n.*1320C>T) c.899C>T c.867C>T (p.Asp289=) c.1208C>T c.1254C>T (p.Asp418=) c.*717C>T (n.*717C>T) c.227C>T c.1131C>T (p.Asp377=) c.1242C>T (p.Asp414=) c.1296C>T (p.Asp432=) n.435C>T c.1185C>T (p.Asp395=) c.870C>T (p.Asp290=) n.1633C>T n.1468C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193643555A>C | CA355789503 | OPA1 | c.1405A>C (p.Thr469Pro) c.1240A>C (p.Thr414Pro) c.1351A>C (p.Thr451Pro) c.1294A>C (p.Thr432Pro) c.1179A>C c.922A>C (p.Thr308Pro) c.*1321A>C (n.*1321A>C) c.900A>C c.868A>C (p.Thr290Pro) c.1209A>C c.1255A>C (p.Thr419Pro) c.*718A>C (n.*718A>C) c.228A>C c.1132A>C (p.Thr378Pro) c.1243A>C (p.Thr415Pro) c.1297A>C (p.Thr433Pro) n.436A>C c.1186A>C (p.Thr396Pro) c.871A>C (p.Thr291Pro) n.1634A>C n.1469A>C | |
| 3 | g.193643555A>G | CA355789504 | OPA1 | c.1405A>G (p.Thr469Ala) c.1240A>G (p.Thr414Ala) c.1351A>G (p.Thr451Ala) c.1294A>G (p.Thr432Ala) c.1179A>G c.922A>G (p.Thr308Ala) c.*1321A>G (n.*1321A>G) c.900A>G c.868A>G (p.Thr290Ala) c.1209A>G c.1255A>G (p.Thr419Ala) c.*718A>G (n.*718A>G) c.228A>G c.1132A>G (p.Thr378Ala) c.1243A>G (p.Thr415Ala) c.1297A>G (p.Thr433Ala) n.436A>G c.1186A>G (p.Thr396Ala) c.871A>G (p.Thr291Ala) n.1634A>G n.1469A>G | |
| 3 | g.193643555A>T | CA355789505 | OPA1 | c.1405A>T (p.Thr469Ser) c.1240A>T (p.Thr414Ser) c.1351A>T (p.Thr451Ser) c.1294A>T (p.Thr432Ser) c.1179A>T c.922A>T (p.Thr308Ser) c.*1321A>T (n.*1321A>T) c.900A>T c.868A>T (p.Thr290Ser) c.1209A>T c.1255A>T (p.Thr419Ser) c.*718A>T (n.*718A>T) c.228A>T c.1132A>T (p.Thr378Ser) c.1243A>T (p.Thr415Ser) c.1297A>T (p.Thr433Ser) n.436A>T c.1186A>T (p.Thr396Ser) c.871A>T (p.Thr291Ser) n.1634A>T n.1469A>T | |
| 3 | g.193643556C>A | CA355789506 | OPA1 | c.1406C>A (p.Thr469Lys) c.1241C>A (p.Thr414Lys) c.1352C>A (p.Thr451Lys) c.1295C>A (p.Thr432Lys) c.1180C>A c.923C>A (p.Thr308Lys) c.*1322C>A (n.*1322C>A) c.901C>A c.869C>A (p.Thr290Lys) c.1210C>A c.1256C>A (p.Thr419Lys) c.*719C>A (n.*719C>A) c.229C>A c.1133C>A (p.Thr378Lys) c.1244C>A (p.Thr415Lys) c.1298C>A (p.Thr433Lys) n.437C>A c.1187C>A (p.Thr396Lys) c.872C>A (p.Thr291Lys) n.1635C>A n.1470C>A | |
| 3 | g.193643556C>G | CA355789507 | OPA1 | c.1406C>G (p.Thr469Arg) c.1241C>G (p.Thr414Arg) c.1352C>G (p.Thr451Arg) c.1295C>G (p.Thr432Arg) c.1180C>G c.923C>G (p.Thr308Arg) c.*1322C>G (n.*1322C>G) c.901C>G c.869C>G (p.Thr290Arg) c.1210C>G c.1256C>G (p.Thr419Arg) c.*719C>G (n.*719C>G) c.229C>G c.1133C>G (p.Thr378Arg) c.1244C>G (p.Thr415Arg) c.1298C>G (p.Thr433Arg) n.437C>G c.1187C>G (p.Thr396Arg) c.872C>G (p.Thr291Arg) n.1635C>G n.1470C>G | |
| 3 | g.193643556C>T | CA355789508 | OPA1 | c.1406C>T (p.Thr469Ile) c.1241C>T (p.Thr414Ile) c.1352C>T (p.Thr451Ile) c.1295C>T (p.Thr432Ile) c.1180C>T c.923C>T (p.Thr308Ile) c.*1322C>T (n.*1322C>T) c.901C>T c.869C>T (p.Thr290Ile) c.1210C>T c.1256C>T (p.Thr419Ile) c.*719C>T (n.*719C>T) c.229C>T c.1133C>T (p.Thr378Ile) c.1244C>T (p.Thr415Ile) c.1298C>T (p.Thr433Ile) n.437C>T c.1187C>T (p.Thr396Ile) c.872C>T (p.Thr291Ile) n.1635C>T n.1470C>T | |
| 3 | g.193643557A= | CA1430245108 | OPA1 | c.1407A= (p.Thr469=) c.1242A= (p.Thr414=) c.1353A= (p.Thr451=) c.1296A= (p.Thr432=) c.1181A= c.924A= (p.Thr308=) c.*1323A= (n.*1323A=) c.902A= c.870A= (p.Thr290=) c.1211A= c.1257A= (p.Thr419=) c.*720A= (n.*720A=) c.230A= c.1134A= (p.Thr378=) c.1245A= (p.Thr415=) c.1299A= (p.Thr433=) n.438A= c.1188A= (p.Thr396=) c.873A= (p.Thr291=) n.1636A= n.1471A= | |
| 3 | g.193643557A>C | CA437436081 | OPA1 | c.1407A>C (p.Thr469=) c.1242A>C (p.Thr414=) c.1353A>C (p.Thr451=) c.1296A>C (p.Thr432=) c.1181A>C c.924A>C (p.Thr308=) c.*1323A>C (n.*1323A>C) c.902A>C c.870A>C (p.Thr290=) c.1211A>C c.1257A>C (p.Thr419=) c.*720A>C (n.*720A>C) c.230A>C c.1134A>C (p.Thr378=) c.1245A>C (p.Thr415=) c.1299A>C (p.Thr433=) n.438A>C c.1188A>C (p.Thr396=) c.873A>C (p.Thr291=) n.1636A>C n.1471A>C | ClinVar dbSNP |
| 3 | g.193643557A>G | CA437436083 | OPA1 | c.1407A>G (p.Thr469=) c.1242A>G (p.Thr414=) c.1353A>G (p.Thr451=) c.1296A>G (p.Thr432=) c.1181A>G c.924A>G (p.Thr308=) c.*1323A>G (n.*1323A>G) c.902A>G c.870A>G (p.Thr290=) c.1211A>G c.1257A>G (p.Thr419=) c.*720A>G (n.*720A>G) c.230A>G c.1134A>G (p.Thr378=) c.1245A>G (p.Thr415=) c.1299A>G (p.Thr433=) n.438A>G c.1188A>G (p.Thr396=) c.873A>G (p.Thr291=) n.1636A>G n.1471A>G | gnomAD v4 |
| 3 | g.193643557A>T | CA437436082 | OPA1 | c.1407A>T (p.Thr469=) c.1242A>T (p.Thr414=) c.1353A>T (p.Thr451=) c.1296A>T (p.Thr432=) c.1181A>T c.924A>T (p.Thr308=) c.*1323A>T (n.*1323A>T) c.902A>T c.870A>T (p.Thr290=) c.1211A>T c.1257A>T (p.Thr419=) c.*720A>T (n.*720A>T) c.230A>T c.1134A>T (p.Thr378=) c.1245A>T (p.Thr415=) c.1299A>T (p.Thr433=) n.438A>T c.1188A>T (p.Thr396=) c.873A>T (p.Thr291=) n.1636A>T n.1471A>T | |
| 3 | g.193643558A>C | CA355789511 | OPA1 | c.1408A>C (p.Lys470Gln) c.1243A>C (p.Lys415Gln) c.1354A>C (p.Lys452Gln) c.1297A>C (p.Lys433Gln) c.1182A>C c.925A>C (p.Lys309Gln) c.*1324A>C (n.*1324A>C) c.903A>C c.871A>C (p.Lys291Gln) c.1212A>C c.1258A>C (p.Lys420Gln) c.*721A>C (n.*721A>C) c.231A>C c.1135A>C (p.Lys379Gln) c.1246A>C (p.Lys416Gln) c.1300A>C (p.Lys434Gln) n.439A>C c.1189A>C (p.Lys397Gln) c.874A>C (p.Lys292Gln) n.1637A>C n.1472A>C | |
| 3 | g.193643558A>G | CA355789509 | OPA1 | c.1408A>G (p.Lys470Glu) c.1243A>G (p.Lys415Glu) c.1354A>G (p.Lys452Glu) c.1297A>G (p.Lys433Glu) c.1182A>G c.925A>G (p.Lys309Glu) c.*1324A>G (n.*1324A>G) c.903A>G c.871A>G (p.Lys291Glu) c.1212A>G c.1258A>G (p.Lys420Glu) c.*721A>G (n.*721A>G) c.231A>G c.1135A>G (p.Lys379Glu) c.1246A>G (p.Lys416Glu) c.1300A>G (p.Lys434Glu) n.439A>G c.1189A>G (p.Lys397Glu) c.874A>G (p.Lys292Glu) n.1637A>G n.1472A>G | ClinVar dbSNP |
| 3 | g.193643558A>T | CA355789510 | OPA1 | c.1408A>T (p.Lys470Ter) c.1243A>T (p.Lys415Ter) c.1354A>T (p.Lys452Ter) c.1297A>T (p.Lys433Ter) c.1182A>T c.925A>T (p.Lys309Ter) c.*1324A>T (n.*1324A>T) c.903A>T c.871A>T (p.Lys291Ter) c.1212A>T c.1258A>T (p.Lys420Ter) c.*721A>T (n.*721A>T) c.231A>T c.1135A>T (p.Lys379Ter) c.1246A>T (p.Lys416Ter) c.1300A>T (p.Lys434Ter) n.439A>T c.1189A>T (p.Lys397Ter) c.874A>T (p.Lys292Ter) n.1637A>T n.1472A>T | |
| 3 | g.193643559A>C | CA355789512 | OPA1 | c.1409A>C (p.Lys470Thr) c.1244A>C (p.Lys415Thr) c.1355A>C (p.Lys452Thr) c.1298A>C (p.Lys433Thr) c.1183A>C c.926A>C (p.Lys309Thr) c.*1325A>C (n.*1325A>C) c.904A>C c.872A>C (p.Lys291Thr) c.1213A>C c.1259A>C (p.Lys420Thr) c.*722A>C (n.*722A>C) c.232A>C c.1136A>C (p.Lys379Thr) c.1247A>C (p.Lys416Thr) c.1301A>C (p.Lys434Thr) n.440A>C c.1190A>C (p.Lys397Thr) c.875A>C (p.Lys292Thr) n.1638A>C n.1473A>C | |
| 3 | g.193643559A>G | CA355789513 | OPA1 | c.1409A>G (p.Lys470Arg) c.1244A>G (p.Lys415Arg) c.1355A>G (p.Lys452Arg) c.1298A>G (p.Lys433Arg) c.1183A>G c.926A>G (p.Lys309Arg) c.*1325A>G (n.*1325A>G) c.904A>G c.872A>G (p.Lys291Arg) c.1213A>G c.1259A>G (p.Lys420Arg) c.*722A>G (n.*722A>G) c.232A>G c.1136A>G (p.Lys379Arg) c.1247A>G (p.Lys416Arg) c.1301A>G (p.Lys434Arg) n.440A>G c.1190A>G (p.Lys397Arg) c.875A>G (p.Lys292Arg) n.1638A>G n.1473A>G | gnomAD v4 |
| 3 | g.193643559A>T | CA355789514 | OPA1 | c.1409A>T (p.Lys470Met) c.1244A>T (p.Lys415Met) c.1355A>T (p.Lys452Met) c.1298A>T (p.Lys433Met) c.1183A>T c.926A>T (p.Lys309Met) c.*1325A>T (n.*1325A>T) c.904A>T c.872A>T (p.Lys291Met) c.1213A>T c.1259A>T (p.Lys420Met) c.*722A>T (n.*722A>T) c.232A>T c.1136A>T (p.Lys379Met) c.1247A>T (p.Lys416Met) c.1301A>T (p.Lys434Met) n.440A>T c.1190A>T (p.Lys397Met) c.875A>T (p.Lys292Met) n.1638A>T n.1473A>T | |
| 3 | g.193643560G>A | CA437436084 | OPA1 | c.1410G>A (p.Lys470=) c.1245G>A (p.Lys415=) c.1356G>A (p.Lys452=) c.1299G>A (p.Lys433=) c.1184G>A c.927G>A (p.Lys309=) c.*1326G>A (n.*1326G>A) c.905G>A c.873G>A (p.Lys291=) c.1214G>A c.1260G>A (p.Lys420=) c.*723G>A (n.*723G>A) c.233G>A c.1137G>A (p.Lys379=) c.1248G>A (p.Lys416=) c.1302G>A (p.Lys434=) n.441G>A c.1191G>A (p.Lys397=) c.876G>A (p.Lys292=) n.1639G>A n.1474G>A | dbSNP |
| 3 | g.193643560G>C | CA355789515 | OPA1 | c.1410G>C (p.Lys470Asn) c.1245G>C (p.Lys415Asn) c.1356G>C (p.Lys452Asn) c.1299G>C (p.Lys433Asn) c.1184G>C c.927G>C (p.Lys309Asn) c.*1326G>C (n.*1326G>C) c.905G>C c.873G>C (p.Lys291Asn) c.1214G>C c.1260G>C (p.Lys420Asn) c.*723G>C (n.*723G>C) c.233G>C c.1137G>C (p.Lys379Asn) c.1248G>C (p.Lys416Asn) c.1302G>C (p.Lys434Asn) n.441G>C c.1191G>C (p.Lys397Asn) c.876G>C (p.Lys292Asn) n.1639G>C n.1474G>C | |
| 3 | g.193643560G= | CA1430245111 | OPA1 | c.1410G= (p.Lys470=) c.1245G= (p.Lys415=) c.1356G= (p.Lys452=) c.1299G= (p.Lys433=) c.1184G= c.927G= (p.Lys309=) c.*1326G= (n.*1326G=) c.905G= c.873G= (p.Lys291=) c.1214G= c.1260G= (p.Lys420=) c.*723G= (n.*723G=) c.233G= c.1137G= (p.Lys379=) c.1248G= (p.Lys416=) c.1302G= (p.Lys434=) n.441G= c.1191G= (p.Lys397=) c.876G= (p.Lys292=) n.1639G= n.1474G= | |
| 3 | g.193643560G>T | CA355789516 | OPA1 | c.1410G>T (p.Lys470Asn) c.1245G>T (p.Lys415Asn) c.1356G>T (p.Lys452Asn) c.1299G>T (p.Lys433Asn) c.1184G>T c.927G>T (p.Lys309Asn) c.*1326G>T (n.*1326G>T) c.905G>T c.873G>T (p.Lys291Asn) c.1214G>T c.1260G>T (p.Lys420Asn) c.*723G>T (n.*723G>T) c.233G>T c.1137G>T (p.Lys379Asn) c.1248G>T (p.Lys416Asn) c.1302G>T (p.Lys434Asn) n.441G>T c.1191G>T (p.Lys397Asn) c.876G>T (p.Lys292Asn) n.1639G>T n.1474G>T | |
| 3 | g.193643561G>A | CA355789517 | OPA1 | c.1411G>A (p.Glu471Lys) c.1246G>A (p.Glu416Lys) c.1357G>A (p.Glu453Lys) c.1300G>A (p.Glu434Lys) c.1185G>A c.928G>A (p.Glu310Lys) c.*1327G>A (n.*1327G>A) c.906G>A c.874G>A (p.Glu292Lys) c.1215G>A c.1261G>A (p.Glu421Lys) c.*724G>A (n.*724G>A) c.234G>A c.1138G>A (p.Glu380Lys) c.1249G>A (p.Glu417Lys) c.1303G>A (p.Glu435Lys) n.442G>A c.1192G>A (p.Glu398Lys) c.877G>A (p.Glu293Lys) n.1640G>A n.1475G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193643561G>C | CA355789518 | OPA1 | c.1411G>C (p.Glu471Gln) c.1246G>C (p.Glu416Gln) c.1357G>C (p.Glu453Gln) c.1300G>C (p.Glu434Gln) c.1185G>C c.928G>C (p.Glu310Gln) c.*1327G>C (n.*1327G>C) c.906G>C c.874G>C (p.Glu292Gln) c.1215G>C c.1261G>C (p.Glu421Gln) c.*724G>C (n.*724G>C) c.234G>C c.1138G>C (p.Glu380Gln) c.1249G>C (p.Glu417Gln) c.1303G>C (p.Glu435Gln) n.442G>C c.1192G>C (p.Glu398Gln) c.877G>C (p.Glu293Gln) n.1640G>C n.1475G>C | |
| 3 | g.193643561G= | CA1430245114 | OPA1 | c.1411G= (p.Glu471=) c.1246G= (p.Glu416=) c.1357G= (p.Glu453=) c.1300G= (p.Glu434=) c.1185G= c.928G= (p.Glu310=) c.*1327G= (n.*1327G=) c.906G= c.874G= (p.Glu292=) c.1215G= c.1261G= (p.Glu421=) c.*724G= (n.*724G=) c.234G= c.1138G= (p.Glu380=) c.1249G= (p.Glu417=) c.1303G= (p.Glu435=) n.442G= c.1192G= (p.Glu398=) c.877G= (p.Glu293=) n.1640G= n.1475G= | |
| 3 | g.193643561G>T | CA355789519 | OPA1 | c.1411G>T (p.Glu471Ter) c.1246G>T (p.Glu416Ter) c.1357G>T (p.Glu453Ter) c.1300G>T (p.Glu434Ter) c.1185G>T c.928G>T (p.Glu310Ter) c.*1327G>T (n.*1327G>T) c.906G>T c.874G>T (p.Glu292Ter) c.1215G>T c.1261G>T (p.Glu421Ter) c.*724G>T (n.*724G>T) c.234G>T c.1138G>T (p.Glu380Ter) c.1249G>T (p.Glu417Ter) c.1303G>T (p.Glu435Ter) n.442G>T c.1192G>T (p.Glu398Ter) c.877G>T (p.Glu293Ter) n.1640G>T n.1475G>T | |
| 3 | g.193643562A>C | CA355789520 | OPA1 | c.1412A>C (p.Glu471Ala) c.1247A>C (p.Glu416Ala) c.1358A>C (p.Glu453Ala) c.1301A>C (p.Glu434Ala) c.1186A>C c.929A>C (p.Glu310Ala) c.*1328A>C (n.*1328A>C) c.907A>C c.875A>C (p.Glu292Ala) c.1216A>C c.1262A>C (p.Glu421Ala) c.*725A>C (n.*725A>C) c.235A>C c.1139A>C (p.Glu380Ala) c.1250A>C (p.Glu417Ala) c.1304A>C (p.Glu435Ala) n.443A>C c.1193A>C (p.Glu398Ala) c.878A>C (p.Glu293Ala) n.1641A>C n.1476A>C | |
| 3 | g.193643562A>G | CA355789521 | OPA1 | c.1412A>G (p.Glu471Gly) c.1247A>G (p.Glu416Gly) c.1358A>G (p.Glu453Gly) c.1301A>G (p.Glu434Gly) c.1186A>G c.929A>G (p.Glu310Gly) c.*1328A>G (n.*1328A>G) c.907A>G c.875A>G (p.Glu292Gly) c.1216A>G c.1262A>G (p.Glu421Gly) c.*725A>G (n.*725A>G) c.235A>G c.1139A>G (p.Glu380Gly) c.1250A>G (p.Glu417Gly) c.1304A>G (p.Glu435Gly) n.443A>G c.1193A>G (p.Glu398Gly) c.878A>G (p.Glu293Gly) n.1641A>G n.1476A>G | |
| 3 | g.193643562A>T | CA355789522 | OPA1 | c.1412A>T (p.Glu471Val) c.1247A>T (p.Glu416Val) c.1358A>T (p.Glu453Val) c.1301A>T (p.Glu434Val) c.1186A>T c.929A>T (p.Glu310Val) c.*1328A>T (n.*1328A>T) c.907A>T c.875A>T (p.Glu292Val) c.1216A>T c.1262A>T (p.Glu421Val) c.*725A>T (n.*725A>T) c.235A>T c.1139A>T (p.Glu380Val) c.1250A>T (p.Glu417Val) c.1304A>T (p.Glu435Val) n.443A>T c.1193A>T (p.Glu398Val) c.878A>T (p.Glu293Val) n.1641A>T n.1476A>T | |
| 3 | g.193643563A>C | CA355789523 | OPA1 | c.1413A>C (p.Glu471Asp) c.1248A>C (p.Glu416Asp) c.1359A>C (p.Glu453Asp) c.1302A>C (p.Glu434Asp) c.1187A>C c.930A>C (p.Glu310Asp) c.*1329A>C (n.*1329A>C) c.908A>C c.876A>C (p.Glu292Asp) c.1217A>C c.1263A>C (p.Glu421Asp) c.*726A>C (n.*726A>C) c.236A>C c.1140A>C (p.Glu380Asp) c.1251A>C (p.Glu417Asp) c.1305A>C (p.Glu435Asp) n.444A>C c.1194A>C (p.Glu398Asp) c.879A>C (p.Glu293Asp) n.1642A>C n.1477A>C | |
| 3 | g.193643563A>G | CA437436085 | OPA1 | c.1413A>G (p.Glu471=) c.1248A>G (p.Glu416=) c.1359A>G (p.Glu453=) c.1302A>G (p.Glu434=) c.1187A>G c.930A>G (p.Glu310=) c.*1329A>G (n.*1329A>G) c.908A>G c.876A>G (p.Glu292=) c.1217A>G c.1263A>G (p.Glu421=) c.*726A>G (n.*726A>G) c.236A>G c.1140A>G (p.Glu380=) c.1251A>G (p.Glu417=) c.1305A>G (p.Glu435=) n.444A>G c.1194A>G (p.Glu398=) c.879A>G (p.Glu293=) n.1642A>G n.1477A>G | |
| 3 | g.193643563A>T | CA355789524 | OPA1 | c.1413A>T (p.Glu471Asp) c.1248A>T (p.Glu416Asp) c.1359A>T (p.Glu453Asp) c.1302A>T (p.Glu434Asp) c.1187A>T c.930A>T (p.Glu310Asp) c.*1329A>T (n.*1329A>T) c.908A>T c.876A>T (p.Glu292Asp) c.1217A>T c.1263A>T (p.Glu421Asp) c.*726A>T (n.*726A>T) c.236A>T c.1140A>T (p.Glu380Asp) c.1251A>T (p.Glu417Asp) c.1305A>T (p.Glu435Asp) n.444A>T c.1194A>T (p.Glu398Asp) c.879A>T (p.Glu293Asp) n.1642A>T n.1477A>T | |
| 3 | g.193643564A>C | CA355789525 | OPA1 | c.1414A>C (p.Thr472Pro) c.1249A>C (p.Thr417Pro) c.1360A>C (p.Thr454Pro) c.1303A>C (p.Thr435Pro) c.1188A>C c.931A>C (p.Thr311Pro) c.*1330A>C (n.*1330A>C) c.909A>C c.877A>C (p.Thr293Pro) c.1218A>C c.1264A>C (p.Thr422Pro) c.*727A>C (n.*727A>C) c.237A>C c.1141A>C (p.Thr381Pro) c.1252A>C (p.Thr418Pro) c.1306A>C (p.Thr436Pro) n.445A>C c.1195A>C (p.Thr399Pro) c.880A>C (p.Thr294Pro) n.1643A>C n.1478A>C | |
| 3 | g.193643564A>G | CA355789527 | OPA1 | c.1414A>G (p.Thr472Ala) c.1249A>G (p.Thr417Ala) c.1360A>G (p.Thr454Ala) c.1303A>G (p.Thr435Ala) c.1188A>G c.931A>G (p.Thr311Ala) c.*1330A>G (n.*1330A>G) c.909A>G c.877A>G (p.Thr293Ala) c.1218A>G c.1264A>G (p.Thr422Ala) c.*727A>G (n.*727A>G) c.237A>G c.1141A>G (p.Thr381Ala) c.1252A>G (p.Thr418Ala) c.1306A>G (p.Thr436Ala) n.445A>G c.1195A>G (p.Thr399Ala) c.880A>G (p.Thr294Ala) n.1643A>G n.1478A>G | |
| 3 | g.193643564A>T | CA355789526 | OPA1 | c.1414A>T (p.Thr472Ser) c.1249A>T (p.Thr417Ser) c.1360A>T (p.Thr454Ser) c.1303A>T (p.Thr435Ser) c.1188A>T c.931A>T (p.Thr311Ser) c.*1330A>T (n.*1330A>T) c.909A>T c.877A>T (p.Thr293Ser) c.1218A>T c.1264A>T (p.Thr422Ser) c.*727A>T (n.*727A>T) c.237A>T c.1141A>T (p.Thr381Ser) c.1252A>T (p.Thr418Ser) c.1306A>T (p.Thr436Ser) n.445A>T c.1195A>T (p.Thr399Ser) c.880A>T (p.Thr294Ser) n.1643A>T n.1478A>T | |
| 3 | g.193643565C>A | CA355789528 | OPA1 | c.1415C>A (p.Thr472Asn) c.1250C>A (p.Thr417Asn) c.1361C>A (p.Thr454Asn) c.1304C>A (p.Thr435Asn) c.1189C>A c.932C>A (p.Thr311Asn) c.*1331C>A (n.*1331C>A) c.910C>A c.878C>A (p.Thr293Asn) c.1219C>A c.1265C>A (p.Thr422Asn) c.*728C>A (n.*728C>A) c.238C>A c.1142C>A (p.Thr381Asn) c.1253C>A (p.Thr418Asn) c.1307C>A (p.Thr436Asn) n.446C>A c.1196C>A (p.Thr399Asn) c.881C>A (p.Thr294Asn) n.1644C>A n.1479C>A | |
| 3 | g.193643565C>G | CA355789529 | OPA1 | c.1415C>G (p.Thr472Ser) c.1250C>G (p.Thr417Ser) c.1361C>G (p.Thr454Ser) c.1304C>G (p.Thr435Ser) c.1189C>G c.932C>G (p.Thr311Ser) c.*1331C>G (n.*1331C>G) c.910C>G c.878C>G (p.Thr293Ser) c.1219C>G c.1265C>G (p.Thr422Ser) c.*728C>G (n.*728C>G) c.238C>G c.1142C>G (p.Thr381Ser) c.1253C>G (p.Thr418Ser) c.1307C>G (p.Thr436Ser) n.446C>G c.1196C>G (p.Thr399Ser) c.881C>G (p.Thr294Ser) n.1644C>G n.1479C>G | |
| 3 | g.193643565C>T | CA355789530 | OPA1 | c.1415C>T (p.Thr472Ile) c.1250C>T (p.Thr417Ile) c.1361C>T (p.Thr454Ile) c.1304C>T (p.Thr435Ile) c.1189C>T c.932C>T (p.Thr311Ile) c.*1331C>T (n.*1331C>T) c.910C>T c.878C>T (p.Thr293Ile) c.1219C>T c.1265C>T (p.Thr422Ile) c.*728C>T (n.*728C>T) c.238C>T c.1142C>T (p.Thr381Ile) c.1253C>T (p.Thr418Ile) c.1307C>T (p.Thr436Ile) n.446C>T c.1196C>T (p.Thr399Ile) c.881C>T (p.Thr294Ile) n.1644C>T n.1479C>T | gnomAD v4 |
| 3 | g.193643566T>A | CA437436086 | OPA1 | c.1416T>A (p.Thr472=) c.1251T>A (p.Thr417=) c.1362T>A (p.Thr454=) c.1305T>A (p.Thr435=) c.1190T>A c.933T>A (p.Thr311=) c.*1332T>A (n.*1332T>A) c.911T>A c.879T>A (p.Thr293=) c.1220T>A c.1266T>A (p.Thr422=) c.*729T>A (n.*729T>A) c.239T>A c.1143T>A (p.Thr381=) c.1254T>A (p.Thr418=) c.1308T>A (p.Thr436=) n.447T>A c.1197T>A (p.Thr399=) c.882T>A (p.Thr294=) n.1645T>A n.1480T>A | |
| 3 | g.193643566T>C | CA437436087 | OPA1 | c.1416T>C (p.Thr472=) c.1251T>C (p.Thr417=) c.1362T>C (p.Thr454=) c.1305T>C (p.Thr435=) c.1190T>C c.933T>C (p.Thr311=) c.*1332T>C (n.*1332T>C) c.911T>C c.879T>C (p.Thr293=) c.1220T>C c.1266T>C (p.Thr422=) c.*729T>C (n.*729T>C) c.239T>C c.1143T>C (p.Thr381=) c.1254T>C (p.Thr418=) c.1308T>C (p.Thr436=) n.447T>C c.1197T>C (p.Thr399=) c.882T>C (p.Thr294=) n.1645T>C n.1480T>C | |
| 3 | g.193643566T>G | CA437436088 | OPA1 | c.1416T>G (p.Thr472=) c.1251T>G (p.Thr417=) c.1362T>G (p.Thr454=) c.1305T>G (p.Thr435=) c.1190T>G c.933T>G (p.Thr311=) c.*1332T>G (n.*1332T>G) c.911T>G c.879T>G (p.Thr293=) c.1220T>G c.1266T>G (p.Thr422=) c.*729T>G (n.*729T>G) c.239T>G c.1143T>G (p.Thr381=) c.1254T>G (p.Thr418=) c.1308T>G (p.Thr436=) n.447T>G c.1197T>G (p.Thr399=) c.882T>G (p.Thr294=) n.1645T>G n.1480T>G | |
| 3 | g.193643567_193643568del | CA2580616038 | OPA1 | c.1417_1418del (p.Ile473PhefsTer12) c.1252_1253del (p.Ile418PhefsTer12) c.1363_1364del (p.Ile455PhefsTer12) c.1306_1307del (p.Ile436PhefsTer12) c.1191_1192del c.934_935del (p.Ile312PhefsTer12) c.*1333_*1334del (n.*1333_*1334del) c.912_913del c.880_881del (p.Ile294PhefsTer12) c.1221_1222del c.1267_1268del (p.Ile423PhefsTer12) c.*730_*731del (n.*730_*731del) c.240_241del c.1144_1145del (p.Ile382PhefsTer12) c.1255_1256del (p.Ile419PhefsTer12) c.1309_1310del (p.Ile437PhefsTer12) n.448_449del c.1198_1199del (p.Ile400PhefsTer12) c.883_884del (p.Ile295PhefsTer12) n.1646_1647del n.1481_1482del | ClinVar |
| 3 | g.193643567del | CA2586973456 | OPA1 | c.1417del (p.Ile473PhefsTer?) c.1252del (p.Ile418PhefsTer?) c.1363del (p.Ile455PhefsTer?) c.1306del (p.Ile436PhefsTer?) c.1191del c.934del (p.Ile312PhefsTer?) c.*1333del (n.*1333del) c.912del c.880del (p.Ile294PhefsTer?) c.1221del c.1267del (p.Ile423PhefsTer?) c.*730del (n.*730del) c.240del c.1144del (p.Ile382PhefsTer?) c.1255del (p.Ile419PhefsTer?) c.1309del (p.Ile437PhefsTer?) n.448del c.1198del (p.Ile400PhefsTer?) c.883del (p.Ile295PhefsTer?) n.1646del n.1481del | |
| 3 | g.193643567A>C | CA355789531 | OPA1 | c.1417A>C (p.Ile473Leu) c.1252A>C (p.Ile418Leu) c.1363A>C (p.Ile455Leu) c.1306A>C (p.Ile436Leu) c.1191A>C c.934A>C (p.Ile312Leu) c.*1333A>C (n.*1333A>C) c.912A>C c.880A>C (p.Ile294Leu) c.1221A>C c.1267A>C (p.Ile423Leu) c.*730A>C (n.*730A>C) c.240A>C c.1144A>C (p.Ile382Leu) c.1255A>C (p.Ile419Leu) c.1309A>C (p.Ile437Leu) n.448A>C c.1198A>C (p.Ile400Leu) c.883A>C (p.Ile295Leu) n.1646A>C n.1481A>C | |
| 3 | g.193643567A>G | CA355789532 | OPA1 | c.1417A>G (p.Ile473Val) c.1252A>G (p.Ile418Val) c.1363A>G (p.Ile455Val) c.1306A>G (p.Ile436Val) c.1191A>G c.934A>G (p.Ile312Val) c.*1333A>G (n.*1333A>G) c.912A>G c.880A>G (p.Ile294Val) c.1221A>G c.1267A>G (p.Ile423Val) c.*730A>G (n.*730A>G) c.240A>G c.1144A>G (p.Ile382Val) c.1255A>G (p.Ile419Val) c.1309A>G (p.Ile437Val) n.448A>G c.1198A>G (p.Ile400Val) c.883A>G (p.Ile295Val) n.1646A>G n.1481A>G | |
| 3 | g.193643567A>T | CA355789533 | OPA1 | c.1417A>T (p.Ile473Phe) c.1252A>T (p.Ile418Phe) c.1363A>T (p.Ile455Phe) c.1306A>T (p.Ile436Phe) c.1191A>T c.934A>T (p.Ile312Phe) c.*1333A>T (n.*1333A>T) c.912A>T c.880A>T (p.Ile294Phe) c.1221A>T c.1267A>T (p.Ile423Phe) c.*730A>T (n.*730A>T) c.240A>T c.1144A>T (p.Ile382Phe) c.1255A>T (p.Ile419Phe) c.1309A>T (p.Ile437Phe) n.448A>T c.1198A>T (p.Ile400Phe) c.883A>T (p.Ile295Phe) n.1646A>T n.1481A>T | |
| 3 | g.193643568T>A | CA355789534 | OPA1 | c.1418T>A (p.Ile473Asn) c.1253T>A (p.Ile418Asn) c.1364T>A (p.Ile455Asn) c.1307T>A (p.Ile436Asn) c.1192T>A c.935T>A (p.Ile312Asn) c.*1334T>A (n.*1334T>A) c.913T>A c.881T>A (p.Ile294Asn) c.1222T>A c.1268T>A (p.Ile423Asn) c.*731T>A (n.*731T>A) c.241T>A c.1145T>A (p.Ile382Asn) c.1256T>A (p.Ile419Asn) c.1310T>A (p.Ile437Asn) n.449T>A c.1199T>A (p.Ile400Asn) c.884T>A (p.Ile295Asn) n.1647T>A n.1482T>A | |
| 3 | g.193643568T>C | CA355789535 | OPA1 | c.1418T>C (p.Ile473Thr) c.1253T>C (p.Ile418Thr) c.1364T>C (p.Ile455Thr) c.1307T>C (p.Ile436Thr) c.1192T>C c.935T>C (p.Ile312Thr) c.*1334T>C (n.*1334T>C) c.913T>C c.881T>C (p.Ile294Thr) c.1222T>C c.1268T>C (p.Ile423Thr) c.*731T>C (n.*731T>C) c.241T>C c.1145T>C (p.Ile382Thr) c.1256T>C (p.Ile419Thr) c.1310T>C (p.Ile437Thr) n.449T>C c.1199T>C (p.Ile400Thr) c.884T>C (p.Ile295Thr) n.1647T>C n.1482T>C | |
| 3 | g.193643568T>G | CA355789536 | OPA1 | c.1418T>G (p.Ile473Ser) c.1253T>G (p.Ile418Ser) c.1364T>G (p.Ile455Ser) c.1307T>G (p.Ile436Ser) c.1192T>G c.935T>G (p.Ile312Ser) c.*1334T>G (n.*1334T>G) c.913T>G c.881T>G (p.Ile294Ser) c.1222T>G c.1268T>G (p.Ile423Ser) c.*731T>G (n.*731T>G) c.241T>G c.1145T>G (p.Ile382Ser) c.1256T>G (p.Ile419Ser) c.1310T>G (p.Ile437Ser) n.449T>G c.1199T>G (p.Ile400Ser) c.884T>G (p.Ile295Ser) n.1647T>G n.1482T>G | |
| 3 | g.193643569T>A | CA437436089 | OPA1 | c.1419T>A (p.Ile473=) c.1254T>A (p.Ile418=) c.1365T>A (p.Ile455=) c.1308T>A (p.Ile436=) c.1193T>A c.936T>A (p.Ile312=) c.*1335T>A (n.*1335T>A) c.914T>A c.882T>A (p.Ile294=) c.1223T>A c.1269T>A (p.Ile423=) c.*732T>A (n.*732T>A) c.242T>A c.1146T>A (p.Ile382=) c.1257T>A (p.Ile419=) c.1311T>A (p.Ile437=) n.450T>A c.1200T>A (p.Ile400=) c.885T>A (p.Ile295=) n.1648T>A n.1483T>A | |
| 3 | g.193643569T>C | CA437436090 | OPA1 | c.1419T>C (p.Ile473=) c.1254T>C (p.Ile418=) c.1365T>C (p.Ile455=) c.1308T>C (p.Ile436=) c.1193T>C c.936T>C (p.Ile312=) c.*1335T>C (n.*1335T>C) c.914T>C c.882T>C (p.Ile294=) c.1223T>C c.1269T>C (p.Ile423=) c.*732T>C (n.*732T>C) c.242T>C c.1146T>C (p.Ile382=) c.1257T>C (p.Ile419=) c.1311T>C (p.Ile437=) n.450T>C c.1200T>C (p.Ile400=) c.885T>C (p.Ile295=) n.1648T>C n.1483T>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.193643569T>G | CA355789537 | OPA1 | c.1419T>G (p.Ile473Met) c.1254T>G (p.Ile418Met) c.1365T>G (p.Ile455Met) c.1308T>G (p.Ile436Met) c.1193T>G c.936T>G (p.Ile312Met) c.*1335T>G (n.*1335T>G) c.914T>G c.882T>G (p.Ile294Met) c.1223T>G c.1269T>G (p.Ile423Met) c.*732T>G (n.*732T>G) c.242T>G c.1146T>G (p.Ile382Met) c.1257T>G (p.Ile419Met) c.1311T>G (p.Ile437Met) n.450T>G c.1200T>G (p.Ile400Met) c.885T>G (p.Ile295Met) n.1648T>G n.1483T>G | |
| 3 | g.193643569T= | CA1430245119 | OPA1 | c.1419T= (p.Ile473=) c.1254T= (p.Ile418=) c.1365T= (p.Ile455=) c.1308T= (p.Ile436=) c.1193T= c.936T= (p.Ile312=) c.*1335T= (n.*1335T=) c.914T= c.882T= (p.Ile294=) c.1223T= c.1269T= (p.Ile423=) c.*732T= (n.*732T=) c.242T= c.1146T= (p.Ile382=) c.1257T= (p.Ile419=) c.1311T= (p.Ile437=) n.450T= c.1200T= (p.Ile400=) c.885T= (p.Ile295=) n.1648T= n.1483T= | |
| 3 | g.193643570T>A | CA355789538 | OPA1 | c.1420T>A (p.Phe474Ile) c.1255T>A (p.Phe419Ile) c.1366T>A (p.Phe456Ile) c.1309T>A (p.Phe437Ile) c.1194T>A c.937T>A (p.Phe313Ile) c.*1336T>A (n.*1336T>A) c.915T>A c.883T>A (p.Phe295Ile) c.1224T>A c.1270T>A (p.Phe424Ile) c.*733T>A (n.*733T>A) c.243T>A c.1147T>A (p.Phe383Ile) c.1258T>A (p.Phe420Ile) c.1312T>A (p.Phe438Ile) n.451T>A c.1201T>A (p.Phe401Ile) c.886T>A (p.Phe296Ile) n.1649T>A n.1484T>A | |
| 3 | g.193643570T>C | CA355789539 | OPA1 | c.1420T>C (p.Phe474Leu) c.1255T>C (p.Phe419Leu) c.1366T>C (p.Phe456Leu) c.1309T>C (p.Phe437Leu) c.1194T>C c.937T>C (p.Phe313Leu) c.*1336T>C (n.*1336T>C) c.915T>C c.883T>C (p.Phe295Leu) c.1224T>C c.1270T>C (p.Phe424Leu) c.*733T>C (n.*733T>C) c.243T>C c.1147T>C (p.Phe383Leu) c.1258T>C (p.Phe420Leu) c.1312T>C (p.Phe438Leu) n.451T>C c.1201T>C (p.Phe401Leu) c.886T>C (p.Phe296Leu) n.1649T>C n.1484T>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.193643570T>G | CA355789540 | OPA1 | c.1420T>G (p.Phe474Val) c.1255T>G (p.Phe419Val) c.1366T>G (p.Phe456Val) c.1309T>G (p.Phe437Val) c.1194T>G c.937T>G (p.Phe313Val) c.*1336T>G (n.*1336T>G) c.915T>G c.883T>G (p.Phe295Val) c.1224T>G c.1270T>G (p.Phe424Val) c.*733T>G (n.*733T>G) c.243T>G c.1147T>G (p.Phe383Val) c.1258T>G (p.Phe420Val) c.1312T>G (p.Phe438Val) n.451T>G c.1201T>G (p.Phe401Val) c.886T>G (p.Phe296Val) n.1649T>G n.1484T>G | |
| 3 | g.193643570T= | CA1430245124 | OPA1 | c.1420T= (p.Phe474=) c.1255T= (p.Phe419=) c.1366T= (p.Phe456=) c.1309T= (p.Phe437=) c.1194T= c.937T= (p.Phe313=) c.*1336T= (n.*1336T=) c.915T= c.883T= (p.Phe295=) c.1224T= c.1270T= (p.Phe424=) c.*733T= (n.*733T=) c.243T= c.1147T= (p.Phe383=) c.1258T= (p.Phe420=) c.1312T= (p.Phe438=) n.451T= c.1201T= (p.Phe401=) c.886T= (p.Phe296=) n.1649T= n.1484T= | |
| 3 | g.193643571T>A | CA355789541 | OPA1 | c.1421T>A (p.Phe474Tyr) c.1256T>A (p.Phe419Tyr) c.1367T>A (p.Phe456Tyr) c.1310T>A (p.Phe437Tyr) c.1195T>A c.938T>A (p.Phe313Tyr) c.*1337T>A (n.*1337T>A) c.916T>A c.884T>A (p.Phe295Tyr) c.1225T>A c.1271T>A (p.Phe424Tyr) c.*734T>A (n.*734T>A) c.244T>A c.1148T>A (p.Phe383Tyr) c.1259T>A (p.Phe420Tyr) c.1313T>A (p.Phe438Tyr) n.452T>A c.1202T>A (p.Phe401Tyr) c.887T>A (p.Phe296Tyr) n.1650T>A n.1485T>A | |
| 3 | g.193643571T>C | CA355789543 | OPA1 | c.1421T>C (p.Phe474Ser) c.1256T>C (p.Phe419Ser) c.1367T>C (p.Phe456Ser) c.1310T>C (p.Phe437Ser) c.1195T>C c.938T>C (p.Phe313Ser) c.*1337T>C (n.*1337T>C) c.916T>C c.884T>C (p.Phe295Ser) c.1225T>C c.1271T>C (p.Phe424Ser) c.*734T>C (n.*734T>C) c.244T>C c.1148T>C (p.Phe383Ser) c.1259T>C (p.Phe420Ser) c.1313T>C (p.Phe438Ser) n.452T>C c.1202T>C (p.Phe401Ser) c.887T>C (p.Phe296Ser) n.1650T>C n.1485T>C | gnomAD v4 |
| 3 | g.193643571T>G | CA355789542 | OPA1 | c.1421T>G (p.Phe474Cys) c.1256T>G (p.Phe419Cys) c.1367T>G (p.Phe456Cys) c.1310T>G (p.Phe437Cys) c.1195T>G c.938T>G (p.Phe313Cys) c.*1337T>G (n.*1337T>G) c.916T>G c.884T>G (p.Phe295Cys) c.1225T>G c.1271T>G (p.Phe424Cys) c.*734T>G (n.*734T>G) c.244T>G c.1148T>G (p.Phe383Cys) c.1259T>G (p.Phe420Cys) c.1313T>G (p.Phe438Cys) n.452T>G c.1202T>G (p.Phe401Cys) c.887T>G (p.Phe296Cys) n.1650T>G n.1485T>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.193643571T= | CA1430245129 | OPA1 | c.1421T= (p.Phe474=) c.1256T= (p.Phe419=) c.1367T= (p.Phe456=) c.1310T= (p.Phe437=) c.1195T= c.938T= (p.Phe313=) c.*1337T= (n.*1337T=) c.916T= c.884T= (p.Phe295=) c.1225T= c.1271T= (p.Phe424=) c.*734T= (n.*734T=) c.244T= c.1148T= (p.Phe383=) c.1259T= (p.Phe420=) c.1313T= (p.Phe438=) n.452T= c.1202T= (p.Phe401=) c.887T= (p.Phe296=) n.1650T= n.1485T= | |
| 3 | g.193643572C>A | CA355789544 | OPA1 | c.1422C>A (p.Phe474Leu) c.1257C>A (p.Phe419Leu) c.1368C>A (p.Phe456Leu) c.1311C>A (p.Phe437Leu) c.1196C>A c.939C>A (p.Phe313Leu) c.*1338C>A (n.*1338C>A) c.917C>A c.885C>A (p.Phe295Leu) c.1226C>A c.1272C>A (p.Phe424Leu) c.*735C>A (n.*735C>A) c.245C>A c.1149C>A (p.Phe383Leu) c.1260C>A (p.Phe420Leu) c.1314C>A (p.Phe438Leu) n.453C>A c.1203C>A (p.Phe401Leu) c.888C>A (p.Phe296Leu) n.1651C>A n.1486C>A | |
| 3 | g.193643572C= | CA1430245134 | OPA1 | c.1422C= (p.Phe474=) c.1257C= (p.Phe419=) c.1368C= (p.Phe456=) c.1311C= (p.Phe437=) c.1196C= c.939C= (p.Phe313=) c.*1338C= (n.*1338C=) c.917C= c.885C= (p.Phe295=) c.1226C= c.1272C= (p.Phe424=) c.*735C= (n.*735C=) c.245C= c.1149C= (p.Phe383=) c.1260C= (p.Phe420=) c.1314C= (p.Phe438=) n.453C= c.1203C= (p.Phe401=) c.888C= (p.Phe296=) n.1651C= n.1486C= | |
| 3 | g.193643572C>G | CA355789545 | OPA1 | c.1422C>G (p.Phe474Leu) c.1257C>G (p.Phe419Leu) c.1368C>G (p.Phe456Leu) c.1311C>G (p.Phe437Leu) c.1196C>G c.939C>G (p.Phe313Leu) c.*1338C>G (n.*1338C>G) c.917C>G c.885C>G (p.Phe295Leu) c.1226C>G c.1272C>G (p.Phe424Leu) c.*735C>G (n.*735C>G) c.245C>G c.1149C>G (p.Phe383Leu) c.1260C>G (p.Phe420Leu) c.1314C>G (p.Phe438Leu) n.453C>G c.1203C>G (p.Phe401Leu) c.888C>G (p.Phe296Leu) n.1651C>G n.1486C>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.193643572C>T | CA437436091 | OPA1 | c.1422C>T (p.Phe474=) c.1257C>T (p.Phe419=) c.1368C>T (p.Phe456=) c.1311C>T (p.Phe437=) c.1196C>T c.939C>T (p.Phe313=) c.*1338C>T (n.*1338C>T) c.917C>T c.885C>T (p.Phe295=) c.1226C>T c.1272C>T (p.Phe424=) c.*735C>T (n.*735C>T) c.245C>T c.1149C>T (p.Phe383=) c.1260C>T (p.Phe420=) c.1314C>T (p.Phe438=) n.453C>T c.1203C>T (p.Phe401=) c.888C>T (p.Phe296=) n.1651C>T n.1486C>T | ClinVar |
| 3 | g.193643573A= | CA1430245141 | OPA1 | c.1423A= (p.Ser475=) c.1258A= (p.Ser420=) c.1369A= (p.Ser457=) c.1312A= (p.Ser438=) c.1197A= c.940A= (p.Ser314=) c.*1339A= (n.*1339A=) c.918A= c.886A= (p.Ser296=) c.1227A= c.1273A= (p.Ser425=) c.*736A= (n.*736A=) c.246A= c.1150A= (p.Ser384=) c.1261A= (p.Ser421=) c.1315A= (p.Ser439=) n.454A= c.1204A= (p.Ser402=) c.889A= (p.Ser297=) n.1652A= n.1487A= | |
| 3 | g.193643573A>C | CA355789546 | OPA1 | c.1423A>C (p.Ser475Arg) c.1258A>C (p.Ser420Arg) c.1369A>C (p.Ser457Arg) c.1312A>C (p.Ser438Arg) c.1197A>C c.940A>C (p.Ser314Arg) c.*1339A>C (n.*1339A>C) c.918A>C c.886A>C (p.Ser296Arg) c.1227A>C c.1273A>C (p.Ser425Arg) c.*736A>C (n.*736A>C) c.246A>C c.1150A>C (p.Ser384Arg) c.1261A>C (p.Ser421Arg) c.1315A>C (p.Ser439Arg) n.454A>C c.1204A>C (p.Ser402Arg) c.889A>C (p.Ser297Arg) n.1652A>C n.1487A>C | |
| 3 | g.193643573A>G | CA355789547 | OPA1 | c.1423A>G (p.Ser475Gly) c.1258A>G (p.Ser420Gly) c.1369A>G (p.Ser457Gly) c.1312A>G (p.Ser438Gly) c.1197A>G c.940A>G (p.Ser314Gly) c.*1339A>G (n.*1339A>G) c.918A>G c.886A>G (p.Ser296Gly) c.1227A>G c.1273A>G (p.Ser425Gly) c.*736A>G (n.*736A>G) c.246A>G c.1150A>G (p.Ser384Gly) c.1261A>G (p.Ser421Gly) c.1315A>G (p.Ser439Gly) n.454A>G c.1204A>G (p.Ser402Gly) c.889A>G (p.Ser297Gly) n.1652A>G n.1487A>G | dbSNP |
| 3 | g.193643573A>T | CA355789548 | OPA1 | c.1423A>T (p.Ser475Cys) c.1258A>T (p.Ser420Cys) c.1369A>T (p.Ser457Cys) c.1312A>T (p.Ser438Cys) c.1197A>T c.940A>T (p.Ser314Cys) c.*1339A>T (n.*1339A>T) c.918A>T c.886A>T (p.Ser296Cys) c.1227A>T c.1273A>T (p.Ser425Cys) c.*736A>T (n.*736A>T) c.246A>T c.1150A>T (p.Ser384Cys) c.1261A>T (p.Ser421Cys) c.1315A>T (p.Ser439Cys) n.454A>T c.1204A>T (p.Ser402Cys) c.889A>T (p.Ser297Cys) n.1652A>T n.1487A>T | |
| 3 | g.193643574G>A | CA355789549 | OPA1 | c.1424G>A (p.Ser475Asn) c.1259G>A (p.Ser420Asn) c.1370G>A (p.Ser457Asn) c.1313G>A (p.Ser438Asn) c.1198G>A c.941G>A (p.Ser314Asn) c.*1340G>A (n.*1340G>A) c.919G>A c.887G>A (p.Ser296Asn) c.1228G>A c.1274G>A (p.Ser425Asn) c.*737G>A (n.*737G>A) c.247G>A c.1151G>A (p.Ser384Asn) c.1262G>A (p.Ser421Asn) c.1316G>A (p.Ser439Asn) n.455G>A c.1205G>A (p.Ser402Asn) c.890G>A (p.Ser297Asn) n.1653G>A n.1488G>A | |
| 3 | g.193643574G>C | CA355789550 | OPA1 | c.1424G>C (p.Ser475Thr) c.1259G>C (p.Ser420Thr) c.1370G>C (p.Ser457Thr) c.1313G>C (p.Ser438Thr) c.1198G>C c.941G>C (p.Ser314Thr) c.*1340G>C (n.*1340G>C) c.919G>C c.887G>C (p.Ser296Thr) c.1228G>C c.1274G>C (p.Ser425Thr) c.*737G>C (n.*737G>C) c.247G>C c.1151G>C (p.Ser384Thr) c.1262G>C (p.Ser421Thr) c.1316G>C (p.Ser439Thr) n.455G>C c.1205G>C (p.Ser402Thr) c.890G>C (p.Ser297Thr) n.1653G>C n.1488G>C | |
| 3 | g.193643574G= | CA1430245144 | OPA1 | c.1424G= (p.Ser475=) c.1259G= (p.Ser420=) c.1370G= (p.Ser457=) c.1313G= (p.Ser438=) c.1198G= c.941G= (p.Ser314=) c.*1340G= (n.*1340G=) c.919G= c.887G= (p.Ser296=) c.1228G= c.1274G= (p.Ser425=) c.*737G= (n.*737G=) c.247G= c.1151G= (p.Ser384=) c.1262G= (p.Ser421=) c.1316G= (p.Ser439=) n.455G= c.1205G= (p.Ser402=) c.890G= (p.Ser297=) n.1653G= n.1488G= | |
| 3 | g.193643574G>T | CA355789551 | OPA1 | c.1424G>T (p.Ser475Ile) c.1259G>T (p.Ser420Ile) c.1370G>T (p.Ser457Ile) c.1313G>T (p.Ser438Ile) c.1198G>T c.941G>T (p.Ser314Ile) c.*1340G>T (n.*1340G>T) c.919G>T c.887G>T (p.Ser296Ile) c.1228G>T c.1274G>T (p.Ser425Ile) c.*737G>T (n.*737G>T) c.247G>T c.1151G>T (p.Ser384Ile) c.1262G>T (p.Ser421Ile) c.1316G>T (p.Ser439Ile) n.455G>T c.1205G>T (p.Ser402Ile) c.890G>T (p.Ser297Ile) n.1653G>T n.1488G>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.193643575T>A | CA355789552 | OPA1 | c.1425T>A (p.Ser475Arg) c.1260T>A (p.Ser420Arg) c.1371T>A (p.Ser457Arg) c.1314T>A (p.Ser438Arg) c.1199T>A c.942T>A (p.Ser314Arg) c.*1341T>A (n.*1341T>A) c.920T>A c.888T>A (p.Ser296Arg) c.1229T>A c.1275T>A (p.Ser425Arg) c.*738T>A (n.*738T>A) c.248T>A c.1152T>A (p.Ser384Arg) c.1263T>A (p.Ser421Arg) c.1317T>A (p.Ser439Arg) n.456T>A c.1206T>A (p.Ser402Arg) c.891T>A (p.Ser297Arg) n.1654T>A n.1489T>A | |
| 3 | g.193643575T>C | CA437436092 | OPA1 | c.1425T>C (p.Ser475=) c.1260T>C (p.Ser420=) c.1371T>C (p.Ser457=) c.1314T>C (p.Ser438=) c.1199T>C c.942T>C (p.Ser314=) c.*1341T>C (n.*1341T>C) c.920T>C c.888T>C (p.Ser296=) c.1229T>C c.1275T>C (p.Ser425=) c.*738T>C (n.*738T>C) c.248T>C c.1152T>C (p.Ser384=) c.1263T>C (p.Ser421=) c.1317T>C (p.Ser439=) n.456T>C c.1206T>C (p.Ser402=) c.891T>C (p.Ser297=) n.1654T>C n.1489T>C | |
| 3 | g.193643575T>G | CA355789553 | OPA1 | c.1425T>G (p.Ser475Arg) c.1260T>G (p.Ser420Arg) c.1371T>G (p.Ser457Arg) c.1314T>G (p.Ser438Arg) c.1199T>G c.942T>G (p.Ser314Arg) c.*1341T>G (n.*1341T>G) c.920T>G c.888T>G (p.Ser296Arg) c.1229T>G c.1275T>G (p.Ser425Arg) c.*738T>G (n.*738T>G) c.248T>G c.1152T>G (p.Ser384Arg) c.1263T>G (p.Ser421Arg) c.1317T>G (p.Ser439Arg) n.456T>G c.1206T>G (p.Ser402Arg) c.891T>G (p.Ser297Arg) n.1654T>G n.1489T>G | |
| 3 | g.193643576A>C | CA355789554 | OPA1 | c.1426A>C (p.Ile476Leu) c.1261A>C (p.Ile421Leu) c.1372A>C (p.Ile458Leu) c.1315A>C (p.Ile439Leu) c.1200A>C c.943A>C (p.Ile315Leu) c.*1342A>C (n.*1342A>C) c.921A>C c.889A>C (p.Ile297Leu) c.1230A>C c.1276A>C (p.Ile426Leu) c.*739A>C (n.*739A>C) c.249A>C c.1153A>C (p.Ile385Leu) c.1264A>C (p.Ile422Leu) c.1318A>C (p.Ile440Leu) n.457A>C c.1207A>C (p.Ile403Leu) c.892A>C (p.Ile298Leu) n.1655A>C n.1490A>C | |
| 3 | g.193643576A>G | CA355789556 | OPA1 | c.1426A>G (p.Ile476Val) c.1261A>G (p.Ile421Val) c.1372A>G (p.Ile458Val) c.1315A>G (p.Ile439Val) c.1200A>G c.943A>G (p.Ile315Val) c.*1342A>G (n.*1342A>G) c.921A>G c.889A>G (p.Ile297Val) c.1230A>G c.1276A>G (p.Ile426Val) c.*739A>G (n.*739A>G) c.249A>G c.1153A>G (p.Ile385Val) c.1264A>G (p.Ile422Val) c.1318A>G (p.Ile440Val) n.457A>G c.1207A>G (p.Ile403Val) c.892A>G (p.Ile298Val) n.1655A>G n.1490A>G | |
| 3 | g.193643576A>T | CA355789555 | OPA1 | c.1426A>T (p.Ile476Phe) c.1261A>T (p.Ile421Phe) c.1372A>T (p.Ile458Phe) c.1315A>T (p.Ile439Phe) c.1200A>T c.943A>T (p.Ile315Phe) c.*1342A>T (n.*1342A>T) c.921A>T c.889A>T (p.Ile297Phe) c.1230A>T c.1276A>T (p.Ile426Phe) c.*739A>T (n.*739A>T) c.249A>T c.1153A>T (p.Ile385Phe) c.1264A>T (p.Ile422Phe) c.1318A>T (p.Ile440Phe) n.457A>T c.1207A>T (p.Ile403Phe) c.892A>T (p.Ile298Phe) n.1655A>T n.1490A>T | |
| 3 | g.193643577_193643579dup | CA2586973457 | OPA1 | c.1427_1429dup (p.Ile476_Ser477insIle) c.1262_1264dup (p.Ile421_Ser422insIle) c.1373_1375dup (p.Ile458_Ser459insIle) c.1316_1318dup (p.Ile439_Ser440insIle) c.1201_1203dup c.944_946dup (p.Ile315_Ser316insIle) c.*1343_*1345dup (n.*1343_*1345dup) c.922_924dup c.890_892dup (p.Ile297_Ser298insIle) c.1231_1233dup c.1277_1279dup (p.Ile426_Ser427insIle) c.*740_*742dup (n.*740_*742dup) c.250_252dup c.1154_1156dup (p.Ile385_Ser386insIle) c.1265_1267dup (p.Ile422_Ser423insIle) c.1319_1321dup (p.Ile440_Ser441insIle) n.458_460dup c.1208_1210dup (p.Ile403_Ser404insIle) c.893_895dup (p.Ile298_Ser299insIle) n.1656_1658dup n.1491_1493dup | |
| 3 | g.193643577T>A | CA355789557 | OPA1 | c.1427T>A (p.Ile476Asn) c.1262T>A (p.Ile421Asn) c.1373T>A (p.Ile458Asn) c.1316T>A (p.Ile439Asn) c.1201T>A c.944T>A (p.Ile315Asn) c.*1343T>A (n.*1343T>A) c.922T>A c.890T>A (p.Ile297Asn) c.1231T>A c.1277T>A (p.Ile426Asn) c.*740T>A (n.*740T>A) c.250T>A c.1154T>A (p.Ile385Asn) c.1265T>A (p.Ile422Asn) c.1319T>A (p.Ile440Asn) n.458T>A c.1208T>A (p.Ile403Asn) c.893T>A (p.Ile298Asn) n.1656T>A n.1491T>A | |
| 3 | g.193643577T>C | CA355789559 | OPA1 | c.1427T>C (p.Ile476Thr) c.1262T>C (p.Ile421Thr) c.1373T>C (p.Ile458Thr) c.1316T>C (p.Ile439Thr) c.1201T>C c.944T>C (p.Ile315Thr) c.*1343T>C (n.*1343T>C) c.922T>C c.890T>C (p.Ile297Thr) c.1231T>C c.1277T>C (p.Ile426Thr) c.*740T>C (n.*740T>C) c.250T>C c.1154T>C (p.Ile385Thr) c.1265T>C (p.Ile422Thr) c.1319T>C (p.Ile440Thr) n.458T>C c.1208T>C (p.Ile403Thr) c.893T>C (p.Ile298Thr) n.1656T>C n.1491T>C | |
| 3 | g.193643577T>G | CA355789558 | OPA1 | c.1427T>G (p.Ile476Ser) c.1262T>G (p.Ile421Ser) c.1373T>G (p.Ile458Ser) c.1316T>G (p.Ile439Ser) c.1201T>G c.944T>G (p.Ile315Ser) c.*1343T>G (n.*1343T>G) c.922T>G c.890T>G (p.Ile297Ser) c.1231T>G c.1277T>G (p.Ile426Ser) c.*740T>G (n.*740T>G) c.250T>G c.1154T>G (p.Ile385Ser) c.1265T>G (p.Ile422Ser) c.1319T>G (p.Ile440Ser) n.458T>G c.1208T>G (p.Ile403Ser) c.893T>G (p.Ile298Ser) n.1656T>G n.1491T>G | |
| 3 | g.193643578C>A | CA437436093 | OPA1 | c.1428C>A (p.Ile476=) c.1263C>A (p.Ile421=) c.1374C>A (p.Ile458=) c.1317C>A (p.Ile439=) c.1202C>A c.945C>A (p.Ile315=) c.*1344C>A (n.*1344C>A) c.923C>A c.891C>A (p.Ile297=) c.1232C>A c.1278C>A (p.Ile426=) c.*741C>A (n.*741C>A) c.251C>A c.1155C>A (p.Ile385=) c.1266C>A (p.Ile422=) c.1320C>A (p.Ile440=) n.459C>A c.1209C>A (p.Ile403=) c.894C>A (p.Ile298=) n.1657C>A n.1492C>A | |
| 3 | g.193643578C>G | CA355789560 | OPA1 | c.1428C>G (p.Ile476Met) c.1263C>G (p.Ile421Met) c.1374C>G (p.Ile458Met) c.1317C>G (p.Ile439Met) c.1202C>G c.945C>G (p.Ile315Met) c.*1344C>G (n.*1344C>G) c.923C>G c.891C>G (p.Ile297Met) c.1232C>G c.1278C>G (p.Ile426Met) c.*741C>G (n.*741C>G) c.251C>G c.1155C>G (p.Ile385Met) c.1266C>G (p.Ile422Met) c.1320C>G (p.Ile440Met) n.459C>G c.1209C>G (p.Ile403Met) c.894C>G (p.Ile298Met) n.1657C>G n.1492C>G | |
| 3 | g.193643578C>T | CA437436094 | OPA1 | c.1428C>T (p.Ile476=) c.1263C>T (p.Ile421=) c.1374C>T (p.Ile458=) c.1317C>T (p.Ile439=) c.1202C>T c.945C>T (p.Ile315=) c.*1344C>T (n.*1344C>T) c.923C>T c.891C>T (p.Ile297=) c.1232C>T c.1278C>T (p.Ile426=) c.*741C>T (n.*741C>T) c.251C>T c.1155C>T (p.Ile385=) c.1266C>T (p.Ile422=) c.1320C>T (p.Ile440=) n.459C>T c.1209C>T (p.Ile403=) c.894C>T (p.Ile298=) n.1657C>T n.1492C>T | |
| 3 | g.193643579A= | CA1430245146 | OPA1 | c.1429A= (p.Ser477=) c.1264A= (p.Ser422=) c.1375A= (p.Ser459=) c.1318A= (p.Ser440=) c.1203A= c.946A= (p.Ser316=) c.*1345A= (n.*1345A=) c.924A= c.892A= (p.Ser298=) c.1233A= c.1279A= (p.Ser427=) c.*742A= (n.*742A=) c.252A= c.1156A= (p.Ser386=) c.1267A= (p.Ser423=) c.1321A= (p.Ser441=) n.460A= c.1210A= (p.Ser404=) c.895A= (p.Ser299=) n.1658A= n.1493A= | |
| 3 | g.193643579A>C | CA355789563 | OPA1 | c.1429A>C (p.Ser477Arg) c.1264A>C (p.Ser422Arg) c.1375A>C (p.Ser459Arg) c.1318A>C (p.Ser440Arg) c.1203A>C c.946A>C (p.Ser316Arg) c.*1345A>C (n.*1345A>C) c.924A>C c.892A>C (p.Ser298Arg) c.1233A>C c.1279A>C (p.Ser427Arg) c.*742A>C (n.*742A>C) c.252A>C c.1156A>C (p.Ser386Arg) c.1267A>C (p.Ser423Arg) c.1321A>C (p.Ser441Arg) n.460A>C c.1210A>C (p.Ser404Arg) c.895A>C (p.Ser299Arg) n.1658A>C n.1493A>C | |
| 3 | g.193643579A>G | CA355789561 | OPA1 | c.1429A>G (p.Ser477Gly) c.1264A>G (p.Ser422Gly) c.1375A>G (p.Ser459Gly) c.1318A>G (p.Ser440Gly) c.1203A>G c.946A>G (p.Ser316Gly) c.*1345A>G (n.*1345A>G) c.924A>G c.892A>G (p.Ser298Gly) c.1233A>G c.1279A>G (p.Ser427Gly) c.*742A>G (n.*742A>G) c.252A>G c.1156A>G (p.Ser386Gly) c.1267A>G (p.Ser423Gly) c.1321A>G (p.Ser441Gly) n.460A>G c.1210A>G (p.Ser404Gly) c.895A>G (p.Ser299Gly) n.1658A>G n.1493A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.193643579A>T | CA355789562 | OPA1 | c.1429A>T (p.Ser477Cys) c.1264A>T (p.Ser422Cys) c.1375A>T (p.Ser459Cys) c.1318A>T (p.Ser440Cys) c.1203A>T c.946A>T (p.Ser316Cys) c.*1345A>T (n.*1345A>T) c.924A>T c.892A>T (p.Ser298Cys) c.1233A>T c.1279A>T (p.Ser427Cys) c.*742A>T (n.*742A>T) c.252A>T c.1156A>T (p.Ser386Cys) c.1267A>T (p.Ser423Cys) c.1321A>T (p.Ser441Cys) n.460A>T c.1210A>T (p.Ser404Cys) c.895A>T (p.Ser299Cys) n.1658A>T n.1493A>T | |
| 3 | g.193643580G>A | CA355789564 | OPA1 | c.1430G>A (p.Ser477Asn) c.1265G>A (p.Ser422Asn) c.1376G>A (p.Ser459Asn) c.1319G>A (p.Ser440Asn) c.1204G>A c.947G>A (p.Ser316Asn) c.*1346G>A (n.*1346G>A) c.925G>A c.893G>A (p.Ser298Asn) c.1234G>A c.1280G>A (p.Ser427Asn) c.*743G>A (n.*743G>A) c.253G>A c.1157G>A (p.Ser386Asn) c.1268G>A (p.Ser423Asn) c.1322G>A (p.Ser441Asn) n.461G>A c.1211G>A (p.Ser404Asn) c.896G>A (p.Ser299Asn) n.1659G>A n.1494G>A | gnomAD v4 |
| 3 | g.193643580G>C | CA355789565 | OPA1 | c.1430G>C (p.Ser477Thr) c.1265G>C (p.Ser422Thr) c.1376G>C (p.Ser459Thr) c.1319G>C (p.Ser440Thr) c.1204G>C c.947G>C (p.Ser316Thr) c.*1346G>C (n.*1346G>C) c.925G>C c.893G>C (p.Ser298Thr) c.1234G>C c.1280G>C (p.Ser427Thr) c.*743G>C (n.*743G>C) c.253G>C c.1157G>C (p.Ser386Thr) c.1268G>C (p.Ser423Thr) c.1322G>C (p.Ser441Thr) n.461G>C c.1211G>C (p.Ser404Thr) c.896G>C (p.Ser299Thr) n.1659G>C n.1494G>C | |
| 3 | g.193643580G>T | CA355789566 | OPA1 | c.1430G>T (p.Ser477Ile) c.1265G>T (p.Ser422Ile) c.1376G>T (p.Ser459Ile) c.1319G>T (p.Ser440Ile) c.1204G>T c.947G>T (p.Ser316Ile) c.*1346G>T (n.*1346G>T) c.925G>T c.893G>T (p.Ser298Ile) c.1234G>T c.1280G>T (p.Ser427Ile) c.*743G>T (n.*743G>T) c.253G>T c.1157G>T (p.Ser386Ile) c.1268G>T (p.Ser423Ile) c.1322G>T (p.Ser441Ile) n.461G>T c.1211G>T (p.Ser404Ile) c.896G>T (p.Ser299Ile) n.1659G>T n.1494G>T | |
| 3 | g.193643581C>A | CA355789567 | OPA1 | c.1431C>A (p.Ser477Arg) c.1266C>A (p.Ser422Arg) c.1377C>A (p.Ser459Arg) c.1320C>A (p.Ser440Arg) c.1205C>A c.948C>A (p.Ser316Arg) c.*1347C>A (n.*1347C>A) c.926C>A c.894C>A (p.Ser298Arg) c.1235C>A c.1281C>A (p.Ser427Arg) c.*744C>A (n.*744C>A) c.254C>A c.1158C>A (p.Ser386Arg) c.1269C>A (p.Ser423Arg) c.1323C>A (p.Ser441Arg) n.462C>A c.1212C>A (p.Ser404Arg) c.897C>A (p.Ser299Arg) n.1660C>A n.1495C>A | |
| 3 | g.193643581C= | CA1430245152 | OPA1 | c.1431C= (p.Ser477=) c.1266C= (p.Ser422=) c.1377C= (p.Ser459=) c.1320C= (p.Ser440=) c.1205C= c.948C= (p.Ser316=) c.*1347C= (n.*1347C=) c.926C= c.894C= (p.Ser298=) c.1235C= c.1281C= (p.Ser427=) c.*744C= (n.*744C=) c.254C= c.1158C= (p.Ser386=) c.1269C= (p.Ser423=) c.1323C= (p.Ser441=) n.462C= c.1212C= (p.Ser404=) c.897C= (p.Ser299=) n.1660C= n.1495C= | |
| 3 | g.193643581C>G | CA355789568 | OPA1 | c.1431C>G (p.Ser477Arg) c.1266C>G (p.Ser422Arg) c.1377C>G (p.Ser459Arg) c.1320C>G (p.Ser440Arg) c.1205C>G c.948C>G (p.Ser316Arg) c.*1347C>G (n.*1347C>G) c.926C>G c.894C>G (p.Ser298Arg) c.1235C>G c.1281C>G (p.Ser427Arg) c.*744C>G (n.*744C>G) c.254C>G c.1158C>G (p.Ser386Arg) c.1269C>G (p.Ser423Arg) c.1323C>G (p.Ser441Arg) n.462C>G c.1212C>G (p.Ser404Arg) c.897C>G (p.Ser299Arg) n.1660C>G n.1495C>G | ClinVar dbSNP |
| 3 | g.193643581C>T | CA437436095 | OPA1 | c.1431C>T (p.Ser477=) c.1266C>T (p.Ser422=) c.1377C>T (p.Ser459=) c.1320C>T (p.Ser440=) c.1205C>T c.948C>T (p.Ser316=) c.*1347C>T (n.*1347C>T) c.926C>T c.894C>T (p.Ser298=) c.1235C>T c.1281C>T (p.Ser427=) c.*744C>T (n.*744C>T) c.254C>T c.1158C>T (p.Ser386=) c.1269C>T (p.Ser423=) c.1323C>T (p.Ser441=) n.462C>T c.1212C>T (p.Ser404=) c.897C>T (p.Ser299=) n.1660C>T n.1495C>T | ClinVar |
| 3 | g.193643582A>C | CA355789569 | OPA1 | c.1432A>C (p.Lys478Gln) c.1267A>C (p.Lys423Gln) c.1378A>C (p.Lys460Gln) c.1321A>C (p.Lys441Gln) c.1206A>C c.949A>C (p.Lys317Gln) c.*1348A>C (n.*1348A>C) c.927A>C c.895A>C (p.Lys299Gln) c.1236A>C c.1282A>C (p.Lys428Gln) c.*745A>C (n.*745A>C) c.255A>C c.1159A>C (p.Lys387Gln) c.1270A>C (p.Lys424Gln) c.1324A>C (p.Lys442Gln) n.463A>C c.1213A>C (p.Lys405Gln) c.898A>C (p.Lys300Gln) n.1661A>C n.1496A>C | |
| 3 | g.193643582A>G | CA355789570 | OPA1 | c.1432A>G (p.Lys478Glu) c.1267A>G (p.Lys423Glu) c.1378A>G (p.Lys460Glu) c.1321A>G (p.Lys441Glu) c.1206A>G c.949A>G (p.Lys317Glu) c.*1348A>G (n.*1348A>G) c.927A>G c.895A>G (p.Lys299Glu) c.1236A>G c.1282A>G (p.Lys428Glu) c.*745A>G (n.*745A>G) c.255A>G c.1159A>G (p.Lys387Glu) c.1270A>G (p.Lys424Glu) c.1324A>G (p.Lys442Glu) n.463A>G c.1213A>G (p.Lys405Glu) c.898A>G (p.Lys300Glu) n.1661A>G n.1496A>G | |
| 3 | g.193643582A>T | CA355789571 | OPA1 | c.1432A>T (p.Lys478Ter) c.1267A>T (p.Lys423Ter) c.1378A>T (p.Lys460Ter) c.1321A>T (p.Lys441Ter) c.1206A>T c.949A>T (p.Lys317Ter) c.*1348A>T (n.*1348A>T) c.927A>T c.895A>T (p.Lys299Ter) c.1236A>T c.1282A>T (p.Lys428Ter) c.*745A>T (n.*745A>T) c.255A>T c.1159A>T (p.Lys387Ter) c.1270A>T (p.Lys424Ter) c.1324A>T (p.Lys442Ter) n.463A>T c.1213A>T (p.Lys405Ter) c.898A>T (p.Lys300Ter) n.1661A>T n.1496A>T | |
| 3 | g.193643583A>C | CA355789574 | OPA1 | c.1433A>C (p.Lys478Thr) c.1268A>C (p.Lys423Thr) c.1379A>C (p.Lys460Thr) c.1322A>C (p.Lys441Thr) c.1207A>C c.950A>C (p.Lys317Thr) c.*1349A>C (n.*1349A>C) c.928A>C c.896A>C (p.Lys299Thr) c.1237A>C c.1283A>C (p.Lys428Thr) c.*746A>C (n.*746A>C) c.256A>C c.1160A>C (p.Lys387Thr) c.1271A>C (p.Lys424Thr) c.1325A>C (p.Lys442Thr) n.464A>C c.1214A>C (p.Lys405Thr) c.899A>C (p.Lys300Thr) n.1662A>C n.1497A>C | |
| 3 | g.193643583A>G | CA355789573 | OPA1 | c.1433A>G (p.Lys478Arg) c.1268A>G (p.Lys423Arg) c.1379A>G (p.Lys460Arg) c.1322A>G (p.Lys441Arg) c.1207A>G c.950A>G (p.Lys317Arg) c.*1349A>G (n.*1349A>G) c.928A>G c.896A>G (p.Lys299Arg) c.1237A>G c.1283A>G (p.Lys428Arg) c.*746A>G (n.*746A>G) c.256A>G c.1160A>G (p.Lys387Arg) c.1271A>G (p.Lys424Arg) c.1325A>G (p.Lys442Arg) n.464A>G c.1214A>G (p.Lys405Arg) c.899A>G (p.Lys300Arg) n.1662A>G n.1497A>G | COSMIC |
| 3 | g.193643583A>T | CA355789572 | OPA1 | c.1433A>T (p.Lys478Ile) c.1268A>T (p.Lys423Ile) c.1379A>T (p.Lys460Ile) c.1322A>T (p.Lys441Ile) c.1207A>T c.950A>T (p.Lys317Ile) c.*1349A>T (n.*1349A>T) c.928A>T c.896A>T (p.Lys299Ile) c.1237A>T c.1283A>T (p.Lys428Ile) c.*746A>T (n.*746A>T) c.256A>T c.1160A>T (p.Lys387Ile) c.1271A>T (p.Lys424Ile) c.1325A>T (p.Lys442Ile) n.464A>T c.1214A>T (p.Lys405Ile) c.899A>T (p.Lys300Ile) n.1662A>T n.1497A>T | |
| 3 | g.193643584A>C | CA355789575 | OPA1 | c.1434A>C (p.Lys478Asn) c.1269A>C (p.Lys423Asn) c.1380A>C (p.Lys460Asn) c.1323A>C (p.Lys441Asn) c.1208A>C c.951A>C (p.Lys317Asn) c.*1350A>C (n.*1350A>C) c.929A>C c.897A>C (p.Lys299Asn) c.1238A>C c.1284A>C (p.Lys428Asn) c.*747A>C (n.*747A>C) c.257A>C c.1161A>C (p.Lys387Asn) c.1272A>C (p.Lys424Asn) c.1326A>C (p.Lys442Asn) n.465A>C c.1215A>C (p.Lys405Asn) c.900A>C (p.Lys300Asn) n.1663A>C n.1498A>C | |
| 3 | g.193643584A>G | CA437436096 | OPA1 | c.1434A>G (p.Lys478=) c.1269A>G (p.Lys423=) c.1380A>G (p.Lys460=) c.1323A>G (p.Lys441=) c.1208A>G c.951A>G (p.Lys317=) c.*1350A>G (n.*1350A>G) c.929A>G c.897A>G (p.Lys299=) c.1238A>G c.1284A>G (p.Lys428=) c.*747A>G (n.*747A>G) c.257A>G c.1161A>G (p.Lys387=) c.1272A>G (p.Lys424=) c.1326A>G (p.Lys442=) n.465A>G c.1215A>G (p.Lys405=) c.900A>G (p.Lys300=) n.1663A>G n.1498A>G | |
| 3 | g.193643584A>T | CA355789576 | OPA1 | c.1434A>T (p.Lys478Asn) c.1269A>T (p.Lys423Asn) c.1380A>T (p.Lys460Asn) c.1323A>T (p.Lys441Asn) c.1208A>T c.951A>T (p.Lys317Asn) c.*1350A>T (n.*1350A>T) c.929A>T c.897A>T (p.Lys299Asn) c.1238A>T c.1284A>T (p.Lys428Asn) c.*747A>T (n.*747A>T) c.257A>T c.1161A>T (p.Lys387Asn) c.1272A>T (p.Lys424Asn) c.1326A>T (p.Lys442Asn) n.465A>T c.1215A>T (p.Lys405Asn) c.900A>T (p.Lys300Asn) n.1663A>T n.1498A>T | |
| 3 | g.193643585G>A | CA355789577 | OPA1 | c.1435G>A (p.Ala479Thr) c.1270G>A (p.Ala424Thr) c.1381G>A (p.Ala461Thr) c.1324G>A (p.Ala442Thr) c.1209G>A c.952G>A (p.Ala318Thr) c.*1351G>A (n.*1351G>A) c.930G>A c.898G>A (p.Ala300Thr) c.1239G>A c.1285G>A (p.Ala429Thr) c.*748G>A (n.*748G>A) c.258G>A c.1162G>A (p.Ala388Thr) c.1273G>A (p.Ala425Thr) c.1327G>A (p.Ala443Thr) n.466G>A c.1216G>A (p.Ala406Thr) c.901G>A (p.Ala301Thr) n.1664G>A n.1499G>A | |
| 3 | g.193643585G>C | CA355789578 | OPA1 | c.1435G>C (p.Ala479Pro) c.1270G>C (p.Ala424Pro) c.1381G>C (p.Ala461Pro) c.1324G>C (p.Ala442Pro) c.1209G>C c.952G>C (p.Ala318Pro) c.*1351G>C (n.*1351G>C) c.930G>C c.898G>C (p.Ala300Pro) c.1239G>C c.1285G>C (p.Ala429Pro) c.*748G>C (n.*748G>C) c.258G>C c.1162G>C (p.Ala388Pro) c.1273G>C (p.Ala425Pro) c.1327G>C (p.Ala443Pro) n.466G>C c.1216G>C (p.Ala406Pro) c.901G>C (p.Ala301Pro) n.1664G>C n.1499G>C | |
| 3 | g.193643585G>T | CA355789579 | OPA1 | c.1435G>T (p.Ala479Ser) c.1270G>T (p.Ala424Ser) c.1381G>T (p.Ala461Ser) c.1324G>T (p.Ala442Ser) c.1209G>T c.952G>T (p.Ala318Ser) c.*1351G>T (n.*1351G>T) c.930G>T c.898G>T (p.Ala300Ser) c.1239G>T c.1285G>T (p.Ala429Ser) c.*748G>T (n.*748G>T) c.258G>T c.1162G>T (p.Ala388Ser) c.1273G>T (p.Ala425Ser) c.1327G>T (p.Ala443Ser) n.466G>T c.1216G>T (p.Ala406Ser) c.901G>T (p.Ala301Ser) n.1664G>T n.1499G>T | |
| 3 | g.193643586C>A | CA355789580 | OPA1 | c.1436C>A (p.Ala479Asp) c.1271C>A (p.Ala424Asp) c.1382C>A (p.Ala461Asp) c.1325C>A (p.Ala442Asp) c.1210C>A c.953C>A (p.Ala318Asp) c.*1352C>A (n.*1352C>A) c.931C>A c.899C>A (p.Ala300Asp) c.1240C>A c.1286C>A (p.Ala429Asp) c.*749C>A (n.*749C>A) c.259C>A c.1163C>A (p.Ala388Asp) c.1274C>A (p.Ala425Asp) c.1328C>A (p.Ala443Asp) n.467C>A c.1217C>A (p.Ala406Asp) c.902C>A (p.Ala301Asp) n.1665C>A n.1500C>A | |
| 3 | g.193643586C>G | CA355789581 | OPA1 | c.1436C>G (p.Ala479Gly) c.1271C>G (p.Ala424Gly) c.1382C>G (p.Ala461Gly) c.1325C>G (p.Ala442Gly) c.1210C>G c.953C>G (p.Ala318Gly) c.*1352C>G (n.*1352C>G) c.931C>G c.899C>G (p.Ala300Gly) c.1240C>G c.1286C>G (p.Ala429Gly) c.*749C>G (n.*749C>G) c.259C>G c.1163C>G (p.Ala388Gly) c.1274C>G (p.Ala425Gly) c.1328C>G (p.Ala443Gly) n.467C>G c.1217C>G (p.Ala406Gly) c.902C>G (p.Ala301Gly) n.1665C>G n.1500C>G | |
| 3 | g.193643586C>T | CA355789582 | OPA1 | c.1436C>T (p.Ala479Val) c.1271C>T (p.Ala424Val) c.1382C>T (p.Ala461Val) c.1325C>T (p.Ala442Val) c.1210C>T c.953C>T (p.Ala318Val) c.*1352C>T (n.*1352C>T) c.931C>T c.899C>T (p.Ala300Val) c.1240C>T c.1286C>T (p.Ala429Val) c.*749C>T (n.*749C>T) c.259C>T c.1163C>T (p.Ala388Val) c.1274C>T (p.Ala425Val) c.1328C>T (p.Ala443Val) n.467C>T c.1217C>T (p.Ala406Val) c.902C>T (p.Ala301Val) n.1665C>T n.1500C>T | |
| 3 | g.193643587T>A | CA437436097 | OPA1 | c.1437T>A (p.Ala479=) c.1272T>A (p.Ala424=) c.1383T>A (p.Ala461=) c.1326T>A (p.Ala442=) c.1211T>A c.954T>A (p.Ala318=) c.*1353T>A (n.*1353T>A) c.932T>A c.900T>A (p.Ala300=) c.1241T>A c.1287T>A (p.Ala429=) c.*750T>A (n.*750T>A) c.260T>A c.1164T>A (p.Ala388=) c.1275T>A (p.Ala425=) c.1329T>A (p.Ala443=) n.468T>A c.1218T>A (p.Ala406=) c.903T>A (p.Ala301=) n.1666T>A n.1501T>A | |
| 3 | g.193643587T>C | CA437436098 | OPA1 | c.1437T>C (p.Ala479=) c.1272T>C (p.Ala424=) c.1383T>C (p.Ala461=) c.1326T>C (p.Ala442=) c.1211T>C c.954T>C (p.Ala318=) c.*1353T>C (n.*1353T>C) c.932T>C c.900T>C (p.Ala300=) c.1241T>C c.1287T>C (p.Ala429=) c.*750T>C (n.*750T>C) c.260T>C c.1164T>C (p.Ala388=) c.1275T>C (p.Ala425=) c.1329T>C (p.Ala443=) n.468T>C c.1218T>C (p.Ala406=) c.903T>C (p.Ala301=) n.1666T>C n.1501T>C | |
| 3 | g.193643587T>G | CA437436099 | OPA1 | c.1437T>G (p.Ala479=) c.1272T>G (p.Ala424=) c.1383T>G (p.Ala461=) c.1326T>G (p.Ala442=) c.1211T>G c.954T>G (p.Ala318=) c.*1353T>G (n.*1353T>G) c.932T>G c.900T>G (p.Ala300=) c.1241T>G c.1287T>G (p.Ala429=) c.*750T>G (n.*750T>G) c.260T>G c.1164T>G (p.Ala388=) c.1275T>G (p.Ala425=) c.1329T>G (p.Ala443=) n.468T>G c.1218T>G (p.Ala406=) c.903T>G (p.Ala301=) n.1666T>G n.1501T>G | |
| 3 | g.193643588T>A | CA355789583 | OPA1 | c.1438T>A (p.Tyr480Asn) c.1273T>A (p.Tyr425Asn) c.1384T>A (p.Tyr462Asn) c.1327T>A (p.Tyr443Asn) c.1212T>A c.955T>A (p.Tyr319Asn) c.*1354T>A (n.*1354T>A) c.933T>A c.901T>A (p.Tyr301Asn) c.1242T>A c.1288T>A (p.Tyr430Asn) c.*751T>A (n.*751T>A) c.261T>A c.1165T>A (p.Tyr389Asn) c.1276T>A (p.Tyr426Asn) c.1330T>A (p.Tyr444Asn) n.469T>A c.1219T>A (p.Tyr407Asn) c.904T>A (p.Tyr302Asn) n.1667T>A n.1502T>A | gnomAD v4 |
| 3 | g.193643588T>C | CA355789584 | OPA1 | c.1438T>C (p.Tyr480His) c.1273T>C (p.Tyr425His) c.1384T>C (p.Tyr462His) c.1327T>C (p.Tyr443His) c.1212T>C c.955T>C (p.Tyr319His) c.*1354T>C (n.*1354T>C) c.933T>C c.901T>C (p.Tyr301His) c.1242T>C c.1288T>C (p.Tyr430His) c.*751T>C (n.*751T>C) c.261T>C c.1165T>C (p.Tyr389His) c.1276T>C (p.Tyr426His) c.1330T>C (p.Tyr444His) n.469T>C c.1219T>C (p.Tyr407His) c.904T>C (p.Tyr302His) n.1667T>C n.1502T>C | |
| 3 | g.193643588T>G | CA355789585 | OPA1 | c.1438T>G (p.Tyr480Asp) c.1273T>G (p.Tyr425Asp) c.1384T>G (p.Tyr462Asp) c.1327T>G (p.Tyr443Asp) c.1212T>G c.955T>G (p.Tyr319Asp) c.*1354T>G (n.*1354T>G) c.933T>G c.901T>G (p.Tyr301Asp) c.1242T>G c.1288T>G (p.Tyr430Asp) c.*751T>G (n.*751T>G) c.261T>G c.1165T>G (p.Tyr389Asp) c.1276T>G (p.Tyr426Asp) c.1330T>G (p.Tyr444Asp) n.469T>G c.1219T>G (p.Tyr407Asp) c.904T>G (p.Tyr302Asp) n.1667T>G n.1502T>G | |
| 3 | g.193643589A>C | CA355789587 | OPA1 | c.1439A>C (p.Tyr480Ser) c.1274A>C (p.Tyr425Ser) c.1385A>C (p.Tyr462Ser) c.1328A>C (p.Tyr443Ser) c.1213A>C c.956A>C (p.Tyr319Ser) c.*1355A>C (n.*1355A>C) c.934A>C c.902A>C (p.Tyr301Ser) c.1243A>C c.1289A>C (p.Tyr430Ser) c.*752A>C (n.*752A>C) c.262A>C c.1166A>C (p.Tyr389Ser) c.1277A>C (p.Tyr426Ser) c.1331A>C (p.Tyr444Ser) n.470A>C c.1220A>C (p.Tyr407Ser) c.905A>C (p.Tyr302Ser) n.1668A>C n.1503A>C | |
| 3 | g.193643589A>G | CA355789588 | OPA1 | c.1439A>G (p.Tyr480Cys) c.1274A>G (p.Tyr425Cys) c.1385A>G (p.Tyr462Cys) c.1328A>G (p.Tyr443Cys) c.1213A>G c.956A>G (p.Tyr319Cys) c.*1355A>G (n.*1355A>G) c.934A>G c.902A>G (p.Tyr301Cys) c.1243A>G c.1289A>G (p.Tyr430Cys) c.*752A>G (n.*752A>G) c.262A>G c.1166A>G (p.Tyr389Cys) c.1277A>G (p.Tyr426Cys) c.1331A>G (p.Tyr444Cys) n.470A>G c.1220A>G (p.Tyr407Cys) c.905A>G (p.Tyr302Cys) n.1668A>G n.1503A>G | |
| 3 | g.193643589A>T | CA355789586 | OPA1 | c.1439A>T (p.Tyr480Phe) c.1274A>T (p.Tyr425Phe) c.1385A>T (p.Tyr462Phe) c.1328A>T (p.Tyr443Phe) c.1213A>T c.956A>T (p.Tyr319Phe) c.*1355A>T (n.*1355A>T) c.934A>T c.902A>T (p.Tyr301Phe) c.1243A>T c.1289A>T (p.Tyr430Phe) c.*752A>T (n.*752A>T) c.262A>T c.1166A>T (p.Tyr389Phe) c.1277A>T (p.Tyr426Phe) c.1331A>T (p.Tyr444Phe) n.470A>T c.1220A>T (p.Tyr407Phe) c.905A>T (p.Tyr302Phe) n.1668A>T n.1503A>T | |
| 3 | g.193643590C>A | CA355789589 | OPA1 | c.1440C>A (p.Tyr480Ter) c.1275C>A (p.Tyr425Ter) c.1386C>A (p.Tyr462Ter) c.1329C>A (p.Tyr443Ter) c.1214C>A c.957C>A (p.Tyr319Ter) c.*1356C>A (n.*1356C>A) c.935C>A c.903C>A (p.Tyr301Ter) c.1244C>A c.1290C>A (p.Tyr430Ter) c.*753C>A (n.*753C>A) c.263C>A c.1167C>A (p.Tyr389Ter) c.1278C>A (p.Tyr426Ter) c.1332C>A (p.Tyr444Ter) n.471C>A c.1221C>A (p.Tyr407Ter) c.906C>A (p.Tyr302Ter) n.1669C>A n.1504C>A | |
| 3 | g.193643590C>G | CA355789590 | OPA1 | c.1440C>G (p.Tyr480Ter) c.1275C>G (p.Tyr425Ter) c.1386C>G (p.Tyr462Ter) c.1329C>G (p.Tyr443Ter) c.1214C>G c.957C>G (p.Tyr319Ter) c.*1356C>G (n.*1356C>G) c.935C>G c.903C>G (p.Tyr301Ter) c.1244C>G c.1290C>G (p.Tyr430Ter) c.*753C>G (n.*753C>G) c.263C>G c.1167C>G (p.Tyr389Ter) c.1278C>G (p.Tyr426Ter) c.1332C>G (p.Tyr444Ter) n.471C>G c.1221C>G (p.Tyr407Ter) c.906C>G (p.Tyr302Ter) n.1669C>G n.1504C>G | |
| 3 | g.193643590C>T | CA437436107 | OPA1 | c.1440C>T (p.Tyr480=) c.1275C>T (p.Tyr425=) c.1386C>T (p.Tyr462=) c.1329C>T (p.Tyr443=) c.1214C>T c.957C>T (p.Tyr319=) c.*1356C>T (n.*1356C>T) c.935C>T c.903C>T (p.Tyr301=) c.1244C>T c.1290C>T (p.Tyr430=) c.*753C>T (n.*753C>T) c.263C>T c.1167C>T (p.Tyr389=) c.1278C>T (p.Tyr426=) c.1332C>T (p.Tyr444=) n.471C>T c.1221C>T (p.Tyr407=) c.906C>T (p.Tyr302=) n.1669C>T n.1504C>T | |
| 3 | g.193643591A= | CA1430245155 | OPA1 | c.1441A= (p.Met481=) c.1276A= (p.Met426=) c.1387A= (p.Met463=) c.1330A= (p.Met444=) c.1215A= c.958A= (p.Met320=) c.*1357A= (n.*1357A=) c.936A= c.904A= (p.Met302=) c.1245A= c.1291A= (p.Met431=) c.*754A= (n.*754A=) c.264A= c.1168A= (p.Met390=) c.1279A= (p.Met427=) c.1333A= (p.Met445=) n.472A= c.1222A= (p.Met408=) c.907A= (p.Met303=) n.1670A= n.1505A= | |
| 3 | g.193643591A>C | CA355789591 | OPA1 | c.1441A>C (p.Met481Leu) c.1276A>C (p.Met426Leu) c.1387A>C (p.Met463Leu) c.1330A>C (p.Met444Leu) c.1215A>C c.958A>C (p.Met320Leu) c.*1357A>C (n.*1357A>C) c.936A>C c.904A>C (p.Met302Leu) c.1245A>C c.1291A>C (p.Met431Leu) c.*754A>C (n.*754A>C) c.264A>C c.1168A>C (p.Met390Leu) c.1279A>C (p.Met427Leu) c.1333A>C (p.Met445Leu) n.472A>C c.1222A>C (p.Met408Leu) c.907A>C (p.Met303Leu) n.1670A>C n.1505A>C | gnomAD v4 |
| 3 | g.193643591A>G | CA355789592 | OPA1 | c.1441A>G (p.Met481Val) c.1276A>G (p.Met426Val) c.1387A>G (p.Met463Val) c.1330A>G (p.Met444Val) c.1215A>G c.958A>G (p.Met320Val) c.*1357A>G (n.*1357A>G) c.936A>G c.904A>G (p.Met302Val) c.1245A>G c.1291A>G (p.Met431Val) c.*754A>G (n.*754A>G) c.264A>G c.1168A>G (p.Met390Val) c.1279A>G (p.Met427Val) c.1333A>G (p.Met445Val) n.472A>G c.1222A>G (p.Met408Val) c.907A>G (p.Met303Val) n.1670A>G n.1505A>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.193643591A>T | CA2759374 | OPA1 | c.1441A>T (p.Met481Leu) c.1276A>T (p.Met426Leu) c.1387A>T (p.Met463Leu) c.1330A>T (p.Met444Leu) c.1215A>T c.958A>T (p.Met320Leu) c.*1357A>T (n.*1357A>T) c.936A>T c.904A>T (p.Met302Leu) c.1245A>T c.1291A>T (p.Met431Leu) c.*754A>T (n.*754A>T) c.264A>T c.1168A>T (p.Met390Leu) c.1279A>T (p.Met427Leu) c.1333A>T (p.Met445Leu) n.472A>T c.1222A>T (p.Met408Leu) c.907A>T (p.Met303Leu) n.1670A>T n.1505A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.193643591_193643592insAAAATGGTATTCT | CA548822196 | OPA1 | c.1441_1442insAAAATGGTATTCT (p.Met481LysfsTer9) c.1276_1277insAAAATGGTATTCT (p.Met426LysfsTer9) c.1387_1388insAAAATGGTATTCT (p.Met463LysfsTer9) c.1330_1331insAAAATGGTATTCT (p.Met444LysfsTer9) c.1215_1216insAAAATGGTATTCT c.958_959insAAAATGGTATTCT (p.Met320LysfsTer9) c.*1357_*1358insAAAATGGTATTCT (n.*1357_*1358insAAAATGGTATTCT) c.936_937insAAAATGGTATTCT c.904_905insAAAATGGTATTCT (p.Met302LysfsTer9) c.1245_1246insAAAATGGTATTCT c.1291_1292insAAAATGGTATTCT (p.Met431LysfsTer9) c.*754_*755insAAAATGGTATTCT (n.*754_*755insAAAATGGTATTCT) c.264_265insAAAATGGTATTCT c.1168_1169insAAAATGGTATTCT (p.Met390LysfsTer9) c.1279_1280insAAAATGGTATTCT (p.Met427LysfsTer9) c.1333_1334insAAAATGGTATTCT (p.Met445LysfsTer9) n.472_473insAAAATGGTATTCT c.1222_1223insAAAATGGTATTCT (p.Met408LysfsTer9) c.907_908insAAAATGGTATTCT (p.Met303LysfsTer9) n.1670_1671insAAAATGGTATTCT n.1505_1506insAAAATGGTATTCT | gnomAD v2 |
| 3 | g.193643592T>A | CA355789593 | OPA1 | c.1442T>A (p.Met481Lys) c.1277T>A (p.Met426Lys) c.1388T>A (p.Met463Lys) c.1331T>A (p.Met444Lys) c.1216T>A c.959T>A (p.Met320Lys) c.*1358T>A (n.*1358T>A) c.937T>A c.905T>A (p.Met302Lys) c.1246T>A c.1292T>A (p.Met431Lys) c.*755T>A (n.*755T>A) c.265T>A c.1169T>A (p.Met390Lys) c.1280T>A (p.Met427Lys) c.1334T>A (p.Met445Lys) n.473T>A c.1223T>A (p.Met408Lys) c.908T>A (p.Met303Lys) n.1671T>A n.1506T>A | |
| 3 | g.193643592T>C | CA355789594 | OPA1 | c.1442T>C (p.Met481Thr) c.1277T>C (p.Met426Thr) c.1388T>C (p.Met463Thr) c.1331T>C (p.Met444Thr) c.1216T>C c.959T>C (p.Met320Thr) c.*1358T>C (n.*1358T>C) c.937T>C c.905T>C (p.Met302Thr) c.1246T>C c.1292T>C (p.Met431Thr) c.*755T>C (n.*755T>C) c.265T>C c.1169T>C (p.Met390Thr) c.1280T>C (p.Met427Thr) c.1334T>C (p.Met445Thr) n.473T>C c.1223T>C (p.Met408Thr) c.908T>C (p.Met303Thr) n.1671T>C n.1506T>C | |
| 3 | g.193643592T>G | CA355789595 | OPA1 | c.1442T>G (p.Met481Arg) c.1277T>G (p.Met426Arg) c.1388T>G (p.Met463Arg) c.1331T>G (p.Met444Arg) c.1216T>G c.959T>G (p.Met320Arg) c.*1358T>G (n.*1358T>G) c.937T>G c.905T>G (p.Met302Arg) c.1246T>G c.1292T>G (p.Met431Arg) c.*755T>G (n.*755T>G) c.265T>G c.1169T>G (p.Met390Arg) c.1280T>G (p.Met427Arg) c.1334T>G (p.Met445Arg) n.473T>G c.1223T>G (p.Met408Arg) c.908T>G (p.Met303Arg) n.1671T>G n.1506T>G | ClinVar |
| 3 | g.193643593G>A | CA355789596 | OPA1 | c.1443G>A (p.Met481Ile) c.1278G>A (p.Met426Ile) c.1389G>A (p.Met463Ile) c.1332G>A (p.Met444Ile) c.1217G>A c.960G>A (p.Met320Ile) c.*1359G>A (n.*1359G>A) c.938G>A c.906G>A (p.Met302Ile) c.1247G>A c.1293G>A (p.Met431Ile) c.*756G>A (n.*756G>A) c.266G>A c.1170G>A (p.Met390Ile) c.1281G>A (p.Met427Ile) c.1335G>A (p.Met445Ile) n.474G>A c.1224G>A (p.Met408Ile) c.909G>A (p.Met303Ile) n.1672G>A n.1507G>A | |
| 3 | g.193643593G>C | CA355789597 | OPA1 | c.1443G>C (p.Met481Ile) c.1278G>C (p.Met426Ile) c.1389G>C (p.Met463Ile) c.1332G>C (p.Met444Ile) c.1217G>C c.960G>C (p.Met320Ile) c.*1359G>C (n.*1359G>C) c.938G>C c.906G>C (p.Met302Ile) c.1247G>C c.1293G>C (p.Met431Ile) c.*756G>C (n.*756G>C) c.266G>C c.1170G>C (p.Met390Ile) c.1281G>C (p.Met427Ile) c.1335G>C (p.Met445Ile) n.474G>C c.1224G>C (p.Met408Ile) c.909G>C (p.Met303Ile) n.1672G>C n.1507G>C | |
| 3 | g.193643593G>T | CA355789598 | OPA1 | c.1443G>T (p.Met481Ile) c.1278G>T (p.Met426Ile) c.1389G>T (p.Met463Ile) c.1332G>T (p.Met444Ile) c.1217G>T c.960G>T (p.Met320Ile) c.*1359G>T (n.*1359G>T) c.938G>T c.906G>T (p.Met302Ile) c.1247G>T c.1293G>T (p.Met431Ile) c.*756G>T (n.*756G>T) c.266G>T c.1170G>T (p.Met390Ile) c.1281G>T (p.Met427Ile) c.1335G>T (p.Met445Ile) n.474G>T c.1224G>T (p.Met408Ile) c.909G>T (p.Met303Ile) n.1672G>T n.1507G>T | |
| 3 | g.193643593dup | CA2573136854 | OPA1 | c.1443dup (p.Gln482AlafsTer4) c.1278dup (p.Gln427AlafsTer4) c.1389dup (p.Gln464AlafsTer4) c.1332dup (p.Gln445AlafsTer4) c.1217dup c.960dup (p.Gln321AlafsTer4) c.*1359dup (n.*1359dup) c.938dup c.906dup (p.Gln303AlafsTer4) c.1247dup c.1293dup (p.Gln432AlafsTer4) c.*756dup (n.*756dup) c.266dup c.1170dup (p.Gln391AlafsTer4) c.1281dup (p.Gln428AlafsTer4) c.1335dup (p.Gln446AlafsTer4) n.474dup c.1224dup (p.Gln409AlafsTer4) c.909dup (p.Gln304AlafsTer4) n.1672dup n.1507dup | ClinVar dbSNP |
| 3 | g.193643594C>A | CA2759375 | OPA1 | c.1444C>A (p.Gln482Lys) c.1279C>A (p.Gln427Lys) c.1390C>A (p.Gln464Lys) c.1333C>A (p.Gln445Lys) c.1218C>A c.961C>A (p.Gln321Lys) c.*1360C>A (n.*1360C>A) c.939C>A c.907C>A (p.Gln303Lys) c.1248C>A c.1294C>A (p.Gln432Lys) c.*757C>A (n.*757C>A) c.267C>A c.1171C>A (p.Gln391Lys) c.1282C>A (p.Gln428Lys) c.1336C>A (p.Gln446Lys) n.475C>A c.1225C>A (p.Gln409Lys) c.910C>A (p.Gln304Lys) n.1673C>A n.1508C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193643594C= | CA1430245157 | OPA1 | c.1444C= (p.Gln482=) c.1279C= (p.Gln427=) c.1390C= (p.Gln464=) c.1333C= (p.Gln445=) c.1218C= c.961C= (p.Gln321=) c.*1360C= (n.*1360C=) c.939C= c.907C= (p.Gln303=) c.1248C= c.1294C= (p.Gln432=) c.*757C= (n.*757C=) c.267C= c.1171C= (p.Gln391=) c.1282C= (p.Gln428=) c.1336C= (p.Gln446=) n.475C= c.1225C= (p.Gln409=) c.910C= (p.Gln304=) n.1673C= n.1508C= | |
| 3 | g.193643594C>G | CA355789600 | OPA1 | c.1444C>G (p.Gln482Glu) c.1279C>G (p.Gln427Glu) c.1390C>G (p.Gln464Glu) c.1333C>G (p.Gln445Glu) c.1218C>G c.961C>G (p.Gln321Glu) c.*1360C>G (n.*1360C>G) c.939C>G c.907C>G (p.Gln303Glu) c.1248C>G c.1294C>G (p.Gln432Glu) c.*757C>G (n.*757C>G) c.267C>G c.1171C>G (p.Gln391Glu) c.1282C>G (p.Gln428Glu) c.1336C>G (p.Gln446Glu) n.475C>G c.1225C>G (p.Gln409Glu) c.910C>G (p.Gln304Glu) n.1673C>G n.1508C>G | |
| 3 | g.193643594C>T | CA355789599 | OPA1 | c.1444C>T (p.Gln482Ter) c.1279C>T (p.Gln427Ter) c.1390C>T (p.Gln464Ter) c.1333C>T (p.Gln445Ter) c.1218C>T c.961C>T (p.Gln321Ter) c.*1360C>T (n.*1360C>T) c.939C>T c.907C>T (p.Gln303Ter) c.1248C>T c.1294C>T (p.Gln432Ter) c.*757C>T (n.*757C>T) c.267C>T c.1171C>T (p.Gln391Ter) c.1282C>T (p.Gln428Ter) c.1336C>T (p.Gln446Ter) n.475C>T c.1225C>T (p.Gln409Ter) c.910C>T (p.Gln304Ter) n.1673C>T n.1508C>T | ClinVar |
| 3 | g.193643595A= | CA1430245160 | OPA1 | c.1445A= (p.Gln482=) c.1280A= (p.Gln427=) c.1391A= (p.Gln464=) c.1334A= (p.Gln445=) c.1219A= c.962A= (p.Gln321=) c.*1361A= (n.*1361A=) c.940A= c.908A= (p.Gln303=) c.1249A= c.1295A= (p.Gln432=) c.*758A= (n.*758A=) c.268A= c.1172A= (p.Gln391=) c.1283A= (p.Gln428=) c.1337A= (p.Gln446=) n.476A= c.1226A= (p.Gln409=) c.911A= (p.Gln304=) n.1674A= n.1509A= | |
| 3 | g.193643595A>C | CA355789601 | OPA1 | c.1445A>C (p.Gln482Pro) c.1280A>C (p.Gln427Pro) c.1391A>C (p.Gln464Pro) c.1334A>C (p.Gln445Pro) c.1219A>C c.962A>C (p.Gln321Pro) c.*1361A>C (n.*1361A>C) c.940A>C c.908A>C (p.Gln303Pro) c.1249A>C c.1295A>C (p.Gln432Pro) c.*758A>C (n.*758A>C) c.268A>C c.1172A>C (p.Gln391Pro) c.1283A>C (p.Gln428Pro) c.1337A>C (p.Gln446Pro) n.476A>C c.1226A>C (p.Gln409Pro) c.911A>C (p.Gln304Pro) n.1674A>C n.1509A>C | |
| 3 | g.193643595A>G | CA355789602 | OPA1 | c.1445A>G (p.Gln482Arg) c.1280A>G (p.Gln427Arg) c.1391A>G (p.Gln464Arg) c.1334A>G (p.Gln445Arg) c.1219A>G c.962A>G (p.Gln321Arg) c.*1361A>G (n.*1361A>G) c.940A>G c.908A>G (p.Gln303Arg) c.1249A>G c.1295A>G (p.Gln432Arg) c.*758A>G (n.*758A>G) c.268A>G c.1172A>G (p.Gln391Arg) c.1283A>G (p.Gln428Arg) c.1337A>G (p.Gln446Arg) n.476A>G c.1226A>G (p.Gln409Arg) c.911A>G (p.Gln304Arg) n.1674A>G n.1509A>G | dbSNP gnomAD v4 |
| 3 | g.193643595A>T | CA355789603 | OPA1 | c.1445A>T (p.Gln482Leu) c.1280A>T (p.Gln427Leu) c.1391A>T (p.Gln464Leu) c.1334A>T (p.Gln445Leu) c.1219A>T c.962A>T (p.Gln321Leu) c.*1361A>T (n.*1361A>T) c.940A>T c.908A>T (p.Gln303Leu) c.1249A>T c.1295A>T (p.Gln432Leu) c.*758A>T (n.*758A>T) c.268A>T c.1172A>T (p.Gln391Leu) c.1283A>T (p.Gln428Leu) c.1337A>T (p.Gln446Leu) n.476A>T c.1226A>T (p.Gln409Leu) c.911A>T (p.Gln304Leu) n.1674A>T n.1509A>T | |
| 3 | g.193643596G>A | CA437436119 | OPA1 | c.1446G>A (p.Gln482=) c.1281G>A (p.Gln427=) c.1392G>A (p.Gln464=) c.1335G>A (p.Gln445=) c.1220G>A c.963G>A (p.Gln321=) c.*1362G>A (n.*1362G>A) c.941G>A c.909G>A (p.Gln303=) c.1250G>A c.1296G>A (p.Gln432=) c.*759G>A (n.*759G>A) c.269G>A c.1173G>A (p.Gln391=) c.1284G>A (p.Gln428=) c.1338G>A (p.Gln446=) n.477G>A c.1227G>A (p.Gln409=) c.912G>A (p.Gln304=) n.1675G>A n.1510G>A | dbSNP |
| 3 | g.193643596G>C | CA355789604 | OPA1 | c.1446G>C (p.Gln482His) c.1281G>C (p.Gln427His) c.1392G>C (p.Gln464His) c.1335G>C (p.Gln445His) c.1220G>C c.963G>C (p.Gln321His) c.*1362G>C (n.*1362G>C) c.941G>C c.909G>C (p.Gln303His) c.1250G>C c.1296G>C (p.Gln432His) c.*759G>C (n.*759G>C) c.269G>C c.1173G>C (p.Gln391His) c.1284G>C (p.Gln428His) c.1338G>C (p.Gln446His) n.477G>C c.1227G>C (p.Gln409His) c.912G>C (p.Gln304His) n.1675G>C n.1510G>C | COSMIC |
| 3 | g.193643596G= | CA1430245165 | OPA1 | c.1446G= (p.Gln482=) c.1281G= (p.Gln427=) c.1392G= (p.Gln464=) c.1335G= (p.Gln445=) c.1220G= c.963G= (p.Gln321=) c.*1362G= (n.*1362G=) c.941G= c.909G= (p.Gln303=) c.1250G= c.1296G= (p.Gln432=) c.*759G= (n.*759G=) c.269G= c.1173G= (p.Gln391=) c.1284G= (p.Gln428=) c.1338G= (p.Gln446=) n.477G= c.1227G= (p.Gln409=) c.912G= (p.Gln304=) n.1675G= n.1510G= | |
| 3 | g.193643596G>T | CA355789605 | OPA1 | c.1446G>T (p.Gln482His) c.1281G>T (p.Gln427His) c.1392G>T (p.Gln464His) c.1335G>T (p.Gln445His) c.1220G>T c.963G>T (p.Gln321His) c.*1362G>T (n.*1362G>T) c.941G>T c.909G>T (p.Gln303His) c.1250G>T c.1296G>T (p.Gln432His) c.*759G>T (n.*759G>T) c.269G>T c.1173G>T (p.Gln391His) c.1284G>T (p.Gln428His) c.1338G>T (p.Gln446His) n.477G>T c.1227G>T (p.Gln409His) c.912G>T (p.Gln304His) n.1675G>T n.1510G>T | |
| 3 | g.193643597A>C | CA355789606 | OPA1 | c.1447A>C (p.Asn483His) c.1282A>C (p.Asn428His) c.1393A>C (p.Asn465His) c.1336A>C (p.Asn446His) c.1221A>C c.964A>C (p.Asn322His) c.*1363A>C (n.*1363A>C) c.942A>C c.910A>C (p.Asn304His) c.1251A>C c.1297A>C (p.Asn433His) c.*760A>C (n.*760A>C) c.270A>C c.1174A>C (p.Asn392His) c.1285A>C (p.Asn429His) c.1339A>C (p.Asn447His) n.478A>C c.1228A>C (p.Asn410His) c.913A>C (p.Asn305His) n.1676A>C n.1511A>C | |
| 3 | g.193643597A>G | CA355789607 | OPA1 | c.1447A>G (p.Asn483Asp) c.1282A>G (p.Asn428Asp) c.1393A>G (p.Asn465Asp) c.1336A>G (p.Asn446Asp) c.1221A>G c.964A>G (p.Asn322Asp) c.*1363A>G (n.*1363A>G) c.942A>G c.910A>G (p.Asn304Asp) c.1251A>G c.1297A>G (p.Asn433Asp) c.*760A>G (n.*760A>G) c.270A>G c.1174A>G (p.Asn392Asp) c.1285A>G (p.Asn429Asp) c.1339A>G (p.Asn447Asp) n.478A>G c.1228A>G (p.Asn410Asp) c.913A>G (p.Asn305Asp) n.1676A>G n.1511A>G | |
| 3 | g.193643597A>T | CA355789608 | OPA1 | c.1447A>T (p.Asn483Tyr) c.1282A>T (p.Asn428Tyr) c.1393A>T (p.Asn465Tyr) c.1336A>T (p.Asn446Tyr) c.1221A>T c.964A>T (p.Asn322Tyr) c.*1363A>T (n.*1363A>T) c.942A>T c.910A>T (p.Asn304Tyr) c.1251A>T c.1297A>T (p.Asn433Tyr) c.*760A>T (n.*760A>T) c.270A>T c.1174A>T (p.Asn392Tyr) c.1285A>T (p.Asn429Tyr) c.1339A>T (p.Asn447Tyr) n.478A>T c.1228A>T (p.Asn410Tyr) c.913A>T (p.Asn305Tyr) n.1676A>T n.1511A>T | |
| 3 | g.193643600_193643605del | CA2586973458 | OPA1 | c.1450_1455del (p.Pro484_Asn485del) c.1285_1290del (p.Pro429_Asn430del) c.1396_1401del (p.Pro466_Asn467del) c.1339_1344del (p.Pro447_Asn448del) c.1224_1229del c.967_972del (p.Pro323_Asn324del) c.*1366_*1371del (n.*1366_*1371del) c.945_950del c.913_918del (p.Pro305_Asn306del) c.1254_1259del c.1300_1305del (p.Pro434_Asn435del) c.*763_*768del (n.*763_*768del) c.273_278del c.1177_1182del (p.Pro393_Asn394del) c.1288_1293del (p.Pro430_Asn431del) c.1342_1347del (p.Pro448_Asn449del) n.481_486del c.1231_1236del (p.Pro411_Asn412del) c.916_921del (p.Pro306_Asn307del) n.1679_1684del n.1514_1519del | |
| 3 | g.193643598A>C | CA355789609 | OPA1 | c.1448A>C (p.Asn483Thr) c.1283A>C (p.Asn428Thr) c.1394A>C (p.Asn465Thr) c.1337A>C (p.Asn446Thr) c.1222A>C c.965A>C (p.Asn322Thr) c.*1364A>C (n.*1364A>C) c.943A>C c.911A>C (p.Asn304Thr) c.1252A>C c.1298A>C (p.Asn433Thr) c.*761A>C (n.*761A>C) c.271A>C c.1175A>C (p.Asn392Thr) c.1286A>C (p.Asn429Thr) c.1340A>C (p.Asn447Thr) n.479A>C c.1229A>C (p.Asn410Thr) c.914A>C (p.Asn305Thr) n.1677A>C n.1512A>C | ClinVar |
| 3 | g.193643598A>G | CA355789610 | OPA1 | c.1448A>G (p.Asn483Ser) c.1283A>G (p.Asn428Ser) c.1394A>G (p.Asn465Ser) c.1337A>G (p.Asn446Ser) c.1222A>G c.965A>G (p.Asn322Ser) c.*1364A>G (n.*1364A>G) c.943A>G c.911A>G (p.Asn304Ser) c.1252A>G c.1298A>G (p.Asn433Ser) c.*761A>G (n.*761A>G) c.271A>G c.1175A>G (p.Asn392Ser) c.1286A>G (p.Asn429Ser) c.1340A>G (p.Asn447Ser) n.479A>G c.1229A>G (p.Asn410Ser) c.914A>G (p.Asn305Ser) n.1677A>G n.1512A>G | |
| 3 | g.193643598A>T | CA355789611 | OPA1 | c.1448A>T (p.Asn483Ile) c.1283A>T (p.Asn428Ile) c.1394A>T (p.Asn465Ile) c.1337A>T (p.Asn446Ile) c.1222A>T c.965A>T (p.Asn322Ile) c.*1364A>T (n.*1364A>T) c.943A>T c.911A>T (p.Asn304Ile) c.1252A>T c.1298A>T (p.Asn433Ile) c.*761A>T (n.*761A>T) c.271A>T c.1175A>T (p.Asn392Ile) c.1286A>T (p.Asn429Ile) c.1340A>T (p.Asn447Ile) n.479A>T c.1229A>T (p.Asn410Ile) c.914A>T (p.Asn305Ile) n.1677A>T n.1512A>T | |
| 3 | g.193643599T>A | CA355789612 | OPA1 | c.1449T>A (p.Asn483Lys) c.1284T>A (p.Asn428Lys) c.1395T>A (p.Asn465Lys) c.1338T>A (p.Asn446Lys) c.1223T>A c.966T>A (p.Asn322Lys) c.*1365T>A (n.*1365T>A) c.944T>A c.912T>A (p.Asn304Lys) c.1253T>A c.1299T>A (p.Asn433Lys) c.*762T>A (n.*762T>A) c.272T>A c.1176T>A (p.Asn392Lys) c.1287T>A (p.Asn429Lys) c.1341T>A (p.Asn447Lys) n.480T>A c.1230T>A (p.Asn410Lys) c.915T>A (p.Asn305Lys) n.1678T>A n.1513T>A | |
| 3 | g.193643599T>C | CA437436128 | OPA1 | c.1449T>C (p.Asn483=) c.1284T>C (p.Asn428=) c.1395T>C (p.Asn465=) c.1338T>C (p.Asn446=) c.1223T>C c.966T>C (p.Asn322=) c.*1365T>C (n.*1365T>C) c.944T>C c.912T>C (p.Asn304=) c.1253T>C c.1299T>C (p.Asn433=) c.*762T>C (n.*762T>C) c.272T>C c.1176T>C (p.Asn392=) c.1287T>C (p.Asn429=) c.1341T>C (p.Asn447=) n.480T>C c.1230T>C (p.Asn410=) c.915T>C (p.Asn305=) n.1678T>C n.1513T>C | |
| 3 | g.193643599T>G | CA355789613 | OPA1 | c.1449T>G (p.Asn483Lys) c.1284T>G (p.Asn428Lys) c.1395T>G (p.Asn465Lys) c.1338T>G (p.Asn446Lys) c.1223T>G c.966T>G (p.Asn322Lys) c.*1365T>G (n.*1365T>G) c.944T>G c.912T>G (p.Asn304Lys) c.1253T>G c.1299T>G (p.Asn433Lys) c.*762T>G (n.*762T>G) c.272T>G c.1176T>G (p.Asn392Lys) c.1287T>G (p.Asn429Lys) c.1341T>G (p.Asn447Lys) n.480T>G c.1230T>G (p.Asn410Lys) c.915T>G (p.Asn305Lys) n.1678T>G n.1513T>G | |
| 3 | g.193643600C>A | CA355789615 | OPA1 | c.1450C>A (p.Pro484Thr) c.1285C>A (p.Pro429Thr) c.1396C>A (p.Pro466Thr) c.1339C>A (p.Pro447Thr) c.1224C>A c.967C>A (p.Pro323Thr) c.*1366C>A (n.*1366C>A) c.945C>A c.913C>A (p.Pro305Thr) c.1254C>A c.1300C>A (p.Pro434Thr) c.*763C>A (n.*763C>A) c.273C>A c.1177C>A (p.Pro393Thr) c.1288C>A (p.Pro430Thr) c.1342C>A (p.Pro448Thr) n.481C>A c.1231C>A (p.Pro411Thr) c.916C>A (p.Pro306Thr) n.1679C>A n.1514C>A | |
| 3 | g.193643600C= | CA1430245167 | OPA1 | c.1450C= (p.Pro484=) c.1285C= (p.Pro429=) c.1396C= (p.Pro466=) c.1339C= (p.Pro447=) c.1224C= c.967C= (p.Pro323=) c.*1366C= (n.*1366C=) c.945C= c.913C= (p.Pro305=) c.1254C= c.1300C= (p.Pro434=) c.*763C= (n.*763C=) c.273C= c.1177C= (p.Pro393=) c.1288C= (p.Pro430=) c.1342C= (p.Pro448=) n.481C= c.1231C= (p.Pro411=) c.916C= (p.Pro306=) n.1679C= n.1514C= | |
| 3 | g.193643600C>G | CA355789616 | OPA1 | c.1450C>G (p.Pro484Ala) c.1285C>G (p.Pro429Ala) c.1396C>G (p.Pro466Ala) c.1339C>G (p.Pro447Ala) c.1224C>G c.967C>G (p.Pro323Ala) c.*1366C>G (n.*1366C>G) c.945C>G c.913C>G (p.Pro305Ala) c.1254C>G c.1300C>G (p.Pro434Ala) c.*763C>G (n.*763C>G) c.273C>G c.1177C>G (p.Pro393Ala) c.1288C>G (p.Pro430Ala) c.1342C>G (p.Pro448Ala) n.481C>G c.1231C>G (p.Pro411Ala) c.916C>G (p.Pro306Ala) n.1679C>G n.1514C>G | dbSNP |
| 3 | g.193643600C>T | CA355789614 | OPA1 | c.1450C>T (p.Pro484Ser) c.1285C>T (p.Pro429Ser) c.1396C>T (p.Pro466Ser) c.1339C>T (p.Pro447Ser) c.1224C>T c.967C>T (p.Pro323Ser) c.*1366C>T (n.*1366C>T) c.945C>T c.913C>T (p.Pro305Ser) c.1254C>T c.1300C>T (p.Pro434Ser) c.*763C>T (n.*763C>T) c.273C>T c.1177C>T (p.Pro393Ser) c.1288C>T (p.Pro430Ser) c.1342C>T (p.Pro448Ser) n.481C>T c.1231C>T (p.Pro411Ser) c.916C>T (p.Pro306Ser) n.1679C>T n.1514C>T | |
| 3 | g.193643601C>A | CA355789619 | OPA1 | c.1451C>A (p.Pro484His) c.1286C>A (p.Pro429His) c.1397C>A (p.Pro466His) c.1340C>A (p.Pro447His) c.1225C>A c.968C>A (p.Pro323His) c.*1367C>A (n.*1367C>A) c.946C>A c.914C>A (p.Pro305His) c.1255C>A c.1301C>A (p.Pro434His) c.*764C>A (n.*764C>A) c.274C>A c.1178C>A (p.Pro393His) c.1289C>A (p.Pro430His) c.1343C>A (p.Pro448His) n.482C>A c.1232C>A (p.Pro411His) c.917C>A (p.Pro306His) n.1680C>A n.1515C>A | |
| 3 | g.193643601C>G | CA355789617 | OPA1 | c.1451C>G (p.Pro484Arg) c.1286C>G (p.Pro429Arg) c.1397C>G (p.Pro466Arg) c.1340C>G (p.Pro447Arg) c.1225C>G c.968C>G (p.Pro323Arg) c.*1367C>G (n.*1367C>G) c.946C>G c.914C>G (p.Pro305Arg) c.1255C>G c.1301C>G (p.Pro434Arg) c.*764C>G (n.*764C>G) c.274C>G c.1178C>G (p.Pro393Arg) c.1289C>G (p.Pro430Arg) c.1343C>G (p.Pro448Arg) n.482C>G c.1232C>G (p.Pro411Arg) c.917C>G (p.Pro306Arg) n.1680C>G n.1515C>G | ClinVar |
| 3 | g.193643601C>T | CA355789618 | OPA1 | c.1451C>T (p.Pro484Leu) c.1286C>T (p.Pro429Leu) c.1397C>T (p.Pro466Leu) c.1340C>T (p.Pro447Leu) c.1225C>T c.968C>T (p.Pro323Leu) c.*1367C>T (n.*1367C>T) c.946C>T c.914C>T (p.Pro305Leu) c.1255C>T c.1301C>T (p.Pro434Leu) c.*764C>T (n.*764C>T) c.274C>T c.1178C>T (p.Pro393Leu) c.1289C>T (p.Pro430Leu) c.1343C>T (p.Pro448Leu) n.482C>T c.1232C>T (p.Pro411Leu) c.917C>T (p.Pro306Leu) n.1680C>T n.1515C>T | |
| 3 | g.193643602T>A | CA437436134 | OPA1 | c.1452T>A (p.Pro484=) c.1287T>A (p.Pro429=) c.1398T>A (p.Pro466=) c.1341T>A (p.Pro447=) c.1226T>A c.969T>A (p.Pro323=) c.*1368T>A (n.*1368T>A) c.947T>A c.915T>A (p.Pro305=) c.1256T>A c.1302T>A (p.Pro434=) c.*765T>A (n.*765T>A) c.275T>A c.1179T>A (p.Pro393=) c.1290T>A (p.Pro430=) c.1344T>A (p.Pro448=) n.483T>A c.1233T>A (p.Pro411=) c.918T>A (p.Pro306=) n.1681T>A n.1516T>A | |
| 3 | g.193643602T>C | CA437436136 | OPA1 | c.1452T>C (p.Pro484=) c.1287T>C (p.Pro429=) c.1398T>C (p.Pro466=) c.1341T>C (p.Pro447=) c.1226T>C c.969T>C (p.Pro323=) c.*1368T>C (n.*1368T>C) c.947T>C c.915T>C (p.Pro305=) c.1256T>C c.1302T>C (p.Pro434=) c.*765T>C (n.*765T>C) c.275T>C c.1179T>C (p.Pro393=) c.1290T>C (p.Pro430=) c.1344T>C (p.Pro448=) n.483T>C c.1233T>C (p.Pro411=) c.918T>C (p.Pro306=) n.1681T>C n.1516T>C | |
| 3 | g.193643602T>G | CA437436138 | OPA1 | c.1452T>G (p.Pro484=) c.1287T>G (p.Pro429=) c.1398T>G (p.Pro466=) c.1341T>G (p.Pro447=) c.1226T>G c.969T>G (p.Pro323=) c.*1368T>G (n.*1368T>G) c.947T>G c.915T>G (p.Pro305=) c.1256T>G c.1302T>G (p.Pro434=) c.*765T>G (n.*765T>G) c.275T>G c.1179T>G (p.Pro393=) c.1290T>G (p.Pro430=) c.1344T>G (p.Pro448=) n.483T>G c.1233T>G (p.Pro411=) c.918T>G (p.Pro306=) n.1681T>G n.1516T>G | |
| 3 | g.193643603A>C | CA355789620 | OPA1 | c.1453A>C (p.Asn485His) c.1288A>C (p.Asn430His) c.1399A>C (p.Asn467His) c.1342A>C (p.Asn448His) c.1227A>C c.970A>C (p.Asn324His) c.*1369A>C (n.*1369A>C) c.948A>C c.916A>C (p.Asn306His) c.1257A>C c.1303A>C (p.Asn435His) c.*766A>C (n.*766A>C) c.276A>C c.1180A>C (p.Asn394His) c.1291A>C (p.Asn431His) c.1345A>C (p.Asn449His) n.484A>C c.1234A>C (p.Asn412His) c.919A>C (p.Asn307His) n.1682A>C n.1517A>C | |
| 3 | g.193643603A>G | CA355789621 | OPA1 | c.1453A>G (p.Asn485Asp) c.1288A>G (p.Asn430Asp) c.1399A>G (p.Asn467Asp) c.1342A>G (p.Asn448Asp) c.1227A>G c.970A>G (p.Asn324Asp) c.*1369A>G (n.*1369A>G) c.948A>G c.916A>G (p.Asn306Asp) c.1257A>G c.1303A>G (p.Asn435Asp) c.*766A>G (n.*766A>G) c.276A>G c.1180A>G (p.Asn394Asp) c.1291A>G (p.Asn431Asp) c.1345A>G (p.Asn449Asp) n.484A>G c.1234A>G (p.Asn412Asp) c.919A>G (p.Asn307Asp) n.1682A>G n.1517A>G | |
| 3 | g.193643603A>T | CA355789622 | OPA1 | c.1453A>T (p.Asn485Tyr) c.1288A>T (p.Asn430Tyr) c.1399A>T (p.Asn467Tyr) c.1342A>T (p.Asn448Tyr) c.1227A>T c.970A>T (p.Asn324Tyr) c.*1369A>T (n.*1369A>T) c.948A>T c.916A>T (p.Asn306Tyr) c.1257A>T c.1303A>T (p.Asn435Tyr) c.*766A>T (n.*766A>T) c.276A>T c.1180A>T (p.Asn394Tyr) c.1291A>T (p.Asn431Tyr) c.1345A>T (p.Asn449Tyr) n.484A>T c.1234A>T (p.Asn412Tyr) c.919A>T (p.Asn307Tyr) n.1682A>T n.1517A>T | |
| 3 | g.193643604A= | CA1430245172 | OPA1 | c.1454A= (p.Asn485=) c.1289A= (p.Asn430=) c.1400A= (p.Asn467=) c.1343A= (p.Asn448=) c.1228A= c.971A= (p.Asn324=) c.*1370A= (n.*1370A=) c.949A= c.917A= (p.Asn306=) c.1258A= c.1304A= (p.Asn435=) c.*767A= (n.*767A=) c.277A= c.1181A= (p.Asn394=) c.1292A= (p.Asn431=) c.1346A= (p.Asn449=) n.485A= c.1235A= (p.Asn412=) c.920A= (p.Asn307=) n.1683A= n.1518A= | |
| 3 | g.193643604A>C | CA355789623 | OPA1 | c.1454A>C (p.Asn485Thr) c.1289A>C (p.Asn430Thr) c.1400A>C (p.Asn467Thr) c.1343A>C (p.Asn448Thr) c.1228A>C c.971A>C (p.Asn324Thr) c.*1370A>C (n.*1370A>C) c.949A>C c.917A>C (p.Asn306Thr) c.1258A>C c.1304A>C (p.Asn435Thr) c.*767A>C (n.*767A>C) c.277A>C c.1181A>C (p.Asn394Thr) c.1292A>C (p.Asn431Thr) c.1346A>C (p.Asn449Thr) n.485A>C c.1235A>C (p.Asn412Thr) c.920A>C (p.Asn307Thr) n.1683A>C n.1518A>C | |
| 3 | g.193643604A>G | CA355789624 | OPA1 | c.1454A>G (p.Asn485Ser) c.1289A>G (p.Asn430Ser) c.1400A>G (p.Asn467Ser) c.1343A>G (p.Asn448Ser) c.1228A>G c.971A>G (p.Asn324Ser) c.*1370A>G (n.*1370A>G) c.949A>G c.917A>G (p.Asn306Ser) c.1258A>G c.1304A>G (p.Asn435Ser) c.*767A>G (n.*767A>G) c.277A>G c.1181A>G (p.Asn394Ser) c.1292A>G (p.Asn431Ser) c.1346A>G (p.Asn449Ser) n.485A>G c.1235A>G (p.Asn412Ser) c.920A>G (p.Asn307Ser) n.1683A>G n.1518A>G | gnomAD v4 |
| 3 | g.193643604A>T | CA355789625 | OPA1 | c.1454A>T (p.Asn485Ile) c.1289A>T (p.Asn430Ile) c.1400A>T (p.Asn467Ile) c.1343A>T (p.Asn448Ile) c.1228A>T c.971A>T (p.Asn324Ile) c.*1370A>T (n.*1370A>T) c.949A>T c.917A>T (p.Asn306Ile) c.1258A>T c.1304A>T (p.Asn435Ile) c.*767A>T (n.*767A>T) c.277A>T c.1181A>T (p.Asn394Ile) c.1292A>T (p.Asn431Ile) c.1346A>T (p.Asn449Ile) n.485A>T c.1235A>T (p.Asn412Ile) c.920A>T (p.Asn307Ile) n.1683A>T n.1518A>T | ClinVar dbSNP |
| 3 | g.193643606_193643622del | CA2586973459 | OPA1 | c.1456_1472del (p.Ala486SerfsTer8) c.1291_1307del (p.Ala431SerfsTer8) c.1402_1418del (p.Ala468SerfsTer8) c.1345_1361del (p.Ala449SerfsTer8) c.1230_1246del c.973_989del (p.Ala325SerfsTer8) c.*1372_*1388del (n.*1372_*1388del) c.951_967del c.919_935del (p.Ala307SerfsTer8) c.1260_1276del c.1306_1322del (p.Ala436SerfsTer8) c.*769_*785del (n.*769_*785del) c.1456_1472del (p.Ala486SerfsTer?) c.279_295del c.1183_1199del (p.Ala395SerfsTer8) c.1294_1310del (p.Ala432SerfsTer8) c.1348_1364del (p.Ala450SerfsTer8) n.487_503del c.1237_1253del (p.Ala413SerfsTer8) c.922_938del (p.Ala308SerfsTer8) n.1685_1701del n.1520_1536del | |
| 3 | g.193643605T>A | CA355789626 | OPA1 | c.1455T>A (p.Asn485Lys) c.1290T>A (p.Asn430Lys) c.1401T>A (p.Asn467Lys) c.1344T>A (p.Asn448Lys) c.1229T>A c.972T>A (p.Asn324Lys) c.*1371T>A (n.*1371T>A) c.950T>A c.918T>A (p.Asn306Lys) c.1259T>A c.1305T>A (p.Asn435Lys) c.*768T>A (n.*768T>A) c.278T>A c.1182T>A (p.Asn394Lys) c.1293T>A (p.Asn431Lys) c.1347T>A (p.Asn449Lys) n.486T>A c.1236T>A (p.Asn412Lys) c.921T>A (p.Asn307Lys) n.1684T>A n.1519T>A | |
| 3 | g.193643605T>C | CA437436145 | OPA1 | c.1455T>C (p.Asn485=) c.1290T>C (p.Asn430=) c.1401T>C (p.Asn467=) c.1344T>C (p.Asn448=) c.1229T>C c.972T>C (p.Asn324=) c.*1371T>C (n.*1371T>C) c.950T>C c.918T>C (p.Asn306=) c.1259T>C c.1305T>C (p.Asn435=) c.*768T>C (n.*768T>C) c.278T>C c.1182T>C (p.Asn394=) c.1293T>C (p.Asn431=) c.1347T>C (p.Asn449=) n.486T>C c.1236T>C (p.Asn412=) c.921T>C (p.Asn307=) n.1684T>C n.1519T>C | |
| 3 | g.193643605T>G | CA355789627 | OPA1 | c.1455T>G (p.Asn485Lys) c.1290T>G (p.Asn430Lys) c.1401T>G (p.Asn467Lys) c.1344T>G (p.Asn448Lys) c.1229T>G c.972T>G (p.Asn324Lys) c.*1371T>G (n.*1371T>G) c.950T>G c.918T>G (p.Asn306Lys) c.1259T>G c.1305T>G (p.Asn435Lys) c.*768T>G (n.*768T>G) c.278T>G c.1182T>G (p.Asn394Lys) c.1293T>G (p.Asn431Lys) c.1347T>G (p.Asn449Lys) n.486T>G c.1236T>G (p.Asn412Lys) c.921T>G (p.Asn307Lys) n.1684T>G n.1519T>G | |
| 3 | g.193643606G>A | CA355789628 | OPA1 | c.1456G>A (p.Ala486Thr) c.1291G>A (p.Ala431Thr) c.1402G>A (p.Ala468Thr) c.1345G>A (p.Ala449Thr) c.1230G>A c.973G>A (p.Ala325Thr) c.*1372G>A (n.*1372G>A) c.951G>A c.919G>A (p.Ala307Thr) c.1260G>A c.1306G>A (p.Ala436Thr) c.*769G>A (n.*769G>A) c.279G>A c.1183G>A (p.Ala395Thr) c.1294G>A (p.Ala432Thr) c.1348G>A (p.Ala450Thr) n.487G>A c.1237G>A (p.Ala413Thr) c.922G>A (p.Ala308Thr) n.1685G>A n.1520G>A | |
| 3 | g.193643606G>C | CA355789629 | OPA1 | c.1456G>C (p.Ala486Pro) c.1291G>C (p.Ala431Pro) c.1402G>C (p.Ala468Pro) c.1345G>C (p.Ala449Pro) c.1230G>C c.973G>C (p.Ala325Pro) c.*1372G>C (n.*1372G>C) c.951G>C c.919G>C (p.Ala307Pro) c.1260G>C c.1306G>C (p.Ala436Pro) c.*769G>C (n.*769G>C) c.279G>C c.1183G>C (p.Ala395Pro) c.1294G>C (p.Ala432Pro) c.1348G>C (p.Ala450Pro) n.487G>C c.1237G>C (p.Ala413Pro) c.922G>C (p.Ala308Pro) n.1685G>C n.1520G>C | |
| 3 | g.193643606G>T | CA355789630 | OPA1 | c.1456G>T (p.Ala486Ser) c.1291G>T (p.Ala431Ser) c.1402G>T (p.Ala468Ser) c.1345G>T (p.Ala449Ser) c.1230G>T c.973G>T (p.Ala325Ser) c.*1372G>T (n.*1372G>T) c.951G>T c.919G>T (p.Ala307Ser) c.1260G>T c.1306G>T (p.Ala436Ser) c.*769G>T (n.*769G>T) c.279G>T c.1183G>T (p.Ala395Ser) c.1294G>T (p.Ala432Ser) c.1348G>T (p.Ala450Ser) n.487G>T c.1237G>T (p.Ala413Ser) c.922G>T (p.Ala308Ser) n.1685G>T n.1520G>T | |
| 3 | g.193643607C>A | CA355789631 | OPA1 | c.1457C>A (p.Ala486Asp) c.1292C>A (p.Ala431Asp) c.1403C>A (p.Ala468Asp) c.1346C>A (p.Ala449Asp) c.1231C>A c.974C>A (p.Ala325Asp) c.*1373C>A (n.*1373C>A) c.952C>A c.920C>A (p.Ala307Asp) c.1261C>A c.1307C>A (p.Ala436Asp) c.*770C>A (n.*770C>A) c.280C>A c.1184C>A (p.Ala395Asp) c.1295C>A (p.Ala432Asp) c.1349C>A (p.Ala450Asp) n.488C>A c.1238C>A (p.Ala413Asp) c.923C>A (p.Ala308Asp) n.1686C>A n.1521C>A | |
| 3 | g.193643607C>G | CA355789633 | OPA1 | c.1457C>G (p.Ala486Gly) c.1292C>G (p.Ala431Gly) c.1403C>G (p.Ala468Gly) c.1346C>G (p.Ala449Gly) c.1231C>G c.974C>G (p.Ala325Gly) c.*1373C>G (n.*1373C>G) c.952C>G c.920C>G (p.Ala307Gly) c.1261C>G c.1307C>G (p.Ala436Gly) c.*770C>G (n.*770C>G) c.280C>G c.1184C>G (p.Ala395Gly) c.1295C>G (p.Ala432Gly) c.1349C>G (p.Ala450Gly) n.488C>G c.1238C>G (p.Ala413Gly) c.923C>G (p.Ala308Gly) n.1686C>G n.1521C>G | |
| 3 | g.193643607C>T | CA355789632 | OPA1 | c.1457C>T (p.Ala486Val) c.1292C>T (p.Ala431Val) c.1403C>T (p.Ala468Val) c.1346C>T (p.Ala449Val) c.1231C>T c.974C>T (p.Ala325Val) c.*1373C>T (n.*1373C>T) c.952C>T c.920C>T (p.Ala307Val) c.1261C>T c.1307C>T (p.Ala436Val) c.*770C>T (n.*770C>T) c.280C>T c.1184C>T (p.Ala395Val) c.1295C>T (p.Ala432Val) c.1349C>T (p.Ala450Val) n.488C>T c.1238C>T (p.Ala413Val) c.923C>T (p.Ala308Val) n.1686C>T n.1521C>T | |
| 3 | g.193643607_193643610delinsCCAT | CA1430245179 | OPA1 | c.1457_1460delinsCCAT (p.Ala486=) c.1292_1295delinsCCAT (p.Ala431=) c.1403_1406delinsCCAT (p.Ala468=) c.1346_1349delinsCCAT (p.Ala449=) c.1231_1234delinsCCAT c.974_977delinsCCAT (p.Ala325=) c.*1373_*1376delinsCCAT (n.*1373_*1376delinsCCAT) c.952_955delinsCCAT c.920_923delinsCCAT (p.Ala307=) c.1261_1264delinsCCAT c.1307_1310delinsCCAT (p.Ala436=) c.*770_*773delinsCCAT (n.*770_*773delinsCCAT) c.280_283delinsCCAT c.1184_1187delinsCCAT (p.Ala395=) c.1295_1298delinsCCAT (p.Ala432=) c.1349_1352delinsCCAT (p.Ala450=) n.488_491delinsCCAT c.1238_1241delinsCCAT (p.Ala413=) c.923_926delinsCCAT (p.Ala308=) n.1686_1689delinsCCAT n.1521_1524delinsCCAT | |
| 3 | g.193643608C>A | CA437436150 | OPA1 | c.1458C>A (p.Ala486=) c.1293C>A (p.Ala431=) c.1404C>A (p.Ala468=) c.1347C>A (p.Ala449=) c.1232C>A c.975C>A (p.Ala325=) c.*1374C>A (n.*1374C>A) c.953C>A c.921C>A (p.Ala307=) c.1262C>A c.1308C>A (p.Ala436=) c.*771C>A (n.*771C>A) c.281C>A c.1185C>A (p.Ala395=) c.1296C>A (p.Ala432=) c.1350C>A (p.Ala450=) n.489C>A c.1239C>A (p.Ala413=) c.924C>A (p.Ala308=) n.1687C>A n.1522C>A | |
| 3 | g.193643608C= | CA1430245187 | OPA1 | c.1458C= (p.Ala486=) c.1293C= (p.Ala431=) c.1404C= (p.Ala468=) c.1347C= (p.Ala449=) c.1232C= c.975C= (p.Ala325=) c.*1374C= (n.*1374C=) c.953C= c.921C= (p.Ala307=) c.1262C= c.1308C= (p.Ala436=) c.*771C= (n.*771C=) c.281C= c.1185C= (p.Ala395=) c.1296C= (p.Ala432=) c.1350C= (p.Ala450=) n.489C= c.1239C= (p.Ala413=) c.924C= (p.Ala308=) n.1687C= n.1522C= | |
| 3 | g.193643608C>G | CA437436152 | OPA1 | c.1458C>G (p.Ala486=) c.1293C>G (p.Ala431=) c.1404C>G (p.Ala468=) c.1347C>G (p.Ala449=) c.1232C>G c.975C>G (p.Ala325=) c.*1374C>G (n.*1374C>G) c.953C>G c.921C>G (p.Ala307=) c.1262C>G c.1308C>G (p.Ala436=) c.*771C>G (n.*771C>G) c.281C>G c.1185C>G (p.Ala395=) c.1296C>G (p.Ala432=) c.1350C>G (p.Ala450=) n.489C>G c.1239C>G (p.Ala413=) c.924C>G (p.Ala308=) n.1687C>G n.1522C>G | |
| 3 | g.193643608C>T | CA437436153 | OPA1 | c.1458C>T (p.Ala486=) c.1293C>T (p.Ala431=) c.1404C>T (p.Ala468=) c.1347C>T (p.Ala449=) c.1232C>T c.975C>T (p.Ala325=) c.*1374C>T (n.*1374C>T) c.953C>T c.921C>T (p.Ala307=) c.1262C>T c.1308C>T (p.Ala436=) c.*771C>T (n.*771C>T) c.281C>T c.1185C>T (p.Ala395=) c.1296C>T (p.Ala432=) c.1350C>T (p.Ala450=) n.489C>T c.1239C>T (p.Ala413=) c.924C>T (p.Ala308=) n.1687C>T n.1522C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.193643611_193643613del | CA10575491 | OPA1 | c.1461_1463del (p.Ile488del) c.1296_1298del (p.Ile433del) c.1407_1409del (p.Ile470del) c.1350_1352del (p.Ile451del) c.1235_1237del c.978_980del (p.Ile327del) c.*1377_*1379del (n.*1377_*1379del) c.956_958del c.924_926del (p.Ile309del) c.1265_1267del c.1311_1313del (p.Ile438del) c.*774_*776del (n.*774_*776del) c.284_286del c.1188_1190del (p.Ile397del) c.1299_1301del (p.Ile434del) c.1353_1355del (p.Ile452del) n.492_494del c.1242_1244del (p.Ile415del) c.927_929del (p.Ile310del) n.1690_1692del n.1525_1527del | ClinVar dbSNP |
| 3 | g.193643609A= | CA1430245195 | OPA1 | c.1459A= (p.Ile487=) c.1294A= (p.Ile432=) c.1405A= (p.Ile469=) c.1348A= (p.Ile450=) c.1233A= c.976A= (p.Ile326=) c.*1375A= (n.*1375A=) c.954A= c.922A= (p.Ile308=) c.1263A= c.1309A= (p.Ile437=) c.*772A= (n.*772A=) c.282A= c.1186A= (p.Ile396=) c.1297A= (p.Ile433=) c.1351A= (p.Ile451=) n.490A= c.1240A= (p.Ile414=) c.925A= (p.Ile309=) n.1688A= n.1523A= | |
| 3 | g.193643609A>C | CA355789634 | OPA1 | c.1459A>C (p.Ile487Leu) c.1294A>C (p.Ile432Leu) c.1405A>C (p.Ile469Leu) c.1348A>C (p.Ile450Leu) c.1233A>C c.976A>C (p.Ile326Leu) c.*1375A>C (n.*1375A>C) c.954A>C c.922A>C (p.Ile308Leu) c.1263A>C c.1309A>C (p.Ile437Leu) c.*772A>C (n.*772A>C) c.282A>C c.1186A>C (p.Ile396Leu) c.1297A>C (p.Ile433Leu) c.1351A>C (p.Ile451Leu) n.490A>C c.1240A>C (p.Ile414Leu) c.925A>C (p.Ile309Leu) n.1688A>C n.1523A>C | |
| 3 | g.193643609A>G | CA129226 | OPA1 | c.1459A>G (p.Ile487Val) c.1294A>G (p.Ile432Val) c.1405A>G (p.Ile469Val) c.1348A>G (p.Ile450Val) c.1233A>G c.976A>G (p.Ile326Val) c.*1375A>G (n.*1375A>G) c.954A>G c.922A>G (p.Ile308Val) c.1263A>G c.1309A>G (p.Ile437Val) c.*772A>G (n.*772A>G) c.282A>G c.1186A>G (p.Ile396Val) c.1297A>G (p.Ile433Val) c.1351A>G (p.Ile451Val) n.490A>G c.1240A>G (p.Ile414Val) c.925A>G (p.Ile309Val) n.1688A>G n.1523A>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.193643609A>T | CA355789635 | OPA1 | c.1459A>T (p.Ile487Phe) c.1294A>T (p.Ile432Phe) c.1405A>T (p.Ile469Phe) c.1348A>T (p.Ile450Phe) c.1233A>T c.976A>T (p.Ile326Phe) c.*1375A>T (n.*1375A>T) c.954A>T c.922A>T (p.Ile308Phe) c.1263A>T c.1309A>T (p.Ile437Phe) c.*772A>T (n.*772A>T) c.282A>T c.1186A>T (p.Ile396Phe) c.1297A>T (p.Ile433Phe) c.1351A>T (p.Ile451Phe) n.490A>T c.1240A>T (p.Ile414Phe) c.925A>T (p.Ile309Phe) n.1688A>T n.1523A>T | |
| 3 | g.193643610T>A | CA355789636 | OPA1 | c.1460T>A (p.Ile487Asn) c.1295T>A (p.Ile432Asn) c.1406T>A (p.Ile469Asn) c.1349T>A (p.Ile450Asn) c.1234T>A c.977T>A (p.Ile326Asn) c.*1376T>A (n.*1376T>A) c.955T>A c.923T>A (p.Ile308Asn) c.1264T>A c.1310T>A (p.Ile437Asn) c.*773T>A (n.*773T>A) c.283T>A c.1187T>A (p.Ile396Asn) c.1298T>A (p.Ile433Asn) c.1352T>A (p.Ile451Asn) n.491T>A c.1241T>A (p.Ile414Asn) c.926T>A (p.Ile309Asn) n.1689T>A n.1524T>A | |
| 3 | g.193643610T>C | CA355789637 | OPA1 | c.1460T>C (p.Ile487Thr) c.1295T>C (p.Ile432Thr) c.1406T>C (p.Ile469Thr) c.1349T>C (p.Ile450Thr) c.1234T>C c.977T>C (p.Ile326Thr) c.*1376T>C (n.*1376T>C) c.955T>C c.923T>C (p.Ile308Thr) c.1264T>C c.1310T>C (p.Ile437Thr) c.*773T>C (n.*773T>C) c.283T>C c.1187T>C (p.Ile396Thr) c.1298T>C (p.Ile433Thr) c.1352T>C (p.Ile451Thr) n.491T>C c.1241T>C (p.Ile414Thr) c.926T>C (p.Ile309Thr) n.1689T>C n.1524T>C | |
| 3 | g.193643610T>G | CA355789638 | OPA1 | c.1460T>G (p.Ile487Ser) c.1295T>G (p.Ile432Ser) c.1406T>G (p.Ile469Ser) c.1349T>G (p.Ile450Ser) c.1234T>G c.977T>G (p.Ile326Ser) c.*1376T>G (n.*1376T>G) c.955T>G c.923T>G (p.Ile308Ser) c.1264T>G c.1310T>G (p.Ile437Ser) c.*773T>G (n.*773T>G) c.283T>G c.1187T>G (p.Ile396Ser) c.1298T>G (p.Ile433Ser) c.1352T>G (p.Ile451Ser) n.491T>G c.1241T>G (p.Ile414Ser) c.926T>G (p.Ile309Ser) n.1689T>G n.1524T>G | |
| 3 | g.193643611C>A | CA437436159 | OPA1 | c.1461C>A (p.Ile487=) c.1296C>A (p.Ile432=) c.1407C>A (p.Ile469=) c.1350C>A (p.Ile450=) c.1235C>A c.978C>A (p.Ile326=) c.*1377C>A (n.*1377C>A) c.956C>A c.924C>A (p.Ile308=) c.1265C>A c.1311C>A (p.Ile437=) c.*774C>A (n.*774C>A) c.284C>A c.1188C>A (p.Ile396=) c.1299C>A (p.Ile433=) c.1353C>A (p.Ile451=) n.492C>A c.1242C>A (p.Ile414=) c.927C>A (p.Ile309=) n.1690C>A n.1525C>A | |
| 3 | g.193643611C= | CA1430245205 | OPA1 | c.1461C= (p.Ile487=) c.1296C= (p.Ile432=) c.1407C= (p.Ile469=) c.1350C= (p.Ile450=) c.1235C= c.978C= (p.Ile326=) c.*1377C= (n.*1377C=) c.956C= c.924C= (p.Ile308=) c.1265C= c.1311C= (p.Ile437=) c.*774C= (n.*774C=) c.284C= c.1188C= (p.Ile396=) c.1299C= (p.Ile433=) c.1353C= (p.Ile451=) n.492C= c.1242C= (p.Ile414=) c.927C= (p.Ile309=) n.1690C= n.1525C= | |
| 3 | g.193643611C>G | CA355789639 | OPA1 | c.1461C>G (p.Ile487Met) c.1296C>G (p.Ile432Met) c.1407C>G (p.Ile469Met) c.1350C>G (p.Ile450Met) c.1235C>G c.978C>G (p.Ile326Met) c.*1377C>G (n.*1377C>G) c.956C>G c.924C>G (p.Ile308Met) c.1265C>G c.1311C>G (p.Ile437Met) c.*774C>G (n.*774C>G) c.284C>G c.1188C>G (p.Ile396Met) c.1299C>G (p.Ile433Met) c.1353C>G (p.Ile451Met) n.492C>G c.1242C>G (p.Ile414Met) c.927C>G (p.Ile309Met) n.1690C>G n.1525C>G | dbSNP |
| 3 | g.193643611C>T | CA437436162 | OPA1 | c.1461C>T (p.Ile487=) c.1296C>T (p.Ile432=) c.1407C>T (p.Ile469=) c.1350C>T (p.Ile450=) c.1235C>T c.978C>T (p.Ile326=) c.*1377C>T (n.*1377C>T) c.956C>T c.924C>T (p.Ile308=) c.1265C>T c.1311C>T (p.Ile437=) c.*774C>T (n.*774C>T) c.284C>T c.1188C>T (p.Ile396=) c.1299C>T (p.Ile433=) c.1353C>T (p.Ile451=) n.492C>T c.1242C>T (p.Ile414=) c.927C>T (p.Ile309=) n.1690C>T n.1525C>T | |
| 3 | g.193643611_193643615dup | CA2580070573 | OPA1 | c.1461_1465dup (p.Leu489ProfsTer?) c.1296_1300dup (p.Leu434ProfsTer?) c.1407_1411dup (p.Leu471ProfsTer?) c.1350_1354dup (p.Leu452ProfsTer?) c.1235_1239dup c.978_982dup (p.Leu328ProfsTer?) c.*1377_*1381dup (n.*1377_*1381dup) c.956_960dup c.924_928dup (p.Leu310ProfsTer?) c.1265_1269dup c.1311_1315dup (p.Leu439ProfsTer?) c.*774_*778dup (n.*774_*778dup) c.1461_1465dup (p.Leu489ProfsTer20) c.284_288dup c.1188_1192dup (p.Leu398ProfsTer?) c.1299_1303dup (p.Leu435ProfsTer?) c.1353_1357dup (p.Leu453ProfsTer?) n.492_496dup c.1242_1246dup (p.Leu416ProfsTer?) c.927_931dup (p.Leu311ProfsTer?) n.1690_1694dup n.1525_1529dup | ClinVar |
| 3 | g.193643612A= | CA1430245214 | OPA1 | c.1462A= (p.Ile488=) c.1297A= (p.Ile433=) c.1408A= (p.Ile470=) c.1351A= (p.Ile451=) c.1236A= c.979A= (p.Ile327=) c.*1378A= (n.*1378A=) c.957A= c.925A= (p.Ile309=) c.1266A= c.1312A= (p.Ile438=) c.*775A= (n.*775A=) c.285A= c.1189A= (p.Ile397=) c.1300A= (p.Ile434=) c.1354A= (p.Ile452=) n.493A= c.1243A= (p.Ile415=) c.928A= (p.Ile310=) n.1691A= n.1526A= | |
| 3 | g.193643612A>C | CA355789640 | OPA1 | c.1462A>C (p.Ile488Leu) c.1297A>C (p.Ile433Leu) c.1408A>C (p.Ile470Leu) c.1351A>C (p.Ile451Leu) c.1236A>C c.979A>C (p.Ile327Leu) c.*1378A>C (n.*1378A>C) c.957A>C c.925A>C (p.Ile309Leu) c.1266A>C c.1312A>C (p.Ile438Leu) c.*775A>C (n.*775A>C) c.285A>C c.1189A>C (p.Ile397Leu) c.1300A>C (p.Ile434Leu) c.1354A>C (p.Ile452Leu) n.493A>C c.1243A>C (p.Ile415Leu) c.928A>C (p.Ile310Leu) n.1691A>C n.1526A>C | |
| 3 | g.193643612A>G | CA355789641 | OPA1 | c.1462A>G (p.Ile488Val) c.1297A>G (p.Ile433Val) c.1408A>G (p.Ile470Val) c.1351A>G (p.Ile451Val) c.1236A>G c.979A>G (p.Ile327Val) c.*1378A>G (n.*1378A>G) c.957A>G c.925A>G (p.Ile309Val) c.1266A>G c.1312A>G (p.Ile438Val) c.*775A>G (n.*775A>G) c.285A>G c.1189A>G (p.Ile397Val) c.1300A>G (p.Ile434Val) c.1354A>G (p.Ile452Val) n.493A>G c.1243A>G (p.Ile415Val) c.928A>G (p.Ile310Val) n.1691A>G n.1526A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193643612A>T | CA355789642 | OPA1 | c.1462A>T (p.Ile488Leu) c.1297A>T (p.Ile433Leu) c.1408A>T (p.Ile470Leu) c.1351A>T (p.Ile451Leu) c.1236A>T c.979A>T (p.Ile327Leu) c.*1378A>T (n.*1378A>T) c.957A>T c.925A>T (p.Ile309Leu) c.1266A>T c.1312A>T (p.Ile438Leu) c.*775A>T (n.*775A>T) c.285A>T c.1189A>T (p.Ile397Leu) c.1300A>T (p.Ile434Leu) c.1354A>T (p.Ile452Leu) n.493A>T c.1243A>T (p.Ile415Leu) c.928A>T (p.Ile310Leu) n.1691A>T n.1526A>T | |
| 3 | g.193643613T>A | CA355789644 | OPA1 | c.1463T>A (p.Ile488Lys) c.1298T>A (p.Ile433Lys) c.1409T>A (p.Ile470Lys) c.1352T>A (p.Ile451Lys) c.1237T>A c.980T>A (p.Ile327Lys) c.*1379T>A (n.*1379T>A) c.958T>A c.926T>A (p.Ile309Lys) c.1267T>A c.1313T>A (p.Ile438Lys) c.*776T>A (n.*776T>A) c.286T>A c.1190T>A (p.Ile397Lys) c.1301T>A (p.Ile434Lys) c.1355T>A (p.Ile452Lys) n.494T>A c.1244T>A (p.Ile415Lys) c.929T>A (p.Ile310Lys) n.1692T>A n.1527T>A | |
| 3 | g.193643613T>C | CA355789645 | OPA1 | c.1463T>C (p.Ile488Thr) c.1298T>C (p.Ile433Thr) c.1409T>C (p.Ile470Thr) c.1352T>C (p.Ile451Thr) c.1237T>C c.980T>C (p.Ile327Thr) c.*1379T>C (n.*1379T>C) c.958T>C c.926T>C (p.Ile309Thr) c.1267T>C c.1313T>C (p.Ile438Thr) c.*776T>C (n.*776T>C) c.286T>C c.1190T>C (p.Ile397Thr) c.1301T>C (p.Ile434Thr) c.1355T>C (p.Ile452Thr) n.494T>C c.1244T>C (p.Ile415Thr) c.929T>C (p.Ile310Thr) n.1692T>C n.1527T>C | |
| 3 | g.193643613T>G | CA355789643 | OPA1 | c.1463T>G (p.Ile488Arg) c.1298T>G (p.Ile433Arg) c.1409T>G (p.Ile470Arg) c.1352T>G (p.Ile451Arg) c.1237T>G c.980T>G (p.Ile327Arg) c.*1379T>G (n.*1379T>G) c.958T>G c.926T>G (p.Ile309Arg) c.1267T>G c.1313T>G (p.Ile438Arg) c.*776T>G (n.*776T>G) c.286T>G c.1190T>G (p.Ile397Arg) c.1301T>G (p.Ile434Arg) c.1355T>G (p.Ile452Arg) n.494T>G c.1244T>G (p.Ile415Arg) c.929T>G (p.Ile310Arg) n.1692T>G n.1527T>G | |
| 3 | g.193643614A= | CA1430245222 | OPA1 | c.1464A= (p.Ile488=) c.1299A= (p.Ile433=) c.1410A= (p.Ile470=) c.1353A= (p.Ile451=) c.1238A= c.981A= (p.Ile327=) c.*1380A= (n.*1380A=) c.959A= c.927A= (p.Ile309=) c.1268A= c.1314A= (p.Ile438=) c.*777A= (n.*777A=) c.287A= c.1191A= (p.Ile397=) c.1302A= (p.Ile434=) c.1356A= (p.Ile452=) n.495A= c.1245A= (p.Ile415=) c.930A= (p.Ile310=) n.1693A= n.1528A= | |
| 3 | g.193643614A>C | CA437436172 | OPA1 | c.1464A>C (p.Ile488=) c.1299A>C (p.Ile433=) c.1410A>C (p.Ile470=) c.1353A>C (p.Ile451=) c.1238A>C c.981A>C (p.Ile327=) c.*1380A>C (n.*1380A>C) c.959A>C c.927A>C (p.Ile309=) c.1268A>C c.1314A>C (p.Ile438=) c.*777A>C (n.*777A>C) c.287A>C c.1191A>C (p.Ile397=) c.1302A>C (p.Ile434=) c.1356A>C (p.Ile452=) n.495A>C c.1245A>C (p.Ile415=) c.930A>C (p.Ile310=) n.1693A>C n.1528A>C | |
| 3 | g.193643614A>G | CA355789646 | OPA1 | c.1464A>G (p.Ile488Met) c.1299A>G (p.Ile433Met) c.1410A>G (p.Ile470Met) c.1353A>G (p.Ile451Met) c.1238A>G c.981A>G (p.Ile327Met) c.*1380A>G (n.*1380A>G) c.959A>G c.927A>G (p.Ile309Met) c.1268A>G c.1314A>G (p.Ile438Met) c.*777A>G (n.*777A>G) c.287A>G c.1191A>G (p.Ile397Met) c.1302A>G (p.Ile434Met) c.1356A>G (p.Ile452Met) n.495A>G c.1245A>G (p.Ile415Met) c.930A>G (p.Ile310Met) n.1693A>G n.1528A>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.193643614A>T | CA437436170 | OPA1 | c.1464A>T (p.Ile488=) c.1299A>T (p.Ile433=) c.1410A>T (p.Ile470=) c.1353A>T (p.Ile451=) c.1238A>T c.981A>T (p.Ile327=) c.*1380A>T (n.*1380A>T) c.959A>T c.927A>T (p.Ile309=) c.1268A>T c.1314A>T (p.Ile438=) c.*777A>T (n.*777A>T) c.287A>T c.1191A>T (p.Ile397=) c.1302A>T (p.Ile434=) c.1356A>T (p.Ile452=) n.495A>T c.1245A>T (p.Ile415=) c.930A>T (p.Ile310=) n.1693A>T n.1528A>T | |
| 3 | g.193643615C>A | CA355789647 | OPA1 | c.1465C>A (p.Leu489Met) c.1300C>A (p.Leu434Met) c.1411C>A (p.Leu471Met) c.1354C>A (p.Leu452Met) c.1239C>A c.982C>A (p.Leu328Met) c.*1381C>A (n.*1381C>A) c.960C>A c.928C>A (p.Leu310Met) c.1269C>A c.1315C>A (p.Leu439Met) c.*778C>A (n.*778C>A) c.288C>A c.1192C>A (p.Leu398Met) c.1303C>A (p.Leu435Met) c.1357C>A (p.Leu453Met) n.496C>A c.1246C>A (p.Leu416Met) c.931C>A (p.Leu311Met) n.1694C>A n.1529C>A | |
| 3 | g.193643615C= | CA1430245231 | OPA1 | c.1465C= (p.Leu489=) c.1300C= (p.Leu434=) c.1411C= (p.Leu471=) c.1354C= (p.Leu452=) c.1239C= c.982C= (p.Leu328=) c.*1381C= (n.*1381C=) c.960C= c.928C= (p.Leu310=) c.1269C= c.1315C= (p.Leu439=) c.*778C= (n.*778C=) c.288C= c.1192C= (p.Leu398=) c.1303C= (p.Leu435=) c.1357C= (p.Leu453=) n.496C= c.1246C= (p.Leu416=) c.931C= (p.Leu311=) n.1694C= n.1529C= | |
| 3 | g.193643615C>G | CA355789648 | OPA1 | c.1465C>G (p.Leu489Val) c.1300C>G (p.Leu434Val) c.1411C>G (p.Leu471Val) c.1354C>G (p.Leu452Val) c.1239C>G c.982C>G (p.Leu328Val) c.*1381C>G (n.*1381C>G) c.960C>G c.928C>G (p.Leu310Val) c.1269C>G c.1315C>G (p.Leu439Val) c.*778C>G (n.*778C>G) c.288C>G c.1192C>G (p.Leu398Val) c.1303C>G (p.Leu435Val) c.1357C>G (p.Leu453Val) n.496C>G c.1246C>G (p.Leu416Val) c.931C>G (p.Leu311Val) n.1694C>G n.1529C>G | |
| 3 | g.193643615C>T | CA437436177 | OPA1 | c.1465C>T (p.Leu489=) c.1300C>T (p.Leu434=) c.1411C>T (p.Leu471=) c.1354C>T (p.Leu452=) c.1239C>T c.982C>T (p.Leu328=) c.*1381C>T (n.*1381C>T) c.960C>T c.928C>T (p.Leu310=) c.1269C>T c.1315C>T (p.Leu439=) c.*778C>T (n.*778C>T) c.288C>T c.1192C>T (p.Leu398=) c.1303C>T (p.Leu435=) c.1357C>T (p.Leu453=) n.496C>T c.1246C>T (p.Leu416=) c.931C>T (p.Leu311=) n.1694C>T n.1529C>T | ClinVar dbSNP |
| 3 | g.193643616T>A | CA355789649 | OPA1 | c.1466T>A (p.Leu489Gln) c.1301T>A (p.Leu434Gln) c.1412T>A (p.Leu471Gln) c.1355T>A (p.Leu452Gln) c.1240T>A c.983T>A (p.Leu328Gln) c.*1382T>A (n.*1382T>A) c.961T>A c.929T>A (p.Leu310Gln) c.1270T>A c.1316T>A (p.Leu439Gln) c.*779T>A (n.*779T>A) c.289T>A c.1193T>A (p.Leu398Gln) c.1304T>A (p.Leu435Gln) c.1358T>A (p.Leu453Gln) n.497T>A c.1247T>A (p.Leu416Gln) c.932T>A (p.Leu311Gln) n.1695T>A n.1530T>A | COSMIC |
| 3 | g.193643616T>C | CA355789650 | OPA1 | c.1466T>C (p.Leu489Pro) c.1301T>C (p.Leu434Pro) c.1412T>C (p.Leu471Pro) c.1355T>C (p.Leu452Pro) c.1240T>C c.983T>C (p.Leu328Pro) c.*1382T>C (n.*1382T>C) c.961T>C c.929T>C (p.Leu310Pro) c.1270T>C c.1316T>C (p.Leu439Pro) c.*779T>C (n.*779T>C) c.289T>C c.1193T>C (p.Leu398Pro) c.1304T>C (p.Leu435Pro) c.1358T>C (p.Leu453Pro) n.497T>C c.1247T>C (p.Leu416Pro) c.932T>C (p.Leu311Pro) n.1695T>C n.1530T>C | ClinVar dbSNP |
| 3 | g.193643616T>G | CA355789651 | OPA1 | c.1466T>G (p.Leu489Arg) c.1301T>G (p.Leu434Arg) c.1412T>G (p.Leu471Arg) c.1355T>G (p.Leu452Arg) c.1240T>G c.983T>G (p.Leu328Arg) c.*1382T>G (n.*1382T>G) c.961T>G c.929T>G (p.Leu310Arg) c.1270T>G c.1316T>G (p.Leu439Arg) c.*779T>G (n.*779T>G) c.289T>G c.1193T>G (p.Leu398Arg) c.1304T>G (p.Leu435Arg) c.1358T>G (p.Leu453Arg) n.497T>G c.1247T>G (p.Leu416Arg) c.932T>G (p.Leu311Arg) n.1695T>G n.1530T>G | |
| 3 | g.193643616T= | CA1430245242 | OPA1 | c.1466T= (p.Leu489=) c.1301T= (p.Leu434=) c.1412T= (p.Leu471=) c.1355T= (p.Leu452=) c.1240T= c.983T= (p.Leu328=) c.*1382T= (n.*1382T=) c.961T= c.929T= (p.Leu310=) c.1270T= c.1316T= (p.Leu439=) c.*779T= (n.*779T=) c.289T= c.1193T= (p.Leu398=) c.1304T= (p.Leu435=) c.1358T= (p.Leu453=) n.497T= c.1247T= (p.Leu416=) c.932T= (p.Leu311=) n.1695T= n.1530T= | |
| 3 | g.193643619_193643620del | CA2580616039 | OPA1 | c.1469_1470del (p.Cys490TyrfsTer9) c.1304_1305del (p.Cys435TyrfsTer9) c.1415_1416del (p.Cys472TyrfsTer9) c.1358_1359del (p.Cys453TyrfsTer9) c.1243_1244del c.986_987del (p.Cys329TyrfsTer9) c.*1385_*1386del (n.*1385_*1386del) c.964_965del c.932_933del (p.Cys311TyrfsTer9) c.1273_1274del c.1319_1320del (p.Cys440TyrfsTer9) c.*782_*783del (n.*782_*783del) c.1469_1470del (p.Cys490TyrfsTer?) c.292_293del c.1196_1197del (p.Cys399TyrfsTer9) c.1307_1308del (p.Cys436TyrfsTer9) c.1361_1362del (p.Cys454TyrfsTer9) n.500_501del c.1250_1251del (p.Cys417TyrfsTer9) c.935_936del (p.Cys312TyrfsTer9) n.1698_1699del n.1533_1534del | ClinVar |