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.193667153_193667159del | CA2669104804 | OPA1 | c.2873-17_2873-11del (n.2873-17_2873-11del) c.2708-17_2708-11del (n.2708-17_2708-11del) c.2819-17_2819-11del (n.2819-17_2819-11del) c.2762-17_2762-11del (n.2762-17_2762-11del) c.2647-17_2647-11del c.*933-17_*933-11del (n.*933-17_*933-11del) c.2390-17_2390-11del (n.2390-17_2390-11del) c.*2789-17_*2789-11del (n.*2789-17_*2789-11del) c.2295-17_2295-11del c.*1192-17_*1192-11del (n.*1192-17_*1192-11del) c.2702-17_2702-11del c.2723-17_2723-11del (n.2723-17_2723-11del) c.*2186-17_*2186-11del (n.*2186-17_*2186-11del) c.*1309-17_*1309-11del (n.*1309-17_*1309-11del) c.1696-17_1696-11del c.2600-17_2600-11del (n.2600-17_2600-11del) c.2711-17_2711-11del (n.2711-17_2711-11del) c.2765-17_2765-11del (n.2765-17_2765-11del) c.284-17_284-11del (n.284-17_284-11del) c.2654-17_2654-11del (n.2654-17_2654-11del) n.582+1764_582+1770del c.2339-17_2339-11del (n.2339-17_2339-11del) c.2336-17_2336-11del (n.2336-17_2336-11del) n.3127-17_3127-11del n.2962-17_2962-11del n.600+1764_600+1770del n.475+3652_475+3658del | gnomAD v4 |
| 3 | g.193667159del | CA2759774 | OPA1 | c.2873-11del (n.2873-11del) c.2708-11del (n.2708-11del) c.2819-11del (n.2819-11del) c.2762-11del (n.2762-11del) c.2647-11del c.*933-11del (n.*933-11del) c.2390-11del (n.2390-11del) c.*2789-11del (n.*2789-11del) c.2295-11del c.*1192-11del (n.*1192-11del) c.2702-11del c.2723-11del (n.2723-11del) c.*2186-11del (n.*2186-11del) c.*1309-11del (n.*1309-11del) c.1696-11del c.2600-11del (n.2600-11del) c.2711-11del (n.2711-11del) c.2765-11del (n.2765-11del) c.284-11del (n.284-11del) c.2654-11del (n.2654-11del) n.582+1763del c.2339-11del (n.2339-11del) c.2336-11del (n.2336-11del) n.3127-11del n.2962-11del n.600+1763del n.475+3651del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193667159T>C | CA2669104812 | OPA1 | c.2873-11T>C (n.2873-11T>C) c.2708-11T>C (n.2708-11T>C) c.2819-11T>C (n.2819-11T>C) c.2762-11T>C (n.2762-11T>C) c.2647-11T>C c.*933-11T>C (n.*933-11T>C) c.2390-11T>C (n.2390-11T>C) c.*2789-11T>C (n.*2789-11T>C) c.2295-11T>C c.*1192-11T>C (n.*1192-11T>C) c.2702-11T>C c.2723-11T>C (n.2723-11T>C) c.*2186-11T>C (n.*2186-11T>C) c.*1309-11T>C (n.*1309-11T>C) c.1696-11T>C c.2600-11T>C (n.2600-11T>C) c.2711-11T>C (n.2711-11T>C) c.2765-11T>C (n.2765-11T>C) c.284-11T>C (n.284-11T>C) c.2654-11T>C (n.2654-11T>C) n.582+1761A>G c.2339-11T>C (n.2339-11T>C) c.2336-11T>C (n.2336-11T>C) n.3127-11T>C n.2962-11T>C n.600+1761A>G n.475+3649A>G | gnomAD v4 |
| 3 | g.193667160C>A | CA2669104813 | OPA1 | c.2873-10C>A (n.2873-10C>A) c.2708-10C>A (n.2708-10C>A) c.2819-10C>A (n.2819-10C>A) c.2762-10C>A (n.2762-10C>A) c.2647-10C>A c.*933-10C>A (n.*933-10C>A) c.2390-10C>A (n.2390-10C>A) c.*2789-10C>A (n.*2789-10C>A) c.2295-10C>A c.*1192-10C>A (n.*1192-10C>A) c.2702-10C>A c.2723-10C>A (n.2723-10C>A) c.*2186-10C>A (n.*2186-10C>A) c.*1309-10C>A (n.*1309-10C>A) c.1696-10C>A c.2600-10C>A (n.2600-10C>A) c.2711-10C>A (n.2711-10C>A) c.2765-10C>A (n.2765-10C>A) c.284-10C>A (n.284-10C>A) c.2654-10C>A (n.2654-10C>A) n.582+1760G>T c.2339-10C>A (n.2339-10C>A) c.2336-10C>A (n.2336-10C>A) n.3127-10C>A n.2962-10C>A n.600+1760G>T n.475+3648G>T | gnomAD v4 |
| 3 | g.193667160C>G | CA2573136894 | OPA1 | c.2873-10C>G (n.2873-10C>G) c.2708-10C>G (n.2708-10C>G) c.2819-10C>G (n.2819-10C>G) c.2762-10C>G (n.2762-10C>G) c.2647-10C>G c.*933-10C>G (n.*933-10C>G) c.2390-10C>G (n.2390-10C>G) c.*2789-10C>G (n.*2789-10C>G) c.2295-10C>G c.*1192-10C>G (n.*1192-10C>G) c.2702-10C>G c.2723-10C>G (n.2723-10C>G) c.*2186-10C>G (n.*2186-10C>G) c.*1309-10C>G (n.*1309-10C>G) c.1696-10C>G c.2600-10C>G (n.2600-10C>G) c.2711-10C>G (n.2711-10C>G) c.2765-10C>G (n.2765-10C>G) c.284-10C>G (n.284-10C>G) c.2654-10C>G (n.2654-10C>G) n.582+1760G>C c.2339-10C>G (n.2339-10C>G) c.2336-10C>G (n.2336-10C>G) n.3127-10C>G n.2962-10C>G n.600+1760G>C n.475+3648G>C | ClinVar dbSNP |
| 3 | g.193667160C>T | CA2759951414 | OPA1 | c.2873-10C>T (n.2873-10C>T) c.2708-10C>T (n.2708-10C>T) c.2819-10C>T (n.2819-10C>T) c.2762-10C>T (n.2762-10C>T) c.2647-10C>T c.*933-10C>T (n.*933-10C>T) c.2390-10C>T (n.2390-10C>T) c.*2789-10C>T (n.*2789-10C>T) c.2295-10C>T c.*1192-10C>T (n.*1192-10C>T) c.2702-10C>T c.2723-10C>T (n.2723-10C>T) c.*2186-10C>T (n.*2186-10C>T) c.*1309-10C>T (n.*1309-10C>T) c.1696-10C>T c.2600-10C>T (n.2600-10C>T) c.2711-10C>T (n.2711-10C>T) c.2765-10C>T (n.2765-10C>T) c.284-10C>T (n.284-10C>T) c.2654-10C>T (n.2654-10C>T) n.582+1760G>A c.2339-10C>T (n.2339-10C>T) c.2336-10C>T (n.2336-10C>T) n.3127-10C>T n.2962-10C>T n.600+1760G>A n.475+3648G>A | |
| 3 | g.193667161T>C | CA2669104814 | OPA1 | c.2873-9T>C (n.2873-9T>C) c.2708-9T>C (n.2708-9T>C) c.2819-9T>C (n.2819-9T>C) c.2762-9T>C (n.2762-9T>C) c.2647-9T>C c.*933-9T>C (n.*933-9T>C) c.2390-9T>C (n.2390-9T>C) c.*2789-9T>C (n.*2789-9T>C) c.2295-9T>C c.*1192-9T>C (n.*1192-9T>C) c.2702-9T>C c.2723-9T>C (n.2723-9T>C) c.*2186-9T>C (n.*2186-9T>C) c.*1309-9T>C (n.*1309-9T>C) c.1696-9T>C c.2600-9T>C (n.2600-9T>C) c.2711-9T>C (n.2711-9T>C) c.2765-9T>C (n.2765-9T>C) c.284-9T>C (n.284-9T>C) c.2654-9T>C (n.2654-9T>C) n.582+1759A>G c.2339-9T>C (n.2339-9T>C) c.2336-9T>C (n.2336-9T>C) n.3127-9T>C n.2962-9T>C n.600+1759A>G n.475+3647A>G | gnomAD v4 |
| 3 | g.193667162T>C | CA2669104815 | OPA1 | c.2873-8T>C (n.2873-8T>C) c.2708-8T>C (n.2708-8T>C) c.2819-8T>C (n.2819-8T>C) c.2762-8T>C (n.2762-8T>C) c.2647-8T>C c.*933-8T>C (n.*933-8T>C) c.2390-8T>C (n.2390-8T>C) c.*2789-8T>C (n.*2789-8T>C) c.2295-8T>C c.*1192-8T>C (n.*1192-8T>C) c.2702-8T>C c.2723-8T>C (n.2723-8T>C) c.*2186-8T>C (n.*2186-8T>C) c.*1309-8T>C (n.*1309-8T>C) c.1696-8T>C c.2600-8T>C (n.2600-8T>C) c.2711-8T>C (n.2711-8T>C) c.2765-8T>C (n.2765-8T>C) c.284-8T>C (n.284-8T>C) c.2654-8T>C (n.2654-8T>C) n.582+1758A>G c.2339-8T>C (n.2339-8T>C) c.2336-8T>C (n.2336-8T>C) n.3127-8T>C n.2962-8T>C n.600+1758A>G n.475+3646A>G | gnomAD v4 |
| 3 | g.193667163T>A | CA2759775 | OPA1 | c.2873-7T>A (n.2873-7T>A) c.2708-7T>A (n.2708-7T>A) c.2819-7T>A (n.2819-7T>A) c.2762-7T>A (n.2762-7T>A) c.2647-7T>A c.*933-7T>A (n.*933-7T>A) c.2390-7T>A (n.2390-7T>A) c.*2789-7T>A (n.*2789-7T>A) c.2295-7T>A c.*1192-7T>A (n.*1192-7T>A) c.2702-7T>A c.2723-7T>A (n.2723-7T>A) c.*2186-7T>A (n.*2186-7T>A) c.*1309-7T>A (n.*1309-7T>A) c.1696-7T>A c.2600-7T>A (n.2600-7T>A) c.2711-7T>A (n.2711-7T>A) c.2765-7T>A (n.2765-7T>A) c.284-7T>A (n.284-7T>A) c.2654-7T>A (n.2654-7T>A) n.582+1757A>T c.2339-7T>A (n.2339-7T>A) c.2336-7T>A (n.2336-7T>A) n.3127-7T>A n.2962-7T>A n.600+1757A>T n.475+3645A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.193667163T>C | CA2669104816 | OPA1 | c.2873-7T>C (n.2873-7T>C) c.2708-7T>C (n.2708-7T>C) c.2819-7T>C (n.2819-7T>C) c.2762-7T>C (n.2762-7T>C) c.2647-7T>C c.*933-7T>C (n.*933-7T>C) c.2390-7T>C (n.2390-7T>C) c.*2789-7T>C (n.*2789-7T>C) c.2295-7T>C c.*1192-7T>C (n.*1192-7T>C) c.2702-7T>C c.2723-7T>C (n.2723-7T>C) c.*2186-7T>C (n.*2186-7T>C) c.*1309-7T>C (n.*1309-7T>C) c.1696-7T>C c.2600-7T>C (n.2600-7T>C) c.2711-7T>C (n.2711-7T>C) c.2765-7T>C (n.2765-7T>C) c.284-7T>C (n.284-7T>C) c.2654-7T>C (n.2654-7T>C) n.582+1757A>G c.2339-7T>C (n.2339-7T>C) c.2336-7T>C (n.2336-7T>C) n.3127-7T>C n.2962-7T>C n.600+1757A>G n.475+3645A>G | gnomAD v4 |
| 3 | g.193667163T= | CA1430274659 | OPA1 | c.2873-7T= (n.2873-7T=) c.2708-7T= (n.2708-7T=) c.2819-7T= (n.2819-7T=) c.2762-7T= (n.2762-7T=) c.2647-7T= c.*933-7T= (n.*933-7T=) c.2390-7T= (n.2390-7T=) c.*2789-7T= (n.*2789-7T=) c.2295-7T= c.*1192-7T= (n.*1192-7T=) c.2702-7T= c.2723-7T= (n.2723-7T=) c.*2186-7T= (n.*2186-7T=) c.*1309-7T= (n.*1309-7T=) c.1696-7T= c.2600-7T= (n.2600-7T=) c.2711-7T= (n.2711-7T=) c.2765-7T= (n.2765-7T=) c.284-7T= (n.284-7T=) c.2654-7T= (n.2654-7T=) n.582+1757A= c.2339-7T= (n.2339-7T=) c.2336-7T= (n.2336-7T=) n.3127-7T= n.2962-7T= n.600+1757A= n.475+3645A= | |
| 3 | g.193667164A= | CA1430274661 | OPA1 | c.2873-6A= (n.2873-6A=) c.2708-6A= (n.2708-6A=) c.2819-6A= (n.2819-6A=) c.2762-6A= (n.2762-6A=) c.2647-6A= c.*933-6A= (n.*933-6A=) c.2390-6A= (n.2390-6A=) c.*2789-6A= (n.*2789-6A=) c.2295-6A= c.*1192-6A= (n.*1192-6A=) c.2702-6A= c.2723-6A= (n.2723-6A=) c.*2186-6A= (n.*2186-6A=) c.*1309-6A= (n.*1309-6A=) c.1696-6A= c.2600-6A= (n.2600-6A=) c.2711-6A= (n.2711-6A=) c.2765-6A= (n.2765-6A=) c.284-6A= (n.284-6A=) c.2654-6A= (n.2654-6A=) n.582+1756T= c.2339-6A= (n.2339-6A=) c.2336-6A= (n.2336-6A=) n.3127-6A= n.2962-6A= n.600+1756T= n.475+3644T= | |
| 3 | g.193667164A>T | CA549254522 | OPA1 | c.2873-6A>T (n.2873-6A>T) c.2708-6A>T (n.2708-6A>T) c.2819-6A>T (n.2819-6A>T) c.2762-6A>T (n.2762-6A>T) c.2647-6A>T c.*933-6A>T (n.*933-6A>T) c.2390-6A>T (n.2390-6A>T) c.*2789-6A>T (n.*2789-6A>T) c.2295-6A>T c.*1192-6A>T (n.*1192-6A>T) c.2702-6A>T c.2723-6A>T (n.2723-6A>T) c.*2186-6A>T (n.*2186-6A>T) c.*1309-6A>T (n.*1309-6A>T) c.1696-6A>T c.2600-6A>T (n.2600-6A>T) c.2711-6A>T (n.2711-6A>T) c.2765-6A>T (n.2765-6A>T) c.284-6A>T (n.284-6A>T) c.2654-6A>T (n.2654-6A>T) n.582+1756T>A c.2339-6A>T (n.2339-6A>T) c.2336-6A>T (n.2336-6A>T) n.3127-6A>T n.2962-6A>T n.600+1756T>A n.475+3644T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193667166del | CA2577995328 | OPA1 | c.2873-4del (n.2873-4del) c.2708-4del (n.2708-4del) c.2819-4del (n.2819-4del) c.2762-4del (n.2762-4del) c.2647-4del c.*933-4del (n.*933-4del) c.2390-4del (n.2390-4del) c.*2789-4del (n.*2789-4del) c.2295-4del c.*1192-4del (n.*1192-4del) c.2702-4del c.2723-4del (n.2723-4del) c.*2186-4del (n.*2186-4del) c.*1309-4del (n.*1309-4del) c.1696-4del c.2600-4del (n.2600-4del) c.2711-4del (n.2711-4del) c.2765-4del (n.2765-4del) c.284-4del (n.284-4del) c.2654-4del (n.2654-4del) n.582+1756del c.2339-4del (n.2339-4del) c.2336-4del (n.2336-4del) n.3127-4del n.2962-4del n.600+1756del n.475+3644del | |
| 3 | g.193667165A>C | CA2669104818 | OPA1 | c.2873-5A>C (n.2873-5A>C) c.2708-5A>C (n.2708-5A>C) c.2819-5A>C (n.2819-5A>C) c.2762-5A>C (n.2762-5A>C) c.2647-5A>C c.*933-5A>C (n.*933-5A>C) c.2390-5A>C (n.2390-5A>C) c.*2789-5A>C (n.*2789-5A>C) c.2295-5A>C c.*1192-5A>C (n.*1192-5A>C) c.2702-5A>C c.2723-5A>C (n.2723-5A>C) c.*2186-5A>C (n.*2186-5A>C) c.*1309-5A>C (n.*1309-5A>C) c.1696-5A>C c.2600-5A>C (n.2600-5A>C) c.2711-5A>C (n.2711-5A>C) c.2765-5A>C (n.2765-5A>C) c.284-5A>C (n.284-5A>C) c.2654-5A>C (n.2654-5A>C) n.582+1755T>G c.2339-5A>C (n.2339-5A>C) c.2336-5A>C (n.2336-5A>C) n.3127-5A>C n.2962-5A>C n.600+1755T>G n.475+3643T>G | gnomAD v4 |
| 3 | g.193667165A>G | CA2669104817 | OPA1 | c.2873-5A>G (n.2873-5A>G) c.2708-5A>G (n.2708-5A>G) c.2819-5A>G (n.2819-5A>G) c.2762-5A>G (n.2762-5A>G) c.2647-5A>G c.*933-5A>G (n.*933-5A>G) c.2390-5A>G (n.2390-5A>G) c.*2789-5A>G (n.*2789-5A>G) c.2295-5A>G c.*1192-5A>G (n.*1192-5A>G) c.2702-5A>G c.2723-5A>G (n.2723-5A>G) c.*2186-5A>G (n.*2186-5A>G) c.*1309-5A>G (n.*1309-5A>G) c.1696-5A>G c.2600-5A>G (n.2600-5A>G) c.2711-5A>G (n.2711-5A>G) c.2765-5A>G (n.2765-5A>G) c.284-5A>G (n.284-5A>G) c.2654-5A>G (n.2654-5A>G) n.582+1755T>C c.2339-5A>G (n.2339-5A>G) c.2336-5A>G (n.2336-5A>G) n.3127-5A>G n.2962-5A>G n.600+1755T>C n.475+3643T>C | gnomAD v4 |
| 3 | g.193667166A= | CA1430274663 | OPA1 | c.2873-4A= (n.2873-4A=) c.2708-4A= (n.2708-4A=) c.2819-4A= (n.2819-4A=) c.2762-4A= (n.2762-4A=) c.2647-4A= c.*933-4A= (n.*933-4A=) c.2390-4A= (n.2390-4A=) c.*2789-4A= (n.*2789-4A=) c.2295-4A= c.*1192-4A= (n.*1192-4A=) c.2702-4A= c.2723-4A= (n.2723-4A=) c.*2186-4A= (n.*2186-4A=) c.*1309-4A= (n.*1309-4A=) c.1696-4A= c.2600-4A= (n.2600-4A=) c.2711-4A= (n.2711-4A=) c.2765-4A= (n.2765-4A=) c.284-4A= (n.284-4A=) c.2654-4A= (n.2654-4A=) n.582+1754T= c.2339-4A= (n.2339-4A=) c.2336-4A= (n.2336-4A=) n.3127-4A= n.2962-4A= n.600+1754T= n.475+3642T= | |
| 3 | g.193667166A>G | CA2759776 | OPA1 | c.2873-4A>G (n.2873-4A>G) c.2708-4A>G (n.2708-4A>G) c.2819-4A>G (n.2819-4A>G) c.2762-4A>G (n.2762-4A>G) c.2647-4A>G c.*933-4A>G (n.*933-4A>G) c.2390-4A>G (n.2390-4A>G) c.*2789-4A>G (n.*2789-4A>G) c.2295-4A>G c.*1192-4A>G (n.*1192-4A>G) c.2702-4A>G c.2723-4A>G (n.2723-4A>G) c.*2186-4A>G (n.*2186-4A>G) c.*1309-4A>G (n.*1309-4A>G) c.1696-4A>G c.2600-4A>G (n.2600-4A>G) c.2711-4A>G (n.2711-4A>G) c.2765-4A>G (n.2765-4A>G) c.284-4A>G (n.284-4A>G) c.2654-4A>G (n.2654-4A>G) n.582+1754T>C c.2339-4A>G (n.2339-4A>G) c.2336-4A>G (n.2336-4A>G) n.3127-4A>G n.2962-4A>G n.600+1754T>C n.475+3642T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.193667167_193667168del | CA2669104819 | OPA1 | c.2873-3_2873-2del (n.2873-3_2873-2del) c.2708-3_2708-2del (n.2708-3_2708-2del) c.2819-3_2819-2del (n.2819-3_2819-2del) c.2762-3_2762-2del (n.2762-3_2762-2del) c.2647-3_2647-2del c.*933-3_*933-2del (n.*933-3_*933-2del) c.2390-3_2390-2del (n.2390-3_2390-2del) c.*2789-3_*2789-2del (n.*2789-3_*2789-2del) c.2295-3_2295-2del c.*1192-3_*1192-2del (n.*1192-3_*1192-2del) c.2702-3_2702-2del c.2723-3_2723-2del (n.2723-3_2723-2del) c.*2186-3_*2186-2del (n.*2186-3_*2186-2del) c.*1309-3_*1309-2del (n.*1309-3_*1309-2del) c.1696-3_1696-2del c.2600-3_2600-2del (n.2600-3_2600-2del) c.2711-3_2711-2del (n.2711-3_2711-2del) c.2765-3_2765-2del (n.2765-3_2765-2del) c.284-3_284-2del (n.284-3_284-2del) c.2654-3_2654-2del (n.2654-3_2654-2del) n.582+1753_582+1754del c.2339-3_2339-2del (n.2339-3_2339-2del) c.2336-3_2336-2del (n.2336-3_2336-2del) n.3127-3_3127-2del n.2962-3_2962-2del n.600+1753_600+1754del n.475+3641_475+3642del | gnomAD v4 |
| 3 | g.193667167C>A | CA2669104820 | OPA1 | c.2873-3C>A (n.2873-3C>A) c.2708-3C>A (n.2708-3C>A) c.2819-3C>A (n.2819-3C>A) c.2762-3C>A (n.2762-3C>A) c.2647-3C>A c.*933-3C>A (n.*933-3C>A) c.2390-3C>A (n.2390-3C>A) c.*2789-3C>A (n.*2789-3C>A) c.2295-3C>A c.*1192-3C>A (n.*1192-3C>A) c.2702-3C>A c.2723-3C>A (n.2723-3C>A) c.*2186-3C>A (n.*2186-3C>A) c.*1309-3C>A (n.*1309-3C>A) c.1696-3C>A c.2600-3C>A (n.2600-3C>A) c.2711-3C>A (n.2711-3C>A) c.2765-3C>A (n.2765-3C>A) c.284-3C>A (n.284-3C>A) c.2654-3C>A (n.2654-3C>A) n.582+1753G>T c.2339-3C>A (n.2339-3C>A) c.2336-3C>A (n.2336-3C>A) n.3127-3C>A n.2962-3C>A n.600+1753G>T n.475+3641G>T | gnomAD v4 |
| 3 | g.193667167C>T | CA2669104821 | OPA1 | c.2873-3C>T (n.2873-3C>T) c.2708-3C>T (n.2708-3C>T) c.2819-3C>T (n.2819-3C>T) c.2762-3C>T (n.2762-3C>T) c.2647-3C>T c.*933-3C>T (n.*933-3C>T) c.2390-3C>T (n.2390-3C>T) c.*2789-3C>T (n.*2789-3C>T) c.2295-3C>T c.*1192-3C>T (n.*1192-3C>T) c.2702-3C>T c.2723-3C>T (n.2723-3C>T) c.*2186-3C>T (n.*2186-3C>T) c.*1309-3C>T (n.*1309-3C>T) c.1696-3C>T c.2600-3C>T (n.2600-3C>T) c.2711-3C>T (n.2711-3C>T) c.2765-3C>T (n.2765-3C>T) c.284-3C>T (n.284-3C>T) c.2654-3C>T (n.2654-3C>T) n.582+1753G>A c.2339-3C>T (n.2339-3C>T) c.2336-3C>T (n.2336-3C>T) n.3127-3C>T n.2962-3C>T n.600+1753G>A n.475+3641G>A | gnomAD v4 |
| 3 | g.193667167_193667171delinsCAGTT | CA1430274665 | OPA1 | c.2873-3_2874delinsCAGTT c.2708-3_2709delinsCAGTT c.2819-3_2820delinsCAGTT c.2762-3_2763delinsCAGTT c.2647-3_2648delinsCAGTT c.*933-3_*934delinsCAGTT c.2390-3_2391delinsCAGTT c.*2789-3_*2790delinsCAGTT c.2295-3_2296delinsCAGTT c.*1192-3_*1193delinsCAGTT c.2702-3_2703delinsCAGTT c.2723-3_2724delinsCAGTT c.*2186-3_*2187delinsCAGTT c.*1309-3_*1310delinsCAGTT c.1696-3_1697delinsCAGTT c.2600-3_2601delinsCAGTT c.2711-3_2712delinsCAGTT c.2765-3_2766delinsCAGTT c.284-3_285delinsCAGTT c.2654-3_2655delinsCAGTT n.582+1749_582+1753delinsAACTG c.2339-3_2340delinsCAGTT c.2336-3_2337delinsCAGTT n.3127-3_3128delinsCAGTT n.2962-3_2963delinsCAGTT n.600+1749_600+1753delinsAACTG n.475+3637_475+3641delinsAACTG | |
| 3 | g.193667168A= | CA1430274674 | OPA1 | c.2873-2A= (n.2873-2A=) c.2708-2A= (n.2708-2A=) c.2819-2A= (n.2819-2A=) c.2762-2A= (n.2762-2A=) c.2647-2A= c.*933-2A= (n.*933-2A=) c.2390-2A= (n.2390-2A=) c.*2789-2A= (n.*2789-2A=) c.2295-2A= c.*1192-2A= (n.*1192-2A=) c.2702-2A= c.2723-2A= (n.2723-2A=) c.*2186-2A= (n.*2186-2A=) c.*1309-2A= (n.*1309-2A=) c.1696-2A= c.2600-2A= (n.2600-2A=) c.2711-2A= (n.2711-2A=) c.2765-2A= (n.2765-2A=) c.284-2A= (n.284-2A=) c.2654-2A= (n.2654-2A=) n.582+1752T= c.2339-2A= (n.2339-2A=) c.2336-2A= (n.2336-2A=) n.3127-2A= n.2962-2A= n.600+1752T= n.475+3640T= | |
| 3 | g.193667168A>C | CA355797043 | OPA1 | c.2873-2A>C (n.2873-2A>C) c.2708-2A>C (n.2708-2A>C) c.2819-2A>C (n.2819-2A>C) c.2762-2A>C (n.2762-2A>C) c.2647-2A>C c.*933-2A>C (n.*933-2A>C) c.2390-2A>C (n.2390-2A>C) c.*2789-2A>C (n.*2789-2A>C) c.2295-2A>C c.*1192-2A>C (n.*1192-2A>C) c.2702-2A>C c.2723-2A>C (n.2723-2A>C) c.*2186-2A>C (n.*2186-2A>C) c.*1309-2A>C (n.*1309-2A>C) c.1696-2A>C c.2600-2A>C (n.2600-2A>C) c.2711-2A>C (n.2711-2A>C) c.2765-2A>C (n.2765-2A>C) c.284-2A>C (n.284-2A>C) c.2654-2A>C (n.2654-2A>C) n.582+1752T>G c.2339-2A>C (n.2339-2A>C) c.2336-2A>C (n.2336-2A>C) n.3127-2A>C n.2962-2A>C n.600+1752T>G n.475+3640T>G | |
| 3 | g.193667168A>G | CA10602885 | OPA1 | c.2873-2A>G (n.2873-2A>G) c.2708-2A>G (n.2708-2A>G) c.2819-2A>G (n.2819-2A>G) c.2762-2A>G (n.2762-2A>G) c.2647-2A>G c.*933-2A>G (n.*933-2A>G) c.2390-2A>G (n.2390-2A>G) c.*2789-2A>G (n.*2789-2A>G) c.2295-2A>G c.*1192-2A>G (n.*1192-2A>G) c.2702-2A>G c.2723-2A>G (n.2723-2A>G) c.*2186-2A>G (n.*2186-2A>G) c.*1309-2A>G (n.*1309-2A>G) c.1696-2A>G c.2600-2A>G (n.2600-2A>G) c.2711-2A>G (n.2711-2A>G) c.2765-2A>G (n.2765-2A>G) c.284-2A>G (n.284-2A>G) c.2654-2A>G (n.2654-2A>G) n.582+1752T>C c.2339-2A>G (n.2339-2A>G) c.2336-2A>G (n.2336-2A>G) n.3127-2A>G n.2962-2A>G n.600+1752T>C n.475+3640T>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.193667168A>T | CA355797034 | OPA1 | c.2873-2A>T (n.2873-2A>T) c.2708-2A>T (n.2708-2A>T) c.2819-2A>T (n.2819-2A>T) c.2762-2A>T (n.2762-2A>T) c.2647-2A>T c.*933-2A>T (n.*933-2A>T) c.2390-2A>T (n.2390-2A>T) c.*2789-2A>T (n.*2789-2A>T) c.2295-2A>T c.*1192-2A>T (n.*1192-2A>T) c.2702-2A>T c.2723-2A>T (n.2723-2A>T) c.*2186-2A>T (n.*2186-2A>T) c.*1309-2A>T (n.*1309-2A>T) c.1696-2A>T c.2600-2A>T (n.2600-2A>T) c.2711-2A>T (n.2711-2A>T) c.2765-2A>T (n.2765-2A>T) c.284-2A>T (n.284-2A>T) c.2654-2A>T (n.2654-2A>T) n.582+1752T>A c.2339-2A>T (n.2339-2A>T) c.2336-2A>T (n.2336-2A>T) n.3127-2A>T n.2962-2A>T n.600+1752T>A n.475+3640T>A | |
| 3 | g.193667170_193667173del | CA143822 | OPA1 | c.2873_2876del c.2708_2711del c.2819_2822del c.2762_2765del c.2647_2650del c.*933_*936del c.2390_2393del c.*2789_*2792del c.2295_2298del c.*1192_*1195del c.2702_2705del c.2723_2726del c.*2186_*2189del c.*1309_*1312del c.1696_1699del c.2600_2603del c.2711_2714del c.2765_2768del c.284_287del c.2654_2657del n.582+1749_582+1752del c.2339_2342del c.2336_2339del n.3127_3130del n.2962_2965del n.600+1749_600+1752del n.475+3637_475+3640del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193667169G>A | CA355797045 | OPA1 | c.2873-1G>A (n.2873-1G>A) c.2708-1G>A (n.2708-1G>A) c.2819-1G>A (n.2819-1G>A) c.2762-1G>A (n.2762-1G>A) c.2647-1G>A c.*933-1G>A (n.*933-1G>A) c.2390-1G>A (n.2390-1G>A) c.*2789-1G>A (n.*2789-1G>A) c.2295-1G>A c.*1192-1G>A (n.*1192-1G>A) c.2702-1G>A c.2723-1G>A (n.2723-1G>A) c.*2186-1G>A (n.*2186-1G>A) c.*1309-1G>A (n.*1309-1G>A) c.1696-1G>A c.2600-1G>A (n.2600-1G>A) c.2711-1G>A (n.2711-1G>A) c.2765-1G>A (n.2765-1G>A) c.284-1G>A (n.284-1G>A) c.2654-1G>A (n.2654-1G>A) n.582+1751C>T c.2339-1G>A (n.2339-1G>A) c.2336-1G>A (n.2336-1G>A) n.3127-1G>A n.2962-1G>A n.600+1751C>T n.475+3639C>T | gnomAD v4 |
| 3 | g.193667169G>C | CA355797048 | OPA1 | c.2873-1G>C (n.2873-1G>C) c.2708-1G>C (n.2708-1G>C) c.2819-1G>C (n.2819-1G>C) c.2762-1G>C (n.2762-1G>C) c.2647-1G>C c.*933-1G>C (n.*933-1G>C) c.2390-1G>C (n.2390-1G>C) c.*2789-1G>C (n.*2789-1G>C) c.2295-1G>C c.*1192-1G>C (n.*1192-1G>C) c.2702-1G>C c.2723-1G>C (n.2723-1G>C) c.*2186-1G>C (n.*2186-1G>C) c.*1309-1G>C (n.*1309-1G>C) c.1696-1G>C c.2600-1G>C (n.2600-1G>C) c.2711-1G>C (n.2711-1G>C) c.2765-1G>C (n.2765-1G>C) c.284-1G>C (n.284-1G>C) c.2654-1G>C (n.2654-1G>C) n.582+1751C>G c.2339-1G>C (n.2339-1G>C) c.2336-1G>C (n.2336-1G>C) n.3127-1G>C n.2962-1G>C n.600+1751C>G n.475+3639C>G | |
| 3 | g.193667169G>T | CA355797051 | OPA1 | c.2873-1G>T (n.2873-1G>T) c.2708-1G>T (n.2708-1G>T) c.2819-1G>T (n.2819-1G>T) c.2762-1G>T (n.2762-1G>T) c.2647-1G>T c.*933-1G>T (n.*933-1G>T) c.2390-1G>T (n.2390-1G>T) c.*2789-1G>T (n.*2789-1G>T) c.2295-1G>T c.*1192-1G>T (n.*1192-1G>T) c.2702-1G>T c.2723-1G>T (n.2723-1G>T) c.*2186-1G>T (n.*2186-1G>T) c.*1309-1G>T (n.*1309-1G>T) c.1696-1G>T c.2600-1G>T (n.2600-1G>T) c.2711-1G>T (n.2711-1G>T) c.2765-1G>T (n.2765-1G>T) c.284-1G>T (n.284-1G>T) c.2654-1G>T (n.2654-1G>T) n.582+1751C>A c.2339-1G>T (n.2339-1G>T) c.2336-1G>T (n.2336-1G>T) n.3127-1G>T n.2962-1G>T n.600+1751C>A n.475+3639C>A | |
| 3 | g.193667170T>A | CA355797056 | OPA1 | c.2873T>A (p.Val958Asp) c.2708T>A (p.Val903Asp) c.2819T>A (p.Val940Asp) c.2762T>A (p.Val921Asp) c.2647T>A c.*933T>A (n.*933T>A) c.2390T>A (p.Val797Asp) c.*2789T>A (n.*2789T>A) c.2295T>A c.*1192T>A (n.*1192T>A) c.2702T>A c.2723T>A (p.Val908Asp) c.*2186T>A (n.*2186T>A) c.*1309T>A (n.*1309T>A) c.1696T>A c.2600T>A (p.Val867Asp) c.2711T>A (p.Val904Asp) c.2765T>A (p.Val922Asp) c.284T>A (p.Val95Asp) c.2654T>A (p.Val885Asp) n.582+1750A>T c.2339T>A (p.Val780Asp) c.2336T>A (p.Val779Asp) n.3127T>A n.2962T>A n.600+1750A>T n.475+3638A>T | |
| 3 | g.193667170T>C | CA355797058 | OPA1 | c.2873T>C (p.Val958Ala) c.2708T>C (p.Val903Ala) c.2819T>C (p.Val940Ala) c.2762T>C (p.Val921Ala) c.2647T>C c.*933T>C (n.*933T>C) c.2390T>C (p.Val797Ala) c.*2789T>C (n.*2789T>C) c.2295T>C c.*1192T>C (n.*1192T>C) c.2702T>C c.2723T>C (p.Val908Ala) c.*2186T>C (n.*2186T>C) c.*1309T>C (n.*1309T>C) c.1696T>C c.2600T>C (p.Val867Ala) c.2711T>C (p.Val904Ala) c.2765T>C (p.Val922Ala) c.284T>C (p.Val95Ala) c.2654T>C (p.Val885Ala) n.582+1750A>G c.2339T>C (p.Val780Ala) c.2336T>C (p.Val779Ala) n.3127T>C n.2962T>C n.600+1750A>G n.475+3638A>G | gnomAD v4 |
| 3 | g.193667170T>G | CA90558234 | OPA1 | c.2873T>G (p.Val958Gly) c.2708T>G (p.Val903Gly) c.2819T>G (p.Val940Gly) c.2762T>G (p.Val921Gly) c.2647T>G c.*933T>G (n.*933T>G) c.2390T>G (p.Val797Gly) c.*2789T>G (n.*2789T>G) c.2295T>G c.*1192T>G (n.*1192T>G) c.2702T>G c.2723T>G (p.Val908Gly) c.*2186T>G (n.*2186T>G) c.*1309T>G (n.*1309T>G) c.1696T>G c.2600T>G (p.Val867Gly) c.2711T>G (p.Val904Gly) c.2765T>G (p.Val922Gly) c.284T>G (p.Val95Gly) c.2654T>G (p.Val885Gly) n.582+1750A>C c.2339T>G (p.Val780Gly) c.2336T>G (p.Val779Gly) n.3127T>G n.2962T>G n.600+1750A>C n.475+3638A>C | dbSNP |
| 3 | g.193667170T= | CA1430233433 | OPA1 | c.2873T= (p.Val958=) c.2708T= (p.Val903=) c.2819T= (p.Val940=) c.2762T= (p.Val921=) c.2647T= c.*933T= (n.*933T=) c.2390T= (p.Val797=) c.*2789T= (n.*2789T=) c.2295T= c.*1192T= (n.*1192T=) c.2702T= c.2723T= (p.Val908=) c.*2186T= (n.*2186T=) c.*1309T= (n.*1309T=) c.1696T= c.2600T= (p.Val867=) c.2711T= (p.Val904=) c.2765T= (p.Val922=) c.284T= (p.Val95=) c.2654T= (p.Val885=) n.582+1750A= c.2339T= (p.Val780=) c.2336T= (p.Val779=) n.3127T= n.2962T= n.600+1750A= n.475+3638A= | |
| 3 | g.193667170_193667171del | CA2586973383 | OPA1 | c.2873_2874del (p.Val958GlufsTer8) c.2708_2709del (p.Val903GlufsTer8) c.2819_2820del (p.Val940GlufsTer8) c.2762_2763del (p.Val921GlufsTer8) c.2647_2648del c.*933_*934del (n.*933_*934del) c.2390_2391del (p.Val797GlufsTer8) c.*2789_*2790del (n.*2789_*2790del) c.2295_2296del c.*1192_*1193del (n.*1192_*1193del) c.2702_2703del c.2723_2724del (p.Val908GlufsTer8) c.*2186_*2187del (n.*2186_*2187del) c.*1309_*1310del (n.*1309_*1310del) c.1696_1697del c.2600_2601del (p.Val867GlufsTer8) c.2711_2712del (p.Val904GlufsTer8) c.2765_2766del (p.Val922GlufsTer8) c.284_285del (p.Val95GlufsTer8) c.2654_2655del (p.Val885GlufsTer8) n.582+1749_582+1750del c.2339_2340del (p.Val780GlufsTer8) c.2336_2337del (p.Val779GlufsTer8) n.3127_3128del n.2962_2963del n.600+1749_600+1750del n.475+3637_475+3638del | |
| 3 | g.193667171del | CA2669104822 | OPA1 | c.2874del (p.Arg959GlyfsTer3) c.2709del (p.Arg904GlyfsTer3) c.2820del (p.Arg941GlyfsTer3) c.2763del (p.Arg922GlyfsTer3) c.2648del c.*934del (n.*934del) c.2391del (p.Arg798GlyfsTer3) c.*2790del (n.*2790del) c.2296del c.*1193del (n.*1193del) c.2703del c.2724del (p.Arg909GlyfsTer3) c.*2187del (n.*2187del) c.*1310del (n.*1310del) c.1697del c.2601del (p.Arg868GlyfsTer3) c.2712del (p.Arg905GlyfsTer3) c.2766del (p.Arg923GlyfsTer3) c.285del (p.Arg96GlyfsTer3) c.2655del (p.Arg886GlyfsTer3) n.582+1750del c.2340del (p.Arg781GlyfsTer3) c.2337del (p.Arg780GlyfsTer3) n.3128del n.2963del n.600+1750del n.475+3638del | gnomAD v4 |
| 3 | g.193667171T>A | CA437441944 | OPA1 | c.2874T>A (p.Val958=) c.2709T>A (p.Val903=) c.2820T>A (p.Val940=) c.2763T>A (p.Val921=) c.2648T>A c.*934T>A (n.*934T>A) c.2391T>A (p.Val797=) c.*2790T>A (n.*2790T>A) c.2296T>A c.*1193T>A (n.*1193T>A) c.2703T>A c.2724T>A (p.Val908=) c.*2187T>A (n.*2187T>A) c.*1310T>A (n.*1310T>A) c.1697T>A c.2601T>A (p.Val867=) c.2712T>A (p.Val904=) c.2766T>A (p.Val922=) c.285T>A (p.Val95=) c.2655T>A (p.Val885=) n.582+1749A>T c.2340T>A (p.Val780=) c.2337T>A (p.Val779=) n.3128T>A n.2963T>A n.600+1749A>T n.475+3637A>T | |
| 3 | g.193667171T>C | CA2759777 | OPA1 | c.2874T>C (p.Val958=) c.2709T>C (p.Val903=) c.2820T>C (p.Val940=) c.2763T>C (p.Val921=) c.2648T>C c.*934T>C (n.*934T>C) c.2391T>C (p.Val797=) c.*2790T>C (n.*2790T>C) c.2296T>C c.*1193T>C (n.*1193T>C) c.2703T>C c.2724T>C (p.Val908=) c.*2187T>C (n.*2187T>C) c.*1310T>C (n.*1310T>C) c.1697T>C c.2601T>C (p.Val867=) c.2712T>C (p.Val904=) c.2766T>C (p.Val922=) c.285T>C (p.Val95=) c.2655T>C (p.Val885=) n.582+1749A>G c.2340T>C (p.Val780=) c.2337T>C (p.Val779=) n.3128T>C n.2963T>C n.600+1749A>G n.475+3637A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193667171T>G | CA437441945 | OPA1 | c.2874T>G (p.Val958=) c.2709T>G (p.Val903=) c.2820T>G (p.Val940=) c.2763T>G (p.Val921=) c.2648T>G c.*934T>G (n.*934T>G) c.2391T>G (p.Val797=) c.*2790T>G (n.*2790T>G) c.2296T>G c.*1193T>G (n.*1193T>G) c.2703T>G c.2724T>G (p.Val908=) c.*2187T>G (n.*2187T>G) c.*1310T>G (n.*1310T>G) c.1697T>G c.2601T>G (p.Val867=) c.2712T>G (p.Val904=) c.2766T>G (p.Val922=) c.285T>G (p.Val95=) c.2655T>G (p.Val885=) n.582+1749A>C c.2340T>G (p.Val780=) c.2337T>G (p.Val779=) n.3128T>G n.2963T>G n.600+1749A>C n.475+3637A>C | |
| 3 | g.193667171T= | CA1430233444 | OPA1 | c.2874T= (p.Val958=) c.2709T= (p.Val903=) c.2820T= (p.Val940=) c.2763T= (p.Val921=) c.2648T= c.*934T= (n.*934T=) c.2391T= (p.Val797=) c.*2790T= (n.*2790T=) c.2296T= c.*1193T= (n.*1193T=) c.2703T= c.2724T= (p.Val908=) c.*2187T= (n.*2187T=) c.*1310T= (n.*1310T=) c.1697T= c.2601T= (p.Val867=) c.2712T= (p.Val904=) c.2766T= (p.Val922=) c.285T= (p.Val95=) c.2655T= (p.Val885=) n.582+1749A= c.2340T= (p.Val780=) c.2337T= (p.Val779=) n.3128T= n.2963T= n.600+1749A= n.475+3637A= | |
| 3 | g.193667172A>C | CA437441946 | OPA1 | c.2875A>C (p.Arg959=) c.2710A>C (p.Arg904=) c.2821A>C (p.Arg941=) c.2764A>C (p.Arg922=) c.2649A>C c.*935A>C (n.*935A>C) c.2392A>C (p.Arg798=) c.*2791A>C (n.*2791A>C) c.2297A>C c.*1194A>C (n.*1194A>C) c.2704A>C c.2725A>C (p.Arg909=) c.*2188A>C (n.*2188A>C) c.*1311A>C (n.*1311A>C) c.1698A>C c.2602A>C (p.Arg868=) c.2713A>C (p.Arg905=) c.2767A>C (p.Arg923=) c.286A>C (p.Arg96=) c.2656A>C (p.Arg886=) n.582+1748T>G c.2341A>C (p.Arg781=) c.2338A>C (p.Arg780=) n.3129A>C n.2964A>C n.600+1748T>G n.475+3636T>G | |
| 3 | g.193667172A>G | CA355797069 | OPA1 | c.2875A>G (p.Arg959Gly) c.2710A>G (p.Arg904Gly) c.2821A>G (p.Arg941Gly) c.2764A>G (p.Arg922Gly) c.2649A>G c.*935A>G (n.*935A>G) c.2392A>G (p.Arg798Gly) c.*2791A>G (n.*2791A>G) c.2297A>G c.*1194A>G (n.*1194A>G) c.2704A>G c.2725A>G (p.Arg909Gly) c.*2188A>G (n.*2188A>G) c.*1311A>G (n.*1311A>G) c.1698A>G c.2602A>G (p.Arg868Gly) c.2713A>G (p.Arg905Gly) c.2767A>G (p.Arg923Gly) c.286A>G (p.Arg96Gly) c.2656A>G (p.Arg886Gly) n.582+1748T>C c.2341A>G (p.Arg781Gly) c.2338A>G (p.Arg780Gly) n.3129A>G n.2964A>G n.600+1748T>C n.475+3636T>C | gnomAD v4 |
| 3 | g.193667172A>T | CA355797070 | OPA1 | c.2875A>T (p.Arg959Trp) c.2710A>T (p.Arg904Trp) c.2821A>T (p.Arg941Trp) c.2764A>T (p.Arg922Trp) c.2649A>T c.*935A>T (n.*935A>T) c.2392A>T (p.Arg798Trp) c.*2791A>T (n.*2791A>T) c.2297A>T c.*1194A>T (n.*1194A>T) c.2704A>T c.2725A>T (p.Arg909Trp) c.*2188A>T (n.*2188A>T) c.*1311A>T (n.*1311A>T) c.1698A>T c.2602A>T (p.Arg868Trp) c.2713A>T (p.Arg905Trp) c.2767A>T (p.Arg923Trp) c.286A>T (p.Arg96Trp) c.2656A>T (p.Arg886Trp) n.582+1748T>A c.2341A>T (p.Arg781Trp) c.2338A>T (p.Arg780Trp) n.3129A>T n.2964A>T n.600+1748T>A n.475+3636T>A | gnomAD v4 |
| 3 | g.193667173G>A | CA355797074 | OPA1 | c.2876G>A (p.Arg959Lys) c.2711G>A (p.Arg904Lys) c.2822G>A (p.Arg941Lys) c.2765G>A (p.Arg922Lys) c.2650G>A c.*936G>A (n.*936G>A) c.2393G>A (p.Arg798Lys) c.*2792G>A (n.*2792G>A) c.2298G>A c.*1195G>A (n.*1195G>A) c.2705G>A c.2726G>A (p.Arg909Lys) c.*2189G>A (n.*2189G>A) c.*1312G>A (n.*1312G>A) c.1699G>A c.2603G>A (p.Arg868Lys) c.2714G>A (p.Arg905Lys) c.2768G>A (p.Arg923Lys) c.287G>A (p.Arg96Lys) c.2657G>A (p.Arg886Lys) n.582+1747C>T c.2342G>A (p.Arg781Lys) c.2339G>A (p.Arg780Lys) n.3130G>A n.2965G>A n.600+1747C>T n.475+3635C>T | gnomAD v4 |
| 3 | g.193667173G>C | CA355797075 | OPA1 | c.2876G>C (p.Arg959Thr) c.2711G>C (p.Arg904Thr) c.2822G>C (p.Arg941Thr) c.2765G>C (p.Arg922Thr) c.2650G>C c.*936G>C (n.*936G>C) c.2393G>C (p.Arg798Thr) c.*2792G>C (n.*2792G>C) c.2298G>C c.*1195G>C (n.*1195G>C) c.2705G>C c.2726G>C (p.Arg909Thr) c.*2189G>C (n.*2189G>C) c.*1312G>C (n.*1312G>C) c.1699G>C c.2603G>C (p.Arg868Thr) c.2714G>C (p.Arg905Thr) c.2768G>C (p.Arg923Thr) c.287G>C (p.Arg96Thr) c.2657G>C (p.Arg886Thr) n.582+1747C>G c.2342G>C (p.Arg781Thr) c.2339G>C (p.Arg780Thr) n.3130G>C n.2965G>C n.600+1747C>G n.475+3635C>G | |
| 3 | g.193667173G>T | CA355797076 | OPA1 | c.2876G>T (p.Arg959Met) c.2711G>T (p.Arg904Met) c.2822G>T (p.Arg941Met) c.2765G>T (p.Arg922Met) c.2650G>T c.*936G>T (n.*936G>T) c.2393G>T (p.Arg798Met) c.*2792G>T (n.*2792G>T) c.2298G>T c.*1195G>T (n.*1195G>T) c.2705G>T c.2726G>T (p.Arg909Met) c.*2189G>T (n.*2189G>T) c.*1312G>T (n.*1312G>T) c.1699G>T c.2603G>T (p.Arg868Met) c.2714G>T (p.Arg905Met) c.2768G>T (p.Arg923Met) c.287G>T (p.Arg96Met) c.2657G>T (p.Arg886Met) n.582+1747C>A c.2342G>T (p.Arg781Met) c.2339G>T (p.Arg780Met) n.3130G>T n.2965G>T n.600+1747C>A n.475+3635C>A | |
| 3 | g.193667174G>A | CA437441947 | OPA1 | c.2877G>A (p.Arg959=) c.2712G>A (p.Arg904=) c.2823G>A (p.Arg941=) c.2766G>A (p.Arg922=) c.2651G>A c.*937G>A (n.*937G>A) c.2394G>A (p.Arg798=) c.*2793G>A (n.*2793G>A) c.2299G>A c.*1196G>A (n.*1196G>A) c.2706G>A c.2727G>A (p.Arg909=) c.*2190G>A (n.*2190G>A) c.*1313G>A (n.*1313G>A) c.1700G>A c.2604G>A (p.Arg868=) c.2715G>A (p.Arg905=) c.2769G>A (p.Arg923=) c.288G>A (p.Arg96=) c.2658G>A (p.Arg886=) n.582+1746C>T c.2343G>A (p.Arg781=) c.2340G>A (p.Arg780=) n.3131G>A n.2966G>A n.600+1746C>T n.475+3634C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.193667174G>C | CA355797079 | OPA1 | c.2877G>C (p.Arg959Ser) c.2712G>C (p.Arg904Ser) c.2823G>C (p.Arg941Ser) c.2766G>C (p.Arg922Ser) c.2651G>C c.*937G>C (n.*937G>C) c.2394G>C (p.Arg798Ser) c.*2793G>C (n.*2793G>C) c.2299G>C c.*1196G>C (n.*1196G>C) c.2706G>C c.2727G>C (p.Arg909Ser) c.*2190G>C (n.*2190G>C) c.*1313G>C (n.*1313G>C) c.1700G>C c.2604G>C (p.Arg868Ser) c.2715G>C (p.Arg905Ser) c.2769G>C (p.Arg923Ser) c.288G>C (p.Arg96Ser) c.2658G>C (p.Arg886Ser) n.582+1746C>G c.2343G>C (p.Arg781Ser) c.2340G>C (p.Arg780Ser) n.3131G>C n.2966G>C n.600+1746C>G n.475+3634C>G | |
| 3 | g.193667174G= | CA1430233452 | OPA1 | c.2877G= (p.Arg959=) c.2712G= (p.Arg904=) c.2823G= (p.Arg941=) c.2766G= (p.Arg922=) c.2651G= c.*937G= (n.*937G=) c.2394G= (p.Arg798=) c.*2793G= (n.*2793G=) c.2299G= c.*1196G= (n.*1196G=) c.2706G= c.2727G= (p.Arg909=) c.*2190G= (n.*2190G=) c.*1313G= (n.*1313G=) c.1700G= c.2604G= (p.Arg868=) c.2715G= (p.Arg905=) c.2769G= (p.Arg923=) c.288G= (p.Arg96=) c.2658G= (p.Arg886=) n.582+1746C= c.2343G= (p.Arg781=) c.2340G= (p.Arg780=) n.3131G= n.2966G= n.600+1746C= n.475+3634C= | |
| 3 | g.193667174G>T | CA355797083 | OPA1 | c.2877G>T (p.Arg959Ser) c.2712G>T (p.Arg904Ser) c.2823G>T (p.Arg941Ser) c.2766G>T (p.Arg922Ser) c.2651G>T c.*937G>T (n.*937G>T) c.2394G>T (p.Arg798Ser) c.*2793G>T (n.*2793G>T) c.2299G>T c.*1196G>T (n.*1196G>T) c.2706G>T c.2727G>T (p.Arg909Ser) c.*2190G>T (n.*2190G>T) c.*1313G>T (n.*1313G>T) c.1700G>T c.2604G>T (p.Arg868Ser) c.2715G>T (p.Arg905Ser) c.2769G>T (p.Arg923Ser) c.288G>T (p.Arg96Ser) c.2658G>T (p.Arg886Ser) n.582+1746C>A c.2343G>T (p.Arg781Ser) c.2340G>T (p.Arg780Ser) n.3131G>T n.2966G>T n.600+1746C>A n.475+3634C>A | |
| 3 | g.193667175C>A | CA437441948 | OPA1 | c.2878C>A (p.Arg960=) c.2713C>A (p.Arg905=) c.2824C>A (p.Arg942=) c.2767C>A (p.Arg923=) c.2652C>A c.*938C>A (n.*938C>A) c.2395C>A (p.Arg799=) c.*2794C>A (n.*2794C>A) c.2300C>A c.*1197C>A (n.*1197C>A) c.2707C>A c.2728C>A (p.Arg910=) c.*2191C>A (n.*2191C>A) c.*1314C>A (n.*1314C>A) c.1701C>A c.2605C>A (p.Arg869=) c.2716C>A (p.Arg906=) c.2770C>A (p.Arg924=) c.289C>A (p.Arg97=) c.2659C>A (p.Arg887=) n.582+1745G>T c.2344C>A (p.Arg782=) c.2341C>A (p.Arg781=) n.3132C>A n.2967C>A n.600+1745G>T n.475+3633G>T | gnomAD v4 |
| 3 | g.193667175C= | CA1430233460 | OPA1 | c.2878C= (p.Arg960=) c.2713C= (p.Arg905=) c.2824C= (p.Arg942=) c.2767C= (p.Arg923=) c.2652C= c.*938C= (n.*938C=) c.2395C= (p.Arg799=) c.*2794C= (n.*2794C=) c.2300C= c.*1197C= (n.*1197C=) c.2707C= c.2728C= (p.Arg910=) c.*2191C= (n.*2191C=) c.*1314C= (n.*1314C=) c.1701C= c.2605C= (p.Arg869=) c.2716C= (p.Arg906=) c.2770C= (p.Arg924=) c.289C= (p.Arg97=) c.2659C= (p.Arg887=) n.582+1745G= c.2344C= (p.Arg782=) c.2341C= (p.Arg781=) n.3132C= n.2967C= n.600+1745G= n.475+3633G= | |
| 3 | g.193667175C>G | CA355797086 | OPA1 | c.2878C>G (p.Arg960Gly) c.2713C>G (p.Arg905Gly) c.2824C>G (p.Arg942Gly) c.2767C>G (p.Arg923Gly) c.2652C>G c.*938C>G (n.*938C>G) c.2395C>G (p.Arg799Gly) c.*2794C>G (n.*2794C>G) c.2300C>G c.*1197C>G (n.*1197C>G) c.2707C>G c.2728C>G (p.Arg910Gly) c.*2191C>G (n.*2191C>G) c.*1314C>G (n.*1314C>G) c.1701C>G c.2605C>G (p.Arg869Gly) c.2716C>G (p.Arg906Gly) c.2770C>G (p.Arg924Gly) c.289C>G (p.Arg97Gly) c.2659C>G (p.Arg887Gly) n.582+1745G>C c.2344C>G (p.Arg782Gly) c.2341C>G (p.Arg781Gly) n.3132C>G n.2967C>G n.600+1745G>C n.475+3633G>C | |
| 3 | g.193667175C>T | CA355797090 | OPA1 | c.2878C>T (p.Arg960Ter) c.2713C>T (p.Arg905Ter) c.2824C>T (p.Arg942Ter) c.2767C>T (p.Arg923Ter) c.2652C>T c.*938C>T (n.*938C>T) c.2395C>T (p.Arg799Ter) c.*2794C>T (n.*2794C>T) c.2300C>T c.*1197C>T (n.*1197C>T) c.2707C>T c.2728C>T (p.Arg910Ter) c.*2191C>T (n.*2191C>T) c.*1314C>T (n.*1314C>T) c.1701C>T c.2605C>T (p.Arg869Ter) c.2716C>T (p.Arg906Ter) c.2770C>T (p.Arg924Ter) c.289C>T (p.Arg97Ter) c.2659C>T (p.Arg887Ter) n.582+1745G>A c.2344C>T (p.Arg782Ter) c.2341C>T (p.Arg781Ter) n.3132C>T n.2967C>T n.600+1745G>A n.475+3633G>A | dbSNP gnomAD v4 COSMIC |
| 3 | g.193667176G>A | CA2759778 | OPA1 | c.2879G>A (p.Arg960Gln) c.2714G>A (p.Arg905Gln) c.2825G>A (p.Arg942Gln) c.2768G>A (p.Arg923Gln) c.2653G>A c.*939G>A (n.*939G>A) c.2396G>A (p.Arg799Gln) c.*2795G>A (n.*2795G>A) c.2301G>A c.*1198G>A (n.*1198G>A) c.2708G>A c.2729G>A (p.Arg910Gln) c.*2192G>A (n.*2192G>A) c.*1315G>A (n.*1315G>A) c.1702G>A c.2606G>A (p.Arg869Gln) c.2717G>A (p.Arg906Gln) c.2771G>A (p.Arg924Gln) c.1G>A c.290G>A (p.Arg97Gln) c.2660G>A (p.Arg887Gln) n.582+1744C>T c.2345G>A (p.Arg782Gln) c.2342G>A (p.Arg781Gln) n.3133G>A n.2968G>A n.600+1744C>T n.475+3632C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193667176G>C | CA355797091 | OPA1 | c.2879G>C (p.Arg960Pro) c.2714G>C (p.Arg905Pro) c.2825G>C (p.Arg942Pro) c.2768G>C (p.Arg923Pro) c.2653G>C c.*939G>C (n.*939G>C) c.2396G>C (p.Arg799Pro) c.*2795G>C (n.*2795G>C) c.2301G>C c.*1198G>C (n.*1198G>C) c.2708G>C c.2729G>C (p.Arg910Pro) c.*2192G>C (n.*2192G>C) c.*1315G>C (n.*1315G>C) c.1702G>C c.2606G>C (p.Arg869Pro) c.2717G>C (p.Arg906Pro) c.2771G>C (p.Arg924Pro) c.1G>C c.290G>C (p.Arg97Pro) c.2660G>C (p.Arg887Pro) n.582+1744C>G c.2345G>C (p.Arg782Pro) c.2342G>C (p.Arg781Pro) n.3133G>C n.2968G>C n.600+1744C>G n.475+3632C>G | gnomAD v4 |
| 3 | g.193667176G= | CA1430233470 | OPA1 | c.2879G= (p.Arg960=) c.2714G= (p.Arg905=) c.2825G= (p.Arg942=) c.2768G= (p.Arg923=) c.2653G= c.*939G= (n.*939G=) c.2396G= (p.Arg799=) c.*2795G= (n.*2795G=) c.2301G= c.*1198G= (n.*1198G=) c.2708G= c.2729G= (p.Arg910=) c.*2192G= (n.*2192G=) c.*1315G= (n.*1315G=) c.1702G= c.2606G= (p.Arg869=) c.2717G= (p.Arg906=) c.2771G= (p.Arg924=) c.1G= c.290G= (p.Arg97=) c.2660G= (p.Arg887=) n.582+1744C= c.2345G= (p.Arg782=) c.2342G= (p.Arg781=) n.3133G= n.2968G= n.600+1744C= n.475+3632C= | |
| 3 | g.193667176G>T | CA355797093 | OPA1 | c.2879G>T (p.Arg960Leu) c.2714G>T (p.Arg905Leu) c.2825G>T (p.Arg942Leu) c.2768G>T (p.Arg923Leu) c.2653G>T c.*939G>T (n.*939G>T) c.2396G>T (p.Arg799Leu) c.*2795G>T (n.*2795G>T) c.2301G>T c.*1198G>T (n.*1198G>T) c.2708G>T c.2729G>T (p.Arg910Leu) c.*2192G>T (n.*2192G>T) c.*1315G>T (n.*1315G>T) c.1702G>T c.2606G>T (p.Arg869Leu) c.2717G>T (p.Arg906Leu) c.2771G>T (p.Arg924Leu) c.1G>T c.290G>T (p.Arg97Leu) c.2660G>T (p.Arg887Leu) n.582+1744C>A c.2345G>T (p.Arg782Leu) c.2342G>T (p.Arg781Leu) n.3133G>T n.2968G>T n.600+1744C>A n.475+3632C>A | |
| 3 | g.193667177A= | CA1430233479 | OPA1 | c.2880A= (p.Arg960=) c.2715A= (p.Arg905=) c.2826A= (p.Arg942=) c.2769A= (p.Arg923=) c.2654A= c.*940A= (n.*940A=) c.2397A= (p.Arg799=) c.*2796A= (n.*2796A=) c.2302A= c.*1199A= (n.*1199A=) c.2709A= c.2730A= (p.Arg910=) c.*2193A= (n.*2193A=) c.*1316A= (n.*1316A=) c.1703A= c.2607A= (p.Arg869=) c.2718A= (p.Arg906=) c.2772A= (p.Arg924=) c.2A= c.291A= (p.Arg97=) c.2661A= (p.Arg887=) n.582+1743T= c.2346A= (p.Arg782=) c.2343A= (p.Arg781=) n.3134A= n.2969A= n.600+1743T= n.475+3631T= | |
| 3 | g.193667177A>C | CA437441949 | OPA1 | c.2880A>C (p.Arg960=) c.2715A>C (p.Arg905=) c.2826A>C (p.Arg942=) c.2769A>C (p.Arg923=) c.2654A>C c.*940A>C (n.*940A>C) c.2397A>C (p.Arg799=) c.*2796A>C (n.*2796A>C) c.2302A>C c.*1199A>C (n.*1199A>C) c.2709A>C c.2730A>C (p.Arg910=) c.*2193A>C (n.*2193A>C) c.*1316A>C (n.*1316A>C) c.1703A>C c.2607A>C (p.Arg869=) c.2718A>C (p.Arg906=) c.2772A>C (p.Arg924=) c.2A>C c.291A>C (p.Arg97=) c.2661A>C (p.Arg887=) n.582+1743T>G c.2346A>C (p.Arg782=) c.2343A>C (p.Arg781=) n.3134A>C n.2969A>C n.600+1743T>G n.475+3631T>G | |
| 3 | g.193667177A>G | CA292630 | OPA1 | c.2880A>G (p.Arg960=) c.2715A>G (p.Arg905=) c.2826A>G (p.Arg942=) c.2769A>G (p.Arg923=) c.2654A>G c.*940A>G (n.*940A>G) c.2397A>G (p.Arg799=) c.*2796A>G (n.*2796A>G) c.2302A>G c.*1199A>G (n.*1199A>G) c.2709A>G c.2730A>G (p.Arg910=) c.*2193A>G (n.*2193A>G) c.*1316A>G (n.*1316A>G) c.1703A>G c.2607A>G (p.Arg869=) c.2718A>G (p.Arg906=) c.2772A>G (p.Arg924=) c.2A>G c.291A>G (p.Arg97=) c.2661A>G (p.Arg887=) n.582+1743T>C c.2346A>G (p.Arg782=) c.2343A>G (p.Arg781=) n.3134A>G n.2969A>G n.600+1743T>C n.475+3631T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193667177A>T | CA437441950 | OPA1 | c.2880A>T (p.Arg960=) c.2715A>T (p.Arg905=) c.2826A>T (p.Arg942=) c.2769A>T (p.Arg923=) c.2654A>T c.*940A>T (n.*940A>T) c.2397A>T (p.Arg799=) c.*2796A>T (n.*2796A>T) c.2302A>T c.*1199A>T (n.*1199A>T) c.2709A>T c.2730A>T (p.Arg910=) c.*2193A>T (n.*2193A>T) c.*1316A>T (n.*1316A>T) c.1703A>T c.2607A>T (p.Arg869=) c.2718A>T (p.Arg906=) c.2772A>T (p.Arg924=) c.2A>T c.291A>T (p.Arg97=) c.2661A>T (p.Arg887=) n.582+1743T>A c.2346A>T (p.Arg782=) c.2343A>T (p.Arg781=) n.3134A>T n.2969A>T n.600+1743T>A n.475+3631T>A | gnomAD v4 |
| 3 | g.193667178T>A | CA355797104 | OPA1 | c.2881T>A (p.Leu961Ile) c.2716T>A (p.Leu906Ile) c.2827T>A (p.Leu943Ile) c.2770T>A (p.Leu924Ile) c.2655T>A c.*941T>A (n.*941T>A) c.2398T>A (p.Leu800Ile) c.*2797T>A (n.*2797T>A) c.2303T>A c.*1200T>A (n.*1200T>A) c.2710T>A c.2731T>A (p.Leu911Ile) c.*2194T>A (n.*2194T>A) c.*1317T>A (n.*1317T>A) c.1704T>A c.2608T>A (p.Leu870Ile) c.2719T>A (p.Leu907Ile) c.2773T>A (p.Leu925Ile) c.3T>A c.292T>A (p.Leu98Ile) c.2662T>A (p.Leu888Ile) n.582+1742A>T c.2347T>A (p.Leu783Ile) c.2344T>A (p.Leu782Ile) n.3135T>A n.2970T>A n.600+1742A>T n.475+3630A>T | |
| 3 | g.193667178T>C | CA437441951 | OPA1 | c.2881T>C (p.Leu961=) c.2716T>C (p.Leu906=) c.2827T>C (p.Leu943=) c.2770T>C (p.Leu924=) c.2655T>C c.*941T>C (n.*941T>C) c.2398T>C (p.Leu800=) c.*2797T>C (n.*2797T>C) c.2303T>C c.*1200T>C (n.*1200T>C) c.2710T>C c.2731T>C (p.Leu911=) c.*2194T>C (n.*2194T>C) c.*1317T>C (n.*1317T>C) c.1704T>C c.2608T>C (p.Leu870=) c.2719T>C (p.Leu907=) c.2773T>C (p.Leu925=) c.3T>C c.292T>C (p.Leu98=) c.2662T>C (p.Leu888=) n.582+1742A>G c.2347T>C (p.Leu783=) c.2344T>C (p.Leu782=) n.3135T>C n.2970T>C n.600+1742A>G n.475+3630A>G | gnomAD v4 |
| 3 | g.193667178T>G | CA355797107 | OPA1 | c.2881T>G (p.Leu961Val) c.2716T>G (p.Leu906Val) c.2827T>G (p.Leu943Val) c.2770T>G (p.Leu924Val) c.2655T>G c.*941T>G (n.*941T>G) c.2398T>G (p.Leu800Val) c.*2797T>G (n.*2797T>G) c.2303T>G c.*1200T>G (n.*1200T>G) c.2710T>G c.2731T>G (p.Leu911Val) c.*2194T>G (n.*2194T>G) c.*1317T>G (n.*1317T>G) c.1704T>G c.2608T>G (p.Leu870Val) c.2719T>G (p.Leu907Val) c.2773T>G (p.Leu925Val) c.3T>G c.292T>G (p.Leu98Val) c.2662T>G (p.Leu888Val) n.582+1742A>C c.2347T>G (p.Leu783Val) c.2344T>G (p.Leu782Val) n.3135T>G n.2970T>G n.600+1742A>C n.475+3630A>C | |
| 3 | g.193667179T>A | CA355797113 | OPA1 | c.2882T>A (p.Leu961Ter) c.2717T>A (p.Leu906Ter) c.2828T>A (p.Leu943Ter) c.2771T>A (p.Leu924Ter) c.2656T>A c.*942T>A (n.*942T>A) c.2399T>A (p.Leu800Ter) c.*2798T>A (n.*2798T>A) c.2304T>A c.*1201T>A (n.*1201T>A) c.2711T>A c.2732T>A (p.Leu911Ter) c.*2195T>A (n.*2195T>A) c.*1318T>A (n.*1318T>A) c.1705T>A c.2609T>A (p.Leu870Ter) c.2720T>A (p.Leu907Ter) c.2774T>A (p.Leu925Ter) c.4T>A c.293T>A (p.Leu98Ter) c.2663T>A (p.Leu888Ter) n.582+1741A>T c.2348T>A (p.Leu783Ter) c.2345T>A (p.Leu782Ter) n.3136T>A n.2971T>A n.600+1741A>T n.475+3629A>T | |
| 3 | g.193667179T>C | CA355797115 | OPA1 | c.2882T>C (p.Leu961Ser) c.2717T>C (p.Leu906Ser) c.2828T>C (p.Leu943Ser) c.2771T>C (p.Leu924Ser) c.2656T>C c.*942T>C (n.*942T>C) c.2399T>C (p.Leu800Ser) c.*2798T>C (n.*2798T>C) c.2304T>C c.*1201T>C (n.*1201T>C) c.2711T>C c.2732T>C (p.Leu911Ser) c.*2195T>C (n.*2195T>C) c.*1318T>C (n.*1318T>C) c.1705T>C c.2609T>C (p.Leu870Ser) c.2720T>C (p.Leu907Ser) c.2774T>C (p.Leu925Ser) c.4T>C c.293T>C (p.Leu98Ser) c.2663T>C (p.Leu888Ser) n.582+1741A>G c.2348T>C (p.Leu783Ser) c.2345T>C (p.Leu782Ser) n.3136T>C n.2971T>C n.600+1741A>G n.475+3629A>G | gnomAD v4 |
| 3 | g.193667179T>G | CA355797120 | OPA1 | c.2882T>G (p.Leu961Ter) c.2717T>G (p.Leu906Ter) c.2828T>G (p.Leu943Ter) c.2771T>G (p.Leu924Ter) c.2656T>G c.*942T>G (n.*942T>G) c.2399T>G (p.Leu800Ter) c.*2798T>G (n.*2798T>G) c.2304T>G c.*1201T>G (n.*1201T>G) c.2711T>G c.2732T>G (p.Leu911Ter) c.*2195T>G (n.*2195T>G) c.*1318T>G (n.*1318T>G) c.1705T>G c.2609T>G (p.Leu870Ter) c.2720T>G (p.Leu907Ter) c.2774T>G (p.Leu925Ter) c.4T>G c.293T>G (p.Leu98Ter) c.2663T>G (p.Leu888Ter) n.582+1741A>C c.2348T>G (p.Leu783Ter) c.2345T>G (p.Leu782Ter) n.3136T>G n.2971T>G n.600+1741A>C n.475+3629A>C | |
| 3 | g.193667182_193667288del | CA2580070555 | OPA1 | c.2885_2983+8del c.2720_2818+8del c.2831_2929+8del c.2774_2872+8del c.2659_2757+8del c.*945_*1043+8del c.2402_2500+8del c.*2801_*2899+8del c.2307_2405+8del c.*1204_*1302+8del c.2714_2812+8del c.2735_2833+8del c.*2198_*2296+8del c.*1321_*1419+8del c.1708_1806+8del c.2612_2710+8del c.2723_2821+8del c.2777_2875+8del c.7_105+8del c.296_394+8del c.2666_2764+8del n.582+1635_582+1741del c.2351_2449+8del c.2348_2446+8del n.3139_3237+8del n.2974_3072+8del n.600+1635_600+1741del n.475+3523_475+3629del | ClinVar |
| 3 | g.193667180A= | CA1430233485 | OPA1 | c.2883A= (p.Leu961=) c.2718A= (p.Leu906=) c.2829A= (p.Leu943=) c.2772A= (p.Leu924=) c.2657A= c.*943A= (n.*943A=) c.2400A= (p.Leu800=) c.*2799A= (n.*2799A=) c.2305A= c.*1202A= (n.*1202A=) c.2712A= c.2733A= (p.Leu911=) c.*2196A= (n.*2196A=) c.*1319A= (n.*1319A=) c.1706A= c.2610A= (p.Leu870=) c.2721A= (p.Leu907=) c.2775A= (p.Leu925=) c.5A= c.294A= (p.Leu98=) c.2664A= (p.Leu888=) n.582+1740T= c.2349A= (p.Leu783=) c.2346A= (p.Leu782=) n.3137A= n.2972A= n.600+1740T= n.475+3628T= | |
| 3 | g.193667180A>C | CA355797124 | OPA1 | c.2883A>C (p.Leu961Phe) c.2718A>C (p.Leu906Phe) c.2829A>C (p.Leu943Phe) c.2772A>C (p.Leu924Phe) c.2657A>C c.*943A>C (n.*943A>C) c.2400A>C (p.Leu800Phe) c.*2799A>C (n.*2799A>C) c.2305A>C c.*1202A>C (n.*1202A>C) c.2712A>C c.2733A>C (p.Leu911Phe) c.*2196A>C (n.*2196A>C) c.*1319A>C (n.*1319A>C) c.1706A>C c.2610A>C (p.Leu870Phe) c.2721A>C (p.Leu907Phe) c.2775A>C (p.Leu925Phe) c.5A>C c.294A>C (p.Leu98Phe) c.2664A>C (p.Leu888Phe) n.582+1740T>G c.2349A>C (p.Leu783Phe) c.2346A>C (p.Leu782Phe) n.3137A>C n.2972A>C n.600+1740T>G n.475+3628T>G | |
| 3 | g.193667180A>G | CA437441952 | OPA1 | c.2883A>G (p.Leu961=) c.2718A>G (p.Leu906=) c.2829A>G (p.Leu943=) c.2772A>G (p.Leu924=) c.2657A>G c.*943A>G (n.*943A>G) c.2400A>G (p.Leu800=) c.*2799A>G (n.*2799A>G) c.2305A>G c.*1202A>G (n.*1202A>G) c.2712A>G c.2733A>G (p.Leu911=) c.*2196A>G (n.*2196A>G) c.*1319A>G (n.*1319A>G) c.1706A>G c.2610A>G (p.Leu870=) c.2721A>G (p.Leu907=) c.2775A>G (p.Leu925=) c.5A>G c.294A>G (p.Leu98=) c.2664A>G (p.Leu888=) n.582+1740T>C c.2349A>G (p.Leu783=) c.2346A>G (p.Leu782=) n.3137A>G n.2972A>G n.600+1740T>C n.475+3628T>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.193667180A>T | CA355797125 | OPA1 | c.2883A>T (p.Leu961Phe) c.2718A>T (p.Leu906Phe) c.2829A>T (p.Leu943Phe) c.2772A>T (p.Leu924Phe) c.2657A>T c.*943A>T (n.*943A>T) c.2400A>T (p.Leu800Phe) c.*2799A>T (n.*2799A>T) c.2305A>T c.*1202A>T (n.*1202A>T) c.2712A>T c.2733A>T (p.Leu911Phe) c.*2196A>T (n.*2196A>T) c.*1319A>T (n.*1319A>T) c.1706A>T c.2610A>T (p.Leu870Phe) c.2721A>T (p.Leu907Phe) c.2775A>T (p.Leu925Phe) c.5A>T c.294A>T (p.Leu98Phe) c.2664A>T (p.Leu888Phe) n.582+1740T>A c.2349A>T (p.Leu783Phe) c.2346A>T (p.Leu782Phe) n.3137A>T n.2972A>T n.600+1740T>A n.475+3628T>A | gnomAD v4 |
| 3 | g.193667181G>A | CA355797127 | OPA1 | c.2884G>A (p.Glu962Lys) c.2719G>A (p.Glu907Lys) c.2830G>A (p.Glu944Lys) c.2773G>A (p.Glu925Lys) c.2658G>A c.*944G>A (n.*944G>A) c.2401G>A (p.Glu801Lys) c.*2800G>A (n.*2800G>A) c.2306G>A c.*1203G>A (n.*1203G>A) c.2713G>A c.2734G>A (p.Glu912Lys) c.*2197G>A (n.*2197G>A) c.*1320G>A (n.*1320G>A) c.1707G>A c.2611G>A (p.Glu871Lys) c.2722G>A (p.Glu908Lys) c.2776G>A (p.Glu926Lys) c.6G>A c.295G>A (p.Glu99Lys) c.2665G>A (p.Glu889Lys) n.582+1739C>T c.2350G>A (p.Glu784Lys) c.2347G>A (p.Glu783Lys) n.3138G>A n.2973G>A n.600+1739C>T n.475+3627C>T | |
| 3 | g.193667181G>C | CA355797129 | OPA1 | c.2884G>C (p.Glu962Gln) c.2719G>C (p.Glu907Gln) c.2830G>C (p.Glu944Gln) c.2773G>C (p.Glu925Gln) c.2658G>C c.*944G>C (n.*944G>C) c.2401G>C (p.Glu801Gln) c.*2800G>C (n.*2800G>C) c.2306G>C c.*1203G>C (n.*1203G>C) c.2713G>C c.2734G>C (p.Glu912Gln) c.*2197G>C (n.*2197G>C) c.*1320G>C (n.*1320G>C) c.1707G>C c.2611G>C (p.Glu871Gln) c.2722G>C (p.Glu908Gln) c.2776G>C (p.Glu926Gln) c.6G>C c.295G>C (p.Glu99Gln) c.2665G>C (p.Glu889Gln) n.582+1739C>G c.2350G>C (p.Glu784Gln) c.2347G>C (p.Glu783Gln) n.3138G>C n.2973G>C n.600+1739C>G n.475+3627C>G | gnomAD v4 |
| 3 | g.193667181G>T | CA355797132 | OPA1 | c.2884G>T (p.Glu962Ter) c.2719G>T (p.Glu907Ter) c.2830G>T (p.Glu944Ter) c.2773G>T (p.Glu925Ter) c.2658G>T c.*944G>T (n.*944G>T) c.2401G>T (p.Glu801Ter) c.*2800G>T (n.*2800G>T) c.2306G>T c.*1203G>T (n.*1203G>T) c.2713G>T c.2734G>T (p.Glu912Ter) c.*2197G>T (n.*2197G>T) c.*1320G>T (n.*1320G>T) c.1707G>T c.2611G>T (p.Glu871Ter) c.2722G>T (p.Glu908Ter) c.2776G>T (p.Glu926Ter) c.6G>T c.295G>T (p.Glu99Ter) c.2665G>T (p.Glu889Ter) n.582+1739C>A c.2350G>T (p.Glu784Ter) c.2347G>T (p.Glu783Ter) n.3138G>T n.2973G>T n.600+1739C>A n.475+3627C>A | |
| 3 | g.193667182A= | CA1430233489 | OPA1 | c.2885A= (p.Glu962=) c.2720A= (p.Glu907=) c.2831A= (p.Glu944=) c.2774A= (p.Glu925=) c.2659A= c.*945A= (n.*945A=) c.2402A= (p.Glu801=) c.*2801A= (n.*2801A=) c.2307A= c.*1204A= (n.*1204A=) c.2714A= c.2735A= (p.Glu912=) c.*2198A= (n.*2198A=) c.*1321A= (n.*1321A=) c.1708A= c.2612A= (p.Glu871=) c.2723A= (p.Glu908=) c.2777A= (p.Glu926=) c.7A= c.296A= (p.Glu99=) c.2666A= (p.Glu889=) n.582+1738T= c.2351A= (p.Glu784=) c.2348A= (p.Glu783=) n.3139A= n.2974A= n.600+1738T= n.475+3626T= | |
| 3 | g.193667182A>C | CA355797135 | OPA1 | c.2885A>C (p.Glu962Ala) c.2720A>C (p.Glu907Ala) c.2831A>C (p.Glu944Ala) c.2774A>C (p.Glu925Ala) c.2659A>C c.*945A>C (n.*945A>C) c.2402A>C (p.Glu801Ala) c.*2801A>C (n.*2801A>C) c.2307A>C c.*1204A>C (n.*1204A>C) c.2714A>C c.2735A>C (p.Glu912Ala) c.*2198A>C (n.*2198A>C) c.*1321A>C (n.*1321A>C) c.1708A>C c.2612A>C (p.Glu871Ala) c.2723A>C (p.Glu908Ala) c.2777A>C (p.Glu926Ala) c.7A>C c.296A>C (p.Glu99Ala) c.2666A>C (p.Glu889Ala) n.582+1738T>G c.2351A>C (p.Glu784Ala) c.2348A>C (p.Glu783Ala) n.3139A>C n.2974A>C n.600+1738T>G n.475+3626T>G | |
| 3 | g.193667182A>G | CA322211 | OPA1 | c.2885A>G (p.Glu962Gly) c.2720A>G (p.Glu907Gly) c.2831A>G (p.Glu944Gly) c.2774A>G (p.Glu925Gly) c.2659A>G c.*945A>G (n.*945A>G) c.2402A>G (p.Glu801Gly) c.*2801A>G (n.*2801A>G) c.2307A>G c.*1204A>G (n.*1204A>G) c.2714A>G c.2735A>G (p.Glu912Gly) c.*2198A>G (n.*2198A>G) c.*1321A>G (n.*1321A>G) c.1708A>G c.2612A>G (p.Glu871Gly) c.2723A>G (p.Glu908Gly) c.2777A>G (p.Glu926Gly) c.7A>G c.296A>G (p.Glu99Gly) c.2666A>G (p.Glu889Gly) n.582+1738T>C c.2351A>G (p.Glu784Gly) c.2348A>G (p.Glu783Gly) n.3139A>G n.2974A>G n.600+1738T>C n.475+3626T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.193667182A>T | CA355797149 | OPA1 | c.2885A>T (p.Glu962Val) c.2720A>T (p.Glu907Val) c.2831A>T (p.Glu944Val) c.2774A>T (p.Glu925Val) c.2659A>T c.*945A>T (n.*945A>T) c.2402A>T (p.Glu801Val) c.*2801A>T (n.*2801A>T) c.2307A>T c.*1204A>T (n.*1204A>T) c.2714A>T c.2735A>T (p.Glu912Val) c.*2198A>T (n.*2198A>T) c.*1321A>T (n.*1321A>T) c.1708A>T c.2612A>T (p.Glu871Val) c.2723A>T (p.Glu908Val) c.2777A>T (p.Glu926Val) c.7A>T c.296A>T (p.Glu99Val) c.2666A>T (p.Glu889Val) n.582+1738T>A c.2351A>T (p.Glu784Val) c.2348A>T (p.Glu783Val) n.3139A>T n.2974A>T n.600+1738T>A n.475+3626T>A | |
| 3 | g.193667183G>A | CA437441953 | OPA1 | c.2886G>A (p.Glu962=) c.2721G>A (p.Glu907=) c.2832G>A (p.Glu944=) c.2775G>A (p.Glu925=) c.2660G>A c.*946G>A (n.*946G>A) c.2403G>A (p.Glu801=) c.*2802G>A (n.*2802G>A) c.2308G>A c.*1205G>A (n.*1205G>A) c.2715G>A c.2736G>A (p.Glu912=) c.*2199G>A (n.*2199G>A) c.*1322G>A (n.*1322G>A) c.1709G>A c.2613G>A (p.Glu871=) c.2724G>A (p.Glu908=) c.2778G>A (p.Glu926=) c.8G>A c.297G>A (p.Glu99=) c.2667G>A (p.Glu889=) n.582+1737C>T c.2352G>A (p.Glu784=) c.2349G>A (p.Glu783=) n.3140G>A n.2975G>A n.600+1737C>T n.475+3625C>T | gnomAD v4 |
| 3 | g.193667183G>C | CA355797152 | OPA1 | c.2886G>C (p.Glu962Asp) c.2721G>C (p.Glu907Asp) c.2832G>C (p.Glu944Asp) c.2775G>C (p.Glu925Asp) c.2660G>C c.*946G>C (n.*946G>C) c.2403G>C (p.Glu801Asp) c.*2802G>C (n.*2802G>C) c.2308G>C c.*1205G>C (n.*1205G>C) c.2715G>C c.2736G>C (p.Glu912Asp) c.*2199G>C (n.*2199G>C) c.*1322G>C (n.*1322G>C) c.1709G>C c.2613G>C (p.Glu871Asp) c.2724G>C (p.Glu908Asp) c.2778G>C (p.Glu926Asp) c.8G>C c.297G>C (p.Glu99Asp) c.2667G>C (p.Glu889Asp) n.582+1737C>G c.2352G>C (p.Glu784Asp) c.2349G>C (p.Glu783Asp) n.3140G>C n.2975G>C n.600+1737C>G n.475+3625C>G | |
| 3 | g.193667183G>T | CA355797150 | OPA1 | c.2886G>T (p.Glu962Asp) c.2721G>T (p.Glu907Asp) c.2832G>T (p.Glu944Asp) c.2775G>T (p.Glu925Asp) c.2660G>T c.*946G>T (n.*946G>T) c.2403G>T (p.Glu801Asp) c.*2802G>T (n.*2802G>T) c.2308G>T c.*1205G>T (n.*1205G>T) c.2715G>T c.2736G>T (p.Glu912Asp) c.*2199G>T (n.*2199G>T) c.*1322G>T (n.*1322G>T) c.1709G>T c.2613G>T (p.Glu871Asp) c.2724G>T (p.Glu908Asp) c.2778G>T (p.Glu926Asp) c.8G>T c.297G>T (p.Glu99Asp) c.2667G>T (p.Glu889Asp) n.582+1737C>A c.2352G>T (p.Glu784Asp) c.2349G>T (p.Glu783Asp) n.3140G>T n.2975G>T n.600+1737C>A n.475+3625C>A | gnomAD v4 |
| 3 | g.193667184A>C | CA355797154 | OPA1 | c.2887A>C (p.Lys963Gln) c.2722A>C (p.Lys908Gln) c.2833A>C (p.Lys945Gln) c.2776A>C (p.Lys926Gln) c.2661A>C c.*947A>C (n.*947A>C) c.2404A>C (p.Lys802Gln) c.*2803A>C (n.*2803A>C) c.2309A>C c.*1206A>C (n.*1206A>C) c.2716A>C c.2737A>C (p.Lys913Gln) c.*2200A>C (n.*2200A>C) c.*1323A>C (n.*1323A>C) c.1710A>C c.2614A>C (p.Lys872Gln) c.2725A>C (p.Lys909Gln) c.2779A>C (p.Lys927Gln) c.9A>C c.298A>C (p.Lys100Gln) c.2668A>C (p.Lys890Gln) n.582+1736T>G c.2353A>C (p.Lys785Gln) c.2350A>C (p.Lys784Gln) n.3141A>C n.2976A>C n.600+1736T>G n.475+3624T>G | |
| 3 | g.193667184A>G | CA355797168 | OPA1 | c.2887A>G (p.Lys963Glu) c.2722A>G (p.Lys908Glu) c.2833A>G (p.Lys945Glu) c.2776A>G (p.Lys926Glu) c.2661A>G c.*947A>G (n.*947A>G) c.2404A>G (p.Lys802Glu) c.*2803A>G (n.*2803A>G) c.2309A>G c.*1206A>G (n.*1206A>G) c.2716A>G c.2737A>G (p.Lys913Glu) c.*2200A>G (n.*2200A>G) c.*1323A>G (n.*1323A>G) c.1710A>G c.2614A>G (p.Lys872Glu) c.2725A>G (p.Lys909Glu) c.2779A>G (p.Lys927Glu) c.9A>G c.298A>G (p.Lys100Glu) c.2668A>G (p.Lys890Glu) n.582+1736T>C c.2353A>G (p.Lys785Glu) c.2350A>G (p.Lys784Glu) n.3141A>G n.2976A>G n.600+1736T>C n.475+3624T>C | gnomAD v4 |
| 3 | g.193667184A>T | CA355797165 | OPA1 | c.2887A>T (p.Lys963Ter) c.2722A>T (p.Lys908Ter) c.2833A>T (p.Lys945Ter) c.2776A>T (p.Lys926Ter) c.2661A>T c.*947A>T (n.*947A>T) c.2404A>T (p.Lys802Ter) c.*2803A>T (n.*2803A>T) c.2309A>T c.*1206A>T (n.*1206A>T) c.2716A>T c.2737A>T (p.Lys913Ter) c.*2200A>T (n.*2200A>T) c.*1323A>T (n.*1323A>T) c.1710A>T c.2614A>T (p.Lys872Ter) c.2725A>T (p.Lys909Ter) c.2779A>T (p.Lys927Ter) c.9A>T c.298A>T (p.Lys100Ter) c.2668A>T (p.Lys890Ter) n.582+1736T>A c.2353A>T (p.Lys785Ter) c.2350A>T (p.Lys784Ter) n.3141A>T n.2976A>T n.600+1736T>A n.475+3624T>A | |
| 3 | g.193667188del | CA2577995329 | OPA1 | c.2891del (p.Asn964MetfsTer?) c.2726del (p.Asn909MetfsTer?) c.2837del (p.Asn946MetfsTer?) c.2780del (p.Asn927MetfsTer?) c.2665del c.*951del (n.*951del) c.2408del (p.Asn803MetfsTer?) c.*2807del (n.*2807del) c.2313del c.*1210del (n.*1210del) c.2720del c.2741del (p.Asn914MetfsTer?) c.*2204del (n.*2204del) c.*1327del (n.*1327del) c.1714del c.2618del (p.Asn873MetfsTer?) c.2729del (p.Asn910MetfsTer?) c.2783del (p.Asn928MetfsTer?) c.13del c.302del (p.Asn101MetfsTer?) c.2672del (p.Asn891MetfsTer?) n.582+1736del c.2357del (p.Asn786MetfsTer?) c.2354del (p.Asn785MetfsTer?) n.3145del n.2980del n.600+1736del n.475+3624del | gnomAD v4 |
| 3 | g.193667187_193667188del | CA2586973384 | OPA1 | c.2890_2891del (p.Asn964CysfsTer2) c.2725_2726del (p.Asn909CysfsTer2) c.2836_2837del (p.Asn946CysfsTer2) c.2779_2780del (p.Asn927CysfsTer2) c.2664_2665del c.*950_*951del (n.*950_*951del) c.2407_2408del (p.Asn803CysfsTer2) c.*2806_*2807del (n.*2806_*2807del) c.2312_2313del c.*1209_*1210del (n.*1209_*1210del) c.2719_2720del c.2740_2741del (p.Asn914CysfsTer2) c.*2203_*2204del (n.*2203_*2204del) c.*1326_*1327del (n.*1326_*1327del) c.1713_1714del c.2617_2618del (p.Asn873CysfsTer2) c.2728_2729del (p.Asn910CysfsTer2) c.2782_2783del (p.Asn928CysfsTer2) c.12_13del c.301_302del (p.Asn101CysfsTer2) c.2671_2672del (p.Asn891CysfsTer2) n.582+1735_582+1736del c.2356_2357del (p.Asn786CysfsTer2) c.2353_2354del (p.Asn785CysfsTer2) n.3144_3145del n.2979_2980del n.600+1735_600+1736del n.475+3623_475+3624del | |
| 3 | g.193667185A= | CA1430233493 | OPA1 | c.2888A= (p.Lys963=) c.2723A= (p.Lys908=) c.2834A= (p.Lys945=) c.2777A= (p.Lys926=) c.2662A= c.*948A= (n.*948A=) c.2405A= (p.Lys802=) c.*2804A= (n.*2804A=) c.2310A= c.*1207A= (n.*1207A=) c.2717A= c.2738A= (p.Lys913=) c.*2201A= (n.*2201A=) c.*1324A= (n.*1324A=) c.1711A= c.2615A= (p.Lys872=) c.2726A= (p.Lys909=) c.2780A= (p.Lys927=) c.10A= c.299A= (p.Lys100=) c.2669A= (p.Lys890=) n.582+1735T= c.2354A= (p.Lys785=) c.2351A= (p.Lys784=) n.3142A= n.2977A= n.600+1735T= n.475+3623T= | |
| 3 | g.193667185A>C | CA355797171 | OPA1 | c.2888A>C (p.Lys963Thr) c.2723A>C (p.Lys908Thr) c.2834A>C (p.Lys945Thr) c.2777A>C (p.Lys926Thr) c.2662A>C c.*948A>C (n.*948A>C) c.2405A>C (p.Lys802Thr) c.*2804A>C (n.*2804A>C) c.2310A>C c.*1207A>C (n.*1207A>C) c.2717A>C c.2738A>C (p.Lys913Thr) c.*2201A>C (n.*2201A>C) c.*1324A>C (n.*1324A>C) c.1711A>C c.2615A>C (p.Lys872Thr) c.2726A>C (p.Lys909Thr) c.2780A>C (p.Lys927Thr) c.10A>C c.299A>C (p.Lys100Thr) c.2669A>C (p.Lys890Thr) n.582+1735T>G c.2354A>C (p.Lys785Thr) c.2351A>C (p.Lys784Thr) n.3142A>C n.2977A>C n.600+1735T>G n.475+3623T>G | |
| 3 | g.193667185A>G | CA355797177 | OPA1 | c.2888A>G (p.Lys963Arg) c.2723A>G (p.Lys908Arg) c.2834A>G (p.Lys945Arg) c.2777A>G (p.Lys926Arg) c.2662A>G c.*948A>G (n.*948A>G) c.2405A>G (p.Lys802Arg) c.*2804A>G (n.*2804A>G) c.2310A>G c.*1207A>G (n.*1207A>G) c.2717A>G c.2738A>G (p.Lys913Arg) c.*2201A>G (n.*2201A>G) c.*1324A>G (n.*1324A>G) c.1711A>G c.2615A>G (p.Lys872Arg) c.2726A>G (p.Lys909Arg) c.2780A>G (p.Lys927Arg) c.10A>G c.299A>G (p.Lys100Arg) c.2669A>G (p.Lys890Arg) n.582+1735T>C c.2354A>G (p.Lys785Arg) c.2351A>G (p.Lys784Arg) n.3142A>G n.2977A>G n.600+1735T>C n.475+3623T>C | dbSNP gnomAD v4 |
| 3 | g.193667185A>T | CA355797175 | OPA1 | c.2888A>T (p.Lys963Ile) c.2723A>T (p.Lys908Ile) c.2834A>T (p.Lys945Ile) c.2777A>T (p.Lys926Ile) c.2662A>T c.*948A>T (n.*948A>T) c.2405A>T (p.Lys802Ile) c.*2804A>T (n.*2804A>T) c.2310A>T c.*1207A>T (n.*1207A>T) c.2717A>T c.2738A>T (p.Lys913Ile) c.*2201A>T (n.*2201A>T) c.*1324A>T (n.*1324A>T) c.1711A>T c.2615A>T (p.Lys872Ile) c.2726A>T (p.Lys909Ile) c.2780A>T (p.Lys927Ile) c.10A>T c.299A>T (p.Lys100Ile) c.2669A>T (p.Lys890Ile) n.582+1735T>A c.2354A>T (p.Lys785Ile) c.2351A>T (p.Lys784Ile) n.3142A>T n.2977A>T n.600+1735T>A n.475+3623T>A | |
| 3 | g.193667186A= | CA1430233497 | OPA1 | c.2889A= (p.Lys963=) c.2724A= (p.Lys908=) c.2835A= (p.Lys945=) c.2778A= (p.Lys926=) c.2663A= c.*949A= (n.*949A=) c.2406A= (p.Lys802=) c.*2805A= (n.*2805A=) c.2311A= c.*1208A= (n.*1208A=) c.2718A= c.2739A= (p.Lys913=) c.*2202A= (n.*2202A=) c.*1325A= (n.*1325A=) c.1712A= c.2616A= (p.Lys872=) c.2727A= (p.Lys909=) c.2781A= (p.Lys927=) c.11A= c.300A= (p.Lys100=) c.2670A= (p.Lys890=) n.582+1734T= c.2355A= (p.Lys785=) c.2352A= (p.Lys784=) n.3143A= n.2978A= n.600+1734T= n.475+3622T= | |
| 3 | g.193667186A>C | CA355797179 | OPA1 | c.2889A>C (p.Lys963Asn) c.2724A>C (p.Lys908Asn) c.2835A>C (p.Lys945Asn) c.2778A>C (p.Lys926Asn) c.2663A>C c.*949A>C (n.*949A>C) c.2406A>C (p.Lys802Asn) c.*2805A>C (n.*2805A>C) c.2311A>C c.*1208A>C (n.*1208A>C) c.2718A>C c.2739A>C (p.Lys913Asn) c.*2202A>C (n.*2202A>C) c.*1325A>C (n.*1325A>C) c.1712A>C c.2616A>C (p.Lys872Asn) c.2727A>C (p.Lys909Asn) c.2781A>C (p.Lys927Asn) c.11A>C c.300A>C (p.Lys100Asn) c.2670A>C (p.Lys890Asn) n.582+1734T>G c.2355A>C (p.Lys785Asn) c.2352A>C (p.Lys784Asn) n.3143A>C n.2978A>C n.600+1734T>G n.475+3622T>G | |
| 3 | g.193667186A>G | CA2759779 | OPA1 | c.2889A>G (p.Lys963=) c.2724A>G (p.Lys908=) c.2835A>G (p.Lys945=) c.2778A>G (p.Lys926=) c.2663A>G c.*949A>G (n.*949A>G) c.2406A>G (p.Lys802=) c.*2805A>G (n.*2805A>G) c.2311A>G c.*1208A>G (n.*1208A>G) c.2718A>G c.2739A>G (p.Lys913=) c.*2202A>G (n.*2202A>G) c.*1325A>G (n.*1325A>G) c.1712A>G c.2616A>G (p.Lys872=) c.2727A>G (p.Lys909=) c.2781A>G (p.Lys927=) c.11A>G c.300A>G (p.Lys100=) c.2670A>G (p.Lys890=) n.582+1734T>C c.2355A>G (p.Lys785=) c.2352A>G (p.Lys784=) n.3143A>G n.2978A>G n.600+1734T>C n.475+3622T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193667186A>T | CA355797183 | OPA1 | c.2889A>T (p.Lys963Asn) c.2724A>T (p.Lys908Asn) c.2835A>T (p.Lys945Asn) c.2778A>T (p.Lys926Asn) c.2663A>T c.*949A>T (n.*949A>T) c.2406A>T (p.Lys802Asn) c.*2805A>T (n.*2805A>T) c.2311A>T c.*1208A>T (n.*1208A>T) c.2718A>T c.2739A>T (p.Lys913Asn) c.*2202A>T (n.*2202A>T) c.*1325A>T (n.*1325A>T) c.1712A>T c.2616A>T (p.Lys872Asn) c.2727A>T (p.Lys909Asn) c.2781A>T (p.Lys927Asn) c.11A>T c.300A>T (p.Lys100Asn) c.2670A>T (p.Lys890Asn) n.582+1734T>A c.2355A>T (p.Lys785Asn) c.2352A>T (p.Lys784Asn) n.3143A>T n.2978A>T n.600+1734T>A n.475+3622T>A | |
| 3 | g.193667187A= | CA1430233505 | OPA1 | c.2890A= (p.Asn964=) c.2725A= (p.Asn909=) c.2836A= (p.Asn946=) c.2779A= (p.Asn927=) c.2664A= c.*950A= (n.*950A=) c.2407A= (p.Asn803=) c.*2806A= (n.*2806A=) c.2312A= c.*1209A= (n.*1209A=) c.2719A= c.2740A= (p.Asn914=) c.*2203A= (n.*2203A=) c.*1326A= (n.*1326A=) c.1713A= c.2617A= (p.Asn873=) c.2728A= (p.Asn910=) c.2782A= (p.Asn928=) c.12A= c.301A= (p.Asn101=) c.2671A= (p.Asn891=) n.582+1733T= c.2356A= (p.Asn786=) c.2353A= (p.Asn785=) n.3144A= n.2979A= n.600+1733T= n.475+3621T= | |
| 3 | g.193667187A>C | CA355797189 | OPA1 | c.2890A>C (p.Asn964His) c.2725A>C (p.Asn909His) c.2836A>C (p.Asn946His) c.2779A>C (p.Asn927His) c.2664A>C c.*950A>C (n.*950A>C) c.2407A>C (p.Asn803His) c.*2806A>C (n.*2806A>C) c.2312A>C c.*1209A>C (n.*1209A>C) c.2719A>C c.2740A>C (p.Asn914His) c.*2203A>C (n.*2203A>C) c.*1326A>C (n.*1326A>C) c.1713A>C c.2617A>C (p.Asn873His) c.2728A>C (p.Asn910His) c.2782A>C (p.Asn928His) c.12A>C c.301A>C (p.Asn101His) c.2671A>C (p.Asn891His) n.582+1733T>G c.2356A>C (p.Asn786His) c.2353A>C (p.Asn785His) n.3144A>C n.2979A>C n.600+1733T>G n.475+3621T>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.193667187A>G | CA355797191 | OPA1 | c.2890A>G (p.Asn964Asp) c.2725A>G (p.Asn909Asp) c.2836A>G (p.Asn946Asp) c.2779A>G (p.Asn927Asp) c.2664A>G c.*950A>G (n.*950A>G) c.2407A>G (p.Asn803Asp) c.*2806A>G (n.*2806A>G) c.2312A>G c.*1209A>G (n.*1209A>G) c.2719A>G c.2740A>G (p.Asn914Asp) c.*2203A>G (n.*2203A>G) c.*1326A>G (n.*1326A>G) c.1713A>G c.2617A>G (p.Asn873Asp) c.2728A>G (p.Asn910Asp) c.2782A>G (p.Asn928Asp) c.12A>G c.301A>G (p.Asn101Asp) c.2671A>G (p.Asn891Asp) n.582+1733T>C c.2356A>G (p.Asn786Asp) c.2353A>G (p.Asn785Asp) n.3144A>G n.2979A>G n.600+1733T>C n.475+3621T>C | |
| 3 | g.193667187A>T | CA355797190 | OPA1 | c.2890A>T (p.Asn964Tyr) c.2725A>T (p.Asn909Tyr) c.2836A>T (p.Asn946Tyr) c.2779A>T (p.Asn927Tyr) c.2664A>T c.*950A>T (n.*950A>T) c.2407A>T (p.Asn803Tyr) c.*2806A>T (n.*2806A>T) c.2312A>T c.*1209A>T (n.*1209A>T) c.2719A>T c.2740A>T (p.Asn914Tyr) c.*2203A>T (n.*2203A>T) c.*1326A>T (n.*1326A>T) c.1713A>T c.2617A>T (p.Asn873Tyr) c.2728A>T (p.Asn910Tyr) c.2782A>T (p.Asn928Tyr) c.12A>T c.301A>T (p.Asn101Tyr) c.2671A>T (p.Asn891Tyr) n.582+1733T>A c.2356A>T (p.Asn786Tyr) c.2353A>T (p.Asn785Tyr) n.3144A>T n.2979A>T n.600+1733T>A n.475+3621T>A | |
| 3 | g.193667187_193667188insTTA | CA2573320600 | OPA1 | c.2890_2891insTTA (p.Lys963_Asn964insIle) c.2725_2726insTTA (p.Lys908_Asn909insIle) c.2836_2837insTTA (p.Lys945_Asn946insIle) c.2779_2780insTTA (p.Lys926_Asn927insIle) c.2664_2665insTTA c.*950_*951insTTA (n.*950_*951insTTA) c.2407_2408insTTA (p.Lys802_Asn803insIle) c.*2806_*2807insTTA (n.*2806_*2807insTTA) c.2312_2313insTTA c.*1209_*1210insTTA (n.*1209_*1210insTTA) c.2719_2720insTTA c.2740_2741insTTA (p.Lys913_Asn914insIle) c.*2203_*2204insTTA (n.*2203_*2204insTTA) c.*1326_*1327insTTA (n.*1326_*1327insTTA) c.1713_1714insTTA c.2617_2618insTTA (p.Lys872_Asn873insIle) c.2728_2729insTTA (p.Lys909_Asn910insIle) c.2782_2783insTTA (p.Lys927_Asn928insIle) c.12_13insTTA c.301_302insTTA (p.Lys100_Asn101insIle) c.2671_2672insTTA (p.Lys890_Asn891insIle) n.582+1733_582+1734insAAT c.2356_2357insTTA (p.Lys785_Asn786insIle) c.2353_2354insTTA (p.Lys784_Asn785insIle) n.3144_3145insTTA n.2979_2980insTTA n.600+1733_600+1734insAAT n.475+3621_475+3622insAAT | gnomAD v4 |
| 3 | g.193667187_193667192delinsAATGTT | CA1430233503 | OPA1 | c.2890_2895delinsAATGTT (p.Asn964=) c.2725_2730delinsAATGTT (p.Asn909=) c.2836_2841delinsAATGTT (p.Asn946=) c.2779_2784delinsAATGTT (p.Asn927=) c.2664_2669delinsAATGTT c.*950_*955delinsAATGTT (n.*950_*955delinsAATGTT) c.2407_2412delinsAATGTT (p.Asn803=) c.*2806_*2811delinsAATGTT (n.*2806_*2811delinsAATGTT) c.2312_2317delinsAATGTT c.*1209_*1214delinsAATGTT (n.*1209_*1214delinsAATGTT) c.2719_2724delinsAATGTT c.2740_2745delinsAATGTT (p.Asn914=) c.*2203_*2208delinsAATGTT (n.*2203_*2208delinsAATGTT) c.*1326_*1331delinsAATGTT (n.*1326_*1331delinsAATGTT) c.1713_1718delinsAATGTT c.2617_2622delinsAATGTT (p.Asn873=) c.2728_2733delinsAATGTT (p.Asn910=) c.2782_2787delinsAATGTT (p.Asn928=) c.12_17delinsAATGTT c.301_306delinsAATGTT (p.Asn101=) c.2671_2676delinsAATGTT (p.Asn891=) n.582+1728_582+1733delinsAACATT c.2356_2361delinsAATGTT (p.Asn786=) c.2353_2358delinsAATGTT (p.Asn785=) n.3144_3149delinsAATGTT n.2979_2984delinsAATGTT n.600+1728_600+1733delinsAACATT n.475+3616_475+3621delinsAACATT | |
| 3 | g.193667188A>C | CA355797193 | OPA1 | c.2891A>C (p.Asn964Thr) c.2726A>C (p.Asn909Thr) c.2837A>C (p.Asn946Thr) c.2780A>C (p.Asn927Thr) c.2665A>C c.*951A>C (n.*951A>C) c.2408A>C (p.Asn803Thr) c.*2807A>C (n.*2807A>C) c.2313A>C c.*1210A>C (n.*1210A>C) c.2720A>C c.2741A>C (p.Asn914Thr) c.*2204A>C (n.*2204A>C) c.*1327A>C (n.*1327A>C) c.1714A>C c.2618A>C (p.Asn873Thr) c.2729A>C (p.Asn910Thr) c.2783A>C (p.Asn928Thr) c.13A>C c.302A>C (p.Asn101Thr) c.2672A>C (p.Asn891Thr) n.582+1732T>G c.2357A>C (p.Asn786Thr) c.2354A>C (p.Asn785Thr) n.3145A>C n.2980A>C n.600+1732T>G n.475+3620T>G | |
| 3 | g.193667188A>G | CA355797195 | OPA1 | c.2891A>G (p.Asn964Ser) c.2726A>G (p.Asn909Ser) c.2837A>G (p.Asn946Ser) c.2780A>G (p.Asn927Ser) c.2665A>G c.*951A>G (n.*951A>G) c.2408A>G (p.Asn803Ser) c.*2807A>G (n.*2807A>G) c.2313A>G c.*1210A>G (n.*1210A>G) c.2720A>G c.2741A>G (p.Asn914Ser) c.*2204A>G (n.*2204A>G) c.*1327A>G (n.*1327A>G) c.1714A>G c.2618A>G (p.Asn873Ser) c.2729A>G (p.Asn910Ser) c.2783A>G (p.Asn928Ser) c.13A>G c.302A>G (p.Asn101Ser) c.2672A>G (p.Asn891Ser) n.582+1732T>C c.2357A>G (p.Asn786Ser) c.2354A>G (p.Asn785Ser) n.3145A>G n.2980A>G n.600+1732T>C n.475+3620T>C | |
| 3 | g.193667188A>T | CA355797197 | OPA1 | c.2891A>T (p.Asn964Ile) c.2726A>T (p.Asn909Ile) c.2837A>T (p.Asn946Ile) c.2780A>T (p.Asn927Ile) c.2665A>T c.*951A>T (n.*951A>T) c.2408A>T (p.Asn803Ile) c.*2807A>T (n.*2807A>T) c.2313A>T c.*1210A>T (n.*1210A>T) c.2720A>T c.2741A>T (p.Asn914Ile) c.*2204A>T (n.*2204A>T) c.*1327A>T (n.*1327A>T) c.1714A>T c.2618A>T (p.Asn873Ile) c.2729A>T (p.Asn910Ile) c.2783A>T (p.Asn928Ile) c.13A>T c.302A>T (p.Asn101Ile) c.2672A>T (p.Asn891Ile) n.582+1732T>A c.2357A>T (p.Asn786Ile) c.2354A>T (p.Asn785Ile) n.3145A>T n.2980A>T n.600+1732T>A n.475+3620T>A | |
| 3 | g.193667189_193667193del | CA658657367 | OPA1 | c.2892_2896del (p.Asn964LysfsTer9) c.2727_2731del (p.Asn909LysfsTer9) c.2838_2842del (p.Asn946LysfsTer9) c.2781_2785del (p.Asn927LysfsTer9) c.2666_2670del c.*952_*956del (n.*952_*956del) c.2409_2413del (p.Asn803LysfsTer9) c.*2808_*2812del (n.*2808_*2812del) c.2314_2318del c.*1211_*1215del (n.*1211_*1215del) c.2721_2725del c.2742_2746del (p.Asn914LysfsTer9) c.*2205_*2209del (n.*2205_*2209del) c.*1328_*1332del (n.*1328_*1332del) c.1715_1719del c.2619_2623del (p.Asn873LysfsTer9) c.2730_2734del (p.Asn910LysfsTer9) c.2784_2788del (p.Asn928LysfsTer9) c.14_18del c.303_307del (p.Asn101LysfsTer9) c.2673_2677del (p.Asn891LysfsTer9) n.582+1728_582+1732del c.2358_2362del (p.Asn786LysfsTer9) c.2355_2359del (p.Asn785LysfsTer9) n.3146_3150del n.2981_2985del n.600+1728_600+1732del n.475+3616_475+3620del | ClinVar dbSNP |
| 3 | g.193667189T>A | CA355797199 | OPA1 | c.2892T>A (p.Asn964Lys) c.2727T>A (p.Asn909Lys) c.2838T>A (p.Asn946Lys) c.2781T>A (p.Asn927Lys) c.2666T>A c.*952T>A (n.*952T>A) c.2409T>A (p.Asn803Lys) c.*2808T>A (n.*2808T>A) c.2314T>A c.*1211T>A (n.*1211T>A) c.2721T>A c.2742T>A (p.Asn914Lys) c.*2205T>A (n.*2205T>A) c.*1328T>A (n.*1328T>A) c.1715T>A c.2619T>A (p.Asn873Lys) c.2730T>A (p.Asn910Lys) c.2784T>A (p.Asn928Lys) c.14T>A c.303T>A (p.Asn101Lys) c.2673T>A (p.Asn891Lys) n.582+1731A>T c.2358T>A (p.Asn786Lys) c.2355T>A (p.Asn785Lys) n.3146T>A n.2981T>A n.600+1731A>T n.475+3619A>T | |
| 3 | g.193667189T>C | CA437441954 | OPA1 | c.2892T>C (p.Asn964=) c.2727T>C (p.Asn909=) c.2838T>C (p.Asn946=) c.2781T>C (p.Asn927=) c.2666T>C c.*952T>C (n.*952T>C) c.2409T>C (p.Asn803=) c.*2808T>C (n.*2808T>C) c.2314T>C c.*1211T>C (n.*1211T>C) c.2721T>C c.2742T>C (p.Asn914=) c.*2205T>C (n.*2205T>C) c.*1328T>C (n.*1328T>C) c.1715T>C c.2619T>C (p.Asn873=) c.2730T>C (p.Asn910=) c.2784T>C (p.Asn928=) c.14T>C c.303T>C (p.Asn101=) c.2673T>C (p.Asn891=) n.582+1731A>G c.2358T>C (p.Asn786=) c.2355T>C (p.Asn785=) n.3146T>C n.2981T>C n.600+1731A>G n.475+3619A>G | |
| 3 | g.193667189T>G | CA355797201 | OPA1 | c.2892T>G (p.Asn964Lys) c.2727T>G (p.Asn909Lys) c.2838T>G (p.Asn946Lys) c.2781T>G (p.Asn927Lys) c.2666T>G c.*952T>G (n.*952T>G) c.2409T>G (p.Asn803Lys) c.*2808T>G (n.*2808T>G) c.2314T>G c.*1211T>G (n.*1211T>G) c.2721T>G c.2742T>G (p.Asn914Lys) c.*2205T>G (n.*2205T>G) c.*1328T>G (n.*1328T>G) c.1715T>G c.2619T>G (p.Asn873Lys) c.2730T>G (p.Asn910Lys) c.2784T>G (p.Asn928Lys) c.14T>G c.303T>G (p.Asn101Lys) c.2673T>G (p.Asn891Lys) n.582+1731A>C c.2358T>G (p.Asn786Lys) c.2355T>G (p.Asn785Lys) n.3146T>G n.2981T>G n.600+1731A>C n.475+3619A>C | |
| 3 | g.193667190_193667191del | CA2759951421 | OPA1 | c.2893_2894del (p.Val965Ter) c.2728_2729del (p.Val910Ter) c.2839_2840del (p.Val947Ter) c.2782_2783del (p.Val928Ter) c.2667_2668del c.*953_*954del (n.*953_*954del) c.2410_2411del (p.Val804Ter) c.*2809_*2810del (n.*2809_*2810del) c.2315_2316del c.*1212_*1213del (n.*1212_*1213del) c.2722_2723del c.2743_2744del (p.Val915Ter) c.*2206_*2207del (n.*2206_*2207del) c.*1329_*1330del (n.*1329_*1330del) c.1716_1717del c.2620_2621del (p.Val874Ter) c.2731_2732del (p.Val911Ter) c.2785_2786del (p.Val929Ter) c.15_16del c.304_305del (p.Val102Ter) c.2674_2675del (p.Val892Ter) n.582+1730_582+1731del c.2359_2360del (p.Val787Ter) c.2356_2357del (p.Val786Ter) n.3147_3148del n.2982_2983del n.600+1730_600+1731del n.475+3618_475+3619del | |
| 3 | g.193667190_193667192del | CA2586973386 | OPA1 | c.2893_2895del (p.Val965del) c.2728_2730del (p.Val910del) c.2839_2841del (p.Val947del) c.2782_2784del (p.Val928del) c.2667_2669del c.*953_*955del (n.*953_*955del) c.2410_2412del (p.Val804del) c.*2809_*2811del (n.*2809_*2811del) c.2315_2317del c.*1212_*1214del (n.*1212_*1214del) c.2722_2724del c.2743_2745del (p.Val915del) c.*2206_*2208del (n.*2206_*2208del) c.*1329_*1331del (n.*1329_*1331del) c.1716_1718del c.2620_2622del (p.Val874del) c.2731_2733del (p.Val911del) c.2785_2787del (p.Val929del) c.15_17del c.304_306del (p.Val102del) c.2674_2676del (p.Val892del) n.582+1729_582+1731del c.2359_2361del (p.Val787del) c.2356_2358del (p.Val786del) n.3147_3149del n.2982_2984del n.600+1729_600+1731del n.475+3617_475+3619del | |
| 3 | g.193667190G>A | CA355797204 | OPA1 | c.2893G>A (p.Val965Ile) c.2728G>A (p.Val910Ile) c.2839G>A (p.Val947Ile) c.2782G>A (p.Val928Ile) c.2667G>A c.*953G>A (n.*953G>A) c.2410G>A (p.Val804Ile) c.*2809G>A (n.*2809G>A) c.2315G>A c.*1212G>A (n.*1212G>A) c.2722G>A c.2743G>A (p.Val915Ile) c.*2206G>A (n.*2206G>A) c.*1329G>A (n.*1329G>A) c.1716G>A c.2620G>A (p.Val874Ile) c.2731G>A (p.Val911Ile) c.2785G>A (p.Val929Ile) c.15G>A c.304G>A (p.Val102Ile) c.2674G>A (p.Val892Ile) n.582+1730C>T c.2359G>A (p.Val787Ile) c.2356G>A (p.Val786Ile) n.3147G>A n.2982G>A n.600+1730C>T n.475+3618C>T | dbSNP gnomAD v4 |
| 3 | g.193667190G>C | CA355797206 | OPA1 | c.2893G>C (p.Val965Leu) c.2728G>C (p.Val910Leu) c.2839G>C (p.Val947Leu) c.2782G>C (p.Val928Leu) c.2667G>C c.*953G>C (n.*953G>C) c.2410G>C (p.Val804Leu) c.*2809G>C (n.*2809G>C) c.2315G>C c.*1212G>C (n.*1212G>C) c.2722G>C c.2743G>C (p.Val915Leu) c.*2206G>C (n.*2206G>C) c.*1329G>C (n.*1329G>C) c.1716G>C c.2620G>C (p.Val874Leu) c.2731G>C (p.Val911Leu) c.2785G>C (p.Val929Leu) c.15G>C c.304G>C (p.Val102Leu) c.2674G>C (p.Val892Leu) n.582+1730C>G c.2359G>C (p.Val787Leu) c.2356G>C (p.Val786Leu) n.3147G>C n.2982G>C n.600+1730C>G n.475+3618C>G | |
| 3 | g.193667190G= | CA1430233519 | OPA1 | c.2893G= (p.Val965=) c.2728G= (p.Val910=) c.2839G= (p.Val947=) c.2782G= (p.Val928=) c.2667G= c.*953G= (n.*953G=) c.2410G= (p.Val804=) c.*2809G= (n.*2809G=) c.2315G= c.*1212G= (n.*1212G=) c.2722G= c.2743G= (p.Val915=) c.*2206G= (n.*2206G=) c.*1329G= (n.*1329G=) c.1716G= c.2620G= (p.Val874=) c.2731G= (p.Val911=) c.2785G= (p.Val929=) c.15G= c.304G= (p.Val102=) c.2674G= (p.Val892=) n.582+1730C= c.2359G= (p.Val787=) c.2356G= (p.Val786=) n.3147G= n.2982G= n.600+1730C= n.475+3618C= | |
| 3 | g.193667190G>T | CA355797209 | OPA1 | c.2893G>T (p.Val965Phe) c.2728G>T (p.Val910Phe) c.2839G>T (p.Val947Phe) c.2782G>T (p.Val928Phe) c.2667G>T c.*953G>T (n.*953G>T) c.2410G>T (p.Val804Phe) c.*2809G>T (n.*2809G>T) c.2315G>T c.*1212G>T (n.*1212G>T) c.2722G>T c.2743G>T (p.Val915Phe) c.*2206G>T (n.*2206G>T) c.*1329G>T (n.*1329G>T) c.1716G>T c.2620G>T (p.Val874Phe) c.2731G>T (p.Val911Phe) c.2785G>T (p.Val929Phe) c.15G>T c.304G>T (p.Val102Phe) c.2674G>T (p.Val892Phe) n.582+1730C>A c.2359G>T (p.Val787Phe) c.2356G>T (p.Val786Phe) n.3147G>T n.2982G>T n.600+1730C>A n.475+3618C>A | |
| 3 | g.193667191T>A | CA129235 | OPA1 | c.2894T>A (p.Val965Asp) c.2729T>A (p.Val910Asp) c.2840T>A (p.Val947Asp) c.2783T>A (p.Val928Asp) c.2668T>A c.*954T>A (n.*954T>A) c.2411T>A (p.Val804Asp) c.*2810T>A (n.*2810T>A) c.2316T>A c.*1213T>A (n.*1213T>A) c.2723T>A c.2744T>A (p.Val915Asp) c.*2207T>A (n.*2207T>A) c.*1330T>A (n.*1330T>A) c.1717T>A c.2621T>A (p.Val874Asp) c.2732T>A (p.Val911Asp) c.2786T>A (p.Val929Asp) c.16T>A c.305T>A (p.Val102Asp) c.2675T>A (p.Val892Asp) n.582+1729A>T c.2360T>A (p.Val787Asp) c.2357T>A (p.Val786Asp) n.3148T>A n.2983T>A n.600+1729A>T n.475+3617A>T | ClinVar dbSNP |
| 3 | g.193667191T>C | CA355797210 | OPA1 | c.2894T>C (p.Val965Ala) c.2729T>C (p.Val910Ala) c.2840T>C (p.Val947Ala) c.2783T>C (p.Val928Ala) c.2668T>C c.*954T>C (n.*954T>C) c.2411T>C (p.Val804Ala) c.*2810T>C (n.*2810T>C) c.2316T>C c.*1213T>C (n.*1213T>C) c.2723T>C c.2744T>C (p.Val915Ala) c.*2207T>C (n.*2207T>C) c.*1330T>C (n.*1330T>C) c.1717T>C c.2621T>C (p.Val874Ala) c.2732T>C (p.Val911Ala) c.2786T>C (p.Val929Ala) c.16T>C c.305T>C (p.Val102Ala) c.2675T>C (p.Val892Ala) n.582+1729A>G c.2360T>C (p.Val787Ala) c.2357T>C (p.Val786Ala) n.3148T>C n.2983T>C n.600+1729A>G n.475+3617A>G | |
| 3 | g.193667191T>G | CA355797211 | OPA1 | c.2894T>G (p.Val965Gly) c.2729T>G (p.Val910Gly) c.2840T>G (p.Val947Gly) c.2783T>G (p.Val928Gly) c.2668T>G c.*954T>G (n.*954T>G) c.2411T>G (p.Val804Gly) c.*2810T>G (n.*2810T>G) c.2316T>G c.*1213T>G (n.*1213T>G) c.2723T>G c.2744T>G (p.Val915Gly) c.*2207T>G (n.*2207T>G) c.*1330T>G (n.*1330T>G) c.1717T>G c.2621T>G (p.Val874Gly) c.2732T>G (p.Val911Gly) c.2786T>G (p.Val929Gly) c.16T>G c.305T>G (p.Val102Gly) c.2675T>G (p.Val892Gly) n.582+1729A>C c.2360T>G (p.Val787Gly) c.2357T>G (p.Val786Gly) n.3148T>G n.2983T>G n.600+1729A>C n.475+3617A>C | |
| 3 | g.193667191T= | CA1430233521 | OPA1 | c.2894T= (p.Val965=) c.2729T= (p.Val910=) c.2840T= (p.Val947=) c.2783T= (p.Val928=) c.2668T= c.*954T= (n.*954T=) c.2411T= (p.Val804=) c.*2810T= (n.*2810T=) c.2316T= c.*1213T= (n.*1213T=) c.2723T= c.2744T= (p.Val915=) c.*2207T= (n.*2207T=) c.*1330T= (n.*1330T=) c.1717T= c.2621T= (p.Val874=) c.2732T= (p.Val911=) c.2786T= (p.Val929=) c.16T= c.305T= (p.Val102=) c.2675T= (p.Val892=) n.582+1729A= c.2360T= (p.Val787=) c.2357T= (p.Val786=) n.3148T= n.2983T= n.600+1729A= n.475+3617A= | |
| 3 | g.193667192T>A | CA437441956 | OPA1 | c.2895T>A (p.Val965=) c.2730T>A (p.Val910=) c.2841T>A (p.Val947=) c.2784T>A (p.Val928=) c.2669T>A c.*955T>A (n.*955T>A) c.2412T>A (p.Val804=) c.*2811T>A (n.*2811T>A) c.2317T>A c.*1214T>A (n.*1214T>A) c.2724T>A c.2745T>A (p.Val915=) c.*2208T>A (n.*2208T>A) c.*1331T>A (n.*1331T>A) c.1718T>A c.2622T>A (p.Val874=) c.2733T>A (p.Val911=) c.2787T>A (p.Val929=) c.17T>A c.306T>A (p.Val102=) c.2676T>A (p.Val892=) n.582+1728A>T c.2361T>A (p.Val787=) c.2358T>A (p.Val786=) n.3149T>A n.2984T>A n.600+1728A>T n.475+3616A>T | |
| 3 | g.193667192T>C | CA437441957 | OPA1 | c.2895T>C (p.Val965=) c.2730T>C (p.Val910=) c.2841T>C (p.Val947=) c.2784T>C (p.Val928=) c.2669T>C c.*955T>C (n.*955T>C) c.2412T>C (p.Val804=) c.*2811T>C (n.*2811T>C) c.2317T>C c.*1214T>C (n.*1214T>C) c.2724T>C c.2745T>C (p.Val915=) c.*2208T>C (n.*2208T>C) c.*1331T>C (n.*1331T>C) c.1718T>C c.2622T>C (p.Val874=) c.2733T>C (p.Val911=) c.2787T>C (p.Val929=) c.17T>C c.306T>C (p.Val102=) c.2676T>C (p.Val892=) n.582+1728A>G c.2361T>C (p.Val787=) c.2358T>C (p.Val786=) n.3149T>C n.2984T>C n.600+1728A>G n.475+3616A>G | |
| 3 | g.193667192T>G | CA437441955 | OPA1 | c.2895T>G (p.Val965=) c.2730T>G (p.Val910=) c.2841T>G (p.Val947=) c.2784T>G (p.Val928=) c.2669T>G c.*955T>G (n.*955T>G) c.2412T>G (p.Val804=) c.*2811T>G (n.*2811T>G) c.2317T>G c.*1214T>G (n.*1214T>G) c.2724T>G c.2745T>G (p.Val915=) c.*2208T>G (n.*2208T>G) c.*1331T>G (n.*1331T>G) c.1718T>G c.2622T>G (p.Val874=) c.2733T>G (p.Val911=) c.2787T>G (p.Val929=) c.17T>G c.306T>G (p.Val102=) c.2676T>G (p.Val892=) n.582+1728A>C c.2361T>G (p.Val787=) c.2358T>G (p.Val786=) n.3149T>G n.2984T>G n.600+1728A>C n.475+3616A>C | |
| 3 | g.193667192_193667194delinsTAA | CA1430233526 | OPA1 | c.2895_2897delinsTAA (p.Val965=) c.2730_2732delinsTAA (p.Val910=) c.2841_2843delinsTAA (p.Val947=) c.2784_2786delinsTAA (p.Val928=) c.2669_2671delinsTAA c.*955_*957delinsTAA (n.*955_*957delinsTAA) c.2412_2414delinsTAA (p.Val804=) c.*2811_*2813delinsTAA (n.*2811_*2813delinsTAA) c.2317_2319delinsTAA c.*1214_*1216delinsTAA (n.*1214_*1216delinsTAA) c.2724_2726delinsTAA c.2745_2747delinsTAA (p.Val915=) c.*2208_*2210delinsTAA (n.*2208_*2210delinsTAA) c.*1331_*1333delinsTAA (n.*1331_*1333delinsTAA) c.1718_1720delinsTAA c.2622_2624delinsTAA (p.Val874=) c.2733_2735delinsTAA (p.Val911=) c.2787_2789delinsTAA (p.Val929=) c.17_19delinsTAA c.306_308delinsTAA (p.Val102=) c.2676_2678delinsTAA (p.Val892=) n.582+1726_582+1728delinsTTA c.2361_2363delinsTAA (p.Val787=) c.2358_2360delinsTAA (p.Val786=) n.3149_3151delinsTAA n.2984_2986delinsTAA n.600+1726_600+1728delinsTTA n.475+3614_475+3616delinsTTA | |
| 3 | g.193667193A>C | CA355797216 | OPA1 | c.2896A>C (p.Lys966Gln) c.2731A>C (p.Lys911Gln) c.2842A>C (p.Lys948Gln) c.2785A>C (p.Lys929Gln) c.2670A>C c.*956A>C (n.*956A>C) c.2413A>C (p.Lys805Gln) c.*2812A>C (n.*2812A>C) c.2318A>C c.*1215A>C (n.*1215A>C) c.2725A>C c.2746A>C (p.Lys916Gln) c.*2209A>C (n.*2209A>C) c.*1332A>C (n.*1332A>C) c.1719A>C c.2623A>C (p.Lys875Gln) c.2734A>C (p.Lys912Gln) c.2788A>C (p.Lys930Gln) c.18A>C c.307A>C (p.Lys103Gln) c.2677A>C (p.Lys893Gln) n.582+1727T>G c.2362A>C (p.Lys788Gln) c.2359A>C (p.Lys787Gln) n.3150A>C n.2985A>C n.600+1727T>G n.475+3615T>G | |
| 3 | g.193667193A>G | CA355797215 | OPA1 | c.2896A>G (p.Lys966Glu) c.2731A>G (p.Lys911Glu) c.2842A>G (p.Lys948Glu) c.2785A>G (p.Lys929Glu) c.2670A>G c.*956A>G (n.*956A>G) c.2413A>G (p.Lys805Glu) c.*2812A>G (n.*2812A>G) c.2318A>G c.*1215A>G (n.*1215A>G) c.2725A>G c.2746A>G (p.Lys916Glu) c.*2209A>G (n.*2209A>G) c.*1332A>G (n.*1332A>G) c.1719A>G c.2623A>G (p.Lys875Glu) c.2734A>G (p.Lys912Glu) c.2788A>G (p.Lys930Glu) c.18A>G c.307A>G (p.Lys103Glu) c.2677A>G (p.Lys893Glu) n.582+1727T>C c.2362A>G (p.Lys788Glu) c.2359A>G (p.Lys787Glu) n.3150A>G n.2985A>G n.600+1727T>C n.475+3615T>C | |
| 3 | g.193667193A>T | CA355797213 | OPA1 | c.2896A>T (p.Lys966Ter) c.2731A>T (p.Lys911Ter) c.2842A>T (p.Lys948Ter) c.2785A>T (p.Lys929Ter) c.2670A>T c.*956A>T (n.*956A>T) c.2413A>T (p.Lys805Ter) c.*2812A>T (n.*2812A>T) c.2318A>T c.*1215A>T (n.*1215A>T) c.2725A>T c.2746A>T (p.Lys916Ter) c.*2209A>T (n.*2209A>T) c.*1332A>T (n.*1332A>T) c.1719A>T c.2623A>T (p.Lys875Ter) c.2734A>T (p.Lys912Ter) c.2788A>T (p.Lys930Ter) c.18A>T c.307A>T (p.Lys103Ter) c.2677A>T (p.Lys893Ter) n.582+1727T>A c.2362A>T (p.Lys788Ter) c.2359A>T (p.Lys787Ter) n.3150A>T n.2985A>T n.600+1727T>A n.475+3615T>A | gnomAD v4 |
| 3 | g.193667195del | CA2669104824 | OPA1 | c.2898del (p.Glu967ArgfsTer?) c.2733del (p.Glu912ArgfsTer?) c.2844del (p.Glu949ArgfsTer?) c.2787del (p.Glu930ArgfsTer?) c.2672del c.*958del (n.*958del) c.2415del (p.Glu806ArgfsTer?) c.*2814del (n.*2814del) c.2320del c.*1217del (n.*1217del) c.2727del c.2748del (p.Glu917ArgfsTer?) c.*2211del (n.*2211del) c.*1334del (n.*1334del) c.1721del c.2625del (p.Glu876ArgfsTer?) c.2736del (p.Glu913ArgfsTer?) c.2790del (p.Glu931ArgfsTer?) c.20del c.309del (p.Glu104ArgfsTer?) c.2679del (p.Glu894ArgfsTer?) c.2898del (p.Glu967ArgfsTer29) c.2844del (p.Glu949ArgfsTer29) c.2787del (p.Glu930ArgfsTer29) c.2736del (p.Glu913ArgfsTer29) c.2733del (p.Glu912ArgfsTer29) c.2625del (p.Glu876ArgfsTer29) n.582+1727del c.2364del (p.Glu789ArgfsTer?) c.2361del (p.Glu788ArgfsTer?) n.3152del n.2987del n.600+1727del n.475+3615del | gnomAD v4 |
| 3 | g.193667194_193667195del | CA1430233527 | OPA1 | c.2897_2898del (p.Lys966ArgfsTer8) c.2732_2733del (p.Lys911ArgfsTer8) c.2843_2844del (p.Lys948ArgfsTer8) c.2786_2787del (p.Lys929ArgfsTer8) c.2671_2672del c.*957_*958del (n.*957_*958del) c.2414_2415del (p.Lys805ArgfsTer8) c.*2813_*2814del (n.*2813_*2814del) c.2319_2320del c.*1216_*1217del (n.*1216_*1217del) c.2726_2727del c.2747_2748del (p.Lys916ArgfsTer8) c.*2210_*2211del (n.*2210_*2211del) c.*1333_*1334del (n.*1333_*1334del) c.1720_1721del c.2624_2625del (p.Lys875ArgfsTer8) c.2735_2736del (p.Lys912ArgfsTer8) c.2789_2790del (p.Lys930ArgfsTer8) c.19_20del c.308_309del (p.Lys103ArgfsTer8) c.2678_2679del (p.Lys893ArgfsTer8) n.582+1726_582+1727del c.2363_2364del (p.Lys788ArgfsTer8) c.2360_2361del (p.Lys787ArgfsTer8) n.3151_3152del n.2986_2987del n.600+1726_600+1727del n.475+3614_475+3615del | dbSNP |
| 3 | g.193667194A>C | CA355797217 | OPA1 | c.2897A>C (p.Lys966Thr) c.2732A>C (p.Lys911Thr) c.2843A>C (p.Lys948Thr) c.2786A>C (p.Lys929Thr) c.2671A>C c.*957A>C (n.*957A>C) c.2414A>C (p.Lys805Thr) c.*2813A>C (n.*2813A>C) c.2319A>C c.*1216A>C (n.*1216A>C) c.2726A>C c.2747A>C (p.Lys916Thr) c.*2210A>C (n.*2210A>C) c.*1333A>C (n.*1333A>C) c.1720A>C c.2624A>C (p.Lys875Thr) c.2735A>C (p.Lys912Thr) c.2789A>C (p.Lys930Thr) c.19A>C c.308A>C (p.Lys103Thr) c.2678A>C (p.Lys893Thr) n.582+1726T>G c.2363A>C (p.Lys788Thr) c.2360A>C (p.Lys787Thr) n.3151A>C n.2986A>C n.600+1726T>G n.475+3614T>G | |
| 3 | g.193667194A>G | CA355797222 | OPA1 | c.2897A>G (p.Lys966Arg) c.2732A>G (p.Lys911Arg) c.2843A>G (p.Lys948Arg) c.2786A>G (p.Lys929Arg) c.2671A>G c.*957A>G (n.*957A>G) c.2414A>G (p.Lys805Arg) c.*2813A>G (n.*2813A>G) c.2319A>G c.*1216A>G (n.*1216A>G) c.2726A>G c.2747A>G (p.Lys916Arg) c.*2210A>G (n.*2210A>G) c.*1333A>G (n.*1333A>G) c.1720A>G c.2624A>G (p.Lys875Arg) c.2735A>G (p.Lys912Arg) c.2789A>G (p.Lys930Arg) c.19A>G c.308A>G (p.Lys103Arg) c.2678A>G (p.Lys893Arg) n.582+1726T>C c.2363A>G (p.Lys788Arg) c.2360A>G (p.Lys787Arg) n.3151A>G n.2986A>G n.600+1726T>C n.475+3614T>C | |
| 3 | g.193667194A>T | CA355797224 | OPA1 | c.2897A>T (p.Lys966Ile) c.2732A>T (p.Lys911Ile) c.2843A>T (p.Lys948Ile) c.2786A>T (p.Lys929Ile) c.2671A>T c.*957A>T (n.*957A>T) c.2414A>T (p.Lys805Ile) c.*2813A>T (n.*2813A>T) c.2319A>T c.*1216A>T (n.*1216A>T) c.2726A>T c.2747A>T (p.Lys916Ile) c.*2210A>T (n.*2210A>T) c.*1333A>T (n.*1333A>T) c.1720A>T c.2624A>T (p.Lys875Ile) c.2735A>T (p.Lys912Ile) c.2789A>T (p.Lys930Ile) c.19A>T c.308A>T (p.Lys103Ile) c.2678A>T (p.Lys893Ile) n.582+1726T>A c.2363A>T (p.Lys788Ile) c.2360A>T (p.Lys787Ile) n.3151A>T n.2986A>T n.600+1726T>A n.475+3614T>A | |
| 3 | g.193667195A>C | CA355797229 | OPA1 | c.2898A>C (p.Lys966Asn) c.2733A>C (p.Lys911Asn) c.2844A>C (p.Lys948Asn) c.2787A>C (p.Lys929Asn) c.2672A>C c.*958A>C (n.*958A>C) c.2415A>C (p.Lys805Asn) c.*2814A>C (n.*2814A>C) c.2320A>C c.*1217A>C (n.*1217A>C) c.2727A>C c.2748A>C (p.Lys916Asn) c.*2211A>C (n.*2211A>C) c.*1334A>C (n.*1334A>C) c.1721A>C c.2625A>C (p.Lys875Asn) c.2736A>C (p.Lys912Asn) c.2790A>C (p.Lys930Asn) c.20A>C c.309A>C (p.Lys103Asn) c.2679A>C (p.Lys893Asn) n.582+1725T>G c.2364A>C (p.Lys788Asn) c.2361A>C (p.Lys787Asn) n.3152A>C n.2987A>C n.600+1725T>G n.475+3613T>G | |
| 3 | g.193667195A>G | CA437441958 | OPA1 | c.2898A>G (p.Lys966=) c.2733A>G (p.Lys911=) c.2844A>G (p.Lys948=) c.2787A>G (p.Lys929=) c.2672A>G c.*958A>G (n.*958A>G) c.2415A>G (p.Lys805=) c.*2814A>G (n.*2814A>G) c.2320A>G c.*1217A>G (n.*1217A>G) c.2727A>G c.2748A>G (p.Lys916=) c.*2211A>G (n.*2211A>G) c.*1334A>G (n.*1334A>G) c.1721A>G c.2625A>G (p.Lys875=) c.2736A>G (p.Lys912=) c.2790A>G (p.Lys930=) c.20A>G c.309A>G (p.Lys103=) c.2679A>G (p.Lys893=) n.582+1725T>C c.2364A>G (p.Lys788=) c.2361A>G (p.Lys787=) n.3152A>G n.2987A>G n.600+1725T>C n.475+3613T>C | |
| 3 | g.193667195A>T | CA355797232 | OPA1 | c.2898A>T (p.Lys966Asn) c.2733A>T (p.Lys911Asn) c.2844A>T (p.Lys948Asn) c.2787A>T (p.Lys929Asn) c.2672A>T c.*958A>T (n.*958A>T) c.2415A>T (p.Lys805Asn) c.*2814A>T (n.*2814A>T) c.2320A>T c.*1217A>T (n.*1217A>T) c.2727A>T c.2748A>T (p.Lys916Asn) c.*2211A>T (n.*2211A>T) c.*1334A>T (n.*1334A>T) c.1721A>T c.2625A>T (p.Lys875Asn) c.2736A>T (p.Lys912Asn) c.2790A>T (p.Lys930Asn) c.20A>T c.309A>T (p.Lys103Asn) c.2679A>T (p.Lys893Asn) n.582+1725T>A c.2364A>T (p.Lys788Asn) c.2361A>T (p.Lys787Asn) n.3152A>T n.2987A>T n.600+1725T>A n.475+3613T>A | |
| 3 | g.193667196G>A | CA355797241 | OPA1 | c.2899G>A (p.Glu967Lys) c.2734G>A (p.Glu912Lys) c.2845G>A (p.Glu949Lys) c.2788G>A (p.Glu930Lys) c.2673G>A c.*959G>A (n.*959G>A) c.2416G>A (p.Glu806Lys) c.*2815G>A (n.*2815G>A) c.2321G>A c.*1218G>A (n.*1218G>A) c.2728G>A c.2749G>A (p.Glu917Lys) c.*2212G>A (n.*2212G>A) c.*1335G>A (n.*1335G>A) c.1722G>A c.2626G>A (p.Glu876Lys) c.2737G>A (p.Glu913Lys) c.2791G>A (p.Glu931Lys) c.21G>A c.310G>A (p.Glu104Lys) c.2680G>A (p.Glu894Lys) n.582+1724C>T c.2365G>A (p.Glu789Lys) c.2362G>A (p.Glu788Lys) n.3153G>A n.2988G>A n.600+1724C>T n.475+3612C>T | |
| 3 | g.193667196G>C | CA355797249 | OPA1 | c.2899G>C (p.Glu967Gln) c.2734G>C (p.Glu912Gln) c.2845G>C (p.Glu949Gln) c.2788G>C (p.Glu930Gln) c.2673G>C c.*959G>C (n.*959G>C) c.2416G>C (p.Glu806Gln) c.*2815G>C (n.*2815G>C) c.2321G>C c.*1218G>C (n.*1218G>C) c.2728G>C c.2749G>C (p.Glu917Gln) c.*2212G>C (n.*2212G>C) c.*1335G>C (n.*1335G>C) c.1722G>C c.2626G>C (p.Glu876Gln) c.2737G>C (p.Glu913Gln) c.2791G>C (p.Glu931Gln) c.21G>C c.310G>C (p.Glu104Gln) c.2680G>C (p.Glu894Gln) n.582+1724C>G c.2365G>C (p.Glu789Gln) c.2362G>C (p.Glu788Gln) n.3153G>C n.2988G>C n.600+1724C>G n.475+3612C>G | |
| 3 | g.193667196G>T | CA355797253 | OPA1 | c.2899G>T (p.Glu967Ter) c.2734G>T (p.Glu912Ter) c.2845G>T (p.Glu949Ter) c.2788G>T (p.Glu930Ter) c.2673G>T c.*959G>T (n.*959G>T) c.2416G>T (p.Glu806Ter) c.*2815G>T (n.*2815G>T) c.2321G>T c.*1218G>T (n.*1218G>T) c.2728G>T c.2749G>T (p.Glu917Ter) c.*2212G>T (n.*2212G>T) c.*1335G>T (n.*1335G>T) c.1722G>T c.2626G>T (p.Glu876Ter) c.2737G>T (p.Glu913Ter) c.2791G>T (p.Glu931Ter) c.21G>T c.310G>T (p.Glu104Ter) c.2680G>T (p.Glu894Ter) n.582+1724C>A c.2365G>T (p.Glu789Ter) c.2362G>T (p.Glu788Ter) n.3153G>T n.2988G>T n.600+1724C>A n.475+3612C>A | |
| 3 | g.193667197A>C | CA355797257 | OPA1 | c.2900A>C (p.Glu967Ala) c.2735A>C (p.Glu912Ala) c.2846A>C (p.Glu949Ala) c.2789A>C (p.Glu930Ala) c.2674A>C c.*960A>C (n.*960A>C) c.2417A>C (p.Glu806Ala) c.*2816A>C (n.*2816A>C) c.2322A>C c.*1219A>C (n.*1219A>C) c.2729A>C c.2750A>C (p.Glu917Ala) c.*2213A>C (n.*2213A>C) c.*1336A>C (n.*1336A>C) c.1723A>C c.2627A>C (p.Glu876Ala) c.2738A>C (p.Glu913Ala) c.2792A>C (p.Glu931Ala) c.22A>C c.311A>C (p.Glu104Ala) c.2681A>C (p.Glu894Ala) n.582+1723T>G c.2366A>C (p.Glu789Ala) c.2363A>C (p.Glu788Ala) n.3154A>C n.2989A>C n.600+1723T>G n.475+3611T>G | |
| 3 | g.193667197A>G | CA355797259 | OPA1 | c.2900A>G (p.Glu967Gly) c.2735A>G (p.Glu912Gly) c.2846A>G (p.Glu949Gly) c.2789A>G (p.Glu930Gly) c.2674A>G c.*960A>G (n.*960A>G) c.2417A>G (p.Glu806Gly) c.*2816A>G (n.*2816A>G) c.2322A>G c.*1219A>G (n.*1219A>G) c.2729A>G c.2750A>G (p.Glu917Gly) c.*2213A>G (n.*2213A>G) c.*1336A>G (n.*1336A>G) c.1723A>G c.2627A>G (p.Glu876Gly) c.2738A>G (p.Glu913Gly) c.2792A>G (p.Glu931Gly) c.22A>G c.311A>G (p.Glu104Gly) c.2681A>G (p.Glu894Gly) n.582+1723T>C c.2366A>G (p.Glu789Gly) c.2363A>G (p.Glu788Gly) n.3154A>G n.2989A>G n.600+1723T>C n.475+3611T>C | |
| 3 | g.193667197A>T | CA355797261 | OPA1 | c.2900A>T (p.Glu967Val) c.2735A>T (p.Glu912Val) c.2846A>T (p.Glu949Val) c.2789A>T (p.Glu930Val) c.2674A>T c.*960A>T (n.*960A>T) c.2417A>T (p.Glu806Val) c.*2816A>T (n.*2816A>T) c.2322A>T c.*1219A>T (n.*1219A>T) c.2729A>T c.2750A>T (p.Glu917Val) c.*2213A>T (n.*2213A>T) c.*1336A>T (n.*1336A>T) c.1723A>T c.2627A>T (p.Glu876Val) c.2738A>T (p.Glu913Val) c.2792A>T (p.Glu931Val) c.22A>T c.311A>T (p.Glu104Val) c.2681A>T (p.Glu894Val) n.582+1723T>A c.2366A>T (p.Glu789Val) c.2363A>T (p.Glu788Val) n.3154A>T n.2989A>T n.600+1723T>A n.475+3611T>A | |
| 3 | g.193667197_193667198insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT | CA2545160089 | OPA1 | c.2900_2901insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT (p.Glu968SerfsTer2) c.2735_2736insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT (p.Glu913SerfsTer2) c.2846_2847insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT (p.Glu950SerfsTer2) c.2789_2790insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT (p.Glu931SerfsTer2) c.2674_2675insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT c.*960_*961insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT (n.*960_*961insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT) c.2417_2418insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT (p.Glu807SerfsTer2) c.*2816_*2817insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT (n.*2816_*2817insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT) c.2322_2323insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT c.*1219_*1220insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT (n.*1219_*1220insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT) c.2729_2730insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT c.2750_2751insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT (p.Glu918SerfsTer2) c.*2213_*2214insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT (n.*2213_*2214insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT) c.*1336_*1337insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT (n.*1336_*1337insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT) c.1723_1724insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT c.2627_2628insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT (p.Glu877SerfsTer2) c.2738_2739insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT (p.Glu914SerfsTer2) c.2792_2793insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT (p.Glu932SerfsTer2) c.22_23insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT c.311_312insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT (p.Glu105SerfsTer2) c.2681_2682insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT (p.Glu895SerfsTer2) n.582+1722_582+1723insATTTATAAAAACGATGCTCCTCAGGTTTTTTAACTT c.2366_2367insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT (p.Glu790SerfsTer2) c.2363_2364insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT (p.Glu789SerfsTer2) n.3154_3155insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT n.2989_2990insAAGTTAAAAAACCTGAGGAGCATCGTTTTTATAAAT n.600+1722_600+1723insATTTATAAAAACGATGCTCCTCAGGTTTTTTAACTT n.475+3610_475+3611insATTTATAAAAACGATGCTCCTCAGGTTTTTTAACTT | |
| 3 | g.193667198G>A | CA437441959 | OPA1 | c.2901G>A (p.Glu967=) c.2736G>A (p.Glu912=) c.2847G>A (p.Glu949=) c.2790G>A (p.Glu930=) c.2675G>A c.*961G>A (n.*961G>A) c.2418G>A (p.Glu806=) c.*2817G>A (n.*2817G>A) c.2323G>A c.*1220G>A (n.*1220G>A) c.2730G>A c.2751G>A (p.Glu917=) c.*2214G>A (n.*2214G>A) c.*1337G>A (n.*1337G>A) c.1724G>A c.2628G>A (p.Glu876=) c.2739G>A (p.Glu913=) c.2793G>A (p.Glu931=) c.23G>A c.312G>A (p.Glu104=) c.2682G>A (p.Glu894=) n.582+1722C>T c.2367G>A (p.Glu789=) c.2364G>A (p.Glu788=) n.3155G>A n.2990G>A n.600+1722C>T n.475+3610C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.193667198G>C | CA355797268 | OPA1 | c.2901G>C (p.Glu967Asp) c.2736G>C (p.Glu912Asp) c.2847G>C (p.Glu949Asp) c.2790G>C (p.Glu930Asp) c.2675G>C c.*961G>C (n.*961G>C) c.2418G>C (p.Glu806Asp) c.*2817G>C (n.*2817G>C) c.2323G>C c.*1220G>C (n.*1220G>C) c.2730G>C c.2751G>C (p.Glu917Asp) c.*2214G>C (n.*2214G>C) c.*1337G>C (n.*1337G>C) c.1724G>C c.2628G>C (p.Glu876Asp) c.2739G>C (p.Glu913Asp) c.2793G>C (p.Glu931Asp) c.23G>C c.312G>C (p.Glu104Asp) c.2682G>C (p.Glu894Asp) n.582+1722C>G c.2367G>C (p.Glu789Asp) c.2364G>C (p.Glu788Asp) n.3155G>C n.2990G>C n.600+1722C>G n.475+3610C>G | |
| 3 | g.193667198G= | CA1430233529 | OPA1 | c.2901G= (p.Glu967=) c.2736G= (p.Glu912=) c.2847G= (p.Glu949=) c.2790G= (p.Glu930=) c.2675G= c.*961G= (n.*961G=) c.2418G= (p.Glu806=) c.*2817G= (n.*2817G=) c.2323G= c.*1220G= (n.*1220G=) c.2730G= c.2751G= (p.Glu917=) c.*2214G= (n.*2214G=) c.*1337G= (n.*1337G=) c.1724G= c.2628G= (p.Glu876=) c.2739G= (p.Glu913=) c.2793G= (p.Glu931=) c.23G= c.312G= (p.Glu104=) c.2682G= (p.Glu894=) n.582+1722C= c.2367G= (p.Glu789=) c.2364G= (p.Glu788=) n.3155G= n.2990G= n.600+1722C= n.475+3610C= | |
| 3 | g.193667198G>T | CA355797274 | OPA1 | c.2901G>T (p.Glu967Asp) c.2736G>T (p.Glu912Asp) c.2847G>T (p.Glu949Asp) c.2790G>T (p.Glu930Asp) c.2675G>T c.*961G>T (n.*961G>T) c.2418G>T (p.Glu806Asp) c.*2817G>T (n.*2817G>T) c.2323G>T c.*1220G>T (n.*1220G>T) c.2730G>T c.2751G>T (p.Glu917Asp) c.*2214G>T (n.*2214G>T) c.*1337G>T (n.*1337G>T) c.1724G>T c.2628G>T (p.Glu876Asp) c.2739G>T (p.Glu913Asp) c.2793G>T (p.Glu931Asp) c.23G>T c.312G>T (p.Glu104Asp) c.2682G>T (p.Glu894Asp) n.582+1722C>A c.2367G>T (p.Glu789Asp) c.2364G>T (p.Glu788Asp) n.3155G>T n.2990G>T n.600+1722C>A n.475+3610C>A | |
| 3 | g.193667199G>A | CA355797280 | OPA1 | c.2902G>A (p.Val968Ile) c.2737G>A (p.Val913Ile) c.2848G>A (p.Val950Ile) c.2791G>A (p.Val931Ile) c.2676G>A c.*962G>A (n.*962G>A) c.2419G>A (p.Val807Ile) c.*2818G>A (n.*2818G>A) c.2324G>A c.*1221G>A (n.*1221G>A) c.2731G>A c.2752G>A (p.Val918Ile) c.*2215G>A (n.*2215G>A) c.*1338G>A (n.*1338G>A) c.1725G>A c.2629G>A (p.Val877Ile) c.2740G>A (p.Val914Ile) c.2794G>A (p.Val932Ile) c.24G>A c.313G>A (p.Val105Ile) c.2683G>A (p.Val895Ile) n.582+1721C>T c.2368G>A (p.Val790Ile) c.2365G>A (p.Val789Ile) n.3156G>A n.2991G>A n.600+1721C>T n.475+3609C>T | ClinVar dbSNP |
| 3 | g.193667199G>C | CA355797277 | OPA1 | c.2902G>C (p.Val968Leu) c.2737G>C (p.Val913Leu) c.2848G>C (p.Val950Leu) c.2791G>C (p.Val931Leu) c.2676G>C c.*962G>C (n.*962G>C) c.2419G>C (p.Val807Leu) c.*2818G>C (n.*2818G>C) c.2324G>C c.*1221G>C (n.*1221G>C) c.2731G>C c.2752G>C (p.Val918Leu) c.*2215G>C (n.*2215G>C) c.*1338G>C (n.*1338G>C) c.1725G>C c.2629G>C (p.Val877Leu) c.2740G>C (p.Val914Leu) c.2794G>C (p.Val932Leu) c.24G>C c.313G>C (p.Val105Leu) c.2683G>C (p.Val895Leu) n.582+1721C>G c.2368G>C (p.Val790Leu) c.2365G>C (p.Val789Leu) n.3156G>C n.2991G>C n.600+1721C>G n.475+3609C>G | |
| 3 | g.193667199G= | CA1430233541 | OPA1 | c.2902G= (p.Val968=) c.2737G= (p.Val913=) c.2848G= (p.Val950=) c.2791G= (p.Val931=) c.2676G= c.*962G= (n.*962G=) c.2419G= (p.Val807=) c.*2818G= (n.*2818G=) c.2324G= c.*1221G= (n.*1221G=) c.2731G= c.2752G= (p.Val918=) c.*2215G= (n.*2215G=) c.*1338G= (n.*1338G=) c.1725G= c.2629G= (p.Val877=) c.2740G= (p.Val914=) c.2794G= (p.Val932=) c.24G= c.313G= (p.Val105=) c.2683G= (p.Val895=) n.582+1721C= c.2368G= (p.Val790=) c.2365G= (p.Val789=) n.3156G= n.2991G= n.600+1721C= n.475+3609C= | |
| 3 | g.193667199G>T | CA324611 | OPA1 | c.2902G>T (p.Val968Leu) c.2737G>T (p.Val913Leu) c.2848G>T (p.Val950Leu) c.2791G>T (p.Val931Leu) c.2676G>T c.*962G>T (n.*962G>T) c.2419G>T (p.Val807Leu) c.*2818G>T (n.*2818G>T) c.2324G>T c.*1221G>T (n.*1221G>T) c.2731G>T c.2752G>T (p.Val918Leu) c.*2215G>T (n.*2215G>T) c.*1338G>T (n.*1338G>T) c.1725G>T c.2629G>T (p.Val877Leu) c.2740G>T (p.Val914Leu) c.2794G>T (p.Val932Leu) c.24G>T c.313G>T (p.Val105Leu) c.2683G>T (p.Val895Leu) n.582+1721C>A c.2368G>T (p.Val790Leu) c.2365G>T (p.Val789Leu) n.3156G>T n.2991G>T n.600+1721C>A n.475+3609C>A | ClinVar dbSNP |
| 3 | g.193667200_193667204del | CA437441960 | OPA1 | c.2903_2907del (p.Val968GlyfsTer5) c.2738_2742del (p.Val913GlyfsTer5) c.2849_2853del (p.Val950GlyfsTer5) c.2792_2796del (p.Val931GlyfsTer5) c.2677_2681del c.*963_*967del (n.*963_*967del) c.2420_2424del (p.Val807GlyfsTer5) c.*2819_*2823del (n.*2819_*2823del) c.2325_2329del c.*1222_*1226del (n.*1222_*1226del) c.2732_2736del c.2753_2757del (p.Val918GlyfsTer5) c.*2216_*2220del (n.*2216_*2220del) c.*1339_*1343del (n.*1339_*1343del) c.1726_1730del c.2630_2634del (p.Val877GlyfsTer5) c.2741_2745del (p.Val914GlyfsTer5) c.2795_2799del (p.Val932GlyfsTer5) c.25_29del c.314_318del (p.Val105GlyfsTer5) c.2684_2688del (p.Val895GlyfsTer5) n.582+1717_582+1721del c.2369_2373del (p.Val790GlyfsTer5) c.2366_2370del (p.Val789GlyfsTer5) n.3157_3161del n.2992_2996del n.600+1717_600+1721del n.475+3605_475+3609del | |
| 3 | g.193667200T>A | CA355797296 | OPA1 | c.2903T>A (p.Val968Glu) c.2738T>A (p.Val913Glu) c.2849T>A (p.Val950Glu) c.2792T>A (p.Val931Glu) c.2677T>A c.*963T>A (n.*963T>A) c.2420T>A (p.Val807Glu) c.*2819T>A (n.*2819T>A) c.2325T>A c.*1222T>A (n.*1222T>A) c.2732T>A c.2753T>A (p.Val918Glu) c.*2216T>A (n.*2216T>A) c.*1339T>A (n.*1339T>A) c.1726T>A c.2630T>A (p.Val877Glu) c.2741T>A (p.Val914Glu) c.2795T>A (p.Val932Glu) c.25T>A c.314T>A (p.Val105Glu) c.2684T>A (p.Val895Glu) n.582+1720A>T c.2369T>A (p.Val790Glu) c.2366T>A (p.Val789Glu) n.3157T>A n.2992T>A n.600+1720A>T n.475+3608A>T | |
| 3 | g.193667200T>C | CA355797285 | OPA1 | c.2903T>C (p.Val968Ala) c.2738T>C (p.Val913Ala) c.2849T>C (p.Val950Ala) c.2792T>C (p.Val931Ala) c.2677T>C c.*963T>C (n.*963T>C) c.2420T>C (p.Val807Ala) c.*2819T>C (n.*2819T>C) c.2325T>C c.*1222T>C (n.*1222T>C) c.2732T>C c.2753T>C (p.Val918Ala) c.*2216T>C (n.*2216T>C) c.*1339T>C (n.*1339T>C) c.1726T>C c.2630T>C (p.Val877Ala) c.2741T>C (p.Val914Ala) c.2795T>C (p.Val932Ala) c.25T>C c.314T>C (p.Val105Ala) c.2684T>C (p.Val895Ala) n.582+1720A>G c.2369T>C (p.Val790Ala) c.2366T>C (p.Val789Ala) n.3157T>C n.2992T>C n.600+1720A>G n.475+3608A>G | |
| 3 | g.193667200T>G | CA355797293 | OPA1 | c.2903T>G (p.Val968Gly) c.2738T>G (p.Val913Gly) c.2849T>G (p.Val950Gly) c.2792T>G (p.Val931Gly) c.2677T>G c.*963T>G (n.*963T>G) c.2420T>G (p.Val807Gly) c.*2819T>G (n.*2819T>G) c.2325T>G c.*1222T>G (n.*1222T>G) c.2732T>G c.2753T>G (p.Val918Gly) c.*2216T>G (n.*2216T>G) c.*1339T>G (n.*1339T>G) c.1726T>G c.2630T>G (p.Val877Gly) c.2741T>G (p.Val914Gly) c.2795T>G (p.Val932Gly) c.25T>G c.314T>G (p.Val105Gly) c.2684T>G (p.Val895Gly) n.582+1720A>C c.2369T>G (p.Val790Gly) c.2366T>G (p.Val789Gly) n.3157T>G n.2992T>G n.600+1720A>C n.475+3608A>C | |
| 3 | g.193667201A= | CA1430233549 | OPA1 | c.2904A= (p.Val968=) c.2739A= (p.Val913=) c.2850A= (p.Val950=) c.2793A= (p.Val931=) c.2678A= c.*964A= (n.*964A=) c.2421A= (p.Val807=) c.*2820A= (n.*2820A=) c.2326A= c.*1223A= (n.*1223A=) c.2733A= c.2754A= (p.Val918=) c.*2217A= (n.*2217A=) c.*1340A= (n.*1340A=) c.1727A= c.2631A= (p.Val877=) c.2742A= (p.Val914=) c.2796A= (p.Val932=) c.26A= c.315A= (p.Val105=) c.2685A= (p.Val895=) n.582+1719T= c.2370A= (p.Val790=) c.2367A= (p.Val789=) n.3158A= n.2993A= n.600+1719T= n.475+3607T= | |
| 3 | g.193667201A>C | CA437441961 | OPA1 | c.2904A>C (p.Val968=) c.2739A>C (p.Val913=) c.2850A>C (p.Val950=) c.2793A>C (p.Val931=) c.2678A>C c.*964A>C (n.*964A>C) c.2421A>C (p.Val807=) c.*2820A>C (n.*2820A>C) c.2326A>C c.*1223A>C (n.*1223A>C) c.2733A>C c.2754A>C (p.Val918=) c.*2217A>C (n.*2217A>C) c.*1340A>C (n.*1340A>C) c.1727A>C c.2631A>C (p.Val877=) c.2742A>C (p.Val914=) c.2796A>C (p.Val932=) c.26A>C c.315A>C (p.Val105=) c.2685A>C (p.Val895=) n.582+1719T>G c.2370A>C (p.Val790=) c.2367A>C (p.Val789=) n.3158A>C n.2993A>C n.600+1719T>G n.475+3607T>G | |
| 3 | g.193667201A>G | CA2759780 | OPA1 | c.2904A>G (p.Val968=) c.2739A>G (p.Val913=) c.2850A>G (p.Val950=) c.2793A>G (p.Val931=) c.2678A>G c.*964A>G (n.*964A>G) c.2421A>G (p.Val807=) c.*2820A>G (n.*2820A>G) c.2326A>G c.*1223A>G (n.*1223A>G) c.2733A>G c.2754A>G (p.Val918=) c.*2217A>G (n.*2217A>G) c.*1340A>G (n.*1340A>G) c.1727A>G c.2631A>G (p.Val877=) c.2742A>G (p.Val914=) c.2796A>G (p.Val932=) c.26A>G c.315A>G (p.Val105=) c.2685A>G (p.Val895=) n.582+1719T>C c.2370A>G (p.Val790=) c.2367A>G (p.Val789=) n.3158A>G n.2993A>G n.600+1719T>C n.475+3607T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193667201A>T | CA437441962 | OPA1 | c.2904A>T (p.Val968=) c.2739A>T (p.Val913=) c.2850A>T (p.Val950=) c.2793A>T (p.Val931=) c.2678A>T c.*964A>T (n.*964A>T) c.2421A>T (p.Val807=) c.*2820A>T (n.*2820A>T) c.2326A>T c.*1223A>T (n.*1223A>T) c.2733A>T c.2754A>T (p.Val918=) c.*2217A>T (n.*2217A>T) c.*1340A>T (n.*1340A>T) c.1727A>T c.2631A>T (p.Val877=) c.2742A>T (p.Val914=) c.2796A>T (p.Val932=) c.26A>T c.315A>T (p.Val105=) c.2685A>T (p.Val895=) n.582+1719T>A c.2370A>T (p.Val790=) c.2367A>T (p.Val789=) n.3158A>T n.2993A>T n.600+1719T>A n.475+3607T>A | |
| 3 | g.193667202T>A | CA355797304 | OPA1 | c.2905T>A (p.Leu969Met) c.2740T>A (p.Leu914Met) c.2851T>A (p.Leu951Met) c.2794T>A (p.Leu932Met) c.2679T>A c.*965T>A (n.*965T>A) c.2422T>A (p.Leu808Met) c.*2821T>A (n.*2821T>A) c.2327T>A c.*1224T>A (n.*1224T>A) c.2734T>A c.2755T>A (p.Leu919Met) c.*2218T>A (n.*2218T>A) c.*1341T>A (n.*1341T>A) c.1728T>A c.2632T>A (p.Leu878Met) c.2743T>A (p.Leu915Met) c.2797T>A (p.Leu933Met) c.27T>A c.316T>A (p.Leu106Met) c.2686T>A (p.Leu896Met) n.582+1718A>T c.2371T>A (p.Leu791Met) c.2368T>A (p.Leu790Met) n.3159T>A n.2994T>A n.600+1718A>T n.475+3606A>T | |
| 3 | g.193667202T>C | CA437441963 | OPA1 | c.2905T>C (p.Leu969=) c.2740T>C (p.Leu914=) c.2851T>C (p.Leu951=) c.2794T>C (p.Leu932=) c.2679T>C c.*965T>C (n.*965T>C) c.2422T>C (p.Leu808=) c.*2821T>C (n.*2821T>C) c.2327T>C c.*1224T>C (n.*1224T>C) c.2734T>C c.2755T>C (p.Leu919=) c.*2218T>C (n.*2218T>C) c.*1341T>C (n.*1341T>C) c.1728T>C c.2632T>C (p.Leu878=) c.2743T>C (p.Leu915=) c.2797T>C (p.Leu933=) c.27T>C c.316T>C (p.Leu106=) c.2686T>C (p.Leu896=) n.582+1718A>G c.2371T>C (p.Leu791=) c.2368T>C (p.Leu790=) n.3159T>C n.2994T>C n.600+1718A>G n.475+3606A>G | gnomAD v4 |
| 3 | g.193667202T>G | CA355797306 | OPA1 | c.2905T>G (p.Leu969Val) c.2740T>G (p.Leu914Val) c.2851T>G (p.Leu951Val) c.2794T>G (p.Leu932Val) c.2679T>G c.*965T>G (n.*965T>G) c.2422T>G (p.Leu808Val) c.*2821T>G (n.*2821T>G) c.2327T>G c.*1224T>G (n.*1224T>G) c.2734T>G c.2755T>G (p.Leu919Val) c.*2218T>G (n.*2218T>G) c.*1341T>G (n.*1341T>G) c.1728T>G c.2632T>G (p.Leu878Val) c.2743T>G (p.Leu915Val) c.2797T>G (p.Leu933Val) c.27T>G c.316T>G (p.Leu106Val) c.2686T>G (p.Leu896Val) n.582+1718A>C c.2371T>G (p.Leu791Val) c.2368T>G (p.Leu790Val) n.3159T>G n.2994T>G n.600+1718A>C n.475+3606A>C | |
| 3 | g.193667203T>A | CA355797309 | OPA1 | c.2906T>A (p.Leu969Ter) c.2741T>A (p.Leu914Ter) c.2852T>A (p.Leu951Ter) c.2795T>A (p.Leu932Ter) c.2680T>A c.*966T>A (n.*966T>A) c.2423T>A (p.Leu808Ter) c.*2822T>A (n.*2822T>A) c.2328T>A c.*1225T>A (n.*1225T>A) c.2735T>A c.2756T>A (p.Leu919Ter) c.*2219T>A (n.*2219T>A) c.*1342T>A (n.*1342T>A) c.1729T>A c.2633T>A (p.Leu878Ter) c.2744T>A (p.Leu915Ter) c.2798T>A (p.Leu933Ter) c.28T>A c.317T>A (p.Leu106Ter) c.2687T>A (p.Leu896Ter) n.582+1717A>T c.2372T>A (p.Leu791Ter) c.2369T>A (p.Leu790Ter) n.3160T>A n.2995T>A n.600+1717A>T n.475+3605A>T | |
| 3 | g.193667203T>C | CA355797310 | OPA1 | c.2906T>C (p.Leu969Ser) c.2741T>C (p.Leu914Ser) c.2852T>C (p.Leu951Ser) c.2795T>C (p.Leu932Ser) c.2680T>C c.*966T>C (n.*966T>C) c.2423T>C (p.Leu808Ser) c.*2822T>C (n.*2822T>C) c.2328T>C c.*1225T>C (n.*1225T>C) c.2735T>C c.2756T>C (p.Leu919Ser) c.*2219T>C (n.*2219T>C) c.*1342T>C (n.*1342T>C) c.1729T>C c.2633T>C (p.Leu878Ser) c.2744T>C (p.Leu915Ser) c.2798T>C (p.Leu933Ser) c.28T>C c.317T>C (p.Leu106Ser) c.2687T>C (p.Leu896Ser) n.582+1717A>G c.2372T>C (p.Leu791Ser) c.2369T>C (p.Leu790Ser) n.3160T>C n.2995T>C n.600+1717A>G n.475+3605A>G | |
| 3 | g.193667203T>G | CA355797311 | OPA1 | c.2906T>G (p.Leu969Trp) c.2741T>G (p.Leu914Trp) c.2852T>G (p.Leu951Trp) c.2795T>G (p.Leu932Trp) c.2680T>G c.*966T>G (n.*966T>G) c.2423T>G (p.Leu808Trp) c.*2822T>G (n.*2822T>G) c.2328T>G c.*1225T>G (n.*1225T>G) c.2735T>G c.2756T>G (p.Leu919Trp) c.*2219T>G (n.*2219T>G) c.*1342T>G (n.*1342T>G) c.1729T>G c.2633T>G (p.Leu878Trp) c.2744T>G (p.Leu915Trp) c.2798T>G (p.Leu933Trp) c.28T>G c.317T>G (p.Leu106Trp) c.2687T>G (p.Leu896Trp) n.582+1717A>C c.2372T>G (p.Leu791Trp) c.2369T>G (p.Leu790Trp) n.3160T>G n.2995T>G n.600+1717A>C n.475+3605A>C | |
| 3 | g.193667204G>A | CA90558275 | OPA1 | c.2907G>A (p.Leu969=) c.2742G>A (p.Leu914=) c.2853G>A (p.Leu951=) c.2796G>A (p.Leu932=) c.2681G>A c.*967G>A (n.*967G>A) c.2424G>A (p.Leu808=) c.*2823G>A (n.*2823G>A) c.2329G>A c.*1226G>A (n.*1226G>A) c.2736G>A c.2757G>A (p.Leu919=) c.*2220G>A (n.*2220G>A) c.*1343G>A (n.*1343G>A) c.1730G>A c.2634G>A (p.Leu878=) c.2745G>A (p.Leu915=) c.2799G>A (p.Leu933=) c.29G>A c.318G>A (p.Leu106=) c.2688G>A (p.Leu896=) n.582+1716C>T c.2373G>A (p.Leu791=) c.2370G>A (p.Leu790=) n.3161G>A n.2996G>A n.600+1716C>T n.475+3604C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193667204G>C | CA355797312 | OPA1 | c.2907G>C (p.Leu969Phe) c.2742G>C (p.Leu914Phe) c.2853G>C (p.Leu951Phe) c.2796G>C (p.Leu932Phe) c.2681G>C c.*967G>C (n.*967G>C) c.2424G>C (p.Leu808Phe) c.*2823G>C (n.*2823G>C) c.2329G>C c.*1226G>C (n.*1226G>C) c.2736G>C c.2757G>C (p.Leu919Phe) c.*2220G>C (n.*2220G>C) c.*1343G>C (n.*1343G>C) c.1730G>C c.2634G>C (p.Leu878Phe) c.2745G>C (p.Leu915Phe) c.2799G>C (p.Leu933Phe) c.29G>C c.318G>C (p.Leu106Phe) c.2688G>C (p.Leu896Phe) n.582+1716C>G c.2373G>C (p.Leu791Phe) c.2370G>C (p.Leu790Phe) n.3161G>C n.2996G>C n.600+1716C>G n.475+3604C>G | |
| 3 | g.193667204G= | CA1430233554 | OPA1 | c.2907G= (p.Leu969=) c.2742G= (p.Leu914=) c.2853G= (p.Leu951=) c.2796G= (p.Leu932=) c.2681G= c.*967G= (n.*967G=) c.2424G= (p.Leu808=) c.*2823G= (n.*2823G=) c.2329G= c.*1226G= (n.*1226G=) c.2736G= c.2757G= (p.Leu919=) c.*2220G= (n.*2220G=) c.*1343G= (n.*1343G=) c.1730G= c.2634G= (p.Leu878=) c.2745G= (p.Leu915=) c.2799G= (p.Leu933=) c.29G= c.318G= (p.Leu106=) c.2688G= (p.Leu896=) n.582+1716C= c.2373G= (p.Leu791=) c.2370G= (p.Leu790=) n.3161G= n.2996G= n.600+1716C= n.475+3604C= | |
| 3 | g.193667204G>T | CA355797313 | OPA1 | c.2907G>T (p.Leu969Phe) c.2742G>T (p.Leu914Phe) c.2853G>T (p.Leu951Phe) c.2796G>T (p.Leu932Phe) c.2681G>T c.*967G>T (n.*967G>T) c.2424G>T (p.Leu808Phe) c.*2823G>T (n.*2823G>T) c.2329G>T c.*1226G>T (n.*1226G>T) c.2736G>T c.2757G>T (p.Leu919Phe) c.*2220G>T (n.*2220G>T) c.*1343G>T (n.*1343G>T) c.1730G>T c.2634G>T (p.Leu878Phe) c.2745G>T (p.Leu915Phe) c.2799G>T (p.Leu933Phe) c.29G>T c.318G>T (p.Leu106Phe) c.2688G>T (p.Leu896Phe) n.582+1716C>A c.2373G>T (p.Leu791Phe) c.2370G>T (p.Leu790Phe) n.3161G>T n.2996G>T n.600+1716C>A n.475+3604C>A | |
| 3 | g.193667205G>A | CA355797314 | OPA1 | c.2908G>A (p.Glu970Lys) c.2743G>A (p.Glu915Lys) c.2854G>A (p.Glu952Lys) c.2797G>A (p.Glu933Lys) c.2682G>A c.*968G>A (n.*968G>A) c.2425G>A (p.Glu809Lys) c.*2824G>A (n.*2824G>A) c.2330G>A c.*1227G>A (n.*1227G>A) c.2737G>A c.2758G>A (p.Glu920Lys) c.*2221G>A (n.*2221G>A) c.*1344G>A (n.*1344G>A) c.1731G>A c.2635G>A (p.Glu879Lys) c.2746G>A (p.Glu916Lys) c.2800G>A (p.Glu934Lys) c.30G>A c.319G>A (p.Glu107Lys) c.2689G>A (p.Glu897Lys) n.582+1715C>T c.2374G>A (p.Glu792Lys) c.2371G>A (p.Glu791Lys) n.3162G>A n.2997G>A n.600+1715C>T n.475+3603C>T | |
| 3 | g.193667205G>C | CA355797316 | OPA1 | c.2908G>C (p.Glu970Gln) c.2743G>C (p.Glu915Gln) c.2854G>C (p.Glu952Gln) c.2797G>C (p.Glu933Gln) c.2682G>C c.*968G>C (n.*968G>C) c.2425G>C (p.Glu809Gln) c.*2824G>C (n.*2824G>C) c.2330G>C c.*1227G>C (n.*1227G>C) c.2737G>C c.2758G>C (p.Glu920Gln) c.*2221G>C (n.*2221G>C) c.*1344G>C (n.*1344G>C) c.1731G>C c.2635G>C (p.Glu879Gln) c.2746G>C (p.Glu916Gln) c.2800G>C (p.Glu934Gln) c.30G>C c.319G>C (p.Glu107Gln) c.2689G>C (p.Glu897Gln) n.582+1715C>G c.2374G>C (p.Glu792Gln) c.2371G>C (p.Glu791Gln) n.3162G>C n.2997G>C n.600+1715C>G n.475+3603C>G | |
| 3 | g.193667205G>T | CA355797319 | OPA1 | c.2908G>T (p.Glu970Ter) c.2743G>T (p.Glu915Ter) c.2854G>T (p.Glu952Ter) c.2797G>T (p.Glu933Ter) c.2682G>T c.*968G>T (n.*968G>T) c.2425G>T (p.Glu809Ter) c.*2824G>T (n.*2824G>T) c.2330G>T c.*1227G>T (n.*1227G>T) c.2737G>T c.2758G>T (p.Glu920Ter) c.*2221G>T (n.*2221G>T) c.*1344G>T (n.*1344G>T) c.1731G>T c.2635G>T (p.Glu879Ter) c.2746G>T (p.Glu916Ter) c.2800G>T (p.Glu934Ter) c.30G>T c.319G>T (p.Glu107Ter) c.2689G>T (p.Glu897Ter) n.582+1715C>A c.2374G>T (p.Glu792Ter) c.2371G>T (p.Glu791Ter) n.3162G>T n.2997G>T n.600+1715C>A n.475+3603C>A | |
| 3 | g.193667206A>C | CA355797332 | OPA1 | c.2909A>C (p.Glu970Ala) c.2744A>C (p.Glu915Ala) c.2855A>C (p.Glu952Ala) c.2798A>C (p.Glu933Ala) c.2683A>C c.*969A>C (n.*969A>C) c.2426A>C (p.Glu809Ala) c.*2825A>C (n.*2825A>C) c.2331A>C c.*1228A>C (n.*1228A>C) c.2738A>C c.2759A>C (p.Glu920Ala) c.*2222A>C (n.*2222A>C) c.*1345A>C (n.*1345A>C) c.1732A>C c.2636A>C (p.Glu879Ala) c.2747A>C (p.Glu916Ala) c.2801A>C (p.Glu934Ala) c.31A>C c.320A>C (p.Glu107Ala) c.2690A>C (p.Glu897Ala) n.582+1714T>G c.2375A>C (p.Glu792Ala) c.2372A>C (p.Glu791Ala) n.3163A>C n.2998A>C n.600+1714T>G n.475+3602T>G | |
| 3 | g.193667206A>G | CA355797324 | OPA1 | c.2909A>G (p.Glu970Gly) c.2744A>G (p.Glu915Gly) c.2855A>G (p.Glu952Gly) c.2798A>G (p.Glu933Gly) c.2683A>G c.*969A>G (n.*969A>G) c.2426A>G (p.Glu809Gly) c.*2825A>G (n.*2825A>G) c.2331A>G c.*1228A>G (n.*1228A>G) c.2738A>G c.2759A>G (p.Glu920Gly) c.*2222A>G (n.*2222A>G) c.*1345A>G (n.*1345A>G) c.1732A>G c.2636A>G (p.Glu879Gly) c.2747A>G (p.Glu916Gly) c.2801A>G (p.Glu934Gly) c.31A>G c.320A>G (p.Glu107Gly) c.2690A>G (p.Glu897Gly) n.582+1714T>C c.2375A>G (p.Glu792Gly) c.2372A>G (p.Glu791Gly) n.3163A>G n.2998A>G n.600+1714T>C n.475+3602T>C | |
| 3 | g.193667206A>T | CA355797329 | OPA1 | c.2909A>T (p.Glu970Val) c.2744A>T (p.Glu915Val) c.2855A>T (p.Glu952Val) c.2798A>T (p.Glu933Val) c.2683A>T c.*969A>T (n.*969A>T) c.2426A>T (p.Glu809Val) c.*2825A>T (n.*2825A>T) c.2331A>T c.*1228A>T (n.*1228A>T) c.2738A>T c.2759A>T (p.Glu920Val) c.*2222A>T (n.*2222A>T) c.*1345A>T (n.*1345A>T) c.1732A>T c.2636A>T (p.Glu879Val) c.2747A>T (p.Glu916Val) c.2801A>T (p.Glu934Val) c.31A>T c.320A>T (p.Glu107Val) c.2690A>T (p.Glu897Val) n.582+1714T>A c.2375A>T (p.Glu792Val) c.2372A>T (p.Glu791Val) n.3163A>T n.2998A>T n.600+1714T>A n.475+3602T>A | |
| 3 | g.193667207A= | CA1430233557 | OPA1 | c.2910A= (p.Glu970=) c.2745A= (p.Glu915=) c.2856A= (p.Glu952=) c.2799A= (p.Glu933=) c.2684A= c.*970A= (n.*970A=) c.2427A= (p.Glu809=) c.*2826A= (n.*2826A=) c.2332A= c.*1229A= (n.*1229A=) c.2739A= c.2760A= (p.Glu920=) c.*2223A= (n.*2223A=) c.*1346A= (n.*1346A=) c.1733A= c.2637A= (p.Glu879=) c.2748A= (p.Glu916=) c.2802A= (p.Glu934=) c.32A= c.321A= (p.Glu107=) c.2691A= (p.Glu897=) n.582+1713T= c.2376A= (p.Glu792=) c.2373A= (p.Glu791=) n.3164A= n.2999A= n.600+1713T= n.475+3601T= | |
| 3 | g.193667207A>C | CA355797337 | OPA1 | c.2910A>C (p.Glu970Asp) c.2745A>C (p.Glu915Asp) c.2856A>C (p.Glu952Asp) c.2799A>C (p.Glu933Asp) c.2684A>C c.*970A>C (n.*970A>C) c.2427A>C (p.Glu809Asp) c.*2826A>C (n.*2826A>C) c.2332A>C c.*1229A>C (n.*1229A>C) c.2739A>C c.2760A>C (p.Glu920Asp) c.*2223A>C (n.*2223A>C) c.*1346A>C (n.*1346A>C) c.1733A>C c.2637A>C (p.Glu879Asp) c.2748A>C (p.Glu916Asp) c.2802A>C (p.Glu934Asp) c.32A>C c.321A>C (p.Glu107Asp) c.2691A>C (p.Glu897Asp) n.582+1713T>G c.2376A>C (p.Glu792Asp) c.2373A>C (p.Glu791Asp) n.3164A>C n.2999A>C n.600+1713T>G n.475+3601T>G | |
| 3 | g.193667207A>G | CA437441965 | OPA1 | c.2910A>G (p.Glu970=) c.2745A>G (p.Glu915=) c.2856A>G (p.Glu952=) c.2799A>G (p.Glu933=) c.2684A>G c.*970A>G (n.*970A>G) c.2427A>G (p.Glu809=) c.*2826A>G (n.*2826A>G) c.2332A>G c.*1229A>G (n.*1229A>G) c.2739A>G c.2760A>G (p.Glu920=) c.*2223A>G (n.*2223A>G) c.*1346A>G (n.*1346A>G) c.1733A>G c.2637A>G (p.Glu879=) c.2748A>G (p.Glu916=) c.2802A>G (p.Glu934=) c.32A>G c.321A>G (p.Glu107=) c.2691A>G (p.Glu897=) n.582+1713T>C c.2376A>G (p.Glu792=) c.2373A>G (p.Glu791=) n.3164A>G n.2999A>G n.600+1713T>C n.475+3601T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193667207A>T | CA355797340 | OPA1 | c.2910A>T (p.Glu970Asp) c.2745A>T (p.Glu915Asp) c.2856A>T (p.Glu952Asp) c.2799A>T (p.Glu933Asp) c.2684A>T c.*970A>T (n.*970A>T) c.2427A>T (p.Glu809Asp) c.*2826A>T (n.*2826A>T) c.2332A>T c.*1229A>T (n.*1229A>T) c.2739A>T c.2760A>T (p.Glu920Asp) c.*2223A>T (n.*2223A>T) c.*1346A>T (n.*1346A>T) c.1733A>T c.2637A>T (p.Glu879Asp) c.2748A>T (p.Glu916Asp) c.2802A>T (p.Glu934Asp) c.32A>T c.321A>T (p.Glu107Asp) c.2691A>T (p.Glu897Asp) n.582+1713T>A c.2376A>T (p.Glu792Asp) c.2373A>T (p.Glu791Asp) n.3164A>T n.2999A>T n.600+1713T>A n.475+3601T>A | |
| 3 | g.193667208G>A | CA355797342 | OPA1 | c.2911G>A (p.Asp971Asn) c.2746G>A (p.Asp916Asn) c.2857G>A (p.Asp953Asn) c.2800G>A (p.Asp934Asn) c.2685G>A c.*971G>A (n.*971G>A) c.2428G>A (p.Asp810Asn) c.*2827G>A (n.*2827G>A) c.2333G>A c.*1230G>A (n.*1230G>A) c.2740G>A c.2761G>A (p.Asp921Asn) c.*2224G>A (n.*2224G>A) c.*1347G>A (n.*1347G>A) c.1734G>A c.2638G>A (p.Asp880Asn) c.2749G>A (p.Asp917Asn) c.2803G>A (p.Asp935Asn) c.33G>A c.322G>A (p.Asp108Asn) c.2692G>A (p.Asp898Asn) n.582+1712C>T c.2377G>A (p.Asp793Asn) c.2374G>A (p.Asp792Asn) n.3165G>A n.3000G>A n.600+1712C>T n.475+3600C>T | gnomAD v4 |
| 3 | g.193667208G>C | CA355797343 | OPA1 | c.2911G>C (p.Asp971His) c.2746G>C (p.Asp916His) c.2857G>C (p.Asp953His) c.2800G>C (p.Asp934His) c.2685G>C c.*971G>C (n.*971G>C) c.2428G>C (p.Asp810His) c.*2827G>C (n.*2827G>C) c.2333G>C c.*1230G>C (n.*1230G>C) c.2740G>C c.2761G>C (p.Asp921His) c.*2224G>C (n.*2224G>C) c.*1347G>C (n.*1347G>C) c.1734G>C c.2638G>C (p.Asp880His) c.2749G>C (p.Asp917His) c.2803G>C (p.Asp935His) c.33G>C c.322G>C (p.Asp108His) c.2692G>C (p.Asp898His) n.582+1712C>G c.2377G>C (p.Asp793His) c.2374G>C (p.Asp792His) n.3165G>C n.3000G>C n.600+1712C>G n.475+3600C>G | |
| 3 | g.193667208G>T | CA355797348 | OPA1 | c.2911G>T (p.Asp971Tyr) c.2746G>T (p.Asp916Tyr) c.2857G>T (p.Asp953Tyr) c.2800G>T (p.Asp934Tyr) c.2685G>T c.*971G>T (n.*971G>T) c.2428G>T (p.Asp810Tyr) c.*2827G>T (n.*2827G>T) c.2333G>T c.*1230G>T (n.*1230G>T) c.2740G>T c.2761G>T (p.Asp921Tyr) c.*2224G>T (n.*2224G>T) c.*1347G>T (n.*1347G>T) c.1734G>T c.2638G>T (p.Asp880Tyr) c.2749G>T (p.Asp917Tyr) c.2803G>T (p.Asp935Tyr) c.33G>T c.322G>T (p.Asp108Tyr) c.2692G>T (p.Asp898Tyr) n.582+1712C>A c.2377G>T (p.Asp793Tyr) c.2374G>T (p.Asp792Tyr) n.3165G>T n.3000G>T n.600+1712C>A n.475+3600C>A | |
| 3 | g.193667209A= | CA1430233562 | OPA1 | c.2912A= (p.Asp971=) c.2747A= (p.Asp916=) c.2858A= (p.Asp953=) c.2801A= (p.Asp934=) c.2686A= c.*972A= (n.*972A=) c.2429A= (p.Asp810=) c.*2828A= (n.*2828A=) c.2334A= c.*1231A= (n.*1231A=) c.2741A= c.2762A= (p.Asp921=) c.*2225A= (n.*2225A=) c.*1348A= (n.*1348A=) c.1735A= c.2639A= (p.Asp880=) c.2750A= (p.Asp917=) c.2804A= (p.Asp935=) c.34A= c.323A= (p.Asp108=) c.2693A= (p.Asp898=) n.582+1711T= c.2378A= (p.Asp793=) c.2375A= (p.Asp792=) n.3166A= n.3001A= n.600+1711T= n.475+3599T= | |
| 3 | g.193667209A>C | CA355797352 | OPA1 | c.2912A>C (p.Asp971Ala) c.2747A>C (p.Asp916Ala) c.2858A>C (p.Asp953Ala) c.2801A>C (p.Asp934Ala) c.2686A>C c.*972A>C (n.*972A>C) c.2429A>C (p.Asp810Ala) c.*2828A>C (n.*2828A>C) c.2334A>C c.*1231A>C (n.*1231A>C) c.2741A>C c.2762A>C (p.Asp921Ala) c.*2225A>C (n.*2225A>C) c.*1348A>C (n.*1348A>C) c.1735A>C c.2639A>C (p.Asp880Ala) c.2750A>C (p.Asp917Ala) c.2804A>C (p.Asp935Ala) c.34A>C c.323A>C (p.Asp108Ala) c.2693A>C (p.Asp898Ala) n.582+1711T>G c.2378A>C (p.Asp793Ala) c.2375A>C (p.Asp792Ala) n.3166A>C n.3001A>C n.600+1711T>G n.475+3599T>G | |
| 3 | g.193667209A>G | CA355797355 | OPA1 | c.2912A>G (p.Asp971Gly) c.2747A>G (p.Asp916Gly) c.2858A>G (p.Asp953Gly) c.2801A>G (p.Asp934Gly) c.2686A>G c.*972A>G (n.*972A>G) c.2429A>G (p.Asp810Gly) c.*2828A>G (n.*2828A>G) c.2334A>G c.*1231A>G (n.*1231A>G) c.2741A>G c.2762A>G (p.Asp921Gly) c.*2225A>G (n.*2225A>G) c.*1348A>G (n.*1348A>G) c.1735A>G c.2639A>G (p.Asp880Gly) c.2750A>G (p.Asp917Gly) c.2804A>G (p.Asp935Gly) c.34A>G c.323A>G (p.Asp108Gly) c.2693A>G (p.Asp898Gly) n.582+1711T>C c.2378A>G (p.Asp793Gly) c.2375A>G (p.Asp792Gly) n.3166A>G n.3001A>G n.600+1711T>C n.475+3599T>C | |
| 3 | g.193667209A>T | CA2759781 | OPA1 | c.2912A>T (p.Asp971Val) c.2747A>T (p.Asp916Val) c.2858A>T (p.Asp953Val) c.2801A>T (p.Asp934Val) c.2686A>T c.*972A>T (n.*972A>T) c.2429A>T (p.Asp810Val) c.*2828A>T (n.*2828A>T) c.2334A>T c.*1231A>T (n.*1231A>T) c.2741A>T c.2762A>T (p.Asp921Val) c.*2225A>T (n.*2225A>T) c.*1348A>T (n.*1348A>T) c.1735A>T c.2639A>T (p.Asp880Val) c.2750A>T (p.Asp917Val) c.2804A>T (p.Asp935Val) c.34A>T c.323A>T (p.Asp108Val) c.2693A>T (p.Asp898Val) n.582+1711T>A c.2378A>T (p.Asp793Val) c.2375A>T (p.Asp792Val) n.3166A>T n.3001A>T n.600+1711T>A n.475+3599T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.193667210T>A | CA355797362 | OPA1 | c.2913T>A (p.Asp971Glu) c.2748T>A (p.Asp916Glu) c.2859T>A (p.Asp953Glu) c.2802T>A (p.Asp934Glu) c.2687T>A c.*973T>A (n.*973T>A) c.2430T>A (p.Asp810Glu) c.*2829T>A (n.*2829T>A) c.2335T>A c.*1232T>A (n.*1232T>A) c.2742T>A c.2763T>A (p.Asp921Glu) c.*2226T>A (n.*2226T>A) c.*1349T>A (n.*1349T>A) c.1736T>A c.2640T>A (p.Asp880Glu) c.2751T>A (p.Asp917Glu) c.2805T>A (p.Asp935Glu) c.35T>A c.324T>A (p.Asp108Glu) c.2694T>A (p.Asp898Glu) n.582+1710A>T c.2379T>A (p.Asp793Glu) c.2376T>A (p.Asp792Glu) n.3167T>A n.3002T>A n.600+1710A>T n.475+3598A>T | |
| 3 | g.193667210T>C | CA437441967 | OPA1 | c.2913T>C (p.Asp971=) c.2748T>C (p.Asp916=) c.2859T>C (p.Asp953=) c.2802T>C (p.Asp934=) c.2687T>C c.*973T>C (n.*973T>C) c.2430T>C (p.Asp810=) c.*2829T>C (n.*2829T>C) c.2335T>C c.*1232T>C (n.*1232T>C) c.2742T>C c.2763T>C (p.Asp921=) c.*2226T>C (n.*2226T>C) c.*1349T>C (n.*1349T>C) c.1736T>C c.2640T>C (p.Asp880=) c.2751T>C (p.Asp917=) c.2805T>C (p.Asp935=) c.35T>C c.324T>C (p.Asp108=) c.2694T>C (p.Asp898=) n.582+1710A>G c.2379T>C (p.Asp793=) c.2376T>C (p.Asp792=) n.3167T>C n.3002T>C n.600+1710A>G n.475+3598A>G | |
| 3 | g.193667210T>G | CA355797366 | OPA1 | c.2913T>G (p.Asp971Glu) c.2748T>G (p.Asp916Glu) c.2859T>G (p.Asp953Glu) c.2802T>G (p.Asp934Glu) c.2687T>G c.*973T>G (n.*973T>G) c.2430T>G (p.Asp810Glu) c.*2829T>G (n.*2829T>G) c.2335T>G c.*1232T>G (n.*1232T>G) c.2742T>G c.2763T>G (p.Asp921Glu) c.*2226T>G (n.*2226T>G) c.*1349T>G (n.*1349T>G) c.1736T>G c.2640T>G (p.Asp880Glu) c.2751T>G (p.Asp917Glu) c.2805T>G (p.Asp935Glu) c.35T>G c.324T>G (p.Asp108Glu) c.2694T>G (p.Asp898Glu) n.582+1710A>C c.2379T>G (p.Asp793Glu) c.2376T>G (p.Asp792Glu) n.3167T>G n.3002T>G n.600+1710A>C n.475+3598A>C | |
| 3 | g.193667211T>A | CA355797371 | OPA1 | c.2914T>A (p.Phe972Ile) c.2749T>A (p.Phe917Ile) c.2860T>A (p.Phe954Ile) c.2803T>A (p.Phe935Ile) c.2688T>A c.*974T>A (n.*974T>A) c.2431T>A (p.Phe811Ile) c.*2830T>A (n.*2830T>A) c.2336T>A c.*1233T>A (n.*1233T>A) c.2743T>A c.2764T>A (p.Phe922Ile) c.*2227T>A (n.*2227T>A) c.*1350T>A (n.*1350T>A) c.1737T>A c.2641T>A (p.Phe881Ile) c.2752T>A (p.Phe918Ile) c.2806T>A (p.Phe936Ile) c.36T>A c.325T>A (p.Phe109Ile) c.2695T>A (p.Phe899Ile) n.582+1709A>T c.2380T>A (p.Phe794Ile) c.2377T>A (p.Phe793Ile) n.3168T>A n.3003T>A n.600+1709A>T n.475+3597A>T | gnomAD v4 |
| 3 | g.193667211T>C | CA355797374 | OPA1 | c.2914T>C (p.Phe972Leu) c.2749T>C (p.Phe917Leu) c.2860T>C (p.Phe954Leu) c.2803T>C (p.Phe935Leu) c.2688T>C c.*974T>C (n.*974T>C) c.2431T>C (p.Phe811Leu) c.*2830T>C (n.*2830T>C) c.2336T>C c.*1233T>C (n.*1233T>C) c.2743T>C c.2764T>C (p.Phe922Leu) c.*2227T>C (n.*2227T>C) c.*1350T>C (n.*1350T>C) c.1737T>C c.2641T>C (p.Phe881Leu) c.2752T>C (p.Phe918Leu) c.2806T>C (p.Phe936Leu) c.36T>C c.325T>C (p.Phe109Leu) c.2695T>C (p.Phe899Leu) n.582+1709A>G c.2380T>C (p.Phe794Leu) c.2377T>C (p.Phe793Leu) n.3168T>C n.3003T>C n.600+1709A>G n.475+3597A>G | |
| 3 | g.193667211T>G | CA355797378 | OPA1 | c.2914T>G (p.Phe972Val) c.2749T>G (p.Phe917Val) c.2860T>G (p.Phe954Val) c.2803T>G (p.Phe935Val) c.2688T>G c.*974T>G (n.*974T>G) c.2431T>G (p.Phe811Val) c.*2830T>G (n.*2830T>G) c.2336T>G c.*1233T>G (n.*1233T>G) c.2743T>G c.2764T>G (p.Phe922Val) c.*2227T>G (n.*2227T>G) c.*1350T>G (n.*1350T>G) c.1737T>G c.2641T>G (p.Phe881Val) c.2752T>G (p.Phe918Val) c.2806T>G (p.Phe936Val) c.36T>G c.325T>G (p.Phe109Val) c.2695T>G (p.Phe899Val) n.582+1709A>C c.2380T>G (p.Phe794Val) c.2377T>G (p.Phe793Val) n.3168T>G n.3003T>G n.600+1709A>C n.475+3597A>C | |
| 3 | g.193667212T>A | CA355797385 | OPA1 | c.2915T>A (p.Phe972Tyr) c.2750T>A (p.Phe917Tyr) c.2861T>A (p.Phe954Tyr) c.2804T>A (p.Phe935Tyr) c.2689T>A c.*975T>A (n.*975T>A) c.2432T>A (p.Phe811Tyr) c.*2831T>A (n.*2831T>A) c.2337T>A c.*1234T>A (n.*1234T>A) c.2744T>A c.2765T>A (p.Phe922Tyr) c.*2228T>A (n.*2228T>A) c.*1351T>A (n.*1351T>A) c.1738T>A c.2642T>A (p.Phe881Tyr) c.2753T>A (p.Phe918Tyr) c.2807T>A (p.Phe936Tyr) c.37T>A c.326T>A (p.Phe109Tyr) c.2696T>A (p.Phe899Tyr) n.582+1708A>T c.2381T>A (p.Phe794Tyr) c.2378T>A (p.Phe793Tyr) n.3169T>A n.3004T>A n.600+1708A>T n.475+3596A>T | dbSNP |
| 3 | g.193667212T>C | CA355797388 | OPA1 | c.2915T>C (p.Phe972Ser) c.2750T>C (p.Phe917Ser) c.2861T>C (p.Phe954Ser) c.2804T>C (p.Phe935Ser) c.2689T>C c.*975T>C (n.*975T>C) c.2432T>C (p.Phe811Ser) c.*2831T>C (n.*2831T>C) c.2337T>C c.*1234T>C (n.*1234T>C) c.2744T>C c.2765T>C (p.Phe922Ser) c.*2228T>C (n.*2228T>C) c.*1351T>C (n.*1351T>C) c.1738T>C c.2642T>C (p.Phe881Ser) c.2753T>C (p.Phe918Ser) c.2807T>C (p.Phe936Ser) c.37T>C c.326T>C (p.Phe109Ser) c.2696T>C (p.Phe899Ser) n.582+1708A>G c.2381T>C (p.Phe794Ser) c.2378T>C (p.Phe793Ser) n.3169T>C n.3004T>C n.600+1708A>G n.475+3596A>G | |
| 3 | g.193667212T>G | CA355797382 | OPA1 | c.2915T>G (p.Phe972Cys) c.2750T>G (p.Phe917Cys) c.2861T>G (p.Phe954Cys) c.2804T>G (p.Phe935Cys) c.2689T>G c.*975T>G (n.*975T>G) c.2432T>G (p.Phe811Cys) c.*2831T>G (n.*2831T>G) c.2337T>G c.*1234T>G (n.*1234T>G) c.2744T>G c.2765T>G (p.Phe922Cys) c.*2228T>G (n.*2228T>G) c.*1351T>G (n.*1351T>G) c.1738T>G c.2642T>G (p.Phe881Cys) c.2753T>G (p.Phe918Cys) c.2807T>G (p.Phe936Cys) c.37T>G c.326T>G (p.Phe109Cys) c.2696T>G (p.Phe899Cys) n.582+1708A>C c.2381T>G (p.Phe794Cys) c.2378T>G (p.Phe793Cys) n.3169T>G n.3004T>G n.600+1708A>C n.475+3596A>C | |
| 3 | g.193667212T= | CA1430233564 | OPA1 | c.2915T= (p.Phe972=) c.2750T= (p.Phe917=) c.2861T= (p.Phe954=) c.2804T= (p.Phe935=) c.2689T= c.*975T= (n.*975T=) c.2432T= (p.Phe811=) c.*2831T= (n.*2831T=) c.2337T= c.*1234T= (n.*1234T=) c.2744T= c.2765T= (p.Phe922=) c.*2228T= (n.*2228T=) c.*1351T= (n.*1351T=) c.1738T= c.2642T= (p.Phe881=) c.2753T= (p.Phe918=) c.2807T= (p.Phe936=) c.37T= c.326T= (p.Phe109=) c.2696T= (p.Phe899=) n.582+1708A= c.2381T= (p.Phe794=) c.2378T= (p.Phe793=) n.3169T= n.3004T= n.600+1708A= n.475+3596A= | |
| 3 | g.193667213T>A | CA355797391 | OPA1 | c.2916T>A (p.Phe972Leu) c.2751T>A (p.Phe917Leu) c.2862T>A (p.Phe954Leu) c.2805T>A (p.Phe935Leu) c.2690T>A c.*976T>A (n.*976T>A) c.2433T>A (p.Phe811Leu) c.*2832T>A (n.*2832T>A) c.2338T>A c.*1235T>A (n.*1235T>A) c.2745T>A c.2766T>A (p.Phe922Leu) c.*2229T>A (n.*2229T>A) c.*1352T>A (n.*1352T>A) c.1739T>A c.2643T>A (p.Phe881Leu) c.2754T>A (p.Phe918Leu) c.2808T>A (p.Phe936Leu) c.38T>A c.327T>A (p.Phe109Leu) c.2697T>A (p.Phe899Leu) n.582+1707A>T c.2382T>A (p.Phe794Leu) c.2379T>A (p.Phe793Leu) n.3170T>A n.3005T>A n.600+1707A>T n.475+3595A>T | |
| 3 | g.193667213T>C | CA437441968 | OPA1 | c.2916T>C (p.Phe972=) c.2751T>C (p.Phe917=) c.2862T>C (p.Phe954=) c.2805T>C (p.Phe935=) c.2690T>C c.*976T>C (n.*976T>C) c.2433T>C (p.Phe811=) c.*2832T>C (n.*2832T>C) c.2338T>C c.*1235T>C (n.*1235T>C) c.2745T>C c.2766T>C (p.Phe922=) c.*2229T>C (n.*2229T>C) c.*1352T>C (n.*1352T>C) c.1739T>C c.2643T>C (p.Phe881=) c.2754T>C (p.Phe918=) c.2808T>C (p.Phe936=) c.38T>C c.327T>C (p.Phe109=) c.2697T>C (p.Phe899=) n.582+1707A>G c.2382T>C (p.Phe794=) c.2379T>C (p.Phe793=) n.3170T>C n.3005T>C n.600+1707A>G n.475+3595A>G | |
| 3 | g.193667213T>G | CA355797392 | OPA1 | c.2916T>G (p.Phe972Leu) c.2751T>G (p.Phe917Leu) c.2862T>G (p.Phe954Leu) c.2805T>G (p.Phe935Leu) c.2690T>G c.*976T>G (n.*976T>G) c.2433T>G (p.Phe811Leu) c.*2832T>G (n.*2832T>G) c.2338T>G c.*1235T>G (n.*1235T>G) c.2745T>G c.2766T>G (p.Phe922Leu) c.*2229T>G (n.*2229T>G) c.*1352T>G (n.*1352T>G) c.1739T>G c.2643T>G (p.Phe881Leu) c.2754T>G (p.Phe918Leu) c.2808T>G (p.Phe936Leu) c.38T>G c.327T>G (p.Phe109Leu) c.2697T>G (p.Phe899Leu) n.582+1707A>C c.2382T>G (p.Phe794Leu) c.2379T>G (p.Phe793Leu) n.3170T>G n.3005T>G n.600+1707A>C n.475+3595A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.193667213T= | CA1430233570 | OPA1 | c.2916T= (p.Phe972=) c.2751T= (p.Phe917=) c.2862T= (p.Phe954=) c.2805T= (p.Phe935=) c.2690T= c.*976T= (n.*976T=) c.2433T= (p.Phe811=) c.*2832T= (n.*2832T=) c.2338T= c.*1235T= (n.*1235T=) c.2745T= c.2766T= (p.Phe922=) c.*2229T= (n.*2229T=) c.*1352T= (n.*1352T=) c.1739T= c.2643T= (p.Phe881=) c.2754T= (p.Phe918=) c.2808T= (p.Phe936=) c.38T= c.327T= (p.Phe109=) c.2697T= (p.Phe899=) n.582+1707A= c.2382T= (p.Phe794=) c.2379T= (p.Phe793=) n.3170T= n.3005T= n.600+1707A= n.475+3595A= | |
| 3 | g.193667214G>A | CA355797393 | OPA1 | c.2917G>A (p.Ala973Thr) c.2752G>A (p.Ala918Thr) c.2863G>A (p.Ala955Thr) c.2806G>A (p.Ala936Thr) c.2691G>A c.*977G>A (n.*977G>A) c.2434G>A (p.Ala812Thr) c.*2833G>A (n.*2833G>A) c.2339G>A c.*1236G>A (n.*1236G>A) c.2746G>A c.2767G>A (p.Ala923Thr) c.*2230G>A (n.*2230G>A) c.*1353G>A (n.*1353G>A) c.1740G>A c.2644G>A (p.Ala882Thr) c.2755G>A (p.Ala919Thr) c.2809G>A (p.Ala937Thr) c.39G>A c.328G>A (p.Ala110Thr) c.2698G>A (p.Ala900Thr) n.582+1706C>T c.2383G>A (p.Ala795Thr) c.2380G>A (p.Ala794Thr) n.3171G>A n.3006G>A n.600+1706C>T n.475+3594C>T | |
| 3 | g.193667214G>C | CA355797395 | OPA1 | c.2917G>C (p.Ala973Pro) c.2752G>C (p.Ala918Pro) c.2863G>C (p.Ala955Pro) c.2806G>C (p.Ala936Pro) c.2691G>C c.*977G>C (n.*977G>C) c.2434G>C (p.Ala812Pro) c.*2833G>C (n.*2833G>C) c.2339G>C c.*1236G>C (n.*1236G>C) c.2746G>C c.2767G>C (p.Ala923Pro) c.*2230G>C (n.*2230G>C) c.*1353G>C (n.*1353G>C) c.1740G>C c.2644G>C (p.Ala882Pro) c.2755G>C (p.Ala919Pro) c.2809G>C (p.Ala937Pro) c.39G>C c.328G>C (p.Ala110Pro) c.2698G>C (p.Ala900Pro) n.582+1706C>G c.2383G>C (p.Ala795Pro) c.2380G>C (p.Ala794Pro) n.3171G>C n.3006G>C n.600+1706C>G n.475+3594C>G | |
| 3 | g.193667214G>T | CA355797397 | OPA1 | c.2917G>T (p.Ala973Ser) c.2752G>T (p.Ala918Ser) c.2863G>T (p.Ala955Ser) c.2806G>T (p.Ala936Ser) c.2691G>T c.*977G>T (n.*977G>T) c.2434G>T (p.Ala812Ser) c.*2833G>T (n.*2833G>T) c.2339G>T c.*1236G>T (n.*1236G>T) c.2746G>T c.2767G>T (p.Ala923Ser) c.*2230G>T (n.*2230G>T) c.*1353G>T (n.*1353G>T) c.1740G>T c.2644G>T (p.Ala882Ser) c.2755G>T (p.Ala919Ser) c.2809G>T (p.Ala937Ser) c.39G>T c.328G>T (p.Ala110Ser) c.2698G>T (p.Ala900Ser) n.582+1706C>A c.2383G>T (p.Ala795Ser) c.2380G>T (p.Ala794Ser) n.3171G>T n.3006G>T n.600+1706C>A n.475+3594C>A | |
| 3 | g.193667215C>A | CA355797404 | OPA1 | c.2918C>A (p.Ala973Asp) c.2753C>A (p.Ala918Asp) c.2864C>A (p.Ala955Asp) c.2807C>A (p.Ala936Asp) c.2692C>A c.*978C>A (n.*978C>A) c.2435C>A (p.Ala812Asp) c.*2834C>A (n.*2834C>A) c.2340C>A c.*1237C>A (n.*1237C>A) c.2747C>A c.2768C>A (p.Ala923Asp) c.*2231C>A (n.*2231C>A) c.*1354C>A (n.*1354C>A) c.1741C>A c.2645C>A (p.Ala882Asp) c.2756C>A (p.Ala919Asp) c.2810C>A (p.Ala937Asp) c.40C>A c.329C>A (p.Ala110Asp) c.2699C>A (p.Ala900Asp) n.582+1705G>T c.2384C>A (p.Ala795Asp) c.2381C>A (p.Ala794Asp) n.3172C>A n.3007C>A n.600+1705G>T n.475+3593G>T | gnomAD v4 |
| 3 | g.193667215C>G | CA355797406 | OPA1 | c.2918C>G (p.Ala973Gly) c.2753C>G (p.Ala918Gly) c.2864C>G (p.Ala955Gly) c.2807C>G (p.Ala936Gly) c.2692C>G c.*978C>G (n.*978C>G) c.2435C>G (p.Ala812Gly) c.*2834C>G (n.*2834C>G) c.2340C>G c.*1237C>G (n.*1237C>G) c.2747C>G c.2768C>G (p.Ala923Gly) c.*2231C>G (n.*2231C>G) c.*1354C>G (n.*1354C>G) c.1741C>G c.2645C>G (p.Ala882Gly) c.2756C>G (p.Ala919Gly) c.2810C>G (p.Ala937Gly) c.40C>G c.329C>G (p.Ala110Gly) c.2699C>G (p.Ala900Gly) n.582+1705G>C c.2384C>G (p.Ala795Gly) c.2381C>G (p.Ala794Gly) n.3172C>G n.3007C>G n.600+1705G>C n.475+3593G>C | |
| 3 | g.193667215C>T | CA355797407 | OPA1 | c.2918C>T (p.Ala973Val) c.2753C>T (p.Ala918Val) c.2864C>T (p.Ala955Val) c.2807C>T (p.Ala936Val) c.2692C>T c.*978C>T (n.*978C>T) c.2435C>T (p.Ala812Val) c.*2834C>T (n.*2834C>T) c.2340C>T c.*1237C>T (n.*1237C>T) c.2747C>T c.2768C>T (p.Ala923Val) c.*2231C>T (n.*2231C>T) c.*1354C>T (n.*1354C>T) c.1741C>T c.2645C>T (p.Ala882Val) c.2756C>T (p.Ala919Val) c.2810C>T (p.Ala937Val) c.40C>T c.329C>T (p.Ala110Val) c.2699C>T (p.Ala900Val) n.582+1705G>A c.2384C>T (p.Ala795Val) c.2381C>T (p.Ala794Val) n.3172C>T n.3007C>T n.600+1705G>A n.475+3593G>A | |
| 3 | g.193667216T>A | CA437441969 | OPA1 | c.2919T>A (p.Ala973=) c.2754T>A (p.Ala918=) c.2865T>A (p.Ala955=) c.2808T>A (p.Ala936=) c.2693T>A c.*979T>A (n.*979T>A) c.2436T>A (p.Ala812=) c.*2835T>A (n.*2835T>A) c.2341T>A c.*1238T>A (n.*1238T>A) c.2748T>A c.2769T>A (p.Ala923=) c.*2232T>A (n.*2232T>A) c.*1355T>A (n.*1355T>A) c.1742T>A c.2646T>A (p.Ala882=) c.2757T>A (p.Ala919=) c.2811T>A (p.Ala937=) c.41T>A c.330T>A (p.Ala110=) c.2700T>A (p.Ala900=) n.582+1704A>T c.2385T>A (p.Ala795=) c.2382T>A (p.Ala794=) n.3173T>A n.3008T>A n.600+1704A>T n.475+3592A>T | |
| 3 | g.193667216T>C | CA437441970 | OPA1 | c.2919T>C (p.Ala973=) c.2754T>C (p.Ala918=) c.2865T>C (p.Ala955=) c.2808T>C (p.Ala936=) c.2693T>C c.*979T>C (n.*979T>C) c.2436T>C (p.Ala812=) c.*2835T>C (n.*2835T>C) c.2341T>C c.*1238T>C (n.*1238T>C) c.2748T>C c.2769T>C (p.Ala923=) c.*2232T>C (n.*2232T>C) c.*1355T>C (n.*1355T>C) c.1742T>C c.2646T>C (p.Ala882=) c.2757T>C (p.Ala919=) c.2811T>C (p.Ala937=) c.41T>C c.330T>C (p.Ala110=) c.2700T>C (p.Ala900=) n.582+1704A>G c.2385T>C (p.Ala795=) c.2382T>C (p.Ala794=) n.3173T>C n.3008T>C n.600+1704A>G n.475+3592A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193667216T>G | CA437441971 | OPA1 | c.2919T>G (p.Ala973=) c.2754T>G (p.Ala918=) c.2865T>G (p.Ala955=) c.2808T>G (p.Ala936=) c.2693T>G c.*979T>G (n.*979T>G) c.2436T>G (p.Ala812=) c.*2835T>G (n.*2835T>G) c.2341T>G c.*1238T>G (n.*1238T>G) c.2748T>G c.2769T>G (p.Ala923=) c.*2232T>G (n.*2232T>G) c.*1355T>G (n.*1355T>G) c.1742T>G c.2646T>G (p.Ala882=) c.2757T>G (p.Ala919=) c.2811T>G (p.Ala937=) c.41T>G c.330T>G (p.Ala110=) c.2700T>G (p.Ala900=) n.582+1704A>C c.2385T>G (p.Ala795=) c.2382T>G (p.Ala794=) n.3173T>G n.3008T>G n.600+1704A>C n.475+3592A>C | |
| 3 | g.193667216T= | CA1430233575 | OPA1 | c.2919T= (p.Ala973=) c.2754T= (p.Ala918=) c.2865T= (p.Ala955=) c.2808T= (p.Ala936=) c.2693T= c.*979T= (n.*979T=) c.2436T= (p.Ala812=) c.*2835T= (n.*2835T=) c.2341T= c.*1238T= (n.*1238T=) c.2748T= c.2769T= (p.Ala923=) c.*2232T= (n.*2232T=) c.*1355T= (n.*1355T=) c.1742T= c.2646T= (p.Ala882=) c.2757T= (p.Ala919=) c.2811T= (p.Ala937=) c.41T= c.330T= (p.Ala110=) c.2700T= (p.Ala900=) n.582+1704A= c.2385T= (p.Ala795=) c.2382T= (p.Ala794=) n.3173T= n.3008T= n.600+1704A= n.475+3592A= | |
| 3 | g.193667216_193667230delinsTGAAGATGGTGAGAA | CA1430233578 | OPA1 | c.2919_2933delinsTGAAGATGGTGAGAA (p.Ala973=) c.2754_2768delinsTGAAGATGGTGAGAA (p.Ala918=) c.2865_2879delinsTGAAGATGGTGAGAA (p.Ala955=) c.2808_2822delinsTGAAGATGGTGAGAA (p.Ala936=) c.2693_2707delinsTGAAGATGGTGAGAA c.*979_*993delinsTGAAGATGGTGAGAA (n.*979_*993delinsTGAAGATGGTGAGAA) c.2436_2450delinsTGAAGATGGTGAGAA (p.Ala812=) c.*2835_*2849delinsTGAAGATGGTGAGAA (n.*2835_*2849delinsTGAAGATGGTGAGAA) c.2341_2355delinsTGAAGATGGTGAGAA c.*1238_*1252delinsTGAAGATGGTGAGAA (n.*1238_*1252delinsTGAAGATGGTGAGAA) c.2748_2762delinsTGAAGATGGTGAGAA c.2769_2783delinsTGAAGATGGTGAGAA (p.Ala923=) c.*2232_*2246delinsTGAAGATGGTGAGAA (n.*2232_*2246delinsTGAAGATGGTGAGAA) c.*1355_*1369delinsTGAAGATGGTGAGAA (n.*1355_*1369delinsTGAAGATGGTGAGAA) c.1742_1756delinsTGAAGATGGTGAGAA c.2646_2660delinsTGAAGATGGTGAGAA (p.Ala882=) c.2757_2771delinsTGAAGATGGTGAGAA (p.Ala919=) c.2811_2825delinsTGAAGATGGTGAGAA (p.Ala937=) c.41_55delinsTGAAGATGGTGAGAA c.330_344delinsTGAAGATGGTGAGAA (p.Ala110=) c.2700_2714delinsTGAAGATGGTGAGAA (p.Ala900=) n.582+1690_582+1704delinsTTCTCACCATCTTCA c.2385_2399delinsTGAAGATGGTGAGAA (p.Ala795=) c.2382_2396delinsTGAAGATGGTGAGAA (p.Ala794=) n.3173_3187delinsTGAAGATGGTGAGAA n.3008_3022delinsTGAAGATGGTGAGAA n.600+1690_600+1704delinsTTCTCACCATCTTCA n.475+3578_475+3592delinsTTCTCACCATCTTCA | |
| 3 | g.193667216_193667217insAATACTTTTCATAGTCATA | CA2529918096 | OPA1 | c.2919_2920insAATACTTTTCATAGTCATA (p.Glu974AsnfsTer10) c.2754_2755insAATACTTTTCATAGTCATA (p.Glu919AsnfsTer10) c.2865_2866insAATACTTTTCATAGTCATA (p.Glu956AsnfsTer10) c.2808_2809insAATACTTTTCATAGTCATA (p.Glu937AsnfsTer10) c.2693_2694insAATACTTTTCATAGTCATA c.*979_*980insAATACTTTTCATAGTCATA (n.*979_*980insAATACTTTTCATAGTCATA) c.2436_2437insAATACTTTTCATAGTCATA (p.Glu813AsnfsTer10) c.*2835_*2836insAATACTTTTCATAGTCATA (n.*2835_*2836insAATACTTTTCATAGTCATA) c.2341_2342insAATACTTTTCATAGTCATA c.*1238_*1239insAATACTTTTCATAGTCATA (n.*1238_*1239insAATACTTTTCATAGTCATA) c.2748_2749insAATACTTTTCATAGTCATA c.2769_2770insAATACTTTTCATAGTCATA (p.Glu924AsnfsTer10) c.*2232_*2233insAATACTTTTCATAGTCATA (n.*2232_*2233insAATACTTTTCATAGTCATA) c.*1355_*1356insAATACTTTTCATAGTCATA (n.*1355_*1356insAATACTTTTCATAGTCATA) c.1742_1743insAATACTTTTCATAGTCATA c.2646_2647insAATACTTTTCATAGTCATA (p.Glu883AsnfsTer10) c.2757_2758insAATACTTTTCATAGTCATA (p.Glu920AsnfsTer10) c.2811_2812insAATACTTTTCATAGTCATA (p.Glu938AsnfsTer10) c.41_42insAATACTTTTCATAGTCATA c.330_331insAATACTTTTCATAGTCATA (p.Glu111AsnfsTer10) c.2700_2701insAATACTTTTCATAGTCATA (p.Glu901AsnfsTer10) n.582+1703_582+1704insTATGACTATGAAAAGTATT c.2385_2386insAATACTTTTCATAGTCATA (p.Glu796AsnfsTer10) c.2382_2383insAATACTTTTCATAGTCATA (p.Glu795AsnfsTer10) n.3173_3174insAATACTTTTCATAGTCATA n.3008_3009insAATACTTTTCATAGTCATA n.600+1703_600+1704insTATGACTATGAAAAGTATT n.475+3591_475+3592insTATGACTATGAAAAGTATT | |
| 3 | g.193667217G>A | CA355797410 | OPA1 | c.2920G>A (p.Glu974Lys) c.2755G>A (p.Glu919Lys) c.2866G>A (p.Glu956Lys) c.2809G>A (p.Glu937Lys) c.2694G>A c.*980G>A (n.*980G>A) c.2437G>A (p.Glu813Lys) c.*2836G>A (n.*2836G>A) c.2342G>A c.*1239G>A (n.*1239G>A) c.2749G>A c.2770G>A (p.Glu924Lys) c.*2233G>A (n.*2233G>A) c.*1356G>A (n.*1356G>A) c.1743G>A c.2647G>A (p.Glu883Lys) c.2758G>A (p.Glu920Lys) c.2812G>A (p.Glu938Lys) c.42G>A c.331G>A (p.Glu111Lys) c.2701G>A (p.Glu901Lys) n.582+1703C>T c.2386G>A (p.Glu796Lys) c.2383G>A (p.Glu795Lys) n.3174G>A n.3009G>A n.600+1703C>T n.475+3591C>T | COSMIC |
| 3 | g.193667217G>C | CA355797412 | OPA1 | c.2920G>C (p.Glu974Gln) c.2755G>C (p.Glu919Gln) c.2866G>C (p.Glu956Gln) c.2809G>C (p.Glu937Gln) c.2694G>C c.*980G>C (n.*980G>C) c.2437G>C (p.Glu813Gln) c.*2836G>C (n.*2836G>C) c.2342G>C c.*1239G>C (n.*1239G>C) c.2749G>C c.2770G>C (p.Glu924Gln) c.*2233G>C (n.*2233G>C) c.*1356G>C (n.*1356G>C) c.1743G>C c.2647G>C (p.Glu883Gln) c.2758G>C (p.Glu920Gln) c.2812G>C (p.Glu938Gln) c.42G>C c.331G>C (p.Glu111Gln) c.2701G>C (p.Glu901Gln) n.582+1703C>G c.2386G>C (p.Glu796Gln) c.2383G>C (p.Glu795Gln) n.3174G>C n.3009G>C n.600+1703C>G n.475+3591C>G | |
| 3 | g.193667217G>T | CA355797415 | OPA1 | c.2920G>T (p.Glu974Ter) c.2755G>T (p.Glu919Ter) c.2866G>T (p.Glu956Ter) c.2809G>T (p.Glu937Ter) c.2694G>T c.*980G>T (n.*980G>T) c.2437G>T (p.Glu813Ter) c.*2836G>T (n.*2836G>T) c.2342G>T c.*1239G>T (n.*1239G>T) c.2749G>T c.2770G>T (p.Glu924Ter) c.*2233G>T (n.*2233G>T) c.*1356G>T (n.*1356G>T) c.1743G>T c.2647G>T (p.Glu883Ter) c.2758G>T (p.Glu920Ter) c.2812G>T (p.Glu938Ter) c.42G>T c.331G>T (p.Glu111Ter) c.2701G>T (p.Glu901Ter) n.582+1703C>A c.2386G>T (p.Glu796Ter) c.2383G>T (p.Glu795Ter) n.3174G>T n.3009G>T n.600+1703C>A n.475+3591C>A | |
| 3 | g.193667223_193667236del | CA658683375 | OPA1 | c.2926_2939del (p.Gly976Ter) c.2761_2774del (p.Gly921Ter) c.2872_2885del (p.Gly958Ter) c.2815_2828del (p.Gly939Ter) c.2700_2713del c.*986_*999del (n.*986_*999del) c.2443_2456del (p.Gly815Ter) c.*2842_*2855del (n.*2842_*2855del) c.2348_2361del c.*1245_*1258del (n.*1245_*1258del) c.2755_2768del c.2776_2789del (p.Gly926Ter) c.*2239_*2252del (n.*2239_*2252del) c.*1362_*1375del (n.*1362_*1375del) c.1749_1762del c.2653_2666del (p.Gly885Ter) c.2764_2777del (p.Gly922Ter) c.2818_2831del (p.Gly940Ter) c.48_61del c.337_350del (p.Gly113Ter) c.2707_2720del (p.Gly903Ter) n.582+1690_582+1703del c.2392_2405del (p.Gly798Ter) c.2389_2402del (p.Gly797Ter) n.3180_3193del n.3015_3028del n.600+1690_600+1703del n.475+3578_475+3591del | ClinVar dbSNP |
| 3 | g.193667218A>C | CA355797417 | OPA1 | c.2921A>C (p.Glu974Ala) c.2756A>C (p.Glu919Ala) c.2867A>C (p.Glu956Ala) c.2810A>C (p.Glu937Ala) c.2695A>C c.*981A>C (n.*981A>C) c.2438A>C (p.Glu813Ala) c.*2837A>C (n.*2837A>C) c.2343A>C c.*1240A>C (n.*1240A>C) c.2750A>C c.2771A>C (p.Glu924Ala) c.*2234A>C (n.*2234A>C) c.*1357A>C (n.*1357A>C) c.1744A>C c.2648A>C (p.Glu883Ala) c.2759A>C (p.Glu920Ala) c.2813A>C (p.Glu938Ala) c.43A>C c.332A>C (p.Glu111Ala) c.2702A>C (p.Glu901Ala) n.582+1702T>G c.2387A>C (p.Glu796Ala) c.2384A>C (p.Glu795Ala) n.3175A>C n.3010A>C n.600+1702T>G n.475+3590T>G | |
| 3 | g.193667218A>G | CA355797420 | OPA1 | c.2921A>G (p.Glu974Gly) c.2756A>G (p.Glu919Gly) c.2867A>G (p.Glu956Gly) c.2810A>G (p.Glu937Gly) c.2695A>G c.*981A>G (n.*981A>G) c.2438A>G (p.Glu813Gly) c.*2837A>G (n.*2837A>G) c.2343A>G c.*1240A>G (n.*1240A>G) c.2750A>G c.2771A>G (p.Glu924Gly) c.*2234A>G (n.*2234A>G) c.*1357A>G (n.*1357A>G) c.1744A>G c.2648A>G (p.Glu883Gly) c.2759A>G (p.Glu920Gly) c.2813A>G (p.Glu938Gly) c.43A>G c.332A>G (p.Glu111Gly) c.2702A>G (p.Glu901Gly) n.582+1702T>C c.2387A>G (p.Glu796Gly) c.2384A>G (p.Glu795Gly) n.3175A>G n.3010A>G n.600+1702T>C n.475+3590T>C | |
| 3 | g.193667218A>T | CA355797423 | OPA1 | c.2921A>T (p.Glu974Val) c.2756A>T (p.Glu919Val) c.2867A>T (p.Glu956Val) c.2810A>T (p.Glu937Val) c.2695A>T c.*981A>T (n.*981A>T) c.2438A>T (p.Glu813Val) c.*2837A>T (n.*2837A>T) c.2343A>T c.*1240A>T (n.*1240A>T) c.2750A>T c.2771A>T (p.Glu924Val) c.*2234A>T (n.*2234A>T) c.*1357A>T (n.*1357A>T) c.1744A>T c.2648A>T (p.Glu883Val) c.2759A>T (p.Glu920Val) c.2813A>T (p.Glu938Val) c.43A>T c.332A>T (p.Glu111Val) c.2702A>T (p.Glu901Val) n.582+1702T>A c.2387A>T (p.Glu796Val) c.2384A>T (p.Glu795Val) n.3175A>T n.3010A>T n.600+1702T>A n.475+3590T>A | |
| 3 | g.193667219A>C | CA355797433 | OPA1 | c.2922A>C (p.Glu974Asp) c.2757A>C (p.Glu919Asp) c.2868A>C (p.Glu956Asp) c.2811A>C (p.Glu937Asp) c.2696A>C c.*982A>C (n.*982A>C) c.2439A>C (p.Glu813Asp) c.*2838A>C (n.*2838A>C) c.2344A>C c.*1241A>C (n.*1241A>C) c.2751A>C c.2772A>C (p.Glu924Asp) c.*2235A>C (n.*2235A>C) c.*1358A>C (n.*1358A>C) c.1745A>C c.2649A>C (p.Glu883Asp) c.2760A>C (p.Glu920Asp) c.2814A>C (p.Glu938Asp) c.44A>C c.333A>C (p.Glu111Asp) c.2703A>C (p.Glu901Asp) n.582+1701T>G c.2388A>C (p.Glu796Asp) c.2385A>C (p.Glu795Asp) n.3176A>C n.3011A>C n.600+1701T>G n.475+3589T>G | |
| 3 | g.193667219A>G | CA437441972 | OPA1 | c.2922A>G (p.Glu974=) c.2757A>G (p.Glu919=) c.2868A>G (p.Glu956=) c.2811A>G (p.Glu937=) c.2696A>G c.*982A>G (n.*982A>G) c.2439A>G (p.Glu813=) c.*2838A>G (n.*2838A>G) c.2344A>G c.*1241A>G (n.*1241A>G) c.2751A>G c.2772A>G (p.Glu924=) c.*2235A>G (n.*2235A>G) c.*1358A>G (n.*1358A>G) c.1745A>G c.2649A>G (p.Glu883=) c.2760A>G (p.Glu920=) c.2814A>G (p.Glu938=) c.44A>G c.333A>G (p.Glu111=) c.2703A>G (p.Glu901=) n.582+1701T>C c.2388A>G (p.Glu796=) c.2385A>G (p.Glu795=) n.3176A>G n.3011A>G n.600+1701T>C n.475+3589T>C | |
| 3 | g.193667219A>T | CA355797429 | OPA1 | c.2922A>T (p.Glu974Asp) c.2757A>T (p.Glu919Asp) c.2868A>T (p.Glu956Asp) c.2811A>T (p.Glu937Asp) c.2696A>T c.*982A>T (n.*982A>T) c.2439A>T (p.Glu813Asp) c.*2838A>T (n.*2838A>T) c.2344A>T c.*1241A>T (n.*1241A>T) c.2751A>T c.2772A>T (p.Glu924Asp) c.*2235A>T (n.*2235A>T) c.*1358A>T (n.*1358A>T) c.1745A>T c.2649A>T (p.Glu883Asp) c.2760A>T (p.Glu920Asp) c.2814A>T (p.Glu938Asp) c.44A>T c.333A>T (p.Glu111Asp) c.2703A>T (p.Glu901Asp) n.582+1701T>A c.2388A>T (p.Glu796Asp) c.2385A>T (p.Glu795Asp) n.3176A>T n.3011A>T n.600+1701T>A n.475+3589T>A | |
| 3 | g.193667219_193667220insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA | CA2509343006 | OPA1 | c.2922_2923insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA c.2757_2758insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA c.2868_2869insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA c.2811_2812insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA c.2696_2697insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA c.*982_*983insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA (n.*982_*983insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA) c.2439_2440insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA c.*2838_*2839insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA (n.*2838_*2839insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA) c.2344_2345insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA c.*1241_*1242insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA (n.*1241_*1242insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA) c.2751_2752insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA c.2772_2773insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA c.*2235_*2236insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA (n.*2235_*2236insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA) c.*1358_*1359insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA (n.*1358_*1359insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA) c.1745_1746insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA c.2649_2650insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA c.2760_2761insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA c.2814_2815insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA c.44_45insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA c.333_334insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA c.2703_2704insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA n.582+1701_582+1702insCTGAGACTATATAGGTTTCATGCTGATAAAACTACTGTATAACAGAGATTT c.2388_2389insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA c.2385_2386insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA n.3176_3177insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA n.3011_3012insAATCTCTGTTATACAGTAGTTTTATCAGCATGAAACCTATATAGTCTCAGA n.600+1701_600+1702insCTGAGACTATATAGGTTTCATGCTGATAAAACTACTGTATAACAGAGATTT n.475+3589_475+3590insCTGAGACTATATAGGTTTCATGCTGATAAAACTACTGTATAACAGAGATTT | |
| 3 | g.193667220G>A | CA355797436 | OPA1 | c.2923G>A (p.Asp975Asn) c.2758G>A (p.Asp920Asn) c.2869G>A (p.Asp957Asn) c.2812G>A (p.Asp938Asn) c.2697G>A c.*983G>A (n.*983G>A) c.2440G>A (p.Asp814Asn) c.*2839G>A (n.*2839G>A) c.2345G>A c.*1242G>A (n.*1242G>A) c.2752G>A c.2773G>A (p.Asp925Asn) c.*2236G>A (n.*2236G>A) c.*1359G>A (n.*1359G>A) c.1746G>A c.2650G>A (p.Asp884Asn) c.2761G>A (p.Asp921Asn) c.2815G>A (p.Asp939Asn) c.45G>A c.334G>A (p.Asp112Asn) c.2704G>A (p.Asp902Asn) n.582+1700C>T c.2389G>A (p.Asp797Asn) c.2386G>A (p.Asp796Asn) n.3177G>A n.3012G>A n.600+1700C>T n.475+3588C>T | gnomAD v4 |
| 3 | g.193667220G>C | CA355797438 | OPA1 | c.2923G>C (p.Asp975His) c.2758G>C (p.Asp920His) c.2869G>C (p.Asp957His) c.2812G>C (p.Asp938His) c.2697G>C c.*983G>C (n.*983G>C) c.2440G>C (p.Asp814His) c.*2839G>C (n.*2839G>C) c.2345G>C c.*1242G>C (n.*1242G>C) c.2752G>C c.2773G>C (p.Asp925His) c.*2236G>C (n.*2236G>C) c.*1359G>C (n.*1359G>C) c.1746G>C c.2650G>C (p.Asp884His) c.2761G>C (p.Asp921His) c.2815G>C (p.Asp939His) c.45G>C c.334G>C (p.Asp112His) c.2704G>C (p.Asp902His) n.582+1700C>G c.2389G>C (p.Asp797His) c.2386G>C (p.Asp796His) n.3177G>C n.3012G>C n.600+1700C>G n.475+3588C>G | |
| 3 | g.193667220G>T | CA355797440 | OPA1 | c.2923G>T (p.Asp975Tyr) c.2758G>T (p.Asp920Tyr) c.2869G>T (p.Asp957Tyr) c.2812G>T (p.Asp938Tyr) c.2697G>T c.*983G>T (n.*983G>T) c.2440G>T (p.Asp814Tyr) c.*2839G>T (n.*2839G>T) c.2345G>T c.*1242G>T (n.*1242G>T) c.2752G>T c.2773G>T (p.Asp925Tyr) c.*2236G>T (n.*2236G>T) c.*1359G>T (n.*1359G>T) c.1746G>T c.2650G>T (p.Asp884Tyr) c.2761G>T (p.Asp921Tyr) c.2815G>T (p.Asp939Tyr) c.45G>T c.334G>T (p.Asp112Tyr) c.2704G>T (p.Asp902Tyr) n.582+1700C>A c.2389G>T (p.Asp797Tyr) c.2386G>T (p.Asp796Tyr) n.3177G>T n.3012G>T n.600+1700C>A n.475+3588C>A | |
| 3 | g.193667221A= | CA1430233602 | OPA1 | c.2924A= (p.Asp975=) c.2759A= (p.Asp920=) c.2870A= (p.Asp957=) c.2813A= (p.Asp938=) c.2698A= c.*984A= (n.*984A=) c.2441A= (p.Asp814=) c.*2840A= (n.*2840A=) c.2346A= c.*1243A= (n.*1243A=) c.2753A= c.2774A= (p.Asp925=) c.*2237A= (n.*2237A=) c.*1360A= (n.*1360A=) c.1747A= c.2651A= (p.Asp884=) c.2762A= (p.Asp921=) c.2816A= (p.Asp939=) c.46A= c.335A= (p.Asp112=) c.2705A= (p.Asp902=) n.582+1699T= c.2390A= (p.Asp797=) c.2387A= (p.Asp796=) n.3178A= n.3013A= n.600+1699T= n.475+3587T= | |
| 3 | g.193667221A>C | CA355797441 | OPA1 | c.2924A>C (p.Asp975Ala) c.2759A>C (p.Asp920Ala) c.2870A>C (p.Asp957Ala) c.2813A>C (p.Asp938Ala) c.2698A>C c.*984A>C (n.*984A>C) c.2441A>C (p.Asp814Ala) c.*2840A>C (n.*2840A>C) c.2346A>C c.*1243A>C (n.*1243A>C) c.2753A>C c.2774A>C (p.Asp925Ala) c.*2237A>C (n.*2237A>C) c.*1360A>C (n.*1360A>C) c.1747A>C c.2651A>C (p.Asp884Ala) c.2762A>C (p.Asp921Ala) c.2816A>C (p.Asp939Ala) c.46A>C c.335A>C (p.Asp112Ala) c.2705A>C (p.Asp902Ala) n.582+1699T>G c.2390A>C (p.Asp797Ala) c.2387A>C (p.Asp796Ala) n.3178A>C n.3013A>C n.600+1699T>G n.475+3587T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.193667221A>G | CA355797442 | OPA1 | c.2924A>G (p.Asp975Gly) c.2759A>G (p.Asp920Gly) c.2870A>G (p.Asp957Gly) c.2813A>G (p.Asp938Gly) c.2698A>G c.*984A>G (n.*984A>G) c.2441A>G (p.Asp814Gly) c.*2840A>G (n.*2840A>G) c.2346A>G c.*1243A>G (n.*1243A>G) c.2753A>G c.2774A>G (p.Asp925Gly) c.*2237A>G (n.*2237A>G) c.*1360A>G (n.*1360A>G) c.1747A>G c.2651A>G (p.Asp884Gly) c.2762A>G (p.Asp921Gly) c.2816A>G (p.Asp939Gly) c.46A>G c.335A>G (p.Asp112Gly) c.2705A>G (p.Asp902Gly) n.582+1699T>C c.2390A>G (p.Asp797Gly) c.2387A>G (p.Asp796Gly) n.3178A>G n.3013A>G n.600+1699T>C n.475+3587T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.193667221A>T | CA355797443 | OPA1 | c.2924A>T (p.Asp975Val) c.2759A>T (p.Asp920Val) c.2870A>T (p.Asp957Val) c.2813A>T (p.Asp938Val) c.2698A>T c.*984A>T (n.*984A>T) c.2441A>T (p.Asp814Val) c.*2840A>T (n.*2840A>T) c.2346A>T c.*1243A>T (n.*1243A>T) c.2753A>T c.2774A>T (p.Asp925Val) c.*2237A>T (n.*2237A>T) c.*1360A>T (n.*1360A>T) c.1747A>T c.2651A>T (p.Asp884Val) c.2762A>T (p.Asp921Val) c.2816A>T (p.Asp939Val) c.46A>T c.335A>T (p.Asp112Val) c.2705A>T (p.Asp902Val) n.582+1699T>A c.2390A>T (p.Asp797Val) c.2387A>T (p.Asp796Val) n.3178A>T n.3013A>T n.600+1699T>A n.475+3587T>A | |
| 3 | g.193667222T>A | CA355797447 | OPA1 | c.2925T>A (p.Asp975Glu) c.2760T>A (p.Asp920Glu) c.2871T>A (p.Asp957Glu) c.2814T>A (p.Asp938Glu) c.2699T>A c.*985T>A (n.*985T>A) c.2442T>A (p.Asp814Glu) c.*2841T>A (n.*2841T>A) c.2347T>A c.*1244T>A (n.*1244T>A) c.2754T>A c.2775T>A (p.Asp925Glu) c.*2238T>A (n.*2238T>A) c.*1361T>A (n.*1361T>A) c.1748T>A c.2652T>A (p.Asp884Glu) c.2763T>A (p.Asp921Glu) c.2817T>A (p.Asp939Glu) c.47T>A c.336T>A (p.Asp112Glu) c.2706T>A (p.Asp902Glu) n.582+1698A>T c.2391T>A (p.Asp797Glu) c.2388T>A (p.Asp796Glu) n.3179T>A n.3014T>A n.600+1698A>T n.475+3586A>T | |
| 3 | g.193667222T>C | CA437441973 | OPA1 | c.2925T>C (p.Asp975=) c.2760T>C (p.Asp920=) c.2871T>C (p.Asp957=) c.2814T>C (p.Asp938=) c.2699T>C c.*985T>C (n.*985T>C) c.2442T>C (p.Asp814=) c.*2841T>C (n.*2841T>C) c.2347T>C c.*1244T>C (n.*1244T>C) c.2754T>C c.2775T>C (p.Asp925=) c.*2238T>C (n.*2238T>C) c.*1361T>C (n.*1361T>C) c.1748T>C c.2652T>C (p.Asp884=) c.2763T>C (p.Asp921=) c.2817T>C (p.Asp939=) c.47T>C c.336T>C (p.Asp112=) c.2706T>C (p.Asp902=) n.582+1698A>G c.2391T>C (p.Asp797=) c.2388T>C (p.Asp796=) n.3179T>C n.3014T>C n.600+1698A>G n.475+3586A>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.193667222T>G | CA355797445 | OPA1 | c.2925T>G (p.Asp975Glu) c.2760T>G (p.Asp920Glu) c.2871T>G (p.Asp957Glu) c.2814T>G (p.Asp938Glu) c.2699T>G c.*985T>G (n.*985T>G) c.2442T>G (p.Asp814Glu) c.*2841T>G (n.*2841T>G) c.2347T>G c.*1244T>G (n.*1244T>G) c.2754T>G c.2775T>G (p.Asp925Glu) c.*2238T>G (n.*2238T>G) c.*1361T>G (n.*1361T>G) c.1748T>G c.2652T>G (p.Asp884Glu) c.2763T>G (p.Asp921Glu) c.2817T>G (p.Asp939Glu) c.47T>G c.336T>G (p.Asp112Glu) c.2706T>G (p.Asp902Glu) n.582+1698A>C c.2391T>G (p.Asp797Glu) c.2388T>G (p.Asp796Glu) n.3179T>G n.3014T>G n.600+1698A>C n.475+3586A>C | |
| 3 | g.193667222T= | CA1430233610 | OPA1 | c.2925T= (p.Asp975=) c.2760T= (p.Asp920=) c.2871T= (p.Asp957=) c.2814T= (p.Asp938=) c.2699T= c.*985T= (n.*985T=) c.2442T= (p.Asp814=) c.*2841T= (n.*2841T=) c.2347T= c.*1244T= (n.*1244T=) c.2754T= c.2775T= (p.Asp925=) c.*2238T= (n.*2238T=) c.*1361T= (n.*1361T=) c.1748T= c.2652T= (p.Asp884=) c.2763T= (p.Asp921=) c.2817T= (p.Asp939=) c.47T= c.336T= (p.Asp112=) c.2706T= (p.Asp902=) n.582+1698A= c.2391T= (p.Asp797=) c.2388T= (p.Asp796=) n.3179T= n.3014T= n.600+1698A= n.475+3586A= | |
| 3 | g.193667223G>A | CA355797451 | OPA1 | c.2926G>A (p.Gly976Ser) c.2761G>A (p.Gly921Ser) c.2872G>A (p.Gly958Ser) c.2815G>A (p.Gly939Ser) c.2700G>A c.*986G>A (n.*986G>A) c.2443G>A (p.Gly815Ser) c.*2842G>A (n.*2842G>A) c.2348G>A c.*1245G>A (n.*1245G>A) c.2755G>A c.2776G>A (p.Gly926Ser) c.*2239G>A (n.*2239G>A) c.*1362G>A (n.*1362G>A) c.1749G>A c.2653G>A (p.Gly885Ser) c.2764G>A (p.Gly922Ser) c.2818G>A (p.Gly940Ser) c.48G>A c.337G>A (p.Gly113Ser) c.2707G>A (p.Gly903Ser) n.582+1697C>T c.2392G>A (p.Gly798Ser) c.2389G>A (p.Gly797Ser) n.3180G>A n.3015G>A n.600+1697C>T n.475+3585C>T | gnomAD v4 |
| 3 | g.193667223G>C | CA355797454 | OPA1 | c.2926G>C (p.Gly976Arg) c.2761G>C (p.Gly921Arg) c.2872G>C (p.Gly958Arg) c.2815G>C (p.Gly939Arg) c.2700G>C c.*986G>C (n.*986G>C) c.2443G>C (p.Gly815Arg) c.*2842G>C (n.*2842G>C) c.2348G>C c.*1245G>C (n.*1245G>C) c.2755G>C c.2776G>C (p.Gly926Arg) c.*2239G>C (n.*2239G>C) c.*1362G>C (n.*1362G>C) c.1749G>C c.2653G>C (p.Gly885Arg) c.2764G>C (p.Gly922Arg) c.2818G>C (p.Gly940Arg) c.48G>C c.337G>C (p.Gly113Arg) c.2707G>C (p.Gly903Arg) n.582+1697C>G c.2392G>C (p.Gly798Arg) c.2389G>C (p.Gly797Arg) n.3180G>C n.3015G>C n.600+1697C>G n.475+3585C>G | |
| 3 | g.193667223G= | CA1430233616 | OPA1 | c.2926G= (p.Gly976=) c.2761G= (p.Gly921=) c.2872G= (p.Gly958=) c.2815G= (p.Gly939=) c.2700G= c.*986G= (n.*986G=) c.2443G= (p.Gly815=) c.*2842G= (n.*2842G=) c.2348G= c.*1245G= (n.*1245G=) c.2755G= c.2776G= (p.Gly926=) c.*2239G= (n.*2239G=) c.*1362G= (n.*1362G=) c.1749G= c.2653G= (p.Gly885=) c.2764G= (p.Gly922=) c.2818G= (p.Gly940=) c.48G= c.337G= (p.Gly113=) c.2707G= (p.Gly903=) n.582+1697C= c.2392G= (p.Gly798=) c.2389G= (p.Gly797=) n.3180G= n.3015G= n.600+1697C= n.475+3585C= | |
| 3 | g.193667223G>T | CA2759782 | OPA1 | c.2926G>T (p.Gly976Cys) c.2761G>T (p.Gly921Cys) c.2872G>T (p.Gly958Cys) c.2815G>T (p.Gly939Cys) c.2700G>T c.*986G>T (n.*986G>T) c.2443G>T (p.Gly815Cys) c.*2842G>T (n.*2842G>T) c.2348G>T c.*1245G>T (n.*1245G>T) c.2755G>T c.2776G>T (p.Gly926Cys) c.*2239G>T (n.*2239G>T) c.*1362G>T (n.*1362G>T) c.1749G>T c.2653G>T (p.Gly885Cys) c.2764G>T (p.Gly922Cys) c.2818G>T (p.Gly940Cys) c.48G>T c.337G>T (p.Gly113Cys) c.2707G>T (p.Gly903Cys) n.582+1697C>A c.2392G>T (p.Gly798Cys) c.2389G>T (p.Gly797Cys) n.3180G>T n.3015G>T n.600+1697C>A n.475+3585C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.193667224G>A | CA355797465 | OPA1 | c.2927G>A (p.Gly976Asp) c.2762G>A (p.Gly921Asp) c.2873G>A (p.Gly958Asp) c.2816G>A (p.Gly939Asp) c.2701G>A c.*987G>A (n.*987G>A) c.2444G>A (p.Gly815Asp) c.*2843G>A (n.*2843G>A) c.2349G>A c.*1246G>A (n.*1246G>A) c.2756G>A c.2777G>A (p.Gly926Asp) c.*2240G>A (n.*2240G>A) c.*1363G>A (n.*1363G>A) c.1750G>A c.2654G>A (p.Gly885Asp) c.2765G>A (p.Gly922Asp) c.2819G>A (p.Gly940Asp) c.49G>A c.338G>A (p.Gly113Asp) c.2708G>A (p.Gly903Asp) n.582+1696C>T c.2393G>A (p.Gly798Asp) c.2390G>A (p.Gly797Asp) n.3181G>A n.3016G>A n.600+1696C>T n.475+3584C>T | dbSNP gnomAD v4 |
| 3 | g.193667224G>C | CA355797467 | OPA1 | c.2927G>C (p.Gly976Ala) c.2762G>C (p.Gly921Ala) c.2873G>C (p.Gly958Ala) c.2816G>C (p.Gly939Ala) c.2701G>C c.*987G>C (n.*987G>C) c.2444G>C (p.Gly815Ala) c.*2843G>C (n.*2843G>C) c.2349G>C c.*1246G>C (n.*1246G>C) c.2756G>C c.2777G>C (p.Gly926Ala) c.*2240G>C (n.*2240G>C) c.*1363G>C (n.*1363G>C) c.1750G>C c.2654G>C (p.Gly885Ala) c.2765G>C (p.Gly922Ala) c.2819G>C (p.Gly940Ala) c.49G>C c.338G>C (p.Gly113Ala) c.2708G>C (p.Gly903Ala) n.582+1696C>G c.2393G>C (p.Gly798Ala) c.2390G>C (p.Gly797Ala) n.3181G>C n.3016G>C n.600+1696C>G n.475+3584C>G | |
| 3 | g.193667224G= | CA1430233619 | OPA1 | c.2927G= (p.Gly976=) c.2762G= (p.Gly921=) c.2873G= (p.Gly958=) c.2816G= (p.Gly939=) c.2701G= c.*987G= (n.*987G=) c.2444G= (p.Gly815=) c.*2843G= (n.*2843G=) c.2349G= c.*1246G= (n.*1246G=) c.2756G= c.2777G= (p.Gly926=) c.*2240G= (n.*2240G=) c.*1363G= (n.*1363G=) c.1750G= c.2654G= (p.Gly885=) c.2765G= (p.Gly922=) c.2819G= (p.Gly940=) c.49G= c.338G= (p.Gly113=) c.2708G= (p.Gly903=) n.582+1696C= c.2393G= (p.Gly798=) c.2390G= (p.Gly797=) n.3181G= n.3016G= n.600+1696C= n.475+3584C= | |
| 3 | g.193667224G>T | CA355797470 | OPA1 | c.2927G>T (p.Gly976Val) c.2762G>T (p.Gly921Val) c.2873G>T (p.Gly958Val) c.2816G>T (p.Gly939Val) c.2701G>T c.*987G>T (n.*987G>T) c.2444G>T (p.Gly815Val) c.*2843G>T (n.*2843G>T) c.2349G>T c.*1246G>T (n.*1246G>T) c.2756G>T c.2777G>T (p.Gly926Val) c.*2240G>T (n.*2240G>T) c.*1363G>T (n.*1363G>T) c.1750G>T c.2654G>T (p.Gly885Val) c.2765G>T (p.Gly922Val) c.2819G>T (p.Gly940Val) c.49G>T c.338G>T (p.Gly113Val) c.2708G>T (p.Gly903Val) n.582+1696C>A c.2393G>T (p.Gly798Val) c.2390G>T (p.Gly797Val) n.3181G>T n.3016G>T n.600+1696C>A n.475+3584C>A | |
| 3 | g.193667225T>A | CA437441974 | OPA1 | c.2928T>A (p.Gly976=) c.2763T>A (p.Gly921=) c.2874T>A (p.Gly958=) c.2817T>A (p.Gly939=) c.2702T>A c.*988T>A (n.*988T>A) c.2445T>A (p.Gly815=) c.*2844T>A (n.*2844T>A) c.2350T>A c.*1247T>A (n.*1247T>A) c.2757T>A c.2778T>A (p.Gly926=) c.*2241T>A (n.*2241T>A) c.*1364T>A (n.*1364T>A) c.1751T>A c.2655T>A (p.Gly885=) c.2766T>A (p.Gly922=) c.2820T>A (p.Gly940=) c.50T>A c.339T>A (p.Gly113=) c.2709T>A (p.Gly903=) n.582+1695A>T c.2394T>A (p.Gly798=) c.2391T>A (p.Gly797=) n.3182T>A n.3017T>A n.600+1695A>T n.475+3583A>T | |
| 3 | g.193667225T>C | CA437441976 | OPA1 | c.2928T>C (p.Gly976=) c.2763T>C (p.Gly921=) c.2874T>C (p.Gly958=) c.2817T>C (p.Gly939=) c.2702T>C c.*988T>C (n.*988T>C) c.2445T>C (p.Gly815=) c.*2844T>C (n.*2844T>C) c.2350T>C c.*1247T>C (n.*1247T>C) c.2757T>C c.2778T>C (p.Gly926=) c.*2241T>C (n.*2241T>C) c.*1364T>C (n.*1364T>C) c.1751T>C c.2655T>C (p.Gly885=) c.2766T>C (p.Gly922=) c.2820T>C (p.Gly940=) c.50T>C c.339T>C (p.Gly113=) c.2709T>C (p.Gly903=) n.582+1695A>G c.2394T>C (p.Gly798=) c.2391T>C (p.Gly797=) n.3182T>C n.3017T>C n.600+1695A>G n.475+3583A>G | |
| 3 | g.193667225T>G | CA437441975 | OPA1 | c.2928T>G (p.Gly976=) c.2763T>G (p.Gly921=) c.2874T>G (p.Gly958=) c.2817T>G (p.Gly939=) c.2702T>G c.*988T>G (n.*988T>G) c.2445T>G (p.Gly815=) c.*2844T>G (n.*2844T>G) c.2350T>G c.*1247T>G (n.*1247T>G) c.2757T>G c.2778T>G (p.Gly926=) c.*2241T>G (n.*2241T>G) c.*1364T>G (n.*1364T>G) c.1751T>G c.2655T>G (p.Gly885=) c.2766T>G (p.Gly922=) c.2820T>G (p.Gly940=) c.50T>G c.339T>G (p.Gly113=) c.2709T>G (p.Gly903=) n.582+1695A>C c.2394T>G (p.Gly798=) c.2391T>G (p.Gly797=) n.3182T>G n.3017T>G n.600+1695A>C n.475+3583A>C | ClinVar |
| 3 | g.193667226G>A | CA2759783 | OPA1 | c.2929G>A (p.Glu977Lys) c.2764G>A (p.Glu922Lys) c.2875G>A (p.Glu959Lys) c.2818G>A (p.Glu940Lys) c.2703G>A c.*989G>A (n.*989G>A) c.2446G>A (p.Glu816Lys) c.*2845G>A (n.*2845G>A) c.2351G>A c.*1248G>A (n.*1248G>A) c.2758G>A c.2779G>A (p.Glu927Lys) c.*2242G>A (n.*2242G>A) c.*1365G>A (n.*1365G>A) c.1752G>A c.2656G>A (p.Glu886Lys) c.2767G>A (p.Glu923Lys) c.2821G>A (p.Glu941Lys) c.51G>A c.340G>A (p.Glu114Lys) c.2710G>A (p.Glu904Lys) n.582+1694C>T c.2395G>A (p.Glu799Lys) c.2392G>A (p.Glu798Lys) n.3183G>A n.3018G>A n.600+1694C>T n.475+3582C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.193667226G>C | CA355797480 | OPA1 | c.2929G>C (p.Glu977Gln) c.2764G>C (p.Glu922Gln) c.2875G>C (p.Glu959Gln) c.2818G>C (p.Glu940Gln) c.2703G>C c.*989G>C (n.*989G>C) c.2446G>C (p.Glu816Gln) c.*2845G>C (n.*2845G>C) c.2351G>C c.*1248G>C (n.*1248G>C) c.2758G>C c.2779G>C (p.Glu927Gln) c.*2242G>C (n.*2242G>C) c.*1365G>C (n.*1365G>C) c.1752G>C c.2656G>C (p.Glu886Gln) c.2767G>C (p.Glu923Gln) c.2821G>C (p.Glu941Gln) c.51G>C c.340G>C (p.Glu114Gln) c.2710G>C (p.Glu904Gln) n.582+1694C>G c.2395G>C (p.Glu799Gln) c.2392G>C (p.Glu798Gln) n.3183G>C n.3018G>C n.600+1694C>G n.475+3582C>G | |
| 3 | g.193667226G= | CA1430233623 | OPA1 | c.2929G= (p.Glu977=) c.2764G= (p.Glu922=) c.2875G= (p.Glu959=) c.2818G= (p.Glu940=) c.2703G= c.*989G= (n.*989G=) c.2446G= (p.Glu816=) c.*2845G= (n.*2845G=) c.2351G= c.*1248G= (n.*1248G=) c.2758G= c.2779G= (p.Glu927=) c.*2242G= (n.*2242G=) c.*1365G= (n.*1365G=) c.1752G= c.2656G= (p.Glu886=) c.2767G= (p.Glu923=) c.2821G= (p.Glu941=) c.51G= c.340G= (p.Glu114=) c.2710G= (p.Glu904=) n.582+1694C= c.2395G= (p.Glu799=) c.2392G= (p.Glu798=) n.3183G= n.3018G= n.600+1694C= n.475+3582C= | |
| 3 | g.193667226G>T | CA355797476 | OPA1 | c.2929G>T (p.Glu977Ter) c.2764G>T (p.Glu922Ter) c.2875G>T (p.Glu959Ter) c.2818G>T (p.Glu940Ter) c.2703G>T c.*989G>T (n.*989G>T) c.2446G>T (p.Glu816Ter) c.*2845G>T (n.*2845G>T) c.2351G>T c.*1248G>T (n.*1248G>T) c.2758G>T c.2779G>T (p.Glu927Ter) c.*2242G>T (n.*2242G>T) c.*1365G>T (n.*1365G>T) c.1752G>T c.2656G>T (p.Glu886Ter) c.2767G>T (p.Glu923Ter) c.2821G>T (p.Glu941Ter) c.51G>T c.340G>T (p.Glu114Ter) c.2710G>T (p.Glu904Ter) n.582+1694C>A c.2395G>T (p.Glu799Ter) c.2392G>T (p.Glu798Ter) n.3183G>T n.3018G>T n.600+1694C>A n.475+3582C>A | |
| 3 | g.193667226_193667229delinsGAGA | CA1430233621 | OPA1 | c.2929_2932delinsGAGA (p.Glu977=) c.2764_2767delinsGAGA (p.Glu922=) c.2875_2878delinsGAGA (p.Glu959=) c.2818_2821delinsGAGA (p.Glu940=) c.2703_2706delinsGAGA c.*989_*992delinsGAGA (n.*989_*992delinsGAGA) c.2446_2449delinsGAGA (p.Glu816=) c.*2845_*2848delinsGAGA (n.*2845_*2848delinsGAGA) c.2351_2354delinsGAGA c.*1248_*1251delinsGAGA (n.*1248_*1251delinsGAGA) c.2758_2761delinsGAGA c.2779_2782delinsGAGA (p.Glu927=) c.*2242_*2245delinsGAGA (n.*2242_*2245delinsGAGA) c.*1365_*1368delinsGAGA (n.*1365_*1368delinsGAGA) c.1752_1755delinsGAGA c.2656_2659delinsGAGA (p.Glu886=) c.2767_2770delinsGAGA (p.Glu923=) c.2821_2824delinsGAGA (p.Glu941=) c.51_54delinsGAGA c.340_343delinsGAGA (p.Glu114=) c.2710_2713delinsGAGA (p.Glu904=) n.582+1691_582+1694delinsTCTC c.2395_2398delinsGAGA (p.Glu799=) c.2392_2395delinsGAGA (p.Glu798=) n.3183_3186delinsGAGA n.3018_3021delinsGAGA n.600+1691_600+1694delinsTCTC n.475+3579_475+3582delinsTCTC | |
| 3 | g.193667227A>C | CA355797484 | OPA1 | c.2930A>C (p.Glu977Ala) c.2765A>C (p.Glu922Ala) c.2876A>C (p.Glu959Ala) c.2819A>C (p.Glu940Ala) c.2704A>C c.*990A>C (n.*990A>C) c.2447A>C (p.Glu816Ala) c.*2846A>C (n.*2846A>C) c.2352A>C c.*1249A>C (n.*1249A>C) c.2759A>C c.2780A>C (p.Glu927Ala) c.*2243A>C (n.*2243A>C) c.*1366A>C (n.*1366A>C) c.1753A>C c.2657A>C (p.Glu886Ala) c.2768A>C (p.Glu923Ala) c.2822A>C (p.Glu941Ala) c.52A>C c.341A>C (p.Glu114Ala) c.2711A>C (p.Glu904Ala) n.582+1693T>G c.2396A>C (p.Glu799Ala) c.2393A>C (p.Glu798Ala) n.3184A>C n.3019A>C n.600+1693T>G n.475+3581T>G | |
| 3 | g.193667227A>G | CA355797488 | OPA1 | c.2930A>G (p.Glu977Gly) c.2765A>G (p.Glu922Gly) c.2876A>G (p.Glu959Gly) c.2819A>G (p.Glu940Gly) c.2704A>G c.*990A>G (n.*990A>G) c.2447A>G (p.Glu816Gly) c.*2846A>G (n.*2846A>G) c.2352A>G c.*1249A>G (n.*1249A>G) c.2759A>G c.2780A>G (p.Glu927Gly) c.*2243A>G (n.*2243A>G) c.*1366A>G (n.*1366A>G) c.1753A>G c.2657A>G (p.Glu886Gly) c.2768A>G (p.Glu923Gly) c.2822A>G (p.Glu941Gly) c.52A>G c.341A>G (p.Glu114Gly) c.2711A>G (p.Glu904Gly) n.582+1693T>C c.2396A>G (p.Glu799Gly) c.2393A>G (p.Glu798Gly) n.3184A>G n.3019A>G n.600+1693T>C n.475+3581T>C | |
| 3 | g.193667227A>T | CA355797491 | OPA1 | c.2930A>T (p.Glu977Val) c.2765A>T (p.Glu922Val) c.2876A>T (p.Glu959Val) c.2819A>T (p.Glu940Val) c.2704A>T c.*990A>T (n.*990A>T) c.2447A>T (p.Glu816Val) c.*2846A>T (n.*2846A>T) c.2352A>T c.*1249A>T (n.*1249A>T) c.2759A>T c.2780A>T (p.Glu927Val) c.*2243A>T (n.*2243A>T) c.*1366A>T (n.*1366A>T) c.1753A>T c.2657A>T (p.Glu886Val) c.2768A>T (p.Glu923Val) c.2822A>T (p.Glu941Val) c.52A>T c.341A>T (p.Glu114Val) c.2711A>T (p.Glu904Val) n.582+1693T>A c.2396A>T (p.Glu799Val) c.2393A>T (p.Glu798Val) n.3184A>T n.3019A>T n.600+1693T>A n.475+3581T>A | |
| 3 | g.193667233_193667235del | CA2759784 | OPA1 | c.2936_2938del (p.Lys979del) c.2771_2773del (p.Lys924del) c.2882_2884del (p.Lys961del) c.2825_2827del (p.Lys942del) c.2710_2712del c.*996_*998del (n.*996_*998del) c.2453_2455del (p.Lys818del) c.*2852_*2854del (n.*2852_*2854del) c.2358_2360del c.*1255_*1257del (n.*1255_*1257del) c.2765_2767del c.2786_2788del (p.Lys929del) c.*2249_*2251del (n.*2249_*2251del) c.*1372_*1374del (n.*1372_*1374del) c.1759_1761del c.2663_2665del (p.Lys888del) c.2774_2776del (p.Lys925del) c.2828_2830del (p.Lys943del) c.58_60del c.347_349del (p.Lys116del) c.2717_2719del (p.Lys906del) n.582+1691_582+1693del c.2402_2404del (p.Lys801del) c.2399_2401del (p.Lys800del) n.3190_3192del n.3025_3027del n.600+1691_600+1693del n.475+3579_475+3581del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193667228G>A | CA90558313 | OPA1 | c.2931G>A (p.Glu977=) c.2766G>A (p.Glu922=) c.2877G>A (p.Glu959=) c.2820G>A (p.Glu940=) c.2705G>A c.*991G>A (n.*991G>A) c.2448G>A (p.Glu816=) c.*2847G>A (n.*2847G>A) c.2353G>A c.*1250G>A (n.*1250G>A) c.2760G>A c.2781G>A (p.Glu927=) c.*2244G>A (n.*2244G>A) c.*1367G>A (n.*1367G>A) c.1754G>A c.2658G>A (p.Glu886=) c.2769G>A (p.Glu923=) c.2823G>A (p.Glu941=) c.53G>A c.342G>A (p.Glu114=) c.2712G>A (p.Glu904=) n.582+1692C>T c.2397G>A (p.Glu799=) c.2394G>A (p.Glu798=) n.3185G>A n.3020G>A n.600+1692C>T n.475+3580C>T | ClinVar dbSNP |
| 3 | g.193667228G>C | CA355797505 | OPA1 | c.2931G>C (p.Glu977Asp) c.2766G>C (p.Glu922Asp) c.2877G>C (p.Glu959Asp) c.2820G>C (p.Glu940Asp) c.2705G>C c.*991G>C (n.*991G>C) c.2448G>C (p.Glu816Asp) c.*2847G>C (n.*2847G>C) c.2353G>C c.*1250G>C (n.*1250G>C) c.2760G>C c.2781G>C (p.Glu927Asp) c.*2244G>C (n.*2244G>C) c.*1367G>C (n.*1367G>C) c.1754G>C c.2658G>C (p.Glu886Asp) c.2769G>C (p.Glu923Asp) c.2823G>C (p.Glu941Asp) c.53G>C c.342G>C (p.Glu114Asp) c.2712G>C (p.Glu904Asp) n.582+1692C>G c.2397G>C (p.Glu799Asp) c.2394G>C (p.Glu798Asp) n.3185G>C n.3020G>C n.600+1692C>G n.475+3580C>G | |
| 3 | g.193667228G= | CA1430233629 | OPA1 | c.2931G= (p.Glu977=) c.2766G= (p.Glu922=) c.2877G= (p.Glu959=) c.2820G= (p.Glu940=) c.2705G= c.*991G= (n.*991G=) c.2448G= (p.Glu816=) c.*2847G= (n.*2847G=) c.2353G= c.*1250G= (n.*1250G=) c.2760G= c.2781G= (p.Glu927=) c.*2244G= (n.*2244G=) c.*1367G= (n.*1367G=) c.1754G= c.2658G= (p.Glu886=) c.2769G= (p.Glu923=) c.2823G= (p.Glu941=) c.53G= c.342G= (p.Glu114=) c.2712G= (p.Glu904=) n.582+1692C= c.2397G= (p.Glu799=) c.2394G= (p.Glu798=) n.3185G= n.3020G= n.600+1692C= n.475+3580C= | |
| 3 | g.193667228G>T | CA355797507 | OPA1 | c.2931G>T (p.Glu977Asp) c.2766G>T (p.Glu922Asp) c.2877G>T (p.Glu959Asp) c.2820G>T (p.Glu940Asp) c.2705G>T c.*991G>T (n.*991G>T) c.2448G>T (p.Glu816Asp) c.*2847G>T (n.*2847G>T) c.2353G>T c.*1250G>T (n.*1250G>T) c.2760G>T c.2781G>T (p.Glu927Asp) c.*2244G>T (n.*2244G>T) c.*1367G>T (n.*1367G>T) c.1754G>T c.2658G>T (p.Glu886Asp) c.2769G>T (p.Glu923Asp) c.2823G>T (p.Glu941Asp) c.53G>T c.342G>T (p.Glu114Asp) c.2712G>T (p.Glu904Asp) n.582+1692C>A c.2397G>T (p.Glu799Asp) c.2394G>T (p.Glu798Asp) n.3185G>T n.3020G>T n.600+1692C>A n.475+3580C>A | |
| 3 | g.193667229A>C | CA355797515 | OPA1 | c.2932A>C (p.Lys978Gln) c.2767A>C (p.Lys923Gln) c.2878A>C (p.Lys960Gln) c.2821A>C (p.Lys941Gln) c.2706A>C c.*992A>C (n.*992A>C) c.2449A>C (p.Lys817Gln) c.*2848A>C (n.*2848A>C) c.2354A>C c.*1251A>C (n.*1251A>C) c.2761A>C c.2782A>C (p.Lys928Gln) c.*2245A>C (n.*2245A>C) c.*1368A>C (n.*1368A>C) c.1755A>C c.2659A>C (p.Lys887Gln) c.2770A>C (p.Lys924Gln) c.2824A>C (p.Lys942Gln) c.54A>C c.343A>C (p.Lys115Gln) c.2713A>C (p.Lys905Gln) n.582+1691T>G c.2398A>C (p.Lys800Gln) c.2395A>C (p.Lys799Gln) n.3186A>C n.3021A>C n.600+1691T>G n.475+3579T>G | |
| 3 | g.193667229A>G | CA355797520 | OPA1 | c.2932A>G (p.Lys978Glu) c.2767A>G (p.Lys923Glu) c.2878A>G (p.Lys960Glu) c.2821A>G (p.Lys941Glu) c.2706A>G c.*992A>G (n.*992A>G) c.2449A>G (p.Lys817Glu) c.*2848A>G (n.*2848A>G) c.2354A>G c.*1251A>G (n.*1251A>G) c.2761A>G c.2782A>G (p.Lys928Glu) c.*2245A>G (n.*2245A>G) c.*1368A>G (n.*1368A>G) c.1755A>G c.2659A>G (p.Lys887Glu) c.2770A>G (p.Lys924Glu) c.2824A>G (p.Lys942Glu) c.54A>G c.343A>G (p.Lys115Glu) c.2713A>G (p.Lys905Glu) n.582+1691T>C c.2398A>G (p.Lys800Glu) c.2395A>G (p.Lys799Glu) n.3186A>G n.3021A>G n.600+1691T>C n.475+3579T>C | |
| 3 | g.193667229A>T | CA355797522 | OPA1 | c.2932A>T (p.Lys978Ter) c.2767A>T (p.Lys923Ter) c.2878A>T (p.Lys960Ter) c.2821A>T (p.Lys941Ter) c.2706A>T c.*992A>T (n.*992A>T) c.2449A>T (p.Lys817Ter) c.*2848A>T (n.*2848A>T) c.2354A>T c.*1251A>T (n.*1251A>T) c.2761A>T c.2782A>T (p.Lys928Ter) c.*2245A>T (n.*2245A>T) c.*1368A>T (n.*1368A>T) c.1755A>T c.2659A>T (p.Lys887Ter) c.2770A>T (p.Lys924Ter) c.2824A>T (p.Lys942Ter) c.54A>T c.343A>T (p.Lys115Ter) c.2713A>T (p.Lys905Ter) n.582+1691T>A c.2398A>T (p.Lys800Ter) c.2395A>T (p.Lys799Ter) n.3186A>T n.3021A>T n.600+1691T>A n.475+3579T>A | |
| 3 | g.193667230A>C | CA355797526 | OPA1 | c.2933A>C (p.Lys978Thr) c.2768A>C (p.Lys923Thr) c.2879A>C (p.Lys960Thr) c.2822A>C (p.Lys941Thr) c.2707A>C c.*993A>C (n.*993A>C) c.2450A>C (p.Lys817Thr) c.*2849A>C (n.*2849A>C) c.2355A>C c.*1252A>C (n.*1252A>C) c.2762A>C c.2783A>C (p.Lys928Thr) c.*2246A>C (n.*2246A>C) c.*1369A>C (n.*1369A>C) c.1756A>C c.2660A>C (p.Lys887Thr) c.2771A>C (p.Lys924Thr) c.2825A>C (p.Lys942Thr) c.55A>C c.344A>C (p.Lys115Thr) c.2714A>C (p.Lys905Thr) n.582+1690T>G c.2399A>C (p.Lys800Thr) c.2396A>C (p.Lys799Thr) n.3187A>C n.3022A>C n.600+1690T>G n.475+3578T>G | |
| 3 | g.193667230A>G | CA355797528 | OPA1 | c.2933A>G (p.Lys978Arg) c.2768A>G (p.Lys923Arg) c.2879A>G (p.Lys960Arg) c.2822A>G (p.Lys941Arg) c.2707A>G c.*993A>G (n.*993A>G) c.2450A>G (p.Lys817Arg) c.*2849A>G (n.*2849A>G) c.2355A>G c.*1252A>G (n.*1252A>G) c.2762A>G c.2783A>G (p.Lys928Arg) c.*2246A>G (n.*2246A>G) c.*1369A>G (n.*1369A>G) c.1756A>G c.2660A>G (p.Lys887Arg) c.2771A>G (p.Lys924Arg) c.2825A>G (p.Lys942Arg) c.55A>G c.344A>G (p.Lys115Arg) c.2714A>G (p.Lys905Arg) n.582+1690T>C c.2399A>G (p.Lys800Arg) c.2396A>G (p.Lys799Arg) n.3187A>G n.3022A>G n.600+1690T>C n.475+3578T>C | |
| 3 | g.193667230A>T | CA355797531 | OPA1 | c.2933A>T (p.Lys978Met) c.2768A>T (p.Lys923Met) c.2879A>T (p.Lys960Met) c.2822A>T (p.Lys941Met) c.2707A>T c.*993A>T (n.*993A>T) c.2450A>T (p.Lys817Met) c.*2849A>T (n.*2849A>T) c.2355A>T c.*1252A>T (n.*1252A>T) c.2762A>T c.2783A>T (p.Lys928Met) c.*2246A>T (n.*2246A>T) c.*1369A>T (n.*1369A>T) c.1756A>T c.2660A>T (p.Lys887Met) c.2771A>T (p.Lys924Met) c.2825A>T (p.Lys942Met) c.55A>T c.344A>T (p.Lys115Met) c.2714A>T (p.Lys905Met) n.582+1690T>A c.2399A>T (p.Lys800Met) c.2396A>T (p.Lys799Met) n.3187A>T n.3022A>T n.600+1690T>A n.475+3578T>A | |
| 3 | g.193667231G>A | CA437441977 | OPA1 | c.2934G>A (p.Lys978=) c.2769G>A (p.Lys923=) c.2880G>A (p.Lys960=) c.2823G>A (p.Lys941=) c.2708G>A c.*994G>A (n.*994G>A) c.2451G>A (p.Lys817=) c.*2850G>A (n.*2850G>A) c.2356G>A c.*1253G>A (n.*1253G>A) c.2763G>A c.2784G>A (p.Lys928=) c.*2247G>A (n.*2247G>A) c.*1370G>A (n.*1370G>A) c.1757G>A c.2661G>A (p.Lys887=) c.2772G>A (p.Lys924=) c.2826G>A (p.Lys942=) c.56G>A c.345G>A (p.Lys115=) c.2715G>A (p.Lys905=) n.582+1689C>T c.2400G>A (p.Lys800=) c.2397G>A (p.Lys799=) n.3188G>A n.3023G>A n.600+1689C>T n.475+3577C>T | |
| 3 | g.193667231G>C | CA355797532 | OPA1 | c.2934G>C (p.Lys978Asn) c.2769G>C (p.Lys923Asn) c.2880G>C (p.Lys960Asn) c.2823G>C (p.Lys941Asn) c.2708G>C c.*994G>C (n.*994G>C) c.2451G>C (p.Lys817Asn) c.*2850G>C (n.*2850G>C) c.2356G>C c.*1253G>C (n.*1253G>C) c.2763G>C c.2784G>C (p.Lys928Asn) c.*2247G>C (n.*2247G>C) c.*1370G>C (n.*1370G>C) c.1757G>C c.2661G>C (p.Lys887Asn) c.2772G>C (p.Lys924Asn) c.2826G>C (p.Lys942Asn) c.56G>C c.345G>C (p.Lys115Asn) c.2715G>C (p.Lys905Asn) n.582+1689C>G c.2400G>C (p.Lys800Asn) c.2397G>C (p.Lys799Asn) n.3188G>C n.3023G>C n.600+1689C>G n.475+3577C>G | |
| 3 | g.193667231G>T | CA355797534 | OPA1 | c.2934G>T (p.Lys978Asn) c.2769G>T (p.Lys923Asn) c.2880G>T (p.Lys960Asn) c.2823G>T (p.Lys941Asn) c.2708G>T c.*994G>T (n.*994G>T) c.2451G>T (p.Lys817Asn) c.*2850G>T (n.*2850G>T) c.2356G>T c.*1253G>T (n.*1253G>T) c.2763G>T c.2784G>T (p.Lys928Asn) c.*2247G>T (n.*2247G>T) c.*1370G>T (n.*1370G>T) c.1757G>T c.2661G>T (p.Lys887Asn) c.2772G>T (p.Lys924Asn) c.2826G>T (p.Lys942Asn) c.56G>T c.345G>T (p.Lys115Asn) c.2715G>T (p.Lys905Asn) n.582+1689C>A c.2400G>T (p.Lys800Asn) c.2397G>T (p.Lys799Asn) n.3188G>T n.3023G>T n.600+1689C>A n.475+3577C>A | |
| 3 | g.193667232A>C | CA355797540 | OPA1 | c.2935A>C (p.Lys979Gln) c.2770A>C (p.Lys924Gln) c.2881A>C (p.Lys961Gln) c.2824A>C (p.Lys942Gln) c.2709A>C c.*995A>C (n.*995A>C) c.2452A>C (p.Lys818Gln) c.*2851A>C (n.*2851A>C) c.2357A>C c.*1254A>C (n.*1254A>C) c.2764A>C c.2785A>C (p.Lys929Gln) c.*2248A>C (n.*2248A>C) c.*1371A>C (n.*1371A>C) c.1758A>C c.2662A>C (p.Lys888Gln) c.2773A>C (p.Lys925Gln) c.2827A>C (p.Lys943Gln) c.57A>C c.346A>C (p.Lys116Gln) c.2716A>C (p.Lys906Gln) n.582+1688T>G c.2401A>C (p.Lys801Gln) c.2398A>C (p.Lys800Gln) n.3189A>C n.3024A>C n.600+1688T>G n.475+3576T>G | |
| 3 | g.193667232A>G | CA355797549 | OPA1 | c.2935A>G (p.Lys979Glu) c.2770A>G (p.Lys924Glu) c.2881A>G (p.Lys961Glu) c.2824A>G (p.Lys942Glu) c.2709A>G c.*995A>G (n.*995A>G) c.2452A>G (p.Lys818Glu) c.*2851A>G (n.*2851A>G) c.2357A>G c.*1254A>G (n.*1254A>G) c.2764A>G c.2785A>G (p.Lys929Glu) c.*2248A>G (n.*2248A>G) c.*1371A>G (n.*1371A>G) c.1758A>G c.2662A>G (p.Lys888Glu) c.2773A>G (p.Lys925Glu) c.2827A>G (p.Lys943Glu) c.57A>G c.346A>G (p.Lys116Glu) c.2716A>G (p.Lys906Glu) n.582+1688T>C c.2401A>G (p.Lys801Glu) c.2398A>G (p.Lys800Glu) n.3189A>G n.3024A>G n.600+1688T>C n.475+3576T>C | gnomAD v4 |
| 3 | g.193667232A>T | CA355797551 | OPA1 | c.2935A>T (p.Lys979Ter) c.2770A>T (p.Lys924Ter) c.2881A>T (p.Lys961Ter) c.2824A>T (p.Lys942Ter) c.2709A>T c.*995A>T (n.*995A>T) c.2452A>T (p.Lys818Ter) c.*2851A>T (n.*2851A>T) c.2357A>T c.*1254A>T (n.*1254A>T) c.2764A>T c.2785A>T (p.Lys929Ter) c.*2248A>T (n.*2248A>T) c.*1371A>T (n.*1371A>T) c.1758A>T c.2662A>T (p.Lys888Ter) c.2773A>T (p.Lys925Ter) c.2827A>T (p.Lys943Ter) c.57A>T c.346A>T (p.Lys116Ter) c.2716A>T (p.Lys906Ter) n.582+1688T>A c.2401A>T (p.Lys801Ter) c.2398A>T (p.Lys800Ter) n.3189A>T n.3024A>T n.600+1688T>A n.475+3576T>A | ClinVar |
| 3 | g.193667233del | CA2586973387 | OPA1 | c.2936del (p.Lys979ArgfsTer?) c.2771del (p.Lys924ArgfsTer?) c.2882del (p.Lys961ArgfsTer?) c.2825del (p.Lys942ArgfsTer?) c.2710del c.*996del (n.*996del) c.2453del (p.Lys818ArgfsTer?) c.*2852del (n.*2852del) c.2771del (p.Lys924ArgfsTer18) c.2358del c.*1255del (n.*1255del) c.2765del c.2786del (p.Lys929ArgfsTer?) c.*2249del (n.*2249del) c.*1372del (n.*1372del) c.1759del c.2663del (p.Lys888ArgfsTer?) c.2774del (p.Lys925ArgfsTer?) c.2828del (p.Lys943ArgfsTer?) c.58del c.347del (p.Lys116ArgfsTer24) c.2717del (p.Lys906ArgfsTer?) c.2936del (p.Lys979ArgfsTer17) c.2882del (p.Lys961ArgfsTer17) c.2825del (p.Lys942ArgfsTer17) c.2774del (p.Lys925ArgfsTer17) c.2771del (p.Lys924ArgfsTer17) c.2663del (p.Lys888ArgfsTer17) n.582+1688del c.2402del (p.Lys801ArgfsTer?) c.2399del (p.Lys800ArgfsTer?) n.3190del n.3025del n.600+1688del n.475+3576del | |
| 3 | g.193667233A>C | CA355797558 | OPA1 | c.2936A>C (p.Lys979Thr) c.2771A>C (p.Lys924Thr) c.2882A>C (p.Lys961Thr) c.2825A>C (p.Lys942Thr) c.2710A>C c.*996A>C (n.*996A>C) c.2453A>C (p.Lys818Thr) c.*2852A>C (n.*2852A>C) c.2358A>C c.*1255A>C (n.*1255A>C) c.2765A>C c.2786A>C (p.Lys929Thr) c.*2249A>C (n.*2249A>C) c.*1372A>C (n.*1372A>C) c.1759A>C c.2663A>C (p.Lys888Thr) c.2774A>C (p.Lys925Thr) c.2828A>C (p.Lys943Thr) c.58A>C c.347A>C (p.Lys116Thr) c.2717A>C (p.Lys906Thr) n.582+1687T>G c.2402A>C (p.Lys801Thr) c.2399A>C (p.Lys800Thr) n.3190A>C n.3025A>C n.600+1687T>G n.475+3575T>G | |
| 3 | g.193667233A>G | CA355797560 | OPA1 | c.2936A>G (p.Lys979Arg) c.2771A>G (p.Lys924Arg) c.2882A>G (p.Lys961Arg) c.2825A>G (p.Lys942Arg) c.2710A>G c.*996A>G (n.*996A>G) c.2453A>G (p.Lys818Arg) c.*2852A>G (n.*2852A>G) c.2358A>G c.*1255A>G (n.*1255A>G) c.2765A>G c.2786A>G (p.Lys929Arg) c.*2249A>G (n.*2249A>G) c.*1372A>G (n.*1372A>G) c.1759A>G c.2663A>G (p.Lys888Arg) c.2774A>G (p.Lys925Arg) c.2828A>G (p.Lys943Arg) c.58A>G c.347A>G (p.Lys116Arg) c.2717A>G (p.Lys906Arg) n.582+1687T>C c.2402A>G (p.Lys801Arg) c.2399A>G (p.Lys800Arg) n.3190A>G n.3025A>G n.600+1687T>C n.475+3575T>C | |
| 3 | g.193667233A>T | CA355797563 | OPA1 | c.2936A>T (p.Lys979Met) c.2771A>T (p.Lys924Met) c.2882A>T (p.Lys961Met) c.2825A>T (p.Lys942Met) c.2710A>T c.*996A>T (n.*996A>T) c.2453A>T (p.Lys818Met) c.*2852A>T (n.*2852A>T) c.2358A>T c.*1255A>T (n.*1255A>T) c.2765A>T c.2786A>T (p.Lys929Met) c.*2249A>T (n.*2249A>T) c.*1372A>T (n.*1372A>T) c.1759A>T c.2663A>T (p.Lys888Met) c.2774A>T (p.Lys925Met) c.2828A>T (p.Lys943Met) c.58A>T c.347A>T (p.Lys116Met) c.2717A>T (p.Lys906Met) n.582+1687T>A c.2402A>T (p.Lys801Met) c.2399A>T (p.Lys800Met) n.3190A>T n.3025A>T n.600+1687T>A n.475+3575T>A | gnomAD v4 |
| 3 | g.193667234_193667235del | CA2582342651 | OPA1 | c.2937_2938del (p.Lys979AsnfsTer2) c.2772_2773del (p.Lys924AsnfsTer2) c.2883_2884del (p.Lys961AsnfsTer2) c.2826_2827del (p.Lys942AsnfsTer2) c.2711_2712del c.*997_*998del (n.*997_*998del) c.2454_2455del (p.Lys818AsnfsTer2) c.*2853_*2854del (n.*2853_*2854del) c.2359_2360del c.*1256_*1257del (n.*1256_*1257del) c.2766_2767del c.2787_2788del (p.Lys929AsnfsTer2) c.*2250_*2251del (n.*2250_*2251del) c.*1373_*1374del (n.*1373_*1374del) c.1760_1761del c.2664_2665del (p.Lys888AsnfsTer2) c.2775_2776del (p.Lys925AsnfsTer2) c.2829_2830del (p.Lys943AsnfsTer2) c.59_60del c.348_349del (p.Lys116AsnfsTer2) c.2718_2719del (p.Lys906AsnfsTer2) n.582+1686_582+1687del c.2403_2404del (p.Lys801AsnfsTer2) c.2400_2401del (p.Lys800AsnfsTer2) n.3191_3192del n.3026_3027del n.600+1686_600+1687del n.475+3574_475+3575del | ClinVar |
| 3 | g.193667234G>A | CA437441978 | OPA1 | c.2937G>A (p.Lys979=) c.2772G>A (p.Lys924=) c.2883G>A (p.Lys961=) c.2826G>A (p.Lys942=) c.2711G>A c.*997G>A (n.*997G>A) c.2454G>A (p.Lys818=) c.*2853G>A (n.*2853G>A) c.2359G>A c.*1256G>A (n.*1256G>A) c.2766G>A c.2787G>A (p.Lys929=) c.*2250G>A (n.*2250G>A) c.*1373G>A (n.*1373G>A) c.1760G>A c.2664G>A (p.Lys888=) c.2775G>A (p.Lys925=) c.2829G>A (p.Lys943=) c.59G>A c.348G>A (p.Lys116=) c.2718G>A (p.Lys906=) n.582+1686C>T c.2403G>A (p.Lys801=) c.2400G>A (p.Lys800=) n.3191G>A n.3026G>A n.600+1686C>T n.475+3574C>T | |
| 3 | g.193667234G>C | CA355797569 | OPA1 | c.2937G>C (p.Lys979Asn) c.2772G>C (p.Lys924Asn) c.2883G>C (p.Lys961Asn) c.2826G>C (p.Lys942Asn) c.2711G>C c.*997G>C (n.*997G>C) c.2454G>C (p.Lys818Asn) c.*2853G>C (n.*2853G>C) c.2359G>C c.*1256G>C (n.*1256G>C) c.2766G>C c.2787G>C (p.Lys929Asn) c.*2250G>C (n.*2250G>C) c.*1373G>C (n.*1373G>C) c.1760G>C c.2664G>C (p.Lys888Asn) c.2775G>C (p.Lys925Asn) c.2829G>C (p.Lys943Asn) c.59G>C c.348G>C (p.Lys116Asn) c.2718G>C (p.Lys906Asn) n.582+1686C>G c.2403G>C (p.Lys801Asn) c.2400G>C (p.Lys800Asn) n.3191G>C n.3026G>C n.600+1686C>G n.475+3574C>G | |
| 3 | g.193667234G>T | CA355797572 | OPA1 | c.2937G>T (p.Lys979Asn) c.2772G>T (p.Lys924Asn) c.2883G>T (p.Lys961Asn) c.2826G>T (p.Lys942Asn) c.2711G>T c.*997G>T (n.*997G>T) c.2454G>T (p.Lys818Asn) c.*2853G>T (n.*2853G>T) c.2359G>T c.*1256G>T (n.*1256G>T) c.2766G>T c.2787G>T (p.Lys929Asn) c.*2250G>T (n.*2250G>T) c.*1373G>T (n.*1373G>T) c.1760G>T c.2664G>T (p.Lys888Asn) c.2775G>T (p.Lys925Asn) c.2829G>T (p.Lys943Asn) c.59G>T c.348G>T (p.Lys116Asn) c.2718G>T (p.Lys906Asn) n.582+1686C>A c.2403G>T (p.Lys801Asn) c.2400G>T (p.Lys800Asn) n.3191G>T n.3026G>T n.600+1686C>A n.475+3574C>A | |
| 3 | g.193667235A= | CA1430233637 | OPA1 | c.2938A= (p.Ile980=) c.2773A= (p.Ile925=) c.2884A= (p.Ile962=) c.2827A= (p.Ile943=) c.2712A= c.*998A= (n.*998A=) c.2455A= (p.Ile819=) c.*2854A= (n.*2854A=) c.2360A= c.*1257A= (n.*1257A=) c.2767A= c.2788A= (p.Ile930=) c.*2251A= (n.*2251A=) c.*1374A= (n.*1374A=) c.1761A= c.2665A= (p.Ile889=) c.2776A= (p.Ile926=) c.2830A= (p.Ile944=) c.60A= c.349A= (p.Ile117=) c.2719A= (p.Ile907=) n.582+1685T= c.2404A= (p.Ile802=) c.2401A= (p.Ile801=) n.3192A= n.3027A= n.600+1685T= n.475+3573T= | |
| 3 | g.193667235A>C | CA355797576 | OPA1 | c.2938A>C (p.Ile980Leu) c.2773A>C (p.Ile925Leu) c.2884A>C (p.Ile962Leu) c.2827A>C (p.Ile943Leu) c.2712A>C c.*998A>C (n.*998A>C) c.2455A>C (p.Ile819Leu) c.*2854A>C (n.*2854A>C) c.2360A>C c.*1257A>C (n.*1257A>C) c.2767A>C c.2788A>C (p.Ile930Leu) c.*2251A>C (n.*2251A>C) c.*1374A>C (n.*1374A>C) c.1761A>C c.2665A>C (p.Ile889Leu) c.2776A>C (p.Ile926Leu) c.2830A>C (p.Ile944Leu) c.60A>C c.349A>C (p.Ile117Leu) c.2719A>C (p.Ile907Leu) n.582+1685T>G c.2404A>C (p.Ile802Leu) c.2401A>C (p.Ile801Leu) n.3192A>C n.3027A>C n.600+1685T>G n.475+3573T>G | |
| 3 | g.193667235A>G | CA355797579 | OPA1 | c.2938A>G (p.Ile980Val) c.2773A>G (p.Ile925Val) c.2884A>G (p.Ile962Val) c.2827A>G (p.Ile943Val) c.2712A>G c.*998A>G (n.*998A>G) c.2455A>G (p.Ile819Val) c.*2854A>G (n.*2854A>G) c.2360A>G c.*1257A>G (n.*1257A>G) c.2767A>G c.2788A>G (p.Ile930Val) c.*2251A>G (n.*2251A>G) c.*1374A>G (n.*1374A>G) c.1761A>G c.2665A>G (p.Ile889Val) c.2776A>G (p.Ile926Val) c.2830A>G (p.Ile944Val) c.60A>G c.349A>G (p.Ile117Val) c.2719A>G (p.Ile907Val) n.582+1685T>C c.2404A>G (p.Ile802Val) c.2401A>G (p.Ile801Val) n.3192A>G n.3027A>G n.600+1685T>C n.475+3573T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.193667235A>T | CA355797581 | OPA1 | c.2938A>T (p.Ile980Phe) c.2773A>T (p.Ile925Phe) c.2884A>T (p.Ile962Phe) c.2827A>T (p.Ile943Phe) c.2712A>T c.*998A>T (n.*998A>T) c.2455A>T (p.Ile819Phe) c.*2854A>T (n.*2854A>T) c.2360A>T c.*1257A>T (n.*1257A>T) c.2767A>T c.2788A>T (p.Ile930Phe) c.*2251A>T (n.*2251A>T) c.*1374A>T (n.*1374A>T) c.1761A>T c.2665A>T (p.Ile889Phe) c.2776A>T (p.Ile926Phe) c.2830A>T (p.Ile944Phe) c.60A>T c.349A>T (p.Ile117Phe) c.2719A>T (p.Ile907Phe) n.582+1685T>A c.2404A>T (p.Ile802Phe) c.2401A>T (p.Ile801Phe) n.3192A>T n.3027A>T n.600+1685T>A n.475+3573T>A | |
| 3 | g.193667236T>A | CA355797587 | OPA1 | c.2939T>A (p.Ile980Asn) c.2774T>A (p.Ile925Asn) c.2885T>A (p.Ile962Asn) c.2828T>A (p.Ile943Asn) c.2713T>A c.*999T>A (n.*999T>A) c.2456T>A (p.Ile819Asn) c.*2855T>A (n.*2855T>A) c.2361T>A c.*1258T>A (n.*1258T>A) c.2768T>A c.2789T>A (p.Ile930Asn) c.*2252T>A (n.*2252T>A) c.*1375T>A (n.*1375T>A) c.1762T>A c.2666T>A (p.Ile889Asn) c.2777T>A (p.Ile926Asn) c.2831T>A (p.Ile944Asn) c.61T>A c.350T>A (p.Ile117Asn) c.2720T>A (p.Ile907Asn) n.582+1684A>T c.2405T>A (p.Ile802Asn) c.2402T>A (p.Ile801Asn) n.3193T>A n.3028T>A n.600+1684A>T n.475+3572A>T | |
| 3 | g.193667236T>C | CA355797591 | OPA1 | c.2939T>C (p.Ile980Thr) c.2774T>C (p.Ile925Thr) c.2885T>C (p.Ile962Thr) c.2828T>C (p.Ile943Thr) c.2713T>C c.*999T>C (n.*999T>C) c.2456T>C (p.Ile819Thr) c.*2855T>C (n.*2855T>C) c.2361T>C c.*1258T>C (n.*1258T>C) c.2768T>C c.2789T>C (p.Ile930Thr) c.*2252T>C (n.*2252T>C) c.*1375T>C (n.*1375T>C) c.1762T>C c.2666T>C (p.Ile889Thr) c.2777T>C (p.Ile926Thr) c.2831T>C (p.Ile944Thr) c.61T>C c.350T>C (p.Ile117Thr) c.2720T>C (p.Ile907Thr) n.582+1684A>G c.2405T>C (p.Ile802Thr) c.2402T>C (p.Ile801Thr) n.3193T>C n.3028T>C n.600+1684A>G n.475+3572A>G | |
| 3 | g.193667236T>G | CA355797588 | OPA1 | c.2939T>G (p.Ile980Ser) c.2774T>G (p.Ile925Ser) c.2885T>G (p.Ile962Ser) c.2828T>G (p.Ile943Ser) c.2713T>G c.*999T>G (n.*999T>G) c.2456T>G (p.Ile819Ser) c.*2855T>G (n.*2855T>G) c.2361T>G c.*1258T>G (n.*1258T>G) c.2768T>G c.2789T>G (p.Ile930Ser) c.*2252T>G (n.*2252T>G) c.*1375T>G (n.*1375T>G) c.1762T>G c.2666T>G (p.Ile889Ser) c.2777T>G (p.Ile926Ser) c.2831T>G (p.Ile944Ser) c.61T>G c.350T>G (p.Ile117Ser) c.2720T>G (p.Ile907Ser) n.582+1684A>C c.2405T>G (p.Ile802Ser) c.2402T>G (p.Ile801Ser) n.3193T>G n.3028T>G n.600+1684A>C n.475+3572A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193667236T= | CA1430233640 | OPA1 | c.2939T= (p.Ile980=) c.2774T= (p.Ile925=) c.2885T= (p.Ile962=) c.2828T= (p.Ile943=) c.2713T= c.*999T= (n.*999T=) c.2456T= (p.Ile819=) c.*2855T= (n.*2855T=) c.2361T= c.*1258T= (n.*1258T=) c.2768T= c.2789T= (p.Ile930=) c.*2252T= (n.*2252T=) c.*1375T= (n.*1375T=) c.1762T= c.2666T= (p.Ile889=) c.2777T= (p.Ile926=) c.2831T= (p.Ile944=) c.61T= c.350T= (p.Ile117=) c.2720T= (p.Ile907=) n.582+1684A= c.2405T= (p.Ile802=) c.2402T= (p.Ile801=) n.3193T= n.3028T= n.600+1684A= n.475+3572A= | |
| 3 | g.193667237del | CA2573136895 | OPA1 | c.2940del (p.Lys981AsnfsTer?) c.2775del (p.Lys926AsnfsTer?) c.2886del (p.Lys963AsnfsTer?) c.2829del (p.Lys944AsnfsTer?) c.2714del c.*1000del (n.*1000del) c.2457del (p.Lys820AsnfsTer?) c.*2856del (n.*2856del) c.2775del (p.Lys926AsnfsTer16) c.2362del c.*1259del (n.*1259del) c.2769del c.2790del (p.Lys931AsnfsTer?) c.*2253del (n.*2253del) c.*1376del (n.*1376del) c.1763del c.2667del (p.Lys890AsnfsTer?) c.2778del (p.Lys927AsnfsTer?) c.2832del (p.Lys945AsnfsTer?) c.62del c.351del (p.Lys118AsnfsTer22) c.2721del (p.Lys908AsnfsTer?) c.2940del (p.Lys981AsnfsTer15) c.2886del (p.Lys963AsnfsTer15) c.2829del (p.Lys944AsnfsTer15) c.2778del (p.Lys927AsnfsTer15) c.2775del (p.Lys926AsnfsTer15) c.2667del (p.Lys890AsnfsTer15) n.582+1684del c.2406del (p.Lys803AsnfsTer?) c.2403del (p.Lys802AsnfsTer?) n.3194del n.3029del n.600+1684del n.475+3572del | ClinVar dbSNP |
| 3 | g.193667237T>A | CA437441979 | OPA1 | c.2940T>A (p.Ile980=) c.2775T>A (p.Ile925=) c.2886T>A (p.Ile962=) c.2829T>A (p.Ile943=) c.2714T>A c.*1000T>A (n.*1000T>A) c.2457T>A (p.Ile819=) c.*2856T>A (n.*2856T>A) c.2362T>A c.*1259T>A (n.*1259T>A) c.2769T>A c.2790T>A (p.Ile930=) c.*2253T>A (n.*2253T>A) c.*1376T>A (n.*1376T>A) c.1763T>A c.2667T>A (p.Ile889=) c.2778T>A (p.Ile926=) c.2832T>A (p.Ile944=) c.62T>A c.351T>A (p.Ile117=) c.2721T>A (p.Ile907=) n.582+1683A>T c.2406T>A (p.Ile802=) c.2403T>A (p.Ile801=) n.3194T>A n.3029T>A n.600+1683A>T n.475+3571A>T | gnomAD v4 |
| 3 | g.193667237T>C | CA437441980 | OPA1 | c.2940T>C (p.Ile980=) c.2775T>C (p.Ile925=) c.2886T>C (p.Ile962=) c.2829T>C (p.Ile943=) c.2714T>C c.*1000T>C (n.*1000T>C) c.2457T>C (p.Ile819=) c.*2856T>C (n.*2856T>C) c.2362T>C c.*1259T>C (n.*1259T>C) c.2769T>C c.2790T>C (p.Ile930=) c.*2253T>C (n.*2253T>C) c.*1376T>C (n.*1376T>C) c.1763T>C c.2667T>C (p.Ile889=) c.2778T>C (p.Ile926=) c.2832T>C (p.Ile944=) c.62T>C c.351T>C (p.Ile117=) c.2721T>C (p.Ile907=) n.582+1683A>G c.2406T>C (p.Ile802=) c.2403T>C (p.Ile801=) n.3194T>C n.3029T>C n.600+1683A>G n.475+3571A>G | |
| 3 | g.193667237T>G | CA355797594 | OPA1 | c.2940T>G (p.Ile980Met) c.2775T>G (p.Ile925Met) c.2886T>G (p.Ile962Met) c.2829T>G (p.Ile943Met) c.2714T>G c.*1000T>G (n.*1000T>G) c.2457T>G (p.Ile819Met) c.*2856T>G (n.*2856T>G) c.2362T>G c.*1259T>G (n.*1259T>G) c.2769T>G c.2790T>G (p.Ile930Met) c.*2253T>G (n.*2253T>G) c.*1376T>G (n.*1376T>G) c.1763T>G c.2667T>G (p.Ile889Met) c.2778T>G (p.Ile926Met) c.2832T>G (p.Ile944Met) c.62T>G c.351T>G (p.Ile117Met) c.2721T>G (p.Ile907Met) n.582+1683A>C c.2406T>G (p.Ile802Met) c.2403T>G (p.Ile801Met) n.3194T>G n.3029T>G n.600+1683A>C n.475+3571A>C | |
| 3 | g.193667238A>C | CA355797617 | OPA1 | c.2941A>C (p.Lys981Gln) c.2776A>C (p.Lys926Gln) c.2887A>C (p.Lys963Gln) c.2830A>C (p.Lys944Gln) c.2715A>C c.*1001A>C (n.*1001A>C) c.2458A>C (p.Lys820Gln) c.*2857A>C (n.*2857A>C) c.2363A>C c.*1260A>C (n.*1260A>C) c.2770A>C c.2791A>C (p.Lys931Gln) c.*2254A>C (n.*2254A>C) c.*1377A>C (n.*1377A>C) c.1764A>C c.2668A>C (p.Lys890Gln) c.2779A>C (p.Lys927Gln) c.2833A>C (p.Lys945Gln) c.63A>C c.352A>C (p.Lys118Gln) c.2722A>C (p.Lys908Gln) n.582+1682T>G c.2407A>C (p.Lys803Gln) c.2404A>C (p.Lys802Gln) n.3195A>C n.3030A>C n.600+1682T>G n.475+3570T>G | |
| 3 | g.193667238A>G | CA355797600 | OPA1 | c.2941A>G (p.Lys981Glu) c.2776A>G (p.Lys926Glu) c.2887A>G (p.Lys963Glu) c.2830A>G (p.Lys944Glu) c.2715A>G c.*1001A>G (n.*1001A>G) c.2458A>G (p.Lys820Glu) c.*2857A>G (n.*2857A>G) c.2363A>G c.*1260A>G (n.*1260A>G) c.2770A>G c.2791A>G (p.Lys931Glu) c.*2254A>G (n.*2254A>G) c.*1377A>G (n.*1377A>G) c.1764A>G c.2668A>G (p.Lys890Glu) c.2779A>G (p.Lys927Glu) c.2833A>G (p.Lys945Glu) c.63A>G c.352A>G (p.Lys118Glu) c.2722A>G (p.Lys908Glu) n.582+1682T>C c.2407A>G (p.Lys803Glu) c.2404A>G (p.Lys802Glu) n.3195A>G n.3030A>G n.600+1682T>C n.475+3570T>C | |
| 3 | g.193667238A>T | CA355797603 | OPA1 | c.2941A>T (p.Lys981Ter) c.2776A>T (p.Lys926Ter) c.2887A>T (p.Lys963Ter) c.2830A>T (p.Lys944Ter) c.2715A>T c.*1001A>T (n.*1001A>T) c.2458A>T (p.Lys820Ter) c.*2857A>T (n.*2857A>T) c.2363A>T c.*1260A>T (n.*1260A>T) c.2770A>T c.2791A>T (p.Lys931Ter) c.*2254A>T (n.*2254A>T) c.*1377A>T (n.*1377A>T) c.1764A>T c.2668A>T (p.Lys890Ter) c.2779A>T (p.Lys927Ter) c.2833A>T (p.Lys945Ter) c.63A>T c.352A>T (p.Lys118Ter) c.2722A>T (p.Lys908Ter) n.582+1682T>A c.2407A>T (p.Lys803Ter) c.2404A>T (p.Lys802Ter) n.3195A>T n.3030A>T n.600+1682T>A n.475+3570T>A | |
| 3 | g.193667239A>C | CA355797620 | OPA1 | c.2942A>C (p.Lys981Thr) c.2777A>C (p.Lys926Thr) c.2888A>C (p.Lys963Thr) c.2831A>C (p.Lys944Thr) c.2716A>C c.*1002A>C (n.*1002A>C) c.2459A>C (p.Lys820Thr) c.*2858A>C (n.*2858A>C) c.2364A>C c.*1261A>C (n.*1261A>C) c.2771A>C c.2792A>C (p.Lys931Thr) c.*2255A>C (n.*2255A>C) c.*1378A>C (n.*1378A>C) c.1765A>C c.2669A>C (p.Lys890Thr) c.2780A>C (p.Lys927Thr) c.2834A>C (p.Lys945Thr) c.64A>C c.353A>C (p.Lys118Thr) c.2723A>C (p.Lys908Thr) n.582+1681T>G c.2408A>C (p.Lys803Thr) c.2405A>C (p.Lys802Thr) n.3196A>C n.3031A>C n.600+1681T>G n.475+3569T>G | |
| 3 | g.193667239A>G | CA355797623 | OPA1 | c.2942A>G (p.Lys981Arg) c.2777A>G (p.Lys926Arg) c.2888A>G (p.Lys963Arg) c.2831A>G (p.Lys944Arg) c.2716A>G c.*1002A>G (n.*1002A>G) c.2459A>G (p.Lys820Arg) c.*2858A>G (n.*2858A>G) c.2364A>G c.*1261A>G (n.*1261A>G) c.2771A>G c.2792A>G (p.Lys931Arg) c.*2255A>G (n.*2255A>G) c.*1378A>G (n.*1378A>G) c.1765A>G c.2669A>G (p.Lys890Arg) c.2780A>G (p.Lys927Arg) c.2834A>G (p.Lys945Arg) c.64A>G c.353A>G (p.Lys118Arg) c.2723A>G (p.Lys908Arg) n.582+1681T>C c.2408A>G (p.Lys803Arg) c.2405A>G (p.Lys802Arg) n.3196A>G n.3031A>G n.600+1681T>C n.475+3569T>C | |
| 3 | g.193667239A>T | CA355797625 | OPA1 | c.2942A>T (p.Lys981Ile) c.2777A>T (p.Lys926Ile) c.2888A>T (p.Lys963Ile) c.2831A>T (p.Lys944Ile) c.2716A>T c.*1002A>T (n.*1002A>T) c.2459A>T (p.Lys820Ile) c.*2858A>T (n.*2858A>T) c.2364A>T c.*1261A>T (n.*1261A>T) c.2771A>T c.2792A>T (p.Lys931Ile) c.*2255A>T (n.*2255A>T) c.*1378A>T (n.*1378A>T) c.1765A>T c.2669A>T (p.Lys890Ile) c.2780A>T (p.Lys927Ile) c.2834A>T (p.Lys945Ile) c.64A>T c.353A>T (p.Lys118Ile) c.2723A>T (p.Lys908Ile) n.582+1681T>A c.2408A>T (p.Lys803Ile) c.2405A>T (p.Lys802Ile) n.3196A>T n.3031A>T n.600+1681T>A n.475+3569T>A | |
| 3 | g.193667240A>C | CA355797630 | OPA1 | c.2943A>C (p.Lys981Asn) c.2778A>C (p.Lys926Asn) c.2889A>C (p.Lys963Asn) c.2832A>C (p.Lys944Asn) c.2717A>C c.*1003A>C (n.*1003A>C) c.2460A>C (p.Lys820Asn) c.*2859A>C (n.*2859A>C) c.2365A>C c.*1262A>C (n.*1262A>C) c.2772A>C c.2793A>C (p.Lys931Asn) c.*2256A>C (n.*2256A>C) c.*1379A>C (n.*1379A>C) c.1766A>C c.2670A>C (p.Lys890Asn) c.2781A>C (p.Lys927Asn) c.2835A>C (p.Lys945Asn) c.65A>C c.354A>C (p.Lys118Asn) c.2724A>C (p.Lys908Asn) n.582+1680T>G c.2409A>C (p.Lys803Asn) c.2406A>C (p.Lys802Asn) n.3197A>C n.3032A>C n.600+1680T>G n.475+3568T>G | |
| 3 | g.193667240A>G | CA437441981 | OPA1 | c.2943A>G (p.Lys981=) c.2778A>G (p.Lys926=) c.2889A>G (p.Lys963=) c.2832A>G (p.Lys944=) c.2717A>G c.*1003A>G (n.*1003A>G) c.2460A>G (p.Lys820=) c.*2859A>G (n.*2859A>G) c.2365A>G c.*1262A>G (n.*1262A>G) c.2772A>G c.2793A>G (p.Lys931=) c.*2256A>G (n.*2256A>G) c.*1379A>G (n.*1379A>G) c.1766A>G c.2670A>G (p.Lys890=) c.2781A>G (p.Lys927=) c.2835A>G (p.Lys945=) c.65A>G c.354A>G (p.Lys118=) c.2724A>G (p.Lys908=) n.582+1680T>C c.2409A>G (p.Lys803=) c.2406A>G (p.Lys802=) n.3197A>G n.3032A>G n.600+1680T>C n.475+3568T>C | gnomAD v4 |
| 3 | g.193667240A>T | CA355797633 | OPA1 | c.2943A>T (p.Lys981Asn) c.2778A>T (p.Lys926Asn) c.2889A>T (p.Lys963Asn) c.2832A>T (p.Lys944Asn) c.2717A>T c.*1003A>T (n.*1003A>T) c.2460A>T (p.Lys820Asn) c.*2859A>T (n.*2859A>T) c.2365A>T c.*1262A>T (n.*1262A>T) c.2772A>T c.2793A>T (p.Lys931Asn) c.*2256A>T (n.*2256A>T) c.*1379A>T (n.*1379A>T) c.1766A>T c.2670A>T (p.Lys890Asn) c.2781A>T (p.Lys927Asn) c.2835A>T (p.Lys945Asn) c.65A>T c.354A>T (p.Lys118Asn) c.2724A>T (p.Lys908Asn) n.582+1680T>A c.2409A>T (p.Lys803Asn) c.2406A>T (p.Lys802Asn) n.3197A>T n.3032A>T n.600+1680T>A n.475+3568T>A | |
| 3 | g.193667241T>A | CA355797636 | OPA1 | c.2944T>A (p.Leu982Met) c.2779T>A (p.Leu927Met) c.2890T>A (p.Leu964Met) c.2833T>A (p.Leu945Met) c.2718T>A c.*1004T>A (n.*1004T>A) c.2461T>A (p.Leu821Met) c.*2860T>A (n.*2860T>A) c.2366T>A c.*1263T>A (n.*1263T>A) c.2773T>A c.2794T>A (p.Leu932Met) c.*2257T>A (n.*2257T>A) c.*1380T>A (n.*1380T>A) c.1767T>A c.2671T>A (p.Leu891Met) c.2782T>A (p.Leu928Met) c.2836T>A (p.Leu946Met) c.66T>A c.355T>A (p.Leu119Met) c.2725T>A (p.Leu909Met) n.582+1679A>T c.2410T>A (p.Leu804Met) c.2407T>A (p.Leu803Met) n.3198T>A n.3033T>A n.600+1679A>T n.475+3567A>T | |
| 3 | g.193667241T>C | CA437441982 | OPA1 | c.2944T>C (p.Leu982=) c.2779T>C (p.Leu927=) c.2890T>C (p.Leu964=) c.2833T>C (p.Leu945=) c.2718T>C c.*1004T>C (n.*1004T>C) c.2461T>C (p.Leu821=) c.*2860T>C (n.*2860T>C) c.2366T>C c.*1263T>C (n.*1263T>C) c.2773T>C c.2794T>C (p.Leu932=) c.*2257T>C (n.*2257T>C) c.*1380T>C (n.*1380T>C) c.1767T>C c.2671T>C (p.Leu891=) c.2782T>C (p.Leu928=) c.2836T>C (p.Leu946=) c.66T>C c.355T>C (p.Leu119=) c.2725T>C (p.Leu909=) n.582+1679A>G c.2410T>C (p.Leu804=) c.2407T>C (p.Leu803=) n.3198T>C n.3033T>C n.600+1679A>G n.475+3567A>G | |
| 3 | g.193667241T>G | CA355797639 | OPA1 | c.2944T>G (p.Leu982Val) c.2779T>G (p.Leu927Val) c.2890T>G (p.Leu964Val) c.2833T>G (p.Leu945Val) c.2718T>G c.*1004T>G (n.*1004T>G) c.2461T>G (p.Leu821Val) c.*2860T>G (n.*2860T>G) c.2366T>G c.*1263T>G (n.*1263T>G) c.2773T>G c.2794T>G (p.Leu932Val) c.*2257T>G (n.*2257T>G) c.*1380T>G (n.*1380T>G) c.1767T>G c.2671T>G (p.Leu891Val) c.2782T>G (p.Leu928Val) c.2836T>G (p.Leu946Val) c.66T>G c.355T>G (p.Leu119Val) c.2725T>G (p.Leu909Val) n.582+1679A>C c.2410T>G (p.Leu804Val) c.2407T>G (p.Leu803Val) n.3198T>G n.3033T>G n.600+1679A>C n.475+3567A>C | |
| 3 | g.193667241_193667261dup | CA2669104825 | OPA1 | c.2944_2964dup (p.Val988_Gln989insLeuLeuThrGlyLysArgVal) c.2779_2799dup (p.Val933_Gln934insLeuLeuThrGlyLysArgVal) c.2890_2910dup (p.Val970_Gln971insLeuLeuThrGlyLysArgVal) c.2833_2853dup (p.Val951_Gln952insLeuLeuThrGlyLysArgVal) c.2718_2738dup c.*1004_*1024dup (n.*1004_*1024dup) c.2461_2481dup (p.Val827_Gln828insLeuLeuThrGlyLysArgVal) c.*2860_*2880dup (n.*2860_*2880dup) c.2366_2386dup c.*1263_*1283dup (n.*1263_*1283dup) c.2773_2793dup c.2794_2814dup (p.Val938_Gln939insLeuLeuThrGlyLysArgVal) c.*2257_*2277dup (n.*2257_*2277dup) c.*1380_*1400dup (n.*1380_*1400dup) c.1767_1787dup c.2671_2691dup (p.Val897_Gln898insLeuLeuThrGlyLysArgVal) c.2782_2802dup (p.Val934_Gln935insLeuLeuThrGlyLysArgVal) c.2836_2856dup (p.Val952_Gln953insLeuLeuThrGlyLysArgVal) c.66_86dup c.355_375dup (p.Val125_Gln126insLeuLeuThrGlyLysArgVal) c.2725_2745dup (p.Val915_Gln916insLeuLeuThrGlyLysArgVal) n.582+1659_582+1679dup c.2410_2430dup (p.Val810_Gln811insLeuLeuThrGlyLysArgVal) c.2407_2427dup (p.Val809_Gln810insLeuLeuThrGlyLysArgVal) n.3198_3218dup n.3033_3053dup n.600+1659_600+1679dup n.475+3547_475+3567dup | gnomAD v4 |
| 3 | g.193667242T>A | CA355797643 | OPA1 | c.2945T>A (p.Leu982Ter) c.2780T>A (p.Leu927Ter) c.2891T>A (p.Leu964Ter) c.2834T>A (p.Leu945Ter) c.2719T>A c.*1005T>A (n.*1005T>A) c.2462T>A (p.Leu821Ter) c.*2861T>A (n.*2861T>A) c.2367T>A c.*1264T>A (n.*1264T>A) c.2774T>A c.2795T>A (p.Leu932Ter) c.*2258T>A (n.*2258T>A) c.*1381T>A (n.*1381T>A) c.1768T>A c.2672T>A (p.Leu891Ter) c.2783T>A (p.Leu928Ter) c.2837T>A (p.Leu946Ter) c.67T>A c.356T>A (p.Leu119Ter) c.2726T>A (p.Leu909Ter) n.582+1678A>T c.2411T>A (p.Leu804Ter) c.2408T>A (p.Leu803Ter) n.3199T>A n.3034T>A n.600+1678A>T n.475+3566A>T | |
| 3 | g.193667242T>C | CA355797645 | OPA1 | c.2945T>C (p.Leu982Ser) c.2780T>C (p.Leu927Ser) c.2891T>C (p.Leu964Ser) c.2834T>C (p.Leu945Ser) c.2719T>C c.*1005T>C (n.*1005T>C) c.2462T>C (p.Leu821Ser) c.*2861T>C (n.*2861T>C) c.2367T>C c.*1264T>C (n.*1264T>C) c.2774T>C c.2795T>C (p.Leu932Ser) c.*2258T>C (n.*2258T>C) c.*1381T>C (n.*1381T>C) c.1768T>C c.2672T>C (p.Leu891Ser) c.2783T>C (p.Leu928Ser) c.2837T>C (p.Leu946Ser) c.67T>C c.356T>C (p.Leu119Ser) c.2726T>C (p.Leu909Ser) n.582+1678A>G c.2411T>C (p.Leu804Ser) c.2408T>C (p.Leu803Ser) n.3199T>C n.3034T>C n.600+1678A>G n.475+3566A>G | |
| 3 | g.193667242T>G | CA355797648 | OPA1 | c.2945T>G (p.Leu982Trp) c.2780T>G (p.Leu927Trp) c.2891T>G (p.Leu964Trp) c.2834T>G (p.Leu945Trp) c.2719T>G c.*1005T>G (n.*1005T>G) c.2462T>G (p.Leu821Trp) c.*2861T>G (n.*2861T>G) c.2367T>G c.*1264T>G (n.*1264T>G) c.2774T>G c.2795T>G (p.Leu932Trp) c.*2258T>G (n.*2258T>G) c.*1381T>G (n.*1381T>G) c.1768T>G c.2672T>G (p.Leu891Trp) c.2783T>G (p.Leu928Trp) c.2837T>G (p.Leu946Trp) c.67T>G c.356T>G (p.Leu119Trp) c.2726T>G (p.Leu909Trp) n.582+1678A>C c.2411T>G (p.Leu804Trp) c.2408T>G (p.Leu803Trp) n.3199T>G n.3034T>G n.600+1678A>C n.475+3566A>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.193667242_193667243insAACCTATATATATGGA | CA2568386672 | OPA1 | c.2945_2946insAACCTATATATATGGA (p.Leu983ThrfsTer9) c.2780_2781insAACCTATATATATGGA (p.Leu928ThrfsTer9) c.2891_2892insAACCTATATATATGGA (p.Leu965ThrfsTer9) c.2834_2835insAACCTATATATATGGA (p.Leu946ThrfsTer9) c.2719_2720insAACCTATATATATGGA c.*1005_*1006insAACCTATATATATGGA (n.*1005_*1006insAACCTATATATATGGA) c.2462_2463insAACCTATATATATGGA (p.Leu822ThrfsTer9) c.*2861_*2862insAACCTATATATATGGA (n.*2861_*2862insAACCTATATATATGGA) c.2367_2368insAACCTATATATATGGA c.*1264_*1265insAACCTATATATATGGA (n.*1264_*1265insAACCTATATATATGGA) c.2774_2775insAACCTATATATATGGA c.2795_2796insAACCTATATATATGGA (p.Leu933ThrfsTer9) c.*2258_*2259insAACCTATATATATGGA (n.*2258_*2259insAACCTATATATATGGA) c.*1381_*1382insAACCTATATATATGGA (n.*1381_*1382insAACCTATATATATGGA) c.1768_1769insAACCTATATATATGGA c.2672_2673insAACCTATATATATGGA (p.Leu892ThrfsTer9) c.2783_2784insAACCTATATATATGGA (p.Leu929ThrfsTer9) c.2837_2838insAACCTATATATATGGA (p.Leu947ThrfsTer9) c.67_68insAACCTATATATATGGA c.356_357insAACCTATATATATGGA (p.Leu120ThrfsTer9) c.2726_2727insAACCTATATATATGGA (p.Leu910ThrfsTer9) n.582+1677_582+1678insTCCATATATATAGGTT c.2411_2412insAACCTATATATATGGA (p.Leu805ThrfsTer9) c.2408_2409insAACCTATATATATGGA (p.Leu804ThrfsTer9) n.3199_3200insAACCTATATATATGGA n.3034_3035insAACCTATATATATGGA n.600+1677_600+1678insTCCATATATATAGGTT n.475+3565_475+3566insTCCATATATATAGGTT | |
| 3 | g.193667243G>A | CA437441983 | OPA1 | c.2946G>A (p.Leu982=) c.2781G>A (p.Leu927=) c.2892G>A (p.Leu964=) c.2835G>A (p.Leu945=) c.2720G>A c.*1006G>A (n.*1006G>A) c.2463G>A (p.Leu821=) c.*2862G>A (n.*2862G>A) c.2368G>A c.*1265G>A (n.*1265G>A) c.2775G>A c.2796G>A (p.Leu932=) c.*2259G>A (n.*2259G>A) c.*1382G>A (n.*1382G>A) c.1769G>A c.2673G>A (p.Leu891=) c.2784G>A (p.Leu928=) c.2838G>A (p.Leu946=) c.68G>A c.357G>A (p.Leu119=) c.2727G>A (p.Leu909=) n.582+1677C>T c.2412G>A (p.Leu804=) c.2409G>A (p.Leu803=) n.3200G>A n.3035G>A n.600+1677C>T n.475+3565C>T | gnomAD v4 COSMIC |
| 3 | g.193667243G>C | CA355797650 | OPA1 | c.2946G>C (p.Leu982Phe) c.2781G>C (p.Leu927Phe) c.2892G>C (p.Leu964Phe) c.2835G>C (p.Leu945Phe) c.2720G>C c.*1006G>C (n.*1006G>C) c.2463G>C (p.Leu821Phe) c.*2862G>C (n.*2862G>C) c.2368G>C c.*1265G>C (n.*1265G>C) c.2775G>C c.2796G>C (p.Leu932Phe) c.*2259G>C (n.*2259G>C) c.*1382G>C (n.*1382G>C) c.1769G>C c.2673G>C (p.Leu891Phe) c.2784G>C (p.Leu928Phe) c.2838G>C (p.Leu946Phe) c.68G>C c.357G>C (p.Leu119Phe) c.2727G>C (p.Leu909Phe) n.582+1677C>G c.2412G>C (p.Leu804Phe) c.2409G>C (p.Leu803Phe) n.3200G>C n.3035G>C n.600+1677C>G n.475+3565C>G | |
| 3 | g.193667243G>T | CA355797653 | OPA1 | c.2946G>T (p.Leu982Phe) c.2781G>T (p.Leu927Phe) c.2892G>T (p.Leu964Phe) c.2835G>T (p.Leu945Phe) c.2720G>T c.*1006G>T (n.*1006G>T) c.2463G>T (p.Leu821Phe) c.*2862G>T (n.*2862G>T) c.2368G>T c.*1265G>T (n.*1265G>T) c.2775G>T c.2796G>T (p.Leu932Phe) c.*2259G>T (n.*2259G>T) c.*1382G>T (n.*1382G>T) c.1769G>T c.2673G>T (p.Leu891Phe) c.2784G>T (p.Leu928Phe) c.2838G>T (p.Leu946Phe) c.68G>T c.357G>T (p.Leu119Phe) c.2727G>T (p.Leu909Phe) n.582+1677C>A c.2412G>T (p.Leu804Phe) c.2409G>T (p.Leu803Phe) n.3200G>T n.3035G>T n.600+1677C>A n.475+3565C>A | |
| 3 | g.193667244C>A | CA355797667 | OPA1 | c.2947C>A (p.Leu983Ile) c.2782C>A (p.Leu928Ile) c.2893C>A (p.Leu965Ile) c.2836C>A (p.Leu946Ile) c.2721C>A c.*1007C>A (n.*1007C>A) c.2464C>A (p.Leu822Ile) c.*2863C>A (n.*2863C>A) c.2369C>A c.*1266C>A (n.*1266C>A) c.2776C>A c.2797C>A (p.Leu933Ile) c.*2260C>A (n.*2260C>A) c.*1383C>A (n.*1383C>A) c.1770C>A c.2674C>A (p.Leu892Ile) c.2785C>A (p.Leu929Ile) c.2839C>A (p.Leu947Ile) c.69C>A c.358C>A (p.Leu120Ile) c.2728C>A (p.Leu910Ile) n.582+1676G>T c.2413C>A (p.Leu805Ile) c.2410C>A (p.Leu804Ile) n.3201C>A n.3036C>A n.600+1676G>T n.475+3564G>T | gnomAD v4 |
| 3 | g.193667244C>G | CA355797659 | OPA1 | c.2947C>G (p.Leu983Val) c.2782C>G (p.Leu928Val) c.2893C>G (p.Leu965Val) c.2836C>G (p.Leu946Val) c.2721C>G c.*1007C>G (n.*1007C>G) c.2464C>G (p.Leu822Val) c.*2863C>G (n.*2863C>G) c.2369C>G c.*1266C>G (n.*1266C>G) c.2776C>G c.2797C>G (p.Leu933Val) c.*2260C>G (n.*2260C>G) c.*1383C>G (n.*1383C>G) c.1770C>G c.2674C>G (p.Leu892Val) c.2785C>G (p.Leu929Val) c.2839C>G (p.Leu947Val) c.69C>G c.358C>G (p.Leu120Val) c.2728C>G (p.Leu910Val) n.582+1676G>C c.2413C>G (p.Leu805Val) c.2410C>G (p.Leu804Val) n.3201C>G n.3036C>G n.600+1676G>C n.475+3564G>C | |
| 3 | g.193667244C>T | CA355797662 | OPA1 | c.2947C>T (p.Leu983Phe) c.2782C>T (p.Leu928Phe) c.2893C>T (p.Leu965Phe) c.2836C>T (p.Leu946Phe) c.2721C>T c.*1007C>T (n.*1007C>T) c.2464C>T (p.Leu822Phe) c.*2863C>T (n.*2863C>T) c.2369C>T c.*1266C>T (n.*1266C>T) c.2776C>T c.2797C>T (p.Leu933Phe) c.*2260C>T (n.*2260C>T) c.*1383C>T (n.*1383C>T) c.1770C>T c.2674C>T (p.Leu892Phe) c.2785C>T (p.Leu929Phe) c.2839C>T (p.Leu947Phe) c.69C>T c.358C>T (p.Leu120Phe) c.2728C>T (p.Leu910Phe) n.582+1676G>A c.2413C>T (p.Leu805Phe) c.2410C>T (p.Leu804Phe) n.3201C>T n.3036C>T n.600+1676G>A n.475+3564G>A | |
| 3 | g.193667245T>A | CA355797671 | OPA1 | c.2948T>A (p.Leu983His) c.2783T>A (p.Leu928His) c.2894T>A (p.Leu965His) c.2837T>A (p.Leu946His) c.2722T>A c.*1008T>A (n.*1008T>A) c.2465T>A (p.Leu822His) c.*2864T>A (n.*2864T>A) c.2370T>A c.*1267T>A (n.*1267T>A) c.2777T>A c.2798T>A (p.Leu933His) c.*2261T>A (n.*2261T>A) c.*1384T>A (n.*1384T>A) c.1771T>A c.2675T>A (p.Leu892His) c.2786T>A (p.Leu929His) c.2840T>A (p.Leu947His) c.70T>A c.359T>A (p.Leu120His) c.2729T>A (p.Leu910His) n.582+1675A>T c.2414T>A (p.Leu805His) c.2411T>A (p.Leu804His) n.3202T>A n.3037T>A n.600+1675A>T n.475+3563A>T | |
| 3 | g.193667245T>C | CA90558317 | OPA1 | c.2948T>C (p.Leu983Pro) c.2783T>C (p.Leu928Pro) c.2894T>C (p.Leu965Pro) c.2837T>C (p.Leu946Pro) c.2722T>C c.*1008T>C (n.*1008T>C) c.2465T>C (p.Leu822Pro) c.*2864T>C (n.*2864T>C) c.2370T>C c.*1267T>C (n.*1267T>C) c.2777T>C c.2798T>C (p.Leu933Pro) c.*2261T>C (n.*2261T>C) c.*1384T>C (n.*1384T>C) c.1771T>C c.2675T>C (p.Leu892Pro) c.2786T>C (p.Leu929Pro) c.2840T>C (p.Leu947Pro) c.70T>C c.359T>C (p.Leu120Pro) c.2729T>C (p.Leu910Pro) n.582+1675A>G c.2414T>C (p.Leu805Pro) c.2411T>C (p.Leu804Pro) n.3202T>C n.3037T>C n.600+1675A>G n.475+3563A>G | dbSNP |
| 3 | g.193667245T>G | CA355797678 | OPA1 | c.2948T>G (p.Leu983Arg) c.2783T>G (p.Leu928Arg) c.2894T>G (p.Leu965Arg) c.2837T>G (p.Leu946Arg) c.2722T>G c.*1008T>G (n.*1008T>G) c.2465T>G (p.Leu822Arg) c.*2864T>G (n.*2864T>G) c.2370T>G c.*1267T>G (n.*1267T>G) c.2777T>G c.2798T>G (p.Leu933Arg) c.*2261T>G (n.*2261T>G) c.*1384T>G (n.*1384T>G) c.1771T>G c.2675T>G (p.Leu892Arg) c.2786T>G (p.Leu929Arg) c.2840T>G (p.Leu947Arg) c.70T>G c.359T>G (p.Leu120Arg) c.2729T>G (p.Leu910Arg) n.582+1675A>C c.2414T>G (p.Leu805Arg) c.2411T>G (p.Leu804Arg) n.3202T>G n.3037T>G n.600+1675A>C n.475+3563A>C | |
| 3 | g.193667245T= | CA1430233641 | OPA1 | c.2948T= (p.Leu983=) c.2783T= (p.Leu928=) c.2894T= (p.Leu965=) c.2837T= (p.Leu946=) c.2722T= c.*1008T= (n.*1008T=) c.2465T= (p.Leu822=) c.*2864T= (n.*2864T=) c.2370T= c.*1267T= (n.*1267T=) c.2777T= c.2798T= (p.Leu933=) c.*2261T= (n.*2261T=) c.*1384T= (n.*1384T=) c.1771T= c.2675T= (p.Leu892=) c.2786T= (p.Leu929=) c.2840T= (p.Leu947=) c.70T= c.359T= (p.Leu120=) c.2729T= (p.Leu910=) n.582+1675A= c.2414T= (p.Leu805=) c.2411T= (p.Leu804=) n.3202T= n.3037T= n.600+1675A= n.475+3563A= | |
| 3 | g.193667246del | CA2669104826 | OPA1 | c.2949del (p.Thr984LeufsTer?) c.2784del (p.Thr929LeufsTer?) c.2895del (p.Thr966LeufsTer?) c.2838del (p.Thr947LeufsTer?) c.2723del c.*1009del (n.*1009del) c.2466del (p.Thr823LeufsTer?) c.*2865del (n.*2865del) c.2784del (p.Thr929LeufsTer13) c.2371del c.*1268del (n.*1268del) c.2778del c.2799del (p.Thr934LeufsTer?) c.*2262del (n.*2262del) c.*1385del (n.*1385del) c.1772del c.2676del (p.Thr893LeufsTer?) c.2787del (p.Thr930LeufsTer?) c.2841del (p.Thr948LeufsTer?) c.71del c.360del (p.Thr121LeufsTer19) c.2730del (p.Thr911LeufsTer?) c.2949del (p.Thr984LeufsTer12) c.2895del (p.Thr966LeufsTer12) c.2838del (p.Thr947LeufsTer12) c.2787del (p.Thr930LeufsTer12) c.2784del (p.Thr929LeufsTer12) c.2676del (p.Thr893LeufsTer12) n.582+1675del c.2415del (p.Thr806LeufsTer?) c.2412del (p.Thr805LeufsTer?) n.3203del n.3038del n.600+1675del n.475+3563del | gnomAD v4 |
| 3 | g.193667246T>A | CA437441984 | OPA1 | c.2949T>A (p.Leu983=) c.2784T>A (p.Leu928=) c.2895T>A (p.Leu965=) c.2838T>A (p.Leu946=) c.2723T>A c.*1009T>A (n.*1009T>A) c.2466T>A (p.Leu822=) c.*2865T>A (n.*2865T>A) c.2371T>A c.*1268T>A (n.*1268T>A) c.2778T>A c.2799T>A (p.Leu933=) c.*2262T>A (n.*2262T>A) c.*1385T>A (n.*1385T>A) c.1772T>A c.2676T>A (p.Leu892=) c.2787T>A (p.Leu929=) c.2841T>A (p.Leu947=) c.71T>A c.360T>A (p.Leu120=) c.2730T>A (p.Leu910=) n.582+1674A>T c.2415T>A (p.Leu805=) c.2412T>A (p.Leu804=) n.3203T>A n.3038T>A n.600+1674A>T n.475+3562A>T | |
| 3 | g.193667246T>C | CA437441985 | OPA1 | c.2949T>C (p.Leu983=) c.2784T>C (p.Leu928=) c.2895T>C (p.Leu965=) c.2838T>C (p.Leu946=) c.2723T>C c.*1009T>C (n.*1009T>C) c.2466T>C (p.Leu822=) c.*2865T>C (n.*2865T>C) c.2371T>C c.*1268T>C (n.*1268T>C) c.2778T>C c.2799T>C (p.Leu933=) c.*2262T>C (n.*2262T>C) c.*1385T>C (n.*1385T>C) c.1772T>C c.2676T>C (p.Leu892=) c.2787T>C (p.Leu929=) c.2841T>C (p.Leu947=) c.71T>C c.360T>C (p.Leu120=) c.2730T>C (p.Leu910=) n.582+1674A>G c.2415T>C (p.Leu805=) c.2412T>C (p.Leu804=) n.3203T>C n.3038T>C n.600+1674A>G n.475+3562A>G | |
| 3 | g.193667246T>G | CA437441986 | OPA1 | c.2949T>G (p.Leu983=) c.2784T>G (p.Leu928=) c.2895T>G (p.Leu965=) c.2838T>G (p.Leu946=) c.2723T>G c.*1009T>G (n.*1009T>G) c.2466T>G (p.Leu822=) c.*2865T>G (n.*2865T>G) c.2371T>G c.*1268T>G (n.*1268T>G) c.2778T>G c.2799T>G (p.Leu933=) c.*2262T>G (n.*2262T>G) c.*1385T>G (n.*1385T>G) c.1772T>G c.2676T>G (p.Leu892=) c.2787T>G (p.Leu929=) c.2841T>G (p.Leu947=) c.71T>G c.360T>G (p.Leu120=) c.2730T>G (p.Leu910=) n.582+1674A>C c.2415T>G (p.Leu805=) c.2412T>G (p.Leu804=) n.3203T>G n.3038T>G n.600+1674A>C n.475+3562A>C | |
| 3 | g.193667246_193667247del | CA2577995330 | OPA1 | c.2949_2950del (p.Thr984TrpfsTer2) c.2784_2785del (p.Thr929TrpfsTer2) c.2895_2896del (p.Thr966TrpfsTer2) c.2838_2839del (p.Thr947TrpfsTer2) c.2723_2724del c.*1009_*1010del (n.*1009_*1010del) c.2466_2467del (p.Thr823TrpfsTer2) c.*2865_*2866del (n.*2865_*2866del) c.2371_2372del c.*1268_*1269del (n.*1268_*1269del) c.2778_2779del c.2799_2800del (p.Thr934TrpfsTer2) c.*2262_*2263del (n.*2262_*2263del) c.*1385_*1386del (n.*1385_*1386del) c.1772_1773del c.2676_2677del (p.Thr893TrpfsTer2) c.2787_2788del (p.Thr930TrpfsTer2) c.2841_2842del (p.Thr948TrpfsTer2) c.71_72del c.360_361del (p.Thr121TrpfsTer2) c.2730_2731del (p.Thr911TrpfsTer2) n.582+1673_582+1674del c.2415_2416del (p.Thr806TrpfsTer2) c.2412_2413del (p.Thr805TrpfsTer2) n.3203_3204del n.3038_3039del n.600+1673_600+1674del n.475+3561_475+3562del | |
| 3 | g.193667247A>C | CA355797686 | OPA1 | c.2950A>C (p.Thr984Pro) c.2785A>C (p.Thr929Pro) c.2896A>C (p.Thr966Pro) c.2839A>C (p.Thr947Pro) c.2724A>C c.*1010A>C (n.*1010A>C) c.2467A>C (p.Thr823Pro) c.*2866A>C (n.*2866A>C) c.2372A>C c.*1269A>C (n.*1269A>C) c.2779A>C c.2800A>C (p.Thr934Pro) c.*2263A>C (n.*2263A>C) c.*1386A>C (n.*1386A>C) c.1773A>C c.2677A>C (p.Thr893Pro) c.2788A>C (p.Thr930Pro) c.2842A>C (p.Thr948Pro) c.72A>C c.361A>C (p.Thr121Pro) c.2731A>C (p.Thr911Pro) n.582+1673T>G c.2416A>C (p.Thr806Pro) c.2413A>C (p.Thr805Pro) n.3204A>C n.3039A>C n.600+1673T>G n.475+3561T>G | |
| 3 | g.193667247A>G | CA355797688 | OPA1 | c.2950A>G (p.Thr984Ala) c.2785A>G (p.Thr929Ala) c.2896A>G (p.Thr966Ala) c.2839A>G (p.Thr947Ala) c.2724A>G c.*1010A>G (n.*1010A>G) c.2467A>G (p.Thr823Ala) c.*2866A>G (n.*2866A>G) c.2372A>G c.*1269A>G (n.*1269A>G) c.2779A>G c.2800A>G (p.Thr934Ala) c.*2263A>G (n.*2263A>G) c.*1386A>G (n.*1386A>G) c.1773A>G c.2677A>G (p.Thr893Ala) c.2788A>G (p.Thr930Ala) c.2842A>G (p.Thr948Ala) c.72A>G c.361A>G (p.Thr121Ala) c.2731A>G (p.Thr911Ala) n.582+1673T>C c.2416A>G (p.Thr806Ala) c.2413A>G (p.Thr805Ala) n.3204A>G n.3039A>G n.600+1673T>C n.475+3561T>C | |
| 3 | g.193667247A>T | CA355797691 | OPA1 | c.2950A>T (p.Thr984Ser) c.2785A>T (p.Thr929Ser) c.2896A>T (p.Thr966Ser) c.2839A>T (p.Thr947Ser) c.2724A>T c.*1010A>T (n.*1010A>T) c.2467A>T (p.Thr823Ser) c.*2866A>T (n.*2866A>T) c.2372A>T c.*1269A>T (n.*1269A>T) c.2779A>T c.2800A>T (p.Thr934Ser) c.*2263A>T (n.*2263A>T) c.*1386A>T (n.*1386A>T) c.1773A>T c.2677A>T (p.Thr893Ser) c.2788A>T (p.Thr930Ser) c.2842A>T (p.Thr948Ser) c.72A>T c.361A>T (p.Thr121Ser) c.2731A>T (p.Thr911Ser) n.582+1673T>A c.2416A>T (p.Thr806Ser) c.2413A>T (p.Thr805Ser) n.3204A>T n.3039A>T n.600+1673T>A n.475+3561T>A | |
| 3 | g.193667249_193667256del | CA2586973388 | OPA1 | c.2952_2959del (p.Gly985ArgfsTer11) c.2787_2794del (p.Gly930ArgfsTer11) c.2898_2905del (p.Gly967ArgfsTer11) c.2787_2794del (p.Gly930ArgfsTer?) c.2841_2848del (p.Gly948ArgfsTer11) c.2726_2733del c.*1012_*1019del (n.*1012_*1019del) c.2469_2476del (p.Gly824ArgfsTer11) c.*2868_*2875del (n.*2868_*2875del) c.2787_2794del (p.Gly930ArgfsTer16) c.2374_2381del c.*1271_*1278del (n.*1271_*1278del) c.2781_2788del c.2802_2809del (p.Gly935ArgfsTer11) c.*2265_*2272del (n.*2265_*2272del) c.*1388_*1395del (n.*1388_*1395del) c.1775_1782del c.2679_2686del (p.Gly894ArgfsTer11) c.2790_2797del (p.Gly931ArgfsTer11) c.2844_2851del (p.Gly949ArgfsTer11) c.74_81del c.363_370del (p.Gly122ArgfsTer23) c.2733_2740del (p.Gly912ArgfsTer11) c.2952_2959del (p.Gly985ArgfsTer15) c.2898_2905del (p.Gly967ArgfsTer15) c.2841_2848del (p.Gly948ArgfsTer15) c.2790_2797del (p.Gly931ArgfsTer15) c.2787_2794del (p.Gly930ArgfsTer15) c.2679_2686del (p.Gly894ArgfsTer15) n.582+1666_582+1673del c.2418_2425del (p.Gly807ArgfsTer11) c.2415_2422del (p.Gly806ArgfsTer11) n.3206_3213del n.3041_3048del n.600+1666_600+1673del n.475+3554_475+3561del | |
| 3 | g.193667248C>A | CA355797697 | OPA1 | c.2951C>A (p.Thr984Asn) c.2786C>A (p.Thr929Asn) c.2897C>A (p.Thr966Asn) c.2840C>A (p.Thr947Asn) c.2725C>A c.*1011C>A (n.*1011C>A) c.2468C>A (p.Thr823Asn) c.*2867C>A (n.*2867C>A) c.2373C>A c.*1270C>A (n.*1270C>A) c.2780C>A c.2801C>A (p.Thr934Asn) c.*2264C>A (n.*2264C>A) c.*1387C>A (n.*1387C>A) c.1774C>A c.2678C>A (p.Thr893Asn) c.2789C>A (p.Thr930Asn) c.2843C>A (p.Thr948Asn) c.73C>A c.362C>A (p.Thr121Asn) c.2732C>A (p.Thr911Asn) n.582+1672G>T c.2417C>A (p.Thr806Asn) c.2414C>A (p.Thr805Asn) n.3205C>A n.3040C>A n.600+1672G>T n.475+3560G>T | gnomAD v4 |
| 3 | g.193667248C>G | CA355797699 | OPA1 | c.2951C>G (p.Thr984Ser) c.2786C>G (p.Thr929Ser) c.2897C>G (p.Thr966Ser) c.2840C>G (p.Thr947Ser) c.2725C>G c.*1011C>G (n.*1011C>G) c.2468C>G (p.Thr823Ser) c.*2867C>G (n.*2867C>G) c.2373C>G c.*1270C>G (n.*1270C>G) c.2780C>G c.2801C>G (p.Thr934Ser) c.*2264C>G (n.*2264C>G) c.*1387C>G (n.*1387C>G) c.1774C>G c.2678C>G (p.Thr893Ser) c.2789C>G (p.Thr930Ser) c.2843C>G (p.Thr948Ser) c.73C>G c.362C>G (p.Thr121Ser) c.2732C>G (p.Thr911Ser) n.582+1672G>C c.2417C>G (p.Thr806Ser) c.2414C>G (p.Thr805Ser) n.3205C>G n.3040C>G n.600+1672G>C n.475+3560G>C | ClinVar dbSNP |
| 3 | g.193667248C>T | CA355797702 | OPA1 | c.2951C>T (p.Thr984Ile) c.2786C>T (p.Thr929Ile) c.2897C>T (p.Thr966Ile) c.2840C>T (p.Thr947Ile) c.2725C>T c.*1011C>T (n.*1011C>T) c.2468C>T (p.Thr823Ile) c.*2867C>T (n.*2867C>T) c.2373C>T c.*1270C>T (n.*1270C>T) c.2780C>T c.2801C>T (p.Thr934Ile) c.*2264C>T (n.*2264C>T) c.*1387C>T (n.*1387C>T) c.1774C>T c.2678C>T (p.Thr893Ile) c.2789C>T (p.Thr930Ile) c.2843C>T (p.Thr948Ile) c.73C>T c.362C>T (p.Thr121Ile) c.2732C>T (p.Thr911Ile) n.582+1672G>A c.2417C>T (p.Thr806Ile) c.2414C>T (p.Thr805Ile) n.3205C>T n.3040C>T n.600+1672G>A n.475+3560G>A | |
| 3 | g.193667249T>A | CA437441987 | OPA1 | c.2952T>A (p.Thr984=) c.2787T>A (p.Thr929=) c.2898T>A (p.Thr966=) c.2841T>A (p.Thr947=) c.2726T>A c.*1012T>A (n.*1012T>A) c.2469T>A (p.Thr823=) c.*2868T>A (n.*2868T>A) c.2374T>A c.*1271T>A (n.*1271T>A) c.2781T>A c.2802T>A (p.Thr934=) c.*2265T>A (n.*2265T>A) c.*1388T>A (n.*1388T>A) c.1775T>A c.2679T>A (p.Thr893=) c.2790T>A (p.Thr930=) c.2844T>A (p.Thr948=) c.74T>A c.363T>A (p.Thr121=) c.2733T>A (p.Thr911=) n.582+1671A>T c.2418T>A (p.Thr806=) c.2415T>A (p.Thr805=) n.3206T>A n.3041T>A n.600+1671A>T n.475+3559A>T | gnomAD v4 |
| 3 | g.193667249T>C | CA437441988 | OPA1 | c.2952T>C (p.Thr984=) c.2787T>C (p.Thr929=) c.2898T>C (p.Thr966=) c.2841T>C (p.Thr947=) c.2726T>C c.*1012T>C (n.*1012T>C) c.2469T>C (p.Thr823=) c.*2868T>C (n.*2868T>C) c.2374T>C c.*1271T>C (n.*1271T>C) c.2781T>C c.2802T>C (p.Thr934=) c.*2265T>C (n.*2265T>C) c.*1388T>C (n.*1388T>C) c.1775T>C c.2679T>C (p.Thr893=) c.2790T>C (p.Thr930=) c.2844T>C (p.Thr948=) c.74T>C c.363T>C (p.Thr121=) c.2733T>C (p.Thr911=) n.582+1671A>G c.2418T>C (p.Thr806=) c.2415T>C (p.Thr805=) n.3206T>C n.3041T>C n.600+1671A>G n.475+3559A>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.193667249T>G | CA437441989 | OPA1 | c.2952T>G (p.Thr984=) c.2787T>G (p.Thr929=) c.2898T>G (p.Thr966=) c.2841T>G (p.Thr947=) c.2726T>G c.*1012T>G (n.*1012T>G) c.2469T>G (p.Thr823=) c.*2868T>G (n.*2868T>G) c.2374T>G c.*1271T>G (n.*1271T>G) c.2781T>G c.2802T>G (p.Thr934=) c.*2265T>G (n.*2265T>G) c.*1388T>G (n.*1388T>G) c.1775T>G c.2679T>G (p.Thr893=) c.2790T>G (p.Thr930=) c.2844T>G (p.Thr948=) c.74T>G c.363T>G (p.Thr121=) c.2733T>G (p.Thr911=) n.582+1671A>C c.2418T>G (p.Thr806=) c.2415T>G (p.Thr805=) n.3206T>G n.3041T>G n.600+1671A>C n.475+3559A>C | |
| 3 | g.193667249T= | CA1430233645 | OPA1 | c.2952T= (p.Thr984=) c.2787T= (p.Thr929=) c.2898T= (p.Thr966=) c.2841T= (p.Thr947=) c.2726T= c.*1012T= (n.*1012T=) c.2469T= (p.Thr823=) c.*2868T= (n.*2868T=) c.2374T= c.*1271T= (n.*1271T=) c.2781T= c.2802T= (p.Thr934=) c.*2265T= (n.*2265T=) c.*1388T= (n.*1388T=) c.1775T= c.2679T= (p.Thr893=) c.2790T= (p.Thr930=) c.2844T= (p.Thr948=) c.74T= c.363T= (p.Thr121=) c.2733T= (p.Thr911=) n.582+1671A= c.2418T= (p.Thr806=) c.2415T= (p.Thr805=) n.3206T= n.3041T= n.600+1671A= n.475+3559A= | |
| 3 | g.193667250G>A | CA355797707 | OPA1 | c.2953G>A (p.Gly985Ser) c.2788G>A (p.Gly930Ser) c.2899G>A (p.Gly967Ser) c.2842G>A (p.Gly948Ser) c.2727G>A c.*1013G>A (n.*1013G>A) c.2470G>A (p.Gly824Ser) c.*2869G>A (n.*2869G>A) c.2375G>A c.*1272G>A (n.*1272G>A) c.2782G>A c.2803G>A (p.Gly935Ser) c.*2266G>A (n.*2266G>A) c.*1389G>A (n.*1389G>A) c.1776G>A c.2680G>A (p.Gly894Ser) c.2791G>A (p.Gly931Ser) c.2845G>A (p.Gly949Ser) c.75G>A c.364G>A (p.Gly122Ser) c.2734G>A (p.Gly912Ser) n.582+1670C>T c.2419G>A (p.Gly807Ser) c.2416G>A (p.Gly806Ser) n.3207G>A n.3042G>A n.600+1670C>T n.475+3558C>T | |
| 3 | g.193667250G>C | CA355797709 | OPA1 | c.2953G>C (p.Gly985Arg) c.2788G>C (p.Gly930Arg) c.2899G>C (p.Gly967Arg) c.2842G>C (p.Gly948Arg) c.2727G>C c.*1013G>C (n.*1013G>C) c.2470G>C (p.Gly824Arg) c.*2869G>C (n.*2869G>C) c.2375G>C c.*1272G>C (n.*1272G>C) c.2782G>C c.2803G>C (p.Gly935Arg) c.*2266G>C (n.*2266G>C) c.*1389G>C (n.*1389G>C) c.1776G>C c.2680G>C (p.Gly894Arg) c.2791G>C (p.Gly931Arg) c.2845G>C (p.Gly949Arg) c.75G>C c.364G>C (p.Gly122Arg) c.2734G>C (p.Gly912Arg) n.582+1670C>G c.2419G>C (p.Gly807Arg) c.2416G>C (p.Gly806Arg) n.3207G>C n.3042G>C n.600+1670C>G n.475+3558C>G | |
| 3 | g.193667250G>T | CA355797710 | OPA1 | c.2953G>T (p.Gly985Cys) c.2788G>T (p.Gly930Cys) c.2899G>T (p.Gly967Cys) c.2842G>T (p.Gly948Cys) c.2727G>T c.*1013G>T (n.*1013G>T) c.2470G>T (p.Gly824Cys) c.*2869G>T (n.*2869G>T) c.2375G>T c.*1272G>T (n.*1272G>T) c.2782G>T c.2803G>T (p.Gly935Cys) c.*2266G>T (n.*2266G>T) c.*1389G>T (n.*1389G>T) c.1776G>T c.2680G>T (p.Gly894Cys) c.2791G>T (p.Gly931Cys) c.2845G>T (p.Gly949Cys) c.75G>T c.364G>T (p.Gly122Cys) c.2734G>T (p.Gly912Cys) n.582+1670C>A c.2419G>T (p.Gly807Cys) c.2416G>T (p.Gly806Cys) n.3207G>T n.3042G>T n.600+1670C>A n.475+3558C>A | |
| 3 | g.193667251G>A | CA355797716 | OPA1 | c.2954G>A (p.Gly985Asp) c.2789G>A (p.Gly930Asp) c.2900G>A (p.Gly967Asp) c.2843G>A (p.Gly948Asp) c.2728G>A c.*1014G>A (n.*1014G>A) c.2471G>A (p.Gly824Asp) c.*2870G>A (n.*2870G>A) c.2376G>A c.*1273G>A (n.*1273G>A) c.2783G>A c.2804G>A (p.Gly935Asp) c.*2267G>A (n.*2267G>A) c.*1390G>A (n.*1390G>A) c.1777G>A c.2681G>A (p.Gly894Asp) c.2792G>A (p.Gly931Asp) c.2846G>A (p.Gly949Asp) c.76G>A c.365G>A (p.Gly122Asp) c.2735G>A (p.Gly912Asp) n.582+1669C>T c.2420G>A (p.Gly807Asp) c.2417G>A (p.Gly806Asp) n.3208G>A n.3043G>A n.600+1669C>T n.475+3557C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.193667251G>C | CA355797728 | OPA1 | c.2954G>C (p.Gly985Ala) c.2789G>C (p.Gly930Ala) c.2900G>C (p.Gly967Ala) c.2843G>C (p.Gly948Ala) c.2728G>C c.*1014G>C (n.*1014G>C) c.2471G>C (p.Gly824Ala) c.*2870G>C (n.*2870G>C) c.2376G>C c.*1273G>C (n.*1273G>C) c.2783G>C c.2804G>C (p.Gly935Ala) c.*2267G>C (n.*2267G>C) c.*1390G>C (n.*1390G>C) c.1777G>C c.2681G>C (p.Gly894Ala) c.2792G>C (p.Gly931Ala) c.2846G>C (p.Gly949Ala) c.76G>C c.365G>C (p.Gly122Ala) c.2735G>C (p.Gly912Ala) n.582+1669C>G c.2420G>C (p.Gly807Ala) c.2417G>C (p.Gly806Ala) n.3208G>C n.3043G>C n.600+1669C>G n.475+3557C>G | |
| 3 | g.193667251G>T | CA355797719 | OPA1 | c.2954G>T (p.Gly985Val) c.2789G>T (p.Gly930Val) c.2900G>T (p.Gly967Val) c.2843G>T (p.Gly948Val) c.2728G>T c.*1014G>T (n.*1014G>T) c.2471G>T (p.Gly824Val) c.*2870G>T (n.*2870G>T) c.2376G>T c.*1273G>T (n.*1273G>T) c.2783G>T c.2804G>T (p.Gly935Val) c.*2267G>T (n.*2267G>T) c.*1390G>T (n.*1390G>T) c.1777G>T c.2681G>T (p.Gly894Val) c.2792G>T (p.Gly931Val) c.2846G>T (p.Gly949Val) c.76G>T c.365G>T (p.Gly122Val) c.2735G>T (p.Gly912Val) n.582+1669C>A c.2420G>T (p.Gly807Val) c.2417G>T (p.Gly806Val) n.3208G>T n.3043G>T n.600+1669C>A n.475+3557C>A | |
| 3 | g.193667252T>A | CA437441990 | OPA1 | c.2955T>A (p.Gly985=) c.2790T>A (p.Gly930=) c.2901T>A (p.Gly967=) c.2844T>A (p.Gly948=) c.2729T>A c.*1015T>A (n.*1015T>A) c.2472T>A (p.Gly824=) c.*2871T>A (n.*2871T>A) c.2377T>A c.*1274T>A (n.*1274T>A) c.2784T>A c.2805T>A (p.Gly935=) c.*2268T>A (n.*2268T>A) c.*1391T>A (n.*1391T>A) c.1778T>A c.2682T>A (p.Gly894=) c.2793T>A (p.Gly931=) c.2847T>A (p.Gly949=) c.77T>A c.366T>A (p.Gly122=) c.2736T>A (p.Gly912=) n.582+1668A>T c.2421T>A (p.Gly807=) c.2418T>A (p.Gly806=) n.3209T>A n.3044T>A n.600+1668A>T n.475+3556A>T | |
| 3 | g.193667252T>C | CA437441991 | OPA1 | c.2955T>C (p.Gly985=) c.2790T>C (p.Gly930=) c.2901T>C (p.Gly967=) c.2844T>C (p.Gly948=) c.2729T>C c.*1015T>C (n.*1015T>C) c.2472T>C (p.Gly824=) c.*2871T>C (n.*2871T>C) c.2377T>C c.*1274T>C (n.*1274T>C) c.2784T>C c.2805T>C (p.Gly935=) c.*2268T>C (n.*2268T>C) c.*1391T>C (n.*1391T>C) c.1778T>C c.2682T>C (p.Gly894=) c.2793T>C (p.Gly931=) c.2847T>C (p.Gly949=) c.77T>C c.366T>C (p.Gly122=) c.2736T>C (p.Gly912=) n.582+1668A>G c.2421T>C (p.Gly807=) c.2418T>C (p.Gly806=) n.3209T>C n.3044T>C n.600+1668A>G n.475+3556A>G | |
| 3 | g.193667252T>G | CA437441992 | OPA1 | c.2955T>G (p.Gly985=) c.2790T>G (p.Gly930=) c.2901T>G (p.Gly967=) c.2844T>G (p.Gly948=) c.2729T>G c.*1015T>G (n.*1015T>G) c.2472T>G (p.Gly824=) c.*2871T>G (n.*2871T>G) c.2377T>G c.*1274T>G (n.*1274T>G) c.2784T>G c.2805T>G (p.Gly935=) c.*2268T>G (n.*2268T>G) c.*1391T>G (n.*1391T>G) c.1778T>G c.2682T>G (p.Gly894=) c.2793T>G (p.Gly931=) c.2847T>G (p.Gly949=) c.77T>G c.366T>G (p.Gly122=) c.2736T>G (p.Gly912=) n.582+1668A>C c.2421T>G (p.Gly807=) c.2418T>G (p.Gly806=) n.3209T>G n.3044T>G n.600+1668A>C n.475+3556A>C | |
| 3 | g.193667252_193667260delinsAAAACACCG | CA2586973389 | OPA1 | c.2955_2963delinsAAAACACCG (p.Arg987_Val988delinsHisArg) c.2790_2798delinsAAAACACCG (p.Arg932_Val933delinsHisArg) c.2901_2909delinsAAAACACCG (p.Arg969_Val970delinsHisArg) c.2844_2852delinsAAAACACCG (p.Arg950_Val951delinsHisArg) c.2729_2737delinsAAAACACCG c.*1015_*1023delinsAAAACACCG (n.*1015_*1023delinsAAAACACCG) c.2472_2480delinsAAAACACCG (p.Arg826_Val827delinsHisArg) c.*2871_*2879delinsAAAACACCG (n.*2871_*2879delinsAAAACACCG) c.2377_2385delinsAAAACACCG c.*1274_*1282delinsAAAACACCG (n.*1274_*1282delinsAAAACACCG) c.2784_2792delinsAAAACACCG c.2805_2813delinsAAAACACCG (p.Arg937_Val938delinsHisArg) c.*2268_*2276delinsAAAACACCG (n.*2268_*2276delinsAAAACACCG) c.*1391_*1399delinsAAAACACCG (n.*1391_*1399delinsAAAACACCG) c.1778_1786delinsAAAACACCG c.2682_2690delinsAAAACACCG (p.Arg896_Val897delinsHisArg) c.2793_2801delinsAAAACACCG (p.Arg933_Val934delinsHisArg) c.2847_2855delinsAAAACACCG (p.Arg951_Val952delinsHisArg) c.77_85delinsAAAACACCG c.366_374delinsAAAACACCG (p.Arg124_Val125delinsHisArg) c.2736_2744delinsAAAACACCG (p.Arg914_Val915delinsHisArg) n.582+1660_582+1668delinsCGGTGTTTT c.2421_2429delinsAAAACACCG (p.Arg809_Val810delinsHisArg) c.2418_2426delinsAAAACACCG (p.Arg808_Val809delinsHisArg) n.3209_3217delinsAAAACACCG n.3044_3052delinsAAAACACCG n.600+1660_600+1668delinsCGGTGTTTT n.475+3548_475+3556delinsCGGTGTTTT | |
| 3 | g.193667253A>C | CA355797733 | OPA1 | c.2956A>C (p.Lys986Gln) c.2791A>C (p.Lys931Gln) c.2902A>C (p.Lys968Gln) c.2845A>C (p.Lys949Gln) c.2730A>C c.*1016A>C (n.*1016A>C) c.2473A>C (p.Lys825Gln) c.*2872A>C (n.*2872A>C) c.2378A>C c.*1275A>C (n.*1275A>C) c.2785A>C c.2806A>C (p.Lys936Gln) c.*2269A>C (n.*2269A>C) c.*1392A>C (n.*1392A>C) c.1779A>C c.2683A>C (p.Lys895Gln) c.2794A>C (p.Lys932Gln) c.2848A>C (p.Lys950Gln) c.78A>C c.367A>C (p.Lys123Gln) c.2737A>C (p.Lys913Gln) n.582+1667T>G c.2422A>C (p.Lys808Gln) c.2419A>C (p.Lys807Gln) n.3210A>C n.3045A>C n.600+1667T>G n.475+3555T>G | |
| 3 | g.193667253A>G | CA355797735 | OPA1 | c.2956A>G (p.Lys986Glu) c.2791A>G (p.Lys931Glu) c.2902A>G (p.Lys968Glu) c.2845A>G (p.Lys949Glu) c.2730A>G c.*1016A>G (n.*1016A>G) c.2473A>G (p.Lys825Glu) c.*2872A>G (n.*2872A>G) c.2378A>G c.*1275A>G (n.*1275A>G) c.2785A>G c.2806A>G (p.Lys936Glu) c.*2269A>G (n.*2269A>G) c.*1392A>G (n.*1392A>G) c.1779A>G c.2683A>G (p.Lys895Glu) c.2794A>G (p.Lys932Glu) c.2848A>G (p.Lys950Glu) c.78A>G c.367A>G (p.Lys123Glu) c.2737A>G (p.Lys913Glu) n.582+1667T>C c.2422A>G (p.Lys808Glu) c.2419A>G (p.Lys807Glu) n.3210A>G n.3045A>G n.600+1667T>C n.475+3555T>C | gnomAD v4 |
| 3 | g.193667253A>T | CA355797737 | OPA1 | c.2956A>T (p.Lys986Ter) c.2791A>T (p.Lys931Ter) c.2902A>T (p.Lys968Ter) c.2845A>T (p.Lys949Ter) c.2730A>T c.*1016A>T (n.*1016A>T) c.2473A>T (p.Lys825Ter) c.*2872A>T (n.*2872A>T) c.2378A>T c.*1275A>T (n.*1275A>T) c.2785A>T c.2806A>T (p.Lys936Ter) c.*2269A>T (n.*2269A>T) c.*1392A>T (n.*1392A>T) c.1779A>T c.2683A>T (p.Lys895Ter) c.2794A>T (p.Lys932Ter) c.2848A>T (p.Lys950Ter) c.78A>T c.367A>T (p.Lys123Ter) c.2737A>T (p.Lys913Ter) n.582+1667T>A c.2422A>T (p.Lys808Ter) c.2419A>T (p.Lys807Ter) n.3210A>T n.3045A>T n.600+1667T>A n.475+3555T>A | |
| 3 | g.193667254A>C | CA355797742 | OPA1 | c.2957A>C (p.Lys986Thr) c.2792A>C (p.Lys931Thr) c.2903A>C (p.Lys968Thr) c.2846A>C (p.Lys949Thr) c.2731A>C c.*1017A>C (n.*1017A>C) c.2474A>C (p.Lys825Thr) c.*2873A>C (n.*2873A>C) c.2379A>C c.*1276A>C (n.*1276A>C) c.2786A>C c.2807A>C (p.Lys936Thr) c.*2270A>C (n.*2270A>C) c.*1393A>C (n.*1393A>C) c.1780A>C c.2684A>C (p.Lys895Thr) c.2795A>C (p.Lys932Thr) c.2849A>C (p.Lys950Thr) c.79A>C c.368A>C (p.Lys123Thr) c.2738A>C (p.Lys913Thr) n.582+1666T>G c.2423A>C (p.Lys808Thr) c.2420A>C (p.Lys807Thr) n.3211A>C n.3046A>C n.600+1666T>G n.475+3554T>G | |
| 3 | g.193667254A>G | CA355797745 | OPA1 | c.2957A>G (p.Lys986Arg) c.2792A>G (p.Lys931Arg) c.2903A>G (p.Lys968Arg) c.2846A>G (p.Lys949Arg) c.2731A>G c.*1017A>G (n.*1017A>G) c.2474A>G (p.Lys825Arg) c.*2873A>G (n.*2873A>G) c.2379A>G c.*1276A>G (n.*1276A>G) c.2786A>G c.2807A>G (p.Lys936Arg) c.*2270A>G (n.*2270A>G) c.*1393A>G (n.*1393A>G) c.1780A>G c.2684A>G (p.Lys895Arg) c.2795A>G (p.Lys932Arg) c.2849A>G (p.Lys950Arg) c.79A>G c.368A>G (p.Lys123Arg) c.2738A>G (p.Lys913Arg) n.582+1666T>C c.2423A>G (p.Lys808Arg) c.2420A>G (p.Lys807Arg) n.3211A>G n.3046A>G n.600+1666T>C n.475+3554T>C | |
| 3 | g.193667254A>T | CA355797747 | OPA1 | c.2957A>T (p.Lys986Ile) c.2792A>T (p.Lys931Ile) c.2903A>T (p.Lys968Ile) c.2846A>T (p.Lys949Ile) c.2731A>T c.*1017A>T (n.*1017A>T) c.2474A>T (p.Lys825Ile) c.*2873A>T (n.*2873A>T) c.2379A>T c.*1276A>T (n.*1276A>T) c.2786A>T c.2807A>T (p.Lys936Ile) c.*2270A>T (n.*2270A>T) c.*1393A>T (n.*1393A>T) c.1780A>T c.2684A>T (p.Lys895Ile) c.2795A>T (p.Lys932Ile) c.2849A>T (p.Lys950Ile) c.79A>T c.368A>T (p.Lys123Ile) c.2738A>T (p.Lys913Ile) n.582+1666T>A c.2423A>T (p.Lys808Ile) c.2420A>T (p.Lys807Ile) n.3211A>T n.3046A>T n.600+1666T>A n.475+3554T>A | |
| 3 | g.193667257_193667265del | CA2586973390 | OPA1 | c.2960_2968del (p.Arg987_Gln989del) c.2795_2803del (p.Arg932_Gln934del) c.2906_2914del (p.Arg969_Gln971del) c.2849_2857del (p.Arg950_Gln952del) c.2734_2742del c.*1020_*1028del (n.*1020_*1028del) c.2477_2485del (p.Arg826_Gln828del) c.*2876_*2884del (n.*2876_*2884del) c.2382_2390del c.*1279_*1287del (n.*1279_*1287del) c.2789_2797del c.2810_2818del (p.Arg937_Gln939del) c.*2273_*2281del (n.*2273_*2281del) c.*1396_*1404del (n.*1396_*1404del) c.1783_1791del c.2687_2695del (p.Arg896_Gln898del) c.2798_2806del (p.Arg933_Gln935del) c.2852_2860del (p.Arg951_Gln953del) c.82_90del c.371_379del (p.Arg124_Gln126del) c.2741_2749del (p.Arg914_Gln916del) n.582+1658_582+1666del c.2426_2434del (p.Arg809_Gln811del) c.2423_2431del (p.Arg808_Gln810del) n.3214_3222del n.3049_3057del n.600+1658_600+1666del n.475+3546_475+3554del | |
| 3 | g.193667255A>C | CA355797753 | OPA1 | c.2958A>C (p.Lys986Asn) c.2793A>C (p.Lys931Asn) c.2904A>C (p.Lys968Asn) c.2847A>C (p.Lys949Asn) c.2732A>C c.*1018A>C (n.*1018A>C) c.2475A>C (p.Lys825Asn) c.*2874A>C (n.*2874A>C) c.2380A>C c.*1277A>C (n.*1277A>C) c.2787A>C c.2808A>C (p.Lys936Asn) c.*2271A>C (n.*2271A>C) c.*1394A>C (n.*1394A>C) c.1781A>C c.2685A>C (p.Lys895Asn) c.2796A>C (p.Lys932Asn) c.2850A>C (p.Lys950Asn) c.80A>C c.369A>C (p.Lys123Asn) c.2739A>C (p.Lys913Asn) n.582+1665T>G c.2424A>C (p.Lys808Asn) c.2421A>C (p.Lys807Asn) n.3212A>C n.3047A>C n.600+1665T>G n.475+3553T>G | |
| 3 | g.193667255A>G | CA437441993 | OPA1 | c.2958A>G (p.Lys986=) c.2793A>G (p.Lys931=) c.2904A>G (p.Lys968=) c.2847A>G (p.Lys949=) c.2732A>G c.*1018A>G (n.*1018A>G) c.2475A>G (p.Lys825=) c.*2874A>G (n.*2874A>G) c.2380A>G c.*1277A>G (n.*1277A>G) c.2787A>G c.2808A>G (p.Lys936=) c.*2271A>G (n.*2271A>G) c.*1394A>G (n.*1394A>G) c.1781A>G c.2685A>G (p.Lys895=) c.2796A>G (p.Lys932=) c.2850A>G (p.Lys950=) c.80A>G c.369A>G (p.Lys123=) c.2739A>G (p.Lys913=) n.582+1665T>C c.2424A>G (p.Lys808=) c.2421A>G (p.Lys807=) n.3212A>G n.3047A>G n.600+1665T>C n.475+3553T>C | |
| 3 | g.193667255A>T | CA355797757 | OPA1 | c.2958A>T (p.Lys986Asn) c.2793A>T (p.Lys931Asn) c.2904A>T (p.Lys968Asn) c.2847A>T (p.Lys949Asn) c.2732A>T c.*1018A>T (n.*1018A>T) c.2475A>T (p.Lys825Asn) c.*2874A>T (n.*2874A>T) c.2380A>T c.*1277A>T (n.*1277A>T) c.2787A>T c.2808A>T (p.Lys936Asn) c.*2271A>T (n.*2271A>T) c.*1394A>T (n.*1394A>T) c.1781A>T c.2685A>T (p.Lys895Asn) c.2796A>T (p.Lys932Asn) c.2850A>T (p.Lys950Asn) c.80A>T c.369A>T (p.Lys123Asn) c.2739A>T (p.Lys913Asn) n.582+1665T>A c.2424A>T (p.Lys808Asn) c.2421A>T (p.Lys807Asn) n.3212A>T n.3047A>T n.600+1665T>A n.475+3553T>A | |
| 3 | g.193667256C>A | CA355797761 | OPA1 | c.2959C>A (p.Arg987Ser) c.2794C>A (p.Arg932Ser) c.2905C>A (p.Arg969Ser) c.2848C>A (p.Arg950Ser) c.2733C>A c.*1019C>A (n.*1019C>A) c.2476C>A (p.Arg826Ser) c.*2875C>A (n.*2875C>A) c.2381C>A c.*1278C>A (n.*1278C>A) c.2788C>A c.2809C>A (p.Arg937Ser) c.*2272C>A (n.*2272C>A) c.*1395C>A (n.*1395C>A) c.1782C>A c.2686C>A (p.Arg896Ser) c.2797C>A (p.Arg933Ser) c.2851C>A (p.Arg951Ser) c.81C>A c.370C>A (p.Arg124Ser) c.2740C>A (p.Arg914Ser) n.582+1664G>T c.2425C>A (p.Arg809Ser) c.2422C>A (p.Arg808Ser) n.3213C>A n.3048C>A n.600+1664G>T n.475+3552G>T | gnomAD v4 |
| 3 | g.193667256C= | CA1430233650 | OPA1 | c.2959C= (p.Arg987=) c.2794C= (p.Arg932=) c.2905C= (p.Arg969=) c.2848C= (p.Arg950=) c.2733C= c.*1019C= (n.*1019C=) c.2476C= (p.Arg826=) c.*2875C= (n.*2875C=) c.2381C= c.*1278C= (n.*1278C=) c.2788C= c.2809C= (p.Arg937=) c.*2272C= (n.*2272C=) c.*1395C= (n.*1395C=) c.1782C= c.2686C= (p.Arg896=) c.2797C= (p.Arg933=) c.2851C= (p.Arg951=) c.81C= c.370C= (p.Arg124=) c.2740C= (p.Arg914=) n.582+1664G= c.2425C= (p.Arg809=) c.2422C= (p.Arg808=) n.3213C= n.3048C= n.600+1664G= n.475+3552G= | |
| 3 | g.193667256C>G | CA355797765 | OPA1 | c.2959C>G (p.Arg987Gly) c.2794C>G (p.Arg932Gly) c.2905C>G (p.Arg969Gly) c.2848C>G (p.Arg950Gly) c.2733C>G c.*1019C>G (n.*1019C>G) c.2476C>G (p.Arg826Gly) c.*2875C>G (n.*2875C>G) c.2381C>G c.*1278C>G (n.*1278C>G) c.2788C>G c.2809C>G (p.Arg937Gly) c.*2272C>G (n.*2272C>G) c.*1395C>G (n.*1395C>G) c.1782C>G c.2686C>G (p.Arg896Gly) c.2797C>G (p.Arg933Gly) c.2851C>G (p.Arg951Gly) c.81C>G c.370C>G (p.Arg124Gly) c.2740C>G (p.Arg914Gly) n.582+1664G>C c.2425C>G (p.Arg809Gly) c.2422C>G (p.Arg808Gly) n.3213C>G n.3048C>G n.600+1664G>C n.475+3552G>C | |
| 3 | g.193667256C>T | CA2759785 | OPA1 | c.2959C>T (p.Arg987Cys) c.2794C>T (p.Arg932Cys) c.2905C>T (p.Arg969Cys) c.2848C>T (p.Arg950Cys) c.2733C>T c.*1019C>T (n.*1019C>T) c.2476C>T (p.Arg826Cys) c.*2875C>T (n.*2875C>T) c.2381C>T c.*1278C>T (n.*1278C>T) c.2788C>T c.2809C>T (p.Arg937Cys) c.*2272C>T (n.*2272C>T) c.*1395C>T (n.*1395C>T) c.1782C>T c.2686C>T (p.Arg896Cys) c.2797C>T (p.Arg933Cys) c.2851C>T (p.Arg951Cys) c.81C>T c.370C>T (p.Arg124Cys) c.2740C>T (p.Arg914Cys) n.582+1664G>A c.2425C>T (p.Arg809Cys) c.2422C>T (p.Arg808Cys) n.3213C>T n.3048C>T n.600+1664G>A n.475+3552G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193667257G>A | CA355797783 | OPA1 | c.2960G>A (p.Arg987His) c.2795G>A (p.Arg932His) c.2906G>A (p.Arg969His) c.2849G>A (p.Arg950His) c.2734G>A c.*1020G>A (n.*1020G>A) c.2477G>A (p.Arg826His) c.*2876G>A (n.*2876G>A) c.2382G>A c.*1279G>A (n.*1279G>A) c.2789G>A c.2810G>A (p.Arg937His) c.*2273G>A (n.*2273G>A) c.*1396G>A (n.*1396G>A) c.1783G>A c.2687G>A (p.Arg896His) c.2798G>A (p.Arg933His) c.2852G>A (p.Arg951His) c.82G>A c.371G>A (p.Arg124His) c.2741G>A (p.Arg914His) n.582+1663C>T c.2426G>A (p.Arg809His) c.2423G>A (p.Arg808His) n.3214G>A n.3049G>A n.600+1663C>T n.475+3551C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193667257G>C | CA355797780 | OPA1 | c.2960G>C (p.Arg987Pro) c.2795G>C (p.Arg932Pro) c.2906G>C (p.Arg969Pro) c.2849G>C (p.Arg950Pro) c.2734G>C c.*1020G>C (n.*1020G>C) c.2477G>C (p.Arg826Pro) c.*2876G>C (n.*2876G>C) c.2382G>C c.*1279G>C (n.*1279G>C) c.2789G>C c.2810G>C (p.Arg937Pro) c.*2273G>C (n.*2273G>C) c.*1396G>C (n.*1396G>C) c.1783G>C c.2687G>C (p.Arg896Pro) c.2798G>C (p.Arg933Pro) c.2852G>C (p.Arg951Pro) c.82G>C c.371G>C (p.Arg124Pro) c.2741G>C (p.Arg914Pro) n.582+1663C>G c.2426G>C (p.Arg809Pro) c.2423G>C (p.Arg808Pro) n.3214G>C n.3049G>C n.600+1663C>G n.475+3551C>G | |
| 3 | g.193667257G= | CA1430233659 | OPA1 | c.2960G= (p.Arg987=) c.2795G= (p.Arg932=) c.2906G= (p.Arg969=) c.2849G= (p.Arg950=) c.2734G= c.*1020G= (n.*1020G=) c.2477G= (p.Arg826=) c.*2876G= (n.*2876G=) c.2382G= c.*1279G= (n.*1279G=) c.2789G= c.2810G= (p.Arg937=) c.*2273G= (n.*2273G=) c.*1396G= (n.*1396G=) c.1783G= c.2687G= (p.Arg896=) c.2798G= (p.Arg933=) c.2852G= (p.Arg951=) c.82G= c.371G= (p.Arg124=) c.2741G= (p.Arg914=) n.582+1663C= c.2426G= (p.Arg809=) c.2423G= (p.Arg808=) n.3214G= n.3049G= n.600+1663C= n.475+3551C= | |
| 3 | g.193667257G>T | CA355797775 | OPA1 | c.2960G>T (p.Arg987Leu) c.2795G>T (p.Arg932Leu) c.2906G>T (p.Arg969Leu) c.2849G>T (p.Arg950Leu) c.2734G>T c.*1020G>T (n.*1020G>T) c.2477G>T (p.Arg826Leu) c.*2876G>T (n.*2876G>T) c.2382G>T c.*1279G>T (n.*1279G>T) c.2789G>T c.2810G>T (p.Arg937Leu) c.*2273G>T (n.*2273G>T) c.*1396G>T (n.*1396G>T) c.1783G>T c.2687G>T (p.Arg896Leu) c.2798G>T (p.Arg933Leu) c.2852G>T (p.Arg951Leu) c.82G>T c.371G>T (p.Arg124Leu) c.2741G>T (p.Arg914Leu) n.582+1663C>A c.2426G>T (p.Arg809Leu) c.2423G>T (p.Arg808Leu) n.3214G>T n.3049G>T n.600+1663C>A n.475+3551C>A | |
| 3 | g.193667257_193667263delinsTC | CA2586973391 | OPA1 | c.2960_2966delinsTC (p.Arg987LeufsTer10) c.2795_2801delinsTC (p.Arg932LeufsTer10) c.2906_2912delinsTC (p.Arg969LeufsTer10) c.2795_2801delinsTC (p.Arg932LeufsTer31) c.2849_2855delinsTC (p.Arg950LeufsTer10) c.2734_2740delinsTC c.*1020_*1026delinsTC (n.*1020_*1026delinsTC) c.2477_2483delinsTC (p.Arg826LeufsTer10) c.*2876_*2882delinsTC (n.*2876_*2882delinsTC) c.2795_2801delinsTC (p.Arg932LeufsTer15) c.2382_2388delinsTC c.*1279_*1285delinsTC (n.*1279_*1285delinsTC) c.2789_2795delinsTC c.2810_2816delinsTC (p.Arg937LeufsTer10) c.*2273_*2279delinsTC (n.*2273_*2279delinsTC) c.*1396_*1402delinsTC (n.*1396_*1402delinsTC) c.1783_1789delinsTC c.2687_2693delinsTC (p.Arg896LeufsTer10) c.2798_2804delinsTC (p.Arg933LeufsTer10) c.2852_2858delinsTC (p.Arg951LeufsTer10) c.82_88delinsTC c.371_377delinsTC (p.Arg124LeufsTer22) c.2741_2747delinsTC (p.Arg914LeufsTer10) c.2960_2966delinsTC (p.Arg987LeufsTer14) c.2906_2912delinsTC (p.Arg969LeufsTer14) c.2849_2855delinsTC (p.Arg950LeufsTer14) c.2798_2804delinsTC (p.Arg933LeufsTer14) c.2795_2801delinsTC (p.Arg932LeufsTer14) c.2687_2693delinsTC (p.Arg896LeufsTer14) n.582+1657_582+1663delinsGA c.2426_2432delinsTC (p.Arg809LeufsTer10) c.2423_2429delinsTC (p.Arg808LeufsTer10) n.3214_3220delinsTC n.3049_3055delinsTC n.600+1657_600+1663delinsGA n.475+3545_475+3551delinsGA | |
| 3 | g.193667258C>A | CA437441995 | OPA1 | c.2961C>A (p.Arg987=) c.2796C>A (p.Arg932=) c.2907C>A (p.Arg969=) c.2850C>A (p.Arg950=) c.2735C>A c.*1021C>A (n.*1021C>A) c.2478C>A (p.Arg826=) c.*2877C>A (n.*2877C>A) c.2383C>A c.*1280C>A (n.*1280C>A) c.2790C>A c.2811C>A (p.Arg937=) c.*2274C>A (n.*2274C>A) c.*1397C>A (n.*1397C>A) c.1784C>A c.2688C>A (p.Arg896=) c.2799C>A (p.Arg933=) c.2853C>A (p.Arg951=) c.83C>A c.372C>A (p.Arg124=) c.2742C>A (p.Arg914=) n.582+1662G>T c.2427C>A (p.Arg809=) c.2424C>A (p.Arg808=) n.3215C>A n.3050C>A n.600+1662G>T n.475+3550G>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.193667258C= | CA1430233665 | OPA1 | c.2961C= (p.Arg987=) c.2796C= (p.Arg932=) c.2907C= (p.Arg969=) c.2850C= (p.Arg950=) c.2735C= c.*1021C= (n.*1021C=) c.2478C= (p.Arg826=) c.*2877C= (n.*2877C=) c.2383C= c.*1280C= (n.*1280C=) c.2790C= c.2811C= (p.Arg937=) c.*2274C= (n.*2274C=) c.*1397C= (n.*1397C=) c.1784C= c.2688C= (p.Arg896=) c.2799C= (p.Arg933=) c.2853C= (p.Arg951=) c.83C= c.372C= (p.Arg124=) c.2742C= (p.Arg914=) n.582+1662G= c.2427C= (p.Arg809=) c.2424C= (p.Arg808=) n.3215C= n.3050C= n.600+1662G= n.475+3550G= | |
| 3 | g.193667258C>G | CA437441994 | OPA1 | c.2961C>G (p.Arg987=) c.2796C>G (p.Arg932=) c.2907C>G (p.Arg969=) c.2850C>G (p.Arg950=) c.2735C>G c.*1021C>G (n.*1021C>G) c.2478C>G (p.Arg826=) c.*2877C>G (n.*2877C>G) c.2383C>G c.*1280C>G (n.*1280C>G) c.2790C>G c.2811C>G (p.Arg937=) c.*2274C>G (n.*2274C>G) c.*1397C>G (n.*1397C>G) c.1784C>G c.2688C>G (p.Arg896=) c.2799C>G (p.Arg933=) c.2853C>G (p.Arg951=) c.83C>G c.372C>G (p.Arg124=) c.2742C>G (p.Arg914=) n.582+1662G>C c.2427C>G (p.Arg809=) c.2424C>G (p.Arg808=) n.3215C>G n.3050C>G n.600+1662G>C n.475+3550G>C | |
| 3 | g.193667258C>T | CA285718 | OPA1 | c.2961C>T (p.Arg987=) c.2796C>T (p.Arg932=) c.2907C>T (p.Arg969=) c.2850C>T (p.Arg950=) c.2735C>T c.*1021C>T (n.*1021C>T) c.2478C>T (p.Arg826=) c.*2877C>T (n.*2877C>T) c.2383C>T c.*1280C>T (n.*1280C>T) c.2790C>T c.2811C>T (p.Arg937=) c.*2274C>T (n.*2274C>T) c.*1397C>T (n.*1397C>T) c.1784C>T c.2688C>T (p.Arg896=) c.2799C>T (p.Arg933=) c.2853C>T (p.Arg951=) c.83C>T c.372C>T (p.Arg124=) c.2742C>T (p.Arg914=) n.582+1662G>A c.2427C>T (p.Arg809=) c.2424C>T (p.Arg808=) n.3215C>T n.3050C>T n.600+1662G>A n.475+3550G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193667258_193667263delinsCGTTCA | CA1430233664 | OPA1 | c.2961_2966delinsCGTTCA (p.Arg987=) c.2796_2801delinsCGTTCA (p.Arg932=) c.2907_2912delinsCGTTCA (p.Arg969=) c.2850_2855delinsCGTTCA (p.Arg950=) c.2735_2740delinsCGTTCA c.*1021_*1026delinsCGTTCA (n.*1021_*1026delinsCGTTCA) c.2478_2483delinsCGTTCA (p.Arg826=) c.*2877_*2882delinsCGTTCA (n.*2877_*2882delinsCGTTCA) c.2383_2388delinsCGTTCA c.*1280_*1285delinsCGTTCA (n.*1280_*1285delinsCGTTCA) c.2790_2795delinsCGTTCA c.2811_2816delinsCGTTCA (p.Arg937=) c.*2274_*2279delinsCGTTCA (n.*2274_*2279delinsCGTTCA) c.*1397_*1402delinsCGTTCA (n.*1397_*1402delinsCGTTCA) c.1784_1789delinsCGTTCA c.2688_2693delinsCGTTCA (p.Arg896=) c.2799_2804delinsCGTTCA (p.Arg933=) c.2853_2858delinsCGTTCA (p.Arg951=) c.83_88delinsCGTTCA c.372_377delinsCGTTCA (p.Arg124=) c.2742_2747delinsCGTTCA (p.Arg914=) n.582+1657_582+1662delinsTGAACG c.2427_2432delinsCGTTCA (p.Arg809=) c.2424_2429delinsCGTTCA (p.Arg808=) n.3215_3220delinsCGTTCA n.3050_3055delinsCGTTCA n.600+1657_600+1662delinsTGAACG n.475+3545_475+3550delinsTGAACG | |
| 3 | g.193667259G>A | CA2759786 | OPA1 | c.2962G>A (p.Val988Ile) c.2797G>A (p.Val933Ile) c.2908G>A (p.Val970Ile) c.2851G>A (p.Val951Ile) c.2736G>A c.*1022G>A (n.*1022G>A) c.2479G>A (p.Val827Ile) c.*2878G>A (n.*2878G>A) c.2384G>A c.*1281G>A (n.*1281G>A) c.2791G>A c.2812G>A (p.Val938Ile) c.*2275G>A (n.*2275G>A) c.*1398G>A (n.*1398G>A) c.1785G>A c.2689G>A (p.Val897Ile) c.2800G>A (p.Val934Ile) c.2854G>A (p.Val952Ile) c.84G>A c.373G>A (p.Val125Ile) c.2743G>A (p.Val915Ile) n.582+1661C>T c.2428G>A (p.Val810Ile) c.2425G>A (p.Val809Ile) n.3216G>A n.3051G>A n.600+1661C>T n.475+3549C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.193667259G>C | CA355797789 | OPA1 | c.2962G>C (p.Val988Leu) c.2797G>C (p.Val933Leu) c.2908G>C (p.Val970Leu) c.2851G>C (p.Val951Leu) c.2736G>C c.*1022G>C (n.*1022G>C) c.2479G>C (p.Val827Leu) c.*2878G>C (n.*2878G>C) c.2384G>C c.*1281G>C (n.*1281G>C) c.2791G>C c.2812G>C (p.Val938Leu) c.*2275G>C (n.*2275G>C) c.*1398G>C (n.*1398G>C) c.1785G>C c.2689G>C (p.Val897Leu) c.2800G>C (p.Val934Leu) c.2854G>C (p.Val952Leu) c.84G>C c.373G>C (p.Val125Leu) c.2743G>C (p.Val915Leu) n.582+1661C>G c.2428G>C (p.Val810Leu) c.2425G>C (p.Val809Leu) n.3216G>C n.3051G>C n.600+1661C>G n.475+3549C>G | |
| 3 | g.193667259G= | CA1430233681 | OPA1 | c.2962G= (p.Val988=) c.2797G= (p.Val933=) c.2908G= (p.Val970=) c.2851G= (p.Val951=) c.2736G= c.*1022G= (n.*1022G=) c.2479G= (p.Val827=) c.*2878G= (n.*2878G=) c.2384G= c.*1281G= (n.*1281G=) c.2791G= c.2812G= (p.Val938=) c.*2275G= (n.*2275G=) c.*1398G= (n.*1398G=) c.1785G= c.2689G= (p.Val897=) c.2800G= (p.Val934=) c.2854G= (p.Val952=) c.84G= c.373G= (p.Val125=) c.2743G= (p.Val915=) n.582+1661C= c.2428G= (p.Val810=) c.2425G= (p.Val809=) n.3216G= n.3051G= n.600+1661C= n.475+3549C= | |
| 3 | g.193667259G>T | CA355797792 | OPA1 | c.2962G>T (p.Val988Phe) c.2797G>T (p.Val933Phe) c.2908G>T (p.Val970Phe) c.2851G>T (p.Val951Phe) c.2736G>T c.*1022G>T (n.*1022G>T) c.2479G>T (p.Val827Phe) c.*2878G>T (n.*2878G>T) c.2384G>T c.*1281G>T (n.*1281G>T) c.2791G>T c.2812G>T (p.Val938Phe) c.*2275G>T (n.*2275G>T) c.*1398G>T (n.*1398G>T) c.1785G>T c.2689G>T (p.Val897Phe) c.2800G>T (p.Val934Phe) c.2854G>T (p.Val952Phe) c.84G>T c.373G>T (p.Val125Phe) c.2743G>T (p.Val915Phe) n.582+1661C>A c.2428G>T (p.Val810Phe) c.2425G>T (p.Val809Phe) n.3216G>T n.3051G>T n.600+1661C>A n.475+3549C>A | |
| 3 | g.193667259_193667263del | CA1139655819 | OPA1 | c.2962_2966del (p.Val988ThrfsTer9) c.2797_2801del (p.Val933ThrfsTer9) c.2908_2912del (p.Val970ThrfsTer9) c.2797_2801del (p.Val933ThrfsTer30) c.2851_2855del (p.Val951ThrfsTer9) c.2736_2740del c.*1022_*1026del (n.*1022_*1026del) c.2479_2483del (p.Val827ThrfsTer9) c.*2878_*2882del (n.*2878_*2882del) c.2797_2801del (p.Val933ThrfsTer14) c.2384_2388del c.*1281_*1285del (n.*1281_*1285del) c.2791_2795del c.2812_2816del (p.Val938ThrfsTer9) c.*2275_*2279del (n.*2275_*2279del) c.*1398_*1402del (n.*1398_*1402del) c.1785_1789del c.2689_2693del (p.Val897ThrfsTer9) c.2800_2804del (p.Val934ThrfsTer9) c.2854_2858del (p.Val952ThrfsTer9) c.84_88del c.373_377del (p.Val125ThrfsTer21) c.2743_2747del (p.Val915ThrfsTer9) c.2962_2966del (p.Val988ThrfsTer13) c.2908_2912del (p.Val970ThrfsTer13) c.2851_2855del (p.Val951ThrfsTer13) c.2800_2804del (p.Val934ThrfsTer13) c.2797_2801del (p.Val933ThrfsTer13) c.2689_2693del (p.Val897ThrfsTer13) n.582+1657_582+1661del c.2428_2432del (p.Val810ThrfsTer9) c.2425_2429del (p.Val809ThrfsTer9) n.3216_3220del n.3051_3055del n.600+1657_600+1661del n.475+3545_475+3549del | ClinVar dbSNP |