Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.193618890_193618891dup | CA2586973322 | OPA1,OPA1-AS1 | c.632_633dup (p.Arg212LeufsTer?) c.578_579dup (p.Arg194LeufsTer?) c.418_419dup c.673_674dup c.260_261dup (p.Arg88LeufsTer?) c.*659_*660dup (n.*659_*660dup) c.238_239dup c.206_207dup (p.Arg70LeufsTer?) c.547_548dup c.470_471dup (p.Arg158LeufsTer?) c.524_525dup (p.Arg176LeufsTer?) c.331_332dup n.481_482dup n.64_65dup n.211_212dup c.98_99dup (p.Arg34LeufsTer?) n.861_862dup n.807_808dup | |
3 | g.193618890T>A | CA2759087 | OPA1,OPA1-AS1 | c.632T>A (p.Phe211Tyr) c.578T>A (p.Phe193Tyr) c.418T>A c.673T>A c.260T>A (p.Phe87Tyr) c.*659T>A (n.*659T>A) c.238T>A c.206T>A (p.Phe69Tyr) c.547T>A c.470T>A (p.Phe157Tyr) c.524T>A (p.Phe175Tyr) c.331T>A n.481T>A n.64T>A n.211A>T c.98T>A (p.Phe33Tyr) n.861T>A n.807T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.193618890T>C | CA355788209 | OPA1,OPA1-AS1 | c.632T>C (p.Phe211Ser) c.578T>C (p.Phe193Ser) c.418T>C c.673T>C c.260T>C (p.Phe87Ser) c.*659T>C (n.*659T>C) c.238T>C c.206T>C (p.Phe69Ser) c.547T>C c.470T>C (p.Phe157Ser) c.524T>C (p.Phe175Ser) c.331T>C n.481T>C n.64T>C n.211A>G c.98T>C (p.Phe33Ser) n.861T>C n.807T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.193618890T>G | CA355788207 | OPA1,OPA1-AS1 | c.632T>G (p.Phe211Cys) c.578T>G (p.Phe193Cys) c.418T>G c.673T>G c.260T>G (p.Phe87Cys) c.*659T>G (n.*659T>G) c.238T>G c.206T>G (p.Phe69Cys) c.547T>G c.470T>G (p.Phe157Cys) c.524T>G (p.Phe175Cys) c.331T>G n.481T>G n.64T>G n.211A>C c.98T>G (p.Phe33Cys) n.861T>G n.807T>G | |
3 | g.193618890T= | CA1430262117 | OPA1,OPA1-AS1 | c.632T= (p.Phe211=) c.578T= (p.Phe193=) c.418T= c.673T= c.260T= (p.Phe87=) c.*659T= (n.*659T=) c.238T= c.206T= (p.Phe69=) c.547T= c.470T= (p.Phe157=) c.524T= (p.Phe175=) c.331T= n.481T= n.64T= n.211A= c.98T= (p.Phe33=) n.861T= n.807T= | |
3 | g.193618891T>A | CA355788211 | OPA1,OPA1-AS1 | c.633T>A (p.Phe211Leu) c.579T>A (p.Phe193Leu) c.419T>A c.674T>A c.261T>A (p.Phe87Leu) c.*660T>A (n.*660T>A) c.239T>A c.207T>A (p.Phe69Leu) c.548T>A c.471T>A (p.Phe157Leu) c.525T>A (p.Phe175Leu) c.332T>A n.482T>A n.65T>A n.210A>T c.99T>A (p.Phe33Leu) n.862T>A n.808T>A | |
3 | g.193618891T>C | CA437432407 | OPA1,OPA1-AS1 | c.633T>C (p.Phe211=) c.579T>C (p.Phe193=) c.419T>C c.674T>C c.261T>C (p.Phe87=) c.*660T>C (n.*660T>C) c.239T>C c.207T>C (p.Phe69=) c.548T>C c.471T>C (p.Phe157=) c.525T>C (p.Phe175=) c.332T>C n.482T>C n.65T>C n.210A>G c.99T>C (p.Phe33=) n.862T>C n.808T>C | |
3 | g.193618891T>G | CA355788212 | OPA1,OPA1-AS1 | c.633T>G (p.Phe211Leu) c.579T>G (p.Phe193Leu) c.419T>G c.674T>G c.261T>G (p.Phe87Leu) c.*660T>G (n.*660T>G) c.239T>G c.207T>G (p.Phe69Leu) c.548T>G c.471T>G (p.Phe157Leu) c.525T>G (p.Phe175Leu) c.332T>G n.482T>G n.65T>G n.210A>C c.99T>G (p.Phe33Leu) n.862T>G n.808T>G | |
3 | g.193618892A= | CA1430262118 | OPA1,OPA1-AS1 | c.634A= (p.Arg212=) c.580A= (p.Arg194=) c.420A= c.675A= c.262A= (p.Arg88=) c.*661A= (n.*661A=) c.240A= c.208A= (p.Arg70=) c.549A= c.472A= (p.Arg158=) c.526A= (p.Arg176=) c.333A= n.483A= n.66A= n.209T= c.100A= (p.Arg34=) n.863A= n.809A= | |
3 | g.193618892A>C | CA437432408 | OPA1,OPA1-AS1 | c.634A>C (p.Arg212=) c.580A>C (p.Arg194=) c.420A>C c.675A>C c.262A>C (p.Arg88=) c.*661A>C (n.*661A>C) c.240A>C c.208A>C (p.Arg70=) c.549A>C c.472A>C (p.Arg158=) c.526A>C (p.Arg176=) c.333A>C n.483A>C n.66A>C n.209T>G c.100A>C (p.Arg34=) n.863A>C n.809A>C | |
3 | g.193618892A>G | CA355788213 | OPA1,OPA1-AS1 | c.634A>G (p.Arg212Gly) c.580A>G (p.Arg194Gly) c.420A>G c.675A>G c.262A>G (p.Arg88Gly) c.*661A>G (n.*661A>G) c.240A>G c.208A>G (p.Arg70Gly) c.549A>G c.472A>G (p.Arg158Gly) c.526A>G (p.Arg176Gly) c.333A>G n.483A>G n.66A>G n.209T>C c.100A>G (p.Arg34Gly) n.863A>G n.809A>G | ClinVar dbSNP gnomAD v4 |
3 | g.193618892A>T | CA355788214 | OPA1,OPA1-AS1 | c.634A>T (p.Arg212Ter) c.580A>T (p.Arg194Ter) c.420A>T c.675A>T c.262A>T (p.Arg88Ter) c.*661A>T (n.*661A>T) c.240A>T c.208A>T (p.Arg70Ter) c.549A>T c.472A>T (p.Arg158Ter) c.526A>T (p.Arg176Ter) c.333A>T n.483A>T n.66A>T n.209T>A c.100A>T (p.Arg34Ter) n.863A>T n.809A>T | |
3 | g.193618893G>A | CA2759088 | OPA1,OPA1-AS1 | c.635G>A (p.Arg212Lys) c.581G>A (p.Arg194Lys) c.421G>A c.676G>A c.263G>A (p.Arg88Lys) c.*662G>A (n.*662G>A) c.241G>A c.209G>A (p.Arg70Lys) c.550G>A c.473G>A (p.Arg158Lys) c.527G>A (p.Arg176Lys) c.334G>A n.484G>A n.67G>A n.208C>T c.101G>A (p.Arg34Lys) n.864G>A n.810G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.193618893G>C | CA355788215 | OPA1,OPA1-AS1 | c.635G>C (p.Arg212Thr) c.581G>C (p.Arg194Thr) c.421G>C c.676G>C c.263G>C (p.Arg88Thr) c.*662G>C (n.*662G>C) c.241G>C c.209G>C (p.Arg70Thr) c.550G>C c.473G>C (p.Arg158Thr) c.527G>C (p.Arg176Thr) c.334G>C n.484G>C n.67G>C n.208C>G c.101G>C (p.Arg34Thr) n.864G>C n.810G>C | |
3 | g.193618893G= | CA1430262119 | OPA1,OPA1-AS1 | c.635G= (p.Arg212=) c.581G= (p.Arg194=) c.421G= c.676G= c.263G= (p.Arg88=) c.*662G= (n.*662G=) c.241G= c.209G= (p.Arg70=) c.550G= c.473G= (p.Arg158=) c.527G= (p.Arg176=) c.334G= n.484G= n.67G= n.208C= c.101G= (p.Arg34=) n.864G= n.810G= | |
3 | g.193618893G>T | CA355788217 | OPA1,OPA1-AS1 | c.635G>T (p.Arg212Ile) c.581G>T (p.Arg194Ile) c.421G>T c.676G>T c.263G>T (p.Arg88Ile) c.*662G>T (n.*662G>T) c.241G>T c.209G>T (p.Arg70Ile) c.550G>T c.473G>T (p.Arg158Ile) c.527G>T (p.Arg176Ile) c.334G>T n.484G>T n.67G>T n.208C>A c.101G>T (p.Arg34Ile) n.864G>T n.810G>T | |
3 | g.193618894A>C | CA355788218 | OPA1,OPA1-AS1 | c.636A>C (p.Arg212Ser) c.582A>C (p.Arg194Ser) c.422A>C c.677A>C c.264A>C (p.Arg88Ser) c.*663A>C (n.*663A>C) c.242A>C c.210A>C (p.Arg70Ser) c.551A>C c.474A>C (p.Arg158Ser) c.528A>C (p.Arg176Ser) c.335A>C n.485A>C n.68A>C n.207T>G c.102A>C (p.Arg34Ser) n.865A>C n.811A>C | ClinVar |
3 | g.193618894A>G | CA437432409 | OPA1,OPA1-AS1 | c.636A>G (p.Arg212=) c.582A>G (p.Arg194=) c.422A>G c.677A>G c.264A>G (p.Arg88=) c.*663A>G (n.*663A>G) c.242A>G c.210A>G (p.Arg70=) c.551A>G c.474A>G (p.Arg158=) c.528A>G (p.Arg176=) c.335A>G n.485A>G n.68A>G n.207T>C c.102A>G (p.Arg34=) n.865A>G n.811A>G | |
3 | g.193618894A>T | CA355788220 | OPA1,OPA1-AS1 | c.636A>T (p.Arg212Ser) c.582A>T (p.Arg194Ser) c.422A>T c.677A>T c.264A>T (p.Arg88Ser) c.*663A>T (n.*663A>T) c.242A>T c.210A>T (p.Arg70Ser) c.551A>T c.474A>T (p.Arg158Ser) c.528A>T (p.Arg176Ser) c.335A>T n.485A>T n.68A>T n.207T>A c.102A>T (p.Arg34Ser) n.865A>T n.811A>T | |
3 | g.193618895G>A | CA355788221 | OPA1,OPA1-AS1 | c.637G>A (p.Ala213Thr) c.583G>A (p.Ala195Thr) c.423G>A c.678G>A c.265G>A (p.Ala89Thr) c.*664G>A (n.*664G>A) c.243G>A c.211G>A (p.Ala71Thr) c.552G>A c.475G>A (p.Ala159Thr) c.529G>A (p.Ala177Thr) c.336G>A n.486G>A n.69G>A n.206C>T c.103G>A (p.Ala35Thr) n.866G>A n.812G>A | dbSNP |
3 | g.193618895G>C | CA355788222 | OPA1,OPA1-AS1 | c.637G>C (p.Ala213Pro) c.583G>C (p.Ala195Pro) c.423G>C c.678G>C c.265G>C (p.Ala89Pro) c.*664G>C (n.*664G>C) c.243G>C c.211G>C (p.Ala71Pro) c.552G>C c.475G>C (p.Ala159Pro) c.529G>C (p.Ala177Pro) c.336G>C n.486G>C n.69G>C n.206C>G c.103G>C (p.Ala35Pro) n.866G>C n.812G>C | |
3 | g.193618895G= | CA1430262120 | OPA1,OPA1-AS1 | c.637G= (p.Ala213=) c.583G= (p.Ala195=) c.423G= c.678G= c.265G= (p.Ala89=) c.*664G= (n.*664G=) c.243G= c.211G= (p.Ala71=) c.552G= c.475G= (p.Ala159=) c.529G= (p.Ala177=) c.336G= n.486G= n.69G= n.206C= c.103G= (p.Ala35=) n.866G= n.812G= | |
3 | g.193618895G>T | CA355788223 | OPA1,OPA1-AS1 | c.637G>T (p.Ala213Ser) c.583G>T (p.Ala195Ser) c.423G>T c.678G>T c.265G>T (p.Ala89Ser) c.*664G>T (n.*664G>T) c.243G>T c.211G>T (p.Ala71Ser) c.552G>T c.475G>T (p.Ala159Ser) c.529G>T (p.Ala177Ser) c.336G>T n.486G>T n.69G>T n.206C>A c.103G>T (p.Ala35Ser) n.866G>T n.812G>T | |
3 | g.193618896C>A | CA355788224 | OPA1,OPA1-AS1 | c.638C>A (p.Ala213Glu) c.584C>A (p.Ala195Glu) c.424C>A c.679C>A c.266C>A (p.Ala89Glu) c.*665C>A (n.*665C>A) c.244C>A c.212C>A (p.Ala71Glu) c.553C>A c.476C>A (p.Ala159Glu) c.530C>A (p.Ala177Glu) c.337C>A n.487C>A n.70C>A n.205G>T c.104C>A (p.Ala35Glu) n.867C>A n.813C>A | |
3 | g.193618896C>G | CA355788227 | OPA1,OPA1-AS1 | c.638C>G (p.Ala213Gly) c.584C>G (p.Ala195Gly) c.424C>G c.679C>G c.266C>G (p.Ala89Gly) c.*665C>G (n.*665C>G) c.244C>G c.212C>G (p.Ala71Gly) c.553C>G c.476C>G (p.Ala159Gly) c.530C>G (p.Ala177Gly) c.337C>G n.487C>G n.70C>G n.205G>C c.104C>G (p.Ala35Gly) n.867C>G n.813C>G | |
3 | g.193618896C>T | CA355788229 | OPA1,OPA1-AS1 | c.638C>T (p.Ala213Val) c.584C>T (p.Ala195Val) c.424C>T c.679C>T c.266C>T (p.Ala89Val) c.*665C>T (n.*665C>T) c.244C>T c.212C>T (p.Ala71Val) c.553C>T c.476C>T (p.Ala159Val) c.530C>T (p.Ala177Val) c.337C>T n.487C>T n.70C>T n.205G>A c.104C>T (p.Ala35Val) n.867C>T n.813C>T | |
3 | g.193618897A>C | CA437432412 | OPA1,OPA1-AS1 | c.639A>C (p.Ala213=) c.585A>C (p.Ala195=) c.425A>C c.680A>C c.267A>C (p.Ala89=) c.*666A>C (n.*666A>C) c.245A>C c.213A>C (p.Ala71=) c.554A>C c.477A>C (p.Ala159=) c.531A>C (p.Ala177=) c.338A>C n.488A>C n.71A>C n.204T>G c.105A>C (p.Ala35=) n.868A>C n.814A>C | |
3 | g.193618897A>G | CA437432410 | OPA1,OPA1-AS1 | c.639A>G (p.Ala213=) c.585A>G (p.Ala195=) c.425A>G c.680A>G c.267A>G (p.Ala89=) c.*666A>G (n.*666A>G) c.245A>G c.213A>G (p.Ala71=) c.554A>G c.477A>G (p.Ala159=) c.531A>G (p.Ala177=) c.338A>G n.488A>G n.71A>G n.204T>C c.105A>G (p.Ala35=) n.868A>G n.814A>G | |
3 | g.193618897A>T | CA437432411 | OPA1,OPA1-AS1 | c.639A>T (p.Ala213=) c.585A>T (p.Ala195=) c.425A>T c.680A>T c.267A>T (p.Ala89=) c.*666A>T (n.*666A>T) c.245A>T c.213A>T (p.Ala71=) c.554A>T c.477A>T (p.Ala159=) c.531A>T (p.Ala177=) c.338A>T n.488A>T n.71A>T n.204T>A c.105A>T (p.Ala35=) n.868A>T n.814A>T | |
3 | g.193618898dup | CA2586973323 | OPA1,OPA1-AS1 | c.640dup (p.Thr214AsnfsTer6) c.586dup (p.Thr196AsnfsTer6) c.426dup c.681dup c.268dup (p.Thr90AsnfsTer6) c.*667dup (n.*667dup) c.246dup c.214dup (p.Thr72AsnfsTer6) c.555dup c.478dup (p.Thr160AsnfsTer6) c.532dup (p.Thr178AsnfsTer6) c.339dup n.489dup n.72dup n.204dup c.106dup (p.Thr36AsnfsTer6) n.869dup n.815dup | |
3 | g.193618898A>C | CA355788234 | OPA1,OPA1-AS1 | c.640A>C (p.Thr214Pro) c.586A>C (p.Thr196Pro) c.426A>C c.681A>C c.268A>C (p.Thr90Pro) c.*667A>C (n.*667A>C) c.246A>C c.214A>C (p.Thr72Pro) c.555A>C c.478A>C (p.Thr160Pro) c.532A>C (p.Thr178Pro) c.339A>C n.489A>C n.72A>C n.203T>G c.106A>C (p.Thr36Pro) n.869A>C n.815A>C | |
3 | g.193618898A>G | CA355788231 | OPA1,OPA1-AS1 | c.640A>G (p.Thr214Ala) c.586A>G (p.Thr196Ala) c.426A>G c.681A>G c.268A>G (p.Thr90Ala) c.*667A>G (n.*667A>G) c.246A>G c.214A>G (p.Thr72Ala) c.555A>G c.478A>G (p.Thr160Ala) c.532A>G (p.Thr178Ala) c.339A>G n.489A>G n.72A>G n.203T>C c.106A>G (p.Thr36Ala) n.869A>G n.815A>G | ClinVar |
3 | g.193618898A>T | CA355788233 | OPA1,OPA1-AS1 | c.640A>T (p.Thr214Ser) c.586A>T (p.Thr196Ser) c.426A>T c.681A>T c.268A>T (p.Thr90Ser) c.*667A>T (n.*667A>T) c.246A>T c.214A>T (p.Thr72Ser) c.555A>T c.478A>T (p.Thr160Ser) c.532A>T (p.Thr178Ser) c.339A>T n.489A>T n.72A>T n.203T>A c.106A>T (p.Thr36Ser) n.869A>T n.815A>T | |
3 | g.193618899C>A | CA355788236 | OPA1,OPA1-AS1 | c.641C>A (p.Thr214Lys) c.587C>A (p.Thr196Lys) c.427C>A c.682C>A c.269C>A (p.Thr90Lys) c.*668C>A (n.*668C>A) c.247C>A c.215C>A (p.Thr72Lys) c.556C>A c.479C>A (p.Thr160Lys) c.533C>A (p.Thr178Lys) c.340C>A n.490C>A n.73C>A n.202G>T c.107C>A (p.Thr36Lys) n.870C>A n.816C>A | |
3 | g.193618899C= | CA1430262121 | OPA1,OPA1-AS1 | c.641C= (p.Thr214=) c.587C= (p.Thr196=) c.427C= c.682C= c.269C= (p.Thr90=) c.*668C= (n.*668C=) c.247C= c.215C= (p.Thr72=) c.556C= c.479C= (p.Thr160=) c.533C= (p.Thr178=) c.340C= n.490C= n.73C= n.202G= c.107C= (p.Thr36=) n.870C= n.816C= | |
3 | g.193618899C>G | CA355788238 | OPA1,OPA1-AS1 | c.641C>G (p.Thr214Arg) c.587C>G (p.Thr196Arg) c.427C>G c.682C>G c.269C>G (p.Thr90Arg) c.*668C>G (n.*668C>G) c.247C>G c.215C>G (p.Thr72Arg) c.556C>G c.479C>G (p.Thr160Arg) c.533C>G (p.Thr178Arg) c.340C>G n.490C>G n.73C>G n.202G>C c.107C>G (p.Thr36Arg) n.870C>G n.816C>G | ClinVar dbSNP |
3 | g.193618899C>T | CA355788240 | OPA1,OPA1-AS1 | c.641C>T (p.Thr214Ile) c.587C>T (p.Thr196Ile) c.427C>T c.682C>T c.269C>T (p.Thr90Ile) c.*668C>T (n.*668C>T) c.247C>T c.215C>T (p.Thr72Ile) c.556C>T c.479C>T (p.Thr160Ile) c.533C>T (p.Thr178Ile) c.340C>T n.490C>T n.73C>T n.202G>A c.107C>T (p.Thr36Ile) n.870C>T n.816C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.193618899_193618900insTC | CA2550366929 | OPA1,OPA1-AS1 | c.641_642insTC (p.Asp215GlnfsTer?) c.587_588insTC (p.Asp197GlnfsTer?) c.427_428insTC c.682_683insTC c.269_270insTC (p.Asp91GlnfsTer?) c.*668_*669insTC (n.*668_*669insTC) c.247_248insTC c.215_216insTC (p.Asp73GlnfsTer?) c.556_557insTC c.479_480insTC (p.Asp161GlnfsTer?) c.533_534insTC (p.Asp179GlnfsTer?) c.340_341insTC n.490_491insTC n.73_74insTC n.202_203insAG c.107_108insTC (p.Asp37GlnfsTer?) n.870_871insTC n.816_817insTC | |
3 | g.193618900A>C | CA437432414 | OPA1,OPA1-AS1 | c.642A>C (p.Thr214=) c.588A>C (p.Thr196=) c.428A>C c.683A>C c.270A>C (p.Thr90=) c.*669A>C (n.*669A>C) c.248A>C c.216A>C (p.Thr72=) c.557A>C c.480A>C (p.Thr160=) c.534A>C (p.Thr178=) c.341A>C n.491A>C n.74A>C n.201T>G c.108A>C (p.Thr36=) n.871A>C n.817A>C | |
3 | g.193618900A>G | CA437432415 | OPA1,OPA1-AS1 | c.642A>G (p.Thr214=) c.588A>G (p.Thr196=) c.428A>G c.683A>G c.270A>G (p.Thr90=) c.*669A>G (n.*669A>G) c.248A>G c.216A>G (p.Thr72=) c.557A>G c.480A>G (p.Thr160=) c.534A>G (p.Thr178=) c.341A>G n.491A>G n.74A>G n.201T>C c.108A>G (p.Thr36=) n.871A>G n.817A>G | gnomAD v4 |
3 | g.193618900A>T | CA437432416 | OPA1,OPA1-AS1 | c.642A>T (p.Thr214=) c.588A>T (p.Thr196=) c.428A>T c.683A>T c.270A>T (p.Thr90=) c.*669A>T (n.*669A>T) c.248A>T c.216A>T (p.Thr72=) c.557A>T c.480A>T (p.Thr160=) c.534A>T (p.Thr178=) c.341A>T n.491A>T n.74A>T n.201T>A c.108A>T (p.Thr36=) n.871A>T n.817A>T | |
3 | g.193618901G>A | CA355788241 | OPA1,OPA1-AS1 | c.643G>A (p.Asp215Asn) c.589G>A (p.Asp197Asn) c.429G>A c.684G>A c.271G>A (p.Asp91Asn) c.*670G>A (n.*670G>A) c.249G>A c.217G>A (p.Asp73Asn) c.558G>A c.481G>A (p.Asp161Asn) c.535G>A (p.Asp179Asn) c.342G>A n.492G>A n.75G>A n.200C>T c.109G>A (p.Asp37Asn) n.872G>A n.818G>A | |
3 | g.193618901G>C | CA355788242 | OPA1,OPA1-AS1 | c.643G>C (p.Asp215His) c.589G>C (p.Asp197His) c.429G>C c.684G>C c.271G>C (p.Asp91His) c.*670G>C (n.*670G>C) c.249G>C c.217G>C (p.Asp73His) c.558G>C c.481G>C (p.Asp161His) c.535G>C (p.Asp179His) c.342G>C n.492G>C n.75G>C n.200C>G c.109G>C (p.Asp37His) n.872G>C n.818G>C | |
3 | g.193618901G>T | CA355788244 | OPA1,OPA1-AS1 | c.643G>T (p.Asp215Tyr) c.589G>T (p.Asp197Tyr) c.429G>T c.684G>T c.271G>T (p.Asp91Tyr) c.*670G>T (n.*670G>T) c.249G>T c.217G>T (p.Asp73Tyr) c.558G>T c.481G>T (p.Asp161Tyr) c.535G>T (p.Asp179Tyr) c.342G>T n.492G>T n.75G>T n.200C>A c.109G>T (p.Asp37Tyr) n.872G>T n.818G>T | |
3 | g.193618902A>C | CA355788246 | OPA1,OPA1-AS1 | c.644A>C (p.Asp215Ala) c.590A>C (p.Asp197Ala) c.430A>C c.685A>C c.272A>C (p.Asp91Ala) c.*671A>C (n.*671A>C) c.250A>C c.218A>C (p.Asp73Ala) c.559A>C c.482A>C (p.Asp161Ala) c.536A>C (p.Asp179Ala) c.343A>C n.493A>C n.76A>C n.199T>G c.110A>C (p.Asp37Ala) n.873A>C n.819A>C | |
3 | g.193618902A>G | CA355788248 | OPA1,OPA1-AS1 | c.644A>G (p.Asp215Gly) c.590A>G (p.Asp197Gly) c.430A>G c.685A>G c.272A>G (p.Asp91Gly) c.*671A>G (n.*671A>G) c.250A>G c.218A>G (p.Asp73Gly) c.559A>G c.482A>G (p.Asp161Gly) c.536A>G (p.Asp179Gly) c.343A>G n.493A>G n.76A>G n.199T>C c.110A>G (p.Asp37Gly) n.873A>G n.819A>G | gnomAD v4 |
3 | g.193618902A>T | CA355788249 | OPA1,OPA1-AS1 | c.644A>T (p.Asp215Val) c.590A>T (p.Asp197Val) c.430A>T c.685A>T c.272A>T (p.Asp91Val) c.*671A>T (n.*671A>T) c.250A>T c.218A>T (p.Asp73Val) c.559A>T c.482A>T (p.Asp161Val) c.536A>T (p.Asp179Val) c.343A>T n.493A>T n.76A>T n.199T>A c.110A>T (p.Asp37Val) n.873A>T n.819A>T | |
3 | g.193618903_193618904insTCAAAGAATCAAAT | CA2548534905 | OPA1,OPA1-AS1 | c.645_646insTCAAAGAATCAAAT (p.Arg216SerfsTer?) c.591_592insTCAAAGAATCAAAT (p.Arg198SerfsTer?) c.431_432insTCAAAGAATCAAAT c.686_687insTCAAAGAATCAAAT c.273_274insTCAAAGAATCAAAT (p.Arg92SerfsTer?) c.*672_*673insTCAAAGAATCAAAT (n.*672_*673insTCAAAGAATCAAAT) c.251_252insTCAAAGAATCAAAT c.219_220insTCAAAGAATCAAAT (p.Arg74SerfsTer?) c.560_561insTCAAAGAATCAAAT c.483_484insTCAAAGAATCAAAT (p.Arg162SerfsTer?) c.537_538insTCAAAGAATCAAAT (p.Arg180SerfsTer?) c.344_345insTCAAAGAATCAAAT n.494_495insTCAAAGAATCAAAT n.77_78insTCAAAGAATCAAAT n.199_200insTTGATTCTTTGAAT c.111_112insTCAAAGAATCAAAT (p.Arg38SerfsTer?) n.874_875insTCAAAGAATCAAAT n.820_821insTCAAAGAATCAAAT | |
3 | g.193618903T>A | CA355788250 | OPA1,OPA1-AS1 | c.645T>A (p.Asp215Glu) c.591T>A (p.Asp197Glu) c.431T>A c.686T>A c.273T>A (p.Asp91Glu) c.*672T>A (n.*672T>A) c.251T>A c.219T>A (p.Asp73Glu) c.560T>A c.483T>A (p.Asp161Glu) c.537T>A (p.Asp179Glu) c.344T>A n.494T>A n.77T>A n.198A>T c.111T>A (p.Asp37Glu) n.874T>A n.820T>A | |
3 | g.193618903T>C | CA437432417 | OPA1,OPA1-AS1 | c.645T>C (p.Asp215=) c.591T>C (p.Asp197=) c.431T>C c.686T>C c.273T>C (p.Asp91=) c.*672T>C (n.*672T>C) c.251T>C c.219T>C (p.Asp73=) c.560T>C c.483T>C (p.Asp161=) c.537T>C (p.Asp179=) c.344T>C n.494T>C n.77T>C n.198A>G c.111T>C (p.Asp37=) n.874T>C n.820T>C |