| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.193647116_193647128del | CA2586973325 | OPA1 | c.1806_1818del (p.Val603PhefsTer?) c.1641_1653del (p.Val548PhefsTer?) c.1752_1764del (p.Val585PhefsTer?) c.1695_1707del (p.Val566PhefsTer?) c.1580_1592del c.1323_1335del (p.Val442PhefsTer?) c.*1722_*1734del (n.*1722_*1734del) c.1228_1240del c.*125_*137del (n.*125_*137del) c.1610_1622del c.1656_1668del (p.Val553PhefsTer?) c.*1119_*1131del (n.*1119_*1131del) c.*242_*254del (n.*242_*254del) c.629_641del c.1533_1545del (p.Val512PhefsTer?) c.1644_1656del (p.Val549PhefsTer?) c.1698_1710del (p.Val567PhefsTer?) n.139_151del c.1587_1599del (p.Val530PhefsTer?) c.1272_1284del (p.Val425PhefsTer?) c.1269_1281del (p.Val424PhefsTer?) n.2035_2047del n.1870_1882del | |
| 3 | g.193647123_193647124delinsGA | CA1430250675 | OPA1 | c.1813_1814delinsGA (p.Asp605=) c.1648_1649delinsGA (p.Asp550=) c.1759_1760delinsGA (p.Asp587=) c.1702_1703delinsGA (p.Asp568=) c.1587_1588delinsGA c.1330_1331delinsGA (p.Asp444=) c.*1729_*1730delinsGA (n.*1729_*1730delinsGA) c.1235_1236delinsGA c.*132_*133delinsGA (n.*132_*133delinsGA) c.1617_1618delinsGA c.1663_1664delinsGA (p.Asp555=) c.*1126_*1127delinsGA (n.*1126_*1127delinsGA) c.*249_*250delinsGA (n.*249_*250delinsGA) c.636_637delinsGA c.1540_1541delinsGA (p.Asp514=) c.1651_1652delinsGA (p.Asp551=) c.1705_1706delinsGA (p.Asp569=) n.146_147delinsGA c.1594_1595delinsGA (p.Asp532=) c.1279_1280delinsGA (p.Asp427=) c.1276_1277delinsGA (p.Asp426=) n.2042_2043delinsGA n.1877_1878delinsGA | |
| 3 | g.193647124del | CA16617865 | OPA1 | c.1814del (p.Asp605AlafsTer?) c.1649del (p.Asp550AlafsTer?) c.1760del (p.Asp587AlafsTer?) c.1703del (p.Asp568AlafsTer?) c.1588del c.1331del (p.Asp444AlafsTer?) c.*1730del (n.*1730del) c.1236del c.*133del (n.*133del) c.1618del c.1664del (p.Asp555AlafsTer?) c.*1127del (n.*1127del) c.*250del (n.*250del) c.637del c.1541del (p.Asp514AlafsTer?) c.1652del (p.Asp551AlafsTer?) c.1706del (p.Asp569AlafsTer?) n.147del c.1595del (p.Asp532AlafsTer?) c.1280del (p.Asp427AlafsTer?) c.1277del (p.Asp426AlafsTer?) n.2043del n.1878del | ClinVar dbSNP |
| 3 | g.193647124A>C | CA355790472 | OPA1 | c.1814A>C (p.Asp605Ala) c.1649A>C (p.Asp550Ala) c.1760A>C (p.Asp587Ala) c.1703A>C (p.Asp568Ala) c.1588A>C c.1331A>C (p.Asp444Ala) c.*1730A>C (n.*1730A>C) c.1236A>C c.*133A>C (n.*133A>C) c.1618A>C c.1664A>C (p.Asp555Ala) c.*1127A>C (n.*1127A>C) c.*250A>C (n.*250A>C) c.637A>C c.1541A>C (p.Asp514Ala) c.1652A>C (p.Asp551Ala) c.1706A>C (p.Asp569Ala) n.147A>C c.1595A>C (p.Asp532Ala) c.1280A>C (p.Asp427Ala) c.1277A>C (p.Asp426Ala) n.2043A>C n.1878A>C | |
| 3 | g.193647124A>G | CA355790470 | OPA1 | c.1814A>G (p.Asp605Gly) c.1649A>G (p.Asp550Gly) c.1760A>G (p.Asp587Gly) c.1703A>G (p.Asp568Gly) c.1588A>G c.1331A>G (p.Asp444Gly) c.*1730A>G (n.*1730A>G) c.1236A>G c.*133A>G (n.*133A>G) c.1618A>G c.1664A>G (p.Asp555Gly) c.*1127A>G (n.*1127A>G) c.*250A>G (n.*250A>G) c.637A>G c.1541A>G (p.Asp514Gly) c.1652A>G (p.Asp551Gly) c.1706A>G (p.Asp569Gly) n.147A>G c.1595A>G (p.Asp532Gly) c.1280A>G (p.Asp427Gly) c.1277A>G (p.Asp426Gly) n.2043A>G n.1878A>G | |
| 3 | g.193647124A>T | CA355790471 | OPA1 | c.1814A>T (p.Asp605Val) c.1649A>T (p.Asp550Val) c.1760A>T (p.Asp587Val) c.1703A>T (p.Asp568Val) c.1588A>T c.1331A>T (p.Asp444Val) c.*1730A>T (n.*1730A>T) c.1236A>T c.*133A>T (n.*133A>T) c.1618A>T c.1664A>T (p.Asp555Val) c.*1127A>T (n.*1127A>T) c.*250A>T (n.*250A>T) c.637A>T c.1541A>T (p.Asp514Val) c.1652A>T (p.Asp551Val) c.1706A>T (p.Asp569Val) n.147A>T c.1595A>T (p.Asp532Val) c.1280A>T (p.Asp427Val) c.1277A>T (p.Asp426Val) n.2043A>T n.1878A>T | |
| 3 | g.193647125C>A | CA355790473 | OPA1 | c.1815C>A (p.Asp605Glu) c.1650C>A (p.Asp550Glu) c.1761C>A (p.Asp587Glu) c.1704C>A (p.Asp568Glu) c.1589C>A c.1332C>A (p.Asp444Glu) c.*1731C>A (n.*1731C>A) c.1237C>A c.*134C>A (n.*134C>A) c.1619C>A c.1665C>A (p.Asp555Glu) c.*1128C>A (n.*1128C>A) c.*251C>A (n.*251C>A) c.638C>A c.1542C>A (p.Asp514Glu) c.1653C>A (p.Asp551Glu) c.1707C>A (p.Asp569Glu) n.148C>A c.1596C>A (p.Asp532Glu) c.1281C>A (p.Asp427Glu) c.1278C>A (p.Asp426Glu) n.2044C>A n.1879C>A | |
| 3 | g.193647125C>G | CA355790474 | OPA1 | c.1815C>G (p.Asp605Glu) c.1650C>G (p.Asp550Glu) c.1761C>G (p.Asp587Glu) c.1704C>G (p.Asp568Glu) c.1589C>G c.1332C>G (p.Asp444Glu) c.*1731C>G (n.*1731C>G) c.1237C>G c.*134C>G (n.*134C>G) c.1619C>G c.1665C>G (p.Asp555Glu) c.*1128C>G (n.*1128C>G) c.*251C>G (n.*251C>G) c.638C>G c.1542C>G (p.Asp514Glu) c.1653C>G (p.Asp551Glu) c.1707C>G (p.Asp569Glu) n.148C>G c.1596C>G (p.Asp532Glu) c.1281C>G (p.Asp427Glu) c.1278C>G (p.Asp426Glu) n.2044C>G n.1879C>G | |
| 3 | g.193647125C>T | CA437437532 | OPA1 | c.1815C>T (p.Asp605=) c.1650C>T (p.Asp550=) c.1761C>T (p.Asp587=) c.1704C>T (p.Asp568=) c.1589C>T c.1332C>T (p.Asp444=) c.*1731C>T (n.*1731C>T) c.1237C>T c.*134C>T (n.*134C>T) c.1619C>T c.1665C>T (p.Asp555=) c.*1128C>T (n.*1128C>T) c.*251C>T (n.*251C>T) c.638C>T c.1542C>T (p.Asp514=) c.1653C>T (p.Asp551=) c.1707C>T (p.Asp569=) n.148C>T c.1596C>T (p.Asp532=) c.1281C>T (p.Asp427=) c.1278C>T (p.Asp426=) n.2044C>T n.1879C>T | |
| 3 | g.193647127_193647129del | CA2586973328 | OPA1 | c.1817_1819del (p.Cys606del) c.1652_1654del (p.Cys551del) c.1763_1765del (p.Cys588del) c.1706_1708del (p.Cys569del) c.1591_1593del c.1334_1336del (p.Cys445del) c.*1733_*1735del (n.*1733_*1735del) c.1239_1241del c.*136_*138del (n.*136_*138del) c.1621_1623del c.1667_1669del (p.Cys556del) c.*1130_*1132del (n.*1130_*1132del) c.*253_*255del (n.*253_*255del) c.640_642del c.1544_1546del (p.Cys515del) c.1655_1657del (p.Cys552del) c.1709_1711del (p.Cys570del) n.150_152del c.1598_1600del (p.Cys533del) c.1283_1285del (p.Cys428del) c.1280_1282del (p.Cys427del) n.2046_2048del n.1881_1883del | |
| 3 | g.193647126T>A | CA355790475 | OPA1 | c.1816T>A (p.Cys606Ser) c.1651T>A (p.Cys551Ser) c.1762T>A (p.Cys588Ser) c.1705T>A (p.Cys569Ser) c.1590T>A c.1333T>A (p.Cys445Ser) c.*1732T>A (n.*1732T>A) c.1238T>A c.*135T>A (n.*135T>A) c.1620T>A c.1666T>A (p.Cys556Ser) c.*1129T>A (n.*1129T>A) c.*252T>A (n.*252T>A) c.639T>A c.1543T>A (p.Cys515Ser) c.1654T>A (p.Cys552Ser) c.1708T>A (p.Cys570Ser) n.149T>A c.1597T>A (p.Cys533Ser) c.1282T>A (p.Cys428Ser) c.1279T>A (p.Cys427Ser) n.2045T>A n.1880T>A | |
| 3 | g.193647126T>C | CA355790476 | OPA1 | c.1816T>C (p.Cys606Arg) c.1651T>C (p.Cys551Arg) c.1762T>C (p.Cys588Arg) c.1705T>C (p.Cys569Arg) c.1590T>C c.1333T>C (p.Cys445Arg) c.*1732T>C (n.*1732T>C) c.1238T>C c.*135T>C (n.*135T>C) c.1620T>C c.1666T>C (p.Cys556Arg) c.*1129T>C (n.*1129T>C) c.*252T>C (n.*252T>C) c.639T>C c.1543T>C (p.Cys515Arg) c.1654T>C (p.Cys552Arg) c.1708T>C (p.Cys570Arg) n.149T>C c.1597T>C (p.Cys533Arg) c.1282T>C (p.Cys428Arg) c.1279T>C (p.Cys427Arg) n.2045T>C n.1880T>C | |
| 3 | g.193647126T>G | CA355790477 | OPA1 | c.1816T>G (p.Cys606Gly) c.1651T>G (p.Cys551Gly) c.1762T>G (p.Cys588Gly) c.1705T>G (p.Cys569Gly) c.1590T>G c.1333T>G (p.Cys445Gly) c.*1732T>G (n.*1732T>G) c.1238T>G c.*135T>G (n.*135T>G) c.1620T>G c.1666T>G (p.Cys556Gly) c.*1129T>G (n.*1129T>G) c.*252T>G (n.*252T>G) c.639T>G c.1543T>G (p.Cys515Gly) c.1654T>G (p.Cys552Gly) c.1708T>G (p.Cys570Gly) n.149T>G c.1597T>G (p.Cys533Gly) c.1282T>G (p.Cys428Gly) c.1279T>G (p.Cys427Gly) n.2045T>G n.1880T>G | |
| 3 | g.193647127G>A | CA10576004 | OPA1 | c.1817G>A (p.Cys606Tyr) c.1652G>A (p.Cys551Tyr) c.1763G>A (p.Cys588Tyr) c.1706G>A (p.Cys569Tyr) c.1591G>A c.1334G>A (p.Cys445Tyr) c.*1733G>A (n.*1733G>A) c.1239G>A c.*136G>A (n.*136G>A) c.1621G>A c.1667G>A (p.Cys556Tyr) c.*1130G>A (n.*1130G>A) c.*253G>A (n.*253G>A) c.640G>A c.1544G>A (p.Cys515Tyr) c.1655G>A (p.Cys552Tyr) c.1709G>A (p.Cys570Tyr) n.150G>A c.1598G>A (p.Cys533Tyr) c.1283G>A (p.Cys428Tyr) c.1280G>A (p.Cys427Tyr) n.2046G>A n.1881G>A | ClinVar dbSNP |
| 3 | g.193647127G>C | CA355790478 | OPA1 | c.1817G>C (p.Cys606Ser) c.1652G>C (p.Cys551Ser) c.1763G>C (p.Cys588Ser) c.1706G>C (p.Cys569Ser) c.1591G>C c.1334G>C (p.Cys445Ser) c.*1733G>C (n.*1733G>C) c.1239G>C c.*136G>C (n.*136G>C) c.1621G>C c.1667G>C (p.Cys556Ser) c.*1130G>C (n.*1130G>C) c.*253G>C (n.*253G>C) c.640G>C c.1544G>C (p.Cys515Ser) c.1655G>C (p.Cys552Ser) c.1709G>C (p.Cys570Ser) n.150G>C c.1598G>C (p.Cys533Ser) c.1283G>C (p.Cys428Ser) c.1280G>C (p.Cys427Ser) n.2046G>C n.1881G>C | |
| 3 | g.193647127G= | CA1430250687 | OPA1 | c.1817G= (p.Cys606=) c.1652G= (p.Cys551=) c.1763G= (p.Cys588=) c.1706G= (p.Cys569=) c.1591G= c.1334G= (p.Cys445=) c.*1733G= (n.*1733G=) c.1239G= c.*136G= (n.*136G=) c.1621G= c.1667G= (p.Cys556=) c.*1130G= (n.*1130G=) c.*253G= (n.*253G=) c.640G= c.1544G= (p.Cys515=) c.1655G= (p.Cys552=) c.1709G= (p.Cys570=) n.150G= c.1598G= (p.Cys533=) c.1283G= (p.Cys428=) c.1280G= (p.Cys427=) n.2046G= n.1881G= | |
| 3 | g.193647127G>T | CA355790479 | OPA1 | c.1817G>T (p.Cys606Phe) c.1652G>T (p.Cys551Phe) c.1763G>T (p.Cys588Phe) c.1706G>T (p.Cys569Phe) c.1591G>T c.1334G>T (p.Cys445Phe) c.*1733G>T (n.*1733G>T) c.1239G>T c.*136G>T (n.*136G>T) c.1621G>T c.1667G>T (p.Cys556Phe) c.*1130G>T (n.*1130G>T) c.*253G>T (n.*253G>T) c.640G>T c.1544G>T (p.Cys515Phe) c.1655G>T (p.Cys552Phe) c.1709G>T (p.Cys570Phe) n.150G>T c.1598G>T (p.Cys533Phe) c.1283G>T (p.Cys428Phe) c.1280G>T (p.Cys427Phe) n.2046G>T n.1881G>T | |
| 3 | g.193647128C>A | CA355790480 | OPA1 | c.1818C>A (p.Cys606Ter) c.1653C>A (p.Cys551Ter) c.1764C>A (p.Cys588Ter) c.1707C>A (p.Cys569Ter) c.1592C>A c.1335C>A (p.Cys445Ter) c.*1734C>A (n.*1734C>A) c.1240C>A c.*137C>A (n.*137C>A) c.1622C>A c.1668C>A (p.Cys556Ter) c.*1131C>A (n.*1131C>A) c.*254C>A (n.*254C>A) c.641C>A c.1545C>A (p.Cys515Ter) c.1656C>A (p.Cys552Ter) c.1710C>A (p.Cys570Ter) n.151C>A c.1599C>A (p.Cys533Ter) c.1284C>A (p.Cys428Ter) c.1281C>A (p.Cys427Ter) n.2047C>A n.1882C>A | |
| 3 | g.193647128C>G | CA355790481 | OPA1 | c.1818C>G (p.Cys606Trp) c.1653C>G (p.Cys551Trp) c.1764C>G (p.Cys588Trp) c.1707C>G (p.Cys569Trp) c.1592C>G c.1335C>G (p.Cys445Trp) c.*1734C>G (n.*1734C>G) c.1240C>G c.*137C>G (n.*137C>G) c.1622C>G c.1668C>G (p.Cys556Trp) c.*1131C>G (n.*1131C>G) c.*254C>G (n.*254C>G) c.641C>G c.1545C>G (p.Cys515Trp) c.1656C>G (p.Cys552Trp) c.1710C>G (p.Cys570Trp) n.151C>G c.1599C>G (p.Cys533Trp) c.1284C>G (p.Cys428Trp) c.1281C>G (p.Cys427Trp) n.2047C>G n.1882C>G | |
| 3 | g.193647128C>T | CA437437533 | OPA1 | c.1818C>T (p.Cys606=) c.1653C>T (p.Cys551=) c.1764C>T (p.Cys588=) c.1707C>T (p.Cys569=) c.1592C>T c.1335C>T (p.Cys445=) c.*1734C>T (n.*1734C>T) c.1240C>T c.*137C>T (n.*137C>T) c.1622C>T c.1668C>T (p.Cys556=) c.*1131C>T (n.*1131C>T) c.*254C>T (n.*254C>T) c.641C>T c.1545C>T (p.Cys515=) c.1656C>T (p.Cys552=) c.1710C>T (p.Cys570=) n.151C>T c.1599C>T (p.Cys533=) c.1284C>T (p.Cys428=) c.1281C>T (p.Cys427=) n.2047C>T n.1882C>T | |
| 3 | g.193647129T>A | CA355790482 | OPA1 | c.1819T>A (p.Phe607Ile) c.1654T>A (p.Phe552Ile) c.1765T>A (p.Phe589Ile) c.1708T>A (p.Phe570Ile) c.1593T>A c.1336T>A (p.Phe446Ile) c.*1735T>A (n.*1735T>A) c.1241T>A c.*138T>A (n.*138T>A) c.1623T>A c.1669T>A (p.Phe557Ile) c.*1132T>A (n.*1132T>A) c.*255T>A (n.*255T>A) c.642T>A c.1546T>A (p.Phe516Ile) c.1657T>A (p.Phe553Ile) c.1711T>A (p.Phe571Ile) n.152T>A c.1600T>A (p.Phe534Ile) c.1285T>A (p.Phe429Ile) c.1282T>A (p.Phe428Ile) n.2048T>A n.1883T>A | |
| 3 | g.193647129T>C | CA355790483 | OPA1 | c.1819T>C (p.Phe607Leu) c.1654T>C (p.Phe552Leu) c.1765T>C (p.Phe589Leu) c.1708T>C (p.Phe570Leu) c.1593T>C c.1336T>C (p.Phe446Leu) c.*1735T>C (n.*1735T>C) c.1241T>C c.*138T>C (n.*138T>C) c.1623T>C c.1669T>C (p.Phe557Leu) c.*1132T>C (n.*1132T>C) c.*255T>C (n.*255T>C) c.642T>C c.1546T>C (p.Phe516Leu) c.1657T>C (p.Phe553Leu) c.1711T>C (p.Phe571Leu) n.152T>C c.1600T>C (p.Phe534Leu) c.1285T>C (p.Phe429Leu) c.1282T>C (p.Phe428Leu) n.2048T>C n.1883T>C | ClinVar dbSNP |
| 3 | g.193647129T>G | CA355790484 | OPA1 | c.1819T>G (p.Phe607Val) c.1654T>G (p.Phe552Val) c.1765T>G (p.Phe589Val) c.1708T>G (p.Phe570Val) c.1593T>G c.1336T>G (p.Phe446Val) c.*1735T>G (n.*1735T>G) c.1241T>G c.*138T>G (n.*138T>G) c.1623T>G c.1669T>G (p.Phe557Val) c.*1132T>G (n.*1132T>G) c.*255T>G (n.*255T>G) c.642T>G c.1546T>G (p.Phe516Val) c.1657T>G (p.Phe553Val) c.1711T>G (p.Phe571Val) n.152T>G c.1600T>G (p.Phe534Val) c.1285T>G (p.Phe429Val) c.1282T>G (p.Phe428Val) n.2048T>G n.1883T>G | |
| 3 | g.193647129T= | CA1430250696 | OPA1 | c.1819T= (p.Phe607=) c.1654T= (p.Phe552=) c.1765T= (p.Phe589=) c.1708T= (p.Phe570=) c.1593T= c.1336T= (p.Phe446=) c.*1735T= (n.*1735T=) c.1241T= c.*138T= (n.*138T=) c.1623T= c.1669T= (p.Phe557=) c.*1132T= (n.*1132T=) c.*255T= (n.*255T=) c.642T= c.1546T= (p.Phe516=) c.1657T= (p.Phe553=) c.1711T= (p.Phe571=) n.152T= c.1600T= (p.Phe534=) c.1285T= (p.Phe429=) c.1282T= (p.Phe428=) n.2048T= n.1883T= | |
| 3 | g.193647132del | CA2586973329 | OPA1 | c.1822del (p.Trp608GlyfsTer?) c.1657del (p.Trp553GlyfsTer?) c.1768del (p.Trp590GlyfsTer?) c.1711del (p.Trp571GlyfsTer?) c.1596del c.1339del (p.Trp447GlyfsTer?) c.*1738del (n.*1738del) c.1244del c.*141del (n.*141del) c.1626del c.1672del (p.Trp558GlyfsTer?) c.*1135del (n.*1135del) c.*258del (n.*258del) c.645del c.1549del (p.Trp517GlyfsTer?) c.1660del (p.Trp554GlyfsTer?) c.1714del (p.Trp572GlyfsTer?) n.155del c.1603del (p.Trp535GlyfsTer?) c.1288del (p.Trp430GlyfsTer?) c.1285del (p.Trp429GlyfsTer?) n.2051del n.1886del | |
| 3 | g.193647130T>A | CA355790485 | OPA1 | c.1820T>A (p.Phe607Tyr) c.1655T>A (p.Phe552Tyr) c.1766T>A (p.Phe589Tyr) c.1709T>A (p.Phe570Tyr) c.1594T>A c.1337T>A (p.Phe446Tyr) c.*1736T>A (n.*1736T>A) c.1242T>A c.*139T>A (n.*139T>A) c.1624T>A c.1670T>A (p.Phe557Tyr) c.*1133T>A (n.*1133T>A) c.*256T>A (n.*256T>A) c.643T>A c.1547T>A (p.Phe516Tyr) c.1658T>A (p.Phe553Tyr) c.1712T>A (p.Phe571Tyr) n.153T>A c.1601T>A (p.Phe534Tyr) c.1286T>A (p.Phe429Tyr) c.1283T>A (p.Phe428Tyr) n.2049T>A n.1884T>A | |
| 3 | g.193647130T>C | CA355790486 | OPA1 | c.1820T>C (p.Phe607Ser) c.1655T>C (p.Phe552Ser) c.1766T>C (p.Phe589Ser) c.1709T>C (p.Phe570Ser) c.1594T>C c.1337T>C (p.Phe446Ser) c.*1736T>C (n.*1736T>C) c.1242T>C c.*139T>C (n.*139T>C) c.1624T>C c.1670T>C (p.Phe557Ser) c.*1133T>C (n.*1133T>C) c.*256T>C (n.*256T>C) c.643T>C c.1547T>C (p.Phe516Ser) c.1658T>C (p.Phe553Ser) c.1712T>C (p.Phe571Ser) n.153T>C c.1601T>C (p.Phe534Ser) c.1286T>C (p.Phe429Ser) c.1283T>C (p.Phe428Ser) n.2049T>C n.1884T>C | |
| 3 | g.193647130T>G | CA355790487 | OPA1 | c.1820T>G (p.Phe607Cys) c.1655T>G (p.Phe552Cys) c.1766T>G (p.Phe589Cys) c.1709T>G (p.Phe570Cys) c.1594T>G c.1337T>G (p.Phe446Cys) c.*1736T>G (n.*1736T>G) c.1242T>G c.*139T>G (n.*139T>G) c.1624T>G c.1670T>G (p.Phe557Cys) c.*1133T>G (n.*1133T>G) c.*256T>G (n.*256T>G) c.643T>G c.1547T>G (p.Phe516Cys) c.1658T>G (p.Phe553Cys) c.1712T>G (p.Phe571Cys) n.153T>G c.1601T>G (p.Phe534Cys) c.1286T>G (p.Phe429Cys) c.1283T>G (p.Phe428Cys) n.2049T>G n.1884T>G | |
| 3 | g.193647131T>A | CA355790488 | OPA1 | c.1821T>A (p.Phe607Leu) c.1656T>A (p.Phe552Leu) c.1767T>A (p.Phe589Leu) c.1710T>A (p.Phe570Leu) c.1595T>A c.1338T>A (p.Phe446Leu) c.*1737T>A (n.*1737T>A) c.1243T>A c.*140T>A (n.*140T>A) c.1625T>A c.1671T>A (p.Phe557Leu) c.*1134T>A (n.*1134T>A) c.*257T>A (n.*257T>A) c.644T>A c.1548T>A (p.Phe516Leu) c.1659T>A (p.Phe553Leu) c.1713T>A (p.Phe571Leu) n.154T>A c.1602T>A (p.Phe534Leu) c.1287T>A (p.Phe429Leu) c.1284T>A (p.Phe428Leu) n.2050T>A n.1885T>A | |
| 3 | g.193647131T>C | CA437437534 | OPA1 | c.1821T>C (p.Phe607=) c.1656T>C (p.Phe552=) c.1767T>C (p.Phe589=) c.1710T>C (p.Phe570=) c.1595T>C c.1338T>C (p.Phe446=) c.*1737T>C (n.*1737T>C) c.1243T>C c.*140T>C (n.*140T>C) c.1625T>C c.1671T>C (p.Phe557=) c.*1134T>C (n.*1134T>C) c.*257T>C (n.*257T>C) c.644T>C c.1548T>C (p.Phe516=) c.1659T>C (p.Phe553=) c.1713T>C (p.Phe571=) n.154T>C c.1602T>C (p.Phe534=) c.1287T>C (p.Phe429=) c.1284T>C (p.Phe428=) n.2050T>C n.1885T>C | |
| 3 | g.193647131T>G | CA355790489 | OPA1 | c.1821T>G (p.Phe607Leu) c.1656T>G (p.Phe552Leu) c.1767T>G (p.Phe589Leu) c.1710T>G (p.Phe570Leu) c.1595T>G c.1338T>G (p.Phe446Leu) c.*1737T>G (n.*1737T>G) c.1243T>G c.*140T>G (n.*140T>G) c.1625T>G c.1671T>G (p.Phe557Leu) c.*1134T>G (n.*1134T>G) c.*257T>G (n.*257T>G) c.644T>G c.1548T>G (p.Phe516Leu) c.1659T>G (p.Phe553Leu) c.1713T>G (p.Phe571Leu) n.154T>G c.1602T>G (p.Phe534Leu) c.1287T>G (p.Phe429Leu) c.1284T>G (p.Phe428Leu) n.2050T>G n.1885T>G | |
| 3 | g.193647132T>A | CA355790490 | OPA1 | c.1822T>A (p.Trp608Arg) c.1657T>A (p.Trp553Arg) c.1768T>A (p.Trp590Arg) c.1711T>A (p.Trp571Arg) c.1596T>A c.1339T>A (p.Trp447Arg) c.*1738T>A (n.*1738T>A) c.1244T>A c.*141T>A (n.*141T>A) c.1626T>A c.1672T>A (p.Trp558Arg) c.*1135T>A (n.*1135T>A) c.*258T>A (n.*258T>A) c.645T>A c.1549T>A (p.Trp517Arg) c.1660T>A (p.Trp554Arg) c.1714T>A (p.Trp572Arg) n.155T>A c.1603T>A (p.Trp535Arg) c.1288T>A (p.Trp430Arg) c.1285T>A (p.Trp429Arg) n.2051T>A n.1886T>A | |
| 3 | g.193647132T>C | CA355790491 | OPA1 | c.1822T>C (p.Trp608Arg) c.1657T>C (p.Trp553Arg) c.1768T>C (p.Trp590Arg) c.1711T>C (p.Trp571Arg) c.1596T>C c.1339T>C (p.Trp447Arg) c.*1738T>C (n.*1738T>C) c.1244T>C c.*141T>C (n.*141T>C) c.1626T>C c.1672T>C (p.Trp558Arg) c.*1135T>C (n.*1135T>C) c.*258T>C (n.*258T>C) c.645T>C c.1549T>C (p.Trp517Arg) c.1660T>C (p.Trp554Arg) c.1714T>C (p.Trp572Arg) n.155T>C c.1603T>C (p.Trp535Arg) c.1288T>C (p.Trp430Arg) c.1285T>C (p.Trp429Arg) n.2051T>C n.1886T>C | |
| 3 | g.193647132T>G | CA355790492 | OPA1 | c.1822T>G (p.Trp608Gly) c.1657T>G (p.Trp553Gly) c.1768T>G (p.Trp590Gly) c.1711T>G (p.Trp571Gly) c.1596T>G c.1339T>G (p.Trp447Gly) c.*1738T>G (n.*1738T>G) c.1244T>G c.*141T>G (n.*141T>G) c.1626T>G c.1672T>G (p.Trp558Gly) c.*1135T>G (n.*1135T>G) c.*258T>G (n.*258T>G) c.645T>G c.1549T>G (p.Trp517Gly) c.1660T>G (p.Trp554Gly) c.1714T>G (p.Trp572Gly) n.155T>G c.1603T>G (p.Trp535Gly) c.1288T>G (p.Trp430Gly) c.1285T>G (p.Trp429Gly) n.2051T>G n.1886T>G | |
| 3 | g.193647133G>A | CA355790493 | OPA1 | c.1823G>A (p.Trp608Ter) c.1658G>A (p.Trp553Ter) c.1769G>A (p.Trp590Ter) c.1712G>A (p.Trp571Ter) c.1597G>A c.1340G>A (p.Trp447Ter) c.*1739G>A (n.*1739G>A) c.1245G>A c.*142G>A (n.*142G>A) c.1627G>A c.1673G>A (p.Trp558Ter) c.*1136G>A (n.*1136G>A) c.*259G>A (n.*259G>A) c.646G>A c.1550G>A (p.Trp517Ter) c.1661G>A (p.Trp554Ter) c.1715G>A (p.Trp572Ter) n.156G>A c.1604G>A (p.Trp535Ter) c.1289G>A (p.Trp430Ter) c.1286G>A (p.Trp429Ter) n.2052G>A n.1887G>A | |
| 3 | g.193647133G>C | CA355790495 | OPA1 | c.1823G>C (p.Trp608Ser) c.1658G>C (p.Trp553Ser) c.1769G>C (p.Trp590Ser) c.1712G>C (p.Trp571Ser) c.1597G>C c.1340G>C (p.Trp447Ser) c.*1739G>C (n.*1739G>C) c.1245G>C c.*142G>C (n.*142G>C) c.1627G>C c.1673G>C (p.Trp558Ser) c.*1136G>C (n.*1136G>C) c.*259G>C (n.*259G>C) c.646G>C c.1550G>C (p.Trp517Ser) c.1661G>C (p.Trp554Ser) c.1715G>C (p.Trp572Ser) n.156G>C c.1604G>C (p.Trp535Ser) c.1289G>C (p.Trp430Ser) c.1286G>C (p.Trp429Ser) n.2052G>C n.1887G>C | |
| 3 | g.193647133G>T | CA355790494 | OPA1 | c.1823G>T (p.Trp608Leu) c.1658G>T (p.Trp553Leu) c.1769G>T (p.Trp590Leu) c.1712G>T (p.Trp571Leu) c.1597G>T c.1340G>T (p.Trp447Leu) c.*1739G>T (n.*1739G>T) c.1245G>T c.*142G>T (n.*142G>T) c.1627G>T c.1673G>T (p.Trp558Leu) c.*1136G>T (n.*1136G>T) c.*259G>T (n.*259G>T) c.646G>T c.1550G>T (p.Trp517Leu) c.1661G>T (p.Trp554Leu) c.1715G>T (p.Trp572Leu) n.156G>T c.1604G>T (p.Trp535Leu) c.1289G>T (p.Trp430Leu) c.1286G>T (p.Trp429Leu) n.2052G>T n.1887G>T | COSMIC |
| 3 | g.193647134G>A | CA355790496 | OPA1 | c.1824G>A (p.Trp608Ter) c.1659G>A (p.Trp553Ter) c.1770G>A (p.Trp590Ter) c.1713G>A (p.Trp571Ter) c.1598G>A c.1341G>A (p.Trp447Ter) c.*1740G>A (n.*1740G>A) c.1246G>A c.*143G>A (n.*143G>A) c.1628G>A c.1674G>A (p.Trp558Ter) c.*1137G>A (n.*1137G>A) c.*260G>A (n.*260G>A) c.647G>A c.1551G>A (p.Trp517Ter) c.1662G>A (p.Trp554Ter) c.1716G>A (p.Trp572Ter) n.157G>A c.1605G>A (p.Trp535Ter) c.1290G>A (p.Trp430Ter) c.1287G>A (p.Trp429Ter) n.2053G>A n.1888G>A | |
| 3 | g.193647134G>C | CA355790497 | OPA1 | c.1824G>C (p.Trp608Cys) c.1659G>C (p.Trp553Cys) c.1770G>C (p.Trp590Cys) c.1713G>C (p.Trp571Cys) c.1598G>C c.1341G>C (p.Trp447Cys) c.*1740G>C (n.*1740G>C) c.1246G>C c.*143G>C (n.*143G>C) c.1628G>C c.1674G>C (p.Trp558Cys) c.*1137G>C (n.*1137G>C) c.*260G>C (n.*260G>C) c.647G>C c.1551G>C (p.Trp517Cys) c.1662G>C (p.Trp554Cys) c.1716G>C (p.Trp572Cys) n.157G>C c.1605G>C (p.Trp535Cys) c.1290G>C (p.Trp430Cys) c.1287G>C (p.Trp429Cys) n.2053G>C n.1888G>C | |
| 3 | g.193647134G>T | CA355790498 | OPA1 | c.1824G>T (p.Trp608Cys) c.1659G>T (p.Trp553Cys) c.1770G>T (p.Trp590Cys) c.1713G>T (p.Trp571Cys) c.1598G>T c.1341G>T (p.Trp447Cys) c.*1740G>T (n.*1740G>T) c.1246G>T c.*143G>T (n.*143G>T) c.1628G>T c.1674G>T (p.Trp558Cys) c.*1137G>T (n.*1137G>T) c.*260G>T (n.*260G>T) c.647G>T c.1551G>T (p.Trp517Cys) c.1662G>T (p.Trp554Cys) c.1716G>T (p.Trp572Cys) n.157G>T c.1605G>T (p.Trp535Cys) c.1290G>T (p.Trp430Cys) c.1287G>T (p.Trp429Cys) n.2053G>T n.1888G>T | |
| 3 | g.193647135A>C | CA355790499 | OPA1 | c.1825A>C (p.Lys609Gln) c.1660A>C (p.Lys554Gln) c.1771A>C (p.Lys591Gln) c.1714A>C (p.Lys572Gln) c.1599A>C c.1342A>C (p.Lys448Gln) c.*1741A>C (n.*1741A>C) c.1247A>C c.*144A>C (n.*144A>C) c.1629A>C c.1675A>C (p.Lys559Gln) c.*1138A>C (n.*1138A>C) c.*261A>C (n.*261A>C) c.648A>C c.1552A>C (p.Lys518Gln) c.1663A>C (p.Lys555Gln) c.1717A>C (p.Lys573Gln) n.158A>C c.1606A>C (p.Lys536Gln) c.1291A>C (p.Lys431Gln) c.1288A>C (p.Lys430Gln) n.2054A>C n.1889A>C | |
| 3 | g.193647135A>G | CA355790500 | OPA1 | c.1825A>G (p.Lys609Glu) c.1660A>G (p.Lys554Glu) c.1771A>G (p.Lys591Glu) c.1714A>G (p.Lys572Glu) c.1599A>G c.1342A>G (p.Lys448Glu) c.*1741A>G (n.*1741A>G) c.1247A>G c.*144A>G (n.*144A>G) c.1629A>G c.1675A>G (p.Lys559Glu) c.*1138A>G (n.*1138A>G) c.*261A>G (n.*261A>G) c.648A>G c.1552A>G (p.Lys518Glu) c.1663A>G (p.Lys555Glu) c.1717A>G (p.Lys573Glu) n.158A>G c.1606A>G (p.Lys536Glu) c.1291A>G (p.Lys431Glu) c.1288A>G (p.Lys430Glu) n.2054A>G n.1889A>G | |
| 3 | g.193647135A>T | CA355790501 | OPA1 | c.1825A>T (p.Lys609Ter) c.1660A>T (p.Lys554Ter) c.1771A>T (p.Lys591Ter) c.1714A>T (p.Lys572Ter) c.1599A>T c.1342A>T (p.Lys448Ter) c.*1741A>T (n.*1741A>T) c.1247A>T c.*144A>T (n.*144A>T) c.1629A>T c.1675A>T (p.Lys559Ter) c.*1138A>T (n.*1138A>T) c.*261A>T (n.*261A>T) c.648A>T c.1552A>T (p.Lys518Ter) c.1663A>T (p.Lys555Ter) c.1717A>T (p.Lys573Ter) n.158A>T c.1606A>T (p.Lys536Ter) c.1291A>T (p.Lys431Ter) c.1288A>T (p.Lys430Ter) n.2054A>T n.1889A>T | |
| 3 | g.193647138dup | CA2586973330 | OPA1 | c.1828dup (p.Met610AsnfsTer7) c.1663dup (p.Met555AsnfsTer7) c.1774dup (p.Met592AsnfsTer7) c.1717dup (p.Met573AsnfsTer7) c.1602dup c.1345dup (p.Met449AsnfsTer7) c.*1744dup (n.*1744dup) c.1250dup c.*147dup (n.*147dup) c.1632dup c.1678dup (p.Met560AsnfsTer7) c.*1141dup (n.*1141dup) c.*264dup (n.*264dup) c.651dup c.1555dup (p.Met519AsnfsTer7) c.1666dup (p.Met556AsnfsTer7) c.1720dup (p.Met574AsnfsTer7) n.161dup c.1609dup (p.Met537AsnfsTer7) c.1294dup (p.Met432AsnfsTer7) c.1291dup (p.Met431AsnfsTer7) n.2057dup n.1892dup | |
| 3 | g.193647138del | CA2669105965 | OPA1 | c.1828del (p.Met610TrpfsTer?) c.1663del (p.Met555TrpfsTer?) c.1774del (p.Met592TrpfsTer?) c.1717del (p.Met573TrpfsTer?) c.1602del c.1345del (p.Met449TrpfsTer?) c.*1744del (n.*1744del) c.1250del c.*147del (n.*147del) c.1632del c.1678del (p.Met560TrpfsTer?) c.*1141del (n.*1141del) c.*264del (n.*264del) c.651del c.1555del (p.Met519TrpfsTer?) c.1666del (p.Met556TrpfsTer?) c.1720del (p.Met574TrpfsTer?) n.161del c.1609del (p.Met537TrpfsTer?) c.1294del (p.Met432TrpfsTer?) c.1291del (p.Met431TrpfsTer?) n.2057del n.1892del | gnomAD v4 |
| 3 | g.193647136A>C | CA355790504 | OPA1 | c.1826A>C (p.Lys609Thr) c.1661A>C (p.Lys554Thr) c.1772A>C (p.Lys591Thr) c.1715A>C (p.Lys572Thr) c.1600A>C c.1343A>C (p.Lys448Thr) c.*1742A>C (n.*1742A>C) c.1248A>C c.*145A>C (n.*145A>C) c.1630A>C c.1676A>C (p.Lys559Thr) c.*1139A>C (n.*1139A>C) c.*262A>C (n.*262A>C) c.649A>C c.1553A>C (p.Lys518Thr) c.1664A>C (p.Lys555Thr) c.1718A>C (p.Lys573Thr) n.159A>C c.1607A>C (p.Lys536Thr) c.1292A>C (p.Lys431Thr) c.1289A>C (p.Lys430Thr) n.2055A>C n.1890A>C | |
| 3 | g.193647136A>G | CA355790502 | OPA1 | c.1826A>G (p.Lys609Arg) c.1661A>G (p.Lys554Arg) c.1772A>G (p.Lys591Arg) c.1715A>G (p.Lys572Arg) c.1600A>G c.1343A>G (p.Lys448Arg) c.*1742A>G (n.*1742A>G) c.1248A>G c.*145A>G (n.*145A>G) c.1630A>G c.1676A>G (p.Lys559Arg) c.*1139A>G (n.*1139A>G) c.*262A>G (n.*262A>G) c.649A>G c.1553A>G (p.Lys518Arg) c.1664A>G (p.Lys555Arg) c.1718A>G (p.Lys573Arg) n.159A>G c.1607A>G (p.Lys536Arg) c.1292A>G (p.Lys431Arg) c.1289A>G (p.Lys430Arg) n.2055A>G n.1890A>G | |
| 3 | g.193647136A>T | CA355790503 | OPA1 | c.1826A>T (p.Lys609Ile) c.1661A>T (p.Lys554Ile) c.1772A>T (p.Lys591Ile) c.1715A>T (p.Lys572Ile) c.1600A>T c.1343A>T (p.Lys448Ile) c.*1742A>T (n.*1742A>T) c.1248A>T c.*145A>T (n.*145A>T) c.1630A>T c.1676A>T (p.Lys559Ile) c.*1139A>T (n.*1139A>T) c.*262A>T (n.*262A>T) c.649A>T c.1553A>T (p.Lys518Ile) c.1664A>T (p.Lys555Ile) c.1718A>T (p.Lys573Ile) n.159A>T c.1607A>T (p.Lys536Ile) c.1292A>T (p.Lys431Ile) c.1289A>T (p.Lys430Ile) n.2055A>T n.1890A>T | |
| 3 | g.193647137A>C | CA355790505 | OPA1 | c.1827A>C (p.Lys609Asn) c.1662A>C (p.Lys554Asn) c.1773A>C (p.Lys591Asn) c.1716A>C (p.Lys572Asn) c.1601A>C c.1344A>C (p.Lys448Asn) c.*1743A>C (n.*1743A>C) c.1249A>C c.*146A>C (n.*146A>C) c.1631A>C c.1677A>C (p.Lys559Asn) c.*1140A>C (n.*1140A>C) c.*263A>C (n.*263A>C) c.650A>C c.1554A>C (p.Lys518Asn) c.1665A>C (p.Lys555Asn) c.1719A>C (p.Lys573Asn) n.160A>C c.1608A>C (p.Lys536Asn) c.1293A>C (p.Lys431Asn) c.1290A>C (p.Lys430Asn) n.2056A>C n.1891A>C | |
| 3 | g.193647137A>G | CA437437535 | OPA1 | c.1827A>G (p.Lys609=) c.1662A>G (p.Lys554=) c.1773A>G (p.Lys591=) c.1716A>G (p.Lys572=) c.1601A>G c.1344A>G (p.Lys448=) c.*1743A>G (n.*1743A>G) c.1249A>G c.*146A>G (n.*146A>G) c.1631A>G c.1677A>G (p.Lys559=) c.*1140A>G (n.*1140A>G) c.*263A>G (n.*263A>G) c.650A>G c.1554A>G (p.Lys518=) c.1665A>G (p.Lys555=) c.1719A>G (p.Lys573=) n.160A>G c.1608A>G (p.Lys536=) c.1293A>G (p.Lys431=) c.1290A>G (p.Lys430=) n.2056A>G n.1891A>G |