Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.193647085_193647096del | CA2586973487 | OPA1 | c.1775_1786del (p.His592_Thr596delinsPro) c.1610_1621del (p.His537_Thr541delinsPro) c.1721_1732del (p.His574_Thr578delinsPro) c.1664_1675del (p.His555_Thr559delinsPro) c.1549_1560del c.1292_1303del (p.His431_Thr435delinsPro) c.*1691_*1702del (n.*1691_*1702del) c.1197_1208del c.*94_*105del (n.*94_*105del) c.1579_1590del c.1625_1636del (p.His542_Thr546delinsPro) c.*1088_*1099del (n.*1088_*1099del) c.*211_*222del (n.*211_*222del) c.598_609del c.1502_1513del (p.His501_Thr505delinsPro) c.1613_1624del (p.His538_Thr542delinsPro) c.1667_1678del (p.His556_Thr560delinsPro) n.108_119del c.1556_1567del (p.His519_Thr523delinsPro) c.1241_1252del (p.His414_Thr418delinsPro) c.1238_1249del (p.His413_Thr417delinsPro) n.2004_2015del n.1839_1850del | |
3 | g.193647089A>C | CA355790396 | OPA1 | c.1779A>C (p.Gln593His) c.1614A>C (p.Gln538His) c.1725A>C (p.Gln575His) c.1668A>C (p.Gln556His) c.1553A>C c.1296A>C (p.Gln432His) c.*1695A>C (n.*1695A>C) c.1201A>C c.*98A>C (n.*98A>C) c.1583A>C c.1629A>C (p.Gln543His) c.*1092A>C (n.*1092A>C) c.*215A>C (n.*215A>C) c.602A>C c.1506A>C (p.Gln502His) c.1617A>C (p.Gln539His) c.1671A>C (p.Gln557His) n.112A>C c.1560A>C (p.Gln520His) c.1245A>C (p.Gln415His) c.1242A>C (p.Gln414His) n.2008A>C n.1843A>C | |
3 | g.193647089A>G | CA437437506 | OPA1 | c.1779A>G (p.Gln593=) c.1614A>G (p.Gln538=) c.1725A>G (p.Gln575=) c.1668A>G (p.Gln556=) c.1553A>G c.1296A>G (p.Gln432=) c.*1695A>G (n.*1695A>G) c.1201A>G c.*98A>G (n.*98A>G) c.1583A>G c.1629A>G (p.Gln543=) c.*1092A>G (n.*1092A>G) c.*215A>G (n.*215A>G) c.602A>G c.1506A>G (p.Gln502=) c.1617A>G (p.Gln539=) c.1671A>G (p.Gln557=) n.112A>G c.1560A>G (p.Gln520=) c.1245A>G (p.Gln415=) c.1242A>G (p.Gln414=) n.2008A>G n.1843A>G | ClinVar |
3 | g.193647089A>T | CA355790397 | OPA1 | c.1779A>T (p.Gln593His) c.1614A>T (p.Gln538His) c.1725A>T (p.Gln575His) c.1668A>T (p.Gln556His) c.1553A>T c.1296A>T (p.Gln432His) c.*1695A>T (n.*1695A>T) c.1201A>T c.*98A>T (n.*98A>T) c.1583A>T c.1629A>T (p.Gln543His) c.*1092A>T (n.*1092A>T) c.*215A>T (n.*215A>T) c.602A>T c.1506A>T (p.Gln502His) c.1617A>T (p.Gln539His) c.1671A>T (p.Gln557His) n.112A>T c.1560A>T (p.Gln520His) c.1245A>T (p.Gln415His) c.1242A>T (p.Gln414His) n.2008A>T n.1843A>T | |
3 | g.193647090G>A | CA355790398 | OPA1 | c.1780G>A (p.Val594Met) c.1615G>A (p.Val539Met) c.1726G>A (p.Val576Met) c.1669G>A (p.Val557Met) c.1554G>A c.1297G>A (p.Val433Met) c.*1696G>A (n.*1696G>A) c.1202G>A c.*99G>A (n.*99G>A) c.1584G>A c.1630G>A (p.Val544Met) c.*1093G>A (n.*1093G>A) c.*216G>A (n.*216G>A) c.603G>A c.1507G>A (p.Val503Met) c.1618G>A (p.Val540Met) c.1672G>A (p.Val558Met) n.113G>A c.1561G>A (p.Val521Met) c.1246G>A (p.Val416Met) c.1243G>A (p.Val415Met) n.2009G>A n.1844G>A | |
3 | g.193647090G>C | CA355790399 | OPA1 | c.1780G>C (p.Val594Leu) c.1615G>C (p.Val539Leu) c.1726G>C (p.Val576Leu) c.1669G>C (p.Val557Leu) c.1554G>C c.1297G>C (p.Val433Leu) c.*1696G>C (n.*1696G>C) c.1202G>C c.*99G>C (n.*99G>C) c.1584G>C c.1630G>C (p.Val544Leu) c.*1093G>C (n.*1093G>C) c.*216G>C (n.*216G>C) c.603G>C c.1507G>C (p.Val503Leu) c.1618G>C (p.Val540Leu) c.1672G>C (p.Val558Leu) n.113G>C c.1561G>C (p.Val521Leu) c.1246G>C (p.Val416Leu) c.1243G>C (p.Val415Leu) n.2009G>C n.1844G>C | |
3 | g.193647090G>T | CA355790400 | OPA1 | c.1780G>T (p.Val594Leu) c.1615G>T (p.Val539Leu) c.1726G>T (p.Val576Leu) c.1669G>T (p.Val557Leu) c.1554G>T c.1297G>T (p.Val433Leu) c.*1696G>T (n.*1696G>T) c.1202G>T c.*99G>T (n.*99G>T) c.1584G>T c.1630G>T (p.Val544Leu) c.*1093G>T (n.*1093G>T) c.*216G>T (n.*216G>T) c.603G>T c.1507G>T (p.Val503Leu) c.1618G>T (p.Val540Leu) c.1672G>T (p.Val558Leu) n.113G>T c.1561G>T (p.Val521Leu) c.1246G>T (p.Val416Leu) c.1243G>T (p.Val415Leu) n.2009G>T n.1844G>T | |
3 | g.193647091T>A | CA355790402 | OPA1 | c.1781T>A (p.Val594Glu) c.1616T>A (p.Val539Glu) c.1727T>A (p.Val576Glu) c.1670T>A (p.Val557Glu) c.1555T>A c.1298T>A (p.Val433Glu) c.*1697T>A (n.*1697T>A) c.1203T>A c.*100T>A (n.*100T>A) c.1585T>A c.1631T>A (p.Val544Glu) c.*1094T>A (n.*1094T>A) c.*217T>A (n.*217T>A) c.604T>A c.1508T>A (p.Val503Glu) c.1619T>A (p.Val540Glu) c.1673T>A (p.Val558Glu) n.114T>A c.1562T>A (p.Val521Glu) c.1247T>A (p.Val416Glu) c.1244T>A (p.Val415Glu) n.2010T>A n.1845T>A | |
3 | g.193647091T>C | CA355790403 | OPA1 | c.1781T>C (p.Val594Ala) c.1616T>C (p.Val539Ala) c.1727T>C (p.Val576Ala) c.1670T>C (p.Val557Ala) c.1555T>C c.1298T>C (p.Val433Ala) c.*1697T>C (n.*1697T>C) c.1203T>C c.*100T>C (n.*100T>C) c.1585T>C c.1631T>C (p.Val544Ala) c.*1094T>C (n.*1094T>C) c.*217T>C (n.*217T>C) c.604T>C c.1508T>C (p.Val503Ala) c.1619T>C (p.Val540Ala) c.1673T>C (p.Val558Ala) n.114T>C c.1562T>C (p.Val521Ala) c.1247T>C (p.Val416Ala) c.1244T>C (p.Val415Ala) n.2010T>C n.1845T>C | |
3 | g.193647091T>G | CA355790401 | OPA1 | c.1781T>G (p.Val594Gly) c.1616T>G (p.Val539Gly) c.1727T>G (p.Val576Gly) c.1670T>G (p.Val557Gly) c.1555T>G c.1298T>G (p.Val433Gly) c.*1697T>G (n.*1697T>G) c.1203T>G c.*100T>G (n.*100T>G) c.1585T>G c.1631T>G (p.Val544Gly) c.*1094T>G (n.*1094T>G) c.*217T>G (n.*217T>G) c.604T>G c.1508T>G (p.Val503Gly) c.1619T>G (p.Val540Gly) c.1673T>G (p.Val558Gly) n.114T>G c.1562T>G (p.Val521Gly) c.1247T>G (p.Val416Gly) c.1244T>G (p.Val415Gly) n.2010T>G n.1845T>G | |
3 | g.193647092G>A | CA437437507 | OPA1 | c.1782G>A (p.Val594=) c.1617G>A (p.Val539=) c.1728G>A (p.Val576=) c.1671G>A (p.Val557=) c.1556G>A c.1299G>A (p.Val433=) c.*1698G>A (n.*1698G>A) c.1204G>A c.*101G>A (n.*101G>A) c.1586G>A c.1632G>A (p.Val544=) c.*1095G>A (n.*1095G>A) c.*218G>A (n.*218G>A) c.605G>A c.1509G>A (p.Val503=) c.1620G>A (p.Val540=) c.1674G>A (p.Val558=) n.115G>A c.1563G>A (p.Val521=) c.1248G>A (p.Val416=) c.1245G>A (p.Val415=) n.2011G>A n.1846G>A | |
3 | g.193647092G>C | CA437437508 | OPA1 | c.1782G>C (p.Val594=) c.1617G>C (p.Val539=) c.1728G>C (p.Val576=) c.1671G>C (p.Val557=) c.1556G>C c.1299G>C (p.Val433=) c.*1698G>C (n.*1698G>C) c.1204G>C c.*101G>C (n.*101G>C) c.1586G>C c.1632G>C (p.Val544=) c.*1095G>C (n.*1095G>C) c.*218G>C (n.*218G>C) c.605G>C c.1509G>C (p.Val503=) c.1620G>C (p.Val540=) c.1674G>C (p.Val558=) n.115G>C c.1563G>C (p.Val521=) c.1248G>C (p.Val416=) c.1245G>C (p.Val415=) n.2011G>C n.1846G>C | |
3 | g.193647092G>T | CA437437509 | OPA1 | c.1782G>T (p.Val594=) c.1617G>T (p.Val539=) c.1728G>T (p.Val576=) c.1671G>T (p.Val557=) c.1556G>T c.1299G>T (p.Val433=) c.*1698G>T (n.*1698G>T) c.1204G>T c.*101G>T (n.*101G>T) c.1586G>T c.1632G>T (p.Val544=) c.*1095G>T (n.*1095G>T) c.*218G>T (n.*218G>T) c.605G>T c.1509G>T (p.Val503=) c.1620G>T (p.Val540=) c.1674G>T (p.Val558=) n.115G>T c.1563G>T (p.Val521=) c.1248G>T (p.Val416=) c.1245G>T (p.Val415=) n.2011G>T n.1846G>T | |
3 | g.193647093A= | CA1430250615 | OPA1 | c.1783A= (p.Thr595=) c.1618A= (p.Thr540=) c.1729A= (p.Thr577=) c.1672A= (p.Thr558=) c.1557A= c.1300A= (p.Thr434=) c.*1699A= (n.*1699A=) c.1205A= c.*102A= (n.*102A=) c.1587A= c.1633A= (p.Thr545=) c.*1096A= (n.*1096A=) c.*219A= (n.*219A=) c.606A= c.1510A= (p.Thr504=) c.1621A= (p.Thr541=) c.1675A= (p.Thr559=) n.116A= c.1564A= (p.Thr522=) c.1249A= (p.Thr417=) c.1246A= (p.Thr416=) n.2012A= n.1847A= | |
3 | g.193647093A>C | CA355790404 | OPA1 | c.1783A>C (p.Thr595Pro) c.1618A>C (p.Thr540Pro) c.1729A>C (p.Thr577Pro) c.1672A>C (p.Thr558Pro) c.1557A>C c.1300A>C (p.Thr434Pro) c.*1699A>C (n.*1699A>C) c.1205A>C c.*102A>C (n.*102A>C) c.1587A>C c.1633A>C (p.Thr545Pro) c.*1096A>C (n.*1096A>C) c.*219A>C (n.*219A>C) c.606A>C c.1510A>C (p.Thr504Pro) c.1621A>C (p.Thr541Pro) c.1675A>C (p.Thr559Pro) n.116A>C c.1564A>C (p.Thr522Pro) c.1249A>C (p.Thr417Pro) c.1246A>C (p.Thr416Pro) n.2012A>C n.1847A>C | |
3 | g.193647093A>G | CA2759496 | OPA1 | c.1783A>G (p.Thr595Ala) c.1618A>G (p.Thr540Ala) c.1729A>G (p.Thr577Ala) c.1672A>G (p.Thr558Ala) c.1557A>G c.1300A>G (p.Thr434Ala) c.*1699A>G (n.*1699A>G) c.1205A>G c.*102A>G (n.*102A>G) c.1587A>G c.1633A>G (p.Thr545Ala) c.*1096A>G (n.*1096A>G) c.*219A>G (n.*219A>G) c.606A>G c.1510A>G (p.Thr504Ala) c.1621A>G (p.Thr541Ala) c.1675A>G (p.Thr559Ala) n.116A>G c.1564A>G (p.Thr522Ala) c.1249A>G (p.Thr417Ala) c.1246A>G (p.Thr416Ala) n.2012A>G n.1847A>G | dbSNP ExAC gnomAD v2 |
3 | g.193647093A>T | CA355790405 | OPA1 | c.1783A>T (p.Thr595Ser) c.1618A>T (p.Thr540Ser) c.1729A>T (p.Thr577Ser) c.1672A>T (p.Thr558Ser) c.1557A>T c.1300A>T (p.Thr434Ser) c.*1699A>T (n.*1699A>T) c.1205A>T c.*102A>T (n.*102A>T) c.1587A>T c.1633A>T (p.Thr545Ser) c.*1096A>T (n.*1096A>T) c.*219A>T (n.*219A>T) c.606A>T c.1510A>T (p.Thr504Ser) c.1621A>T (p.Thr541Ser) c.1675A>T (p.Thr559Ser) n.116A>T c.1564A>T (p.Thr522Ser) c.1249A>T (p.Thr417Ser) c.1246A>T (p.Thr416Ser) n.2012A>T n.1847A>T | |
3 | g.193647095_193647097del | CA2586973488 | OPA1 | c.1785_1787del (p.Thr596del) c.1620_1622del (p.Thr541del) c.1731_1733del (p.Thr578del) c.1674_1676del (p.Thr559del) c.1559_1561del c.1302_1304del (p.Thr435del) c.*1701_*1703del (n.*1701_*1703del) c.1207_1209del c.*104_*106del (n.*104_*106del) c.1589_1591del c.1635_1637del (p.Thr546del) c.*1098_*1100del (n.*1098_*1100del) c.*221_*223del (n.*221_*223del) c.608_610del c.1512_1514del (p.Thr505del) c.1623_1625del (p.Thr542del) c.1677_1679del (p.Thr560del) n.118_120del c.1566_1568del (p.Thr523del) c.1251_1253del (p.Thr418del) c.1248_1250del (p.Thr417del) n.2014_2016del n.1849_1851del | |
3 | g.193647094C>A | CA355790406 | OPA1 | c.1784C>A (p.Thr595Asn) c.1619C>A (p.Thr540Asn) c.1730C>A (p.Thr577Asn) c.1673C>A (p.Thr558Asn) c.1558C>A c.1301C>A (p.Thr434Asn) c.*1700C>A (n.*1700C>A) c.1206C>A c.*103C>A (n.*103C>A) c.1588C>A c.1634C>A (p.Thr545Asn) c.*1097C>A (n.*1097C>A) c.*220C>A (n.*220C>A) c.607C>A c.1511C>A (p.Thr504Asn) c.1622C>A (p.Thr541Asn) c.1676C>A (p.Thr559Asn) n.117C>A c.1565C>A (p.Thr522Asn) c.1250C>A (p.Thr417Asn) c.1247C>A (p.Thr416Asn) n.2013C>A n.1848C>A | |
3 | g.193647094C>G | CA355790408 | OPA1 | c.1784C>G (p.Thr595Ser) c.1619C>G (p.Thr540Ser) c.1730C>G (p.Thr577Ser) c.1673C>G (p.Thr558Ser) c.1558C>G c.1301C>G (p.Thr434Ser) c.*1700C>G (n.*1700C>G) c.1206C>G c.*103C>G (n.*103C>G) c.1588C>G c.1634C>G (p.Thr545Ser) c.*1097C>G (n.*1097C>G) c.*220C>G (n.*220C>G) c.607C>G c.1511C>G (p.Thr504Ser) c.1622C>G (p.Thr541Ser) c.1676C>G (p.Thr559Ser) n.117C>G c.1565C>G (p.Thr522Ser) c.1250C>G (p.Thr417Ser) c.1247C>G (p.Thr416Ser) n.2013C>G n.1848C>G | |
3 | g.193647094C>T | CA355790407 | OPA1 | c.1784C>T (p.Thr595Ile) c.1619C>T (p.Thr540Ile) c.1730C>T (p.Thr577Ile) c.1673C>T (p.Thr558Ile) c.1558C>T c.1301C>T (p.Thr434Ile) c.*1700C>T (n.*1700C>T) c.1206C>T c.*103C>T (n.*103C>T) c.1588C>T c.1634C>T (p.Thr545Ile) c.*1097C>T (n.*1097C>T) c.*220C>T (n.*220C>T) c.607C>T c.1511C>T (p.Thr504Ile) c.1622C>T (p.Thr541Ile) c.1676C>T (p.Thr559Ile) n.117C>T c.1565C>T (p.Thr522Ile) c.1250C>T (p.Thr417Ile) c.1247C>T (p.Thr416Ile) n.2013C>T n.1848C>T | |
3 | g.193647095T>A | CA437437510 | OPA1 | c.1785T>A (p.Thr595=) c.1620T>A (p.Thr540=) c.1731T>A (p.Thr577=) c.1674T>A (p.Thr558=) c.1559T>A c.1302T>A (p.Thr434=) c.*1701T>A (n.*1701T>A) c.1207T>A c.*104T>A (n.*104T>A) c.1589T>A c.1635T>A (p.Thr545=) c.*1098T>A (n.*1098T>A) c.*221T>A (n.*221T>A) c.608T>A c.1512T>A (p.Thr504=) c.1623T>A (p.Thr541=) c.1677T>A (p.Thr559=) n.118T>A c.1566T>A (p.Thr522=) c.1251T>A (p.Thr417=) c.1248T>A (p.Thr416=) n.2014T>A n.1849T>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.193647095T>C | CA437437512 | OPA1 | c.1785T>C (p.Thr595=) c.1620T>C (p.Thr540=) c.1731T>C (p.Thr577=) c.1674T>C (p.Thr558=) c.1559T>C c.1302T>C (p.Thr434=) c.*1701T>C (n.*1701T>C) c.1207T>C c.*104T>C (n.*104T>C) c.1589T>C c.1635T>C (p.Thr545=) c.*1098T>C (n.*1098T>C) c.*221T>C (n.*221T>C) c.608T>C c.1512T>C (p.Thr504=) c.1623T>C (p.Thr541=) c.1677T>C (p.Thr559=) n.118T>C c.1566T>C (p.Thr522=) c.1251T>C (p.Thr417=) c.1248T>C (p.Thr416=) n.2014T>C n.1849T>C | |
3 | g.193647095T>G | CA437437511 | OPA1 | c.1785T>G (p.Thr595=) c.1620T>G (p.Thr540=) c.1731T>G (p.Thr577=) c.1674T>G (p.Thr558=) c.1559T>G c.1302T>G (p.Thr434=) c.*1701T>G (n.*1701T>G) c.1207T>G c.*104T>G (n.*104T>G) c.1589T>G c.1635T>G (p.Thr545=) c.*1098T>G (n.*1098T>G) c.*221T>G (n.*221T>G) c.608T>G c.1512T>G (p.Thr504=) c.1623T>G (p.Thr541=) c.1677T>G (p.Thr559=) n.118T>G c.1566T>G (p.Thr522=) c.1251T>G (p.Thr417=) c.1248T>G (p.Thr416=) n.2014T>G n.1849T>G | |
3 | g.193647095T= | CA1430250622 | OPA1 | c.1785T= (p.Thr595=) c.1620T= (p.Thr540=) c.1731T= (p.Thr577=) c.1674T= (p.Thr558=) c.1559T= c.1302T= (p.Thr434=) c.*1701T= (n.*1701T=) c.1207T= c.*104T= (n.*104T=) c.1589T= c.1635T= (p.Thr545=) c.*1098T= (n.*1098T=) c.*221T= (n.*221T=) c.608T= c.1512T= (p.Thr504=) c.1623T= (p.Thr541=) c.1677T= (p.Thr559=) n.118T= c.1566T= (p.Thr522=) c.1251T= (p.Thr417=) c.1248T= (p.Thr416=) n.2014T= n.1849T= | |
3 | g.193647096A>C | CA355790409 | OPA1 | c.1786A>C (p.Thr596Pro) c.1621A>C (p.Thr541Pro) c.1732A>C (p.Thr578Pro) c.1675A>C (p.Thr559Pro) c.1560A>C c.1303A>C (p.Thr435Pro) c.*1702A>C (n.*1702A>C) c.1208A>C c.*105A>C (n.*105A>C) c.1590A>C c.1636A>C (p.Thr546Pro) c.*1099A>C (n.*1099A>C) c.*222A>C (n.*222A>C) c.609A>C c.1513A>C (p.Thr505Pro) c.1624A>C (p.Thr542Pro) c.1678A>C (p.Thr560Pro) n.119A>C c.1567A>C (p.Thr523Pro) c.1252A>C (p.Thr418Pro) c.1249A>C (p.Thr417Pro) n.2015A>C n.1850A>C | |
3 | g.193647096A>G | CA355790410 | OPA1 | c.1786A>G (p.Thr596Ala) c.1621A>G (p.Thr541Ala) c.1732A>G (p.Thr578Ala) c.1675A>G (p.Thr559Ala) c.1560A>G c.1303A>G (p.Thr435Ala) c.*1702A>G (n.*1702A>G) c.1208A>G c.*105A>G (n.*105A>G) c.1590A>G c.1636A>G (p.Thr546Ala) c.*1099A>G (n.*1099A>G) c.*222A>G (n.*222A>G) c.609A>G c.1513A>G (p.Thr505Ala) c.1624A>G (p.Thr542Ala) c.1678A>G (p.Thr560Ala) n.119A>G c.1567A>G (p.Thr523Ala) c.1252A>G (p.Thr418Ala) c.1249A>G (p.Thr417Ala) n.2015A>G n.1850A>G | gnomAD v4 |
3 | g.193647096A>T | CA355790411 | OPA1 | c.1786A>T (p.Thr596Ser) c.1621A>T (p.Thr541Ser) c.1732A>T (p.Thr578Ser) c.1675A>T (p.Thr559Ser) c.1560A>T c.1303A>T (p.Thr435Ser) c.*1702A>T (n.*1702A>T) c.1208A>T c.*105A>T (n.*105A>T) c.1590A>T c.1636A>T (p.Thr546Ser) c.*1099A>T (n.*1099A>T) c.*222A>T (n.*222A>T) c.609A>T c.1513A>T (p.Thr505Ser) c.1624A>T (p.Thr542Ser) c.1678A>T (p.Thr560Ser) n.119A>T c.1567A>T (p.Thr523Ser) c.1252A>T (p.Thr418Ser) c.1249A>T (p.Thr417Ser) n.2015A>T n.1850A>T | |
3 | g.193647097C>A | CA355790412 | OPA1 | c.1787C>A (p.Thr596Lys) c.1622C>A (p.Thr541Lys) c.1733C>A (p.Thr578Lys) c.1676C>A (p.Thr559Lys) c.1561C>A c.1304C>A (p.Thr435Lys) c.*1703C>A (n.*1703C>A) c.1209C>A c.*106C>A (n.*106C>A) c.1591C>A c.1637C>A (p.Thr546Lys) c.*1100C>A (n.*1100C>A) c.*223C>A (n.*223C>A) c.610C>A c.1514C>A (p.Thr505Lys) c.1625C>A (p.Thr542Lys) c.1679C>A (p.Thr560Lys) n.120C>A c.1568C>A (p.Thr523Lys) c.1253C>A (p.Thr418Lys) c.1250C>A (p.Thr417Lys) n.2016C>A n.1851C>A | |
3 | g.193647097C= | CA1430250630 | OPA1 | c.1787C= (p.Thr596=) c.1622C= (p.Thr541=) c.1733C= (p.Thr578=) c.1676C= (p.Thr559=) c.1561C= c.1304C= (p.Thr435=) c.*1703C= (n.*1703C=) c.1209C= c.*106C= (n.*106C=) c.1591C= c.1637C= (p.Thr546=) c.*1100C= (n.*1100C=) c.*223C= (n.*223C=) c.610C= c.1514C= (p.Thr505=) c.1625C= (p.Thr542=) c.1679C= (p.Thr560=) n.120C= c.1568C= (p.Thr523=) c.1253C= (p.Thr418=) c.1250C= (p.Thr417=) n.2016C= n.1851C= | |
3 | g.193647097C>G | CA355790413 | OPA1 | c.1787C>G (p.Thr596Arg) c.1622C>G (p.Thr541Arg) c.1733C>G (p.Thr578Arg) c.1676C>G (p.Thr559Arg) c.1561C>G c.1304C>G (p.Thr435Arg) c.*1703C>G (n.*1703C>G) c.1209C>G c.*106C>G (n.*106C>G) c.1591C>G c.1637C>G (p.Thr546Arg) c.*1100C>G (n.*1100C>G) c.*223C>G (n.*223C>G) c.610C>G c.1514C>G (p.Thr505Arg) c.1625C>G (p.Thr542Arg) c.1679C>G (p.Thr560Arg) n.120C>G c.1568C>G (p.Thr523Arg) c.1253C>G (p.Thr418Arg) c.1250C>G (p.Thr417Arg) n.2016C>G n.1851C>G | |
3 | g.193647097C>T | CA2759497 | OPA1 | c.1787C>T (p.Thr596Ile) c.1622C>T (p.Thr541Ile) c.1733C>T (p.Thr578Ile) c.1676C>T (p.Thr559Ile) c.1561C>T c.1304C>T (p.Thr435Ile) c.*1703C>T (n.*1703C>T) c.1209C>T c.*106C>T (n.*106C>T) c.1591C>T c.1637C>T (p.Thr546Ile) c.*1100C>T (n.*1100C>T) c.*223C>T (n.*223C>T) c.610C>T c.1514C>T (p.Thr505Ile) c.1625C>T (p.Thr542Ile) c.1679C>T (p.Thr560Ile) n.120C>T c.1568C>T (p.Thr523Ile) c.1253C>T (p.Thr418Ile) c.1250C>T (p.Thr417Ile) n.2016C>T n.1851C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.193647098A>C | CA437437513 | OPA1 | c.1788A>C (p.Thr596=) c.1623A>C (p.Thr541=) c.1734A>C (p.Thr578=) c.1677A>C (p.Thr559=) c.1562A>C c.1305A>C (p.Thr435=) c.*1704A>C (n.*1704A>C) c.1210A>C c.*107A>C (n.*107A>C) c.1592A>C c.1638A>C (p.Thr546=) c.*1101A>C (n.*1101A>C) c.*224A>C (n.*224A>C) c.611A>C c.1515A>C (p.Thr505=) c.1626A>C (p.Thr542=) c.1680A>C (p.Thr560=) n.121A>C c.1569A>C (p.Thr523=) c.1254A>C (p.Thr418=) c.1251A>C (p.Thr417=) n.2017A>C n.1852A>C | |
3 | g.193647098A>G | CA437437514 | OPA1 | c.1788A>G (p.Thr596=) c.1623A>G (p.Thr541=) c.1734A>G (p.Thr578=) c.1677A>G (p.Thr559=) c.1562A>G c.1305A>G (p.Thr435=) c.*1704A>G (n.*1704A>G) c.1210A>G c.*107A>G (n.*107A>G) c.1592A>G c.1638A>G (p.Thr546=) c.*1101A>G (n.*1101A>G) c.*224A>G (n.*224A>G) c.611A>G c.1515A>G (p.Thr505=) c.1626A>G (p.Thr542=) c.1680A>G (p.Thr560=) n.121A>G c.1569A>G (p.Thr523=) c.1254A>G (p.Thr418=) c.1251A>G (p.Thr417=) n.2017A>G n.1852A>G | |
3 | g.193647098A>T | CA437437515 | OPA1 | c.1788A>T (p.Thr596=) c.1623A>T (p.Thr541=) c.1734A>T (p.Thr578=) c.1677A>T (p.Thr559=) c.1562A>T c.1305A>T (p.Thr435=) c.*1704A>T (n.*1704A>T) c.1210A>T c.*107A>T (n.*107A>T) c.1592A>T c.1638A>T (p.Thr546=) c.*1101A>T (n.*1101A>T) c.*224A>T (n.*224A>T) c.611A>T c.1515A>T (p.Thr505=) c.1626A>T (p.Thr542=) c.1680A>T (p.Thr560=) n.121A>T c.1569A>T (p.Thr523=) c.1254A>T (p.Thr418=) c.1251A>T (p.Thr417=) n.2017A>T n.1852A>T | gnomAD v4 |
3 | g.193647099A= | CA1430250636 | OPA1 | c.1789A= (p.Arg597=) c.1624A= (p.Arg542=) c.1735A= (p.Arg579=) c.1678A= (p.Arg560=) c.1563A= c.1306A= (p.Arg436=) c.*1705A= (n.*1705A=) c.1211A= c.*108A= (n.*108A=) c.1593A= c.1639A= (p.Arg547=) c.*1102A= (n.*1102A=) c.*225A= (n.*225A=) c.612A= c.1516A= (p.Arg506=) c.1627A= (p.Arg543=) c.1681A= (p.Arg561=) n.122A= c.1570A= (p.Arg524=) c.1255A= (p.Arg419=) c.1252A= (p.Arg418=) n.2018A= n.1853A= | |
3 | g.193647099A>C | CA437437516 | OPA1 | c.1789A>C (p.Arg597=) c.1624A>C (p.Arg542=) c.1735A>C (p.Arg579=) c.1678A>C (p.Arg560=) c.1563A>C c.1306A>C (p.Arg436=) c.*1705A>C (n.*1705A>C) c.1211A>C c.*108A>C (n.*108A>C) c.1593A>C c.1639A>C (p.Arg547=) c.*1102A>C (n.*1102A>C) c.*225A>C (n.*225A>C) c.612A>C c.1516A>C (p.Arg506=) c.1627A>C (p.Arg543=) c.1681A>C (p.Arg561=) n.122A>C c.1570A>C (p.Arg524=) c.1255A>C (p.Arg419=) c.1252A>C (p.Arg418=) n.2018A>C n.1853A>C | |
3 | g.193647099A>G | CA90536210 | OPA1 | c.1789A>G (p.Arg597Gly) c.1624A>G (p.Arg542Gly) c.1735A>G (p.Arg579Gly) c.1678A>G (p.Arg560Gly) c.1563A>G c.1306A>G (p.Arg436Gly) c.*1705A>G (n.*1705A>G) c.1211A>G c.*108A>G (n.*108A>G) c.1593A>G c.1639A>G (p.Arg547Gly) c.*1102A>G (n.*1102A>G) c.*225A>G (n.*225A>G) c.612A>G c.1516A>G (p.Arg506Gly) c.1627A>G (p.Arg543Gly) c.1681A>G (p.Arg561Gly) n.122A>G c.1570A>G (p.Arg524Gly) c.1255A>G (p.Arg419Gly) c.1252A>G (p.Arg418Gly) n.2018A>G n.1853A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.193647099A>T | CA355790416 | OPA1 | c.1789A>T (p.Arg597Ter) c.1624A>T (p.Arg542Ter) c.1735A>T (p.Arg579Ter) c.1678A>T (p.Arg560Ter) c.1563A>T c.1306A>T (p.Arg436Ter) c.*1705A>T (n.*1705A>T) c.1211A>T c.*108A>T (n.*108A>T) c.1593A>T c.1639A>T (p.Arg547Ter) c.*1102A>T (n.*1102A>T) c.*225A>T (n.*225A>T) c.612A>T c.1516A>T (p.Arg506Ter) c.1627A>T (p.Arg543Ter) c.1681A>T (p.Arg561Ter) n.122A>T c.1570A>T (p.Arg524Ter) c.1255A>T (p.Arg419Ter) c.1252A>T (p.Arg418Ter) n.2018A>T n.1853A>T | |
3 | g.193647100G>A | CA355790417 | OPA1 | c.1790G>A (p.Arg597Lys) c.1625G>A (p.Arg542Lys) c.1736G>A (p.Arg579Lys) c.1679G>A (p.Arg560Lys) c.1564G>A c.1307G>A (p.Arg436Lys) c.*1706G>A (n.*1706G>A) c.1212G>A c.*109G>A (n.*109G>A) c.1594G>A c.1640G>A (p.Arg547Lys) c.*1103G>A (n.*1103G>A) c.*226G>A (n.*226G>A) c.613G>A c.1517G>A (p.Arg506Lys) c.1628G>A (p.Arg543Lys) c.1682G>A (p.Arg561Lys) n.123G>A c.1571G>A (p.Arg524Lys) c.1256G>A (p.Arg419Lys) c.1253G>A (p.Arg418Lys) n.2019G>A n.1854G>A | |
3 | g.193647100G>C | CA355790418 | OPA1 | c.1790G>C (p.Arg597Thr) c.1625G>C (p.Arg542Thr) c.1736G>C (p.Arg579Thr) c.1679G>C (p.Arg560Thr) c.1564G>C c.1307G>C (p.Arg436Thr) c.*1706G>C (n.*1706G>C) c.1212G>C c.*109G>C (n.*109G>C) c.1594G>C c.1640G>C (p.Arg547Thr) c.*1103G>C (n.*1103G>C) c.*226G>C (n.*226G>C) c.613G>C c.1517G>C (p.Arg506Thr) c.1628G>C (p.Arg543Thr) c.1682G>C (p.Arg561Thr) n.123G>C c.1571G>C (p.Arg524Thr) c.1256G>C (p.Arg419Thr) c.1253G>C (p.Arg418Thr) n.2019G>C n.1854G>C | |
3 | g.193647100G>T | CA355790419 | OPA1 | c.1790G>T (p.Arg597Ile) c.1625G>T (p.Arg542Ile) c.1736G>T (p.Arg579Ile) c.1679G>T (p.Arg560Ile) c.1564G>T c.1307G>T (p.Arg436Ile) c.*1706G>T (n.*1706G>T) c.1212G>T c.*109G>T (n.*109G>T) c.1594G>T c.1640G>T (p.Arg547Ile) c.*1103G>T (n.*1103G>T) c.*226G>T (n.*226G>T) c.613G>T c.1517G>T (p.Arg506Ile) c.1628G>T (p.Arg543Ile) c.1682G>T (p.Arg561Ile) n.123G>T c.1571G>T (p.Arg524Ile) c.1256G>T (p.Arg419Ile) c.1253G>T (p.Arg418Ile) n.2019G>T n.1854G>T | |
3 | g.193647101A>C | CA355790420 | OPA1 | c.1791A>C (p.Arg597Ser) c.1626A>C (p.Arg542Ser) c.1737A>C (p.Arg579Ser) c.1680A>C (p.Arg560Ser) c.1565A>C c.1308A>C (p.Arg436Ser) c.*1707A>C (n.*1707A>C) c.1213A>C c.*110A>C (n.*110A>C) c.1595A>C c.1641A>C (p.Arg547Ser) c.*1104A>C (n.*1104A>C) c.*227A>C (n.*227A>C) c.614A>C c.1518A>C (p.Arg506Ser) c.1629A>C (p.Arg543Ser) c.1683A>C (p.Arg561Ser) n.124A>C c.1572A>C (p.Arg524Ser) c.1257A>C (p.Arg419Ser) c.1254A>C (p.Arg418Ser) n.2020A>C n.1855A>C | |
3 | g.193647101A>G | CA437437517 | OPA1 | c.1791A>G (p.Arg597=) c.1626A>G (p.Arg542=) c.1737A>G (p.Arg579=) c.1680A>G (p.Arg560=) c.1565A>G c.1308A>G (p.Arg436=) c.*1707A>G (n.*1707A>G) c.1213A>G c.*110A>G (n.*110A>G) c.1595A>G c.1641A>G (p.Arg547=) c.*1104A>G (n.*1104A>G) c.*227A>G (n.*227A>G) c.614A>G c.1518A>G (p.Arg506=) c.1629A>G (p.Arg543=) c.1683A>G (p.Arg561=) n.124A>G c.1572A>G (p.Arg524=) c.1257A>G (p.Arg419=) c.1254A>G (p.Arg418=) n.2020A>G n.1855A>G | |
3 | g.193647101A>T | CA355790421 | OPA1 | c.1791A>T (p.Arg597Ser) c.1626A>T (p.Arg542Ser) c.1737A>T (p.Arg579Ser) c.1680A>T (p.Arg560Ser) c.1565A>T c.1308A>T (p.Arg436Ser) c.*1707A>T (n.*1707A>T) c.1213A>T c.*110A>T (n.*110A>T) c.1595A>T c.1641A>T (p.Arg547Ser) c.*1104A>T (n.*1104A>T) c.*227A>T (n.*227A>T) c.614A>T c.1518A>T (p.Arg506Ser) c.1629A>T (p.Arg543Ser) c.1683A>T (p.Arg561Ser) n.124A>T c.1572A>T (p.Arg524Ser) c.1257A>T (p.Arg419Ser) c.1254A>T (p.Arg418Ser) n.2020A>T n.1855A>T | |
3 | g.193647102A>C | CA355790422 | OPA1 | c.1792A>C (p.Asn598His) c.1627A>C (p.Asn543His) c.1738A>C (p.Asn580His) c.1681A>C (p.Asn561His) c.1566A>C c.1309A>C (p.Asn437His) c.*1708A>C (n.*1708A>C) c.1214A>C c.*111A>C (n.*111A>C) c.1596A>C c.1642A>C (p.Asn548His) c.*1105A>C (n.*1105A>C) c.*228A>C (n.*228A>C) c.615A>C c.1519A>C (p.Asn507His) c.1630A>C (p.Asn544His) c.1684A>C (p.Asn562His) n.125A>C c.1573A>C (p.Asn525His) c.1258A>C (p.Asn420His) c.1255A>C (p.Asn419His) n.2021A>C n.1856A>C | |
3 | g.193647102A>G | CA355790424 | OPA1 | c.1792A>G (p.Asn598Asp) c.1627A>G (p.Asn543Asp) c.1738A>G (p.Asn580Asp) c.1681A>G (p.Asn561Asp) c.1566A>G c.1309A>G (p.Asn437Asp) c.*1708A>G (n.*1708A>G) c.1214A>G c.*111A>G (n.*111A>G) c.1596A>G c.1642A>G (p.Asn548Asp) c.*1105A>G (n.*1105A>G) c.*228A>G (n.*228A>G) c.615A>G c.1519A>G (p.Asn507Asp) c.1630A>G (p.Asn544Asp) c.1684A>G (p.Asn562Asp) n.125A>G c.1573A>G (p.Asn525Asp) c.1258A>G (p.Asn420Asp) c.1255A>G (p.Asn419Asp) n.2021A>G n.1856A>G | |
3 | g.193647102A>T | CA355790423 | OPA1 | c.1792A>T (p.Asn598Tyr) c.1627A>T (p.Asn543Tyr) c.1738A>T (p.Asn580Tyr) c.1681A>T (p.Asn561Tyr) c.1566A>T c.1309A>T (p.Asn437Tyr) c.*1708A>T (n.*1708A>T) c.1214A>T c.*111A>T (n.*111A>T) c.1596A>T c.1642A>T (p.Asn548Tyr) c.*1105A>T (n.*1105A>T) c.*228A>T (n.*228A>T) c.615A>T c.1519A>T (p.Asn507Tyr) c.1630A>T (p.Asn544Tyr) c.1684A>T (p.Asn562Tyr) n.125A>T c.1573A>T (p.Asn525Tyr) c.1258A>T (p.Asn420Tyr) c.1255A>T (p.Asn419Tyr) n.2021A>T n.1856A>T | |
3 | g.193647103A>C | CA355790425 | OPA1 | c.1793A>C (p.Asn598Thr) c.1628A>C (p.Asn543Thr) c.1739A>C (p.Asn580Thr) c.1682A>C (p.Asn561Thr) c.1567A>C c.1310A>C (p.Asn437Thr) c.*1709A>C (n.*1709A>C) c.1215A>C c.*112A>C (n.*112A>C) c.1597A>C c.1643A>C (p.Asn548Thr) c.*1106A>C (n.*1106A>C) c.*229A>C (n.*229A>C) c.616A>C c.1520A>C (p.Asn507Thr) c.1631A>C (p.Asn544Thr) c.1685A>C (p.Asn562Thr) n.126A>C c.1574A>C (p.Asn525Thr) c.1259A>C (p.Asn420Thr) c.1256A>C (p.Asn419Thr) n.2022A>C n.1857A>C | |
3 | g.193647103A>G | CA355790426 | OPA1 | c.1793A>G (p.Asn598Ser) c.1628A>G (p.Asn543Ser) c.1739A>G (p.Asn580Ser) c.1682A>G (p.Asn561Ser) c.1567A>G c.1310A>G (p.Asn437Ser) c.*1709A>G (n.*1709A>G) c.1215A>G c.*112A>G (n.*112A>G) c.1597A>G c.1643A>G (p.Asn548Ser) c.*1106A>G (n.*1106A>G) c.*229A>G (n.*229A>G) c.616A>G c.1520A>G (p.Asn507Ser) c.1631A>G (p.Asn544Ser) c.1685A>G (p.Asn562Ser) n.126A>G c.1574A>G (p.Asn525Ser) c.1259A>G (p.Asn420Ser) c.1256A>G (p.Asn419Ser) n.2022A>G n.1857A>G | |
3 | g.193647103A>T | CA355790427 | OPA1 | c.1793A>T (p.Asn598Ile) c.1628A>T (p.Asn543Ile) c.1739A>T (p.Asn580Ile) c.1682A>T (p.Asn561Ile) c.1567A>T c.1310A>T (p.Asn437Ile) c.*1709A>T (n.*1709A>T) c.1215A>T c.*112A>T (n.*112A>T) c.1597A>T c.1643A>T (p.Asn548Ile) c.*1106A>T (n.*1106A>T) c.*229A>T (n.*229A>T) c.616A>T c.1520A>T (p.Asn507Ile) c.1631A>T (p.Asn544Ile) c.1685A>T (p.Asn562Ile) n.126A>T c.1574A>T (p.Asn525Ile) c.1259A>T (p.Asn420Ile) c.1256A>T (p.Asn419Ile) n.2022A>T n.1857A>T | |
3 | g.193647104T>A | CA355790428 | OPA1 | c.1794T>A (p.Asn598Lys) c.1629T>A (p.Asn543Lys) c.1740T>A (p.Asn580Lys) c.1683T>A (p.Asn561Lys) c.1568T>A c.1311T>A (p.Asn437Lys) c.*1710T>A (n.*1710T>A) c.1216T>A c.*113T>A (n.*113T>A) c.1598T>A c.1644T>A (p.Asn548Lys) c.*1107T>A (n.*1107T>A) c.*230T>A (n.*230T>A) c.617T>A c.1521T>A (p.Asn507Lys) c.1632T>A (p.Asn544Lys) c.1686T>A (p.Asn562Lys) n.127T>A c.1575T>A (p.Asn525Lys) c.1260T>A (p.Asn420Lys) c.1257T>A (p.Asn419Lys) n.2023T>A n.1858T>A | |
3 | g.193647104T>C | CA437437518 | OPA1 | c.1794T>C (p.Asn598=) c.1629T>C (p.Asn543=) c.1740T>C (p.Asn580=) c.1683T>C (p.Asn561=) c.1568T>C c.1311T>C (p.Asn437=) c.*1710T>C (n.*1710T>C) c.1216T>C c.*113T>C (n.*113T>C) c.1598T>C c.1644T>C (p.Asn548=) c.*1107T>C (n.*1107T>C) c.*230T>C (n.*230T>C) c.617T>C c.1521T>C (p.Asn507=) c.1632T>C (p.Asn544=) c.1686T>C (p.Asn562=) n.127T>C c.1575T>C (p.Asn525=) c.1260T>C (p.Asn420=) c.1257T>C (p.Asn419=) n.2023T>C n.1858T>C | |
3 | g.193647104T>G | CA355790429 | OPA1 | c.1794T>G (p.Asn598Lys) c.1629T>G (p.Asn543Lys) c.1740T>G (p.Asn580Lys) c.1683T>G (p.Asn561Lys) c.1568T>G c.1311T>G (p.Asn437Lys) c.*1710T>G (n.*1710T>G) c.1216T>G c.*113T>G (n.*113T>G) c.1598T>G c.1644T>G (p.Asn548Lys) c.*1107T>G (n.*1107T>G) c.*230T>G (n.*230T>G) c.617T>G c.1521T>G (p.Asn507Lys) c.1632T>G (p.Asn544Lys) c.1686T>G (p.Asn562Lys) n.127T>G c.1575T>G (p.Asn525Lys) c.1260T>G (p.Asn420Lys) c.1257T>G (p.Asn419Lys) n.2023T>G n.1858T>G | |
3 | g.193647105T>A | CA355790430 | OPA1 | c.1795T>A (p.Leu599Ile) c.1630T>A (p.Leu544Ile) c.1741T>A (p.Leu581Ile) c.1684T>A (p.Leu562Ile) c.1569T>A c.1312T>A (p.Leu438Ile) c.*1711T>A (n.*1711T>A) c.1217T>A c.*114T>A (n.*114T>A) c.1599T>A c.1645T>A (p.Leu549Ile) c.*1108T>A (n.*1108T>A) c.*231T>A (n.*231T>A) c.618T>A c.1522T>A (p.Leu508Ile) c.1633T>A (p.Leu545Ile) c.1687T>A (p.Leu563Ile) n.128T>A c.1576T>A (p.Leu526Ile) c.1261T>A (p.Leu421Ile) c.1258T>A (p.Leu420Ile) n.2024T>A n.1859T>A | |
3 | g.193647105T>C | CA437437519 | OPA1 | c.1795T>C (p.Leu599=) c.1630T>C (p.Leu544=) c.1741T>C (p.Leu581=) c.1684T>C (p.Leu562=) c.1569T>C c.1312T>C (p.Leu438=) c.*1711T>C (n.*1711T>C) c.1217T>C c.*114T>C (n.*114T>C) c.1599T>C c.1645T>C (p.Leu549=) c.*1108T>C (n.*1108T>C) c.*231T>C (n.*231T>C) c.618T>C c.1522T>C (p.Leu508=) c.1633T>C (p.Leu545=) c.1687T>C (p.Leu563=) n.128T>C c.1576T>C (p.Leu526=) c.1261T>C (p.Leu421=) c.1258T>C (p.Leu420=) n.2024T>C n.1859T>C | |
3 | g.193647105T>G | CA355790431 | OPA1 | c.1795T>G (p.Leu599Val) c.1630T>G (p.Leu544Val) c.1741T>G (p.Leu581Val) c.1684T>G (p.Leu562Val) c.1569T>G c.1312T>G (p.Leu438Val) c.*1711T>G (n.*1711T>G) c.1217T>G c.*114T>G (n.*114T>G) c.1599T>G c.1645T>G (p.Leu549Val) c.*1108T>G (n.*1108T>G) c.*231T>G (n.*231T>G) c.618T>G c.1522T>G (p.Leu508Val) c.1633T>G (p.Leu545Val) c.1687T>G (p.Leu563Val) n.128T>G c.1576T>G (p.Leu526Val) c.1261T>G (p.Leu421Val) c.1258T>G (p.Leu420Val) n.2024T>G n.1859T>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.193647105T= | CA1430250641 | OPA1 | c.1795T= (p.Leu599=) c.1630T= (p.Leu544=) c.1741T= (p.Leu581=) c.1684T= (p.Leu562=) c.1569T= c.1312T= (p.Leu438=) c.*1711T= (n.*1711T=) c.1217T= c.*114T= (n.*114T=) c.1599T= c.1645T= (p.Leu549=) c.*1108T= (n.*1108T=) c.*231T= (n.*231T=) c.618T= c.1522T= (p.Leu508=) c.1633T= (p.Leu545=) c.1687T= (p.Leu563=) n.128T= c.1576T= (p.Leu526=) c.1261T= (p.Leu421=) c.1258T= (p.Leu420=) n.2024T= n.1859T= | |
3 | g.193647107_193647113del | CA2586973324 | OPA1 | c.1797_1803del (p.Ser600GlnfsTer?) c.1632_1638del (p.Ser545GlnfsTer?) c.1743_1749del (p.Ser582GlnfsTer?) c.1686_1692del (p.Ser563GlnfsTer?) c.1571_1577del c.1314_1320del (p.Ser439GlnfsTer?) c.*1713_*1719del (n.*1713_*1719del) c.1219_1225del c.*116_*122del (n.*116_*122del) c.1601_1607del c.1647_1653del (p.Ser550GlnfsTer?) c.*1110_*1116del (n.*1110_*1116del) c.*233_*239del (n.*233_*239del) c.620_626del c.1524_1530del (p.Ser509GlnfsTer?) c.1635_1641del (p.Ser546GlnfsTer?) c.1689_1695del (p.Ser564GlnfsTer?) n.130_136del c.1578_1584del (p.Ser527GlnfsTer?) c.1263_1269del (p.Ser422GlnfsTer?) c.1260_1266del (p.Ser421GlnfsTer?) n.2026_2032del n.1861_1867del | |
3 | g.193647106T>A | CA355790432 | OPA1 | c.1796T>A (p.Leu599Ter) c.1631T>A (p.Leu544Ter) c.1742T>A (p.Leu581Ter) c.1685T>A (p.Leu562Ter) c.1570T>A c.1313T>A (p.Leu438Ter) c.*1712T>A (n.*1712T>A) c.1218T>A c.*115T>A (n.*115T>A) c.1600T>A c.1646T>A (p.Leu549Ter) c.*1109T>A (n.*1109T>A) c.*232T>A (n.*232T>A) c.619T>A c.1523T>A (p.Leu508Ter) c.1634T>A (p.Leu545Ter) c.1688T>A (p.Leu563Ter) n.129T>A c.1577T>A (p.Leu526Ter) c.1262T>A (p.Leu421Ter) c.1259T>A (p.Leu420Ter) n.2025T>A n.1860T>A | |
3 | g.193647106T>C | CA355790433 | OPA1 | c.1796T>C (p.Leu599Ser) c.1631T>C (p.Leu544Ser) c.1742T>C (p.Leu581Ser) c.1685T>C (p.Leu562Ser) c.1570T>C c.1313T>C (p.Leu438Ser) c.*1712T>C (n.*1712T>C) c.1218T>C c.*115T>C (n.*115T>C) c.1600T>C c.1646T>C (p.Leu549Ser) c.*1109T>C (n.*1109T>C) c.*232T>C (n.*232T>C) c.619T>C c.1523T>C (p.Leu508Ser) c.1634T>C (p.Leu545Ser) c.1688T>C (p.Leu563Ser) n.129T>C c.1577T>C (p.Leu526Ser) c.1262T>C (p.Leu421Ser) c.1259T>C (p.Leu420Ser) n.2025T>C n.1860T>C | |
3 | g.193647106T>G | CA355790434 | OPA1 | c.1796T>G (p.Leu599Ter) c.1631T>G (p.Leu544Ter) c.1742T>G (p.Leu581Ter) c.1685T>G (p.Leu562Ter) c.1570T>G c.1313T>G (p.Leu438Ter) c.*1712T>G (n.*1712T>G) c.1218T>G c.*115T>G (n.*115T>G) c.1600T>G c.1646T>G (p.Leu549Ter) c.*1109T>G (n.*1109T>G) c.*232T>G (n.*232T>G) c.619T>G c.1523T>G (p.Leu508Ter) c.1634T>G (p.Leu545Ter) c.1688T>G (p.Leu563Ter) n.129T>G c.1577T>G (p.Leu526Ter) c.1262T>G (p.Leu421Ter) c.1259T>G (p.Leu420Ter) n.2025T>G n.1860T>G | |
3 | g.193647107A>C | CA355790435 | OPA1 | c.1797A>C (p.Leu599Phe) c.1632A>C (p.Leu544Phe) c.1743A>C (p.Leu581Phe) c.1686A>C (p.Leu562Phe) c.1571A>C c.1314A>C (p.Leu438Phe) c.*1713A>C (n.*1713A>C) c.1219A>C c.*116A>C (n.*116A>C) c.1601A>C c.1647A>C (p.Leu549Phe) c.*1110A>C (n.*1110A>C) c.*233A>C (n.*233A>C) c.620A>C c.1524A>C (p.Leu508Phe) c.1635A>C (p.Leu545Phe) c.1689A>C (p.Leu563Phe) n.130A>C c.1578A>C (p.Leu526Phe) c.1263A>C (p.Leu421Phe) c.1260A>C (p.Leu420Phe) n.2026A>C n.1861A>C | |
3 | g.193647107A>G | CA437437520 | OPA1 | c.1797A>G (p.Leu599=) c.1632A>G (p.Leu544=) c.1743A>G (p.Leu581=) c.1686A>G (p.Leu562=) c.1571A>G c.1314A>G (p.Leu438=) c.*1713A>G (n.*1713A>G) c.1219A>G c.*116A>G (n.*116A>G) c.1601A>G c.1647A>G (p.Leu549=) c.*1110A>G (n.*1110A>G) c.*233A>G (n.*233A>G) c.620A>G c.1524A>G (p.Leu508=) c.1635A>G (p.Leu545=) c.1689A>G (p.Leu563=) n.130A>G c.1578A>G (p.Leu526=) c.1263A>G (p.Leu421=) c.1260A>G (p.Leu420=) n.2026A>G n.1861A>G | |
3 | g.193647107A>T | CA355790436 | OPA1 | c.1797A>T (p.Leu599Phe) c.1632A>T (p.Leu544Phe) c.1743A>T (p.Leu581Phe) c.1686A>T (p.Leu562Phe) c.1571A>T c.1314A>T (p.Leu438Phe) c.*1713A>T (n.*1713A>T) c.1219A>T c.*116A>T (n.*116A>T) c.1601A>T c.1647A>T (p.Leu549Phe) c.*1110A>T (n.*1110A>T) c.*233A>T (n.*233A>T) c.620A>T c.1524A>T (p.Leu508Phe) c.1635A>T (p.Leu545Phe) c.1689A>T (p.Leu563Phe) n.130A>T c.1578A>T (p.Leu526Phe) c.1263A>T (p.Leu421Phe) c.1260A>T (p.Leu420Phe) n.2026A>T n.1861A>T | |
3 | g.193647108A>C | CA355790437 | OPA1 | c.1798A>C (p.Ser600Arg) c.1633A>C (p.Ser545Arg) c.1744A>C (p.Ser582Arg) c.1687A>C (p.Ser563Arg) c.1572A>C c.1315A>C (p.Ser439Arg) c.*1714A>C (n.*1714A>C) c.1220A>C c.*117A>C (n.*117A>C) c.1602A>C c.1648A>C (p.Ser550Arg) c.*1111A>C (n.*1111A>C) c.*234A>C (n.*234A>C) c.621A>C c.1525A>C (p.Ser509Arg) c.1636A>C (p.Ser546Arg) c.1690A>C (p.Ser564Arg) n.131A>C c.1579A>C (p.Ser527Arg) c.1264A>C (p.Ser422Arg) c.1261A>C (p.Ser421Arg) n.2027A>C n.1862A>C | |
3 | g.193647108A>G | CA355790438 | OPA1 | c.1798A>G (p.Ser600Gly) c.1633A>G (p.Ser545Gly) c.1744A>G (p.Ser582Gly) c.1687A>G (p.Ser563Gly) c.1572A>G c.1315A>G (p.Ser439Gly) c.*1714A>G (n.*1714A>G) c.1220A>G c.*117A>G (n.*117A>G) c.1602A>G c.1648A>G (p.Ser550Gly) c.*1111A>G (n.*1111A>G) c.*234A>G (n.*234A>G) c.621A>G c.1525A>G (p.Ser509Gly) c.1636A>G (p.Ser546Gly) c.1690A>G (p.Ser564Gly) n.131A>G c.1579A>G (p.Ser527Gly) c.1264A>G (p.Ser422Gly) c.1261A>G (p.Ser421Gly) n.2027A>G n.1862A>G | |
3 | g.193647108A>T | CA355790439 | OPA1 | c.1798A>T (p.Ser600Cys) c.1633A>T (p.Ser545Cys) c.1744A>T (p.Ser582Cys) c.1687A>T (p.Ser563Cys) c.1572A>T c.1315A>T (p.Ser439Cys) c.*1714A>T (n.*1714A>T) c.1220A>T c.*117A>T (n.*117A>T) c.1602A>T c.1648A>T (p.Ser550Cys) c.*1111A>T (n.*1111A>T) c.*234A>T (n.*234A>T) c.621A>T c.1525A>T (p.Ser509Cys) c.1636A>T (p.Ser546Cys) c.1690A>T (p.Ser564Cys) n.131A>T c.1579A>T (p.Ser527Cys) c.1264A>T (p.Ser422Cys) c.1261A>T (p.Ser421Cys) n.2027A>T n.1862A>T | |
3 | g.193647109G>A | CA355790440 | OPA1 | c.1799G>A (p.Ser600Asn) c.1634G>A (p.Ser545Asn) c.1745G>A (p.Ser582Asn) c.1688G>A (p.Ser563Asn) c.1573G>A c.1316G>A (p.Ser439Asn) c.*1715G>A (n.*1715G>A) c.1221G>A c.*118G>A (n.*118G>A) c.1603G>A c.1649G>A (p.Ser550Asn) c.*1112G>A (n.*1112G>A) c.*235G>A (n.*235G>A) c.622G>A c.1526G>A (p.Ser509Asn) c.1637G>A (p.Ser546Asn) c.1691G>A (p.Ser564Asn) n.132G>A c.1580G>A (p.Ser527Asn) c.1265G>A (p.Ser422Asn) c.1262G>A (p.Ser421Asn) n.2028G>A n.1863G>A | |
3 | g.193647109G>C | CA355790441 | OPA1 | c.1799G>C (p.Ser600Thr) c.1634G>C (p.Ser545Thr) c.1745G>C (p.Ser582Thr) c.1688G>C (p.Ser563Thr) c.1573G>C c.1316G>C (p.Ser439Thr) c.*1715G>C (n.*1715G>C) c.1221G>C c.*118G>C (n.*118G>C) c.1603G>C c.1649G>C (p.Ser550Thr) c.*1112G>C (n.*1112G>C) c.*235G>C (n.*235G>C) c.622G>C c.1526G>C (p.Ser509Thr) c.1637G>C (p.Ser546Thr) c.1691G>C (p.Ser564Thr) n.132G>C c.1580G>C (p.Ser527Thr) c.1265G>C (p.Ser422Thr) c.1262G>C (p.Ser421Thr) n.2028G>C n.1863G>C | |
3 | g.193647109G>T | CA355790442 | OPA1 | c.1799G>T (p.Ser600Ile) c.1634G>T (p.Ser545Ile) c.1745G>T (p.Ser582Ile) c.1688G>T (p.Ser563Ile) c.1573G>T c.1316G>T (p.Ser439Ile) c.*1715G>T (n.*1715G>T) c.1221G>T c.*118G>T (n.*118G>T) c.1603G>T c.1649G>T (p.Ser550Ile) c.*1112G>T (n.*1112G>T) c.*235G>T (n.*235G>T) c.622G>T c.1526G>T (p.Ser509Ile) c.1637G>T (p.Ser546Ile) c.1691G>T (p.Ser564Ile) n.132G>T c.1580G>T (p.Ser527Ile) c.1265G>T (p.Ser422Ile) c.1262G>T (p.Ser421Ile) n.2028G>T n.1863G>T | |
3 | g.193647110C>A | CA223205 | OPA1 | c.1800C>A (p.Ser600Arg) c.1635C>A (p.Ser545Arg) c.1746C>A (p.Ser582Arg) c.1689C>A (p.Ser563Arg) c.1574C>A c.1317C>A (p.Ser439Arg) c.*1716C>A (n.*1716C>A) c.1222C>A c.*119C>A (n.*119C>A) c.1604C>A c.1650C>A (p.Ser550Arg) c.*1113C>A (n.*1113C>A) c.*236C>A (n.*236C>A) c.623C>A c.1527C>A (p.Ser509Arg) c.1638C>A (p.Ser546Arg) c.1692C>A (p.Ser564Arg) n.133C>A c.1581C>A (p.Ser527Arg) c.1266C>A (p.Ser422Arg) c.1263C>A (p.Ser421Arg) n.2029C>A n.1864C>A | ClinVar dbSNP |
3 | g.193647110C= | CA1430250650 | OPA1 | c.1800C= (p.Ser600=) c.1635C= (p.Ser545=) c.1746C= (p.Ser582=) c.1689C= (p.Ser563=) c.1574C= c.1317C= (p.Ser439=) c.*1716C= (n.*1716C=) c.1222C= c.*119C= (n.*119C=) c.1604C= c.1650C= (p.Ser550=) c.*1113C= (n.*1113C=) c.*236C= (n.*236C=) c.623C= c.1527C= (p.Ser509=) c.1638C= (p.Ser546=) c.1692C= (p.Ser564=) n.133C= c.1581C= (p.Ser527=) c.1266C= (p.Ser422=) c.1263C= (p.Ser421=) n.2029C= n.1864C= | |
3 | g.193647110C>G | CA10575554 | OPA1 | c.1800C>G (p.Ser600Arg) c.1635C>G (p.Ser545Arg) c.1746C>G (p.Ser582Arg) c.1689C>G (p.Ser563Arg) c.1574C>G c.1317C>G (p.Ser439Arg) c.*1716C>G (n.*1716C>G) c.1222C>G c.*119C>G (n.*119C>G) c.1604C>G c.1650C>G (p.Ser550Arg) c.*1113C>G (n.*1113C>G) c.*236C>G (n.*236C>G) c.623C>G c.1527C>G (p.Ser509Arg) c.1638C>G (p.Ser546Arg) c.1692C>G (p.Ser564Arg) n.133C>G c.1581C>G (p.Ser527Arg) c.1266C>G (p.Ser422Arg) c.1263C>G (p.Ser421Arg) n.2029C>G n.1864C>G | ClinVar dbSNP |
3 | g.193647110C>T | CA437437521 | OPA1 | c.1800C>T (p.Ser600=) c.1635C>T (p.Ser545=) c.1746C>T (p.Ser582=) c.1689C>T (p.Ser563=) c.1574C>T c.1317C>T (p.Ser439=) c.*1716C>T (n.*1716C>T) c.1222C>T c.*119C>T (n.*119C>T) c.1604C>T c.1650C>T (p.Ser550=) c.*1113C>T (n.*1113C>T) c.*236C>T (n.*236C>T) c.623C>T c.1527C>T (p.Ser509=) c.1638C>T (p.Ser546=) c.1692C>T (p.Ser564=) n.133C>T c.1581C>T (p.Ser527=) c.1266C>T (p.Ser422=) c.1263C>T (p.Ser421=) n.2029C>T n.1864C>T | |
3 | g.193647111C>A | CA355790443 | OPA1 | c.1801C>A (p.Leu601Ile) c.1636C>A (p.Leu546Ile) c.1747C>A (p.Leu583Ile) c.1690C>A (p.Leu564Ile) c.1575C>A c.1318C>A (p.Leu440Ile) c.*1717C>A (n.*1717C>A) c.1223C>A c.*120C>A (n.*120C>A) c.1605C>A c.1651C>A (p.Leu551Ile) c.*1114C>A (n.*1114C>A) c.*237C>A (n.*237C>A) c.624C>A c.1528C>A (p.Leu510Ile) c.1639C>A (p.Leu547Ile) c.1693C>A (p.Leu565Ile) n.134C>A c.1582C>A (p.Leu528Ile) c.1267C>A (p.Leu423Ile) c.1264C>A (p.Leu422Ile) n.2030C>A n.1865C>A | |
3 | g.193647111C>G | CA355790444 | OPA1 | c.1801C>G (p.Leu601Val) c.1636C>G (p.Leu546Val) c.1747C>G (p.Leu583Val) c.1690C>G (p.Leu564Val) c.1575C>G c.1318C>G (p.Leu440Val) c.*1717C>G (n.*1717C>G) c.1223C>G c.*120C>G (n.*120C>G) c.1605C>G c.1651C>G (p.Leu551Val) c.*1114C>G (n.*1114C>G) c.*237C>G (n.*237C>G) c.624C>G c.1528C>G (p.Leu510Val) c.1639C>G (p.Leu547Val) c.1693C>G (p.Leu565Val) n.134C>G c.1582C>G (p.Leu528Val) c.1267C>G (p.Leu423Val) c.1264C>G (p.Leu422Val) n.2030C>G n.1865C>G | |
3 | g.193647111C>T | CA355790445 | OPA1 | c.1801C>T (p.Leu601Phe) c.1636C>T (p.Leu546Phe) c.1747C>T (p.Leu583Phe) c.1690C>T (p.Leu564Phe) c.1575C>T c.1318C>T (p.Leu440Phe) c.*1717C>T (n.*1717C>T) c.1223C>T c.*120C>T (n.*120C>T) c.1605C>T c.1651C>T (p.Leu551Phe) c.*1114C>T (n.*1114C>T) c.*237C>T (n.*237C>T) c.624C>T c.1528C>T (p.Leu510Phe) c.1639C>T (p.Leu547Phe) c.1693C>T (p.Leu565Phe) n.134C>T c.1582C>T (p.Leu528Phe) c.1267C>T (p.Leu423Phe) c.1264C>T (p.Leu422Phe) n.2030C>T n.1865C>T | |
3 | g.193647112T>A | CA355790448 | OPA1 | c.1802T>A (p.Leu601His) c.1637T>A (p.Leu546His) c.1748T>A (p.Leu583His) c.1691T>A (p.Leu564His) c.1576T>A c.1319T>A (p.Leu440His) c.*1718T>A (n.*1718T>A) c.1224T>A c.*121T>A (n.*121T>A) c.1606T>A c.1652T>A (p.Leu551His) c.*1115T>A (n.*1115T>A) c.*238T>A (n.*238T>A) c.625T>A c.1529T>A (p.Leu510His) c.1640T>A (p.Leu547His) c.1694T>A (p.Leu565His) n.135T>A c.1583T>A (p.Leu528His) c.1268T>A (p.Leu423His) c.1265T>A (p.Leu422His) n.2031T>A n.1866T>A | |
3 | g.193647112T>C | CA355790447 | OPA1 | c.1802T>C (p.Leu601Pro) c.1637T>C (p.Leu546Pro) c.1748T>C (p.Leu583Pro) c.1691T>C (p.Leu564Pro) c.1576T>C c.1319T>C (p.Leu440Pro) c.*1718T>C (n.*1718T>C) c.1224T>C c.*121T>C (n.*121T>C) c.1606T>C c.1652T>C (p.Leu551Pro) c.*1115T>C (n.*1115T>C) c.*238T>C (n.*238T>C) c.625T>C c.1529T>C (p.Leu510Pro) c.1640T>C (p.Leu547Pro) c.1694T>C (p.Leu565Pro) n.135T>C c.1583T>C (p.Leu528Pro) c.1268T>C (p.Leu423Pro) c.1265T>C (p.Leu422Pro) n.2031T>C n.1866T>C | |
3 | g.193647112T>G | CA355790446 | OPA1 | c.1802T>G (p.Leu601Arg) c.1637T>G (p.Leu546Arg) c.1748T>G (p.Leu583Arg) c.1691T>G (p.Leu564Arg) c.1576T>G c.1319T>G (p.Leu440Arg) c.*1718T>G (n.*1718T>G) c.1224T>G c.*121T>G (n.*121T>G) c.1606T>G c.1652T>G (p.Leu551Arg) c.*1115T>G (n.*1115T>G) c.*238T>G (n.*238T>G) c.625T>G c.1529T>G (p.Leu510Arg) c.1640T>G (p.Leu547Arg) c.1694T>G (p.Leu565Arg) n.135T>G c.1583T>G (p.Leu528Arg) c.1268T>G (p.Leu423Arg) c.1265T>G (p.Leu422Arg) n.2031T>G n.1866T>G | |
3 | g.193647113T>A | CA437437522 | OPA1 | c.1803T>A (p.Leu601=) c.1638T>A (p.Leu546=) c.1749T>A (p.Leu583=) c.1692T>A (p.Leu564=) c.1577T>A c.1320T>A (p.Leu440=) c.*1719T>A (n.*1719T>A) c.1225T>A c.*122T>A (n.*122T>A) c.1607T>A c.1653T>A (p.Leu551=) c.*1116T>A (n.*1116T>A) c.*239T>A (n.*239T>A) c.626T>A c.1530T>A (p.Leu510=) c.1641T>A (p.Leu547=) c.1695T>A (p.Leu565=) n.136T>A c.1584T>A (p.Leu528=) c.1269T>A (p.Leu423=) c.1266T>A (p.Leu422=) n.2032T>A n.1867T>A | |
3 | g.193647113T>C | CA437437523 | OPA1 | c.1803T>C (p.Leu601=) c.1638T>C (p.Leu546=) c.1749T>C (p.Leu583=) c.1692T>C (p.Leu564=) c.1577T>C c.1320T>C (p.Leu440=) c.*1719T>C (n.*1719T>C) c.1225T>C c.*122T>C (n.*122T>C) c.1607T>C c.1653T>C (p.Leu551=) c.*1116T>C (n.*1116T>C) c.*239T>C (n.*239T>C) c.626T>C c.1530T>C (p.Leu510=) c.1641T>C (p.Leu547=) c.1695T>C (p.Leu565=) n.136T>C c.1584T>C (p.Leu528=) c.1269T>C (p.Leu423=) c.1266T>C (p.Leu422=) n.2032T>C n.1867T>C | |
3 | g.193647113T>G | CA437437524 | OPA1 | c.1803T>G (p.Leu601=) c.1638T>G (p.Leu546=) c.1749T>G (p.Leu583=) c.1692T>G (p.Leu564=) c.1577T>G c.1320T>G (p.Leu440=) c.*1719T>G (n.*1719T>G) c.1225T>G c.*122T>G (n.*122T>G) c.1607T>G c.1653T>G (p.Leu551=) c.*1116T>G (n.*1116T>G) c.*239T>G (n.*239T>G) c.626T>G c.1530T>G (p.Leu510=) c.1641T>G (p.Leu547=) c.1695T>G (p.Leu565=) n.136T>G c.1584T>G (p.Leu528=) c.1269T>G (p.Leu423=) c.1266T>G (p.Leu422=) n.2032T>G n.1867T>G | |
3 | g.193647116_193647117insATGCA | CA2580070534 | OPA1 | c.1806_1807insATGCA (p.Val603MetfsTer?) c.1641_1642insATGCA (p.Val548MetfsTer?) c.1752_1753insATGCA (p.Val585MetfsTer?) c.1695_1696insATGCA (p.Val566MetfsTer?) c.1580_1581insATGCA c.1323_1324insATGCA (p.Val442MetfsTer?) c.*1722_*1723insATGCA (n.*1722_*1723insATGCA) c.1228_1229insATGCA c.*125_*126insATGCA (n.*125_*126insATGCA) c.1610_1611insATGCA c.1656_1657insATGCA (p.Val553MetfsTer?) c.*1119_*1120insATGCA (n.*1119_*1120insATGCA) c.*242_*243insATGCA (n.*242_*243insATGCA) c.629_630insATGCA c.1533_1534insATGCA (p.Val512MetfsTer?) c.1644_1645insATGCA (p.Val549MetfsTer?) c.1698_1699insATGCA (p.Val567MetfsTer?) n.139_140insATGCA c.1587_1588insATGCA (p.Val530MetfsTer?) c.1272_1273insATGCA (p.Val425MetfsTer?) c.1269_1270insATGCA (p.Val424MetfsTer?) n.2035_2036insATGCA n.1870_1871insATGCA | ClinVar |
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.193647114G>A | CA355790449 | OPA1 | c.1804G>A (p.Ala602Thr) c.1639G>A (p.Ala547Thr) c.1750G>A (p.Ala584Thr) c.1693G>A (p.Ala565Thr) c.1578G>A c.1321G>A (p.Ala441Thr) c.*1720G>A (n.*1720G>A) c.1226G>A c.*123G>A (n.*123G>A) c.1608G>A c.1654G>A (p.Ala552Thr) c.*1117G>A (n.*1117G>A) c.*240G>A (n.*240G>A) c.627G>A c.1531G>A (p.Ala511Thr) c.1642G>A (p.Ala548Thr) c.1696G>A (p.Ala566Thr) n.137G>A c.1585G>A (p.Ala529Thr) c.1270G>A (p.Ala424Thr) c.1267G>A (p.Ala423Thr) n.2033G>A n.1868G>A | gnomAD v4 |
3 | g.193647114G>C | CA355790450 | OPA1 | c.1804G>C (p.Ala602Pro) c.1639G>C (p.Ala547Pro) c.1750G>C (p.Ala584Pro) c.1693G>C (p.Ala565Pro) c.1578G>C c.1321G>C (p.Ala441Pro) c.*1720G>C (n.*1720G>C) c.1226G>C c.*123G>C (n.*123G>C) c.1608G>C c.1654G>C (p.Ala552Pro) c.*1117G>C (n.*1117G>C) c.*240G>C (n.*240G>C) c.627G>C c.1531G>C (p.Ala511Pro) c.1642G>C (p.Ala548Pro) c.1696G>C (p.Ala566Pro) n.137G>C c.1585G>C (p.Ala529Pro) c.1270G>C (p.Ala424Pro) c.1267G>C (p.Ala423Pro) n.2033G>C n.1868G>C | |
3 | g.193647114G>T | CA355790451 | OPA1 | c.1804G>T (p.Ala602Ser) c.1639G>T (p.Ala547Ser) c.1750G>T (p.Ala584Ser) c.1693G>T (p.Ala565Ser) c.1578G>T c.1321G>T (p.Ala441Ser) c.*1720G>T (n.*1720G>T) c.1226G>T c.*123G>T (n.*123G>T) c.1608G>T c.1654G>T (p.Ala552Ser) c.*1117G>T (n.*1117G>T) c.*240G>T (n.*240G>T) c.627G>T c.1531G>T (p.Ala511Ser) c.1642G>T (p.Ala548Ser) c.1696G>T (p.Ala566Ser) n.137G>T c.1585G>T (p.Ala529Ser) c.1270G>T (p.Ala424Ser) c.1267G>T (p.Ala423Ser) n.2033G>T n.1868G>T | |
3 | g.193647115C>A | CA355790452 | OPA1 | c.1805C>A (p.Ala602Glu) c.1640C>A (p.Ala547Glu) c.1751C>A (p.Ala584Glu) c.1694C>A (p.Ala565Glu) c.1579C>A c.1322C>A (p.Ala441Glu) c.*1721C>A (n.*1721C>A) c.1227C>A c.*124C>A (n.*124C>A) c.1609C>A c.1655C>A (p.Ala552Glu) c.*1118C>A (n.*1118C>A) c.*241C>A (n.*241C>A) c.628C>A c.1532C>A (p.Ala511Glu) c.1643C>A (p.Ala548Glu) c.1697C>A (p.Ala566Glu) n.138C>A c.1586C>A (p.Ala529Glu) c.1271C>A (p.Ala424Glu) c.1268C>A (p.Ala423Glu) n.2034C>A n.1869C>A | ClinVar gnomAD v4 |
3 | g.193647115C>G | CA355790453 | OPA1 | c.1805C>G (p.Ala602Gly) c.1640C>G (p.Ala547Gly) c.1751C>G (p.Ala584Gly) c.1694C>G (p.Ala565Gly) c.1579C>G c.1322C>G (p.Ala441Gly) c.*1721C>G (n.*1721C>G) c.1227C>G c.*124C>G (n.*124C>G) c.1609C>G c.1655C>G (p.Ala552Gly) c.*1118C>G (n.*1118C>G) c.*241C>G (n.*241C>G) c.628C>G c.1532C>G (p.Ala511Gly) c.1643C>G (p.Ala548Gly) c.1697C>G (p.Ala566Gly) n.138C>G c.1586C>G (p.Ala529Gly) c.1271C>G (p.Ala424Gly) c.1268C>G (p.Ala423Gly) n.2034C>G n.1869C>G | |
3 | g.193647115C>T | CA355790454 | OPA1 | c.1805C>T (p.Ala602Val) c.1640C>T (p.Ala547Val) c.1751C>T (p.Ala584Val) c.1694C>T (p.Ala565Val) c.1579C>T c.1322C>T (p.Ala441Val) c.*1721C>T (n.*1721C>T) c.1227C>T c.*124C>T (n.*124C>T) c.1609C>T c.1655C>T (p.Ala552Val) c.*1118C>T (n.*1118C>T) c.*241C>T (n.*241C>T) c.628C>T c.1532C>T (p.Ala511Val) c.1643C>T (p.Ala548Val) c.1697C>T (p.Ala566Val) n.138C>T c.1586C>T (p.Ala529Val) c.1271C>T (p.Ala424Val) c.1268C>T (p.Ala423Val) n.2034C>T n.1869C>T | ClinVar gnomAD v4 |
3 | g.193647116A= | CA1430250657 | OPA1 | c.1806A= (p.Ala602=) c.1641A= (p.Ala547=) c.1752A= (p.Ala584=) c.1695A= (p.Ala565=) c.1580A= c.1323A= (p.Ala441=) c.*1722A= (n.*1722A=) c.1228A= c.*125A= (n.*125A=) c.1610A= c.1656A= (p.Ala552=) c.*1119A= (n.*1119A=) c.*242A= (n.*242A=) c.629A= c.1533A= (p.Ala511=) c.1644A= (p.Ala548=) c.1698A= (p.Ala566=) n.139A= c.1587A= (p.Ala529=) c.1272A= (p.Ala424=) c.1269A= (p.Ala423=) n.2035A= n.1870A= | |
3 | g.193647116A>C | CA437437526 | OPA1 | c.1806A>C (p.Ala602=) c.1641A>C (p.Ala547=) c.1752A>C (p.Ala584=) c.1695A>C (p.Ala565=) c.1580A>C c.1323A>C (p.Ala441=) c.*1722A>C (n.*1722A>C) c.1228A>C c.*125A>C (n.*125A>C) c.1610A>C c.1656A>C (p.Ala552=) c.*1119A>C (n.*1119A>C) c.*242A>C (n.*242A>C) c.629A>C c.1533A>C (p.Ala511=) c.1644A>C (p.Ala548=) c.1698A>C (p.Ala566=) n.139A>C c.1587A>C (p.Ala529=) c.1272A>C (p.Ala424=) c.1269A>C (p.Ala423=) n.2035A>C n.1870A>C | |
3 | g.193647116A>G | CA2759498 | OPA1 | c.1806A>G (p.Ala602=) c.1641A>G (p.Ala547=) c.1752A>G (p.Ala584=) c.1695A>G (p.Ala565=) c.1580A>G c.1323A>G (p.Ala441=) c.*1722A>G (n.*1722A>G) c.1228A>G c.*125A>G (n.*125A>G) c.1610A>G c.1656A>G (p.Ala552=) c.*1119A>G (n.*1119A>G) c.*242A>G (n.*242A>G) c.629A>G c.1533A>G (p.Ala511=) c.1644A>G (p.Ala548=) c.1698A>G (p.Ala566=) n.139A>G c.1587A>G (p.Ala529=) c.1272A>G (p.Ala424=) c.1269A>G (p.Ala423=) n.2035A>G n.1870A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.193647116A>T | CA437437525 | OPA1 | c.1806A>T (p.Ala602=) c.1641A>T (p.Ala547=) c.1752A>T (p.Ala584=) c.1695A>T (p.Ala565=) c.1580A>T c.1323A>T (p.Ala441=) c.*1722A>T (n.*1722A>T) c.1228A>T c.*125A>T (n.*125A>T) c.1610A>T c.1656A>T (p.Ala552=) c.*1119A>T (n.*1119A>T) c.*242A>T (n.*242A>T) c.629A>T c.1533A>T (p.Ala511=) c.1644A>T (p.Ala548=) c.1698A>T (p.Ala566=) n.139A>T c.1587A>T (p.Ala529=) c.1272A>T (p.Ala424=) c.1269A>T (p.Ala423=) n.2035A>T n.1870A>T | |
3 | g.193647117G>A | CA355790455 | OPA1 | c.1807G>A (p.Val603Ile) c.1642G>A (p.Val548Ile) c.1753G>A (p.Val585Ile) c.1696G>A (p.Val566Ile) c.1581G>A c.1324G>A (p.Val442Ile) c.*1723G>A (n.*1723G>A) c.1229G>A c.*126G>A (n.*126G>A) c.1611G>A c.1657G>A (p.Val553Ile) c.*1120G>A (n.*1120G>A) c.*243G>A (n.*243G>A) c.630G>A c.1534G>A (p.Val512Ile) c.1645G>A (p.Val549Ile) c.1699G>A (p.Val567Ile) n.140G>A c.1588G>A (p.Val530Ile) c.1273G>A (p.Val425Ile) c.1270G>A (p.Val424Ile) n.2036G>A n.1871G>A | |
3 | g.193647117G>C | CA355790456 | OPA1 | c.1807G>C (p.Val603Leu) c.1642G>C (p.Val548Leu) c.1753G>C (p.Val585Leu) c.1696G>C (p.Val566Leu) c.1581G>C c.1324G>C (p.Val442Leu) c.*1723G>C (n.*1723G>C) c.1229G>C c.*126G>C (n.*126G>C) c.1611G>C c.1657G>C (p.Val553Leu) c.*1120G>C (n.*1120G>C) c.*243G>C (n.*243G>C) c.630G>C c.1534G>C (p.Val512Leu) c.1645G>C (p.Val549Leu) c.1699G>C (p.Val567Leu) n.140G>C c.1588G>C (p.Val530Leu) c.1273G>C (p.Val425Leu) c.1270G>C (p.Val424Leu) n.2036G>C n.1871G>C | |
3 | g.193647117G>T | CA355790457 | OPA1 | c.1807G>T (p.Val603Leu) c.1642G>T (p.Val548Leu) c.1753G>T (p.Val585Leu) c.1696G>T (p.Val566Leu) c.1581G>T c.1324G>T (p.Val442Leu) c.*1723G>T (n.*1723G>T) c.1229G>T c.*126G>T (n.*126G>T) c.1611G>T c.1657G>T (p.Val553Leu) c.*1120G>T (n.*1120G>T) c.*243G>T (n.*243G>T) c.630G>T c.1534G>T (p.Val512Leu) c.1645G>T (p.Val549Leu) c.1699G>T (p.Val567Leu) n.140G>T c.1588G>T (p.Val530Leu) c.1273G>T (p.Val425Leu) c.1270G>T (p.Val424Leu) n.2036G>T n.1871G>T | |
3 | g.193647118T>A | CA355790458 | OPA1 | c.1808T>A (p.Val603Glu) c.1643T>A (p.Val548Glu) c.1754T>A (p.Val585Glu) c.1697T>A (p.Val566Glu) c.1582T>A c.1325T>A (p.Val442Glu) c.*1724T>A (n.*1724T>A) c.1230T>A c.*127T>A (n.*127T>A) c.1612T>A c.1658T>A (p.Val553Glu) c.*1121T>A (n.*1121T>A) c.*244T>A (n.*244T>A) c.631T>A c.1535T>A (p.Val512Glu) c.1646T>A (p.Val549Glu) c.1700T>A (p.Val567Glu) n.141T>A c.1589T>A (p.Val530Glu) c.1274T>A (p.Val425Glu) c.1271T>A (p.Val424Glu) n.2037T>A n.1872T>A | |
3 | g.193647118T>C | CA355790459 | OPA1 | c.1808T>C (p.Val603Ala) c.1643T>C (p.Val548Ala) c.1754T>C (p.Val585Ala) c.1697T>C (p.Val566Ala) c.1582T>C c.1325T>C (p.Val442Ala) c.*1724T>C (n.*1724T>C) c.1230T>C c.*127T>C (n.*127T>C) c.1612T>C c.1658T>C (p.Val553Ala) c.*1121T>C (n.*1121T>C) c.*244T>C (n.*244T>C) c.631T>C c.1535T>C (p.Val512Ala) c.1646T>C (p.Val549Ala) c.1700T>C (p.Val567Ala) n.141T>C c.1589T>C (p.Val530Ala) c.1274T>C (p.Val425Ala) c.1271T>C (p.Val424Ala) n.2037T>C n.1872T>C | |
3 | g.193647118T>G | CA355790460 | OPA1 | c.1808T>G (p.Val603Gly) c.1643T>G (p.Val548Gly) c.1754T>G (p.Val585Gly) c.1697T>G (p.Val566Gly) c.1582T>G c.1325T>G (p.Val442Gly) c.*1724T>G (n.*1724T>G) c.1230T>G c.*127T>G (n.*127T>G) c.1612T>G c.1658T>G (p.Val553Gly) c.*1121T>G (n.*1121T>G) c.*244T>G (n.*244T>G) c.631T>G c.1535T>G (p.Val512Gly) c.1646T>G (p.Val549Gly) c.1700T>G (p.Val567Gly) n.141T>G c.1589T>G (p.Val530Gly) c.1274T>G (p.Val425Gly) c.1271T>G (p.Val424Gly) n.2037T>G n.1872T>G | |
3 | g.193647118dup | CA2586973326 | OPA1 | c.1808dup (p.Ser604IlefsTer13) c.1643dup (p.Ser549IlefsTer13) c.1754dup (p.Ser586IlefsTer13) c.1697dup (p.Ser567IlefsTer13) c.1582dup c.1325dup (p.Ser443IlefsTer13) c.*1724dup (n.*1724dup) c.1230dup c.*127dup (n.*127dup) c.1612dup c.1658dup (p.Ser554IlefsTer13) c.*1121dup (n.*1121dup) c.*244dup (n.*244dup) c.631dup c.1535dup (p.Ser513IlefsTer13) c.1646dup (p.Ser550IlefsTer13) c.1700dup (p.Ser568IlefsTer13) n.141dup c.1589dup (p.Ser531IlefsTer13) c.1274dup (p.Ser426IlefsTer13) c.1271dup (p.Ser425IlefsTer13) n.2037dup n.1872dup | |
3 | g.193647119A= | CA1430250659 | OPA1 | c.1809A= (p.Val603=) c.1644A= (p.Val548=) c.1755A= (p.Val585=) c.1698A= (p.Val566=) c.1583A= c.1326A= (p.Val442=) c.*1725A= (n.*1725A=) c.1231A= c.*128A= (n.*128A=) c.1613A= c.1659A= (p.Val553=) c.*1122A= (n.*1122A=) c.*245A= (n.*245A=) c.632A= c.1536A= (p.Val512=) c.1647A= (p.Val549=) c.1701A= (p.Val567=) n.142A= c.1590A= (p.Val530=) c.1275A= (p.Val425=) c.1272A= (p.Val424=) n.2038A= n.1873A= | |
3 | g.193647119A>C | CA437437527 | OPA1 | c.1809A>C (p.Val603=) c.1644A>C (p.Val548=) c.1755A>C (p.Val585=) c.1698A>C (p.Val566=) c.1583A>C c.1326A>C (p.Val442=) c.*1725A>C (n.*1725A>C) c.1231A>C c.*128A>C (n.*128A>C) c.1613A>C c.1659A>C (p.Val553=) c.*1122A>C (n.*1122A>C) c.*245A>C (n.*245A>C) c.632A>C c.1536A>C (p.Val512=) c.1647A>C (p.Val549=) c.1701A>C (p.Val567=) n.142A>C c.1590A>C (p.Val530=) c.1275A>C (p.Val425=) c.1272A>C (p.Val424=) n.2038A>C n.1873A>C | |
3 | g.193647119A>G | CA90536241 | OPA1 | c.1809A>G (p.Val603=) c.1644A>G (p.Val548=) c.1755A>G (p.Val585=) c.1698A>G (p.Val566=) c.1583A>G c.1326A>G (p.Val442=) c.*1725A>G (n.*1725A>G) c.1231A>G c.*128A>G (n.*128A>G) c.1613A>G c.1659A>G (p.Val553=) c.*1122A>G (n.*1122A>G) c.*245A>G (n.*245A>G) c.632A>G c.1536A>G (p.Val512=) c.1647A>G (p.Val549=) c.1701A>G (p.Val567=) n.142A>G c.1590A>G (p.Val530=) c.1275A>G (p.Val425=) c.1272A>G (p.Val424=) n.2038A>G n.1873A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.193647119A>T | CA437437528 | OPA1 | c.1809A>T (p.Val603=) c.1644A>T (p.Val548=) c.1755A>T (p.Val585=) c.1698A>T (p.Val566=) c.1583A>T c.1326A>T (p.Val442=) c.*1725A>T (n.*1725A>T) c.1231A>T c.*128A>T (n.*128A>T) c.1613A>T c.1659A>T (p.Val553=) c.*1122A>T (n.*1122A>T) c.*245A>T (n.*245A>T) c.632A>T c.1536A>T (p.Val512=) c.1647A>T (p.Val549=) c.1701A>T (p.Val567=) n.142A>T c.1590A>T (p.Val530=) c.1275A>T (p.Val425=) c.1272A>T (p.Val424=) n.2038A>T n.1873A>T | |
3 | g.193647120T>A | CA355790462 | OPA1 | c.1810T>A (p.Ser604Thr) c.1645T>A (p.Ser549Thr) c.1756T>A (p.Ser586Thr) c.1699T>A (p.Ser567Thr) c.1584T>A c.1327T>A (p.Ser443Thr) c.*1726T>A (n.*1726T>A) c.1232T>A c.*129T>A (n.*129T>A) c.1614T>A c.1660T>A (p.Ser554Thr) c.*1123T>A (n.*1123T>A) c.*246T>A (n.*246T>A) c.633T>A c.1537T>A (p.Ser513Thr) c.1648T>A (p.Ser550Thr) c.1702T>A (p.Ser568Thr) n.143T>A c.1591T>A (p.Ser531Thr) c.1276T>A (p.Ser426Thr) c.1273T>A (p.Ser425Thr) n.2039T>A n.1874T>A | |
3 | g.193647120T>C | CA355790463 | OPA1 | c.1810T>C (p.Ser604Pro) c.1645T>C (p.Ser549Pro) c.1756T>C (p.Ser586Pro) c.1699T>C (p.Ser567Pro) c.1584T>C c.1327T>C (p.Ser443Pro) c.*1726T>C (n.*1726T>C) c.1232T>C c.*129T>C (n.*129T>C) c.1614T>C c.1660T>C (p.Ser554Pro) c.*1123T>C (n.*1123T>C) c.*246T>C (n.*246T>C) c.633T>C c.1537T>C (p.Ser513Pro) c.1648T>C (p.Ser550Pro) c.1702T>C (p.Ser568Pro) n.143T>C c.1591T>C (p.Ser531Pro) c.1276T>C (p.Ser426Pro) c.1273T>C (p.Ser425Pro) n.2039T>C n.1874T>C | |
3 | g.193647120T>G | CA355790461 | OPA1 | c.1810T>G (p.Ser604Ala) c.1645T>G (p.Ser549Ala) c.1756T>G (p.Ser586Ala) c.1699T>G (p.Ser567Ala) c.1584T>G c.1327T>G (p.Ser443Ala) c.*1726T>G (n.*1726T>G) c.1232T>G c.*129T>G (n.*129T>G) c.1614T>G c.1660T>G (p.Ser554Ala) c.*1123T>G (n.*1123T>G) c.*246T>G (n.*246T>G) c.633T>G c.1537T>G (p.Ser513Ala) c.1648T>G (p.Ser550Ala) c.1702T>G (p.Ser568Ala) n.143T>G c.1591T>G (p.Ser531Ala) c.1276T>G (p.Ser426Ala) c.1273T>G (p.Ser425Ala) n.2039T>G n.1874T>G | |
3 | g.193647120dup | CA2586973327 | OPA1 | c.1810dup (p.Ser604PhefsTer13) c.1645dup (p.Ser549PhefsTer13) c.1756dup (p.Ser586PhefsTer13) c.1699dup (p.Ser567PhefsTer13) c.1584dup c.1327dup (p.Ser443PhefsTer13) c.*1726dup (n.*1726dup) c.1232dup c.*129dup (n.*129dup) c.1614dup c.1660dup (p.Ser554PhefsTer13) c.*1123dup (n.*1123dup) c.*246dup (n.*246dup) c.633dup c.1537dup (p.Ser513PhefsTer13) c.1648dup (p.Ser550PhefsTer13) c.1702dup (p.Ser568PhefsTer13) n.143dup c.1591dup (p.Ser531PhefsTer13) c.1276dup (p.Ser426PhefsTer13) c.1273dup (p.Ser425PhefsTer13) n.2039dup n.1874dup | |
3 | g.193647121C>A | CA355790464 | OPA1 | c.1811C>A (p.Ser604Ter) c.1646C>A (p.Ser549Ter) c.1757C>A (p.Ser586Ter) c.1700C>A (p.Ser567Ter) c.1585C>A c.1328C>A (p.Ser443Ter) c.*1727C>A (n.*1727C>A) c.1233C>A c.*130C>A (n.*130C>A) c.1615C>A c.1661C>A (p.Ser554Ter) c.*1124C>A (n.*1124C>A) c.*247C>A (n.*247C>A) c.634C>A c.1538C>A (p.Ser513Ter) c.1649C>A (p.Ser550Ter) c.1703C>A (p.Ser568Ter) n.144C>A c.1592C>A (p.Ser531Ter) c.1277C>A (p.Ser426Ter) c.1274C>A (p.Ser425Ter) n.2040C>A n.1875C>A | |
3 | g.193647121C= | CA1430250665 | OPA1 | c.1811C= (p.Ser604=) c.1646C= (p.Ser549=) c.1757C= (p.Ser586=) c.1700C= (p.Ser567=) c.1585C= c.1328C= (p.Ser443=) c.*1727C= (n.*1727C=) c.1233C= c.*130C= (n.*130C=) c.1615C= c.1661C= (p.Ser554=) c.*1124C= (n.*1124C=) c.*247C= (n.*247C=) c.634C= c.1538C= (p.Ser513=) c.1649C= (p.Ser550=) c.1703C= (p.Ser568=) n.144C= c.1592C= (p.Ser531=) c.1277C= (p.Ser426=) c.1274C= (p.Ser425=) n.2040C= n.1875C= | |
3 | g.193647121C>G | CA355790465 | OPA1 | c.1811C>G (p.Ser604Ter) c.1646C>G (p.Ser549Ter) c.1757C>G (p.Ser586Ter) c.1700C>G (p.Ser567Ter) c.1585C>G c.1328C>G (p.Ser443Ter) c.*1727C>G (n.*1727C>G) c.1233C>G c.*130C>G (n.*130C>G) c.1615C>G c.1661C>G (p.Ser554Ter) c.*1124C>G (n.*1124C>G) c.*247C>G (n.*247C>G) c.634C>G c.1538C>G (p.Ser513Ter) c.1649C>G (p.Ser550Ter) c.1703C>G (p.Ser568Ter) n.144C>G c.1592C>G (p.Ser531Ter) c.1277C>G (p.Ser426Ter) c.1274C>G (p.Ser425Ter) n.2040C>G n.1875C>G | |
3 | g.193647121C>T | CA355790466 | OPA1 | c.1811C>T (p.Ser604Leu) c.1646C>T (p.Ser549Leu) c.1757C>T (p.Ser586Leu) c.1700C>T (p.Ser567Leu) c.1585C>T c.1328C>T (p.Ser443Leu) c.*1727C>T (n.*1727C>T) c.1233C>T c.*130C>T (n.*130C>T) c.1615C>T c.1661C>T (p.Ser554Leu) c.*1124C>T (n.*1124C>T) c.*247C>T (n.*247C>T) c.634C>T c.1538C>T (p.Ser513Leu) c.1649C>T (p.Ser550Leu) c.1703C>T (p.Ser568Leu) n.144C>T c.1592C>T (p.Ser531Leu) c.1277C>T (p.Ser426Leu) c.1274C>T (p.Ser425Leu) n.2040C>T n.1875C>T | ClinVar dbSNP |
3 | g.193647122A= | CA1430250669 | OPA1 | c.1812A= (p.Ser604=) c.1647A= (p.Ser549=) c.1758A= (p.Ser586=) c.1701A= (p.Ser567=) c.1586A= c.1329A= (p.Ser443=) c.*1728A= (n.*1728A=) c.1234A= c.*131A= (n.*131A=) c.1616A= c.1662A= (p.Ser554=) c.*1125A= (n.*1125A=) c.*248A= (n.*248A=) c.635A= c.1539A= (p.Ser513=) c.1650A= (p.Ser550=) c.1704A= (p.Ser568=) n.145A= c.1593A= (p.Ser531=) c.1278A= (p.Ser426=) c.1275A= (p.Ser425=) n.2041A= n.1876A= | |
3 | g.193647122A>C | CA437437529 | OPA1 | c.1812A>C (p.Ser604=) c.1647A>C (p.Ser549=) c.1758A>C (p.Ser586=) c.1701A>C (p.Ser567=) c.1586A>C c.1329A>C (p.Ser443=) c.*1728A>C (n.*1728A>C) c.1234A>C c.*131A>C (n.*131A>C) c.1616A>C c.1662A>C (p.Ser554=) c.*1125A>C (n.*1125A>C) c.*248A>C (n.*248A>C) c.635A>C c.1539A>C (p.Ser513=) c.1650A>C (p.Ser550=) c.1704A>C (p.Ser568=) n.145A>C c.1593A>C (p.Ser531=) c.1278A>C (p.Ser426=) c.1275A>C (p.Ser425=) n.2041A>C n.1876A>C | |
3 | g.193647122A>G | CA437437530 | OPA1 | c.1812A>G (p.Ser604=) c.1647A>G (p.Ser549=) c.1758A>G (p.Ser586=) c.1701A>G (p.Ser567=) c.1586A>G c.1329A>G (p.Ser443=) c.*1728A>G (n.*1728A>G) c.1234A>G c.*131A>G (n.*131A>G) c.1616A>G c.1662A>G (p.Ser554=) c.*1125A>G (n.*1125A>G) c.*248A>G (n.*248A>G) c.635A>G c.1539A>G (p.Ser513=) c.1650A>G (p.Ser550=) c.1704A>G (p.Ser568=) n.145A>G c.1593A>G (p.Ser531=) c.1278A>G (p.Ser426=) c.1275A>G (p.Ser425=) n.2041A>G n.1876A>G | |
3 | g.193647122A>T | CA437437531 | OPA1 | c.1812A>T (p.Ser604=) c.1647A>T (p.Ser549=) c.1758A>T (p.Ser586=) c.1701A>T (p.Ser567=) c.1586A>T c.1329A>T (p.Ser443=) c.*1728A>T (n.*1728A>T) c.1234A>T c.*131A>T (n.*131A>T) c.1616A>T c.1662A>T (p.Ser554=) c.*1125A>T (n.*1125A>T) c.*248A>T (n.*248A>T) c.635A>T c.1539A>T (p.Ser513=) c.1650A>T (p.Ser550=) c.1704A>T (p.Ser568=) n.145A>T c.1593A>T (p.Ser531=) c.1278A>T (p.Ser426=) c.1275A>T (p.Ser425=) n.2041A>T n.1876A>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.193647123G>A | CA355790467 | OPA1 | c.1813G>A (p.Asp605Asn) c.1648G>A (p.Asp550Asn) c.1759G>A (p.Asp587Asn) c.1702G>A (p.Asp568Asn) c.1587G>A c.1330G>A (p.Asp444Asn) c.*1729G>A (n.*1729G>A) c.1235G>A c.*132G>A (n.*132G>A) c.1617G>A c.1663G>A (p.Asp555Asn) c.*1126G>A (n.*1126G>A) c.*249G>A (n.*249G>A) c.636G>A c.1540G>A (p.Asp514Asn) c.1651G>A (p.Asp551Asn) c.1705G>A (p.Asp569Asn) n.146G>A c.1594G>A (p.Asp532Asn) c.1279G>A (p.Asp427Asn) c.1276G>A (p.Asp426Asn) n.2042G>A n.1877G>A | |
3 | g.193647123G>C | CA355790468 | OPA1 | c.1813G>C (p.Asp605His) c.1648G>C (p.Asp550His) c.1759G>C (p.Asp587His) c.1702G>C (p.Asp568His) c.1587G>C c.1330G>C (p.Asp444His) c.*1729G>C (n.*1729G>C) c.1235G>C c.*132G>C (n.*132G>C) c.1617G>C c.1663G>C (p.Asp555His) c.*1126G>C (n.*1126G>C) c.*249G>C (n.*249G>C) c.636G>C c.1540G>C (p.Asp514His) c.1651G>C (p.Asp551His) c.1705G>C (p.Asp569His) n.146G>C c.1594G>C (p.Asp532His) c.1279G>C (p.Asp427His) c.1276G>C (p.Asp426His) n.2042G>C n.1877G>C | |
3 | g.193647123G= | CA1430250676 | OPA1 | c.1813G= (p.Asp605=) c.1648G= (p.Asp550=) c.1759G= (p.Asp587=) c.1702G= (p.Asp568=) c.1587G= c.1330G= (p.Asp444=) c.*1729G= (n.*1729G=) c.1235G= c.*132G= (n.*132G=) c.1617G= c.1663G= (p.Asp555=) c.*1126G= (n.*1126G=) c.*249G= (n.*249G=) c.636G= c.1540G= (p.Asp514=) c.1651G= (p.Asp551=) c.1705G= (p.Asp569=) n.146G= c.1594G= (p.Asp532=) c.1279G= (p.Asp427=) c.1276G= (p.Asp426=) n.2042G= n.1877G= | |
3 | g.193647123G>T | CA355790469 | OPA1 | c.1813G>T (p.Asp605Tyr) c.1648G>T (p.Asp550Tyr) c.1759G>T (p.Asp587Tyr) c.1702G>T (p.Asp568Tyr) c.1587G>T c.1330G>T (p.Asp444Tyr) c.*1729G>T (n.*1729G>T) c.1235G>T c.*132G>T (n.*132G>T) c.1617G>T c.1663G>T (p.Asp555Tyr) c.*1126G>T (n.*1126G>T) c.*249G>T (n.*249G>T) c.636G>T c.1540G>T (p.Asp514Tyr) c.1651G>T (p.Asp551Tyr) c.1705G>T (p.Asp569Tyr) n.146G>T c.1594G>T (p.Asp532Tyr) c.1279G>T (p.Asp427Tyr) c.1276G>T (p.Asp426Tyr) n.2042G>T n.1877G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
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 | |
3 | g.193647137A>T | CA355790506 | OPA1 | c.1827A>T (p.Lys609Asn) c.1662A>T (p.Lys554Asn) c.1773A>T (p.Lys591Asn) c.1716A>T (p.Lys572Asn) c.1601A>T c.1344A>T (p.Lys448Asn) c.*1743A>T (n.*1743A>T) c.1249A>T c.*146A>T (n.*146A>T) c.1631A>T c.1677A>T (p.Lys559Asn) c.*1140A>T (n.*1140A>T) c.*263A>T (n.*263A>T) c.650A>T c.1554A>T (p.Lys518Asn) c.1665A>T (p.Lys555Asn) c.1719A>T (p.Lys573Asn) n.160A>T c.1608A>T (p.Lys536Asn) c.1293A>T (p.Lys431Asn) c.1290A>T (p.Lys430Asn) n.2056A>T n.1891A>T | |
3 | g.193647138A>C | CA355790507 | OPA1 | c.1828A>C (p.Met610Leu) c.1663A>C (p.Met555Leu) c.1774A>C (p.Met592Leu) c.1717A>C (p.Met573Leu) c.1602A>C c.1345A>C (p.Met449Leu) c.*1744A>C (n.*1744A>C) c.1250A>C c.*147A>C (n.*147A>C) c.1632A>C c.1678A>C (p.Met560Leu) c.*1141A>C (n.*1141A>C) c.*264A>C (n.*264A>C) c.651A>C c.1555A>C (p.Met519Leu) c.1666A>C (p.Met556Leu) c.1720A>C (p.Met574Leu) n.161A>C c.1609A>C (p.Met537Leu) c.1294A>C (p.Met432Leu) c.1291A>C (p.Met431Leu) n.2057A>C n.1892A>C | |
3 | g.193647138A>G | CA355790508 | OPA1 | c.1828A>G (p.Met610Val) c.1663A>G (p.Met555Val) c.1774A>G (p.Met592Val) c.1717A>G (p.Met573Val) c.1602A>G c.1345A>G (p.Met449Val) c.*1744A>G (n.*1744A>G) c.1250A>G c.*147A>G (n.*147A>G) c.1632A>G c.1678A>G (p.Met560Val) c.*1141A>G (n.*1141A>G) c.*264A>G (n.*264A>G) c.651A>G c.1555A>G (p.Met519Val) c.1666A>G (p.Met556Val) c.1720A>G (p.Met574Val) n.161A>G c.1609A>G (p.Met537Val) c.1294A>G (p.Met432Val) c.1291A>G (p.Met431Val) n.2057A>G n.1892A>G | |
3 | g.193647138A>T | CA355790509 | OPA1 | c.1828A>T (p.Met610Leu) c.1663A>T (p.Met555Leu) c.1774A>T (p.Met592Leu) c.1717A>T (p.Met573Leu) c.1602A>T c.1345A>T (p.Met449Leu) c.*1744A>T (n.*1744A>T) c.1250A>T c.*147A>T (n.*147A>T) c.1632A>T c.1678A>T (p.Met560Leu) c.*1141A>T (n.*1141A>T) c.*264A>T (n.*264A>T) c.651A>T c.1555A>T (p.Met519Leu) c.1666A>T (p.Met556Leu) c.1720A>T (p.Met574Leu) n.161A>T c.1609A>T (p.Met537Leu) c.1294A>T (p.Met432Leu) c.1291A>T (p.Met431Leu) n.2057A>T n.1892A>T | |
3 | g.193647139T>A | CA355790510 | OPA1 | c.1829T>A (p.Met610Lys) c.1664T>A (p.Met555Lys) c.1775T>A (p.Met592Lys) c.1718T>A (p.Met573Lys) c.1603T>A c.1346T>A (p.Met449Lys) c.*1745T>A (n.*1745T>A) c.1251T>A c.*148T>A (n.*148T>A) c.1633T>A c.1679T>A (p.Met560Lys) c.*1142T>A (n.*1142T>A) c.*265T>A (n.*265T>A) c.652T>A c.1556T>A (p.Met519Lys) c.1667T>A (p.Met556Lys) c.1721T>A (p.Met574Lys) n.162T>A c.1610T>A (p.Met537Lys) c.1295T>A (p.Met432Lys) c.1292T>A (p.Met431Lys) n.2058T>A n.1893T>A | |
3 | g.193647139T>C | CA355790512 | OPA1 | c.1829T>C (p.Met610Thr) c.1664T>C (p.Met555Thr) c.1775T>C (p.Met592Thr) c.1718T>C (p.Met573Thr) c.1603T>C c.1346T>C (p.Met449Thr) c.*1745T>C (n.*1745T>C) c.1251T>C c.*148T>C (n.*148T>C) c.1633T>C c.1679T>C (p.Met560Thr) c.*1142T>C (n.*1142T>C) c.*265T>C (n.*265T>C) c.652T>C c.1556T>C (p.Met519Thr) c.1667T>C (p.Met556Thr) c.1721T>C (p.Met574Thr) n.162T>C c.1610T>C (p.Met537Thr) c.1295T>C (p.Met432Thr) c.1292T>C (p.Met431Thr) n.2058T>C n.1893T>C | dbSNP gnomAD v4 |
3 | g.193647139T>G | CA355790511 | OPA1 | c.1829T>G (p.Met610Arg) c.1664T>G (p.Met555Arg) c.1775T>G (p.Met592Arg) c.1718T>G (p.Met573Arg) c.1603T>G c.1346T>G (p.Met449Arg) c.*1745T>G (n.*1745T>G) c.1251T>G c.*148T>G (n.*148T>G) c.1633T>G c.1679T>G (p.Met560Arg) c.*1142T>G (n.*1142T>G) c.*265T>G (n.*265T>G) c.652T>G c.1556T>G (p.Met519Arg) c.1667T>G (p.Met556Arg) c.1721T>G (p.Met574Arg) n.162T>G c.1610T>G (p.Met537Arg) c.1295T>G (p.Met432Arg) c.1292T>G (p.Met431Arg) n.2058T>G n.1893T>G | |
3 | g.193647139T= | CA1430250702 | OPA1 | c.1829T= (p.Met610=) c.1664T= (p.Met555=) c.1775T= (p.Met592=) c.1718T= (p.Met573=) c.1603T= c.1346T= (p.Met449=) c.*1745T= (n.*1745T=) c.1251T= c.*148T= (n.*148T=) c.1633T= c.1679T= (p.Met560=) c.*1142T= (n.*1142T=) c.*265T= (n.*265T=) c.652T= c.1556T= (p.Met519=) c.1667T= (p.Met556=) c.1721T= (p.Met574=) n.162T= c.1610T= (p.Met537=) c.1295T= (p.Met432=) c.1292T= (p.Met431=) n.2058T= n.1893T= | |
3 | g.193647140G>A | CA355790513 | OPA1 | c.1830G>A (p.Met610Ile) c.1665G>A (p.Met555Ile) c.1776G>A (p.Met592Ile) c.1719G>A (p.Met573Ile) c.1604G>A c.1347G>A (p.Met449Ile) c.*1746G>A (n.*1746G>A) c.1252G>A c.*149G>A (n.*149G>A) c.1634G>A c.1680G>A (p.Met560Ile) c.*1143G>A (n.*1143G>A) c.*266G>A (n.*266G>A) c.653G>A c.1557G>A (p.Met519Ile) c.1668G>A (p.Met556Ile) c.1722G>A (p.Met574Ile) n.163G>A c.1611G>A (p.Met537Ile) c.1296G>A (p.Met432Ile) c.1293G>A (p.Met431Ile) n.2059G>A n.1894G>A | |
3 | g.193647140G>C | CA355790514 | OPA1 | c.1830G>C (p.Met610Ile) c.1665G>C (p.Met555Ile) c.1776G>C (p.Met592Ile) c.1719G>C (p.Met573Ile) c.1604G>C c.1347G>C (p.Met449Ile) c.*1746G>C (n.*1746G>C) c.1252G>C c.*149G>C (n.*149G>C) c.1634G>C c.1680G>C (p.Met560Ile) c.*1143G>C (n.*1143G>C) c.*266G>C (n.*266G>C) c.653G>C c.1557G>C (p.Met519Ile) c.1668G>C (p.Met556Ile) c.1722G>C (p.Met574Ile) n.163G>C c.1611G>C (p.Met537Ile) c.1296G>C (p.Met432Ile) c.1293G>C (p.Met431Ile) n.2059G>C n.1894G>C | |
3 | g.193647140G= | CA1430250705 | OPA1 | c.1830G= (p.Met610=) c.1665G= (p.Met555=) c.1776G= (p.Met592=) c.1719G= (p.Met573=) c.1604G= c.1347G= (p.Met449=) c.*1746G= (n.*1746G=) c.1252G= c.*149G= (n.*149G=) c.1634G= c.1680G= (p.Met560=) c.*1143G= (n.*1143G=) c.*266G= (n.*266G=) c.653G= c.1557G= (p.Met519=) c.1668G= (p.Met556=) c.1722G= (p.Met574=) n.163G= c.1611G= (p.Met537=) c.1296G= (p.Met432=) c.1293G= (p.Met431=) n.2059G= n.1894G= | |
3 | g.193647140G>T | CA355790515 | OPA1 | c.1830G>T (p.Met610Ile) c.1665G>T (p.Met555Ile) c.1776G>T (p.Met592Ile) c.1719G>T (p.Met573Ile) c.1604G>T c.1347G>T (p.Met449Ile) c.*1746G>T (n.*1746G>T) c.1252G>T c.*149G>T (n.*149G>T) c.1634G>T c.1680G>T (p.Met560Ile) c.*1143G>T (n.*1143G>T) c.*266G>T (n.*266G>T) c.653G>T c.1557G>T (p.Met519Ile) c.1668G>T (p.Met556Ile) c.1722G>T (p.Met574Ile) n.163G>T c.1611G>T (p.Met537Ile) c.1296G>T (p.Met432Ile) c.1293G>T (p.Met431Ile) n.2059G>T n.1894G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.193647141G>A | CA355790516 | OPA1 | c.1831G>A (p.Val611Ile) c.1666G>A (p.Val556Ile) c.1777G>A (p.Val593Ile) c.1720G>A (p.Val574Ile) c.1605G>A c.1348G>A (p.Val450Ile) c.*1747G>A (n.*1747G>A) c.1253G>A c.*150G>A (n.*150G>A) c.1635G>A c.1681G>A (p.Val561Ile) c.*1144G>A (n.*1144G>A) c.*267G>A (n.*267G>A) c.654G>A c.1558G>A (p.Val520Ile) c.1669G>A (p.Val557Ile) c.1723G>A (p.Val575Ile) n.164G>A c.1612G>A (p.Val538Ile) c.1297G>A (p.Val433Ile) c.1294G>A (p.Val432Ile) n.2060G>A n.1895G>A | ClinVar dbSNP gnomAD v4 |
3 | g.193647141G>C | CA355790517 | OPA1 | c.1831G>C (p.Val611Leu) c.1666G>C (p.Val556Leu) c.1777G>C (p.Val593Leu) c.1720G>C (p.Val574Leu) c.1605G>C c.1348G>C (p.Val450Leu) c.*1747G>C (n.*1747G>C) c.1253G>C c.*150G>C (n.*150G>C) c.1635G>C c.1681G>C (p.Val561Leu) c.*1144G>C (n.*1144G>C) c.*267G>C (n.*267G>C) c.654G>C c.1558G>C (p.Val520Leu) c.1669G>C (p.Val557Leu) c.1723G>C (p.Val575Leu) n.164G>C c.1612G>C (p.Val538Leu) c.1297G>C (p.Val433Leu) c.1294G>C (p.Val432Leu) n.2060G>C n.1895G>C | |
3 | g.193647141G>T | CA355790518 | OPA1 | c.1831G>T (p.Val611Leu) c.1666G>T (p.Val556Leu) c.1777G>T (p.Val593Leu) c.1720G>T (p.Val574Leu) c.1605G>T c.1348G>T (p.Val450Leu) c.*1747G>T (n.*1747G>T) c.1253G>T c.*150G>T (n.*150G>T) c.1635G>T c.1681G>T (p.Val561Leu) c.*1144G>T (n.*1144G>T) c.*267G>T (n.*267G>T) c.654G>T c.1558G>T (p.Val520Leu) c.1669G>T (p.Val557Leu) c.1723G>T (p.Val575Leu) n.164G>T c.1612G>T (p.Val538Leu) c.1297G>T (p.Val433Leu) c.1294G>T (p.Val432Leu) n.2060G>T n.1895G>T | |
3 | g.193647142T>A | CA355790519 | OPA1 | c.1832T>A (p.Val611Glu) c.1667T>A (p.Val556Glu) c.1778T>A (p.Val593Glu) c.1721T>A (p.Val574Glu) c.1606T>A c.1349T>A (p.Val450Glu) c.*1748T>A (n.*1748T>A) c.1254T>A c.*151T>A (n.*151T>A) c.1636T>A c.1682T>A (p.Val561Glu) c.*1145T>A (n.*1145T>A) c.*268T>A (n.*268T>A) c.655T>A c.1559T>A (p.Val520Glu) c.1670T>A (p.Val557Glu) c.1724T>A (p.Val575Glu) n.165T>A c.1613T>A (p.Val538Glu) c.1298T>A (p.Val433Glu) c.1295T>A (p.Val432Glu) n.2061T>A n.1896T>A | |
3 | g.193647142T>C | CA355790520 | OPA1 | c.1832T>C (p.Val611Ala) c.1667T>C (p.Val556Ala) c.1778T>C (p.Val593Ala) c.1721T>C (p.Val574Ala) c.1606T>C c.1349T>C (p.Val450Ala) c.*1748T>C (n.*1748T>C) c.1254T>C c.*151T>C (n.*151T>C) c.1636T>C c.1682T>C (p.Val561Ala) c.*1145T>C (n.*1145T>C) c.*268T>C (n.*268T>C) c.655T>C c.1559T>C (p.Val520Ala) c.1670T>C (p.Val557Ala) c.1724T>C (p.Val575Ala) n.165T>C c.1613T>C (p.Val538Ala) c.1298T>C (p.Val433Ala) c.1295T>C (p.Val432Ala) n.2061T>C n.1896T>C | |
3 | g.193647142T>G | CA355790521 | OPA1 | c.1832T>G (p.Val611Gly) c.1667T>G (p.Val556Gly) c.1778T>G (p.Val593Gly) c.1721T>G (p.Val574Gly) c.1606T>G c.1349T>G (p.Val450Gly) c.*1748T>G (n.*1748T>G) c.1254T>G c.*151T>G (n.*151T>G) c.1636T>G c.1682T>G (p.Val561Gly) c.*1145T>G (n.*1145T>G) c.*268T>G (n.*268T>G) c.655T>G c.1559T>G (p.Val520Gly) c.1670T>G (p.Val557Gly) c.1724T>G (p.Val575Gly) n.165T>G c.1613T>G (p.Val538Gly) c.1298T>G (p.Val433Gly) c.1295T>G (p.Val432Gly) n.2061T>G n.1896T>G | ClinVar |
3 | g.193647142_193647143dup | CA2586973331 | OPA1 | c.1832_1833dup (p.Arg612TyrfsTer?) c.1667_1668dup (p.Arg557TyrfsTer?) c.1778_1779dup (p.Arg594TyrfsTer?) c.1721_1722dup (p.Arg575TyrfsTer?) c.1606_1607dup c.1349_1350dup (p.Arg451TyrfsTer?) c.*1748_*1749dup (n.*1748_*1749dup) c.1254_1255dup c.*151_*152dup (n.*151_*152dup) c.1636_1637dup c.1682_1683dup (p.Arg562TyrfsTer?) c.*1145_*1146dup (n.*1145_*1146dup) c.*268_*269dup (n.*268_*269dup) c.655_656dup c.1559_1560dup (p.Arg521TyrfsTer?) c.1670_1671dup (p.Arg558TyrfsTer?) c.1724_1725dup (p.Arg576TyrfsTer?) n.165_166dup c.1613_1614dup (p.Arg539TyrfsTer?) c.1298_1299dup (p.Arg434TyrfsTer?) c.1295_1296dup (p.Arg433TyrfsTer?) n.2061_2062dup n.1896_1897dup | |
3 | g.193647142_193647145delinsTACG | CA1430250711 | OPA1 | c.1832_1835delinsTACG (p.Val611=) c.1667_1670delinsTACG (p.Val556=) c.1778_1781delinsTACG (p.Val593=) c.1721_1724delinsTACG (p.Val574=) c.1606_1609delinsTACG c.1349_1352delinsTACG (p.Val450=) c.*1748_*1751delinsTACG (n.*1748_*1751delinsTACG) c.1254_1257delinsTACG c.*151_*154delinsTACG (n.*151_*154delinsTACG) c.1636_1639delinsTACG c.1682_1685delinsTACG (p.Val561=) c.*1145_*1148delinsTACG (n.*1145_*1148delinsTACG) c.*268_*271delinsTACG (n.*268_*271delinsTACG) c.655_658delinsTACG c.1559_1562delinsTACG (p.Val520=) c.1670_1673delinsTACG (p.Val557=) c.1724_1727delinsTACG (p.Val575=) n.165_168delinsTACG c.1613_1616delinsTACG (p.Val538=) c.1298_1301delinsTACG (p.Val433=) c.1295_1298delinsTACG (p.Val432=) n.2061_2064delinsTACG n.1896_1899delinsTACG | |
3 | g.193647143A>C | CA437437536 | OPA1 | c.1833A>C (p.Val611=) c.1668A>C (p.Val556=) c.1779A>C (p.Val593=) c.1722A>C (p.Val574=) c.1607A>C c.1350A>C (p.Val450=) c.*1749A>C (n.*1749A>C) c.1255A>C c.*152A>C (n.*152A>C) c.1637A>C c.1683A>C (p.Val561=) c.*1146A>C (n.*1146A>C) c.*269A>C (n.*269A>C) c.656A>C c.1560A>C (p.Val520=) c.1671A>C (p.Val557=) c.1725A>C (p.Val575=) n.166A>C c.1614A>C (p.Val538=) c.1299A>C (p.Val433=) c.1296A>C (p.Val432=) n.2062A>C n.1897A>C | |
3 | g.193647143A>G | CA437437537 | OPA1 | c.1833A>G (p.Val611=) c.1668A>G (p.Val556=) c.1779A>G (p.Val593=) c.1722A>G (p.Val574=) c.1607A>G c.1350A>G (p.Val450=) c.*1749A>G (n.*1749A>G) c.1255A>G c.*152A>G (n.*152A>G) c.1637A>G c.1683A>G (p.Val561=) c.*1146A>G (n.*1146A>G) c.*269A>G (n.*269A>G) c.656A>G c.1560A>G (p.Val520=) c.1671A>G (p.Val557=) c.1725A>G (p.Val575=) n.166A>G c.1614A>G (p.Val538=) c.1299A>G (p.Val433=) c.1296A>G (p.Val432=) n.2062A>G n.1897A>G | |
3 | g.193647143A>T | CA437437538 | OPA1 | c.1833A>T (p.Val611=) c.1668A>T (p.Val556=) c.1779A>T (p.Val593=) c.1722A>T (p.Val574=) c.1607A>T c.1350A>T (p.Val450=) c.*1749A>T (n.*1749A>T) c.1255A>T c.*152A>T (n.*152A>T) c.1637A>T c.1683A>T (p.Val561=) c.*1146A>T (n.*1146A>T) c.*269A>T (n.*269A>T) c.656A>T c.1560A>T (p.Val520=) c.1671A>T (p.Val557=) c.1725A>T (p.Val575=) n.166A>T c.1614A>T (p.Val538=) c.1299A>T (p.Val433=) c.1296A>T (p.Val432=) n.2062A>T n.1897A>T | |
3 | g.193647144_193647146del | CA891843448 | OPA1 | c.1834_1836del (p.Arg612del) c.1669_1671del (p.Arg557del) c.1780_1782del (p.Arg594del) c.1723_1725del (p.Arg575del) c.1608_1610del c.1351_1353del (p.Arg451del) c.*1750_*1752del (n.*1750_*1752del) c.1256_1258del c.*153_*155del (n.*153_*155del) c.1638_1640del c.1684_1686del (p.Arg562del) c.*1147_*1149del (n.*1147_*1149del) c.*270_*272del (n.*270_*272del) c.657_659del c.1561_1563del (p.Arg521del) c.1672_1674del (p.Arg558del) c.1726_1728del (p.Arg576del) n.167_169del c.1615_1617del (p.Arg539del) c.1300_1302del (p.Arg434del) c.1297_1299del (p.Arg433del) n.2063_2065del n.1898_1900del | ClinVar dbSNP |
3 | g.193647144C>A | CA437437539 | OPA1 | c.1834C>A (p.Arg612=) c.1669C>A (p.Arg557=) c.1780C>A (p.Arg594=) c.1723C>A (p.Arg575=) c.1608C>A c.1351C>A (p.Arg451=) c.*1750C>A (n.*1750C>A) c.1256C>A c.*153C>A (n.*153C>A) c.1638C>A c.1684C>A (p.Arg562=) c.*1147C>A (n.*1147C>A) c.*270C>A (n.*270C>A) c.657C>A c.1561C>A (p.Arg521=) c.1672C>A (p.Arg558=) c.1726C>A (p.Arg576=) n.167C>A c.1615C>A (p.Arg539=) c.1300C>A (p.Arg434=) c.1297C>A (p.Arg433=) n.2063C>A n.1898C>A | gnomAD v4 |
3 | g.193647144C= | CA1430250732 | OPA1 | c.1834C= (p.Arg612=) c.1669C= (p.Arg557=) c.1780C= (p.Arg594=) c.1723C= (p.Arg575=) c.1608C= c.1351C= (p.Arg451=) c.*1750C= (n.*1750C=) c.1256C= c.*153C= (n.*153C=) c.1638C= c.1684C= (p.Arg562=) c.*1147C= (n.*1147C=) c.*270C= (n.*270C=) c.657C= c.1561C= (p.Arg521=) c.1672C= (p.Arg558=) c.1726C= (p.Arg576=) n.167C= c.1615C= (p.Arg539=) c.1300C= (p.Arg434=) c.1297C= (p.Arg433=) n.2063C= n.1898C= | |
3 | g.193647144C>G | CA355790522 | OPA1 | c.1834C>G (p.Arg612Gly) c.1669C>G (p.Arg557Gly) c.1780C>G (p.Arg594Gly) c.1723C>G (p.Arg575Gly) c.1608C>G c.1351C>G (p.Arg451Gly) c.*1750C>G (n.*1750C>G) c.1256C>G c.*153C>G (n.*153C>G) c.1638C>G c.1684C>G (p.Arg562Gly) c.*1147C>G (n.*1147C>G) c.*270C>G (n.*270C>G) c.657C>G c.1561C>G (p.Arg521Gly) c.1672C>G (p.Arg558Gly) c.1726C>G (p.Arg576Gly) n.167C>G c.1615C>G (p.Arg539Gly) c.1300C>G (p.Arg434Gly) c.1297C>G (p.Arg433Gly) n.2063C>G n.1898C>G | |
3 | g.193647144C>T | CA275042 | OPA1 | c.1834C>T (p.Arg612Ter) c.1669C>T (p.Arg557Ter) c.1780C>T (p.Arg594Ter) c.1723C>T (p.Arg575Ter) c.1608C>T c.1351C>T (p.Arg451Ter) c.*1750C>T (n.*1750C>T) c.1256C>T c.*153C>T (n.*153C>T) c.1638C>T c.1684C>T (p.Arg562Ter) c.*1147C>T (n.*1147C>T) c.*270C>T (n.*270C>T) c.657C>T c.1561C>T (p.Arg521Ter) c.1672C>T (p.Arg558Ter) c.1726C>T (p.Arg576Ter) n.167C>T c.1615C>T (p.Arg539Ter) c.1300C>T (p.Arg434Ter) c.1297C>T (p.Arg433Ter) n.2063C>T n.1898C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.193647145G>A | CA355790525 | OPA1 | c.1835G>A (p.Arg612Gln) c.1670G>A (p.Arg557Gln) c.1781G>A (p.Arg594Gln) c.1724G>A (p.Arg575Gln) c.1609G>A c.1352G>A (p.Arg451Gln) c.*1751G>A (n.*1751G>A) c.1257G>A c.*154G>A (n.*154G>A) c.1639G>A c.1685G>A (p.Arg562Gln) c.*1148G>A (n.*1148G>A) c.*271G>A (n.*271G>A) c.658G>A c.1562G>A (p.Arg521Gln) c.1673G>A (p.Arg558Gln) c.1727G>A (p.Arg576Gln) n.168G>A c.1616G>A (p.Arg539Gln) c.1301G>A (p.Arg434Gln) c.1298G>A (p.Arg433Gln) n.2064G>A n.1899G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.193647145G>C | CA355790524 | OPA1 | c.1835G>C (p.Arg612Pro) c.1670G>C (p.Arg557Pro) c.1781G>C (p.Arg594Pro) c.1724G>C (p.Arg575Pro) c.1609G>C c.1352G>C (p.Arg451Pro) c.*1751G>C (n.*1751G>C) c.1257G>C c.*154G>C (n.*154G>C) c.1639G>C c.1685G>C (p.Arg562Pro) c.*1148G>C (n.*1148G>C) c.*271G>C (n.*271G>C) c.658G>C c.1562G>C (p.Arg521Pro) c.1673G>C (p.Arg558Pro) c.1727G>C (p.Arg576Pro) n.168G>C c.1616G>C (p.Arg539Pro) c.1301G>C (p.Arg434Pro) c.1298G>C (p.Arg433Pro) n.2064G>C n.1899G>C | |
3 | g.193647145G= | CA1430250735 | OPA1 | c.1835G= (p.Arg612=) c.1670G= (p.Arg557=) c.1781G= (p.Arg594=) c.1724G= (p.Arg575=) c.1609G= c.1352G= (p.Arg451=) c.*1751G= (n.*1751G=) c.1257G= c.*154G= (n.*154G=) c.1639G= c.1685G= (p.Arg562=) c.*1148G= (n.*1148G=) c.*271G= (n.*271G=) c.658G= c.1562G= (p.Arg521=) c.1673G= (p.Arg558=) c.1727G= (p.Arg576=) n.168G= c.1616G= (p.Arg539=) c.1301G= (p.Arg434=) c.1298G= (p.Arg433=) n.2064G= n.1899G= | |
3 | g.193647145G>T | CA355790523 | OPA1 | c.1835G>T (p.Arg612Leu) c.1670G>T (p.Arg557Leu) c.1781G>T (p.Arg594Leu) c.1724G>T (p.Arg575Leu) c.1609G>T c.1352G>T (p.Arg451Leu) c.*1751G>T (n.*1751G>T) c.1257G>T c.*154G>T (n.*154G>T) c.1639G>T c.1685G>T (p.Arg562Leu) c.*1148G>T (n.*1148G>T) c.*271G>T (n.*271G>T) c.658G>T c.1562G>T (p.Arg521Leu) c.1673G>T (p.Arg558Leu) c.1727G>T (p.Arg576Leu) n.168G>T c.1616G>T (p.Arg539Leu) c.1301G>T (p.Arg434Leu) c.1298G>T (p.Arg433Leu) n.2064G>T n.1899G>T | |
3 | g.193647148_193647149del | CA2586973332 | OPA1 | c.1838_1839del (p.Glu613ValfsTer3) c.1673_1674del (p.Glu558ValfsTer3) c.1784_1785del (p.Glu595ValfsTer3) c.1727_1728del (p.Glu576ValfsTer3) c.1612_1613del c.1355_1356del (p.Glu452ValfsTer3) c.*1754_*1755del (n.*1754_*1755del) c.1260_1261del c.*157_*158del (n.*157_*158del) c.1642_1643del c.1688_1689del (p.Glu563ValfsTer3) c.*1151_*1152del (n.*1151_*1152del) c.*274_*275del (n.*274_*275del) c.661_662del c.1565_1566del (p.Glu522ValfsTer3) c.1676_1677del (p.Glu559ValfsTer3) c.1730_1731del (p.Glu577ValfsTer3) n.171_172del c.1619_1620del (p.Glu540ValfsTer3) c.1304_1305del (p.Glu435ValfsTer3) c.1301_1302del (p.Glu434ValfsTer3) n.2067_2068del n.1902_1903del | |
3 | g.193647146A= | CA1430250738 | OPA1 | c.1836A= (p.Arg612=) c.1671A= (p.Arg557=) c.1782A= (p.Arg594=) c.1725A= (p.Arg575=) c.1610A= c.1353A= (p.Arg451=) c.*1752A= (n.*1752A=) c.1258A= c.*155A= (n.*155A=) c.1640A= c.1686A= (p.Arg562=) c.*1149A= (n.*1149A=) c.*272A= (n.*272A=) c.659A= c.1563A= (p.Arg521=) c.1674A= (p.Arg558=) c.1728A= (p.Arg576=) n.169A= c.1617A= (p.Arg539=) c.1302A= (p.Arg434=) c.1299A= (p.Arg433=) n.2065A= n.1900A= | |
3 | g.193647146A>C | CA437437540 | OPA1 | c.1836A>C (p.Arg612=) c.1671A>C (p.Arg557=) c.1782A>C (p.Arg594=) c.1725A>C (p.Arg575=) c.1610A>C c.1353A>C (p.Arg451=) c.*1752A>C (n.*1752A>C) c.1258A>C c.*155A>C (n.*155A>C) c.1640A>C c.1686A>C (p.Arg562=) c.*1149A>C (n.*1149A>C) c.*272A>C (n.*272A>C) c.659A>C c.1563A>C (p.Arg521=) c.1674A>C (p.Arg558=) c.1728A>C (p.Arg576=) n.169A>C c.1617A>C (p.Arg539=) c.1302A>C (p.Arg434=) c.1299A>C (p.Arg433=) n.2065A>C n.1900A>C | gnomAD v4 |
3 | g.193647146A>G | CA437437541 | OPA1 | c.1836A>G (p.Arg612=) c.1671A>G (p.Arg557=) c.1782A>G (p.Arg594=) c.1725A>G (p.Arg575=) c.1610A>G c.1353A>G (p.Arg451=) c.*1752A>G (n.*1752A>G) c.1258A>G c.*155A>G (n.*155A>G) c.1640A>G c.1686A>G (p.Arg562=) c.*1149A>G (n.*1149A>G) c.*272A>G (n.*272A>G) c.659A>G c.1563A>G (p.Arg521=) c.1674A>G (p.Arg558=) c.1728A>G (p.Arg576=) n.169A>G c.1617A>G (p.Arg539=) c.1302A>G (p.Arg434=) c.1299A>G (p.Arg433=) n.2065A>G n.1900A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.193647146A>T | CA437437542 | OPA1 | c.1836A>T (p.Arg612=) c.1671A>T (p.Arg557=) c.1782A>T (p.Arg594=) c.1725A>T (p.Arg575=) c.1610A>T c.1353A>T (p.Arg451=) c.*1752A>T (n.*1752A>T) c.1258A>T c.*155A>T (n.*155A>T) c.1640A>T c.1686A>T (p.Arg562=) c.*1149A>T (n.*1149A>T) c.*272A>T (n.*272A>T) c.659A>T c.1563A>T (p.Arg521=) c.1674A>T (p.Arg558=) c.1728A>T (p.Arg576=) n.169A>T c.1617A>T (p.Arg539=) c.1302A>T (p.Arg434=) c.1299A>T (p.Arg433=) n.2065A>T n.1900A>T | |
3 | g.193647147G>A | CA355790526 | OPA1 | c.1837G>A (p.Glu613Lys) c.1672G>A (p.Glu558Lys) c.1783G>A (p.Glu595Lys) c.1726G>A (p.Glu576Lys) c.1611G>A c.1354G>A (p.Glu452Lys) c.*1753G>A (n.*1753G>A) c.1259G>A c.*156G>A (n.*156G>A) c.1641G>A c.1687G>A (p.Glu563Lys) c.*1150G>A (n.*1150G>A) c.*273G>A (n.*273G>A) c.660G>A c.1564G>A (p.Glu522Lys) c.1675G>A (p.Glu559Lys) c.1729G>A (p.Glu577Lys) n.170G>A c.1618G>A (p.Glu540Lys) c.1303G>A (p.Glu435Lys) c.1300G>A (p.Glu434Lys) n.2066G>A n.1901G>A | |
3 | g.193647147G>C | CA355790528 | OPA1 | c.1837G>C (p.Glu613Gln) c.1672G>C (p.Glu558Gln) c.1783G>C (p.Glu595Gln) c.1726G>C (p.Glu576Gln) c.1611G>C c.1354G>C (p.Glu452Gln) c.*1753G>C (n.*1753G>C) c.1259G>C c.*156G>C (n.*156G>C) c.1641G>C c.1687G>C (p.Glu563Gln) c.*1150G>C (n.*1150G>C) c.*273G>C (n.*273G>C) c.660G>C c.1564G>C (p.Glu522Gln) c.1675G>C (p.Glu559Gln) c.1729G>C (p.Glu577Gln) n.170G>C c.1618G>C (p.Glu540Gln) c.1303G>C (p.Glu435Gln) c.1300G>C (p.Glu434Gln) n.2066G>C n.1901G>C | COSMIC |
3 | g.193647147G>T | CA355790527 | OPA1 | c.1837G>T (p.Glu613Ter) c.1672G>T (p.Glu558Ter) c.1783G>T (p.Glu595Ter) c.1726G>T (p.Glu576Ter) c.1611G>T c.1354G>T (p.Glu452Ter) c.*1753G>T (n.*1753G>T) c.1259G>T c.*156G>T (n.*156G>T) c.1641G>T c.1687G>T (p.Glu563Ter) c.*1150G>T (n.*1150G>T) c.*273G>T (n.*273G>T) c.660G>T c.1564G>T (p.Glu522Ter) c.1675G>T (p.Glu559Ter) c.1729G>T (p.Glu577Ter) n.170G>T c.1618G>T (p.Glu540Ter) c.1303G>T (p.Glu435Ter) c.1300G>T (p.Glu434Ter) n.2066G>T n.1901G>T | |
3 | g.193647148A= | CA1430250745 | OPA1 | c.1838A= (p.Glu613=) c.1673A= (p.Glu558=) c.1784A= (p.Glu595=) c.1727A= (p.Glu576=) c.1612A= c.1355A= (p.Glu452=) c.*1754A= (n.*1754A=) c.1260A= c.*157A= (n.*157A=) c.1642A= c.1688A= (p.Glu563=) c.*1151A= (n.*1151A=) c.*274A= (n.*274A=) c.661A= c.1565A= (p.Glu522=) c.1676A= (p.Glu559=) c.1730A= (p.Glu577=) n.171A= c.1619A= (p.Glu540=) c.1304A= (p.Glu435=) c.1301A= (p.Glu434=) n.2067A= n.1902A= | |
3 | g.193647148A>C | CA90536262 | OPA1 | c.1838A>C (p.Glu613Ala) c.1673A>C (p.Glu558Ala) c.1784A>C (p.Glu595Ala) c.1727A>C (p.Glu576Ala) c.1612A>C c.1355A>C (p.Glu452Ala) c.*1754A>C (n.*1754A>C) c.1260A>C c.*157A>C (n.*157A>C) c.1642A>C c.1688A>C (p.Glu563Ala) c.*1151A>C (n.*1151A>C) c.*274A>C (n.*274A>C) c.661A>C c.1565A>C (p.Glu522Ala) c.1676A>C (p.Glu559Ala) c.1730A>C (p.Glu577Ala) n.171A>C c.1619A>C (p.Glu540Ala) c.1304A>C (p.Glu435Ala) c.1301A>C (p.Glu434Ala) n.2067A>C n.1902A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.193647148A>G | CA355790530 | OPA1 | c.1838A>G (p.Glu613Gly) c.1673A>G (p.Glu558Gly) c.1784A>G (p.Glu595Gly) c.1727A>G (p.Glu576Gly) c.1612A>G c.1355A>G (p.Glu452Gly) c.*1754A>G (n.*1754A>G) c.1260A>G c.*157A>G (n.*157A>G) c.1642A>G c.1688A>G (p.Glu563Gly) c.*1151A>G (n.*1151A>G) c.*274A>G (n.*274A>G) c.661A>G c.1565A>G (p.Glu522Gly) c.1676A>G (p.Glu559Gly) c.1730A>G (p.Glu577Gly) n.171A>G c.1619A>G (p.Glu540Gly) c.1304A>G (p.Glu435Gly) c.1301A>G (p.Glu434Gly) n.2067A>G n.1902A>G | |
3 | g.193647148A>T | CA355790529 | OPA1 | c.1838A>T (p.Glu613Val) c.1673A>T (p.Glu558Val) c.1784A>T (p.Glu595Val) c.1727A>T (p.Glu576Val) c.1612A>T c.1355A>T (p.Glu452Val) c.*1754A>T (n.*1754A>T) c.1260A>T c.*157A>T (n.*157A>T) c.1642A>T c.1688A>T (p.Glu563Val) c.*1151A>T (n.*1151A>T) c.*274A>T (n.*274A>T) c.661A>T c.1565A>T (p.Glu522Val) c.1676A>T (p.Glu559Val) c.1730A>T (p.Glu577Val) n.171A>T c.1619A>T (p.Glu540Val) c.1304A>T (p.Glu435Val) c.1301A>T (p.Glu434Val) n.2067A>T n.1902A>T | |
3 | g.193647149G>A | CA437437543 | OPA1 | c.1839G>A (p.Glu613=) c.1674G>A (p.Glu558=) c.1785G>A (p.Glu595=) c.1728G>A (p.Glu576=) c.1613G>A c.1356G>A (p.Glu452=) c.*1755G>A (n.*1755G>A) c.1261G>A c.*158G>A (n.*158G>A) c.1643G>A c.1689G>A (p.Glu563=) c.*1152G>A (n.*1152G>A) c.*275G>A (n.*275G>A) c.662G>A c.1566G>A (p.Glu522=) c.1677G>A (p.Glu559=) c.1731G>A (p.Glu577=) n.172G>A c.1620G>A (p.Glu540=) c.1305G>A (p.Glu435=) c.1302G>A (p.Glu434=) n.2068G>A n.1903G>A | ClinVar dbSNP gnomAD v4 |
3 | g.193647149G>C | CA355790531 | OPA1 | c.1839G>C (p.Glu613Asp) c.1674G>C (p.Glu558Asp) c.1785G>C (p.Glu595Asp) c.1728G>C (p.Glu576Asp) c.1613G>C c.1356G>C (p.Glu452Asp) c.*1755G>C (n.*1755G>C) c.1261G>C c.*158G>C (n.*158G>C) c.1643G>C c.1689G>C (p.Glu563Asp) c.*1152G>C (n.*1152G>C) c.*275G>C (n.*275G>C) c.662G>C c.1566G>C (p.Glu522Asp) c.1677G>C (p.Glu559Asp) c.1731G>C (p.Glu577Asp) n.172G>C c.1620G>C (p.Glu540Asp) c.1305G>C (p.Glu435Asp) c.1302G>C (p.Glu434Asp) n.2068G>C n.1903G>C | |
3 | g.193647149G= | CA1430250756 | OPA1 | c.1839G= (p.Glu613=) c.1674G= (p.Glu558=) c.1785G= (p.Glu595=) c.1728G= (p.Glu576=) c.1613G= c.1356G= (p.Glu452=) c.*1755G= (n.*1755G=) c.1261G= c.*158G= (n.*158G=) c.1643G= c.1689G= (p.Glu563=) c.*1152G= (n.*1152G=) c.*275G= (n.*275G=) c.662G= c.1566G= (p.Glu522=) c.1677G= (p.Glu559=) c.1731G= (p.Glu577=) n.172G= c.1620G= (p.Glu540=) c.1305G= (p.Glu435=) c.1302G= (p.Glu434=) n.2068G= n.1903G= | |
3 | g.193647149G>T | CA355790532 | OPA1 | c.1839G>T (p.Glu613Asp) c.1674G>T (p.Glu558Asp) c.1785G>T (p.Glu595Asp) c.1728G>T (p.Glu576Asp) c.1613G>T c.1356G>T (p.Glu452Asp) c.*1755G>T (n.*1755G>T) c.1261G>T c.*158G>T (n.*158G>T) c.1643G>T c.1689G>T (p.Glu563Asp) c.*1152G>T (n.*1152G>T) c.*275G>T (n.*275G>T) c.662G>T c.1566G>T (p.Glu522Asp) c.1677G>T (p.Glu559Asp) c.1731G>T (p.Glu577Asp) n.172G>T c.1620G>T (p.Glu540Asp) c.1305G>T (p.Glu435Asp) c.1302G>T (p.Glu434Asp) n.2068G>T n.1903G>T | |
3 | g.193647149_193647151dup | CA2759949428 | OPA1 | c.1839_1841dup (p.Ser614_Val615insSer) c.1674_1676dup (p.Ser559_Val560insSer) c.1785_1787dup (p.Ser596_Val597insSer) c.1728_1730dup (p.Ser577_Val578insSer) c.1613_1615dup c.1356_1358dup (p.Ser453_Val454insSer) c.*1755_*1757dup (n.*1755_*1757dup) c.1261_1263dup c.*158_*160dup (n.*158_*160dup) c.1643_1645dup c.1689_1691dup (p.Ser564_Val565insSer) c.*1152_*1154dup (n.*1152_*1154dup) c.*275_*277dup (n.*275_*277dup) c.662_664dup c.1566_1568dup (p.Ser523_Val524insSer) c.1677_1679dup (p.Ser560_Val561insSer) c.1731_1733dup (p.Ser578_Val579insSer) n.172_174dup c.1620_1622dup (p.Ser541_Val542insSer) c.1305_1307dup (p.Ser436_Val437insSer) c.1302_1304dup (p.Ser435_Val436insSer) n.2068_2070dup n.1903_1905dup | |
3 | g.193647150T>A | CA355790533 | OPA1 | c.1840T>A (p.Ser614Thr) c.1675T>A (p.Ser559Thr) c.1786T>A (p.Ser596Thr) c.1729T>A (p.Ser577Thr) c.1614T>A c.1357T>A (p.Ser453Thr) c.*1756T>A (n.*1756T>A) c.1262T>A c.*159T>A (n.*159T>A) c.1644T>A c.1690T>A (p.Ser564Thr) c.*1153T>A (n.*1153T>A) c.*276T>A (n.*276T>A) c.663T>A c.1567T>A (p.Ser523Thr) c.1678T>A (p.Ser560Thr) c.1732T>A (p.Ser578Thr) n.173T>A c.1621T>A (p.Ser541Thr) c.1306T>A (p.Ser436Thr) c.1303T>A (p.Ser435Thr) n.2069T>A n.1904T>A | |
3 | g.193647150T>C | CA355790534 | OPA1 | c.1840T>C (p.Ser614Pro) c.1675T>C (p.Ser559Pro) c.1786T>C (p.Ser596Pro) c.1729T>C (p.Ser577Pro) c.1614T>C c.1357T>C (p.Ser453Pro) c.*1756T>C (n.*1756T>C) c.1262T>C c.*159T>C (n.*159T>C) c.1644T>C c.1690T>C (p.Ser564Pro) c.*1153T>C (n.*1153T>C) c.*276T>C (n.*276T>C) c.663T>C c.1567T>C (p.Ser523Pro) c.1678T>C (p.Ser560Pro) c.1732T>C (p.Ser578Pro) n.173T>C c.1621T>C (p.Ser541Pro) c.1306T>C (p.Ser436Pro) c.1303T>C (p.Ser435Pro) n.2069T>C n.1904T>C | gnomAD v4 |
3 | g.193647150T>G | CA355790535 | OPA1 | c.1840T>G (p.Ser614Ala) c.1675T>G (p.Ser559Ala) c.1786T>G (p.Ser596Ala) c.1729T>G (p.Ser577Ala) c.1614T>G c.1357T>G (p.Ser453Ala) c.*1756T>G (n.*1756T>G) c.1262T>G c.*159T>G (n.*159T>G) c.1644T>G c.1690T>G (p.Ser564Ala) c.*1153T>G (n.*1153T>G) c.*276T>G (n.*276T>G) c.663T>G c.1567T>G (p.Ser523Ala) c.1678T>G (p.Ser560Ala) c.1732T>G (p.Ser578Ala) n.173T>G c.1621T>G (p.Ser541Ala) c.1306T>G (p.Ser436Ala) c.1303T>G (p.Ser435Ala) n.2069T>G n.1904T>G | |
3 | g.193647151C>A | CA355790536 | OPA1 | c.1841C>A (p.Ser614Tyr) c.1676C>A (p.Ser559Tyr) c.1787C>A (p.Ser596Tyr) c.1730C>A (p.Ser577Tyr) c.1615C>A c.1358C>A (p.Ser453Tyr) c.*1757C>A (n.*1757C>A) c.1263C>A c.*160C>A (n.*160C>A) c.1645C>A c.1691C>A (p.Ser564Tyr) c.*1154C>A (n.*1154C>A) c.*277C>A (n.*277C>A) c.664C>A c.1568C>A (p.Ser523Tyr) c.1679C>A (p.Ser560Tyr) c.1733C>A (p.Ser578Tyr) n.174C>A c.1622C>A (p.Ser541Tyr) c.1307C>A (p.Ser436Tyr) c.1304C>A (p.Ser435Tyr) n.2070C>A n.1905C>A | |
3 | g.193647151C>G | CA355790537 | OPA1 | c.1841C>G (p.Ser614Cys) c.1676C>G (p.Ser559Cys) c.1787C>G (p.Ser596Cys) c.1730C>G (p.Ser577Cys) c.1615C>G c.1358C>G (p.Ser453Cys) c.*1757C>G (n.*1757C>G) c.1263C>G c.*160C>G (n.*160C>G) c.1645C>G c.1691C>G (p.Ser564Cys) c.*1154C>G (n.*1154C>G) c.*277C>G (n.*277C>G) c.664C>G c.1568C>G (p.Ser523Cys) c.1679C>G (p.Ser560Cys) c.1733C>G (p.Ser578Cys) n.174C>G c.1622C>G (p.Ser541Cys) c.1307C>G (p.Ser436Cys) c.1304C>G (p.Ser435Cys) n.2070C>G n.1905C>G | |
3 | g.193647151C>T | CA355790538 | OPA1 | c.1841C>T (p.Ser614Phe) c.1676C>T (p.Ser559Phe) c.1787C>T (p.Ser596Phe) c.1730C>T (p.Ser577Phe) c.1615C>T c.1358C>T (p.Ser453Phe) c.*1757C>T (n.*1757C>T) c.1263C>T c.*160C>T (n.*160C>T) c.1645C>T c.1691C>T (p.Ser564Phe) c.*1154C>T (n.*1154C>T) c.*277C>T (n.*277C>T) c.664C>T c.1568C>T (p.Ser523Phe) c.1679C>T (p.Ser560Phe) c.1733C>T (p.Ser578Phe) n.174C>T c.1622C>T (p.Ser541Phe) c.1307C>T (p.Ser436Phe) c.1304C>T (p.Ser435Phe) n.2070C>T n.1905C>T | |
3 | g.193647152T>A | CA437437544 | OPA1 | c.1842T>A (p.Ser614=) c.1677T>A (p.Ser559=) c.1788T>A (p.Ser596=) c.1731T>A (p.Ser577=) c.1616T>A c.1359T>A (p.Ser453=) c.*1758T>A (n.*1758T>A) c.1264T>A c.*161T>A (n.*161T>A) c.1646T>A c.1692T>A (p.Ser564=) c.*1155T>A (n.*1155T>A) c.*278T>A (n.*278T>A) c.665T>A c.1569T>A (p.Ser523=) c.1680T>A (p.Ser560=) c.1734T>A (p.Ser578=) n.175T>A c.1623T>A (p.Ser541=) c.1308T>A (p.Ser436=) c.1305T>A (p.Ser435=) n.2071T>A n.1906T>A | |
3 | g.193647152T>C | CA437437545 | OPA1 | c.1842T>C (p.Ser614=) c.1677T>C (p.Ser559=) c.1788T>C (p.Ser596=) c.1731T>C (p.Ser577=) c.1616T>C c.1359T>C (p.Ser453=) c.*1758T>C (n.*1758T>C) c.1264T>C c.*161T>C (n.*161T>C) c.1646T>C c.1692T>C (p.Ser564=) c.*1155T>C (n.*1155T>C) c.*278T>C (n.*278T>C) c.665T>C c.1569T>C (p.Ser523=) c.1680T>C (p.Ser560=) c.1734T>C (p.Ser578=) n.175T>C c.1623T>C (p.Ser541=) c.1308T>C (p.Ser436=) c.1305T>C (p.Ser435=) n.2071T>C n.1906T>C | |
3 | g.193647152T>G | CA437437546 | OPA1 | c.1842T>G (p.Ser614=) c.1677T>G (p.Ser559=) c.1788T>G (p.Ser596=) c.1731T>G (p.Ser577=) c.1616T>G c.1359T>G (p.Ser453=) c.*1758T>G (n.*1758T>G) c.1264T>G c.*161T>G (n.*161T>G) c.1646T>G c.1692T>G (p.Ser564=) c.*1155T>G (n.*1155T>G) c.*278T>G (n.*278T>G) c.665T>G c.1569T>G (p.Ser523=) c.1680T>G (p.Ser560=) c.1734T>G (p.Ser578=) n.175T>G c.1623T>G (p.Ser541=) c.1308T>G (p.Ser436=) c.1305T>G (p.Ser435=) n.2071T>G n.1906T>G | |
3 | g.193647153G>A | CA355790539 | OPA1 | c.1843G>A (p.Val615Ile) c.1678G>A (p.Val560Ile) c.1789G>A (p.Val597Ile) c.1732G>A (p.Val578Ile) c.1617G>A c.1360G>A (p.Val454Ile) c.*1759G>A (n.*1759G>A) c.1265G>A c.*162G>A (n.*162G>A) c.1647G>A c.1693G>A (p.Val565Ile) c.*1156G>A (n.*1156G>A) c.*279G>A (n.*279G>A) c.666G>A c.1570G>A (p.Val524Ile) c.1681G>A (p.Val561Ile) c.1735G>A (p.Val579Ile) n.176G>A c.1624G>A (p.Val542Ile) c.1309G>A (p.Val437Ile) c.1306G>A (p.Val436Ile) n.2072G>A n.1907G>A | |
3 | g.193647153G>C | CA355790540 | OPA1 | c.1843G>C (p.Val615Leu) c.1678G>C (p.Val560Leu) c.1789G>C (p.Val597Leu) c.1732G>C (p.Val578Leu) c.1617G>C c.1360G>C (p.Val454Leu) c.*1759G>C (n.*1759G>C) c.1265G>C c.*162G>C (n.*162G>C) c.1647G>C c.1693G>C (p.Val565Leu) c.*1156G>C (n.*1156G>C) c.*279G>C (n.*279G>C) c.666G>C c.1570G>C (p.Val524Leu) c.1681G>C (p.Val561Leu) c.1735G>C (p.Val579Leu) n.176G>C c.1624G>C (p.Val542Leu) c.1309G>C (p.Val437Leu) c.1306G>C (p.Val436Leu) n.2072G>C n.1907G>C | |
3 | g.193647153G>T | CA355790541 | OPA1 | c.1843G>T (p.Val615Phe) c.1678G>T (p.Val560Phe) c.1789G>T (p.Val597Phe) c.1732G>T (p.Val578Phe) c.1617G>T c.1360G>T (p.Val454Phe) c.*1759G>T (n.*1759G>T) c.1265G>T c.*162G>T (n.*162G>T) c.1647G>T c.1693G>T (p.Val565Phe) c.*1156G>T (n.*1156G>T) c.*279G>T (n.*279G>T) c.666G>T c.1570G>T (p.Val524Phe) c.1681G>T (p.Val561Phe) c.1735G>T (p.Val579Phe) n.176G>T c.1624G>T (p.Val542Phe) c.1309G>T (p.Val437Phe) c.1306G>T (p.Val436Phe) n.2072G>T n.1907G>T | |
3 | g.193647154T>A | CA355790544 | OPA1 | c.1844T>A (p.Val615Asp) c.1679T>A (p.Val560Asp) c.1790T>A (p.Val597Asp) c.1733T>A (p.Val578Asp) c.1618T>A c.1361T>A (p.Val454Asp) c.*1760T>A (n.*1760T>A) c.1266T>A c.*163T>A (n.*163T>A) c.1648T>A c.1694T>A (p.Val565Asp) c.*1157T>A (n.*1157T>A) c.*280T>A (n.*280T>A) c.667T>A c.1571T>A (p.Val524Asp) c.1682T>A (p.Val561Asp) c.1736T>A (p.Val579Asp) n.177T>A c.1625T>A (p.Val542Asp) c.1310T>A (p.Val437Asp) c.1307T>A (p.Val436Asp) n.2073T>A n.1908T>A | |
3 | g.193647154T>C | CA355790543 | OPA1 | c.1844T>C (p.Val615Ala) c.1679T>C (p.Val560Ala) c.1790T>C (p.Val597Ala) c.1733T>C (p.Val578Ala) c.1618T>C c.1361T>C (p.Val454Ala) c.*1760T>C (n.*1760T>C) c.1266T>C c.*163T>C (n.*163T>C) c.1648T>C c.1694T>C (p.Val565Ala) c.*1157T>C (n.*1157T>C) c.*280T>C (n.*280T>C) c.667T>C c.1571T>C (p.Val524Ala) c.1682T>C (p.Val561Ala) c.1736T>C (p.Val579Ala) n.177T>C c.1625T>C (p.Val542Ala) c.1310T>C (p.Val437Ala) c.1307T>C (p.Val436Ala) n.2073T>C n.1908T>C | |
3 | g.193647154T>G | CA355790542 | OPA1 | c.1844T>G (p.Val615Gly) c.1679T>G (p.Val560Gly) c.1790T>G (p.Val597Gly) c.1733T>G (p.Val578Gly) c.1618T>G c.1361T>G (p.Val454Gly) c.*1760T>G (n.*1760T>G) c.1266T>G c.*163T>G (n.*163T>G) c.1648T>G c.1694T>G (p.Val565Gly) c.*1157T>G (n.*1157T>G) c.*280T>G (n.*280T>G) c.667T>G c.1571T>G (p.Val524Gly) c.1682T>G (p.Val561Gly) c.1736T>G (p.Val579Gly) n.177T>G c.1625T>G (p.Val542Gly) c.1310T>G (p.Val437Gly) c.1307T>G (p.Val436Gly) n.2073T>G n.1908T>G | |
3 | g.193647155T>A | CA437437547 | OPA1 | c.1845T>A (p.Val615=) c.1680T>A (p.Val560=) c.1791T>A (p.Val597=) c.1734T>A (p.Val578=) c.1619T>A c.1362T>A (p.Val454=) c.*1761T>A (n.*1761T>A) c.1267T>A c.*164T>A (n.*164T>A) c.1649T>A c.1695T>A (p.Val565=) c.*1158T>A (n.*1158T>A) c.*281T>A (n.*281T>A) c.668T>A c.1572T>A (p.Val524=) c.1683T>A (p.Val561=) c.1737T>A (p.Val579=) n.178T>A c.1626T>A (p.Val542=) c.1311T>A (p.Val437=) c.1308T>A (p.Val436=) n.2074T>A n.1909T>A | |
3 | g.193647155T>C | CA437437549 | OPA1 | c.1845T>C (p.Val615=) c.1680T>C (p.Val560=) c.1791T>C (p.Val597=) c.1734T>C (p.Val578=) c.1619T>C c.1362T>C (p.Val454=) c.*1761T>C (n.*1761T>C) c.1267T>C c.*164T>C (n.*164T>C) c.1649T>C c.1695T>C (p.Val565=) c.*1158T>C (n.*1158T>C) c.*281T>C (n.*281T>C) c.668T>C c.1572T>C (p.Val524=) c.1683T>C (p.Val561=) c.1737T>C (p.Val579=) n.178T>C c.1626T>C (p.Val542=) c.1311T>C (p.Val437=) c.1308T>C (p.Val436=) n.2074T>C n.1909T>C | |
3 | g.193647155T>G | CA437437548 | OPA1 | c.1845T>G (p.Val615=) c.1680T>G (p.Val560=) c.1791T>G (p.Val597=) c.1734T>G (p.Val578=) c.1619T>G c.1362T>G (p.Val454=) c.*1761T>G (n.*1761T>G) c.1267T>G c.*164T>G (n.*164T>G) c.1649T>G c.1695T>G (p.Val565=) c.*1158T>G (n.*1158T>G) c.*281T>G (n.*281T>G) c.668T>G c.1572T>G (p.Val524=) c.1683T>G (p.Val561=) c.1737T>G (p.Val579=) n.178T>G c.1626T>G (p.Val542=) c.1311T>G (p.Val437=) c.1308T>G (p.Val436=) n.2074T>G n.1909T>G | |
3 | g.193647156G>A | CA355790545 | OPA1 | c.1846G>A (p.Glu616Lys) c.1681G>A (p.Glu561Lys) c.1792G>A (p.Glu598Lys) c.1735G>A (p.Glu579Lys) c.1620G>A c.1363G>A (p.Glu455Lys) c.*1762G>A (n.*1762G>A) c.1268G>A c.*165G>A (n.*165G>A) c.1650G>A c.1696G>A (p.Glu566Lys) c.*1159G>A (n.*1159G>A) c.*282G>A (n.*282G>A) c.669G>A c.1573G>A (p.Glu525Lys) c.1684G>A (p.Glu562Lys) c.1738G>A (p.Glu580Lys) n.179G>A c.1627G>A (p.Glu543Lys) c.1312G>A (p.Glu438Lys) c.1309G>A (p.Glu437Lys) n.2075G>A n.1910G>A | dbSNP |
3 | g.193647156G>C | CA355790546 | OPA1 | c.1846G>C (p.Glu616Gln) c.1681G>C (p.Glu561Gln) c.1792G>C (p.Glu598Gln) c.1735G>C (p.Glu579Gln) c.1620G>C c.1363G>C (p.Glu455Gln) c.*1762G>C (n.*1762G>C) c.1268G>C c.*165G>C (n.*165G>C) c.1650G>C c.1696G>C (p.Glu566Gln) c.*1159G>C (n.*1159G>C) c.*282G>C (n.*282G>C) c.669G>C c.1573G>C (p.Glu525Gln) c.1684G>C (p.Glu562Gln) c.1738G>C (p.Glu580Gln) n.179G>C c.1627G>C (p.Glu543Gln) c.1312G>C (p.Glu438Gln) c.1309G>C (p.Glu437Gln) n.2075G>C n.1910G>C | ClinVar dbSNP |
3 | g.193647156G= | CA1430250760 | OPA1 | c.1846G= (p.Glu616=) c.1681G= (p.Glu561=) c.1792G= (p.Glu598=) c.1735G= (p.Glu579=) c.1620G= c.1363G= (p.Glu455=) c.*1762G= (n.*1762G=) c.1268G= c.*165G= (n.*165G=) c.1650G= c.1696G= (p.Glu566=) c.*1159G= (n.*1159G=) c.*282G= (n.*282G=) c.669G= c.1573G= (p.Glu525=) c.1684G= (p.Glu562=) c.1738G= (p.Glu580=) n.179G= c.1627G= (p.Glu543=) c.1312G= (p.Glu438=) c.1309G= (p.Glu437=) n.2075G= n.1910G= | |
3 | g.193647156G>T | CA355790547 | OPA1 | c.1846G>T (p.Glu616Ter) c.1681G>T (p.Glu561Ter) c.1792G>T (p.Glu598Ter) c.1735G>T (p.Glu579Ter) c.1620G>T c.1363G>T (p.Glu455Ter) c.*1762G>T (n.*1762G>T) c.1268G>T c.*165G>T (n.*165G>T) c.1650G>T c.1696G>T (p.Glu566Ter) c.*1159G>T (n.*1159G>T) c.*282G>T (n.*282G>T) c.669G>T c.1573G>T (p.Glu525Ter) c.1684G>T (p.Glu562Ter) c.1738G>T (p.Glu580Ter) n.179G>T c.1627G>T (p.Glu543Ter) c.1312G>T (p.Glu438Ter) c.1309G>T (p.Glu437Ter) n.2075G>T n.1910G>T | |
3 | g.193647157A>C | CA355790548 | OPA1 | c.1847A>C (p.Glu616Ala) c.1682A>C (p.Glu561Ala) c.1793A>C (p.Glu598Ala) c.1736A>C (p.Glu579Ala) c.1621A>C c.1364A>C (p.Glu455Ala) c.*1763A>C (n.*1763A>C) c.1269A>C c.*166A>C (n.*166A>C) c.1651A>C c.1697A>C (p.Glu566Ala) c.*1160A>C (n.*1160A>C) c.*283A>C (n.*283A>C) c.670A>C c.1574A>C (p.Glu525Ala) c.1685A>C (p.Glu562Ala) c.1739A>C (p.Glu580Ala) n.180A>C c.1628A>C (p.Glu543Ala) c.1313A>C (p.Glu438Ala) c.1310A>C (p.Glu437Ala) n.2076A>C n.1911A>C | |
3 | g.193647157A>G | CA355790549 | OPA1 | c.1847A>G (p.Glu616Gly) c.1682A>G (p.Glu561Gly) c.1793A>G (p.Glu598Gly) c.1736A>G (p.Glu579Gly) c.1621A>G c.1364A>G (p.Glu455Gly) c.*1763A>G (n.*1763A>G) c.1269A>G c.*166A>G (n.*166A>G) c.1651A>G c.1697A>G (p.Glu566Gly) c.*1160A>G (n.*1160A>G) c.*283A>G (n.*283A>G) c.670A>G c.1574A>G (p.Glu525Gly) c.1685A>G (p.Glu562Gly) c.1739A>G (p.Glu580Gly) n.180A>G c.1628A>G (p.Glu543Gly) c.1313A>G (p.Glu438Gly) c.1310A>G (p.Glu437Gly) n.2076A>G n.1911A>G | |
3 | g.193647157A>T | CA355790550 | OPA1 | c.1847A>T (p.Glu616Val) c.1682A>T (p.Glu561Val) c.1793A>T (p.Glu598Val) c.1736A>T (p.Glu579Val) c.1621A>T c.1364A>T (p.Glu455Val) c.*1763A>T (n.*1763A>T) c.1269A>T c.*166A>T (n.*166A>T) c.1651A>T c.1697A>T (p.Glu566Val) c.*1160A>T (n.*1160A>T) c.*283A>T (n.*283A>T) c.670A>T c.1574A>T (p.Glu525Val) c.1685A>T (p.Glu562Val) c.1739A>T (p.Glu580Val) n.180A>T c.1628A>T (p.Glu543Val) c.1313A>T (p.Glu438Val) c.1310A>T (p.Glu437Val) n.2076A>T n.1911A>T | |
3 | g.193647158A>C | CA355790551 | OPA1 | c.1848A>C (p.Glu616Asp) c.1683A>C (p.Glu561Asp) c.1794A>C (p.Glu598Asp) c.1737A>C (p.Glu579Asp) c.1622A>C c.1365A>C (p.Glu455Asp) c.*1764A>C (n.*1764A>C) c.1270A>C c.*167A>C (n.*167A>C) c.1652A>C c.1698A>C (p.Glu566Asp) c.*1161A>C (n.*1161A>C) c.*284A>C (n.*284A>C) c.671A>C c.1575A>C (p.Glu525Asp) c.1686A>C (p.Glu562Asp) c.1740A>C (p.Glu580Asp) n.181A>C c.1629A>C (p.Glu543Asp) c.1314A>C (p.Glu438Asp) c.1311A>C (p.Glu437Asp) n.2077A>C n.1912A>C | |
3 | g.193647158A>G | CA437437551 | OPA1 | c.1848A>G (p.Glu616=) c.1683A>G (p.Glu561=) c.1794A>G (p.Glu598=) c.1737A>G (p.Glu579=) c.1622A>G c.1365A>G (p.Glu455=) c.*1764A>G (n.*1764A>G) c.1270A>G c.*167A>G (n.*167A>G) c.1652A>G c.1698A>G (p.Glu566=) c.*1161A>G (n.*1161A>G) c.*284A>G (n.*284A>G) c.671A>G c.1575A>G (p.Glu525=) c.1686A>G (p.Glu562=) c.1740A>G (p.Glu580=) n.181A>G c.1629A>G (p.Glu543=) c.1314A>G (p.Glu438=) c.1311A>G (p.Glu437=) n.2077A>G n.1912A>G | |
3 | g.193647158A>T | CA355790552 | OPA1 | c.1848A>T (p.Glu616Asp) c.1683A>T (p.Glu561Asp) c.1794A>T (p.Glu598Asp) c.1737A>T (p.Glu579Asp) c.1622A>T c.1365A>T (p.Glu455Asp) c.*1764A>T (n.*1764A>T) c.1270A>T c.*167A>T (n.*167A>T) c.1652A>T c.1698A>T (p.Glu566Asp) c.*1161A>T (n.*1161A>T) c.*284A>T (n.*284A>T) c.671A>T c.1575A>T (p.Glu525Asp) c.1686A>T (p.Glu562Asp) c.1740A>T (p.Glu580Asp) n.181A>T c.1629A>T (p.Glu543Asp) c.1314A>T (p.Glu438Asp) c.1311A>T (p.Glu437Asp) n.2077A>T n.1912A>T | |
3 | g.193647159C>A | CA355790553 | OPA1 | c.1849C>A (p.Gln617Lys) c.1684C>A (p.Gln562Lys) c.1795C>A (p.Gln599Lys) c.1738C>A (p.Gln580Lys) c.1623C>A c.1366C>A (p.Gln456Lys) c.*1765C>A (n.*1765C>A) c.1271C>A c.*168C>A (n.*168C>A) c.1653C>A c.1699C>A (p.Gln567Lys) c.*1162C>A (n.*1162C>A) c.*285C>A (n.*285C>A) c.672C>A c.1576C>A (p.Gln526Lys) c.1687C>A (p.Gln563Lys) c.1741C>A (p.Gln581Lys) n.182C>A c.1630C>A (p.Gln544Lys) c.1315C>A (p.Gln439Lys) c.1312C>A (p.Gln438Lys) n.2078C>A n.1913C>A | |
3 | g.193647159C>G | CA355790554 | OPA1 | c.1849C>G (p.Gln617Glu) c.1684C>G (p.Gln562Glu) c.1795C>G (p.Gln599Glu) c.1738C>G (p.Gln580Glu) c.1623C>G c.1366C>G (p.Gln456Glu) c.*1765C>G (n.*1765C>G) c.1271C>G c.*168C>G (n.*168C>G) c.1653C>G c.1699C>G (p.Gln567Glu) c.*1162C>G (n.*1162C>G) c.*285C>G (n.*285C>G) c.672C>G c.1576C>G (p.Gln526Glu) c.1687C>G (p.Gln563Glu) c.1741C>G (p.Gln581Glu) n.182C>G c.1630C>G (p.Gln544Glu) c.1315C>G (p.Gln439Glu) c.1312C>G (p.Gln438Glu) n.2078C>G n.1913C>G | |
3 | g.193647159C>T | CA355790555 | OPA1 | c.1849C>T (p.Gln617Ter) c.1684C>T (p.Gln562Ter) c.1795C>T (p.Gln599Ter) c.1738C>T (p.Gln580Ter) c.1623C>T c.1366C>T (p.Gln456Ter) c.*1765C>T (n.*1765C>T) c.1271C>T c.*168C>T (n.*168C>T) c.1653C>T c.1699C>T (p.Gln567Ter) c.*1162C>T (n.*1162C>T) c.*285C>T (n.*285C>T) c.672C>T c.1576C>T (p.Gln526Ter) c.1687C>T (p.Gln563Ter) c.1741C>T (p.Gln581Ter) n.182C>T c.1630C>T (p.Gln544Ter) c.1315C>T (p.Gln439Ter) c.1312C>T (p.Gln438Ter) n.2078C>T n.1913C>T | ClinVar |
3 | g.193647160A= | CA1430250766 | OPA1 | c.1850A= (p.Gln617=) c.1685A= (p.Gln562=) c.1796A= (p.Gln599=) c.1739A= (p.Gln580=) c.1624A= c.1367A= (p.Gln456=) c.*1766A= (n.*1766A=) c.1272A= c.*169A= (n.*169A=) c.1654A= c.1700A= (p.Gln567=) c.*1163A= (n.*1163A=) c.*286A= (n.*286A=) c.673A= c.1577A= (p.Gln526=) c.1688A= (p.Gln563=) c.1742A= (p.Gln581=) n.183A= c.1631A= (p.Gln544=) c.1316A= (p.Gln439=) c.1313A= (p.Gln438=) n.2079A= n.1914A= | |
3 | g.193647160A>C | CA355790558 | OPA1 | c.1850A>C (p.Gln617Pro) c.1685A>C (p.Gln562Pro) c.1796A>C (p.Gln599Pro) c.1739A>C (p.Gln580Pro) c.1624A>C c.1367A>C (p.Gln456Pro) c.*1766A>C (n.*1766A>C) c.1272A>C c.*169A>C (n.*169A>C) c.1654A>C c.1700A>C (p.Gln567Pro) c.*1163A>C (n.*1163A>C) c.*286A>C (n.*286A>C) c.673A>C c.1577A>C (p.Gln526Pro) c.1688A>C (p.Gln563Pro) c.1742A>C (p.Gln581Pro) n.183A>C c.1631A>C (p.Gln544Pro) c.1316A>C (p.Gln439Pro) c.1313A>C (p.Gln438Pro) n.2079A>C n.1914A>C | |
3 | g.193647160A>G | CA355790557 | OPA1 | c.1850A>G (p.Gln617Arg) c.1685A>G (p.Gln562Arg) c.1796A>G (p.Gln599Arg) c.1739A>G (p.Gln580Arg) c.1624A>G c.1367A>G (p.Gln456Arg) c.*1766A>G (n.*1766A>G) c.1272A>G c.*169A>G (n.*169A>G) c.1654A>G c.1700A>G (p.Gln567Arg) c.*1163A>G (n.*1163A>G) c.*286A>G (n.*286A>G) c.673A>G c.1577A>G (p.Gln526Arg) c.1688A>G (p.Gln563Arg) c.1742A>G (p.Gln581Arg) n.183A>G c.1631A>G (p.Gln544Arg) c.1316A>G (p.Gln439Arg) c.1313A>G (p.Gln438Arg) n.2079A>G n.1914A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.193647160A>T | CA355790556 | OPA1 | c.1850A>T (p.Gln617Leu) c.1685A>T (p.Gln562Leu) c.1796A>T (p.Gln599Leu) c.1739A>T (p.Gln580Leu) c.1624A>T c.1367A>T (p.Gln456Leu) c.*1766A>T (n.*1766A>T) c.1272A>T c.*169A>T (n.*169A>T) c.1654A>T c.1700A>T (p.Gln567Leu) c.*1163A>T (n.*1163A>T) c.*286A>T (n.*286A>T) c.673A>T c.1577A>T (p.Gln526Leu) c.1688A>T (p.Gln563Leu) c.1742A>T (p.Gln581Leu) n.183A>T c.1631A>T (p.Gln544Leu) c.1316A>T (p.Gln439Leu) c.1313A>T (p.Gln438Leu) n.2079A>T n.1914A>T | |
3 | g.193647161A>C | CA355790559 | OPA1 | c.1851A>C (p.Gln617His) c.1686A>C (p.Gln562His) c.1797A>C (p.Gln599His) c.1740A>C (p.Gln580His) c.1625A>C c.1368A>C (p.Gln456His) c.*1767A>C (n.*1767A>C) c.1273A>C c.*170A>C (n.*170A>C) c.1655A>C c.1701A>C (p.Gln567His) c.*1164A>C (n.*1164A>C) c.*287A>C (n.*287A>C) c.674A>C c.1578A>C (p.Gln526His) c.1689A>C (p.Gln563His) c.1743A>C (p.Gln581His) n.184A>C c.1632A>C (p.Gln544His) c.1317A>C (p.Gln439His) c.1314A>C (p.Gln438His) n.2080A>C n.1915A>C | |
3 | g.193647161A>G | CA437437552 | OPA1 | c.1851A>G (p.Gln617=) c.1686A>G (p.Gln562=) c.1797A>G (p.Gln599=) c.1740A>G (p.Gln580=) c.1625A>G c.1368A>G (p.Gln456=) c.*1767A>G (n.*1767A>G) c.1273A>G c.*170A>G (n.*170A>G) c.1655A>G c.1701A>G (p.Gln567=) c.*1164A>G (n.*1164A>G) c.*287A>G (n.*287A>G) c.674A>G c.1578A>G (p.Gln526=) c.1689A>G (p.Gln563=) c.1743A>G (p.Gln581=) n.184A>G c.1632A>G (p.Gln544=) c.1317A>G (p.Gln439=) c.1314A>G (p.Gln438=) n.2080A>G n.1915A>G | |
3 | g.193647161A>T | CA355790560 | OPA1 | c.1851A>T (p.Gln617His) c.1686A>T (p.Gln562His) c.1797A>T (p.Gln599His) c.1740A>T (p.Gln580His) c.1625A>T c.1368A>T (p.Gln456His) c.*1767A>T (n.*1767A>T) c.1273A>T c.*170A>T (n.*170A>T) c.1655A>T c.1701A>T (p.Gln567His) c.*1164A>T (n.*1164A>T) c.*287A>T (n.*287A>T) c.674A>T c.1578A>T (p.Gln526His) c.1689A>T (p.Gln563His) c.1743A>T (p.Gln581His) n.184A>T c.1632A>T (p.Gln544His) c.1317A>T (p.Gln439His) c.1314A>T (p.Gln438His) n.2080A>T n.1915A>T | |
3 | g.193647162C>A | CA355790561 | OPA1 | c.1852C>A (p.Gln618Lys) c.1687C>A (p.Gln563Lys) c.1798C>A (p.Gln600Lys) c.1741C>A (p.Gln581Lys) c.1626C>A c.1369C>A (p.Gln457Lys) c.*1768C>A (n.*1768C>A) c.1274C>A c.*171C>A (n.*171C>A) c.1656C>A c.1702C>A (p.Gln568Lys) c.*1165C>A (n.*1165C>A) c.*288C>A (n.*288C>A) c.675C>A c.1579C>A (p.Gln527Lys) c.1690C>A (p.Gln564Lys) c.1744C>A (p.Gln582Lys) n.185C>A c.1633C>A (p.Gln545Lys) c.1318C>A (p.Gln440Lys) c.1315C>A (p.Gln439Lys) n.2081C>A n.1916C>A | |
3 | g.193647162C>G | CA355790562 | OPA1 | c.1852C>G (p.Gln618Glu) c.1687C>G (p.Gln563Glu) c.1798C>G (p.Gln600Glu) c.1741C>G (p.Gln581Glu) c.1626C>G c.1369C>G (p.Gln457Glu) c.*1768C>G (n.*1768C>G) c.1274C>G c.*171C>G (n.*171C>G) c.1656C>G c.1702C>G (p.Gln568Glu) c.*1165C>G (n.*1165C>G) c.*288C>G (n.*288C>G) c.675C>G c.1579C>G (p.Gln527Glu) c.1690C>G (p.Gln564Glu) c.1744C>G (p.Gln582Glu) n.185C>G c.1633C>G (p.Gln545Glu) c.1318C>G (p.Gln440Glu) c.1315C>G (p.Gln439Glu) n.2081C>G n.1916C>G | |
3 | g.193647162C>T | CA355790563 | OPA1 | c.1852C>T (p.Gln618Ter) c.1687C>T (p.Gln563Ter) c.1798C>T (p.Gln600Ter) c.1741C>T (p.Gln581Ter) c.1626C>T c.1369C>T (p.Gln457Ter) c.*1768C>T (n.*1768C>T) c.1274C>T c.*171C>T (n.*171C>T) c.1656C>T c.1702C>T (p.Gln568Ter) c.*1165C>T (n.*1165C>T) c.*288C>T (n.*288C>T) c.675C>T c.1579C>T (p.Gln527Ter) c.1690C>T (p.Gln564Ter) c.1744C>T (p.Gln582Ter) n.185C>T c.1633C>T (p.Gln545Ter) c.1318C>T (p.Gln440Ter) c.1315C>T (p.Gln439Ter) n.2081C>T n.1916C>T | ClinVar |
3 | g.193647163A>C | CA355790564 | OPA1 | c.1853A>C (p.Gln618Pro) c.1688A>C (p.Gln563Pro) c.1799A>C (p.Gln600Pro) c.1742A>C (p.Gln581Pro) c.1627A>C c.1370A>C (p.Gln457Pro) c.*1769A>C (n.*1769A>C) c.1275A>C c.*172A>C (n.*172A>C) c.1657A>C c.1703A>C (p.Gln568Pro) c.*1166A>C (n.*1166A>C) c.*289A>C (n.*289A>C) c.676A>C c.1580A>C (p.Gln527Pro) c.1691A>C (p.Gln564Pro) c.1745A>C (p.Gln582Pro) n.186A>C c.1634A>C (p.Gln545Pro) c.1319A>C (p.Gln440Pro) c.1316A>C (p.Gln439Pro) n.2082A>C n.1917A>C | |
3 | g.193647163A>G | CA355790565 | OPA1 | c.1853A>G (p.Gln618Arg) c.1688A>G (p.Gln563Arg) c.1799A>G (p.Gln600Arg) c.1742A>G (p.Gln581Arg) c.1627A>G c.1370A>G (p.Gln457Arg) c.*1769A>G (n.*1769A>G) c.1275A>G c.*172A>G (n.*172A>G) c.1657A>G c.1703A>G (p.Gln568Arg) c.*1166A>G (n.*1166A>G) c.*289A>G (n.*289A>G) c.676A>G c.1580A>G (p.Gln527Arg) c.1691A>G (p.Gln564Arg) c.1745A>G (p.Gln582Arg) n.186A>G c.1634A>G (p.Gln545Arg) c.1319A>G (p.Gln440Arg) c.1316A>G (p.Gln439Arg) n.2082A>G n.1917A>G | |
3 | g.193647163A>T | CA355790566 | OPA1 | c.1853A>T (p.Gln618Leu) c.1688A>T (p.Gln563Leu) c.1799A>T (p.Gln600Leu) c.1742A>T (p.Gln581Leu) c.1627A>T c.1370A>T (p.Gln457Leu) c.*1769A>T (n.*1769A>T) c.1275A>T c.*172A>T (n.*172A>T) c.1657A>T c.1703A>T (p.Gln568Leu) c.*1166A>T (n.*1166A>T) c.*289A>T (n.*289A>T) c.676A>T c.1580A>T (p.Gln527Leu) c.1691A>T (p.Gln564Leu) c.1745A>T (p.Gln582Leu) n.186A>T c.1634A>T (p.Gln545Leu) c.1319A>T (p.Gln440Leu) c.1316A>T (p.Gln439Leu) n.2082A>T n.1917A>T | |
3 | g.193647164G>A | CA437437553 | OPA1 | c.1854G>A (p.Gln618=) c.1689G>A (p.Gln563=) c.1800G>A (p.Gln600=) c.1743G>A (p.Gln581=) c.1628G>A c.1371G>A (p.Gln457=) c.*1770G>A (n.*1770G>A) c.1276G>A c.*173G>A (n.*173G>A) c.1658G>A c.1704G>A (p.Gln568=) c.*1167G>A (n.*1167G>A) c.*290G>A (n.*290G>A) c.677G>A c.1581G>A (p.Gln527=) c.1692G>A (p.Gln564=) c.1746G>A (p.Gln582=) n.187G>A c.1635G>A (p.Gln545=) c.1320G>A (p.Gln440=) c.1317G>A (p.Gln439=) n.2083G>A n.1918G>A | |
3 | g.193647164G>C | CA355790567 | OPA1 | c.1854G>C (p.Gln618His) c.1689G>C (p.Gln563His) c.1800G>C (p.Gln600His) c.1743G>C (p.Gln581His) c.1628G>C c.1371G>C (p.Gln457His) c.*1770G>C (n.*1770G>C) c.1276G>C c.*173G>C (n.*173G>C) c.1658G>C c.1704G>C (p.Gln568His) c.*1167G>C (n.*1167G>C) c.*290G>C (n.*290G>C) c.677G>C c.1581G>C (p.Gln527His) c.1692G>C (p.Gln564His) c.1746G>C (p.Gln582His) n.187G>C c.1635G>C (p.Gln545His) c.1320G>C (p.Gln440His) c.1317G>C (p.Gln439His) n.2083G>C n.1918G>C | |
3 | g.193647164G>T | CA355790568 | OPA1 | c.1854G>T (p.Gln618His) c.1689G>T (p.Gln563His) c.1800G>T (p.Gln600His) c.1743G>T (p.Gln581His) c.1628G>T c.1371G>T (p.Gln457His) c.*1770G>T (n.*1770G>T) c.1276G>T c.*173G>T (n.*173G>T) c.1658G>T c.1704G>T (p.Gln568His) c.*1167G>T (n.*1167G>T) c.*290G>T (n.*290G>T) c.677G>T c.1581G>T (p.Gln527His) c.1692G>T (p.Gln564His) c.1746G>T (p.Gln582His) n.187G>T c.1635G>T (p.Gln545His) c.1320G>T (p.Gln440His) c.1317G>T (p.Gln439His) n.2083G>T n.1918G>T | |
3 | g.193647165G>A | CA355790569 | OPA1 | c.1855G>A (p.Ala619Thr) c.1690G>A (p.Ala564Thr) c.1801G>A (p.Ala601Thr) c.1744G>A (p.Ala582Thr) c.1629G>A c.1372G>A (p.Ala458Thr) c.*1771G>A (n.*1771G>A) c.1277G>A c.*174G>A (n.*174G>A) c.1659G>A c.1705G>A (p.Ala569Thr) c.*1168G>A (n.*1168G>A) c.*291G>A (n.*291G>A) c.678G>A c.1582G>A (p.Ala528Thr) c.1693G>A (p.Ala565Thr) c.1747G>A (p.Ala583Thr) n.188G>A c.1636G>A (p.Ala546Thr) c.1321G>A (p.Ala441Thr) c.1318G>A (p.Ala440Thr) n.2084G>A n.1919G>A | |
3 | g.193647165G>C | CA355790570 | OPA1 | c.1855G>C (p.Ala619Pro) c.1690G>C (p.Ala564Pro) c.1801G>C (p.Ala601Pro) c.1744G>C (p.Ala582Pro) c.1629G>C c.1372G>C (p.Ala458Pro) c.*1771G>C (n.*1771G>C) c.1277G>C c.*174G>C (n.*174G>C) c.1659G>C c.1705G>C (p.Ala569Pro) c.*1168G>C (n.*1168G>C) c.*291G>C (n.*291G>C) c.678G>C c.1582G>C (p.Ala528Pro) c.1693G>C (p.Ala565Pro) c.1747G>C (p.Ala583Pro) n.188G>C c.1636G>C (p.Ala546Pro) c.1321G>C (p.Ala441Pro) c.1318G>C (p.Ala440Pro) n.2084G>C n.1919G>C | |
3 | g.193647165G>T | CA355790571 | OPA1 | c.1855G>T (p.Ala619Ser) c.1690G>T (p.Ala564Ser) c.1801G>T (p.Ala601Ser) c.1744G>T (p.Ala582Ser) c.1629G>T c.1372G>T (p.Ala458Ser) c.*1771G>T (n.*1771G>T) c.1277G>T c.*174G>T (n.*174G>T) c.1659G>T c.1705G>T (p.Ala569Ser) c.*1168G>T (n.*1168G>T) c.*291G>T (n.*291G>T) c.678G>T c.1582G>T (p.Ala528Ser) c.1693G>T (p.Ala565Ser) c.1747G>T (p.Ala583Ser) n.188G>T c.1636G>T (p.Ala546Ser) c.1321G>T (p.Ala441Ser) c.1318G>T (p.Ala440Ser) n.2084G>T n.1919G>T | |
3 | g.193647166C>A | CA355790574 | OPA1 | c.1856C>A (p.Ala619Asp) c.1691C>A (p.Ala564Asp) c.1802C>A (p.Ala601Asp) c.1745C>A (p.Ala582Asp) c.1630C>A c.1373C>A (p.Ala458Asp) c.*1772C>A (n.*1772C>A) c.1278C>A c.*175C>A (n.*175C>A) c.1660C>A c.1706C>A (p.Ala569Asp) c.*1169C>A (n.*1169C>A) c.*292C>A (n.*292C>A) c.679C>A c.1583C>A (p.Ala528Asp) c.1694C>A (p.Ala565Asp) c.1748C>A (p.Ala583Asp) n.189C>A c.1637C>A (p.Ala546Asp) c.1322C>A (p.Ala441Asp) c.1319C>A (p.Ala440Asp) n.2085C>A n.1920C>A | |
3 | g.193647166C>G | CA355790572 | OPA1 | c.1856C>G (p.Ala619Gly) c.1691C>G (p.Ala564Gly) c.1802C>G (p.Ala601Gly) c.1745C>G (p.Ala582Gly) c.1630C>G c.1373C>G (p.Ala458Gly) c.*1772C>G (n.*1772C>G) c.1278C>G c.*175C>G (n.*175C>G) c.1660C>G c.1706C>G (p.Ala569Gly) c.*1169C>G (n.*1169C>G) c.*292C>G (n.*292C>G) c.679C>G c.1583C>G (p.Ala528Gly) c.1694C>G (p.Ala565Gly) c.1748C>G (p.Ala583Gly) n.189C>G c.1637C>G (p.Ala546Gly) c.1322C>G (p.Ala441Gly) c.1319C>G (p.Ala440Gly) n.2085C>G n.1920C>G | |
3 | g.193647166C>T | CA355790573 | OPA1 | c.1856C>T (p.Ala619Val) c.1691C>T (p.Ala564Val) c.1802C>T (p.Ala601Val) c.1745C>T (p.Ala582Val) c.1630C>T c.1373C>T (p.Ala458Val) c.*1772C>T (n.*1772C>T) c.1278C>T c.*175C>T (n.*175C>T) c.1660C>T c.1706C>T (p.Ala569Val) c.*1169C>T (n.*1169C>T) c.*292C>T (n.*292C>T) c.679C>T c.1583C>T (p.Ala528Val) c.1694C>T (p.Ala565Val) c.1748C>T (p.Ala583Val) n.189C>T c.1637C>T (p.Ala546Val) c.1322C>T (p.Ala441Val) c.1319C>T (p.Ala440Val) n.2085C>T n.1920C>T | |
3 | g.193647167del | CA2573136859 | OPA1 | c.1857del (p.Asp620IlefsTer?) c.1692del (p.Asp565IlefsTer?) c.1803del (p.Asp602IlefsTer?) c.1746del (p.Asp583IlefsTer?) c.1631del c.1374del (p.Asp459IlefsTer?) c.*1773del (n.*1773del) c.1279del c.*176del (n.*176del) c.1661del c.1707del (p.Asp570IlefsTer?) c.*1170del (n.*1170del) c.*293del (n.*293del) c.680del c.1584del (p.Asp529IlefsTer?) c.1695del (p.Asp566IlefsTer?) c.1749del (p.Asp584IlefsTer?) n.190del c.1638del (p.Asp547IlefsTer?) c.1323del (p.Asp442IlefsTer?) c.1320del (p.Asp441IlefsTer?) n.2086del n.1921del | ClinVar dbSNP |
3 | g.193647167T>A | CA437437554 | OPA1 | c.1857T>A (p.Ala619=) c.1692T>A (p.Ala564=) c.1803T>A (p.Ala601=) c.1746T>A (p.Ala582=) c.1631T>A c.1374T>A (p.Ala458=) c.*1773T>A (n.*1773T>A) c.1279T>A c.*176T>A (n.*176T>A) c.1661T>A c.1707T>A (p.Ala569=) c.*1170T>A (n.*1170T>A) c.*293T>A (n.*293T>A) c.680T>A c.1584T>A (p.Ala528=) c.1695T>A (p.Ala565=) c.1749T>A (p.Ala583=) n.190T>A c.1638T>A (p.Ala546=) c.1323T>A (p.Ala441=) c.1320T>A (p.Ala440=) n.2086T>A n.1921T>A | |
3 | g.193647167T>C | CA437437555 | OPA1 | c.1857T>C (p.Ala619=) c.1692T>C (p.Ala564=) c.1803T>C (p.Ala601=) c.1746T>C (p.Ala582=) c.1631T>C c.1374T>C (p.Ala458=) c.*1773T>C (n.*1773T>C) c.1279T>C c.*176T>C (n.*176T>C) c.1661T>C c.1707T>C (p.Ala569=) c.*1170T>C (n.*1170T>C) c.*293T>C (n.*293T>C) c.680T>C c.1584T>C (p.Ala528=) c.1695T>C (p.Ala565=) c.1749T>C (p.Ala583=) n.190T>C c.1638T>C (p.Ala546=) c.1323T>C (p.Ala441=) c.1320T>C (p.Ala440=) n.2086T>C n.1921T>C | |
3 | g.193647167T>G | CA437437556 | OPA1 | c.1857T>G (p.Ala619=) c.1692T>G (p.Ala564=) c.1803T>G (p.Ala601=) c.1746T>G (p.Ala582=) c.1631T>G c.1374T>G (p.Ala458=) c.*1773T>G (n.*1773T>G) c.1279T>G c.*176T>G (n.*176T>G) c.1661T>G c.1707T>G (p.Ala569=) c.*1170T>G (n.*1170T>G) c.*293T>G (n.*293T>G) c.680T>G c.1584T>G (p.Ala528=) c.1695T>G (p.Ala565=) c.1749T>G (p.Ala583=) n.190T>G c.1638T>G (p.Ala546=) c.1323T>G (p.Ala441=) c.1320T>G (p.Ala440=) n.2086T>G n.1921T>G | |
3 | g.193647168del | CA2580060382 | OPA1 | c.1858del (p.Asp620IlefsTer?) c.1693del (p.Asp565IlefsTer?) c.1804del (p.Asp602IlefsTer?) c.1747del (p.Asp583IlefsTer?) c.1632del c.1375del (p.Asp459IlefsTer?) c.*1774del (n.*1774del) c.1280del c.*177del (n.*177del) c.1662del c.1708del (p.Asp570IlefsTer?) c.*1171del (n.*1171del) c.*294del (n.*294del) c.681del c.1585del (p.Asp529IlefsTer?) c.1696del (p.Asp566IlefsTer?) c.1750del (p.Asp584IlefsTer?) n.191del c.1639del (p.Asp547IlefsTer?) c.1324del (p.Asp442IlefsTer?) c.1321del (p.Asp441IlefsTer?) n.2087del n.1922del | |
3 | g.193647168G>A | CA355790575 | OPA1 | c.1858G>A (p.Asp620Asn) c.1693G>A (p.Asp565Asn) c.1804G>A (p.Asp602Asn) c.1747G>A (p.Asp583Asn) c.1632G>A c.1375G>A (p.Asp459Asn) c.*1774G>A (n.*1774G>A) c.1280G>A c.*177G>A (n.*177G>A) c.1662G>A c.1708G>A (p.Asp570Asn) c.*1171G>A (n.*1171G>A) c.*294G>A (n.*294G>A) c.681G>A c.1585G>A (p.Asp529Asn) c.1696G>A (p.Asp566Asn) c.1750G>A (p.Asp584Asn) n.191G>A c.1639G>A (p.Asp547Asn) c.1324G>A (p.Asp442Asn) c.1321G>A (p.Asp441Asn) n.2087G>A n.1922G>A | |
3 | g.193647168G>C | CA355790576 | OPA1 | c.1858G>C (p.Asp620His) c.1693G>C (p.Asp565His) c.1804G>C (p.Asp602His) c.1747G>C (p.Asp583His) c.1632G>C c.1375G>C (p.Asp459His) c.*1774G>C (n.*1774G>C) c.1280G>C c.*177G>C (n.*177G>C) c.1662G>C c.1708G>C (p.Asp570His) c.*1171G>C (n.*1171G>C) c.*294G>C (n.*294G>C) c.681G>C c.1585G>C (p.Asp529His) c.1696G>C (p.Asp566His) c.1750G>C (p.Asp584His) n.191G>C c.1639G>C (p.Asp547His) c.1324G>C (p.Asp442His) c.1321G>C (p.Asp441His) n.2087G>C n.1922G>C | |
3 | g.193647168G>T | CA355790577 | OPA1 | c.1858G>T (p.Asp620Tyr) c.1693G>T (p.Asp565Tyr) c.1804G>T (p.Asp602Tyr) c.1747G>T (p.Asp583Tyr) c.1632G>T c.1375G>T (p.Asp459Tyr) c.*1774G>T (n.*1774G>T) c.1280G>T c.*177G>T (n.*177G>T) c.1662G>T c.1708G>T (p.Asp570Tyr) c.*1171G>T (n.*1171G>T) c.*294G>T (n.*294G>T) c.681G>T c.1585G>T (p.Asp529Tyr) c.1696G>T (p.Asp566Tyr) c.1750G>T (p.Asp584Tyr) n.191G>T c.1639G>T (p.Asp547Tyr) c.1324G>T (p.Asp442Tyr) c.1321G>T (p.Asp441Tyr) n.2087G>T n.1922G>T | gnomAD v4 |
3 | g.193647169A>C | CA355790578 | OPA1 | c.1859A>C (p.Asp620Ala) c.1694A>C (p.Asp565Ala) c.1805A>C (p.Asp602Ala) c.1748A>C (p.Asp583Ala) c.1633A>C c.1376A>C (p.Asp459Ala) c.*1775A>C (n.*1775A>C) c.1281A>C c.*178A>C (n.*178A>C) c.1663A>C c.1709A>C (p.Asp570Ala) c.*1172A>C (n.*1172A>C) c.*295A>C (n.*295A>C) c.682A>C c.1586A>C (p.Asp529Ala) c.1697A>C (p.Asp566Ala) c.1751A>C (p.Asp584Ala) n.192A>C c.1640A>C (p.Asp547Ala) c.1325A>C (p.Asp442Ala) c.1322A>C (p.Asp441Ala) n.2088A>C n.1923A>C | |
3 | g.193647169A>G | CA355790579 | OPA1 | c.1859A>G (p.Asp620Gly) c.1694A>G (p.Asp565Gly) c.1805A>G (p.Asp602Gly) c.1748A>G (p.Asp583Gly) c.1633A>G c.1376A>G (p.Asp459Gly) c.*1775A>G (n.*1775A>G) c.1281A>G c.*178A>G (n.*178A>G) c.1663A>G c.1709A>G (p.Asp570Gly) c.*1172A>G (n.*1172A>G) c.*295A>G (n.*295A>G) c.682A>G c.1586A>G (p.Asp529Gly) c.1697A>G (p.Asp566Gly) c.1751A>G (p.Asp584Gly) n.192A>G c.1640A>G (p.Asp547Gly) c.1325A>G (p.Asp442Gly) c.1322A>G (p.Asp441Gly) n.2088A>G n.1923A>G | |
3 | g.193647169A>T | CA355790580 | OPA1 | c.1859A>T (p.Asp620Val) c.1694A>T (p.Asp565Val) c.1805A>T (p.Asp602Val) c.1748A>T (p.Asp583Val) c.1633A>T c.1376A>T (p.Asp459Val) c.*1775A>T (n.*1775A>T) c.1281A>T c.*178A>T (n.*178A>T) c.1663A>T c.1709A>T (p.Asp570Val) c.*1172A>T (n.*1172A>T) c.*295A>T (n.*295A>T) c.682A>T c.1586A>T (p.Asp529Val) c.1697A>T (p.Asp566Val) c.1751A>T (p.Asp584Val) n.192A>T c.1640A>T (p.Asp547Val) c.1325A>T (p.Asp442Val) c.1322A>T (p.Asp441Val) n.2088A>T n.1923A>T | |
3 | g.193647170T>A | CA355790581 | OPA1 | c.1860T>A (p.Asp620Glu) c.1695T>A (p.Asp565Glu) c.1806T>A (p.Asp602Glu) c.1749T>A (p.Asp583Glu) c.1634T>A c.1377T>A (p.Asp459Glu) c.*1776T>A (n.*1776T>A) c.1282T>A c.*179T>A (n.*179T>A) c.1664T>A c.1710T>A (p.Asp570Glu) c.*1173T>A (n.*1173T>A) c.*296T>A (n.*296T>A) c.683T>A c.1587T>A (p.Asp529Glu) c.1698T>A (p.Asp566Glu) c.1752T>A (p.Asp584Glu) n.193T>A c.1641T>A (p.Asp547Glu) c.1326T>A (p.Asp442Glu) c.1323T>A (p.Asp441Glu) n.2089T>A n.1924T>A | |
3 | g.193647170T>C | CA437437558 | OPA1 | c.1860T>C (p.Asp620=) c.1695T>C (p.Asp565=) c.1806T>C (p.Asp602=) c.1749T>C (p.Asp583=) c.1634T>C c.1377T>C (p.Asp459=) c.*1776T>C (n.*1776T>C) c.1282T>C c.*179T>C (n.*179T>C) c.1664T>C c.1710T>C (p.Asp570=) c.*1173T>C (n.*1173T>C) c.*296T>C (n.*296T>C) c.683T>C c.1587T>C (p.Asp529=) c.1698T>C (p.Asp566=) c.1752T>C (p.Asp584=) n.193T>C c.1641T>C (p.Asp547=) c.1326T>C (p.Asp442=) c.1323T>C (p.Asp441=) n.2089T>C n.1924T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.193647170T>G | CA355790582 | OPA1 | c.1860T>G (p.Asp620Glu) c.1695T>G (p.Asp565Glu) c.1806T>G (p.Asp602Glu) c.1749T>G (p.Asp583Glu) c.1634T>G c.1377T>G (p.Asp459Glu) c.*1776T>G (n.*1776T>G) c.1282T>G c.*179T>G (n.*179T>G) c.1664T>G c.1710T>G (p.Asp570Glu) c.*1173T>G (n.*1173T>G) c.*296T>G (n.*296T>G) c.683T>G c.1587T>G (p.Asp529Glu) c.1698T>G (p.Asp566Glu) c.1752T>G (p.Asp584Glu) n.193T>G c.1641T>G (p.Asp547Glu) c.1326T>G (p.Asp442Glu) c.1323T>G (p.Asp441Glu) n.2089T>G n.1924T>G | |
3 | g.193647170T= | CA1430250772 | OPA1 | c.1860T= (p.Asp620=) c.1695T= (p.Asp565=) c.1806T= (p.Asp602=) c.1749T= (p.Asp583=) c.1634T= c.1377T= (p.Asp459=) c.*1776T= (n.*1776T=) c.1282T= c.*179T= (n.*179T=) c.1664T= c.1710T= (p.Asp570=) c.*1173T= (n.*1173T=) c.*296T= (n.*296T=) c.683T= c.1587T= (p.Asp529=) c.1698T= (p.Asp566=) c.1752T= (p.Asp584=) n.193T= c.1641T= (p.Asp547=) c.1326T= (p.Asp442=) c.1323T= (p.Asp441=) n.2089T= n.1924T= | |
3 | g.193647171A= | CA1430250778 | OPA1 | c.1861A= (p.Ser621=) c.1696A= (p.Ser566=) c.1807A= (p.Ser603=) c.1750A= (p.Ser584=) c.1635A= c.1378A= (p.Ser460=) c.*1777A= (n.*1777A=) c.1283A= c.*180A= (n.*180A=) c.1665A= c.1711A= (p.Ser571=) c.*1174A= (n.*1174A=) c.*297A= (n.*297A=) c.684A= c.1588A= (p.Ser530=) c.1699A= (p.Ser567=) c.1753A= (p.Ser585=) n.194A= c.1642A= (p.Ser548=) c.1327A= (p.Ser443=) c.1324A= (p.Ser442=) n.2090A= n.1925A= | |
3 | g.193647171A>C | CA355790583 | OPA1 | c.1861A>C (p.Ser621Arg) c.1696A>C (p.Ser566Arg) c.1807A>C (p.Ser603Arg) c.1750A>C (p.Ser584Arg) c.1635A>C c.1378A>C (p.Ser460Arg) c.*1777A>C (n.*1777A>C) c.1283A>C c.*180A>C (n.*180A>C) c.1665A>C c.1711A>C (p.Ser571Arg) c.*1174A>C (n.*1174A>C) c.*297A>C (n.*297A>C) c.684A>C c.1588A>C (p.Ser530Arg) c.1699A>C (p.Ser567Arg) c.1753A>C (p.Ser585Arg) n.194A>C c.1642A>C (p.Ser548Arg) c.1327A>C (p.Ser443Arg) c.1324A>C (p.Ser442Arg) n.2090A>C n.1925A>C | |
3 | g.193647171A>G | CA2759499 | OPA1 | c.1861A>G (p.Ser621Gly) c.1696A>G (p.Ser566Gly) c.1807A>G (p.Ser603Gly) c.1750A>G (p.Ser584Gly) c.1635A>G c.1378A>G (p.Ser460Gly) c.*1777A>G (n.*1777A>G) c.1283A>G c.*180A>G (n.*180A>G) c.1665A>G c.1711A>G (p.Ser571Gly) c.*1174A>G (n.*1174A>G) c.*297A>G (n.*297A>G) c.684A>G c.1588A>G (p.Ser530Gly) c.1699A>G (p.Ser567Gly) c.1753A>G (p.Ser585Gly) n.194A>G c.1642A>G (p.Ser548Gly) c.1327A>G (p.Ser443Gly) c.1324A>G (p.Ser442Gly) n.2090A>G n.1925A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.193647171A>T | CA355790584 | OPA1 | c.1861A>T (p.Ser621Cys) c.1696A>T (p.Ser566Cys) c.1807A>T (p.Ser603Cys) c.1750A>T (p.Ser584Cys) c.1635A>T c.1378A>T (p.Ser460Cys) c.*1777A>T (n.*1777A>T) c.1283A>T c.*180A>T (n.*180A>T) c.1665A>T c.1711A>T (p.Ser571Cys) c.*1174A>T (n.*1174A>T) c.*297A>T (n.*297A>T) c.684A>T c.1588A>T (p.Ser530Cys) c.1699A>T (p.Ser567Cys) c.1753A>T (p.Ser585Cys) n.194A>T c.1642A>T (p.Ser548Cys) c.1327A>T (p.Ser443Cys) c.1324A>T (p.Ser442Cys) n.2090A>T n.1925A>T | |
3 | g.193647172G>A | CA355790587 | OPA1 | c.1862G>A (p.Ser621Asn) c.1697G>A (p.Ser566Asn) c.1808G>A (p.Ser603Asn) c.1751G>A (p.Ser584Asn) c.1636G>A c.1379G>A (p.Ser460Asn) c.*1778G>A (n.*1778G>A) c.1284G>A c.*181G>A (n.*181G>A) c.1666G>A c.1712G>A (p.Ser571Asn) c.*1175G>A (n.*1175G>A) c.*298G>A (n.*298G>A) c.685G>A c.1589G>A (p.Ser530Asn) c.1700G>A (p.Ser567Asn) c.1754G>A (p.Ser585Asn) n.195G>A c.1643G>A (p.Ser548Asn) c.1328G>A (p.Ser443Asn) c.1325G>A (p.Ser442Asn) n.2091G>A n.1926G>A | |
3 | g.193647172G>C | CA355790586 | OPA1 | c.1862G>C (p.Ser621Thr) c.1697G>C (p.Ser566Thr) c.1808G>C (p.Ser603Thr) c.1751G>C (p.Ser584Thr) c.1636G>C c.1379G>C (p.Ser460Thr) c.*1778G>C (n.*1778G>C) c.1284G>C c.*181G>C (n.*181G>C) c.1666G>C c.1712G>C (p.Ser571Thr) c.*1175G>C (n.*1175G>C) c.*298G>C (n.*298G>C) c.685G>C c.1589G>C (p.Ser530Thr) c.1700G>C (p.Ser567Thr) c.1754G>C (p.Ser585Thr) n.195G>C c.1643G>C (p.Ser548Thr) c.1328G>C (p.Ser443Thr) c.1325G>C (p.Ser442Thr) n.2091G>C n.1926G>C | |
3 | g.193647172G>T | CA355790585 | OPA1 | c.1862G>T (p.Ser621Ile) c.1697G>T (p.Ser566Ile) c.1808G>T (p.Ser603Ile) c.1751G>T (p.Ser584Ile) c.1636G>T c.1379G>T (p.Ser460Ile) c.*1778G>T (n.*1778G>T) c.1284G>T c.*181G>T (n.*181G>T) c.1666G>T c.1712G>T (p.Ser571Ile) c.*1175G>T (n.*1175G>T) c.*298G>T (n.*298G>T) c.685G>T c.1589G>T (p.Ser530Ile) c.1700G>T (p.Ser567Ile) c.1754G>T (p.Ser585Ile) n.195G>T c.1643G>T (p.Ser548Ile) c.1328G>T (p.Ser443Ile) c.1325G>T (p.Ser442Ile) n.2091G>T n.1926G>T | |
3 | g.193647173T>A | CA355790588 | OPA1 | c.1863T>A (p.Ser621Arg) c.1698T>A (p.Ser566Arg) c.1809T>A (p.Ser603Arg) c.1752T>A (p.Ser584Arg) c.1637T>A c.1380T>A (p.Ser460Arg) c.*1779T>A (n.*1779T>A) c.1285T>A c.*182T>A (n.*182T>A) c.1667T>A c.1713T>A (p.Ser571Arg) c.*1176T>A (n.*1176T>A) c.*299T>A (n.*299T>A) c.686T>A c.1590T>A (p.Ser530Arg) c.1701T>A (p.Ser567Arg) c.1755T>A (p.Ser585Arg) n.196T>A c.1644T>A (p.Ser548Arg) c.1329T>A (p.Ser443Arg) c.1326T>A (p.Ser442Arg) n.2092T>A n.1927T>A | |
3 | g.193647173T>C | CA437437559 | OPA1 | c.1863T>C (p.Ser621=) c.1698T>C (p.Ser566=) c.1809T>C (p.Ser603=) c.1752T>C (p.Ser584=) c.1637T>C c.1380T>C (p.Ser460=) c.*1779T>C (n.*1779T>C) c.1285T>C c.*182T>C (n.*182T>C) c.1667T>C c.1713T>C (p.Ser571=) c.*1176T>C (n.*1176T>C) c.*299T>C (n.*299T>C) c.686T>C c.1590T>C (p.Ser530=) c.1701T>C (p.Ser567=) c.1755T>C (p.Ser585=) n.196T>C c.1644T>C (p.Ser548=) c.1329T>C (p.Ser443=) c.1326T>C (p.Ser442=) n.2092T>C n.1927T>C | |
3 | g.193647173T>G | CA355790589 | OPA1 | c.1863T>G (p.Ser621Arg) c.1698T>G (p.Ser566Arg) c.1809T>G (p.Ser603Arg) c.1752T>G (p.Ser584Arg) c.1637T>G c.1380T>G (p.Ser460Arg) c.*1779T>G (n.*1779T>G) c.1285T>G c.*182T>G (n.*182T>G) c.1667T>G c.1713T>G (p.Ser571Arg) c.*1176T>G (n.*1176T>G) c.*299T>G (n.*299T>G) c.686T>G c.1590T>G (p.Ser530Arg) c.1701T>G (p.Ser567Arg) c.1755T>G (p.Ser585Arg) n.196T>G c.1644T>G (p.Ser548Arg) c.1329T>G (p.Ser443Arg) c.1326T>G (p.Ser442Arg) n.2092T>G n.1927T>G | |
3 | g.193647174T>A | CA355790590 | OPA1 | c.1864T>A (p.Phe622Ile) c.1699T>A (p.Phe567Ile) c.1810T>A (p.Phe604Ile) c.1753T>A (p.Phe585Ile) c.1638T>A c.1381T>A (p.Phe461Ile) c.*1780T>A (n.*1780T>A) c.1286T>A c.*183T>A (n.*183T>A) c.1668T>A c.1714T>A (p.Phe572Ile) c.*1177T>A (n.*1177T>A) c.*300T>A (n.*300T>A) c.687T>A c.1591T>A (p.Phe531Ile) c.1702T>A (p.Phe568Ile) c.1756T>A (p.Phe586Ile) n.197T>A c.1645T>A (p.Phe549Ile) c.1330T>A (p.Phe444Ile) c.1327T>A (p.Phe443Ile) n.2093T>A n.1928T>A | |
3 | g.193647174T>C | CA355790591 | OPA1 | c.1864T>C (p.Phe622Leu) c.1699T>C (p.Phe567Leu) c.1810T>C (p.Phe604Leu) c.1753T>C (p.Phe585Leu) c.1638T>C c.1381T>C (p.Phe461Leu) c.*1780T>C (n.*1780T>C) c.1286T>C c.*183T>C (n.*183T>C) c.1668T>C c.1714T>C (p.Phe572Leu) c.*1177T>C (n.*1177T>C) c.*300T>C (n.*300T>C) c.687T>C c.1591T>C (p.Phe531Leu) c.1702T>C (p.Phe568Leu) c.1756T>C (p.Phe586Leu) n.197T>C c.1645T>C (p.Phe549Leu) c.1330T>C (p.Phe444Leu) c.1327T>C (p.Phe443Leu) n.2093T>C n.1928T>C | gnomAD v4 |
3 | g.193647174T>G | CA355790592 | OPA1 | c.1864T>G (p.Phe622Val) c.1699T>G (p.Phe567Val) c.1810T>G (p.Phe604Val) c.1753T>G (p.Phe585Val) c.1638T>G c.1381T>G (p.Phe461Val) c.*1780T>G (n.*1780T>G) c.1286T>G c.*183T>G (n.*183T>G) c.1668T>G c.1714T>G (p.Phe572Val) c.*1177T>G (n.*1177T>G) c.*300T>G (n.*300T>G) c.687T>G c.1591T>G (p.Phe531Val) c.1702T>G (p.Phe568Val) c.1756T>G (p.Phe586Val) n.197T>G c.1645T>G (p.Phe549Val) c.1330T>G (p.Phe444Val) c.1327T>G (p.Phe443Val) n.2093T>G n.1928T>G | |
3 | g.193647175T>A | CA355790593 | OPA1 | c.1865T>A (p.Phe622Tyr) c.1700T>A (p.Phe567Tyr) c.1811T>A (p.Phe604Tyr) c.1754T>A (p.Phe585Tyr) c.1639T>A c.1382T>A (p.Phe461Tyr) c.*1781T>A (n.*1781T>A) c.1287T>A c.*184T>A (n.*184T>A) c.1669T>A c.1715T>A (p.Phe572Tyr) c.*1178T>A (n.*1178T>A) c.*301T>A (n.*301T>A) c.688T>A c.1592T>A (p.Phe531Tyr) c.1703T>A (p.Phe568Tyr) c.1757T>A (p.Phe586Tyr) n.198T>A c.1646T>A (p.Phe549Tyr) c.1331T>A (p.Phe444Tyr) c.1328T>A (p.Phe443Tyr) n.2094T>A n.1929T>A | |
3 | g.193647175T>C | CA355790594 | OPA1 | c.1865T>C (p.Phe622Ser) c.1700T>C (p.Phe567Ser) c.1811T>C (p.Phe604Ser) c.1754T>C (p.Phe585Ser) c.1639T>C c.1382T>C (p.Phe461Ser) c.*1781T>C (n.*1781T>C) c.1287T>C c.*184T>C (n.*184T>C) c.1669T>C c.1715T>C (p.Phe572Ser) c.*1178T>C (n.*1178T>C) c.*301T>C (n.*301T>C) c.688T>C c.1592T>C (p.Phe531Ser) c.1703T>C (p.Phe568Ser) c.1757T>C (p.Phe586Ser) n.198T>C c.1646T>C (p.Phe549Ser) c.1331T>C (p.Phe444Ser) c.1328T>C (p.Phe443Ser) n.2094T>C n.1929T>C | |
3 | g.193647175T>G | CA355790595 | OPA1 | c.1865T>G (p.Phe622Cys) c.1700T>G (p.Phe567Cys) c.1811T>G (p.Phe604Cys) c.1754T>G (p.Phe585Cys) c.1639T>G c.1382T>G (p.Phe461Cys) c.*1781T>G (n.*1781T>G) c.1287T>G c.*184T>G (n.*184T>G) c.1669T>G c.1715T>G (p.Phe572Cys) c.*1178T>G (n.*1178T>G) c.*301T>G (n.*301T>G) c.688T>G c.1592T>G (p.Phe531Cys) c.1703T>G (p.Phe568Cys) c.1757T>G (p.Phe586Cys) n.198T>G c.1646T>G (p.Phe549Cys) c.1331T>G (p.Phe444Cys) c.1328T>G (p.Phe443Cys) n.2094T>G n.1929T>G | |
3 | g.193647176C>A | CA355790596 | OPA1 | c.1866C>A (p.Phe622Leu) c.1701C>A (p.Phe567Leu) c.1812C>A (p.Phe604Leu) c.1755C>A (p.Phe585Leu) c.1640C>A c.1383C>A (p.Phe461Leu) c.*1782C>A (n.*1782C>A) c.1288C>A c.*185C>A (n.*185C>A) c.1670C>A c.1716C>A (p.Phe572Leu) c.*1179C>A (n.*1179C>A) c.*302C>A (n.*302C>A) c.689C>A c.1593C>A (p.Phe531Leu) c.1704C>A (p.Phe568Leu) c.1758C>A (p.Phe586Leu) n.199C>A c.1647C>A (p.Phe549Leu) c.1332C>A (p.Phe444Leu) c.1329C>A (p.Phe443Leu) n.2095C>A n.1930C>A | gnomAD v4 COSMIC |
3 | g.193647176C>G | CA355790597 | OPA1 | c.1866C>G (p.Phe622Leu) c.1701C>G (p.Phe567Leu) c.1812C>G (p.Phe604Leu) c.1755C>G (p.Phe585Leu) c.1640C>G c.1383C>G (p.Phe461Leu) c.*1782C>G (n.*1782C>G) c.1288C>G c.*185C>G (n.*185C>G) c.1670C>G c.1716C>G (p.Phe572Leu) c.*1179C>G (n.*1179C>G) c.*302C>G (n.*302C>G) c.689C>G c.1593C>G (p.Phe531Leu) c.1704C>G (p.Phe568Leu) c.1758C>G (p.Phe586Leu) n.199C>G c.1647C>G (p.Phe549Leu) c.1332C>G (p.Phe444Leu) c.1329C>G (p.Phe443Leu) n.2095C>G n.1930C>G | |
3 | g.193647176C>T | CA437437561 | OPA1 | c.1866C>T (p.Phe622=) c.1701C>T (p.Phe567=) c.1812C>T (p.Phe604=) c.1755C>T (p.Phe585=) c.1640C>T c.1383C>T (p.Phe461=) c.*1782C>T (n.*1782C>T) c.1288C>T c.*185C>T (n.*185C>T) c.1670C>T c.1716C>T (p.Phe572=) c.*1179C>T (n.*1179C>T) c.*302C>T (n.*302C>T) c.689C>T c.1593C>T (p.Phe531=) c.1704C>T (p.Phe568=) c.1758C>T (p.Phe586=) n.199C>T c.1647C>T (p.Phe549=) c.1332C>T (p.Phe444=) c.1329C>T (p.Phe443=) n.2095C>T n.1930C>T | |
3 | g.193647177A>C | CA355790598 | OPA1 | c.1867A>C (p.Lys623Gln) c.1702A>C (p.Lys568Gln) c.1813A>C (p.Lys605Gln) c.1756A>C (p.Lys586Gln) c.1641A>C c.1384A>C (p.Lys462Gln) c.*1783A>C (n.*1783A>C) c.1289A>C c.*186A>C (n.*186A>C) c.1671A>C c.1717A>C (p.Lys573Gln) c.*1180A>C (n.*1180A>C) c.*303A>C (n.*303A>C) c.690A>C c.1594A>C (p.Lys532Gln) c.1705A>C (p.Lys569Gln) c.1759A>C (p.Lys587Gln) n.200A>C c.1648A>C (p.Lys550Gln) c.1333A>C (p.Lys445Gln) c.1330A>C (p.Lys444Gln) n.2096A>C n.1931A>C | |
3 | g.193647177A>G | CA355790599 | OPA1 | c.1867A>G (p.Lys623Glu) c.1702A>G (p.Lys568Glu) c.1813A>G (p.Lys605Glu) c.1756A>G (p.Lys586Glu) c.1641A>G c.1384A>G (p.Lys462Glu) c.*1783A>G (n.*1783A>G) c.1289A>G c.*186A>G (n.*186A>G) c.1671A>G c.1717A>G (p.Lys573Glu) c.*1180A>G (n.*1180A>G) c.*303A>G (n.*303A>G) c.690A>G c.1594A>G (p.Lys532Glu) c.1705A>G (p.Lys569Glu) c.1759A>G (p.Lys587Glu) n.200A>G c.1648A>G (p.Lys550Glu) c.1333A>G (p.Lys445Glu) c.1330A>G (p.Lys444Glu) n.2096A>G n.1931A>G | |
3 | g.193647177A>T | CA355790600 | OPA1 | c.1867A>T (p.Lys623Ter) c.1702A>T (p.Lys568Ter) c.1813A>T (p.Lys605Ter) c.1756A>T (p.Lys586Ter) c.1641A>T c.1384A>T (p.Lys462Ter) c.*1783A>T (n.*1783A>T) c.1289A>T c.*186A>T (n.*186A>T) c.1671A>T c.1717A>T (p.Lys573Ter) c.*1180A>T (n.*1180A>T) c.*303A>T (n.*303A>T) c.690A>T c.1594A>T (p.Lys532Ter) c.1705A>T (p.Lys569Ter) c.1759A>T (p.Lys587Ter) n.200A>T c.1648A>T (p.Lys550Ter) c.1333A>T (p.Lys445Ter) c.1330A>T (p.Lys444Ter) n.2096A>T n.1931A>T | |
3 | g.193647178A= | CA1430250781 | OPA1 | c.1868A= (p.Lys623=) c.1703A= (p.Lys568=) c.1814A= (p.Lys605=) c.1757A= (p.Lys586=) c.1642A= c.1385A= (p.Lys462=) c.*1784A= (n.*1784A=) c.1290A= c.*187A= (n.*187A=) c.1672A= c.1718A= (p.Lys573=) c.*1181A= (n.*1181A=) c.*304A= (n.*304A=) c.691A= c.1595A= (p.Lys532=) c.1706A= (p.Lys569=) c.1760A= (p.Lys587=) n.201A= c.1649A= (p.Lys550=) c.1334A= (p.Lys445=) c.1331A= (p.Lys444=) n.2097A= n.1932A= | |
3 | g.193647178A>C | CA355790601 | OPA1 | c.1868A>C (p.Lys623Thr) c.1703A>C (p.Lys568Thr) c.1814A>C (p.Lys605Thr) c.1757A>C (p.Lys586Thr) c.1642A>C c.1385A>C (p.Lys462Thr) c.*1784A>C (n.*1784A>C) c.1290A>C c.*187A>C (n.*187A>C) c.1672A>C c.1718A>C (p.Lys573Thr) c.*1181A>C (n.*1181A>C) c.*304A>C (n.*304A>C) c.691A>C c.1595A>C (p.Lys532Thr) c.1706A>C (p.Lys569Thr) c.1760A>C (p.Lys587Thr) n.201A>C c.1649A>C (p.Lys550Thr) c.1334A>C (p.Lys445Thr) c.1331A>C (p.Lys444Thr) n.2097A>C n.1932A>C | |
3 | g.193647178A>G | CA355790602 | OPA1 | c.1868A>G (p.Lys623Arg) c.1703A>G (p.Lys568Arg) c.1814A>G (p.Lys605Arg) c.1757A>G (p.Lys586Arg) c.1642A>G c.1385A>G (p.Lys462Arg) c.*1784A>G (n.*1784A>G) c.1290A>G c.*187A>G (n.*187A>G) c.1672A>G c.1718A>G (p.Lys573Arg) c.*1181A>G (n.*1181A>G) c.*304A>G (n.*304A>G) c.691A>G c.1595A>G (p.Lys532Arg) c.1706A>G (p.Lys569Arg) c.1760A>G (p.Lys587Arg) n.201A>G c.1649A>G (p.Lys550Arg) c.1334A>G (p.Lys445Arg) c.1331A>G (p.Lys444Arg) n.2097A>G n.1932A>G | ClinVar dbSNP |
3 | g.193647178A>T | CA355790603 | OPA1 | c.1868A>T (p.Lys623Ile) c.1703A>T (p.Lys568Ile) c.1814A>T (p.Lys605Ile) c.1757A>T (p.Lys586Ile) c.1642A>T c.1385A>T (p.Lys462Ile) c.*1784A>T (n.*1784A>T) c.1290A>T c.*187A>T (n.*187A>T) c.1672A>T c.1718A>T (p.Lys573Ile) c.*1181A>T (n.*1181A>T) c.*304A>T (n.*304A>T) c.691A>T c.1595A>T (p.Lys532Ile) c.1706A>T (p.Lys569Ile) c.1760A>T (p.Lys587Ile) n.201A>T c.1649A>T (p.Lys550Ile) c.1334A>T (p.Lys445Ile) c.1331A>T (p.Lys444Ile) n.2097A>T n.1932A>T | |
3 | g.193647179A>C | CA355790604 | OPA1 | c.1869A>C (p.Lys623Asn) c.1704A>C (p.Lys568Asn) c.1815A>C (p.Lys605Asn) c.1758A>C (p.Lys586Asn) c.1643A>C c.1386A>C (p.Lys462Asn) c.*1785A>C (n.*1785A>C) c.1291A>C c.*188A>C (n.*188A>C) c.1673A>C c.1719A>C (p.Lys573Asn) c.*1182A>C (n.*1182A>C) c.*305A>C (n.*305A>C) c.692A>C c.1596A>C (p.Lys532Asn) c.1707A>C (p.Lys569Asn) c.1761A>C (p.Lys587Asn) n.202A>C c.1650A>C (p.Lys550Asn) c.1335A>C (p.Lys445Asn) c.1332A>C (p.Lys444Asn) n.2098A>C n.1933A>C | |
3 | g.193647179A>G | CA437437562 | OPA1 | c.1869A>G (p.Lys623=) c.1704A>G (p.Lys568=) c.1815A>G (p.Lys605=) c.1758A>G (p.Lys586=) c.1643A>G c.1386A>G (p.Lys462=) c.*1785A>G (n.*1785A>G) c.1291A>G c.*188A>G (n.*188A>G) c.1673A>G c.1719A>G (p.Lys573=) c.*1182A>G (n.*1182A>G) c.*305A>G (n.*305A>G) c.692A>G c.1596A>G (p.Lys532=) c.1707A>G (p.Lys569=) c.1761A>G (p.Lys587=) n.202A>G c.1650A>G (p.Lys550=) c.1335A>G (p.Lys445=) c.1332A>G (p.Lys444=) n.2098A>G n.1933A>G | |
3 | g.193647179A>T | CA355790605 | OPA1 | c.1869A>T (p.Lys623Asn) c.1704A>T (p.Lys568Asn) c.1815A>T (p.Lys605Asn) c.1758A>T (p.Lys586Asn) c.1643A>T c.1386A>T (p.Lys462Asn) c.*1785A>T (n.*1785A>T) c.1291A>T c.*188A>T (n.*188A>T) c.1673A>T c.1719A>T (p.Lys573Asn) c.*1182A>T (n.*1182A>T) c.*305A>T (n.*305A>T) c.692A>T c.1596A>T (p.Lys532Asn) c.1707A>T (p.Lys569Asn) c.1761A>T (p.Lys587Asn) n.202A>T c.1650A>T (p.Lys550Asn) c.1335A>T (p.Lys445Asn) c.1332A>T (p.Lys444Asn) n.2098A>T n.1933A>T | |
3 | g.193647180G>A | CA355790606 | OPA1 | c.1870G>A (p.Ala624Thr) c.1705G>A (p.Ala569Thr) c.1816G>A (p.Ala606Thr) c.1759G>A (p.Ala587Thr) c.1644G>A c.1705G>A (p.Glu569Lys) c.1387G>A (p.Ala463Thr) c.*1786G>A (n.*1786G>A) c.1292G>A c.*189G>A (n.*189G>A) c.1674G>A c.1720G>A (p.Ala574Thr) c.*1183G>A (n.*1183G>A) c.*306G>A (n.*306G>A) c.693G>A c.1597G>A (p.Ala533Thr) c.1708G>A (p.Ala570Thr) c.1762G>A (p.Ala588Thr) n.203G>A c.1651G>A (p.Ala551Thr) c.1336G>A (p.Ala446Thr) c.1333G>A (p.Ala445Thr) n.2099G>A n.1934G>A | |
3 | g.193647180G>C | CA355790607 | OPA1 | c.1870G>C (p.Ala624Pro) c.1705G>C (p.Ala569Pro) c.1816G>C (p.Ala606Pro) c.1759G>C (p.Ala587Pro) c.1644G>C c.1705G>C (p.Glu569Gln) c.1387G>C (p.Ala463Pro) c.*1786G>C (n.*1786G>C) c.1292G>C c.*189G>C (n.*189G>C) c.1674G>C c.1720G>C (p.Ala574Pro) c.*1183G>C (n.*1183G>C) c.*306G>C (n.*306G>C) c.693G>C c.1597G>C (p.Ala533Pro) c.1708G>C (p.Ala570Pro) c.1762G>C (p.Ala588Pro) n.203G>C c.1651G>C (p.Ala551Pro) c.1336G>C (p.Ala446Pro) c.1333G>C (p.Ala445Pro) n.2099G>C n.1934G>C | |
3 | g.193647180G>T | CA355790608 | OPA1 | c.1870G>T (p.Ala624Ser) c.1705G>T (p.Ala569Ser) c.1816G>T (p.Ala606Ser) c.1759G>T (p.Ala587Ser) c.1644G>T c.1705G>T (p.Glu569Ter) c.1387G>T (p.Ala463Ser) c.*1786G>T (n.*1786G>T) c.1292G>T c.*189G>T (n.*189G>T) c.1674G>T c.1720G>T (p.Ala574Ser) c.*1183G>T (n.*1183G>T) c.*306G>T (n.*306G>T) c.693G>T c.1597G>T (p.Ala533Ser) c.1708G>T (p.Ala570Ser) c.1762G>T (p.Ala588Ser) n.203G>T c.1651G>T (p.Ala551Ser) c.1336G>T (p.Ala446Ser) c.1333G>T (p.Ala445Ser) n.2099G>T n.1934G>T | |
3 | g.193647180_193647181insCAACAC | CA2704972911 | OPA1 | c.1870_1870+1insCAACAC (n.1870_1870+1insCAACAC) c.1705_1705+1insCAACAC (n.1705_1705+1insCAACAC) c.1816_1816+1insCAACAC (n.1816_1816+1insCAACAC) c.1759_1759+1insCAACAC (n.1759_1759+1insCAACAC) c.1644_1644+1insCAACAC c.1387_1387+1insCAACAC (n.1387_1387+1insCAACAC) c.*1786_*1786+1insCAACAC (n.*1786_*1786+1insCAACAC) c.1292_1292+1insCAACAC c.*189_*189+1insCAACAC (n.*189_*189+1insCAACAC) c.1674_1674+1insCAACAC c.1720_1720+1insCAACAC (n.1720_1720+1insCAACAC) c.*1183_*1183+1insCAACAC (n.*1183_*1183+1insCAACAC) c.*306_*306+1insCAACAC (n.*306_*306+1insCAACAC) c.693_693+1insCAACAC c.1597_1597+1insCAACAC (n.1597_1597+1insCAACAC) c.1708_1708+1insCAACAC (n.1708_1708+1insCAACAC) c.1762_1762+1insCAACAC (n.1762_1762+1insCAACAC) n.203_203+1insCAACAC c.1651_1651+1insCAACAC (n.1651_1651+1insCAACAC) c.1336_1336+1insCAACAC (n.1336_1336+1insCAACAC) c.1333_1333+1insCAACAC (n.1333_1333+1insCAACAC) n.2099_2099+1insCAACAC n.1934_1934+1insCAACAC | dbSNP |
3 | g.193647181G>A | CA355790609 | OPA1 | c.1870+1G>A (n.1870+1G>A) c.1705+1G>A (n.1705+1G>A) c.1816+1G>A (n.1816+1G>A) c.1759+1G>A (n.1759+1G>A) c.1644+1G>A c.1387+1G>A (n.1387+1G>A) c.*1786+1G>A (n.*1786+1G>A) c.1292+1G>A c.*189+1G>A (n.*189+1G>A) c.1674+1G>A c.1720+1G>A (n.1720+1G>A) c.*1183+1G>A (n.*1183+1G>A) c.*306+1G>A (n.*306+1G>A) c.693+1G>A c.1597+1G>A (n.1597+1G>A) c.1708+1G>A (n.1708+1G>A) c.1762+1G>A (n.1762+1G>A) n.203+1G>A c.1651+1G>A (n.1651+1G>A) c.1336+1G>A (n.1336+1G>A) c.1333+1G>A (n.1333+1G>A) n.2099+1G>A n.1934+1G>A | |
3 | g.193647181G>C | CA355790610 | OPA1 | c.1870+1G>C (n.1870+1G>C) c.1705+1G>C (n.1705+1G>C) c.1816+1G>C (n.1816+1G>C) c.1759+1G>C (n.1759+1G>C) c.1644+1G>C c.1387+1G>C (n.1387+1G>C) c.*1786+1G>C (n.*1786+1G>C) c.1292+1G>C c.*189+1G>C (n.*189+1G>C) c.1674+1G>C c.1720+1G>C (n.1720+1G>C) c.*1183+1G>C (n.*1183+1G>C) c.*306+1G>C (n.*306+1G>C) c.693+1G>C c.1597+1G>C (n.1597+1G>C) c.1708+1G>C (n.1708+1G>C) c.1762+1G>C (n.1762+1G>C) n.203+1G>C c.1651+1G>C (n.1651+1G>C) c.1336+1G>C (n.1336+1G>C) c.1333+1G>C (n.1333+1G>C) n.2099+1G>C n.1934+1G>C | ClinVar |
3 | g.193647181G= | CA1430250787 | OPA1 | c.1870+1G= (n.1870+1G=) c.1705+1G= (n.1705+1G=) c.1816+1G= (n.1816+1G=) c.1759+1G= (n.1759+1G=) c.1644+1G= c.1387+1G= (n.1387+1G=) c.*1786+1G= (n.*1786+1G=) c.1292+1G= c.*189+1G= (n.*189+1G=) c.1674+1G= c.1720+1G= (n.1720+1G=) c.*1183+1G= (n.*1183+1G=) c.*306+1G= (n.*306+1G=) c.693+1G= c.1597+1G= (n.1597+1G=) c.1708+1G= (n.1708+1G=) c.1762+1G= (n.1762+1G=) n.203+1G= c.1651+1G= (n.1651+1G=) c.1336+1G= (n.1336+1G=) c.1333+1G= (n.1333+1G=) n.2099+1G= n.1934+1G= | |
3 | g.193647181G>T | CA10576007 | OPA1 | c.1870+1G>T (n.1870+1G>T) c.1705+1G>T (n.1705+1G>T) c.1816+1G>T (n.1816+1G>T) c.1759+1G>T (n.1759+1G>T) c.1644+1G>T c.1387+1G>T (n.1387+1G>T) c.*1786+1G>T (n.*1786+1G>T) c.1292+1G>T c.*189+1G>T (n.*189+1G>T) c.1674+1G>T c.1720+1G>T (n.1720+1G>T) c.*1183+1G>T (n.*1183+1G>T) c.*306+1G>T (n.*306+1G>T) c.693+1G>T c.1597+1G>T (n.1597+1G>T) c.1708+1G>T (n.1708+1G>T) c.1762+1G>T (n.1762+1G>T) n.203+1G>T c.1651+1G>T (n.1651+1G>T) c.1336+1G>T (n.1336+1G>T) c.1333+1G>T (n.1333+1G>T) n.2099+1G>T n.1934+1G>T | ClinVar dbSNP |
3 | g.193647182T>A | CA355790611 | OPA1 | c.1870+2T>A (n.1870+2T>A) c.1705+2T>A (n.1705+2T>A) c.1816+2T>A (n.1816+2T>A) c.1759+2T>A (n.1759+2T>A) c.1644+2T>A c.1387+2T>A (n.1387+2T>A) c.*1786+2T>A (n.*1786+2T>A) c.1292+2T>A c.*189+2T>A (n.*189+2T>A) c.1674+2T>A c.1720+2T>A (n.1720+2T>A) c.*1183+2T>A (n.*1183+2T>A) c.*306+2T>A (n.*306+2T>A) c.693+2T>A c.1597+2T>A (n.1597+2T>A) c.1708+2T>A (n.1708+2T>A) c.1762+2T>A (n.1762+2T>A) n.203+2T>A c.1651+2T>A (n.1651+2T>A) c.1336+2T>A (n.1336+2T>A) c.1333+2T>A (n.1333+2T>A) n.2099+2T>A n.1934+2T>A | |
3 | g.193647182T>C | CA355790612 | OPA1 | c.1870+2T>C (n.1870+2T>C) c.1705+2T>C (n.1705+2T>C) c.1816+2T>C (n.1816+2T>C) c.1759+2T>C (n.1759+2T>C) c.1644+2T>C c.1387+2T>C (n.1387+2T>C) c.*1786+2T>C (n.*1786+2T>C) c.1292+2T>C c.*189+2T>C (n.*189+2T>C) c.1674+2T>C c.1720+2T>C (n.1720+2T>C) c.*1183+2T>C (n.*1183+2T>C) c.*306+2T>C (n.*306+2T>C) c.693+2T>C c.1597+2T>C (n.1597+2T>C) c.1708+2T>C (n.1708+2T>C) c.1762+2T>C (n.1762+2T>C) n.203+2T>C c.1651+2T>C (n.1651+2T>C) c.1336+2T>C (n.1336+2T>C) c.1333+2T>C (n.1333+2T>C) n.2099+2T>C n.1934+2T>C | |
3 | g.193647182T>G | CA355790613 | OPA1 | c.1870+2T>G (n.1870+2T>G) c.1705+2T>G (n.1705+2T>G) c.1816+2T>G (n.1816+2T>G) c.1759+2T>G (n.1759+2T>G) c.1644+2T>G c.1387+2T>G (n.1387+2T>G) c.*1786+2T>G (n.*1786+2T>G) c.1292+2T>G c.*189+2T>G (n.*189+2T>G) c.1674+2T>G c.1720+2T>G (n.1720+2T>G) c.*1183+2T>G (n.*1183+2T>G) c.*306+2T>G (n.*306+2T>G) c.693+2T>G c.1597+2T>G (n.1597+2T>G) c.1708+2T>G (n.1708+2T>G) c.1762+2T>G (n.1762+2T>G) n.203+2T>G c.1651+2T>G (n.1651+2T>G) c.1336+2T>G (n.1336+2T>G) c.1333+2T>G (n.1333+2T>G) n.2099+2T>G n.1934+2T>G | |
3 | g.193647182_193647183insTTTAACCTTGAAACTGAATGG | CA2704972967 | OPA1 | c.1870+2_1870+3insTTTAACCTTGAAACTGAATGG (n.1870+2_1870+3insTTTAACCTTGAAACTGAATGG) c.1705+2_1705+3insTTTAACCTTGAAACTGAATGG (n.1705+2_1705+3insTTTAACCTTGAAACTGAATGG) c.1816+2_1816+3insTTTAACCTTGAAACTGAATGG (n.1816+2_1816+3insTTTAACCTTGAAACTGAATGG) c.1759+2_1759+3insTTTAACCTTGAAACTGAATGG (n.1759+2_1759+3insTTTAACCTTGAAACTGAATGG) c.1644+2_1644+3insTTTAACCTTGAAACTGAATGG c.1387+2_1387+3insTTTAACCTTGAAACTGAATGG (n.1387+2_1387+3insTTTAACCTTGAAACTGAATGG) c.*1786+2_*1786+3insTTTAACCTTGAAACTGAATGG (n.*1786+2_*1786+3insTTTAACCTTGAAACTGAATGG) c.1292+2_1292+3insTTTAACCTTGAAACTGAATGG c.*189+2_*189+3insTTTAACCTTGAAACTGAATGG (n.*189+2_*189+3insTTTAACCTTGAAACTGAATGG) c.1674+2_1674+3insTTTAACCTTGAAACTGAATGG c.1720+2_1720+3insTTTAACCTTGAAACTGAATGG (n.1720+2_1720+3insTTTAACCTTGAAACTGAATGG) c.*1183+2_*1183+3insTTTAACCTTGAAACTGAATGG (n.*1183+2_*1183+3insTTTAACCTTGAAACTGAATGG) c.*306+2_*306+3insTTTAACCTTGAAACTGAATGG (n.*306+2_*306+3insTTTAACCTTGAAACTGAATGG) c.693+2_693+3insTTTAACCTTGAAACTGAATGG c.1597+2_1597+3insTTTAACCTTGAAACTGAATGG (n.1597+2_1597+3insTTTAACCTTGAAACTGAATGG) c.1708+2_1708+3insTTTAACCTTGAAACTGAATGG (n.1708+2_1708+3insTTTAACCTTGAAACTGAATGG) c.1762+2_1762+3insTTTAACCTTGAAACTGAATGG (n.1762+2_1762+3insTTTAACCTTGAAACTGAATGG) n.203+2_203+3insTTTAACCTTGAAACTGAATGG c.1651+2_1651+3insTTTAACCTTGAAACTGAATGG (n.1651+2_1651+3insTTTAACCTTGAAACTGAATGG) c.1336+2_1336+3insTTTAACCTTGAAACTGAATGG (n.1336+2_1336+3insTTTAACCTTGAAACTGAATGG) c.1333+2_1333+3insTTTAACCTTGAAACTGAATGG (n.1333+2_1333+3insTTTAACCTTGAAACTGAATGG) n.2099+2_2099+3insTTTAACCTTGAAACTGAATGG n.1934+2_1934+3insTTTAACCTTGAAACTGAATGG | dbSNP |
3 | g.193647183A= | CA1430250794 | OPA1 | c.1870+3A= (n.1870+3A=) c.1705+3A= (n.1705+3A=) c.1816+3A= (n.1816+3A=) c.1759+3A= (n.1759+3A=) c.1644+3A= c.1387+3A= (n.1387+3A=) c.*1786+3A= (n.*1786+3A=) c.1292+3A= c.*189+3A= (n.*189+3A=) c.1674+3A= c.1720+3A= (n.1720+3A=) c.*1183+3A= (n.*1183+3A=) c.*306+3A= (n.*306+3A=) c.693+3A= c.1597+3A= (n.1597+3A=) c.1708+3A= (n.1708+3A=) c.1762+3A= (n.1762+3A=) n.203+3A= c.1651+3A= (n.1651+3A=) c.1336+3A= (n.1336+3A=) c.1333+3A= (n.1333+3A=) n.2099+3A= n.1934+3A= | |
3 | g.193647183A>G | CA90536282 | OPA1 | c.1870+3A>G (n.1870+3A>G) c.1705+3A>G (n.1705+3A>G) c.1816+3A>G (n.1816+3A>G) c.1759+3A>G (n.1759+3A>G) c.1644+3A>G c.1387+3A>G (n.1387+3A>G) c.*1786+3A>G (n.*1786+3A>G) c.1292+3A>G c.*189+3A>G (n.*189+3A>G) c.1674+3A>G c.1720+3A>G (n.1720+3A>G) c.*1183+3A>G (n.*1183+3A>G) c.*306+3A>G (n.*306+3A>G) c.693+3A>G c.1597+3A>G (n.1597+3A>G) c.1708+3A>G (n.1708+3A>G) c.1762+3A>G (n.1762+3A>G) n.203+3A>G c.1651+3A>G (n.1651+3A>G) c.1336+3A>G (n.1336+3A>G) c.1333+3A>G (n.1333+3A>G) n.2099+3A>G n.1934+3A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.193647184A>T | CA2704972970 | OPA1 | c.1870+4A>T (n.1870+4A>T) c.1705+4A>T (n.1705+4A>T) c.1816+4A>T (n.1816+4A>T) c.1759+4A>T (n.1759+4A>T) c.1644+4A>T c.1387+4A>T (n.1387+4A>T) c.*1786+4A>T (n.*1786+4A>T) c.1292+4A>T c.*189+4A>T (n.*189+4A>T) c.1674+4A>T c.1720+4A>T (n.1720+4A>T) c.*1183+4A>T (n.*1183+4A>T) c.*306+4A>T (n.*306+4A>T) c.693+4A>T c.1597+4A>T (n.1597+4A>T) c.1708+4A>T (n.1708+4A>T) c.1762+4A>T (n.1762+4A>T) n.203+4A>T c.1651+4A>T (n.1651+4A>T) c.1336+4A>T (n.1336+4A>T) c.1333+4A>T (n.1333+4A>T) n.2099+4A>T n.1934+4A>T | dbSNP |
3 | g.193647185G>C | CA2759500 | OPA1 | c.1870+5G>C (n.1870+5G>C) c.1705+5G>C (n.1705+5G>C) c.1816+5G>C (n.1816+5G>C) c.1759+5G>C (n.1759+5G>C) c.1644+5G>C c.1387+5G>C (n.1387+5G>C) c.*1786+5G>C (n.*1786+5G>C) c.1292+5G>C c.*189+5G>C (n.*189+5G>C) c.1674+5G>C c.1720+5G>C (n.1720+5G>C) c.*1183+5G>C (n.*1183+5G>C) c.*306+5G>C (n.*306+5G>C) c.693+5G>C c.1597+5G>C (n.1597+5G>C) c.1708+5G>C (n.1708+5G>C) c.1762+5G>C (n.1762+5G>C) n.203+5G>C c.1651+5G>C (n.1651+5G>C) c.1336+5G>C (n.1336+5G>C) c.1333+5G>C (n.1333+5G>C) n.2099+5G>C n.1934+5G>C | dbSNP ExAC gnomAD v2 |
3 | g.193647185G= | CA1430250800 | OPA1 | c.1870+5G= (n.1870+5G=) c.1705+5G= (n.1705+5G=) c.1816+5G= (n.1816+5G=) c.1759+5G= (n.1759+5G=) c.1644+5G= c.1387+5G= (n.1387+5G=) c.*1786+5G= (n.*1786+5G=) c.1292+5G= c.*189+5G= (n.*189+5G=) c.1674+5G= c.1720+5G= (n.1720+5G=) c.*1183+5G= (n.*1183+5G=) c.*306+5G= (n.*306+5G=) c.693+5G= c.1597+5G= (n.1597+5G=) c.1708+5G= (n.1708+5G=) c.1762+5G= (n.1762+5G=) n.203+5G= c.1651+5G= (n.1651+5G=) c.1336+5G= (n.1336+5G=) c.1333+5G= (n.1333+5G=) n.2099+5G= n.1934+5G= | |
3 | g.193647186T>C | CA2669105966 | OPA1 | c.1870+6T>C (n.1870+6T>C) c.1705+6T>C (n.1705+6T>C) c.1816+6T>C (n.1816+6T>C) c.1759+6T>C (n.1759+6T>C) c.1644+6T>C c.1387+6T>C (n.1387+6T>C) c.*1786+6T>C (n.*1786+6T>C) c.1292+6T>C c.*189+6T>C (n.*189+6T>C) c.1674+6T>C c.1720+6T>C (n.1720+6T>C) c.*1183+6T>C (n.*1183+6T>C) c.*306+6T>C (n.*306+6T>C) c.693+6T>C c.1597+6T>C (n.1597+6T>C) c.1708+6T>C (n.1708+6T>C) c.1762+6T>C (n.1762+6T>C) n.203+6T>C c.1651+6T>C (n.1651+6T>C) c.1336+6T>C (n.1336+6T>C) c.1333+6T>C (n.1333+6T>C) n.2099+6T>C n.1934+6T>C | gnomAD v4 |
3 | g.193647189G>A | CA90536287 | OPA1 | c.1870+9G>A (n.1870+9G>A) c.1705+9G>A (n.1705+9G>A) c.1816+9G>A (n.1816+9G>A) c.1759+9G>A (n.1759+9G>A) c.1644+9G>A c.1387+9G>A (n.1387+9G>A) c.*1786+9G>A (n.*1786+9G>A) c.1292+9G>A c.*189+9G>A (n.*189+9G>A) c.1674+9G>A c.1720+9G>A (n.1720+9G>A) c.*1183+9G>A (n.*1183+9G>A) c.*306+9G>A (n.*306+9G>A) c.693+9G>A c.1597+9G>A (n.1597+9G>A) c.1708+9G>A (n.1708+9G>A) c.1762+9G>A (n.1762+9G>A) n.203+9G>A c.1651+9G>A (n.1651+9G>A) c.1336+9G>A (n.1336+9G>A) c.1333+9G>A (n.1333+9G>A) n.2099+9G>A n.1934+9G>A n.597C>T n.722C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.193647189G= | CA1430250803 | OPA1 | c.1870+9G= (n.1870+9G=) c.1705+9G= (n.1705+9G=) c.1816+9G= (n.1816+9G=) c.1759+9G= (n.1759+9G=) c.1644+9G= c.1387+9G= (n.1387+9G=) c.*1786+9G= (n.*1786+9G=) c.1292+9G= c.*189+9G= (n.*189+9G=) c.1674+9G= c.1720+9G= (n.1720+9G=) c.*1183+9G= (n.*1183+9G=) c.*306+9G= (n.*306+9G=) c.693+9G= c.1597+9G= (n.1597+9G=) c.1708+9G= (n.1708+9G=) c.1762+9G= (n.1762+9G=) n.203+9G= c.1651+9G= (n.1651+9G=) c.1336+9G= (n.1336+9G=) c.1333+9G= (n.1333+9G=) n.2099+9G= n.1934+9G= n.597C= n.722C= | |
3 | g.193647189G>T | CA2577995198 | OPA1 | c.1870+9G>T (n.1870+9G>T) c.1705+9G>T (n.1705+9G>T) c.1816+9G>T (n.1816+9G>T) c.1759+9G>T (n.1759+9G>T) c.1644+9G>T c.1387+9G>T (n.1387+9G>T) c.*1786+9G>T (n.*1786+9G>T) c.1292+9G>T c.*189+9G>T (n.*189+9G>T) c.1674+9G>T c.1720+9G>T (n.1720+9G>T) c.*1183+9G>T (n.*1183+9G>T) c.*306+9G>T (n.*306+9G>T) c.693+9G>T c.1597+9G>T (n.1597+9G>T) c.1708+9G>T (n.1708+9G>T) c.1762+9G>T (n.1762+9G>T) n.203+9G>T c.1651+9G>T (n.1651+9G>T) c.1336+9G>T (n.1336+9G>T) c.1333+9G>T (n.1333+9G>T) n.2099+9G>T n.1934+9G>T n.597C>A n.722C>A |