Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.206127836C>A | CA350043015 | NDUFS1 | c.1845G>T (p.Leu615Phe) c.1674G>T (p.Leu558Phe) c.1512G>T (p.Leu504Phe) c.1737G>T (p.Leu579Phe) c.1887G>T (p.Leu629Phe) c.1497G>T (p.Leu499Phe) n.317G>T c.1086G>T (p.Leu362Phe) | |
2 | g.206127836C>G | CA350043018 | NDUFS1 | c.1845G>C (p.Leu615Phe) c.1674G>C (p.Leu558Phe) c.1512G>C (p.Leu504Phe) c.1737G>C (p.Leu579Phe) c.1887G>C (p.Leu629Phe) c.1497G>C (p.Leu499Phe) n.317G>C c.1086G>C (p.Leu362Phe) | |
2 | g.206127836C>T | CA430942972 | NDUFS1 | c.1845G>A (p.Leu615=) c.1674G>A (p.Leu558=) c.1512G>A (p.Leu504=) c.1737G>A (p.Leu579=) c.1887G>A (p.Leu629=) c.1497G>A (p.Leu499=) n.317G>A c.1086G>A (p.Leu362=) | |
2 | g.206127837A= | CA2496479093 | NDUFS1 | c.1844T= (p.Leu615=) c.1673T= (p.Leu558=) c.1511T= (p.Leu504=) c.1736T= (p.Leu579=) c.1886T= (p.Leu629=) c.1496T= (p.Leu499=) n.316T= c.1085T= (p.Leu362=) | |
2 | g.206127837A>C | CA350043026 | NDUFS1 | c.1844T>G (p.Leu615Trp) c.1673T>G (p.Leu558Trp) c.1511T>G (p.Leu504Trp) c.1736T>G (p.Leu579Trp) c.1886T>G (p.Leu629Trp) c.1496T>G (p.Leu499Trp) n.316T>G c.1085T>G (p.Leu362Trp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206127837A>G | CA350043028 | NDUFS1 | c.1844T>C (p.Leu615Ser) c.1673T>C (p.Leu558Ser) c.1511T>C (p.Leu504Ser) c.1736T>C (p.Leu579Ser) c.1886T>C (p.Leu629Ser) c.1496T>C (p.Leu499Ser) n.316T>C c.1085T>C (p.Leu362Ser) | |
2 | g.206127837A>T | CA350043032 | NDUFS1 | c.1844T>A (p.Leu615Ter) c.1673T>A (p.Leu558Ter) c.1511T>A (p.Leu504Ter) c.1736T>A (p.Leu579Ter) c.1886T>A (p.Leu629Ter) c.1496T>A (p.Leu499Ter) n.316T>A c.1085T>A (p.Leu362Ter) | |
2 | g.206127838A>C | CA350043035 | NDUFS1 | c.1843T>G (p.Leu615Val) c.1672T>G (p.Leu558Val) c.1510T>G (p.Leu504Val) c.1735T>G (p.Leu579Val) c.1885T>G (p.Leu629Val) c.1495T>G (p.Leu499Val) n.315T>G c.1084T>G (p.Leu362Val) | |
2 | g.206127838A>G | CA430942978 | NDUFS1 | c.1843T>C (p.Leu615=) c.1672T>C (p.Leu558=) c.1510T>C (p.Leu504=) c.1735T>C (p.Leu579=) c.1885T>C (p.Leu629=) c.1495T>C (p.Leu499=) n.315T>C c.1084T>C (p.Leu362=) | |
2 | g.206127838A>T | CA350043038 | NDUFS1 | c.1843T>A (p.Leu615Met) c.1672T>A (p.Leu558Met) c.1510T>A (p.Leu504Met) c.1735T>A (p.Leu579Met) c.1885T>A (p.Leu629Met) c.1495T>A (p.Leu499Met) n.315T>A c.1084T>A (p.Leu362Met) | |
2 | g.206127839G>A | CA430942982 | NDUFS1 | c.1842C>T (p.Gly614=) c.1671C>T (p.Gly557=) c.1509C>T (p.Gly503=) c.1734C>T (p.Gly578=) c.1884C>T (p.Gly628=) c.1494C>T (p.Gly498=) n.314C>T c.1083C>T (p.Gly361=) | |
2 | g.206127839G>C | CA430942983 | NDUFS1 | c.1842C>G (p.Gly614=) c.1671C>G (p.Gly557=) c.1509C>G (p.Gly503=) c.1734C>G (p.Gly578=) c.1884C>G (p.Gly628=) c.1494C>G (p.Gly498=) n.314C>G c.1083C>G (p.Gly361=) | |
2 | g.206127839G>T | CA430942985 | NDUFS1 | c.1842C>A (p.Gly614=) c.1671C>A (p.Gly557=) c.1509C>A (p.Gly503=) c.1734C>A (p.Gly578=) c.1884C>A (p.Gly628=) c.1494C>A (p.Gly498=) n.314C>A c.1083C>A (p.Gly361=) | |
2 | g.206127840C>A | CA350043041 | NDUFS1 | c.1841G>T (p.Gly614Val) c.1670G>T (p.Gly557Val) c.1508G>T (p.Gly503Val) c.1733G>T (p.Gly578Val) c.1883G>T (p.Gly628Val) c.1493G>T (p.Gly498Val) n.313G>T c.1082G>T (p.Gly361Val) | |
2 | g.206127840C>G | CA350043042 | NDUFS1 | c.1841G>C (p.Gly614Ala) c.1670G>C (p.Gly557Ala) c.1508G>C (p.Gly503Ala) c.1733G>C (p.Gly578Ala) c.1883G>C (p.Gly628Ala) c.1493G>C (p.Gly498Ala) n.313G>C c.1082G>C (p.Gly361Ala) | |
2 | g.206127840C>T | CA350043044 | NDUFS1 | c.1841G>A (p.Gly614Asp) c.1670G>A (p.Gly557Asp) c.1508G>A (p.Gly503Asp) c.1733G>A (p.Gly578Asp) c.1883G>A (p.Gly628Asp) c.1493G>A (p.Gly498Asp) n.313G>A c.1082G>A (p.Gly361Asp) | |
2 | g.206127841C>A | CA350043047 | NDUFS1 | c.1840G>T (p.Gly614Cys) c.1669G>T (p.Gly557Cys) c.1507G>T (p.Gly503Cys) c.1732G>T (p.Gly578Cys) c.1882G>T (p.Gly628Cys) c.1492G>T (p.Gly498Cys) n.312G>T c.1081G>T (p.Gly361Cys) | |
2 | g.206127841C>G | CA350043049 | NDUFS1 | c.1840G>C (p.Gly614Arg) c.1669G>C (p.Gly557Arg) c.1507G>C (p.Gly503Arg) c.1732G>C (p.Gly578Arg) c.1882G>C (p.Gly628Arg) c.1492G>C (p.Gly498Arg) n.312G>C c.1081G>C (p.Gly361Arg) | |
2 | g.206127841C>T | CA350043050 | NDUFS1 | c.1840G>A (p.Gly614Ser) c.1669G>A (p.Gly557Ser) c.1507G>A (p.Gly503Ser) c.1732G>A (p.Gly578Ser) c.1882G>A (p.Gly628Ser) c.1492G>A (p.Gly498Ser) n.312G>A c.1081G>A (p.Gly361Ser) | |
2 | g.206127842A= | CA2496479094 | NDUFS1 | c.1839T= (p.Pro613=) c.1668T= (p.Pro556=) c.1506T= (p.Pro502=) c.1731T= (p.Pro577=) c.1881T= (p.Pro627=) c.1491T= (p.Pro497=) n.311T= c.1080T= (p.Pro360=) | |
2 | g.206127842A>C | CA430942994 | NDUFS1 | c.1839T>G (p.Pro613=) c.1668T>G (p.Pro556=) c.1506T>G (p.Pro502=) c.1731T>G (p.Pro577=) c.1881T>G (p.Pro627=) c.1491T>G (p.Pro497=) n.311T>G c.1080T>G (p.Pro360=) | |
2 | g.206127842A>G | CA430942995 | NDUFS1 | c.1839T>C (p.Pro613=) c.1668T>C (p.Pro556=) c.1506T>C (p.Pro502=) c.1731T>C (p.Pro577=) c.1881T>C (p.Pro627=) c.1491T>C (p.Pro497=) n.311T>C c.1080T>C (p.Pro360=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206127842A>T | CA430942997 | NDUFS1 | c.1839T>A (p.Pro613=) c.1668T>A (p.Pro556=) c.1506T>A (p.Pro502=) c.1731T>A (p.Pro577=) c.1881T>A (p.Pro627=) c.1491T>A (p.Pro497=) n.311T>A c.1080T>A (p.Pro360=) | |
2 | g.206127843G>A | CA350043053 | NDUFS1 | c.1838C>T (p.Pro613Leu) c.1667C>T (p.Pro556Leu) c.1505C>T (p.Pro502Leu) c.1730C>T (p.Pro577Leu) c.1880C>T (p.Pro627Leu) c.1490C>T (p.Pro497Leu) n.310C>T c.1079C>T (p.Pro360Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206127843G>C | CA350043052 | NDUFS1 | c.1838C>G (p.Pro613Arg) c.1667C>G (p.Pro556Arg) c.1505C>G (p.Pro502Arg) c.1730C>G (p.Pro577Arg) c.1880C>G (p.Pro627Arg) c.1490C>G (p.Pro497Arg) n.310C>G c.1079C>G (p.Pro360Arg) | |
2 | g.206127843G= | CA2496479095 | NDUFS1 | c.1838C= (p.Pro613=) c.1667C= (p.Pro556=) c.1505C= (p.Pro502=) c.1730C= (p.Pro577=) c.1880C= (p.Pro627=) c.1490C= (p.Pro497=) n.310C= c.1079C= (p.Pro360=) | |
2 | g.206127843G>T | CA350043051 | NDUFS1 | c.1838C>A (p.Pro613His) c.1667C>A (p.Pro556His) c.1505C>A (p.Pro502His) c.1730C>A (p.Pro577His) c.1880C>A (p.Pro627His) c.1490C>A (p.Pro497His) n.310C>A c.1079C>A (p.Pro360His) | |
2 | g.206127844G>A | CA63648644 | NDUFS1 | c.1837C>T (p.Pro613Ser) c.1666C>T (p.Pro556Ser) c.1504C>T (p.Pro502Ser) c.1729C>T (p.Pro577Ser) c.1879C>T (p.Pro627Ser) c.1489C>T (p.Pro497Ser) n.309C>T c.1078C>T (p.Pro360Ser) | dbSNP gnomAD v2 |
2 | g.206127844G>C | CA350043055 | NDUFS1 | c.1837C>G (p.Pro613Ala) c.1666C>G (p.Pro556Ala) c.1504C>G (p.Pro502Ala) c.1729C>G (p.Pro577Ala) c.1879C>G (p.Pro627Ala) c.1489C>G (p.Pro497Ala) n.309C>G c.1078C>G (p.Pro360Ala) | |
2 | g.206127844G= | CA2496479096 | NDUFS1 | c.1837C= (p.Pro613=) c.1666C= (p.Pro556=) c.1504C= (p.Pro502=) c.1729C= (p.Pro577=) c.1879C= (p.Pro627=) c.1489C= (p.Pro497=) n.309C= c.1078C= (p.Pro360=) | |
2 | g.206127844G>T | CA350043057 | NDUFS1 | c.1837C>A (p.Pro613Thr) c.1666C>A (p.Pro556Thr) c.1504C>A (p.Pro502Thr) c.1729C>A (p.Pro577Thr) c.1879C>A (p.Pro627Thr) c.1489C>A (p.Pro497Thr) n.309C>A c.1078C>A (p.Pro360Thr) | |
2 | g.206127845A>C | CA430943007 | NDUFS1 | c.1836T>G (p.Pro612=) c.1665T>G (p.Pro555=) c.1503T>G (p.Pro501=) c.1728T>G (p.Pro576=) c.1878T>G (p.Pro626=) c.1488T>G (p.Pro496=) n.308T>G c.1077T>G (p.Pro359=) | |
2 | g.206127845A>G | CA430943009 | NDUFS1 | c.1836T>C (p.Pro612=) c.1665T>C (p.Pro555=) c.1503T>C (p.Pro501=) c.1728T>C (p.Pro576=) c.1878T>C (p.Pro626=) c.1488T>C (p.Pro496=) n.308T>C c.1077T>C (p.Pro359=) | |
2 | g.206127845A>T | CA430943011 | NDUFS1 | c.1836T>A (p.Pro612=) c.1665T>A (p.Pro555=) c.1503T>A (p.Pro501=) c.1728T>A (p.Pro576=) c.1878T>A (p.Pro626=) c.1488T>A (p.Pro496=) n.308T>A c.1077T>A (p.Pro359=) | |
2 | g.206127846G>A | CA350043059 | NDUFS1 | c.1835C>T (p.Pro612Leu) c.1664C>T (p.Pro555Leu) c.1502C>T (p.Pro501Leu) c.1727C>T (p.Pro576Leu) c.1877C>T (p.Pro626Leu) c.1487C>T (p.Pro496Leu) n.307C>T c.1076C>T (p.Pro359Leu) | |
2 | g.206127846G>C | CA350043060 | NDUFS1 | c.1835C>G (p.Pro612Arg) c.1664C>G (p.Pro555Arg) c.1502C>G (p.Pro501Arg) c.1727C>G (p.Pro576Arg) c.1877C>G (p.Pro626Arg) c.1487C>G (p.Pro496Arg) n.307C>G c.1076C>G (p.Pro359Arg) | |
2 | g.206127846G>T | CA350043063 | NDUFS1 | c.1835C>A (p.Pro612His) c.1664C>A (p.Pro555His) c.1502C>A (p.Pro501His) c.1727C>A (p.Pro576His) c.1877C>A (p.Pro626His) c.1487C>A (p.Pro496His) n.307C>A c.1076C>A (p.Pro359His) | |
2 | g.206127847G>A | CA350043065 | NDUFS1 | c.1834C>T (p.Pro612Ser) c.1663C>T (p.Pro555Ser) c.1501C>T (p.Pro501Ser) c.1726C>T (p.Pro576Ser) c.1876C>T (p.Pro626Ser) c.1486C>T (p.Pro496Ser) n.306C>T c.1075C>T (p.Pro359Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206127847G>C | CA350043069 | NDUFS1 | c.1834C>G (p.Pro612Ala) c.1663C>G (p.Pro555Ala) c.1501C>G (p.Pro501Ala) c.1726C>G (p.Pro576Ala) c.1876C>G (p.Pro626Ala) c.1486C>G (p.Pro496Ala) n.306C>G c.1075C>G (p.Pro359Ala) | |
2 | g.206127847G= | CA2496479097 | NDUFS1 | c.1834C= (p.Pro612=) c.1663C= (p.Pro555=) c.1501C= (p.Pro501=) c.1726C= (p.Pro576=) c.1876C= (p.Pro626=) c.1486C= (p.Pro496=) n.306C= c.1075C= (p.Pro359=) | |
2 | g.206127847G>T | CA350043072 | NDUFS1 | c.1834C>A (p.Pro612Thr) c.1663C>A (p.Pro555Thr) c.1501C>A (p.Pro501Thr) c.1726C>A (p.Pro576Thr) c.1876C>A (p.Pro626Thr) c.1486C>A (p.Pro496Thr) n.306C>A c.1075C>A (p.Pro359Thr) | |
2 | g.206127848T>A | CA430943019 | NDUFS1 | c.1833A>T (p.Thr611=) c.1662A>T (p.Thr554=) c.1500A>T (p.Thr500=) c.1725A>T (p.Thr575=) c.1875A>T (p.Thr625=) c.1485A>T (p.Thr495=) n.305A>T c.1074A>T (p.Thr358=) | |
2 | g.206127848T>C | CA2070342 | NDUFS1 | c.1833A>G (p.Thr611=) c.1662A>G (p.Thr554=) c.1500A>G (p.Thr500=) c.1725A>G (p.Thr575=) c.1875A>G (p.Thr625=) c.1485A>G (p.Thr495=) n.305A>G c.1074A>G (p.Thr358=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206127848T>G | CA430943023 | NDUFS1 | c.1833A>C (p.Thr611=) c.1662A>C (p.Thr554=) c.1500A>C (p.Thr500=) c.1725A>C (p.Thr575=) c.1875A>C (p.Thr625=) c.1485A>C (p.Thr495=) n.305A>C c.1074A>C (p.Thr358=) | |
2 | g.206127848T= | CA2496479098 | NDUFS1 | c.1833A= (p.Thr611=) c.1662A= (p.Thr554=) c.1500A= (p.Thr500=) c.1725A= (p.Thr575=) c.1875A= (p.Thr625=) c.1485A= (p.Thr495=) n.305A= c.1074A= (p.Thr358=) | |
2 | g.206127849G>A | CA350043076 | NDUFS1 | c.1832C>T (p.Thr611Ile) c.1661C>T (p.Thr554Ile) c.1499C>T (p.Thr500Ile) c.1724C>T (p.Thr575Ile) c.1874C>T (p.Thr625Ile) c.1484C>T (p.Thr495Ile) n.304C>T c.1073C>T (p.Thr358Ile) | |
2 | g.206127849G>C | CA350043078 | NDUFS1 | c.1832C>G (p.Thr611Arg) c.1661C>G (p.Thr554Arg) c.1499C>G (p.Thr500Arg) c.1724C>G (p.Thr575Arg) c.1874C>G (p.Thr625Arg) c.1484C>G (p.Thr495Arg) n.304C>G c.1073C>G (p.Thr358Arg) | |
2 | g.206127849G>T | CA350043080 | NDUFS1 | c.1832C>A (p.Thr611Lys) c.1661C>A (p.Thr554Lys) c.1499C>A (p.Thr500Lys) c.1724C>A (p.Thr575Lys) c.1874C>A (p.Thr625Lys) c.1484C>A (p.Thr495Lys) n.304C>A c.1073C>A (p.Thr358Lys) | |
2 | g.206127850T>A | CA350043088 | NDUFS1 | c.1831A>T (p.Thr611Ser) c.1660A>T (p.Thr554Ser) c.1498A>T (p.Thr500Ser) c.1723A>T (p.Thr575Ser) c.1873A>T (p.Thr625Ser) c.1483A>T (p.Thr495Ser) n.303A>T c.1072A>T (p.Thr358Ser) | |
2 | g.206127850T>C | CA350043085 | NDUFS1 | c.1831A>G (p.Thr611Ala) c.1660A>G (p.Thr554Ala) c.1498A>G (p.Thr500Ala) c.1723A>G (p.Thr575Ala) c.1873A>G (p.Thr625Ala) c.1483A>G (p.Thr495Ala) n.303A>G c.1072A>G (p.Thr358Ala) | |
2 | g.206127850T>G | CA350043083 | NDUFS1 | c.1831A>C (p.Thr611Pro) c.1660A>C (p.Thr554Pro) c.1498A>C (p.Thr500Pro) c.1723A>C (p.Thr575Pro) c.1873A>C (p.Thr625Pro) c.1483A>C (p.Thr495Pro) n.303A>C c.1072A>C (p.Thr358Pro) | |
2 | g.206127851C>A | CA430943033 | NDUFS1 | c.1830G>T (p.Val610=) c.1659G>T (p.Val553=) c.1497G>T (p.Val499=) c.1722G>T (p.Val574=) c.1872G>T (p.Val624=) c.1482G>T (p.Val494=) n.302G>T c.1071G>T (p.Val357=) | |
2 | g.206127851C>G | CA430943035 | NDUFS1 | c.1830G>C (p.Val610=) c.1659G>C (p.Val553=) c.1497G>C (p.Val499=) c.1722G>C (p.Val574=) c.1872G>C (p.Val624=) c.1482G>C (p.Val494=) n.302G>C c.1071G>C (p.Val357=) | |
2 | g.206127851C>T | CA430943036 | NDUFS1 | c.1830G>A (p.Val610=) c.1659G>A (p.Val553=) c.1497G>A (p.Val499=) c.1722G>A (p.Val574=) c.1872G>A (p.Val624=) c.1482G>A (p.Val494=) n.302G>A c.1071G>A (p.Val357=) | ClinVar |
2 | g.206127852A>C | CA350043097 | NDUFS1 | c.1829T>G (p.Val610Gly) c.1658T>G (p.Val553Gly) c.1496T>G (p.Val499Gly) c.1721T>G (p.Val574Gly) c.1871T>G (p.Val624Gly) c.1481T>G (p.Val494Gly) n.301T>G c.1070T>G (p.Val357Gly) | COSMIC |
2 | g.206127852A>G | CA350043099 | NDUFS1 | c.1829T>C (p.Val610Ala) c.1658T>C (p.Val553Ala) c.1496T>C (p.Val499Ala) c.1721T>C (p.Val574Ala) c.1871T>C (p.Val624Ala) c.1481T>C (p.Val494Ala) n.301T>C c.1070T>C (p.Val357Ala) | |
2 | g.206127852A>T | CA350043101 | NDUFS1 | c.1829T>A (p.Val610Glu) c.1658T>A (p.Val553Glu) c.1496T>A (p.Val499Glu) c.1721T>A (p.Val574Glu) c.1871T>A (p.Val624Glu) c.1481T>A (p.Val494Glu) n.301T>A c.1070T>A (p.Val357Glu) | |
2 | g.206127853C>A | CA350043104 | NDUFS1 | c.1828G>T (p.Val610Leu) c.1657G>T (p.Val553Leu) c.1495G>T (p.Val499Leu) c.1720G>T (p.Val574Leu) c.1870G>T (p.Val624Leu) c.1480G>T (p.Val494Leu) n.300G>T c.1069G>T (p.Val357Leu) | |
2 | g.206127853C= | CA2496479099 | NDUFS1 | c.1828G= (p.Val610=) c.1657G= (p.Val553=) c.1495G= (p.Val499=) c.1720G= (p.Val574=) c.1870G= (p.Val624=) c.1480G= (p.Val494=) n.300G= c.1069G= (p.Val357=) | |
2 | g.206127853C>G | CA350043126 | NDUFS1 | c.1828G>C (p.Val610Leu) c.1657G>C (p.Val553Leu) c.1495G>C (p.Val499Leu) c.1720G>C (p.Val574Leu) c.1870G>C (p.Val624Leu) c.1480G>C (p.Val494Leu) n.300G>C c.1069G>C (p.Val357Leu) | |
2 | g.206127853C>T | CA350043129 | NDUFS1 | c.1828G>A (p.Val610Met) c.1657G>A (p.Val553Met) c.1495G>A (p.Val499Met) c.1720G>A (p.Val574Met) c.1870G>A (p.Val624Met) c.1480G>A (p.Val494Met) n.300G>A c.1069G>A (p.Val357Met) | |
2 | g.206127854T>A | CA430943049 | NDUFS1 | c.1827A>T (p.Ala609=) c.1656A>T (p.Ala552=) c.1494A>T (p.Ala498=) c.1719A>T (p.Ala573=) c.1869A>T (p.Ala623=) c.1479A>T (p.Ala493=) n.299A>T c.1068A>T (p.Ala356=) | |
2 | g.206127854T>C | CA430943045 | NDUFS1 | c.1827A>G (p.Ala609=) c.1656A>G (p.Ala552=) c.1494A>G (p.Ala498=) c.1719A>G (p.Ala573=) c.1869A>G (p.Ala623=) c.1479A>G (p.Ala493=) n.299A>G c.1068A>G (p.Ala356=) | gnomAD v4 |
2 | g.206127854T>G | CA430943047 | NDUFS1 | c.1827A>C (p.Ala609=) c.1656A>C (p.Ala552=) c.1494A>C (p.Ala498=) c.1719A>C (p.Ala573=) c.1869A>C (p.Ala623=) c.1479A>C (p.Ala493=) n.299A>C c.1068A>C (p.Ala356=) | |
2 | g.206127854_206127857dup | CA2070343 | NDUFS1 | c.1824_1827dup (p.Val610SerfsTer20) c.1653_1656dup (p.Val553SerfsTer20) c.1491_1494dup (p.Val499SerfsTer20) c.1716_1719dup (p.Val574SerfsTer20) c.1866_1869dup (p.Val624SerfsTer20) c.1476_1479dup (p.Val494SerfsTer20) n.296_299dup c.1065_1068dup (p.Val357SerfsTer20) | dbSNP ExAC gnomAD v4 |
2 | g.206127855G>A | CA350043132 | NDUFS1 | c.1826C>T (p.Ala609Val) c.1655C>T (p.Ala552Val) c.1493C>T (p.Ala498Val) c.1718C>T (p.Ala573Val) c.1868C>T (p.Ala623Val) c.1478C>T (p.Ala493Val) n.298C>T c.1067C>T (p.Ala356Val) | |
2 | g.206127855G>C | CA350043133 | NDUFS1 | c.1826C>G (p.Ala609Gly) c.1655C>G (p.Ala552Gly) c.1493C>G (p.Ala498Gly) c.1718C>G (p.Ala573Gly) c.1868C>G (p.Ala623Gly) c.1478C>G (p.Ala493Gly) n.298C>G c.1067C>G (p.Ala356Gly) | |
2 | g.206127855G>T | CA350043135 | NDUFS1 | c.1826C>A (p.Ala609Glu) c.1655C>A (p.Ala552Glu) c.1493C>A (p.Ala498Glu) c.1718C>A (p.Ala573Glu) c.1868C>A (p.Ala623Glu) c.1478C>A (p.Ala493Glu) n.298C>A c.1067C>A (p.Ala356Glu) | COSMIC COSMIC |
2 | g.206127856C>A | CA350043139 | NDUFS1 | c.1825G>T (p.Ala609Ser) c.1654G>T (p.Ala552Ser) c.1492G>T (p.Ala498Ser) c.1717G>T (p.Ala573Ser) c.1867G>T (p.Ala623Ser) c.1477G>T (p.Ala493Ser) n.297G>T c.1066G>T (p.Ala356Ser) | |
2 | g.206127856C= | CA2496479100 | NDUFS1 | c.1825G= (p.Ala609=) c.1654G= (p.Ala552=) c.1492G= (p.Ala498=) c.1717G= (p.Ala573=) c.1867G= (p.Ala623=) c.1477G= (p.Ala493=) n.297G= c.1066G= (p.Ala356=) | |
2 | g.206127856C>G | CA350043142 | NDUFS1 | c.1825G>C (p.Ala609Pro) c.1654G>C (p.Ala552Pro) c.1492G>C (p.Ala498Pro) c.1717G>C (p.Ala573Pro) c.1867G>C (p.Ala623Pro) c.1477G>C (p.Ala493Pro) n.297G>C c.1066G>C (p.Ala356Pro) | |
2 | g.206127856C>T | CA2070344 | NDUFS1 | c.1825G>A (p.Ala609Thr) c.1654G>A (p.Ala552Thr) c.1492G>A (p.Ala498Thr) c.1717G>A (p.Ala573Thr) c.1867G>A (p.Ala623Thr) c.1477G>A (p.Ala493Thr) n.297G>A c.1066G>A (p.Ala356Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206127857T>A | CA430943063 | NDUFS1 | c.1824A>T (p.Val608=) c.1653A>T (p.Val551=) c.1491A>T (p.Val497=) c.1716A>T (p.Val572=) c.1866A>T (p.Val622=) c.1476A>T (p.Val492=) n.296A>T c.1065A>T (p.Val355=) | COSMIC |
2 | g.206127857T>C | CA430943065 | NDUFS1 | c.1824A>G (p.Val608=) c.1653A>G (p.Val551=) c.1491A>G (p.Val497=) c.1716A>G (p.Val572=) c.1866A>G (p.Val622=) c.1476A>G (p.Val492=) n.296A>G c.1065A>G (p.Val355=) | |
2 | g.206127857T>G | CA430943066 | NDUFS1 | c.1824A>C (p.Val608=) c.1653A>C (p.Val551=) c.1491A>C (p.Val497=) c.1716A>C (p.Val572=) c.1866A>C (p.Val622=) c.1476A>C (p.Val492=) n.296A>C c.1065A>C (p.Val355=) | gnomAD v4 |
2 | g.206127858A>C | CA350043144 | NDUFS1 | c.1823T>G (p.Val608Gly) c.1652T>G (p.Val551Gly) c.1490T>G (p.Val497Gly) c.1715T>G (p.Val572Gly) c.1865T>G (p.Val622Gly) c.1475T>G (p.Val492Gly) n.295T>G c.1064T>G (p.Val355Gly) | |
2 | g.206127858A>G | CA350043145 | NDUFS1 | c.1823T>C (p.Val608Ala) c.1652T>C (p.Val551Ala) c.1490T>C (p.Val497Ala) c.1715T>C (p.Val572Ala) c.1865T>C (p.Val622Ala) c.1475T>C (p.Val492Ala) n.295T>C c.1064T>C (p.Val355Ala) | |
2 | g.206127858A>T | CA350043143 | NDUFS1 | c.1823T>A (p.Val608Glu) c.1652T>A (p.Val551Glu) c.1490T>A (p.Val497Glu) c.1715T>A (p.Val572Glu) c.1865T>A (p.Val622Glu) c.1475T>A (p.Val492Glu) n.295T>A c.1064T>A (p.Val355Glu) | |
2 | g.206127859C>A | CA350043147 | NDUFS1 | c.1822G>T (p.Val608Leu) c.1651G>T (p.Val551Leu) c.1489G>T (p.Val497Leu) c.1714G>T (p.Val572Leu) c.1864G>T (p.Val622Leu) c.1474G>T (p.Val492Leu) n.294G>T c.1063G>T (p.Val355Leu) | |
2 | g.206127859C>G | CA350043150 | NDUFS1 | c.1822G>C (p.Val608Leu) c.1651G>C (p.Val551Leu) c.1489G>C (p.Val497Leu) c.1714G>C (p.Val572Leu) c.1864G>C (p.Val622Leu) c.1474G>C (p.Val492Leu) n.294G>C c.1063G>C (p.Val355Leu) | |
2 | g.206127859C>T | CA350043154 | NDUFS1 | c.1822G>A (p.Val608Ile) c.1651G>A (p.Val551Ile) c.1489G>A (p.Val497Ile) c.1714G>A (p.Val572Ile) c.1864G>A (p.Val622Ile) c.1474G>A (p.Val492Ile) n.294G>A c.1063G>A (p.Val355Ile) | gnomAD v4 |
2 | g.206127860C>A | CA350043157 | NDUFS1 | c.1821G>T (p.Lys607Asn) c.1650G>T (p.Lys550Asn) c.1488G>T (p.Lys496Asn) c.1713G>T (p.Lys571Asn) c.1863G>T (p.Lys621Asn) c.1473G>T (p.Lys491Asn) n.293G>T c.1062G>T (p.Lys354Asn) | |
2 | g.206127860C>G | CA350043162 | NDUFS1 | c.1821G>C (p.Lys607Asn) c.1650G>C (p.Lys550Asn) c.1488G>C (p.Lys496Asn) c.1713G>C (p.Lys571Asn) c.1863G>C (p.Lys621Asn) c.1473G>C (p.Lys491Asn) n.293G>C c.1062G>C (p.Lys354Asn) | |
2 | g.206127860C>T | CA430943078 | NDUFS1 | c.1821G>A (p.Lys607=) c.1650G>A (p.Lys550=) c.1488G>A (p.Lys496=) c.1713G>A (p.Lys571=) c.1863G>A (p.Lys621=) c.1473G>A (p.Lys491=) n.293G>A c.1062G>A (p.Lys354=) | gnomAD v4 |
2 | g.206127861T>A | CA350043166 | NDUFS1 | c.1820A>T (p.Lys607Met) c.1649A>T (p.Lys550Met) c.1487A>T (p.Lys496Met) c.1712A>T (p.Lys571Met) c.1862A>T (p.Lys621Met) c.1472A>T (p.Lys491Met) n.292A>T c.1061A>T (p.Lys354Met) | |
2 | g.206127861T>C | CA350043168 | NDUFS1 | c.1820A>G (p.Lys607Arg) c.1649A>G (p.Lys550Arg) c.1487A>G (p.Lys496Arg) c.1712A>G (p.Lys571Arg) c.1862A>G (p.Lys621Arg) c.1472A>G (p.Lys491Arg) n.292A>G c.1061A>G (p.Lys354Arg) | |
2 | g.206127861T>G | CA350043170 | NDUFS1 | c.1820A>C (p.Lys607Thr) c.1649A>C (p.Lys550Thr) c.1487A>C (p.Lys496Thr) c.1712A>C (p.Lys571Thr) c.1862A>C (p.Lys621Thr) c.1472A>C (p.Lys491Thr) n.292A>C c.1061A>C (p.Lys354Thr) | |
2 | g.206127862T>A | CA350043174 | NDUFS1 | c.1819A>T (p.Lys607Ter) c.1648A>T (p.Lys550Ter) c.1486A>T (p.Lys496Ter) c.1711A>T (p.Lys571Ter) c.1861A>T (p.Lys621Ter) c.1471A>T (p.Lys491Ter) n.291A>T c.1060A>T (p.Lys354Ter) | |
2 | g.206127862T>C | CA350043178 | NDUFS1 | c.1819A>G (p.Lys607Glu) c.1648A>G (p.Lys550Glu) c.1486A>G (p.Lys496Glu) c.1711A>G (p.Lys571Glu) c.1861A>G (p.Lys621Glu) c.1471A>G (p.Lys491Glu) n.291A>G c.1060A>G (p.Lys354Glu) | |
2 | g.206127862T>G | CA350043193 | NDUFS1 | c.1819A>C (p.Lys607Gln) c.1648A>C (p.Lys550Gln) c.1486A>C (p.Lys496Gln) c.1711A>C (p.Lys571Gln) c.1861A>C (p.Lys621Gln) c.1471A>C (p.Lys491Gln) n.291A>C c.1060A>C (p.Lys354Gln) | |
2 | g.206127863A>C | CA430943088 | NDUFS1 | c.1818T>G (p.Thr606=) c.1647T>G (p.Thr549=) c.1485T>G (p.Thr495=) c.1710T>G (p.Thr570=) c.1860T>G (p.Thr620=) c.1470T>G (p.Thr490=) n.290T>G c.1059T>G (p.Thr353=) | |
2 | g.206127863A>G | CA430943097 | NDUFS1 | c.1818T>C (p.Thr606=) c.1647T>C (p.Thr549=) c.1485T>C (p.Thr495=) c.1710T>C (p.Thr570=) c.1860T>C (p.Thr620=) c.1470T>C (p.Thr490=) n.290T>C c.1059T>C (p.Thr353=) | gnomAD v4 |
2 | g.206127863A>T | CA430943100 | NDUFS1 | c.1818T>A (p.Thr606=) c.1647T>A (p.Thr549=) c.1485T>A (p.Thr495=) c.1710T>A (p.Thr570=) c.1860T>A (p.Thr620=) c.1470T>A (p.Thr490=) n.290T>A c.1059T>A (p.Thr353=) | |
2 | g.206127864G>A | CA350043197 | NDUFS1 | c.1817C>T (p.Thr606Ile) c.1646C>T (p.Thr549Ile) c.1484C>T (p.Thr495Ile) c.1709C>T (p.Thr570Ile) c.1859C>T (p.Thr620Ile) c.1469C>T (p.Thr490Ile) n.289C>T c.1058C>T (p.Thr353Ile) | |
2 | g.206127864G>C | CA350043195 | NDUFS1 | c.1817C>G (p.Thr606Ser) c.1646C>G (p.Thr549Ser) c.1484C>G (p.Thr495Ser) c.1709C>G (p.Thr570Ser) c.1859C>G (p.Thr620Ser) c.1469C>G (p.Thr490Ser) n.289C>G c.1058C>G (p.Thr353Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206127864G= | CA2496479101 | NDUFS1 | c.1817C= (p.Thr606=) c.1646C= (p.Thr549=) c.1484C= (p.Thr495=) c.1709C= (p.Thr570=) c.1859C= (p.Thr620=) c.1469C= (p.Thr490=) n.289C= c.1058C= (p.Thr353=) | |
2 | g.206127864G>T | CA350043194 | NDUFS1 | c.1817C>A (p.Thr606Asn) c.1646C>A (p.Thr549Asn) c.1484C>A (p.Thr495Asn) c.1709C>A (p.Thr570Asn) c.1859C>A (p.Thr620Asn) c.1469C>A (p.Thr490Asn) n.289C>A c.1058C>A (p.Thr353Asn) | |
2 | g.206127865T>A | CA350043200 | NDUFS1 | c.1816A>T (p.Thr606Ser) c.1645A>T (p.Thr549Ser) c.1483A>T (p.Thr495Ser) c.1708A>T (p.Thr570Ser) c.1858A>T (p.Thr620Ser) c.1468A>T (p.Thr490Ser) n.288A>T c.1057A>T (p.Thr353Ser) | |
2 | g.206127865T>C | CA350043202 | NDUFS1 | c.1816A>G (p.Thr606Ala) c.1645A>G (p.Thr549Ala) c.1483A>G (p.Thr495Ala) c.1708A>G (p.Thr570Ala) c.1858A>G (p.Thr620Ala) c.1468A>G (p.Thr490Ala) n.288A>G c.1057A>G (p.Thr353Ala) | gnomAD v4 |
2 | g.206127865T>G | CA350043205 | NDUFS1 | c.1816A>C (p.Thr606Pro) c.1645A>C (p.Thr549Pro) c.1483A>C (p.Thr495Pro) c.1708A>C (p.Thr570Pro) c.1858A>C (p.Thr620Pro) c.1468A>C (p.Thr490Pro) n.288A>C c.1057A>C (p.Thr353Pro) | |
2 | g.206127866C>A | CA350043216 | NDUFS1 | c.1815G>T (p.Gln605His) c.1644G>T (p.Gln548His) c.1482G>T (p.Gln494His) c.1707G>T (p.Gln569His) c.1857G>T (p.Gln619His) c.1467G>T (p.Gln489His) n.287G>T c.1056G>T (p.Gln352His) | |
2 | g.206127866C>G | CA350043223 | NDUFS1 | c.1815G>C (p.Gln605His) c.1644G>C (p.Gln548His) c.1482G>C (p.Gln494His) c.1707G>C (p.Gln569His) c.1857G>C (p.Gln619His) c.1467G>C (p.Gln489His) n.287G>C c.1056G>C (p.Gln352His) | |
2 | g.206127866C>T | CA430943118 | NDUFS1 | c.1815G>A (p.Gln605=) c.1644G>A (p.Gln548=) c.1482G>A (p.Gln494=) c.1707G>A (p.Gln569=) c.1857G>A (p.Gln619=) c.1467G>A (p.Gln489=) n.287G>A c.1056G>A (p.Gln352=) | |
2 | g.206127867T>A | CA2070345 | NDUFS1 | c.1814A>T (p.Gln605Leu) c.1643A>T (p.Gln548Leu) c.1481A>T (p.Gln494Leu) c.1706A>T (p.Gln569Leu) c.1856A>T (p.Gln619Leu) c.1466A>T (p.Gln489Leu) n.286A>T c.1055A>T (p.Gln352Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206127867T>C | CA350043228 | NDUFS1 | c.1814A>G (p.Gln605Arg) c.1643A>G (p.Gln548Arg) c.1481A>G (p.Gln494Arg) c.1706A>G (p.Gln569Arg) c.1856A>G (p.Gln619Arg) c.1466A>G (p.Gln489Arg) n.286A>G c.1055A>G (p.Gln352Arg) | gnomAD v4 |
2 | g.206127867T>G | CA350043231 | NDUFS1 | c.1814A>C (p.Gln605Pro) c.1643A>C (p.Gln548Pro) c.1481A>C (p.Gln494Pro) c.1706A>C (p.Gln569Pro) c.1856A>C (p.Gln619Pro) c.1466A>C (p.Gln489Pro) n.286A>C c.1055A>C (p.Gln352Pro) | gnomAD v4 |
2 | g.206127867T= | CA2496479102 | NDUFS1 | c.1814A= (p.Gln605=) c.1643A= (p.Gln548=) c.1481A= (p.Gln494=) c.1706A= (p.Gln569=) c.1856A= (p.Gln619=) c.1466A= (p.Gln489=) n.286A= c.1055A= (p.Gln352=) | |
2 | g.206127868G>A | CA350043233 | NDUFS1 | c.1813C>T (p.Gln605Ter) c.1642C>T (p.Gln548Ter) c.1480C>T (p.Gln494Ter) c.1705C>T (p.Gln569Ter) c.1855C>T (p.Gln619Ter) c.1465C>T (p.Gln489Ter) n.285C>T c.1054C>T (p.Gln352Ter) | gnomAD v4 |
2 | g.206127868G>C | CA350043236 | NDUFS1 | c.1813C>G (p.Gln605Glu) c.1642C>G (p.Gln548Glu) c.1480C>G (p.Gln494Glu) c.1705C>G (p.Gln569Glu) c.1855C>G (p.Gln619Glu) c.1465C>G (p.Gln489Glu) n.285C>G c.1054C>G (p.Gln352Glu) | |
2 | g.206127868G>T | CA350043238 | NDUFS1 | c.1813C>A (p.Gln605Lys) c.1642C>A (p.Gln548Lys) c.1480C>A (p.Gln494Lys) c.1705C>A (p.Gln569Lys) c.1855C>A (p.Gln619Lys) c.1465C>A (p.Gln489Lys) n.285C>A c.1054C>A (p.Gln352Lys) | |
2 | g.206127869C>A | CA350043239 | NDUFS1 | c.1812G>T (p.Gln604His) c.1641G>T (p.Gln547His) c.1479G>T (p.Gln493His) c.1704G>T (p.Gln568His) c.1854G>T (p.Gln618His) c.1464G>T (p.Gln488His) n.284G>T c.1053G>T (p.Gln351His) | |
2 | g.206127869C>G | CA350043243 | NDUFS1 | c.1812G>C (p.Gln604His) c.1641G>C (p.Gln547His) c.1479G>C (p.Gln493His) c.1704G>C (p.Gln568His) c.1854G>C (p.Gln618His) c.1464G>C (p.Gln488His) n.284G>C c.1053G>C (p.Gln351His) | |
2 | g.206127869C>T | CA430943133 | NDUFS1 | c.1812G>A (p.Gln604=) c.1641G>A (p.Gln547=) c.1479G>A (p.Gln493=) c.1704G>A (p.Gln568=) c.1854G>A (p.Gln618=) c.1464G>A (p.Gln488=) n.284G>A c.1053G>A (p.Gln351=) | |
2 | g.206127870T>A | CA350043247 | NDUFS1 | c.1811A>T (p.Gln604Leu) c.1640A>T (p.Gln547Leu) c.1478A>T (p.Gln493Leu) c.1703A>T (p.Gln568Leu) c.1853A>T (p.Gln618Leu) c.1463A>T (p.Gln488Leu) n.283A>T c.1052A>T (p.Gln351Leu) | |
2 | g.206127870T>C | CA350043248 | NDUFS1 | c.1811A>G (p.Gln604Arg) c.1640A>G (p.Gln547Arg) c.1478A>G (p.Gln493Arg) c.1703A>G (p.Gln568Arg) c.1853A>G (p.Gln618Arg) c.1463A>G (p.Gln488Arg) n.283A>G c.1052A>G (p.Gln351Arg) | |
2 | g.206127870T>G | CA350043244 | NDUFS1 | c.1811A>C (p.Gln604Pro) c.1640A>C (p.Gln547Pro) c.1478A>C (p.Gln493Pro) c.1703A>C (p.Gln568Pro) c.1853A>C (p.Gln618Pro) c.1463A>C (p.Gln488Pro) n.283A>C c.1052A>C (p.Gln351Pro) | gnomAD v4 |
2 | g.206127871G>A | CA350043252 | NDUFS1 | c.1810C>T (p.Gln604Ter) c.1639C>T (p.Gln547Ter) c.1477C>T (p.Gln493Ter) c.1702C>T (p.Gln568Ter) c.1852C>T (p.Gln618Ter) c.1462C>T (p.Gln488Ter) n.282C>T c.1051C>T (p.Gln351Ter) | ClinVar dbSNP |
2 | g.206127871G>C | CA350043255 | NDUFS1 | c.1810C>G (p.Gln604Glu) c.1639C>G (p.Gln547Glu) c.1477C>G (p.Gln493Glu) c.1702C>G (p.Gln568Glu) c.1852C>G (p.Gln618Glu) c.1462C>G (p.Gln488Glu) n.282C>G c.1051C>G (p.Gln351Glu) | |
2 | g.206127871G>T | CA350043259 | NDUFS1 | c.1810C>A (p.Gln604Lys) c.1639C>A (p.Gln547Lys) c.1477C>A (p.Gln493Lys) c.1702C>A (p.Gln568Lys) c.1852C>A (p.Gln618Lys) c.1462C>A (p.Gln488Lys) n.282C>A c.1051C>A (p.Gln351Lys) | |
2 | g.206127872A>C | CA430943142 | NDUFS1 | c.1809T>G (p.Ala603=) c.1638T>G (p.Ala546=) c.1476T>G (p.Ala492=) c.1701T>G (p.Ala567=) c.1851T>G (p.Ala617=) c.1461T>G (p.Ala487=) n.281T>G c.1050T>G (p.Ala350=) | dbSNP |
2 | g.206127872A>G | CA430943144 | NDUFS1 | c.1809T>C (p.Ala603=) c.1638T>C (p.Ala546=) c.1476T>C (p.Ala492=) c.1701T>C (p.Ala567=) c.1851T>C (p.Ala617=) c.1461T>C (p.Ala487=) n.281T>C c.1050T>C (p.Ala350=) | |
2 | g.206127872A>T | CA430943146 | NDUFS1 | c.1809T>A (p.Ala603=) c.1638T>A (p.Ala546=) c.1476T>A (p.Ala492=) c.1701T>A (p.Ala567=) c.1851T>A (p.Ala617=) c.1461T>A (p.Ala487=) n.281T>A c.1050T>A (p.Ala350=) | |
2 | g.206127873G>A | CA350043266 | NDUFS1 | c.1808C>T (p.Ala603Val) c.1637C>T (p.Ala546Val) c.1475C>T (p.Ala492Val) c.1700C>T (p.Ala567Val) c.1850C>T (p.Ala617Val) c.1460C>T (p.Ala487Val) n.280C>T c.1049C>T (p.Ala350Val) | |
2 | g.206127873G>C | CA350043269 | NDUFS1 | c.1808C>G (p.Ala603Gly) c.1637C>G (p.Ala546Gly) c.1475C>G (p.Ala492Gly) c.1700C>G (p.Ala567Gly) c.1850C>G (p.Ala617Gly) c.1460C>G (p.Ala487Gly) n.280C>G c.1049C>G (p.Ala350Gly) | |
2 | g.206127873G>T | CA350043272 | NDUFS1 | c.1808C>A (p.Ala603Asp) c.1637C>A (p.Ala546Asp) c.1475C>A (p.Ala492Asp) c.1700C>A (p.Ala567Asp) c.1850C>A (p.Ala617Asp) c.1460C>A (p.Ala487Asp) n.280C>A c.1049C>A (p.Ala350Asp) | |
2 | g.206127874C>A | CA350043274 | NDUFS1 | c.1807G>T (p.Ala603Ser) c.1636G>T (p.Ala546Ser) c.1474G>T (p.Ala492Ser) c.1699G>T (p.Ala567Ser) c.1849G>T (p.Ala617Ser) c.1459G>T (p.Ala487Ser) n.279G>T c.1048G>T (p.Ala350Ser) | |
2 | g.206127874C>G | CA350043277 | NDUFS1 | c.1807G>C (p.Ala603Pro) c.1636G>C (p.Ala546Pro) c.1474G>C (p.Ala492Pro) c.1699G>C (p.Ala567Pro) c.1849G>C (p.Ala617Pro) c.1459G>C (p.Ala487Pro) n.279G>C c.1048G>C (p.Ala350Pro) | |
2 | g.206127874C>T | CA350043280 | NDUFS1 | c.1807G>A (p.Ala603Thr) c.1636G>A (p.Ala546Thr) c.1474G>A (p.Ala492Thr) c.1699G>A (p.Ala567Thr) c.1849G>A (p.Ala617Thr) c.1459G>A (p.Ala487Thr) n.279G>A c.1048G>A (p.Ala350Thr) | |
2 | g.206127875T>A | CA350043287 | NDUFS1 | c.1806A>T (p.Arg602Ser) c.1635A>T (p.Arg545Ser) c.1473A>T (p.Arg491Ser) c.1698A>T (p.Arg566Ser) c.1848A>T (p.Arg616Ser) c.1458A>T (p.Arg486Ser) n.278A>T c.1047A>T (p.Arg349Ser) | |
2 | g.206127875T>C | CA2070346 | NDUFS1 | c.1806A>G (p.Arg602=) c.1635A>G (p.Arg545=) c.1473A>G (p.Arg491=) c.1698A>G (p.Arg566=) c.1848A>G (p.Arg616=) c.1458A>G (p.Arg486=) n.278A>G c.1047A>G (p.Arg349=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206127875T>G | CA350043293 | NDUFS1 | c.1806A>C (p.Arg602Ser) c.1635A>C (p.Arg545Ser) c.1473A>C (p.Arg491Ser) c.1698A>C (p.Arg566Ser) c.1848A>C (p.Arg616Ser) c.1458A>C (p.Arg486Ser) n.278A>C c.1047A>C (p.Arg349Ser) | |
2 | g.206127875T= | CA2496479103 | NDUFS1 | c.1806A= (p.Arg602=) c.1635A= (p.Arg545=) c.1473A= (p.Arg491=) c.1698A= (p.Arg566=) c.1848A= (p.Arg616=) c.1458A= (p.Arg486=) n.278A= c.1047A= (p.Arg349=) | |
2 | g.206127876C>A | CA350043295 | NDUFS1 | c.1805G>T (p.Arg602Ile) c.1634G>T (p.Arg545Ile) c.1472G>T (p.Arg491Ile) c.1697G>T (p.Arg566Ile) c.1847G>T (p.Arg616Ile) c.1457G>T (p.Arg486Ile) n.277G>T c.1046G>T (p.Arg349Ile) | |
2 | g.206127876C>G | CA350043297 | NDUFS1 | c.1805G>C (p.Arg602Thr) c.1634G>C (p.Arg545Thr) c.1472G>C (p.Arg491Thr) c.1697G>C (p.Arg566Thr) c.1847G>C (p.Arg616Thr) c.1457G>C (p.Arg486Thr) n.277G>C c.1046G>C (p.Arg349Thr) | gnomAD v4 COSMIC |
2 | g.206127876C>T | CA350043299 | NDUFS1 | c.1805G>A (p.Arg602Lys) c.1634G>A (p.Arg545Lys) c.1472G>A (p.Arg491Lys) c.1697G>A (p.Arg566Lys) c.1847G>A (p.Arg616Lys) c.1457G>A (p.Arg486Lys) n.277G>A c.1046G>A (p.Arg349Lys) | |
2 | g.206127877T>A | CA350043302 | NDUFS1 | c.1804A>T (p.Arg602Ter) c.1633A>T (p.Arg545Ter) c.1471A>T (p.Arg491Ter) c.1696A>T (p.Arg566Ter) c.1846A>T (p.Arg616Ter) c.1456A>T (p.Arg486Ter) n.276A>T c.1045A>T (p.Arg349Ter) | |
2 | g.206127877T>C | CA350043303 | NDUFS1 | c.1804A>G (p.Arg602Gly) c.1633A>G (p.Arg545Gly) c.1471A>G (p.Arg491Gly) c.1696A>G (p.Arg566Gly) c.1846A>G (p.Arg616Gly) c.1456A>G (p.Arg486Gly) n.276A>G c.1045A>G (p.Arg349Gly) | |
2 | g.206127877T>G | CA430943166 | NDUFS1 | c.1804A>C (p.Arg602=) c.1633A>C (p.Arg545=) c.1471A>C (p.Arg491=) c.1696A>C (p.Arg566=) c.1846A>C (p.Arg616=) c.1456A>C (p.Arg486=) n.276A>C c.1045A>C (p.Arg349=) | |
2 | g.206127878A= | CA2496479104 | NDUFS1 | c.1803T= (p.Gly601=) c.1632T= (p.Gly544=) c.1470T= (p.Gly490=) c.1695T= (p.Gly565=) c.1845T= (p.Gly615=) c.1455T= (p.Gly485=) n.275T= c.1044T= (p.Gly348=) | |
2 | g.206127878A>C | CA430943169 | NDUFS1 | c.1803T>G (p.Gly601=) c.1632T>G (p.Gly544=) c.1470T>G (p.Gly490=) c.1695T>G (p.Gly565=) c.1845T>G (p.Gly615=) c.1455T>G (p.Gly485=) n.275T>G c.1044T>G (p.Gly348=) | |
2 | g.206127878A>G | CA430943175 | NDUFS1 | c.1803T>C (p.Gly601=) c.1632T>C (p.Gly544=) c.1470T>C (p.Gly490=) c.1695T>C (p.Gly565=) c.1845T>C (p.Gly615=) c.1455T>C (p.Gly485=) n.275T>C c.1044T>C (p.Gly348=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206127878A>T | CA430943177 | NDUFS1 | c.1803T>A (p.Gly601=) c.1632T>A (p.Gly544=) c.1470T>A (p.Gly490=) c.1695T>A (p.Gly565=) c.1845T>A (p.Gly615=) c.1455T>A (p.Gly485=) n.275T>A c.1044T>A (p.Gly348=) | |
2 | g.206127879C>A | CA350043305 | NDUFS1 | c.1802G>T (p.Gly601Val) c.1631G>T (p.Gly544Val) c.1469G>T (p.Gly490Val) c.1694G>T (p.Gly565Val) c.1844G>T (p.Gly615Val) c.1454G>T (p.Gly485Val) n.274G>T c.1043G>T (p.Gly348Val) | |
2 | g.206127879C= | CA2496479105 | NDUFS1 | c.1802G= (p.Gly601=) c.1631G= (p.Gly544=) c.1469G= (p.Gly490=) c.1694G= (p.Gly565=) c.1844G= (p.Gly615=) c.1454G= (p.Gly485=) n.274G= c.1043G= (p.Gly348=) | |
2 | g.206127879C>G | CA350043307 | NDUFS1 | c.1802G>C (p.Gly601Ala) c.1631G>C (p.Gly544Ala) c.1469G>C (p.Gly490Ala) c.1694G>C (p.Gly565Ala) c.1844G>C (p.Gly615Ala) c.1454G>C (p.Gly485Ala) n.274G>C c.1043G>C (p.Gly348Ala) | |
2 | g.206127879C>T | CA350043309 | NDUFS1 | c.1802G>A (p.Gly601Asp) c.1631G>A (p.Gly544Asp) c.1469G>A (p.Gly490Asp) c.1694G>A (p.Gly565Asp) c.1844G>A (p.Gly615Asp) c.1454G>A (p.Gly485Asp) n.274G>A c.1043G>A (p.Gly348Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206127880C>A | CA350043312 | NDUFS1 | c.1801G>T (p.Gly601Cys) c.1630G>T (p.Gly544Cys) c.1468G>T (p.Gly490Cys) c.1693G>T (p.Gly565Cys) c.1843G>T (p.Gly615Cys) c.1453G>T (p.Gly485Cys) n.273G>T c.1042G>T (p.Gly348Cys) | |
2 | g.206127880C= | CA2496479106 | NDUFS1 | c.1801G= (p.Gly601=) c.1630G= (p.Gly544=) c.1468G= (p.Gly490=) c.1693G= (p.Gly565=) c.1843G= (p.Gly615=) c.1453G= (p.Gly485=) n.273G= c.1042G= (p.Gly348=) | |
2 | g.206127880C>G | CA350043314 | NDUFS1 | c.1801G>C (p.Gly601Arg) c.1630G>C (p.Gly544Arg) c.1468G>C (p.Gly490Arg) c.1693G>C (p.Gly565Arg) c.1843G>C (p.Gly615Arg) c.1453G>C (p.Gly485Arg) n.273G>C c.1042G>C (p.Gly348Arg) | |
2 | g.206127880C>T | CA350043317 | NDUFS1 | c.1801G>A (p.Gly601Ser) c.1630G>A (p.Gly544Ser) c.1468G>A (p.Gly490Ser) c.1693G>A (p.Gly565Ser) c.1843G>A (p.Gly615Ser) c.1453G>A (p.Gly485Ser) n.273G>A c.1042G>A (p.Gly348Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206127881C>A | CA350043325 | NDUFS1 | c.1800G>T (p.Glu600Asp) c.1629G>T (p.Glu543Asp) c.1467G>T (p.Glu489Asp) c.1692G>T (p.Glu564Asp) c.1842G>T (p.Glu614Asp) c.1452G>T (p.Glu484Asp) n.272G>T c.1041G>T (p.Glu347Asp) | |
2 | g.206127881C= | CA2496479107 | NDUFS1 | c.1800G= (p.Glu600=) c.1629G= (p.Glu543=) c.1467G= (p.Glu489=) c.1692G= (p.Glu564=) c.1842G= (p.Glu614=) c.1452G= (p.Glu484=) n.272G= c.1041G= (p.Glu347=) | |
2 | g.206127881C>G | CA320092 | NDUFS1 | c.1800G>C (p.Glu600Asp) c.1629G>C (p.Glu543Asp) c.1467G>C (p.Glu489Asp) c.1692G>C (p.Glu564Asp) c.1842G>C (p.Glu614Asp) c.1452G>C (p.Glu484Asp) n.272G>C c.1041G>C (p.Glu347Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.206127881C>T | CA430943190 | NDUFS1 | c.1800G>A (p.Glu600=) c.1629G>A (p.Glu543=) c.1467G>A (p.Glu489=) c.1692G>A (p.Glu564=) c.1842G>A (p.Glu614=) c.1452G>A (p.Glu484=) n.272G>A c.1041G>A (p.Glu347=) | |
2 | g.206127882T>A | CA350043331 | NDUFS1 | c.1799A>T (p.Glu600Val) c.1628A>T (p.Glu543Val) c.1466A>T (p.Glu489Val) c.1691A>T (p.Glu564Val) c.1841A>T (p.Glu614Val) c.1451A>T (p.Glu484Val) n.271A>T c.1040A>T (p.Glu347Val) | |
2 | g.206127882T>C | CA350043333 | NDUFS1 | c.1799A>G (p.Glu600Gly) c.1628A>G (p.Glu543Gly) c.1466A>G (p.Glu489Gly) c.1691A>G (p.Glu564Gly) c.1841A>G (p.Glu614Gly) c.1451A>G (p.Glu484Gly) n.271A>G c.1040A>G (p.Glu347Gly) | |
2 | g.206127882T>G | CA350043338 | NDUFS1 | c.1799A>C (p.Glu600Ala) c.1628A>C (p.Glu543Ala) c.1466A>C (p.Glu489Ala) c.1691A>C (p.Glu564Ala) c.1841A>C (p.Glu614Ala) c.1451A>C (p.Glu484Ala) n.271A>C c.1040A>C (p.Glu347Ala) | |
2 | g.206127883C>A | CA350043340 | NDUFS1 | c.1798G>T (p.Glu600Ter) c.1627G>T (p.Glu543Ter) c.1465G>T (p.Glu489Ter) c.1690G>T (p.Glu564Ter) c.1840G>T (p.Glu614Ter) c.1450G>T (p.Glu484Ter) n.270G>T c.1039G>T (p.Glu347Ter) | |
2 | g.206127883C>G | CA350043344 | NDUFS1 | c.1798G>C (p.Glu600Gln) c.1627G>C (p.Glu543Gln) c.1465G>C (p.Glu489Gln) c.1690G>C (p.Glu564Gln) c.1840G>C (p.Glu614Gln) c.1450G>C (p.Glu484Gln) n.270G>C c.1039G>C (p.Glu347Gln) | |
2 | g.206127883C>T | CA350043346 | NDUFS1 | c.1798G>A (p.Glu600Lys) c.1627G>A (p.Glu543Lys) c.1465G>A (p.Glu489Lys) c.1690G>A (p.Glu564Lys) c.1840G>A (p.Glu614Lys) c.1450G>A (p.Glu484Lys) n.270G>A c.1039G>A (p.Glu347Lys) | |
2 | g.206127884A>C | CA430943204 | NDUFS1 | c.1797T>G (p.Thr599=) c.1626T>G (p.Thr542=) c.1464T>G (p.Thr488=) c.1689T>G (p.Thr563=) c.1839T>G (p.Thr613=) c.1449T>G (p.Thr483=) n.269T>G c.1038T>G (p.Thr346=) | |
2 | g.206127884A>G | CA430943208 | NDUFS1 | c.1797T>C (p.Thr599=) c.1626T>C (p.Thr542=) c.1464T>C (p.Thr488=) c.1689T>C (p.Thr563=) c.1839T>C (p.Thr613=) c.1449T>C (p.Thr483=) n.269T>C c.1038T>C (p.Thr346=) | gnomAD v4 |
2 | g.206127884A>T | CA430943210 | NDUFS1 | c.1797T>A (p.Thr599=) c.1626T>A (p.Thr542=) c.1464T>A (p.Thr488=) c.1689T>A (p.Thr563=) c.1839T>A (p.Thr613=) c.1449T>A (p.Thr483=) n.269T>A c.1038T>A (p.Thr346=) | |
2 | g.206127885G>A | CA350043352 | NDUFS1 | c.1796C>T (p.Thr599Ile) c.1625C>T (p.Thr542Ile) c.1463C>T (p.Thr488Ile) c.1688C>T (p.Thr563Ile) c.1838C>T (p.Thr613Ile) c.1448C>T (p.Thr483Ile) n.268C>T c.1037C>T (p.Thr346Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206127885G>C | CA350043358 | NDUFS1 | c.1796C>G (p.Thr599Ser) c.1625C>G (p.Thr542Ser) c.1463C>G (p.Thr488Ser) c.1688C>G (p.Thr563Ser) c.1838C>G (p.Thr613Ser) c.1448C>G (p.Thr483Ser) n.268C>G c.1037C>G (p.Thr346Ser) | |
2 | g.206127885G= | CA2496479108 | NDUFS1 | c.1796C= (p.Thr599=) c.1625C= (p.Thr542=) c.1463C= (p.Thr488=) c.1688C= (p.Thr563=) c.1838C= (p.Thr613=) c.1448C= (p.Thr483=) n.268C= c.1037C= (p.Thr346=) | |
2 | g.206127885G>T | CA350043354 | NDUFS1 | c.1796C>A (p.Thr599Asn) c.1625C>A (p.Thr542Asn) c.1463C>A (p.Thr488Asn) c.1688C>A (p.Thr563Asn) c.1838C>A (p.Thr613Asn) c.1448C>A (p.Thr483Asn) n.268C>A c.1037C>A (p.Thr346Asn) | |
2 | g.206127886T>A | CA350043361 | NDUFS1 | c.1795A>T (p.Thr599Ser) c.1624A>T (p.Thr542Ser) c.1462A>T (p.Thr488Ser) c.1687A>T (p.Thr563Ser) c.1837A>T (p.Thr613Ser) c.1447A>T (p.Thr483Ser) n.267A>T c.1036A>T (p.Thr346Ser) | |
2 | g.206127886T>C | CA350043363 | NDUFS1 | c.1795A>G (p.Thr599Ala) c.1624A>G (p.Thr542Ala) c.1462A>G (p.Thr488Ala) c.1687A>G (p.Thr563Ala) c.1837A>G (p.Thr613Ala) c.1447A>G (p.Thr483Ala) n.267A>G c.1036A>G (p.Thr346Ala) | |
2 | g.206127886T>G | CA350043366 | NDUFS1 | c.1795A>C (p.Thr599Pro) c.1624A>C (p.Thr542Pro) c.1462A>C (p.Thr488Pro) c.1687A>C (p.Thr563Pro) c.1837A>C (p.Thr613Pro) c.1447A>C (p.Thr483Pro) n.267A>C c.1036A>C (p.Thr346Pro) | |
2 | g.206127887G>A | CA430943219 | NDUFS1 | c.1794C>T (p.Asn598=) c.1623C>T (p.Asn541=) c.1461C>T (p.Asn487=) c.1686C>T (p.Asn562=) c.1836C>T (p.Asn612=) c.1446C>T (p.Asn482=) n.266C>T c.1035C>T (p.Asn345=) | |
2 | g.206127887G>C | CA350043370 | NDUFS1 | c.1794C>G (p.Asn598Lys) c.1623C>G (p.Asn541Lys) c.1461C>G (p.Asn487Lys) c.1686C>G (p.Asn562Lys) c.1836C>G (p.Asn612Lys) c.1446C>G (p.Asn482Lys) n.266C>G c.1035C>G (p.Asn345Lys) | |
2 | g.206127887G>T | CA350043372 | NDUFS1 | c.1794C>A (p.Asn598Lys) c.1623C>A (p.Asn541Lys) c.1461C>A (p.Asn487Lys) c.1686C>A (p.Asn562Lys) c.1836C>A (p.Asn612Lys) c.1446C>A (p.Asn482Lys) n.266C>A c.1035C>A (p.Asn345Lys) | |
2 | g.206127888T>A | CA350043377 | NDUFS1 | c.1793A>T (p.Asn598Ile) c.1622A>T (p.Asn541Ile) c.1460A>T (p.Asn487Ile) c.1685A>T (p.Asn562Ile) c.1835A>T (p.Asn612Ile) c.1445A>T (p.Asn482Ile) n.265A>T c.1034A>T (p.Asn345Ile) | |
2 | g.206127888T>C | CA350043388 | NDUFS1 | c.1793A>G (p.Asn598Ser) c.1622A>G (p.Asn541Ser) c.1460A>G (p.Asn487Ser) c.1685A>G (p.Asn562Ser) c.1835A>G (p.Asn612Ser) c.1445A>G (p.Asn482Ser) n.265A>G c.1034A>G (p.Asn345Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206127888T>G | CA350043389 | NDUFS1 | c.1793A>C (p.Asn598Thr) c.1622A>C (p.Asn541Thr) c.1460A>C (p.Asn487Thr) c.1685A>C (p.Asn562Thr) c.1835A>C (p.Asn612Thr) c.1445A>C (p.Asn482Thr) n.265A>C c.1034A>C (p.Asn345Thr) | |
2 | g.206127888T= | CA2496479109 | NDUFS1 | c.1793A= (p.Asn598=) c.1622A= (p.Asn541=) c.1460A= (p.Asn487=) c.1685A= (p.Asn562=) c.1835A= (p.Asn612=) c.1445A= (p.Asn482=) n.265A= c.1034A= (p.Asn345=) | |
2 | g.206127889T>A | CA350043390 | NDUFS1 | c.1792A>T (p.Asn598Tyr) c.1621A>T (p.Asn541Tyr) c.1459A>T (p.Asn487Tyr) c.1684A>T (p.Asn562Tyr) c.1834A>T (p.Asn612Tyr) c.1444A>T (p.Asn482Tyr) n.264A>T c.1033A>T (p.Asn345Tyr) | |
2 | g.206127889T>C | CA350043391 | NDUFS1 | c.1792A>G (p.Asn598Asp) c.1621A>G (p.Asn541Asp) c.1459A>G (p.Asn487Asp) c.1684A>G (p.Asn562Asp) c.1834A>G (p.Asn612Asp) c.1444A>G (p.Asn482Asp) n.264A>G c.1033A>G (p.Asn345Asp) | |
2 | g.206127889T>G | CA350043392 | NDUFS1 | c.1792A>C (p.Asn598His) c.1621A>C (p.Asn541His) c.1459A>C (p.Asn487His) c.1684A>C (p.Asn562His) c.1834A>C (p.Asn612His) c.1444A>C (p.Asn482His) n.264A>C c.1033A>C (p.Asn345His) | |
2 | g.206127890G>A | CA430943230 | NDUFS1 | c.1791C>T (p.Val597=) c.1620C>T (p.Val540=) c.1458C>T (p.Val486=) c.1683C>T (p.Val561=) c.1833C>T (p.Val611=) c.1443C>T (p.Val481=) n.263C>T c.1032C>T (p.Val344=) | gnomAD v4 |
2 | g.206127890G>C | CA430943232 | NDUFS1 | c.1791C>G (p.Val597=) c.1620C>G (p.Val540=) c.1458C>G (p.Val486=) c.1683C>G (p.Val561=) c.1833C>G (p.Val611=) c.1443C>G (p.Val481=) n.263C>G c.1032C>G (p.Val344=) | |
2 | g.206127890G= | CA2496479110 | NDUFS1 | c.1791C= (p.Val597=) c.1620C= (p.Val540=) c.1458C= (p.Val486=) c.1683C= (p.Val561=) c.1833C= (p.Val611=) c.1443C= (p.Val481=) n.263C= c.1032C= (p.Val344=) | |
2 | g.206127890G>T | CA430943233 | NDUFS1 | c.1791C>A (p.Val597=) c.1620C>A (p.Val540=) c.1458C>A (p.Val486=) c.1683C>A (p.Val561=) c.1833C>A (p.Val611=) c.1443C>A (p.Val481=) n.263C>A c.1032C>A (p.Val344=) | |
2 | g.206127891A>C | CA350043403 | NDUFS1 | c.1790T>G (p.Val597Gly) c.1619T>G (p.Val540Gly) c.1457T>G (p.Val486Gly) c.1682T>G (p.Val561Gly) c.1832T>G (p.Val611Gly) c.1442T>G (p.Val481Gly) n.262T>G c.1031T>G (p.Val344Gly) | |
2 | g.206127891A>G | CA350043400 | NDUFS1 | c.1790T>C (p.Val597Ala) c.1619T>C (p.Val540Ala) c.1457T>C (p.Val486Ala) c.1682T>C (p.Val561Ala) c.1832T>C (p.Val611Ala) c.1442T>C (p.Val481Ala) n.262T>C c.1031T>C (p.Val344Ala) | |
2 | g.206127891A>T | CA350043395 | NDUFS1 | c.1790T>A (p.Val597Asp) c.1619T>A (p.Val540Asp) c.1457T>A (p.Val486Asp) c.1682T>A (p.Val561Asp) c.1832T>A (p.Val611Asp) c.1442T>A (p.Val481Asp) n.262T>A c.1031T>A (p.Val344Asp) | |
2 | g.206127892_206127893dup | CA2070347 | NDUFS1 | c.1789_1790dup (p.Asn598SerfsTer12) c.1618_1619dup (p.Asn541SerfsTer12) c.1456_1457dup (p.Asn487SerfsTer12) c.1681_1682dup (p.Asn562SerfsTer12) c.1831_1832dup (p.Asn612SerfsTer12) c.1441_1442dup (p.Asn482SerfsTer12) n.261_262dup c.1030_1031dup (p.Asn345SerfsTer12) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206127892C>A | CA350043406 | NDUFS1 | c.1789G>T (p.Val597Phe) c.1618G>T (p.Val540Phe) c.1456G>T (p.Val486Phe) c.1681G>T (p.Val561Phe) c.1831G>T (p.Val611Phe) c.1441G>T (p.Val481Phe) n.261G>T c.1030G>T (p.Val344Phe) | |
2 | g.206127892C>G | CA350043407 | NDUFS1 | c.1789G>C (p.Val597Leu) c.1618G>C (p.Val540Leu) c.1456G>C (p.Val486Leu) c.1681G>C (p.Val561Leu) c.1831G>C (p.Val611Leu) c.1441G>C (p.Val481Leu) n.261G>C c.1030G>C (p.Val344Leu) | |
2 | g.206127892C>T | CA350043408 | NDUFS1 | c.1789G>A (p.Val597Ile) c.1618G>A (p.Val540Ile) c.1456G>A (p.Val486Ile) c.1681G>A (p.Val561Ile) c.1831G>A (p.Val611Ile) c.1441G>A (p.Val481Ile) n.261G>A c.1030G>A (p.Val344Ile) | |
2 | g.206127893A= | CA2496479111 | NDUFS1 | c.1788T= (p.Tyr596=) c.1617T= (p.Tyr539=) c.1455T= (p.Tyr485=) c.1680T= (p.Tyr560=) c.1830T= (p.Tyr610=) c.1440T= (p.Tyr480=) n.260T= c.1029T= (p.Tyr343=) | |
2 | g.206127893A>C | CA350043409 | NDUFS1 | c.1788T>G (p.Tyr596Ter) c.1617T>G (p.Tyr539Ter) c.1455T>G (p.Tyr485Ter) c.1680T>G (p.Tyr560Ter) c.1830T>G (p.Tyr610Ter) c.1440T>G (p.Tyr480Ter) n.260T>G c.1029T>G (p.Tyr343Ter) | |
2 | g.206127893A>G | CA430943248 | NDUFS1 | c.1788T>C (p.Tyr596=) c.1617T>C (p.Tyr539=) c.1455T>C (p.Tyr485=) c.1680T>C (p.Tyr560=) c.1830T>C (p.Tyr610=) c.1440T>C (p.Tyr480=) n.260T>C c.1029T>C (p.Tyr343=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206127893A>T | CA350043411 | NDUFS1 | c.1788T>A (p.Tyr596Ter) c.1617T>A (p.Tyr539Ter) c.1455T>A (p.Tyr485Ter) c.1680T>A (p.Tyr560Ter) c.1830T>A (p.Tyr610Ter) c.1440T>A (p.Tyr480Ter) n.260T>A c.1029T>A (p.Tyr343Ter) | |
2 | g.206127895_206127896del | CA2662800944 | NDUFS1 | c.1787_1788del (p.Tyr596CysfsTer4) c.1616_1617del (p.Tyr539CysfsTer4) c.1454_1455del (p.Tyr485CysfsTer4) c.1679_1680del (p.Tyr560CysfsTer4) c.1829_1830del (p.Tyr610CysfsTer4) c.1439_1440del (p.Tyr480CysfsTer4) n.259_260del c.1028_1029del (p.Tyr343CysfsTer4) | gnomAD v4 |
2 | g.206127894T>A | CA350043417 | NDUFS1 | c.1787A>T (p.Tyr596Phe) c.1616A>T (p.Tyr539Phe) c.1454A>T (p.Tyr485Phe) c.1679A>T (p.Tyr560Phe) c.1829A>T (p.Tyr610Phe) c.1439A>T (p.Tyr480Phe) n.259A>T c.1028A>T (p.Tyr343Phe) | |
2 | g.206127894T>C | CA2070349 | NDUFS1 | c.1787A>G (p.Tyr596Cys) c.1616A>G (p.Tyr539Cys) c.1454A>G (p.Tyr485Cys) c.1679A>G (p.Tyr560Cys) c.1829A>G (p.Tyr610Cys) c.1439A>G (p.Tyr480Cys) n.259A>G c.1028A>G (p.Tyr343Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206127894T>G | CA350043416 | NDUFS1 | c.1787A>C (p.Tyr596Ser) c.1616A>C (p.Tyr539Ser) c.1454A>C (p.Tyr485Ser) c.1679A>C (p.Tyr560Ser) c.1829A>C (p.Tyr610Ser) c.1439A>C (p.Tyr480Ser) n.259A>C c.1028A>C (p.Tyr343Ser) | |
2 | g.206127894T= | CA2496479112 | NDUFS1 | c.1787A= (p.Tyr596=) c.1616A= (p.Tyr539=) c.1454A= (p.Tyr485=) c.1679A= (p.Tyr560=) c.1829A= (p.Tyr610=) c.1439A= (p.Tyr480=) n.259A= c.1028A= (p.Tyr343=) | |
2 | g.206127895A= | CA2496479113 | NDUFS1 | c.1786T= (p.Tyr596=) c.1615T= (p.Tyr539=) c.1453T= (p.Tyr485=) c.1678T= (p.Tyr560=) c.1828T= (p.Tyr610=) c.1438T= (p.Tyr480=) n.258T= c.1027T= (p.Tyr343=) | |
2 | g.206127895A>C | CA350043418 | NDUFS1 | c.1786T>G (p.Tyr596Asp) c.1615T>G (p.Tyr539Asp) c.1453T>G (p.Tyr485Asp) c.1678T>G (p.Tyr560Asp) c.1828T>G (p.Tyr610Asp) c.1438T>G (p.Tyr480Asp) n.258T>G c.1027T>G (p.Tyr343Asp) | |
2 | g.206127895A>G | CA350043421 | NDUFS1 | c.1786T>C (p.Tyr596His) c.1615T>C (p.Tyr539His) c.1453T>C (p.Tyr485His) c.1678T>C (p.Tyr560His) c.1828T>C (p.Tyr610His) c.1438T>C (p.Tyr480His) n.258T>C c.1027T>C (p.Tyr343His) | |
2 | g.206127895A>T | CA350043423 | NDUFS1 | c.1786T>A (p.Tyr596Asn) c.1615T>A (p.Tyr539Asn) c.1453T>A (p.Tyr485Asn) c.1678T>A (p.Tyr560Asn) c.1828T>A (p.Tyr610Asn) c.1438T>A (p.Tyr480Asn) n.258T>A c.1027T>A (p.Tyr343Asn) | |
2 | g.206127895dup | CA2070348 | NDUFS1 | c.1786dup (p.Tyr596LeufsTer5) c.1615dup (p.Tyr539LeufsTer5) c.1453dup (p.Tyr485LeufsTer5) c.1678dup (p.Tyr560LeufsTer5) c.1828dup (p.Tyr610LeufsTer5) c.1438dup (p.Tyr480LeufsTer5) n.258dup c.1027dup (p.Tyr343LeufsTer5) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206127896T>A | CA430943274 | NDUFS1 | c.1785A>T (p.Thr595=) c.1614A>T (p.Thr538=) c.1452A>T (p.Thr484=) c.1677A>T (p.Thr559=) c.1827A>T (p.Thr609=) c.1437A>T (p.Thr479=) n.257A>T c.1026A>T (p.Thr342=) | |
2 | g.206127896T>C | CA2070350 | NDUFS1 | c.1785A>G (p.Thr595=) c.1614A>G (p.Thr538=) c.1452A>G (p.Thr484=) c.1677A>G (p.Thr559=) c.1827A>G (p.Thr609=) c.1437A>G (p.Thr479=) n.257A>G c.1026A>G (p.Thr342=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206127896T>G | CA430943270 | NDUFS1 | c.1785A>C (p.Thr595=) c.1614A>C (p.Thr538=) c.1452A>C (p.Thr484=) c.1677A>C (p.Thr559=) c.1827A>C (p.Thr609=) c.1437A>C (p.Thr479=) n.257A>C c.1026A>C (p.Thr342=) | |
2 | g.206127896T= | CA2496479114 | NDUFS1 | c.1785A= (p.Thr595=) c.1614A= (p.Thr538=) c.1452A= (p.Thr484=) c.1677A= (p.Thr559=) c.1827A= (p.Thr609=) c.1437A= (p.Thr479=) n.257A= c.1026A= (p.Thr342=) | |
2 | g.206127896dup | CA539388280 | NDUFS1 | c.1785dup (p.Tyr596IlefsTer5) c.1614dup (p.Tyr539IlefsTer5) c.1452dup (p.Tyr485IlefsTer5) c.1677dup (p.Tyr560IlefsTer5) c.1827dup (p.Tyr610IlefsTer5) c.1437dup (p.Tyr480IlefsTer5) n.257dup c.1026dup (p.Tyr343IlefsTer5) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206127897G>A | CA350043427 | NDUFS1 | c.1784C>T (p.Thr595Ile) c.1613C>T (p.Thr538Ile) c.1451C>T (p.Thr484Ile) c.1676C>T (p.Thr559Ile) c.1826C>T (p.Thr609Ile) c.1436C>T (p.Thr479Ile) n.256C>T c.1025C>T (p.Thr342Ile) | |
2 | g.206127897G>C | CA350043433 | NDUFS1 | c.1784C>G (p.Thr595Arg) c.1613C>G (p.Thr538Arg) c.1451C>G (p.Thr484Arg) c.1676C>G (p.Thr559Arg) c.1826C>G (p.Thr609Arg) c.1436C>G (p.Thr479Arg) n.256C>G c.1025C>G (p.Thr342Arg) | |
2 | g.206127897G>T | CA350043429 | NDUFS1 | c.1784C>A (p.Thr595Lys) c.1613C>A (p.Thr538Lys) c.1451C>A (p.Thr484Lys) c.1676C>A (p.Thr559Lys) c.1826C>A (p.Thr609Lys) c.1436C>A (p.Thr479Lys) n.256C>A c.1025C>A (p.Thr342Lys) | |
2 | g.206127898T>A | CA350043442 | NDUFS1 | c.1783A>T (p.Thr595Ser) c.1612A>T (p.Thr538Ser) c.1450A>T (p.Thr484Ser) c.1675A>T (p.Thr559Ser) c.1825A>T (p.Thr609Ser) c.1435A>T (p.Thr479Ser) n.255A>T c.1024A>T (p.Thr342Ser) | |
2 | g.206127898T>C | CA129896 | NDUFS1 | c.1783A>G (p.Thr595Ala) c.1612A>G (p.Thr538Ala) c.1450A>G (p.Thr484Ala) c.1675A>G (p.Thr559Ala) c.1825A>G (p.Thr609Ala) c.1435A>G (p.Thr479Ala) n.255A>G c.1024A>G (p.Thr342Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206127898T>G | CA350043453 | NDUFS1 | c.1783A>C (p.Thr595Pro) c.1612A>C (p.Thr538Pro) c.1450A>C (p.Thr484Pro) c.1675A>C (p.Thr559Pro) c.1825A>C (p.Thr609Pro) c.1435A>C (p.Thr479Pro) n.255A>C c.1024A>C (p.Thr342Pro) | |
2 | g.206127898T= | CA2496479115 | NDUFS1 | c.1783A= (p.Thr595=) c.1612A= (p.Thr538=) c.1450A= (p.Thr484=) c.1675A= (p.Thr559=) c.1825A= (p.Thr609=) c.1435A= (p.Thr479=) n.255A= c.1024A= (p.Thr342=) | |
2 | g.206127899A>C | CA430943283 | NDUFS1 | c.1782T>G (p.Ala594=) c.1611T>G (p.Ala537=) c.1449T>G (p.Ala483=) c.1674T>G (p.Ala558=) c.1824T>G (p.Ala608=) c.1434T>G (p.Ala478=) n.254T>G c.1023T>G (p.Ala341=) | |
2 | g.206127899A>G | CA430943287 | NDUFS1 | c.1782T>C (p.Ala594=) c.1611T>C (p.Ala537=) c.1449T>C (p.Ala483=) c.1674T>C (p.Ala558=) c.1824T>C (p.Ala608=) c.1434T>C (p.Ala478=) n.254T>C c.1023T>C (p.Ala341=) | |
2 | g.206127899A>T | CA430943289 | NDUFS1 | c.1782T>A (p.Ala594=) c.1611T>A (p.Ala537=) c.1449T>A (p.Ala483=) c.1674T>A (p.Ala558=) c.1824T>A (p.Ala608=) c.1434T>A (p.Ala478=) n.254T>A c.1023T>A (p.Ala341=) | |
2 | g.206127900G>A | CA350043457 | NDUFS1 | c.1781C>T (p.Ala594Val) c.1610C>T (p.Ala537Val) c.1448C>T (p.Ala483Val) c.1673C>T (p.Ala558Val) c.1823C>T (p.Ala608Val) c.1433C>T (p.Ala478Val) n.253C>T c.1022C>T (p.Ala341Val) | gnomAD v4 |
2 | g.206127900G>C | CA350043458 | NDUFS1 | c.1781C>G (p.Ala594Gly) c.1610C>G (p.Ala537Gly) c.1448C>G (p.Ala483Gly) c.1673C>G (p.Ala558Gly) c.1823C>G (p.Ala608Gly) c.1433C>G (p.Ala478Gly) n.253C>G c.1022C>G (p.Ala341Gly) | |
2 | g.206127900G>T | CA350043462 | NDUFS1 | c.1781C>A (p.Ala594Asp) c.1610C>A (p.Ala537Asp) c.1448C>A (p.Ala483Asp) c.1673C>A (p.Ala558Asp) c.1823C>A (p.Ala608Asp) c.1433C>A (p.Ala478Asp) n.253C>A c.1022C>A (p.Ala341Asp) | |
2 | g.206127901C>A | CA350043473 | NDUFS1 | c.1780G>T (p.Ala594Ser) c.1609G>T (p.Ala537Ser) c.1447G>T (p.Ala483Ser) c.1672G>T (p.Ala558Ser) c.1822G>T (p.Ala608Ser) c.1432G>T (p.Ala478Ser) n.252G>T c.1021G>T (p.Ala341Ser) | gnomAD v4 |
2 | g.206127901C= | CA2496479116 | NDUFS1 | c.1780G= (p.Ala594=) c.1609G= (p.Ala537=) c.1447G= (p.Ala483=) c.1672G= (p.Ala558=) c.1822G= (p.Ala608=) c.1432G= (p.Ala478=) n.252G= c.1021G= (p.Ala341=) | |
2 | g.206127901C>G | CA350043476 | NDUFS1 | c.1780G>C (p.Ala594Pro) c.1609G>C (p.Ala537Pro) c.1447G>C (p.Ala483Pro) c.1672G>C (p.Ala558Pro) c.1822G>C (p.Ala608Pro) c.1432G>C (p.Ala478Pro) n.252G>C c.1021G>C (p.Ala341Pro) | |
2 | g.206127901C>T | CA63648684 | NDUFS1 | c.1780G>A (p.Ala594Thr) c.1609G>A (p.Ala537Thr) c.1447G>A (p.Ala483Thr) c.1672G>A (p.Ala558Thr) c.1822G>A (p.Ala608Thr) c.1432G>A (p.Ala478Thr) n.252G>A c.1021G>A (p.Ala341Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206127902A= | CA2496479117 | NDUFS1 | c.1779T= (p.Ser593=) c.1608T= (p.Ser536=) c.1446T= (p.Ser482=) c.1671T= (p.Ser557=) c.1821T= (p.Ser607=) c.1431T= (p.Ser477=) n.251T= c.1020T= (p.Ser340=) | |
2 | g.206127902A>C | CA430943304 | NDUFS1 | c.1779T>G (p.Ser593=) c.1608T>G (p.Ser536=) c.1446T>G (p.Ser482=) c.1671T>G (p.Ser557=) c.1821T>G (p.Ser607=) c.1431T>G (p.Ser477=) n.251T>G c.1020T>G (p.Ser340=) | dbSNP COSMIC COSMIC |
2 | g.206127902A>G | CA430943308 | NDUFS1 | c.1779T>C (p.Ser593=) c.1608T>C (p.Ser536=) c.1446T>C (p.Ser482=) c.1671T>C (p.Ser557=) c.1821T>C (p.Ser607=) c.1431T>C (p.Ser477=) n.251T>C c.1020T>C (p.Ser340=) | |
2 | g.206127902A>T | CA430943307 | NDUFS1 | c.1779T>A (p.Ser593=) c.1608T>A (p.Ser536=) c.1446T>A (p.Ser482=) c.1671T>A (p.Ser557=) c.1821T>A (p.Ser607=) c.1431T>A (p.Ser477=) n.251T>A c.1020T>A (p.Ser340=) | |
2 | g.206127903G>A | CA350043478 | NDUFS1 | c.1778C>T (p.Ser593Phe) c.1607C>T (p.Ser536Phe) c.1445C>T (p.Ser482Phe) c.1670C>T (p.Ser557Phe) c.1820C>T (p.Ser607Phe) c.1430C>T (p.Ser477Phe) n.250C>T c.1019C>T (p.Ser340Phe) | |
2 | g.206127903G>C | CA2070351 | NDUFS1 | c.1778C>G (p.Ser593Cys) c.1607C>G (p.Ser536Cys) c.1445C>G (p.Ser482Cys) c.1670C>G (p.Ser557Cys) c.1820C>G (p.Ser607Cys) c.1430C>G (p.Ser477Cys) n.250C>G c.1019C>G (p.Ser340Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206127903G= | CA2496479118 | NDUFS1 | c.1778C= (p.Ser593=) c.1607C= (p.Ser536=) c.1445C= (p.Ser482=) c.1670C= (p.Ser557=) c.1820C= (p.Ser607=) c.1430C= (p.Ser477=) n.250C= c.1019C= (p.Ser340=) | |
2 | g.206127903G>T | CA350043479 | NDUFS1 | c.1778C>A (p.Ser593Tyr) c.1607C>A (p.Ser536Tyr) c.1445C>A (p.Ser482Tyr) c.1670C>A (p.Ser557Tyr) c.1820C>A (p.Ser607Tyr) c.1430C>A (p.Ser477Tyr) n.250C>A c.1019C>A (p.Ser340Tyr) | |
2 | g.206127904A>C | CA350043482 | NDUFS1 | c.1777T>G (p.Ser593Ala) c.1606T>G (p.Ser536Ala) c.1444T>G (p.Ser482Ala) c.1669T>G (p.Ser557Ala) c.1819T>G (p.Ser607Ala) c.1429T>G (p.Ser477Ala) n.249T>G c.1018T>G (p.Ser340Ala) | gnomAD v4 |
2 | g.206127904A>G | CA350043483 | NDUFS1 | c.1777T>C (p.Ser593Pro) c.1606T>C (p.Ser536Pro) c.1444T>C (p.Ser482Pro) c.1669T>C (p.Ser557Pro) c.1819T>C (p.Ser607Pro) c.1429T>C (p.Ser477Pro) n.249T>C c.1018T>C (p.Ser340Pro) | |
2 | g.206127904A>T | CA350043487 | NDUFS1 | c.1777T>A (p.Ser593Thr) c.1606T>A (p.Ser536Thr) c.1444T>A (p.Ser482Thr) c.1669T>A (p.Ser557Thr) c.1819T>A (p.Ser607Thr) c.1429T>A (p.Ser477Thr) n.249T>A c.1018T>A (p.Ser340Thr) | gnomAD v4 |
2 | g.206127905C>A | CA350043490 | NDUFS1 | c.1776G>T (p.Lys592Asn) c.1605G>T (p.Lys535Asn) c.1443G>T (p.Lys481Asn) c.1668G>T (p.Lys556Asn) c.1818G>T (p.Lys606Asn) c.1428G>T (p.Lys476Asn) n.248G>T c.1017G>T (p.Lys339Asn) | ClinVar COSMIC |
2 | g.206127905C>G | CA350043491 | NDUFS1 | c.1776G>C (p.Lys592Asn) c.1605G>C (p.Lys535Asn) c.1443G>C (p.Lys481Asn) c.1668G>C (p.Lys556Asn) c.1818G>C (p.Lys606Asn) c.1428G>C (p.Lys476Asn) n.248G>C c.1017G>C (p.Lys339Asn) | |
2 | g.206127905C>T | CA430943322 | NDUFS1 | c.1776G>A (p.Lys592=) c.1605G>A (p.Lys535=) c.1443G>A (p.Lys481=) c.1668G>A (p.Lys556=) c.1818G>A (p.Lys606=) c.1428G>A (p.Lys476=) n.248G>A c.1017G>A (p.Lys339=) | |
2 | g.206127906T>A | CA350043494 | NDUFS1 | c.1775A>T (p.Lys592Met) c.1604A>T (p.Lys535Met) c.1442A>T (p.Lys481Met) c.1667A>T (p.Lys556Met) c.1817A>T (p.Lys606Met) c.1427A>T (p.Lys476Met) n.247A>T c.1016A>T (p.Lys339Met) | |
2 | g.206127906T>C | CA350043495 | NDUFS1 | c.1775A>G (p.Lys592Arg) c.1604A>G (p.Lys535Arg) c.1442A>G (p.Lys481Arg) c.1667A>G (p.Lys556Arg) c.1817A>G (p.Lys606Arg) c.1427A>G (p.Lys476Arg) n.247A>G c.1016A>G (p.Lys339Arg) | |
2 | g.206127906T>G | CA350043500 | NDUFS1 | c.1775A>C (p.Lys592Thr) c.1604A>C (p.Lys535Thr) c.1442A>C (p.Lys481Thr) c.1667A>C (p.Lys556Thr) c.1817A>C (p.Lys606Thr) c.1427A>C (p.Lys476Thr) n.247A>C c.1016A>C (p.Lys339Thr) | |
2 | g.206127907T>A | CA350043502 | NDUFS1 | c.1774A>T (p.Lys592Ter) c.1603A>T (p.Lys535Ter) c.1441A>T (p.Lys481Ter) c.1666A>T (p.Lys556Ter) c.1816A>T (p.Lys606Ter) c.1426A>T (p.Lys476Ter) n.246A>T c.1015A>T (p.Lys339Ter) | |
2 | g.206127907T>C | CA350043503 | NDUFS1 | c.1774A>G (p.Lys592Glu) c.1603A>G (p.Lys535Glu) c.1441A>G (p.Lys481Glu) c.1666A>G (p.Lys556Glu) c.1816A>G (p.Lys606Glu) c.1426A>G (p.Lys476Glu) n.246A>G c.1015A>G (p.Lys339Glu) | |
2 | g.206127907T>G | CA350043504 | NDUFS1 | c.1774A>C (p.Lys592Gln) c.1603A>C (p.Lys535Gln) c.1441A>C (p.Lys481Gln) c.1666A>C (p.Lys556Gln) c.1816A>C (p.Lys606Gln) c.1426A>C (p.Lys476Gln) n.246A>C c.1015A>C (p.Lys339Gln) | |
2 | g.206127910_206127911dup | CA2695197008 | NDUFS1 | c.1773_1774dup (p.Lys592ArgfsTer18) c.1602_1603dup (p.Lys535ArgfsTer18) c.1440_1441dup (p.Lys481ArgfsTer18) c.1665_1666dup (p.Lys556ArgfsTer18) c.1815_1816dup (p.Lys606ArgfsTer18) c.1425_1426dup (p.Lys476ArgfsTer18) n.245_246dup c.1014_1015dup (p.Lys339ArgfsTer18) | ClinVar |
2 | g.206127908C>A | CA350043505 | NDUFS1 | c.1773G>T (p.Glu591Asp) c.1602G>T (p.Glu534Asp) c.1440G>T (p.Glu480Asp) c.1665G>T (p.Glu555Asp) c.1815G>T (p.Glu605Asp) c.1425G>T (p.Glu475Asp) n.245G>T c.1014G>T (p.Glu338Asp) | |
2 | g.206127908C>G | CA350043506 | NDUFS1 | c.1773G>C (p.Glu591Asp) c.1602G>C (p.Glu534Asp) c.1440G>C (p.Glu480Asp) c.1665G>C (p.Glu555Asp) c.1815G>C (p.Glu605Asp) c.1425G>C (p.Glu475Asp) n.245G>C c.1014G>C (p.Glu338Asp) | |
2 | g.206127908C>T | CA430943337 | NDUFS1 | c.1773G>A (p.Glu591=) c.1602G>A (p.Glu534=) c.1440G>A (p.Glu480=) c.1665G>A (p.Glu555=) c.1815G>A (p.Glu605=) c.1425G>A (p.Glu475=) n.245G>A c.1014G>A (p.Glu338=) | |
2 | g.206127909T>A | CA350043509 | NDUFS1 | c.1772A>T (p.Glu591Val) c.1601A>T (p.Glu534Val) c.1439A>T (p.Glu480Val) c.1664A>T (p.Glu555Val) c.1814A>T (p.Glu605Val) c.1424A>T (p.Glu475Val) n.244A>T c.1013A>T (p.Glu338Val) | |
2 | g.206127909T>C | CA63648701 | NDUFS1 | c.1772A>G (p.Glu591Gly) c.1601A>G (p.Glu534Gly) c.1439A>G (p.Glu480Gly) c.1664A>G (p.Glu555Gly) c.1814A>G (p.Glu605Gly) c.1424A>G (p.Glu475Gly) n.244A>G c.1013A>G (p.Glu338Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.206127909T>G | CA350043514 | NDUFS1 | c.1772A>C (p.Glu591Ala) c.1601A>C (p.Glu534Ala) c.1439A>C (p.Glu480Ala) c.1664A>C (p.Glu555Ala) c.1814A>C (p.Glu605Ala) c.1424A>C (p.Glu475Ala) n.244A>C c.1013A>C (p.Glu338Ala) | |
2 | g.206127909T= | CA2496479119 | NDUFS1 | c.1772A= (p.Glu591=) c.1601A= (p.Glu534=) c.1439A= (p.Glu480=) c.1664A= (p.Glu555=) c.1814A= (p.Glu605=) c.1424A= (p.Glu475=) n.244A= c.1013A= (p.Glu338=) | |
2 | g.206127910C>A | CA350043523 | NDUFS1 | c.1771G>T (p.Glu591Ter) c.1600G>T (p.Glu534Ter) c.1438G>T (p.Glu480Ter) c.1663G>T (p.Glu555Ter) c.1813G>T (p.Glu605Ter) c.1423G>T (p.Glu475Ter) n.243G>T c.1012G>T (p.Glu338Ter) | |
2 | g.206127910C>G | CA350043526 | NDUFS1 | c.1771G>C (p.Glu591Gln) c.1600G>C (p.Glu534Gln) c.1438G>C (p.Glu480Gln) c.1663G>C (p.Glu555Gln) c.1813G>C (p.Glu605Gln) c.1423G>C (p.Glu475Gln) n.243G>C c.1012G>C (p.Glu338Gln) | |
2 | g.206127910C>T | CA350043521 | NDUFS1 | c.1771G>A (p.Glu591Lys) c.1600G>A (p.Glu534Lys) c.1438G>A (p.Glu480Lys) c.1663G>A (p.Glu555Lys) c.1813G>A (p.Glu605Lys) c.1423G>A (p.Glu475Lys) n.243G>A c.1012G>A (p.Glu338Lys) | |
2 | g.206127911T>A | CA430943347 | NDUFS1 | c.1770A>T (p.Thr590=) c.1599A>T (p.Thr533=) c.1437A>T (p.Thr479=) c.1662A>T (p.Thr554=) c.1812A>T (p.Thr604=) c.1422A>T (p.Thr474=) n.242A>T c.1011A>T (p.Thr337=) | |
2 | g.206127911T>C | CA430943349 | NDUFS1 | c.1770A>G (p.Thr590=) c.1599A>G (p.Thr533=) c.1437A>G (p.Thr479=) c.1662A>G (p.Thr554=) c.1812A>G (p.Thr604=) c.1422A>G (p.Thr474=) n.242A>G c.1011A>G (p.Thr337=) | |
2 | g.206127911T>G | CA430943351 | NDUFS1 | c.1770A>C (p.Thr590=) c.1599A>C (p.Thr533=) c.1437A>C (p.Thr479=) c.1662A>C (p.Thr554=) c.1812A>C (p.Thr604=) c.1422A>C (p.Thr474=) n.242A>C c.1011A>C (p.Thr337=) | dbSNP gnomAD v2 |
2 | g.206127911T= | CA2496479120 | NDUFS1 | c.1770A= (p.Thr590=) c.1599A= (p.Thr533=) c.1437A= (p.Thr479=) c.1662A= (p.Thr554=) c.1812A= (p.Thr604=) c.1422A= (p.Thr474=) n.242A= c.1011A= (p.Thr337=) | |
2 | g.206127912G>A | CA350043531 | NDUFS1 | c.1769C>T (p.Thr590Ile) c.1598C>T (p.Thr533Ile) c.1436C>T (p.Thr479Ile) c.1661C>T (p.Thr554Ile) c.1811C>T (p.Thr604Ile) c.1421C>T (p.Thr474Ile) n.241C>T c.1010C>T (p.Thr337Ile) | dbSNP |
2 | g.206127912G>C | CA350043539 | NDUFS1 | c.1769C>G (p.Thr590Arg) c.1598C>G (p.Thr533Arg) c.1436C>G (p.Thr479Arg) c.1661C>G (p.Thr554Arg) c.1811C>G (p.Thr604Arg) c.1421C>G (p.Thr474Arg) n.241C>G c.1010C>G (p.Thr337Arg) | |
2 | g.206127912G= | CA2496479121 | NDUFS1 | c.1769C= (p.Thr590=) c.1598C= (p.Thr533=) c.1436C= (p.Thr479=) c.1661C= (p.Thr554=) c.1811C= (p.Thr604=) c.1421C= (p.Thr474=) n.241C= c.1010C= (p.Thr337=) | |
2 | g.206127912G>T | CA350043542 | NDUFS1 | c.1769C>A (p.Thr590Lys) c.1598C>A (p.Thr533Lys) c.1436C>A (p.Thr479Lys) c.1661C>A (p.Thr554Lys) c.1811C>A (p.Thr604Lys) c.1421C>A (p.Thr474Lys) n.241C>A c.1010C>A (p.Thr337Lys) | |
2 | g.206127913T>A | CA350043546 | NDUFS1 | c.1768A>T (p.Thr590Ser) c.1597A>T (p.Thr533Ser) c.1435A>T (p.Thr479Ser) c.1660A>T (p.Thr554Ser) c.1810A>T (p.Thr604Ser) c.1420A>T (p.Thr474Ser) n.240A>T c.1009A>T (p.Thr337Ser) | |
2 | g.206127913T>C | CA350043552 | NDUFS1 | c.1768A>G (p.Thr590Ala) c.1597A>G (p.Thr533Ala) c.1435A>G (p.Thr479Ala) c.1660A>G (p.Thr554Ala) c.1810A>G (p.Thr604Ala) c.1420A>G (p.Thr474Ala) n.240A>G c.1009A>G (p.Thr337Ala) | |
2 | g.206127913T>G | CA350043555 | NDUFS1 | c.1768A>C (p.Thr590Pro) c.1597A>C (p.Thr533Pro) c.1435A>C (p.Thr479Pro) c.1660A>C (p.Thr554Pro) c.1810A>C (p.Thr604Pro) c.1420A>C (p.Thr474Pro) n.240A>C c.1009A>C (p.Thr337Pro) | |
2 | g.206127913T= | CA2496479122 | NDUFS1 | c.1768A= (p.Thr590=) c.1597A= (p.Thr533=) c.1435A= (p.Thr479=) c.1660A= (p.Thr554=) c.1810A= (p.Thr604=) c.1420A= (p.Thr474=) n.240A= c.1009A= (p.Thr337=) | |
2 | g.206127914G>A | CA430943362 | NDUFS1 | c.1767C>T (p.Tyr589=) c.1596C>T (p.Tyr532=) c.1434C>T (p.Tyr478=) c.1659C>T (p.Tyr553=) c.1809C>T (p.Tyr603=) c.1419C>T (p.Tyr473=) n.239C>T c.1008C>T (p.Tyr336=) | |
2 | g.206127914G>C | CA350043559 | NDUFS1 | c.1767C>G (p.Tyr589Ter) c.1596C>G (p.Tyr532Ter) c.1434C>G (p.Tyr478Ter) c.1659C>G (p.Tyr553Ter) c.1809C>G (p.Tyr603Ter) c.1419C>G (p.Tyr473Ter) n.239C>G c.1008C>G (p.Tyr336Ter) | COSMIC |
2 | g.206127914G>T | CA350043557 | NDUFS1 | c.1767C>A (p.Tyr589Ter) c.1596C>A (p.Tyr532Ter) c.1434C>A (p.Tyr478Ter) c.1659C>A (p.Tyr553Ter) c.1809C>A (p.Tyr603Ter) c.1419C>A (p.Tyr473Ter) n.239C>A c.1008C>A (p.Tyr336Ter) | |
2 | g.206127914dup | CA539388281 | NDUFS1 | c.1767dup (p.Thr590HisfsTer11) c.1596dup (p.Thr533HisfsTer11) c.1434dup (p.Thr479HisfsTer11) c.1659dup (p.Thr554HisfsTer11) c.1809dup (p.Thr604HisfsTer11) c.1419dup (p.Thr474HisfsTer11) n.239dup c.1008dup (p.Thr337HisfsTer11) | dbSNP gnomAD v2 |
2 | g.206127915T>A | CA350043563 | NDUFS1 | c.1766A>T (p.Tyr589Phe) c.1595A>T (p.Tyr532Phe) c.1433A>T (p.Tyr478Phe) c.1658A>T (p.Tyr553Phe) c.1808A>T (p.Tyr603Phe) c.1418A>T (p.Tyr473Phe) n.238A>T c.1007A>T (p.Tyr336Phe) | |
2 | g.206127915T>C | CA350043567 | NDUFS1 | c.1766A>G (p.Tyr589Cys) c.1595A>G (p.Tyr532Cys) c.1433A>G (p.Tyr478Cys) c.1658A>G (p.Tyr553Cys) c.1808A>G (p.Tyr603Cys) c.1418A>G (p.Tyr473Cys) n.238A>G c.1007A>G (p.Tyr336Cys) | |
2 | g.206127915T>G | CA350043569 | NDUFS1 | c.1766A>C (p.Tyr589Ser) c.1595A>C (p.Tyr532Ser) c.1433A>C (p.Tyr478Ser) c.1658A>C (p.Tyr553Ser) c.1808A>C (p.Tyr603Ser) c.1418A>C (p.Tyr473Ser) n.238A>C c.1007A>C (p.Tyr336Ser) | |
2 | g.206127915T= | CA2496479123 | NDUFS1 | c.1766A= (p.Tyr589=) c.1595A= (p.Tyr532=) c.1433A= (p.Tyr478=) c.1658A= (p.Tyr553=) c.1808A= (p.Tyr603=) c.1418A= (p.Tyr473=) n.238A= c.1007A= (p.Tyr336=) | |
2 | g.206127915_206127918delinsTAAG | CA2496479124 | NDUFS1 | c.1763_1766delinsCTTA (p.Ala588=) c.1592_1595delinsCTTA (p.Ala531=) c.1430_1433delinsCTTA (p.Ala477=) c.1655_1658delinsCTTA (p.Ala552=) c.1805_1808delinsCTTA (p.Ala602=) c.1415_1418delinsCTTA (p.Ala472=) n.235_238delinsCTTA c.1004_1007delinsCTTA (p.Ala335=) | |
2 | g.206127915_206127916insCGCCGTATCATTAAAAAA | CA539388282 | NDUFS1 | c.1765_1766insTTTTTTAATGATACGGCG (p.Tyr589PhefsTer3) c.1594_1595insTTTTTTAATGATACGGCG (p.Tyr532PhefsTer3) c.1432_1433insTTTTTTAATGATACGGCG (p.Tyr478PhefsTer3) c.1657_1658insTTTTTTAATGATACGGCG (p.Tyr553PhefsTer3) c.1807_1808insTTTTTTAATGATACGGCG (p.Tyr603PhefsTer3) c.1417_1418insTTTTTTAATGATACGGCG (p.Tyr473PhefsTer3) n.237_238insTTTTTTAATGATACGGCG c.1006_1007insTTTTTTAATGATACGGCG (p.Tyr336PhefsTer3) | dbSNP gnomAD v2 |
2 | g.206127916A>C | CA350043571 | NDUFS1 | c.1765T>G (p.Tyr589Asp) c.1594T>G (p.Tyr532Asp) c.1432T>G (p.Tyr478Asp) c.1657T>G (p.Tyr553Asp) c.1807T>G (p.Tyr603Asp) c.1417T>G (p.Tyr473Asp) n.237T>G c.1006T>G (p.Tyr336Asp) | |
2 | g.206127916A>G | CA350043573 | NDUFS1 | c.1765T>C (p.Tyr589His) c.1594T>C (p.Tyr532His) c.1432T>C (p.Tyr478His) c.1657T>C (p.Tyr553His) c.1807T>C (p.Tyr603His) c.1417T>C (p.Tyr473His) n.237T>C c.1006T>C (p.Tyr336His) | |
2 | g.206127916A>T | CA350043576 | NDUFS1 | c.1765T>A (p.Tyr589Asn) c.1594T>A (p.Tyr532Asn) c.1432T>A (p.Tyr478Asn) c.1657T>A (p.Tyr553Asn) c.1807T>A (p.Tyr603Asn) c.1417T>A (p.Tyr473Asn) n.237T>A c.1006T>A (p.Tyr336Asn) | |
2 | g.206127917del | CA2553789006 | NDUFS1 | c.1765del (p.Tyr589ThrfsTer20) c.1594del (p.Tyr532ThrfsTer20) c.1432del (p.Tyr478ThrfsTer20) c.1657del (p.Tyr553ThrfsTer20) c.1807del (p.Tyr603ThrfsTer20) c.1417del (p.Tyr473ThrfsTer20) n.237del c.1006del (p.Tyr336ThrfsTer20) | |
2 | g.206127916_206127918del | CA2496479125 | NDUFS1 | c.1763_1765del (p.Ala588_Tyr589delinsAsp) c.1592_1594del (p.Ala531_Tyr532delinsAsp) c.1430_1432del (p.Ala477_Tyr478delinsAsp) c.1655_1657del (p.Ala552_Tyr553delinsAsp) c.1805_1807del (p.Ala602_Tyr603delinsAsp) c.1415_1417del (p.Ala472_Tyr473delinsAsp) n.235_237del c.1004_1006del (p.Ala335_Tyr336delinsAsp) | dbSNP |
2 | g.206127917A= | CA2496479126 | NDUFS1 | c.1764T= (p.Ala588=) c.1593T= (p.Ala531=) c.1431T= (p.Ala477=) c.1656T= (p.Ala552=) c.1806T= (p.Ala602=) c.1416T= (p.Ala472=) n.236T= c.1005T= (p.Ala335=) | |
2 | g.206127917A>C | CA430943378 | NDUFS1 | c.1764T>G (p.Ala588=) c.1593T>G (p.Ala531=) c.1431T>G (p.Ala477=) c.1656T>G (p.Ala552=) c.1806T>G (p.Ala602=) c.1416T>G (p.Ala472=) n.236T>G c.1005T>G (p.Ala335=) | |
2 | g.206127917A>G | CA430943382 | NDUFS1 | c.1764T>C (p.Ala588=) c.1593T>C (p.Ala531=) c.1431T>C (p.Ala477=) c.1656T>C (p.Ala552=) c.1806T>C (p.Ala602=) c.1416T>C (p.Ala472=) n.236T>C c.1005T>C (p.Ala335=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206127917A>T | CA430943385 | NDUFS1 | c.1764T>A (p.Ala588=) c.1593T>A (p.Ala531=) c.1431T>A (p.Ala477=) c.1656T>A (p.Ala552=) c.1806T>A (p.Ala602=) c.1416T>A (p.Ala472=) n.236T>A c.1005T>A (p.Ala335=) | |
2 | g.206127918G>A | CA350043579 | NDUFS1 | c.1763C>T (p.Ala588Val) c.1592C>T (p.Ala531Val) c.1430C>T (p.Ala477Val) c.1655C>T (p.Ala552Val) c.1805C>T (p.Ala602Val) c.1415C>T (p.Ala472Val) n.235C>T c.1004C>T (p.Ala335Val) | dbSNP |
2 | g.206127918G>C | CA350043585 | NDUFS1 | c.1763C>G (p.Ala588Gly) c.1592C>G (p.Ala531Gly) c.1430C>G (p.Ala477Gly) c.1655C>G (p.Ala552Gly) c.1805C>G (p.Ala602Gly) c.1415C>G (p.Ala472Gly) n.235C>G c.1004C>G (p.Ala335Gly) | |
2 | g.206127918G= | CA2496479127 | NDUFS1 | c.1763C= (p.Ala588=) c.1592C= (p.Ala531=) c.1430C= (p.Ala477=) c.1655C= (p.Ala552=) c.1805C= (p.Ala602=) c.1415C= (p.Ala472=) n.235C= c.1004C= (p.Ala335=) | |
2 | g.206127918G>T | CA350043582 | NDUFS1 | c.1763C>A (p.Ala588Asp) c.1592C>A (p.Ala531Asp) c.1430C>A (p.Ala477Asp) c.1655C>A (p.Ala552Asp) c.1805C>A (p.Ala602Asp) c.1415C>A (p.Ala472Asp) n.235C>A c.1004C>A (p.Ala335Asp) | |
2 | g.206127919C>A | CA350043590 | NDUFS1 | c.1762G>T (p.Ala588Ser) c.1591G>T (p.Ala531Ser) c.1429G>T (p.Ala477Ser) c.1654G>T (p.Ala552Ser) c.1804G>T (p.Ala602Ser) c.1414G>T (p.Ala472Ser) n.234G>T c.1003G>T (p.Ala335Ser) | |
2 | g.206127919C= | CA2496479128 | NDUFS1 | c.1762G= (p.Ala588=) c.1591G= (p.Ala531=) c.1429G= (p.Ala477=) c.1654G= (p.Ala552=) c.1804G= (p.Ala602=) c.1414G= (p.Ala472=) n.234G= c.1003G= (p.Ala335=) | |
2 | g.206127919C>G | CA350043593 | NDUFS1 | c.1762G>C (p.Ala588Pro) c.1591G>C (p.Ala531Pro) c.1429G>C (p.Ala477Pro) c.1654G>C (p.Ala552Pro) c.1804G>C (p.Ala602Pro) c.1414G>C (p.Ala472Pro) n.234G>C c.1003G>C (p.Ala335Pro) | |
2 | g.206127919C>T | CA350043596 | NDUFS1 | c.1762G>A (p.Ala588Thr) c.1591G>A (p.Ala531Thr) c.1429G>A (p.Ala477Thr) c.1654G>A (p.Ala552Thr) c.1804G>A (p.Ala602Thr) c.1414G>A (p.Ala472Thr) n.234G>A c.1003G>A (p.Ala335Thr) | dbSNP gnomAD v4 |
2 | g.206127920A= | CA2496479129 | NDUFS1 | c.1761T= (p.Ala587=) c.1590T= (p.Ala530=) c.1428T= (p.Ala476=) c.1653T= (p.Ala551=) c.1803T= (p.Ala601=) c.1413T= (p.Ala471=) n.233T= c.1002T= (p.Ala334=) | |
2 | g.206127920A>C | CA430943393 | NDUFS1 | c.1761T>G (p.Ala587=) c.1590T>G (p.Ala530=) c.1428T>G (p.Ala476=) c.1653T>G (p.Ala551=) c.1803T>G (p.Ala601=) c.1413T>G (p.Ala471=) n.233T>G c.1002T>G (p.Ala334=) | |
2 | g.206127920A>G | CA430943394 | NDUFS1 | c.1761T>C (p.Ala587=) c.1590T>C (p.Ala530=) c.1428T>C (p.Ala476=) c.1653T>C (p.Ala551=) c.1803T>C (p.Ala601=) c.1413T>C (p.Ala471=) n.233T>C c.1002T>C (p.Ala334=) | |
2 | g.206127920A>T | CA430943396 | NDUFS1 | c.1761T>A (p.Ala587=) c.1590T>A (p.Ala530=) c.1428T>A (p.Ala476=) c.1653T>A (p.Ala551=) c.1803T>A (p.Ala601=) c.1413T>A (p.Ala471=) n.233T>A c.1002T>A (p.Ala334=) | dbSNP |
2 | g.206127921G>A | CA350043597 | NDUFS1 | c.1760C>T (p.Ala587Val) c.1589C>T (p.Ala530Val) c.1427C>T (p.Ala476Val) c.1652C>T (p.Ala551Val) c.1802C>T (p.Ala601Val) c.1412C>T (p.Ala471Val) n.232C>T c.1001C>T (p.Ala334Val) | |
2 | g.206127921G>C | CA2070352 | NDUFS1 | c.1760C>G (p.Ala587Gly) c.1589C>G (p.Ala530Gly) c.1427C>G (p.Ala476Gly) c.1652C>G (p.Ala551Gly) c.1802C>G (p.Ala601Gly) c.1412C>G (p.Ala471Gly) n.232C>G c.1001C>G (p.Ala334Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206127921G= | CA2496479130 | NDUFS1 | c.1760C= (p.Ala587=) c.1589C= (p.Ala530=) c.1427C= (p.Ala476=) c.1652C= (p.Ala551=) c.1802C= (p.Ala601=) c.1412C= (p.Ala471=) n.232C= c.1001C= (p.Ala334=) | |
2 | g.206127921G>T | CA350043601 | NDUFS1 | c.1760C>A (p.Ala587Asp) c.1589C>A (p.Ala530Asp) c.1427C>A (p.Ala476Asp) c.1652C>A (p.Ala551Asp) c.1802C>A (p.Ala601Asp) c.1412C>A (p.Ala471Asp) n.232C>A c.1001C>A (p.Ala334Asp) | |
2 | g.206127922C>A | CA350043605 | NDUFS1 | c.1759G>T (p.Ala587Ser) c.1588G>T (p.Ala530Ser) c.1426G>T (p.Ala476Ser) c.1651G>T (p.Ala551Ser) c.1801G>T (p.Ala601Ser) c.1411G>T (p.Ala471Ser) n.231G>T c.1000G>T (p.Ala334Ser) | |
2 | g.206127922C= | CA2496479131 | NDUFS1 | c.1759G= (p.Ala587=) c.1588G= (p.Ala530=) c.1426G= (p.Ala476=) c.1651G= (p.Ala551=) c.1801G= (p.Ala601=) c.1411G= (p.Ala471=) n.231G= c.1000G= (p.Ala334=) | |
2 | g.206127922C>G | CA2070353 | NDUFS1 | c.1759G>C (p.Ala587Pro) c.1588G>C (p.Ala530Pro) c.1426G>C (p.Ala476Pro) c.1651G>C (p.Ala551Pro) c.1801G>C (p.Ala601Pro) c.1411G>C (p.Ala471Pro) n.231G>C c.1000G>C (p.Ala334Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206127922C>T | CA2070354 | NDUFS1 | c.1759G>A (p.Ala587Thr) c.1588G>A (p.Ala530Thr) c.1426G>A (p.Ala476Thr) c.1651G>A (p.Ala551Thr) c.1801G>A (p.Ala601Thr) c.1411G>A (p.Ala471Thr) n.231G>A c.1000G>A (p.Ala334Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206127923T>A | CA430943409 | NDUFS1 | c.1758A>T (p.Gly586=) c.1587A>T (p.Gly529=) c.1425A>T (p.Gly475=) c.1650A>T (p.Gly550=) c.1800A>T (p.Gly600=) c.1410A>T (p.Gly470=) n.230A>T c.999A>T (p.Gly333=) | |
2 | g.206127923T>C | CA430943411 | NDUFS1 | c.1758A>G (p.Gly586=) c.1587A>G (p.Gly529=) c.1425A>G (p.Gly475=) c.1650A>G (p.Gly550=) c.1800A>G (p.Gly600=) c.1410A>G (p.Gly470=) n.230A>G c.999A>G (p.Gly333=) | |
2 | g.206127923T>G | CA430943407 | NDUFS1 | c.1758A>C (p.Gly586=) c.1587A>C (p.Gly529=) c.1425A>C (p.Gly475=) c.1650A>C (p.Gly550=) c.1800A>C (p.Gly600=) c.1410A>C (p.Gly470=) n.230A>C c.999A>C (p.Gly333=) | |
2 | g.206127924C>A | CA350043610 | NDUFS1 | c.1757G>T (p.Gly586Val) c.1586G>T (p.Gly529Val) c.1424G>T (p.Gly475Val) c.1649G>T (p.Gly550Val) c.1799G>T (p.Gly600Val) c.1409G>T (p.Gly470Val) n.229G>T c.998G>T (p.Gly333Val) | |
2 | g.206127924C>G | CA350043613 | NDUFS1 | c.1757G>C (p.Gly586Ala) c.1586G>C (p.Gly529Ala) c.1424G>C (p.Gly475Ala) c.1649G>C (p.Gly550Ala) c.1799G>C (p.Gly600Ala) c.1409G>C (p.Gly470Ala) n.229G>C c.998G>C (p.Gly333Ala) | |
2 | g.206127924C>T | CA350043617 | NDUFS1 | c.1757G>A (p.Gly586Glu) c.1586G>A (p.Gly529Glu) c.1424G>A (p.Gly475Glu) c.1649G>A (p.Gly550Glu) c.1799G>A (p.Gly600Glu) c.1409G>A (p.Gly470Glu) n.229G>A c.998G>A (p.Gly333Glu) | |
2 | g.206127925C>A | CA350043627 | NDUFS1 | c.1756G>T (p.Gly586Ter) c.1585G>T (p.Gly529Ter) c.1423G>T (p.Gly475Ter) c.1648G>T (p.Gly550Ter) c.1798G>T (p.Gly600Ter) c.1408G>T (p.Gly470Ter) n.228G>T c.997G>T (p.Gly333Ter) | |
2 | g.206127925C>G | CA350043632 | NDUFS1 | c.1756G>C (p.Gly586Arg) c.1585G>C (p.Gly529Arg) c.1423G>C (p.Gly475Arg) c.1648G>C (p.Gly550Arg) c.1798G>C (p.Gly600Arg) c.1408G>C (p.Gly470Arg) n.228G>C c.997G>C (p.Gly333Arg) | |
2 | g.206127925C>T | CA350043624 | NDUFS1 | c.1756G>A (p.Gly586Arg) c.1585G>A (p.Gly529Arg) c.1423G>A (p.Gly475Arg) c.1648G>A (p.Gly550Arg) c.1798G>A (p.Gly600Arg) c.1408G>A (p.Gly470Arg) n.228G>A c.997G>A (p.Gly333Arg) | |
2 | g.206127926T>A | CA430943428 | NDUFS1 | c.1755A>T (p.Pro585=) c.1584A>T (p.Pro528=) c.1422A>T (p.Pro474=) c.1647A>T (p.Pro549=) c.1797A>T (p.Pro599=) c.1407A>T (p.Pro469=) n.227A>T c.996A>T (p.Pro332=) | |
2 | g.206127926T>C | CA430943427 | NDUFS1 | c.1755A>G (p.Pro585=) c.1584A>G (p.Pro528=) c.1422A>G (p.Pro474=) c.1647A>G (p.Pro549=) c.1797A>G (p.Pro599=) c.1407A>G (p.Pro469=) n.227A>G c.996A>G (p.Pro332=) | |
2 | g.206127926T>G | CA430943425 | NDUFS1 | c.1755A>C (p.Pro585=) c.1584A>C (p.Pro528=) c.1422A>C (p.Pro474=) c.1647A>C (p.Pro549=) c.1797A>C (p.Pro599=) c.1407A>C (p.Pro469=) n.227A>C c.996A>C (p.Pro332=) | |
2 | g.206127927G>A | CA350043637 | NDUFS1 | c.1754C>T (p.Pro585Leu) c.1583C>T (p.Pro528Leu) c.1421C>T (p.Pro474Leu) c.1646C>T (p.Pro549Leu) c.1796C>T (p.Pro599Leu) c.1406C>T (p.Pro469Leu) n.226C>T c.995C>T (p.Pro332Leu) | |
2 | g.206127927G>C | CA350043635 | NDUFS1 | c.1754C>G (p.Pro585Arg) c.1583C>G (p.Pro528Arg) c.1421C>G (p.Pro474Arg) c.1646C>G (p.Pro549Arg) c.1796C>G (p.Pro599Arg) c.1406C>G (p.Pro469Arg) n.226C>G c.995C>G (p.Pro332Arg) | |
2 | g.206127927G>T | CA350043643 | NDUFS1 | c.1754C>A (p.Pro585Gln) c.1583C>A (p.Pro528Gln) c.1421C>A (p.Pro474Gln) c.1646C>A (p.Pro549Gln) c.1796C>A (p.Pro599Gln) c.1406C>A (p.Pro469Gln) n.226C>A c.995C>A (p.Pro332Gln) | |
2 | g.206127928G>A | CA350043645 | NDUFS1 | c.1753C>T (p.Pro585Ser) c.1582C>T (p.Pro528Ser) c.1420C>T (p.Pro474Ser) c.1645C>T (p.Pro549Ser) c.1795C>T (p.Pro599Ser) c.1405C>T (p.Pro469Ser) n.225C>T c.994C>T (p.Pro332Ser) | |
2 | g.206127928G>C | CA350043647 | NDUFS1 | c.1753C>G (p.Pro585Ala) c.1582C>G (p.Pro528Ala) c.1420C>G (p.Pro474Ala) c.1645C>G (p.Pro549Ala) c.1795C>G (p.Pro599Ala) c.1405C>G (p.Pro469Ala) n.225C>G c.994C>G (p.Pro332Ala) | |
2 | g.206127928G>T | CA350043646 | NDUFS1 | c.1753C>A (p.Pro585Thr) c.1582C>A (p.Pro528Thr) c.1420C>A (p.Pro474Thr) c.1645C>A (p.Pro549Thr) c.1795C>A (p.Pro599Thr) c.1405C>A (p.Pro469Thr) n.225C>A c.994C>A (p.Pro332Thr) | |
2 | g.206127929G>A | CA2070355 | NDUFS1 | c.1752C>T (p.Leu584=) c.1581C>T (p.Leu527=) c.1419C>T (p.Leu473=) c.1644C>T (p.Leu548=) c.1794C>T (p.Leu598=) c.1404C>T (p.Leu468=) n.224C>T c.993C>T (p.Leu331=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206127929G>C | CA430943436 | NDUFS1 | c.1752C>G (p.Leu584=) c.1581C>G (p.Leu527=) c.1419C>G (p.Leu473=) c.1644C>G (p.Leu548=) c.1794C>G (p.Leu598=) c.1404C>G (p.Leu468=) n.224C>G c.993C>G (p.Leu331=) | gnomAD v4 |
2 | g.206127929G= | CA2496479132 | NDUFS1 | c.1752C= (p.Leu584=) c.1581C= (p.Leu527=) c.1419C= (p.Leu473=) c.1644C= (p.Leu548=) c.1794C= (p.Leu598=) c.1404C= (p.Leu468=) n.224C= c.993C= (p.Leu331=) | |
2 | g.206127929G>T | CA430943433 | NDUFS1 | c.1752C>A (p.Leu584=) c.1581C>A (p.Leu527=) c.1419C>A (p.Leu473=) c.1644C>A (p.Leu548=) c.1794C>A (p.Leu598=) c.1404C>A (p.Leu468=) n.224C>A c.993C>A (p.Leu331=) | |
2 | g.206127930A>C | CA350043651 | NDUFS1 | c.1751T>G (p.Leu584Arg) c.1580T>G (p.Leu527Arg) c.1418T>G (p.Leu473Arg) c.1643T>G (p.Leu548Arg) c.1793T>G (p.Leu598Arg) c.1403T>G (p.Leu468Arg) n.223T>G c.992T>G (p.Leu331Arg) | |
2 | g.206127930A>G | CA350043650 | NDUFS1 | c.1751T>C (p.Leu584Pro) c.1580T>C (p.Leu527Pro) c.1418T>C (p.Leu473Pro) c.1643T>C (p.Leu548Pro) c.1793T>C (p.Leu598Pro) c.1403T>C (p.Leu468Pro) n.223T>C c.992T>C (p.Leu331Pro) | |
2 | g.206127930A>T | CA350043652 | NDUFS1 | c.1751T>A (p.Leu584His) c.1580T>A (p.Leu527His) c.1418T>A (p.Leu473His) c.1643T>A (p.Leu548His) c.1793T>A (p.Leu598His) c.1403T>A (p.Leu468His) n.223T>A c.992T>A (p.Leu331His) | |
2 | g.206127931G>A | CA350043658 | NDUFS1 | c.1750C>T (p.Leu584Phe) c.1579C>T (p.Leu527Phe) c.1417C>T (p.Leu473Phe) c.1642C>T (p.Leu548Phe) c.1792C>T (p.Leu598Phe) c.1402C>T (p.Leu468Phe) n.222C>T c.991C>T (p.Leu331Phe) | |
2 | g.206127931G>C | CA350043666 | NDUFS1 | c.1750C>G (p.Leu584Val) c.1579C>G (p.Leu527Val) c.1417C>G (p.Leu473Val) c.1642C>G (p.Leu548Val) c.1792C>G (p.Leu598Val) c.1402C>G (p.Leu468Val) n.222C>G c.991C>G (p.Leu331Val) | |
2 | g.206127931G>T | CA350043661 | NDUFS1 | c.1750C>A (p.Leu584Ile) c.1579C>A (p.Leu527Ile) c.1417C>A (p.Leu473Ile) c.1642C>A (p.Leu548Ile) c.1792C>A (p.Leu598Ile) c.1402C>A (p.Leu468Ile) n.222C>A c.991C>A (p.Leu331Ile) | |
2 | g.206127932A>C | CA350043669 | NDUFS1 | c.1749T>G (p.Ile583Met) c.1578T>G (p.Ile526Met) c.1416T>G (p.Ile472Met) c.1641T>G (p.Ile547Met) c.1791T>G (p.Ile597Met) c.1401T>G (p.Ile467Met) n.221T>G c.990T>G (p.Ile330Met) | |
2 | g.206127932A>G | CA430943446 | NDUFS1 | c.1749T>C (p.Ile583=) c.1578T>C (p.Ile526=) c.1416T>C (p.Ile472=) c.1641T>C (p.Ile547=) c.1791T>C (p.Ile597=) c.1401T>C (p.Ile467=) n.221T>C c.990T>C (p.Ile330=) | gnomAD v4 |
2 | g.206127932A>T | CA430943448 | NDUFS1 | c.1749T>A (p.Ile583=) c.1578T>A (p.Ile526=) c.1416T>A (p.Ile472=) c.1641T>A (p.Ile547=) c.1791T>A (p.Ile597=) c.1401T>A (p.Ile467=) n.221T>A c.990T>A (p.Ile330=) | |
2 | g.206127933A= | CA2496479133 | NDUFS1 | c.1748T= (p.Ile583=) c.1577T= (p.Ile526=) c.1415T= (p.Ile472=) c.1640T= (p.Ile547=) c.1790T= (p.Ile597=) c.1400T= (p.Ile467=) n.220T= c.989T= (p.Ile330=) | |
2 | g.206127933A>C | CA350043683 | NDUFS1 | c.1748T>G (p.Ile583Ser) c.1577T>G (p.Ile526Ser) c.1415T>G (p.Ile472Ser) c.1640T>G (p.Ile547Ser) c.1790T>G (p.Ile597Ser) c.1400T>G (p.Ile467Ser) n.220T>G c.989T>G (p.Ile330Ser) | |
2 | g.206127933A>G | CA2070356 | NDUFS1 | c.1748T>C (p.Ile583Thr) c.1577T>C (p.Ile526Thr) c.1415T>C (p.Ile472Thr) c.1640T>C (p.Ile547Thr) c.1790T>C (p.Ile597Thr) c.1400T>C (p.Ile467Thr) n.220T>C c.989T>C (p.Ile330Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.206127933A>T | CA350043687 | NDUFS1 | c.1748T>A (p.Ile583Asn) c.1577T>A (p.Ile526Asn) c.1415T>A (p.Ile472Asn) c.1640T>A (p.Ile547Asn) c.1790T>A (p.Ile597Asn) c.1400T>A (p.Ile467Asn) n.220T>A c.989T>A (p.Ile330Asn) | |
2 | g.206127934T>A | CA350043690 | NDUFS1 | c.1747A>T (p.Ile583Phe) c.1576A>T (p.Ile526Phe) c.1414A>T (p.Ile472Phe) c.1639A>T (p.Ile547Phe) c.1789A>T (p.Ile597Phe) c.1399A>T (p.Ile467Phe) n.219A>T c.988A>T (p.Ile330Phe) | |
2 | g.206127934T>C | CA350043692 | NDUFS1 | c.1747A>G (p.Ile583Val) c.1576A>G (p.Ile526Val) c.1414A>G (p.Ile472Val) c.1639A>G (p.Ile547Val) c.1789A>G (p.Ile597Val) c.1399A>G (p.Ile467Val) n.219A>G c.988A>G (p.Ile330Val) | |
2 | g.206127934T>G | CA350043695 | NDUFS1 | c.1747A>C (p.Ile583Leu) c.1576A>C (p.Ile526Leu) c.1414A>C (p.Ile472Leu) c.1639A>C (p.Ile547Leu) c.1789A>C (p.Ile597Leu) c.1399A>C (p.Ile467Leu) n.219A>C c.988A>C (p.Ile330Leu) | |
2 | g.206127935A>C | CA430943458 | NDUFS1 | c.1746T>G (p.Val582=) c.1575T>G (p.Val525=) c.1413T>G (p.Val471=) c.1638T>G (p.Val546=) c.1788T>G (p.Val596=) c.1398T>G (p.Val466=) n.218T>G c.987T>G (p.Val329=) | |
2 | g.206127935A>G | CA430943461 | NDUFS1 | c.1746T>C (p.Val582=) c.1575T>C (p.Val525=) c.1413T>C (p.Val471=) c.1638T>C (p.Val546=) c.1788T>C (p.Val596=) c.1398T>C (p.Val466=) n.218T>C c.987T>C (p.Val329=) | |
2 | g.206127935A>T | CA430943462 | NDUFS1 | c.1746T>A (p.Val582=) c.1575T>A (p.Val525=) c.1413T>A (p.Val471=) c.1638T>A (p.Val546=) c.1788T>A (p.Val596=) c.1398T>A (p.Val466=) n.218T>A c.987T>A (p.Val329=) | |
2 | g.206127936A>C | CA350043699 | NDUFS1 | c.1745T>G (p.Val582Gly) c.1574T>G (p.Val525Gly) c.1412T>G (p.Val471Gly) c.1637T>G (p.Val546Gly) c.1787T>G (p.Val596Gly) c.1397T>G (p.Val466Gly) n.217T>G c.986T>G (p.Val329Gly) | |
2 | g.206127936A>G | CA350043702 | NDUFS1 | c.1745T>C (p.Val582Ala) c.1574T>C (p.Val525Ala) c.1412T>C (p.Val471Ala) c.1637T>C (p.Val546Ala) c.1787T>C (p.Val596Ala) c.1397T>C (p.Val466Ala) n.217T>C c.986T>C (p.Val329Ala) | |
2 | g.206127936A>T | CA350043703 | NDUFS1 | c.1745T>A (p.Val582Asp) c.1574T>A (p.Val525Asp) c.1412T>A (p.Val471Asp) c.1637T>A (p.Val546Asp) c.1787T>A (p.Val596Asp) c.1397T>A (p.Val466Asp) n.217T>A c.986T>A (p.Val329Asp) |