Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.206127854T>ACA430943049NDUFS1c.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=)
2g.206127854T>CCA430943045NDUFS1c.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
2g.206127854T>GCA430943047NDUFS1c.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=)
2g.206127854_206127857dupCA2070343NDUFS1c.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
2g.206127855G>ACA350043132NDUFS1c.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)
2g.206127855G>CCA350043133NDUFS1c.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)
2g.206127855G>TCA350043135NDUFS1c.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
2g.206127856C>ACA350043139NDUFS1c.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)
2g.206127856C=CA2496479100NDUFS1c.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=)
2g.206127856C>GCA350043142NDUFS1c.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)
2g.206127856C>TCA2070344NDUFS1c.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
2g.206127857T>ACA430943063NDUFS1c.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
2g.206127857T>CCA430943065NDUFS1c.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=)
2g.206127857T>GCA430943066NDUFS1c.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
2g.206127858A>CCA350043144NDUFS1c.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)
2g.206127858A>GCA350043145NDUFS1c.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)
2g.206127858A>TCA350043143NDUFS1c.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)
2g.206127859C>ACA350043147NDUFS1c.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)
2g.206127859C>GCA350043150NDUFS1c.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)
2g.206127859C>TCA350043154NDUFS1c.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
2g.206127860C>ACA350043157NDUFS1c.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)
2g.206127860C>GCA350043162NDUFS1c.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)
2g.206127860C>TCA430943078NDUFS1c.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
2g.206127861T>ACA350043166NDUFS1c.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)
2g.206127861T>CCA350043168NDUFS1c.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)
2g.206127861T>GCA350043170NDUFS1c.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)
2g.206127862T>ACA350043174NDUFS1c.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)
2g.206127862T>CCA350043178NDUFS1c.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)
2g.206127862T>GCA350043193NDUFS1c.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)
2g.206127863A>CCA430943088NDUFS1c.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=)
2g.206127863A>GCA430943097NDUFS1c.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
2g.206127863A>TCA430943100NDUFS1c.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=)
2g.206127864G>ACA350043197NDUFS1c.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)
2g.206127864G>CCA350043195NDUFS1c.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
2g.206127864G=CA2496479101NDUFS1c.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=)
2g.206127864G>TCA350043194NDUFS1c.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)
2g.206127865T>ACA350043200NDUFS1c.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)
2g.206127865T>CCA350043202NDUFS1c.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
2g.206127865T>GCA350043205NDUFS1c.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)
2g.206127866C>ACA350043216NDUFS1c.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)
2g.206127866C>GCA350043223NDUFS1c.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)
2g.206127866C>TCA430943118NDUFS1c.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=)
2g.206127867T>ACA2070345NDUFS1c.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
2g.206127867T>CCA350043228NDUFS1c.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
2g.206127867T>GCA350043231NDUFS1c.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
2g.206127867T=CA2496479102NDUFS1c.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=)
2g.206127868G>ACA350043233NDUFS1c.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
2g.206127868G>CCA350043236NDUFS1c.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)
2g.206127868G>TCA350043238NDUFS1c.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)
2g.206127869C>ACA350043239NDUFS1c.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)

Number of alleles fetched