Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.206127812_206127814del	CA2662800740	NDUFS1	c.1868_1870del (p.Ile623del) c.1697_1699del (p.Ile566del) c.1535_1537del (p.Ile512del) c.1760_1762del (p.Ile587del) c.1910_1912del (p.Ile637del) c.1520_1522del (p.Ile507del) n.340_342del c.1109_1111del (p.Ile370del)	gnomAD v4
2	g.206127813A=	CA2496479082	NDUFS1	c.1868T= (p.Ile623=) c.1697T= (p.Ile566=) c.1535T= (p.Ile512=) c.1760T= (p.Ile587=) c.1910T= (p.Ile637=) c.1520T= (p.Ile507=) n.340T= c.1109T= (p.Ile370=)
2	g.206127813A>C	CA2070339	NDUFS1	c.1868T>G (p.Ile623Arg) c.1697T>G (p.Ile566Arg) c.1535T>G (p.Ile512Arg) c.1760T>G (p.Ile587Arg) c.1910T>G (p.Ile637Arg) c.1520T>G (p.Ile507Arg) n.340T>G c.1109T>G (p.Ile370Arg)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.206127813A>G	CA350042844	NDUFS1	c.1868T>C (p.Ile623Thr) c.1697T>C (p.Ile566Thr) c.1535T>C (p.Ile512Thr) c.1760T>C (p.Ile587Thr) c.1910T>C (p.Ile637Thr) c.1520T>C (p.Ile507Thr) n.340T>C c.1109T>C (p.Ile370Thr)	gnomAD v4
2	g.206127813A>T	CA322081	NDUFS1	c.1868T>A (p.Ile623Lys) c.1697T>A (p.Ile566Lys) c.1535T>A (p.Ile512Lys) c.1760T>A (p.Ile587Lys) c.1910T>A (p.Ile637Lys) c.1520T>A (p.Ile507Lys) n.340T>A c.1109T>A (p.Ile370Lys)	dbSNP gnomAD v3 gnomAD v4
2	g.206127814T>A	CA350042848	NDUFS1	c.1867A>T (p.Ile623Leu) c.1696A>T (p.Ile566Leu) c.1534A>T (p.Ile512Leu) c.1759A>T (p.Ile587Leu) c.1909A>T (p.Ile637Leu) c.1519A>T (p.Ile507Leu) n.339A>T c.1108A>T (p.Ile370Leu)
2	g.206127814T>C	CA350042850	NDUFS1	c.1867A>G (p.Ile623Val) c.1696A>G (p.Ile566Val) c.1534A>G (p.Ile512Val) c.1759A>G (p.Ile587Val) c.1909A>G (p.Ile637Val) c.1519A>G (p.Ile507Val) n.339A>G c.1108A>G (p.Ile370Val)	dbSNP gnomAD v4
2	g.206127814T>G	CA350042852	NDUFS1	c.1867A>C (p.Ile623Leu) c.1696A>C (p.Ile566Leu) c.1534A>C (p.Ile512Leu) c.1759A>C (p.Ile587Leu) c.1909A>C (p.Ile637Leu) c.1519A>C (p.Ile507Leu) n.339A>C c.1108A>C (p.Ile370Leu)	gnomAD v4
2	g.206127814T=	CA2496479083	NDUFS1	c.1867A= (p.Ile623=) c.1696A= (p.Ile566=) c.1534A= (p.Ile512=) c.1759A= (p.Ile587=) c.1909A= (p.Ile637=) c.1519A= (p.Ile507=) n.339A= c.1108A= (p.Ile370=)
2	g.206127814dup	CA2662800741	NDUFS1	c.1867dup (p.Ile623AsnfsTer6) c.1696dup (p.Ile566AsnfsTer6) c.1534dup (p.Ile512AsnfsTer6) c.1759dup (p.Ile587AsnfsTer6) c.1909dup (p.Ile637AsnfsTer6) c.1519dup (p.Ile507AsnfsTer6) n.339dup c.1108dup (p.Ile370AsnfsTer6)	gnomAD v4
2	g.206127815A=	CA2496479084	NDUFS1	c.1866T= (p.Ile622=) c.1695T= (p.Ile565=) c.1533T= (p.Ile511=) c.1758T= (p.Ile586=) c.1908T= (p.Ile636=) c.1518T= (p.Ile506=) n.338T= c.1107T= (p.Ile369=)
2	g.206127815A>C	CA63648633	NDUFS1	c.1866T>G (p.Ile622Met) c.1695T>G (p.Ile565Met) c.1533T>G (p.Ile511Met) c.1758T>G (p.Ile586Met) c.1908T>G (p.Ile636Met) c.1518T>G (p.Ile506Met) n.338T>G c.1107T>G (p.Ile369Met)	dbSNP
2	g.206127815A>G	CA430942903	NDUFS1	c.1866T>C (p.Ile622=) c.1695T>C (p.Ile565=) c.1533T>C (p.Ile511=) c.1758T>C (p.Ile586=) c.1908T>C (p.Ile636=) c.1518T>C (p.Ile506=) n.338T>C c.1107T>C (p.Ile369=)	gnomAD v4
2	g.206127815A>T	CA430942904	NDUFS1	c.1866T>A (p.Ile622=) c.1695T>A (p.Ile565=) c.1533T>A (p.Ile511=) c.1758T>A (p.Ile586=) c.1908T>A (p.Ile636=) c.1518T>A (p.Ile506=) n.338T>A c.1107T>A (p.Ile369=)
2	g.206127816A>C	CA350042855	NDUFS1	c.1865T>G (p.Ile622Ser) c.1694T>G (p.Ile565Ser) c.1532T>G (p.Ile511Ser) c.1757T>G (p.Ile586Ser) c.1907T>G (p.Ile636Ser) c.1517T>G (p.Ile506Ser) n.337T>G c.1106T>G (p.Ile369Ser)
2	g.206127816A>G	CA350042857	NDUFS1	c.1865T>C (p.Ile622Thr) c.1694T>C (p.Ile565Thr) c.1532T>C (p.Ile511Thr) c.1757T>C (p.Ile586Thr) c.1907T>C (p.Ile636Thr) c.1517T>C (p.Ile506Thr) n.337T>C c.1106T>C (p.Ile369Thr)
2	g.206127816A>T	CA350042856	NDUFS1	c.1865T>A (p.Ile622Asn) c.1694T>A (p.Ile565Asn) c.1532T>A (p.Ile511Asn) c.1757T>A (p.Ile586Asn) c.1907T>A (p.Ile636Asn) c.1517T>A (p.Ile506Asn) n.337T>A c.1106T>A (p.Ile369Asn)
2	g.206127817T>A	CA350042859	NDUFS1	c.1864A>T (p.Ile622Phe) c.1693A>T (p.Ile565Phe) c.1531A>T (p.Ile511Phe) c.1756A>T (p.Ile586Phe) c.1906A>T (p.Ile636Phe) c.1516A>T (p.Ile506Phe) n.336A>T c.1105A>T (p.Ile369Phe)
2	g.206127817T>C	CA350042861	NDUFS1	c.1864A>G (p.Ile622Val) c.1693A>G (p.Ile565Val) c.1531A>G (p.Ile511Val) c.1756A>G (p.Ile586Val) c.1906A>G (p.Ile636Val) c.1516A>G (p.Ile506Val) n.336A>G c.1105A>G (p.Ile369Val)
2	g.206127817T>G	CA350042860	NDUFS1	c.1864A>C (p.Ile622Leu) c.1693A>C (p.Ile565Leu) c.1531A>C (p.Ile511Leu) c.1756A>C (p.Ile586Leu) c.1906A>C (p.Ile636Leu) c.1516A>C (p.Ile506Leu) n.336A>C c.1105A>C (p.Ile369Leu)
2	g.206127818T>A	CA350042863	NDUFS1	c.1863A>T (p.Lys621Asn) c.1692A>T (p.Lys564Asn) c.1530A>T (p.Lys510Asn) c.1755A>T (p.Lys585Asn) c.1905A>T (p.Lys635Asn) c.1515A>T (p.Lys505Asn) n.335A>T c.1104A>T (p.Lys368Asn)
2	g.206127818T>C	CA430942913	NDUFS1	c.1863A>G (p.Lys621=) c.1692A>G (p.Lys564=) c.1530A>G (p.Lys510=) c.1755A>G (p.Lys585=) c.1905A>G (p.Lys635=) c.1515A>G (p.Lys505=) n.335A>G c.1104A>G (p.Lys368=)
2	g.206127818T>G	CA350042865	NDUFS1	c.1863A>C (p.Lys621Asn) c.1692A>C (p.Lys564Asn) c.1530A>C (p.Lys510Asn) c.1755A>C (p.Lys585Asn) c.1905A>C (p.Lys635Asn) c.1515A>C (p.Lys505Asn) n.335A>C c.1104A>C (p.Lys368Asn)
2	g.206127819T>A	CA350042868	NDUFS1	c.1862A>T (p.Lys621Ile) c.1691A>T (p.Lys564Ile) c.1529A>T (p.Lys510Ile) c.1754A>T (p.Lys585Ile) c.1904A>T (p.Lys635Ile) c.1514A>T (p.Lys505Ile) n.334A>T c.1103A>T (p.Lys368Ile)
2	g.206127819T>C	CA350042874	NDUFS1	c.1862A>G (p.Lys621Arg) c.1691A>G (p.Lys564Arg) c.1529A>G (p.Lys510Arg) c.1754A>G (p.Lys585Arg) c.1904A>G (p.Lys635Arg) c.1514A>G (p.Lys505Arg) n.334A>G c.1103A>G (p.Lys368Arg)
2	g.206127819T>G	CA350042871	NDUFS1	c.1862A>C (p.Lys621Thr) c.1691A>C (p.Lys564Thr) c.1529A>C (p.Lys510Thr) c.1754A>C (p.Lys585Thr) c.1904A>C (p.Lys635Thr) c.1514A>C (p.Lys505Thr) n.334A>C c.1103A>C (p.Lys368Thr)
2	g.206127820T>A	CA350042876	NDUFS1	c.1861A>T (p.Lys621Ter) c.1690A>T (p.Lys564Ter) c.1528A>T (p.Lys510Ter) c.1753A>T (p.Lys585Ter) c.1903A>T (p.Lys635Ter) c.1513A>T (p.Lys505Ter) n.333A>T c.1102A>T (p.Lys368Ter)
2	g.206127820T>C	CA350042877	NDUFS1	c.1861A>G (p.Lys621Glu) c.1690A>G (p.Lys564Glu) c.1528A>G (p.Lys510Glu) c.1753A>G (p.Lys585Glu) c.1903A>G (p.Lys635Glu) c.1513A>G (p.Lys505Glu) n.333A>G c.1102A>G (p.Lys368Glu)	gnomAD v4
2	g.206127820T>G	CA350042879	NDUFS1	c.1861A>C (p.Lys621Gln) c.1690A>C (p.Lys564Gln) c.1528A>C (p.Lys510Gln) c.1753A>C (p.Lys585Gln) c.1903A>C (p.Lys635Gln) c.1513A>C (p.Lys505Gln) n.333A>C c.1102A>C (p.Lys368Gln)	gnomAD v4
2	g.206127821C>A	CA350042880	NDUFS1	c.1860G>T (p.Trp620Cys) c.1689G>T (p.Trp563Cys) c.1527G>T (p.Trp509Cys) c.1752G>T (p.Trp584Cys) c.1902G>T (p.Trp634Cys) c.1512G>T (p.Trp504Cys) n.332G>T c.1101G>T (p.Trp367Cys)
2	g.206127821C=	CA2496479085	NDUFS1	c.1860G= (p.Trp620=) c.1689G= (p.Trp563=) c.1527G= (p.Trp509=) c.1752G= (p.Trp584=) c.1902G= (p.Trp634=) c.1512G= (p.Trp504=) n.332G= c.1101G= (p.Trp367=)
2	g.206127821C>G	CA350042882	NDUFS1	c.1860G>C (p.Trp620Cys) c.1689G>C (p.Trp563Cys) c.1527G>C (p.Trp509Cys) c.1752G>C (p.Trp584Cys) c.1902G>C (p.Trp634Cys) c.1512G>C (p.Trp504Cys) n.332G>C c.1101G>C (p.Trp367Cys)
2	g.206127821C>T	CA350042888	NDUFS1	c.1860G>A (p.Trp620Ter) c.1689G>A (p.Trp563Ter) c.1527G>A (p.Trp509Ter) c.1752G>A (p.Trp584Ter) c.1902G>A (p.Trp634Ter) c.1512G>A (p.Trp504Ter) n.332G>A c.1101G>A (p.Trp367Ter)	dbSNP
2	g.206127822C>A	CA350042891	NDUFS1	c.1859G>T (p.Trp620Leu) c.1688G>T (p.Trp563Leu) c.1526G>T (p.Trp509Leu) c.1751G>T (p.Trp584Leu) c.1901G>T (p.Trp634Leu) c.1511G>T (p.Trp504Leu) n.331G>T c.1100G>T (p.Trp367Leu)
2	g.206127822C>G	CA350042893	NDUFS1	c.1859G>C (p.Trp620Ser) c.1688G>C (p.Trp563Ser) c.1526G>C (p.Trp509Ser) c.1751G>C (p.Trp584Ser) c.1901G>C (p.Trp634Ser) c.1511G>C (p.Trp504Ser) n.331G>C c.1100G>C (p.Trp367Ser)
2	g.206127822C>T	CA350042895	NDUFS1	c.1859G>A (p.Trp620Ter) c.1688G>A (p.Trp563Ter) c.1526G>A (p.Trp509Ter) c.1751G>A (p.Trp584Ter) c.1901G>A (p.Trp634Ter) c.1511G>A (p.Trp504Ter) n.331G>A c.1100G>A (p.Trp367Ter)
2	g.206127823A>C	CA350042897	NDUFS1	c.1858T>G (p.Trp620Gly) c.1687T>G (p.Trp563Gly) c.1525T>G (p.Trp509Gly) c.1750T>G (p.Trp584Gly) c.1900T>G (p.Trp634Gly) c.1510T>G (p.Trp504Gly) n.330T>G c.1099T>G (p.Trp367Gly)
2	g.206127823A>G	CA350042899	NDUFS1	c.1858T>C (p.Trp620Arg) c.1687T>C (p.Trp563Arg) c.1525T>C (p.Trp509Arg) c.1750T>C (p.Trp584Arg) c.1900T>C (p.Trp634Arg) c.1510T>C (p.Trp504Arg) n.330T>C c.1099T>C (p.Trp367Arg)	gnomAD v4
2	g.206127823A>T	CA350042905	NDUFS1	c.1858T>A (p.Trp620Arg) c.1687T>A (p.Trp563Arg) c.1525T>A (p.Trp509Arg) c.1750T>A (p.Trp584Arg) c.1900T>A (p.Trp634Arg) c.1510T>A (p.Trp504Arg) n.330T>A c.1099T>A (p.Trp367Arg)
2	g.206127824G>A	CA430942925	NDUFS1	c.1857C>T (p.Asp619=) c.1686C>T (p.Asp562=) c.1524C>T (p.Asp508=) c.1749C>T (p.Asp583=) c.1899C>T (p.Asp633=) c.1509C>T (p.Asp503=) n.329C>T c.1098C>T (p.Asp366=)
2	g.206127824G>C	CA350042909	NDUFS1	c.1857C>G (p.Asp619Glu) c.1686C>G (p.Asp562Glu) c.1524C>G (p.Asp508Glu) c.1749C>G (p.Asp583Glu) c.1899C>G (p.Asp633Glu) c.1509C>G (p.Asp503Glu) n.329C>G c.1098C>G (p.Asp366Glu)	dbSNP gnomAD v3 gnomAD v4
2	g.206127824G=	CA2496479086	NDUFS1	c.1857C= (p.Asp619=) c.1686C= (p.Asp562=) c.1524C= (p.Asp508=) c.1749C= (p.Asp583=) c.1899C= (p.Asp633=) c.1509C= (p.Asp503=) n.329C= c.1098C= (p.Asp366=)
2	g.206127824G>T	CA350042907	NDUFS1	c.1857C>A (p.Asp619Glu) c.1686C>A (p.Asp562Glu) c.1524C>A (p.Asp508Glu) c.1749C>A (p.Asp583Glu) c.1899C>A (p.Asp633Glu) c.1509C>A (p.Asp503Glu) n.329C>A c.1098C>A (p.Asp366Glu)
2	g.206127825T>A	CA350042914	NDUFS1	c.1856A>T (p.Asp619Val) c.1685A>T (p.Asp562Val) c.1523A>T (p.Asp508Val) c.1748A>T (p.Asp583Val) c.1898A>T (p.Asp633Val) c.1508A>T (p.Asp503Val) n.328A>T c.1097A>T (p.Asp366Val)
2	g.206127825T>C	CA350042924	NDUFS1	c.1856A>G (p.Asp619Gly) c.1685A>G (p.Asp562Gly) c.1523A>G (p.Asp508Gly) c.1748A>G (p.Asp583Gly) c.1898A>G (p.Asp633Gly) c.1508A>G (p.Asp503Gly) n.328A>G c.1097A>G (p.Asp366Gly)
2	g.206127825T>G	CA350042930	NDUFS1	c.1856A>C (p.Asp619Ala) c.1685A>C (p.Asp562Ala) c.1523A>C (p.Asp508Ala) c.1748A>C (p.Asp583Ala) c.1898A>C (p.Asp633Ala) c.1508A>C (p.Asp503Ala) n.328A>C c.1097A>C (p.Asp366Ala)
2	g.206127826C>A	CA350042937	NDUFS1	c.1855G>T (p.Asp619Tyr) c.1684G>T (p.Asp562Tyr) c.1522G>T (p.Asp508Tyr) c.1747G>T (p.Asp583Tyr) c.1897G>T (p.Asp633Tyr) c.1507G>T (p.Asp503Tyr) n.327G>T c.1096G>T (p.Asp366Tyr)
2	g.206127826C=	CA2496479087	NDUFS1	c.1855G= (p.Asp619=) c.1684G= (p.Asp562=) c.1522G= (p.Asp508=) c.1747G= (p.Asp583=) c.1897G= (p.Asp633=) c.1507G= (p.Asp503=) n.327G= c.1096G= (p.Asp366=)
2	g.206127826C>G	CA350042939	NDUFS1	c.1855G>C (p.Asp619His) c.1684G>C (p.Asp562His) c.1522G>C (p.Asp508His) c.1747G>C (p.Asp583His) c.1897G>C (p.Asp633His) c.1507G>C (p.Asp503His) n.327G>C c.1096G>C (p.Asp366His)
2	g.206127826C>T	CA143869	NDUFS1	c.1855G>A (p.Asp619Asn) c.1684G>A (p.Asp562Asn) c.1522G>A (p.Asp508Asn) c.1747G>A (p.Asp583Asn) c.1897G>A (p.Asp633Asn) c.1507G>A (p.Asp503Asn) n.327G>A c.1096G>A (p.Asp366Asn)	ClinVar dbSNP gnomAD v4
2	g.206127827T>A	CA350042945	NDUFS1	c.1854A>T (p.Glu618Asp) c.1683A>T (p.Glu561Asp) c.1521A>T (p.Glu507Asp) c.1746A>T (p.Glu582Asp) c.1896A>T (p.Glu632Asp) c.1506A>T (p.Glu502Asp) n.326A>T c.1095A>T (p.Glu365Asp)
2	g.206127827T>C	CA430942935	NDUFS1	c.1854A>G (p.Glu618=) c.1683A>G (p.Glu561=) c.1521A>G (p.Glu507=) c.1746A>G (p.Glu582=) c.1896A>G (p.Glu632=) c.1506A>G (p.Glu502=) n.326A>G c.1095A>G (p.Glu365=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.206127827T>G	CA350042949	NDUFS1	c.1854A>C (p.Glu618Asp) c.1683A>C (p.Glu561Asp) c.1521A>C (p.Glu507Asp) c.1746A>C (p.Glu582Asp) c.1896A>C (p.Glu632Asp) c.1506A>C (p.Glu502Asp) n.326A>C c.1095A>C (p.Glu365Asp)
2	g.206127827T=	CA2496479088	NDUFS1	c.1854A= (p.Glu618=) c.1683A= (p.Glu561=) c.1521A= (p.Glu507=) c.1746A= (p.Glu582=) c.1896A= (p.Glu632=) c.1506A= (p.Glu502=) n.326A= c.1095A= (p.Glu365=)
2	g.206127828T>A	CA350042953	NDUFS1	c.1853A>T (p.Glu618Val) c.1682A>T (p.Glu561Val) c.1520A>T (p.Glu507Val) c.1745A>T (p.Glu582Val) c.1895A>T (p.Glu632Val) c.1505A>T (p.Glu502Val) n.325A>T c.1094A>T (p.Glu365Val)
2	g.206127828T>C	CA2070340	NDUFS1	c.1853A>G (p.Glu618Gly) c.1682A>G (p.Glu561Gly) c.1520A>G (p.Glu507Gly) c.1745A>G (p.Glu582Gly) c.1895A>G (p.Glu632Gly) c.1505A>G (p.Glu502Gly) n.325A>G c.1094A>G (p.Glu365Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.206127828T>G	CA350042956	NDUFS1	c.1853A>C (p.Glu618Ala) c.1682A>C (p.Glu561Ala) c.1520A>C (p.Glu507Ala) c.1745A>C (p.Glu582Ala) c.1895A>C (p.Glu632Ala) c.1505A>C (p.Glu502Ala) n.325A>C c.1094A>C (p.Glu365Ala)
2	g.206127828T=	CA2496479089	NDUFS1	c.1853A= (p.Glu618=) c.1682A= (p.Glu561=) c.1520A= (p.Glu507=) c.1745A= (p.Glu582=) c.1895A= (p.Glu632=) c.1505A= (p.Glu502=) n.325A= c.1094A= (p.Glu365=)
2	g.206127829C>A	CA350042967	NDUFS1	c.1852G>T (p.Glu618Ter) c.1681G>T (p.Glu561Ter) c.1519G>T (p.Glu507Ter) c.1744G>T (p.Glu582Ter) c.1894G>T (p.Glu632Ter) c.1504G>T (p.Glu502Ter) n.324G>T c.1093G>T (p.Glu365Ter)	gnomAD v4
2	g.206127829C>G	CA350042964	NDUFS1	c.1852G>C (p.Glu618Gln) c.1681G>C (p.Glu561Gln) c.1519G>C (p.Glu507Gln) c.1744G>C (p.Glu582Gln) c.1894G>C (p.Glu632Gln) c.1504G>C (p.Glu502Gln) n.324G>C c.1093G>C (p.Glu365Gln)
2	g.206127829C>T	CA350042961	NDUFS1	c.1852G>A (p.Glu618Lys) c.1681G>A (p.Glu561Lys) c.1519G>A (p.Glu507Lys) c.1744G>A (p.Glu582Lys) c.1894G>A (p.Glu632Lys) c.1504G>A (p.Glu502Lys) n.324G>A c.1093G>A (p.Glu365Lys)	gnomAD v4
2	g.206127830T>A	CA350042971	NDUFS1	c.1851A>T (p.Arg617Ser) c.1680A>T (p.Arg560Ser) c.1518A>T (p.Arg506Ser) c.1743A>T (p.Arg581Ser) c.1893A>T (p.Arg631Ser) c.1503A>T (p.Arg501Ser) n.323A>T c.1092A>T (p.Arg364Ser)
2	g.206127830T>C	CA430942945	NDUFS1	c.1851A>G (p.Arg617=) c.1680A>G (p.Arg560=) c.1518A>G (p.Arg506=) c.1743A>G (p.Arg581=) c.1893A>G (p.Arg631=) c.1503A>G (p.Arg501=) n.323A>G c.1092A>G (p.Arg364=)
2	g.206127830T>G	CA350042979	NDUFS1	c.1851A>C (p.Arg617Ser) c.1680A>C (p.Arg560Ser) c.1518A>C (p.Arg506Ser) c.1743A>C (p.Arg581Ser) c.1893A>C (p.Arg631Ser) c.1503A>C (p.Arg501Ser) n.323A>C c.1092A>C (p.Arg364Ser)
2	g.206127831C>A	CA350042981	NDUFS1	c.1850G>T (p.Arg617Ile) c.1679G>T (p.Arg560Ile) c.1517G>T (p.Arg506Ile) c.1742G>T (p.Arg581Ile) c.1892G>T (p.Arg631Ile) c.1502G>T (p.Arg501Ile) n.322G>T c.1091G>T (p.Arg364Ile)
2	g.206127831C>G	CA350042983	NDUFS1	c.1850G>C (p.Arg617Thr) c.1679G>C (p.Arg560Thr) c.1517G>C (p.Arg506Thr) c.1742G>C (p.Arg581Thr) c.1892G>C (p.Arg631Thr) c.1502G>C (p.Arg501Thr) n.322G>C c.1091G>C (p.Arg364Thr)
2	g.206127831C>T	CA350042986	NDUFS1	c.1850G>A (p.Arg617Lys) c.1679G>A (p.Arg560Lys) c.1517G>A (p.Arg506Lys) c.1742G>A (p.Arg581Lys) c.1892G>A (p.Arg631Lys) c.1502G>A (p.Arg501Lys) n.322G>A c.1091G>A (p.Arg364Lys)
2	g.206127832T>A	CA350042988	NDUFS1	c.1849A>T (p.Arg617Ter) c.1678A>T (p.Arg560Ter) c.1516A>T (p.Arg506Ter) c.1741A>T (p.Arg581Ter) c.1891A>T (p.Arg631Ter) c.1501A>T (p.Arg501Ter) n.321A>T c.1090A>T (p.Arg364Ter)
2	g.206127832T>C	CA2070341	NDUFS1	c.1849A>G (p.Arg617Gly) c.1678A>G (p.Arg560Gly) c.1516A>G (p.Arg506Gly) c.1741A>G (p.Arg581Gly) c.1891A>G (p.Arg631Gly) c.1501A>G (p.Arg501Gly) n.321A>G c.1090A>G (p.Arg364Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.206127832T>G	CA430942954	NDUFS1	c.1849A>C (p.Arg617=) c.1678A>C (p.Arg560=) c.1516A>C (p.Arg506=) c.1741A>C (p.Arg581=) c.1891A>C (p.Arg631=) c.1501A>C (p.Arg501=) n.321A>C c.1090A>C (p.Arg364=)
2	g.206127832T=	CA2496479090	NDUFS1	c.1849A= (p.Arg617=) c.1678A= (p.Arg560=) c.1516A= (p.Arg506=) c.1741A= (p.Arg581=) c.1891A= (p.Arg631=) c.1501A= (p.Arg501=) n.321A= c.1090A= (p.Arg364=)
2	g.206127833T>A	CA430942961	NDUFS1	c.1848A>T (p.Ala616=) c.1677A>T (p.Ala559=) c.1515A>T (p.Ala505=) c.1740A>T (p.Ala580=) c.1890A>T (p.Ala630=) c.1500A>T (p.Ala500=) n.320A>T c.1089A>T (p.Ala363=)
2	g.206127833T>C	CA430942959	NDUFS1	c.1848A>G (p.Ala616=) c.1677A>G (p.Ala559=) c.1515A>G (p.Ala505=) c.1740A>G (p.Ala580=) c.1890A>G (p.Ala630=) c.1500A>G (p.Ala500=) n.320A>G c.1089A>G (p.Ala363=)
2	g.206127833T>G	CA430942956	NDUFS1	c.1848A>C (p.Ala616=) c.1677A>C (p.Ala559=) c.1515A>C (p.Ala505=) c.1740A>C (p.Ala580=) c.1890A>C (p.Ala630=) c.1500A>C (p.Ala500=) n.320A>C c.1089A>C (p.Ala363=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.206127833T=	CA2496479091	NDUFS1	c.1848A= (p.Ala616=) c.1677A= (p.Ala559=) c.1515A= (p.Ala505=) c.1740A= (p.Ala580=) c.1890A= (p.Ala630=) c.1500A= (p.Ala500=) n.320A= c.1089A= (p.Ala363=)
2	g.206127834G>A	CA350042992	NDUFS1	c.1847C>T (p.Ala616Val) c.1676C>T (p.Ala559Val) c.1514C>T (p.Ala505Val) c.1739C>T (p.Ala580Val) c.1889C>T (p.Ala630Val) c.1499C>T (p.Ala500Val) n.319C>T c.1088C>T (p.Ala363Val)	gnomAD v4
2	g.206127834G>C	CA350042994	NDUFS1	c.1847C>G (p.Ala616Gly) c.1676C>G (p.Ala559Gly) c.1514C>G (p.Ala505Gly) c.1739C>G (p.Ala580Gly) c.1889C>G (p.Ala630Gly) c.1499C>G (p.Ala500Gly) n.319C>G c.1088C>G (p.Ala363Gly)	dbSNP
2	g.206127834G=	CA2496479092	NDUFS1	c.1847C= (p.Ala616=) c.1676C= (p.Ala559=) c.1514C= (p.Ala505=) c.1739C= (p.Ala580=) c.1889C= (p.Ala630=) c.1499C= (p.Ala500=) n.319C= c.1088C= (p.Ala363=)
2	g.206127834G>T	CA350042996	NDUFS1	c.1847C>A (p.Ala616Glu) c.1676C>A (p.Ala559Glu) c.1514C>A (p.Ala505Glu) c.1739C>A (p.Ala580Glu) c.1889C>A (p.Ala630Glu) c.1499C>A (p.Ala500Glu) n.319C>A c.1088C>A (p.Ala363Glu)
2	g.206127835C>A	CA350043004	NDUFS1	c.1846G>T (p.Ala616Ser) c.1675G>T (p.Ala559Ser) c.1513G>T (p.Ala505Ser) c.1738G>T (p.Ala580Ser) c.1888G>T (p.Ala630Ser) c.1498G>T (p.Ala500Ser) n.318G>T c.1087G>T (p.Ala363Ser)	gnomAD v4
2	g.206127835C>G	CA350043006	NDUFS1	c.1846G>C (p.Ala616Pro) c.1675G>C (p.Ala559Pro) c.1513G>C (p.Ala505Pro) c.1738G>C (p.Ala580Pro) c.1888G>C (p.Ala630Pro) c.1498G>C (p.Ala500Pro) n.318G>C c.1087G>C (p.Ala363Pro)
2	g.206127835C>T	CA350043010	NDUFS1	c.1846G>A (p.Ala616Thr) c.1675G>A (p.Ala559Thr) c.1513G>A (p.Ala505Thr) c.1738G>A (p.Ala580Thr) c.1888G>A (p.Ala630Thr) c.1498G>A (p.Ala500Thr) n.318G>A c.1087G>A (p.Ala363Thr)
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=)

Number of alleles fetched