| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 2 | g.206127937C>A | CA350043704 | NDUFS1 | c.1744G>T (p.Val582Phe) c.1573G>T (p.Val525Phe) c.1411G>T (p.Val471Phe) c.1636G>T (p.Val546Phe) c.1786G>T (p.Val596Phe) c.1396G>T (p.Val466Phe) n.216G>T c.985G>T (p.Val329Phe) | |
| 2 | g.206127937C>G | CA350043706 | NDUFS1 | c.1744G>C (p.Val582Leu) c.1573G>C (p.Val525Leu) c.1411G>C (p.Val471Leu) c.1636G>C (p.Val546Leu) c.1786G>C (p.Val596Leu) c.1396G>C (p.Val466Leu) n.216G>C c.985G>C (p.Val329Leu) | |
| 2 | g.206127937C>T | CA350043709 | NDUFS1 | c.1744G>A (p.Val582Ile) c.1573G>A (p.Val525Ile) c.1411G>A (p.Val471Ile) c.1636G>A (p.Val546Ile) c.1786G>A (p.Val596Ile) c.1396G>A (p.Val466Ile) n.216G>A c.985G>A (p.Val329Ile) | |
| 2 | g.206127938A= | CA2496479134 | NDUFS1 | c.1743T= (p.Asp581=) c.1572T= (p.Asp524=) c.1410T= (p.Asp470=) c.1635T= (p.Asp545=) c.1785T= (p.Asp595=) c.1395T= (p.Asp465=) n.215T= c.984T= (p.Asp328=) | |
| 2 | g.206127938A>C | CA350043711 | NDUFS1 | c.1743T>G (p.Asp581Glu) c.1572T>G (p.Asp524Glu) c.1410T>G (p.Asp470Glu) c.1635T>G (p.Asp545Glu) c.1785T>G (p.Asp595Glu) c.1395T>G (p.Asp465Glu) n.215T>G c.984T>G (p.Asp328Glu) | |
| 2 | g.206127938A>G | CA430943475 | NDUFS1 | c.1743T>C (p.Asp581=) c.1572T>C (p.Asp524=) c.1410T>C (p.Asp470=) c.1635T>C (p.Asp545=) c.1785T>C (p.Asp595=) c.1395T>C (p.Asp465=) n.215T>C c.984T>C (p.Asp328=) | ClinVar gnomAD v4 |
| 2 | g.206127938A>T | CA350043713 | NDUFS1 | c.1743T>A (p.Asp581Glu) c.1572T>A (p.Asp524Glu) c.1410T>A (p.Asp470Glu) c.1635T>A (p.Asp545Glu) c.1785T>A (p.Asp595Glu) c.1395T>A (p.Asp465Glu) n.215T>A c.984T>A (p.Asp328Glu) | dbSNP |
| 2 | g.206127939T>A | CA350043724 | NDUFS1 | c.1742A>T (p.Asp581Val) c.1571A>T (p.Asp524Val) c.1409A>T (p.Asp470Val) c.1634A>T (p.Asp545Val) c.1784A>T (p.Asp595Val) c.1394A>T (p.Asp465Val) n.214A>T c.983A>T (p.Asp328Val) | gnomAD v4 |
| 2 | g.206127939T>C | CA350043720 | NDUFS1 | c.1742A>G (p.Asp581Gly) c.1571A>G (p.Asp524Gly) c.1409A>G (p.Asp470Gly) c.1634A>G (p.Asp545Gly) c.1784A>G (p.Asp595Gly) c.1394A>G (p.Asp465Gly) n.214A>G c.983A>G (p.Asp328Gly) | dbSNP gnomAD v4 |
| 2 | g.206127939T>G | CA350043717 | NDUFS1 | c.1742A>C (p.Asp581Ala) c.1571A>C (p.Asp524Ala) c.1409A>C (p.Asp470Ala) c.1634A>C (p.Asp545Ala) c.1784A>C (p.Asp595Ala) c.1394A>C (p.Asp465Ala) n.214A>C c.983A>C (p.Asp328Ala) | |
| 2 | g.206127939T= | CA2496479135 | NDUFS1 | c.1742A= (p.Asp581=) c.1571A= (p.Asp524=) c.1409A= (p.Asp470=) c.1634A= (p.Asp545=) c.1784A= (p.Asp595=) c.1394A= (p.Asp465=) n.214A= c.983A= (p.Asp328=) | |
| 2 | g.206127940C>A | CA350043727 | NDUFS1 | c.1741G>T (p.Asp581Tyr) c.1570G>T (p.Asp524Tyr) c.1408G>T (p.Asp470Tyr) c.1633G>T (p.Asp545Tyr) c.1783G>T (p.Asp595Tyr) c.1393G>T (p.Asp465Tyr) n.213G>T c.982G>T (p.Asp328Tyr) | |
| 2 | g.206127940C>G | CA350043728 | NDUFS1 | c.1741G>C (p.Asp581His) c.1570G>C (p.Asp524His) c.1408G>C (p.Asp470His) c.1633G>C (p.Asp545His) c.1783G>C (p.Asp595His) c.1393G>C (p.Asp465His) n.213G>C c.982G>C (p.Asp328His) | |
| 2 | g.206127940C>T | CA350043731 | NDUFS1 | c.1741G>A (p.Asp581Asn) c.1570G>A (p.Asp524Asn) c.1408G>A (p.Asp470Asn) c.1633G>A (p.Asp545Asn) c.1783G>A (p.Asp595Asn) c.1393G>A (p.Asp465Asn) n.213G>A c.982G>A (p.Asp328Asn) | |
| 2 | g.206127941A= | CA2496479136 | NDUFS1 | c.1740T= (p.Ala580=) c.1569T= (p.Ala523=) c.1407T= (p.Ala469=) c.1632T= (p.Ala544=) c.1782T= (p.Ala594=) c.1392T= (p.Ala464=) n.212T= c.981T= (p.Ala327=) | |
| 2 | g.206127941A>C | CA430943488 | NDUFS1 | c.1740T>G (p.Ala580=) c.1569T>G (p.Ala523=) c.1407T>G (p.Ala469=) c.1632T>G (p.Ala544=) c.1782T>G (p.Ala594=) c.1392T>G (p.Ala464=) n.212T>G c.981T>G (p.Ala327=) | |
| 2 | g.206127941A>G | CA2070357 | NDUFS1 | c.1740T>C (p.Ala580=) c.1569T>C (p.Ala523=) c.1407T>C (p.Ala469=) c.1632T>C (p.Ala544=) c.1782T>C (p.Ala594=) c.1392T>C (p.Ala464=) n.212T>C c.981T>C (p.Ala327=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.206127941A>T | CA430943489 | NDUFS1 | c.1740T>A (p.Ala580=) c.1569T>A (p.Ala523=) c.1407T>A (p.Ala469=) c.1632T>A (p.Ala544=) c.1782T>A (p.Ala594=) c.1392T>A (p.Ala464=) n.212T>A c.981T>A (p.Ala327=) | |
| 2 | g.206127942G>A | CA350043739 | NDUFS1 | c.1739C>T (p.Ala580Val) c.1568C>T (p.Ala523Val) c.1406C>T (p.Ala469Val) c.1631C>T (p.Ala544Val) c.1781C>T (p.Ala594Val) c.1391C>T (p.Ala464Val) n.211C>T c.980C>T (p.Ala327Val) | dbSNP |
| 2 | g.206127942G>C | CA350043741 | NDUFS1 | c.1739C>G (p.Ala580Gly) c.1568C>G (p.Ala523Gly) c.1406C>G (p.Ala469Gly) c.1631C>G (p.Ala544Gly) c.1781C>G (p.Ala594Gly) c.1391C>G (p.Ala464Gly) n.211C>G c.980C>G (p.Ala327Gly) | |
| 2 | g.206127942G= | CA2496479137 | NDUFS1 | c.1739C= (p.Ala580=) c.1568C= (p.Ala523=) c.1406C= (p.Ala469=) c.1631C= (p.Ala544=) c.1781C= (p.Ala594=) c.1391C= (p.Ala464=) n.211C= c.980C= (p.Ala327=) | |
| 2 | g.206127942G>T | CA350043743 | NDUFS1 | c.1739C>A (p.Ala580Asp) c.1568C>A (p.Ala523Asp) c.1406C>A (p.Ala469Asp) c.1631C>A (p.Ala544Asp) c.1781C>A (p.Ala594Asp) c.1391C>A (p.Ala464Asp) n.211C>A c.980C>A (p.Ala327Asp) | |
| 2 | g.206127943C>A | CA350043745 | NDUFS1 | c.1738G>T (p.Ala580Ser) c.1567G>T (p.Ala523Ser) c.1405G>T (p.Ala469Ser) c.1630G>T (p.Ala544Ser) c.1780G>T (p.Ala594Ser) c.1390G>T (p.Ala464Ser) n.210G>T c.979G>T (p.Ala327Ser) | COSMIC |
| 2 | g.206127943C>G | CA350043749 | NDUFS1 | c.1738G>C (p.Ala580Pro) c.1567G>C (p.Ala523Pro) c.1405G>C (p.Ala469Pro) c.1630G>C (p.Ala544Pro) c.1780G>C (p.Ala594Pro) c.1390G>C (p.Ala464Pro) n.210G>C c.979G>C (p.Ala327Pro) | |
| 2 | g.206127943C>T | CA350043751 | NDUFS1 | c.1738G>A (p.Ala580Thr) c.1567G>A (p.Ala523Thr) c.1405G>A (p.Ala469Thr) c.1630G>A (p.Ala544Thr) c.1780G>A (p.Ala594Thr) c.1390G>A (p.Ala464Thr) n.210G>A c.979G>A (p.Ala327Thr) | |
| 2 | g.206127944T>A | CA430943495 | NDUFS1 | c.1737A>T (p.Ile579=) c.1566A>T (p.Ile522=) c.1404A>T (p.Ile468=) c.1629A>T (p.Ile543=) c.1779A>T (p.Ile593=) c.1389A>T (p.Ile463=) n.209A>T c.978A>T (p.Ile326=) | |
| 2 | g.206127944T>C | CA350043753 | NDUFS1 | c.1737A>G (p.Ile579Met) c.1566A>G (p.Ile522Met) c.1404A>G (p.Ile468Met) c.1629A>G (p.Ile543Met) c.1779A>G (p.Ile593Met) c.1389A>G (p.Ile463Met) n.209A>G c.978A>G (p.Ile326Met) | |
| 2 | g.206127944T>G | CA430943494 | NDUFS1 | c.1737A>C (p.Ile579=) c.1566A>C (p.Ile522=) c.1404A>C (p.Ile468=) c.1629A>C (p.Ile543=) c.1779A>C (p.Ile593=) c.1389A>C (p.Ile463=) n.209A>C c.978A>C (p.Ile326=) | |
| 2 | g.206127945A>C | CA350043757 | NDUFS1 | c.1736T>G (p.Ile579Arg) c.1565T>G (p.Ile522Arg) c.1403T>G (p.Ile468Arg) c.1628T>G (p.Ile543Arg) c.1778T>G (p.Ile593Arg) c.1388T>G (p.Ile463Arg) n.208T>G c.977T>G (p.Ile326Arg) | |
| 2 | g.206127945A>G | CA350043756 | NDUFS1 | c.1736T>C (p.Ile579Thr) c.1565T>C (p.Ile522Thr) c.1403T>C (p.Ile468Thr) c.1628T>C (p.Ile543Thr) c.1778T>C (p.Ile593Thr) c.1388T>C (p.Ile463Thr) n.208T>C c.977T>C (p.Ile326Thr) | |
| 2 | g.206127945A>T | CA350043755 | NDUFS1 | c.1736T>A (p.Ile579Lys) c.1565T>A (p.Ile522Lys) c.1403T>A (p.Ile468Lys) c.1628T>A (p.Ile543Lys) c.1778T>A (p.Ile593Lys) c.1388T>A (p.Ile463Lys) n.208T>A c.977T>A (p.Ile326Lys) | |
| 2 | g.206127946T>A | CA350043758 | NDUFS1 | c.1735A>T (p.Ile579Leu) c.1564A>T (p.Ile522Leu) c.1402A>T (p.Ile468Leu) c.1627A>T (p.Ile543Leu) c.1777A>T (p.Ile593Leu) c.1387A>T (p.Ile463Leu) n.207A>T c.976A>T (p.Ile326Leu) | |
| 2 | g.206127946T>C | CA2070358 | NDUFS1 | c.1735A>G (p.Ile579Val) c.1564A>G (p.Ile522Val) c.1402A>G (p.Ile468Val) c.1627A>G (p.Ile543Val) c.1777A>G (p.Ile593Val) c.1387A>G (p.Ile463Val) n.207A>G c.976A>G (p.Ile326Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.206127946T>G | CA350043759 | NDUFS1 | c.1735A>C (p.Ile579Leu) c.1564A>C (p.Ile522Leu) c.1402A>C (p.Ile468Leu) c.1627A>C (p.Ile543Leu) c.1777A>C (p.Ile593Leu) c.1387A>C (p.Ile463Leu) n.207A>C c.976A>C (p.Ile326Leu) | |
| 2 | g.206127946T= | CA2496479138 | NDUFS1 | c.1735A= (p.Ile579=) c.1564A= (p.Ile522=) c.1402A= (p.Ile468=) c.1627A= (p.Ile543=) c.1777A= (p.Ile593=) c.1387A= (p.Ile463=) n.207A= c.976A= (p.Ile326=) | |
| 2 | g.206127947G>A | CA430943505 | NDUFS1 | c.1734C>T (p.Pro578=) c.1563C>T (p.Pro521=) c.1401C>T (p.Pro467=) c.1626C>T (p.Pro542=) c.1776C>T (p.Pro592=) c.1386C>T (p.Pro462=) n.206C>T c.975C>T (p.Pro325=) | |
| 2 | g.206127947G>C | CA430943509 | NDUFS1 | c.1734C>G (p.Pro578=) c.1563C>G (p.Pro521=) c.1401C>G (p.Pro467=) c.1626C>G (p.Pro542=) c.1776C>G (p.Pro592=) c.1386C>G (p.Pro462=) n.206C>G c.975C>G (p.Pro325=) | |
| 2 | g.206127947G>T | CA430943507 | NDUFS1 | c.1734C>A (p.Pro578=) c.1563C>A (p.Pro521=) c.1401C>A (p.Pro467=) c.1626C>A (p.Pro542=) c.1776C>A (p.Pro592=) c.1386C>A (p.Pro462=) n.206C>A c.975C>A (p.Pro325=) | |
| 2 | g.206127948_206127949del | CA2753990707 | NDUFS1 | c.1733_1734del (p.Pro578HisfsTer3) c.1562_1563del (p.Pro521HisfsTer3) c.1400_1401del (p.Pro467HisfsTer3) c.1625_1626del (p.Pro542HisfsTer3) c.1775_1776del (p.Pro592HisfsTer3) c.1385_1386del (p.Pro462HisfsTer3) n.205_206del c.974_975del (p.Pro325HisfsTer3) | |
| 2 | g.206127948G>A | CA350043762 | NDUFS1 | c.1733C>T (p.Pro578Leu) c.1562C>T (p.Pro521Leu) c.1400C>T (p.Pro467Leu) c.1625C>T (p.Pro542Leu) c.1775C>T (p.Pro592Leu) c.1385C>T (p.Pro462Leu) n.205C>T c.974C>T (p.Pro325Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.206127948G>C | CA350043768 | NDUFS1 | c.1733C>G (p.Pro578Arg) c.1562C>G (p.Pro521Arg) c.1400C>G (p.Pro467Arg) c.1625C>G (p.Pro542Arg) c.1775C>G (p.Pro592Arg) c.1385C>G (p.Pro462Arg) n.205C>G c.974C>G (p.Pro325Arg) | |
| 2 | g.206127948G= | CA2496479139 | NDUFS1 | c.1733C= (p.Pro578=) c.1562C= (p.Pro521=) c.1400C= (p.Pro467=) c.1625C= (p.Pro542=) c.1775C= (p.Pro592=) c.1385C= (p.Pro462=) n.205C= c.974C= (p.Pro325=) | |
| 2 | g.206127948G>T | CA350043771 | NDUFS1 | c.1733C>A (p.Pro578His) c.1562C>A (p.Pro521His) c.1400C>A (p.Pro467His) c.1625C>A (p.Pro542His) c.1775C>A (p.Pro592His) c.1385C>A (p.Pro462His) n.205C>A c.974C>A (p.Pro325His) | |
| 2 | g.206127949G>A | CA350043772 | NDUFS1 | c.1732C>T (p.Pro578Ser) c.1561C>T (p.Pro521Ser) c.1399C>T (p.Pro467Ser) c.1624C>T (p.Pro542Ser) c.1774C>T (p.Pro592Ser) c.1384C>T (p.Pro462Ser) n.204C>T c.973C>T (p.Pro325Ser) | |
| 2 | g.206127949G>C | CA350043774 | NDUFS1 | c.1732C>G (p.Pro578Ala) c.1561C>G (p.Pro521Ala) c.1399C>G (p.Pro467Ala) c.1624C>G (p.Pro542Ala) c.1774C>G (p.Pro592Ala) c.1384C>G (p.Pro462Ala) n.204C>G c.973C>G (p.Pro325Ala) | |
| 2 | g.206127949G>T | CA350043776 | NDUFS1 | c.1732C>A (p.Pro578Thr) c.1561C>A (p.Pro521Thr) c.1399C>A (p.Pro467Thr) c.1624C>A (p.Pro542Thr) c.1774C>A (p.Pro592Thr) c.1384C>A (p.Pro462Thr) n.204C>A c.973C>A (p.Pro325Thr) | |
| 2 | g.206127950A= | CA2496479140 | NDUFS1 | c.1731T= (p.Ala577=) c.1560T= (p.Ala520=) c.1398T= (p.Ala466=) c.1623T= (p.Ala541=) c.1773T= (p.Ala591=) c.1383T= (p.Ala461=) n.203T= c.972T= (p.Ala324=) | |
| 2 | g.206127950A>C | CA430943517 | NDUFS1 | c.1731T>G (p.Ala577=) c.1560T>G (p.Ala520=) c.1398T>G (p.Ala466=) c.1623T>G (p.Ala541=) c.1773T>G (p.Ala591=) c.1383T>G (p.Ala461=) n.203T>G c.972T>G (p.Ala324=) | |
| 2 | g.206127950A>G | CA430943519 | NDUFS1 | c.1731T>C (p.Ala577=) c.1560T>C (p.Ala520=) c.1398T>C (p.Ala466=) c.1623T>C (p.Ala541=) c.1773T>C (p.Ala591=) c.1383T>C (p.Ala461=) n.203T>C c.972T>C (p.Ala324=) | dbSNP gnomAD v4 |
| 2 | g.206127950A>T | CA430943521 | NDUFS1 | c.1731T>A (p.Ala577=) c.1560T>A (p.Ala520=) c.1398T>A (p.Ala466=) c.1623T>A (p.Ala541=) c.1773T>A (p.Ala591=) c.1383T>A (p.Ala461=) n.203T>A c.972T>A (p.Ala324=) | |
| 2 | g.206127951G>A | CA350043778 | NDUFS1 | c.1730C>T (p.Ala577Val) c.1559C>T (p.Ala520Val) c.1397C>T (p.Ala466Val) c.1622C>T (p.Ala541Val) c.1772C>T (p.Ala591Val) c.1382C>T (p.Ala461Val) n.202C>T c.971C>T (p.Ala324Val) | dbSNP |
| 2 | g.206127951G>C | CA350043780 | NDUFS1 | c.1730C>G (p.Ala577Gly) c.1559C>G (p.Ala520Gly) c.1397C>G (p.Ala466Gly) c.1622C>G (p.Ala541Gly) c.1772C>G (p.Ala591Gly) c.1382C>G (p.Ala461Gly) n.202C>G c.971C>G (p.Ala324Gly) | |
| 2 | g.206127951G= | CA2496479141 | NDUFS1 | c.1730C= (p.Ala577=) c.1559C= (p.Ala520=) c.1397C= (p.Ala466=) c.1622C= (p.Ala541=) c.1772C= (p.Ala591=) c.1382C= (p.Ala461=) n.202C= c.971C= (p.Ala324=) | |
| 2 | g.206127951G>T | CA350043782 | NDUFS1 | c.1730C>A (p.Ala577Asp) c.1559C>A (p.Ala520Asp) c.1397C>A (p.Ala466Asp) c.1622C>A (p.Ala541Asp) c.1772C>A (p.Ala591Asp) c.1382C>A (p.Ala461Asp) n.202C>A c.971C>A (p.Ala324Asp) | ClinVar dbSNP |
| 2 | g.206127951_206127954del | CA2753990708 | NDUFS1 | c.1727_1730del (p.Gly576ValfsTer3) c.1556_1559del (p.Gly519ValfsTer3) c.1394_1397del (p.Gly465ValfsTer3) c.1619_1622del (p.Gly540ValfsTer3) c.1769_1772del (p.Gly590ValfsTer3) c.1379_1382del (p.Gly460ValfsTer3) n.199_202del c.968_971del (p.Gly323ValfsTer3) | |
| 2 | g.206127952C>A | CA350043787 | NDUFS1 | c.1729G>T (p.Ala577Ser) c.1558G>T (p.Ala520Ser) c.1396G>T (p.Ala466Ser) c.1621G>T (p.Ala541Ser) c.1771G>T (p.Ala591Ser) c.1381G>T (p.Ala461Ser) n.201G>T c.970G>T (p.Ala324Ser) | |
| 2 | g.206127952C>G | CA350043785 | NDUFS1 | c.1729G>C (p.Ala577Pro) c.1558G>C (p.Ala520Pro) c.1396G>C (p.Ala466Pro) c.1621G>C (p.Ala541Pro) c.1771G>C (p.Ala591Pro) c.1381G>C (p.Ala461Pro) n.201G>C c.970G>C (p.Ala324Pro) | gnomAD v4 |
| 2 | g.206127952C>T | CA350043786 | NDUFS1 | c.1729G>A (p.Ala577Thr) c.1558G>A (p.Ala520Thr) c.1396G>A (p.Ala466Thr) c.1621G>A (p.Ala541Thr) c.1771G>A (p.Ala591Thr) c.1381G>A (p.Ala461Thr) n.201G>A c.970G>A (p.Ala324Thr) | |
| 2 | g.206127953C>A | CA430943532 | NDUFS1 | c.1728G>T (p.Gly576=) c.1557G>T (p.Gly519=) c.1395G>T (p.Gly465=) c.1620G>T (p.Gly540=) c.1770G>T (p.Gly590=) c.1380G>T (p.Gly460=) n.200G>T c.969G>T (p.Gly323=) | |
| 2 | g.206127953C= | CA2496479142 | NDUFS1 | c.1728G= (p.Gly576=) c.1557G= (p.Gly519=) c.1395G= (p.Gly465=) c.1620G= (p.Gly540=) c.1770G= (p.Gly590=) c.1380G= (p.Gly460=) n.200G= c.969G= (p.Gly323=) | |
| 2 | g.206127953C>G | CA2070359 | NDUFS1 | c.1728G>C (p.Gly576=) c.1557G>C (p.Gly519=) c.1395G>C (p.Gly465=) c.1620G>C (p.Gly540=) c.1770G>C (p.Gly590=) c.1380G>C (p.Gly460=) n.200G>C c.969G>C (p.Gly323=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.206127953C>T | CA2070360 | NDUFS1 | c.1728G>A (p.Gly576=) c.1557G>A (p.Gly519=) c.1395G>A (p.Gly465=) c.1620G>A (p.Gly540=) c.1770G>A (p.Gly590=) c.1380G>A (p.Gly460=) n.200G>A c.969G>A (p.Gly323=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.206127954C>A | CA350043788 | NDUFS1 | c.1727G>T (p.Gly576Val) c.1556G>T (p.Gly519Val) c.1394G>T (p.Gly465Val) c.1619G>T (p.Gly540Val) c.1769G>T (p.Gly590Val) c.1379G>T (p.Gly460Val) n.199G>T c.968G>T (p.Gly323Val) | |
| 2 | g.206127954C= | CA2496479143 | NDUFS1 | c.1727G= (p.Gly576=) c.1556G= (p.Gly519=) c.1394G= (p.Gly465=) c.1619G= (p.Gly540=) c.1769G= (p.Gly590=) c.1379G= (p.Gly460=) n.199G= c.968G= (p.Gly323=) | |
| 2 | g.206127954C>G | CA350043789 | NDUFS1 | c.1727G>C (p.Gly576Ala) c.1556G>C (p.Gly519Ala) c.1394G>C (p.Gly465Ala) c.1619G>C (p.Gly540Ala) c.1769G>C (p.Gly590Ala) c.1379G>C (p.Gly460Ala) n.199G>C c.968G>C (p.Gly323Ala) | |
| 2 | g.206127954C>T | CA323085 | NDUFS1 | c.1727G>A (p.Gly576Glu) c.1556G>A (p.Gly519Glu) c.1394G>A (p.Gly465Glu) c.1619G>A (p.Gly540Glu) c.1769G>A (p.Gly590Glu) c.1379G>A (p.Gly460Glu) n.199G>A c.968G>A (p.Gly323Glu) | ClinVar dbSNP |
| 2 | g.206127955C>A | CA350043794 | NDUFS1 | c.1726G>T (p.Gly576Trp) c.1555G>T (p.Gly519Trp) c.1393G>T (p.Gly465Trp) c.1618G>T (p.Gly540Trp) c.1768G>T (p.Gly590Trp) c.1378G>T (p.Gly460Trp) n.198G>T c.967G>T (p.Gly323Trp) | |
| 2 | g.206127955C>G | CA350043796 | NDUFS1 | c.1726G>C (p.Gly576Arg) c.1555G>C (p.Gly519Arg) c.1393G>C (p.Gly465Arg) c.1618G>C (p.Gly540Arg) c.1768G>C (p.Gly590Arg) c.1378G>C (p.Gly460Arg) n.198G>C c.967G>C (p.Gly323Arg) | |
| 2 | g.206127955C>T | CA350043801 | NDUFS1 | c.1726G>A (p.Gly576Arg) c.1555G>A (p.Gly519Arg) c.1393G>A (p.Gly465Arg) c.1618G>A (p.Gly540Arg) c.1768G>A (p.Gly590Arg) c.1378G>A (p.Gly460Arg) n.198G>A c.967G>A (p.Gly323Arg) | |
| 2 | g.206127956A>C | CA430943548 | NDUFS1 | c.1725T>G (p.Val575=) c.1554T>G (p.Val518=) c.1392T>G (p.Val464=) c.1617T>G (p.Val539=) c.1767T>G (p.Val589=) c.1377T>G (p.Val459=) n.197T>G c.966T>G (p.Val322=) | |
| 2 | g.206127956A>G | CA430943546 | NDUFS1 | c.1725T>C (p.Val575=) c.1554T>C (p.Val518=) c.1392T>C (p.Val464=) c.1617T>C (p.Val539=) c.1767T>C (p.Val589=) c.1377T>C (p.Val459=) n.197T>C c.966T>C (p.Val322=) | gnomAD v4 |
| 2 | g.206127956A>T | CA430943544 | NDUFS1 | c.1725T>A (p.Val575=) c.1554T>A (p.Val518=) c.1392T>A (p.Val464=) c.1617T>A (p.Val539=) c.1767T>A (p.Val589=) c.1377T>A (p.Val459=) n.197T>A c.966T>A (p.Val322=) | |
| 2 | g.206127957A>C | CA350043805 | NDUFS1 | c.1724T>G (p.Val575Gly) c.1553T>G (p.Val518Gly) c.1391T>G (p.Val464Gly) c.1616T>G (p.Val539Gly) c.1766T>G (p.Val589Gly) c.1376T>G (p.Val459Gly) n.196T>G c.965T>G (p.Val322Gly) | |
| 2 | g.206127957A>G | CA350043807 | NDUFS1 | c.1724T>C (p.Val575Ala) c.1553T>C (p.Val518Ala) c.1391T>C (p.Val464Ala) c.1616T>C (p.Val539Ala) c.1766T>C (p.Val589Ala) c.1376T>C (p.Val459Ala) n.196T>C c.965T>C (p.Val322Ala) | gnomAD v4 |
| 2 | g.206127957A>T | CA350043808 | NDUFS1 | c.1724T>A (p.Val575Asp) c.1553T>A (p.Val518Asp) c.1391T>A (p.Val464Asp) c.1616T>A (p.Val539Asp) c.1766T>A (p.Val589Asp) c.1376T>A (p.Val459Asp) n.196T>A c.965T>A (p.Val322Asp) | |
| 2 | g.206127958C>A | CA350043812 | NDUFS1 | c.1723G>T (p.Val575Phe) c.1552G>T (p.Val518Phe) c.1390G>T (p.Val464Phe) c.1615G>T (p.Val539Phe) c.1765G>T (p.Val589Phe) c.1375G>T (p.Val459Phe) n.195G>T c.964G>T (p.Val322Phe) | |
| 2 | g.206127958C= | CA2496479144 | NDUFS1 | c.1723G= (p.Val575=) c.1552G= (p.Val518=) c.1390G= (p.Val464=) c.1615G= (p.Val539=) c.1765G= (p.Val589=) c.1375G= (p.Val459=) n.195G= c.964G= (p.Val322=) | |
| 2 | g.206127958C>G | CA350043813 | NDUFS1 | c.1723G>C (p.Val575Leu) c.1552G>C (p.Val518Leu) c.1390G>C (p.Val464Leu) c.1615G>C (p.Val539Leu) c.1765G>C (p.Val589Leu) c.1375G>C (p.Val459Leu) n.195G>C c.964G>C (p.Val322Leu) | |
| 2 | g.206127958C>T | CA2070361 | NDUFS1 | c.1723G>A (p.Val575Ile) c.1552G>A (p.Val518Ile) c.1390G>A (p.Val464Ile) c.1615G>A (p.Val539Ile) c.1765G>A (p.Val589Ile) c.1375G>A (p.Val459Ile) n.195G>A c.964G>A (p.Val322Ile) | dbSNP ExAC gnomAD v2 |
| 2 | g.206127959A>C | CA350043817 | NDUFS1 | c.1722T>G (p.Asp574Glu) c.1551T>G (p.Asp517Glu) c.1389T>G (p.Asp463Glu) c.1614T>G (p.Asp538Glu) c.1764T>G (p.Asp588Glu) c.1374T>G (p.Asp458Glu) n.194T>G c.963T>G (p.Asp321Glu) | |
| 2 | g.206127959A>G | CA430943560 | NDUFS1 | c.1722T>C (p.Asp574=) c.1551T>C (p.Asp517=) c.1389T>C (p.Asp463=) c.1614T>C (p.Asp538=) c.1764T>C (p.Asp588=) c.1374T>C (p.Asp458=) n.194T>C c.963T>C (p.Asp321=) | |
| 2 | g.206127959A>T | CA350043814 | NDUFS1 | c.1722T>A (p.Asp574Glu) c.1551T>A (p.Asp517Glu) c.1389T>A (p.Asp463Glu) c.1614T>A (p.Asp538Glu) c.1764T>A (p.Asp588Glu) c.1374T>A (p.Asp458Glu) n.194T>A c.963T>A (p.Asp321Glu) | COSMIC |
| 2 | g.206127960T>A | CA350043820 | NDUFS1 | c.1721A>T (p.Asp574Val) c.1550A>T (p.Asp517Val) c.1388A>T (p.Asp463Val) c.1613A>T (p.Asp538Val) c.1763A>T (p.Asp588Val) c.1373A>T (p.Asp458Val) n.193A>T c.962A>T (p.Asp321Val) | gnomAD v4 |
| 2 | g.206127960T>C | CA350043821 | NDUFS1 | c.1721A>G (p.Asp574Gly) c.1550A>G (p.Asp517Gly) c.1388A>G (p.Asp463Gly) c.1613A>G (p.Asp538Gly) c.1763A>G (p.Asp588Gly) c.1373A>G (p.Asp458Gly) n.193A>G c.962A>G (p.Asp321Gly) | |
| 2 | g.206127960T>G | CA350043825 | NDUFS1 | c.1721A>C (p.Asp574Ala) c.1550A>C (p.Asp517Ala) c.1388A>C (p.Asp463Ala) c.1613A>C (p.Asp538Ala) c.1763A>C (p.Asp588Ala) c.1373A>C (p.Asp458Ala) n.193A>C c.962A>C (p.Asp321Ala) | |
| 2 | g.206127961C>A | CA350043828 | NDUFS1 | c.1720G>T (p.Asp574Tyr) c.1549G>T (p.Asp517Tyr) c.1387G>T (p.Asp463Tyr) c.1612G>T (p.Asp538Tyr) c.1762G>T (p.Asp588Tyr) c.1372G>T (p.Asp458Tyr) n.192G>T c.961G>T (p.Asp321Tyr) | |
| 2 | g.206127961C= | CA2496479145 | NDUFS1 | c.1720G= (p.Asp574=) c.1549G= (p.Asp517=) c.1387G= (p.Asp463=) c.1612G= (p.Asp538=) c.1762G= (p.Asp588=) c.1372G= (p.Asp458=) n.192G= c.961G= (p.Asp321=) | |
| 2 | g.206127961C>G | CA350043831 | NDUFS1 | c.1720G>C (p.Asp574His) c.1549G>C (p.Asp517His) c.1387G>C (p.Asp463His) c.1612G>C (p.Asp538His) c.1762G>C (p.Asp588His) c.1372G>C (p.Asp458His) n.192G>C c.961G>C (p.Asp321His) | |
| 2 | g.206127961C>T | CA63648769 | NDUFS1 | c.1720G>A (p.Asp574Asn) c.1549G>A (p.Asp517Asn) c.1387G>A (p.Asp463Asn) c.1612G>A (p.Asp538Asn) c.1762G>A (p.Asp588Asn) c.1372G>A (p.Asp458Asn) n.192G>A c.961G>A (p.Asp321Asn) | dbSNP gnomAD v4 |
| 2 | g.206127962A>C | CA430943573 | NDUFS1 | c.1719T>G (p.Gly573=) c.1548T>G (p.Gly516=) c.1386T>G (p.Gly462=) c.1611T>G (p.Gly537=) c.1761T>G (p.Gly587=) c.1371T>G (p.Gly457=) n.191T>G c.960T>G (p.Gly320=) | gnomAD v4 |
| 2 | g.206127962A>G | CA430943575 | NDUFS1 | c.1719T>C (p.Gly573=) c.1548T>C (p.Gly516=) c.1386T>C (p.Gly462=) c.1611T>C (p.Gly537=) c.1761T>C (p.Gly587=) c.1371T>C (p.Gly457=) n.191T>C c.960T>C (p.Gly320=) | |
| 2 | g.206127962A>T | CA430943577 | NDUFS1 | c.1719T>A (p.Gly573=) c.1548T>A (p.Gly516=) c.1386T>A (p.Gly462=) c.1611T>A (p.Gly537=) c.1761T>A (p.Gly587=) c.1371T>A (p.Gly457=) n.191T>A c.960T>A (p.Gly320=) | |
| 2 | g.206127963C>A | CA2070362 | NDUFS1 | c.1718G>T (p.Gly573Val) c.1547G>T (p.Gly516Val) c.1385G>T (p.Gly462Val) c.1610G>T (p.Gly537Val) c.1760G>T (p.Gly587Val) c.1370G>T (p.Gly457Val) n.190G>T c.959G>T (p.Gly320Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.206127963C= | CA2496479146 | NDUFS1 | c.1718G= (p.Gly573=) c.1547G= (p.Gly516=) c.1385G= (p.Gly462=) c.1610G= (p.Gly537=) c.1760G= (p.Gly587=) c.1370G= (p.Gly457=) n.190G= c.959G= (p.Gly320=) | |
| 2 | g.206127963C>G | CA350043837 | NDUFS1 | c.1718G>C (p.Gly573Ala) c.1547G>C (p.Gly516Ala) c.1385G>C (p.Gly462Ala) c.1610G>C (p.Gly537Ala) c.1760G>C (p.Gly587Ala) c.1370G>C (p.Gly457Ala) n.190G>C c.959G>C (p.Gly320Ala) | |
| 2 | g.206127963C>T | CA350043839 | NDUFS1 | c.1718G>A (p.Gly573Asp) c.1547G>A (p.Gly516Asp) c.1385G>A (p.Gly462Asp) c.1610G>A (p.Gly537Asp) c.1760G>A (p.Gly587Asp) c.1370G>A (p.Gly457Asp) n.190G>A c.959G>A (p.Gly320Asp) | |
| 2 | g.206127964C>A | CA350043845 | NDUFS1 | c.1717G>T (p.Gly573Cys) c.1546G>T (p.Gly516Cys) c.1384G>T (p.Gly462Cys) c.1609G>T (p.Gly537Cys) c.1759G>T (p.Gly587Cys) c.1369G>T (p.Gly457Cys) n.189G>T c.958G>T (p.Gly320Cys) | |
| 2 | g.206127964C= | CA2496479147 | NDUFS1 | c.1717G= (p.Gly573=) c.1546G= (p.Gly516=) c.1384G= (p.Gly462=) c.1609G= (p.Gly537=) c.1759G= (p.Gly587=) c.1369G= (p.Gly457=) n.189G= c.958G= (p.Gly320=) | |
| 2 | g.206127964C>G | CA350043848 | NDUFS1 | c.1717G>C (p.Gly573Arg) c.1546G>C (p.Gly516Arg) c.1384G>C (p.Gly462Arg) c.1609G>C (p.Gly537Arg) c.1759G>C (p.Gly587Arg) c.1369G>C (p.Gly457Arg) n.189G>C c.958G>C (p.Gly320Arg) | |
| 2 | g.206127964C>T | CA350043851 | NDUFS1 | c.1717G>A (p.Gly573Ser) c.1546G>A (p.Gly516Ser) c.1384G>A (p.Gly462Ser) c.1609G>A (p.Gly537Ser) c.1759G>A (p.Gly587Ser) c.1369G>A (p.Gly457Ser) n.189G>A c.958G>A (p.Gly320Ser) | dbSNP gnomAD v4 |
| 2 | g.206127965A= | CA2496479148 | NDUFS1 | c.1716T= (p.His572=) c.1545T= (p.His515=) c.1383T= (p.His461=) c.1608T= (p.His536=) c.1758T= (p.His586=) c.1368T= (p.His456=) n.188T= c.957T= (p.His319=) | |
| 2 | g.206127965A>C | CA350043855 | NDUFS1 | c.1716T>G (p.His572Gln) c.1545T>G (p.His515Gln) c.1383T>G (p.His461Gln) c.1608T>G (p.His536Gln) c.1758T>G (p.His586Gln) c.1368T>G (p.His456Gln) n.188T>G c.957T>G (p.His319Gln) | |
| 2 | g.206127965A>G | CA430943588 | NDUFS1 | c.1716T>C (p.His572=) c.1545T>C (p.His515=) c.1383T>C (p.His461=) c.1608T>C (p.His536=) c.1758T>C (p.His586=) c.1368T>C (p.His456=) n.188T>C c.957T>C (p.His319=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.206127965A>T | CA350043857 | NDUFS1 | c.1716T>A (p.His572Gln) c.1545T>A (p.His515Gln) c.1383T>A (p.His461Gln) c.1608T>A (p.His536Gln) c.1758T>A (p.His586Gln) c.1368T>A (p.His456Gln) n.188T>A c.957T>A (p.His319Gln) | |
| 2 | g.206127966T>A | CA350043863 | NDUFS1 | c.1715A>T (p.His572Leu) c.1544A>T (p.His515Leu) c.1382A>T (p.His461Leu) c.1607A>T (p.His536Leu) c.1757A>T (p.His586Leu) c.1367A>T (p.His456Leu) n.187A>T c.956A>T (p.His319Leu) | |
| 2 | g.206127966T>C | CA350043865 | NDUFS1 | c.1715A>G (p.His572Arg) c.1544A>G (p.His515Arg) c.1382A>G (p.His461Arg) c.1607A>G (p.His536Arg) c.1757A>G (p.His586Arg) c.1367A>G (p.His456Arg) n.187A>G c.956A>G (p.His319Arg) | |
| 2 | g.206127966T>G | CA350043867 | NDUFS1 | c.1715A>C (p.His572Pro) c.1544A>C (p.His515Pro) c.1382A>C (p.His461Pro) c.1607A>C (p.His536Pro) c.1757A>C (p.His586Pro) c.1367A>C (p.His456Pro) n.187A>C c.956A>C (p.His319Pro) | |
| 2 | g.206127966_206127967insACA | CA2753990709 | NDUFS1 | c.1714_1715insTGT (p.His572delinsLeuTyr) c.1543_1544insTGT (p.His515delinsLeuTyr) c.1381_1382insTGT (p.His461delinsLeuTyr) c.1606_1607insTGT (p.His536delinsLeuTyr) c.1756_1757insTGT (p.His586delinsLeuTyr) c.1366_1367insTGT (p.His456delinsLeuTyr) n.186_187insTGT c.955_956insTGT (p.His319delinsLeuTyr) | |
| 2 | g.206127967G>A | CA350043870 | NDUFS1 | c.1714C>T (p.His572Tyr) c.1543C>T (p.His515Tyr) c.1381C>T (p.His461Tyr) c.1606C>T (p.His536Tyr) c.1756C>T (p.His586Tyr) c.1366C>T (p.His456Tyr) n.186C>T c.955C>T (p.His319Tyr) | |
| 2 | g.206127967G>C | CA350043872 | NDUFS1 | c.1714C>G (p.His572Asp) c.1543C>G (p.His515Asp) c.1381C>G (p.His461Asp) c.1606C>G (p.His536Asp) c.1756C>G (p.His586Asp) c.1366C>G (p.His456Asp) n.186C>G c.955C>G (p.His319Asp) | |
| 2 | g.206127967G>T | CA350043875 | NDUFS1 | c.1714C>A (p.His572Asn) c.1543C>A (p.His515Asn) c.1381C>A (p.His461Asn) c.1606C>A (p.His536Asn) c.1756C>A (p.His586Asn) c.1366C>A (p.His456Asn) n.186C>A c.955C>A (p.His319Asn) | |
| 2 | g.206127968A>C | CA350043879 | NDUFS1 | c.1713T>G (p.His571Gln) c.1542T>G (p.His514Gln) c.1380T>G (p.His460Gln) c.1605T>G (p.His535Gln) c.1755T>G (p.His585Gln) c.1365T>G (p.His455Gln) n.185T>G c.954T>G (p.His318Gln) | |
| 2 | g.206127968A>G | CA430943607 | NDUFS1 | c.1713T>C (p.His571=) c.1542T>C (p.His514=) c.1380T>C (p.His460=) c.1605T>C (p.His535=) c.1755T>C (p.His585=) c.1365T>C (p.His455=) n.185T>C c.954T>C (p.His318=) | |
| 2 | g.206127968A>T | CA350043884 | NDUFS1 | c.1713T>A (p.His571Gln) c.1542T>A (p.His514Gln) c.1380T>A (p.His460Gln) c.1605T>A (p.His535Gln) c.1755T>A (p.His585Gln) c.1365T>A (p.His455Gln) n.185T>A c.954T>A (p.His318Gln) | |
| 2 | g.206127969T>A | CA350043887 | NDUFS1 | c.1712A>T (p.His571Leu) c.1541A>T (p.His514Leu) c.1379A>T (p.His460Leu) c.1604A>T (p.His535Leu) c.1754A>T (p.His585Leu) c.1364A>T (p.His455Leu) n.184A>T c.953A>T (p.His318Leu) | dbSNP gnomAD v4 |
| 2 | g.206127969T>C | CA350043889 | NDUFS1 | c.1712A>G (p.His571Arg) c.1541A>G (p.His514Arg) c.1379A>G (p.His460Arg) c.1604A>G (p.His535Arg) c.1754A>G (p.His585Arg) c.1364A>G (p.His455Arg) n.184A>G c.953A>G (p.His318Arg) | |
| 2 | g.206127969T>G | CA350043892 | NDUFS1 | c.1712A>C (p.His571Pro) c.1541A>C (p.His514Pro) c.1379A>C (p.His460Pro) c.1604A>C (p.His535Pro) c.1754A>C (p.His585Pro) c.1364A>C (p.His455Pro) n.184A>C c.953A>C (p.His318Pro) | |
| 2 | g.206127969T= | CA2496479149 | NDUFS1 | c.1712A= (p.His571=) c.1541A= (p.His514=) c.1379A= (p.His460=) c.1604A= (p.His535=) c.1754A= (p.His585=) c.1364A= (p.His455=) n.184A= c.953A= (p.His318=) | |
| 2 | g.206127970G>A | CA350043900 | NDUFS1 | c.1711C>T (p.His571Tyr) c.1540C>T (p.His514Tyr) c.1378C>T (p.His460Tyr) c.1603C>T (p.His535Tyr) c.1753C>T (p.His585Tyr) c.1363C>T (p.His455Tyr) n.183C>T c.952C>T (p.His318Tyr) | |
| 2 | g.206127970G>C | CA350043902 | NDUFS1 | c.1711C>G (p.His571Asp) c.1540C>G (p.His514Asp) c.1378C>G (p.His460Asp) c.1603C>G (p.His535Asp) c.1753C>G (p.His585Asp) c.1363C>G (p.His455Asp) n.183C>G c.952C>G (p.His318Asp) | |
| 2 | g.206127970G>T | CA350043896 | NDUFS1 | c.1711C>A (p.His571Asn) c.1540C>A (p.His514Asn) c.1378C>A (p.His460Asn) c.1603C>A (p.His535Asn) c.1753C>A (p.His585Asn) c.1363C>A (p.His455Asn) n.183C>A c.952C>A (p.His318Asn) | |
| 2 | g.206127971T>A | CA430943619 | NDUFS1 | c.1710A>T (p.Gly570=) c.1539A>T (p.Gly513=) c.1377A>T (p.Gly459=) c.1602A>T (p.Gly534=) c.1752A>T (p.Gly584=) c.1362A>T (p.Gly454=) n.182A>T c.951A>T (p.Gly317=) | gnomAD v4 |
| 2 | g.206127971T>C | CA430943621 | NDUFS1 | c.1710A>G (p.Gly570=) c.1539A>G (p.Gly513=) c.1377A>G (p.Gly459=) c.1602A>G (p.Gly534=) c.1752A>G (p.Gly584=) c.1362A>G (p.Gly454=) n.182A>G c.951A>G (p.Gly317=) | |
| 2 | g.206127971T>G | CA430943625 | NDUFS1 | c.1710A>C (p.Gly570=) c.1539A>C (p.Gly513=) c.1377A>C (p.Gly459=) c.1602A>C (p.Gly534=) c.1752A>C (p.Gly584=) c.1362A>C (p.Gly454=) n.182A>C c.951A>C (p.Gly317=) | |
| 2 | g.206127972C>A | CA350043905 | NDUFS1 | c.1709G>T (p.Gly570Val) c.1538G>T (p.Gly513Val) c.1376G>T (p.Gly459Val) c.1601G>T (p.Gly534Val) c.1751G>T (p.Gly584Val) c.1361G>T (p.Gly454Val) n.181G>T c.950G>T (p.Gly317Val) | |
| 2 | g.206127972C= | CA2496479150 | NDUFS1 | c.1709G= (p.Gly570=) c.1538G= (p.Gly513=) c.1376G= (p.Gly459=) c.1601G= (p.Gly534=) c.1751G= (p.Gly584=) c.1361G= (p.Gly454=) n.181G= c.950G= (p.Gly317=) | |
| 2 | g.206127972C>G | CA63648774 | NDUFS1 | c.1709G>C (p.Gly570Ala) c.1538G>C (p.Gly513Ala) c.1376G>C (p.Gly459Ala) c.1601G>C (p.Gly534Ala) c.1751G>C (p.Gly584Ala) c.1361G>C (p.Gly454Ala) n.181G>C c.950G>C (p.Gly317Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.206127972C>T | CA350043907 | NDUFS1 | c.1709G>A (p.Gly570Glu) c.1538G>A (p.Gly513Glu) c.1376G>A (p.Gly459Glu) c.1601G>A (p.Gly534Glu) c.1751G>A (p.Gly584Glu) c.1361G>A (p.Gly454Glu) n.181G>A c.950G>A (p.Gly317Glu) | |
| 2 | g.206127973C>A | CA350043911 | NDUFS1 | c.1709-1G>T (n.1709-1G>T) c.1538-1G>T (n.1538-1G>T) c.1376-1G>T (n.1376-1G>T) c.1601-1G>T (n.1601-1G>T) c.1751-1G>T (n.1751-1G>T) c.1361-1G>T (n.1361-1G>T) n.181-1G>T c.950-1G>T (n.950-1G>T) | |
| 2 | g.206127973C= | CA2496479151 | NDUFS1 | c.1709-1G= (n.1709-1G=) c.1538-1G= (n.1538-1G=) c.1376-1G= (n.1376-1G=) c.1601-1G= (n.1601-1G=) c.1751-1G= (n.1751-1G=) c.1361-1G= (n.1361-1G=) n.181-1G= c.950-1G= (n.950-1G=) | |
| 2 | g.206127973C>G | CA350043913 | NDUFS1 | c.1709-1G>C (n.1709-1G>C) c.1538-1G>C (n.1538-1G>C) c.1376-1G>C (n.1376-1G>C) c.1601-1G>C (n.1601-1G>C) c.1751-1G>C (n.1751-1G>C) c.1361-1G>C (n.1361-1G>C) n.181-1G>C c.950-1G>C (n.950-1G>C) | |
| 2 | g.206127973C>T | CA323701 | NDUFS1 | c.1709-1G>A (n.1709-1G>A) c.1538-1G>A (n.1538-1G>A) c.1376-1G>A (n.1376-1G>A) c.1601-1G>A (n.1601-1G>A) c.1751-1G>A (n.1751-1G>A) c.1361-1G>A (n.1361-1G>A) n.181-1G>A c.950-1G>A (n.950-1G>A) | dbSNP |
| 2 | g.206127974T>A | CA350043917 | NDUFS1 | c.1709-2A>T (n.1709-2A>T) c.1538-2A>T (n.1538-2A>T) c.1376-2A>T (n.1376-2A>T) c.1601-2A>T (n.1601-2A>T) c.1751-2A>T (n.1751-2A>T) c.1361-2A>T (n.1361-2A>T) n.181-2A>T c.950-2A>T (n.950-2A>T) | |
| 2 | g.206127974T>C | CA350043921 | NDUFS1 | c.1709-2A>G (n.1709-2A>G) c.1538-2A>G (n.1538-2A>G) c.1376-2A>G (n.1376-2A>G) c.1601-2A>G (n.1601-2A>G) c.1751-2A>G (n.1751-2A>G) c.1361-2A>G (n.1361-2A>G) n.181-2A>G c.950-2A>G (n.950-2A>G) | |
| 2 | g.206127974T>G | CA350043928 | NDUFS1 | c.1709-2A>C (n.1709-2A>C) c.1538-2A>C (n.1538-2A>C) c.1376-2A>C (n.1376-2A>C) c.1601-2A>C (n.1601-2A>C) c.1751-2A>C (n.1751-2A>C) c.1361-2A>C (n.1361-2A>C) n.181-2A>C c.950-2A>C (n.950-2A>C) | |
| 2 | g.206127975G>A | CA539388283 | NDUFS1 | c.1709-3C>T (n.1709-3C>T) c.1538-3C>T (n.1538-3C>T) c.1376-3C>T (n.1376-3C>T) c.1601-3C>T (n.1601-3C>T) c.1751-3C>T (n.1751-3C>T) c.1361-3C>T (n.1361-3C>T) n.181-3C>T c.950-3C>T (n.950-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.206127975G= | CA2496479152 | NDUFS1 | c.1709-3C= (n.1709-3C=) c.1538-3C= (n.1538-3C=) c.1376-3C= (n.1376-3C=) c.1601-3C= (n.1601-3C=) c.1751-3C= (n.1751-3C=) c.1361-3C= (n.1361-3C=) n.181-3C= c.950-3C= (n.950-3C=) | |
| 2 | g.206127975G>T | CA2662801065 | NDUFS1 | c.1709-3C>A (n.1709-3C>A) c.1538-3C>A (n.1538-3C>A) c.1376-3C>A (n.1376-3C>A) c.1601-3C>A (n.1601-3C>A) c.1751-3C>A (n.1751-3C>A) c.1361-3C>A (n.1361-3C>A) n.181-3C>A c.950-3C>A (n.950-3C>A) | dbSNP gnomAD v4 |
| 2 | g.206127975_206127980del | CA2753990710 | NDUFS1 | c.1709-8_1709-3del (n.1709-8_1709-3del) c.1538-8_1538-3del (n.1538-8_1538-3del) c.1376-8_1376-3del (n.1376-8_1376-3del) c.1601-8_1601-3del (n.1601-8_1601-3del) c.1751-8_1751-3del (n.1751-8_1751-3del) c.1361-8_1361-3del (n.1361-8_1361-3del) n.181-8_181-3del c.950-8_950-3del (n.950-8_950-3del) | |
| 2 | g.206127976C= | CA2496479153 | NDUFS1 | c.1709-4G= (n.1709-4G=) c.1538-4G= (n.1538-4G=) c.1376-4G= (n.1376-4G=) c.1601-4G= (n.1601-4G=) c.1751-4G= (n.1751-4G=) c.1361-4G= (n.1361-4G=) n.181-4G= c.950-4G= (n.950-4G=) | |
| 2 | g.206127976C>G | CA2662801070 | NDUFS1 | c.1709-4G>C (n.1709-4G>C) c.1538-4G>C (n.1538-4G>C) c.1376-4G>C (n.1376-4G>C) c.1601-4G>C (n.1601-4G>C) c.1751-4G>C (n.1751-4G>C) c.1361-4G>C (n.1361-4G>C) n.181-4G>C c.950-4G>C (n.950-4G>C) | dbSNP gnomAD v4 |
| 2 | g.206127976C>T | CA539388284 | NDUFS1 | c.1709-4G>A (n.1709-4G>A) c.1538-4G>A (n.1538-4G>A) c.1376-4G>A (n.1376-4G>A) c.1601-4G>A (n.1601-4G>A) c.1751-4G>A (n.1751-4G>A) c.1361-4G>A (n.1361-4G>A) n.181-4G>A c.950-4G>A (n.950-4G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.206127977A= | CA2496479154 | NDUFS1 | c.1709-5T= (n.1709-5T=) c.1538-5T= (n.1538-5T=) c.1376-5T= (n.1376-5T=) c.1601-5T= (n.1601-5T=) c.1751-5T= (n.1751-5T=) c.1361-5T= (n.1361-5T=) n.181-5T= c.950-5T= (n.950-5T=) | |
| 2 | g.206127977A>G | CA2496479155 | NDUFS1 | c.1709-5T>C (n.1709-5T>C) c.1538-5T>C (n.1538-5T>C) c.1376-5T>C (n.1376-5T>C) c.1601-5T>C (n.1601-5T>C) c.1751-5T>C (n.1751-5T>C) c.1361-5T>C (n.1361-5T>C) n.181-5T>C c.950-5T>C (n.950-5T>C) | ClinVar dbSNP gnomAD v4 |
| 2 | g.206127978C>G | CA2577221896 | NDUFS1 | c.1709-6G>C (n.1709-6G>C) c.1538-6G>C (n.1538-6G>C) c.1376-6G>C (n.1376-6G>C) c.1601-6G>C (n.1601-6G>C) c.1751-6G>C (n.1751-6G>C) c.1361-6G>C (n.1361-6G>C) n.181-6G>C c.950-6G>C (n.950-6G>C) | gnomAD v4 |
| 2 | g.206127978C>T | CA2662801073 | NDUFS1 | c.1709-6G>A (n.1709-6G>A) c.1538-6G>A (n.1538-6G>A) c.1376-6G>A (n.1376-6G>A) c.1601-6G>A (n.1601-6G>A) c.1751-6G>A (n.1751-6G>A) c.1361-6G>A (n.1361-6G>A) n.181-6G>A c.950-6G>A (n.950-6G>A) | dbSNP gnomAD v4 |
| 2 | g.206127979A>G | CA2662801075 | NDUFS1 | c.1709-7T>C (n.1709-7T>C) c.1538-7T>C (n.1538-7T>C) c.1376-7T>C (n.1376-7T>C) c.1601-7T>C (n.1601-7T>C) c.1751-7T>C (n.1751-7T>C) c.1361-7T>C (n.1361-7T>C) n.181-7T>C c.950-7T>C (n.950-7T>C) | gnomAD v4 |