Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.206122317C>A | CA430940587 | NDUFS1 | c.*1868G>T (n.*1868G>T) | |
2 | g.206122317C>G | CA430940589 | NDUFS1 | c.*1868G>C (n.*1868G>C) | |
2 | g.206122317C>T | CA430940590 | NDUFS1 | c.*1868G>A (n.*1868G>A) | |
2 | g.206122318C>A | CA430940592 | NDUFS1 | c.*1867G>T (n.*1867G>T) | gnomAD v4 |
2 | g.206122318C>G | CA430940595 | NDUFS1 | c.*1867G>C (n.*1867G>C) | |
2 | g.206122318C>T | CA430940604 | NDUFS1 | c.*1867G>A (n.*1867G>A) | |
2 | g.206122319T>A | CA430940606 | NDUFS1 | c.*1866A>T (n.*1866A>T) | |
2 | g.206122319T>C | CA430940609 | NDUFS1 | c.*1866A>G (n.*1866A>G) | gnomAD v4 |
2 | g.206122319T>G | CA430940610 | NDUFS1 | c.*1866A>C (n.*1866A>C) | |
2 | g.206122319_206122320insCCTCAGTGATACATCATGAAG | CA2540614666 | NDUFS1 | c.*1865_*1866insCTTCATGATGTATCACTGAGG (n.*1865_*1866insCTTCATGATGTATCACTGAGG) | |
2 | g.206122320T>A | CA430940617 | NDUFS1 | c.*1865A>T (n.*1865A>T) | |
2 | g.206122320T>C | CA430940613 | NDUFS1 | c.*1865A>G (n.*1865A>G) | dbSNP gnomAD v4 |
2 | g.206122320T>G | CA430940615 | NDUFS1 | c.*1865A>C (n.*1865A>C) | |
2 | g.206122320T= | CA2496476484 | NDUFS1 | c.*1865A= (n.*1865A=) | |
2 | g.206122321T>A | CA430940619 | NDUFS1 | c.*1864A>T (n.*1864A>T) | |
2 | g.206122321T>C | CA430940621 | NDUFS1 | c.*1864A>G (n.*1864A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206122321T>G | CA430940623 | NDUFS1 | c.*1864A>C (n.*1864A>C) | |
2 | g.206122321T= | CA2496476485 | NDUFS1 | c.*1864A= (n.*1864A=) | |
2 | g.206122322G>A | CA430940625 | NDUFS1 | c.*1863C>T (n.*1863C>T) | gnomAD v4 |
2 | g.206122322G>C | CA430940627 | NDUFS1 | c.*1863C>G (n.*1863C>G) | |
2 | g.206122322G>T | CA430940628 | NDUFS1 | c.*1863C>A (n.*1863C>A) | |
2 | g.206122323T>A | CA430940631 | NDUFS1 | c.*1862A>T (n.*1862A>T) | |
2 | g.206122323T>C | CA430940632 | NDUFS1 | c.*1862A>G (n.*1862A>G) | dbSNP |
2 | g.206122323T>G | CA63644760 | NDUFS1 | c.*1862A>C (n.*1862A>C) | dbSNP |
2 | g.206122323T= | CA2496476486 | NDUFS1 | c.*1862A= (n.*1862A=) | |
2 | g.206122324T>C | CA63644761 | NDUFS1 | c.*1861A>G (n.*1861A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122324T= | CA2496476487 | NDUFS1 | c.*1861A= (n.*1861A=) | |
2 | g.206122325G>T | CA2662802262 | NDUFS1 | c.*1860C>A (n.*1860C>A) | gnomAD v4 |
2 | g.206122327A= | CA2496476488 | NDUFS1 | c.*1858T= (n.*1858T=) | |
2 | g.206122327A>G | CA2496476489 | NDUFS1 | c.*1858T>C (n.*1858T>C) | dbSNP |
2 | g.206122328T>G | CA1041604157 | NDUFS1 | c.*1857A>C (n.*1857A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122328T= | CA2496476490 | NDUFS1 | c.*1857A= (n.*1857A=) | |
2 | g.206122329C>A | CA2662802263 | NDUFS1 | c.*1856G>T (n.*1856G>T) | gnomAD v4 |
2 | g.206122329C>T | CA2662802264 | NDUFS1 | c.*1856G>A (n.*1856G>A) | gnomAD v4 |
2 | g.206122330A>G | CA2662802265 | NDUFS1 | c.*1855T>C (n.*1855T>C) | gnomAD v4 |
2 | g.206122331G>T | CA2662802266 | NDUFS1 | c.*1854C>A (n.*1854C>A) | gnomAD v4 |
2 | g.206122334A>G | CA2662802267 | NDUFS1 | c.*1851T>C (n.*1851T>C) | gnomAD v4 |
2 | g.206122337C>A | CA2662802269 | NDUFS1 | c.*1848G>T (n.*1848G>T) | gnomAD v4 |
2 | g.206122337C= | CA2496476491 | NDUFS1 | c.*1848G= (n.*1848G=) | |
2 | g.206122337C>T | CA63644762 | NDUFS1 | c.*1848G>A (n.*1848G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206122338G>A | CA63644763 | NDUFS1 | c.*1847C>T (n.*1847C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122338G= | CA2496476492 | NDUFS1 | c.*1847C= (n.*1847C=) | |
2 | g.206122338G>T | CA763786824 | NDUFS1 | c.*1847C>A (n.*1847C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122340C>A | CA2662802271 | NDUFS1 | c.*1845G>T (n.*1845G>T) | gnomAD v4 |
2 | g.206122343C>A | CA2662802273 | NDUFS1 | c.*1842G>T (n.*1842G>T) | gnomAD v4 |
2 | g.206122343C= | CA2496476493 | NDUFS1 | c.*1842G= (n.*1842G=) | |
2 | g.206122343C>T | CA2496476494 | NDUFS1 | c.*1842G>A (n.*1842G>A) | dbSNP |
2 | g.206122344C>A | CA2662802274 | NDUFS1 | c.*1841G>T (n.*1841G>T) | gnomAD v4 |
2 | g.206122344C= | CA2496476495 | NDUFS1 | c.*1841G= (n.*1841G=) | |
2 | g.206122344C>T | CA763786825 | NDUFS1 | c.*1841G>A (n.*1841G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122345T>C | CA2662802275 | NDUFS1 | c.*1840A>G (n.*1840A>G) | gnomAD v4 |
2 | g.206122346A>G | CA2662802276 | NDUFS1 | c.*1839T>C (n.*1839T>C) | gnomAD v4 |
2 | g.206122347G>T | CA2662802277 | NDUFS1 | c.*1838C>A (n.*1838C>A) | gnomAD v4 |
2 | g.206122348A>G | CA2753996560 | NDUFS1 | c.*1837T>C (n.*1837T>C) | |
2 | g.206122349C>A | CA2662802278 | NDUFS1 | c.*1836G>T (n.*1836G>T) | gnomAD v4 |
2 | g.206122349C>G | CA2662802279 | NDUFS1 | c.*1836G>C (n.*1836G>C) | gnomAD v4 |
2 | g.206122350T>C | CA2662802280 | NDUFS1 | c.*1835A>G (n.*1835A>G) | gnomAD v4 |
2 | g.206122351G>A | CA1041604169 | NDUFS1 | c.*1834C>T (n.*1834C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122351G= | CA2496476496 | NDUFS1 | c.*1834C= (n.*1834C=) | |
2 | g.206122352G>T | CA2662802281 | NDUFS1 | c.*1833C>A (n.*1833C>A) | gnomAD v4 |
2 | g.206122353G>A | CA1041604175 | NDUFS1 | c.*1832C>T (n.*1832C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122353G= | CA2496476497 | NDUFS1 | c.*1832C= (n.*1832C=) | |
2 | g.206122353G>T | CA2662802283 | NDUFS1 | c.*1832C>A (n.*1832C>A) | gnomAD v4 |
2 | g.206122354C>A | CA763786834 | NDUFS1 | c.*1831G>T (n.*1831G>T) | dbSNP gnomAD v4 |
2 | g.206122354C= | CA2496476498 | NDUFS1 | c.*1831G= (n.*1831G=) | |
2 | g.206122354C>T | CA63644766 | NDUFS1 | c.*1831G>A (n.*1831G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122355G>A | CA63644771 | NDUFS1 | c.*1830C>T (n.*1830C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206122355G= | CA2496476499 | NDUFS1 | c.*1830C= (n.*1830C=) | |
2 | g.206122355G>T | CA2662802286 | NDUFS1 | c.*1830C>A (n.*1830C>A) | gnomAD v4 |
2 | g.206122356C= | CA2496476500 | NDUFS1 | c.*1829G= (n.*1829G=) | |
2 | g.206122356C>T | CA539388344 | NDUFS1 | c.*1829G>A (n.*1829G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206122357G>A | CA539388345 | NDUFS1 | c.*1828C>T (n.*1828C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206122357G>C | CA763786843 | NDUFS1 | c.*1828C>G (n.*1828C>G) | dbSNP |
2 | g.206122357G= | CA2496476501 | NDUFS1 | c.*1828C= (n.*1828C=) | |
2 | g.206122357G>T | CA2662802291 | NDUFS1 | c.*1828C>A (n.*1828C>A) | gnomAD v4 |
2 | g.206122358G>A | CA2662802293 | NDUFS1 | c.*1827C>T (n.*1827C>T) | gnomAD v4 |
2 | g.206122361G>A | CA2662802294 | NDUFS1 | c.*1824C>T (n.*1824C>T) | gnomAD v4 |
2 | g.206122362C>T | CA2662802295 | NDUFS1 | c.*1823G>A (n.*1823G>A) | gnomAD v4 |
2 | g.206122363T>C | CA2662802296 | NDUFS1 | c.*1822A>G (n.*1822A>G) | gnomAD v4 |
2 | g.206122365A>G | CA2662802297 | NDUFS1 | c.*1820T>C (n.*1820T>C) | gnomAD v4 |
2 | g.206122366C= | CA2496476502 | NDUFS1 | c.*1819G= (n.*1819G=) | |
2 | g.206122366C>T | CA539388346 | NDUFS1 | c.*1819G>A (n.*1819G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206122367G>A | CA763786853 | NDUFS1 | c.*1818C>T (n.*1818C>T) | dbSNP gnomAD v4 |
2 | g.206122367G= | CA2496476503 | NDUFS1 | c.*1818C= (n.*1818C=) | |
2 | g.206122367G>T | CA2662802300 | NDUFS1 | c.*1818C>A (n.*1818C>A) | gnomAD v4 |
2 | g.206122368C>T | CA2662802302 | NDUFS1 | c.*1817G>A (n.*1817G>A) | gnomAD v4 |
2 | g.206122369C>A | CA2662802303 | NDUFS1 | c.*1816G>T (n.*1816G>T) | gnomAD v4 |
2 | g.206122370T>C | CA2662802304 | NDUFS1 | c.*1815A>G (n.*1815A>G) | gnomAD v4 |
2 | g.206122371G>A | CA539054629 | NDUFS1 | c.*1814C>T (n.*1814C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206122371G= | CA2496476504 | NDUFS1 | c.*1814C= (n.*1814C=) | |
2 | g.206122371G>T | CA2662802305 | NDUFS1 | c.*1814C>A (n.*1814C>A) | gnomAD v4 |
2 | g.206122373A>G | CA2662802307 | NDUFS1 | c.*1812T>C (n.*1812T>C) | gnomAD v4 |
2 | g.206122374dup | CA539054630 | NDUFS1 | c.*1812dup (n.*1812dup) | gnomAD v2 |
2 | g.206122375T>G | CA2662802309 | NDUFS1 | c.*1810A>C (n.*1810A>C) | gnomAD v4 |
2 | g.206122377C>A | CA2662802311 | NDUFS1 | c.*1808G>T (n.*1808G>T) | gnomAD v4 |
2 | g.206122378C>A | CA2662802313 | NDUFS1 | c.*1807G>T (n.*1807G>T) | gnomAD v4 |
2 | g.206122378C= | CA2496476505 | NDUFS1 | c.*1807G= (n.*1807G=) | |
2 | g.206122378C>T | CA63644790 | NDUFS1 | c.*1807G>A (n.*1807G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206122379A>G | CA2662802314 | NDUFS1 | c.*1806T>C (n.*1806T>C) | gnomAD v4 |
2 | g.206122380G>A | CA2496476507 | NDUFS1 | c.*1805C>T (n.*1805C>T) | dbSNP gnomAD v4 |
2 | g.206122380G= | CA2496476506 | NDUFS1 | c.*1805C= (n.*1805C=) | |
2 | g.206122381C>A | CA2662802316 | NDUFS1 | c.*1804G>T (n.*1804G>T) | gnomAD v4 |
2 | g.206122381C>T | CA2662802317 | NDUFS1 | c.*1804G>A (n.*1804G>A) | gnomAD v4 |
2 | g.206122382A= | CA2496476508 | NDUFS1 | c.*1803T= (n.*1803T=) | |
2 | g.206122382A>T | CA763786855 | NDUFS1 | c.*1803T>A (n.*1803T>A) | dbSNP |
2 | g.206122383C>T | CA2662802318 | NDUFS1 | c.*1802G>A (n.*1802G>A) | gnomAD v4 |
2 | g.206122384T>C | CA2662802319 | NDUFS1 | c.*1801A>G (n.*1801A>G) | gnomAD v4 |
2 | g.206122385T>C | CA2536887265 | NDUFS1 | c.*1800A>G (n.*1800A>G) | gnomAD v4 |
2 | g.206122385T>G | CA63644800 | NDUFS1 | c.*1800A>C (n.*1800A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206122385T= | CA2496476509 | NDUFS1 | c.*1800A= (n.*1800A=) | |
2 | g.206122386T>A | CA2662802320 | NDUFS1 | c.*1799A>T (n.*1799A>T) | gnomAD v4 |
2 | g.206122386T>C | CA63644804 | NDUFS1 | c.*1799A>G (n.*1799A>G) | dbSNP |
2 | g.206122386T= | CA2496476510 | NDUFS1 | c.*1799A= (n.*1799A=) | |
2 | g.206122387G>T | CA2662802324 | NDUFS1 | c.*1798C>A (n.*1798C>A) | gnomAD v4 |
2 | g.206122389del | CA2662802323 | NDUFS1 | c.*1798del (n.*1798del) | gnomAD v4 |
2 | g.206122388G>C | CA1041604186 | NDUFS1 | c.*1797C>G (n.*1797C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122388G= | CA2496476511 | NDUFS1 | c.*1797C= (n.*1797C=) | |
2 | g.206122388G>T | CA2662802325 | NDUFS1 | c.*1797C>A (n.*1797C>A) | gnomAD v4 |
2 | g.206122389G>A | CA763786860 | NDUFS1 | c.*1796C>T (n.*1796C>T) | dbSNP |
2 | g.206122389G= | CA2496476512 | NDUFS1 | c.*1796C= (n.*1796C=) | |
2 | g.206122389G>T | CA2662802326 | NDUFS1 | c.*1796C>A (n.*1796C>A) | gnomAD v4 |
2 | g.206122390A>G | CA2662802328 | NDUFS1 | c.*1795T>C (n.*1795T>C) | gnomAD v4 |
2 | g.206122391G>A | CA2662802330 | NDUFS1 | c.*1794C>T (n.*1794C>T) | gnomAD v4 |
2 | g.206122391G>T | CA2662802331 | NDUFS1 | c.*1794C>A (n.*1794C>A) | gnomAD v4 |
2 | g.206122392G>A | CA63644806 | NDUFS1 | c.*1793C>T (n.*1793C>T) | dbSNP gnomAD v4 |
2 | g.206122392G= | CA2496476513 | NDUFS1 | c.*1793C= (n.*1793C=) | |
2 | g.206122392G>T | CA2662802332 | NDUFS1 | c.*1793C>A (n.*1793C>A) | gnomAD v4 |
2 | g.206122393C>A | CA2753996568 | NDUFS1 | c.*1792G>T (n.*1792G>T) | |
2 | g.206122393C>T | CA2662802334 | NDUFS1 | c.*1792G>A (n.*1792G>A) | gnomAD v4 |
2 | g.206122394C>A | CA2520010475 | NDUFS1 | c.*1791G>T (n.*1791G>T) | gnomAD v4 |
2 | g.206122394C>T | CA2662802335 | NDUFS1 | c.*1791G>A (n.*1791G>A) | gnomAD v4 |
2 | g.206122395A>G | CA2662802336 | NDUFS1 | c.*1790T>C (n.*1790T>C) | gnomAD v4 |
2 | g.206122396A= | CA2496476515 | NDUFS1 | c.*1789T= (n.*1789T=) | |
2 | g.206122396A>C | CA2496476514 | NDUFS1 | c.*1789T>G (n.*1789T>G) | dbSNP |
2 | g.206122396A>G | CA63644808 | NDUFS1 | c.*1789T>C (n.*1789T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206122396A>T | CA2662802337 | NDUFS1 | c.*1789T>A (n.*1789T>A) | gnomAD v4 |
2 | g.206122397G>T | CA2662802338 | NDUFS1 | c.*1788C>A (n.*1788C>A) | gnomAD v4 |
2 | g.206122398G>T | CA2662802339 | NDUFS1 | c.*1787C>A (n.*1787C>A) | gnomAD v4 |
2 | g.206122399C>A | CA63644813 | NDUFS1 | c.*1786G>T (n.*1786G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122399C= | CA2496476516 | NDUFS1 | c.*1786G= (n.*1786G=) | |
2 | g.206122399C>T | CA2662802340 | NDUFS1 | c.*1786G>A (n.*1786G>A) | gnomAD v4 |
2 | g.206122400A>G | CA2521142047 | NDUFS1 | c.*1785T>C (n.*1785T>C) | gnomAD v4 |
2 | g.206122401G>A | CA2662802342 | NDUFS1 | c.*1784C>T (n.*1784C>T) | gnomAD v4 |
2 | g.206122401G>T | CA2662802343 | NDUFS1 | c.*1784C>A (n.*1784C>A) | gnomAD v4 |
2 | g.206122402G>A | CA2496476518 | NDUFS1 | c.*1783C>T (n.*1783C>T) | dbSNP |
2 | g.206122402G= | CA2496476517 | NDUFS1 | c.*1783C= (n.*1783C=) | |
2 | g.206122402G>T | CA2662802344 | NDUFS1 | c.*1783C>A (n.*1783C>A) | gnomAD v4 |
2 | g.206122403T>A | CA2662802346 | NDUFS1 | c.*1782A>T (n.*1782A>T) | gnomAD v4 |
2 | g.206122403T>C | CA2496476520 | NDUFS1 | c.*1782A>G (n.*1782A>G) | dbSNP gnomAD v4 |
2 | g.206122403T= | CA2496476519 | NDUFS1 | c.*1782A= (n.*1782A=) | |
2 | g.206122404A>G | CA2662802348 | NDUFS1 | c.*1781T>C (n.*1781T>C) | gnomAD v4 |
2 | g.206122405G>T | CA2662802349 | NDUFS1 | c.*1780C>A (n.*1780C>A) | gnomAD v4 |
2 | g.206122406A= | CA2496476521 | NDUFS1 | c.*1779T= (n.*1779T=) | |
2 | g.206122406A>G | CA2662802351 | NDUFS1 | c.*1779T>C (n.*1779T>C) | gnomAD v4 |
2 | g.206122406A>T | CA1041604189 | NDUFS1 | c.*1779T>A (n.*1779T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122407T>C | CA2662802352 | NDUFS1 | c.*1778A>G (n.*1778A>G) | gnomAD v4 |
2 | g.206122408C>A | CA763786868 | NDUFS1 | c.*1777G>T (n.*1777G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122408C= | CA2496476522 | NDUFS1 | c.*1777G= (n.*1777G=) | |
2 | g.206122410C>A | CA2496476524 | NDUFS1 | c.*1775G>T (n.*1775G>T) | dbSNP |
2 | g.206122410C= | CA2496476523 | NDUFS1 | c.*1775G= (n.*1775G=) | |
2 | g.206122410C>G | CA2662802355 | NDUFS1 | c.*1775G>C (n.*1775G>C) | gnomAD v4 |
2 | g.206122411C>T | CA2662802356 | NDUFS1 | c.*1774G>A (n.*1774G>A) | gnomAD v4 |
2 | g.206122412T>C | CA2662802357 | NDUFS1 | c.*1773A>G (n.*1773A>G) | gnomAD v4 |
2 | g.206122414A>G | CA2662802358 | NDUFS1 | c.*1771T>C (n.*1771T>C) | gnomAD v4 |
2 | g.206122415G>A | CA1041604190 | NDUFS1 | c.*1770C>T (n.*1770C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122415G= | CA2496476525 | NDUFS1 | c.*1770C= (n.*1770C=) | |
2 | g.206122415G>T | CA63644826 | NDUFS1 | c.*1770C>A (n.*1770C>A) | dbSNP |
2 | g.206122416G>A | CA1041604191 | NDUFS1 | c.*1769C>T (n.*1769C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122416G= | CA2496476526 | NDUFS1 | c.*1769C= (n.*1769C=) | |
2 | g.206122416G>T | CA2607285496 | NDUFS1 | c.*1769C>A (n.*1769C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206122417T>C | CA2496476528 | NDUFS1 | c.*1768A>G (n.*1768A>G) | dbSNP gnomAD v4 |
2 | g.206122417T= | CA2496476527 | NDUFS1 | c.*1768A= (n.*1768A=) |