Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.26480251T>A | CA346131902 | OTOF | c.1864A>T (p.Ile622Phe) c.1909A>T (p.Ile637Phe) | dbSNP gnomAD v4 |
2 | g.26480251T>C | CA346131904 | OTOF | c.1864A>G (p.Ile622Val) c.1909A>G (p.Ile637Val) | dbSNP gnomAD v4 |
2 | g.26480251T>G | CA346131908 | OTOF | c.1864A>C (p.Ile622Leu) c.1909A>C (p.Ile637Leu) | |
2 | g.26480251T= | CA1239827191 | OTOF | c.1864A= (p.Ile622=) c.1909A= (p.Ile637=) | |
2 | g.26480252C>A | CA346131910 | OTOF | c.1863G>T (p.Met621Ile) c.1908G>T (p.Met636Ile) | |
2 | g.26480252C>G | CA346131912 | OTOF | c.1863G>C (p.Met621Ile) c.1908G>C (p.Met636Ile) | |
2 | g.26480252C>T | CA346131914 | OTOF | c.1863G>A (p.Met621Ile) c.1908G>A (p.Met636Ile) | |
2 | g.26480253A= | CA1239827193 | OTOF | c.1862T= (p.Met621=) c.1907T= (p.Met636=) | |
2 | g.26480253A>C | CA346131917 | OTOF | c.1862T>G (p.Met621Arg) c.1907T>G (p.Met636Arg) | |
2 | g.26480253A>G | CA346131922 | OTOF | c.1862T>C (p.Met621Thr) c.1907T>C (p.Met636Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480253A>T | CA346131921 | OTOF | c.1862T>A (p.Met621Lys) c.1907T>A (p.Met636Lys) | |
2 | g.26480254T>A | CA346131923 | OTOF | c.1861A>T (p.Met621Leu) c.1906A>T (p.Met636Leu) | |
2 | g.26480254T>C | CA1564159 | OTOF | c.1861A>G (p.Met621Val) c.1906A>G (p.Met636Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480254T>G | CA346131925 | OTOF | c.1861A>C (p.Met621Leu) c.1906A>C (p.Met636Leu) | |
2 | g.26480254T= | CA1239827196 | OTOF | c.1861A= (p.Met621=) c.1906A= (p.Met636=) | |
2 | g.26480255T>A | CA425205540 | OTOF | c.1860A>T (p.Ser620=) c.1905A>T (p.Ser635=) | |
2 | g.26480255T>C | CA425205541 | OTOF | c.1860A>G (p.Ser620=) c.1905A>G (p.Ser635=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480255T>G | CA425205542 | OTOF | c.1860A>C (p.Ser620=) c.1905A>C (p.Ser635=) | |
2 | g.26480255T= | CA1239827198 | OTOF | c.1860A= (p.Ser620=) c.1905A= (p.Ser635=) | |
2 | g.26480256G>A | CA346131930 | OTOF | c.1859C>T (p.Ser620Leu) c.1904C>T (p.Ser635Leu) | gnomAD v4 |
2 | g.26480256G>C | CA346131934 | OTOF | c.1859C>G (p.Ser620Ter) c.1904C>G (p.Ser635Ter) | gnomAD v4 |
2 | g.26480256G>T | CA346131938 | OTOF | c.1859C>A (p.Ser620Ter) c.1904C>A (p.Ser635Ter) | |
2 | g.26480257A>C | CA346131941 | OTOF | c.1858T>G (p.Ser620Ala) c.1903T>G (p.Ser635Ala) | |
2 | g.26480257A>G | CA346131945 | OTOF | c.1858T>C (p.Ser620Pro) c.1903T>C (p.Ser635Pro) | gnomAD v4 |
2 | g.26480257A>T | CA346131948 | OTOF | c.1858T>A (p.Ser620Thr) c.1903T>A (p.Ser635Thr) | |
2 | g.26480258G>A | CA425205543 | OTOF | c.1857C>T (p.Ala619=) c.1902C>T (p.Ala634=) | |
2 | g.26480258G>C | CA425205544 | OTOF | c.1857C>G (p.Ala619=) c.1902C>G (p.Ala634=) | |
2 | g.26480258G>T | CA425205545 | OTOF | c.1857C>A (p.Ala619=) c.1902C>A (p.Ala634=) | |
2 | g.26480259G>A | CA346131952 | OTOF | c.1856C>T (p.Ala619Val) c.1901C>T (p.Ala634Val) | gnomAD v4 |
2 | g.26480259G>C | CA346131956 | OTOF | c.1856C>G (p.Ala619Gly) c.1901C>G (p.Ala634Gly) | |
2 | g.26480259G>T | CA346131960 | OTOF | c.1856C>A (p.Ala619Asp) c.1901C>A (p.Ala634Asp) | |
2 | g.26480260C>A | CA346131968 | OTOF | c.1855G>T (p.Ala619Ser) c.1900G>T (p.Ala634Ser) | |
2 | g.26480260C= | CA1239827201 | OTOF | c.1855G= (p.Ala619=) c.1900G= (p.Ala634=) | |
2 | g.26480260C>G | CA346131972 | OTOF | c.1855G>C (p.Ala619Pro) c.1900G>C (p.Ala634Pro) | |
2 | g.26480260C>T | CA1564160 | OTOF | c.1855G>A (p.Ala619Thr) c.1900G>A (p.Ala634Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480261C>A | CA346131978 | OTOF | c.1854G>T (p.Glu618Asp) c.1899G>T (p.Glu633Asp) | |
2 | g.26480261C>G | CA346131975 | OTOF | c.1854G>C (p.Glu618Asp) c.1899G>C (p.Glu633Asp) | |
2 | g.26480261C>T | CA425205546 | OTOF | c.1854G>A (p.Glu618=) c.1899G>A (p.Glu633=) | gnomAD v4 |
2 | g.26480262T>A | CA346131984 | OTOF | c.1853A>T (p.Glu618Val) c.1898A>T (p.Glu633Val) | |
2 | g.26480262T>C | CA346131987 | OTOF | c.1853A>G (p.Glu618Gly) c.1898A>G (p.Glu633Gly) | |
2 | g.26480262T>G | CA346131990 | OTOF | c.1853A>C (p.Glu618Ala) c.1898A>C (p.Glu633Ala) | gnomAD v4 |
2 | g.26480263C>A | CA346131996 | OTOF | c.1852G>T (p.Glu618Ter) c.1897G>T (p.Glu633Ter) | |
2 | g.26480263C>G | CA346131999 | OTOF | c.1852G>C (p.Glu618Gln) c.1897G>C (p.Glu633Gln) | |
2 | g.26480263C>T | CA346132001 | OTOF | c.1852G>A (p.Glu618Lys) c.1897G>A (p.Glu633Lys) | gnomAD v4 |
2 | g.26480264C>A | CA425205547 | OTOF | c.1851G>T (p.Leu617=) c.1896G>T (p.Leu632=) | |
2 | g.26480264C= | CA1239827203 | OTOF | c.1851G= (p.Leu617=) c.1896G= (p.Leu632=) | |
2 | g.26480264C>G | CA425205548 | OTOF | c.1851G>C (p.Leu617=) c.1896G>C (p.Leu632=) | |
2 | g.26480264C>T | CA44400810 | OTOF | c.1851G>A (p.Leu617=) c.1896G>A (p.Leu632=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480265A>C | CA346132005 | OTOF | c.1850T>G (p.Leu617Arg) c.1895T>G (p.Leu632Arg) | |
2 | g.26480265A>G | CA346132014 | OTOF | c.1850T>C (p.Leu617Pro) c.1895T>C (p.Leu632Pro) | |
2 | g.26480265A>T | CA346132011 | OTOF | c.1850T>A (p.Leu617Gln) c.1895T>A (p.Leu632Gln) | |
2 | g.26480266G>A | CA425205549 | OTOF | c.1849C>T (p.Leu617=) c.1894C>T (p.Leu632=) | |
2 | g.26480266G>C | CA346132018 | OTOF | c.1849C>G (p.Leu617Val) c.1894C>G (p.Leu632Val) | |
2 | g.26480266G>T | CA346132022 | OTOF | c.1849C>A (p.Leu617Met) c.1894C>A (p.Leu632Met) | |
2 | g.26480267G>A | CA425205550 | OTOF | c.1848C>T (p.Phe616=) c.1893C>T (p.Phe631=) | |
2 | g.26480267G>C | CA346132029 | OTOF | c.1848C>G (p.Phe616Leu) c.1893C>G (p.Phe631Leu) | |
2 | g.26480267G>T | CA346132033 | OTOF | c.1848C>A (p.Phe616Leu) c.1893C>A (p.Phe631Leu) | gnomAD v4 |
2 | g.26480268A>C | CA346132038 | OTOF | c.1847T>G (p.Phe616Cys) c.1892T>G (p.Phe631Cys) | |
2 | g.26480268A>G | CA346132050 | OTOF | c.1847T>C (p.Phe616Ser) c.1892T>C (p.Phe631Ser) | |
2 | g.26480268A>T | CA346132041 | OTOF | c.1847T>A (p.Phe616Tyr) c.1892T>A (p.Phe631Tyr) | |
2 | g.26480269A>C | CA346132053 | OTOF | c.1846T>G (p.Phe616Val) c.1891T>G (p.Phe631Val) | |
2 | g.26480269A>G | CA346132056 | OTOF | c.1846T>C (p.Phe616Leu) c.1891T>C (p.Phe631Leu) | |
2 | g.26480269A>T | CA346132057 | OTOF | c.1846T>A (p.Phe616Ile) c.1891T>A (p.Phe631Ile) | |
2 | g.26480270G>A | CA425205551 | OTOF | c.1845C>T (p.Ala615=) c.1890C>T (p.Ala630=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480270G>C | CA425205552 | OTOF | c.1845C>G (p.Ala615=) c.1890C>G (p.Ala630=) | |
2 | g.26480270G= | CA1239827204 | OTOF | c.1845C= (p.Ala615=) c.1890C= (p.Ala630=) | |
2 | g.26480270G>T | CA425205553 | OTOF | c.1845C>A (p.Ala615=) c.1890C>A (p.Ala630=) | gnomAD v4 |
2 | g.26480271G>A | CA346132058 | OTOF | c.1844C>T (p.Ala615Val) c.1889C>T (p.Ala630Val) | |
2 | g.26480271G>C | CA1564161 | OTOF | c.1844C>G (p.Ala615Gly) c.1889C>G (p.Ala630Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480271G= | CA1239827206 | OTOF | c.1844C= (p.Ala615=) c.1889C= (p.Ala630=) | |
2 | g.26480271G>T | CA346132060 | OTOF | c.1844C>A (p.Ala615Asp) c.1889C>A (p.Ala630Asp) | gnomAD v4 |
2 | g.26480272C>A | CA346132070 | OTOF | c.1843G>T (p.Ala615Ser) c.1888G>T (p.Ala630Ser) | |
2 | g.26480272C>G | CA346132072 | OTOF | c.1843G>C (p.Ala615Pro) c.1888G>C (p.Ala630Pro) | |
2 | g.26480272C>T | CA346132076 | OTOF | c.1843G>A (p.Ala615Thr) c.1888G>A (p.Ala630Thr) | |
2 | g.26480273T>A | CA425205554 | OTOF | c.1842A>T (p.Gly614=) c.1887A>T (p.Gly629=) | |
2 | g.26480273T>C | CA425205556 | OTOF | c.1842A>G (p.Gly614=) c.1887A>G (p.Gly629=) | dbSNP gnomAD v2 |
2 | g.26480273T>G | CA425205555 | OTOF | c.1842A>C (p.Gly614=) c.1887A>C (p.Gly629=) | |
2 | g.26480273T= | CA1239827207 | OTOF | c.1842A= (p.Gly614=) c.1887A= (p.Gly629=) | |
2 | g.26480274C>A | CA346132081 | OTOF | c.1841G>T (p.Gly614Val) c.1886G>T (p.Gly629Val) | |
2 | g.26480274C= | CA1239827211 | OTOF | c.1841G= (p.Gly614=) c.1886G= (p.Gly629=) | |
2 | g.26480274C>G | CA346132083 | OTOF | c.1841G>C (p.Gly614Ala) c.1886G>C (p.Gly629Ala) | |
2 | g.26480274C>T | CA345098 | OTOF | c.1841G>A (p.Gly614Glu) c.1886G>A (p.Gly629Glu) | ClinVar dbSNP |
2 | g.26480275C>A | CA346132090 | OTOF | c.1840G>T (p.Gly614Ter) c.1885G>T (p.Gly629Ter) | |
2 | g.26480275C>G | CA346132094 | OTOF | c.1840G>C (p.Gly614Arg) c.1885G>C (p.Gly629Arg) | |
2 | g.26480275C>T | CA346132093 | OTOF | c.1840G>A (p.Gly614Arg) c.1885G>A (p.Gly629Arg) | |
2 | g.26480276A>C | CA346132100 | OTOF | c.1839T>G (p.Phe613Leu) c.1884T>G (p.Phe628Leu) | |
2 | g.26480276A>G | CA425205557 | OTOF | c.1839T>C (p.Phe613=) c.1884T>C (p.Phe628=) | |
2 | g.26480276A>T | CA346132105 | OTOF | c.1839T>A (p.Phe613Leu) c.1884T>A (p.Phe628Leu) | |
2 | g.26480277A>C | CA346132111 | OTOF | c.1838T>G (p.Phe613Cys) c.1883T>G (p.Phe628Cys) | gnomAD v4 |
2 | g.26480277A>G | CA346132114 | OTOF | c.1838T>C (p.Phe613Ser) c.1883T>C (p.Phe628Ser) | |
2 | g.26480277A>T | CA346132125 | OTOF | c.1838T>A (p.Phe613Tyr) c.1883T>A (p.Phe628Tyr) | |
2 | g.26480278A>C | CA346132130 | OTOF | c.1837T>G (p.Phe613Val) c.1882T>G (p.Phe628Val) | |
2 | g.26480278A>G | CA346132133 | OTOF | c.1837T>C (p.Phe613Leu) c.1882T>C (p.Phe628Leu) | |
2 | g.26480278A>T | CA346132137 | OTOF | c.1837T>A (p.Phe613Ile) c.1882T>A (p.Phe628Ile) | |
2 | g.26480279G>A | CA425205558 | OTOF | c.1836C>T (p.Leu612=) c.1881C>T (p.Leu627=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.26480279G>C | CA425205559 | OTOF | c.1836C>G (p.Leu612=) c.1881C>G (p.Leu627=) | dbSNP |
2 | g.26480279G= | CA1239827214 | OTOF | c.1836C= (p.Leu612=) c.1881C= (p.Leu627=) | |
2 | g.26480279G>T | CA425205560 | OTOF | c.1836C>A (p.Leu612=) c.1881C>A (p.Leu627=) | |
2 | g.26480280A= | CA1239827216 | OTOF | c.1835T= (p.Leu612=) c.1880T= (p.Leu627=) | |
2 | g.26480280A>C | CA346132140 | OTOF | c.1835T>G (p.Leu612Arg) c.1880T>G (p.Leu627Arg) | |
2 | g.26480280A>G | CA346132143 | OTOF | c.1835T>C (p.Leu612Pro) c.1880T>C (p.Leu627Pro) | dbSNP gnomAD v2 |
2 | g.26480280A>T | CA346132146 | OTOF | c.1835T>A (p.Leu612His) c.1880T>A (p.Leu627His) | |
2 | g.26480281G>A | CA346132157 | OTOF | c.1834C>T (p.Leu612Phe) c.1879C>T (p.Leu627Phe) | COSMIC |
2 | g.26480281G>C | CA346132154 | OTOF | c.1834C>G (p.Leu612Val) c.1879C>G (p.Leu627Val) | gnomAD v4 |
2 | g.26480281G>T | CA346132152 | OTOF | c.1834C>A (p.Leu612Ile) c.1879C>A (p.Leu627Ile) | gnomAD v4 |
2 | g.26480282A>C | CA346132162 | OTOF | c.1833T>G (p.Phe611Leu) c.1878T>G (p.Phe626Leu) | |
2 | g.26480282A>G | CA425205561 | OTOF | c.1833T>C (p.Phe611=) c.1878T>C (p.Phe626=) | |
2 | g.26480282A>T | CA346132164 | OTOF | c.1833T>A (p.Phe611Leu) c.1878T>A (p.Phe626Leu) | |
2 | g.26480283A= | CA1239827218 | OTOF | c.1832T= (p.Phe611=) c.1877T= (p.Phe626=) | |
2 | g.26480283A>C | CA346132173 | OTOF | c.1832T>G (p.Phe611Cys) c.1877T>G (p.Phe626Cys) | |
2 | g.26480283A>G | CA346132176 | OTOF | c.1832T>C (p.Phe611Ser) c.1877T>C (p.Phe626Ser) | |
2 | g.26480283A>T | CA1564162 | OTOF | c.1832T>A (p.Phe611Tyr) c.1877T>A (p.Phe626Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480284A>C | CA346132184 | OTOF | c.1831T>G (p.Phe611Val) c.1876T>G (p.Phe626Val) | |
2 | g.26480284A>G | CA346132187 | OTOF | c.1831T>C (p.Phe611Leu) c.1876T>C (p.Phe626Leu) | |
2 | g.26480284A>T | CA346132192 | OTOF | c.1831T>A (p.Phe611Ile) c.1876T>A (p.Phe626Ile) | |
2 | g.26480285G>A | CA425205562 | OTOF | c.1830C>T (p.Phe610=) c.1875C>T (p.Phe625=) | |
2 | g.26480285G>C | CA346132195 | OTOF | c.1830C>G (p.Phe610Leu) c.1875C>G (p.Phe625Leu) | |
2 | g.26480285G>T | CA346132198 | OTOF | c.1830C>A (p.Phe610Leu) c.1875C>A (p.Phe625Leu) | gnomAD v4 COSMIC |
2 | g.26480286A= | CA1239827221 | OTOF | c.1829T= (p.Phe610=) c.1874T= (p.Phe625=) | |
2 | g.26480286A>C | CA346132203 | OTOF | c.1829T>G (p.Phe610Cys) c.1874T>G (p.Phe625Cys) | |
2 | g.26480286A>G | CA346132206 | OTOF | c.1829T>C (p.Phe610Ser) c.1874T>C (p.Phe625Ser) | |
2 | g.26480286A>T | CA346132210 | OTOF | c.1829T>A (p.Phe610Tyr) c.1874T>A (p.Phe625Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480287del | CA2586968844 | OTOF | c.1829del (p.Phe610SerfsTer12) c.1874del (p.Phe625SerfsTer12) | |
2 | g.26480287A>C | CA346132216 | OTOF | c.1828T>G (p.Phe610Val) c.1873T>G (p.Phe625Val) | |
2 | g.26480287A>G | CA346132217 | OTOF | c.1828T>C (p.Phe610Leu) c.1873T>C (p.Phe625Leu) | gnomAD v4 |
2 | g.26480287A>T | CA346132213 | OTOF | c.1828T>A (p.Phe610Ile) c.1873T>A (p.Phe625Ile) | |
2 | g.26480288T>A | CA346132223 | OTOF | c.1827A>T (p.Glu609Asp) c.1872A>T (p.Glu624Asp) | |
2 | g.26480288T>C | CA425205563 | OTOF | c.1827A>G (p.Glu609=) c.1872A>G (p.Glu624=) | |
2 | g.26480288T>G | CA346132219 | OTOF | c.1827A>C (p.Glu609Asp) c.1872A>C (p.Glu624Asp) | COSMIC |
2 | g.26480289T>A | CA346132227 | OTOF | c.1826A>T (p.Glu609Val) c.1871A>T (p.Glu624Val) | |
2 | g.26480289T>C | CA346132228 | OTOF | c.1826A>G (p.Glu609Gly) c.1871A>G (p.Glu624Gly) | |
2 | g.26480289T>G | CA346132229 | OTOF | c.1826A>C (p.Glu609Ala) c.1871A>C (p.Glu624Ala) | dbSNP gnomAD v4 |
2 | g.26480290C>A | CA346132231 | OTOF | c.1825G>T (p.Glu609Ter) c.1870G>T (p.Glu624Ter) | |
2 | g.26480290C>G | CA346132232 | OTOF | c.1825G>C (p.Glu609Gln) c.1870G>C (p.Glu624Gln) | |
2 | g.26480290C>T | CA346132233 | OTOF | c.1825G>A (p.Glu609Lys) c.1870G>A (p.Glu624Lys) | gnomAD v4 |
2 | g.26480291T>A | CA346132240 | OTOF | c.1824A>T (p.Glu608Asp) c.1869A>T (p.Glu623Asp) | |
2 | g.26480291T>C | CA425205564 | OTOF | c.1824A>G (p.Glu608=) c.1869A>G (p.Glu623=) | |
2 | g.26480291T>G | CA346132239 | OTOF | c.1824A>C (p.Glu608Asp) c.1869A>C (p.Glu623Asp) | |
2 | g.26480292T>A | CA346132242 | OTOF | c.1823A>T (p.Glu608Val) c.1868A>T (p.Glu623Val) | |
2 | g.26480292T>C | CA346132245 | OTOF | c.1823A>G (p.Glu608Gly) c.1868A>G (p.Glu623Gly) | gnomAD v4 |
2 | g.26480292T>G | CA346132248 | OTOF | c.1823A>C (p.Glu608Ala) c.1868A>C (p.Glu623Ala) | |
2 | g.26480293C>A | CA346132253 | OTOF | c.1822G>T (p.Glu608Ter) c.1867G>T (p.Glu623Ter) | |
2 | g.26480293C= | CA1239827224 | OTOF | c.1822G= (p.Glu608=) c.1867G= (p.Glu623=) | |
2 | g.26480293C>G | CA346132255 | OTOF | c.1822G>C (p.Glu608Gln) c.1867G>C (p.Glu623Gln) | |
2 | g.26480293C>T | CA346132260 | OTOF | c.1822G>A (p.Glu608Lys) c.1867G>A (p.Glu623Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.26480294C>A | CA346132265 | OTOF | c.1821G>T (p.Met607Ile) c.1866G>T (p.Met622Ile) | |
2 | g.26480294C>G | CA346132271 | OTOF | c.1821G>C (p.Met607Ile) c.1866G>C (p.Met622Ile) | |
2 | g.26480294C>T | CA346132268 | OTOF | c.1821G>A (p.Met607Ile) c.1866G>A (p.Met622Ile) | |
2 | g.26480295A= | CA1239827225 | OTOF | c.1820T= (p.Met607=) c.1865T= (p.Met622=) | |
2 | g.26480295A>C | CA346132274 | OTOF | c.1820T>G (p.Met607Arg) c.1865T>G (p.Met622Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480295A>G | CA346132275 | OTOF | c.1820T>C (p.Met607Thr) c.1865T>C (p.Met622Thr) | COSMIC |
2 | g.26480295A>T | CA346132276 | OTOF | c.1820T>A (p.Met607Lys) c.1865T>A (p.Met622Lys) | |
2 | g.26480296T>A | CA346132278 | OTOF | c.1819A>T (p.Met607Leu) c.1864A>T (p.Met622Leu) | |
2 | g.26480296T>C | CA346132280 | OTOF | c.1819A>G (p.Met607Val) c.1864A>G (p.Met622Val) | gnomAD v4 |
2 | g.26480296T>G | CA346132281 | OTOF | c.1819A>C (p.Met607Leu) c.1864A>C (p.Met622Leu) | |
2 | g.26480297T>A | CA346132283 | OTOF | c.1818A>T (p.Lys606Asn) c.1863A>T (p.Lys621Asn) | |
2 | g.26480297T>C | CA425205565 | OTOF | c.1818A>G (p.Lys606=) c.1863A>G (p.Lys621=) | |
2 | g.26480297T>G | CA346132284 | OTOF | c.1818A>C (p.Lys606Asn) c.1863A>C (p.Lys621Asn) | |
2 | g.26480298T>A | CA346132287 | OTOF | c.1817A>T (p.Lys606Ile) c.1862A>T (p.Lys621Ile) | |
2 | g.26480298T>C | CA346132289 | OTOF | c.1817A>G (p.Lys606Arg) c.1862A>G (p.Lys621Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480298T>G | CA346132290 | OTOF | c.1817A>C (p.Lys606Thr) c.1862A>C (p.Lys621Thr) | |
2 | g.26480298T= | CA1239827228 | OTOF | c.1817A= (p.Lys606=) c.1862A= (p.Lys621=) | |
2 | g.26480299T>A | CA346132305 | OTOF | c.1816A>T (p.Lys606Ter) c.1861A>T (p.Lys621Ter) | |
2 | g.26480299T>C | CA346132300 | OTOF | c.1816A>G (p.Lys606Glu) c.1861A>G (p.Lys621Glu) | |
2 | g.26480299T>G | CA346132295 | OTOF | c.1816A>C (p.Lys606Gln) c.1861A>C (p.Lys621Gln) | |
2 | g.26480300A= | CA1239827229 | OTOF | c.1815T= (p.Gly605=) c.1860T= (p.Gly620=) | |
2 | g.26480300A>C | CA1564163 | OTOF | c.1815T>G (p.Gly605=) c.1860T>G (p.Gly620=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480300A>G | CA425205566 | OTOF | c.1815T>C (p.Gly605=) c.1860T>C (p.Gly620=) | |
2 | g.26480300A>T | CA425205567 | OTOF | c.1815T>A (p.Gly605=) c.1860T>A (p.Gly620=) | |
2 | g.26480301C>A | CA346132314 | OTOF | c.1814G>T (p.Gly605Val) c.1859G>T (p.Gly620Val) | |
2 | g.26480301C>G | CA346132317 | OTOF | c.1814G>C (p.Gly605Ala) c.1859G>C (p.Gly620Ala) | |
2 | g.26480301C>T | CA346132322 | OTOF | c.1814G>A (p.Gly605Asp) c.1859G>A (p.Gly620Asp) | |
2 | g.26480302C>A | CA346132327 | OTOF | c.1813G>T (p.Gly605Cys) c.1858G>T (p.Gly620Cys) | |
2 | g.26480302C>G | CA346132329 | OTOF | c.1813G>C (p.Gly605Arg) c.1858G>C (p.Gly620Arg) | |
2 | g.26480302C>T | CA346132332 | OTOF | c.1813G>A (p.Gly605Ser) c.1858G>A (p.Gly620Ser) | |
2 | g.26480303T>A | CA425205568 | OTOF | c.1812A>T (p.Ala604=) c.1857A>T (p.Ala619=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480303T>C | CA425205569 | OTOF | c.1812A>G (p.Ala604=) c.1857A>G (p.Ala619=) | gnomAD v4 |
2 | g.26480303T>G | CA425205570 | OTOF | c.1812A>C (p.Ala604=) c.1857A>C (p.Ala619=) | |
2 | g.26480303T= | CA1239827231 | OTOF | c.1812A= (p.Ala604=) c.1857A= (p.Ala619=) | |
2 | g.26480304G>A | CA346132343 | OTOF | c.1811C>T (p.Ala604Val) c.1856C>T (p.Ala619Val) | gnomAD v4 |
2 | g.26480304G>C | CA346132336 | OTOF | c.1811C>G (p.Ala604Gly) c.1856C>G (p.Ala619Gly) | |
2 | g.26480304G>T | CA346132339 | OTOF | c.1811C>A (p.Ala604Glu) c.1856C>A (p.Ala619Glu) | gnomAD v4 |
2 | g.26480305C>A | CA346132347 | OTOF | c.1810G>T (p.Ala604Ser) c.1855G>T (p.Ala619Ser) | gnomAD v4 |
2 | g.26480305C>G | CA346132350 | OTOF | c.1810G>C (p.Ala604Pro) c.1855G>C (p.Ala619Pro) | |
2 | g.26480305C>T | CA346132353 | OTOF | c.1810G>A (p.Ala604Thr) c.1855G>A (p.Ala619Thr) | |
2 | g.26480306A>C | CA346132356 | OTOF | c.1809T>G (p.Cys603Trp) c.1854T>G (p.Cys618Trp) | |
2 | g.26480306A>G | CA425205573 | OTOF | c.1809T>C (p.Cys603=) c.1854T>C (p.Cys618=) | |
2 | g.26480306A>T | CA346132357 | OTOF | c.1809T>A (p.Cys603Ter) c.1854T>A (p.Cys618Ter) | |
2 | g.26480307C>A | CA346132360 | OTOF | c.1808G>T (p.Cys603Phe) c.1853G>T (p.Cys618Phe) | |
2 | g.26480307C>G | CA346132365 | OTOF | c.1808G>C (p.Cys603Ser) c.1853G>C (p.Cys618Ser) | gnomAD v4 |
2 | g.26480307C>T | CA346132363 | OTOF | c.1808G>A (p.Cys603Tyr) c.1853G>A (p.Cys618Tyr) | gnomAD v4 |
2 | g.26480308A>C | CA346132387 | OTOF | c.1807T>G (p.Cys603Gly) c.1852T>G (p.Cys618Gly) | |
2 | g.26480308A>G | CA346132391 | OTOF | c.1807T>C (p.Cys603Arg) c.1852T>C (p.Cys618Arg) | gnomAD v4 |
2 | g.26480308A>T | CA346132394 | OTOF | c.1807T>A (p.Cys603Ser) c.1852T>A (p.Cys618Ser) | |
2 | g.26480309G>A | CA425205579 | OTOF | c.1806C>T (p.Ser602=) c.1851C>T (p.Ser617=) | gnomAD v4 |
2 | g.26480309G>C | CA346132397 | OTOF | c.1806C>G (p.Ser602Arg) c.1851C>G (p.Ser617Arg) | |
2 | g.26480309G>T | CA346132398 | OTOF | c.1806C>A (p.Ser602Arg) c.1851C>A (p.Ser617Arg) | gnomAD v4 |
2 | g.26480310C>A | CA346132399 | OTOF | c.1805G>T (p.Ser602Ile) c.1850G>T (p.Ser617Ile) | |
2 | g.26480310C>G | CA346132402 | OTOF | c.1805G>C (p.Ser602Thr) c.1850G>C (p.Ser617Thr) | |
2 | g.26480310C>T | CA346132405 | OTOF | c.1805G>A (p.Ser602Asn) c.1850G>A (p.Ser617Asn) | |
2 | g.26480311T>A | CA346132408 | OTOF | c.1804A>T (p.Ser602Cys) c.1849A>T (p.Ser617Cys) | |
2 | g.26480311T>C | CA346132410 | OTOF | c.1804A>G (p.Ser602Gly) c.1849A>G (p.Ser617Gly) | dbSNP |
2 | g.26480311T>G | CA346132415 | OTOF | c.1804A>C (p.Ser602Arg) c.1849A>C (p.Ser617Arg) | |
2 | g.26480311T= | CA1239827234 | OTOF | c.1804A= (p.Ser602=) c.1849A= (p.Ser617=) | |
2 | g.26480312C>A | CA346132427 | OTOF | c.1804-1G>T (n.1804-1G>T) c.1849-1G>T (n.1849-1G>T) | |
2 | g.26480312C>G | CA346132422 | OTOF | c.1804-1G>C (n.1804-1G>C) c.1849-1G>C (n.1849-1G>C) | gnomAD v4 |
2 | g.26480312C>T | CA346132420 | OTOF | c.1804-1G>A (n.1804-1G>A) c.1849-1G>A (n.1849-1G>A) | |
2 | g.26480313T>A | CA346132432 | OTOF | c.1804-2A>T (n.1804-2A>T) c.1849-2A>T (n.1849-2A>T) | |
2 | g.26480313T>C | CA346132436 | OTOF | c.1804-2A>G (n.1804-2A>G) c.1849-2A>G (n.1849-2A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.26480313T>G | CA346132435 | OTOF | c.1804-2A>C (n.1804-2A>C) c.1849-2A>C (n.1849-2A>C) | gnomAD v4 |
2 | g.26480313dup | CA2658237956 | OTOF | c.1804-2dup (n.1804-2dup) c.1849-2dup (n.1849-2dup) | gnomAD v4 |
2 | g.26480314del | CA2564215125 | OTOF | c.1804-3del (n.1804-3del) c.1849-3del (n.1849-3del) | gnomAD v4 |
2 | g.26480314G>T | CA2658237957 | OTOF | c.1804-3C>A (n.1804-3C>A) c.1849-3C>A (n.1849-3C>A) | gnomAD v4 |
2 | g.26480315T>C | CA2658237958 | OTOF | c.1804-4A>G (n.1804-4A>G) c.1849-4A>G (n.1849-4A>G) | ClinVar gnomAD v4 |
2 | g.26480316G>A | CA44400814 | OTOF | c.1804-5C>T (n.1804-5C>T) c.1849-5C>T (n.1849-5C>T) | dbSNP gnomAD v4 |
2 | g.26480316G= | CA1239827235 | OTOF | c.1804-5C= (n.1804-5C=) c.1849-5C= (n.1849-5C=) | |
2 | g.26480316G>T | CA2658237959 | OTOF | c.1804-5C>A (n.1804-5C>A) c.1849-5C>A (n.1849-5C>A) | gnomAD v4 |
2 | g.26480319del | CA2658237960 | OTOF | c.1804-5del (n.1804-5del) c.1849-5del (n.1849-5del) | gnomAD v4 |
2 | g.26480317G>C | CA1239827238 | OTOF | c.1804-6C>G (n.1804-6C>G) c.1849-6C>G (n.1849-6C>G) | dbSNP |
2 | g.26480317G= | CA1239827237 | OTOF | c.1804-6C= (n.1804-6C=) c.1849-6C= (n.1849-6C=) | |
2 | g.26480317G>T | CA1239827236 | OTOF | c.1804-6C>A (n.1804-6C>A) c.1849-6C>A (n.1849-6C>A) | dbSNP gnomAD v4 |
2 | g.26480318G>A | CA2658237961 | OTOF | c.1804-7C>T (n.1804-7C>T) c.1849-7C>T (n.1849-7C>T) | ClinVar gnomAD v4 |
2 | g.26480318G>C | CA531395539 | OTOF | c.1804-7C>G (n.1804-7C>G) c.1849-7C>G (n.1849-7C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480318G= | CA1239827239 | OTOF | c.1804-7C= (n.1804-7C=) c.1849-7C= (n.1849-7C=) | |
2 | g.26480318G>T | CA2658237962 | OTOF | c.1804-7C>A (n.1804-7C>A) c.1849-7C>A (n.1849-7C>A) | gnomAD v4 |
2 | g.26480319G>A | CA2658237963 | OTOF | c.1804-8C>T (n.1804-8C>T) c.1849-8C>T (n.1849-8C>T) | ClinVar gnomAD v4 |
2 | g.26480319G>T | CA2658237964 | OTOF | c.1804-8C>A (n.1804-8C>A) c.1849-8C>A (n.1849-8C>A) | gnomAD v4 |
2 | g.26480320A>G | CA2658237965 | OTOF | c.1804-9T>C (n.1804-9T>C) c.1849-9T>C (n.1849-9T>C) | gnomAD v4 |
2 | g.26480321G>T | CA2658237966 | OTOF | c.1804-10C>A (n.1804-10C>A) c.1849-10C>A (n.1849-10C>A) | gnomAD v4 |
2 | g.26480322G>A | CA1239827241 | OTOF | c.1804-11C>T (n.1804-11C>T) c.1849-11C>T (n.1849-11C>T) | dbSNP gnomAD v4 |
2 | g.26480322G>C | CA2658237967 | OTOF | c.1804-11C>G (n.1804-11C>G) c.1849-11C>G (n.1849-11C>G) | gnomAD v4 |
2 | g.26480322G= | CA1239827240 | OTOF | c.1804-11C= (n.1804-11C=) c.1849-11C= (n.1849-11C=) | |
2 | g.26480322G>T | CA2576699623 | OTOF | c.1804-11C>A (n.1804-11C>A) c.1849-11C>A (n.1849-11C>A) | gnomAD v4 |
2 | g.26480323C= | CA1239827242 | OTOF | c.1804-12G= (n.1804-12G=) c.1849-12G= (n.1849-12G=) | |
2 | g.26480323C>T | CA1028609433 | OTOF | c.1804-12G>A (n.1804-12G>A) c.1849-12G>A (n.1849-12G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480324A>G | CA2658237968 | OTOF | c.1804-13T>C (n.1804-13T>C) c.1849-13T>C (n.1849-13T>C) | gnomAD v4 |
2 | g.26480324A>T | CA2576699624 | OTOF | c.1804-13T>A (n.1804-13T>A) c.1849-13T>A (n.1849-13T>A) | |
2 | g.26480325G>A | CA2658237969 | OTOF | c.1804-14C>T (n.1804-14C>T) c.1849-14C>T (n.1849-14C>T) | gnomAD v4 |
2 | g.26480325G>T | CA2576699625 | OTOF | c.1804-14C>A (n.1804-14C>A) c.1849-14C>A (n.1849-14C>A) | gnomAD v4 |
2 | g.26480326T>C | CA2658237970 | OTOF | c.1804-15A>G (n.1804-15A>G) c.1849-15A>G (n.1849-15A>G) | gnomAD v4 |
2 | g.26480328C= | CA1239827243 | OTOF | c.1804-17G= (n.1804-17G=) c.1849-17G= (n.1849-17G=) | |
2 | g.26480328C>T | CA531395540 | OTOF | c.1804-17G>A (n.1804-17G>A) c.1849-17G>A (n.1849-17G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480329A>G | CA2658237971 | OTOF | c.1804-18T>C (n.1804-18T>C) c.1849-18T>C (n.1849-18T>C) | gnomAD v4 |
2 | g.26480330A>G | CA2658237972 | OTOF | c.1804-19T>C (n.1804-19T>C) c.1849-19T>C (n.1849-19T>C) | gnomAD v4 |
2 | g.26480331A= | CA1239827244 | OTOF | c.1804-20T= (n.1804-20T=) c.1849-20T= (n.1849-20T=) | |
2 | g.26480331A>C | CA2658237973 | OTOF | c.1804-20T>G (n.1804-20T>G) c.1849-20T>G (n.1849-20T>G) | gnomAD v4 |
2 | g.26480331A>G | CA531395543 | OTOF | c.1804-20T>C (n.1804-20T>C) c.1849-20T>C (n.1849-20T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480331A>T | CA1564164 | OTOF | c.1804-20T>A (n.1804-20T>A) c.1849-20T>A (n.1849-20T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480332G>A | CA1028609438 | OTOF | c.1804-21C>T (n.1804-21C>T) c.1849-21C>T (n.1849-21C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.26480332G= | CA1239827247 | OTOF | c.1804-21C= (n.1804-21C=) c.1849-21C= (n.1849-21C=) | |
2 | g.26480332G>T | CA2576699626 | OTOF | c.1804-21C>A (n.1804-21C>A) c.1849-21C>A (n.1849-21C>A) | gnomAD v4 |
2 | g.26480333C>A | CA531395546 | OTOF | c.1804-22G>T (n.1804-22G>T) c.1849-22G>T (n.1849-22G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480333C= | CA1239827248 | OTOF | c.1804-22G= (n.1804-22G=) c.1849-22G= (n.1849-22G=) | |
2 | g.26480333C>T | CA1564165 | OTOF | c.1804-22G>A (n.1804-22G>A) c.1849-22G>A (n.1849-22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480334G>A | CA1564166 | OTOF | c.1804-23C>T (n.1804-23C>T) c.1849-23C>T (n.1849-23C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480334G= | CA1239827249 | OTOF | c.1804-23C= (n.1804-23C=) c.1849-23C= (n.1849-23C=) | |
2 | g.26480334G>T | CA2576699627 | OTOF | c.1804-23C>A (n.1804-23C>A) c.1849-23C>A (n.1849-23C>A) | gnomAD v4 |
2 | g.26480335T>C | CA1564167 | OTOF | c.1804-24A>G (n.1804-24A>G) c.1849-24A>G (n.1849-24A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480335T= | CA1239827250 | OTOF | c.1804-24A= (n.1804-24A=) c.1849-24A= (n.1849-24A=) | |
2 | g.26480337C>A | CA2576699628 | OTOF | c.1804-26G>T (n.1804-26G>T) c.1849-26G>T (n.1849-26G>T) | |
2 | g.26480337C>T | CA2658237974 | OTOF | c.1804-26G>A (n.1804-26G>A) c.1849-26G>A (n.1849-26G>A) | gnomAD v4 |
2 | g.26480338C>A | CA2576699629 | OTOF | c.1804-27G>T (n.1804-27G>T) c.1849-27G>T (n.1849-27G>T) | |
2 | g.26480338C= | CA1239827251 | OTOF | c.1804-27G= (n.1804-27G=) c.1849-27G= (n.1849-27G=) | |
2 | g.26480338C>T | CA531395552 | OTOF | c.1804-27G>A (n.1804-27G>A) c.1849-27G>A (n.1849-27G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.26480339T>C | CA1564168 | OTOF | c.1804-28A>G (n.1804-28A>G) c.1849-28A>G (n.1849-28A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.26480339T= | CA1239827253 | OTOF | c.1804-28A= (n.1804-28A=) c.1849-28A= (n.1849-28A=) | |
2 | g.26480340G>T | CA2658237975 | OTOF | c.1804-29C>A (n.1804-29C>A) c.1849-29C>A (n.1849-29C>A) | gnomAD v4 |
2 | g.26480341A>C | CA2658237976 | OTOF | c.1804-30T>G (n.1804-30T>G) c.1849-30T>G (n.1849-30T>G) | gnomAD v4 |
2 | g.26480342G>T | CA2658237977 | OTOF | c.1804-31C>A (n.1804-31C>A) c.1849-31C>A (n.1849-31C>A) | gnomAD v4 |
2 | g.26480343C>A | CA2576699630 | OTOF | c.1804-32G>T (n.1804-32G>T) c.1849-32G>T (n.1849-32G>T) | |
2 | g.26480343C= | CA1239827254 | OTOF | c.1804-32G= (n.1804-32G=) c.1849-32G= (n.1849-32G=) | |
2 | g.26480343C>T | CA1564169 | OTOF | c.1804-32G>A (n.1804-32G>A) c.1849-32G>A (n.1849-32G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480344T>A | CA2576699631 | OTOF | c.1804-33A>T (n.1804-33A>T) c.1849-33A>T (n.1849-33A>T) | |
2 | g.26480346G>C | CA1239827256 | OTOF | c.1804-35C>G (n.1804-35C>G) c.1849-35C>G (n.1849-35C>G) | dbSNP gnomAD v4 |
2 | g.26480346G= | CA1239827255 | OTOF | c.1804-35C= (n.1804-35C=) c.1849-35C= (n.1849-35C=) | |
2 | g.26480346G>T | CA2658237978 | OTOF | c.1804-35C>A (n.1804-35C>A) c.1849-35C>A (n.1849-35C>A) | gnomAD v4 |
2 | g.26480347A>G | CA2658237979 | OTOF | c.1804-36T>C (n.1804-36T>C) c.1849-36T>C (n.1849-36T>C) | gnomAD v4 |
2 | g.26480347A>T | CA2576699632 | OTOF | c.1804-36T>A (n.1804-36T>A) c.1849-36T>A (n.1849-36T>A) | |
2 | g.26480347_26480348delinsAG | CA1239827257 | OTOF | c.1804-37_1804-36delinsCT (n.1804-37_1804-36delinsCT) c.1849-37_1849-36delinsCT (n.1849-37_1849-36delinsCT) | |
2 | g.26480348del | CA1564170 | OTOF | c.1804-37del (n.1804-37del) c.1849-37del (n.1849-37del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.26480348G>T | CA2658237980 | OTOF | c.1804-37C>A (n.1804-37C>A) c.1849-37C>A (n.1849-37C>A) | gnomAD v4 |
2 | g.26480349T>A | CA2576699633 | OTOF | c.1804-38A>T (n.1804-38A>T) c.1849-38A>T (n.1849-38A>T) | gnomAD v4 |
2 | g.26480351del | CA2658237981 | OTOF | c.1804-39del (n.1804-39del) c.1849-39del (n.1849-39del) | gnomAD v4 |
2 | g.26480351A= | CA1239827259 | OTOF | c.1804-40T= (n.1804-40T=) c.1849-40T= (n.1849-40T=) | |
2 | g.26480351A>C | CA2658237982 | OTOF | c.1804-40T>G (n.1804-40T>G) c.1849-40T>G (n.1849-40T>G) | gnomAD v4 |
2 | g.26480351A>G | CA1564171 | OTOF | c.1804-40T>C (n.1804-40T>C) c.1849-40T>C (n.1849-40T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |