Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26480253A=CA1239827193OTOFc.1862T= (p.Met621=)
c.1907T= (p.Met636=)
2g.26480253A>CCA346131917OTOFc.1862T>G (p.Met621Arg)
c.1907T>G (p.Met636Arg)
2g.26480253A>GCA346131922OTOFc.1862T>C (p.Met621Thr)
c.1907T>C (p.Met636Thr)
dbSNP gnomAD v3 gnomAD v4
2g.26480253A>TCA346131921OTOFc.1862T>A (p.Met621Lys)
c.1907T>A (p.Met636Lys)
2g.26480254T>ACA346131923OTOFc.1861A>T (p.Met621Leu)
c.1906A>T (p.Met636Leu)
2g.26480254T>CCA1564159OTOFc.1861A>G (p.Met621Val)
c.1906A>G (p.Met636Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480254T>GCA346131925OTOFc.1861A>C (p.Met621Leu)
c.1906A>C (p.Met636Leu)
2g.26480254T=CA1239827196OTOFc.1861A= (p.Met621=)
c.1906A= (p.Met636=)
2g.26480255T>ACA425205540OTOFc.1860A>T (p.Ser620=)
c.1905A>T (p.Ser635=)
2g.26480255T>CCA425205541OTOFc.1860A>G (p.Ser620=)
c.1905A>G (p.Ser635=)
dbSNP gnomAD v2 gnomAD v4
2g.26480255T>GCA425205542OTOFc.1860A>C (p.Ser620=)
c.1905A>C (p.Ser635=)
2g.26480255T=CA1239827198OTOFc.1860A= (p.Ser620=)
c.1905A= (p.Ser635=)
2g.26480256G>ACA346131930OTOFc.1859C>T (p.Ser620Leu)
c.1904C>T (p.Ser635Leu)
gnomAD v4
2g.26480256G>CCA346131934OTOFc.1859C>G (p.Ser620Ter)
c.1904C>G (p.Ser635Ter)
gnomAD v4
2g.26480256G>TCA346131938OTOFc.1859C>A (p.Ser620Ter)
c.1904C>A (p.Ser635Ter)
2g.26480257A>CCA346131941OTOFc.1858T>G (p.Ser620Ala)
c.1903T>G (p.Ser635Ala)
2g.26480257A>GCA346131945OTOFc.1858T>C (p.Ser620Pro)
c.1903T>C (p.Ser635Pro)
gnomAD v4
2g.26480257A>TCA346131948OTOFc.1858T>A (p.Ser620Thr)
c.1903T>A (p.Ser635Thr)
2g.26480258G>ACA425205543OTOFc.1857C>T (p.Ala619=)
c.1902C>T (p.Ala634=)
2g.26480258G>CCA425205544OTOFc.1857C>G (p.Ala619=)
c.1902C>G (p.Ala634=)
2g.26480258G>TCA425205545OTOFc.1857C>A (p.Ala619=)
c.1902C>A (p.Ala634=)
2g.26480259G>ACA346131952OTOFc.1856C>T (p.Ala619Val)
c.1901C>T (p.Ala634Val)
gnomAD v4
2g.26480259G>CCA346131956OTOFc.1856C>G (p.Ala619Gly)
c.1901C>G (p.Ala634Gly)
2g.26480259G>TCA346131960OTOFc.1856C>A (p.Ala619Asp)
c.1901C>A (p.Ala634Asp)
2g.26480260C>ACA346131968OTOFc.1855G>T (p.Ala619Ser)
c.1900G>T (p.Ala634Ser)
2g.26480260C=CA1239827201OTOFc.1855G= (p.Ala619=)
c.1900G= (p.Ala634=)
2g.26480260C>GCA346131972OTOFc.1855G>C (p.Ala619Pro)
c.1900G>C (p.Ala634Pro)
2g.26480260C>TCA1564160OTOFc.1855G>A (p.Ala619Thr)
c.1900G>A (p.Ala634Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480261C>ACA346131978OTOFc.1854G>T (p.Glu618Asp)
c.1899G>T (p.Glu633Asp)
2g.26480261C>GCA346131975OTOFc.1854G>C (p.Glu618Asp)
c.1899G>C (p.Glu633Asp)
2g.26480261C>TCA425205546OTOFc.1854G>A (p.Glu618=)
c.1899G>A (p.Glu633=)
gnomAD v4
2g.26480262T>ACA346131984OTOFc.1853A>T (p.Glu618Val)
c.1898A>T (p.Glu633Val)
2g.26480262T>CCA346131987OTOFc.1853A>G (p.Glu618Gly)
c.1898A>G (p.Glu633Gly)
2g.26480262T>GCA346131990OTOFc.1853A>C (p.Glu618Ala)
c.1898A>C (p.Glu633Ala)
gnomAD v4
2g.26480263C>ACA346131996OTOFc.1852G>T (p.Glu618Ter)
c.1897G>T (p.Glu633Ter)
2g.26480263C>GCA346131999OTOFc.1852G>C (p.Glu618Gln)
c.1897G>C (p.Glu633Gln)
2g.26480263C>TCA346132001OTOFc.1852G>A (p.Glu618Lys)
c.1897G>A (p.Glu633Lys)
gnomAD v4
2g.26480264C>ACA425205547OTOFc.1851G>T (p.Leu617=)
c.1896G>T (p.Leu632=)
2g.26480264C=CA1239827203OTOFc.1851G= (p.Leu617=)
c.1896G= (p.Leu632=)
2g.26480264C>GCA425205548OTOFc.1851G>C (p.Leu617=)
c.1896G>C (p.Leu632=)
2g.26480264C>TCA44400810OTOFc.1851G>A (p.Leu617=)
c.1896G>A (p.Leu632=)
dbSNP gnomAD v3 gnomAD v4
2g.26480265A>CCA346132005OTOFc.1850T>G (p.Leu617Arg)
c.1895T>G (p.Leu632Arg)
2g.26480265A>GCA346132014OTOFc.1850T>C (p.Leu617Pro)
c.1895T>C (p.Leu632Pro)
2g.26480265A>TCA346132011OTOFc.1850T>A (p.Leu617Gln)
c.1895T>A (p.Leu632Gln)
2g.26480266G>ACA425205549OTOFc.1849C>T (p.Leu617=)
c.1894C>T (p.Leu632=)
2g.26480266G>CCA346132018OTOFc.1849C>G (p.Leu617Val)
c.1894C>G (p.Leu632Val)
2g.26480266G>TCA346132022OTOFc.1849C>A (p.Leu617Met)
c.1894C>A (p.Leu632Met)
2g.26480267G>ACA425205550OTOFc.1848C>T (p.Phe616=)
c.1893C>T (p.Phe631=)
2g.26480267G>CCA346132029OTOFc.1848C>G (p.Phe616Leu)
c.1893C>G (p.Phe631Leu)
2g.26480267G>TCA346132033OTOFc.1848C>A (p.Phe616Leu)
c.1893C>A (p.Phe631Leu)
gnomAD v4
2g.26480268A>CCA346132038OTOFc.1847T>G (p.Phe616Cys)
c.1892T>G (p.Phe631Cys)
2g.26480268A>GCA346132050OTOFc.1847T>C (p.Phe616Ser)
c.1892T>C (p.Phe631Ser)
2g.26480268A>TCA346132041OTOFc.1847T>A (p.Phe616Tyr)
c.1892T>A (p.Phe631Tyr)
2g.26480269A>CCA346132053OTOFc.1846T>G (p.Phe616Val)
c.1891T>G (p.Phe631Val)
2g.26480269A>GCA346132056OTOFc.1846T>C (p.Phe616Leu)
c.1891T>C (p.Phe631Leu)
2g.26480269A>TCA346132057OTOFc.1846T>A (p.Phe616Ile)
c.1891T>A (p.Phe631Ile)
2g.26480270G>ACA425205551OTOFc.1845C>T (p.Ala615=)
c.1890C>T (p.Ala630=)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26480270G>CCA425205552OTOFc.1845C>G (p.Ala615=)
c.1890C>G (p.Ala630=)
2g.26480270G=CA1239827204OTOFc.1845C= (p.Ala615=)
c.1890C= (p.Ala630=)
2g.26480270G>TCA425205553OTOFc.1845C>A (p.Ala615=)
c.1890C>A (p.Ala630=)
gnomAD v4
2g.26480271G>ACA346132058OTOFc.1844C>T (p.Ala615Val)
c.1889C>T (p.Ala630Val)
2g.26480271G>CCA1564161OTOFc.1844C>G (p.Ala615Gly)
c.1889C>G (p.Ala630Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480271G=CA1239827206OTOFc.1844C= (p.Ala615=)
c.1889C= (p.Ala630=)
2g.26480271G>TCA346132060OTOFc.1844C>A (p.Ala615Asp)
c.1889C>A (p.Ala630Asp)
gnomAD v4
2g.26480272C>ACA346132070OTOFc.1843G>T (p.Ala615Ser)
c.1888G>T (p.Ala630Ser)
2g.26480272C>GCA346132072OTOFc.1843G>C (p.Ala615Pro)
c.1888G>C (p.Ala630Pro)
2g.26480272C>TCA346132076OTOFc.1843G>A (p.Ala615Thr)
c.1888G>A (p.Ala630Thr)
2g.26480273T>ACA425205554OTOFc.1842A>T (p.Gly614=)
c.1887A>T (p.Gly629=)
2g.26480273T>CCA425205556OTOFc.1842A>G (p.Gly614=)
c.1887A>G (p.Gly629=)
dbSNP gnomAD v2
2g.26480273T>GCA425205555OTOFc.1842A>C (p.Gly614=)
c.1887A>C (p.Gly629=)
2g.26480273T=CA1239827207OTOFc.1842A= (p.Gly614=)
c.1887A= (p.Gly629=)
2g.26480274C>ACA346132081OTOFc.1841G>T (p.Gly614Val)
c.1886G>T (p.Gly629Val)
2g.26480274C=CA1239827211OTOFc.1841G= (p.Gly614=)
c.1886G= (p.Gly629=)
2g.26480274C>GCA346132083OTOFc.1841G>C (p.Gly614Ala)
c.1886G>C (p.Gly629Ala)
2g.26480274C>TCA345098OTOFc.1841G>A (p.Gly614Glu)
c.1886G>A (p.Gly629Glu)
ClinVar dbSNP
2g.26480275C>ACA346132090OTOFc.1840G>T (p.Gly614Ter)
c.1885G>T (p.Gly629Ter)
2g.26480275C>GCA346132094OTOFc.1840G>C (p.Gly614Arg)
c.1885G>C (p.Gly629Arg)
2g.26480275C>TCA346132093OTOFc.1840G>A (p.Gly614Arg)
c.1885G>A (p.Gly629Arg)
2g.26480276A>CCA346132100OTOFc.1839T>G (p.Phe613Leu)
c.1884T>G (p.Phe628Leu)
2g.26480276A>GCA425205557OTOFc.1839T>C (p.Phe613=)
c.1884T>C (p.Phe628=)
2g.26480276A>TCA346132105OTOFc.1839T>A (p.Phe613Leu)
c.1884T>A (p.Phe628Leu)
2g.26480277A>CCA346132111OTOFc.1838T>G (p.Phe613Cys)
c.1883T>G (p.Phe628Cys)
gnomAD v4
2g.26480277A>GCA346132114OTOFc.1838T>C (p.Phe613Ser)
c.1883T>C (p.Phe628Ser)
2g.26480277A>TCA346132125OTOFc.1838T>A (p.Phe613Tyr)
c.1883T>A (p.Phe628Tyr)
2g.26480278A>CCA346132130OTOFc.1837T>G (p.Phe613Val)
c.1882T>G (p.Phe628Val)
2g.26480278A>GCA346132133OTOFc.1837T>C (p.Phe613Leu)
c.1882T>C (p.Phe628Leu)
2g.26480278A>TCA346132137OTOFc.1837T>A (p.Phe613Ile)
c.1882T>A (p.Phe628Ile)
2g.26480279G>ACA425205558OTOFc.1836C>T (p.Leu612=)
c.1881C>T (p.Leu627=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26480279G>CCA425205559OTOFc.1836C>G (p.Leu612=)
c.1881C>G (p.Leu627=)
dbSNP
2g.26480279G=CA1239827214OTOFc.1836C= (p.Leu612=)
c.1881C= (p.Leu627=)
2g.26480279G>TCA425205560OTOFc.1836C>A (p.Leu612=)
c.1881C>A (p.Leu627=)
2g.26480280A=CA1239827216OTOFc.1835T= (p.Leu612=)
c.1880T= (p.Leu627=)
2g.26480280A>CCA346132140OTOFc.1835T>G (p.Leu612Arg)
c.1880T>G (p.Leu627Arg)
2g.26480280A>GCA346132143OTOFc.1835T>C (p.Leu612Pro)
c.1880T>C (p.Leu627Pro)
dbSNP gnomAD v2
2g.26480280A>TCA346132146OTOFc.1835T>A (p.Leu612His)
c.1880T>A (p.Leu627His)
2g.26480281G>ACA346132157OTOFc.1834C>T (p.Leu612Phe)
c.1879C>T (p.Leu627Phe)
COSMIC
2g.26480281G>CCA346132154OTOFc.1834C>G (p.Leu612Val)
c.1879C>G (p.Leu627Val)
gnomAD v4
2g.26480281G>TCA346132152OTOFc.1834C>A (p.Leu612Ile)
c.1879C>A (p.Leu627Ile)
gnomAD v4
2g.26480282A>CCA346132162OTOFc.1833T>G (p.Phe611Leu)
c.1878T>G (p.Phe626Leu)
2g.26480282A>GCA425205561OTOFc.1833T>C (p.Phe611=)
c.1878T>C (p.Phe626=)
2g.26480282A>TCA346132164OTOFc.1833T>A (p.Phe611Leu)
c.1878T>A (p.Phe626Leu)
2g.26480283A=CA1239827218OTOFc.1832T= (p.Phe611=)
c.1877T= (p.Phe626=)
2g.26480283A>CCA346132173OTOFc.1832T>G (p.Phe611Cys)
c.1877T>G (p.Phe626Cys)
2g.26480283A>GCA346132176OTOFc.1832T>C (p.Phe611Ser)
c.1877T>C (p.Phe626Ser)
2g.26480283A>TCA1564162OTOFc.1832T>A (p.Phe611Tyr)
c.1877T>A (p.Phe626Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480284A>CCA346132184OTOFc.1831T>G (p.Phe611Val)
c.1876T>G (p.Phe626Val)
2g.26480284A>GCA346132187OTOFc.1831T>C (p.Phe611Leu)
c.1876T>C (p.Phe626Leu)
2g.26480284A>TCA346132192OTOFc.1831T>A (p.Phe611Ile)
c.1876T>A (p.Phe626Ile)
2g.26480285G>ACA425205562OTOFc.1830C>T (p.Phe610=)
c.1875C>T (p.Phe625=)
2g.26480285G>CCA346132195OTOFc.1830C>G (p.Phe610Leu)
c.1875C>G (p.Phe625Leu)
2g.26480285G>TCA346132198OTOFc.1830C>A (p.Phe610Leu)
c.1875C>A (p.Phe625Leu)
gnomAD v4 COSMIC
2g.26480286A=CA1239827221OTOFc.1829T= (p.Phe610=)
c.1874T= (p.Phe625=)
2g.26480286A>CCA346132203OTOFc.1829T>G (p.Phe610Cys)
c.1874T>G (p.Phe625Cys)
2g.26480286A>GCA346132206OTOFc.1829T>C (p.Phe610Ser)
c.1874T>C (p.Phe625Ser)
2g.26480286A>TCA346132210OTOFc.1829T>A (p.Phe610Tyr)
c.1874T>A (p.Phe625Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480287delCA2586968844OTOFc.1829del (p.Phe610SerfsTer12)
c.1874del (p.Phe625SerfsTer12)
2g.26480287A>CCA346132216OTOFc.1828T>G (p.Phe610Val)
c.1873T>G (p.Phe625Val)
2g.26480287A>GCA346132217OTOFc.1828T>C (p.Phe610Leu)
c.1873T>C (p.Phe625Leu)
gnomAD v4
2g.26480287A>TCA346132213OTOFc.1828T>A (p.Phe610Ile)
c.1873T>A (p.Phe625Ile)
2g.26480288T>ACA346132223OTOFc.1827A>T (p.Glu609Asp)
c.1872A>T (p.Glu624Asp)
2g.26480288T>CCA425205563OTOFc.1827A>G (p.Glu609=)
c.1872A>G (p.Glu624=)
2g.26480288T>GCA346132219OTOFc.1827A>C (p.Glu609Asp)
c.1872A>C (p.Glu624Asp)
COSMIC
2g.26480289T>ACA346132227OTOFc.1826A>T (p.Glu609Val)
c.1871A>T (p.Glu624Val)
2g.26480289T>CCA346132228OTOFc.1826A>G (p.Glu609Gly)
c.1871A>G (p.Glu624Gly)
2g.26480289T>GCA346132229OTOFc.1826A>C (p.Glu609Ala)
c.1871A>C (p.Glu624Ala)
dbSNP gnomAD v4
2g.26480290C>ACA346132231OTOFc.1825G>T (p.Glu609Ter)
c.1870G>T (p.Glu624Ter)
2g.26480290C>GCA346132232OTOFc.1825G>C (p.Glu609Gln)
c.1870G>C (p.Glu624Gln)
2g.26480290C>TCA346132233OTOFc.1825G>A (p.Glu609Lys)
c.1870G>A (p.Glu624Lys)
gnomAD v4
2g.26480291T>ACA346132240OTOFc.1824A>T (p.Glu608Asp)
c.1869A>T (p.Glu623Asp)
2g.26480291T>CCA425205564OTOFc.1824A>G (p.Glu608=)
c.1869A>G (p.Glu623=)
2g.26480291T>GCA346132239OTOFc.1824A>C (p.Glu608Asp)
c.1869A>C (p.Glu623Asp)
2g.26480292T>ACA346132242OTOFc.1823A>T (p.Glu608Val)
c.1868A>T (p.Glu623Val)
2g.26480292T>CCA346132245OTOFc.1823A>G (p.Glu608Gly)
c.1868A>G (p.Glu623Gly)
gnomAD v4
2g.26480292T>GCA346132248OTOFc.1823A>C (p.Glu608Ala)
c.1868A>C (p.Glu623Ala)
2g.26480293C>ACA346132253OTOFc.1822G>T (p.Glu608Ter)
c.1867G>T (p.Glu623Ter)
2g.26480293C=CA1239827224OTOFc.1822G= (p.Glu608=)
c.1867G= (p.Glu623=)
2g.26480293C>GCA346132255OTOFc.1822G>C (p.Glu608Gln)
c.1867G>C (p.Glu623Gln)
2g.26480293C>TCA346132260OTOFc.1822G>A (p.Glu608Lys)
c.1867G>A (p.Glu623Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26480294C>ACA346132265OTOFc.1821G>T (p.Met607Ile)
c.1866G>T (p.Met622Ile)
2g.26480294C>GCA346132271OTOFc.1821G>C (p.Met607Ile)
c.1866G>C (p.Met622Ile)
2g.26480294C>TCA346132268OTOFc.1821G>A (p.Met607Ile)
c.1866G>A (p.Met622Ile)
2g.26480295A=CA1239827225OTOFc.1820T= (p.Met607=)
c.1865T= (p.Met622=)
2g.26480295A>CCA346132274OTOFc.1820T>G (p.Met607Arg)
c.1865T>G (p.Met622Arg)
dbSNP gnomAD v3 gnomAD v4
2g.26480295A>GCA346132275OTOFc.1820T>C (p.Met607Thr)
c.1865T>C (p.Met622Thr)
COSMIC
2g.26480295A>TCA346132276OTOFc.1820T>A (p.Met607Lys)
c.1865T>A (p.Met622Lys)
2g.26480296T>ACA346132278OTOFc.1819A>T (p.Met607Leu)
c.1864A>T (p.Met622Leu)
2g.26480296T>CCA346132280OTOFc.1819A>G (p.Met607Val)
c.1864A>G (p.Met622Val)
gnomAD v4
2g.26480296T>GCA346132281OTOFc.1819A>C (p.Met607Leu)
c.1864A>C (p.Met622Leu)
2g.26480297T>ACA346132283OTOFc.1818A>T (p.Lys606Asn)
c.1863A>T (p.Lys621Asn)
2g.26480297T>CCA425205565OTOFc.1818A>G (p.Lys606=)
c.1863A>G (p.Lys621=)
2g.26480297T>GCA346132284OTOFc.1818A>C (p.Lys606Asn)
c.1863A>C (p.Lys621Asn)
2g.26480298T>ACA346132287OTOFc.1817A>T (p.Lys606Ile)
c.1862A>T (p.Lys621Ile)
2g.26480298T>CCA346132289OTOFc.1817A>G (p.Lys606Arg)
c.1862A>G (p.Lys621Arg)
dbSNP gnomAD v2 gnomAD v4
2g.26480298T>GCA346132290OTOFc.1817A>C (p.Lys606Thr)
c.1862A>C (p.Lys621Thr)
2g.26480298T=CA1239827228OTOFc.1817A= (p.Lys606=)
c.1862A= (p.Lys621=)
2g.26480299T>ACA346132305OTOFc.1816A>T (p.Lys606Ter)
c.1861A>T (p.Lys621Ter)
2g.26480299T>CCA346132300OTOFc.1816A>G (p.Lys606Glu)
c.1861A>G (p.Lys621Glu)
2g.26480299T>GCA346132295OTOFc.1816A>C (p.Lys606Gln)
c.1861A>C (p.Lys621Gln)
2g.26480300A=CA1239827229OTOFc.1815T= (p.Gly605=)
c.1860T= (p.Gly620=)
2g.26480300A>CCA1564163OTOFc.1815T>G (p.Gly605=)
c.1860T>G (p.Gly620=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480300A>GCA425205566OTOFc.1815T>C (p.Gly605=)
c.1860T>C (p.Gly620=)
2g.26480300A>TCA425205567OTOFc.1815T>A (p.Gly605=)
c.1860T>A (p.Gly620=)
2g.26480301C>ACA346132314OTOFc.1814G>T (p.Gly605Val)
c.1859G>T (p.Gly620Val)
2g.26480301C>GCA346132317OTOFc.1814G>C (p.Gly605Ala)
c.1859G>C (p.Gly620Ala)
2g.26480301C>TCA346132322OTOFc.1814G>A (p.Gly605Asp)
c.1859G>A (p.Gly620Asp)
2g.26480302C>ACA346132327OTOFc.1813G>T (p.Gly605Cys)
c.1858G>T (p.Gly620Cys)
2g.26480302C>GCA346132329OTOFc.1813G>C (p.Gly605Arg)
c.1858G>C (p.Gly620Arg)
2g.26480302C>TCA346132332OTOFc.1813G>A (p.Gly605Ser)
c.1858G>A (p.Gly620Ser)
2g.26480303T>ACA425205568OTOFc.1812A>T (p.Ala604=)
c.1857A>T (p.Ala619=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480303T>CCA425205569OTOFc.1812A>G (p.Ala604=)
c.1857A>G (p.Ala619=)
gnomAD v4
2g.26480303T>GCA425205570OTOFc.1812A>C (p.Ala604=)
c.1857A>C (p.Ala619=)
2g.26480303T=CA1239827231OTOFc.1812A= (p.Ala604=)
c.1857A= (p.Ala619=)
2g.26480304G>ACA346132343OTOFc.1811C>T (p.Ala604Val)
c.1856C>T (p.Ala619Val)
gnomAD v4
2g.26480304G>CCA346132336OTOFc.1811C>G (p.Ala604Gly)
c.1856C>G (p.Ala619Gly)
2g.26480304G>TCA346132339OTOFc.1811C>A (p.Ala604Glu)
c.1856C>A (p.Ala619Glu)
gnomAD v4
2g.26480305C>ACA346132347OTOFc.1810G>T (p.Ala604Ser)
c.1855G>T (p.Ala619Ser)
gnomAD v4
2g.26480305C>GCA346132350OTOFc.1810G>C (p.Ala604Pro)
c.1855G>C (p.Ala619Pro)
2g.26480305C>TCA346132353OTOFc.1810G>A (p.Ala604Thr)
c.1855G>A (p.Ala619Thr)
2g.26480306A>CCA346132356OTOFc.1809T>G (p.Cys603Trp)
c.1854T>G (p.Cys618Trp)
2g.26480306A>GCA425205573OTOFc.1809T>C (p.Cys603=)
c.1854T>C (p.Cys618=)
2g.26480306A>TCA346132357OTOFc.1809T>A (p.Cys603Ter)
c.1854T>A (p.Cys618Ter)
2g.26480307C>ACA346132360OTOFc.1808G>T (p.Cys603Phe)
c.1853G>T (p.Cys618Phe)
2g.26480307C>GCA346132365OTOFc.1808G>C (p.Cys603Ser)
c.1853G>C (p.Cys618Ser)
gnomAD v4
2g.26480307C>TCA346132363OTOFc.1808G>A (p.Cys603Tyr)
c.1853G>A (p.Cys618Tyr)
gnomAD v4
2g.26480308A>CCA346132387OTOFc.1807T>G (p.Cys603Gly)
c.1852T>G (p.Cys618Gly)
2g.26480308A>GCA346132391OTOFc.1807T>C (p.Cys603Arg)
c.1852T>C (p.Cys618Arg)
gnomAD v4
2g.26480308A>TCA346132394OTOFc.1807T>A (p.Cys603Ser)
c.1852T>A (p.Cys618Ser)
2g.26480309G>ACA425205579OTOFc.1806C>T (p.Ser602=)
c.1851C>T (p.Ser617=)
gnomAD v4
2g.26480309G>CCA346132397OTOFc.1806C>G (p.Ser602Arg)
c.1851C>G (p.Ser617Arg)
2g.26480309G>TCA346132398OTOFc.1806C>A (p.Ser602Arg)
c.1851C>A (p.Ser617Arg)
gnomAD v4
2g.26480310C>ACA346132399OTOFc.1805G>T (p.Ser602Ile)
c.1850G>T (p.Ser617Ile)
2g.26480310C>GCA346132402OTOFc.1805G>C (p.Ser602Thr)
c.1850G>C (p.Ser617Thr)
2g.26480310C>TCA346132405OTOFc.1805G>A (p.Ser602Asn)
c.1850G>A (p.Ser617Asn)
2g.26480311T>ACA346132408OTOFc.1804A>T (p.Ser602Cys)
c.1849A>T (p.Ser617Cys)
2g.26480311T>CCA346132410OTOFc.1804A>G (p.Ser602Gly)
c.1849A>G (p.Ser617Gly)
dbSNP
2g.26480311T>GCA346132415OTOFc.1804A>C (p.Ser602Arg)
c.1849A>C (p.Ser617Arg)
2g.26480311T=CA1239827234OTOFc.1804A= (p.Ser602=)
c.1849A= (p.Ser617=)
2g.26480312C>ACA346132427OTOFc.1804-1G>T (n.1804-1G>T)
c.1849-1G>T (n.1849-1G>T)
2g.26480312C>GCA346132422OTOFc.1804-1G>C (n.1804-1G>C)
c.1849-1G>C (n.1849-1G>C)
gnomAD v4
2g.26480312C>TCA346132420OTOFc.1804-1G>A (n.1804-1G>A)
c.1849-1G>A (n.1849-1G>A)
2g.26480313T>ACA346132432OTOFc.1804-2A>T (n.1804-2A>T)
c.1849-2A>T (n.1849-2A>T)
2g.26480313T>CCA346132436OTOFc.1804-2A>G (n.1804-2A>G)
c.1849-2A>G (n.1849-2A>G)
ClinVar dbSNP gnomAD v4
2g.26480313T>GCA346132435OTOFc.1804-2A>C (n.1804-2A>C)
c.1849-2A>C (n.1849-2A>C)
gnomAD v4
2g.26480313dupCA2658237956OTOFc.1804-2dup (n.1804-2dup)
c.1849-2dup (n.1849-2dup)
gnomAD v4
2g.26480314delCA2564215125OTOFc.1804-3del (n.1804-3del)
c.1849-3del (n.1849-3del)
gnomAD v4
2g.26480314G>TCA2658237957OTOFc.1804-3C>A (n.1804-3C>A)
c.1849-3C>A (n.1849-3C>A)
gnomAD v4
2g.26480315T>CCA2658237958OTOFc.1804-4A>G (n.1804-4A>G)
c.1849-4A>G (n.1849-4A>G)
ClinVar gnomAD v4
2g.26480316G>ACA44400814OTOFc.1804-5C>T (n.1804-5C>T)
c.1849-5C>T (n.1849-5C>T)
dbSNP gnomAD v4
2g.26480316G=CA1239827235OTOFc.1804-5C= (n.1804-5C=)
c.1849-5C= (n.1849-5C=)
2g.26480316G>TCA2658237959OTOFc.1804-5C>A (n.1804-5C>A)
c.1849-5C>A (n.1849-5C>A)
gnomAD v4
2g.26480319delCA2658237960OTOFc.1804-5del (n.1804-5del)
c.1849-5del (n.1849-5del)
gnomAD v4
2g.26480317G>CCA1239827238OTOFc.1804-6C>G (n.1804-6C>G)
c.1849-6C>G (n.1849-6C>G)
dbSNP
2g.26480317G=CA1239827237OTOFc.1804-6C= (n.1804-6C=)
c.1849-6C= (n.1849-6C=)
2g.26480317G>TCA1239827236OTOFc.1804-6C>A (n.1804-6C>A)
c.1849-6C>A (n.1849-6C>A)
dbSNP gnomAD v4
2g.26480318G>ACA2658237961OTOFc.1804-7C>T (n.1804-7C>T)
c.1849-7C>T (n.1849-7C>T)
ClinVar gnomAD v4
2g.26480318G>CCA531395539OTOFc.1804-7C>G (n.1804-7C>G)
c.1849-7C>G (n.1849-7C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480318G=CA1239827239OTOFc.1804-7C= (n.1804-7C=)
c.1849-7C= (n.1849-7C=)
2g.26480318G>TCA2658237962OTOFc.1804-7C>A (n.1804-7C>A)
c.1849-7C>A (n.1849-7C>A)
gnomAD v4
2g.26480319G>ACA2658237963OTOFc.1804-8C>T (n.1804-8C>T)
c.1849-8C>T (n.1849-8C>T)
ClinVar gnomAD v4
2g.26480319G>TCA2658237964OTOFc.1804-8C>A (n.1804-8C>A)
c.1849-8C>A (n.1849-8C>A)
gnomAD v4
2g.26480320A>GCA2658237965OTOFc.1804-9T>C (n.1804-9T>C)
c.1849-9T>C (n.1849-9T>C)
gnomAD v4
2g.26480321G>TCA2658237966OTOFc.1804-10C>A (n.1804-10C>A)
c.1849-10C>A (n.1849-10C>A)
gnomAD v4
2g.26480322G>ACA1239827241OTOFc.1804-11C>T (n.1804-11C>T)
c.1849-11C>T (n.1849-11C>T)
dbSNP gnomAD v4
2g.26480322G>CCA2658237967OTOFc.1804-11C>G (n.1804-11C>G)
c.1849-11C>G (n.1849-11C>G)
gnomAD v4
2g.26480322G=CA1239827240OTOFc.1804-11C= (n.1804-11C=)
c.1849-11C= (n.1849-11C=)
2g.26480322G>TCA2576699623OTOFc.1804-11C>A (n.1804-11C>A)
c.1849-11C>A (n.1849-11C>A)
gnomAD v4
2g.26480323C=CA1239827242OTOFc.1804-12G= (n.1804-12G=)
c.1849-12G= (n.1849-12G=)
2g.26480323C>TCA1028609433OTOFc.1804-12G>A (n.1804-12G>A)
c.1849-12G>A (n.1849-12G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26480324A>GCA2658237968OTOFc.1804-13T>C (n.1804-13T>C)
c.1849-13T>C (n.1849-13T>C)
gnomAD v4
2g.26480324A>TCA2576699624OTOFc.1804-13T>A (n.1804-13T>A)
c.1849-13T>A (n.1849-13T>A)
2g.26480325G>ACA2658237969OTOFc.1804-14C>T (n.1804-14C>T)
c.1849-14C>T (n.1849-14C>T)
gnomAD v4
2g.26480325G>TCA2576699625OTOFc.1804-14C>A (n.1804-14C>A)
c.1849-14C>A (n.1849-14C>A)
gnomAD v4
2g.26480326T>CCA2658237970OTOFc.1804-15A>G (n.1804-15A>G)
c.1849-15A>G (n.1849-15A>G)
gnomAD v4
2g.26480328C=CA1239827243OTOFc.1804-17G= (n.1804-17G=)
c.1849-17G= (n.1849-17G=)
2g.26480328C>TCA531395540OTOFc.1804-17G>A (n.1804-17G>A)
c.1849-17G>A (n.1849-17G>A)
dbSNP gnomAD v2 gnomAD v4
2g.26480329A>GCA2658237971OTOFc.1804-18T>C (n.1804-18T>C)
c.1849-18T>C (n.1849-18T>C)
gnomAD v4
2g.26480330A>GCA2658237972OTOFc.1804-19T>C (n.1804-19T>C)
c.1849-19T>C (n.1849-19T>C)
gnomAD v4
2g.26480331A=CA1239827244OTOFc.1804-20T= (n.1804-20T=)
c.1849-20T= (n.1849-20T=)
2g.26480331A>CCA2658237973OTOFc.1804-20T>G (n.1804-20T>G)
c.1849-20T>G (n.1849-20T>G)
gnomAD v4
2g.26480331A>GCA531395543OTOFc.1804-20T>C (n.1804-20T>C)
c.1849-20T>C (n.1849-20T>C)
dbSNP gnomAD v2 gnomAD v4
2g.26480331A>TCA1564164OTOFc.1804-20T>A (n.1804-20T>A)
c.1849-20T>A (n.1849-20T>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480332G>ACA1028609438OTOFc.1804-21C>T (n.1804-21C>T)
c.1849-21C>T (n.1849-21C>T)
dbSNP gnomAD v3 gnomAD v4
2g.26480332G=CA1239827247OTOFc.1804-21C= (n.1804-21C=)
c.1849-21C= (n.1849-21C=)
2g.26480332G>TCA2576699626OTOFc.1804-21C>A (n.1804-21C>A)
c.1849-21C>A (n.1849-21C>A)
gnomAD v4
2g.26480333C>ACA531395546OTOFc.1804-22G>T (n.1804-22G>T)
c.1849-22G>T (n.1849-22G>T)
dbSNP gnomAD v2 gnomAD v4
2g.26480333C=CA1239827248OTOFc.1804-22G= (n.1804-22G=)
c.1849-22G= (n.1849-22G=)
2g.26480333C>TCA1564165OTOFc.1804-22G>A (n.1804-22G>A)
c.1849-22G>A (n.1849-22G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480334G>ACA1564166OTOFc.1804-23C>T (n.1804-23C>T)
c.1849-23C>T (n.1849-23C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480334G=CA1239827249OTOFc.1804-23C= (n.1804-23C=)
c.1849-23C= (n.1849-23C=)
2g.26480334G>TCA2576699627OTOFc.1804-23C>A (n.1804-23C>A)
c.1849-23C>A (n.1849-23C>A)
gnomAD v4
2g.26480335T>CCA1564167OTOFc.1804-24A>G (n.1804-24A>G)
c.1849-24A>G (n.1849-24A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480335T=CA1239827250OTOFc.1804-24A= (n.1804-24A=)
c.1849-24A= (n.1849-24A=)
2g.26480337C>ACA2576699628OTOFc.1804-26G>T (n.1804-26G>T)
c.1849-26G>T (n.1849-26G>T)
2g.26480337C>TCA2658237974OTOFc.1804-26G>A (n.1804-26G>A)
c.1849-26G>A (n.1849-26G>A)
gnomAD v4
2g.26480338C>ACA2576699629OTOFc.1804-27G>T (n.1804-27G>T)
c.1849-27G>T (n.1849-27G>T)
2g.26480338C=CA1239827251OTOFc.1804-27G= (n.1804-27G=)
c.1849-27G= (n.1849-27G=)
2g.26480338C>TCA531395552OTOFc.1804-27G>A (n.1804-27G>A)
c.1849-27G>A (n.1849-27G>A)
dbSNP gnomAD v2 gnomAD v4
2g.26480339T>CCA1564168OTOFc.1804-28A>G (n.1804-28A>G)
c.1849-28A>G (n.1849-28A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480339T=CA1239827253OTOFc.1804-28A= (n.1804-28A=)
c.1849-28A= (n.1849-28A=)
2g.26480340G>TCA2658237975OTOFc.1804-29C>A (n.1804-29C>A)
c.1849-29C>A (n.1849-29C>A)
gnomAD v4
2g.26480341A>CCA2658237976OTOFc.1804-30T>G (n.1804-30T>G)
c.1849-30T>G (n.1849-30T>G)
gnomAD v4
2g.26480342G>TCA2658237977OTOFc.1804-31C>A (n.1804-31C>A)
c.1849-31C>A (n.1849-31C>A)
gnomAD v4
2g.26480343C>ACA2576699630OTOFc.1804-32G>T (n.1804-32G>T)
c.1849-32G>T (n.1849-32G>T)
2g.26480343C=CA1239827254OTOFc.1804-32G= (n.1804-32G=)
c.1849-32G= (n.1849-32G=)
2g.26480343C>TCA1564169OTOFc.1804-32G>A (n.1804-32G>A)
c.1849-32G>A (n.1849-32G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480344T>ACA2576699631OTOFc.1804-33A>T (n.1804-33A>T)
c.1849-33A>T (n.1849-33A>T)
2g.26480346G>CCA1239827256OTOFc.1804-35C>G (n.1804-35C>G)
c.1849-35C>G (n.1849-35C>G)
dbSNP gnomAD v4
2g.26480346G=CA1239827255OTOFc.1804-35C= (n.1804-35C=)
c.1849-35C= (n.1849-35C=)
2g.26480346G>TCA2658237978OTOFc.1804-35C>A (n.1804-35C>A)
c.1849-35C>A (n.1849-35C>A)
gnomAD v4
2g.26480347A>GCA2658237979OTOFc.1804-36T>C (n.1804-36T>C)
c.1849-36T>C (n.1849-36T>C)
gnomAD v4
2g.26480347A>TCA2576699632OTOFc.1804-36T>A (n.1804-36T>A)
c.1849-36T>A (n.1849-36T>A)
2g.26480347_26480348delinsAGCA1239827257OTOFc.1804-37_1804-36delinsCT (n.1804-37_1804-36delinsCT)
c.1849-37_1849-36delinsCT (n.1849-37_1849-36delinsCT)
2g.26480348delCA1564170OTOFc.1804-37del (n.1804-37del)
c.1849-37del (n.1849-37del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480348G>TCA2658237980OTOFc.1804-37C>A (n.1804-37C>A)
c.1849-37C>A (n.1849-37C>A)
gnomAD v4
2g.26480349T>ACA2576699633OTOFc.1804-38A>T (n.1804-38A>T)
c.1849-38A>T (n.1849-38A>T)
gnomAD v4
2g.26480351delCA2658237981OTOFc.1804-39del (n.1804-39del)
c.1849-39del (n.1849-39del)
gnomAD v4
2g.26480351A=CA1239827259OTOFc.1804-40T= (n.1804-40T=)
c.1849-40T= (n.1849-40T=)
2g.26480351A>CCA2658237982OTOFc.1804-40T>G (n.1804-40T>G)
c.1849-40T>G (n.1849-40T>G)
gnomAD v4
2g.26480351A>GCA1564171OTOFc.1804-40T>C (n.1804-40T>C)
c.1849-40T>C (n.1849-40T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480352G>ACA2749240760OTOFc.1804-41C>T (n.1804-41C>T)
c.1849-41C>T (n.1849-41C>T)
2g.26480352G>TCA2658237984OTOFc.1804-41C>A (n.1804-41C>A)
c.1849-41C>A (n.1849-41C>A)
gnomAD v4
2g.26480358_26480408delCA2658237983OTOFc.1804-91_1804-41del (n.1804-91_1804-41del)
c.1849-91_1849-41del (n.1849-91_1849-41del)
gnomAD v4
2g.26480353G>ACA2576699634OTOFc.1804-42C>T (n.1804-42C>T)
c.1849-42C>T (n.1849-42C>T)
gnomAD v4
2g.26480353G>CCA1564172OTOFc.1804-42C>G (n.1804-42C>G)
c.1849-42C>G (n.1849-42C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480353G=CA1239827260OTOFc.1804-42C= (n.1804-42C=)
c.1849-42C= (n.1849-42C=)

Number of alleles fetched