Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26480783_26480805dupCA1239827691OTOFc.1786_1803+5dup
c.1831_1848+5dup
 dbSNP gnomAD v4
2g.26480784_26480785delinsACCA1239827694OTOFc.1803+1_1803+2delinsGT (n.1803+1_1803+2delinsGT)
c.1848+1_1848+2delinsGT (n.1848+1_1848+2delinsGT)
2g.26480785C>ACA346132521OTOFc.1803+1G>T (n.1803+1G>T)
c.1848+1G>T (n.1848+1G>T)
2g.26480785C>GCA346132523OTOFc.1803+1G>C (n.1803+1G>C)
c.1848+1G>C (n.1848+1G>C)
2g.26480785C>TCA346132526OTOFc.1803+1G>A (n.1803+1G>A)
c.1848+1G>A (n.1848+1G>A)
 ClinVar dbSNP gnomAD v4
2g.26480786delCA767288499OTOFc.1803+1del
c.1848+1del
 dbSNP gnomAD v3 gnomAD v4
2g.26480786C>ACA346132528OTOFc.1803G>T (p.Glu601Asp)
c.1848G>T (p.Glu616Asp)
2g.26480786C>GCA346132530OTOFc.1803G>C (p.Glu601Asp)
c.1848G>C (p.Glu616Asp)
2g.26480786C>TCA425205810OTOFc.1803G>A (p.Glu601=)
c.1848G>A (p.Glu616=)
 gnomAD v4
2g.26480787T>ACA346132533OTOFc.1802A>T (p.Glu601Val)
c.1847A>T (p.Glu616Val)
2g.26480787T>CCA346132535OTOFc.1802A>G (p.Glu601Gly)
c.1847A>G (p.Glu616Gly)
2g.26480787T>GCA346132536OTOFc.1802A>C (p.Glu601Ala)
c.1847A>C (p.Glu616Ala)
2g.26480788C>ACA346132538OTOFc.1801G>T (p.Glu601Ter)
c.1846G>T (p.Glu616Ter)
 ClinVar dbSNP
2g.26480788C=CA1239827696OTOFc.1801G= (p.Glu601=)
c.1846G= (p.Glu616=)
2g.26480788C>GCA346132540OTOFc.1801G>C (p.Glu601Gln)
c.1846G>C (p.Glu616Gln)
2g.26480788C>TCA346132542OTOFc.1801G>A (p.Glu601Lys)
c.1846G>A (p.Glu616Lys)
 COSMIC
2g.26480789C>ACA425205818OTOFc.1800G>T (p.Ser600=)
c.1845G>T (p.Ser615=)
 gnomAD v4
2g.26480789C=CA1239827697OTOFc.1800G= (p.Ser600=)
c.1845G= (p.Ser615=)
2g.26480789C>GCA425205820OTOFc.1800G>C (p.Ser600=)
c.1845G>C (p.Ser615=)
2g.26480789C>TCA142764OTOFc.1800G>A (p.Ser600=)
c.1845G>A (p.Ser615=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26480790G>ACA1564179OTOFc.1799C>T (p.Ser600Leu)
c.1844C>T (p.Ser615Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480790G>CCA346132548OTOFc.1799C>G (p.Ser600Trp)
c.1844C>G (p.Ser615Trp)
2g.26480790G=CA1239827700OTOFc.1799C= (p.Ser600=)
c.1844C= (p.Ser615=)
2g.26480790G>TCA346132551OTOFc.1799C>A (p.Ser600Ter)
c.1844C>A (p.Ser615Ter)
 dbSNP gnomAD v4
2g.26480791A=CA1239827702OTOFc.1798T= (p.Ser600=)
c.1843T= (p.Ser615=)
2g.26480791A>CCA346132554OTOFc.1798T>G (p.Ser600Ala)
c.1843T>G (p.Ser615Ala)
2g.26480791A>GCA346132556OTOFc.1798T>C (p.Ser600Pro)
c.1843T>C (p.Ser615Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.26480791A>TCA346132558OTOFc.1798T>A (p.Ser600Thr)
c.1843T>A (p.Ser615Thr)
2g.26480792G>ACA425205827OTOFc.1797C>T (p.Ile599=)
c.1842C>T (p.Ile614=)
2g.26480792G>CCA346132560OTOFc.1797C>G (p.Ile599Met)
c.1842C>G (p.Ile614Met)
2g.26480792G>TCA425205831OTOFc.1797C>A (p.Ile599=)
c.1842C>A (p.Ile614=)
2g.26480793A>CCA346132568OTOFc.1796T>G (p.Ile599Ser)
c.1841T>G (p.Ile614Ser)
2g.26480793A>GCA346132564OTOFc.1796T>C (p.Ile599Thr)
c.1841T>C (p.Ile614Thr)
2g.26480793A>TCA346132567OTOFc.1796T>A (p.Ile599Asn)
c.1841T>A (p.Ile614Asn)
2g.26480794T>ACA1564180OTOFc.1795A>T (p.Ile599Phe)
c.1840A>T (p.Ile614Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480794T>CCA346132569OTOFc.1795A>G (p.Ile599Val)
c.1840A>G (p.Ile614Val)
2g.26480794T>GCA346132570OTOFc.1795A>C (p.Ile599Leu)
c.1840A>C (p.Ile614Leu)
 gnomAD v4
2g.26480794T=CA1239827703OTOFc.1795A= (p.Ile599=)
c.1840A= (p.Ile614=)
2g.26480795G>ACA425205834OTOFc.1794C>T (p.Pro598=)
c.1839C>T (p.Pro613=)
 gnomAD v4
2g.26480795G>CCA425205835OTOFc.1794C>G (p.Pro598=)
c.1839C>G (p.Pro613=)
 gnomAD v4
2g.26480795G>TCA425205836OTOFc.1794C>A (p.Pro598=)
c.1839C>A (p.Pro613=)
 gnomAD v4
2g.26480796G>ACA346132573OTOFc.1793C>T (p.Pro598Leu)
c.1838C>T (p.Pro613Leu)
2g.26480796G>CCA346132575OTOFc.1793C>G (p.Pro598Arg)
c.1838C>G (p.Pro613Arg)
2g.26480796G>TCA346132577OTOFc.1793C>A (p.Pro598His)
c.1838C>A (p.Pro613His)
2g.26480797G>ACA346132580OTOFc.1792C>T (p.Pro598Ser)
c.1837C>T (p.Pro613Ser)
 gnomAD v4
2g.26480797G>CCA346132585OTOFc.1792C>G (p.Pro598Ala)
c.1837C>G (p.Pro613Ala)
2g.26480797G=CA1239827705OTOFc.1792C= (p.Pro598=)
c.1837C= (p.Pro613=)
2g.26480797G>TCA346132583OTOFc.1792C>A (p.Pro598Thr)
c.1837C>A (p.Pro613Thr)
 dbSNP
2g.26480798C>ACA425205845OTOFc.1791G>T (p.Thr597=)
c.1836G>T (p.Thr612=)
 ClinVar gnomAD v4
2g.26480798C=CA1239827707OTOFc.1791G= (p.Thr597=)
c.1836G= (p.Thr612=)
2g.26480798C>GCA425205846OTOFc.1791G>C (p.Thr597=)
c.1836G>C (p.Thr612=)
2g.26480798C>TCA1564181OTOFc.1791G>A (p.Thr597=)
c.1836G>A (p.Thr612=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480799G>ACA1564182OTOFc.1790C>T (p.Thr597Met)
c.1835C>T (p.Thr612Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480799G>CCA346132596OTOFc.1790C>G (p.Thr597Arg)
c.1835C>G (p.Thr612Arg)
2g.26480799G=CA1239827709OTOFc.1790C= (p.Thr597=)
c.1835C= (p.Thr612=)
2g.26480799G>TCA346132602OTOFc.1790C>A (p.Thr597Lys)
c.1835C>A (p.Thr612Lys)
2g.26480800T>ACA346132606OTOFc.1789A>T (p.Thr597Ser)
c.1834A>T (p.Thr612Ser)
2g.26480800T>CCA346132613OTOFc.1789A>G (p.Thr597Ala)
c.1834A>G (p.Thr612Ala)
 dbSNP
2g.26480800T>GCA346132610OTOFc.1789A>C (p.Thr597Pro)
c.1834A>C (p.Thr612Pro)
2g.26480800T=CA1239827710OTOFc.1789A= (p.Thr597=)
c.1834A= (p.Thr612=)
2g.26480801G>ACA1564183OTOFc.1788C>T (p.Ala596=)
c.1833C>T (p.Ala611=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480801G>CCA425205853OTOFc.1788C>G (p.Ala596=)
c.1833C>G (p.Ala611=)
2g.26480801G=CA1239827712OTOFc.1788C= (p.Ala596=)
c.1833C= (p.Ala611=)
2g.26480801G>TCA425205854OTOFc.1788C>A (p.Ala596=)
c.1833C>A (p.Ala611=)
2g.26480802G>ACA346132620OTOFc.1787C>T (p.Ala596Val)
c.1832C>T (p.Ala611Val)
2g.26480802G>CCA346132623OTOFc.1787C>G (p.Ala596Gly)
c.1832C>G (p.Ala611Gly)
2g.26480802G>TCA346132628OTOFc.1787C>A (p.Ala596Asp)
c.1832C>A (p.Ala611Asp)
 gnomAD v4
2g.26480803C>ACA346132632OTOFc.1786G>T (p.Ala596Ser)
c.1831G>T (p.Ala611Ser)
 gnomAD v4
2g.26480803C>GCA346132636OTOFc.1786G>C (p.Ala596Pro)
c.1831G>C (p.Ala611Pro)
2g.26480803C>TCA346132641OTOFc.1786G>A (p.Ala596Thr)
c.1831G>A (p.Ala611Thr)
 gnomAD v4
2g.26480804C>ACA346132644OTOFc.1785G>T (p.Gln595His)
c.1830G>T (p.Gln610His)
2g.26480804C>GCA346132645OTOFc.1785G>C (p.Gln595His)
c.1830G>C (p.Gln610His)
2g.26480804C>TCA425205858OTOFc.1785G>A (p.Gln595=)
c.1830G>A (p.Gln610=)
2g.26480805T>ACA346132647OTOFc.1784A>T (p.Gln595Leu)
c.1829A>T (p.Gln610Leu)
2g.26480805T>CCA346132649OTOFc.1784A>G (p.Gln595Arg)
c.1829A>G (p.Gln610Arg)
 COSMIC
2g.26480805T>GCA346132653OTOFc.1784A>C (p.Gln595Pro)
c.1829A>C (p.Gln610Pro)
2g.26480806G>ACA346132657OTOFc.1783C>T (p.Gln595Ter)
c.1828C>T (p.Gln610Ter)
2g.26480806G>CCA346132664OTOFc.1783C>G (p.Gln595Glu)
c.1828C>G (p.Gln610Glu)
2g.26480806G>TCA346132660OTOFc.1783C>A (p.Gln595Lys)
c.1828C>A (p.Gln610Lys)
2g.26480807C>ACA346132667OTOFc.1782G>T (p.Glu594Asp)
c.1827G>T (p.Glu609Asp)
2g.26480807C>GCA346132669OTOFc.1782G>C (p.Glu594Asp)
c.1827G>C (p.Glu609Asp)
2g.26480807C>TCA425205861OTOFc.1782G>A (p.Glu594=)
c.1827G>A (p.Glu609=)
 ClinVar gnomAD v4
2g.26480808T>ACA346132673OTOFc.1781A>T (p.Glu594Val)
c.1826A>T (p.Glu609Val)
2g.26480808T>CCA346132676OTOFc.1781A>G (p.Glu594Gly)
c.1826A>G (p.Glu609Gly)
 gnomAD v4
2g.26480808T>GCA346132679OTOFc.1781A>C (p.Glu594Ala)
c.1826A>C (p.Glu609Ala)
2g.26480809C>ACA346132683OTOFc.1780G>T (p.Glu594Ter)
c.1825G>T (p.Glu609Ter)
2g.26480809C=CA1239827714OTOFc.1780G= (p.Glu594=)
c.1825G= (p.Glu609=)
2g.26480809C>GCA346132686OTOFc.1780G>C (p.Glu594Gln)
c.1825G>C (p.Glu609Gln)
2g.26480809C>TCA345096OTOFc.1780G>A (p.Glu594Lys)
c.1825G>A (p.Glu609Lys)
 ClinVar dbSNP gnomAD v4
2g.26480810C>ACA425205866OTOFc.1779G>T (p.Val593=)
c.1824G>T (p.Val608=)
2g.26480810C=CA1239827717OTOFc.1779G= (p.Val593=)
c.1824G= (p.Val608=)
2g.26480810C>GCA425205868OTOFc.1779G>C (p.Val593=)
c.1824G>C (p.Val608=)
2g.26480810C>TCA1564184OTOFc.1779G>A (p.Val593=)
c.1824G>A (p.Val608=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480811A=CA1239827718OTOFc.1778T= (p.Val593=)
c.1823T= (p.Val608=)
2g.26480811A>CCA346132701OTOFc.1778T>G (p.Val593Gly)
c.1823T>G (p.Val608Gly)
2g.26480811A>GCA346132707OTOFc.1778T>C (p.Val593Ala)
c.1823T>C (p.Val608Ala)
2g.26480811A>TCA346132711OTOFc.1778T>A (p.Val593Glu)
c.1823T>A (p.Val608Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.26480812C>ACA346132724OTOFc.1777G>T (p.Val593Leu)
c.1822G>T (p.Val608Leu)
2g.26480812C>GCA346132720OTOFc.1777G>C (p.Val593Leu)
c.1822G>C (p.Val608Leu)
2g.26480812C>TCA346132716OTOFc.1777G>A (p.Val593Met)
c.1822G>A (p.Val608Met)
 gnomAD v4
2g.26480813C>ACA346132729OTOFc.1776G>T (p.Gln592His)
c.1821G>T (p.Gln607His)
2g.26480813C=CA1239827720OTOFc.1776G= (p.Gln592=)
c.1821G= (p.Gln607=)
2g.26480813C>GCA346132732OTOFc.1776G>C (p.Gln592His)
c.1821G>C (p.Gln607His)
2g.26480813C>TCA425205873OTOFc.1776G>A (p.Gln592=)
c.1821G>A (p.Gln607=)
 dbSNP gnomAD v2 gnomAD v4
2g.26480814T>ACA346132738OTOFc.1775A>T (p.Gln592Leu)
c.1820A>T (p.Gln607Leu)
2g.26480814T>CCA346132755OTOFc.1775A>G (p.Gln592Arg)
c.1820A>G (p.Gln607Arg)
2g.26480814T>GCA346132759OTOFc.1775A>C (p.Gln592Pro)
c.1820A>C (p.Gln607Pro)
2g.26480815G>ACA346132762OTOFc.1774C>T (p.Gln592Ter)
c.1819C>T (p.Gln607Ter)
 gnomAD v4
2g.26480815G>CCA346132765OTOFc.1774C>G (p.Gln592Glu)
c.1819C>G (p.Gln607Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.26480815G=CA1239827721OTOFc.1774C= (p.Gln592=)
c.1819C= (p.Gln607=)
2g.26480815G>TCA346132766OTOFc.1774C>A (p.Gln592Lys)
c.1819C>A (p.Gln607Lys)
2g.26480816C>ACA1564185OTOFc.1773G>T (p.Val591=)
c.1818G>T (p.Val606=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480816C=CA1239827723OTOFc.1773G= (p.Val591=)
c.1818G= (p.Val606=)
2g.26480816C>GCA425205876OTOFc.1773G>C (p.Val591=)
c.1818G>C (p.Val606=)
2g.26480816C>TCA425205878OTOFc.1773G>A (p.Val591=)
c.1818G>A (p.Val606=)
 gnomAD v4
2g.26480817A>CCA346132770OTOFc.1772T>G (p.Val591Gly)
c.1817T>G (p.Val606Gly)
2g.26480817A>GCA346132773OTOFc.1772T>C (p.Val591Ala)
c.1817T>C (p.Val606Ala)
2g.26480817A>TCA346132776OTOFc.1772T>A (p.Val591Glu)
c.1817T>A (p.Val606Glu)
 gnomAD v4
2g.26480818C>ACA346132788OTOFc.1771G>T (p.Val591Leu)
c.1816G>T (p.Val606Leu)
 dbSNP
2g.26480818C=CA1239827725OTOFc.1771G= (p.Val591=)
c.1816G= (p.Val606=)
2g.26480818C>GCA346132782OTOFc.1771G>C (p.Val591Leu)
c.1816G>C (p.Val606Leu)
2g.26480818C>TCA346132783OTOFc.1771G>A (p.Val591Met)
c.1816G>A (p.Val606Met)
 dbSNP gnomAD v2 gnomAD v4
2g.26480819C>ACA346132793OTOFc.1770G>T (p.Glu590Asp)
c.1815G>T (p.Glu605Asp)
2g.26480819C>GCA346132795OTOFc.1770G>C (p.Glu590Asp)
c.1815G>C (p.Glu605Asp)
2g.26480819C>TCA425205882OTOFc.1770G>A (p.Glu590=)
c.1815G>A (p.Glu605=)
2g.26480820T>ACA346132800OTOFc.1769A>T (p.Glu590Val)
c.1814A>T (p.Glu605Val)
2g.26480820T>CCA346132804OTOFc.1769A>G (p.Glu590Gly)
c.1814A>G (p.Glu605Gly)
2g.26480820T>GCA346132806OTOFc.1769A>C (p.Glu590Ala)
c.1814A>C (p.Glu605Ala)
2g.26480821C>ACA346132812OTOFc.1768G>T (p.Glu590Ter)
c.1813G>T (p.Glu605Ter)
2g.26480821C=CA1239827728OTOFc.1768G= (p.Glu590=)
c.1813G= (p.Glu605=)
2g.26480821C>GCA346132814OTOFc.1768G>C (p.Glu590Gln)
c.1813G>C (p.Glu605Gln)
 dbSNP
2g.26480821C>TCA1564186OTOFc.1768G>A (p.Glu590Lys)
c.1813G>A (p.Glu605Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480822T>ACA425205885OTOFc.1767A>T (p.Thr589=)
c.1812A>T (p.Thr604=)
2g.26480822T>CCA425205886OTOFc.1767A>G (p.Thr589=)
c.1812A>G (p.Thr604=)
2g.26480822T>GCA425205887OTOFc.1767A>C (p.Thr589=)
c.1812A>C (p.Thr604=)
 dbSNP gnomAD v4
2g.26480822T=CA1239827729OTOFc.1767A= (p.Thr589=)
c.1812A= (p.Thr604=)
2g.26480823G>ACA346132827OTOFc.1766C>T (p.Thr589Ile)
c.1811C>T (p.Thr604Ile)
2g.26480823G>CCA346132831OTOFc.1766C>G (p.Thr589Arg)
c.1811C>G (p.Thr604Arg)
2g.26480823G>TCA346132835OTOFc.1766C>A (p.Thr589Lys)
c.1811C>A (p.Thr604Lys)
2g.26480824T>ACA346132843OTOFc.1765A>T (p.Thr589Ser)
c.1810A>T (p.Thr604Ser)
2g.26480824T>CCA346132846OTOFc.1765A>G (p.Thr589Ala)
c.1810A>G (p.Thr604Ala)
 dbSNP COSMIC
2g.26480824T>GCA346132851OTOFc.1765A>C (p.Thr589Pro)
c.1810A>C (p.Thr604Pro)
2g.26480824T=CA1239827731OTOFc.1765A= (p.Thr589=)
c.1810A= (p.Thr604=)
2g.26480825G>ACA425205889OTOFc.1764C>T (p.Ser588=)
c.1809C>T (p.Ser603=)
2g.26480825G>CCA425205892OTOFc.1764C>G (p.Ser588=)
c.1809C>G (p.Ser603=)
2g.26480825G>TCA425205891OTOFc.1764C>A (p.Ser588=)
c.1809C>A (p.Ser603=)
 COSMIC
2g.26480826G>ACA346132865OTOFc.1763C>T (p.Ser588Phe)
c.1808C>T (p.Ser603Phe)
 dbSNP gnomAD v4
2g.26480826G>CCA346132860OTOFc.1763C>G (p.Ser588Cys)
c.1808C>G (p.Ser603Cys)
2g.26480826G=CA1239827733OTOFc.1763C= (p.Ser588=)
c.1808C= (p.Ser603=)
2g.26480826G>TCA346132856OTOFc.1763C>A (p.Ser588Tyr)
c.1808C>A (p.Ser603Tyr)
2g.26480827A>CCA346132870OTOFc.1762T>G (p.Ser588Ala)
c.1807T>G (p.Ser603Ala)
2g.26480827A>GCA346132872OTOFc.1762T>C (p.Ser588Pro)
c.1807T>C (p.Ser603Pro)
2g.26480827A>TCA346132875OTOFc.1762T>A (p.Ser588Thr)
c.1807T>A (p.Ser603Thr)
 gnomAD v4
2g.26480828G>ACA425205897OTOFc.1761C>T (p.Ser587=)
c.1806C>T (p.Ser602=)
2g.26480828G>CCA346132880OTOFc.1761C>G (p.Ser587Arg)
c.1806C>G (p.Ser602Arg)
2g.26480828G=CA1239827735OTOFc.1761C= (p.Ser587=)
c.1806C= (p.Ser602=)
2g.26480828G>TCA346132884OTOFc.1761C>A (p.Ser587Arg)
c.1806C>A (p.Ser602Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.26480829C>ACA346132891OTOFc.1760G>T (p.Ser587Ile)
c.1805G>T (p.Ser602Ile)
2g.26480829C=CA1239827737OTOFc.1760G= (p.Ser587=)
c.1805G= (p.Ser602=)
2g.26480829C>GCA346132895OTOFc.1760G>C (p.Ser587Thr)
c.1805G>C (p.Ser602Thr)
 dbSNP
2g.26480829C>TCA346132898OTOFc.1760G>A (p.Ser587Asn)
c.1805G>A (p.Ser602Asn)
 gnomAD v4
2g.26480830T>ACA346132906OTOFc.1759A>T (p.Ser587Cys)
c.1804A>T (p.Ser602Cys)
 dbSNP gnomAD v4
2g.26480830T>CCA346132909OTOFc.1759A>G (p.Ser587Gly)
c.1804A>G (p.Ser602Gly)
2g.26480830T>GCA346132928OTOFc.1759A>C (p.Ser587Arg)
c.1804A>C (p.Ser602Arg)
2g.26480830T=CA1239827739OTOFc.1759A= (p.Ser587=)
c.1804A= (p.Ser602=)
2g.26480831G>ACA425205899OTOFc.1758C>T (p.Thr586=)
c.1803C>T (p.Thr601=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26480831G>CCA425205900OTOFc.1758C>G (p.Thr586=)
c.1803C>G (p.Thr601=)
2g.26480831G=CA1239827741OTOFc.1758C= (p.Thr586=)
c.1803C= (p.Thr601=)
2g.26480831G>TCA425205902OTOFc.1758C>A (p.Thr586=)
c.1803C>A (p.Thr601=)
2g.26480832G>ACA346132933OTOFc.1757C>T (p.Thr586Ile)
c.1802C>T (p.Thr601Ile)
2g.26480832G>CCA346132936OTOFc.1757C>G (p.Thr586Ser)
c.1802C>G (p.Thr601Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.26480832G=CA1239827742OTOFc.1757C= (p.Thr586=)
c.1802C= (p.Thr601=)
2g.26480832G>TCA346132939OTOFc.1757C>A (p.Thr586Asn)
c.1802C>A (p.Thr601Asn)
 gnomAD v4
2g.26480833T>ACA346132948OTOFc.1756A>T (p.Thr586Ser)
c.1801A>T (p.Thr601Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.26480833T>CCA346132950OTOFc.1756A>G (p.Thr586Ala)
c.1801A>G (p.Thr601Ala)
 dbSNP gnomAD v4
2g.26480833T>GCA346132944OTOFc.1756A>C (p.Thr586Pro)
c.1801A>C (p.Thr601Pro)
 gnomAD v4
2g.26480833T=CA1239827743OTOFc.1756A= (p.Thr586=)
c.1801A= (p.Thr601=)
2g.26480834G>ACA425205906OTOFc.1755C>T (p.Leu585=)
c.1800C>T (p.Leu600=)
2g.26480834G>CCA425205907OTOFc.1755C>G (p.Leu585=)
c.1800C>G (p.Leu600=)
2g.26480834G>TCA425205909OTOFc.1755C>A (p.Leu585=)
c.1800C>A (p.Leu600=)
2g.26480835A>CCA346132954OTOFc.1754T>G (p.Leu585Arg)
c.1799T>G (p.Leu600Arg)
2g.26480835A>GCA346132956OTOFc.1754T>C (p.Leu585Pro)
c.1799T>C (p.Leu600Pro)
2g.26480835A>TCA346132959OTOFc.1754T>A (p.Leu585His)
c.1799T>A (p.Leu600His)
2g.26480836G>ACA346132962OTOFc.1753C>T (p.Leu585Phe)
c.1798C>T (p.Leu600Phe)
2g.26480836G>CCA44400977OTOFc.1753C>G (p.Leu585Val)
c.1798C>G (p.Leu600Val)
 dbSNP
2g.26480836G=CA1239827745OTOFc.1753C= (p.Leu585=)
c.1798C= (p.Leu600=)
2g.26480836G>TCA346132966OTOFc.1753C>A (p.Leu585Ile)
c.1798C>A (p.Leu600Ile)
2g.26480837C>ACA346132971OTOFc.1752G>T (p.Glu584Asp)
c.1797G>T (p.Glu599Asp)
2g.26480837C>GCA346132969OTOFc.1752G>C (p.Glu584Asp)
c.1797G>C (p.Glu599Asp)
2g.26480837C>TCA425205913OTOFc.1752G>A (p.Glu584=)
c.1797G>A (p.Glu599=)
2g.26480838T>ACA346132981OTOFc.1751A>T (p.Glu584Val)
c.1796A>T (p.Glu599Val)
2g.26480838T>CCA346132984OTOFc.1751A>G (p.Glu584Gly)
c.1796A>G (p.Glu599Gly)
2g.26480838T>GCA346132986OTOFc.1751A>C (p.Glu584Ala)
c.1796A>C (p.Glu599Ala)
2g.26480839C>ACA346132989OTOFc.1750G>T (p.Glu584Ter)
c.1795G>T (p.Glu599Ter)
2g.26480839C=CA1239827746OTOFc.1750G= (p.Glu584=)
c.1795G= (p.Glu599=)
2g.26480839C>GCA346132991OTOFc.1750G>C (p.Glu584Gln)
c.1795G>C (p.Glu599Gln)
2g.26480839C>TCA1564187OTOFc.1750G>A (p.Glu584Lys)
c.1795G>A (p.Glu599Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480840A>CCA425205918OTOFc.1749T>G (p.Pro583=)
c.1794T>G (p.Pro598=)
2g.26480840A>GCA425205919OTOFc.1749T>C (p.Pro583=)
c.1794T>C (p.Pro598=)
 gnomAD v4
2g.26480840A>TCA425205920OTOFc.1749T>A (p.Pro583=)
c.1794T>A (p.Pro598=)
2g.26480841G>ACA346132996OTOFc.1748C>T (p.Pro583Leu)
c.1793C>T (p.Pro598Leu)
2g.26480841G>CCA346133001OTOFc.1748C>G (p.Pro583Arg)
c.1793C>G (p.Pro598Arg)
2g.26480841G>TCA346132999OTOFc.1748C>A (p.Pro583His)
c.1793C>A (p.Pro598His)
 gnomAD v4
2g.26480842G>ACA346133005OTOFc.1747C>T (p.Pro583Ser)
c.1792C>T (p.Pro598Ser)
 COSMIC
2g.26480842G>CCA1564188OTOFc.1747C>G (p.Pro583Ala)
c.1792C>G (p.Pro598Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480842G=CA1239827748OTOFc.1747C= (p.Pro583=)
c.1792C= (p.Pro598=)
2g.26480842G>TCA346133007OTOFc.1747C>A (p.Pro583Thr)
c.1792C>A (p.Pro598Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480843G>ACA425205924OTOFc.1746C>T (p.Asn582=)
c.1791C>T (p.Asn597=)
 ClinVar
2g.26480843G>CCA346133008OTOFc.1746C>G (p.Asn582Lys)
c.1791C>G (p.Asn597Lys)
2g.26480843G>TCA346133009OTOFc.1746C>A (p.Asn582Lys)
c.1791C>A (p.Asn597Lys)
2g.26480844T>ACA346133011OTOFc.1745A>T (p.Asn582Ile)
c.1790A>T (p.Asn597Ile)
2g.26480844T>CCA346133014OTOFc.1745A>G (p.Asn582Ser)
c.1790A>G (p.Asn597Ser)
 gnomAD v4
2g.26480844T>GCA346133016OTOFc.1745A>C (p.Asn582Thr)
c.1790A>C (p.Asn597Thr)
2g.26480845T>ACA346133020OTOFc.1744A>T (p.Asn582Tyr)
c.1789A>T (p.Asn597Tyr)
2g.26480845T>CCA346133022OTOFc.1744A>G (p.Asn582Asp)
c.1789A>G (p.Asn597Asp)
2g.26480845T>GCA346133024OTOFc.1744A>C (p.Asn582His)
c.1789A>C (p.Asn597His)
2g.26480846G>ACA425205929OTOFc.1743C>T (p.Ser581=)
c.1788C>T (p.Ser596=)
2g.26480846G>CCA425205930OTOFc.1743C>G (p.Ser581=)
c.1788C>G (p.Ser596=)
2g.26480846G>TCA425205931OTOFc.1743C>A (p.Ser581=)
c.1788C>A (p.Ser596=)
2g.26480847G>ACA346133028OTOFc.1742C>T (p.Ser581Phe)
c.1787C>T (p.Ser596Phe)
2g.26480847G>CCA346133033OTOFc.1742C>G (p.Ser581Cys)
c.1787C>G (p.Ser596Cys)
 dbSNP gnomAD v4
2g.26480847G=CA1239827750OTOFc.1742C= (p.Ser581=)
c.1787C= (p.Ser596=)
2g.26480847G>TCA346133030OTOFc.1742C>A (p.Ser581Tyr)
c.1787C>A (p.Ser596Tyr)
2g.26480848A>CCA346133035OTOFc.1741T>G (p.Ser581Ala)
c.1786T>G (p.Ser596Ala)
2g.26480848A>GCA346133039OTOFc.1741T>C (p.Ser581Pro)
c.1786T>C (p.Ser596Pro)
2g.26480848A>TCA346133037OTOFc.1741T>A (p.Ser581Thr)
c.1786T>A (p.Ser596Thr)
2g.26480848_26480849delinsAGCA1239827753OTOFc.1740_1741delinsCT (p.Thr580=)
c.1785_1786delinsCT (p.Thr595=)
2g.26480849G>ACA425205933OTOFc.1740C>T (p.Thr580=)
c.1785C>T (p.Thr595=)
2g.26480849G>CCA425205934OTOFc.1740C>G (p.Thr580=)
c.1785C>G (p.Thr595=)
 ClinVar
2g.26480849G>TCA425205935OTOFc.1740C>A (p.Thr580=)
c.1785C>A (p.Thr595=)
2g.26480850delCA345095OTOFc.1740del (p.Ser581ProfsTer?)
c.1785del (p.Ser596ProfsTer?)
 ClinVar dbSNP
2g.26480850G>ACA346133043OTOFc.1739C>T (p.Thr580Ile)
c.1784C>T (p.Thr595Ile)
2g.26480850G>CCA346133045OTOFc.1739C>G (p.Thr580Ser)
c.1784C>G (p.Thr595Ser)
 gnomAD v4
2g.26480850G>TCA346133048OTOFc.1739C>A (p.Thr580Asn)
c.1784C>A (p.Thr595Asn)
2g.26480851T>ACA346133051OTOFc.1738A>T (p.Thr580Ser)
c.1783A>T (p.Thr595Ser)
2g.26480851T>CCA346133053OTOFc.1738A>G (p.Thr580Ala)
c.1783A>G (p.Thr595Ala)
2g.26480851T>GCA346133055OTOFc.1738A>C (p.Thr580Pro)
c.1783A>C (p.Thr595Pro)
 dbSNP
2g.26480851T=CA1239827755OTOFc.1738A= (p.Thr580=)
c.1783A= (p.Thr595=)
2g.26480852G>ACA425205936OTOFc.1737C>T (p.Asp579=)
c.1782C>T (p.Asp594=)
2g.26480852G>CCA346133058OTOFc.1737C>G (p.Asp579Glu)
c.1782C>G (p.Asp594Glu)
2g.26480852G>TCA346133060OTOFc.1737C>A (p.Asp579Glu)
c.1782C>A (p.Asp594Glu)
2g.26480853T>ACA346133065OTOFc.1736A>T (p.Asp579Val)
c.1781A>T (p.Asp594Val)
 dbSNP
2g.26480853T>CCA346133067OTOFc.1736A>G (p.Asp579Gly)
c.1781A>G (p.Asp594Gly)
2g.26480853T>GCA346133070OTOFc.1736A>C (p.Asp579Ala)
c.1781A>C (p.Asp594Ala)
2g.26480853T=CA1239827756OTOFc.1736A= (p.Asp579=)
c.1781A= (p.Asp594=)
2g.26480854C>ACA346133072OTOFc.1735G>T (p.Asp579Tyr)
c.1780G>T (p.Asp594Tyr)
2g.26480854C>GCA346133077OTOFc.1735G>C (p.Asp579His)
c.1780G>C (p.Asp594His)
 gnomAD v4
2g.26480854C>TCA346133074OTOFc.1735G>A (p.Asp579Asn)
c.1780G>A (p.Asp594Asn)
2g.26480855T>ACA425205941OTOFc.1734A>T (p.Val578=)
c.1779A>T (p.Val593=)
2g.26480855T>CCA425205942OTOFc.1734A>G (p.Val578=)
c.1779A>G (p.Val593=)
2g.26480855T>GCA425205943OTOFc.1734A>C (p.Val578=)
c.1779A>C (p.Val593=)
2g.26480856A=CA1239827757OTOFc.1733T= (p.Val578=)
c.1778T= (p.Val593=)
2g.26480856A>CCA346133079OTOFc.1733T>G (p.Val578Gly)
c.1778T>G (p.Val593Gly)
2g.26480856A>GCA346133080OTOFc.1733T>C (p.Val578Ala)
c.1778T>C (p.Val593Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.26480856A>TCA346133081OTOFc.1733T>A (p.Val578Glu)
c.1778T>A (p.Val593Glu)
2g.26480857C>ACA346133083OTOFc.1732G>T (p.Val578Leu)
c.1777G>T (p.Val593Leu)
2g.26480857C=CA1239827759OTOFc.1732G= (p.Val578=)
c.1777G= (p.Val593=)
2g.26480857C>GCA1564189OTOFc.1732G>C (p.Val578Leu)
c.1777G>C (p.Val593Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480857C>TCA346133086OTOFc.1732G>A (p.Val578Ile)
c.1777G>A (p.Val593Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480858G>ACA425205950OTOFc.1731C>T (p.Ile577=)
c.1776C>T (p.Ile592=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26480858G>CCA346133089OTOFc.1731C>G (p.Ile577Met)
c.1776C>G (p.Ile592Met)
2g.26480858G=CA1239827761OTOFc.1731C= (p.Ile577=)
c.1776C= (p.Ile592=)
2g.26480858G>TCA425205951OTOFc.1731C>A (p.Ile577=)
c.1776C>A (p.Ile592=)
2g.26480859A>CCA346133093OTOFc.1730T>G (p.Ile577Ser)
c.1775T>G (p.Ile592Ser)
2g.26480859A>GCA346133096OTOFc.1730T>C (p.Ile577Thr)
c.1775T>C (p.Ile592Thr)
2g.26480859A>TCA346133098OTOFc.1730T>A (p.Ile577Asn)
c.1775T>A (p.Ile592Asn)
2g.26480860T>ACA346133103OTOFc.1729A>T (p.Ile577Phe)
c.1774A>T (p.Ile592Phe)
 dbSNP gnomAD v4
2g.26480860T>CCA346133105OTOFc.1729A>G (p.Ile577Val)
c.1774A>G (p.Ile592Val)
2g.26480860T>GCA346133101OTOFc.1729A>C (p.Ile577Leu)
c.1774A>C (p.Ile592Leu)
2g.26480860T=CA1239827763OTOFc.1729A= (p.Ile577=)
c.1774A= (p.Ile592=)
2g.26480861C>ACA346133107OTOFc.1728G>T (p.Glu576Asp)
c.1773G>T (p.Glu591Asp)
 gnomAD v4
2g.26480861C=CA1239827765OTOFc.1728G= (p.Glu576=)
c.1773G= (p.Glu591=)
2g.26480861C>GCA346133110OTOFc.1728G>C (p.Glu576Asp)
c.1773G>C (p.Glu591Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.26480861C>TCA425205955OTOFc.1728G>A (p.Glu576=)
c.1773G>A (p.Glu591=)
2g.26480862T>ACA346133113OTOFc.1727A>T (p.Glu576Val)
c.1772A>T (p.Glu591Val)
2g.26480862T>CCA1564190OTOFc.1727A>G (p.Glu576Gly)
c.1772A>G (p.Glu591Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480862T>GCA44400984OTOFc.1727A>C (p.Glu576Ala)
c.1772A>C (p.Glu591Ala)
 dbSNP gnomAD v4
2g.26480862T=CA1239827766OTOFc.1727A= (p.Glu576=)
c.1772A= (p.Glu591=)
2g.26480863C>ACA346133122OTOFc.1726G>T (p.Glu576Ter)
c.1771G>T (p.Glu591Ter)
2g.26480863C>GCA346133121OTOFc.1726G>C (p.Glu576Gln)
c.1771G>C (p.Glu591Gln)
2g.26480863C>TCA346133119OTOFc.1726G>A (p.Glu576Lys)
c.1771G>A (p.Glu591Lys)
2g.26480864C>ACA425205957OTOFc.1725G>T (p.Val575=)
c.1770G>T (p.Val590=)
2g.26480864C=CA1239827769OTOFc.1725G= (p.Val575=)
c.1770G= (p.Val590=)
2g.26480864C>GCA425205958OTOFc.1725G>C (p.Val575=)
c.1770G>C (p.Val590=)
2g.26480864C>TCA425205959OTOFc.1725G>A (p.Val575=)
c.1770G>A (p.Val590=)
 ClinVar dbSNP
2g.26480865A=CA1239827770OTOFc.1724T= (p.Val575=)
c.1769T= (p.Val590=)
2g.26480865A>CCA346133125OTOFc.1724T>G (p.Val575Gly)
c.1769T>G (p.Val590Gly)
2g.26480865A>GCA44400986OTOFc.1724T>C (p.Val575Ala)
c.1769T>C (p.Val590Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480865A>TCA346133128OTOFc.1724T>A (p.Val575Glu)
c.1769T>A (p.Val590Glu)
2g.26480866C>ACA346133131OTOFc.1723G>T (p.Val575Leu)
c.1768G>T (p.Val590Leu)
2g.26480866C=CA1239827772OTOFc.1723G= (p.Val575=)
c.1768G= (p.Val590=)
2g.26480866C>GCA346133134OTOFc.1723G>C (p.Val575Leu)
c.1768G>C (p.Val590Leu)
2g.26480866C>TCA142762OTOFc.1723G>A (p.Val575Met)
c.1768G>A (p.Val590Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480867A>CCA425205963OTOFc.1722T>G (p.Ala574=)
c.1767T>G (p.Ala589=)
2g.26480867A>GCA425205964OTOFc.1722T>C (p.Ala574=)
c.1767T>C (p.Ala589=)
 dbSNP
2g.26480867A>TCA425205962OTOFc.1722T>A (p.Ala574=)
c.1767T>A (p.Ala589=)
2g.26480871_26480886delCA2576699683OTOFc.1707_1722del (p.Leu570TrpfsTer4)
c.1752_1767del (p.Leu585TrpfsTer4)
2g.26480868G>ACA346133138OTOFc.1721C>T (p.Ala574Val)
c.1766C>T (p.Ala589Val)
2g.26480868G>CCA346133144OTOFc.1721C>G (p.Ala574Gly)
c.1766C>G (p.Ala589Gly)
2g.26480868G>TCA346133141OTOFc.1721C>A (p.Ala574Asp)
c.1766C>A (p.Ala589Asp)
2g.26480869C>ACA346133147OTOFc.1720G>T (p.Ala574Ser)
c.1765G>T (p.Ala589Ser)
2g.26480869C>GCA346133149OTOFc.1720G>C (p.Ala574Pro)
c.1765G>C (p.Ala589Pro)
2g.26480869C>TCA346133152OTOFc.1720G>A (p.Ala574Thr)
c.1765G>A (p.Ala589Thr)
2g.26480870C>ACA425205971OTOFc.1719G>T (p.Leu573=)
c.1764G>T (p.Leu588=)
2g.26480870C>GCA425205969OTOFc.1719G>C (p.Leu573=)
c.1764G>C (p.Leu588=)
2g.26480870C>TCA425205970OTOFc.1719G>A (p.Leu573=)
c.1764G>A (p.Leu588=)
 gnomAD v4
2g.26480871A=CA1239827775OTOFc.1718T= (p.Leu573=)
c.1763T= (p.Leu588=)
2g.26480871A>CCA345093OTOFc.1718T>G (p.Leu573Arg)
c.1763T>G (p.Leu588Arg)
 ClinVar dbSNP
2g.26480871A>GCA346133155OTOFc.1718T>C (p.Leu573Pro)
c.1763T>C (p.Leu588Pro)
2g.26480871A>TCA346133157OTOFc.1718T>A (p.Leu573Gln)
c.1763T>A (p.Leu588Gln)
2g.26480872G>ACA425205973OTOFc.1717C>T (p.Leu573=)
c.1762C>T (p.Leu588=)
2g.26480872G>CCA346133161OTOFc.1717C>G (p.Leu573Val)
c.1762C>G (p.Leu588Val)
 gnomAD v4
2g.26480872G>TCA346133163OTOFc.1717C>A (p.Leu573Met)
c.1762C>A (p.Leu588Met)
2g.26480873G>ACA425205975OTOFc.1716C>T (p.Gly572=)
c.1761C>T (p.Gly587=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.26480873G>CCA425205979OTOFc.1716C>G (p.Gly572=)
c.1761C>G (p.Gly587=)
2g.26480873G=CA1239827777OTOFc.1716C= (p.Gly572=)
c.1761C= (p.Gly587=)
2g.26480873G>TCA425205978OTOFc.1716C>A (p.Gly572=)
c.1761C>A (p.Gly587=)
2g.26480874C>ACA346133166OTOFc.1715G>T (p.Gly572Val)
c.1760G>T (p.Gly587Val)
2g.26480874C>GCA346133169OTOFc.1715G>C (p.Gly572Ala)
c.1760G>C (p.Gly587Ala)
 gnomAD v4
2g.26480874C>TCA346133171OTOFc.1715G>A (p.Gly572Asp)
c.1760G>A (p.Gly587Asp)
2g.26480875C>ACA346133175OTOFc.1714G>T (p.Gly572Cys)
c.1759G>T (p.Gly587Cys)
 ClinVar dbSNP
2g.26480875C>GCA346133179OTOFc.1714G>C (p.Gly572Arg)
c.1759G>C (p.Gly587Arg)
2g.26480875C>TCA346133176OTOFc.1714G>A (p.Gly572Ser)
c.1759G>A (p.Gly587Ser)
2g.26480876C>ACA425205984OTOFc.1713G>T (p.Leu571=)
c.1758G>T (p.Leu586=)
2g.26480876C=CA1239827779OTOFc.1713G= (p.Leu571=)
c.1758G= (p.Leu586=)
2g.26480876C>GCA425205986OTOFc.1713G>C (p.Leu571=)
c.1758G>C (p.Leu586=)
2g.26480876C>TCA142760OTOFc.1713G>A (p.Leu571=)
c.1758G>A (p.Leu586=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480877A=CA1239827781OTOFc.1712T= (p.Leu571=)
c.1757T= (p.Leu586=)
2g.26480877A>CCA346133186OTOFc.1712T>G (p.Leu571Arg)
c.1757T>G (p.Leu586Arg)
2g.26480877A>GCA1564191OTOFc.1712T>C (p.Leu571Pro)
c.1757T>C (p.Leu586Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480877A>TCA346133189OTOFc.1712T>A (p.Leu571Gln)
c.1757T>A (p.Leu586Gln)
2g.26480878G>ACA425205988OTOFc.1711C>T (p.Leu571=)
c.1756C>T (p.Leu586=)
2g.26480878G>CCA346133192OTOFc.1711C>G (p.Leu571Val)
c.1756C>G (p.Leu586Val)
2g.26480878G>TCA346133195OTOFc.1711C>A (p.Leu571Met)
c.1756C>A (p.Leu586Met)
2g.26480879_26480894dupCA2658238262OTOFc.1696_1711dup (p.Leu571ProfsTer19)
c.1741_1756dup (p.Leu586ProfsTer19)
 gnomAD v4
2g.26480879C>ACA425205990OTOFc.1710G>T (p.Leu570=)
c.1755G>T (p.Leu585=)
 gnomAD v4
2g.26480879C=CA1239827783OTOFc.1710G= (p.Leu570=)
c.1755G= (p.Leu585=)
2g.26480879C>GCA425205991OTOFc.1710G>C (p.Leu570=)
c.1755G>C (p.Leu585=)
2g.26480879C>TCA425205992OTOFc.1710G>A (p.Leu570=)
c.1755G>A (p.Leu585=)
 dbSNP gnomAD v2
2g.26480880A>CCA346133199OTOFc.1709T>G (p.Leu570Arg)
c.1754T>G (p.Leu585Arg)
2g.26480880A>GCA346133201OTOFc.1709T>C (p.Leu570Pro)
c.1754T>C (p.Leu585Pro)
2g.26480880A>TCA346133204OTOFc.1709T>A (p.Leu570Gln)
c.1754T>A (p.Leu585Gln)
2g.26480881G>ACA1564192OTOFc.1708C>T (p.Leu570=)
c.1753C>T (p.Leu585=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480881G>CCA346133209OTOFc.1708C>G (p.Leu570Val)
c.1753C>G (p.Leu585Val)
2g.26480881G=CA1239827785OTOFc.1708C= (p.Leu570=)
c.1753C= (p.Leu585=)
2g.26480881G>TCA346133210OTOFc.1708C>A (p.Leu570Met)
c.1753C>A (p.Leu585Met)
 gnomAD v4
2g.26480882G>ACA425205993OTOFc.1707C>T (p.Leu569=)
c.1752C>T (p.Leu584=)
2g.26480882G>CCA425205994OTOFc.1707C>G (p.Leu569=)
c.1752C>G (p.Leu584=)
2g.26480882G>TCA425205996OTOFc.1707C>A (p.Leu569=)
c.1752C>A (p.Leu584=)
2g.26480883A=CA1239827787OTOFc.1706T= (p.Leu569=)
c.1751T= (p.Leu584=)
2g.26480883A>CCA346133213OTOFc.1706T>G (p.Leu569Arg)
c.1751T>G (p.Leu584Arg)
2g.26480883A>GCA346133215OTOFc.1706T>C (p.Leu569Pro)
c.1751T>C (p.Leu584Pro)
2g.26480883A>TCA346133218OTOFc.1706T>A (p.Leu569His)
c.1751T>A (p.Leu584His)
2g.26480884G>ACA346133221OTOFc.1705C>T (p.Leu569Phe)
c.1750C>T (p.Leu584Phe)
 gnomAD v4
2g.26480884G>CCA346133223OTOFc.1705C>G (p.Leu569Val)
c.1750C>G (p.Leu584Val)
 gnomAD v4
2g.26480884G>TCA346133226OTOFc.1705C>A (p.Leu569Ile)
c.1750C>A (p.Leu584Ile)
 gnomAD v4
2g.26480884_26480885dupCA1239827788OTOFc.1704_1705dup (p.Leu569ArgfsTer11)
c.1749_1750dup (p.Leu584ArgfsTer11)
 dbSNP gnomAD v4
2g.26480885C>ACA425205997OTOFc.1704G>T (p.Arg568=)
c.1749G>T (p.Arg583=)
2g.26480885C>GCA425205998OTOFc.1704G>C (p.Arg568=)
c.1749G>C (p.Arg583=)
2g.26480885C>TCA425205999OTOFc.1704G>A (p.Arg568=)
c.1749G>A (p.Arg583=)

Number of alleles fetched