Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
2g.26480886C>ACA346133230OTOFc.1703G>T (p.Arg568Leu)
c.1748G>T (p.Arg583Leu)
2g.26480886C=CA1239827790OTOFc.1703G= (p.Arg568=)
c.1748G= (p.Arg583=)
2g.26480886C>GCA346133233OTOFc.1703G>C (p.Arg568Pro)
c.1748G>C (p.Arg583Pro)
 gnomAD v4
2g.26480886C>TCA142758OTOFc.1703G>A (p.Arg568Gln)
c.1748G>A (p.Arg583Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480886_26480887delinsCGCA1239827791OTOFc.1702_1703delinsCG (p.Arg568=)
c.1747_1748delinsCG (p.Arg583=)
2g.26480887G>ACA1564194OTOFc.1702C>T (p.Arg568Trp)
c.1747C>T (p.Arg583Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480887G>CCA346133240OTOFc.1702C>G (p.Arg568Gly)
c.1747C>G (p.Arg583Gly)
2g.26480887G=CA1239827793OTOFc.1702C= (p.Arg568=)
c.1747C= (p.Arg583=)
2g.26480887G>TCA425206000OTOFc.1702C>A (p.Arg568=)
c.1747C>A (p.Arg583=)
 gnomAD v4
2g.26480889delCA1564193OTOFc.1702del (p.Arg568GlyfsTer11)
c.1747del (p.Arg583GlyfsTer11)
 dbSNP ExAC
2g.26480888G>ACA425206001OTOFc.1701C>T (p.Ala567=)
c.1746C>T (p.Ala582=)
2g.26480888G>CCA425206004OTOFc.1701C>G (p.Ala567=)
c.1746C>G (p.Ala582=)
2g.26480888G>TCA425206002OTOFc.1701C>A (p.Ala567=)
c.1746C>A (p.Ala582=)
2g.26480889G>ACA346133248OTOFc.1700C>T (p.Ala567Val)
c.1745C>T (p.Ala582Val)
 dbSNP gnomAD v2 gnomAD v4
2g.26480889G>CCA346133250OTOFc.1700C>G (p.Ala567Gly)
c.1745C>G (p.Ala582Gly)
2g.26480889G=CA1239827796OTOFc.1700C= (p.Ala567=)
c.1745C= (p.Ala582=)
2g.26480889G>TCA1564195OTOFc.1700C>A (p.Ala567Asp)
c.1745C>A (p.Ala582Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480889_26480890delinsGCCA1239827795OTOFc.1699_1700delinsGC (p.Ala567=)
c.1744_1745delinsGC (p.Ala582=)
2g.26480890C>ACA346133251OTOFc.1699G>T (p.Ala567Ser)
c.1744G>T (p.Ala582Ser)
2g.26480890C=CA1239827799OTOFc.1699G= (p.Ala567=)
c.1744G= (p.Ala582=)
2g.26480890C>GCA346133252OTOFc.1699G>C (p.Ala567Pro)
c.1744G>C (p.Ala582Pro)
2g.26480890C>TCA1564196OTOFc.1699G>A (p.Ala567Thr)
c.1744G>A (p.Ala582Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480892delCA531762003OTOFc.1699del (p.Ala567ProfsTer12)
c.1744del (p.Ala582ProfsTer12)
 dbSNP gnomAD v2
2g.26480891C>ACA425206008OTOFc.1698G>T (p.Arg566=)
c.1743G>T (p.Arg581=)
2g.26480891C=CA1239827801OTOFc.1698G= (p.Arg566=)
c.1743G= (p.Arg581=)
2g.26480891C>GCA425206007OTOFc.1698G>C (p.Arg566=)
c.1743G>C (p.Arg581=)
 COSMIC
2g.26480891C>TCA425206006OTOFc.1698G>A (p.Arg566=)
c.1743G>A (p.Arg581=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26480892C>ACA346133257OTOFc.1697G>T (p.Arg566Leu)
c.1742G>T (p.Arg581Leu)
2g.26480892C=CA1239827802OTOFc.1697G= (p.Arg566=)
c.1742G= (p.Arg581=)
2g.26480892C>GCA346133259OTOFc.1697G>C (p.Arg566Pro)
c.1742G>C (p.Arg581Pro)
 ClinVar
2g.26480892C>TCA1564197OTOFc.1697G>A (p.Arg566Gln)
c.1742G>A (p.Arg581Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480893G>ACA1564198OTOFc.1696C>T (p.Arg566Trp)
c.1741C>T (p.Arg581Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480893G>CCA346133270OTOFc.1696C>G (p.Arg566Gly)
c.1741C>G (p.Arg581Gly)
2g.26480893G=CA1239827805OTOFc.1696C= (p.Arg566=)
c.1741C= (p.Arg581=)
2g.26480893G>TCA425206010OTOFc.1696C>A (p.Arg566=)
c.1741C>A (p.Arg581=)
 dbSNP gnomAD v3 gnomAD v4
2g.26480894dupCA2658238271OTOFc.1696dup (p.Arg566ProfsTer19)
c.1741dup (p.Arg581ProfsTer19)
 gnomAD v4
2g.26480894G>ACA425206011OTOFc.1695C>T (p.Phe565=)
c.1740C>T (p.Phe580=)
2g.26480894G>CCA346133272OTOFc.1695C>G (p.Phe565Leu)
c.1740C>G (p.Phe580Leu)
2g.26480894G>TCA346133274OTOFc.1695C>A (p.Phe565Leu)
c.1740C>A (p.Phe580Leu)
2g.26480895A=CA1239827806OTOFc.1694T= (p.Phe565=)
c.1739T= (p.Phe580=)
2g.26480895A>CCA346133282OTOFc.1694T>G (p.Phe565Cys)
c.1739T>G (p.Phe580Cys)
2g.26480895A>GCA346133280OTOFc.1694T>C (p.Phe565Ser)
c.1739T>C (p.Phe580Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.26480895A>TCA346133277OTOFc.1694T>A (p.Phe565Tyr)
c.1739T>A (p.Phe580Tyr)
2g.26480896A>CCA346133286OTOFc.1693T>G (p.Phe565Val)
c.1738T>G (p.Phe580Val)
2g.26480896A>GCA346133288OTOFc.1693T>C (p.Phe565Leu)
c.1738T>C (p.Phe580Leu)
2g.26480896A>TCA346133290OTOFc.1693T>A (p.Phe565Ile)
c.1738T>A (p.Phe580Ile)
2g.26480897G>ACA425206013OTOFc.1692C>T (p.Ser564=)
c.1737C>T (p.Ser579=)
 gnomAD v4 COSMIC
2g.26480897G>CCA425206015OTOFc.1692C>G (p.Ser564=)
c.1737C>G (p.Ser579=)
2g.26480897G>TCA425206016OTOFc.1692C>A (p.Ser564=)
c.1737C>A (p.Ser579=)
2g.26480898G>ACA346133293OTOFc.1691C>T (p.Ser564Phe)
c.1736C>T (p.Ser579Phe)
 gnomAD v4
2g.26480898G>CCA346133295OTOFc.1691C>G (p.Ser564Cys)
c.1736C>G (p.Ser579Cys)
2g.26480898G>TCA346133297OTOFc.1691C>A (p.Ser564Tyr)
c.1736C>A (p.Ser579Tyr)
2g.26480899A>CCA346133300OTOFc.1690T>G (p.Ser564Ala)
c.1735T>G (p.Ser579Ala)
2g.26480899A>GCA346133305OTOFc.1690T>C (p.Ser564Pro)
c.1735T>C (p.Ser579Pro)
2g.26480899A>TCA346133302OTOFc.1690T>A (p.Ser564Thr)
c.1735T>A (p.Ser579Thr)
2g.26480900C>ACA425206020OTOFc.1689G>T (p.Val563=)
c.1734G>T (p.Val578=)
2g.26480900C>GCA425206021OTOFc.1689G>C (p.Val563=)
c.1734G>C (p.Val578=)
2g.26480900C>TCA425206022OTOFc.1689G>A (p.Val563=)
c.1734G>A (p.Val578=)
 ClinVar gnomAD v4
2g.26480901A>CCA346133308OTOFc.1688T>G (p.Val563Gly)
c.1733T>G (p.Val578Gly)
2g.26480901A>GCA346133310OTOFc.1688T>C (p.Val563Ala)
c.1733T>C (p.Val578Ala)
2g.26480901A>TCA346133312OTOFc.1688T>A (p.Val563Glu)
c.1733T>A (p.Val578Glu)
2g.26480902C>ACA346133315OTOFc.1687G>T (p.Val563Leu)
c.1732G>T (p.Val578Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480902C=CA1239827808OTOFc.1687G= (p.Val563=)
c.1732G= (p.Val578=)
2g.26480902C>GCA346133318OTOFc.1687G>C (p.Val563Leu)
c.1732G>C (p.Val578Leu)
2g.26480902C>TCA346133320OTOFc.1687G>A (p.Val563Met)
c.1732G>A (p.Val578Met)
2g.26480903A>CCA425206026OTOFc.1686T>G (p.Gly562=)
c.1731T>G (p.Gly577=)
2g.26480903A>GCA425206027OTOFc.1686T>C (p.Gly562=)
c.1731T>C (p.Gly577=)
2g.26480903A>TCA425206029OTOFc.1686T>A (p.Gly562=)
c.1731T>A (p.Gly577=)
2g.26480904C>ACA346133323OTOFc.1685G>T (p.Gly562Val)
c.1730G>T (p.Gly577Val)
2g.26480904C>GCA346133325OTOFc.1685G>C (p.Gly562Ala)
c.1730G>C (p.Gly577Ala)
2g.26480904C>TCA346133327OTOFc.1685G>A (p.Gly562Asp)
c.1730G>A (p.Gly577Asp)
2g.26480905C>ACA346133330OTOFc.1684G>T (p.Gly562Cys)
c.1729G>T (p.Gly577Cys)
2g.26480905C=CA1239827809OTOFc.1684G= (p.Gly562=)
c.1729G= (p.Gly577=)
2g.26480905C>GCA346133333OTOFc.1684G>C (p.Gly562Arg)
c.1729G>C (p.Gly577Arg)
 gnomAD v4
2g.26480905C>TCA346133335OTOFc.1684G>A (p.Gly562Ser)
c.1729G>A (p.Gly577Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480906C>ACA346133340OTOFc.1683G>T (p.Glu561Asp)
c.1728G>T (p.Glu576Asp)
2g.26480906C>GCA346133339OTOFc.1683G>C (p.Glu561Asp)
c.1728G>C (p.Glu576Asp)
2g.26480906C>TCA425206034OTOFc.1683G>A (p.Glu561=)
c.1728G>A (p.Glu576=)
2g.26480907delCA645529722OTOFc.1682del (p.Glu561GlyfsTer18)
c.1727del (p.Glu576GlyfsTer18)
 COSMIC
2g.26480907T>ACA346133344OTOFc.1682A>T (p.Glu561Val)
c.1727A>T (p.Glu576Val)
2g.26480907T>CCA346133348OTOFc.1682A>G (p.Glu561Gly)
c.1727A>G (p.Glu576Gly)
2g.26480907T>GCA346133346OTOFc.1682A>C (p.Glu561Ala)
c.1727A>C (p.Glu576Ala)
2g.26480908C>ACA346133351OTOFc.1681G>T (p.Glu561Ter)
c.1726G>T (p.Glu576Ter)
 dbSNP
2g.26480908C=CA1239827810OTOFc.1681G= (p.Glu561=)
c.1726G= (p.Glu576=)
2g.26480908C>GCA346133353OTOFc.1681G>C (p.Glu561Gln)
c.1726G>C (p.Glu576Gln)
2g.26480908C>TCA1564199OTOFc.1681G>A (p.Glu561Lys)
c.1726G>A (p.Glu576Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480909C>ACA425206039OTOFc.1680G>T (p.Gly560=)
c.1725G>T (p.Gly575=)
2g.26480909C=CA1239827812OTOFc.1680G= (p.Gly560=)
c.1725G= (p.Gly575=)
2g.26480909C>GCA425206042OTOFc.1680G>C (p.Gly560=)
c.1725G>C (p.Gly575=)
2g.26480909C>TCA425206041OTOFc.1680G>A (p.Gly560=)
c.1725G>A (p.Gly575=)
 dbSNP gnomAD v2 gnomAD v4
2g.26480910C>ACA346133358OTOFc.1679G>T (p.Gly560Val)
c.1724G>T (p.Gly575Val)
2g.26480910C=CA1239827813OTOFc.1679G= (p.Gly560=)
c.1724G= (p.Gly575=)
2g.26480910C>GCA1564200OTOFc.1679G>C (p.Gly560Ala)
c.1724G>C (p.Gly575Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480910C>TCA346133362OTOFc.1679G>A (p.Gly560Glu)
c.1724G>A (p.Gly575Glu)
 dbSNP
2g.26480911C>ACA1564201OTOFc.1678G>T (p.Gly560Trp)
c.1723G>T (p.Gly575Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480911C=CA1239827814OTOFc.1678G= (p.Gly560=)
c.1723G= (p.Gly575=)
2g.26480911C>GCA346133368OTOFc.1678G>C (p.Gly560Arg)
c.1723G>C (p.Gly575Arg)
 gnomAD v4
2g.26480911C>TCA346133370OTOFc.1678G>A (p.Gly560Arg)
c.1723G>A (p.Gly575Arg)

Number of alleles fetched