Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26480871_26480886delCA2576699683OTOFc.1707_1722del (p.Leu570TrpfsTer4)
c.1752_1767del (p.Leu585TrpfsTer4)
2g.26480879_26480894dupCA2658238262OTOFc.1696_1711dup (p.Leu571ProfsTer19)
c.1741_1756dup (p.Leu586ProfsTer19)
 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)
2g.26480912C>ACA425206046OTOFc.1677G>T (p.Leu559=)
c.1722G>T (p.Leu574=)
2g.26480912C>GCA425206048OTOFc.1677G>C (p.Leu559=)
c.1722G>C (p.Leu574=)
 gnomAD v4
2g.26480912C>TCA425206047OTOFc.1677G>A (p.Leu559=)
c.1722G>A (p.Leu574=)
 gnomAD v4
2g.26480913A>CCA346133374OTOFc.1676T>G (p.Leu559Arg)
c.1721T>G (p.Leu574Arg)
2g.26480913A>GCA346133376OTOFc.1676T>C (p.Leu559Pro)
c.1721T>C (p.Leu574Pro)
2g.26480913A>TCA346133378OTOFc.1676T>A (p.Leu559Gln)
c.1721T>A (p.Leu574Gln)
2g.26480914G>ACA425206052OTOFc.1675C>T (p.Leu559=)
c.1720C>T (p.Leu574=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480914G>CCA346133381OTOFc.1675C>G (p.Leu559Val)
c.1720C>G (p.Leu574Val)
 gnomAD v4
2g.26480914G=CA1239827816OTOFc.1675C= (p.Leu559=)
c.1720C= (p.Leu574=)
2g.26480914G>TCA346133383OTOFc.1675C>A (p.Leu559Met)
c.1720C>A (p.Leu574Met)
2g.26480915G>ACA425206055OTOFc.1674C>T (p.Gly558=)
c.1719C>T (p.Gly573=)
 COSMIC
2g.26480915G>CCA44401005OTOFc.1674C>G (p.Gly558=)
c.1719C>G (p.Gly573=)
 dbSNP gnomAD v4
2g.26480915G=CA1239827818OTOFc.1674C= (p.Gly558=)
c.1719C= (p.Gly573=)
2g.26480915G>TCA425206056OTOFc.1674C>A (p.Gly558=)
c.1719C>A (p.Gly573=)
2g.26480916C>ACA346133385OTOFc.1673G>T (p.Gly558Val)
c.1718G>T (p.Gly573Val)
2g.26480916C>GCA346133386OTOFc.1673G>C (p.Gly558Ala)
c.1718G>C (p.Gly573Ala)
2g.26480916C>TCA346133387OTOFc.1673G>A (p.Gly558Asp)
c.1718G>A (p.Gly573Asp)
 gnomAD v4
2g.26480917C>ACA346133390OTOFc.1672G>T (p.Gly558Cys)
c.1717G>T (p.Gly573Cys)
2g.26480917C=CA1239827820OTOFc.1672G= (p.Gly558=)
c.1717G= (p.Gly573=)
2g.26480917C>GCA346133392OTOFc.1672G>C (p.Gly558Arg)
c.1717G>C (p.Gly573Arg)
2g.26480917C>TCA346133394OTOFc.1672G>A (p.Gly558Ser)
c.1717G>A (p.Gly573Ser)
 ClinVar dbSNP gnomAD v4
2g.26480918C>ACA346133398OTOFc.1671G>T (p.Glu557Asp)
c.1716G>T (p.Glu572Asp)
2g.26480918C>GCA346133400OTOFc.1671G>C (p.Glu557Asp)
c.1716G>C (p.Glu572Asp)
2g.26480918C>TCA425206060OTOFc.1671G>A (p.Glu557=)
c.1716G>A (p.Glu572=)
2g.26480919T>ACA346133402OTOFc.1670A>T (p.Glu557Val)
c.1715A>T (p.Glu572Val)
2g.26480919T>CCA346133403OTOFc.1670A>G (p.Glu557Gly)
c.1715A>G (p.Glu572Gly)
2g.26480919T>GCA346133405OTOFc.1670A>C (p.Glu557Ala)
c.1715A>C (p.Glu572Ala)
2g.26480920C>ACA346133410OTOFc.1669G>T (p.Glu557Ter)
c.1714G>T (p.Glu572Ter)
2g.26480920C=CA1239827821OTOFc.1669G= (p.Glu557=)
c.1714G= (p.Glu572=)
2g.26480920C>GCA44401010OTOFc.1669G>C (p.Glu557Gln)
c.1714G>C (p.Glu572Gln)
 dbSNP
2g.26480920C>TCA1564202OTOFc.1669G>A (p.Glu557Lys)
c.1714G>A (p.Glu572Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480921G>ACA44401013OTOFc.1668C>T (p.Asn556=)
c.1713C>T (p.Asn571=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26480921G>CCA346133415OTOFc.1668C>G (p.Asn556Lys)
c.1713C>G (p.Asn571Lys)
 gnomAD v4
2g.26480921G=CA1239827823OTOFc.1668C= (p.Asn556=)
c.1713C= (p.Asn571=)
2g.26480921G>TCA346133416OTOFc.1668C>A (p.Asn556Lys)
c.1713C>A (p.Asn571Lys)
 gnomAD v4
2g.26480922T>ACA346133419OTOFc.1667A>T (p.Asn556Ile)
c.1712A>T (p.Asn571Ile)
2g.26480922T>CCA346133421OTOFc.1667A>G (p.Asn556Ser)
c.1712A>G (p.Asn571Ser)
2g.26480922T>GCA346133422OTOFc.1667A>C (p.Asn556Thr)
c.1712A>C (p.Asn571Thr)
2g.26480923T>ACA346133423OTOFc.1666A>T (p.Asn556Tyr)
c.1711A>T (p.Asn571Tyr)
2g.26480923T>CCA346133424OTOFc.1666A>G (p.Asn556Asp)
c.1711A>G (p.Asn571Asp)
2g.26480923T>GCA346133425OTOFc.1666A>C (p.Asn556His)
c.1711A>C (p.Asn571His)
2g.26480924C>ACA425206075OTOFc.1665G>T (p.Leu555=)
c.1710G>T (p.Leu570=)
 ClinVar
2g.26480924C>GCA425206077OTOFc.1665G>C (p.Leu555=)
c.1710G>C (p.Leu570=)
2g.26480924C>TCA425206079OTOFc.1665G>A (p.Leu555=)
c.1710G>A (p.Leu570=)
2g.26480925A>CCA346133428OTOFc.1664T>G (p.Leu555Arg)
c.1709T>G (p.Leu570Arg)
 gnomAD v4
2g.26480925A>GCA346133431OTOFc.1664T>C (p.Leu555Pro)
c.1709T>C (p.Leu570Pro)
2g.26480925A>TCA346133434OTOFc.1664T>A (p.Leu555Gln)
c.1709T>A (p.Leu570Gln)
2g.26480926G>ACA425206081OTOFc.1663C>T (p.Leu555=)
c.1708C>T (p.Leu570=)
 gnomAD v4
2g.26480926G>CCA346133436OTOFc.1663C>G (p.Leu555Val)
c.1708C>G (p.Leu570Val)
2g.26480926G=CA1239827824OTOFc.1663C= (p.Leu555=)
c.1708C= (p.Leu570=)
2g.26480926G>TCA346133438OTOFc.1663C>A (p.Leu555Met)
c.1708C>A (p.Leu570Met)
 dbSNP gnomAD v3 gnomAD v4
2g.26480927G>ACA425206084OTOFc.1662C>T (p.Asp554=)
c.1707C>T (p.Asp569=)
2g.26480927G>CCA346133442OTOFc.1662C>G (p.Asp554Glu)
c.1707C>G (p.Asp569Glu)
2g.26480927G>TCA346133440OTOFc.1662C>A (p.Asp554Glu)
c.1707C>A (p.Asp569Glu)
2g.26480928T>ACA346133444OTOFc.1661A>T (p.Asp554Val)
c.1706A>T (p.Asp569Val)
 gnomAD v4
2g.26480928T>CCA346133446OTOFc.1661A>G (p.Asp554Gly)
c.1706A>G (p.Asp569Gly)
2g.26480928T>GCA346133448OTOFc.1661A>C (p.Asp554Ala)
c.1706A>C (p.Asp569Ala)
2g.26480929C>ACA346133449OTOFc.1660G>T (p.Asp554Tyr)
c.1705G>T (p.Asp569Tyr)
2g.26480929C>GCA346133451OTOFc.1660G>C (p.Asp554His)
c.1705G>C (p.Asp569His)
2g.26480929C>TCA346133453OTOFc.1660G>A (p.Asp554Asn)
c.1705G>A (p.Asp569Asn)
2g.26480930C>ACA346133456OTOFc.1659G>T (p.Gln553His)
c.1704G>T (p.Gln568His)
2g.26480930C>GCA346133458OTOFc.1659G>C (p.Gln553His)
c.1704G>C (p.Gln568His)
2g.26480930C>TCA425206089OTOFc.1659G>A (p.Gln553=)
c.1704G>A (p.Gln568=)
2g.26480931T>ACA346133462OTOFc.1658A>T (p.Gln553Leu)
c.1703A>T (p.Gln568Leu)
2g.26480931T>CCA346133464OTOFc.1658A>G (p.Gln553Arg)
c.1703A>G (p.Gln568Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.26480931T>GCA346133466OTOFc.1658A>C (p.Gln553Pro)
c.1703A>C (p.Gln568Pro)
2g.26480931T=CA1239827826OTOFc.1658A= (p.Gln553=)
c.1703A= (p.Gln568=)
2g.26480932G>ACA346133468OTOFc.1657C>T (p.Gln553Ter)
c.1702C>T (p.Gln568Ter)
2g.26480932G>CCA346133470OTOFc.1657C>G (p.Gln553Glu)
c.1702C>G (p.Gln568Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.26480932G=CA1239827828OTOFc.1657C= (p.Gln553=)
c.1702C= (p.Gln568=)
2g.26480932G>TCA346133472OTOFc.1657C>A (p.Gln553Lys)
c.1702C>A (p.Gln568Lys)
2g.26480933A>CCA346133478OTOFc.1656T>G (p.His552Gln)
c.1701T>G (p.His567Gln)
2g.26480933A>GCA425206091OTOFc.1656T>C (p.His552=)
c.1701T>C (p.His567=)
2g.26480933A>TCA346133476OTOFc.1656T>A (p.His552Gln)
c.1701T>A (p.His567Gln)
2g.26480934T>ACA346133481OTOFc.1655A>T (p.His552Leu)
c.1700A>T (p.His567Leu)
2g.26480934T>CCA346133485OTOFc.1655A>G (p.His552Arg)
c.1700A>G (p.His567Arg)
2g.26480934T>GCA346133483OTOFc.1655A>C (p.His552Pro)
c.1700A>C (p.His567Pro)
2g.26480935G>ACA346133487OTOFc.1654C>T (p.His552Tyr)
c.1699C>T (p.His567Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.26480935G>CCA346133489OTOFc.1654C>G (p.His552Asp)
c.1699C>G (p.His567Asp)
2g.26480935G=CA1239827830OTOFc.1654C= (p.His552=)
c.1699C= (p.His567=)
2g.26480935G>TCA346133488OTOFc.1654C>A (p.His552Asn)
c.1699C>A (p.His567Asn)
2g.26480936C>ACA44401015OTOFc.1653G>T (p.Glu551Asp)
c.1698G>T (p.Glu566Asp)
 dbSNP
2g.26480936C=CA1239827832OTOFc.1653G= (p.Glu551=)
c.1698G= (p.Glu566=)
2g.26480936C>GCA346133490OTOFc.1653G>C (p.Glu551Asp)
c.1698G>C (p.Glu566Asp)
2g.26480936C>TCA425206092OTOFc.1653G>A (p.Glu551=)
c.1698G>A (p.Glu566=)
 ClinVar
2g.26480937T>ACA346133491OTOFc.1652A>T (p.Glu551Val)
c.1697A>T (p.Glu566Val)
2g.26480937T>CCA346133492OTOFc.1652A>G (p.Glu551Gly)
c.1697A>G (p.Glu566Gly)
2g.26480937T>GCA346133493OTOFc.1652A>C (p.Glu551Ala)
c.1697A>C (p.Glu566Ala)
2g.26480937_26480938delinsTCCA1239827834OTOFc.1651_1652delinsGA (p.Glu551=)
c.1696_1697delinsGA (p.Glu566=)
2g.26480938delCA342560OTOFc.1651del (p.Glu551SerfsTer5)
c.1696del (p.Glu566SerfsTer5)
 ClinVar dbSNP
2g.26480938C>ACA346133494OTOFc.1651G>T (p.Glu551Ter)
c.1696G>T (p.Glu566Ter)
2g.26480938C=CA1239827838OTOFc.1651G= (p.Glu551=)
c.1696G= (p.Glu566=)
2g.26480938C>GCA346133495OTOFc.1651G>C (p.Glu551Gln)
c.1696G>C (p.Glu566Gln)
2g.26480938C>TCA1564203OTOFc.1651G>A (p.Glu551Lys)
c.1696G>A (p.Glu566Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480939A>CCA346133496OTOFc.1650T>G (p.Asp550Glu)
c.1695T>G (p.Asp565Glu)
2g.26480939A>GCA425206093OTOFc.1650T>C (p.Asp550=)
c.1695T>C (p.Asp565=)
 dbSNP
2g.26480939A>TCA346133497OTOFc.1650T>A (p.Asp550Glu)
c.1695T>A (p.Asp565Glu)
2g.26480940T>ACA346133500OTOFc.1649A>T (p.Asp550Val)
c.1694A>T (p.Asp565Val)
2g.26480940T>CCA346133498OTOFc.1649A>G (p.Asp550Gly)
c.1694A>G (p.Asp565Gly)
2g.26480940T>GCA346133499OTOFc.1649A>C (p.Asp550Ala)
c.1694A>C (p.Asp565Ala)
2g.26480941C>ACA346133501OTOFc.1648G>T (p.Asp550Tyr)
c.1693G>T (p.Asp565Tyr)
2g.26480941C=CA1239827842OTOFc.1648G= (p.Asp550=)
c.1693G= (p.Asp565=)
2g.26480941C>GCA346133502OTOFc.1648G>C (p.Asp550His)
c.1693G>C (p.Asp565His)
2g.26480941C>TCA346133503OTOFc.1648G>A (p.Asp550Asn)
c.1693G>A (p.Asp565Asn)
 dbSNP
2g.26480942C>ACA425206095OTOFc.1647G>T (p.Leu549=)
c.1692G>T (p.Leu564=)
2g.26480942C=CA1239827844OTOFc.1647G= (p.Leu549=)
c.1692G= (p.Leu564=)
2g.26480942C>GCA425206094OTOFc.1647G>C (p.Leu549=)
c.1692G>C (p.Leu564=)
2g.26480942C>TCA1564204OTOFc.1647G>A (p.Leu549=)
c.1692G>A (p.Leu564=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480943A>CCA346133504OTOFc.1646T>G (p.Leu549Arg)
c.1691T>G (p.Leu564Arg)
2g.26480943A>GCA346133505OTOFc.1646T>C (p.Leu549Pro)
c.1691T>C (p.Leu564Pro)
 gnomAD v4
2g.26480943A>TCA346133506OTOFc.1646T>A (p.Leu549Gln)
c.1691T>A (p.Leu564Gln)
2g.26480944G>ACA425206096OTOFc.1645C>T (p.Leu549=)
c.1690C>T (p.Leu564=)
2g.26480944G>CCA346133507OTOFc.1645C>G (p.Leu549Val)
c.1690C>G (p.Leu564Val)
2g.26480944G=CA1239827848OTOFc.1645C= (p.Leu549=)
c.1690C= (p.Leu564=)
2g.26480944G>TCA346133508OTOFc.1645C>A (p.Leu549Met)
c.1690C>A (p.Leu564Met)
 dbSNP gnomAD v2
2g.26480945C>ACA425206097OTOFc.1644G>T (p.Leu548=)
c.1689G>T (p.Leu563=)
2g.26480945C=CA1239827850OTOFc.1644G= (p.Leu548=)
c.1689G= (p.Leu563=)
2g.26480945C>GCA425206098OTOFc.1644G>C (p.Leu548=)
c.1689G>C (p.Leu563=)
2g.26480945C>TCA44401026OTOFc.1644G>A (p.Leu548=)
c.1689G>A (p.Leu563=)
 dbSNP gnomAD v3 gnomAD v4
2g.26480946A>CCA346133513OTOFc.1643T>G (p.Leu548Arg)
c.1688T>G (p.Leu563Arg)
2g.26480946A>GCA346133514OTOFc.1643T>C (p.Leu548Pro)
c.1688T>C (p.Leu563Pro)
2g.26480946A>TCA346133511OTOFc.1643T>A (p.Leu548Gln)
c.1688T>A (p.Leu563Gln)
 gnomAD v4
2g.26480947G>ACA425206099OTOFc.1642C>T (p.Leu548=)
c.1687C>T (p.Leu563=)
 gnomAD v4
2g.26480947G>CCA346133521OTOFc.1642C>G (p.Leu548Val)
c.1687C>G (p.Leu563Val)
2g.26480947G=CA1239827853OTOFc.1642C= (p.Leu548=)
c.1687C= (p.Leu563=)
2g.26480947G>TCA346133522OTOFc.1642C>A (p.Leu548Met)
c.1687C>A (p.Leu563Met)
2g.26480948C>ACA425206100OTOFc.1641G>T (p.Thr547=)
c.1686G>T (p.Thr562=)
 ClinVar gnomAD v4
2g.26480948C=CA1239827858OTOFc.1641G= (p.Thr547=)
c.1686G= (p.Thr562=)
2g.26480948C>GCA1564205OTOFc.1641G>C (p.Thr547=)
c.1686G>C (p.Thr562=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480948C>TCA425206101OTOFc.1641G>A (p.Thr547=)
c.1686G>A (p.Thr562=)
 dbSNP gnomAD v2 gnomAD v4
2g.26480953_26480962dupCA531762010OTOFc.1632_1641dup (p.Leu548Ter)
c.1677_1686dup (p.Leu563Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.26480949G>ACA1564206OTOFc.1640C>T (p.Thr547Met)
c.1685C>T (p.Thr562Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480949G>CCA346133530OTOFc.1640C>G (p.Thr547Arg)
c.1685C>G (p.Thr562Arg)
2g.26480949G=CA1239827863OTOFc.1640C= (p.Thr547=)
c.1685C= (p.Thr562=)
2g.26480949G>TCA1564207OTOFc.1640C>A (p.Thr547Lys)
c.1685C>A (p.Thr562Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480950T>ACA346133540OTOFc.1639A>T (p.Thr547Ser)
c.1684A>T (p.Thr562Ser)
2g.26480950T>CCA346133535OTOFc.1639A>G (p.Thr547Ala)
c.1684A>G (p.Thr562Ala)
 gnomAD v4
2g.26480950T>GCA346133537OTOFc.1639A>C (p.Thr547Pro)
c.1684A>C (p.Thr562Pro)
2g.26480951G>ACA425206102OTOFc.1638C>T (p.Tyr546=)
c.1683C>T (p.Tyr561=)
 gnomAD v4
2g.26480951G>CCA346133543OTOFc.1638C>G (p.Tyr546Ter)
c.1683C>G (p.Tyr561Ter)
2g.26480951G>TCA346133544OTOFc.1638C>A (p.Tyr546Ter)
c.1683C>A (p.Tyr561Ter)
2g.26480952T>ACA346133545OTOFc.1637A>T (p.Tyr546Phe)
c.1682A>T (p.Tyr561Phe)
 dbSNP
2g.26480952T>CCA346133546OTOFc.1637A>G (p.Tyr546Cys)
c.1682A>G (p.Tyr561Cys)
2g.26480952T>GCA346133548OTOFc.1637A>C (p.Tyr546Ser)
c.1682A>C (p.Tyr561Ser)
2g.26480952T=CA1239827865OTOFc.1637A= (p.Tyr546=)
c.1682A= (p.Tyr561=)
2g.26480953A>CCA346133550OTOFc.1636T>G (p.Tyr546Asp)
c.1681T>G (p.Tyr561Asp)
2g.26480953A>GCA346133555OTOFc.1636T>C (p.Tyr546His)
c.1681T>C (p.Tyr561His)
2g.26480953A>TCA346133553OTOFc.1636T>A (p.Tyr546Asn)
c.1681T>A (p.Tyr561Asn)
2g.26480954G>ACA425206103OTOFc.1635C>T (p.Asn545=)
c.1680C>T (p.Asn560=)
 gnomAD v4
2g.26480954G>CCA346133559OTOFc.1635C>G (p.Asn545Lys)
c.1680C>G (p.Asn560Lys)
2g.26480954G=CA1239827868OTOFc.1635C= (p.Asn545=)
c.1680C= (p.Asn560=)
2g.26480954G>TCA346133561OTOFc.1635C>A (p.Asn545Lys)
c.1680C>A (p.Asn560Lys)
 dbSNP gnomAD v4
2g.26480954_26480956delinsGTTCA1239827867OTOFc.1633_1635delinsAAC (p.Asn545=)
c.1678_1680delinsAAC (p.Asn560=)
2g.26480954_26480955insATCTCGGTGGTCGCCGTATCACA1028609645OTOFc.1634_1635insTGATACGGCGACCACCGAGAT (p.Asn545_Tyr546insAspThrAlaThrThrGluIle)
c.1679_1680insTGATACGGCGACCACCGAGAT (p.Asn560_Tyr561insAspThrAlaThrThrGluIle)
 gnomAD v3 gnomAD v4
2g.26480955T>ACA346133565OTOFc.1634A>T (p.Asn545Ile)
c.1679A>T (p.Asn560Ile)
2g.26480955T>CCA346133567OTOFc.1634A>G (p.Asn545Ser)
c.1679A>G (p.Asn560Ser)
2g.26480955T>GCA346133569OTOFc.1634A>C (p.Asn545Thr)
c.1679A>C (p.Asn560Thr)
2g.26480955_26480956delCA531762011OTOFc.1633_1634del (p.Asn545LeufsTer6)
c.1678_1679del (p.Asn560LeufsTer6)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480956T>ACA346133573OTOFc.1633A>T (p.Asn545Tyr)
c.1678A>T (p.Asn560Tyr)
2g.26480956T>CCA346133574OTOFc.1633A>G (p.Asn545Asp)
c.1678A>G (p.Asn560Asp)
2g.26480956T>GCA346133576OTOFc.1633A>C (p.Asn545His)
c.1678A>C (p.Asn560His)
2g.26480957A>CCA425206107OTOFc.1632T>G (p.Arg544=)
c.1677T>G (p.Arg559=)
2g.26480957A>GCA425206108OTOFc.1632T>C (p.Arg544=)
c.1677T>C (p.Arg559=)
2g.26480957A>TCA425206109OTOFc.1632T>A (p.Arg544=)
c.1677T>A (p.Arg559=)
 ClinVar
2g.26480957_26480958insAAAAACA1028609649OTOFc.1632_1633insTTTTT (p.Asn545PhefsTer13)
c.1677_1678insTTTTT (p.Asn560PhefsTer13)
 gnomAD v3 gnomAD v4
2g.26480957_26480958insTCTCA1028609659OTOFc.1631_1632insAGA (p.Arg544_Asn545insAsp)
c.1676_1677insAGA (p.Arg559_Asn560insAsp)
 gnomAD v3 gnomAD v4
2g.26480958C>ACA346133579OTOFc.1631G>T (p.Arg544Leu)
c.1676G>T (p.Arg559Leu)
2g.26480958C=CA1239827870OTOFc.1631G= (p.Arg544=)
c.1676G= (p.Arg559=)
2g.26480958C>GCA346133581OTOFc.1631G>C (p.Arg544Pro)
c.1676G>C (p.Arg559Pro)
 gnomAD v4
2g.26480958C>TCA1564208OTOFc.1631G>A (p.Arg544His)
c.1676G>A (p.Arg559His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480959G>ACA142756OTOFc.1630C>T (p.Arg544Cys)
c.1675C>T (p.Arg559Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480959G>CCA346133587OTOFc.1630C>G (p.Arg544Gly)
c.1675C>G (p.Arg559Gly)
2g.26480959G=CA1239827872OTOFc.1630C= (p.Arg544=)
c.1675C= (p.Arg559=)
2g.26480959G>TCA346133585OTOFc.1630C>A (p.Arg544Ser)
c.1675C>A (p.Arg559Ser)
 gnomAD v4
2g.26480960delCA1028609673OTOFc.1629del (p.Arg544ValfsTer12)
c.1674del (p.Arg559ValfsTer12)
 gnomAD v3 gnomAD v4
2g.26480960T>ACA425206114OTOFc.1629A>T (p.Thr543=)
c.1674A>T (p.Thr558=)
2g.26480960T>CCA425206115OTOFc.1629A>G (p.Thr543=)
c.1674A>G (p.Thr558=)
 gnomAD v4
2g.26480960T>GCA425206116OTOFc.1629A>C (p.Thr543=)
c.1674A>C (p.Thr558=)
2g.26480961G>ACA346133590OTOFc.1628C>T (p.Thr543Ile)
c.1673C>T (p.Thr558Ile)
2g.26480961G>CCA346133596OTOFc.1628C>G (p.Thr543Arg)
c.1673C>G (p.Thr558Arg)
 gnomAD v4
2g.26480961G=CA1239827876OTOFc.1628C= (p.Thr543=)
c.1673C= (p.Thr558=)
2g.26480961G>TCA1564209OTOFc.1628C>A (p.Thr543Lys)
c.1673C>A (p.Thr558Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480962T>ACA346133602OTOFc.1627A>T (p.Thr543Ser)
c.1672A>T (p.Thr558Ser)
2g.26480962T>CCA346133604OTOFc.1627A>G (p.Thr543Ala)
c.1672A>G (p.Thr558Ala)
2g.26480962T>GCA346133606OTOFc.1627A>C (p.Thr543Pro)
c.1672A>C (p.Thr558Pro)
2g.26480963G>ACA425206123OTOFc.1626C>T (p.Ser542=)
c.1671C>T (p.Ser557=)
 dbSNP gnomAD v3 gnomAD v4
2g.26480963G>CCA425206124OTOFc.1626C>G (p.Ser542=)
c.1671C>G (p.Ser557=)
2g.26480963G=CA1239827878OTOFc.1626C= (p.Ser542=)
c.1671C= (p.Ser557=)
2g.26480963G>TCA425206122OTOFc.1626C>A (p.Ser542=)
c.1671C>A (p.Ser557=)
2g.26480964G>ACA346133615OTOFc.1625C>T (p.Ser542Phe)
c.1670C>T (p.Ser557Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.26480964G>CCA346133612OTOFc.1625C>G (p.Ser542Cys)
c.1670C>G (p.Ser557Cys)
 gnomAD v4
2g.26480964G=CA1239827880OTOFc.1625C= (p.Ser542=)
c.1670C= (p.Ser557=)
2g.26480964G>TCA346133610OTOFc.1625C>A (p.Ser542Tyr)
c.1670C>A (p.Ser557Tyr)
2g.26480964_26480965insTCA1028609677OTOFc.1624_1625insA (p.Ser542TyrfsTer4)
c.1669_1670insA (p.Ser557TyrfsTer4)
 gnomAD v3 gnomAD v4
2g.26480965A>CCA346133619OTOFc.1624T>G (p.Ser542Ala)
c.1669T>G (p.Ser557Ala)
 gnomAD v3 gnomAD v4
2g.26480965A>GCA346133621OTOFc.1624T>C (p.Ser542Pro)
c.1669T>C (p.Ser557Pro)
2g.26480965A>TCA346133623OTOFc.1624T>A (p.Ser542Thr)
c.1669T>A (p.Ser557Thr)
2g.26480966G>ACA425206130OTOFc.1623C>T (p.Gly541=)
c.1668C>T (p.Gly556=)
 dbSNP
2g.26480966G>CCA425206131OTOFc.1623C>G (p.Gly541=)
c.1668C>G (p.Gly556=)
2g.26480966G=CA1239827882OTOFc.1623C= (p.Gly541=)
c.1668C= (p.Gly556=)
2g.26480966G>TCA425206132OTOFc.1623C>A (p.Gly541=)
c.1668C>A (p.Gly556=)
2g.26480967C>ACA346133625OTOFc.1622G>T (p.Gly541Val)
c.1667G>T (p.Gly556Val)
2g.26480967C=CA1239827884OTOFc.1622G= (p.Gly541=)
c.1667G= (p.Gly556=)
2g.26480967C>GCA346133629OTOFc.1622G>C (p.Gly541Ala)
c.1667G>C (p.Gly556Ala)
2g.26480967C>TCA346133631OTOFc.1622G>A (p.Gly541Asp)
c.1667G>A (p.Gly556Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.26480968C>ACA346133634OTOFc.1621G>T (p.Gly541Cys)
c.1666G>T (p.Gly556Cys)
2g.26480968C=CA1239827886OTOFc.1621G= (p.Gly541=)
c.1666G= (p.Gly556=)
2g.26480968C>GCA346133636OTOFc.1621G>C (p.Gly541Arg)
c.1666G>C (p.Gly556Arg)
2g.26480968C>TCA261250OTOFc.1621G>A (p.Gly541Ser)
c.1666G>A (p.Gly556Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480969G>ACA1564210OTOFc.1620C>T (p.Tyr540=)
c.1665C>T (p.Tyr555=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26480969G>CCA346133646OTOFc.1620C>G (p.Tyr540Ter)
c.1665C>G (p.Tyr555Ter)
2g.26480969G=CA1239827891OTOFc.1620C= (p.Tyr540=)
c.1665C= (p.Tyr555=)
2g.26480969G>TCA346133650OTOFc.1620C>A (p.Tyr540Ter)
c.1665C>A (p.Tyr555Ter)
2g.26480970T>ACA346133658OTOFc.1619A>T (p.Tyr540Phe)
c.1664A>T (p.Tyr555Phe)
2g.26480970T>CCA346133661OTOFc.1619A>G (p.Tyr540Cys)
c.1664A>G (p.Tyr555Cys)
2g.26480970T>GCA346133665OTOFc.1619A>C (p.Tyr540Ser)
c.1664A>C (p.Tyr555Ser)
2g.26480971A=CA1239827893OTOFc.1618T= (p.Tyr540=)
c.1663T= (p.Tyr555=)
2g.26480971A>CCA346133669OTOFc.1618T>G (p.Tyr540Asp)
c.1663T>G (p.Tyr555Asp)
2g.26480971A>GCA346133672OTOFc.1618T>C (p.Tyr540His)
c.1663T>C (p.Tyr555His)
2g.26480971A>TCA346133675OTOFc.1618T>A (p.Tyr540Asn)
c.1663T>A (p.Tyr555Asn)
 dbSNP
2g.26480971_26480972insTCA1028609680OTOFc.1617_1618insA (p.Tyr540IlefsTer6)
c.1662_1663insA (p.Tyr555IlefsTer6)
 gnomAD v3 gnomAD v4
2g.26480972C>ACA346133678OTOFc.1617G>T (p.Met539Ile)
c.1662G>T (p.Met554Ile)
2g.26480972C>GCA346133681OTOFc.1617G>C (p.Met539Ile)
c.1662G>C (p.Met554Ile)
 gnomAD v4
2g.26480972C>TCA346133683OTOFc.1617G>A (p.Met539Ile)
c.1662G>A (p.Met554Ile)
 gnomAD v4
2g.26480973A=CA1239827895OTOFc.1616T= (p.Met539=)
c.1661T= (p.Met554=)
2g.26480973A>CCA346133687OTOFc.1616T>G (p.Met539Arg)
c.1661T>G (p.Met554Arg)
2g.26480973A>GCA1564211OTOFc.1616T>C (p.Met539Thr)
c.1661T>C (p.Met554Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480973A>TCA346133688OTOFc.1616T>A (p.Met539Lys)
c.1661T>A (p.Met554Lys)
2g.26480974T>ACA346133690OTOFc.1615A>T (p.Met539Leu)
c.1660A>T (p.Met554Leu)
2g.26480974T>CCA346133691OTOFc.1615A>G (p.Met539Val)
c.1660A>G (p.Met554Val)
 dbSNP gnomAD v4
2g.26480974T>GCA346133694OTOFc.1615A>C (p.Met539Leu)
c.1660A>C (p.Met554Leu)
2g.26480974T=CA1239827898OTOFc.1615A= (p.Met539=)
c.1660A= (p.Met554=)
2g.26480975_26480976delCA1028609685OTOFc.1614_1615del (p.Met539ValfsTer6)
c.1659_1660del (p.Met554ValfsTer6)
 gnomAD v3 gnomAD v4
2g.26480975G>ACA425206149OTOFc.1614C>T (p.Asn538=)
c.1659C>T (p.Asn553=)
2g.26480975G>CCA346133697OTOFc.1614C>G (p.Asn538Lys)
c.1659C>G (p.Asn553Lys)
2g.26480975G=CA1239827902OTOFc.1614C= (p.Asn538=)
c.1659C= (p.Asn553=)
2g.26480975G>TCA142754OTOFc.1614C>A (p.Asn538Lys)
c.1659C>A (p.Asn553Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26480976T>ACA346133702OTOFc.1613A>T (p.Asn538Ile)
c.1658A>T (p.Asn553Ile)
2g.26480976T>CCA1564212OTOFc.1613A>G (p.Asn538Ser)
c.1658A>G (p.Asn553Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480976T>GCA346133709OTOFc.1613A>C (p.Asn538Thr)
c.1658A>C (p.Asn553Thr)
2g.26480976T=CA1239827907OTOFc.1613A= (p.Asn538=)
c.1658A= (p.Asn553=)
2g.26480977T>ACA346133711OTOFc.1612A>T (p.Asn538Tyr)
c.1657A>T (p.Asn553Tyr)
2g.26480977T>CCA346133715OTOFc.1612A>G (p.Asn538Asp)
c.1657A>G (p.Asn553Asp)
2g.26480977T>GCA346133718OTOFc.1612A>C (p.Asn538His)
c.1657A>C (p.Asn553His)
2g.26480978C>ACA425206155OTOFc.1611G>T (p.Val537=)
c.1656G>T (p.Val552=)
 gnomAD v3 gnomAD v4
2g.26480978C>GCA425206156OTOFc.1611G>C (p.Val537=)
c.1656G>C (p.Val552=)
2g.26480978C>TCA425206157OTOFc.1611G>A (p.Val537=)
c.1656G>A (p.Val552=)
2g.26480979A>CCA346133732OTOFc.1610T>G (p.Val537Gly)
c.1655T>G (p.Val552Gly)
2g.26480979A>GCA346133729OTOFc.1610T>C (p.Val537Ala)
c.1655T>C (p.Val552Ala)
 gnomAD v4
2g.26480979A>TCA346133725OTOFc.1610T>A (p.Val537Glu)
c.1655T>A (p.Val552Glu)
2g.26480979_26480980delinsACCA1239827909OTOFc.1609_1610delinsGT (p.Val537=)
c.1654_1655delinsGT (p.Val552=)
2g.26480980C>ACA346133737OTOFc.1609G>T (p.Val537Leu)
c.1654G>T (p.Val552Leu)
 gnomAD v3 gnomAD v4
2g.26480980C=CA1239827912OTOFc.1609G= (p.Val537=)
c.1654G= (p.Val552=)
2g.26480980C>GCA346133740OTOFc.1609G>C (p.Val537Leu)
c.1654G>C (p.Val552Leu)
2g.26480980C>TCA346133744OTOFc.1609G>A (p.Val537Met)
c.1654G>A (p.Val552Met)
 dbSNP
2g.26480982delCA345092OTOFc.1609del (p.Val537Ter)
c.1654del (p.Val552Ter)
 ClinVar dbSNP
2g.26480981C>ACA346133749OTOFc.1608G>T (p.Trp536Cys)
c.1653G>T (p.Trp551Cys)
 gnomAD v3 gnomAD v4
2g.26480981C>GCA346133753OTOFc.1608G>C (p.Trp536Cys)
c.1653G>C (p.Trp551Cys)
 gnomAD v4
2g.26480981C>TCA346133756OTOFc.1608G>A (p.Trp536Ter)
c.1653G>A (p.Trp551Ter)
 gnomAD v4
2g.26480982C>ACA346133759OTOFc.1607G>T (p.Trp536Leu)
c.1652G>T (p.Trp551Leu)
 gnomAD v3 gnomAD v4
2g.26480982C=CA1239827914OTOFc.1607G= (p.Trp536=)
c.1652G= (p.Trp551=)
2g.26480982C>GCA1564213OTOFc.1607G>C (p.Trp536Ser)
c.1652G>C (p.Trp551Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26480982C>TCA345090OTOFc.1607G>A (p.Trp536Ter)
c.1652G>A (p.Trp551Ter)
 ClinVar dbSNP gnomAD v4
2g.26480983A>CCA346133783OTOFc.1606T>G (p.Trp536Gly)
c.1651T>G (p.Trp551Gly)
2g.26480983A>GCA346133787OTOFc.1606T>C (p.Trp536Arg)
c.1651T>C (p.Trp551Arg)
 gnomAD v4
2g.26480983A>TCA346133790OTOFc.1606T>A (p.Trp536Arg)
c.1651T>A (p.Trp551Arg)
2g.26480984G>ACA425206170OTOFc.1605C>T (p.Ala535=)
c.1650C>T (p.Ala550=)
2g.26480984G>CCA425206171OTOFc.1605C>G (p.Ala535=)
c.1650C>G (p.Ala550=)
 dbSNP gnomAD v4
2g.26480984G=CA1239827916OTOFc.1605C= (p.Ala535=)
c.1650C= (p.Ala550=)
2g.26480984G>TCA425206172OTOFc.1605C>A (p.Ala535=)
c.1650C>A (p.Ala550=)
2g.26480985G>ACA346133796OTOFc.1604C>T (p.Ala535Val)
c.1649C>T (p.Ala550Val)
 gnomAD v4
2g.26480985G>CCA346133799OTOFc.1604C>G (p.Ala535Gly)
c.1649C>G (p.Ala550Gly)
2g.26480985G>TCA346133793OTOFc.1604C>A (p.Ala535Asp)
c.1649C>A (p.Ala550Asp)

Number of alleles fetched