Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.50711950G>ACA395870662NOD2c.1958G>A (p.Gly653Glu)
c.2039G>A (p.Gly680Glu)
c.1535G>A (p.Gly512Glu)
c.1373G>A (p.Gly458Glu)
n.2048G>A
c.1466G>A (p.Gly489Glu)
n.2001G>A
n.2023G>A
16g.50711950G>CCA395870661NOD2c.1958G>C (p.Gly653Ala)
c.2039G>C (p.Gly680Ala)
c.1535G>C (p.Gly512Ala)
c.1373G>C (p.Gly458Ala)
n.2048G>C
c.1466G>C (p.Gly489Ala)
n.2001G>C
n.2023G>C
16g.50711950G>TCA395870659NOD2c.1958G>T (p.Gly653Val)
c.2039G>T (p.Gly680Val)
c.1535G>T (p.Gly512Val)
c.1373G>T (p.Gly458Val)
n.2048G>T
c.1466G>T (p.Gly489Val)
n.2001G>T
n.2023G>T
16g.50711951G>ACA8051679NOD2c.1959G>A (p.Gly653=)
c.2040G>A (p.Gly680=)
c.1536G>A (p.Gly512=)
c.1374G>A (p.Gly458=)
n.2049G>A
c.1467G>A (p.Gly489=)
n.2002G>A
n.2024G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50711951G>CCA495779274NOD2c.1959G>C (p.Gly653=)
c.2040G>C (p.Gly680=)
c.1536G>C (p.Gly512=)
c.1374G>C (p.Gly458=)
n.2049G>C
c.1467G>C (p.Gly489=)
n.2002G>C
n.2024G>C
16g.50711951G=CA2221862375NOD2c.1959G= (p.Gly653=)
c.2040G= (p.Gly680=)
c.1536G= (p.Gly512=)
c.1374G= (p.Gly458=)
n.2049G=
c.1467G= (p.Gly489=)
n.2002G=
n.2024G=
16g.50711951G>TCA495779273NOD2c.1959G>T (p.Gly653=)
c.2040G>T (p.Gly680=)
c.1536G>T (p.Gly512=)
c.1374G>T (p.Gly458=)
n.2049G>T
c.1467G>T (p.Gly489=)
n.2002G>T
n.2024G>T
16g.50711952C>ACA395870668NOD2c.1960C>A (p.Leu654Met)
c.2041C>A (p.Leu681Met)
c.1537C>A (p.Leu513Met)
c.1375C>A (p.Leu459Met)
n.2050C>A
c.1468C>A (p.Leu490Met)
n.2003C>A
n.2025C>A
16g.50711952C=CA2221862378NOD2c.1960C= (p.Leu654=)
c.2041C= (p.Leu681=)
c.1537C= (p.Leu513=)
c.1375C= (p.Leu459=)
n.2050C=
c.1468C= (p.Leu490=)
n.2003C=
n.2025C=
16g.50711952C>GCA395870665NOD2c.1960C>G (p.Leu654Val)
c.2041C>G (p.Leu681Val)
c.1537C>G (p.Leu513Val)
c.1375C>G (p.Leu459Val)
n.2050C>G
c.1468C>G (p.Leu490Val)
n.2003C>G
n.2025C>G
 gnomAD v4
16g.50711952C>TCA8051680NOD2c.1960C>T (p.Leu654=)
c.2041C>T (p.Leu681=)
c.1537C>T (p.Leu513=)
c.1375C>T (p.Leu459=)
n.2050C>T
c.1468C>T (p.Leu490=)
n.2003C>T
n.2025C>T
 dbSNP ExAC gnomAD v2
16g.50711953T>ACA395870669NOD2c.1961T>A (p.Leu654Gln)
c.2042T>A (p.Leu681Gln)
c.1538T>A (p.Leu513Gln)
c.1376T>A (p.Leu459Gln)
n.2051T>A
c.1469T>A (p.Leu490Gln)
n.2004T>A
n.2026T>A
16g.50711953T>CCA395870670NOD2c.1961T>C (p.Leu654Pro)
c.2042T>C (p.Leu681Pro)
c.1538T>C (p.Leu513Pro)
c.1376T>C (p.Leu459Pro)
n.2051T>C
c.1469T>C (p.Leu490Pro)
n.2004T>C
n.2026T>C
16g.50711953T>GCA395870672NOD2c.1961T>G (p.Leu654Arg)
c.2042T>G (p.Leu681Arg)
c.1538T>G (p.Leu513Arg)
c.1376T>G (p.Leu459Arg)
n.2051T>G
c.1469T>G (p.Leu490Arg)
n.2004T>G
n.2026T>G
16g.50711954G>ACA495779278NOD2c.1962G>A (p.Leu654=)
c.2043G>A (p.Leu681=)
c.1539G>A (p.Leu513=)
c.1377G>A (p.Leu459=)
n.2052G>A
c.1470G>A (p.Leu490=)
n.2005G>A
n.2027G>A
 dbSNP gnomAD v3 gnomAD v4
16g.50711954G>CCA495779279NOD2c.1962G>C (p.Leu654=)
c.2043G>C (p.Leu681=)
c.1539G>C (p.Leu513=)
c.1377G>C (p.Leu459=)
n.2052G>C
c.1470G>C (p.Leu490=)
n.2005G>C
n.2027G>C
16g.50711954G=CA2221862383NOD2c.1962G= (p.Leu654=)
c.2043G= (p.Leu681=)
c.1539G= (p.Leu513=)
c.1377G= (p.Leu459=)
n.2052G=
c.1470G= (p.Leu490=)
n.2005G=
n.2027G=
16g.50711954G>TCA495779280NOD2c.1962G>T (p.Leu654=)
c.2043G>T (p.Leu681=)
c.1539G>T (p.Leu513=)
c.1377G>T (p.Leu459=)
n.2052G>T
c.1470G>T (p.Leu490=)
n.2005G>T
n.2027G>T
16g.50711955T>ACA395870675NOD2c.1963T>A (p.Leu655Met)
c.2044T>A (p.Leu682Met)
c.1540T>A (p.Leu514Met)
c.1378T>A (p.Leu460Met)
n.2053T>A
c.1471T>A (p.Leu491Met)
n.2006T>A
n.2028T>A
16g.50711955T>CCA495779281NOD2c.1963T>C (p.Leu655=)
c.2044T>C (p.Leu682=)
c.1540T>C (p.Leu514=)
c.1378T>C (p.Leu460=)
n.2053T>C
c.1471T>C (p.Leu491=)
n.2006T>C
n.2028T>C
16g.50711955T>GCA395870676NOD2c.1963T>G (p.Leu655Val)
c.2044T>G (p.Leu682Val)
c.1540T>G (p.Leu514Val)
c.1378T>G (p.Leu460Val)
n.2053T>G
c.1471T>G (p.Leu491Val)
n.2006T>G
n.2028T>G
16g.50711956T>ACA395870678NOD2c.1964T>A (p.Leu655Ter)
c.2045T>A (p.Leu682Ter)
c.1541T>A (p.Leu514Ter)
c.1379T>A (p.Leu460Ter)
n.2054T>A
c.1472T>A (p.Leu491Ter)
n.2007T>A
n.2029T>A
16g.50711956T>CCA395870680NOD2c.1964T>C (p.Leu655Ser)
c.2045T>C (p.Leu682Ser)
c.1541T>C (p.Leu514Ser)
c.1379T>C (p.Leu460Ser)
n.2054T>C
c.1472T>C (p.Leu491Ser)
n.2007T>C
n.2029T>C
16g.50711956T>GCA395870681NOD2c.1964T>G (p.Leu655Trp)
c.2045T>G (p.Leu682Trp)
c.1541T>G (p.Leu514Trp)
c.1379T>G (p.Leu460Trp)
n.2054T>G
c.1472T>G (p.Leu491Trp)
n.2007T>G
n.2029T>G
16g.50711957delCA2633164534NOD2c.1965del (p.Leu655PhefsTer?)
c.2046del (p.Leu682PhefsTer?)
c.1542del (p.Leu514PhefsTer?)
c.1380del (p.Leu460PhefsTer?)
n.2055del
c.1473del (p.Leu491PhefsTer?)
n.2008del
n.2030del
 gnomAD v4
16g.50711957G>ACA495779285NOD2c.1965G>A (p.Leu655=)
c.2046G>A (p.Leu682=)
c.1542G>A (p.Leu514=)
c.1380G>A (p.Leu460=)
n.2055G>A
c.1473G>A (p.Leu491=)
n.2008G>A
n.2030G>A
16g.50711957G>CCA395870683NOD2c.1965G>C (p.Leu655Phe)
c.2046G>C (p.Leu682Phe)
c.1542G>C (p.Leu514Phe)
c.1380G>C (p.Leu460Phe)
n.2055G>C
c.1473G>C (p.Leu491Phe)
n.2008G>C
n.2030G>C
16g.50711957G=CA2221862389NOD2c.1965G= (p.Leu655=)
c.2046G= (p.Leu682=)
c.1542G= (p.Leu514=)
c.1380G= (p.Leu460=)
n.2055G=
c.1473G= (p.Leu491=)
n.2008G=
n.2030G=
16g.50711957G>TCA8051681NOD2c.1965G>T (p.Leu655Phe)
c.2046G>T (p.Leu682Phe)
c.1542G>T (p.Leu514Phe)
c.1380G>T (p.Leu460Phe)
n.2055G>T
c.1473G>T (p.Leu491Phe)
n.2008G>T
n.2030G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50711958T>ACA395870691NOD2c.1966T>A (p.Ser656Thr)
c.2047T>A (p.Ser683Thr)
c.1543T>A (p.Ser515Thr)
c.1381T>A (p.Ser461Thr)
n.2056T>A
c.1474T>A (p.Ser492Thr)
n.2009T>A
n.2031T>A
16g.50711958T>CCA395870687NOD2c.1966T>C (p.Ser656Pro)
c.2047T>C (p.Ser683Pro)
c.1543T>C (p.Ser515Pro)
c.1381T>C (p.Ser461Pro)
n.2056T>C
c.1474T>C (p.Ser492Pro)
n.2009T>C
n.2031T>C
16g.50711958T>GCA395870689NOD2c.1966T>G (p.Ser656Ala)
c.2047T>G (p.Ser683Ala)
c.1543T>G (p.Ser515Ala)
c.1381T>G (p.Ser461Ala)
n.2056T>G
c.1474T>G (p.Ser492Ala)
n.2009T>G
n.2031T>G
16g.50711959C>ACA395870693NOD2c.1967C>A (p.Ser656Tyr)
c.2048C>A (p.Ser683Tyr)
c.1544C>A (p.Ser515Tyr)
c.1382C>A (p.Ser461Tyr)
n.2057C>A
c.1475C>A (p.Ser492Tyr)
n.2010C>A
n.2032C>A
 dbSNP gnomAD v2 gnomAD v4
16g.50711959C=CA2221862394NOD2c.1967C= (p.Ser656=)
c.2048C= (p.Ser683=)
c.1544C= (p.Ser515=)
c.1382C= (p.Ser461=)
n.2057C=
c.1475C= (p.Ser492=)
n.2010C=
n.2032C=
16g.50711959C>GCA395870695NOD2c.1967C>G (p.Ser656Cys)
c.2048C>G (p.Ser683Cys)
c.1544C>G (p.Ser515Cys)
c.1382C>G (p.Ser461Cys)
n.2057C>G
c.1475C>G (p.Ser492Cys)
n.2010C>G
n.2032C>G
16g.50711959C>TCA395870696NOD2c.1967C>T (p.Ser656Phe)
c.2048C>T (p.Ser683Phe)
c.1544C>T (p.Ser515Phe)
c.1382C>T (p.Ser461Phe)
n.2057C>T
c.1475C>T (p.Ser492Phe)
n.2010C>T
n.2032C>T
16g.50711960C>ACA495779287NOD2c.1968C>A (p.Ser656=)
c.2049C>A (p.Ser683=)
c.1545C>A (p.Ser515=)
c.1383C>A (p.Ser461=)
n.2058C>A
c.1476C>A (p.Ser492=)
n.2011C>A
n.2033C>A
16g.50711960C=CA2221862396NOD2c.1968C= (p.Ser656=)
c.2049C= (p.Ser683=)
c.1545C= (p.Ser515=)
c.1383C= (p.Ser461=)
n.2058C=
c.1476C= (p.Ser492=)
n.2011C=
n.2033C=
16g.50711960C>GCA495779288NOD2c.1968C>G (p.Ser656=)
c.2049C>G (p.Ser683=)
c.1545C>G (p.Ser515=)
c.1383C>G (p.Ser461=)
n.2058C>G
c.1476C>G (p.Ser492=)
n.2011C>G
n.2033C>G
 dbSNP gnomAD v3 gnomAD v4
16g.50711960C>TCA495779289NOD2c.1968C>T (p.Ser656=)
c.2049C>T (p.Ser683=)
c.1545C>T (p.Ser515=)
c.1383C>T (p.Ser461=)
n.2058C>T
c.1476C>T (p.Ser492=)
n.2011C>T
n.2033C>T
16g.50711961C>ACA495779290NOD2c.1969C>A (p.Arg657=)
c.2050C>A (p.Arg684=)
c.1546C>A (p.Arg516=)
c.1384C>A (p.Arg462=)
n.2059C>A
c.1477C>A (p.Arg493=)
n.2012C>A
n.2034C>A
16g.50711961C=CA2221862400NOD2c.1969C= (p.Arg657=)
c.2050C= (p.Arg684=)
c.1546C= (p.Arg516=)
c.1384C= (p.Arg462=)
n.2059C=
c.1477C= (p.Arg493=)
n.2012C=
n.2034C=
16g.50711961C>GCA8051683NOD2c.1969C>G (p.Arg657Gly)
c.2050C>G (p.Arg684Gly)
c.1546C>G (p.Arg516Gly)
c.1384C>G (p.Arg462Gly)
n.2059C>G
c.1477C>G (p.Arg493Gly)
n.2012C>G
n.2034C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50711961C>TCA8051682NOD2c.1969C>T (p.Arg657Trp)
c.2050C>T (p.Arg684Trp)
c.1546C>T (p.Arg516Trp)
c.1384C>T (p.Arg462Trp)
n.2059C>T
c.1477C>T (p.Arg493Trp)
n.2012C>T
n.2034C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50711962G>ACA8051684NOD2c.1970G>A (p.Arg657Gln)
c.2051G>A (p.Arg684Gln)
c.1547G>A (p.Arg516Gln)
c.1385G>A (p.Arg462Gln)
n.2060G>A
c.1478G>A (p.Arg493Gln)
n.2013G>A
n.2035G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50711962G>CCA395870699NOD2c.1970G>C (p.Arg657Pro)
c.2051G>C (p.Arg684Pro)
c.1547G>C (p.Arg516Pro)
c.1385G>C (p.Arg462Pro)
n.2060G>C
c.1478G>C (p.Arg493Pro)
n.2013G>C
n.2035G>C
 dbSNP gnomAD v3 gnomAD v4
16g.50711962G=CA2221862406NOD2c.1970G= (p.Arg657=)
c.2051G= (p.Arg684=)
c.1547G= (p.Arg516=)
c.1385G= (p.Arg462=)
n.2060G=
c.1478G= (p.Arg493=)
n.2013G=
n.2035G=
16g.50711962G>TCA395870701NOD2c.1970G>T (p.Arg657Leu)
c.2051G>T (p.Arg684Leu)
c.1547G>T (p.Arg516Leu)
c.1385G>T (p.Arg462Leu)
n.2060G>T
c.1478G>T (p.Arg493Leu)
n.2013G>T
n.2035G>T
 gnomAD v4
16g.50711963G>ACA495779291NOD2c.1971G>A (p.Arg657=)
c.2052G>A (p.Arg684=)
c.1548G>A (p.Arg516=)
c.1386G>A (p.Arg462=)
n.2061G>A
c.1479G>A (p.Arg493=)
n.2014G>A
n.2036G>A
16g.50711963G>CCA495779292NOD2c.1971G>C (p.Arg657=)
c.2052G>C (p.Arg684=)
c.1548G>C (p.Arg516=)
c.1386G>C (p.Arg462=)
n.2061G>C
c.1479G>C (p.Arg493=)
n.2014G>C
n.2036G>C
16g.50711963G>TCA495779293NOD2c.1971G>T (p.Arg657=)
c.2052G>T (p.Arg684=)
c.1548G>T (p.Arg516=)
c.1386G>T (p.Arg462=)
n.2061G>T
c.1479G>T (p.Arg493=)
n.2014G>T
n.2036G>T
16g.50711964G>ACA395870703NOD2c.1972G>A (p.Glu658Lys)
c.2053G>A (p.Glu685Lys)
c.1549G>A (p.Glu517Lys)
c.1387G>A (p.Glu463Lys)
n.2062G>A
c.1480G>A (p.Glu494Lys)
n.2015G>A
n.2037G>A
16g.50711964G>CCA395870704NOD2c.1972G>C (p.Glu658Gln)
c.2053G>C (p.Glu685Gln)
c.1549G>C (p.Glu517Gln)
c.1387G>C (p.Glu463Gln)
n.2062G>C
c.1480G>C (p.Glu494Gln)
n.2015G>C
n.2037G>C
16g.50711964G>TCA395870706NOD2c.1972G>T (p.Glu658Ter)
c.2053G>T (p.Glu685Ter)
c.1549G>T (p.Glu517Ter)
c.1387G>T (p.Glu463Ter)
n.2062G>T
c.1480G>T (p.Glu494Ter)
n.2015G>T
n.2037G>T
16g.50711965A>CCA395870712NOD2c.1973A>C (p.Glu658Ala)
c.2054A>C (p.Glu685Ala)
c.1550A>C (p.Glu517Ala)
c.1388A>C (p.Glu463Ala)
n.2063A>C
c.1481A>C (p.Glu494Ala)
n.2016A>C
n.2038A>C
16g.50711965A>GCA395870710NOD2c.1973A>G (p.Glu658Gly)
c.2054A>G (p.Glu685Gly)
c.1550A>G (p.Glu517Gly)
c.1388A>G (p.Glu463Gly)
n.2063A>G
c.1481A>G (p.Glu494Gly)
n.2016A>G
n.2038A>G
16g.50711965A>TCA395870708NOD2c.1973A>T (p.Glu658Val)
c.2054A>T (p.Glu685Val)
c.1550A>T (p.Glu517Val)
c.1388A>T (p.Glu463Val)
n.2063A>T
c.1481A>T (p.Glu494Val)
n.2016A>T
n.2038A>T
16g.50711966G>ACA495779295NOD2c.1974G>A (p.Glu658=)
c.2055G>A (p.Glu685=)
c.1551G>A (p.Glu517=)
c.1389G>A (p.Glu463=)
n.2064G>A
c.1482G>A (p.Glu494=)
n.2017G>A
n.2039G>A
 dbSNP gnomAD v2 gnomAD v4
16g.50711966G>CCA395870714NOD2c.1974G>C (p.Glu658Asp)
c.2055G>C (p.Glu685Asp)
c.1551G>C (p.Glu517Asp)
c.1389G>C (p.Glu463Asp)
n.2064G>C
c.1482G>C (p.Glu494Asp)
n.2017G>C
n.2039G>C
16g.50711966G=CA2221862410NOD2c.1974G= (p.Glu658=)
c.2055G= (p.Glu685=)
c.1551G= (p.Glu517=)
c.1389G= (p.Glu463=)
n.2064G=
c.1482G= (p.Glu494=)
n.2017G=
n.2039G=
16g.50711966G>TCA395870716NOD2c.1974G>T (p.Glu658Asp)
c.2055G>T (p.Glu685Asp)
c.1551G>T (p.Glu517Asp)
c.1389G>T (p.Glu463Asp)
n.2064G>T
c.1482G>T (p.Glu494Asp)
n.2017G>T
n.2039G>T
16g.50711967C>ACA395870718NOD2c.1975C>A (p.His659Asn)
c.2056C>A (p.His686Asn)
c.1552C>A (p.His518Asn)
c.1390C>A (p.His464Asn)
n.2065C>A
c.1483C>A (p.His495Asn)
n.2018C>A
n.2040C>A
16g.50711967C>GCA395870720NOD2c.1975C>G (p.His659Asp)
c.2056C>G (p.His686Asp)
c.1552C>G (p.His518Asp)
c.1390C>G (p.His464Asp)
n.2065C>G
c.1483C>G (p.His495Asp)
n.2018C>G
n.2040C>G
16g.50711967C>TCA395870723NOD2c.1975C>T (p.His659Tyr)
c.2056C>T (p.His686Tyr)
c.1552C>T (p.His518Tyr)
c.1390C>T (p.His464Tyr)
n.2065C>T
c.1483C>T (p.His495Tyr)
n.2018C>T
n.2040C>T
16g.50711968A=CA2221862415NOD2c.1976A= (p.His659=)
c.2057A= (p.His686=)
c.1553A= (p.His518=)
c.1391A= (p.His464=)
n.2066A=
c.1484A= (p.His495=)
n.2019A=
n.2041A=
16g.50711968A>CCA8051685NOD2c.1976A>C (p.His659Pro)
c.2057A>C (p.His686Pro)
c.1553A>C (p.His518Pro)
c.1391A>C (p.His464Pro)
n.2066A>C
c.1484A>C (p.His495Pro)
n.2019A>C
n.2041A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50711968A>GCA395870725NOD2c.1976A>G (p.His659Arg)
c.2057A>G (p.His686Arg)
c.1553A>G (p.His518Arg)
c.1391A>G (p.His464Arg)
n.2066A>G
c.1484A>G (p.His495Arg)
n.2019A>G
n.2041A>G
 dbSNP gnomAD v3 gnomAD v4
16g.50711968A>TCA395870727NOD2c.1976A>T (p.His659Leu)
c.2057A>T (p.His686Leu)
c.1553A>T (p.His518Leu)
c.1391A>T (p.His464Leu)
n.2066A>T
c.1484A>T (p.His495Leu)
n.2019A>T
n.2041A>T
16g.50711969C>ACA395870729NOD2c.1977C>A (p.His659Gln)
c.2058C>A (p.His686Gln)
c.1554C>A (p.His518Gln)
c.1392C>A (p.His464Gln)
n.2067C>A
c.1485C>A (p.His495Gln)
n.2020C>A
n.2042C>A
16g.50711969C>GCA395870731NOD2c.1977C>G (p.His659Gln)
c.2058C>G (p.His686Gln)
c.1554C>G (p.His518Gln)
c.1392C>G (p.His464Gln)
n.2067C>G
c.1485C>G (p.His495Gln)
n.2020C>G
n.2042C>G
16g.50711969C>TCA495779297NOD2c.1977C>T (p.His659=)
c.2058C>T (p.His686=)
c.1554C>T (p.His518=)
c.1392C>T (p.His464=)
n.2067C>T
c.1485C>T (p.His495=)
n.2020C>T
n.2042C>T
16g.50711970T>ACA395870733NOD2c.1978T>A (p.Trp660Arg)
c.2059T>A (p.Trp687Arg)
c.1555T>A (p.Trp519Arg)
c.1393T>A (p.Trp465Arg)
n.2068T>A
c.1486T>A (p.Trp496Arg)
n.2021T>A
n.2043T>A
16g.50711970T>CCA395870735NOD2c.1978T>C (p.Trp660Arg)
c.2059T>C (p.Trp687Arg)
c.1555T>C (p.Trp519Arg)
c.1393T>C (p.Trp465Arg)
n.2068T>C
c.1486T>C (p.Trp496Arg)
n.2021T>C
n.2043T>C
16g.50711970T>GCA395870737NOD2c.1978T>G (p.Trp660Gly)
c.2059T>G (p.Trp687Gly)
c.1555T>G (p.Trp519Gly)
c.1393T>G (p.Trp465Gly)
n.2068T>G
c.1486T>G (p.Trp496Gly)
n.2021T>G
n.2043T>G
16g.50711971G>ACA395870743NOD2c.1979G>A (p.Trp660Ter)
c.2060G>A (p.Trp687Ter)
c.1556G>A (p.Trp519Ter)
c.1394G>A (p.Trp465Ter)
n.2069G>A
c.1487G>A (p.Trp496Ter)
n.2022G>A
n.2044G>A
 gnomAD v4
16g.50711971G>CCA395870739NOD2c.1979G>C (p.Trp660Ser)
c.2060G>C (p.Trp687Ser)
c.1556G>C (p.Trp519Ser)
c.1394G>C (p.Trp465Ser)
n.2069G>C
c.1487G>C (p.Trp496Ser)
n.2022G>C
n.2044G>C
16g.50711971G>TCA395870741NOD2c.1979G>T (p.Trp660Leu)
c.2060G>T (p.Trp687Leu)
c.1556G>T (p.Trp519Leu)
c.1394G>T (p.Trp465Leu)
n.2069G>T
c.1487G>T (p.Trp496Leu)
n.2022G>T
n.2044G>T
16g.50711972G>ACA8051686NOD2c.1980G>A (p.Trp660Ter)
c.2061G>A (p.Trp687Ter)
c.1557G>A (p.Trp519Ter)
c.1395G>A (p.Trp465Ter)
n.2070G>A
c.1488G>A (p.Trp496Ter)
n.2023G>A
n.2045G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50711972G>CCA395870746NOD2c.1980G>C (p.Trp660Cys)
c.2061G>C (p.Trp687Cys)
c.1557G>C (p.Trp519Cys)
c.1395G>C (p.Trp465Cys)
n.2070G>C
c.1488G>C (p.Trp496Cys)
n.2023G>C
n.2045G>C
16g.50711972G=CA2221862420NOD2c.1980G= (p.Trp660=)
c.2061G= (p.Trp687=)
c.1557G= (p.Trp519=)
c.1395G= (p.Trp465=)
n.2070G=
c.1488G= (p.Trp496=)
n.2023G=
n.2045G=
16g.50711972G>TCA395870748NOD2c.1980G>T (p.Trp660Cys)
c.2061G>T (p.Trp687Cys)
c.1557G>T (p.Trp519Cys)
c.1395G>T (p.Trp465Cys)
n.2070G>T
c.1488G>T (p.Trp496Cys)
n.2023G>T
n.2045G>T
16g.50711973G>ACA395870750NOD2c.1981G>A (p.Gly661Ser)
c.2062G>A (p.Gly688Ser)
c.1558G>A (p.Gly520Ser)
c.1396G>A (p.Gly466Ser)
n.2071G>A
c.1489G>A (p.Gly497Ser)
n.2024G>A
n.2046G>A
 gnomAD v4
16g.50711973G>CCA395870752NOD2c.1981G>C (p.Gly661Arg)
c.2062G>C (p.Gly688Arg)
c.1558G>C (p.Gly520Arg)
c.1396G>C (p.Gly466Arg)
n.2071G>C
c.1489G>C (p.Gly497Arg)
n.2024G>C
n.2046G>C
 dbSNP gnomAD v2 gnomAD v4
16g.50711973G=CA2221862423NOD2c.1981G= (p.Gly661=)
c.2062G= (p.Gly688=)
c.1558G= (p.Gly520=)
c.1396G= (p.Gly466=)
n.2071G=
c.1489G= (p.Gly497=)
n.2024G=
n.2046G=
16g.50711973G>TCA395870754NOD2c.1981G>T (p.Gly661Cys)
c.2062G>T (p.Gly688Cys)
c.1558G>T (p.Gly520Cys)
c.1396G>T (p.Gly466Cys)
n.2071G>T
c.1489G>T (p.Gly497Cys)
n.2024G>T
n.2046G>T
 gnomAD v4
16g.50711974G>ACA395870756NOD2c.1982G>A (p.Gly661Asp)
c.2063G>A (p.Gly688Asp)
c.1559G>A (p.Gly520Asp)
c.1397G>A (p.Gly466Asp)
n.2072G>A
c.1490G>A (p.Gly497Asp)
n.2025G>A
n.2047G>A
 dbSNP
16g.50711974G>CCA395870758NOD2c.1982G>C (p.Gly661Ala)
c.2063G>C (p.Gly688Ala)
c.1559G>C (p.Gly520Ala)
c.1397G>C (p.Gly466Ala)
n.2072G>C
c.1490G>C (p.Gly497Ala)
n.2025G>C
n.2047G>C
16g.50711974G=CA2221862427NOD2c.1982G= (p.Gly661=)
c.2063G= (p.Gly688=)
c.1559G= (p.Gly520=)
c.1397G= (p.Gly466=)
n.2072G=
c.1490G= (p.Gly497=)
n.2025G=
n.2047G=
16g.50711974G>TCA395870759NOD2c.1982G>T (p.Gly661Val)
c.2063G>T (p.Gly688Val)
c.1559G>T (p.Gly520Val)
c.1397G>T (p.Gly466Val)
n.2072G>T
c.1490G>T (p.Gly497Val)
n.2025G>T
n.2047G>T
16g.50711977_50711991delCA2633164535NOD2c.1985_1999del (p.Leu662_Cys666del)
c.2066_2080del (p.Leu689_Cys693del)
c.1562_1576del (p.Leu521_Cys525del)
c.1400_1414del (p.Leu467_Cys471del)
n.2075_2089del
c.1493_1507del (p.Leu498_Cys502del)
n.2028_2042del
n.2050_2064del
 gnomAD v4
16g.50711975C>ACA495779302NOD2c.1983C>A (p.Gly661=)
c.2064C>A (p.Gly688=)
c.1560C>A (p.Gly520=)
c.1398C>A (p.Gly466=)
n.2073C>A
c.1491C>A (p.Gly497=)
n.2026C>A
n.2048C>A
16g.50711975C>GCA495779304NOD2c.1983C>G (p.Gly661=)
c.2064C>G (p.Gly688=)
c.1560C>G (p.Gly520=)
c.1398C>G (p.Gly466=)
n.2073C>G
c.1491C>G (p.Gly497=)
n.2026C>G
n.2048C>G
16g.50711975C>TCA495779306NOD2c.1983C>T (p.Gly661=)
c.2064C>T (p.Gly688=)
c.1560C>T (p.Gly520=)
c.1398C>T (p.Gly466=)
n.2073C>T
c.1491C>T (p.Gly497=)
n.2026C>T
n.2048C>T
16g.50711976C>ACA395870761NOD2c.1984C>A (p.Leu662Met)
c.2065C>A (p.Leu689Met)
c.1561C>A (p.Leu521Met)
c.1399C>A (p.Leu467Met)
n.2074C>A
c.1492C>A (p.Leu498Met)
n.2027C>A
n.2049C>A
16g.50711976C>GCA395870763NOD2c.1984C>G (p.Leu662Val)
c.2065C>G (p.Leu689Val)
c.1561C>G (p.Leu521Val)
c.1399C>G (p.Leu467Val)
n.2074C>G
c.1492C>G (p.Leu498Val)
n.2027C>G
n.2049C>G
 gnomAD v4
16g.50711976C>TCA495779307NOD2c.1984C>T (p.Leu662=)
c.2065C>T (p.Leu689=)
c.1561C>T (p.Leu521=)
c.1399C>T (p.Leu467=)
n.2074C>T
c.1492C>T (p.Leu498=)
n.2027C>T
n.2049C>T
16g.50711977T>ACA395870769NOD2c.1985T>A (p.Leu662Gln)
c.2066T>A (p.Leu689Gln)
c.1562T>A (p.Leu521Gln)
c.1400T>A (p.Leu467Gln)
n.2075T>A
c.1493T>A (p.Leu498Gln)
n.2028T>A
n.2050T>A
16g.50711977T>CCA395870767NOD2c.1985T>C (p.Leu662Pro)
c.2066T>C (p.Leu689Pro)
c.1562T>C (p.Leu521Pro)
c.1400T>C (p.Leu467Pro)
n.2075T>C
c.1493T>C (p.Leu498Pro)
n.2028T>C
n.2050T>C
16g.50711977T>GCA395870765NOD2c.1985T>G (p.Leu662Arg)
c.2066T>G (p.Leu689Arg)
c.1562T>G (p.Leu521Arg)
c.1400T>G (p.Leu467Arg)
n.2075T>G
c.1493T>G (p.Leu498Arg)
n.2028T>G
n.2050T>G
16g.50711978G>ACA495779308NOD2c.1986G>A (p.Leu662=)
c.2067G>A (p.Leu689=)
c.1563G>A (p.Leu521=)
c.1401G>A (p.Leu467=)
n.2076G>A
c.1494G>A (p.Leu498=)
n.2029G>A
n.2051G>A
16g.50711978G>CCA495779309NOD2c.1986G>C (p.Leu662=)
c.2067G>C (p.Leu689=)
c.1563G>C (p.Leu521=)
c.1401G>C (p.Leu467=)
n.2076G>C
c.1494G>C (p.Leu498=)
n.2029G>C
n.2051G>C
 dbSNP gnomAD v3 gnomAD v4
16g.50711978G=CA2221862430NOD2c.1986G= (p.Leu662=)
c.2067G= (p.Leu689=)
c.1563G= (p.Leu521=)
c.1401G= (p.Leu467=)
n.2076G=
c.1494G= (p.Leu498=)
n.2029G=
n.2051G=
16g.50711978G>TCA495779310NOD2c.1986G>T (p.Leu662=)
c.2067G>T (p.Leu689=)
c.1563G>T (p.Leu521=)
c.1401G>T (p.Leu467=)
n.2076G>T
c.1494G>T (p.Leu498=)
n.2029G>T
n.2051G>T
16g.50711979C>ACA395870771NOD2c.1987C>A (p.Leu663Met)
c.2068C>A (p.Leu690Met)
c.1564C>A (p.Leu522Met)
c.1402C>A (p.Leu468Met)
n.2077C>A
c.1495C>A (p.Leu499Met)
n.2030C>A
n.2052C>A
 gnomAD v4
16g.50711979C=CA2221862433NOD2c.1987C= (p.Leu663=)
c.2068C= (p.Leu690=)
c.1564C= (p.Leu522=)
c.1402C= (p.Leu468=)
n.2077C=
c.1495C= (p.Leu499=)
n.2030C=
n.2052C=
16g.50711979C>GCA395870773NOD2c.1987C>G (p.Leu663Val)
c.2068C>G (p.Leu690Val)
c.1564C>G (p.Leu522Val)
c.1402C>G (p.Leu468Val)
n.2077C>G
c.1495C>G (p.Leu499Val)
n.2030C>G
n.2052C>G
16g.50711979C>TCA495779311NOD2c.1987C>T (p.Leu663=)
c.2068C>T (p.Leu690=)
c.1564C>T (p.Leu522=)
c.1402C>T (p.Leu468=)
n.2077C>T
c.1495C>T (p.Leu499=)
n.2030C>T
n.2052C>T
 dbSNP
16g.50711980T>ACA395870775NOD2c.1988T>A (p.Leu663Gln)
c.2069T>A (p.Leu690Gln)
c.1565T>A (p.Leu522Gln)
c.1403T>A (p.Leu468Gln)
n.2078T>A
c.1496T>A (p.Leu499Gln)
n.2031T>A
n.2053T>A
16g.50711980T>CCA395870778NOD2c.1988T>C (p.Leu663Pro)
c.2069T>C (p.Leu690Pro)
c.1565T>C (p.Leu522Pro)
c.1403T>C (p.Leu468Pro)
n.2078T>C
c.1496T>C (p.Leu499Pro)
n.2031T>C
n.2053T>C
16g.50711980T>GCA395870780NOD2c.1988T>G (p.Leu663Arg)
c.2069T>G (p.Leu690Arg)
c.1565T>G (p.Leu522Arg)
c.1403T>G (p.Leu468Arg)
n.2078T>G
c.1496T>G (p.Leu499Arg)
n.2031T>G
n.2053T>G
16g.50711981G>ACA8051687NOD2c.1989G>A (p.Leu663=)
c.2070G>A (p.Leu690=)
c.1566G>A (p.Leu522=)
c.1404G>A (p.Leu468=)
n.2079G>A
c.1497G>A (p.Leu499=)
n.2032G>A
n.2054G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50711981G>CCA495779312NOD2c.1989G>C (p.Leu663=)
c.2070G>C (p.Leu690=)
c.1566G>C (p.Leu522=)
c.1404G>C (p.Leu468=)
n.2079G>C
c.1497G>C (p.Leu499=)
n.2032G>C
n.2054G>C
16g.50711981G=CA2221862436NOD2c.1989G= (p.Leu663=)
c.2070G= (p.Leu690=)
c.1566G= (p.Leu522=)
c.1404G= (p.Leu468=)
n.2079G=
c.1497G= (p.Leu499=)
n.2032G=
n.2054G=
16g.50711981G>TCA495779313NOD2c.1989G>T (p.Leu663=)
c.2070G>T (p.Leu690=)
c.1566G>T (p.Leu522=)
c.1404G>T (p.Leu468=)
n.2079G>T
c.1497G>T (p.Leu499=)
n.2032G>T
n.2054G>T
 dbSNP gnomAD v4
16g.50711982G>ACA395870783NOD2c.1990G>A (p.Ala664Thr)
c.2071G>A (p.Ala691Thr)
c.1567G>A (p.Ala523Thr)
c.1405G>A (p.Ala469Thr)
n.2080G>A
c.1498G>A (p.Ala500Thr)
n.2033G>A
n.2055G>A
16g.50711982G>CCA395870785NOD2c.1990G>C (p.Ala664Pro)
c.2071G>C (p.Ala691Pro)
c.1567G>C (p.Ala523Pro)
c.1405G>C (p.Ala469Pro)
n.2080G>C
c.1498G>C (p.Ala500Pro)
n.2033G>C
n.2055G>C
16g.50711982G>TCA395870787NOD2c.1990G>T (p.Ala664Ser)
c.2071G>T (p.Ala691Ser)
c.1567G>T (p.Ala523Ser)
c.1405G>T (p.Ala469Ser)
n.2080G>T
c.1498G>T (p.Ala500Ser)
n.2033G>T
n.2055G>T
16g.50711983C>ACA395870789NOD2c.1991C>A (p.Ala664Asp)
c.2072C>A (p.Ala691Asp)
c.1568C>A (p.Ala523Asp)
c.1406C>A (p.Ala469Asp)
n.2081C>A
c.1499C>A (p.Ala500Asp)
n.2034C>A
n.2056C>A
 dbSNP gnomAD v2
16g.50711983C=CA2221862438NOD2c.1991C= (p.Ala664=)
c.2072C= (p.Ala691=)
c.1568C= (p.Ala523=)
c.1406C= (p.Ala469=)
n.2081C=
c.1499C= (p.Ala500=)
n.2034C=
n.2056C=
16g.50711983C>GCA395870790NOD2c.1991C>G (p.Ala664Gly)
c.2072C>G (p.Ala691Gly)
c.1568C>G (p.Ala523Gly)
c.1406C>G (p.Ala469Gly)
n.2081C>G
c.1499C>G (p.Ala500Gly)
n.2034C>G
n.2056C>G
16g.50711983C>TCA395870792NOD2c.1991C>T (p.Ala664Val)
c.2072C>T (p.Ala691Val)
c.1568C>T (p.Ala523Val)
c.1406C>T (p.Ala469Val)
n.2081C>T
c.1499C>T (p.Ala500Val)
n.2034C>T
n.2056C>T
16g.50711984T>ACA495779317NOD2c.1992T>A (p.Ala664=)
c.2073T>A (p.Ala691=)
c.1569T>A (p.Ala523=)
c.1407T>A (p.Ala469=)
n.2082T>A
c.1500T>A (p.Ala500=)
n.2035T>A
n.2057T>A
16g.50711984T>CCA495779319NOD2c.1992T>C (p.Ala664=)
c.2073T>C (p.Ala691=)
c.1569T>C (p.Ala523=)
c.1407T>C (p.Ala469=)
n.2082T>C
c.1500T>C (p.Ala500=)
n.2035T>C
n.2057T>C
16g.50711984T>GCA495779318NOD2c.1992T>G (p.Ala664=)
c.2073T>G (p.Ala691=)
c.1569T>G (p.Ala523=)
c.1407T>G (p.Ala469=)
n.2082T>G
c.1500T>G (p.Ala500=)
n.2035T>G
n.2057T>G
16g.50711985G>ACA8051688NOD2c.1993G>A (p.Glu665Lys)
c.2074G>A (p.Glu692Lys)
c.1570G>A (p.Glu524Lys)
c.1408G>A (p.Glu470Lys)
n.2083G>A
c.1501G>A (p.Glu501Lys)
n.2036G>A
n.2058G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.50711985G>CCA395870795NOD2c.1993G>C (p.Glu665Gln)
c.2074G>C (p.Glu692Gln)
c.1570G>C (p.Glu524Gln)
c.1408G>C (p.Glu470Gln)
n.2083G>C
c.1501G>C (p.Glu501Gln)
n.2036G>C
n.2058G>C
16g.50711985G=CA2221862443NOD2c.1993G= (p.Glu665=)
c.2074G= (p.Glu692=)
c.1570G= (p.Glu524=)
c.1408G= (p.Glu470=)
n.2083G=
c.1501G= (p.Glu501=)
n.2036G=
n.2058G=
16g.50711985G>TCA395870797NOD2c.1993G>T (p.Glu665Ter)
c.2074G>T (p.Glu692Ter)
c.1570G>T (p.Glu524Ter)
c.1408G>T (p.Glu470Ter)
n.2083G>T
c.1501G>T (p.Glu501Ter)
n.2036G>T
n.2058G>T
16g.50711986A=CA2221862447NOD2c.1994A= (p.Glu665=)
c.2075A= (p.Glu692=)
c.1571A= (p.Glu524=)
c.1409A= (p.Glu470=)
n.2084A=
c.1502A= (p.Glu501=)
n.2037A=
n.2059A=
16g.50711986A>CCA395870800NOD2c.1994A>C (p.Glu665Ala)
c.2075A>C (p.Glu692Ala)
c.1571A>C (p.Glu524Ala)
c.1409A>C (p.Glu470Ala)
n.2084A>C
c.1502A>C (p.Glu501Ala)
n.2037A>C
n.2059A>C
16g.50711986A>GCA8051689NOD2c.1994A>G (p.Glu665Gly)
c.2075A>G (p.Glu692Gly)
c.1571A>G (p.Glu524Gly)
c.1409A>G (p.Glu470Gly)
n.2084A>G
c.1502A>G (p.Glu501Gly)
n.2037A>G
n.2059A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.50711986A>TCA395870799NOD2c.1994A>T (p.Glu665Val)
c.2075A>T (p.Glu692Val)
c.1571A>T (p.Glu524Val)
c.1409A>T (p.Glu470Val)
n.2084A>T
c.1502A>T (p.Glu501Val)
n.2037A>T
n.2059A>T
 gnomAD v4
16g.50711987G>ACA495779321NOD2c.1995G>A (p.Glu665=)
c.2076G>A (p.Glu692=)
c.1572G>A (p.Glu524=)
c.1410G>A (p.Glu470=)
n.2085G>A
c.1503G>A (p.Glu501=)
n.2038G>A
n.2060G>A
16g.50711987G>CCA395870803NOD2c.1995G>C (p.Glu665Asp)
c.2076G>C (p.Glu692Asp)
c.1572G>C (p.Glu524Asp)
c.1410G>C (p.Glu470Asp)
n.2085G>C
c.1503G>C (p.Glu501Asp)
n.2038G>C
n.2060G>C
16g.50711987G>TCA395870805NOD2c.1995G>T (p.Glu665Asp)
c.2076G>T (p.Glu692Asp)
c.1572G>T (p.Glu524Asp)
c.1410G>T (p.Glu470Asp)
n.2085G>T
c.1503G>T (p.Glu501Asp)
n.2038G>T
n.2060G>T
16g.50711988T>ACA395870807NOD2c.1996T>A (p.Cys666Ser)
c.2077T>A (p.Cys693Ser)
c.1573T>A (p.Cys525Ser)
c.1411T>A (p.Cys471Ser)
n.2086T>A
c.1504T>A (p.Cys502Ser)
n.2039T>A
n.2061T>A
16g.50711988T>CCA395870809NOD2c.1996T>C (p.Cys666Arg)
c.2077T>C (p.Cys693Arg)
c.1573T>C (p.Cys525Arg)
c.1411T>C (p.Cys471Arg)
n.2086T>C
c.1504T>C (p.Cys502Arg)
n.2039T>C
n.2061T>C
16g.50711988T>GCA395870811NOD2c.1996T>G (p.Cys666Gly)
c.2077T>G (p.Cys693Gly)
c.1573T>G (p.Cys525Gly)
c.1411T>G (p.Cys471Gly)
n.2086T>G
c.1504T>G (p.Cys502Gly)
n.2039T>G
n.2061T>G
16g.50711989G>ACA395870813NOD2c.1997G>A (p.Cys666Tyr)
c.2078G>A (p.Cys693Tyr)
c.1574G>A (p.Cys525Tyr)
c.1412G>A (p.Cys471Tyr)
n.2087G>A
c.1505G>A (p.Cys502Tyr)
n.2040G>A
n.2062G>A
 dbSNP COSMIC
16g.50711989G>CCA395870814NOD2c.1997G>C (p.Cys666Ser)
c.2078G>C (p.Cys693Ser)
c.1574G>C (p.Cys525Ser)
c.1412G>C (p.Cys471Ser)
n.2087G>C
c.1505G>C (p.Cys502Ser)
n.2040G>C
n.2062G>C
16g.50711989G=CA2221862452NOD2c.1997G= (p.Cys666=)
c.2078G= (p.Cys693=)
c.1574G= (p.Cys525=)
c.1412G= (p.Cys471=)
n.2087G=
c.1505G= (p.Cys502=)
n.2040G=
n.2062G=
16g.50711989G>TCA395870816NOD2c.1997G>T (p.Cys666Phe)
c.2078G>T (p.Cys693Phe)
c.1574G>T (p.Cys525Phe)
c.1412G>T (p.Cys471Phe)
n.2087G>T
c.1505G>T (p.Cys502Phe)
n.2040G>T
n.2062G>T
 COSMIC
16g.50711990C>ACA395870818NOD2c.1998C>A (p.Cys666Ter)
c.2079C>A (p.Cys693Ter)
c.1575C>A (p.Cys525Ter)
c.1413C>A (p.Cys471Ter)
n.2088C>A
c.1506C>A (p.Cys502Ter)
n.2041C>A
n.2063C>A
 gnomAD v4
16g.50711990C=CA2221862455NOD2c.1998C= (p.Cys666=)
c.2079C= (p.Cys693=)
c.1575C= (p.Cys525=)
c.1413C= (p.Cys471=)
n.2088C=
c.1506C= (p.Cys502=)
n.2041C=
n.2063C=
16g.50711990C>GCA395870820NOD2c.1998C>G (p.Cys666Trp)
c.2079C>G (p.Cys693Trp)
c.1575C>G (p.Cys525Trp)
c.1413C>G (p.Cys471Trp)
n.2088C>G
c.1506C>G (p.Cys502Trp)
n.2041C>G
n.2063C>G
16g.50711990C>TCA495779327NOD2c.1998C>T (p.Cys666=)
c.2079C>T (p.Cys693=)
c.1575C>T (p.Cys525=)
c.1413C>T (p.Cys471=)
n.2088C>T
c.1506C>T (p.Cys502=)
n.2041C>T
n.2063C>T
 dbSNP gnomAD v4
16g.50711991C>ACA395870822NOD2c.1999C>A (p.Gln667Lys)
c.2080C>A (p.Gln694Lys)
c.1576C>A (p.Gln526Lys)
c.1414C>A (p.Gln472Lys)
n.2089C>A
c.1507C>A (p.Gln503Lys)
n.2042C>A
n.2064C>A
16g.50711991C>GCA395870824NOD2c.1999C>G (p.Gln667Glu)
c.2080C>G (p.Gln694Glu)
c.1576C>G (p.Gln526Glu)
c.1414C>G (p.Gln472Glu)
n.2089C>G
c.1507C>G (p.Gln503Glu)
n.2042C>G
n.2064C>G
 gnomAD v4
16g.50711991C>TCA395870826NOD2c.1999C>T (p.Gln667Ter)
c.2080C>T (p.Gln694Ter)
c.1576C>T (p.Gln526Ter)
c.1414C>T (p.Gln472Ter)
n.2089C>T
c.1507C>T (p.Gln503Ter)
n.2042C>T
n.2064C>T
16g.50711992A>CCA395870830NOD2c.2000A>C (p.Gln667Pro)
c.2081A>C (p.Gln694Pro)
c.1577A>C (p.Gln526Pro)
c.1415A>C (p.Gln472Pro)
n.2090A>C
c.1508A>C (p.Gln503Pro)
n.2043A>C
n.2065A>C
16g.50711992A>GCA395870832NOD2c.2000A>G (p.Gln667Arg)
c.2081A>G (p.Gln694Arg)
c.1577A>G (p.Gln526Arg)
c.1415A>G (p.Gln472Arg)
n.2090A>G
c.1508A>G (p.Gln503Arg)
n.2043A>G
n.2065A>G
16g.50711992A>TCA395870829NOD2c.2000A>T (p.Gln667Leu)
c.2081A>T (p.Gln694Leu)
c.1577A>T (p.Gln526Leu)
c.1415A>T (p.Gln472Leu)
n.2090A>T
c.1508A>T (p.Gln503Leu)
n.2043A>T
n.2065A>T
16g.50711993G>ACA495779329NOD2c.2001G>A (p.Gln667=)
c.2082G>A (p.Gln694=)
c.1578G>A (p.Gln526=)
c.1416G>A (p.Gln472=)
n.2091G>A
c.1509G>A (p.Gln503=)
n.2044G>A
n.2066G>A
16g.50711993G>CCA395870834NOD2c.2001G>C (p.Gln667His)
c.2082G>C (p.Gln694His)
c.1578G>C (p.Gln526His)
c.1416G>C (p.Gln472His)
n.2091G>C
c.1509G>C (p.Gln503His)
n.2044G>C
n.2066G>C
16g.50711993G>TCA395870836NOD2c.2001G>T (p.Gln667His)
c.2082G>T (p.Gln694His)
c.1578G>T (p.Gln526His)
c.1416G>T (p.Gln472His)
n.2091G>T
c.1509G>T (p.Gln503His)
n.2044G>T
n.2066G>T
16g.50711994A>CCA395870837NOD2c.2002A>C (p.Thr668Pro)
c.2083A>C (p.Thr695Pro)
c.1579A>C (p.Thr527Pro)
c.1417A>C (p.Thr473Pro)
n.2092A>C
c.1510A>C (p.Thr504Pro)
n.2045A>C
n.2067A>C
16g.50711994A>GCA395870839NOD2c.2002A>G (p.Thr668Ala)
c.2083A>G (p.Thr695Ala)
c.1579A>G (p.Thr527Ala)
c.1417A>G (p.Thr473Ala)
n.2092A>G
c.1510A>G (p.Thr504Ala)
n.2045A>G
n.2067A>G
16g.50711994A>TCA395870841NOD2c.2002A>T (p.Thr668Ser)
c.2083A>T (p.Thr695Ser)
c.1579A>T (p.Thr527Ser)
c.1417A>T (p.Thr473Ser)
n.2092A>T
c.1510A>T (p.Thr504Ser)
n.2045A>T
n.2067A>T
16g.50711995C>ACA395870843NOD2c.2003C>A (p.Thr668Lys)
c.2084C>A (p.Thr695Lys)
c.1580C>A (p.Thr527Lys)
c.1418C>A (p.Thr473Lys)
n.2093C>A
c.1511C>A (p.Thr504Lys)
n.2046C>A
n.2068C>A
16g.50711995C>GCA395870844NOD2c.2003C>G (p.Thr668Arg)
c.2084C>G (p.Thr695Arg)
c.1580C>G (p.Thr527Arg)
c.1418C>G (p.Thr473Arg)
n.2093C>G
c.1511C>G (p.Thr504Arg)
n.2046C>G
n.2068C>G
16g.50711995C>TCA395870846NOD2c.2003C>T (p.Thr668Ile)
c.2084C>T (p.Thr695Ile)
c.1580C>T (p.Thr527Ile)
c.1418C>T (p.Thr473Ile)
n.2093C>T
c.1511C>T (p.Thr504Ile)
n.2046C>T
n.2068C>T
16g.50711996A=CA2221862460NOD2c.2004A= (p.Thr668=)
c.2085A= (p.Thr695=)
c.1581A= (p.Thr527=)
c.1419A= (p.Thr473=)
n.2094A=
c.1512A= (p.Thr504=)
n.2047A=
n.2069A=
16g.50711996A>CCA8051690NOD2c.2004A>C (p.Thr668=)
c.2085A>C (p.Thr695=)
c.1581A>C (p.Thr527=)
c.1419A>C (p.Thr473=)
n.2094A>C
c.1512A>C (p.Thr504=)
n.2047A>C
n.2069A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50711996A>GCA495779331NOD2c.2004A>G (p.Thr668=)
c.2085A>G (p.Thr695=)
c.1581A>G (p.Thr527=)
c.1419A>G (p.Thr473=)
n.2094A>G
c.1512A>G (p.Thr504=)
n.2047A>G
n.2069A>G
16g.50711996A>TCA495779333NOD2c.2004A>T (p.Thr668=)
c.2085A>T (p.Thr695=)
c.1581A>T (p.Thr527=)
c.1419A>T (p.Thr473=)
n.2094A>T
c.1512A>T (p.Thr504=)
n.2047A>T
n.2069A>T
16g.50711997T>ACA395870849NOD2c.2005T>A (p.Ser669Thr)
c.2086T>A (p.Ser696Thr)
c.1582T>A (p.Ser528Thr)
c.1420T>A (p.Ser474Thr)
n.2095T>A
c.1513T>A (p.Ser505Thr)
n.2048T>A
n.2070T>A
 gnomAD v4
16g.50711997T>CCA395870851NOD2c.2005T>C (p.Ser669Pro)
c.2086T>C (p.Ser696Pro)
c.1582T>C (p.Ser528Pro)
c.1420T>C (p.Ser474Pro)
n.2095T>C
c.1513T>C (p.Ser505Pro)
n.2048T>C
n.2070T>C
16g.50711997T>GCA395870852NOD2c.2005T>G (p.Ser669Ala)
c.2086T>G (p.Ser696Ala)
c.1582T>G (p.Ser528Ala)
c.1420T>G (p.Ser474Ala)
n.2095T>G
c.1513T>G (p.Ser505Ala)
n.2048T>G
n.2070T>G
16g.50711998C>ACA395870858NOD2c.2006C>A (p.Ser669Tyr)
c.2087C>A (p.Ser696Tyr)
c.1583C>A (p.Ser528Tyr)
c.1421C>A (p.Ser474Tyr)
n.2096C>A
c.1514C>A (p.Ser505Tyr)
n.2049C>A
n.2071C>A
16g.50711998C>GCA395870855NOD2c.2006C>G (p.Ser669Cys)
c.2087C>G (p.Ser696Cys)
c.1583C>G (p.Ser528Cys)
c.1421C>G (p.Ser474Cys)
n.2096C>G
c.1514C>G (p.Ser505Cys)
n.2049C>G
n.2071C>G
16g.50711998C>TCA395870857NOD2c.2006C>T (p.Ser669Phe)
c.2087C>T (p.Ser696Phe)
c.1583C>T (p.Ser528Phe)
c.1421C>T (p.Ser474Phe)
n.2096C>T
c.1514C>T (p.Ser505Phe)
n.2049C>T
n.2071C>T
 COSMIC
16g.50711999T>ACA495779337NOD2c.2007T>A (p.Ser669=)
c.2088T>A (p.Ser696=)
c.1584T>A (p.Ser528=)
c.1422T>A (p.Ser474=)
n.2097T>A
c.1515T>A (p.Ser505=)
n.2050T>A
n.2072T>A
16g.50711999T>CCA495779339NOD2c.2007T>C (p.Ser669=)
c.2088T>C (p.Ser696=)
c.1584T>C (p.Ser528=)
c.1422T>C (p.Ser474=)
n.2097T>C
c.1515T>C (p.Ser505=)
n.2050T>C
n.2072T>C
16g.50711999T>GCA495779340NOD2c.2007T>G (p.Ser669=)
c.2088T>G (p.Ser696=)
c.1584T>G (p.Ser528=)
c.1422T>G (p.Ser474=)
n.2097T>G
c.1515T>G (p.Ser505=)
n.2050T>G
n.2072T>G
16g.50712000G>ACA395870860NOD2c.2008G>A (p.Glu670Lys)
c.2089G>A (p.Glu697Lys)
c.1585G>A (p.Glu529Lys)
c.1423G>A (p.Glu475Lys)
n.2098G>A
c.1516G>A (p.Glu506Lys)
n.2051G>A
n.2073G>A
16g.50712000G>CCA395870862NOD2c.2008G>C (p.Glu670Gln)
c.2089G>C (p.Glu697Gln)
c.1585G>C (p.Glu529Gln)
c.1423G>C (p.Glu475Gln)
n.2098G>C
c.1516G>C (p.Glu506Gln)
n.2051G>C
n.2073G>C
16g.50712000G>TCA395870864NOD2c.2008G>T (p.Glu670Ter)
c.2089G>T (p.Glu697Ter)
c.1585G>T (p.Glu529Ter)
c.1423G>T (p.Glu475Ter)
n.2098G>T
c.1516G>T (p.Glu506Ter)
n.2051G>T
n.2073G>T
16g.50712001A>CCA395870866NOD2c.2009A>C (p.Glu670Ala)
c.2090A>C (p.Glu697Ala)
c.1586A>C (p.Glu529Ala)
c.1424A>C (p.Glu475Ala)
n.2099A>C
c.1517A>C (p.Glu506Ala)
n.2052A>C
n.2074A>C
16g.50712001A>GCA395870868NOD2c.2009A>G (p.Glu670Gly)
c.2090A>G (p.Glu697Gly)
c.1586A>G (p.Glu529Gly)
c.1424A>G (p.Glu475Gly)
n.2099A>G
c.1517A>G (p.Glu506Gly)
n.2052A>G
n.2074A>G
16g.50712001A>TCA395870870NOD2c.2009A>T (p.Glu670Val)
c.2090A>T (p.Glu697Val)
c.1586A>T (p.Glu529Val)
c.1424A>T (p.Glu475Val)
n.2099A>T
c.1517A>T (p.Glu506Val)
n.2052A>T
n.2074A>T
 COSMIC
16g.50712002G>ACA495779344NOD2c.2010G>A (p.Glu670=)
c.2091G>A (p.Glu697=)
c.1587G>A (p.Glu529=)
c.1425G>A (p.Glu475=)
n.2100G>A
c.1518G>A (p.Glu506=)
n.2053G>A
n.2075G>A
16g.50712002G>CCA395870872NOD2c.2010G>C (p.Glu670Asp)
c.2091G>C (p.Glu697Asp)
c.1587G>C (p.Glu529Asp)
c.1425G>C (p.Glu475Asp)
n.2100G>C
c.1518G>C (p.Glu506Asp)
n.2053G>C
n.2075G>C
16g.50712002G>TCA395870873NOD2c.2010G>T (p.Glu670Asp)
c.2091G>T (p.Glu697Asp)
c.1587G>T (p.Glu529Asp)
c.1425G>T (p.Glu475Asp)
n.2100G>T
c.1518G>T (p.Glu506Asp)
n.2053G>T
n.2075G>T
16g.50712003A>CCA395870875NOD2c.2011A>C (p.Lys671Gln)
c.2092A>C (p.Lys698Gln)
c.1588A>C (p.Lys530Gln)
c.1426A>C (p.Lys476Gln)
n.2101A>C
c.1519A>C (p.Lys507Gln)
n.2054A>C
n.2076A>C
16g.50712003A>GCA395870877NOD2c.2011A>G (p.Lys671Glu)
c.2092A>G (p.Lys698Glu)
c.1588A>G (p.Lys530Glu)
c.1426A>G (p.Lys476Glu)
n.2101A>G
c.1519A>G (p.Lys507Glu)
n.2054A>G
n.2076A>G
16g.50712003A>TCA395870879NOD2c.2011A>T (p.Lys671Ter)
c.2092A>T (p.Lys698Ter)
c.1588A>T (p.Lys530Ter)
c.1426A>T (p.Lys476Ter)
n.2101A>T
c.1519A>T (p.Lys507Ter)
n.2054A>T
n.2076A>T
16g.50712004A>CCA395870885NOD2c.2012A>C (p.Lys671Thr)
c.2093A>C (p.Lys698Thr)
c.1589A>C (p.Lys530Thr)
c.1427A>C (p.Lys476Thr)
n.2102A>C
c.1520A>C (p.Lys507Thr)
n.2055A>C
n.2077A>C
16g.50712004A>GCA395870883NOD2c.2012A>G (p.Lys671Arg)
c.2093A>G (p.Lys698Arg)
c.1589A>G (p.Lys530Arg)
c.1427A>G (p.Lys476Arg)
n.2102A>G
c.1520A>G (p.Lys507Arg)
n.2055A>G
n.2077A>G
16g.50712004A>TCA395870881NOD2c.2012A>T (p.Lys671Met)
c.2093A>T (p.Lys698Met)
c.1589A>T (p.Lys530Met)
c.1427A>T (p.Lys476Met)
n.2102A>T
c.1520A>T (p.Lys507Met)
n.2055A>T
n.2077A>T
16g.50712005G>ACA495779349NOD2c.2013G>A (p.Lys671=)
c.2094G>A (p.Lys698=)
c.1590G>A (p.Lys530=)
c.1428G>A (p.Lys476=)
n.2103G>A
c.1521G>A (p.Lys507=)
n.2056G>A
n.2078G>A
16g.50712005G>CCA395870887NOD2c.2013G>C (p.Lys671Asn)
c.2094G>C (p.Lys698Asn)
c.1590G>C (p.Lys530Asn)
c.1428G>C (p.Lys476Asn)
n.2103G>C
c.1521G>C (p.Lys507Asn)
n.2056G>C
n.2078G>C
16g.50712005G>TCA395870889NOD2c.2013G>T (p.Lys671Asn)
c.2094G>T (p.Lys698Asn)
c.1590G>T (p.Lys530Asn)
c.1428G>T (p.Lys476Asn)
n.2103G>T
c.1521G>T (p.Lys507Asn)
n.2056G>T
n.2078G>T
16g.50712006G>ACA395870891NOD2c.2014G>A (p.Ala672Thr)
c.2095G>A (p.Ala699Thr)
c.1591G>A (p.Ala531Thr)
c.1429G>A (p.Ala477Thr)
n.2104G>A
c.1522G>A (p.Ala508Thr)
n.2057G>A
n.2079G>A
 gnomAD v4
16g.50712006G>CCA281263822NOD2c.2014G>C (p.Ala672Pro)
c.2095G>C (p.Ala699Pro)
c.1591G>C (p.Ala531Pro)
c.1429G>C (p.Ala477Pro)
n.2104G>C
c.1522G>C (p.Ala508Pro)
n.2057G>C
n.2079G>C
 dbSNP gnomAD v2 gnomAD v4
16g.50712006G=CA2221862464NOD2c.2014G= (p.Ala672=)
c.2095G= (p.Ala699=)
c.1591G= (p.Ala531=)
c.1429G= (p.Ala477=)
n.2104G=
c.1522G= (p.Ala508=)
n.2057G=
n.2079G=
16g.50712006G>TCA395870894NOD2c.2014G>T (p.Ala672Ser)
c.2095G>T (p.Ala699Ser)
c.1591G>T (p.Ala531Ser)
c.1429G>T (p.Ala477Ser)
n.2104G>T
c.1522G>T (p.Ala508Ser)
n.2057G>T
n.2079G>T
 gnomAD v4
16g.50712007C>ACA395870896NOD2c.2015C>A (p.Ala672Asp)
c.2096C>A (p.Ala699Asp)
c.1592C>A (p.Ala531Asp)
c.1430C>A (p.Ala477Asp)
n.2105C>A
c.1523C>A (p.Ala508Asp)
n.2058C>A
n.2080C>A
16g.50712007C>GCA395870897NOD2c.2015C>G (p.Ala672Gly)
c.2096C>G (p.Ala699Gly)
c.1592C>G (p.Ala531Gly)
c.1430C>G (p.Ala477Gly)
n.2105C>G
c.1523C>G (p.Ala508Gly)
n.2058C>G
n.2080C>G
16g.50712007C>TCA395870900NOD2c.2015C>T (p.Ala672Val)
c.2096C>T (p.Ala699Val)
c.1592C>T (p.Ala531Val)
c.1430C>T (p.Ala477Val)
n.2105C>T
c.1523C>T (p.Ala508Val)
n.2058C>T
n.2080C>T
 COSMIC
16g.50712008C>ACA495779359NOD2c.2016C>A (p.Ala672=)
c.2097C>A (p.Ala699=)
c.1593C>A (p.Ala531=)
c.1431C>A (p.Ala477=)
n.2106C>A
c.1524C>A (p.Ala508=)
n.2059C>A
n.2081C>A
16g.50712008C=CA2221862466NOD2c.2016C= (p.Ala672=)
c.2097C= (p.Ala699=)
c.1593C= (p.Ala531=)
c.1431C= (p.Ala477=)
n.2106C=
c.1524C= (p.Ala508=)
n.2059C=
n.2081C=
16g.50712008C>GCA495779358NOD2c.2016C>G (p.Ala672=)
c.2097C>G (p.Ala699=)
c.1593C>G (p.Ala531=)
c.1431C>G (p.Ala477=)
n.2106C>G
c.1524C>G (p.Ala508=)
n.2059C>G
n.2081C>G
16g.50712008C>TCA495779356NOD2c.2016C>T (p.Ala672=)
c.2097C>T (p.Ala699=)
c.1593C>T (p.Ala531=)
c.1431C>T (p.Ala477=)
n.2106C>T
c.1524C>T (p.Ala508=)
n.2059C>T
n.2081C>T
 dbSNP
16g.50712009C>ACA395870902NOD2c.2017C>A (p.Leu673Met)
c.2098C>A (p.Leu700Met)
c.1594C>A (p.Leu532Met)
c.1432C>A (p.Leu478Met)
n.2107C>A
c.1525C>A (p.Leu509Met)
n.2060C>A
n.2082C>A
16g.50712009C>GCA395870904NOD2c.2017C>G (p.Leu673Val)
c.2098C>G (p.Leu700Val)
c.1594C>G (p.Leu532Val)
c.1432C>G (p.Leu478Val)
n.2107C>G
c.1525C>G (p.Leu509Val)
n.2060C>G
n.2082C>G
16g.50712009C>TCA495779361NOD2c.2017C>T (p.Leu673=)
c.2098C>T (p.Leu700=)
c.1594C>T (p.Leu532=)
c.1432C>T (p.Leu478=)
n.2107C>T
c.1525C>T (p.Leu509=)
n.2060C>T
n.2082C>T
16g.50712010T>ACA395870906NOD2c.2018T>A (p.Leu673Gln)
c.2099T>A (p.Leu700Gln)
c.1595T>A (p.Leu532Gln)
c.1433T>A (p.Leu478Gln)
n.2108T>A
c.1526T>A (p.Leu509Gln)
n.2061T>A
n.2083T>A
16g.50712010T>CCA395870908NOD2c.2018T>C (p.Leu673Pro)
c.2099T>C (p.Leu700Pro)
c.1595T>C (p.Leu532Pro)
c.1433T>C (p.Leu478Pro)
n.2108T>C
c.1526T>C (p.Leu509Pro)
n.2061T>C
n.2083T>C
16g.50712010T>GCA395870910NOD2c.2018T>G (p.Leu673Arg)
c.2099T>G (p.Leu700Arg)
c.1595T>G (p.Leu532Arg)
c.1433T>G (p.Leu478Arg)
n.2108T>G
c.1526T>G (p.Leu509Arg)
n.2061T>G
n.2083T>G
 gnomAD v4
16g.50712011G>ACA495779365NOD2c.2019G>A (p.Leu673=)
c.2100G>A (p.Leu700=)
c.1596G>A (p.Leu532=)
c.1434G>A (p.Leu478=)
n.2109G>A
c.1527G>A (p.Leu509=)
n.2062G>A
n.2084G>A
16g.50712011G>CCA495779366NOD2c.2019G>C (p.Leu673=)
c.2100G>C (p.Leu700=)
c.1596G>C (p.Leu532=)
c.1434G>C (p.Leu478=)
n.2109G>C
c.1527G>C (p.Leu509=)
n.2062G>C
n.2084G>C
16g.50712011G>TCA495779367NOD2c.2019G>T (p.Leu673=)
c.2100G>T (p.Leu700=)
c.1596G>T (p.Leu532=)
c.1434G>T (p.Leu478=)
n.2109G>T
c.1527G>T (p.Leu509=)
n.2062G>T
n.2084G>T
 ClinVar
16g.50712012C>ACA395870915NOD2c.2020C>A (p.Leu674Ile)
c.2101C>A (p.Leu701Ile)
c.1597C>A (p.Leu533Ile)
c.1435C>A (p.Leu479Ile)
n.2110C>A
c.1528C>A (p.Leu510Ile)
n.2063C>A
n.2085C>A
16g.50712012C=CA2221862468NOD2c.2020C= (p.Leu674=)
c.2101C= (p.Leu701=)
c.1597C= (p.Leu533=)
c.1435C= (p.Leu479=)
n.2110C=
c.1528C= (p.Leu510=)
n.2063C=
n.2085C=
16g.50712012C>GCA395870913NOD2c.2020C>G (p.Leu674Val)
c.2101C>G (p.Leu701Val)
c.1597C>G (p.Leu533Val)
c.1435C>G (p.Leu479Val)
n.2110C>G
c.1528C>G (p.Leu510Val)
n.2063C>G
n.2085C>G
16g.50712012C>TCA8051691NOD2c.2020C>T (p.Leu674Phe)
c.2101C>T (p.Leu701Phe)
c.1597C>T (p.Leu533Phe)
c.1435C>T (p.Leu479Phe)
n.2110C>T
c.1528C>T (p.Leu510Phe)
n.2063C>T
n.2085C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712013T>ACA395870917NOD2c.2021T>A (p.Leu674His)
c.2102T>A (p.Leu701His)
c.1598T>A (p.Leu533His)
c.1436T>A (p.Leu479His)
n.2111T>A
c.1529T>A (p.Leu510His)
n.2064T>A
n.2086T>A
16g.50712013T>CCA395870919NOD2c.2021T>C (p.Leu674Pro)
c.2102T>C (p.Leu701Pro)
c.1598T>C (p.Leu533Pro)
c.1436T>C (p.Leu479Pro)
n.2111T>C
c.1529T>C (p.Leu510Pro)
n.2064T>C
n.2086T>C
16g.50712013T>GCA395870921NOD2c.2021T>G (p.Leu674Arg)
c.2102T>G (p.Leu701Arg)
c.1598T>G (p.Leu533Arg)
c.1436T>G (p.Leu479Arg)
n.2111T>G
c.1529T>G (p.Leu510Arg)
n.2064T>G
n.2086T>G
16g.50712014C>ACA495779373NOD2c.2022C>A (p.Leu674=)
c.2103C>A (p.Leu701=)
c.1599C>A (p.Leu533=)
c.1437C>A (p.Leu479=)
n.2112C>A
c.1530C>A (p.Leu510=)
n.2065C>A
n.2087C>A
16g.50712014C=CA2221862471NOD2c.2022C= (p.Leu674=)
c.2103C= (p.Leu701=)
c.1599C= (p.Leu533=)
c.1437C= (p.Leu479=)
n.2112C=
c.1530C= (p.Leu510=)
n.2065C=
n.2087C=
16g.50712014C>GCA495779374NOD2c.2022C>G (p.Leu674=)
c.2103C>G (p.Leu701=)
c.1599C>G (p.Leu533=)
c.1437C>G (p.Leu479=)
n.2112C>G
c.1530C>G (p.Leu510=)
n.2065C>G
n.2087C>G
 dbSNP
16g.50712014C>TCA495779375NOD2c.2022C>T (p.Leu674=)
c.2103C>T (p.Leu701=)
c.1599C>T (p.Leu533=)
c.1437C>T (p.Leu479=)
n.2112C>T
c.1530C>T (p.Leu510=)
n.2065C>T
n.2087C>T
 ClinVar dbSNP COSMIC
16g.50712015C>ACA495779376NOD2c.2023C>A (p.Arg675=)
c.2104C>A (p.Arg702=)
c.1600C>A (p.Arg534=)
c.1438C>A (p.Arg480=)
n.2113C>A
c.1531C>A (p.Arg511=)
n.2066C>A
n.2088C>A
16g.50712015C=CA2221862477NOD2c.2023C= (p.Arg675=)
c.2104C= (p.Arg702=)
c.1600C= (p.Arg534=)
c.1438C= (p.Arg480=)
n.2113C=
c.1531C= (p.Arg511=)
n.2066C=
n.2088C=
16g.50712015C>GCA395870923NOD2c.2023C>G (p.Arg675Gly)
c.2104C>G (p.Arg702Gly)
c.1600C>G (p.Arg534Gly)
c.1438C>G (p.Arg480Gly)
n.2113C>G
c.1531C>G (p.Arg511Gly)
n.2066C>G
n.2088C>G
16g.50712015C>TCA213414NOD2c.2023C>T (p.Arg675Trp)
c.2104C>T (p.Arg702Trp)
c.1600C>T (p.Arg534Trp)
c.1438C>T (p.Arg480Trp)
n.2113C>T
c.1531C>T (p.Arg511Trp)
n.2066C>T
n.2088C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712016G>ACA8051692NOD2c.2024G>A (p.Arg675Gln)
c.2105G>A (p.Arg702Gln)
c.1601G>A (p.Arg534Gln)
c.1439G>A (p.Arg480Gln)
n.2114G>A
c.1532G>A (p.Arg511Gln)
n.2067G>A
n.2089G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712016G>CCA395870927NOD2c.2024G>C (p.Arg675Pro)
c.2105G>C (p.Arg702Pro)
c.1601G>C (p.Arg534Pro)
c.1439G>C (p.Arg480Pro)
n.2114G>C
c.1532G>C (p.Arg511Pro)
n.2067G>C
n.2089G>C
 dbSNP gnomAD v3 gnomAD v4
16g.50712016G=CA2221862482NOD2c.2024G= (p.Arg675=)
c.2105G= (p.Arg702=)
c.1601G= (p.Arg534=)
c.1439G= (p.Arg480=)
n.2114G=
c.1532G= (p.Arg511=)
n.2067G=
n.2089G=
16g.50712016G>TCA395870929NOD2c.2024G>T (p.Arg675Leu)
c.2105G>T (p.Arg702Leu)
c.1601G>T (p.Arg534Leu)
c.1439G>T (p.Arg480Leu)
n.2114G>T
c.1532G>T (p.Arg511Leu)
n.2067G>T
n.2089G>T
16g.50712017G>ACA495779380NOD2c.2025G>A (p.Arg675=)
c.2106G>A (p.Arg702=)
c.1602G>A (p.Arg534=)
c.1440G>A (p.Arg480=)
n.2115G>A
c.1533G>A (p.Arg511=)
n.2068G>A
n.2090G>A
16g.50712017G>CCA495779381NOD2c.2025G>C (p.Arg675=)
c.2106G>C (p.Arg702=)
c.1602G>C (p.Arg534=)
c.1440G>C (p.Arg480=)
n.2115G>C
c.1533G>C (p.Arg511=)
n.2068G>C
n.2090G>C
16g.50712017G>TCA495779382NOD2c.2025G>T (p.Arg675=)
c.2106G>T (p.Arg702=)
c.1602G>T (p.Arg534=)
c.1440G>T (p.Arg480=)
n.2115G>T
c.1533G>T (p.Arg511=)
n.2068G>T
n.2090G>T
 gnomAD v4
16g.50712018C>ACA395870932NOD2c.2026C>A (p.Arg676Ser)
c.2107C>A (p.Arg703Ser)
c.1603C>A (p.Arg535Ser)
c.1441C>A (p.Arg481Ser)
n.2116C>A
c.1534C>A (p.Arg512Ser)
n.2069C>A
n.2091C>A
16g.50712018C=CA2221862490NOD2c.2026C= (p.Arg676=)
c.2107C= (p.Arg703=)
c.1603C= (p.Arg535=)
c.1441C= (p.Arg481=)
n.2116C=
c.1534C= (p.Arg512=)
n.2069C=
n.2091C=
16g.50712018C>GCA8051693NOD2c.2026C>G (p.Arg676Gly)
c.2107C>G (p.Arg703Gly)
c.1603C>G (p.Arg535Gly)
c.1441C>G (p.Arg481Gly)
n.2116C>G
c.1534C>G (p.Arg512Gly)
n.2069C>G
n.2091C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712018C>TCA202825NOD2c.2026C>T (p.Arg676Cys)
c.2107C>T (p.Arg703Cys)
c.1603C>T (p.Arg535Cys)
c.1441C>T (p.Arg481Cys)
n.2116C>T
c.1534C>T (p.Arg512Cys)
n.2069C>T
n.2091C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712019G>ACA8051694NOD2c.2027G>A (p.Arg676His)
c.2108G>A (p.Arg703His)
c.1604G>A (p.Arg535His)
c.1442G>A (p.Arg481His)
n.2117G>A
c.1535G>A (p.Arg512His)
n.2070G>A
n.2092G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712019G>CCA395870938NOD2c.2027G>C (p.Arg676Pro)
c.2108G>C (p.Arg703Pro)
c.1604G>C (p.Arg535Pro)
c.1442G>C (p.Arg481Pro)
n.2117G>C
c.1535G>C (p.Arg512Pro)
n.2070G>C
n.2092G>C
16g.50712019G=CA2221862495NOD2c.2027G= (p.Arg676=)
c.2108G= (p.Arg703=)
c.1604G= (p.Arg535=)
c.1442G= (p.Arg481=)
n.2117G=
c.1535G= (p.Arg512=)
n.2070G=
n.2092G=
16g.50712019G>TCA395870935NOD2c.2027G>T (p.Arg676Leu)
c.2108G>T (p.Arg703Leu)
c.1604G>T (p.Arg535Leu)
c.1442G>T (p.Arg481Leu)
n.2117G>T
c.1535G>T (p.Arg512Leu)
n.2070G>T
n.2092G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.50712020C>ACA495779391NOD2c.2028C>A (p.Arg676=)
c.2109C>A (p.Arg703=)
c.1605C>A (p.Arg535=)
c.1443C>A (p.Arg481=)
n.2118C>A
c.1536C>A (p.Arg512=)
n.2071C>A
n.2093C>A
16g.50712020C>GCA495779392NOD2c.2028C>G (p.Arg676=)
c.2109C>G (p.Arg703=)
c.1605C>G (p.Arg535=)
c.1443C>G (p.Arg481=)
n.2118C>G
c.1536C>G (p.Arg512=)
n.2071C>G
n.2093C>G
16g.50712020C>TCA495779393NOD2c.2028C>T (p.Arg676=)
c.2109C>T (p.Arg703=)
c.1605C>T (p.Arg535=)
c.1443C>T (p.Arg481=)
n.2118C>T
c.1536C>T (p.Arg512=)
n.2071C>T
n.2093C>T
16g.50712021C>ACA395870940NOD2c.2029C>A (p.Gln677Lys)
c.2110C>A (p.Gln704Lys)
c.1606C>A (p.Gln536Lys)
c.1444C>A (p.Gln482Lys)
n.2119C>A
c.1537C>A (p.Gln513Lys)
n.2072C>A
n.2094C>A
16g.50712021C=CA2221862499NOD2c.2029C= (p.Gln677=)
c.2110C= (p.Gln704=)
c.1606C= (p.Gln536=)
c.1444C= (p.Gln482=)
n.2119C=
c.1537C= (p.Gln513=)
n.2072C=
n.2094C=
16g.50712021C>GCA395870942NOD2c.2029C>G (p.Gln677Glu)
c.2110C>G (p.Gln704Glu)
c.1606C>G (p.Gln536Glu)
c.1444C>G (p.Gln482Glu)
n.2119C>G
c.1537C>G (p.Gln513Glu)
n.2072C>G
n.2094C>G
16g.50712021C>TCA8051695NOD2c.2029C>T (p.Gln677Ter)
c.2110C>T (p.Gln704Ter)
c.1606C>T (p.Gln536Ter)
c.1444C>T (p.Gln482Ter)
n.2119C>T
c.1537C>T (p.Gln513Ter)
n.2072C>T
n.2094C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712022A=CA2221862507NOD2c.2030A= (p.Gln677=)
c.2111A= (p.Gln704=)
c.1607A= (p.Gln536=)
c.1445A= (p.Gln482=)
n.2120A=
c.1538A= (p.Gln513=)
n.2073A=
n.2095A=
16g.50712022A>CCA395870946NOD2c.2030A>C (p.Gln677Pro)
c.2111A>C (p.Gln704Pro)
c.1607A>C (p.Gln536Pro)
c.1445A>C (p.Gln482Pro)
n.2120A>C
c.1538A>C (p.Gln513Pro)
n.2073A>C
n.2095A>C
16g.50712022A>GCA8051696NOD2c.2030A>G (p.Gln677Arg)
c.2111A>G (p.Gln704Arg)
c.1607A>G (p.Gln536Arg)
c.1445A>G (p.Gln482Arg)
n.2120A>G
c.1538A>G (p.Gln513Arg)
n.2073A>G
n.2095A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712022A>TCA395870948NOD2c.2030A>T (p.Gln677Leu)
c.2111A>T (p.Gln704Leu)
c.1607A>T (p.Gln536Leu)
c.1445A>T (p.Gln482Leu)
n.2120A>T
c.1538A>T (p.Gln513Leu)
n.2073A>T
n.2095A>T
16g.50712023G>ACA281263860NOD2c.2031G>A (p.Gln677=)
c.2112G>A (p.Gln704=)
c.1608G>A (p.Gln536=)
c.1446G>A (p.Gln482=)
n.2121G>A
c.1539G>A (p.Gln513=)
n.2074G>A
n.2096G>A
 dbSNP
16g.50712023G>CCA395870952NOD2c.2031G>C (p.Gln677His)
c.2112G>C (p.Gln704His)
c.1608G>C (p.Gln536His)
c.1446G>C (p.Gln482His)
n.2121G>C
c.1539G>C (p.Gln513His)
n.2074G>C
n.2096G>C
16g.50712023G=CA2221862512NOD2c.2031G= (p.Gln677=)
c.2112G= (p.Gln704=)
c.1608G= (p.Gln536=)
c.1446G= (p.Gln482=)
n.2121G=
c.1539G= (p.Gln513=)
n.2074G=
n.2096G=
16g.50712023G>TCA395870950NOD2c.2031G>T (p.Gln677His)
c.2112G>T (p.Gln704His)
c.1608G>T (p.Gln536His)
c.1446G>T (p.Gln482His)
n.2121G>T
c.1539G>T (p.Gln513His)
n.2074G>T
n.2096G>T
16g.50712024G>ACA395870954NOD2c.2032G>A (p.Ala678Thr)
c.2113G>A (p.Ala705Thr)
c.1609G>A (p.Ala537Thr)
c.1447G>A (p.Ala483Thr)
n.2122G>A
c.1540G>A (p.Ala514Thr)
n.2075G>A
n.2097G>A
 dbSNP
16g.50712024G>CCA395870956NOD2c.2032G>C (p.Ala678Pro)
c.2113G>C (p.Ala705Pro)
c.1609G>C (p.Ala537Pro)
c.1447G>C (p.Ala483Pro)
n.2122G>C
c.1540G>C (p.Ala514Pro)
n.2075G>C
n.2097G>C
 gnomAD v4
16g.50712024G=CA2221862516NOD2c.2032G= (p.Ala678=)
c.2113G= (p.Ala705=)
c.1609G= (p.Ala537=)
c.1447G= (p.Ala483=)
n.2122G=
c.1540G= (p.Ala514=)
n.2075G=
n.2097G=
16g.50712024G>TCA8051697NOD2c.2032G>T (p.Ala678Ser)
c.2113G>T (p.Ala705Ser)
c.1609G>T (p.Ala537Ser)
c.1447G>T (p.Ala483Ser)
n.2122G>T
c.1540G>T (p.Ala514Ser)
n.2075G>T
n.2097G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712025C>ACA395870958NOD2c.2033C>A (p.Ala678Asp)
c.2114C>A (p.Ala705Asp)
c.1610C>A (p.Ala537Asp)
c.1448C>A (p.Ala483Asp)
n.2123C>A
c.1541C>A (p.Ala514Asp)
n.2076C>A
n.2098C>A
16g.50712025C=CA2221862519NOD2c.2033C= (p.Ala678=)
c.2114C= (p.Ala705=)
c.1610C= (p.Ala537=)
c.1448C= (p.Ala483=)
n.2123C=
c.1541C= (p.Ala514=)
n.2076C=
n.2098C=
16g.50712025C>GCA395870960NOD2c.2033C>G (p.Ala678Gly)
c.2114C>G (p.Ala705Gly)
c.1610C>G (p.Ala537Gly)
c.1448C>G (p.Ala483Gly)
n.2123C>G
c.1541C>G (p.Ala514Gly)
n.2076C>G
n.2098C>G
16g.50712025C>TCA8051698NOD2c.2033C>T (p.Ala678Val)
c.2114C>T (p.Ala705Val)
c.1610C>T (p.Ala537Val)
c.1448C>T (p.Ala483Val)
n.2123C>T
c.1541C>T (p.Ala514Val)
n.2076C>T
n.2098C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712026C>ACA495779399NOD2c.2034C>A (p.Ala678=)
c.2115C>A (p.Ala705=)
c.1611C>A (p.Ala537=)
c.1449C>A (p.Ala483=)
n.2124C>A
c.1542C>A (p.Ala514=)
n.2077C>A
n.2099C>A
16g.50712026C>GCA495779400NOD2c.2034C>G (p.Ala678=)
c.2115C>G (p.Ala705=)
c.1611C>G (p.Ala537=)
c.1449C>G (p.Ala483=)
n.2124C>G
c.1542C>G (p.Ala514=)
n.2077C>G
n.2099C>G
16g.50712026C>TCA495779401NOD2c.2034C>T (p.Ala678=)
c.2115C>T (p.Ala705=)
c.1611C>T (p.Ala537=)
c.1449C>T (p.Ala483=)
n.2124C>T
c.1542C>T (p.Ala514=)
n.2077C>T
n.2099C>T
16g.50712027T>ACA395870964NOD2c.2035T>A (p.Cys679Ser)
c.2116T>A (p.Cys706Ser)
c.1612T>A (p.Cys538Ser)
c.1450T>A (p.Cys484Ser)
n.2125T>A
c.1543T>A (p.Cys515Ser)
n.2078T>A
n.2100T>A
16g.50712027T>CCA395870968NOD2c.2035T>C (p.Cys679Arg)
c.2116T>C (p.Cys706Arg)
c.1612T>C (p.Cys538Arg)
c.1450T>C (p.Cys484Arg)
n.2125T>C
c.1543T>C (p.Cys515Arg)
n.2078T>C
n.2100T>C
16g.50712027T>GCA395870966NOD2c.2035T>G (p.Cys679Gly)
c.2116T>G (p.Cys706Gly)
c.1612T>G (p.Cys538Gly)
c.1450T>G (p.Cys484Gly)
n.2125T>G
c.1543T>G (p.Cys515Gly)
n.2078T>G
n.2100T>G
16g.50712028G>ACA8051700NOD2c.2036G>A (p.Cys679Tyr)
c.2117G>A (p.Cys706Tyr)
c.1613G>A (p.Cys538Tyr)
c.1451G>A (p.Cys484Tyr)
n.2126G>A
c.1544G>A (p.Cys515Tyr)
n.2079G>A
n.2101G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712028G>CCA8051699NOD2c.2036G>C (p.Cys679Ser)
c.2117G>C (p.Cys706Ser)
c.1613G>C (p.Cys538Ser)
c.1451G>C (p.Cys484Ser)
n.2126G>C
c.1544G>C (p.Cys515Ser)
n.2079G>C
n.2101G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712028G=CA2221862523NOD2c.2036G= (p.Cys679=)
c.2117G= (p.Cys706=)
c.1613G= (p.Cys538=)
c.1451G= (p.Cys484=)
n.2126G=
c.1544G= (p.Cys515=)
n.2079G=
n.2101G=
16g.50712028G>TCA395870970NOD2c.2036G>T (p.Cys679Phe)
c.2117G>T (p.Cys706Phe)
c.1613G>T (p.Cys538Phe)
c.1451G>T (p.Cys484Phe)
n.2126G>T
c.1544G>T (p.Cys515Phe)
n.2079G>T
n.2101G>T
16g.50712029T>ACA395870972NOD2c.2037T>A (p.Cys679Ter)
c.2118T>A (p.Cys706Ter)
c.1614T>A (p.Cys538Ter)
c.1452T>A (p.Cys484Ter)
n.2127T>A
c.1545T>A (p.Cys515Ter)
n.2080T>A
n.2102T>A
16g.50712029T>CCA495779406NOD2c.2037T>C (p.Cys679=)
c.2118T>C (p.Cys706=)
c.1614T>C (p.Cys538=)
c.1452T>C (p.Cys484=)
n.2127T>C
c.1545T>C (p.Cys515=)
n.2080T>C
n.2102T>C
16g.50712029T>GCA395870973NOD2c.2037T>G (p.Cys679Trp)
c.2118T>G (p.Cys706Trp)
c.1614T>G (p.Cys538Trp)
c.1452T>G (p.Cys484Trp)
n.2127T>G
c.1545T>G (p.Cys515Trp)
n.2080T>G
n.2102T>G
16g.50712030G>ACA395870976NOD2c.2038G>A (p.Ala680Thr)
c.2119G>A (p.Ala707Thr)
c.1615G>A (p.Ala539Thr)
c.1453G>A (p.Ala485Thr)
n.2128G>A
c.1546G>A (p.Ala516Thr)
n.2081G>A
n.2103G>A
16g.50712030G>CCA395870977NOD2c.2038G>C (p.Ala680Pro)
c.2119G>C (p.Ala707Pro)
c.1615G>C (p.Ala539Pro)
c.1453G>C (p.Ala485Pro)
n.2128G>C
c.1546G>C (p.Ala516Pro)
n.2081G>C
n.2103G>C
16g.50712030G>TCA395870979NOD2c.2038G>T (p.Ala680Ser)
c.2119G>T (p.Ala707Ser)
c.1615G>T (p.Ala539Ser)
c.1453G>T (p.Ala485Ser)
n.2128G>T
c.1546G>T (p.Ala516Ser)
n.2081G>T
n.2103G>T
16g.50712031C>ACA395870981NOD2c.2039C>A (p.Ala680Asp)
c.2120C>A (p.Ala707Asp)
c.1616C>A (p.Ala539Asp)
c.1454C>A (p.Ala485Asp)
n.2129C>A
c.1547C>A (p.Ala516Asp)
n.2082C>A
n.2104C>A
16g.50712031C=CA2221862525NOD2c.2039C= (p.Ala680=)
c.2120C= (p.Ala707=)
c.1616C= (p.Ala539=)
c.1454C= (p.Ala485=)
n.2129C=
c.1547C= (p.Ala516=)
n.2082C=
n.2104C=
16g.50712031C>GCA8051701NOD2c.2039C>G (p.Ala680Gly)
c.2120C>G (p.Ala707Gly)
c.1616C>G (p.Ala539Gly)
c.1454C>G (p.Ala485Gly)
n.2129C>G
c.1547C>G (p.Ala516Gly)
n.2082C>G
n.2104C>G
 dbSNP ExAC gnomAD v2
16g.50712031C>TCA395870984NOD2c.2039C>T (p.Ala680Val)
c.2120C>T (p.Ala707Val)
c.1616C>T (p.Ala539Val)
c.1454C>T (p.Ala485Val)
n.2129C>T
c.1547C>T (p.Ala516Val)
n.2082C>T
n.2104C>T
 dbSNP
16g.50712032C>ACA495779415NOD2c.2040C>A (p.Ala680=)
c.2121C>A (p.Ala707=)
c.1617C>A (p.Ala539=)
c.1455C>A (p.Ala485=)
n.2130C>A
c.1548C>A (p.Ala516=)
n.2083C>A
n.2105C>A
16g.50712032C=CA2221862530NOD2c.2040C= (p.Ala680=)
c.2121C= (p.Ala707=)
c.1617C= (p.Ala539=)
c.1455C= (p.Ala485=)
n.2130C=
c.1548C= (p.Ala516=)
n.2083C=
n.2105C=
16g.50712032C>GCA495779416NOD2c.2040C>G (p.Ala680=)
c.2121C>G (p.Ala707=)
c.1617C>G (p.Ala539=)
c.1455C>G (p.Ala485=)
n.2130C>G
c.1548C>G (p.Ala516=)
n.2083C>G
n.2105C>G
16g.50712032C>TCA8051702NOD2c.2040C>T (p.Ala680=)
c.2121C>T (p.Ala707=)
c.1617C>T (p.Ala539=)
c.1455C>T (p.Ala485=)
n.2130C>T
c.1548C>T (p.Ala516=)
n.2083C>T
n.2105C>T
 dbSNP ExAC gnomAD v2
16g.50712033C>ACA395870989NOD2c.2041C>A (p.Arg681Ser)
c.2122C>A (p.Arg708Ser)
c.1618C>A (p.Arg540Ser)
c.1456C>A (p.Arg486Ser)
n.2131C>A
c.1549C>A (p.Arg517Ser)
n.2084C>A
n.2106C>A
16g.50712033C=CA2221862535NOD2c.2041C= (p.Arg681=)
c.2122C= (p.Arg708=)
c.1618C= (p.Arg540=)
c.1456C= (p.Arg486=)
n.2131C=
c.1549C= (p.Arg517=)
n.2084C=
n.2106C=
16g.50712033C>GCA395870990NOD2c.2041C>G (p.Arg681Gly)
c.2122C>G (p.Arg708Gly)
c.1618C>G (p.Arg540Gly)
c.1456C>G (p.Arg486Gly)
n.2131C>G
c.1549C>G (p.Arg517Gly)
n.2084C>G
n.2106C>G
16g.50712033C>TCA8051703NOD2c.2041C>T (p.Arg681Cys)
c.2122C>T (p.Arg708Cys)
c.1618C>T (p.Arg540Cys)
c.1456C>T (p.Arg486Cys)
n.2131C>T
c.1549C>T (p.Arg517Cys)
n.2084C>T
n.2106C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712034G>ACA8051704NOD2c.2042G>A (p.Arg681His)
c.2123G>A (p.Arg708His)
c.1619G>A (p.Arg540His)
c.1457G>A (p.Arg486His)
n.2132G>A
c.1550G>A (p.Arg517His)
n.2085G>A
n.2107G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712034G>CCA395870993NOD2c.2042G>C (p.Arg681Pro)
c.2123G>C (p.Arg708Pro)
c.1619G>C (p.Arg540Pro)
c.1457G>C (p.Arg486Pro)
n.2132G>C
c.1550G>C (p.Arg517Pro)
n.2085G>C
n.2107G>C
 ClinVar
16g.50712034G=CA2221862539NOD2c.2042G= (p.Arg681=)
c.2123G= (p.Arg708=)
c.1619G= (p.Arg540=)
c.1457G= (p.Arg486=)
n.2132G=
c.1550G= (p.Arg517=)
n.2085G=
n.2107G=
16g.50712034G>TCA395870995NOD2c.2042G>T (p.Arg681Leu)
c.2123G>T (p.Arg708Leu)
c.1619G>T (p.Arg540Leu)
c.1457G>T (p.Arg486Leu)
n.2132G>T
c.1550G>T (p.Arg517Leu)
n.2085G>T
n.2107G>T
 ClinVar dbSNP gnomAD v4 COSMIC
16g.50712035C>ACA495779419NOD2c.2043C>A (p.Arg681=)
c.2124C>A (p.Arg708=)
c.1620C>A (p.Arg540=)
c.1458C>A (p.Arg486=)
n.2133C>A
c.1551C>A (p.Arg517=)
n.2086C>A
n.2108C>A
16g.50712035C>GCA495779421NOD2c.2043C>G (p.Arg681=)
c.2124C>G (p.Arg708=)
c.1620C>G (p.Arg540=)
c.1458C>G (p.Arg486=)
n.2133C>G
c.1551C>G (p.Arg517=)
n.2086C>G
n.2108C>G
16g.50712035C>TCA495779420NOD2c.2043C>T (p.Arg681=)
c.2124C>T (p.Arg708=)
c.1620C>T (p.Arg540=)
c.1458C>T (p.Arg486=)
n.2133C>T
c.1551C>T (p.Arg517=)
n.2086C>T
n.2108C>T
16g.50712036T>ACA395870997NOD2c.2044T>A (p.Trp682Arg)
c.2125T>A (p.Trp709Arg)
c.1621T>A (p.Trp541Arg)
c.1459T>A (p.Trp487Arg)
n.2134T>A
c.1552T>A (p.Trp518Arg)
n.2087T>A
n.2109T>A
16g.50712036T>CCA395871001NOD2c.2044T>C (p.Trp682Arg)
c.2125T>C (p.Trp709Arg)
c.1621T>C (p.Trp541Arg)
c.1459T>C (p.Trp487Arg)
n.2134T>C
c.1552T>C (p.Trp518Arg)
n.2087T>C
n.2109T>C
16g.50712036T>GCA395870999NOD2c.2044T>G (p.Trp682Gly)
c.2125T>G (p.Trp709Gly)
c.1621T>G (p.Trp541Gly)
c.1459T>G (p.Trp487Gly)
n.2134T>G
c.1552T>G (p.Trp518Gly)
n.2087T>G
n.2109T>G
16g.50712037G>ACA395871003NOD2c.2045G>A (p.Trp682Ter)
c.2126G>A (p.Trp709Ter)
c.1622G>A (p.Trp541Ter)
c.1460G>A (p.Trp487Ter)
n.2135G>A
c.1553G>A (p.Trp518Ter)
n.2088G>A
n.2110G>A
 dbSNP gnomAD v2 gnomAD v4
16g.50712037G>CCA395871005NOD2c.2045G>C (p.Trp682Ser)
c.2126G>C (p.Trp709Ser)
c.1622G>C (p.Trp541Ser)
c.1460G>C (p.Trp487Ser)
n.2135G>C
c.1553G>C (p.Trp518Ser)
n.2088G>C
n.2110G>C
16g.50712037G=CA2221862543NOD2c.2045G= (p.Trp682=)
c.2126G= (p.Trp709=)
c.1622G= (p.Trp541=)
c.1460G= (p.Trp487=)
n.2135G=
c.1553G= (p.Trp518=)
n.2088G=
n.2110G=
16g.50712037G>TCA395871007NOD2c.2045G>T (p.Trp682Leu)
c.2126G>T (p.Trp709Leu)
c.1622G>T (p.Trp541Leu)
c.1460G>T (p.Trp487Leu)
n.2135G>T
c.1553G>T (p.Trp518Leu)
n.2088G>T
n.2110G>T
16g.50712038G>ACA8051705NOD2c.2046G>A (p.Trp682Ter)
c.2127G>A (p.Trp709Ter)
c.1623G>A (p.Trp541Ter)
c.1461G>A (p.Trp487Ter)
n.2136G>A
c.1554G>A (p.Trp518Ter)
n.2089G>A
n.2111G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712038G>CCA395871010NOD2c.2046G>C (p.Trp682Cys)
c.2127G>C (p.Trp709Cys)
c.1623G>C (p.Trp541Cys)
c.1461G>C (p.Trp487Cys)
n.2136G>C
c.1554G>C (p.Trp518Cys)
n.2089G>C
n.2111G>C
16g.50712038G=CA2221862547NOD2c.2046G= (p.Trp682=)
c.2127G= (p.Trp709=)
c.1623G= (p.Trp541=)
c.1461G= (p.Trp487=)
n.2136G=
c.1554G= (p.Trp518=)
n.2089G=
n.2111G=
16g.50712038G>TCA395871012NOD2c.2046G>T (p.Trp682Cys)
c.2127G>T (p.Trp709Cys)
c.1623G>T (p.Trp541Cys)
c.1461G>T (p.Trp487Cys)
n.2136G>T
c.1554G>T (p.Trp518Cys)
n.2089G>T
n.2111G>T
 dbSNP gnomAD v3 gnomAD v4
16g.50712039T>ACA395871015NOD2c.2047T>A (p.Cys683Ser)
c.2128T>A (p.Cys710Ser)
c.1624T>A (p.Cys542Ser)
c.1462T>A (p.Cys488Ser)
n.2137T>A
c.1555T>A (p.Cys519Ser)
n.2090T>A
n.2112T>A
16g.50712039T>CCA395871017NOD2c.2047T>C (p.Cys683Arg)
c.2128T>C (p.Cys710Arg)
c.1624T>C (p.Cys542Arg)
c.1462T>C (p.Cys488Arg)
n.2137T>C
c.1555T>C (p.Cys519Arg)
n.2090T>C
n.2112T>C
16g.50712039T>GCA395871018NOD2c.2047T>G (p.Cys683Gly)
c.2128T>G (p.Cys710Gly)
c.1624T>G (p.Cys542Gly)
c.1462T>G (p.Cys488Gly)
n.2137T>G
c.1555T>G (p.Cys519Gly)
n.2090T>G
n.2112T>G
16g.50712040G>ACA395871021NOD2c.2048G>A (p.Cys683Tyr)
c.2129G>A (p.Cys710Tyr)
c.1625G>A (p.Cys542Tyr)
c.1463G>A (p.Cys488Tyr)
n.2138G>A
c.1556G>A (p.Cys519Tyr)
n.2091G>A
n.2113G>A
16g.50712040G>CCA395871022NOD2c.2048G>C (p.Cys683Ser)
c.2129G>C (p.Cys710Ser)
c.1625G>C (p.Cys542Ser)
c.1463G>C (p.Cys488Ser)
n.2138G>C
c.1556G>C (p.Cys519Ser)
n.2091G>C
n.2113G>C
16g.50712040G>TCA395871024NOD2c.2048G>T (p.Cys683Phe)
c.2129G>T (p.Cys710Phe)
c.1625G>T (p.Cys542Phe)
c.1463G>T (p.Cys488Phe)
n.2138G>T
c.1556G>T (p.Cys519Phe)
n.2091G>T
n.2113G>T
16g.50712041T>ACA395871026NOD2c.2049T>A (p.Cys683Ter)
c.2130T>A (p.Cys710Ter)
c.1626T>A (p.Cys542Ter)
c.1464T>A (p.Cys488Ter)
n.2139T>A
c.1557T>A (p.Cys519Ter)
n.2092T>A
n.2114T>A
16g.50712041T>CCA495779431NOD2c.2049T>C (p.Cys683=)
c.2130T>C (p.Cys710=)
c.1626T>C (p.Cys542=)
c.1464T>C (p.Cys488=)
n.2139T>C
c.1557T>C (p.Cys519=)
n.2092T>C
n.2114T>C
16g.50712041T>GCA395871027NOD2c.2049T>G (p.Cys683Trp)
c.2130T>G (p.Cys710Trp)
c.1626T>G (p.Cys542Trp)
c.1464T>G (p.Cys488Trp)
n.2139T>G
c.1557T>G (p.Cys519Trp)
n.2092T>G
n.2114T>G
16g.50712042C>ACA395871030NOD2c.2050C>A (p.Leu684Met)
c.2131C>A (p.Leu711Met)
c.1627C>A (p.Leu543Met)
c.1465C>A (p.Leu489Met)
n.2140C>A
c.1558C>A (p.Leu520Met)
n.2093C>A
n.2115C>A
16g.50712042C>GCA395871032NOD2c.2050C>G (p.Leu684Val)
c.2131C>G (p.Leu711Val)
c.1627C>G (p.Leu543Val)
c.1465C>G (p.Leu489Val)
n.2140C>G
c.1558C>G (p.Leu520Val)
n.2093C>G
n.2115C>G
16g.50712042C>TCA495779433NOD2c.2050C>T (p.Leu684=)
c.2131C>T (p.Leu711=)
c.1627C>T (p.Leu543=)
c.1465C>T (p.Leu489=)
n.2140C>T
c.1558C>T (p.Leu520=)
n.2093C>T
n.2115C>T
16g.50712043T>ACA395871034NOD2c.2051T>A (p.Leu684Gln)
c.2132T>A (p.Leu711Gln)
c.1628T>A (p.Leu543Gln)
c.1466T>A (p.Leu489Gln)
n.2141T>A
c.1559T>A (p.Leu520Gln)
n.2094T>A
n.2116T>A
16g.50712043T>CCA395871036NOD2c.2051T>C (p.Leu684Pro)
c.2132T>C (p.Leu711Pro)
c.1628T>C (p.Leu543Pro)
c.1466T>C (p.Leu489Pro)
n.2141T>C
c.1559T>C (p.Leu520Pro)
n.2094T>C
n.2116T>C
16g.50712043T>GCA395871038NOD2c.2051T>G (p.Leu684Arg)
c.2132T>G (p.Leu711Arg)
c.1628T>G (p.Leu543Arg)
c.1466T>G (p.Leu489Arg)
n.2141T>G
c.1559T>G (p.Leu520Arg)
n.2094T>G
n.2116T>G
16g.50712044G>ACA495779435NOD2c.2052G>A (p.Leu684=)
c.2133G>A (p.Leu711=)
c.1629G>A (p.Leu543=)
c.1467G>A (p.Leu489=)
n.2142G>A
c.1560G>A (p.Leu520=)
n.2095G>A
n.2117G>A
16g.50712044G>CCA495779436NOD2c.2052G>C (p.Leu684=)
c.2133G>C (p.Leu711=)
c.1629G>C (p.Leu543=)
c.1467G>C (p.Leu489=)
n.2142G>C
c.1560G>C (p.Leu520=)
n.2095G>C
n.2117G>C
16g.50712044G>TCA495779437NOD2c.2052G>T (p.Leu684=)
c.2133G>T (p.Leu711=)
c.1629G>T (p.Leu543=)
c.1467G>T (p.Leu489=)
n.2142G>T
c.1560G>T (p.Leu520=)
n.2095G>T
n.2117G>T
16g.50712045G>ACA395871040NOD2c.2053G>A (p.Ala685Thr)
c.2134G>A (p.Ala712Thr)
c.1630G>A (p.Ala544Thr)
c.1468G>A (p.Ala490Thr)
n.2143G>A
c.1561G>A (p.Ala521Thr)
n.2096G>A
n.2118G>A
16g.50712045G>CCA395871041NOD2c.2053G>C (p.Ala685Pro)
c.2134G>C (p.Ala712Pro)
c.1630G>C (p.Ala544Pro)
c.1468G>C (p.Ala490Pro)
n.2143G>C
c.1561G>C (p.Ala521Pro)
n.2096G>C
n.2118G>C
16g.50712045G>TCA395871043NOD2c.2053G>T (p.Ala685Ser)
c.2134G>T (p.Ala712Ser)
c.1630G>T (p.Ala544Ser)
c.1468G>T (p.Ala490Ser)
n.2143G>T
c.1561G>T (p.Ala521Ser)
n.2096G>T
n.2118G>T
16g.50712046C>ACA395871046NOD2c.2054C>A (p.Ala685Asp)
c.2135C>A (p.Ala712Asp)
c.1631C>A (p.Ala544Asp)
c.1469C>A (p.Ala490Asp)
n.2144C>A
c.1562C>A (p.Ala521Asp)
n.2097C>A
n.2119C>A
16g.50712046C>GCA395871048NOD2c.2054C>G (p.Ala685Gly)
c.2135C>G (p.Ala712Gly)
c.1631C>G (p.Ala544Gly)
c.1469C>G (p.Ala490Gly)
n.2144C>G
c.1562C>G (p.Ala521Gly)
n.2097C>G
n.2119C>G
16g.50712046C>TCA395871049NOD2c.2054C>T (p.Ala685Val)
c.2135C>T (p.Ala712Val)
c.1631C>T (p.Ala544Val)
c.1469C>T (p.Ala490Val)
n.2144C>T
c.1562C>T (p.Ala521Val)
n.2097C>T
n.2119C>T
 gnomAD v4
16g.50712047C>ACA495779443NOD2c.2055C>A (p.Ala685=)
c.2136C>A (p.Ala712=)
c.1632C>A (p.Ala544=)
c.1470C>A (p.Ala490=)
n.2145C>A
c.1563C>A (p.Ala521=)
n.2098C>A
n.2120C>A
16g.50712047C>GCA495779444NOD2c.2055C>G (p.Ala685=)
c.2136C>G (p.Ala712=)
c.1632C>G (p.Ala544=)
c.1470C>G (p.Ala490=)
n.2145C>G
c.1563C>G (p.Ala521=)
n.2098C>G
n.2120C>G
16g.50712047C>TCA495779445NOD2c.2055C>T (p.Ala685=)
c.2136C>T (p.Ala712=)
c.1632C>T (p.Ala544=)
c.1470C>T (p.Ala490=)
n.2145C>T
c.1563C>T (p.Ala521=)
n.2098C>T
n.2120C>T
 COSMIC
16g.50712048C>ACA395871051NOD2c.2056C>A (p.Arg686Ser)
c.2137C>A (p.Arg713Ser)
c.1633C>A (p.Arg545Ser)
c.1471C>A (p.Arg491Ser)
n.2146C>A
c.1564C>A (p.Arg522Ser)
n.2099C>A
n.2121C>A
16g.50712048C=CA2221862551NOD2c.2056C= (p.Arg686=)
c.2137C= (p.Arg713=)
c.1633C= (p.Arg545=)
c.1471C= (p.Arg491=)
n.2146C=
c.1564C= (p.Arg522=)
n.2099C=
n.2121C=
16g.50712048C>GCA395871053NOD2c.2056C>G (p.Arg686Gly)
c.2137C>G (p.Arg713Gly)
c.1633C>G (p.Arg545Gly)
c.1471C>G (p.Arg491Gly)
n.2146C>G
c.1564C>G (p.Arg522Gly)
n.2099C>G
n.2121C>G
16g.50712048C>TCA150241NOD2c.2056C>T (p.Arg686Cys)
c.2137C>T (p.Arg713Cys)
c.1633C>T (p.Arg545Cys)
c.1471C>T (p.Arg491Cys)
n.2146C>T
c.1564C>T (p.Arg522Cys)
n.2099C>T
n.2121C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712049G>ACA150244NOD2c.2057G>A (p.Arg686His)
c.2138G>A (p.Arg713His)
c.1634G>A (p.Arg545His)
c.1472G>A (p.Arg491His)
n.2147G>A
c.1565G>A (p.Arg522His)
n.2100G>A
n.2122G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712049G>CCA395871056NOD2c.2057G>C (p.Arg686Pro)
c.2138G>C (p.Arg713Pro)
c.1634G>C (p.Arg545Pro)
c.1472G>C (p.Arg491Pro)
n.2147G>C
c.1565G>C (p.Arg522Pro)
n.2100G>C
n.2122G>C
16g.50712049G=CA2221862557NOD2c.2057G= (p.Arg686=)
c.2138G= (p.Arg713=)
c.1634G= (p.Arg545=)
c.1472G= (p.Arg491=)
n.2147G=
c.1565G= (p.Arg522=)
n.2100G=
n.2122G=
16g.50712049G>TCA395871058NOD2c.2057G>T (p.Arg686Leu)
c.2138G>T (p.Arg713Leu)
c.1634G>T (p.Arg545Leu)
c.1472G>T (p.Arg491Leu)
n.2147G>T
c.1565G>T (p.Arg522Leu)
n.2100G>T
n.2122G>T
 dbSNP gnomAD v4
16g.50712050C>ACA495779451NOD2c.2058C>A (p.Arg686=)
c.2139C>A (p.Arg713=)
c.1635C>A (p.Arg545=)
c.1473C>A (p.Arg491=)
n.2148C>A
c.1566C>A (p.Arg522=)
n.2101C>A
n.2123C>A
16g.50712050C>GCA495779452NOD2c.2058C>G (p.Arg686=)
c.2139C>G (p.Arg713=)
c.1635C>G (p.Arg545=)
c.1473C>G (p.Arg491=)
n.2148C>G
c.1566C>G (p.Arg522=)
n.2101C>G
n.2123C>G
16g.50712050C>TCA495779454NOD2c.2058C>T (p.Arg686=)
c.2139C>T (p.Arg713=)
c.1635C>T (p.Arg545=)
c.1473C>T (p.Arg491=)
n.2148C>T
c.1566C>T (p.Arg522=)
n.2101C>T
n.2123C>T

Number of alleles fetched