Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
16g.50712051A>CCA395871061NOD2c.2059A>C (p.Ser687Arg)
c.2140A>C (p.Ser714Arg)
c.1636A>C (p.Ser546Arg)
c.1474A>C (p.Ser492Arg)
n.2149A>C
c.1567A>C (p.Ser523Arg)
n.2102A>C
n.2124A>C
16g.50712051A>GCA395871062NOD2c.2059A>G (p.Ser687Gly)
c.2140A>G (p.Ser714Gly)
c.1636A>G (p.Ser546Gly)
c.1474A>G (p.Ser492Gly)
n.2149A>G
c.1567A>G (p.Ser523Gly)
n.2102A>G
n.2124A>G
16g.50712051A>TCA395871063NOD2c.2059A>T (p.Ser687Cys)
c.2140A>T (p.Ser714Cys)
c.1636A>T (p.Ser546Cys)
c.1474A>T (p.Ser492Cys)
n.2149A>T
c.1567A>T (p.Ser523Cys)
n.2102A>T
n.2124A>T
16g.50712052G>ACA395871068NOD2c.2060G>A (p.Ser687Asn)
c.2141G>A (p.Ser714Asn)
c.1637G>A (p.Ser546Asn)
c.1475G>A (p.Ser492Asn)
n.2150G>A
c.1568G>A (p.Ser523Asn)
n.2103G>A
n.2125G>A
16g.50712052G>CCA395871065NOD2c.2060G>C (p.Ser687Thr)
c.2141G>C (p.Ser714Thr)
c.1637G>C (p.Ser546Thr)
c.1475G>C (p.Ser492Thr)
n.2150G>C
c.1568G>C (p.Ser523Thr)
n.2103G>C
n.2125G>C
16g.50712052G>TCA395871066NOD2c.2060G>T (p.Ser687Ile)
c.2141G>T (p.Ser714Ile)
c.1637G>T (p.Ser546Ile)
c.1475G>T (p.Ser492Ile)
n.2150G>T
c.1568G>T (p.Ser523Ile)
n.2103G>T
n.2125G>T
16g.50712053C>ACA395871070NOD2c.2061C>A (p.Ser687Arg)
c.2142C>A (p.Ser714Arg)
c.1638C>A (p.Ser546Arg)
c.1476C>A (p.Ser492Arg)
n.2151C>A
c.1569C>A (p.Ser523Arg)
n.2104C>A
n.2126C>A
16g.50712053C=CA2221862561NOD2c.2061C= (p.Ser687=)
c.2142C= (p.Ser714=)
c.1638C= (p.Ser546=)
c.1476C= (p.Ser492=)
n.2151C=
c.1569C= (p.Ser523=)
n.2104C=
n.2126C=
16g.50712053C>GCA395871072NOD2c.2061C>G (p.Ser687Arg)
c.2142C>G (p.Ser714Arg)
c.1638C>G (p.Ser546Arg)
c.1476C>G (p.Ser492Arg)
n.2151C>G
c.1569C>G (p.Ser523Arg)
n.2104C>G
n.2126C>G
16g.50712053C>TCA495779459NOD2c.2061C>T (p.Ser687=)
c.2142C>T (p.Ser714=)
c.1638C>T (p.Ser546=)
c.1476C>T (p.Ser492=)
n.2151C>T
c.1569C>T (p.Ser523=)
n.2104C>T
n.2126C>T
 dbSNP gnomAD v2 gnomAD v4
16g.50712054C>ACA395871074NOD2c.2062C>A (p.Leu688Ile)
c.2143C>A (p.Leu715Ile)
c.1639C>A (p.Leu547Ile)
c.1477C>A (p.Leu493Ile)
n.2152C>A
c.1570C>A (p.Leu524Ile)
n.2105C>A
n.2127C>A
16g.50712054C>GCA395871076NOD2c.2062C>G (p.Leu688Val)
c.2143C>G (p.Leu715Val)
c.1639C>G (p.Leu547Val)
c.1477C>G (p.Leu493Val)
n.2152C>G
c.1570C>G (p.Leu524Val)
n.2105C>G
n.2127C>G
16g.50712054C>TCA395871077NOD2c.2062C>T (p.Leu688Phe)
c.2143C>T (p.Leu715Phe)
c.1639C>T (p.Leu547Phe)
c.1477C>T (p.Leu493Phe)
n.2152C>T
c.1570C>T (p.Leu524Phe)
n.2105C>T
n.2127C>T
16g.50712055T>ACA395871080NOD2c.2063T>A (p.Leu688His)
c.2144T>A (p.Leu715His)
c.1640T>A (p.Leu547His)
c.1478T>A (p.Leu493His)
n.2153T>A
c.1571T>A (p.Leu524His)
n.2106T>A
n.2128T>A
16g.50712055T>CCA395871083NOD2c.2063T>C (p.Leu688Pro)
c.2144T>C (p.Leu715Pro)
c.1640T>C (p.Leu547Pro)
c.1478T>C (p.Leu493Pro)
n.2153T>C
c.1571T>C (p.Leu524Pro)
n.2106T>C
n.2128T>C
16g.50712055T>GCA395871082NOD2c.2063T>G (p.Leu688Arg)
c.2144T>G (p.Leu715Arg)
c.1640T>G (p.Leu547Arg)
c.1478T>G (p.Leu493Arg)
n.2153T>G
c.1571T>G (p.Leu524Arg)
n.2106T>G
n.2128T>G
16g.50712056C>ACA495779468NOD2c.2064C>A (p.Leu688=)
c.2145C>A (p.Leu715=)
c.1641C>A (p.Leu547=)
c.1479C>A (p.Leu493=)
n.2154C>A
c.1572C>A (p.Leu524=)
n.2107C>A
n.2129C>A
16g.50712056C>GCA495779467NOD2c.2064C>G (p.Leu688=)
c.2145C>G (p.Leu715=)
c.1641C>G (p.Leu547=)
c.1479C>G (p.Leu493=)
n.2154C>G
c.1572C>G (p.Leu524=)
n.2107C>G
n.2129C>G
16g.50712056C>TCA495779466NOD2c.2064C>T (p.Leu688=)
c.2145C>T (p.Leu715=)
c.1641C>T (p.Leu547=)
c.1479C>T (p.Leu493=)
n.2154C>T
c.1572C>T (p.Leu524=)
n.2107C>T
n.2129C>T
16g.50712057C>ACA395871086NOD2c.2065C>A (p.Arg689Ser)
c.2146C>A (p.Arg716Ser)
c.1642C>A (p.Arg548Ser)
c.1480C>A (p.Arg494Ser)
n.2155C>A
c.1573C>A (p.Arg525Ser)
n.2108C>A
n.2130C>A
16g.50712057C=CA2221862564NOD2c.2065C= (p.Arg689=)
c.2146C= (p.Arg716=)
c.1642C= (p.Arg548=)
c.1480C= (p.Arg494=)
n.2155C=
c.1573C= (p.Arg525=)
n.2108C=
n.2130C=
16g.50712057C>GCA395871088NOD2c.2065C>G (p.Arg689Gly)
c.2146C>G (p.Arg716Gly)
c.1642C>G (p.Arg548Gly)
c.1480C>G (p.Arg494Gly)
n.2155C>G
c.1573C>G (p.Arg525Gly)
n.2108C>G
n.2130C>G
 gnomAD v4
16g.50712057C>TCA8051706NOD2c.2065C>T (p.Arg689Cys)
c.2146C>T (p.Arg716Cys)
c.1642C>T (p.Arg548Cys)
c.1480C>T (p.Arg494Cys)
n.2155C>T
c.1573C>T (p.Arg525Cys)
n.2108C>T
n.2130C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712058G>ACA8051707NOD2c.2066G>A (p.Arg689His)
c.2147G>A (p.Arg716His)
c.1643G>A (p.Arg548His)
c.1481G>A (p.Arg494His)
n.2156G>A
c.1574G>A (p.Arg525His)
n.2109G>A
n.2131G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712058G>CCA395871092NOD2c.2066G>C (p.Arg689Pro)
c.2147G>C (p.Arg716Pro)
c.1643G>C (p.Arg548Pro)
c.1481G>C (p.Arg494Pro)
n.2156G>C
c.1574G>C (p.Arg525Pro)
n.2109G>C
n.2131G>C
16g.50712058G=CA2221862568NOD2c.2066G= (p.Arg689=)
c.2147G= (p.Arg716=)
c.1643G= (p.Arg548=)
c.1481G= (p.Arg494=)
n.2156G=
c.1574G= (p.Arg525=)
n.2109G=
n.2131G=
16g.50712058G>TCA395871093NOD2c.2066G>T (p.Arg689Leu)
c.2147G>T (p.Arg716Leu)
c.1643G>T (p.Arg548Leu)
c.1481G>T (p.Arg494Leu)
n.2156G>T
c.1574G>T (p.Arg525Leu)
n.2109G>T
n.2131G>T
 ClinVar gnomAD v4
16g.50712059C>ACA495779476NOD2c.2067C>A (p.Arg689=)
c.2148C>A (p.Arg716=)
c.1644C>A (p.Arg548=)
c.1482C>A (p.Arg494=)
n.2157C>A
c.1575C>A (p.Arg525=)
n.2110C>A
n.2132C>A
16g.50712059C>GCA495779475NOD2c.2067C>G (p.Arg689=)
c.2148C>G (p.Arg716=)
c.1644C>G (p.Arg548=)
c.1482C>G (p.Arg494=)
n.2157C>G
c.1575C>G (p.Arg525=)
n.2110C>G
n.2132C>G
16g.50712059C>TCA495779474NOD2c.2067C>T (p.Arg689=)
c.2148C>T (p.Arg716=)
c.1644C>T (p.Arg548=)
c.1482C>T (p.Arg494=)
n.2157C>T
c.1575C>T (p.Arg525=)
n.2110C>T
n.2132C>T
 ClinVar
16g.50712060A>CCA395871096NOD2c.2068A>C (p.Lys690Gln)
c.2149A>C (p.Lys717Gln)
c.1645A>C (p.Lys549Gln)
c.1483A>C (p.Lys495Gln)
n.2158A>C
c.1576A>C (p.Lys526Gln)
n.2111A>C
n.2133A>C
16g.50712060A>GCA395871098NOD2c.2068A>G (p.Lys690Glu)
c.2149A>G (p.Lys717Glu)
c.1645A>G (p.Lys549Glu)
c.1483A>G (p.Lys495Glu)
n.2158A>G
c.1576A>G (p.Lys526Glu)
n.2111A>G
n.2133A>G
16g.50712060A>TCA395871099NOD2c.2068A>T (p.Lys690Ter)
c.2149A>T (p.Lys717Ter)
c.1645A>T (p.Lys549Ter)
c.1483A>T (p.Lys495Ter)
n.2158A>T
c.1576A>T (p.Lys526Ter)
n.2111A>T
n.2133A>T
16g.50712061A>CCA395871102NOD2c.2069A>C (p.Lys690Thr)
c.2150A>C (p.Lys717Thr)
c.1646A>C (p.Lys549Thr)
c.1484A>C (p.Lys495Thr)
n.2159A>C
c.1577A>C (p.Lys526Thr)
n.2112A>C
n.2134A>C
16g.50712061A>GCA395871103NOD2c.2069A>G (p.Lys690Arg)
c.2150A>G (p.Lys717Arg)
c.1646A>G (p.Lys549Arg)
c.1484A>G (p.Lys495Arg)
n.2159A>G
c.1577A>G (p.Lys526Arg)
n.2112A>G
n.2134A>G
 gnomAD v4
16g.50712061A>TCA395871105NOD2c.2069A>T (p.Lys690Met)
c.2150A>T (p.Lys717Met)
c.1646A>T (p.Lys549Met)
c.1484A>T (p.Lys495Met)
n.2159A>T
c.1577A>T (p.Lys526Met)
n.2112A>T
n.2134A>T
16g.50712062G>ACA495778995NOD2c.2070G>A (p.Lys690=)
c.2151G>A (p.Lys717=)
c.1647G>A (p.Lys549=)
c.1485G>A (p.Lys495=)
n.2160G>A
c.1578G>A (p.Lys526=)
n.2113G>A
n.2135G>A
 gnomAD v4
16g.50712062G>CCA395871106NOD2c.2070G>C (p.Lys690Asn)
c.2151G>C (p.Lys717Asn)
c.1647G>C (p.Lys549Asn)
c.1485G>C (p.Lys495Asn)
n.2160G>C
c.1578G>C (p.Lys526Asn)
n.2113G>C
n.2135G>C
 dbSNP gnomAD v2
16g.50712062G=CA2221862570NOD2c.2070G= (p.Lys690=)
c.2151G= (p.Lys717=)
c.1647G= (p.Lys549=)
c.1485G= (p.Lys495=)
n.2160G=
c.1578G= (p.Lys526=)
n.2113G=
n.2135G=
16g.50712062G>TCA395871107NOD2c.2070G>T (p.Lys690Asn)
c.2151G>T (p.Lys717Asn)
c.1647G>T (p.Lys549Asn)
c.1485G>T (p.Lys495Asn)
n.2160G>T
c.1578G>T (p.Lys526Asn)
n.2113G>T
n.2135G>T
16g.50712063C>ACA395871108NOD2c.2071C>A (p.His691Asn)
c.2152C>A (p.His718Asn)
c.1648C>A (p.His550Asn)
c.1486C>A (p.His496Asn)
n.2161C>A
c.1579C>A (p.His527Asn)
n.2114C>A
n.2136C>A
16g.50712063C>GCA395871110NOD2c.2071C>G (p.His691Asp)
c.2152C>G (p.His718Asp)
c.1648C>G (p.His550Asp)
c.1486C>G (p.His496Asp)
n.2161C>G
c.1579C>G (p.His527Asp)
n.2114C>G
n.2136C>G
16g.50712063C>TCA395871109NOD2c.2071C>T (p.His691Tyr)
c.2152C>T (p.His718Tyr)
c.1648C>T (p.His550Tyr)
c.1486C>T (p.His496Tyr)
n.2161C>T
c.1579C>T (p.His527Tyr)
n.2114C>T
n.2136C>T
16g.50712064A>CCA395871113NOD2c.2072A>C (p.His691Pro)
c.2153A>C (p.His718Pro)
c.1649A>C (p.His550Pro)
c.1487A>C (p.His496Pro)
n.2162A>C
c.1580A>C (p.His527Pro)
n.2115A>C
n.2137A>C
16g.50712064A>GCA395871114NOD2c.2072A>G (p.His691Arg)
c.2153A>G (p.His718Arg)
c.1649A>G (p.His550Arg)
c.1487A>G (p.His496Arg)
n.2162A>G
c.1580A>G (p.His527Arg)
n.2115A>G
n.2137A>G
16g.50712064A>TCA395871116NOD2c.2072A>T (p.His691Leu)
c.2153A>T (p.His718Leu)
c.1649A>T (p.His550Leu)
c.1487A>T (p.His496Leu)
n.2162A>T
c.1580A>T (p.His527Leu)
n.2115A>T
n.2137A>T
16g.50712065C>ACA395871118NOD2c.2073C>A (p.His691Gln)
c.2154C>A (p.His718Gln)
c.1650C>A (p.His550Gln)
c.1488C>A (p.His496Gln)
n.2163C>A
c.1581C>A (p.His527Gln)
n.2116C>A
n.2138C>A
16g.50712065C=CA2221862572NOD2c.2073C= (p.His691=)
c.2154C= (p.His718=)
c.1650C= (p.His550=)
c.1488C= (p.His496=)
n.2163C=
c.1581C= (p.His527=)
n.2116C=
n.2138C=
16g.50712065C>GCA395871120NOD2c.2073C>G (p.His691Gln)
c.2154C>G (p.His718Gln)
c.1650C>G (p.His550Gln)
c.1488C>G (p.His496Gln)
n.2163C>G
c.1581C>G (p.His527Gln)
n.2116C>G
n.2138C>G
 gnomAD v4
16g.50712065C>TCA8051708NOD2c.2073C>T (p.His691=)
c.2154C>T (p.His718=)
c.1650C>T (p.His550=)
c.1488C>T (p.His496=)
n.2163C>T
c.1581C>T (p.His527=)
n.2116C>T
n.2138C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712066T>ACA395871121NOD2c.2074T>A (p.Phe692Ile)
c.2155T>A (p.Phe719Ile)
c.1651T>A (p.Phe551Ile)
c.1489T>A (p.Phe497Ile)
n.2164T>A
c.1582T>A (p.Phe528Ile)
n.2117T>A
n.2139T>A
16g.50712066T>CCA395871123NOD2c.2074T>C (p.Phe692Leu)
c.2155T>C (p.Phe719Leu)
c.1651T>C (p.Phe551Leu)
c.1489T>C (p.Phe497Leu)
n.2164T>C
c.1582T>C (p.Phe528Leu)
n.2117T>C
n.2139T>C
16g.50712066T>GCA395871125NOD2c.2074T>G (p.Phe692Val)
c.2155T>G (p.Phe719Val)
c.1651T>G (p.Phe551Val)
c.1489T>G (p.Phe497Val)
n.2164T>G
c.1582T>G (p.Phe528Val)
n.2117T>G
n.2139T>G
16g.50712067T>ACA395871128NOD2c.2075T>A (p.Phe692Tyr)
c.2156T>A (p.Phe719Tyr)
c.1652T>A (p.Phe551Tyr)
c.1490T>A (p.Phe497Tyr)
n.2165T>A
c.1583T>A (p.Phe528Tyr)
n.2118T>A
n.2140T>A
16g.50712067T>CCA395871130NOD2c.2075T>C (p.Phe692Ser)
c.2156T>C (p.Phe719Ser)
c.1652T>C (p.Phe551Ser)
c.1490T>C (p.Phe497Ser)
n.2165T>C
c.1583T>C (p.Phe528Ser)
n.2118T>C
n.2140T>C
16g.50712067T>GCA395871132NOD2c.2075T>G (p.Phe692Cys)
c.2156T>G (p.Phe719Cys)
c.1652T>G (p.Phe551Cys)
c.1490T>G (p.Phe497Cys)
n.2165T>G
c.1583T>G (p.Phe528Cys)
n.2118T>G
n.2140T>G
16g.50712068C>ACA395871134NOD2c.2076C>A (p.Phe692Leu)
c.2157C>A (p.Phe719Leu)
c.1653C>A (p.Phe551Leu)
c.1491C>A (p.Phe497Leu)
n.2166C>A
c.1584C>A (p.Phe528Leu)
n.2119C>A
n.2141C>A
16g.50712068C>GCA395871133NOD2c.2076C>G (p.Phe692Leu)
c.2157C>G (p.Phe719Leu)
c.1653C>G (p.Phe551Leu)
c.1491C>G (p.Phe497Leu)
n.2166C>G
c.1584C>G (p.Phe528Leu)
n.2119C>G
n.2141C>G
16g.50712068C>TCA495778996NOD2c.2076C>T (p.Phe692=)
c.2157C>T (p.Phe719=)
c.1653C>T (p.Phe551=)
c.1491C>T (p.Phe497=)
n.2166C>T
c.1584C>T (p.Phe528=)
n.2119C>T
n.2141C>T
16g.50712069dupCA2633164582NOD2c.2077dup (p.His693ProfsTer10)
c.2158dup (p.His720ProfsTer10)
c.1654dup (p.His552ProfsTer10)
c.1492dup (p.His498ProfsTer10)
n.2167dup
c.1585dup (p.His529ProfsTer10)
n.2120dup
n.2142dup
 gnomAD v4
16g.50712069C>ACA395871136NOD2c.2077C>A (p.His693Asn)
c.2158C>A (p.His720Asn)
c.1654C>A (p.His552Asn)
c.1492C>A (p.His498Asn)
n.2167C>A
c.1585C>A (p.His529Asn)
n.2120C>A
n.2142C>A
16g.50712069C=CA2221862574NOD2c.2077C= (p.His693=)
c.2158C= (p.His720=)
c.1654C= (p.His552=)
c.1492C= (p.His498=)
n.2167C=
c.1585C= (p.His529=)
n.2120C=
n.2142C=
16g.50712069C>GCA395871138NOD2c.2077C>G (p.His693Asp)
c.2158C>G (p.His720Asp)
c.1654C>G (p.His552Asp)
c.1492C>G (p.His498Asp)
n.2167C>G
c.1585C>G (p.His529Asp)
n.2120C>G
n.2142C>G
16g.50712069C>TCA8051709NOD2c.2077C>T (p.His693Tyr)
c.2158C>T (p.His720Tyr)
c.1654C>T (p.His552Tyr)
c.1492C>T (p.His498Tyr)
n.2167C>T
c.1585C>T (p.His529Tyr)
n.2120C>T
n.2142C>T
 dbSNP ExAC gnomAD v2
16g.50712070A>CCA395871140NOD2c.2078A>C (p.His693Pro)
c.2159A>C (p.His720Pro)
c.1655A>C (p.His552Pro)
c.1493A>C (p.His498Pro)
n.2168A>C
c.1586A>C (p.His529Pro)
n.2121A>C
n.2143A>C
16g.50712070A>GCA395871142NOD2c.2078A>G (p.His693Arg)
c.2159A>G (p.His720Arg)
c.1655A>G (p.His552Arg)
c.1493A>G (p.His498Arg)
n.2168A>G
c.1586A>G (p.His529Arg)
n.2121A>G
n.2143A>G
16g.50712070A>TCA395871144NOD2c.2078A>T (p.His693Leu)
c.2159A>T (p.His720Leu)
c.1655A>T (p.His552Leu)
c.1493A>T (p.His498Leu)
n.2168A>T
c.1586A>T (p.His529Leu)
n.2121A>T
n.2143A>T
16g.50712071C>ACA395871146NOD2c.2079C>A (p.His693Gln)
c.2160C>A (p.His720Gln)
c.1656C>A (p.His552Gln)
c.1494C>A (p.His498Gln)
n.2169C>A
c.1587C>A (p.His529Gln)
n.2122C>A
n.2144C>A
 ClinVar
16g.50712071C=CA2221862579NOD2c.2079C= (p.His693=)
c.2160C= (p.His720=)
c.1656C= (p.His552=)
c.1494C= (p.His498=)
n.2169C=
c.1587C= (p.His529=)
n.2122C=
n.2144C=
16g.50712071C>GCA395871148NOD2c.2079C>G (p.His693Gln)
c.2160C>G (p.His720Gln)
c.1656C>G (p.His552Gln)
c.1494C>G (p.His498Gln)
n.2169C>G
c.1587C>G (p.His529Gln)
n.2122C>G
n.2144C>G
16g.50712071C>TCA8051710NOD2c.2079C>T (p.His693=)
c.2160C>T (p.His720=)
c.1656C>T (p.His552=)
c.1494C>T (p.His498=)
n.2169C>T
c.1587C>T (p.His529=)
n.2122C>T
n.2144C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712072T>ACA395871152NOD2c.2080T>A (p.Ser694Thr)
c.2161T>A (p.Ser721Thr)
c.1657T>A (p.Ser553Thr)
c.1495T>A (p.Ser499Thr)
n.2170T>A
c.1588T>A (p.Ser530Thr)
n.2123T>A
n.2145T>A
16g.50712072T>CCA395871153NOD2c.2080T>C (p.Ser694Pro)
c.2161T>C (p.Ser721Pro)
c.1657T>C (p.Ser553Pro)
c.1495T>C (p.Ser499Pro)
n.2170T>C
c.1588T>C (p.Ser530Pro)
n.2123T>C
n.2145T>C
16g.50712072T>GCA395871154NOD2c.2080T>G (p.Ser694Ala)
c.2161T>G (p.Ser721Ala)
c.1657T>G (p.Ser553Ala)
c.1495T>G (p.Ser499Ala)
n.2170T>G
c.1588T>G (p.Ser530Ala)
n.2123T>G
n.2145T>G
16g.50712073C>ACA395871160NOD2c.2081C>A (p.Ser694Tyr)
c.2162C>A (p.Ser721Tyr)
c.1658C>A (p.Ser553Tyr)
c.1496C>A (p.Ser499Tyr)
n.2171C>A
c.1589C>A (p.Ser530Tyr)
n.2124C>A
n.2146C>A
 gnomAD v4
16g.50712073C>GCA395871158NOD2c.2081C>G (p.Ser694Cys)
c.2162C>G (p.Ser721Cys)
c.1658C>G (p.Ser553Cys)
c.1496C>G (p.Ser499Cys)
n.2171C>G
c.1589C>G (p.Ser530Cys)
n.2124C>G
n.2146C>G
16g.50712073C>TCA395871156NOD2c.2081C>T (p.Ser694Phe)
c.2162C>T (p.Ser721Phe)
c.1658C>T (p.Ser553Phe)
c.1496C>T (p.Ser499Phe)
n.2171C>T
c.1589C>T (p.Ser530Phe)
n.2124C>T
n.2146C>T
 gnomAD v4
16g.50712074C>ACA495778997NOD2c.2082C>A (p.Ser694=)
c.2163C>A (p.Ser721=)
c.1659C>A (p.Ser553=)
c.1497C>A (p.Ser499=)
n.2172C>A
c.1590C>A (p.Ser530=)
n.2125C>A
n.2147C>A
16g.50712074C=CA2221862582NOD2c.2082C= (p.Ser694=)
c.2163C= (p.Ser721=)
c.1659C= (p.Ser553=)
c.1497C= (p.Ser499=)
n.2172C=
c.1590C= (p.Ser530=)
n.2125C=
n.2147C=
16g.50712074C>GCA495778998NOD2c.2082C>G (p.Ser694=)
c.2163C>G (p.Ser721=)
c.1659C>G (p.Ser553=)
c.1497C>G (p.Ser499=)
n.2172C>G
c.1590C>G (p.Ser530=)
n.2125C>G
n.2147C>G
16g.50712074C>TCA8051711NOD2c.2082C>T (p.Ser694=)
c.2163C>T (p.Ser721=)
c.1659C>T (p.Ser553=)
c.1497C>T (p.Ser499=)
n.2172C>T
c.1590C>T (p.Ser530=)
n.2125C>T
n.2147C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712075A>CCA395871163NOD2c.2083A>C (p.Ile695Leu)
c.2164A>C (p.Ile722Leu)
c.1660A>C (p.Ile554Leu)
c.1498A>C (p.Ile500Leu)
n.2173A>C
c.1591A>C (p.Ile531Leu)
n.2126A>C
n.2148A>C
16g.50712075A>GCA395871164NOD2c.2083A>G (p.Ile695Val)
c.2164A>G (p.Ile722Val)
c.1660A>G (p.Ile554Val)
c.1498A>G (p.Ile500Val)
n.2173A>G
c.1591A>G (p.Ile531Val)
n.2126A>G
n.2148A>G
16g.50712075A>TCA395871166NOD2c.2083A>T (p.Ile695Phe)
c.2164A>T (p.Ile722Phe)
c.1660A>T (p.Ile554Phe)
c.1498A>T (p.Ile500Phe)
n.2173A>T
c.1591A>T (p.Ile531Phe)
n.2126A>T
n.2148A>T
16g.50712076T>ACA395871168NOD2c.2084T>A (p.Ile695Asn)
c.2165T>A (p.Ile722Asn)
c.1661T>A (p.Ile554Asn)
c.1499T>A (p.Ile500Asn)
n.2174T>A
c.1592T>A (p.Ile531Asn)
n.2127T>A
n.2149T>A
16g.50712076T>CCA395871170NOD2c.2084T>C (p.Ile695Thr)
c.2165T>C (p.Ile722Thr)
c.1661T>C (p.Ile554Thr)
c.1499T>C (p.Ile500Thr)
n.2174T>C
c.1592T>C (p.Ile531Thr)
n.2127T>C
n.2149T>C
16g.50712076T>GCA395871172NOD2c.2084T>G (p.Ile695Ser)
c.2165T>G (p.Ile722Ser)
c.1661T>G (p.Ile554Ser)
c.1499T>G (p.Ile500Ser)
n.2174T>G
c.1592T>G (p.Ile531Ser)
n.2127T>G
n.2149T>G
16g.50712077C>ACA495778999NOD2c.2085C>A (p.Ile695=)
c.2166C>A (p.Ile722=)
c.1662C>A (p.Ile554=)
c.1500C>A (p.Ile500=)
n.2175C>A
c.1593C>A (p.Ile531=)
n.2128C>A
n.2150C>A
 dbSNP gnomAD v2 gnomAD v4
16g.50712077C=CA2221862586NOD2c.2085C= (p.Ile695=)
c.2166C= (p.Ile722=)
c.1662C= (p.Ile554=)
c.1500C= (p.Ile500=)
n.2175C=
c.1593C= (p.Ile531=)
n.2128C=
n.2150C=
16g.50712077C>GCA395871174NOD2c.2085C>G (p.Ile695Met)
c.2166C>G (p.Ile722Met)
c.1662C>G (p.Ile554Met)
c.1500C>G (p.Ile500Met)
n.2175C>G
c.1593C>G (p.Ile531Met)
n.2128C>G
n.2150C>G
16g.50712077C>TCA495779000NOD2c.2085C>T (p.Ile695=)
c.2166C>T (p.Ile722=)
c.1662C>T (p.Ile554=)
c.1500C>T (p.Ile500=)
n.2175C>T
c.1593C>T (p.Ile531=)
n.2128C>T
n.2150C>T
16g.50712078C>ACA395871176NOD2c.2086C>A (p.Pro696Thr)
c.2167C>A (p.Pro723Thr)
c.1663C>A (p.Pro555Thr)
c.1501C>A (p.Pro501Thr)
n.2176C>A
c.1594C>A (p.Pro532Thr)
n.2129C>A
n.2151C>A
16g.50712078C=CA2221862589NOD2c.2086C= (p.Pro696=)
c.2167C= (p.Pro723=)
c.1663C= (p.Pro555=)
c.1501C= (p.Pro501=)
n.2176C=
c.1594C= (p.Pro532=)
n.2129C=
n.2151C=
16g.50712078C>GCA395871178NOD2c.2086C>G (p.Pro696Ala)
c.2167C>G (p.Pro723Ala)
c.1663C>G (p.Pro555Ala)
c.1501C>G (p.Pro501Ala)
n.2176C>G
c.1594C>G (p.Pro532Ala)
n.2129C>G
n.2151C>G
16g.50712078C>TCA281263968NOD2c.2086C>T (p.Pro696Ser)
c.2167C>T (p.Pro723Ser)
c.1663C>T (p.Pro555Ser)
c.1501C>T (p.Pro501Ser)
n.2176C>T
c.1594C>T (p.Pro532Ser)
n.2129C>T
n.2151C>T
 dbSNP
16g.50712079C>ACA395871182NOD2c.2087C>A (p.Pro696Gln)
c.2168C>A (p.Pro723Gln)
c.1664C>A (p.Pro555Gln)
c.1502C>A (p.Pro501Gln)
n.2177C>A
c.1595C>A (p.Pro532Gln)
n.2130C>A
n.2152C>A
16g.50712079C=CA2221862592NOD2c.2087C= (p.Pro696=)
c.2168C= (p.Pro723=)
c.1664C= (p.Pro555=)
c.1502C= (p.Pro501=)
n.2177C=
c.1595C= (p.Pro532=)
n.2130C=
n.2152C=
16g.50712079C>GCA395871184NOD2c.2087C>G (p.Pro696Arg)
c.2168C>G (p.Pro723Arg)
c.1664C>G (p.Pro555Arg)
c.1502C>G (p.Pro501Arg)
n.2177C>G
c.1595C>G (p.Pro532Arg)
n.2130C>G
n.2152C>G
16g.50712079C>TCA8051712NOD2c.2087C>T (p.Pro696Leu)
c.2168C>T (p.Pro723Leu)
c.1664C>T (p.Pro555Leu)
c.1502C>T (p.Pro501Leu)
n.2177C>T
c.1595C>T (p.Pro532Leu)
n.2130C>T
n.2152C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712080G>ACA281263972NOD2c.2088G>A (p.Pro696=)
c.2169G>A (p.Pro723=)
c.1665G>A (p.Pro555=)
c.1503G>A (p.Pro501=)
n.2178G>A
c.1596G>A (p.Pro532=)
n.2131G>A
n.2153G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.50712080G>CCA495779001NOD2c.2088G>C (p.Pro696=)
c.2169G>C (p.Pro723=)
c.1665G>C (p.Pro555=)
c.1503G>C (p.Pro501=)
n.2178G>C
c.1596G>C (p.Pro532=)
n.2131G>C
n.2153G>C
16g.50712080G=CA2221862595NOD2c.2088G= (p.Pro696=)
c.2169G= (p.Pro723=)
c.1665G= (p.Pro555=)
c.1503G= (p.Pro501=)
n.2178G=
c.1596G= (p.Pro532=)
n.2131G=
n.2153G=
16g.50712080G>TCA8051713NOD2c.2088G>T (p.Pro696=)
c.2169G>T (p.Pro723=)
c.1665G>T (p.Pro555=)
c.1503G>T (p.Pro501=)
n.2178G>T
c.1596G>T (p.Pro532=)
n.2131G>T
n.2153G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712081C>ACA395871188NOD2c.2089C>A (p.Pro697Thr)
c.2170C>A (p.Pro724Thr)
c.1666C>A (p.Pro556Thr)
c.1504C>A (p.Pro502Thr)
n.2179C>A
c.1597C>A (p.Pro533Thr)
n.2132C>A
n.2154C>A
16g.50712081C>GCA395871189NOD2c.2089C>G (p.Pro697Ala)
c.2170C>G (p.Pro724Ala)
c.1666C>G (p.Pro556Ala)
c.1504C>G (p.Pro502Ala)
n.2179C>G
c.1597C>G (p.Pro533Ala)
n.2132C>G
n.2154C>G
16g.50712081C>TCA395871191NOD2c.2089C>T (p.Pro697Ser)
c.2170C>T (p.Pro724Ser)
c.1666C>T (p.Pro556Ser)
c.1504C>T (p.Pro502Ser)
n.2179C>T
c.1597C>T (p.Pro533Ser)
n.2132C>T
n.2154C>T
16g.50712082C>ACA395871193NOD2c.2090C>A (p.Pro697Gln)
c.2171C>A (p.Pro724Gln)
c.1667C>A (p.Pro556Gln)
c.1505C>A (p.Pro502Gln)
n.2180C>A
c.1598C>A (p.Pro533Gln)
n.2133C>A
n.2155C>A
 gnomAD v4
16g.50712082C=CA2221862598NOD2c.2090C= (p.Pro697=)
c.2171C= (p.Pro724=)
c.1667C= (p.Pro556=)
c.1505C= (p.Pro502=)
n.2180C=
c.1598C= (p.Pro533=)
n.2133C=
n.2155C=
16g.50712082C>GCA395871194NOD2c.2090C>G (p.Pro697Arg)
c.2171C>G (p.Pro724Arg)
c.1667C>G (p.Pro556Arg)
c.1505C>G (p.Pro502Arg)
n.2180C>G
c.1598C>G (p.Pro533Arg)
n.2133C>G
n.2155C>G
16g.50712082C>TCA395871195NOD2c.2090C>T (p.Pro697Leu)
c.2171C>T (p.Pro724Leu)
c.1667C>T (p.Pro556Leu)
c.1505C>T (p.Pro502Leu)
n.2180C>T
c.1598C>T (p.Pro533Leu)
n.2133C>T
n.2155C>T
 dbSNP gnomAD v4
16g.50712083A=CA2221862600NOD2c.2091A= (p.Pro697=)
c.2172A= (p.Pro724=)
c.1668A= (p.Pro556=)
c.1506A= (p.Pro502=)
n.2181A=
c.1599A= (p.Pro533=)
n.2134A=
n.2156A=
16g.50712083A>CCA495779002NOD2c.2091A>C (p.Pro697=)
c.2172A>C (p.Pro724=)
c.1668A>C (p.Pro556=)
c.1506A>C (p.Pro502=)
n.2181A>C
c.1599A>C (p.Pro533=)
n.2134A>C
n.2156A>C
 gnomAD v4 COSMIC
16g.50712083A>GCA495779003NOD2c.2091A>G (p.Pro697=)
c.2172A>G (p.Pro724=)
c.1668A>G (p.Pro556=)
c.1506A>G (p.Pro502=)
n.2181A>G
c.1599A>G (p.Pro533=)
n.2134A>G
n.2156A>G
 dbSNP gnomAD v2
16g.50712083A>TCA495779004NOD2c.2091A>T (p.Pro697=)
c.2172A>T (p.Pro724=)
c.1668A>T (p.Pro556=)
c.1506A>T (p.Pro502=)
n.2181A>T
c.1599A>T (p.Pro533=)
n.2134A>T
n.2156A>T
16g.50712084G>ACA395871196NOD2c.2092G>A (p.Ala698Thr)
c.2173G>A (p.Ala725Thr)
c.1669G>A (p.Ala557Thr)
c.1507G>A (p.Ala503Thr)
n.2182G>A
c.1600G>A (p.Ala534Thr)
n.2135G>A
n.2157G>A
16g.50712084G>CCA395871198NOD2c.2092G>C (p.Ala698Pro)
c.2173G>C (p.Ala725Pro)
c.1669G>C (p.Ala557Pro)
c.1507G>C (p.Ala503Pro)
n.2182G>C
c.1600G>C (p.Ala534Pro)
n.2135G>C
n.2157G>C
 gnomAD v4
16g.50712084G>TCA395871200NOD2c.2092G>T (p.Ala698Ser)
c.2173G>T (p.Ala725Ser)
c.1669G>T (p.Ala557Ser)
c.1507G>T (p.Ala503Ser)
n.2182G>T
c.1600G>T (p.Ala534Ser)
n.2135G>T
n.2157G>T
16g.50712085C>ACA395871202NOD2c.2093C>A (p.Ala698Asp)
c.2174C>A (p.Ala725Asp)
c.1670C>A (p.Ala557Asp)
c.1508C>A (p.Ala503Asp)
n.2183C>A
c.1601C>A (p.Ala534Asp)
n.2136C>A
n.2158C>A
16g.50712085C=CA2221862606NOD2c.2093C= (p.Ala698=)
c.2174C= (p.Ala725=)
c.1670C= (p.Ala557=)
c.1508C= (p.Ala503=)
n.2183C=
c.1601C= (p.Ala534=)
n.2136C=
n.2158C=
16g.50712085C>GCA8051714NOD2c.2093C>G (p.Ala698Gly)
c.2174C>G (p.Ala725Gly)
c.1670C>G (p.Ala557Gly)
c.1508C>G (p.Ala503Gly)
n.2183C>G
c.1601C>G (p.Ala534Gly)
n.2136C>G
n.2158C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712085C>TCA395871205NOD2c.2093C>T (p.Ala698Val)
c.2174C>T (p.Ala725Val)
c.1670C>T (p.Ala557Val)
c.1508C>T (p.Ala503Val)
n.2183C>T
c.1601C>T (p.Ala534Val)
n.2136C>T
n.2158C>T
16g.50712086T>ACA495779005NOD2c.2094T>A (p.Ala698=)
c.2175T>A (p.Ala725=)
c.1671T>A (p.Ala557=)
c.1509T>A (p.Ala503=)
n.2184T>A
c.1602T>A (p.Ala534=)
n.2137T>A
n.2159T>A
16g.50712086T>CCA495779006NOD2c.2094T>C (p.Ala698=)
c.2175T>C (p.Ala725=)
c.1671T>C (p.Ala557=)
c.1509T>C (p.Ala503=)
n.2184T>C
c.1602T>C (p.Ala534=)
n.2137T>C
n.2159T>C
16g.50712086T>GCA495779007NOD2c.2094T>G (p.Ala698=)
c.2175T>G (p.Ala725=)
c.1671T>G (p.Ala557=)
c.1509T>G (p.Ala503=)
n.2184T>G
c.1602T>G (p.Ala534=)
n.2137T>G
n.2159T>G
16g.50712087G>ACA395871211NOD2c.2095G>A (p.Ala699Thr)
c.2176G>A (p.Ala726Thr)
c.1672G>A (p.Ala558Thr)
c.1510G>A (p.Ala504Thr)
n.2185G>A
c.1603G>A (p.Ala535Thr)
n.2138G>A
n.2160G>A
16g.50712087G>CCA395871210NOD2c.2095G>C (p.Ala699Pro)
c.2176G>C (p.Ala726Pro)
c.1672G>C (p.Ala558Pro)
c.1510G>C (p.Ala504Pro)
n.2185G>C
c.1603G>C (p.Ala535Pro)
n.2138G>C
n.2160G>C
16g.50712087G>TCA395871208NOD2c.2095G>T (p.Ala699Ser)
c.2176G>T (p.Ala726Ser)
c.1672G>T (p.Ala558Ser)
c.1510G>T (p.Ala504Ser)
n.2185G>T
c.1603G>T (p.Ala535Ser)
n.2138G>T
n.2160G>T
16g.50712088C>ACA395871214NOD2c.2096C>A (p.Ala699Glu)
c.2177C>A (p.Ala726Glu)
c.1673C>A (p.Ala558Glu)
c.1511C>A (p.Ala504Glu)
n.2186C>A
c.1604C>A (p.Ala535Glu)
n.2139C>A
n.2161C>A
16g.50712088C=CA2221862609NOD2c.2096C= (p.Ala699=)
c.2177C= (p.Ala726=)
c.1673C= (p.Ala558=)
c.1511C= (p.Ala504=)
n.2186C=
c.1604C= (p.Ala535=)
n.2139C=
n.2161C=
16g.50712088C>GCA395871216NOD2c.2096C>G (p.Ala699Gly)
c.2177C>G (p.Ala726Gly)
c.1673C>G (p.Ala558Gly)
c.1511C>G (p.Ala504Gly)
n.2186C>G
c.1604C>G (p.Ala535Gly)
n.2139C>G
n.2161C>G
16g.50712088C>TCA395871218NOD2c.2096C>T (p.Ala699Val)
c.2177C>T (p.Ala726Val)
c.1673C>T (p.Ala558Val)
c.1511C>T (p.Ala504Val)
n.2186C>T
c.1604C>T (p.Ala535Val)
n.2139C>T
n.2161C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.50712089A>CCA495779010NOD2c.2097A>C (p.Ala699=)
c.2178A>C (p.Ala726=)
c.1674A>C (p.Ala558=)
c.1512A>C (p.Ala504=)
n.2187A>C
c.1605A>C (p.Ala535=)
n.2140A>C
n.2162A>C
16g.50712089A>GCA495779009NOD2c.2097A>G (p.Ala699=)
c.2178A>G (p.Ala726=)
c.1674A>G (p.Ala558=)
c.1512A>G (p.Ala504=)
n.2187A>G
c.1605A>G (p.Ala535=)
n.2140A>G
n.2162A>G
 gnomAD v4
16g.50712089A>TCA495779008NOD2c.2097A>T (p.Ala699=)
c.2178A>T (p.Ala726=)
c.1674A>T (p.Ala558=)
c.1512A>T (p.Ala504=)
n.2187A>T
c.1605A>T (p.Ala535=)
n.2140A>T
n.2162A>T
16g.50712090C>ACA395871220NOD2c.2098C>A (p.Pro700Thr)
c.2179C>A (p.Pro727Thr)
c.1675C>A (p.Pro559Thr)
c.1513C>A (p.Pro505Thr)
n.2188C>A
c.1606C>A (p.Pro536Thr)
n.2141C>A
n.2163C>A
16g.50712090C=CA2221862615NOD2c.2098C= (p.Pro700=)
c.2179C= (p.Pro727=)
c.1675C= (p.Pro559=)
c.1513C= (p.Pro505=)
n.2188C=
c.1606C= (p.Pro536=)
n.2141C=
n.2163C=
16g.50712090C>GCA395871221NOD2c.2098C>G (p.Pro700Ala)
c.2179C>G (p.Pro727Ala)
c.1675C>G (p.Pro559Ala)
c.1513C>G (p.Pro505Ala)
n.2188C>G
c.1606C>G (p.Pro536Ala)
n.2141C>G
n.2163C>G
 dbSNP gnomAD v2 gnomAD v4
16g.50712090C>TCA395871223NOD2c.2098C>T (p.Pro700Ser)
c.2179C>T (p.Pro727Ser)
c.1675C>T (p.Pro559Ser)
c.1513C>T (p.Pro505Ser)
n.2188C>T
c.1606C>T (p.Pro536Ser)
n.2141C>T
n.2163C>T
 ClinVar dbSNP gnomAD v4
16g.50712091C>ACA395871225NOD2c.2099C>A (p.Pro700Gln)
c.2180C>A (p.Pro727Gln)
c.1676C>A (p.Pro559Gln)
c.1514C>A (p.Pro505Gln)
n.2189C>A
c.1607C>A (p.Pro536Gln)
n.2142C>A
n.2164C>A
 ClinVar gnomAD v4
16g.50712091C=CA2221862622NOD2c.2099C= (p.Pro700=)
c.2180C= (p.Pro727=)
c.1676C= (p.Pro559=)
c.1514C= (p.Pro505=)
n.2189C=
c.1607C= (p.Pro536=)
n.2142C=
n.2164C=
16g.50712091C>GCA395871227NOD2c.2099C>G (p.Pro700Arg)
c.2180C>G (p.Pro727Arg)
c.1676C>G (p.Pro559Arg)
c.1514C>G (p.Pro505Arg)
n.2189C>G
c.1607C>G (p.Pro536Arg)
n.2142C>G
n.2164C>G
16g.50712091C>TCA150247NOD2c.2099C>T (p.Pro700Leu)
c.2180C>T (p.Pro727Leu)
c.1676C>T (p.Pro559Leu)
c.1514C>T (p.Pro505Leu)
n.2189C>T
c.1607C>T (p.Pro536Leu)
n.2142C>T
n.2164C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.50712092G>ACA8051715NOD2c.2100G>A (p.Pro700=)
c.2181G>A (p.Pro727=)
c.1677G>A (p.Pro559=)
c.1515G>A (p.Pro505=)
n.2190G>A
c.1608G>A (p.Pro536=)
n.2143G>A
n.2165G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712092G>CCA8051716NOD2c.2100G>C (p.Pro700=)
c.2181G>C (p.Pro727=)
c.1677G>C (p.Pro559=)
c.1515G>C (p.Pro505=)
n.2190G>C
c.1608G>C (p.Pro536=)
n.2143G>C
n.2165G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712092G=CA2221862625NOD2c.2100G= (p.Pro700=)
c.2181G= (p.Pro727=)
c.1677G= (p.Pro559=)
c.1515G= (p.Pro505=)
n.2190G=
c.1608G= (p.Pro536=)
n.2143G=
n.2165G=
16g.50712092G>TCA495779011NOD2c.2100G>T (p.Pro700=)
c.2181G>T (p.Pro727=)
c.1677G>T (p.Pro559=)
c.1515G>T (p.Pro505=)
n.2190G>T
c.1608G>T (p.Pro536=)
n.2143G>T
n.2165G>T
16g.50712093G>ACA395871232NOD2c.2101G>A (p.Gly701Ser)
c.2182G>A (p.Gly728Ser)
c.1678G>A (p.Gly560Ser)
c.1516G>A (p.Gly506Ser)
n.2191G>A
c.1609G>A (p.Gly537Ser)
n.2144G>A
n.2166G>A
 ClinVar dbSNP gnomAD v4
16g.50712093G>CCA395871234NOD2c.2101G>C (p.Gly701Arg)
c.2182G>C (p.Gly728Arg)
c.1678G>C (p.Gly560Arg)
c.1516G>C (p.Gly506Arg)
n.2191G>C
c.1609G>C (p.Gly537Arg)
n.2144G>C
n.2166G>C
16g.50712093G=CA2221862631NOD2c.2101G= (p.Gly701=)
c.2182G= (p.Gly728=)
c.1678G= (p.Gly560=)
c.1516G= (p.Gly506=)
n.2191G=
c.1609G= (p.Gly537=)
n.2144G=
n.2166G=
16g.50712093G>TCA395871236NOD2c.2101G>T (p.Gly701Cys)
c.2182G>T (p.Gly728Cys)
c.1678G>T (p.Gly560Cys)
c.1516G>T (p.Gly506Cys)
n.2191G>T
c.1609G>T (p.Gly537Cys)
n.2144G>T
n.2166G>T
 dbSNP
16g.50712094G>ACA395871242NOD2c.2102G>A (p.Gly701Asp)
c.2183G>A (p.Gly728Asp)
c.1679G>A (p.Gly560Asp)
c.1517G>A (p.Gly506Asp)
n.2192G>A
c.1610G>A (p.Gly537Asp)
n.2145G>A
n.2167G>A
16g.50712094G>CCA395871241NOD2c.2102G>C (p.Gly701Ala)
c.2183G>C (p.Gly728Ala)
c.1679G>C (p.Gly560Ala)
c.1517G>C (p.Gly506Ala)
n.2192G>C
c.1610G>C (p.Gly537Ala)
n.2145G>C
n.2167G>C
 dbSNP gnomAD v4
16g.50712094G=CA2221862635NOD2c.2102G= (p.Gly701=)
c.2183G= (p.Gly728=)
c.1679G= (p.Gly560=)
c.1517G= (p.Gly506=)
n.2192G=
c.1610G= (p.Gly537=)
n.2145G=
n.2167G=
16g.50712094G>TCA395871240NOD2c.2102G>T (p.Gly701Val)
c.2183G>T (p.Gly728Val)
c.1679G>T (p.Gly560Val)
c.1517G>T (p.Gly506Val)
n.2192G>T
c.1610G>T (p.Gly537Val)
n.2145G>T
n.2167G>T
 dbSNP gnomAD v2 gnomAD v4
16g.50712095T>ACA495779012NOD2c.2103T>A (p.Gly701=)
c.2184T>A (p.Gly728=)
c.1680T>A (p.Gly560=)
c.1518T>A (p.Gly506=)
n.2193T>A
c.1611T>A (p.Gly537=)
n.2146T>A
n.2168T>A
16g.50712095T>CCA495779014NOD2c.2103T>C (p.Gly701=)
c.2184T>C (p.Gly728=)
c.1680T>C (p.Gly560=)
c.1518T>C (p.Gly506=)
n.2193T>C
c.1611T>C (p.Gly537=)
n.2146T>C
n.2168T>C
 COSMIC
16g.50712095T>GCA495779013NOD2c.2103T>G (p.Gly701=)
c.2184T>G (p.Gly728=)
c.1680T>G (p.Gly560=)
c.1518T>G (p.Gly506=)
n.2193T>G
c.1611T>G (p.Gly537=)
n.2146T>G
n.2168T>G
16g.50712096G>ACA395871245NOD2c.2104G>A (p.Glu702Lys)
c.2185G>A (p.Glu729Lys)
c.1681G>A (p.Glu561Lys)
c.1519G>A (p.Glu507Lys)
n.2194G>A
c.1612G>A (p.Glu538Lys)
n.2147G>A
n.2169G>A
 dbSNP gnomAD v4
16g.50712096G>CCA395871247NOD2c.2104G>C (p.Glu702Gln)
c.2185G>C (p.Glu729Gln)
c.1681G>C (p.Glu561Gln)
c.1519G>C (p.Glu507Gln)
n.2194G>C
c.1612G>C (p.Glu538Gln)
n.2147G>C
n.2169G>C
16g.50712096G=CA2221862637NOD2c.2104G= (p.Glu702=)
c.2185G= (p.Glu729=)
c.1681G= (p.Glu561=)
c.1519G= (p.Glu507=)
n.2194G=
c.1612G= (p.Glu538=)
n.2147G=
n.2169G=
16g.50712096G>TCA395871249NOD2c.2104G>T (p.Glu702Ter)
c.2185G>T (p.Glu729Ter)
c.1681G>T (p.Glu561Ter)
c.1519G>T (p.Glu507Ter)
n.2194G>T
c.1612G>T (p.Glu538Ter)
n.2147G>T
n.2169G>T
16g.50712097A>CCA395871251NOD2c.2105A>C (p.Glu702Ala)
c.2186A>C (p.Glu729Ala)
c.1682A>C (p.Glu561Ala)
c.1520A>C (p.Glu507Ala)
n.2195A>C
c.1613A>C (p.Glu538Ala)
n.2148A>C
n.2170A>C
16g.50712097A>GCA395871253NOD2c.2105A>G (p.Glu702Gly)
c.2186A>G (p.Glu729Gly)
c.1682A>G (p.Glu561Gly)
c.1520A>G (p.Glu507Gly)
n.2195A>G
c.1613A>G (p.Glu538Gly)
n.2148A>G
n.2170A>G
16g.50712097A>TCA395871254NOD2c.2105A>T (p.Glu702Val)
c.2186A>T (p.Glu729Val)
c.1682A>T (p.Glu561Val)
c.1520A>T (p.Glu507Val)
n.2195A>T
c.1613A>T (p.Glu538Val)
n.2148A>T
n.2170A>T
16g.50712098G>ACA495779015NOD2c.2106G>A (p.Glu702=)
c.2187G>A (p.Glu729=)
c.1683G>A (p.Glu561=)
c.1521G>A (p.Glu507=)
n.2196G>A
c.1614G>A (p.Glu538=)
n.2149G>A
n.2171G>A
 ClinVar
16g.50712098G>CCA395871256NOD2c.2106G>C (p.Glu702Asp)
c.2187G>C (p.Glu729Asp)
c.1683G>C (p.Glu561Asp)
c.1521G>C (p.Glu507Asp)
n.2196G>C
c.1614G>C (p.Glu538Asp)
n.2149G>C
n.2171G>C
16g.50712098G>TCA395871258NOD2c.2106G>T (p.Glu702Asp)
c.2187G>T (p.Glu729Asp)
c.1683G>T (p.Glu561Asp)
c.1521G>T (p.Glu507Asp)
n.2196G>T
c.1614G>T (p.Glu538Asp)
n.2149G>T
n.2171G>T
 ClinVar gnomAD v4
16g.50712099G>ACA395871260NOD2c.2107G>A (p.Ala703Thr)
c.2188G>A (p.Ala730Thr)
c.1684G>A (p.Ala562Thr)
c.1522G>A (p.Ala508Thr)
n.2197G>A
c.1615G>A (p.Ala539Thr)
n.2150G>A
n.2172G>A
16g.50712099G>CCA395871261NOD2c.2107G>C (p.Ala703Pro)
c.2188G>C (p.Ala730Pro)
c.1684G>C (p.Ala562Pro)
c.1522G>C (p.Ala508Pro)
n.2197G>C
c.1615G>C (p.Ala539Pro)
n.2150G>C
n.2172G>C
16g.50712099G>TCA395871263NOD2c.2107G>T (p.Ala703Ser)
c.2188G>T (p.Ala730Ser)
c.1684G>T (p.Ala562Ser)
c.1522G>T (p.Ala508Ser)
n.2197G>T
c.1615G>T (p.Ala539Ser)
n.2150G>T
n.2172G>T
16g.50712100C>ACA395871265NOD2c.2108C>A (p.Ala703Asp)
c.2189C>A (p.Ala730Asp)
c.1685C>A (p.Ala562Asp)
c.1523C>A (p.Ala508Asp)
n.2198C>A
c.1616C>A (p.Ala539Asp)
n.2151C>A
n.2173C>A
16g.50712100C=CA2221862639NOD2c.2108C= (p.Ala703=)
c.2189C= (p.Ala730=)
c.1685C= (p.Ala562=)
c.1523C= (p.Ala508=)
n.2198C=
c.1616C= (p.Ala539=)
n.2151C=
n.2173C=
16g.50712100C>GCA395871267NOD2c.2108C>G (p.Ala703Gly)
c.2189C>G (p.Ala730Gly)
c.1685C>G (p.Ala562Gly)
c.1523C>G (p.Ala508Gly)
n.2198C>G
c.1616C>G (p.Ala539Gly)
n.2151C>G
n.2173C>G
16g.50712100C>TCA8051717NOD2c.2108C>T (p.Ala703Val)
c.2189C>T (p.Ala730Val)
c.1685C>T (p.Ala562Val)
c.1523C>T (p.Ala508Val)
n.2198C>T
c.1616C>T (p.Ala539Val)
n.2151C>T
n.2173C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712101C>ACA495779016NOD2c.2109C>A (p.Ala703=)
c.2190C>A (p.Ala730=)
c.1686C>A (p.Ala562=)
c.1524C>A (p.Ala508=)
n.2199C>A
c.1617C>A (p.Ala539=)
n.2152C>A
n.2174C>A
16g.50712101C>GCA495779017NOD2c.2109C>G (p.Ala703=)
c.2190C>G (p.Ala730=)
c.1686C>G (p.Ala562=)
c.1524C>G (p.Ala508=)
n.2199C>G
c.1617C>G (p.Ala539=)
n.2152C>G
n.2174C>G
16g.50712101C>TCA495779018NOD2c.2109C>T (p.Ala703=)
c.2190C>T (p.Ala730=)
c.1686C>T (p.Ala562=)
c.1524C>T (p.Ala508=)
n.2199C>T
c.1617C>T (p.Ala539=)
n.2152C>T
n.2174C>T
16g.50712102A>CCA395871272NOD2c.2110A>C (p.Lys704Gln)
c.2191A>C (p.Lys731Gln)
c.1687A>C (p.Lys563Gln)
c.1525A>C (p.Lys509Gln)
n.2200A>C
c.1618A>C (p.Lys540Gln)
n.2153A>C
n.2175A>C
16g.50712102A>GCA395871274NOD2c.2110A>G (p.Lys704Glu)
c.2191A>G (p.Lys731Glu)
c.1687A>G (p.Lys563Glu)
c.1525A>G (p.Lys509Glu)
n.2200A>G
c.1618A>G (p.Lys540Glu)
n.2153A>G
n.2175A>G
16g.50712102A>TCA395871270NOD2c.2110A>T (p.Lys704Ter)
c.2191A>T (p.Lys731Ter)
c.1687A>T (p.Lys563Ter)
c.1525A>T (p.Lys509Ter)
n.2200A>T
c.1618A>T (p.Lys540Ter)
n.2153A>T
n.2175A>T
16g.50712103A>CCA395871276NOD2c.2111A>C (p.Lys704Thr)
c.2192A>C (p.Lys731Thr)
c.1688A>C (p.Lys563Thr)
c.1526A>C (p.Lys509Thr)
n.2201A>C
c.1619A>C (p.Lys540Thr)
n.2154A>C
n.2176A>C
16g.50712103A>GCA395871278NOD2c.2111A>G (p.Lys704Arg)
c.2192A>G (p.Lys731Arg)
c.1688A>G (p.Lys563Arg)
c.1526A>G (p.Lys509Arg)
n.2201A>G
c.1619A>G (p.Lys540Arg)
n.2154A>G
n.2176A>G
 COSMIC
16g.50712103A>TCA395871280NOD2c.2111A>T (p.Lys704Met)
c.2192A>T (p.Lys731Met)
c.1688A>T (p.Lys563Met)
c.1526A>T (p.Lys509Met)
n.2201A>T
c.1619A>T (p.Lys540Met)
n.2154A>T
n.2176A>T
16g.50712104G>ACA495779019NOD2c.2112G>A (p.Lys704=)
c.2193G>A (p.Lys731=)
c.1689G>A (p.Lys563=)
c.1527G>A (p.Lys509=)
n.2202G>A
c.1620G>A (p.Lys540=)
n.2155G>A
n.2177G>A
 ClinVar dbSNP
16g.50712104G>CCA395871283NOD2c.2112G>C (p.Lys704Asn)
c.2193G>C (p.Lys731Asn)
c.1689G>C (p.Lys563Asn)
c.1527G>C (p.Lys509Asn)
n.2202G>C
c.1620G>C (p.Lys540Asn)
n.2155G>C
n.2177G>C
16g.50712104G>TCA395871284NOD2c.2112G>T (p.Lys704Asn)
c.2193G>T (p.Lys731Asn)
c.1689G>T (p.Lys563Asn)
c.1527G>T (p.Lys509Asn)
n.2202G>T
c.1620G>T (p.Lys540Asn)
n.2155G>T
n.2177G>T
16g.50712105A>CCA395871290NOD2c.2113A>C (p.Ser705Arg)
c.2194A>C (p.Ser732Arg)
c.1690A>C (p.Ser564Arg)
c.1528A>C (p.Ser510Arg)
n.2203A>C
c.1621A>C (p.Ser541Arg)
n.2156A>C
n.2178A>C
16g.50712105A>GCA395871288NOD2c.2113A>G (p.Ser705Gly)
c.2194A>G (p.Ser732Gly)
c.1690A>G (p.Ser564Gly)
c.1528A>G (p.Ser510Gly)
n.2203A>G
c.1621A>G (p.Ser541Gly)
n.2156A>G
n.2178A>G
 gnomAD v4
16g.50712105A>TCA395871286NOD2c.2113A>T (p.Ser705Cys)
c.2194A>T (p.Ser732Cys)
c.1690A>T (p.Ser564Cys)
c.1528A>T (p.Ser510Cys)
n.2203A>T
c.1621A>T (p.Ser541Cys)
n.2156A>T
n.2178A>T
16g.50712106G>ACA8051718NOD2c.2114G>A (p.Ser705Asn)
c.2195G>A (p.Ser732Asn)
c.1691G>A (p.Ser564Asn)
c.1529G>A (p.Ser510Asn)
n.2204G>A
c.1622G>A (p.Ser541Asn)
n.2157G>A
n.2179G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712106G>CCA395871293NOD2c.2114G>C (p.Ser705Thr)
c.2195G>C (p.Ser732Thr)
c.1691G>C (p.Ser564Thr)
c.1529G>C (p.Ser510Thr)
n.2204G>C
c.1622G>C (p.Ser541Thr)
n.2157G>C
n.2179G>C
 gnomAD v4
16g.50712106G=CA2221862642NOD2c.2114G= (p.Ser705=)
c.2195G= (p.Ser732=)
c.1691G= (p.Ser564=)
c.1529G= (p.Ser510=)
n.2204G=
c.1622G= (p.Ser541=)
n.2157G=
n.2179G=
16g.50712106G>TCA395871295NOD2c.2114G>T (p.Ser705Ile)
c.2195G>T (p.Ser732Ile)
c.1691G>T (p.Ser564Ile)
c.1529G>T (p.Ser510Ile)
n.2204G>T
c.1622G>T (p.Ser541Ile)
n.2157G>T
n.2179G>T
16g.50712107C>ACA281264025NOD2c.2115C>A (p.Ser705Arg)
c.2196C>A (p.Ser732Arg)
c.1692C>A (p.Ser564Arg)
c.1530C>A (p.Ser510Arg)
n.2205C>A
c.1623C>A (p.Ser541Arg)
n.2158C>A
n.2180C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.50712107C=CA2221862646NOD2c.2115C= (p.Ser705=)
c.2196C= (p.Ser732=)
c.1692C= (p.Ser564=)
c.1530C= (p.Ser510=)
n.2205C=
c.1623C= (p.Ser541=)
n.2158C=
n.2180C=
16g.50712107C>GCA395871298NOD2c.2115C>G (p.Ser705Arg)
c.2196C>G (p.Ser732Arg)
c.1692C>G (p.Ser564Arg)
c.1530C>G (p.Ser510Arg)
n.2205C>G
c.1623C>G (p.Ser541Arg)
n.2158C>G
n.2180C>G
16g.50712107C>TCA8051719NOD2c.2115C>T (p.Ser705=)
c.2196C>T (p.Ser732=)
c.1692C>T (p.Ser564=)
c.1530C>T (p.Ser510=)
n.2205C>T
c.1623C>T (p.Ser541=)
n.2158C>T
n.2180C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712108G>ACA8051720NOD2c.2116G>A (p.Val706Met)
c.2197G>A (p.Val733Met)
c.1693G>A (p.Val565Met)
c.1531G>A (p.Val511Met)
n.2206G>A
c.1624G>A (p.Val542Met)
n.2159G>A
n.2181G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.50712108G>CCA395871303NOD2c.2116G>C (p.Val706Leu)
c.2197G>C (p.Val733Leu)
c.1693G>C (p.Val565Leu)
c.1531G>C (p.Val511Leu)
n.2206G>C
c.1624G>C (p.Val542Leu)
n.2159G>C
n.2181G>C
16g.50712108G=CA2221862651NOD2c.2116G= (p.Val706=)
c.2197G= (p.Val733=)
c.1693G= (p.Val565=)
c.1531G= (p.Val511=)
n.2206G=
c.1624G= (p.Val542=)
n.2159G=
n.2181G=
16g.50712108G>TCA10590111NOD2c.2116G>T (p.Val706Leu)
c.2197G>T (p.Val733Leu)
c.1693G>T (p.Val565Leu)
c.1531G>T (p.Val511Leu)
n.2206G>T
c.1624G>T (p.Val542Leu)
n.2159G>T
n.2181G>T
 ClinVar dbSNP
16g.50712109T>ACA395871304NOD2c.2117T>A (p.Val706Glu)
c.2198T>A (p.Val733Glu)
c.1694T>A (p.Val565Glu)
c.1532T>A (p.Val511Glu)
n.2207T>A
c.1625T>A (p.Val542Glu)
n.2160T>A
n.2182T>A
16g.50712109T>CCA395871305NOD2c.2117T>C (p.Val706Ala)
c.2198T>C (p.Val733Ala)
c.1694T>C (p.Val565Ala)
c.1532T>C (p.Val511Ala)
n.2207T>C
c.1625T>C (p.Val542Ala)
n.2160T>C
n.2182T>C
 gnomAD v4
16g.50712109T>GCA395871307NOD2c.2117T>G (p.Val706Gly)
c.2198T>G (p.Val733Gly)
c.1694T>G (p.Val565Gly)
c.1532T>G (p.Val511Gly)
n.2207T>G
c.1625T>G (p.Val542Gly)
n.2160T>G
n.2182T>G
16g.50712110G>ACA495779022NOD2c.2118G>A (p.Val706=)
c.2199G>A (p.Val733=)
c.1695G>A (p.Val565=)
c.1533G>A (p.Val511=)
n.2208G>A
c.1626G>A (p.Val542=)
n.2161G>A
n.2183G>A
16g.50712110G>CCA495779021NOD2c.2118G>C (p.Val706=)
c.2199G>C (p.Val733=)
c.1695G>C (p.Val565=)
c.1533G>C (p.Val511=)
n.2208G>C
c.1626G>C (p.Val542=)
n.2161G>C
n.2183G>C
16g.50712110G>TCA495779020NOD2c.2118G>T (p.Val706=)
c.2199G>T (p.Val733=)
c.1695G>T (p.Val565=)
c.1533G>T (p.Val511=)
n.2208G>T
c.1626G>T (p.Val542=)
n.2161G>T
n.2183G>T
16g.50712111C>ACA395871308NOD2c.2119C>A (p.His707Asn)
c.2200C>A (p.His734Asn)
c.1696C>A (p.His566Asn)
c.1534C>A (p.His512Asn)
n.2209C>A
c.1627C>A (p.His543Asn)
n.2162C>A
n.2184C>A
16g.50712111C>GCA395871309NOD2c.2119C>G (p.His707Asp)
c.2200C>G (p.His734Asp)
c.1696C>G (p.His566Asp)
c.1534C>G (p.His512Asp)
n.2209C>G
c.1627C>G (p.His543Asp)
n.2162C>G
n.2184C>G
16g.50712111C>TCA395871311NOD2c.2119C>T (p.His707Tyr)
c.2200C>T (p.His734Tyr)
c.1696C>T (p.His566Tyr)
c.1534C>T (p.His512Tyr)
n.2209C>T
c.1627C>T (p.His543Tyr)
n.2162C>T
n.2184C>T
 ClinVar
16g.50712112A=CA2221862656NOD2c.2120A= (p.His707=)
c.2201A= (p.His734=)
c.1697A= (p.His566=)
c.1535A= (p.His512=)
n.2210A=
c.1628A= (p.His543=)
n.2163A=
n.2185A=
16g.50712112A>CCA8051721NOD2c.2120A>C (p.His707Pro)
c.2201A>C (p.His734Pro)
c.1697A>C (p.His566Pro)
c.1535A>C (p.His512Pro)
n.2210A>C
c.1628A>C (p.His543Pro)
n.2163A>C
n.2185A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712112A>GCA395871314NOD2c.2120A>G (p.His707Arg)
c.2201A>G (p.His734Arg)
c.1697A>G (p.His566Arg)
c.1535A>G (p.His512Arg)
n.2210A>G
c.1628A>G (p.His543Arg)
n.2163A>G
n.2185A>G
16g.50712112A>TCA395871316NOD2c.2120A>T (p.His707Leu)
c.2201A>T (p.His734Leu)
c.1697A>T (p.His566Leu)
c.1535A>T (p.His512Leu)
n.2210A>T
c.1628A>T (p.His543Leu)
n.2163A>T
n.2185A>T
16g.50712113T>ACA395871318NOD2c.2121T>A (p.His707Gln)
c.2202T>A (p.His734Gln)
c.1698T>A (p.His566Gln)
c.1536T>A (p.His512Gln)
n.2211T>A
c.1629T>A (p.His543Gln)
n.2164T>A
n.2186T>A
16g.50712113T>CCA495779023NOD2c.2121T>C (p.His707=)
c.2202T>C (p.His734=)
c.1698T>C (p.His566=)
c.1536T>C (p.His512=)
n.2211T>C
c.1629T>C (p.His543=)
n.2164T>C
n.2186T>C
16g.50712113T>GCA395871320NOD2c.2121T>G (p.His707Gln)
c.2202T>G (p.His734Gln)
c.1698T>G (p.His566Gln)
c.1536T>G (p.His512Gln)
n.2211T>G
c.1629T>G (p.His543Gln)
n.2164T>G
n.2186T>G
16g.50712113dupCA2633164665NOD2c.2121dup (p.Ala708CysfsTer?)
c.2202dup (p.Ala735CysfsTer?)
c.1698dup (p.Ala567CysfsTer?)
c.1536dup (p.Ala513CysfsTer?)
n.2211dup
c.1629dup (p.Ala544CysfsTer?)
n.2164dup
n.2186dup
 gnomAD v4
16g.50712113_50712114delinsTGCA2221862659NOD2c.2121_2122delinsTG (p.His707=)
c.2202_2203delinsTG (p.His734=)
c.1698_1699delinsTG (p.His566=)
c.1536_1537delinsTG (p.His512=)
n.2211_2212delinsTG
c.1629_1630delinsTG (p.His543=)
n.2164_2165delinsTG
n.2186_2187delinsTG
16g.50712114delCA622654301NOD2c.2122del (p.Ala708ProfsTer28)
c.2203del (p.Ala735ProfsTer28)
c.1699del (p.Ala567ProfsTer28)
c.1537del (p.Ala513ProfsTer28)
n.2212del
c.1630del (p.Ala544ProfsTer28)
n.2165del
n.2187del
 dbSNP gnomAD v2 gnomAD v4
16g.50712114G>ACA395871322NOD2c.2122G>A (p.Ala708Thr)
c.2203G>A (p.Ala735Thr)
c.1699G>A (p.Ala567Thr)
c.1537G>A (p.Ala513Thr)
n.2212G>A
c.1630G>A (p.Ala544Thr)
n.2165G>A
n.2187G>A
16g.50712114G>CCA395871326NOD2c.2122G>C (p.Ala708Pro)
c.2203G>C (p.Ala735Pro)
c.1699G>C (p.Ala567Pro)
c.1537G>C (p.Ala513Pro)
n.2212G>C
c.1630G>C (p.Ala544Pro)
n.2165G>C
n.2187G>C
16g.50712114G>TCA395871324NOD2c.2122G>T (p.Ala708Ser)
c.2203G>T (p.Ala735Ser)
c.1699G>T (p.Ala567Ser)
c.1537G>T (p.Ala513Ser)
n.2212G>T
c.1630G>T (p.Ala544Ser)
n.2165G>T
n.2187G>T
16g.50712115C>ACA395871328NOD2c.2123C>A (p.Ala708Asp)
c.2204C>A (p.Ala735Asp)
c.1700C>A (p.Ala567Asp)
c.1538C>A (p.Ala513Asp)
n.2213C>A
c.1631C>A (p.Ala544Asp)
n.2166C>A
n.2188C>A
16g.50712115C=CA2221862663NOD2c.2123C= (p.Ala708=)
c.2204C= (p.Ala735=)
c.1700C= (p.Ala567=)
c.1538C= (p.Ala513=)
n.2213C=
c.1631C= (p.Ala544=)
n.2166C=
n.2188C=
16g.50712115C>GCA395871331NOD2c.2123C>G (p.Ala708Gly)
c.2204C>G (p.Ala735Gly)
c.1700C>G (p.Ala567Gly)
c.1538C>G (p.Ala513Gly)
n.2213C>G
c.1631C>G (p.Ala544Gly)
n.2166C>G
n.2188C>G
16g.50712115C>TCA8051722NOD2c.2123C>T (p.Ala708Val)
c.2204C>T (p.Ala735Val)
c.1700C>T (p.Ala567Val)
c.1538C>T (p.Ala513Val)
n.2213C>T
c.1631C>T (p.Ala544Val)
n.2166C>T
n.2188C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712116C>ACA495779026NOD2c.2124C>A (p.Ala708=)
c.2205C>A (p.Ala735=)
c.1701C>A (p.Ala567=)
c.1539C>A (p.Ala513=)
n.2214C>A
c.1632C>A (p.Ala544=)
n.2167C>A
n.2189C>A
16g.50712116C>GCA495779024NOD2c.2124C>G (p.Ala708=)
c.2205C>G (p.Ala735=)
c.1701C>G (p.Ala567=)
c.1539C>G (p.Ala513=)
n.2214C>G
c.1632C>G (p.Ala544=)
n.2167C>G
n.2189C>G
16g.50712116C>TCA495779025NOD2c.2124C>T (p.Ala708=)
c.2205C>T (p.Ala735=)
c.1701C>T (p.Ala567=)
c.1539C>T (p.Ala513=)
n.2214C>T
c.1632C>T (p.Ala544=)
n.2167C>T
n.2189C>T

Number of alleles fetched