Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched