Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.50712201G>ACA281264310NOD2c.2209G>A (p.Val737Ile)
c.8G>A
c.2290G>A (p.Val764Ile)
c.1786G>A (p.Val596Ile)
c.1624G>A (p.Val542Ile)
n.2299G>A
c.1717G>A (p.Val573Ile)
n.2252G>A
n.2274G>A
 dbSNP gnomAD v3 gnomAD v4
16g.50712201G>CCA395871685NOD2c.2209G>C (p.Val737Leu)
c.8G>C
c.2290G>C (p.Val764Leu)
c.1786G>C (p.Val596Leu)
c.1624G>C (p.Val542Leu)
n.2299G>C
c.1717G>C (p.Val573Leu)
n.2252G>C
n.2274G>C
16g.50712201G=CA2221862848NOD2c.2209G= (p.Val737=)
c.8G=
c.2290G= (p.Val764=)
c.1786G= (p.Val596=)
c.1624G= (p.Val542=)
n.2299G=
c.1717G= (p.Val573=)
n.2252G=
n.2274G=
16g.50712201G>TCA395871687NOD2c.2209G>T (p.Val737Phe)
c.8G>T
c.2290G>T (p.Val764Phe)
c.1786G>T (p.Val596Phe)
c.1624G>T (p.Val542Phe)
n.2299G>T
c.1717G>T (p.Val573Phe)
n.2252G>T
n.2274G>T
16g.50712202T>ACA395871689NOD2c.2210T>A (p.Val737Asp)
c.9T>A
c.2291T>A (p.Val764Asp)
c.1787T>A (p.Val596Asp)
c.1625T>A (p.Val542Asp)
n.2300T>A
c.1718T>A (p.Val573Asp)
n.2253T>A
n.2275T>A
16g.50712202T>CCA395871691NOD2c.2210T>C (p.Val737Ala)
c.9T>C
c.2291T>C (p.Val764Ala)
c.1787T>C (p.Val596Ala)
c.1625T>C (p.Val542Ala)
n.2300T>C
c.1718T>C (p.Val573Ala)
n.2253T>C
n.2275T>C
16g.50712202T>GCA395871693NOD2c.2210T>G (p.Val737Gly)
c.9T>G
c.2291T>G (p.Val764Gly)
c.1787T>G (p.Val596Gly)
c.1625T>G (p.Val542Gly)
n.2300T>G
c.1718T>G (p.Val573Gly)
n.2253T>G
n.2275T>G
16g.50712203T>ACA495779082NOD2c.2211T>A (p.Val737=)
c.10T>A
c.2292T>A (p.Val764=)
c.1788T>A (p.Val596=)
c.1626T>A (p.Val542=)
n.2301T>A
c.1719T>A (p.Val573=)
n.2254T>A
n.2276T>A
16g.50712203T>CCA495779084NOD2c.2211T>C (p.Val737=)
c.10T>C
c.2292T>C (p.Val764=)
c.1788T>C (p.Val596=)
c.1626T>C (p.Val542=)
n.2301T>C
c.1719T>C (p.Val573=)
n.2254T>C
n.2276T>C
 dbSNP gnomAD v4
16g.50712203T>GCA495779083NOD2c.2211T>G (p.Val737=)
c.10T>G
c.2292T>G (p.Val764=)
c.1788T>G (p.Val596=)
c.1626T>G (p.Val542=)
n.2301T>G
c.1719T>G (p.Val573=)
n.2254T>G
n.2276T>G
16g.50712204G>ACA395871695NOD2c.2212G>A (p.Gly738Arg)
c.11G>A
c.2293G>A (p.Gly765Arg)
c.1789G>A (p.Gly597Arg)
c.1627G>A (p.Gly543Arg)
n.2302G>A
c.1720G>A (p.Gly574Arg)
n.2255G>A
n.2277G>A
16g.50712204G>CCA395871699NOD2c.2212G>C (p.Gly738Arg)
c.11G>C
c.2293G>C (p.Gly765Arg)
c.1789G>C (p.Gly597Arg)
c.1627G>C (p.Gly543Arg)
n.2302G>C
c.1720G>C (p.Gly574Arg)
n.2255G>C
n.2277G>C
 dbSNP gnomAD v2 gnomAD v4
16g.50712204G=CA2221862853NOD2c.2212G= (p.Gly738=)
c.11G=
c.2293G= (p.Gly765=)
c.1789G= (p.Gly597=)
c.1627G= (p.Gly543=)
n.2302G=
c.1720G= (p.Gly574=)
n.2255G=
n.2277G=
16g.50712204G>TCA395871697NOD2c.2212G>T (p.Gly738Trp)
c.11G>T
c.2293G>T (p.Gly765Trp)
c.1789G>T (p.Gly597Trp)
c.1627G>T (p.Gly543Trp)
n.2302G>T
c.1720G>T (p.Gly574Trp)
n.2255G>T
n.2277G>T
16g.50712205G>ACA395871700NOD2c.2213G>A (p.Gly738Glu)
c.12G>A
c.2294G>A (p.Gly765Glu)
c.1790G>A (p.Gly597Glu)
c.1628G>A (p.Gly543Glu)
n.2303G>A
c.1721G>A (p.Gly574Glu)
n.2256G>A
n.2278G>A
16g.50712205G>CCA395871702NOD2c.2213G>C (p.Gly738Ala)
c.12G>C
c.2294G>C (p.Gly765Ala)
c.1790G>C (p.Gly597Ala)
c.1628G>C (p.Gly543Ala)
n.2303G>C
c.1721G>C (p.Gly574Ala)
n.2256G>C
n.2278G>C
16g.50712205G>TCA395871704NOD2c.2213G>T (p.Gly738Val)
c.12G>T
c.2294G>T (p.Gly765Val)
c.1790G>T (p.Gly597Val)
c.1628G>T (p.Gly543Val)
n.2303G>T
c.1721G>T (p.Gly574Val)
n.2256G>T
n.2278G>T
16g.50712206G>ACA495779085NOD2c.2214G>A (p.Gly738=)
c.13G>A
c.2295G>A (p.Gly765=)
c.1791G>A (p.Gly597=)
c.1629G>A (p.Gly543=)
n.2304G>A
c.1722G>A (p.Gly574=)
n.2257G>A
n.2279G>A
 gnomAD v4
16g.50712206G>CCA495779086NOD2c.2214G>C (p.Gly738=)
c.13G>C
c.2295G>C (p.Gly765=)
c.1791G>C (p.Gly597=)
c.1629G>C (p.Gly543=)
n.2304G>C
c.1722G>C (p.Gly574=)
n.2257G>C
n.2279G>C
16g.50712206G>TCA495779087NOD2c.2214G>T (p.Gly738=)
c.13G>T
c.2295G>T (p.Gly765=)
c.1791G>T (p.Gly597=)
c.1629G>T (p.Gly543=)
n.2304G>T
c.1722G>T (p.Gly574=)
n.2257G>T
n.2279G>T
16g.50712207C>ACA395871706NOD2c.2215C>A (p.His739Asn)
c.14C>A
c.2296C>A (p.His766Asn)
c.1792C>A (p.His598Asn)
c.1630C>A (p.His544Asn)
n.2305C>A
c.1723C>A (p.His575Asn)
n.2258C>A
n.2280C>A
16g.50712207C>GCA395871708NOD2c.2215C>G (p.His739Asp)
c.14C>G
c.2296C>G (p.His766Asp)
c.1792C>G (p.His598Asp)
c.1630C>G (p.His544Asp)
n.2305C>G
c.1723C>G (p.His575Asp)
n.2258C>G
n.2280C>G
16g.50712207C>TCA395871710NOD2c.2215C>T (p.His739Tyr)
c.14C>T
c.2296C>T (p.His766Tyr)
c.1792C>T (p.His598Tyr)
c.1630C>T (p.His544Tyr)
n.2305C>T
c.1723C>T (p.His575Tyr)
n.2258C>T
n.2280C>T
16g.50712208A=CA2221862855NOD2c.2216A= (p.His739=)
c.15A=
c.2297A= (p.His766=)
c.1793A= (p.His598=)
c.1631A= (p.His544=)
n.2306A=
c.1724A= (p.His575=)
n.2259A=
n.2281A=
16g.50712208A>CCA395871713NOD2c.2216A>C (p.His739Pro)
c.15A>C
c.2297A>C (p.His766Pro)
c.1793A>C (p.His598Pro)
c.1631A>C (p.His544Pro)
n.2306A>C
c.1724A>C (p.His575Pro)
n.2259A>C
n.2281A>C
16g.50712208A>GCA395871715NOD2c.2216A>G (p.His739Arg)
c.15A>G
c.2297A>G (p.His766Arg)
c.1793A>G (p.His598Arg)
c.1631A>G (p.His544Arg)
n.2306A>G
c.1724A>G (p.His575Arg)
n.2259A>G
n.2281A>G
 dbSNP gnomAD v3 gnomAD v4
16g.50712208A>TCA395871716NOD2c.2216A>T (p.His739Leu)
c.15A>T
c.2297A>T (p.His766Leu)
c.1793A>T (p.His598Leu)
c.1631A>T (p.His544Leu)
n.2306A>T
c.1724A>T (p.His575Leu)
n.2259A>T
n.2281A>T
16g.50712209C>ACA395871722NOD2c.2217C>A (p.His739Gln)
c.16C>A
c.2298C>A (p.His766Gln)
c.1794C>A (p.His598Gln)
c.1632C>A (p.His544Gln)
n.2307C>A
c.1725C>A (p.His575Gln)
n.2260C>A
n.2282C>A
 dbSNP
16g.50712209C=CA2221862858NOD2c.2217C= (p.His739=)
c.16C=
c.2298C= (p.His766=)
c.1794C= (p.His598=)
c.1632C= (p.His544=)
n.2307C=
c.1725C= (p.His575=)
n.2260C=
n.2282C=
16g.50712209C>GCA395871720NOD2c.2217C>G (p.His739Gln)
c.16C>G
c.2298C>G (p.His766Gln)
c.1794C>G (p.His598Gln)
c.1632C>G (p.His544Gln)
n.2307C>G
c.1725C>G (p.His575Gln)
n.2260C>G
n.2282C>G
16g.50712209C>TCA8051751NOD2c.2217C>T (p.His739=)
c.16C>T
c.2298C>T (p.His766=)
c.1794C>T (p.His598=)
c.1632C>T (p.His544=)
n.2307C>T
c.1725C>T (p.His575=)
n.2260C>T
n.2282C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712210C>ACA395871724NOD2c.2218C>A (p.Leu740Ile)
c.17C>A
c.2299C>A (p.Leu767Ile)
c.1795C>A (p.Leu599Ile)
c.1633C>A (p.Leu545Ile)
n.2308C>A
c.1726C>A (p.Leu576Ile)
n.2261C>A
n.2283C>A
16g.50712210C=CA2221862860NOD2c.2218C= (p.Leu740=)
c.17C=
c.2299C= (p.Leu767=)
c.1795C= (p.Leu599=)
c.1633C= (p.Leu545=)
n.2308C=
c.1726C= (p.Leu576=)
n.2261C=
n.2283C=
16g.50712210C>GCA395871725NOD2c.2218C>G (p.Leu740Val)
c.17C>G
c.2299C>G (p.Leu767Val)
c.1795C>G (p.Leu599Val)
c.1633C>G (p.Leu545Val)
n.2308C>G
c.1726C>G (p.Leu576Val)
n.2261C>G
n.2283C>G
16g.50712210C>TCA8051752NOD2c.2218C>T (p.Leu740Phe)
c.17C>T
c.2299C>T (p.Leu767Phe)
c.1795C>T (p.Leu599Phe)
c.1633C>T (p.Leu545Phe)
n.2308C>T
c.1726C>T (p.Leu576Phe)
n.2261C>T
n.2283C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712211T>ACA395871727NOD2c.2219T>A (p.Leu740His)
c.18T>A
c.2300T>A (p.Leu767His)
c.1796T>A (p.Leu599His)
c.1634T>A (p.Leu545His)
n.2309T>A
c.1727T>A (p.Leu576His)
n.2262T>A
n.2284T>A
16g.50712211T>CCA395871728NOD2c.2219T>C (p.Leu740Pro)
c.18T>C
c.2300T>C (p.Leu767Pro)
c.1796T>C (p.Leu599Pro)
c.1634T>C (p.Leu545Pro)
n.2309T>C
c.1727T>C (p.Leu576Pro)
n.2262T>C
n.2284T>C
 gnomAD v4
16g.50712211T>GCA395871730NOD2c.2219T>G (p.Leu740Arg)
c.18T>G
c.2300T>G (p.Leu767Arg)
c.1796T>G (p.Leu599Arg)
c.1634T>G (p.Leu545Arg)
n.2309T>G
c.1727T>G (p.Leu576Arg)
n.2262T>G
n.2284T>G
16g.50712212C>ACA495779091NOD2c.2220C>A (p.Leu740=)
c.19C>A
c.2301C>A (p.Leu767=)
c.1797C>A (p.Leu599=)
c.1635C>A (p.Leu545=)
n.2310C>A
c.1728C>A (p.Leu576=)
n.2263C>A
n.2285C>A
16g.50712212C>GCA495779089NOD2c.2220C>G (p.Leu740=)
c.19C>G
c.2301C>G (p.Leu767=)
c.1797C>G (p.Leu599=)
c.1635C>G (p.Leu545=)
n.2310C>G
c.1728C>G (p.Leu576=)
n.2263C>G
n.2285C>G
16g.50712212C>TCA495779090NOD2c.2220C>T (p.Leu740=)
c.19C>T
c.2301C>T (p.Leu767=)
c.1797C>T (p.Leu599=)
c.1635C>T (p.Leu545=)
n.2310C>T
c.1728C>T (p.Leu576=)
n.2263C>T
n.2285C>T
 gnomAD v4
16g.50712213A>CCA395871733NOD2c.2221A>C (p.Lys741Gln)
c.20A>C
c.2302A>C (p.Lys768Gln)
c.1798A>C (p.Lys600Gln)
c.1636A>C (p.Lys546Gln)
n.2311A>C
c.1729A>C (p.Lys577Gln)
n.2264A>C
n.2286A>C
16g.50712213A>GCA395871734NOD2c.2221A>G (p.Lys741Glu)
c.20A>G
c.2302A>G (p.Lys768Glu)
c.1798A>G (p.Lys600Glu)
c.1636A>G (p.Lys546Glu)
n.2311A>G
c.1729A>G (p.Lys577Glu)
n.2264A>G
n.2286A>G
 gnomAD v4
16g.50712213A>TCA395871736NOD2c.2221A>T (p.Lys741Ter)
c.20A>T
c.2302A>T (p.Lys768Ter)
c.1798A>T (p.Lys600Ter)
c.1636A>T (p.Lys546Ter)
n.2311A>T
c.1729A>T (p.Lys577Ter)
n.2264A>T
n.2286A>T
16g.50712214A=CA2221862863NOD2c.2222A= (p.Lys741=)
c.21A=
c.2303A= (p.Lys768=)
c.1799A= (p.Lys600=)
c.1637A= (p.Lys546=)
n.2312A=
c.1730A= (p.Lys577=)
n.2265A=
n.2287A=
16g.50712214A>CCA395871739NOD2c.2222A>C (p.Lys741Thr)
c.21A>C
c.2303A>C (p.Lys768Thr)
c.1799A>C (p.Lys600Thr)
c.1637A>C (p.Lys546Thr)
n.2312A>C
c.1730A>C (p.Lys577Thr)
n.2265A>C
n.2287A>C
 gnomAD v4
16g.50712214A>GCA395871740NOD2c.2222A>G (p.Lys741Arg)
c.21A>G
c.2303A>G (p.Lys768Arg)
c.1799A>G (p.Lys600Arg)
c.1637A>G (p.Lys546Arg)
n.2312A>G
c.1730A>G (p.Lys577Arg)
n.2265A>G
n.2287A>G
 dbSNP gnomAD v3 gnomAD v4
16g.50712214A>TCA395871741NOD2c.2222A>T (p.Lys741Met)
c.21A>T
c.2303A>T (p.Lys768Met)
c.1799A>T (p.Lys600Met)
c.1637A>T (p.Lys546Met)
n.2312A>T
c.1730A>T (p.Lys577Met)
n.2265A>T
n.2287A>T
16g.50712215G>ACA495779092NOD2c.2223G>A (p.Lys741=)
c.22G>A
c.2304G>A (p.Lys768=)
c.1800G>A (p.Lys600=)
c.1638G>A (p.Lys546=)
n.2313G>A
c.1731G>A (p.Lys577=)
n.2266G>A
n.2288G>A
 ClinVar dbSNP
16g.50712215G>CCA395871744NOD2c.2223G>C (p.Lys741Asn)
c.22G>C
c.2304G>C (p.Lys768Asn)
c.1800G>C (p.Lys600Asn)
c.1638G>C (p.Lys546Asn)
n.2313G>C
c.1731G>C (p.Lys577Asn)
n.2266G>C
n.2288G>C

Number of alleles fetched