Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.50712196T>ACA395871663NOD2c.2204T>A (p.Leu735Gln)
c.3T>A
c.2285T>A (p.Leu762Gln)
c.1781T>A (p.Leu594Gln)
c.1619T>A (p.Leu540Gln)
n.2294T>A
c.1712T>A (p.Leu571Gln)
n.2247T>A
n.2269T>A
 gnomAD v4
16g.50712196T>CCA395871666NOD2c.2204T>C (p.Leu735Pro)
c.3T>C
c.2285T>C (p.Leu762Pro)
c.1781T>C (p.Leu594Pro)
c.1619T>C (p.Leu540Pro)
n.2294T>C
c.1712T>C (p.Leu571Pro)
n.2247T>C
n.2269T>C
16g.50712196T>GCA395871664NOD2c.2204T>G (p.Leu735Arg)
c.3T>G
c.2285T>G (p.Leu762Arg)
c.1781T>G (p.Leu594Arg)
c.1619T>G (p.Leu540Arg)
n.2294T>G
c.1712T>G (p.Leu571Arg)
n.2247T>G
n.2269T>G
16g.50712197G>ACA495779079NOD2c.2205G>A (p.Leu735=)
c.4G>A
c.2286G>A (p.Leu762=)
c.1782G>A (p.Leu594=)
c.1620G>A (p.Leu540=)
n.2295G>A
c.1713G>A (p.Leu571=)
n.2248G>A
n.2270G>A
16g.50712197G>CCA495779081NOD2c.2205G>C (p.Leu735=)
c.4G>C
c.2286G>C (p.Leu762=)
c.1782G>C (p.Leu594=)
c.1620G>C (p.Leu540=)
n.2295G>C
c.1713G>C (p.Leu571=)
n.2248G>C
n.2270G>C
16g.50712197G>TCA495779080NOD2c.2205G>T (p.Leu735=)
c.4G>T
c.2286G>T (p.Leu762=)
c.1782G>T (p.Leu594=)
c.1620G>T (p.Leu540=)
n.2295G>T
c.1713G>T (p.Leu571=)
n.2248G>T
n.2270G>T
16g.50712198A=CA2221862842NOD2c.2206A= (p.Asn736=)
c.5A=
c.2287A= (p.Asn763=)
c.1783A= (p.Asn595=)
c.1621A= (p.Asn541=)
n.2296A=
c.1714A= (p.Asn572=)
n.2249A=
n.2271A=
16g.50712198A>CCA395871667NOD2c.2206A>C (p.Asn736His)
c.5A>C
c.2287A>C (p.Asn763His)
c.1783A>C (p.Asn595His)
c.1621A>C (p.Asn541His)
n.2296A>C
c.1714A>C (p.Asn572His)
n.2249A>C
n.2271A>C
 dbSNP
16g.50712198A>GCA395871671NOD2c.2206A>G (p.Asn736Asp)
c.5A>G
c.2287A>G (p.Asn763Asp)
c.1783A>G (p.Asn595Asp)
c.1621A>G (p.Asn541Asp)
n.2296A>G
c.1714A>G (p.Asn572Asp)
n.2249A>G
n.2271A>G
16g.50712198A>TCA395871668NOD2c.2206A>T (p.Asn736Tyr)
c.5A>T
c.2287A>T (p.Asn763Tyr)
c.1783A>T (p.Asn595Tyr)
c.1621A>T (p.Asn541Tyr)
n.2296A>T
c.1714A>T (p.Asn572Tyr)
n.2249A>T
n.2271A>T
16g.50712199A>CCA395871673NOD2c.2207A>C (p.Asn736Thr)
c.6A>C
c.2288A>C (p.Asn763Thr)
c.1784A>C (p.Asn595Thr)
c.1622A>C (p.Asn541Thr)
n.2297A>C
c.1715A>C (p.Asn572Thr)
n.2250A>C
n.2272A>C
16g.50712199A>GCA395871675NOD2c.2207A>G (p.Asn736Ser)
c.6A>G
c.2288A>G (p.Asn763Ser)
c.1784A>G (p.Asn595Ser)
c.1622A>G (p.Asn541Ser)
n.2297A>G
c.1715A>G (p.Asn572Ser)
n.2250A>G
n.2272A>G
16g.50712199A>TCA395871677NOD2c.2207A>T (p.Asn736Ile)
c.6A>T
c.2288A>T (p.Asn763Ile)
c.1784A>T (p.Asn595Ile)
c.1622A>T (p.Asn541Ile)
n.2297A>T
c.1715A>T (p.Asn572Ile)
n.2250A>T
n.2272A>T
16g.50712200T>ACA395871680NOD2c.2208T>A (p.Asn736Lys)
c.7T>A
c.2289T>A (p.Asn763Lys)
c.1785T>A (p.Asn595Lys)
c.1623T>A (p.Asn541Lys)
n.2298T>A
c.1716T>A (p.Asn572Lys)
n.2251T>A
n.2273T>A
16g.50712200T>CCA8051750NOD2c.2208T>C (p.Asn736=)
c.7T>C
c.2289T>C (p.Asn763=)
c.1785T>C (p.Asn595=)
c.1623T>C (p.Asn541=)
n.2298T>C
c.1716T>C (p.Asn572=)
n.2251T>C
n.2273T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712200T>GCA8051749NOD2c.2208T>G (p.Asn736Lys)
c.7T>G
c.2289T>G (p.Asn763Lys)
c.1785T>G (p.Asn595Lys)
c.1623T>G (p.Asn541Lys)
n.2298T>G
c.1716T>G (p.Asn572Lys)
n.2251T>G
n.2273T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712200T=CA2221862846NOD2c.2208T= (p.Asn736=)
c.7T=
c.2289T= (p.Asn763=)
c.1785T= (p.Asn595=)
c.1623T= (p.Asn541=)
n.2298T=
c.1716T= (p.Asn572=)
n.2251T=
n.2273T=
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=

Number of alleles fetched