Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.50712254_50712316delCA2633164737NOD2c.2262_2324del (p.Leu755_Val775del)
c.61_123del
c.2343_2405del (p.Leu782_Val802del)
c.1839_1901del (p.Leu614_Val634del)
c.1677_1739del (p.Leu560_Val580del)
n.2352_2414del
c.1770_1832del (p.Leu591_Val611del)
n.2305_2367del
n.2327_2389del
 gnomAD v4
16g.50712257G>ACA495779139NOD2c.2265G>A (p.Leu755=)
c.64G>A
c.2346G>A (p.Leu782=)
c.1842G>A (p.Leu614=)
c.1680G>A (p.Leu560=)
n.2355G>A
c.1773G>A (p.Leu591=)
n.2308G>A
n.2330G>A
16g.50712257G>CCA495779140NOD2c.2265G>C (p.Leu755=)
c.64G>C
c.2346G>C (p.Leu782=)
c.1842G>C (p.Leu614=)
c.1680G>C (p.Leu560=)
n.2355G>C
c.1773G>C (p.Leu591=)
n.2308G>C
n.2330G>C
16g.50712257G>TCA495779141NOD2c.2265G>T (p.Leu755=)
c.64G>T
c.2346G>T (p.Leu782=)
c.1842G>T (p.Leu614=)
c.1680G>T (p.Leu560=)
n.2355G>T
c.1773G>T (p.Leu591=)
n.2308G>T
n.2330G>T
16g.50712258G>ACA395871921NOD2c.2266G>A (p.Ala756Thr)
c.65G>A
c.2347G>A (p.Ala783Thr)
c.1843G>A (p.Ala615Thr)
c.1681G>A (p.Ala561Thr)
n.2356G>A
c.1774G>A (p.Ala592Thr)
n.2309G>A
n.2331G>A
16g.50712258G>CCA395871923NOD2c.2266G>C (p.Ala756Pro)
c.65G>C
c.2347G>C (p.Ala783Pro)
c.1843G>C (p.Ala615Pro)
c.1681G>C (p.Ala561Pro)
n.2356G>C
c.1774G>C (p.Ala592Pro)
n.2309G>C
n.2331G>C
16g.50712258G>TCA395871925NOD2c.2266G>T (p.Ala756Ser)
c.65G>T
c.2347G>T (p.Ala783Ser)
c.1843G>T (p.Ala615Ser)
c.1681G>T (p.Ala561Ser)
n.2356G>T
c.1774G>T (p.Ala592Ser)
n.2309G>T
n.2331G>T
16g.50712259C>ACA281264422NOD2c.2267C>A (p.Ala756Asp)
c.66C>A
c.2348C>A (p.Ala783Asp)
c.1844C>A (p.Ala615Asp)
c.1682C>A (p.Ala561Asp)
n.2357C>A
c.1775C>A (p.Ala592Asp)
n.2310C>A
n.2332C>A
 dbSNP
16g.50712259C=CA2221862932NOD2c.2267C= (p.Ala756=)
c.66C=
c.2348C= (p.Ala783=)
c.1844C= (p.Ala615=)
c.1682C= (p.Ala561=)
n.2357C=
c.1775C= (p.Ala592=)
n.2310C=
n.2332C=
16g.50712259C>GCA395871931NOD2c.2267C>G (p.Ala756Gly)
c.66C>G
c.2348C>G (p.Ala783Gly)
c.1844C>G (p.Ala615Gly)
c.1682C>G (p.Ala561Gly)
n.2357C>G
c.1775C>G (p.Ala592Gly)
n.2310C>G
n.2332C>G
 ClinVar gnomAD v4
16g.50712259C>TCA395871928NOD2c.2267C>T (p.Ala756Val)
c.66C>T
c.2348C>T (p.Ala783Val)
c.1844C>T (p.Ala615Val)
c.1682C>T (p.Ala561Val)
n.2357C>T
c.1775C>T (p.Ala592Val)
n.2310C>T
n.2332C>T
 dbSNP gnomAD v2
16g.50712260C>ACA495779145NOD2c.2268C>A (p.Ala756=)
c.67C>A
c.2349C>A (p.Ala783=)
c.1845C>A (p.Ala615=)
c.1683C>A (p.Ala561=)
n.2358C>A
c.1776C>A (p.Ala592=)
n.2311C>A
n.2333C>A
16g.50712260C=CA2221862936NOD2c.2268C= (p.Ala756=)
c.67C=
c.2349C= (p.Ala783=)
c.1845C= (p.Ala615=)
c.1683C= (p.Ala561=)
n.2358C=
c.1776C= (p.Ala592=)
n.2311C=
n.2333C=
16g.50712260C>GCA495779144NOD2c.2268C>G (p.Ala756=)
c.67C>G
c.2349C>G (p.Ala783=)
c.1845C>G (p.Ala615=)
c.1683C>G (p.Ala561=)
n.2358C>G
c.1776C>G (p.Ala592=)
n.2311C>G
n.2333C>G
 dbSNP gnomAD v3 gnomAD v4
16g.50712260C>TCA495779143NOD2c.2268C>T (p.Ala756=)
c.67C>T
c.2349C>T (p.Ala783=)
c.1845C>T (p.Ala615=)
c.1683C>T (p.Ala561=)
n.2358C>T
c.1776C>T (p.Ala592=)
n.2311C>T
n.2333C>T
 ClinVar dbSNP
16g.50712261T>ACA395871933NOD2c.2269T>A (p.Phe757Ile)
c.68T>A
c.2350T>A (p.Phe784Ile)
c.1846T>A (p.Phe616Ile)
c.1684T>A (p.Phe562Ile)
n.2359T>A
c.1777T>A (p.Phe593Ile)
n.2312T>A
n.2334T>A
16g.50712261T>CCA395871935NOD2c.2269T>C (p.Phe757Leu)
c.68T>C
c.2350T>C (p.Phe784Leu)
c.1846T>C (p.Phe616Leu)
c.1684T>C (p.Phe562Leu)
n.2359T>C
c.1777T>C (p.Phe593Leu)
n.2312T>C
n.2334T>C
16g.50712261T>GCA395871937NOD2c.2269T>G (p.Phe757Val)
c.68T>G
c.2350T>G (p.Phe784Val)
c.1846T>G (p.Phe616Val)
c.1684T>G (p.Phe562Val)
n.2359T>G
c.1777T>G (p.Phe593Val)
n.2312T>G
n.2334T>G
16g.50712262T>ACA395871939NOD2c.2270T>A (p.Phe757Tyr)
c.69T>A
c.2351T>A (p.Phe784Tyr)
c.1847T>A (p.Phe616Tyr)
c.1685T>A (p.Phe562Tyr)
n.2360T>A
c.1778T>A (p.Phe593Tyr)
n.2313T>A
n.2335T>A
16g.50712262T>CCA395871941NOD2c.2270T>C (p.Phe757Ser)
c.69T>C
c.2351T>C (p.Phe784Ser)
c.1847T>C (p.Phe616Ser)
c.1685T>C (p.Phe562Ser)
n.2360T>C
c.1778T>C (p.Phe593Ser)
n.2313T>C
n.2335T>C
16g.50712262T>GCA395871943NOD2c.2270T>G (p.Phe757Cys)
c.69T>G
c.2351T>G (p.Phe784Cys)
c.1847T>G (p.Phe616Cys)
c.1685T>G (p.Phe562Cys)
n.2360T>G
c.1778T>G (p.Phe593Cys)
n.2313T>G
n.2335T>G
16g.50712263T>ACA395871944NOD2c.2271T>A (p.Phe757Leu)
c.70T>A
c.2352T>A (p.Phe784Leu)
c.1848T>A (p.Phe616Leu)
c.1686T>A (p.Phe562Leu)
n.2361T>A
c.1779T>A (p.Phe593Leu)
n.2314T>A
n.2336T>A
16g.50712263T>CCA495779147NOD2c.2271T>C (p.Phe757=)
c.70T>C
c.2352T>C (p.Phe784=)
c.1848T>C (p.Phe616=)
c.1686T>C (p.Phe562=)
n.2361T>C
c.1779T>C (p.Phe593=)
n.2314T>C
n.2336T>C
16g.50712263T>GCA395871945NOD2c.2271T>G (p.Phe757Leu)
c.70T>G
c.2352T>G (p.Phe784Leu)
c.1848T>G (p.Phe616Leu)
c.1686T>G (p.Phe562Leu)
n.2361T>G
c.1779T>G (p.Phe593Leu)
n.2314T>G
n.2336T>G
16g.50712264G>ACA395871947NOD2c.2272G>A (p.Val758Met)
c.71G>A
c.2353G>A (p.Val785Met)
c.1849G>A (p.Val617Met)
c.1687G>A (p.Val563Met)
n.2362G>A
c.1780G>A (p.Val594Met)
n.2315G>A
n.2337G>A
 dbSNP gnomAD v2
16g.50712264G>CCA395871948NOD2c.2272G>C (p.Val758Leu)
c.71G>C
c.2353G>C (p.Val785Leu)
c.1849G>C (p.Val617Leu)
c.1687G>C (p.Val563Leu)
n.2362G>C
c.1780G>C (p.Val594Leu)
n.2315G>C
n.2337G>C
16g.50712264G=CA2221862937NOD2c.2272G= (p.Val758=)
c.71G=
c.2353G= (p.Val785=)
c.1849G= (p.Val617=)
c.1687G= (p.Val563=)
n.2362G=
c.1780G= (p.Val594=)
n.2315G=
n.2337G=
16g.50712264G>TCA395871950NOD2c.2272G>T (p.Val758Leu)
c.71G>T
c.2353G>T (p.Val785Leu)
c.1849G>T (p.Val617Leu)
c.1687G>T (p.Val563Leu)
n.2362G>T
c.1780G>T (p.Val594Leu)
n.2315G>T
n.2337G>T
16g.50712265T>ACA395871952NOD2c.2273T>A (p.Val758Glu)
c.72T>A
c.2354T>A (p.Val785Glu)
c.1850T>A (p.Val617Glu)
c.1688T>A (p.Val563Glu)
n.2363T>A
c.1781T>A (p.Val594Glu)
n.2316T>A
n.2338T>A
 gnomAD v4
16g.50712265T>CCA395871956NOD2c.2273T>C (p.Val758Ala)
c.72T>C
c.2354T>C (p.Val785Ala)
c.1850T>C (p.Val617Ala)
c.1688T>C (p.Val563Ala)
n.2363T>C
c.1781T>C (p.Val594Ala)
n.2316T>C
n.2338T>C
16g.50712265T>GCA395871954NOD2c.2273T>G (p.Val758Gly)
c.72T>G
c.2354T>G (p.Val785Gly)
c.1850T>G (p.Val617Gly)
c.1688T>G (p.Val563Gly)
n.2363T>G
c.1781T>G (p.Val594Gly)
n.2316T>G
n.2338T>G
16g.50712266G>ACA495779150NOD2c.2274G>A (p.Val758=)
c.73G>A
c.2355G>A (p.Val785=)
c.1851G>A (p.Val617=)
c.1689G>A (p.Val563=)
n.2364G>A
c.1782G>A (p.Val594=)
n.2317G>A
n.2339G>A
 dbSNP gnomAD v3 gnomAD v4
16g.50712266G>CCA495779152NOD2c.2274G>C (p.Val758=)
c.73G>C
c.2355G>C (p.Val785=)
c.1851G>C (p.Val617=)
c.1689G>C (p.Val563=)
n.2364G>C
c.1782G>C (p.Val594=)
n.2317G>C
n.2339G>C
16g.50712266G=CA2221862939NOD2c.2274G= (p.Val758=)
c.73G=
c.2355G= (p.Val785=)
c.1851G= (p.Val617=)
c.1689G= (p.Val563=)
n.2364G=
c.1782G= (p.Val594=)
n.2317G=
n.2339G=
16g.50712266G>TCA495779151NOD2c.2274G>T (p.Val758=)
c.73G>T
c.2355G>T (p.Val785=)
c.1851G>T (p.Val617=)
c.1689G>T (p.Val563=)
n.2364G>T
c.1782G>T (p.Val594=)
n.2317G>T
n.2339G>T
16g.50712267C>ACA395871958NOD2c.2275C>A (p.Leu759Met)
c.74C>A
c.2356C>A (p.Leu786Met)
c.1852C>A (p.Leu618Met)
c.1690C>A (p.Leu564Met)
n.2365C>A
c.1783C>A (p.Leu595Met)
n.2318C>A
n.2340C>A
16g.50712267C=CA2221862943NOD2c.2275C= (p.Leu759=)
c.74C=
c.2356C= (p.Leu786=)
c.1852C= (p.Leu618=)
c.1690C= (p.Leu564=)
n.2365C=
c.1783C= (p.Leu595=)
n.2318C=
n.2340C=
16g.50712267C>GCA8051756NOD2c.2275C>G (p.Leu759Val)
c.74C>G
c.2356C>G (p.Leu786Val)
c.1852C>G (p.Leu618Val)
c.1690C>G (p.Leu564Val)
n.2365C>G
c.1783C>G (p.Leu595Val)
n.2318C>G
n.2340C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712267C>TCA495779155NOD2c.2275C>T (p.Leu759=)
c.74C>T
c.2356C>T (p.Leu786=)
c.1852C>T (p.Leu618=)
c.1690C>T (p.Leu564=)
n.2365C>T
c.1783C>T (p.Leu595=)
n.2318C>T
n.2340C>T
16g.50712268T>ACA395871961NOD2c.2276T>A (p.Leu759Gln)
c.75T>A
c.2357T>A (p.Leu786Gln)
c.1853T>A (p.Leu618Gln)
c.1691T>A (p.Leu564Gln)
n.2366T>A
c.1784T>A (p.Leu595Gln)
n.2319T>A
n.2341T>A
16g.50712268T>CCA395871962NOD2c.2276T>C (p.Leu759Pro)
c.75T>C
c.2357T>C (p.Leu786Pro)
c.1853T>C (p.Leu618Pro)
c.1691T>C (p.Leu564Pro)
n.2366T>C
c.1784T>C (p.Leu595Pro)
n.2319T>C
n.2341T>C
16g.50712268T>GCA395871964NOD2c.2276T>G (p.Leu759Arg)
c.75T>G
c.2357T>G (p.Leu786Arg)
c.1853T>G (p.Leu618Arg)
c.1691T>G (p.Leu564Arg)
n.2366T>G
c.1784T>G (p.Leu595Arg)
n.2319T>G
n.2341T>G
 ClinVar dbSNP
16g.50712269G>ACA495779157NOD2c.2277G>A (p.Leu759=)
c.76G>A
c.2358G>A (p.Leu786=)
c.1854G>A (p.Leu618=)
c.1692G>A (p.Leu564=)
n.2367G>A
c.1785G>A (p.Leu595=)
n.2320G>A
n.2342G>A
16g.50712269G>CCA495779158NOD2c.2277G>C (p.Leu759=)
c.76G>C
c.2358G>C (p.Leu786=)
c.1854G>C (p.Leu618=)
c.1692G>C (p.Leu564=)
n.2367G>C
c.1785G>C (p.Leu595=)
n.2320G>C
n.2342G>C
16g.50712269G>TCA495779159NOD2c.2277G>T (p.Leu759=)
c.76G>T
c.2358G>T (p.Leu786=)
c.1854G>T (p.Leu618=)
c.1692G>T (p.Leu564=)
n.2367G>T
c.1785G>T (p.Leu595=)
n.2320G>T
n.2342G>T
16g.50712270C>ACA395871965NOD2c.2278C>A (p.Gln760Lys)
c.77C>A
c.2359C>A (p.Gln787Lys)
c.1855C>A (p.Gln619Lys)
c.1693C>A (p.Gln565Lys)
n.2368C>A
c.1786C>A (p.Gln596Lys)
n.2321C>A
n.2343C>A
16g.50712270C>GCA395871966NOD2c.2278C>G (p.Gln760Glu)
c.77C>G
c.2359C>G (p.Gln787Glu)
c.1855C>G (p.Gln619Glu)
c.1693C>G (p.Gln565Glu)
n.2368C>G
c.1786C>G (p.Gln596Glu)
n.2321C>G
n.2343C>G
16g.50712270C>TCA395871967NOD2c.2278C>T (p.Gln760Ter)
c.77C>T
c.2359C>T (p.Gln787Ter)
c.1855C>T (p.Gln619Ter)
c.1693C>T (p.Gln565Ter)
n.2368C>T
c.1786C>T (p.Gln596Ter)
n.2321C>T
n.2343C>T
 gnomAD v4
16g.50712271A=CA2221862947NOD2c.2279A= (p.Gln760=)
c.78A=
c.2360A= (p.Gln787=)
c.1856A= (p.Gln619=)
c.1694A= (p.Gln565=)
n.2369A=
c.1787A= (p.Gln596=)
n.2322A=
n.2344A=
16g.50712271A>CCA395871969NOD2c.2279A>C (p.Gln760Pro)
c.78A>C
c.2360A>C (p.Gln787Pro)
c.1856A>C (p.Gln619Pro)
c.1694A>C (p.Gln565Pro)
n.2369A>C
c.1787A>C (p.Gln596Pro)
n.2322A>C
n.2344A>C
16g.50712271A>GCA395871970NOD2c.2279A>G (p.Gln760Arg)
c.78A>G
c.2360A>G (p.Gln787Arg)
c.1856A>G (p.Gln619Arg)
c.1694A>G (p.Gln565Arg)
n.2369A>G
c.1787A>G (p.Gln596Arg)
n.2322A>G
n.2344A>G
 dbSNP gnomAD v4
16g.50712271A>TCA395871972NOD2c.2279A>T (p.Gln760Leu)
c.78A>T
c.2360A>T (p.Gln787Leu)
c.1856A>T (p.Gln619Leu)
c.1694A>T (p.Gln565Leu)
n.2369A>T
c.1787A>T (p.Gln596Leu)
n.2322A>T
n.2344A>T
16g.50712272G>ACA495779162NOD2c.2280G>A (p.Gln760=)
c.79G>A
c.2361G>A (p.Gln787=)
c.1857G>A (p.Gln619=)
c.1695G>A (p.Gln565=)
n.2370G>A
c.1788G>A (p.Gln596=)
n.2323G>A
n.2345G>A
16g.50712272G>CCA395871975NOD2c.2280G>C (p.Gln760His)
c.79G>C
c.2361G>C (p.Gln787His)
c.1857G>C (p.Gln619His)
c.1695G>C (p.Gln565His)
n.2370G>C
c.1788G>C (p.Gln596His)
n.2323G>C
n.2345G>C
16g.50712272G>TCA395871974NOD2c.2280G>T (p.Gln760His)
c.79G>T
c.2361G>T (p.Gln787His)
c.1857G>T (p.Gln619His)
c.1695G>T (p.Gln565His)
n.2370G>T
c.1788G>T (p.Gln596His)
n.2323G>T
n.2345G>T
16g.50712273C>ACA395871976NOD2c.2281C>A (p.His761Asn)
c.80C>A
c.2362C>A (p.His788Asn)
c.1858C>A (p.His620Asn)
c.1696C>A (p.His566Asn)
n.2371C>A
c.1789C>A (p.His597Asn)
n.2324C>A
n.2346C>A
16g.50712273C>GCA395871977NOD2c.2281C>G (p.His761Asp)
c.80C>G
c.2362C>G (p.His788Asp)
c.1858C>G (p.His620Asp)
c.1696C>G (p.His566Asp)
n.2371C>G
c.1789C>G (p.His597Asp)
n.2324C>G
n.2346C>G
16g.50712273C>TCA395871978NOD2c.2281C>T (p.His761Tyr)
c.80C>T
c.2362C>T (p.His788Tyr)
c.1858C>T (p.His620Tyr)
c.1696C>T (p.His566Tyr)
n.2371C>T
c.1789C>T (p.His597Tyr)
n.2324C>T
n.2346C>T
16g.50712274A=CA2221862950NOD2c.2282A= (p.His761=)
c.81A=
c.2363A= (p.His788=)
c.1859A= (p.His620=)
c.1697A= (p.His566=)
n.2372A=
c.1790A= (p.His597=)
n.2325A=
n.2347A=
16g.50712274A>CCA395871980NOD2c.2282A>C (p.His761Pro)
c.81A>C
c.2363A>C (p.His788Pro)
c.1859A>C (p.His620Pro)
c.1697A>C (p.His566Pro)
n.2372A>C
c.1790A>C (p.His597Pro)
n.2325A>C
n.2347A>C
16g.50712274A>GCA281264451NOD2c.2282A>G (p.His761Arg)
c.81A>G
c.2363A>G (p.His788Arg)
c.1859A>G (p.His620Arg)
c.1697A>G (p.His566Arg)
n.2372A>G
c.1790A>G (p.His597Arg)
n.2325A>G
n.2347A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.50712274A>TCA395871982NOD2c.2282A>T (p.His761Leu)
c.81A>T
c.2363A>T (p.His788Leu)
c.1859A>T (p.His620Leu)
c.1697A>T (p.His566Leu)
n.2372A>T
c.1790A>T (p.His597Leu)
n.2325A>T
n.2347A>T
16g.50712275C>ACA8051757NOD2c.2283C>A (p.His761Gln)
c.82C>A
c.2364C>A (p.His788Gln)
c.1860C>A (p.His620Gln)
c.1698C>A (p.His566Gln)
n.2373C>A
c.1791C>A (p.His597Gln)
n.2326C>A
n.2348C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712275C=CA2221862956NOD2c.2283C= (p.His761=)
c.82C=
c.2364C= (p.His788=)
c.1860C= (p.His620=)
c.1698C= (p.His566=)
n.2373C=
c.1791C= (p.His597=)
n.2326C=
n.2348C=
16g.50712275C>GCA395871984NOD2c.2283C>G (p.His761Gln)
c.82C>G
c.2364C>G (p.His788Gln)
c.1860C>G (p.His620Gln)
c.1698C>G (p.His566Gln)
n.2373C>G
c.1791C>G (p.His597Gln)
n.2326C>G
n.2348C>G
16g.50712275C>TCA8051758NOD2c.2283C>T (p.His761=)
c.82C>T
c.2364C>T (p.His788=)
c.1860C>T (p.His620=)
c.1698C>T (p.His566=)
n.2373C>T
c.1791C>T (p.His597=)
n.2326C>T
n.2348C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712276C>ACA395871985NOD2c.2284C>A (p.Leu762Ile)
c.83C>A
c.2365C>A (p.Leu789Ile)
c.1861C>A (p.Leu621Ile)
c.1699C>A (p.Leu567Ile)
n.2374C>A
c.1792C>A (p.Leu598Ile)
n.2327C>A
n.2349C>A
16g.50712276C=CA2221862959NOD2c.2284C= (p.Leu762=)
c.83C=
c.2365C= (p.Leu789=)
c.1861C= (p.Leu621=)
c.1699C= (p.Leu567=)
n.2374C=
c.1792C= (p.Leu598=)
n.2327C=
n.2349C=
16g.50712276C>GCA395871986NOD2c.2284C>G (p.Leu762Val)
c.83C>G
c.2365C>G (p.Leu789Val)
c.1861C>G (p.Leu621Val)
c.1699C>G (p.Leu567Val)
n.2374C>G
c.1792C>G (p.Leu598Val)
n.2327C>G
n.2349C>G
16g.50712276C>TCA8051759NOD2c.2284C>T (p.Leu762Phe)
c.83C>T
c.2365C>T (p.Leu789Phe)
c.1861C>T (p.Leu621Phe)
c.1699C>T (p.Leu567Phe)
n.2374C>T
c.1792C>T (p.Leu598Phe)
n.2327C>T
n.2349C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712277T>ACA395871992NOD2c.2285T>A (p.Leu762His)
c.84T>A
c.2366T>A (p.Leu789His)
c.1862T>A (p.Leu621His)
c.1700T>A (p.Leu567His)
n.2375T>A
c.1793T>A (p.Leu598His)
n.2328T>A
n.2350T>A
16g.50712277T>CCA395871996NOD2c.2285T>C (p.Leu762Pro)
c.84T>C
c.2366T>C (p.Leu789Pro)
c.1862T>C (p.Leu621Pro)
c.1700T>C (p.Leu567Pro)
n.2375T>C
c.1793T>C (p.Leu598Pro)
n.2328T>C
n.2350T>C
16g.50712277T>GCA395871989NOD2c.2285T>G (p.Leu762Arg)
c.84T>G
c.2366T>G (p.Leu789Arg)
c.1862T>G (p.Leu621Arg)
c.1700T>G (p.Leu567Arg)
n.2375T>G
c.1793T>G (p.Leu598Arg)
n.2328T>G
n.2350T>G
16g.50712278C>ACA495779166NOD2c.2286C>A (p.Leu762=)
c.85C>A
c.2367C>A (p.Leu789=)
c.1863C>A (p.Leu621=)
c.1701C>A (p.Leu567=)
n.2376C>A
c.1794C>A (p.Leu598=)
n.2329C>A
n.2351C>A
16g.50712278C=CA2221862962NOD2c.2286C= (p.Leu762=)
c.85C=
c.2367C= (p.Leu789=)
c.1863C= (p.Leu621=)
c.1701C= (p.Leu567=)
n.2376C=
c.1794C= (p.Leu598=)
n.2329C=
n.2351C=
16g.50712278C>GCA8051760NOD2c.2286C>G (p.Leu762=)
c.85C>G
c.2367C>G (p.Leu789=)
c.1863C>G (p.Leu621=)
c.1701C>G (p.Leu567=)
n.2376C>G
c.1794C>G (p.Leu598=)
n.2329C>G
n.2351C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712278C>TCA495779167NOD2c.2286C>T (p.Leu762=)
c.85C>T
c.2367C>T (p.Leu789=)
c.1863C>T (p.Leu621=)
c.1701C>T (p.Leu567=)
n.2376C>T
c.1794C>T (p.Leu598=)
n.2329C>T
n.2351C>T
 gnomAD v4
16g.50712279C>ACA495779168NOD2c.2287C>A (p.Arg763=)
c.86C>A
c.2368C>A (p.Arg790=)
c.1864C>A (p.Arg622=)
c.1702C>A (p.Arg568=)
n.2377C>A
c.1795C>A (p.Arg599=)
n.2330C>A
n.2352C>A
16g.50712279C=CA2221862965NOD2c.2287C= (p.Arg763=)
c.86C=
c.2368C= (p.Arg790=)
c.1864C= (p.Arg622=)
c.1702C= (p.Arg568=)
n.2377C=
c.1795C= (p.Arg599=)
n.2330C=
n.2352C=
16g.50712279C>GCA395871998NOD2c.2287C>G (p.Arg763Gly)
c.86C>G
c.2368C>G (p.Arg790Gly)
c.1864C>G (p.Arg622Gly)
c.1702C>G (p.Arg568Gly)
n.2377C>G
c.1795C>G (p.Arg599Gly)
n.2330C>G
n.2352C>G
16g.50712279C>TCA8051761NOD2c.2287C>T (p.Arg763Trp)
c.86C>T
c.2368C>T (p.Arg790Trp)
c.1864C>T (p.Arg622Trp)
c.1702C>T (p.Arg568Trp)
n.2377C>T
c.1795C>T (p.Arg599Trp)
n.2330C>T
n.2352C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.50712280G>ACA8051762NOD2c.2288G>A (p.Arg763Gln)
c.87G>A
c.2369G>A (p.Arg790Gln)
c.1865G>A (p.Arg622Gln)
c.1703G>A (p.Arg568Gln)
n.2378G>A
c.1796G>A (p.Arg599Gln)
n.2331G>A
n.2353G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712280G>CCA395872000NOD2c.2288G>C (p.Arg763Pro)
c.87G>C
c.2369G>C (p.Arg790Pro)
c.1865G>C (p.Arg622Pro)
c.1703G>C (p.Arg568Pro)
n.2378G>C
c.1796G>C (p.Arg599Pro)
n.2331G>C
n.2353G>C
16g.50712280G=CA2221862969NOD2c.2288G= (p.Arg763=)
c.87G=
c.2369G= (p.Arg790=)
c.1865G= (p.Arg622=)
c.1703G= (p.Arg568=)
n.2378G=
c.1796G= (p.Arg599=)
n.2331G=
n.2353G=
16g.50712280G>TCA395872002NOD2c.2288G>T (p.Arg763Leu)
c.87G>T
c.2369G>T (p.Arg790Leu)
c.1865G>T (p.Arg622Leu)
c.1703G>T (p.Arg568Leu)
n.2378G>T
c.1796G>T (p.Arg599Leu)
n.2331G>T
n.2353G>T
 COSMIC
16g.50712281G>ACA495779171NOD2c.2289G>A (p.Arg763=)
c.88G>A
c.2370G>A (p.Arg790=)
c.1866G>A (p.Arg622=)
c.1704G>A (p.Arg568=)
n.2379G>A
c.1797G>A (p.Arg599=)
n.2332G>A
n.2354G>A
 COSMIC
16g.50712281G>CCA495779170NOD2c.2289G>C (p.Arg763=)
c.88G>C
c.2370G>C (p.Arg790=)
c.1866G>C (p.Arg622=)
c.1704G>C (p.Arg568=)
n.2379G>C
c.1797G>C (p.Arg599=)
n.2332G>C
n.2354G>C
16g.50712281G>TCA495779169NOD2c.2289G>T (p.Arg763=)
c.88G>T
c.2370G>T (p.Arg790=)
c.1866G>T (p.Arg622=)
c.1704G>T (p.Arg568=)
n.2379G>T
c.1797G>T (p.Arg599=)
n.2332G>T
n.2354G>T
16g.50712282C>ACA495779172NOD2c.2290C>A (p.Arg764=)
c.89C>A
c.2371C>A (p.Arg791=)
c.1867C>A (p.Arg623=)
c.1705C>A (p.Arg569=)
n.2380C>A
c.1798C>A (p.Arg600=)
n.2333C>A
n.2355C>A
16g.50712282C=CA2221862973NOD2c.2290C= (p.Arg764=)
c.89C=
c.2371C= (p.Arg791=)
c.1867C= (p.Arg623=)
c.1705C= (p.Arg569=)
n.2380C=
c.1798C= (p.Arg600=)
n.2333C=
n.2355C=
16g.50712282C>GCA395872004NOD2c.2290C>G (p.Arg764Gly)
c.89C>G
c.2371C>G (p.Arg791Gly)
c.1867C>G (p.Arg623Gly)
c.1705C>G (p.Arg569Gly)
n.2380C>G
c.1798C>G (p.Arg600Gly)
n.2333C>G
n.2355C>G
 ClinVar
16g.50712282C>TCA150259NOD2c.2290C>T (p.Arg764Trp)
c.89C>T
c.2371C>T (p.Arg791Trp)
c.1867C>T (p.Arg623Trp)
c.1705C>T (p.Arg569Trp)
n.2380C>T
c.1798C>T (p.Arg600Trp)
n.2333C>T
n.2355C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712283G>ACA150262NOD2c.2291G>A (p.Arg764Gln)
c.90G>A
c.2372G>A (p.Arg791Gln)
c.1868G>A (p.Arg623Gln)
c.1706G>A (p.Arg569Gln)
n.2381G>A
c.1799G>A (p.Arg600Gln)
n.2334G>A
n.2356G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712283G>CCA395872008NOD2c.2291G>C (p.Arg764Pro)
c.90G>C
c.2372G>C (p.Arg791Pro)
c.1868G>C (p.Arg623Pro)
c.1706G>C (p.Arg569Pro)
n.2381G>C
c.1799G>C (p.Arg600Pro)
n.2334G>C
n.2356G>C
16g.50712283G=CA2221862977NOD2c.2291G= (p.Arg764=)
c.90G=
c.2372G= (p.Arg791=)
c.1868G= (p.Arg623=)
c.1706G= (p.Arg569=)
n.2381G=
c.1799G= (p.Arg600=)
n.2334G=
n.2356G=
16g.50712283G>TCA395872011NOD2c.2291G>T (p.Arg764Leu)
c.90G>T
c.2372G>T (p.Arg791Leu)
c.1868G>T (p.Arg623Leu)
c.1706G>T (p.Arg569Leu)
n.2381G>T
c.1799G>T (p.Arg600Leu)
n.2334G>T
n.2356G>T
16g.50712284delCA2633164767NOD2c.2292del (p.Val766TrpfsTer?)
c.91del
c.2373del (p.Val793TrpfsTer?)
c.1869del (p.Val625TrpfsTer?)
c.1707del (p.Val571TrpfsTer?)
n.2382del
c.1800del (p.Val602TrpfsTer?)
n.2335del
n.2357del
 gnomAD v4
16g.50712284G>ACA495779173NOD2c.2292G>A (p.Arg764=)
c.91G>A
c.2373G>A (p.Arg791=)
c.1869G>A (p.Arg623=)
c.1707G>A (p.Arg569=)
n.2382G>A
c.1800G>A (p.Arg600=)
n.2335G>A
n.2357G>A
16g.50712284G>CCA495779175NOD2c.2292G>C (p.Arg764=)
c.91G>C
c.2373G>C (p.Arg791=)
c.1869G>C (p.Arg623=)
c.1707G>C (p.Arg569=)
n.2382G>C
c.1800G>C (p.Arg600=)
n.2335G>C
n.2357G>C
16g.50712284G=CA2221862981NOD2c.2292G= (p.Arg764=)
c.91G=
c.2373G= (p.Arg791=)
c.1869G= (p.Arg623=)
c.1707G= (p.Arg569=)
n.2382G=
c.1800G= (p.Arg600=)
n.2335G=
n.2357G=
16g.50712284G>TCA495779176NOD2c.2292G>T (p.Arg764=)
c.91G>T
c.2373G>T (p.Arg791=)
c.1869G>T (p.Arg623=)
c.1707G>T (p.Arg569=)
n.2382G>T
c.1800G>T (p.Arg600=)
n.2335G>T
n.2357G>T
 dbSNP gnomAD v2 gnomAD v4
16g.50712285C>ACA395872013NOD2c.2293C>A (p.Pro765Thr)
c.92C>A
c.2374C>A (p.Pro792Thr)
c.1870C>A (p.Pro624Thr)
c.1708C>A (p.Pro570Thr)
n.2383C>A
c.1801C>A (p.Pro601Thr)
n.2336C>A
n.2358C>A
16g.50712285C>GCA395872014NOD2c.2293C>G (p.Pro765Ala)
c.92C>G
c.2374C>G (p.Pro792Ala)
c.1870C>G (p.Pro624Ala)
c.1708C>G (p.Pro570Ala)
n.2383C>G
c.1801C>G (p.Pro601Ala)
n.2336C>G
n.2358C>G
16g.50712285C>TCA395872015NOD2c.2293C>T (p.Pro765Ser)
c.92C>T
c.2374C>T (p.Pro792Ser)
c.1870C>T (p.Pro624Ser)
c.1708C>T (p.Pro570Ser)
n.2383C>T
c.1801C>T (p.Pro601Ser)
n.2336C>T
n.2358C>T
16g.50712286C>ACA395872018NOD2c.2294C>A (p.Pro765His)
c.93C>A
c.2375C>A (p.Pro792His)
c.1871C>A (p.Pro624His)
c.1709C>A (p.Pro570His)
n.2384C>A
c.1802C>A (p.Pro601His)
n.2337C>A
n.2359C>A
 dbSNP
16g.50712286C=CA2221862987NOD2c.2294C= (p.Pro765=)
c.93C=
c.2375C= (p.Pro792=)
c.1871C= (p.Pro624=)
c.1709C= (p.Pro570=)
n.2384C=
c.1802C= (p.Pro601=)
n.2337C=
n.2359C=
16g.50712286C>GCA395872016NOD2c.2294C>G (p.Pro765Arg)
c.93C>G
c.2375C>G (p.Pro792Arg)
c.1871C>G (p.Pro624Arg)
c.1709C>G (p.Pro570Arg)
n.2384C>G
c.1802C>G (p.Pro601Arg)
n.2337C>G
n.2359C>G
 ClinVar dbSNP
16g.50712286C>TCA395872017NOD2c.2294C>T (p.Pro765Leu)
c.93C>T
c.2375C>T (p.Pro792Leu)
c.1871C>T (p.Pro624Leu)
c.1709C>T (p.Pro570Leu)
n.2384C>T
c.1802C>T (p.Pro601Leu)
n.2337C>T
n.2359C>T
16g.50712287C>ACA495779178NOD2c.2295C>A (p.Pro765=)
c.94C>A
c.2376C>A (p.Pro792=)
c.1872C>A (p.Pro624=)
c.1710C>A (p.Pro570=)
n.2385C>A
c.1803C>A (p.Pro601=)
n.2338C>A
n.2360C>A
16g.50712287C=CA2221862993NOD2c.2295C= (p.Pro765=)
c.94C=
c.2376C= (p.Pro792=)
c.1872C= (p.Pro624=)
c.1710C= (p.Pro570=)
n.2385C=
c.1803C= (p.Pro601=)
n.2338C=
n.2360C=
16g.50712287C>GCA495779177NOD2c.2295C>G (p.Pro765=)
c.94C>G
c.2376C>G (p.Pro792=)
c.1872C>G (p.Pro624=)
c.1710C>G (p.Pro570=)
n.2385C>G
c.1803C>G (p.Pro601=)
n.2338C>G
n.2360C>G
16g.50712287C>TCA8051763NOD2c.2295C>T (p.Pro765=)
c.94C>T
c.2376C>T (p.Pro792=)
c.1872C>T (p.Pro624=)
c.1710C>T (p.Pro570=)
n.2385C>T
c.1803C>T (p.Pro601=)
n.2338C>T
n.2360C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712288G>ACA150265NOD2c.2296G>A (p.Val766Met)
c.95G>A
c.2377G>A (p.Val793Met)
c.1873G>A (p.Val625Met)
c.1711G>A (p.Val571Met)
n.2386G>A
c.1804G>A (p.Val602Met)
n.2339G>A
n.2361G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712288G>CCA395872022NOD2c.2296G>C (p.Val766Leu)
c.95G>C
c.2377G>C (p.Val793Leu)
c.1873G>C (p.Val625Leu)
c.1711G>C (p.Val571Leu)
n.2386G>C
c.1804G>C (p.Val602Leu)
n.2339G>C
n.2361G>C
 gnomAD v4
16g.50712288G=CA2221862998NOD2c.2296G= (p.Val766=)
c.95G=
c.2377G= (p.Val793=)
c.1873G= (p.Val625=)
c.1711G= (p.Val571=)
n.2386G=
c.1804G= (p.Val602=)
n.2339G=
n.2361G=
16g.50712288G>TCA395872024NOD2c.2296G>T (p.Val766Leu)
c.95G>T
c.2377G>T (p.Val793Leu)
c.1873G>T (p.Val625Leu)
c.1711G>T (p.Val571Leu)
n.2386G>T
c.1804G>T (p.Val602Leu)
n.2339G>T
n.2361G>T
 dbSNP gnomAD v2 gnomAD v4
16g.50712289T>ACA395872026NOD2c.2297T>A (p.Val766Glu)
c.96T>A
c.2378T>A (p.Val793Glu)
c.1874T>A (p.Val625Glu)
c.1712T>A (p.Val571Glu)
n.2387T>A
c.1805T>A (p.Val602Glu)
n.2340T>A
n.2362T>A
16g.50712289T>CCA395872028NOD2c.2297T>C (p.Val766Ala)
c.96T>C
c.2378T>C (p.Val793Ala)
c.1874T>C (p.Val625Ala)
c.1712T>C (p.Val571Ala)
n.2387T>C
c.1805T>C (p.Val602Ala)
n.2340T>C
n.2362T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.50712289T>GCA395872030NOD2c.2297T>G (p.Val766Gly)
c.96T>G
c.2378T>G (p.Val793Gly)
c.1874T>G (p.Val625Gly)
c.1712T>G (p.Val571Gly)
n.2387T>G
c.1805T>G (p.Val602Gly)
n.2340T>G
n.2362T>G
 ClinVar dbSNP
16g.50712289T=CA2221863003NOD2c.2297T= (p.Val766=)
c.96T=
c.2378T= (p.Val793=)
c.1874T= (p.Val625=)
c.1712T= (p.Val571=)
n.2387T=
c.1805T= (p.Val602=)
n.2340T=
n.2362T=
16g.50712290G>ACA8051764NOD2c.2298G>A (p.Val766=)
c.97G>A
c.2379G>A (p.Val793=)
c.1875G>A (p.Val625=)
c.1713G>A (p.Val571=)
n.2388G>A
c.1806G>A (p.Val602=)
n.2341G>A
n.2363G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712290G>CCA495779181NOD2c.2298G>C (p.Val766=)
c.97G>C
c.2379G>C (p.Val793=)
c.1875G>C (p.Val625=)
c.1713G>C (p.Val571=)
n.2388G>C
c.1806G>C (p.Val602=)
n.2341G>C
n.2363G>C
16g.50712290G=CA2221863006NOD2c.2298G= (p.Val766=)
c.97G=
c.2379G= (p.Val793=)
c.1875G= (p.Val625=)
c.1713G= (p.Val571=)
n.2388G=
c.1806G= (p.Val602=)
n.2341G=
n.2363G=
16g.50712290G>TCA495779182NOD2c.2298G>T (p.Val766=)
c.97G>T
c.2379G>T (p.Val793=)
c.1875G>T (p.Val625=)
c.1713G>T (p.Val571=)
n.2388G>T
c.1806G>T (p.Val602=)
n.2341G>T
n.2363G>T
16g.50712291G>ACA281264511NOD2c.2299G>A (p.Ala767Thr)
c.98G>A
c.2380G>A (p.Ala794Thr)
c.1876G>A (p.Ala626Thr)
c.1714G>A (p.Ala572Thr)
n.2389G>A
c.1807G>A (p.Ala603Thr)
n.2342G>A
n.2364G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.50712291G>CCA395872033NOD2c.2299G>C (p.Ala767Pro)
c.98G>C
c.2380G>C (p.Ala794Pro)
c.1876G>C (p.Ala626Pro)
c.1714G>C (p.Ala572Pro)
n.2389G>C
c.1807G>C (p.Ala603Pro)
n.2342G>C
n.2364G>C
16g.50712291G=CA2221863009NOD2c.2299G= (p.Ala767=)
c.98G=
c.2380G= (p.Ala794=)
c.1876G= (p.Ala626=)
c.1714G= (p.Ala572=)
n.2389G=
c.1807G= (p.Ala603=)
n.2342G=
n.2364G=
16g.50712291G>TCA395872035NOD2c.2299G>T (p.Ala767Ser)
c.98G>T
c.2380G>T (p.Ala794Ser)
c.1876G>T (p.Ala626Ser)
c.1714G>T (p.Ala572Ser)
n.2389G>T
c.1807G>T (p.Ala603Ser)
n.2342G>T
n.2364G>T
16g.50712292C>ACA395872043NOD2c.2300C>A (p.Ala767Asp)
c.99C>A
c.2381C>A (p.Ala794Asp)
c.1877C>A (p.Ala626Asp)
c.1715C>A (p.Ala572Asp)
n.2390C>A
c.1808C>A (p.Ala603Asp)
n.2343C>A
n.2365C>A
16g.50712292C>GCA395872041NOD2c.2300C>G (p.Ala767Gly)
c.99C>G
c.2381C>G (p.Ala794Gly)
c.1877C>G (p.Ala626Gly)
c.1715C>G (p.Ala572Gly)
n.2390C>G
c.1808C>G (p.Ala603Gly)
n.2343C>G
n.2365C>G
16g.50712292C>TCA395872038NOD2c.2300C>T (p.Ala767Val)
c.99C>T
c.2381C>T (p.Ala794Val)
c.1877C>T (p.Ala626Val)
c.1715C>T (p.Ala572Val)
n.2390C>T
c.1808C>T (p.Ala603Val)
n.2343C>T
n.2365C>T
 gnomAD v4
16g.50712293C>ACA495779186NOD2c.2301C>A (p.Ala767=)
c.100C>A
c.2382C>A (p.Ala794=)
c.1878C>A (p.Ala626=)
c.1716C>A (p.Ala572=)
n.2391C>A
c.1809C>A (p.Ala603=)
n.2344C>A
n.2366C>A
 gnomAD v4
16g.50712293C>GCA495779184NOD2c.2301C>G (p.Ala767=)
c.100C>G
c.2382C>G (p.Ala794=)
c.1878C>G (p.Ala626=)
c.1716C>G (p.Ala572=)
n.2391C>G
c.1809C>G (p.Ala603=)
n.2344C>G
n.2366C>G
16g.50712293C>TCA495779185NOD2c.2301C>T (p.Ala767=)
c.100C>T
c.2382C>T (p.Ala794=)
c.1878C>T (p.Ala626=)
c.1716C>T (p.Ala572=)
n.2391C>T
c.1809C>T (p.Ala603=)
n.2344C>T
n.2366C>T
 gnomAD v4
16g.50712294C>ACA395872045NOD2c.2302C>A (p.Leu768Met)
c.101C>A
c.2383C>A (p.Leu795Met)
c.1879C>A (p.Leu627Met)
c.1717C>A (p.Leu573Met)
n.2392C>A
c.1810C>A (p.Leu604Met)
n.2345C>A
n.2367C>A
16g.50712294C>GCA395872046NOD2c.2302C>G (p.Leu768Val)
c.101C>G
c.2383C>G (p.Leu795Val)
c.1879C>G (p.Leu627Val)
c.1717C>G (p.Leu573Val)
n.2392C>G
c.1810C>G (p.Leu604Val)
n.2345C>G
n.2367C>G
16g.50712294C>TCA495779187NOD2c.2302C>T (p.Leu768=)
c.101C>T
c.2383C>T (p.Leu795=)
c.1879C>T (p.Leu627=)
c.1717C>T (p.Leu573=)
n.2392C>T
c.1810C>T (p.Leu604=)
n.2345C>T
n.2367C>T
 gnomAD v4 COSMIC
16g.50712295T>ACA395872047NOD2c.2303T>A (p.Leu768Gln)
c.102T>A
c.2384T>A (p.Leu795Gln)
c.1880T>A (p.Leu627Gln)
c.1718T>A (p.Leu573Gln)
n.2393T>A
c.1811T>A (p.Leu604Gln)
n.2346T>A
n.2368T>A
16g.50712295T>CCA395872048NOD2c.2303T>C (p.Leu768Pro)
c.102T>C
c.2384T>C (p.Leu795Pro)
c.1880T>C (p.Leu627Pro)
c.1718T>C (p.Leu573Pro)
n.2393T>C
c.1811T>C (p.Leu604Pro)
n.2346T>C
n.2368T>C
16g.50712295T>GCA395872050NOD2c.2303T>G (p.Leu768Arg)
c.102T>G
c.2384T>G (p.Leu795Arg)
c.1880T>G (p.Leu627Arg)
c.1718T>G (p.Leu573Arg)
n.2393T>G
c.1811T>G (p.Leu604Arg)
n.2346T>G
n.2368T>G
16g.50712296G>ACA495779188NOD2c.2304G>A (p.Leu768=)
c.103G>A
c.2385G>A (p.Leu795=)
c.1881G>A (p.Leu627=)
c.1719G>A (p.Leu573=)
n.2394G>A
c.1812G>A (p.Leu604=)
n.2347G>A
n.2369G>A
 gnomAD v4
16g.50712296G>CCA495779189NOD2c.2304G>C (p.Leu768=)
c.103G>C
c.2385G>C (p.Leu795=)
c.1881G>C (p.Leu627=)
c.1719G>C (p.Leu573=)
n.2394G>C
c.1812G>C (p.Leu604=)
n.2347G>C
n.2369G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.50712296G=CA2221863011NOD2c.2304G= (p.Leu768=)
c.103G=
c.2385G= (p.Leu795=)
c.1881G= (p.Leu627=)
c.1719G= (p.Leu573=)
n.2394G=
c.1812G= (p.Leu604=)
n.2347G=
n.2369G=
16g.50712296G>TCA495779190NOD2c.2304G>T (p.Leu768=)
c.103G>T
c.2385G>T (p.Leu795=)
c.1881G>T (p.Leu627=)
c.1719G>T (p.Leu573=)
n.2394G>T
c.1812G>T (p.Leu604=)
n.2347G>T
n.2369G>T
16g.50712297C>ACA395872052NOD2c.2305C>A (p.Gln769Lys)
c.104C>A
c.2386C>A (p.Gln796Lys)
c.1882C>A (p.Gln628Lys)
c.1720C>A (p.Gln574Lys)
n.2395C>A
c.1813C>A (p.Gln605Lys)
n.2348C>A
n.2370C>A
16g.50712297C=CA2221863013NOD2c.2305C= (p.Gln769=)
c.104C=
c.2386C= (p.Gln796=)
c.1882C= (p.Gln628=)
c.1720C= (p.Gln574=)
n.2395C=
c.1813C= (p.Gln605=)
n.2348C=
n.2370C=
16g.50712297C>GCA395872055NOD2c.2305C>G (p.Gln769Glu)
c.104C>G
c.2386C>G (p.Gln796Glu)
c.1882C>G (p.Gln628Glu)
c.1720C>G (p.Gln574Glu)
n.2395C>G
c.1813C>G (p.Gln605Glu)
n.2348C>G
n.2370C>G
16g.50712297C>TCA8051765NOD2c.2305C>T (p.Gln769Ter)
c.104C>T
c.2386C>T (p.Gln796Ter)
c.1882C>T (p.Gln628Ter)
c.1720C>T (p.Gln574Ter)
n.2395C>T
c.1813C>T (p.Gln605Ter)
n.2348C>T
n.2370C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712298A=CA2221863016NOD2c.2306A= (p.Gln769=)
c.105A=
c.2387A= (p.Gln796=)
c.1883A= (p.Gln628=)
c.1721A= (p.Gln574=)
n.2396A=
c.1814A= (p.Gln605=)
n.2349A=
n.2371A=
16g.50712298A>CCA395872059NOD2c.2306A>C (p.Gln769Pro)
c.105A>C
c.2387A>C (p.Gln796Pro)
c.1883A>C (p.Gln628Pro)
c.1721A>C (p.Gln574Pro)
n.2396A>C
c.1814A>C (p.Gln605Pro)
n.2349A>C
n.2371A>C
 dbSNP gnomAD v2 gnomAD v4
16g.50712298A>GCA395872061NOD2c.2306A>G (p.Gln769Arg)
c.105A>G
c.2387A>G (p.Gln796Arg)
c.1883A>G (p.Gln628Arg)
c.1721A>G (p.Gln574Arg)
n.2396A>G
c.1814A>G (p.Gln605Arg)
n.2349A>G
n.2371A>G
16g.50712298A>TCA395872064NOD2c.2306A>T (p.Gln769Leu)
c.105A>T
c.2387A>T (p.Gln796Leu)
c.1883A>T (p.Gln628Leu)
c.1721A>T (p.Gln574Leu)
n.2396A>T
c.1814A>T (p.Gln605Leu)
n.2349A>T
n.2371A>T
16g.50712299G>ACA495779194NOD2c.2307G>A (p.Gln769=)
c.106G>A
c.2388G>A (p.Gln796=)
c.1884G>A (p.Gln628=)
c.1722G>A (p.Gln574=)
n.2397G>A
c.1815G>A (p.Gln605=)
n.2350G>A
n.2372G>A
 gnomAD v4
16g.50712299G>CCA395872066NOD2c.2307G>C (p.Gln769His)
c.106G>C
c.2388G>C (p.Gln796His)
c.1884G>C (p.Gln628His)
c.1722G>C (p.Gln574His)
n.2397G>C
c.1815G>C (p.Gln605His)
n.2350G>C
n.2372G>C
16g.50712299G>TCA395872068NOD2c.2307G>T (p.Gln769His)
c.106G>T
c.2388G>T (p.Gln796His)
c.1884G>T (p.Gln628His)
c.1722G>T (p.Gln574His)
n.2397G>T
c.1815G>T (p.Gln605His)
n.2350G>T
n.2372G>T
16g.50712300C>ACA395872073NOD2c.2308C>A (p.Leu770Met)
c.107C>A
c.2389C>A (p.Leu797Met)
c.1885C>A (p.Leu629Met)
c.1723C>A (p.Leu575Met)
n.2398C>A
c.1816C>A (p.Leu606Met)
n.2351C>A
n.2373C>A
16g.50712300C>GCA395872071NOD2c.2308C>G (p.Leu770Val)
c.107C>G
c.2389C>G (p.Leu797Val)
c.1885C>G (p.Leu629Val)
c.1723C>G (p.Leu575Val)
n.2398C>G
c.1816C>G (p.Leu606Val)
n.2351C>G
n.2373C>G
16g.50712300C>TCA495779195NOD2c.2308C>T (p.Leu770=)
c.107C>T
c.2389C>T (p.Leu797=)
c.1885C>T (p.Leu629=)
c.1723C>T (p.Leu575=)
n.2398C>T
c.1816C>T (p.Leu606=)
n.2351C>T
n.2373C>T
16g.50712301T>ACA395872076NOD2c.2309T>A (p.Leu770Gln)
c.108T>A
c.2390T>A (p.Leu797Gln)
c.1886T>A (p.Leu629Gln)
c.1724T>A (p.Leu575Gln)
n.2399T>A
c.1817T>A (p.Leu606Gln)
n.2352T>A
n.2374T>A
16g.50712301T>CCA395872078NOD2c.2309T>C (p.Leu770Pro)
c.108T>C
c.2390T>C (p.Leu797Pro)
c.1886T>C (p.Leu629Pro)
c.1724T>C (p.Leu575Pro)
n.2399T>C
c.1817T>C (p.Leu606Pro)
n.2352T>C
n.2374T>C
16g.50712301T>GCA395872080NOD2c.2309T>G (p.Leu770Arg)
c.108T>G
c.2390T>G (p.Leu797Arg)
c.1886T>G (p.Leu629Arg)
c.1724T>G (p.Leu575Arg)
n.2399T>G
c.1817T>G (p.Leu606Arg)
n.2352T>G
n.2374T>G
16g.50712302G>ACA495779198NOD2c.2310G>A (p.Leu770=)
c.109G>A
c.2391G>A (p.Leu797=)
c.1887G>A (p.Leu629=)
c.1725G>A (p.Leu575=)
n.2400G>A
c.1818G>A (p.Leu606=)
n.2353G>A
n.2375G>A
 dbSNP
16g.50712302G>CCA495779199NOD2c.2310G>C (p.Leu770=)
c.109G>C
c.2391G>C (p.Leu797=)
c.1887G>C (p.Leu629=)
c.1725G>C (p.Leu575=)
n.2400G>C
c.1818G>C (p.Leu606=)
n.2353G>C
n.2375G>C
16g.50712302G=CA2221863018NOD2c.2310G= (p.Leu770=)
c.109G=
c.2391G= (p.Leu797=)
c.1887G= (p.Leu629=)
c.1725G= (p.Leu575=)
n.2400G=
c.1818G= (p.Leu606=)
n.2353G=
n.2375G=
16g.50712302G>TCA495779200NOD2c.2310G>T (p.Leu770=)
c.109G>T
c.2391G>T (p.Leu797=)
c.1887G>T (p.Leu629=)
c.1725G>T (p.Leu575=)
n.2400G>T
c.1818G>T (p.Leu606=)
n.2353G>T
n.2375G>T
 gnomAD v4
16g.50712303G>ACA395872083NOD2c.2311G>A (p.Asp771Asn)
c.110G>A
c.2392G>A (p.Asp798Asn)
c.1888G>A (p.Asp630Asn)
c.1726G>A (p.Asp576Asn)
n.2401G>A
c.1819G>A (p.Asp607Asn)
n.2354G>A
n.2376G>A
16g.50712303G>CCA395872085NOD2c.2311G>C (p.Asp771His)
c.110G>C
c.2392G>C (p.Asp798His)
c.1888G>C (p.Asp630His)
c.1726G>C (p.Asp576His)
n.2401G>C
c.1819G>C (p.Asp607His)
n.2354G>C
n.2376G>C
16g.50712303G>TCA395872089NOD2c.2311G>T (p.Asp771Tyr)
c.110G>T
c.2392G>T (p.Asp798Tyr)
c.1888G>T (p.Asp630Tyr)
c.1726G>T (p.Asp576Tyr)
n.2401G>T
c.1819G>T (p.Asp607Tyr)
n.2354G>T
n.2376G>T
 gnomAD v4
16g.50712304A>CCA395872091NOD2c.2312A>C (p.Asp771Ala)
c.111A>C
c.2393A>C (p.Asp798Ala)
c.1889A>C (p.Asp630Ala)
c.1727A>C (p.Asp576Ala)
n.2402A>C
c.1820A>C (p.Asp607Ala)
n.2355A>C
n.2377A>C
16g.50712304A>GCA395872093NOD2c.2312A>G (p.Asp771Gly)
c.111A>G
c.2393A>G (p.Asp798Gly)
c.1889A>G (p.Asp630Gly)
c.1727A>G (p.Asp576Gly)
n.2402A>G
c.1820A>G (p.Asp607Gly)
n.2355A>G
n.2377A>G
16g.50712304A>TCA395872096NOD2c.2312A>T (p.Asp771Val)
c.111A>T
c.2393A>T (p.Asp798Val)
c.1889A>T (p.Asp630Val)
c.1727A>T (p.Asp576Val)
n.2402A>T
c.1820A>T (p.Asp607Val)
n.2355A>T
n.2377A>T
16g.50712305C>ACA395872099NOD2c.2313C>A (p.Asp771Glu)
c.112C>A
c.2394C>A (p.Asp798Glu)
c.1890C>A (p.Asp630Glu)
c.1728C>A (p.Asp576Glu)
n.2403C>A
c.1821C>A (p.Asp607Glu)
n.2356C>A
n.2378C>A
16g.50712305C>GCA395872102NOD2c.2313C>G (p.Asp771Glu)
c.112C>G
c.2394C>G (p.Asp798Glu)
c.1890C>G (p.Asp630Glu)
c.1728C>G (p.Asp576Glu)
n.2403C>G
c.1821C>G (p.Asp607Glu)
n.2356C>G
n.2378C>G
16g.50712305C>TCA495779201NOD2c.2313C>T (p.Asp771=)
c.112C>T
c.2394C>T (p.Asp798=)
c.1890C>T (p.Asp630=)
c.1728C>T (p.Asp576=)
n.2403C>T
c.1821C>T (p.Asp607=)
n.2356C>T
n.2378C>T
16g.50712306T>ACA395872104NOD2c.2314T>A (p.Tyr772Asn)
c.113T>A
c.2395T>A (p.Tyr799Asn)
c.1891T>A (p.Tyr631Asn)
c.1729T>A (p.Tyr577Asn)
n.2404T>A
c.1822T>A (p.Tyr608Asn)
n.2357T>A
n.2379T>A
16g.50712306T>CCA395872106NOD2c.2314T>C (p.Tyr772His)
c.113T>C
c.2395T>C (p.Tyr799His)
c.1891T>C (p.Tyr631His)
c.1729T>C (p.Tyr577His)
n.2404T>C
c.1822T>C (p.Tyr608His)
n.2357T>C
n.2379T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.50712306T>GCA395872109NOD2c.2314T>G (p.Tyr772Asp)
c.113T>G
c.2395T>G (p.Tyr799Asp)
c.1891T>G (p.Tyr631Asp)
c.1729T>G (p.Tyr577Asp)
n.2404T>G
c.1822T>G (p.Tyr608Asp)
n.2357T>G
n.2379T>G
16g.50712306T=CA2221863020NOD2c.2314T= (p.Tyr772=)
c.113T=
c.2395T= (p.Tyr799=)
c.1891T= (p.Tyr631=)
c.1729T= (p.Tyr577=)
n.2404T=
c.1822T= (p.Tyr608=)
n.2357T=
n.2379T=
16g.50712307A=CA2221863022NOD2c.2315A= (p.Tyr772=)
c.114A=
c.2396A= (p.Tyr799=)
c.1892A= (p.Tyr631=)
c.1730A= (p.Tyr577=)
n.2405A=
c.1823A= (p.Tyr608=)
n.2358A=
n.2380A=
16g.50712307A>CCA395872114NOD2c.2315A>C (p.Tyr772Ser)
c.114A>C
c.2396A>C (p.Tyr799Ser)
c.1892A>C (p.Tyr631Ser)
c.1730A>C (p.Tyr577Ser)
n.2405A>C
c.1823A>C (p.Tyr608Ser)
n.2358A>C
n.2380A>C
16g.50712307A>GCA395872117NOD2c.2315A>G (p.Tyr772Cys)
c.114A>G
c.2396A>G (p.Tyr799Cys)
c.1892A>G (p.Tyr631Cys)
c.1730A>G (p.Tyr577Cys)
n.2405A>G
c.1823A>G (p.Tyr608Cys)
n.2358A>G
n.2380A>G
 dbSNP gnomAD v3 gnomAD v4
16g.50712307A>TCA395872112NOD2c.2315A>T (p.Tyr772Phe)
c.114A>T
c.2396A>T (p.Tyr799Phe)
c.1892A>T (p.Tyr631Phe)
c.1730A>T (p.Tyr577Phe)
n.2405A>T
c.1823A>T (p.Tyr608Phe)
n.2358A>T
n.2380A>T
16g.50712308C>ACA395872118NOD2c.2316C>A (p.Tyr772Ter)
c.115C>A
c.2397C>A (p.Tyr799Ter)
c.1893C>A (p.Tyr631Ter)
c.1731C>A (p.Tyr577Ter)
n.2406C>A
c.1824C>A (p.Tyr608Ter)
n.2359C>A
n.2381C>A
16g.50712308C=CA2221863024NOD2c.2316C= (p.Tyr772=)
c.115C=
c.2397C= (p.Tyr799=)
c.1893C= (p.Tyr631=)
c.1731C= (p.Tyr577=)
n.2406C=
c.1824C= (p.Tyr608=)
n.2359C=
n.2381C=
16g.50712308C>GCA395872120NOD2c.2316C>G (p.Tyr772Ter)
c.115C>G
c.2397C>G (p.Tyr799Ter)
c.1893C>G (p.Tyr631Ter)
c.1731C>G (p.Tyr577Ter)
n.2406C>G
c.1824C>G (p.Tyr608Ter)
n.2359C>G
n.2381C>G
16g.50712308C>TCA495779203NOD2c.2316C>T (p.Tyr772=)
c.115C>T
c.2397C>T (p.Tyr799=)
c.1893C>T (p.Tyr631=)
c.1731C>T (p.Tyr577=)
n.2406C>T
c.1824C>T (p.Tyr608=)
n.2359C>T
n.2381C>T
 dbSNP gnomAD v3 gnomAD v4
16g.50712309A>CCA395872124NOD2c.2317A>C (p.Asn773His)
c.116A>C
c.2398A>C (p.Asn800His)
c.1894A>C (p.Asn632His)
c.1732A>C (p.Asn578His)
n.2407A>C
c.1825A>C (p.Asn609His)
n.2360A>C
n.2382A>C
16g.50712309A>GCA395872126NOD2c.2317A>G (p.Asn773Asp)
c.116A>G
c.2398A>G (p.Asn800Asp)
c.1894A>G (p.Asn632Asp)
c.1732A>G (p.Asn578Asp)
n.2407A>G
c.1825A>G (p.Asn609Asp)
n.2360A>G
n.2382A>G
16g.50712309A>TCA395872128NOD2c.2317A>T (p.Asn773Tyr)
c.116A>T
c.2398A>T (p.Asn800Tyr)
c.1894A>T (p.Asn632Tyr)
c.1732A>T (p.Asn578Tyr)
n.2407A>T
c.1825A>T (p.Asn609Tyr)
n.2360A>T
n.2382A>T
16g.50712310A>CCA395872140NOD2c.2318A>C (p.Asn773Thr)
c.117A>C
c.2399A>C (p.Asn800Thr)
c.1895A>C (p.Asn632Thr)
c.1733A>C (p.Asn578Thr)
n.2408A>C
c.1826A>C (p.Asn609Thr)
n.2361A>C
n.2383A>C
16g.50712310A>GCA395872137NOD2c.2318A>G (p.Asn773Ser)
c.117A>G
c.2399A>G (p.Asn800Ser)
c.1895A>G (p.Asn632Ser)
c.1733A>G (p.Asn578Ser)
n.2408A>G
c.1826A>G (p.Asn609Ser)
n.2361A>G
n.2383A>G
16g.50712310A>TCA395872131NOD2c.2318A>T (p.Asn773Ile)
c.117A>T
c.2399A>T (p.Asn800Ile)
c.1895A>T (p.Asn632Ile)
c.1733A>T (p.Asn578Ile)
n.2408A>T
c.1826A>T (p.Asn609Ile)
n.2361A>T
n.2383A>T
16g.50712311C>ACA395872142NOD2c.2319C>A (p.Asn773Lys)
c.118C>A
c.2400C>A (p.Asn800Lys)
c.1896C>A (p.Asn632Lys)
c.1734C>A (p.Asn578Lys)
n.2409C>A
c.1827C>A (p.Asn609Lys)
n.2362C>A
n.2384C>A
 gnomAD v4
16g.50712311C=CA2221863027NOD2c.2319C= (p.Asn773=)
c.118C=
c.2400C= (p.Asn800=)
c.1896C= (p.Asn632=)
c.1734C= (p.Asn578=)
n.2409C=
c.1827C= (p.Asn609=)
n.2362C=
n.2384C=
16g.50712311C>GCA395872144NOD2c.2319C>G (p.Asn773Lys)
c.118C>G
c.2400C>G (p.Asn800Lys)
c.1896C>G (p.Asn632Lys)
c.1734C>G (p.Asn578Lys)
n.2409C>G
c.1827C>G (p.Asn609Lys)
n.2362C>G
n.2384C>G
16g.50712311C>TCA8051766NOD2c.2319C>T (p.Asn773=)
c.118C>T
c.2400C>T (p.Asn800=)
c.1896C>T (p.Asn632=)
c.1734C>T (p.Asn578=)
n.2409C>T
c.1827C>T (p.Asn609=)
n.2362C>T
n.2384C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712312T>ACA395872146NOD2c.2320T>A (p.Ser774Thr)
c.119T>A
c.2401T>A (p.Ser801Thr)
c.1897T>A (p.Ser633Thr)
c.1735T>A (p.Ser579Thr)
n.2410T>A
c.1828T>A (p.Ser610Thr)
n.2363T>A
n.2385T>A
16g.50712312T>CCA395872147NOD2c.2320T>C (p.Ser774Pro)
c.119T>C
c.2401T>C (p.Ser801Pro)
c.1897T>C (p.Ser633Pro)
c.1735T>C (p.Ser579Pro)
n.2410T>C
c.1828T>C (p.Ser610Pro)
n.2363T>C
n.2385T>C
16g.50712312T>GCA395872148NOD2c.2320T>G (p.Ser774Ala)
c.119T>G
c.2401T>G (p.Ser801Ala)
c.1897T>G (p.Ser633Ala)
c.1735T>G (p.Ser579Ala)
n.2410T>G
c.1828T>G (p.Ser610Ala)
n.2363T>G
n.2385T>G
16g.50712313C>ACA395872152NOD2c.2321C>A (p.Ser774Tyr)
c.120C>A
c.2402C>A (p.Ser801Tyr)
c.1898C>A (p.Ser633Tyr)
c.1736C>A (p.Ser579Tyr)
n.2411C>A
c.1829C>A (p.Ser610Tyr)
n.2364C>A
n.2386C>A
16g.50712313C=CA2221863030NOD2c.2321C= (p.Ser774=)
c.120C=
c.2402C= (p.Ser801=)
c.1898C= (p.Ser633=)
c.1736C= (p.Ser579=)
n.2411C=
c.1829C= (p.Ser610=)
n.2364C=
n.2386C=
16g.50712313C>GCA395872149NOD2c.2321C>G (p.Ser774Cys)
c.120C>G
c.2402C>G (p.Ser801Cys)
c.1898C>G (p.Ser633Cys)
c.1736C>G (p.Ser579Cys)
n.2411C>G
c.1829C>G (p.Ser610Cys)
n.2364C>G
n.2386C>G
16g.50712313C>TCA395872151NOD2c.2321C>T (p.Ser774Phe)
c.120C>T
c.2402C>T (p.Ser801Phe)
c.1898C>T (p.Ser633Phe)
c.1736C>T (p.Ser579Phe)
n.2411C>T
c.1829C>T (p.Ser610Phe)
n.2364C>T
n.2386C>T
 dbSNP
16g.50712313_50712315delinsCTGCA2221863029NOD2c.2321_2323delinsCTG (p.Ser774=)
c.120_122delinsCTG
c.2402_2404delinsCTG (p.Ser801=)
c.1898_1900delinsCTG (p.Ser633=)
c.1736_1738delinsCTG (p.Ser579=)
n.2411_2413delinsCTG
c.1829_1831delinsCTG (p.Ser610=)
n.2364_2366delinsCTG
n.2386_2388delinsCTG
16g.50712314T>ACA495779207NOD2c.2322T>A (p.Ser774=)
c.121T>A
c.2403T>A (p.Ser801=)
c.1899T>A (p.Ser633=)
c.1737T>A (p.Ser579=)
n.2412T>A
c.1830T>A (p.Ser610=)
n.2365T>A
n.2387T>A
16g.50712314T>CCA495779209NOD2c.2322T>C (p.Ser774=)
c.121T>C
c.2403T>C (p.Ser801=)
c.1899T>C (p.Ser633=)
c.1737T>C (p.Ser579=)
n.2412T>C
c.1830T>C (p.Ser610=)
n.2365T>C
n.2387T>C
 dbSNP gnomAD v3 gnomAD v4
16g.50712314T>GCA495779208NOD2c.2322T>G (p.Ser774=)
c.121T>G
c.2403T>G (p.Ser801=)
c.1899T>G (p.Ser633=)
c.1737T>G (p.Ser579=)
n.2412T>G
c.1830T>G (p.Ser610=)
n.2365T>G
n.2387T>G
16g.50712314T=CA2221863034NOD2c.2322T= (p.Ser774=)
c.121T=
c.2403T= (p.Ser801=)
c.1899T= (p.Ser633=)
c.1737T= (p.Ser579=)
n.2412T=
c.1830T= (p.Ser610=)
n.2365T=
n.2387T=
16g.50712316_50712317delCA622654315NOD2c.2324_2325del (p.Val775GlyfsTer2)
c.123_124del
c.2405_2406del (p.Val802GlyfsTer2)
c.1901_1902del (p.Val634GlyfsTer2)
c.1739_1740del (p.Val580GlyfsTer2)
n.2414_2415del
c.1832_1833del (p.Val611GlyfsTer2)
n.2367_2368del
n.2389_2390del
 dbSNP gnomAD v2 gnomAD v4
16g.50712315G>ACA395872153NOD2c.2323G>A (p.Val775Met)
c.122G>A
c.2404G>A (p.Val802Met)
c.1900G>A (p.Val634Met)
c.1738G>A (p.Val580Met)
n.2413G>A
c.1831G>A (p.Val611Met)
n.2366G>A
n.2388G>A
 ClinVar dbSNP
16g.50712315G>CCA395872155NOD2c.2323G>C (p.Val775Leu)
c.122G>C
c.2404G>C (p.Val802Leu)
c.1900G>C (p.Val634Leu)
c.1738G>C (p.Val580Leu)
n.2413G>C
c.1831G>C (p.Val611Leu)
n.2366G>C
n.2388G>C
16g.50712315G=CA2221863037NOD2c.2323G= (p.Val775=)
c.122G=
c.2404G= (p.Val802=)
c.1900G= (p.Val634=)
c.1738G= (p.Val580=)
n.2413G=
c.1831G= (p.Val611=)
n.2366G=
n.2388G=
16g.50712315G>TCA395872157NOD2c.2323G>T (p.Val775Leu)
c.122G>T
c.2404G>T (p.Val802Leu)
c.1900G>T (p.Val634Leu)
c.1738G>T (p.Val580Leu)
n.2413G>T
c.1831G>T (p.Val611Leu)
n.2366G>T
n.2388G>T
16g.50712316T>ACA395872160NOD2c.2324T>A (p.Val775Glu)
c.123T>A
c.2405T>A (p.Val802Glu)
c.1901T>A (p.Val634Glu)
c.1739T>A (p.Val580Glu)
n.2414T>A
c.1832T>A (p.Val611Glu)
n.2367T>A
n.2389T>A
16g.50712316T>CCA395872162NOD2c.2324T>C (p.Val775Ala)
c.123T>C
c.2405T>C (p.Val802Ala)
c.1901T>C (p.Val634Ala)
c.1739T>C (p.Val580Ala)
n.2414T>C
c.1832T>C (p.Val611Ala)
n.2367T>C
n.2389T>C
16g.50712316T>GCA395872163NOD2c.2324T>G (p.Val775Gly)
c.123T>G
c.2405T>G (p.Val802Gly)
c.1901T>G (p.Val634Gly)
c.1739T>G (p.Val580Gly)
n.2414T>G
c.1832T>G (p.Val611Gly)
n.2367T>G
n.2389T>G
16g.50712317G>ACA495456154NOD2c.2325G>A (p.Val775=)
c.124G>A
c.2406G>A (p.Val802=)
c.1902G>A (p.Val634=)
c.1740G>A (p.Val580=)
n.2415G>A
c.1833G>A (p.Val611=)
n.2368G>A
n.2390G>A
16g.50712317G>CCA495456157NOD2c.2325G>C (p.Val775=)
c.124G>C
c.2406G>C (p.Val802=)
c.1902G>C (p.Val634=)
c.1740G>C (p.Val580=)
n.2415G>C
c.1833G>C (p.Val611=)
n.2368G>C
n.2390G>C
 dbSNP gnomAD v2 gnomAD v4
16g.50712317G=CA2221863042NOD2c.2325G= (p.Val775=)
c.124G=
c.2406G= (p.Val802=)
c.1902G= (p.Val634=)
c.1740G= (p.Val580=)
n.2415G=
c.1833G= (p.Val611=)
n.2368G=
n.2390G=
16g.50712317G>TCA150268NOD2c.2325G>T (p.Val775=)
c.124G>T
c.2406G>T (p.Val802=)
c.1902G>T (p.Val634=)
c.1740G>T (p.Val580=)
n.2415G>T
c.1833G>T (p.Val611=)
n.2368G>T
n.2390G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712318G>ACA395872167NOD2c.2326G>A (p.Gly776Ser)
c.125G>A
c.2407G>A (p.Gly803Ser)
c.1903G>A (p.Gly635Ser)
c.1741G>A (p.Gly581Ser)
n.2416G>A
c.1834G>A (p.Gly612Ser)
n.2369G>A
n.2391G>A
16g.50712318G>CCA395872169NOD2c.2326G>C (p.Gly776Arg)
c.125G>C
c.2407G>C (p.Gly803Arg)
c.1903G>C (p.Gly635Arg)
c.1741G>C (p.Gly581Arg)
n.2416G>C
c.1834G>C (p.Gly612Arg)
n.2369G>C
n.2391G>C
 gnomAD v4
16g.50712318G=CA2221863046NOD2c.2326G= (p.Gly776=)
c.125G=
c.2407G= (p.Gly803=)
c.1903G= (p.Gly635=)
c.1741G= (p.Gly581=)
n.2416G=
c.1834G= (p.Gly612=)
n.2369G=
n.2391G=
16g.50712318G>TCA281264529NOD2c.2326G>T (p.Gly776Cys)
c.125G>T
c.2407G>T (p.Gly803Cys)
c.1903G>T (p.Gly635Cys)
c.1741G>T (p.Gly581Cys)
n.2416G>T
c.1834G>T (p.Gly612Cys)
n.2369G>T
n.2391G>T
 dbSNP
16g.50712319G>ACA395872171NOD2c.2327G>A (p.Gly776Asp)
c.126G>A
c.2408G>A (p.Gly803Asp)
c.1904G>A (p.Gly635Asp)
c.1742G>A (p.Gly581Asp)
n.2417G>A
c.1835G>A (p.Gly612Asp)
n.2370G>A
n.2392G>A
 dbSNP gnomAD v4
16g.50712319G>CCA395872173NOD2c.2327G>C (p.Gly776Ala)
c.126G>C
c.2408G>C (p.Gly803Ala)
c.1904G>C (p.Gly635Ala)
c.1742G>C (p.Gly581Ala)
n.2417G>C
c.1835G>C (p.Gly612Ala)
n.2370G>C
n.2392G>C
16g.50712319G=CA2221863049NOD2c.2327G= (p.Gly776=)
c.126G=
c.2408G= (p.Gly803=)
c.1904G= (p.Gly635=)
c.1742G= (p.Gly581=)
n.2417G=
c.1835G= (p.Gly612=)
n.2370G=
n.2392G=
16g.50712319G>TCA395872174NOD2c.2327G>T (p.Gly776Val)
c.126G>T
c.2408G>T (p.Gly803Val)
c.1904G>T (p.Gly635Val)
c.1742G>T (p.Gly581Val)
n.2417G>T
c.1835G>T (p.Gly612Val)
n.2370G>T
n.2392G>T
16g.50712320T>ACA495456174NOD2c.2328T>A (p.Gly776=)
c.127T>A
c.2409T>A (p.Gly803=)
c.1905T>A (p.Gly635=)
c.1743T>A (p.Gly581=)
n.2418T>A
c.1836T>A (p.Gly612=)
n.2371T>A
n.2393T>A
16g.50712320T>CCA495456175NOD2c.2328T>C (p.Gly776=)
c.127T>C
c.2409T>C (p.Gly803=)
c.1905T>C (p.Gly635=)
c.1743T>C (p.Gly581=)
n.2418T>C
c.1836T>C (p.Gly612=)
n.2371T>C
n.2393T>C
16g.50712320T>GCA495456176NOD2c.2328T>G (p.Gly776=)
c.127T>G
c.2409T>G (p.Gly803=)
c.1905T>G (p.Gly635=)
c.1743T>G (p.Gly581=)
n.2418T>G
c.1836T>G (p.Gly612=)
n.2371T>G
n.2393T>G
16g.50712321G>ACA395872179NOD2c.2329G>A (p.Asp777Asn)
c.128G>A
c.2410G>A (p.Asp804Asn)
c.1906G>A (p.Asp636Asn)
c.1744G>A (p.Asp582Asn)
n.2419G>A
c.1837G>A (p.Asp613Asn)
n.2372G>A
n.2394G>A
 dbSNP gnomAD v2
16g.50712321G>CCA395872175NOD2c.2329G>C (p.Asp777His)
c.128G>C
c.2410G>C (p.Asp804His)
c.1906G>C (p.Asp636His)
c.1744G>C (p.Asp582His)
n.2419G>C
c.1837G>C (p.Asp613His)
n.2372G>C
n.2394G>C
16g.50712321G=CA2221863051NOD2c.2329G= (p.Asp777=)
c.128G=
c.2410G= (p.Asp804=)
c.1906G= (p.Asp636=)
c.1744G= (p.Asp582=)
n.2419G=
c.1837G= (p.Asp613=)
n.2372G=
n.2394G=
16g.50712321G>TCA395872177NOD2c.2329G>T (p.Asp777Tyr)
c.128G>T
c.2410G>T (p.Asp804Tyr)
c.1906G>T (p.Asp636Tyr)
c.1744G>T (p.Asp582Tyr)
n.2419G>T
c.1837G>T (p.Asp613Tyr)
n.2372G>T
n.2394G>T
16g.50712322A>CCA395872180NOD2c.2330A>C (p.Asp777Ala)
c.129A>C
c.2411A>C (p.Asp804Ala)
c.1907A>C (p.Asp636Ala)
c.1745A>C (p.Asp582Ala)
n.2420A>C
c.1838A>C (p.Asp613Ala)
n.2373A>C
n.2395A>C
16g.50712322A>GCA395872182NOD2c.2330A>G (p.Asp777Gly)
c.129A>G
c.2411A>G (p.Asp804Gly)
c.1907A>G (p.Asp636Gly)
c.1745A>G (p.Asp582Gly)
n.2420A>G
c.1838A>G (p.Asp613Gly)
n.2373A>G
n.2395A>G
16g.50712322A>TCA395872184NOD2c.2330A>T (p.Asp777Val)
c.129A>T
c.2411A>T (p.Asp804Val)
c.1907A>T (p.Asp636Val)
c.1745A>T (p.Asp582Val)
n.2420A>T
c.1838A>T (p.Asp613Val)
n.2373A>T
n.2395A>T
16g.50712323C>ACA395872187NOD2c.2331C>A (p.Asp777Glu)
c.130C>A
c.2412C>A (p.Asp804Glu)
c.1908C>A (p.Asp636Glu)
c.1746C>A (p.Asp582Glu)
n.2421C>A
c.1839C>A (p.Asp613Glu)
n.2374C>A
n.2396C>A
16g.50712323C>GCA395872189NOD2c.2331C>G (p.Asp777Glu)
c.130C>G
c.2412C>G (p.Asp804Glu)
c.1908C>G (p.Asp636Glu)
c.1746C>G (p.Asp582Glu)
n.2421C>G
c.1839C>G (p.Asp613Glu)
n.2374C>G
n.2396C>G
16g.50712323C>TCA495456190NOD2c.2331C>T (p.Asp777=)
c.130C>T
c.2412C>T (p.Asp804=)
c.1908C>T (p.Asp636=)
c.1746C>T (p.Asp582=)
n.2421C>T
c.1839C>T (p.Asp613=)
n.2374C>T
n.2396C>T
16g.50712324A>CCA395872191NOD2c.2332A>C (p.Ile778Leu)
c.131A>C
c.2413A>C (p.Ile805Leu)
c.1909A>C (p.Ile637Leu)
c.1747A>C (p.Ile583Leu)
n.2422A>C
c.1840A>C (p.Ile614Leu)
n.2375A>C
n.2397A>C
16g.50712324A>GCA395872193NOD2c.2332A>G (p.Ile778Val)
c.131A>G
c.2413A>G (p.Ile805Val)
c.1909A>G (p.Ile637Val)
c.1747A>G (p.Ile583Val)
n.2422A>G
c.1840A>G (p.Ile614Val)
n.2375A>G
n.2397A>G
 gnomAD v4
16g.50712324A>TCA395872195NOD2c.2332A>T (p.Ile778Phe)
c.131A>T
c.2413A>T (p.Ile805Phe)
c.1909A>T (p.Ile637Phe)
c.1747A>T (p.Ile583Phe)
n.2422A>T
c.1840A>T (p.Ile614Phe)
n.2375A>T
n.2397A>T
16g.50712325T>ACA395872197NOD2c.2333T>A (p.Ile778Asn)
c.132T>A
c.2414T>A (p.Ile805Asn)
c.1910T>A (p.Ile637Asn)
c.1748T>A (p.Ile583Asn)
n.2423T>A
c.1841T>A (p.Ile614Asn)
n.2376T>A
n.2398T>A
16g.50712325T>CCA8051767NOD2c.2333T>C (p.Ile778Thr)
c.132T>C
c.2414T>C (p.Ile805Thr)
c.1910T>C (p.Ile637Thr)
c.1748T>C (p.Ile583Thr)
n.2423T>C
c.1841T>C (p.Ile614Thr)
n.2376T>C
n.2398T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712325T>GCA395872199NOD2c.2333T>G (p.Ile778Ser)
c.132T>G
c.2414T>G (p.Ile805Ser)
c.1910T>G (p.Ile637Ser)
c.1748T>G (p.Ile583Ser)
n.2423T>G
c.1841T>G (p.Ile614Ser)
n.2376T>G
n.2398T>G
16g.50712325T=CA2221863054NOD2c.2333T= (p.Ile778=)
c.132T=
c.2414T= (p.Ile805=)
c.1910T= (p.Ile637=)
c.1748T= (p.Ile583=)
n.2423T=
c.1841T= (p.Ile614=)
n.2376T=
n.2398T=
16g.50712326T>ACA495456204NOD2c.2334T>A (p.Ile778=)
c.133T>A
c.2415T>A (p.Ile805=)
c.1911T>A (p.Ile637=)
c.1749T>A (p.Ile583=)
n.2424T>A
c.1842T>A (p.Ile614=)
n.2377T>A
n.2399T>A
16g.50712326T>CCA495456207NOD2c.2334T>C (p.Ile778=)
c.133T>C
c.2415T>C (p.Ile805=)
c.1911T>C (p.Ile637=)
c.1749T>C (p.Ile583=)
n.2424T>C
c.1842T>C (p.Ile614=)
n.2377T>C
n.2399T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.50712326T>GCA395872203NOD2c.2334T>G (p.Ile778Met)
c.133T>G
c.2415T>G (p.Ile805Met)
c.1911T>G (p.Ile637Met)
c.1749T>G (p.Ile583Met)
n.2424T>G
c.1842T>G (p.Ile614Met)
n.2377T>G
n.2399T>G
16g.50712326T=CA2221863058NOD2c.2334T= (p.Ile778=)
c.133T=
c.2415T= (p.Ile805=)
c.1911T= (p.Ile637=)
c.1749T= (p.Ile583=)
n.2424T=
c.1842T= (p.Ile614=)
n.2377T=
n.2399T=
16g.50712327G>ACA395872205NOD2c.2335G>A (p.Gly779Ser)
c.134G>A
c.2416G>A (p.Gly806Ser)
c.1912G>A (p.Gly638Ser)
c.1750G>A (p.Gly584Ser)
n.2425G>A
c.1843G>A (p.Gly615Ser)
n.2378G>A
n.2400G>A
16g.50712327G>CCA395872207NOD2c.2335G>C (p.Gly779Arg)
c.134G>C
c.2416G>C (p.Gly806Arg)
c.1912G>C (p.Gly638Arg)
c.1750G>C (p.Gly584Arg)
n.2425G>C
c.1843G>C (p.Gly615Arg)
n.2378G>C
n.2400G>C
 gnomAD v4
16g.50712327G>TCA395872209NOD2c.2335G>T (p.Gly779Cys)
c.134G>T
c.2416G>T (p.Gly806Cys)
c.1912G>T (p.Gly638Cys)
c.1750G>T (p.Gly584Cys)
n.2425G>T
c.1843G>T (p.Gly615Cys)
n.2378G>T
n.2400G>T
16g.50712328G>ACA395872211NOD2c.2336G>A (p.Gly779Asp)
c.135G>A
c.2417G>A (p.Gly806Asp)
c.1913G>A (p.Gly638Asp)
c.1751G>A (p.Gly584Asp)
n.2426G>A
c.1844G>A (p.Gly615Asp)
n.2379G>A
n.2401G>A
16g.50712328G>CCA395872215NOD2c.2336G>C (p.Gly779Ala)
c.135G>C
c.2417G>C (p.Gly806Ala)
c.1913G>C (p.Gly638Ala)
c.1751G>C (p.Gly584Ala)
n.2426G>C
c.1844G>C (p.Gly615Ala)
n.2379G>C
n.2401G>C
16g.50712328G>TCA395872214NOD2c.2336G>T (p.Gly779Val)
c.135G>T
c.2417G>T (p.Gly806Val)
c.1913G>T (p.Gly638Val)
c.1751G>T (p.Gly584Val)
n.2426G>T
c.1844G>T (p.Gly615Val)
n.2379G>T
n.2401G>T
 ClinVar dbSNP gnomAD v4
16g.50712329C>ACA495456223NOD2c.2337C>A (p.Gly779=)
c.136C>A
c.2418C>A (p.Gly806=)
c.1914C>A (p.Gly638=)
c.1752C>A (p.Gly584=)
n.2427C>A
c.1845C>A (p.Gly615=)
n.2380C>A
n.2402C>A
16g.50712329C=CA2221863063NOD2c.2337C= (p.Gly779=)
c.136C=
c.2418C= (p.Gly806=)
c.1914C= (p.Gly638=)
c.1752C= (p.Gly584=)
n.2427C=
c.1845C= (p.Gly615=)
n.2380C=
n.2402C=
16g.50712329C>GCA230149NOD2c.2337C>G (p.Gly779=)
c.136C>G
c.2418C>G (p.Gly806=)
c.1914C>G (p.Gly638=)
c.1752C>G (p.Gly584=)
n.2427C>G
c.1845C>G (p.Gly615=)
n.2380C>G
n.2402C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.50712329C>TCA8051768NOD2c.2337C>T (p.Gly779=)
c.136C>T
c.2418C>T (p.Gly806=)
c.1914C>T (p.Gly638=)
c.1752C>T (p.Gly584=)
n.2427C>T
c.1845C>T (p.Gly615=)
n.2380C>T
n.2402C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712330G>ACA8051769NOD2c.2338G>A (p.Val780Met)
c.137G>A
c.2419G>A (p.Val807Met)
c.1915G>A (p.Val639Met)
c.1753G>A (p.Val585Met)
n.2428G>A
c.1846G>A (p.Val616Met)
n.2381G>A
n.2403G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.50712330G>CCA395872219NOD2c.2338G>C (p.Val780Leu)
c.137G>C
c.2419G>C (p.Val807Leu)
c.1915G>C (p.Val639Leu)
c.1753G>C (p.Val585Leu)
n.2428G>C
c.1846G>C (p.Val616Leu)
n.2381G>C
n.2403G>C
16g.50712330G=CA2221863069NOD2c.2338G= (p.Val780=)
c.137G=
c.2419G= (p.Val807=)
c.1915G= (p.Val639=)
c.1753G= (p.Val585=)
n.2428G=
c.1846G= (p.Val616=)
n.2381G=
n.2403G=
16g.50712330G>TCA395872222NOD2c.2338G>T (p.Val780Leu)
c.137G>T
c.2419G>T (p.Val807Leu)
c.1915G>T (p.Val639Leu)
c.1753G>T (p.Val585Leu)
n.2428G>T
c.1846G>T (p.Val616Leu)
n.2381G>T
n.2403G>T
16g.50712331T>ACA395872224NOD2c.2339T>A (p.Val780Glu)
c.138T>A
c.2420T>A (p.Val807Glu)
c.1916T>A (p.Val639Glu)
c.1754T>A (p.Val585Glu)
n.2429T>A
c.1847T>A (p.Val616Glu)
n.2382T>A
n.2404T>A
16g.50712331T>CCA395872227NOD2c.2339T>C (p.Val780Ala)
c.138T>C
c.2420T>C (p.Val807Ala)
c.1916T>C (p.Val639Ala)
c.1754T>C (p.Val585Ala)
n.2429T>C
c.1847T>C (p.Val616Ala)
n.2382T>C
n.2404T>C
16g.50712331T>GCA395872229NOD2c.2339T>G (p.Val780Gly)
c.138T>G
c.2420T>G (p.Val807Gly)
c.1916T>G (p.Val639Gly)
c.1754T>G (p.Val585Gly)
n.2429T>G
c.1847T>G (p.Val616Gly)
n.2382T>G
n.2404T>G
16g.50712332G>ACA495456240NOD2c.2340G>A (p.Val780=)
c.139G>A
c.2421G>A (p.Val807=)
c.1917G>A (p.Val639=)
c.1755G>A (p.Val585=)
n.2430G>A
c.1848G>A (p.Val616=)
n.2383G>A
n.2405G>A
16g.50712332G>CCA495456243NOD2c.2340G>C (p.Val780=)
c.139G>C
c.2421G>C (p.Val807=)
c.1917G>C (p.Val639=)
c.1755G>C (p.Val585=)
n.2430G>C
c.1848G>C (p.Val616=)
n.2383G>C
n.2405G>C
16g.50712332G>TCA495456245NOD2c.2340G>T (p.Val780=)
c.139G>T
c.2421G>T (p.Val807=)
c.1917G>T (p.Val639=)
c.1755G>T (p.Val585=)
n.2430G>T
c.1848G>T (p.Val616=)
n.2383G>T
n.2405G>T
16g.50712333G>ACA395872232NOD2c.2341G>A (p.Glu781Lys)
c.140G>A
c.2422G>A (p.Glu808Lys)
c.1918G>A (p.Glu640Lys)
c.1756G>A (p.Glu586Lys)
n.2431G>A
c.1849G>A (p.Glu617Lys)
n.2384G>A
n.2406G>A
16g.50712333G>CCA395872234NOD2c.2341G>C (p.Glu781Gln)
c.140G>C
c.2422G>C (p.Glu808Gln)
c.1918G>C (p.Glu640Gln)
c.1756G>C (p.Glu586Gln)
n.2431G>C
c.1849G>C (p.Glu617Gln)
n.2384G>C
n.2406G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.50712333G=CA2221863075NOD2c.2341G= (p.Glu781=)
c.140G=
c.2422G= (p.Glu808=)
c.1918G= (p.Glu640=)
c.1756G= (p.Glu586=)
n.2431G=
c.1849G= (p.Glu617=)
n.2384G=
n.2406G=
16g.50712333G>TCA395872236NOD2c.2341G>T (p.Glu781Ter)
c.140G>T
c.2422G>T (p.Glu808Ter)
c.1918G>T (p.Glu640Ter)
c.1756G>T (p.Glu586Ter)
n.2431G>T
c.1849G>T (p.Glu617Ter)
n.2384G>T
n.2406G>T
16g.50712334A>CCA395872238NOD2c.2342A>C (p.Glu781Ala)
c.141A>C
c.2423A>C (p.Glu808Ala)
c.1919A>C (p.Glu640Ala)
c.1757A>C (p.Glu586Ala)
n.2432A>C
c.1850A>C (p.Glu617Ala)
n.2385A>C
n.2407A>C
16g.50712334A>GCA395872241NOD2c.2342A>G (p.Glu781Gly)
c.141A>G
c.2423A>G (p.Glu808Gly)
c.1919A>G (p.Glu640Gly)
c.1757A>G (p.Glu586Gly)
n.2432A>G
c.1850A>G (p.Glu617Gly)
n.2385A>G
n.2407A>G
16g.50712334A>TCA395872240NOD2c.2342A>T (p.Glu781Val)
c.141A>T
c.2423A>T (p.Glu808Val)
c.1919A>T (p.Glu640Val)
c.1757A>T (p.Glu586Val)
n.2432A>T
c.1850A>T (p.Glu617Val)
n.2385A>T
n.2407A>T
16g.50712335G>ACA495456261NOD2c.2343G>A (p.Glu781=)
c.142G>A
c.2424G>A (p.Glu808=)
c.1920G>A (p.Glu640=)
c.1758G>A (p.Glu586=)
n.2433G>A
c.1851G>A (p.Glu617=)
n.2386G>A
n.2408G>A
 gnomAD v4
16g.50712335G>CCA395872243NOD2c.2343G>C (p.Glu781Asp)
c.142G>C
c.2424G>C (p.Glu808Asp)
c.1920G>C (p.Glu640Asp)
c.1758G>C (p.Glu586Asp)
n.2433G>C
c.1851G>C (p.Glu617Asp)
n.2386G>C
n.2408G>C
16g.50712335G>TCA395872245NOD2c.2343G>T (p.Glu781Asp)
c.142G>T
c.2424G>T (p.Glu808Asp)
c.1920G>T (p.Glu640Asp)
c.1758G>T (p.Glu586Asp)
n.2433G>T
c.1851G>T (p.Glu617Asp)
n.2386G>T
n.2408G>T
16g.50712336C>ACA395872247NOD2c.2344C>A (p.Gln782Lys)
c.143C>A
c.2425C>A (p.Gln809Lys)
c.1921C>A (p.Gln641Lys)
c.1759C>A (p.Gln587Lys)
n.2434C>A
c.1852C>A (p.Gln618Lys)
n.2387C>A
n.2409C>A
16g.50712336C>GCA395872249NOD2c.2344C>G (p.Gln782Glu)
c.143C>G
c.2425C>G (p.Gln809Glu)
c.1921C>G (p.Gln641Glu)
c.1759C>G (p.Gln587Glu)
n.2434C>G
c.1852C>G (p.Gln618Glu)
n.2387C>G
n.2409C>G
16g.50712336C>TCA395872251NOD2c.2344C>T (p.Gln782Ter)
c.143C>T
c.2425C>T (p.Gln809Ter)
c.1921C>T (p.Gln641Ter)
c.1759C>T (p.Gln587Ter)
n.2434C>T
c.1852C>T (p.Gln618Ter)
n.2387C>T
n.2409C>T
16g.50712337A=CA2221863078NOD2c.2345A= (p.Gln782=)
c.144A=
c.2426A= (p.Gln809=)
c.1922A= (p.Gln641=)
c.1760A= (p.Gln587=)
n.2435A=
c.1853A= (p.Gln618=)
n.2388A=
n.2410A=
16g.50712337A>CCA395872254NOD2c.2345A>C (p.Gln782Pro)
c.144A>C
c.2426A>C (p.Gln809Pro)
c.1922A>C (p.Gln641Pro)
c.1760A>C (p.Gln587Pro)
n.2435A>C
c.1853A>C (p.Gln618Pro)
n.2388A>C
n.2410A>C
16g.50712337A>GCA281264558NOD2c.2345A>G (p.Gln782Arg)
c.144A>G
c.2426A>G (p.Gln809Arg)
c.1922A>G (p.Gln641Arg)
c.1760A>G (p.Gln587Arg)
n.2435A>G
c.1853A>G (p.Gln618Arg)
n.2388A>G
n.2410A>G
 dbSNP
16g.50712337A>TCA395872256NOD2c.2345A>T (p.Gln782Leu)
c.144A>T
c.2426A>T (p.Gln809Leu)
c.1922A>T (p.Gln641Leu)
c.1760A>T (p.Gln587Leu)
n.2435A>T
c.1853A>T (p.Gln618Leu)
n.2388A>T
n.2410A>T
16g.50712338G>ACA495456286NOD2c.2346G>A (p.Gln782=)
c.145G>A
c.2427G>A (p.Gln809=)
c.1923G>A (p.Gln641=)
c.1761G>A (p.Gln587=)
n.2436G>A
c.1854G>A (p.Gln618=)
n.2389G>A
n.2411G>A
16g.50712338G>CCA395872259NOD2c.2346G>C (p.Gln782His)
c.145G>C
c.2427G>C (p.Gln809His)
c.1923G>C (p.Gln641His)
c.1761G>C (p.Gln587His)
n.2436G>C
c.1854G>C (p.Gln618His)
n.2389G>C
n.2411G>C
 dbSNP gnomAD v3 gnomAD v4
16g.50712338G=CA2221863082NOD2c.2346G= (p.Gln782=)
c.145G=
c.2427G= (p.Gln809=)
c.1923G= (p.Gln641=)
c.1761G= (p.Gln587=)
n.2436G=
c.1854G= (p.Gln618=)
n.2389G=
n.2411G=
16g.50712338G>TCA395872260NOD2c.2346G>T (p.Gln782His)
c.145G>T
c.2427G>T (p.Gln809His)
c.1923G>T (p.Gln641His)
c.1761G>T (p.Gln587His)
n.2436G>T
c.1854G>T (p.Gln618His)
n.2389G>T
n.2411G>T
16g.50712340_50712350delCA2633164856NOD2c.2348_2358del (p.Leu783ProfsTer12)
c.2348_2358del (p.Leu783ProfsTer21)
c.147_157del
c.2429_2439del (p.Leu810ProfsTer12)
c.2348_2358del (p.Leu783ProfsTer17)
c.1925_1935del (p.Leu642ProfsTer12)
c.1763_1773del (p.Leu588ProfsTer12)
c.2348_2358del (p.Leu783ProfsTer?)
c.2348_2358del (p.Leu783ProfsTer24)
n.2438_2448del
c.1856_1866del (p.Leu619ProfsTer12)
n.2391_2401del
n.2413_2423del
 gnomAD v4
16g.50712339C>ACA395872262NOD2c.2347C>A (p.Leu783Met)
c.146C>A
c.2428C>A (p.Leu810Met)
c.1924C>A (p.Leu642Met)
c.1762C>A (p.Leu588Met)
n.2437C>A
c.1855C>A (p.Leu619Met)
n.2390C>A
n.2412C>A
16g.50712339C>GCA395872263NOD2c.2347C>G (p.Leu783Val)
c.146C>G
c.2428C>G (p.Leu810Val)
c.1924C>G (p.Leu642Val)
c.1762C>G (p.Leu588Val)
n.2437C>G
c.1855C>G (p.Leu619Val)
n.2390C>G
n.2412C>G
16g.50712339C>TCA495456291NOD2c.2347C>T (p.Leu783=)
c.146C>T
c.2428C>T (p.Leu810=)
c.1924C>T (p.Leu642=)
c.1762C>T (p.Leu588=)
n.2437C>T
c.1855C>T (p.Leu619=)
n.2390C>T
n.2412C>T
16g.50712340T>ACA395872266NOD2c.2348T>A (p.Leu783Gln)
c.147T>A
c.2429T>A (p.Leu810Gln)
c.1925T>A (p.Leu642Gln)
c.1763T>A (p.Leu588Gln)
n.2438T>A
c.1856T>A (p.Leu619Gln)
n.2391T>A
n.2413T>A
16g.50712340T>CCA395872268NOD2c.2348T>C (p.Leu783Pro)
c.147T>C
c.2429T>C (p.Leu810Pro)
c.1925T>C (p.Leu642Pro)
c.1763T>C (p.Leu588Pro)
n.2438T>C
c.1856T>C (p.Leu619Pro)
n.2391T>C
n.2413T>C
16g.50712340T>GCA395872270NOD2c.2348T>G (p.Leu783Arg)
c.147T>G
c.2429T>G (p.Leu810Arg)
c.1925T>G (p.Leu642Arg)
c.1763T>G (p.Leu588Arg)
n.2438T>G
c.1856T>G (p.Leu619Arg)
n.2391T>G
n.2413T>G
16g.50712341G>ACA495456300NOD2c.2349G>A (p.Leu783=)
c.148G>A
c.2430G>A (p.Leu810=)
c.1926G>A (p.Leu642=)
c.1764G>A (p.Leu588=)
n.2439G>A
c.1857G>A (p.Leu619=)
n.2392G>A
n.2414G>A
 dbSNP gnomAD v2 gnomAD v4
16g.50712341G>CCA495456303NOD2c.2349G>C (p.Leu783=)
c.148G>C
c.2430G>C (p.Leu810=)
c.1926G>C (p.Leu642=)
c.1764G>C (p.Leu588=)
n.2439G>C
c.1857G>C (p.Leu619=)
n.2392G>C
n.2414G>C
16g.50712341G=CA2221863087NOD2c.2349G= (p.Leu783=)
c.148G=
c.2430G= (p.Leu810=)
c.1926G= (p.Leu642=)
c.1764G= (p.Leu588=)
n.2439G=
c.1857G= (p.Leu619=)
n.2392G=
n.2414G=
16g.50712341G>TCA495456302NOD2c.2349G>T (p.Leu783=)
c.148G>T
c.2430G>T (p.Leu810=)
c.1926G>T (p.Leu642=)
c.1764G>T (p.Leu588=)
n.2439G>T
c.1857G>T (p.Leu619=)
n.2392G>T
n.2414G>T
16g.50712342C>ACA395872274NOD2c.2350C>A (p.Leu784Met)
c.149C>A
c.2431C>A (p.Leu811Met)
c.1927C>A (p.Leu643Met)
c.1765C>A (p.Leu589Met)
n.2440C>A
c.1858C>A (p.Leu620Met)
n.2393C>A
n.2415C>A
16g.50712342C=CA2221863090NOD2c.2350C= (p.Leu784=)
c.149C=
c.2431C= (p.Leu811=)
c.1927C= (p.Leu643=)
c.1765C= (p.Leu589=)
n.2440C=
c.1858C= (p.Leu620=)
n.2393C=
n.2415C=
16g.50712342C>GCA395872272NOD2c.2350C>G (p.Leu784Val)
c.149C>G
c.2431C>G (p.Leu811Val)
c.1927C>G (p.Leu643Val)
c.1765C>G (p.Leu589Val)
n.2440C>G
c.1858C>G (p.Leu620Val)
n.2393C>G
n.2415C>G
16g.50712342C>TCA495456311NOD2c.2350C>T (p.Leu784=)
c.149C>T
c.2431C>T (p.Leu811=)
c.1927C>T (p.Leu643=)
c.1765C>T (p.Leu589=)
n.2440C>T
c.1858C>T (p.Leu620=)
n.2393C>T
n.2415C>T
 dbSNP
16g.50712343T>ACA395872277NOD2c.2351T>A (p.Leu784Gln)
c.150T>A
c.2432T>A (p.Leu811Gln)
c.1928T>A (p.Leu643Gln)
c.1766T>A (p.Leu589Gln)
n.2441T>A
c.1859T>A (p.Leu620Gln)
n.2394T>A
n.2416T>A
16g.50712343T>CCA395872278NOD2c.2351T>C (p.Leu784Pro)
c.150T>C
c.2432T>C (p.Leu811Pro)
c.1928T>C (p.Leu643Pro)
c.1766T>C (p.Leu589Pro)
n.2441T>C
c.1859T>C (p.Leu620Pro)
n.2394T>C
n.2416T>C
 COSMIC
16g.50712343T>GCA395872280NOD2c.2351T>G (p.Leu784Arg)
c.150T>G
c.2432T>G (p.Leu811Arg)
c.1928T>G (p.Leu643Arg)
c.1766T>G (p.Leu589Arg)
n.2441T>G
c.1859T>G (p.Leu620Arg)
n.2394T>G
n.2416T>G
16g.50712344G>ACA495456318NOD2c.2352G>A (p.Leu784=)
c.151G>A
c.2433G>A (p.Leu811=)
c.1929G>A (p.Leu643=)
c.1767G>A (p.Leu589=)
n.2442G>A
c.1860G>A (p.Leu620=)
n.2395G>A
n.2417G>A
 gnomAD v4
16g.50712344G>CCA495456320NOD2c.2352G>C (p.Leu784=)
c.151G>C
c.2433G>C (p.Leu811=)
c.1929G>C (p.Leu643=)
c.1767G>C (p.Leu589=)
n.2442G>C
c.1860G>C (p.Leu620=)
n.2395G>C
n.2417G>C
16g.50712344G>TCA495456322NOD2c.2352G>T (p.Leu784=)
c.151G>T
c.2433G>T (p.Leu811=)
c.1929G>T (p.Leu643=)
c.1767G>T (p.Leu589=)
n.2442G>T
c.1860G>T (p.Leu620=)
n.2395G>T
n.2417G>T
16g.50712345C>ACA395872282NOD2c.2353C>A (p.Pro785Thr)
c.152C>A
c.2434C>A (p.Pro812Thr)
c.1930C>A (p.Pro644Thr)
c.1768C>A (p.Pro590Thr)
n.2443C>A
c.1861C>A (p.Pro621Thr)
n.2396C>A
n.2418C>A
16g.50712345C=CA2221863096NOD2c.2353C= (p.Pro785=)
c.152C=
c.2434C= (p.Pro812=)
c.1930C= (p.Pro644=)
c.1768C= (p.Pro590=)
n.2443C=
c.1861C= (p.Pro621=)
n.2396C=
n.2418C=
16g.50712345C>GCA395872284NOD2c.2353C>G (p.Pro785Ala)
c.152C>G
c.2434C>G (p.Pro812Ala)
c.1930C>G (p.Pro644Ala)
c.1768C>G (p.Pro590Ala)
n.2443C>G
c.1861C>G (p.Pro621Ala)
n.2396C>G
n.2418C>G
16g.50712345C>TCA281264561NOD2c.2353C>T (p.Pro785Ser)
c.152C>T
c.2434C>T (p.Pro812Ser)
c.1930C>T (p.Pro644Ser)
c.1768C>T (p.Pro590Ser)
n.2443C>T
c.1861C>T (p.Pro621Ser)
n.2396C>T
n.2418C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.50712346C>ACA395872286NOD2c.2354C>A (p.Pro785His)
c.153C>A
c.2435C>A (p.Pro812His)
c.1931C>A (p.Pro644His)
c.1769C>A (p.Pro590His)
n.2444C>A
c.1862C>A (p.Pro621His)
n.2397C>A
n.2419C>A
16g.50712346C>GCA395872287NOD2c.2354C>G (p.Pro785Arg)
c.153C>G
c.2435C>G (p.Pro812Arg)
c.1931C>G (p.Pro644Arg)
c.1769C>G (p.Pro590Arg)
n.2444C>G
c.1862C>G (p.Pro621Arg)
n.2397C>G
n.2419C>G
16g.50712346C>TCA395872288NOD2c.2354C>T (p.Pro785Leu)
c.153C>T
c.2435C>T (p.Pro812Leu)
c.1931C>T (p.Pro644Leu)
c.1769C>T (p.Pro590Leu)
n.2444C>T
c.1862C>T (p.Pro621Leu)
n.2397C>T
n.2419C>T
16g.50712347T>ACA495456335NOD2c.2355T>A (p.Pro785=)
c.154T>A
c.2436T>A (p.Pro812=)
c.1932T>A (p.Pro644=)
c.1770T>A (p.Pro590=)
n.2445T>A
c.1863T>A (p.Pro621=)
n.2398T>A
n.2420T>A
16g.50712347T>CCA495456339NOD2c.2355T>C (p.Pro785=)
c.154T>C
c.2436T>C (p.Pro812=)
c.1932T>C (p.Pro644=)
c.1770T>C (p.Pro590=)
n.2445T>C
c.1863T>C (p.Pro621=)
n.2398T>C
n.2420T>C
16g.50712347T>GCA495456340NOD2c.2355T>G (p.Pro785=)
c.154T>G
c.2436T>G (p.Pro812=)
c.1932T>G (p.Pro644=)
c.1770T>G (p.Pro590=)
n.2445T>G
c.1863T>G (p.Pro621=)
n.2398T>G
n.2420T>G
16g.50712348T>ACA395872291NOD2c.2356T>A (p.Cys786Ser)
c.155T>A
c.2437T>A (p.Cys813Ser)
c.1933T>A (p.Cys645Ser)
c.1771T>A (p.Cys591Ser)
n.2446T>A
c.1864T>A (p.Cys622Ser)
n.2399T>A
n.2421T>A
16g.50712348T>CCA395872293NOD2c.2356T>C (p.Cys786Arg)
c.155T>C
c.2437T>C (p.Cys813Arg)
c.1933T>C (p.Cys645Arg)
c.1771T>C (p.Cys591Arg)
n.2446T>C
c.1864T>C (p.Cys622Arg)
n.2399T>C
n.2421T>C
16g.50712348T>GCA395872294NOD2c.2356T>G (p.Cys786Gly)
c.155T>G
c.2437T>G (p.Cys813Gly)
c.1933T>G (p.Cys645Gly)
c.1771T>G (p.Cys591Gly)
n.2446T>G
c.1864T>G (p.Cys622Gly)
n.2399T>G
n.2421T>G
16g.50712349G>ACA395872300NOD2c.2357G>A (p.Cys786Tyr)
c.156G>A
c.2438G>A (p.Cys813Tyr)
c.1934G>A (p.Cys645Tyr)
c.1772G>A (p.Cys591Tyr)
n.2447G>A
c.1865G>A (p.Cys622Tyr)
n.2400G>A
n.2422G>A
 gnomAD v4
16g.50712349G>CCA395872299NOD2c.2357G>C (p.Cys786Ser)
c.156G>C
c.2438G>C (p.Cys813Ser)
c.1934G>C (p.Cys645Ser)
c.1772G>C (p.Cys591Ser)
n.2447G>C
c.1865G>C (p.Cys622Ser)
n.2400G>C
n.2422G>C
 COSMIC
16g.50712349G>TCA395872297NOD2c.2357G>T (p.Cys786Phe)
c.156G>T
c.2438G>T (p.Cys813Phe)
c.1934G>T (p.Cys645Phe)
c.1772G>T (p.Cys591Phe)
n.2447G>T
c.1865G>T (p.Cys622Phe)
n.2400G>T
n.2422G>T
16g.50712350C>ACA395872302NOD2c.2358C>A (p.Cys786Ter)
c.157C>A
c.2439C>A (p.Cys813Ter)
c.1935C>A (p.Cys645Ter)
c.1773C>A (p.Cys591Ter)
n.2448C>A
c.1866C>A (p.Cys622Ter)
n.2401C>A
n.2423C>A
16g.50712350C>GCA395872303NOD2c.2358C>G (p.Cys786Trp)
c.157C>G
c.2439C>G (p.Cys813Trp)
c.1935C>G (p.Cys645Trp)
c.1773C>G (p.Cys591Trp)
n.2448C>G
c.1866C>G (p.Cys622Trp)
n.2401C>G
n.2423C>G
16g.50712350C>TCA495456354NOD2c.2358C>T (p.Cys786=)
c.157C>T
c.2439C>T (p.Cys813=)
c.1935C>T (p.Cys645=)
c.1773C>T (p.Cys591=)
n.2448C>T
c.1866C>T (p.Cys622=)
n.2401C>T
n.2423C>T
16g.50712351C>ACA395872306NOD2c.2359C>A (p.Leu787Ile)
c.158C>A
c.2440C>A (p.Leu814Ile)
c.1936C>A (p.Leu646Ile)
c.1774C>A (p.Leu592Ile)
n.2449C>A
c.1867C>A (p.Leu623Ile)
n.2402C>A
n.2424C>A
16g.50712351C=CA2221863103NOD2c.2359C= (p.Leu787=)
c.158C=
c.2440C= (p.Leu814=)
c.1936C= (p.Leu646=)
c.1774C= (p.Leu592=)
n.2449C=
c.1867C= (p.Leu623=)
n.2402C=
n.2424C=
16g.50712351C>GCA395872307NOD2c.2359C>G (p.Leu787Val)
c.158C>G
c.2440C>G (p.Leu814Val)
c.1936C>G (p.Leu646Val)
c.1774C>G (p.Leu592Val)
n.2449C>G
c.1867C>G (p.Leu623Val)
n.2402C>G
n.2424C>G
 dbSNP
16g.50712351C>TCA395872309NOD2c.2359C>T (p.Leu787Phe)
c.158C>T
c.2440C>T (p.Leu814Phe)
c.1936C>T (p.Leu646Phe)
c.1774C>T (p.Leu592Phe)
n.2449C>T
c.1867C>T (p.Leu623Phe)
n.2402C>T
n.2424C>T
16g.50712352T>ACA395872315NOD2c.2360T>A (p.Leu787His)
c.159T>A
c.2441T>A (p.Leu814His)
c.1937T>A (p.Leu646His)
c.1775T>A (p.Leu592His)
n.2450T>A
c.1868T>A (p.Leu623His)
n.2403T>A
n.2425T>A
16g.50712352T>CCA395872313NOD2c.2360T>C (p.Leu787Pro)
c.159T>C
c.2441T>C (p.Leu814Pro)
c.1937T>C (p.Leu646Pro)
c.1775T>C (p.Leu592Pro)
n.2450T>C
c.1868T>C (p.Leu623Pro)
n.2403T>C
n.2425T>C
16g.50712352T>GCA395872311NOD2c.2360T>G (p.Leu787Arg)
c.159T>G
c.2441T>G (p.Leu814Arg)
c.1937T>G (p.Leu646Arg)
c.1775T>G (p.Leu592Arg)
n.2450T>G
c.1868T>G (p.Leu623Arg)
n.2403T>G
n.2425T>G
16g.50712353T>ACA495456366NOD2c.2361T>A (p.Leu787=)
c.160T>A
c.2442T>A (p.Leu814=)
c.1938T>A (p.Leu646=)
c.1776T>A (p.Leu592=)
n.2451T>A
c.1869T>A (p.Leu623=)
n.2404T>A
n.2426T>A
16g.50712353T>CCA495456368NOD2c.2361T>C (p.Leu787=)
c.160T>C
c.2442T>C (p.Leu814=)
c.1938T>C (p.Leu646=)
c.1776T>C (p.Leu592=)
n.2451T>C
c.1869T>C (p.Leu623=)
n.2404T>C
n.2426T>C
16g.50712353T>GCA495456370NOD2c.2361T>G (p.Leu787=)
c.160T>G
c.2442T>G (p.Leu814=)
c.1938T>G (p.Leu646=)
c.1776T>G (p.Leu592=)
n.2451T>G
c.1869T>G (p.Leu623=)
n.2404T>G
n.2426T>G
16g.50712354G>ACA395872317NOD2c.2362G>A (p.Gly788Ser)
c.161G>A
c.2443G>A (p.Gly815Ser)
c.1939G>A (p.Gly647Ser)
c.1777G>A (p.Gly593Ser)
n.2452G>A
c.1870G>A (p.Gly624Ser)
n.2405G>A
n.2427G>A
16g.50712354G>CCA395872319NOD2c.2362G>C (p.Gly788Arg)
c.161G>C
c.2443G>C (p.Gly815Arg)
c.1939G>C (p.Gly647Arg)
c.1777G>C (p.Gly593Arg)
n.2452G>C
c.1870G>C (p.Gly624Arg)
n.2405G>C
n.2427G>C
16g.50712354G>TCA395872320NOD2c.2362G>T (p.Gly788Cys)
c.161G>T
c.2443G>T (p.Gly815Cys)
c.1939G>T (p.Gly647Cys)
c.1777G>T (p.Gly593Cys)
n.2452G>T
c.1870G>T (p.Gly624Cys)
n.2405G>T
n.2427G>T
16g.50712355G>ACA395872321NOD2c.2363G>A (p.Gly788Asp)
c.162G>A
c.2444G>A (p.Gly815Asp)
c.1940G>A (p.Gly647Asp)
c.1778G>A (p.Gly593Asp)
n.2453G>A
c.1871G>A (p.Gly624Asp)
n.2406G>A
n.2428G>A
16g.50712355G>CCA395872322NOD2c.2363G>C (p.Gly788Ala)
c.162G>C
c.2444G>C (p.Gly815Ala)
c.1940G>C (p.Gly647Ala)
c.1778G>C (p.Gly593Ala)
n.2453G>C
c.1871G>C (p.Gly624Ala)
n.2406G>C
n.2428G>C
16g.50712355G=CA2221863106NOD2c.2363G= (p.Gly788=)
c.162G=
c.2444G= (p.Gly815=)
c.1940G= (p.Gly647=)
c.1778G= (p.Gly593=)
n.2453G=
c.1871G= (p.Gly624=)
n.2406G=
n.2428G=
16g.50712355G>TCA395872323NOD2c.2363G>T (p.Gly788Val)
c.162G>T
c.2444G>T (p.Gly815Val)
c.1940G>T (p.Gly647Val)
c.1778G>T (p.Gly593Val)
n.2453G>T
c.1871G>T (p.Gly624Val)
n.2406G>T
n.2428G>T
 ClinVar dbSNP
16g.50712356T>ACA495456382NOD2c.2364T>A (p.Gly788=)
c.163T>A
c.2445T>A (p.Gly815=)
c.1941T>A (p.Gly647=)
c.1779T>A (p.Gly593=)
n.2454T>A
c.1872T>A (p.Gly624=)
n.2407T>A
n.2429T>A
16g.50712356T>CCA495456384NOD2c.2364T>C (p.Gly788=)
c.163T>C
c.2445T>C (p.Gly815=)
c.1941T>C (p.Gly647=)
c.1779T>C (p.Gly593=)
n.2454T>C
c.1872T>C (p.Gly624=)
n.2407T>C
n.2429T>C
16g.50712356T>GCA495456386NOD2c.2364T>G (p.Gly788=)
c.163T>G
c.2445T>G (p.Gly815=)
c.1941T>G (p.Gly647=)
c.1779T>G (p.Gly593=)
n.2454T>G
c.1872T>G (p.Gly624=)
n.2407T>G
n.2429T>G
16g.50712357G>ACA10590109NOD2c.2365G>A (p.Val789Ile)
c.164G>A
c.2446G>A (p.Val816Ile)
c.1942G>A (p.Val648Ile)
c.1780G>A (p.Val594Ile)
n.2455G>A
c.1873G>A (p.Val625Ile)
n.2408G>A
n.2430G>A
 ClinVar dbSNP gnomAD v4
16g.50712357G>CCA395872325NOD2c.2365G>C (p.Val789Leu)
c.164G>C
c.2446G>C (p.Val816Leu)
c.1942G>C (p.Val648Leu)
c.1780G>C (p.Val594Leu)
n.2455G>C
c.1873G>C (p.Val625Leu)
n.2408G>C
n.2430G>C
16g.50712357G=CA2221863111NOD2c.2365G= (p.Val789=)
c.164G=
c.2446G= (p.Val816=)
c.1942G= (p.Val648=)
c.1780G= (p.Val594=)
n.2455G=
c.1873G= (p.Val625=)
n.2408G=
n.2430G=
16g.50712357G>TCA395872324NOD2c.2365G>T (p.Val789Phe)
c.164G>T
c.2446G>T (p.Val816Phe)
c.1942G>T (p.Val648Phe)
c.1780G>T (p.Val594Phe)
n.2455G>T
c.1873G>T (p.Val625Phe)
n.2408G>T
n.2430G>T

Number of alleles fetched