Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.50712254_50712316del | CA2633164737 | NOD2 | c.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 |
16 | g.50712262T>A | CA395871939 | NOD2 | c.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 | |
16 | g.50712262T>C | CA395871941 | NOD2 | c.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 | |
16 | g.50712262T>G | CA395871943 | NOD2 | c.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 | |
16 | g.50712263T>A | CA395871944 | NOD2 | c.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 | |
16 | g.50712263T>C | CA495779147 | NOD2 | c.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 | |
16 | g.50712263T>G | CA395871945 | NOD2 | c.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 | |
16 | g.50712264G>A | CA395871947 | NOD2 | c.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 |
16 | g.50712264G>C | CA395871948 | NOD2 | c.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 | |
16 | g.50712264G= | CA2221862937 | NOD2 | c.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= | |
16 | g.50712264G>T | CA395871950 | NOD2 | c.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 | |
16 | g.50712265T>A | CA395871952 | NOD2 | c.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 |
16 | g.50712265T>C | CA395871956 | NOD2 | c.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 | |
16 | g.50712265T>G | CA395871954 | NOD2 | c.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 | |
16 | g.50712266G>A | CA495779150 | NOD2 | c.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 |
16 | g.50712266G>C | CA495779152 | NOD2 | c.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 | |
16 | g.50712266G= | CA2221862939 | NOD2 | c.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= | |
16 | g.50712266G>T | CA495779151 | NOD2 | c.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 | |
16 | g.50712267C>A | CA395871958 | NOD2 | c.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 | |
16 | g.50712267C= | CA2221862943 | NOD2 | c.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= | |
16 | g.50712267C>G | CA8051756 | NOD2 | c.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 |
16 | g.50712267C>T | CA495779155 | NOD2 | c.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 | |
16 | g.50712268T>A | CA395871961 | NOD2 | c.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 | |
16 | g.50712268T>C | CA395871962 | NOD2 | c.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 | |
16 | g.50712268T>G | CA395871964 | NOD2 | c.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 |
16 | g.50712269G>A | CA495779157 | NOD2 | c.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 | |
16 | g.50712269G>C | CA495779158 | NOD2 | c.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 | |
16 | g.50712269G>T | CA495779159 | NOD2 | c.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 | |
16 | g.50712270C>A | CA395871965 | NOD2 | c.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 | |
16 | g.50712270C>G | CA395871966 | NOD2 | c.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 | |
16 | g.50712270C>T | CA395871967 | NOD2 | c.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 |
16 | g.50712271A= | CA2221862947 | NOD2 | c.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= | |
16 | g.50712271A>C | CA395871969 | NOD2 | c.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 | |
16 | g.50712271A>G | CA395871970 | NOD2 | c.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 |
16 | g.50712271A>T | CA395871972 | NOD2 | c.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 | |
16 | g.50712272G>A | CA495779162 | NOD2 | c.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 | |
16 | g.50712272G>C | CA395871975 | NOD2 | c.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 | |
16 | g.50712272G>T | CA395871974 | NOD2 | c.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 | |
16 | g.50712273C>A | CA395871976 | NOD2 | c.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 | |
16 | g.50712273C>G | CA395871977 | NOD2 | c.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 | |
16 | g.50712273C>T | CA395871978 | NOD2 | c.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 | |
16 | g.50712274A= | CA2221862950 | NOD2 | c.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= | |
16 | g.50712274A>C | CA395871980 | NOD2 | c.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 | |
16 | g.50712274A>G | CA281264451 | NOD2 | c.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 |
16 | g.50712274A>T | CA395871982 | NOD2 | c.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 | |
16 | g.50712275C>A | CA8051757 | NOD2 | c.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 |
16 | g.50712275C= | CA2221862956 | NOD2 | c.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= | |
16 | g.50712275C>G | CA395871984 | NOD2 | c.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 | |
16 | g.50712275C>T | CA8051758 | NOD2 | c.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 |
16 | g.50712276C>A | CA395871985 | NOD2 | c.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 | |
16 | g.50712276C= | CA2221862959 | NOD2 | c.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= | |
16 | g.50712276C>G | CA395871986 | NOD2 | c.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 | |
16 | g.50712276C>T | CA8051759 | NOD2 | c.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 |
16 | g.50712277T>A | CA395871992 | NOD2 | c.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 | |
16 | g.50712277T>C | CA395871996 | NOD2 | c.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 | |
16 | g.50712277T>G | CA395871989 | NOD2 | c.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 | |
16 | g.50712278C>A | CA495779166 | NOD2 | c.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 | |
16 | g.50712278C= | CA2221862962 | NOD2 | c.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= | |
16 | g.50712278C>G | CA8051760 | NOD2 | c.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 |
16 | g.50712278C>T | CA495779167 | NOD2 | c.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 |
16 | g.50712279C>A | CA495779168 | NOD2 | c.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 | |
16 | g.50712279C= | CA2221862965 | NOD2 | c.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= | |
16 | g.50712279C>G | CA395871998 | NOD2 | c.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 | |
16 | g.50712279C>T | CA8051761 | NOD2 | c.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 |
16 | g.50712280G>A | CA8051762 | NOD2 | c.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 |
16 | g.50712280G>C | CA395872000 | NOD2 | c.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 | |
16 | g.50712280G= | CA2221862969 | NOD2 | c.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= | |
16 | g.50712280G>T | CA395872002 | NOD2 | c.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 |
16 | g.50712281G>A | CA495779171 | NOD2 | c.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 |
16 | g.50712281G>C | CA495779170 | NOD2 | c.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 | |
16 | g.50712281G>T | CA495779169 | NOD2 | c.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 | |
16 | g.50712282C>A | CA495779172 | NOD2 | c.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 | |
16 | g.50712282C= | CA2221862973 | NOD2 | c.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= | |
16 | g.50712282C>G | CA395872004 | NOD2 | c.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 |
16 | g.50712282C>T | CA150259 | NOD2 | c.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 |
16 | g.50712283G>A | CA150262 | NOD2 | c.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 |
16 | g.50712283G>C | CA395872008 | NOD2 | c.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 | |
16 | g.50712283G= | CA2221862977 | NOD2 | c.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= | |
16 | g.50712283G>T | CA395872011 | NOD2 | c.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 | |
16 | g.50712284del | CA2633164767 | NOD2 | c.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 |
16 | g.50712284G>A | CA495779173 | NOD2 | c.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 | |
16 | g.50712284G>C | CA495779175 | NOD2 | c.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 | |
16 | g.50712284G= | CA2221862981 | NOD2 | c.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= | |
16 | g.50712284G>T | CA495779176 | NOD2 | c.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 |
16 | g.50712285C>A | CA395872013 | NOD2 | c.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 | |
16 | g.50712285C>G | CA395872014 | NOD2 | c.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 | |
16 | g.50712285C>T | CA395872015 | NOD2 | c.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 | |
16 | g.50712286C>A | CA395872018 | NOD2 | c.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 |
16 | g.50712286C= | CA2221862987 | NOD2 | c.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= | |
16 | g.50712286C>G | CA395872016 | NOD2 | c.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 |
16 | g.50712286C>T | CA395872017 | NOD2 | c.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 | |
16 | g.50712287C>A | CA495779178 | NOD2 | c.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 | |
16 | g.50712287C= | CA2221862993 | NOD2 | c.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= | |
16 | g.50712287C>G | CA495779177 | NOD2 | c.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 | |
16 | g.50712287C>T | CA8051763 | NOD2 | c.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 |
16 | g.50712288G>A | CA150265 | NOD2 | c.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 |
16 | g.50712288G>C | CA395872022 | NOD2 | c.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 |
16 | g.50712288G= | CA2221862998 | NOD2 | c.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= | |
16 | g.50712288G>T | CA395872024 | NOD2 | c.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 |
16 | g.50712289T>A | CA395872026 | NOD2 | c.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 | |
16 | g.50712289T>C | CA395872028 | NOD2 | c.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 |
16 | g.50712289T>G | CA395872030 | NOD2 | c.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 |
16 | g.50712289T= | CA2221863003 | NOD2 | c.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= | |
16 | g.50712290G>A | CA8051764 | NOD2 | c.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 |
16 | g.50712290G>C | CA495779181 | NOD2 | c.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 | |
16 | g.50712290G= | CA2221863006 | NOD2 | c.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= | |
16 | g.50712290G>T | CA495779182 | NOD2 | c.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 | |
16 | g.50712291dup | CA2841591002 | NOD2 | c.2299dup (p.Ala767GlyfsTer11) c.98dup c.2380dup (p.Ala794GlyfsTer11) c.1876dup (p.Ala626GlyfsTer11) c.1714dup (p.Ala572GlyfsTer11) n.2389dup c.1807dup (p.Ala603GlyfsTer11) n.2342dup n.2364dup | |
16 | g.50712291G>A | CA281264511 | NOD2 | c.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 |
16 | g.50712291G>C | CA395872033 | NOD2 | c.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 | |
16 | g.50712291G= | CA2221863009 | NOD2 | c.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= | |
16 | g.50712291G>T | CA395872035 | NOD2 | c.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 | |
16 | g.50712292C>A | CA395872043 | NOD2 | c.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 | |
16 | g.50712292C>G | CA395872041 | NOD2 | c.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 | |
16 | g.50712292C>T | CA395872038 | NOD2 | c.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 |
16 | g.50712293C>A | CA495779186 | NOD2 | c.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 |
16 | g.50712293C>G | CA495779184 | NOD2 | c.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 | |
16 | g.50712293C>T | CA495779185 | NOD2 | c.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 |
16 | g.50712294C>A | CA395872045 | NOD2 | c.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 | |
16 | g.50712294C>G | CA395872046 | NOD2 | c.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 | |
16 | g.50712294C>T | CA495779187 | NOD2 | c.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 |
16 | g.50712295T>A | CA395872047 | NOD2 | c.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 | |
16 | g.50712295T>C | CA395872048 | NOD2 | c.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 | |
16 | g.50712295T>G | CA395872050 | NOD2 | c.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 | |
16 | g.50712296G>A | CA495779188 | NOD2 | c.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 |
16 | g.50712296G>C | CA495779189 | NOD2 | c.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 |
16 | g.50712296G= | CA2221863011 | NOD2 | c.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= | |
16 | g.50712296G>T | CA495779190 | NOD2 | c.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 | |
16 | g.50712297C>A | CA395872052 | NOD2 | c.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 | |
16 | g.50712297C= | CA2221863013 | NOD2 | c.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= | |
16 | g.50712297C>G | CA395872055 | NOD2 | c.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 | |
16 | g.50712297C>T | CA8051765 | NOD2 | c.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 |
16 | g.50712298A= | CA2221863016 | NOD2 | c.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= | |
16 | g.50712298A>C | CA395872059 | NOD2 | c.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 |
16 | g.50712298A>G | CA395872061 | NOD2 | c.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 | |
16 | g.50712298A>T | CA395872064 | NOD2 | c.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 | |
16 | g.50712299G>A | CA495779194 | NOD2 | c.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 |
16 | g.50712299G>C | CA395872066 | NOD2 | c.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 | |
16 | g.50712299G>T | CA395872068 | NOD2 | c.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 | |
16 | g.50712300C>A | CA395872073 | NOD2 | c.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 | |
16 | g.50712300C>G | CA395872071 | NOD2 | c.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 | |
16 | g.50712300C>T | CA495779195 | NOD2 | c.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 | |
16 | g.50712301T>A | CA395872076 | NOD2 | c.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 | |
16 | g.50712301T>C | CA395872078 | NOD2 | c.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 | |
16 | g.50712301T>G | CA395872080 | NOD2 | c.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 | |
16 | g.50712302G>A | CA495779198 | NOD2 | c.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 |
16 | g.50712302G>C | CA495779199 | NOD2 | c.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 | |
16 | g.50712302G= | CA2221863018 | NOD2 | c.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= | |
16 | g.50712302G>T | CA495779200 | NOD2 | c.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 |
16 | g.50712303dup | CA2841591003 | NOD2 | c.2311dup (p.Asp771GlyfsTer7) c.110dup c.2392dup (p.Asp798GlyfsTer7) c.1888dup (p.Asp630GlyfsTer7) c.1726dup (p.Asp576GlyfsTer7) n.2401dup c.1819dup (p.Asp607GlyfsTer7) n.2354dup n.2376dup | |
16 | g.50712302_50712303insCTCCAC | CA2841591004 | NOD2 | c.2310_2311insCTCCAC (p.Leu770_Asp771insLeuHis) c.109_110insCTCCAC c.2391_2392insCTCCAC (p.Leu797_Asp798insLeuHis) c.1887_1888insCTCCAC (p.Leu629_Asp630insLeuHis) c.1725_1726insCTCCAC (p.Leu575_Asp576insLeuHis) n.2400_2401insCTCCAC c.1818_1819insCTCCAC (p.Leu606_Asp607insLeuHis) n.2353_2354insCTCCAC n.2375_2376insCTCCAC | |
16 | g.50712303G>A | CA395872083 | NOD2 | c.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 | |
16 | g.50712303G>C | CA395872085 | NOD2 | c.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 | |
16 | g.50712303G>T | CA395872089 | NOD2 | c.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 |
16 | g.50712303_50712304insCCAATGTC | CA2841591005 | NOD2 | c.2311_2312insCCAATGTC (p.Asp771AlafsTer?) c.110_111insCCAATGTC c.2392_2393insCCAATGTC (p.Asp798AlafsTer?) c.1888_1889insCCAATGTC (p.Asp630AlafsTer?) c.1726_1727insCCAATGTC (p.Asp576AlafsTer?) n.2401_2402insCCAATGTC c.1819_1820insCCAATGTC (p.Asp607AlafsTer?) n.2354_2355insCCAATGTC n.2376_2377insCCAATGTC | |
16 | g.50712304A>C | CA395872091 | NOD2 | c.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 | |
16 | g.50712304A>G | CA395872093 | NOD2 | c.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 | |
16 | g.50712304A>T | CA395872096 | NOD2 | c.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 | |
16 | g.50712305C>A | CA395872099 | NOD2 | c.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 | |
16 | g.50712305C>G | CA395872102 | NOD2 | c.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 | |
16 | g.50712305C>T | CA495779201 | NOD2 | c.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 | |
16 | g.50712305_50712306insCCACAGAGTTG | CA2838307276 | NOD2 | c.2313_2314insCCACAGAGTTG (p.Tyr772ProfsTer?) c.112_113insCCACAGAGTTG c.2394_2395insCCACAGAGTTG (p.Tyr799ProfsTer?) c.1890_1891insCCACAGAGTTG (p.Tyr631ProfsTer?) c.1728_1729insCCACAGAGTTG (p.Tyr577ProfsTer?) n.2403_2404insCCACAGAGTTG c.1821_1822insCCACAGAGTTG (p.Tyr608ProfsTer?) n.2356_2357insCCACAGAGTTG n.2378_2379insCCACAGAGTTG | |
16 | g.50712306T>A | CA395872104 | NOD2 | c.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 | |
16 | g.50712306T>C | CA395872106 | NOD2 | c.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 |
16 | g.50712306T>G | CA395872109 | NOD2 | c.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 | |
16 | g.50712306T= | CA2221863020 | NOD2 | c.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= | |
16 | g.50712307A= | CA2221863022 | NOD2 | c.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= | |
16 | g.50712307A>C | CA395872114 | NOD2 | c.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 | |
16 | g.50712307A>G | CA395872117 | NOD2 | c.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 |
16 | g.50712307A>T | CA395872112 | NOD2 | c.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 | |
16 | g.50712308C>A | CA395872118 | NOD2 | c.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 | |
16 | g.50712308C= | CA2221863024 | NOD2 | c.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= | |
16 | g.50712308C>G | CA395872120 | NOD2 | c.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 | |
16 | g.50712308C>T | CA495779203 | NOD2 | c.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 |
16 | g.50712309A>C | CA395872124 | NOD2 | c.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 | |
16 | g.50712309A>G | CA395872126 | NOD2 | c.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 | |
16 | g.50712309A>T | CA395872128 | NOD2 | c.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 | |
16 | g.50712310A>C | CA395872140 | NOD2 | c.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 | |
16 | g.50712310A>G | CA395872137 | NOD2 | c.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 | |
16 | g.50712310A>T | CA395872131 | NOD2 | c.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 | |
16 | g.50712311C>A | CA395872142 | NOD2 | c.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 |
16 | g.50712311C= | CA2221863027 | NOD2 | c.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= | |
16 | g.50712311C>G | CA395872144 | NOD2 | c.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 | |
16 | g.50712311C>T | CA8051766 | NOD2 | c.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 |
16 | g.50712312T>A | CA395872146 | NOD2 | c.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 | |
16 | g.50712312T>C | CA395872147 | NOD2 | c.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 | |
16 | g.50712312T>G | CA395872148 | NOD2 | c.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 | |
16 | g.50712313C>A | CA395872152 | NOD2 | c.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 | |
16 | g.50712313C= | CA2221863030 | NOD2 | c.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= | |
16 | g.50712313C>G | CA395872149 | NOD2 | c.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 | |
16 | g.50712313C>T | CA395872151 | NOD2 | c.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 |
16 | g.50712313_50712315delinsCTG | CA2221863029 | NOD2 | c.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 | |
16 | g.50712314T>A | CA495779207 | NOD2 | c.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 | |
16 | g.50712314T>C | CA495779209 | NOD2 | c.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 |
16 | g.50712314T>G | CA495779208 | NOD2 | c.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 | |
16 | g.50712314T= | CA2221863034 | NOD2 | c.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= | |
16 | g.50712316_50712317del | CA622654315 | NOD2 | c.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 |
16 | g.50712315G>A | CA395872153 | NOD2 | c.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 |
16 | g.50712315G>C | CA395872155 | NOD2 | c.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 | |
16 | g.50712315G= | CA2221863037 | NOD2 | c.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= | |
16 | g.50712315G>T | CA395872157 | NOD2 | c.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 | |
16 | g.50712316T>A | CA395872160 | NOD2 | c.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 | |
16 | g.50712316T>C | CA395872162 | NOD2 | c.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 | |
16 | g.50712316T>G | CA395872163 | NOD2 | c.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 | |
16 | g.50712317G>A | CA495456154 | NOD2 | c.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 | |
16 | g.50712317G>C | CA495456157 | NOD2 | c.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 |
16 | g.50712317G= | CA2221863042 | NOD2 | c.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= | |
16 | g.50712317G>T | CA150268 | NOD2 | c.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 |
16 | g.50712318G>A | CA395872167 | NOD2 | c.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 | |
16 | g.50712318G>C | CA395872169 | NOD2 | c.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 |
16 | g.50712318G= | CA2221863046 | NOD2 | c.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= | |
16 | g.50712318G>T | CA281264529 | NOD2 | c.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 |
16 | g.50712319G>A | CA395872171 | NOD2 | c.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 |
16 | g.50712319G>C | CA395872173 | NOD2 | c.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 | |
16 | g.50712319G= | CA2221863049 | NOD2 | c.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= | |
16 | g.50712319G>T | CA395872174 | NOD2 | c.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 | |
16 | g.50712320T>A | CA495456174 | NOD2 | c.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 | |
16 | g.50712320T>C | CA495456175 | NOD2 | c.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 | |
16 | g.50712320T>G | CA495456176 | NOD2 | c.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 | |
16 | g.50712321G>A | CA395872179 | NOD2 | c.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 |
16 | g.50712321G>C | CA395872175 | NOD2 | c.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 | |
16 | g.50712321G= | CA2221863051 | NOD2 | c.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= | |
16 | g.50712321G>T | CA395872177 | NOD2 | c.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 | |
16 | g.50712322A>C | CA395872180 | NOD2 | c.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 | |
16 | g.50712322A>G | CA395872182 | NOD2 | c.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 | |
16 | g.50712322A>T | CA395872184 | NOD2 | c.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 | |
16 | g.50712323C>A | CA395872187 | NOD2 | c.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 | |
16 | g.50712323C>G | CA395872189 | NOD2 | c.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 | |
16 | g.50712323C>T | CA495456190 | NOD2 | c.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 | |
16 | g.50712324A>C | CA395872191 | NOD2 | c.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 | |
16 | g.50712324A>G | CA395872193 | NOD2 | c.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 |
16 | g.50712324A>T | CA395872195 | NOD2 | c.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 | |
16 | g.50712325T>A | CA395872197 | NOD2 | c.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 | |
16 | g.50712325T>C | CA8051767 | NOD2 | c.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 |
16 | g.50712325T>G | CA395872199 | NOD2 | c.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 | |
16 | g.50712325T= | CA2221863054 | NOD2 | c.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= | |
16 | g.50712326T>A | CA495456204 | NOD2 | c.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 | |
16 | g.50712326T>C | CA495456207 | NOD2 | c.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 |
16 | g.50712326T>G | CA395872203 | NOD2 | c.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 | |
16 | g.50712326T= | CA2221863058 | NOD2 | c.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= | |
16 | g.50712327G>A | CA395872205 | NOD2 | c.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 | |
16 | g.50712327G>C | CA395872207 | NOD2 | c.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 |
16 | g.50712327G>T | CA395872209 | NOD2 | c.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 | |
16 | g.50712328G>A | CA395872211 | NOD2 | c.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 | |
16 | g.50712328G>C | CA395872215 | NOD2 | c.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 | |
16 | g.50712328G>T | CA395872214 | NOD2 | c.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 |
16 | g.50712329C>A | CA495456223 | NOD2 | c.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 | |
16 | g.50712329C= | CA2221863063 | NOD2 | c.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= | |
16 | g.50712329C>G | CA230149 | NOD2 | c.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 |
16 | g.50712329C>T | CA8051768 | NOD2 | c.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 |
16 | g.50712330G>A | CA8051769 | NOD2 | c.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 |
16 | g.50712330G>C | CA395872219 | NOD2 | c.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 | |
16 | g.50712330G= | CA2221863069 | NOD2 | c.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= | |
16 | g.50712330G>T | CA395872222 | NOD2 | c.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 | |
16 | g.50712331T>A | CA395872224 | NOD2 | c.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 | |
16 | g.50712331T>C | CA395872227 | NOD2 | c.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 | |
16 | g.50712331T>G | CA395872229 | NOD2 | c.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 | |
16 | g.50712332G>A | CA495456240 | NOD2 | c.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 | |
16 | g.50712332G>C | CA495456243 | NOD2 | c.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 | |
16 | g.50712332G>T | CA495456245 | NOD2 | c.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 | |
16 | g.50712333G>A | CA395872232 | NOD2 | c.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 | |
16 | g.50712333G>C | CA395872234 | NOD2 | c.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 |
16 | g.50712333G= | CA2221863075 | NOD2 | c.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= | |
16 | g.50712333G>T | CA395872236 | NOD2 | c.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 | |
16 | g.50712333_50712334insC | CA2838307269 | NOD2 | c.2341_2342insC (p.Glu781AlafsTer18) c.2341_2342insC (p.Glu781AlafsTer27) c.140_141insC c.2422_2423insC (p.Glu808AlafsTer18) c.2341_2342insC (p.Glu781AlafsTer23) c.1918_1919insC (p.Glu640AlafsTer18) c.1756_1757insC (p.Glu586AlafsTer18) c.2341_2342insC (p.Glu781AlafsTer?) c.2341_2342insC (p.Glu781AlafsTer30) n.2431_2432insC c.1849_1850insC (p.Glu617AlafsTer18) n.2384_2385insC n.2406_2407insC | |
16 | g.50712334A>C | CA395872238 | NOD2 | c.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 | |
16 | g.50712334A>G | CA395872241 | NOD2 | c.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 | |
16 | g.50712334A>T | CA395872240 | NOD2 | c.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 | |
16 | g.50712335G>A | CA495456261 | NOD2 | c.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 |
16 | g.50712335G>C | CA395872243 | NOD2 | c.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 | |
16 | g.50712335G>T | CA395872245 | NOD2 | c.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 | |
16 | g.50712336C>A | CA395872247 | NOD2 | c.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 | |
16 | g.50712336C>G | CA395872249 | NOD2 | c.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 | |
16 | g.50712336C>T | CA395872251 | NOD2 | c.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 | |
16 | g.50712337A= | CA2221863078 | NOD2 | c.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= | |
16 | g.50712337A>C | CA395872254 | NOD2 | c.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 | |
16 | g.50712337A>G | CA281264558 | NOD2 | c.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 |
16 | g.50712337A>T | CA395872256 | NOD2 | c.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 | |
16 | g.50712338G>A | CA495456286 | NOD2 | c.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 | |
16 | g.50712338G>C | CA395872259 | NOD2 | c.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 |
16 | g.50712338G= | CA2221863082 | NOD2 | c.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= | |
16 | g.50712338G>T | CA395872260 | NOD2 | c.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 | |
16 | g.50712338dup | CA2839357675 | NOD2 | c.2346dup (p.Leu783AlafsTer16) c.2346dup (p.Leu783AlafsTer25) c.145dup c.2427dup (p.Leu810AlafsTer16) c.2346dup (p.Leu783AlafsTer21) c.1923dup (p.Leu642AlafsTer16) c.1761dup (p.Leu588AlafsTer16) c.2346dup (p.Leu783AlafsTer?) c.2346dup (p.Leu783AlafsTer28) n.2436dup c.1854dup (p.Leu619AlafsTer16) n.2389dup n.2411dup | |
16 | g.50712340_50712350del | CA2633164856 | NOD2 | c.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 |
16 | g.50712339C>A | CA395872262 | NOD2 | c.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 | |
16 | g.50712339C>G | CA395872263 | NOD2 | c.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 | |
16 | g.50712339C>T | CA495456291 | NOD2 | c.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 | |
16 | g.50712340T>A | CA395872266 | NOD2 | c.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 | |
16 | g.50712340T>C | CA395872268 | NOD2 | c.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 | |
16 | g.50712340T>G | CA395872270 | NOD2 | c.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 | |
16 | g.50712341G>A | CA495456300 | NOD2 | c.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 |
16 | g.50712341G>C | CA495456303 | NOD2 | c.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 | |
16 | g.50712341G= | CA2221863087 | NOD2 | c.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= | |
16 | g.50712341G>T | CA495456302 | NOD2 | c.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 | |
16 | g.50712342C>A | CA395872274 | NOD2 | c.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 | |
16 | g.50712342C= | CA2221863090 | NOD2 | c.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= | |
16 | g.50712342C>G | CA395872272 | NOD2 | c.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 | |
16 | g.50712342C>T | CA495456311 | NOD2 | c.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 |
16 | g.50712343T>A | CA395872277 | NOD2 | c.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 | |
16 | g.50712343T>C | CA395872278 | NOD2 | c.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 |
16 | g.50712343T>G | CA395872280 | NOD2 | c.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 | |
16 | g.50712343_50712344insCCAC | CA2840052017 | NOD2 | c.2351_2352insCCAC (p.Pro785HisfsTer15) c.2351_2352insCCAC (p.Pro785HisfsTer24) c.150_151insCCAC c.2432_2433insCCAC (p.Pro812HisfsTer15) c.2351_2352insCCAC (p.Pro785HisfsTer20) c.1928_1929insCCAC (p.Pro644HisfsTer15) c.1766_1767insCCAC (p.Pro590HisfsTer15) c.2351_2352insCCAC (p.Pro785HisfsTer?) c.2351_2352insCCAC (p.Pro785HisfsTer27) n.2441_2442insCCAC c.1859_1860insCCAC (p.Pro621HisfsTer15) n.2394_2395insCCAC n.2416_2417insCCAC | |
16 | g.50712344G>A | CA495456318 | NOD2 | c.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 |
16 | g.50712344G>C | CA495456320 | NOD2 | c.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 | |
16 | g.50712344G>T | CA495456322 | NOD2 | c.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 | |
16 | g.50712345C>A | CA395872282 | NOD2 | c.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 | |
16 | g.50712345C= | CA2221863096 | NOD2 | c.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= | |
16 | g.50712345C>G | CA395872284 | NOD2 | c.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 | |
16 | g.50712345C>T | CA281264561 | NOD2 | c.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 |
16 | g.50712346C>A | CA395872286 | NOD2 | c.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 | |
16 | g.50712346C>G | CA395872287 | NOD2 | c.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 | |
16 | g.50712346C>T | CA395872288 | NOD2 | c.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 | |
16 | g.50712347T>A | CA495456335 | NOD2 | c.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 | |
16 | g.50712347T>C | CA495456339 | NOD2 | c.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 | |
16 | g.50712347T>G | CA495456340 | NOD2 | c.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 | |
16 | g.50712348dup | CA2841591006 | NOD2 | c.2356dup (p.Cys786LeufsTer13) c.2356dup (p.Cys786LeufsTer22) c.155dup c.2437dup (p.Cys813LeufsTer13) c.2356dup (p.Cys786LeufsTer18) c.1933dup (p.Cys645LeufsTer13) c.1771dup (p.Cys591LeufsTer13) c.2356dup (p.Cys786LeufsTer?) c.2356dup (p.Cys786LeufsTer25) n.2446dup c.1864dup (p.Cys622LeufsTer13) n.2399dup n.2421dup | |
16 | g.50712348T>A | CA395872291 | NOD2 | c.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 | |
16 | g.50712348T>C | CA395872293 | NOD2 | c.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 | |
16 | g.50712348T>G | CA395872294 | NOD2 | c.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 | |
16 | g.50712349G>A | CA395872300 | NOD2 | c.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 |
16 | g.50712349G>C | CA395872299 | NOD2 | c.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 |
16 | g.50712349G>T | CA395872297 | NOD2 | c.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 | |
16 | g.50712350C>A | CA395872302 | NOD2 | c.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 | |
16 | g.50712350C>G | CA395872303 | NOD2 | c.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 | |
16 | g.50712350C>T | CA495456354 | NOD2 | c.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 | |
16 | g.50712351dup | CA2841591007 | NOD2 | c.2359dup (p.Leu787ProfsTer12) c.2359dup (p.Leu787ProfsTer21) c.158dup c.2440dup (p.Leu814ProfsTer12) c.2359dup (p.Leu787ProfsTer17) c.1936dup (p.Leu646ProfsTer12) c.1774dup (p.Leu592ProfsTer12) c.2359dup (p.Leu787ProfsTer?) c.2359dup (p.Leu787ProfsTer24) n.2449dup c.1867dup (p.Leu623ProfsTer12) n.2402dup n.2424dup | |
16 | g.50712351C>A | CA395872306 | NOD2 | c.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 | |
16 | g.50712351C= | CA2221863103 | NOD2 | c.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= | |
16 | g.50712351C>G | CA395872307 | NOD2 | c.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 |
16 | g.50712351C>T | CA395872309 | NOD2 | c.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 | |
16 | g.50712352T>A | CA395872315 | NOD2 | c.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 | |
16 | g.50712352T>C | CA395872313 | NOD2 | c.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 | |
16 | g.50712352T>G | CA395872311 | NOD2 | c.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 | |
16 | g.50712353T>A | CA495456366 | NOD2 | c.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 | |
16 | g.50712353T>C | CA495456368 | NOD2 | c.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 | |
16 | g.50712353T>G | CA495456370 | NOD2 | c.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 | |
16 | g.50712354G>A | CA395872317 | NOD2 | c.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 | |
16 | g.50712354G>C | CA395872319 | NOD2 | c.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 | |
16 | g.50712354G>T | CA395872320 | NOD2 | c.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 | |
16 | g.50712355G>A | CA395872321 | NOD2 | c.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 | |
16 | g.50712355G>C | CA395872322 | NOD2 | c.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 | |
16 | g.50712355G= | CA2221863106 | NOD2 | c.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= | |
16 | g.50712355G>T | CA395872323 | NOD2 | c.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 |
16 | g.50712356T>A | CA495456382 | NOD2 | c.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 | |
16 | g.50712356T>C | CA495456384 | NOD2 | c.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 | |
16 | g.50712356T>G | CA495456386 | NOD2 | c.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 | |
16 | g.50712357G>A | CA10590109 | NOD2 | c.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 |
16 | g.50712357G>C | CA395872325 | NOD2 | c.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 | |
16 | g.50712357G= | CA2221863111 | NOD2 | c.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= | |
16 | g.50712357G>T | CA395872324 | NOD2 | c.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 | |
16 | g.50712358T>A | CA395872326 | NOD2 | c.2366T>A (p.Val789Asp) c.165T>A c.2447T>A (p.Val816Asp) c.1943T>A (p.Val648Asp) c.1781T>A (p.Val594Asp) n.2456T>A c.1874T>A (p.Val625Asp) n.2409T>A n.2431T>A | |
16 | g.50712358T>C | CA395872327 | NOD2 | c.2366T>C (p.Val789Ala) c.165T>C c.2447T>C (p.Val816Ala) c.1943T>C (p.Val648Ala) c.1781T>C (p.Val594Ala) n.2456T>C c.1874T>C (p.Val625Ala) n.2409T>C n.2431T>C | |
16 | g.50712358T>G | CA395872328 | NOD2 | c.2366T>G (p.Val789Gly) c.165T>G c.2447T>G (p.Val816Gly) c.1943T>G (p.Val648Gly) c.1781T>G (p.Val594Gly) n.2456T>G c.1874T>G (p.Val625Gly) n.2409T>G n.2431T>G | |
16 | g.50712359_50712360del | CA2841591008 | NOD2 | c.2367_2368del (p.Cys790GlnfsTer8) c.2367_2368del (p.Cys790GlnfsTer17) c.166_167del c.2448_2449del (p.Cys817GlnfsTer8) c.2367_2368del (p.Cys790GlnfsTer13) c.1944_1945del (p.Cys649GlnfsTer8) c.1782_1783del (p.Cys595GlnfsTer8) c.2367_2368del (p.Cys790GlnfsTer?) c.2367_2368del (p.Cys790GlnfsTer20) n.2457_2458del c.1875_1876del (p.Cys626GlnfsTer8) n.2410_2411del n.2432_2433del | |
16 | g.50712359C>A | CA495456400 | NOD2 | c.2367C>A (p.Val789=) c.166C>A c.2448C>A (p.Val816=) c.1944C>A (p.Val648=) c.1782C>A (p.Val594=) n.2457C>A c.1875C>A (p.Val625=) n.2410C>A n.2432C>A | gnomAD v4 |
16 | g.50712359C>G | CA495456401 | NOD2 | c.2367C>G (p.Val789=) c.166C>G c.2448C>G (p.Val816=) c.1944C>G (p.Val648=) c.1782C>G (p.Val594=) n.2457C>G c.1875C>G (p.Val625=) n.2410C>G n.2432C>G | |
16 | g.50712359C>T | CA495456404 | NOD2 | c.2367C>T (p.Val789=) c.166C>T c.2448C>T (p.Val816=) c.1944C>T (p.Val648=) c.1782C>T (p.Val594=) n.2457C>T c.1875C>T (p.Val625=) n.2410C>T n.2432C>T | |
16 | g.50712360T>A | CA395872329 | NOD2 | c.2368T>A (p.Cys790Ser) c.167T>A c.2449T>A (p.Cys817Ser) c.1945T>A (p.Cys649Ser) c.1783T>A (p.Cys595Ser) n.2458T>A c.1876T>A (p.Cys626Ser) n.2411T>A n.2433T>A | |
16 | g.50712360T>C | CA395872330 | NOD2 | c.2368T>C (p.Cys790Arg) c.167T>C c.2449T>C (p.Cys817Arg) c.1945T>C (p.Cys649Arg) c.1783T>C (p.Cys595Arg) n.2458T>C c.1876T>C (p.Cys626Arg) n.2411T>C n.2433T>C | |
16 | g.50712360T>G | CA395872331 | NOD2 | c.2368T>G (p.Cys790Gly) c.167T>G c.2449T>G (p.Cys817Gly) c.1945T>G (p.Cys649Gly) c.1783T>G (p.Cys595Gly) n.2458T>G c.1876T>G (p.Cys626Gly) n.2411T>G n.2433T>G | |
16 | g.50712360_50712361delinsTG | CA2221863117 | NOD2 | c.2368_2369delinsTG (p.Cys790=) c.167_168delinsTG c.2449_2450delinsTG (p.Cys817=) c.1945_1946delinsTG (p.Cys649=) c.1783_1784delinsTG (p.Cys595=) n.2458_2459delinsTG c.1876_1877delinsTG (p.Cys626=) n.2411_2412delinsTG n.2433_2434delinsTG | |
16 | g.50712361del | CA622233362 | NOD2 | c.2369del (p.Cys790SerfsTer14) c.2369del (p.Cys790SerfsTer20) c.168del c.2369del (p.Cys790SerfsTer?) c.2450del (p.Cys817SerfsTer?) c.1946del (p.Cys649SerfsTer?) c.1784del (p.Cys595SerfsTer?) n.2459del c.1877del (p.Cys626SerfsTer?) n.2412del n.2434del | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50712361G>A | CA8051770 | NOD2 | c.2369G>A (p.Cys790Tyr) c.168G>A c.2450G>A (p.Cys817Tyr) c.1946G>A (p.Cys649Tyr) c.1784G>A (p.Cys595Tyr) n.2459G>A c.1877G>A (p.Cys626Tyr) n.2412G>A n.2434G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50712361G>C | CA395872332 | NOD2 | c.2369G>C (p.Cys790Ser) c.168G>C c.2450G>C (p.Cys817Ser) c.1946G>C (p.Cys649Ser) c.1784G>C (p.Cys595Ser) n.2459G>C c.1877G>C (p.Cys626Ser) n.2412G>C n.2434G>C | |
16 | g.50712361G= | CA2221863122 | NOD2 | c.2369G= (p.Cys790=) c.168G= c.2450G= (p.Cys817=) c.1946G= (p.Cys649=) c.1784G= (p.Cys595=) n.2459G= c.1877G= (p.Cys626=) n.2412G= n.2434G= | |
16 | g.50712361G>T | CA395872333 | NOD2 | c.2369G>T (p.Cys790Phe) c.168G>T c.2450G>T (p.Cys817Phe) c.1946G>T (p.Cys649Phe) c.1784G>T (p.Cys595Phe) n.2459G>T c.1877G>T (p.Cys626Phe) n.2412G>T n.2434G>T | |
16 | g.50712362C>A | CA395872334 | NOD2 | c.2370C>A (p.Cys790Ter) c.169C>A c.2451C>A (p.Cys817Ter) c.1947C>A (p.Cys649Ter) c.1785C>A (p.Cys595Ter) n.2460C>A c.1878C>A (p.Cys626Ter) n.2413C>A n.2435C>A | |
16 | g.50712362C>G | CA395872335 | NOD2 | c.2370C>G (p.Cys790Trp) c.169C>G c.2451C>G (p.Cys817Trp) c.1947C>G (p.Cys649Trp) c.1785C>G (p.Cys595Trp) n.2460C>G c.1878C>G (p.Cys626Trp) n.2413C>G n.2435C>G | |
16 | g.50712362C>T | CA495456415 | NOD2 | c.2370C>T (p.Cys790=) c.169C>T c.2451C>T (p.Cys817=) c.1947C>T (p.Cys649=) c.1785C>T (p.Cys595=) n.2460C>T c.1878C>T (p.Cys626=) n.2413C>T n.2435C>T |