Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.50712254C>ACA495779133NOD2c.2262C>A (p.Ala754=)
c.61C>A
c.2343C>A (p.Ala781=)
c.1839C>A (p.Ala613=)
c.1677C>A (p.Ala559=)
n.2352C>A
c.1770C>A (p.Ala590=)
n.2305C>A
n.2327C>A
16g.50712254C=CA2221862922NOD2c.2262C= (p.Ala754=)
c.61C=
c.2343C= (p.Ala781=)
c.1839C= (p.Ala613=)
c.1677C= (p.Ala559=)
n.2352C=
c.1770C= (p.Ala590=)
n.2305C=
n.2327C=
16g.50712254C>GCA495779135NOD2c.2262C>G (p.Ala754=)
c.61C>G
c.2343C>G (p.Ala781=)
c.1839C>G (p.Ala613=)
c.1677C>G (p.Ala559=)
n.2352C>G
c.1770C>G (p.Ala590=)
n.2305C>G
n.2327C>G
 gnomAD v4
16g.50712254C>TCA495779137NOD2c.2262C>T (p.Ala754=)
c.61C>T
c.2343C>T (p.Ala781=)
c.1839C>T (p.Ala613=)
c.1677C>T (p.Ala559=)
n.2352C>T
c.1770C>T (p.Ala590=)
n.2305C>T
n.2327C>T
 dbSNP gnomAD v2 gnomAD v4
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.50712255C>ACA395871913NOD2c.2263C>A (p.Leu755Met)
c.62C>A
c.2344C>A (p.Leu782Met)
c.1840C>A (p.Leu614Met)
c.1678C>A (p.Leu560Met)
n.2353C>A
c.1771C>A (p.Leu591Met)
n.2306C>A
n.2328C>A
16g.50712255C=CA2221862926NOD2c.2263C= (p.Leu755=)
c.62C=
c.2344C= (p.Leu782=)
c.1840C= (p.Leu614=)
c.1678C= (p.Leu560=)
n.2353C=
c.1771C= (p.Leu591=)
n.2306C=
n.2328C=
16g.50712255C>GCA395871911NOD2c.2263C>G (p.Leu755Val)
c.62C>G
c.2344C>G (p.Leu782Val)
c.1840C>G (p.Leu614Val)
c.1678C>G (p.Leu560Val)
n.2353C>G
c.1771C>G (p.Leu591Val)
n.2306C>G
n.2328C>G
16g.50712255C>TCA281264417NOD2c.2263C>T (p.Leu755=)
c.62C>T
c.2344C>T (p.Leu782=)
c.1840C>T (p.Leu614=)
c.1678C>T (p.Leu560=)
n.2353C>T
c.1771C>T (p.Leu591=)
n.2306C>T
n.2328C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.50712256T>ACA395871915NOD2c.2264T>A (p.Leu755Gln)
c.63T>A
c.2345T>A (p.Leu782Gln)
c.1841T>A (p.Leu614Gln)
c.1679T>A (p.Leu560Gln)
n.2354T>A
c.1772T>A (p.Leu591Gln)
n.2307T>A
n.2329T>A
16g.50712256T>CCA395871917NOD2c.2264T>C (p.Leu755Pro)
c.63T>C
c.2345T>C (p.Leu782Pro)
c.1841T>C (p.Leu614Pro)
c.1679T>C (p.Leu560Pro)
n.2354T>C
c.1772T>C (p.Leu591Pro)
n.2307T>C
n.2329T>C
16g.50712256T>GCA395871919NOD2c.2264T>G (p.Leu755Arg)
c.63T>G
c.2345T>G (p.Leu782Arg)
c.1841T>G (p.Leu614Arg)
c.1679T>G (p.Leu560Arg)
n.2354T>G
c.1772T>G (p.Leu591Arg)
n.2307T>G
n.2329T>G
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

Number of alleles fetched