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.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

Number of alleles fetched