| 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.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.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 |