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.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.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.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.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 |