Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.50729867_50729868delinsGC | CA2221867212 | NOD2 | c.*49_*50delinsGC (n.*49_*50delinsGC) c.*700_*701delinsGC (n.*700_*701delinsGC) n.2413_2414delinsGC c.2935_2936delinsGC (p.Ala979=) c.3016_3017delinsGC (p.Ala1006=) c.2851_2852delinsGC (p.Ala951=) c.2512_2513delinsGC (p.Ala838=) c.2350_2351delinsGC (p.Ala784=) c.2443_2444delinsGC (p.Ala815=) n.3147_3148delinsGC | |
16 | g.50729868C>A | CA395876829 | NOD2 | c.*50C>A (n.*50C>A) c.*701C>A (n.*701C>A) n.2414C>A c.2936C>A (p.Ala979Asp) c.3017C>A (p.Ala1006Asp) c.2852C>A (p.Ala951Asp) c.2513C>A (p.Ala838Asp) c.2351C>A (p.Ala784Asp) c.2444C>A (p.Ala815Asp) n.3148C>A | gnomAD v4 |
16 | g.50729868C>G | CA395876831 | NOD2 | c.*50C>G (n.*50C>G) c.*701C>G (n.*701C>G) n.2414C>G c.2936C>G (p.Ala979Gly) c.3017C>G (p.Ala1006Gly) c.2852C>G (p.Ala951Gly) c.2513C>G (p.Ala838Gly) c.2351C>G (p.Ala784Gly) c.2444C>G (p.Ala815Gly) n.3148C>G | |
16 | g.50729868C>T | CA395876832 | NOD2 | c.*50C>T (n.*50C>T) c.*701C>T (n.*701C>T) n.2414C>T c.2936C>T (p.Ala979Val) c.3017C>T (p.Ala1006Val) c.2852C>T (p.Ala951Val) c.2513C>T (p.Ala838Val) c.2351C>T (p.Ala784Val) c.2444C>T (p.Ala815Val) n.3148C>T | |
16 | g.50729870dup | CA129325 | NOD2 | c.*52dup (n.*52dup) c.*703dup (n.*703dup) n.2416dup c.2938dup (p.Leu980ProfsTer2) c.3019dup (p.Leu1007ProfsTer2) c.2854dup (p.Leu952ProfsTer2) c.2515dup (p.Leu839ProfsTer2) c.2353dup (p.Leu785ProfsTer2) c.2446dup (p.Leu816ProfsTer2) n.3150dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.50729870del | CA721363865 | NOD2 | c.*52del (n.*52del) c.*703del (n.*703del) n.2416del c.2938del (p.Glu981LysfsTer18) c.3019del (p.Glu1008LysfsTer18) c.2854del (p.Glu953LysfsTer18) c.2515del (p.Glu840LysfsTer18) c.2353del (p.Glu786LysfsTer18) c.2446del (p.Glu817LysfsTer18) n.3150del | dbSNP |
16 | g.50729869C>A | CA495479251 | NOD2 | c.*51C>A (n.*51C>A) c.*702C>A (n.*702C>A) n.2415C>A c.2937C>A (p.Ala979=) c.3018C>A (p.Ala1006=) c.2853C>A (p.Ala951=) c.2514C>A (p.Ala838=) c.2352C>A (p.Ala784=) c.2445C>A (p.Ala815=) n.3149C>A | |
16 | g.50729869C= | CA913185967 | NOD2 | c.*51C= (n.*51C=) c.*702C= (n.*702C=) n.2415C= c.2937C= (p.Ala979=) c.3018C= (p.Ala1006=) c.2853C= (p.Ala951=) c.2514C= (p.Ala838=) c.2352C= (p.Ala784=) c.2445C= (p.Ala815=) n.3149C= | |
16 | g.50729869C>G | CA495479249 | NOD2 | c.*51C>G (n.*51C>G) c.*702C>G (n.*702C>G) n.2415C>G c.2937C>G (p.Ala979=) c.3018C>G (p.Ala1006=) c.2853C>G (p.Ala951=) c.2514C>G (p.Ala838=) c.2352C>G (p.Ala784=) c.2445C>G (p.Ala815=) n.3149C>G | |
16 | g.50729869C>T | CA495479256 | NOD2 | c.*51C>T (n.*51C>T) c.*702C>T (n.*702C>T) n.2415C>T c.2937C>T (p.Ala979=) c.3018C>T (p.Ala1006=) c.2853C>T (p.Ala951=) c.2514C>T (p.Ala838=) c.2352C>T (p.Ala784=) c.2445C>T (p.Ala815=) n.3149C>T | |
16 | g.50729870C>A | CA395876835 | NOD2 | c.*52C>A (n.*52C>A) c.*703C>A (n.*703C>A) n.2416C>A c.2938C>A (p.Leu980Ile) c.3019C>A (p.Leu1007Ile) c.2854C>A (p.Leu952Ile) c.2515C>A (p.Leu839Ile) c.2353C>A (p.Leu785Ile) c.2446C>A (p.Leu816Ile) n.3150C>A | |
16 | g.50729870C= | CA2221867214 | NOD2 | c.*52C= (n.*52C=) c.*703C= (n.*703C=) n.2416C= c.2938C= (p.Leu980=) c.3019C= (p.Leu1007=) c.2854C= (p.Leu952=) c.2515C= (p.Leu839=) c.2353C= (p.Leu785=) c.2446C= (p.Leu816=) n.3150C= | |
16 | g.50729870C>G | CA395876837 | NOD2 | c.*52C>G (n.*52C>G) c.*703C>G (n.*703C>G) n.2416C>G c.2938C>G (p.Leu980Val) c.3019C>G (p.Leu1007Val) c.2854C>G (p.Leu952Val) c.2515C>G (p.Leu839Val) c.2353C>G (p.Leu785Val) c.2446C>G (p.Leu816Val) n.3150C>G | dbSNP |
16 | g.50729870C>T | CA8052048 | NOD2 | c.*52C>T (n.*52C>T) c.*703C>T (n.*703C>T) n.2416C>T c.2938C>T (p.Leu980Phe) c.3019C>T (p.Leu1007Phe) c.2854C>T (p.Leu952Phe) c.2515C>T (p.Leu839Phe) c.2353C>T (p.Leu785Phe) c.2446C>T (p.Leu816Phe) n.3150C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50729870_50729871delinsCT | CA2221867215 | NOD2 | c.*52_*53delinsCT (n.*52_*53delinsCT) c.*703_*704delinsCT (n.*703_*704delinsCT) n.2416_2417delinsCT c.2938_2939delinsCT (p.Leu980=) c.3019_3020delinsCT (p.Leu1007=) c.2854_2855delinsCT (p.Leu952=) c.2515_2516delinsCT (p.Leu839=) c.2353_2354delinsCT (p.Leu785=) c.2446_2447delinsCT (p.Leu816=) n.3150_3151delinsCT | |
16 | g.50729871T>A | CA395876839 | NOD2 | c.*53T>A (n.*53T>A) c.*704T>A (n.*704T>A) n.2417T>A c.2939T>A (p.Leu980His) c.3020T>A (p.Leu1007His) c.2855T>A (p.Leu952His) c.2516T>A (p.Leu839His) c.2354T>A (p.Leu785His) c.2447T>A (p.Leu816His) n.3151T>A | |
16 | g.50729871T>C | CA395876841 | NOD2 | c.*53T>C (n.*53T>C) c.*704T>C (n.*704T>C) n.2417T>C c.2939T>C (p.Leu980Pro) c.3020T>C (p.Leu1007Pro) c.2855T>C (p.Leu952Pro) c.2516T>C (p.Leu839Pro) c.2354T>C (p.Leu785Pro) c.2447T>C (p.Leu816Pro) n.3151T>C | dbSNP |
16 | g.50729871T>G | CA395876843 | NOD2 | c.*53T>G (n.*53T>G) c.*704T>G (n.*704T>G) n.2417T>G c.2939T>G (p.Leu980Arg) c.3020T>G (p.Leu1007Arg) c.2855T>G (p.Leu952Arg) c.2516T>G (p.Leu839Arg) c.2354T>G (p.Leu785Arg) c.2447T>G (p.Leu816Arg) n.3151T>G | |
16 | g.50729871T= | CA2221867216 | NOD2 | c.*53T= (n.*53T=) c.*704T= (n.*704T=) n.2417T= c.2939T= (p.Leu980=) c.3020T= (p.Leu1007=) c.2855T= (p.Leu952=) c.2516T= (p.Leu839=) c.2354T= (p.Leu785=) c.2447T= (p.Leu816=) n.3151T= | |
16 | g.50729872del | CA919705420 | NOD2 | c.*54del (n.*54del) c.*705del (n.*705del) n.2418del c.2940del (p.Glu981LysfsTer18) c.3021del (p.Glu1008LysfsTer18) c.2856del (p.Glu953LysfsTer18) c.2517del (p.Glu840LysfsTer18) c.2355del (p.Glu786LysfsTer18) c.2448del (p.Glu817LysfsTer18) n.3152del | dbSNP |
16 | g.50729871_50729872insC | CA495479268 | NOD2 | c.*53_*54insC (n.*53_*54insC) c.*704_*705insC (n.*704_*705insC) n.2417_2418insC c.2939_2940insC (p.Glu981Ter) c.3020_3021insC (p.Glu1008Ter) c.2855_2856insC (p.Glu953Ter) c.2516_2517insC (p.Glu840Ter) c.2354_2355insC (p.Glu786Ter) c.2447_2448insC (p.Glu817Ter) n.3151_3152insC | |
16 | g.50729872T>A | CA495479274 | NOD2 | c.*54T>A (n.*54T>A) c.*705T>A (n.*705T>A) n.2418T>A c.2940T>A (p.Leu980=) c.3021T>A (p.Leu1007=) c.2856T>A (p.Leu952=) c.2517T>A (p.Leu839=) c.2355T>A (p.Leu785=) c.2448T>A (p.Leu816=) n.3152T>A | |
16 | g.50729872T>C | CA495479276 | NOD2 | c.*54T>C (n.*54T>C) c.*705T>C (n.*705T>C) n.2418T>C c.2940T>C (p.Leu980=) c.3021T>C (p.Leu1007=) c.2856T>C (p.Leu952=) c.2517T>C (p.Leu839=) c.2355T>C (p.Leu785=) c.2448T>C (p.Leu816=) n.3152T>C | dbSNP |
16 | g.50729872T>G | CA281283401 | NOD2 | c.*54T>G (n.*54T>G) c.*705T>G (n.*705T>G) n.2418T>G c.2940T>G (p.Leu980=) c.3021T>G (p.Leu1007=) c.2856T>G (p.Leu952=) c.2517T>G (p.Leu839=) c.2355T>G (p.Leu785=) c.2448T>G (p.Leu816=) n.3152T>G | dbSNP |
16 | g.50729872T= | CA2221867217 | NOD2 | c.*54T= (n.*54T=) c.*705T= (n.*705T=) n.2418T= c.2940T= (p.Leu980=) c.3021T= (p.Leu1007=) c.2856T= (p.Leu952=) c.2517T= (p.Leu839=) c.2355T= (p.Leu785=) c.2448T= (p.Leu816=) n.3152T= | |
16 | g.50729873G>A | CA395876850 | NOD2 | c.*55G>A (n.*55G>A) c.*706G>A (n.*706G>A) n.2419G>A c.2941G>A (p.Glu981Lys) c.3022G>A (p.Glu1008Lys) c.2857G>A (p.Glu953Lys) c.2518G>A (p.Glu840Lys) c.2356G>A (p.Glu786Lys) c.2449G>A (p.Glu817Lys) n.3153G>A | |
16 | g.50729873G>C | CA395876849 | NOD2 | c.*55G>C (n.*55G>C) c.*706G>C (n.*706G>C) n.2419G>C c.2941G>C (p.Glu981Gln) c.3022G>C (p.Glu1008Gln) c.2857G>C (p.Glu953Gln) c.2518G>C (p.Glu840Gln) c.2356G>C (p.Glu786Gln) c.2449G>C (p.Glu817Gln) n.3153G>C | gnomAD v4 |
16 | g.50729873G>T | CA395876847 | NOD2 | c.*55G>T (n.*55G>T) c.*706G>T (n.*706G>T) n.2419G>T c.2941G>T (p.Glu981Ter) c.3022G>T (p.Glu1008Ter) c.2857G>T (p.Glu953Ter) c.2518G>T (p.Glu840Ter) c.2356G>T (p.Glu786Ter) c.2449G>T (p.Glu817Ter) n.3153G>T | |
16 | g.50729874A>C | CA395876852 | NOD2 | c.*56A>C (n.*56A>C) c.*707A>C (n.*707A>C) n.2420A>C c.2942A>C (p.Glu981Ala) c.3023A>C (p.Glu1008Ala) c.2858A>C (p.Glu953Ala) c.2519A>C (p.Glu840Ala) c.2357A>C (p.Glu786Ala) c.2450A>C (p.Glu817Ala) n.3154A>C | |
16 | g.50729874A>G | CA395876856 | NOD2 | c.*56A>G (n.*56A>G) c.*707A>G (n.*707A>G) n.2420A>G c.2942A>G (p.Glu981Gly) c.3023A>G (p.Glu1008Gly) c.2858A>G (p.Glu953Gly) c.2519A>G (p.Glu840Gly) c.2357A>G (p.Glu786Gly) c.2450A>G (p.Glu817Gly) n.3154A>G | |
16 | g.50729874A>T | CA395876853 | NOD2 | c.*56A>T (n.*56A>T) c.*707A>T (n.*707A>T) n.2420A>T c.2942A>T (p.Glu981Val) c.3023A>T (p.Glu1008Val) c.2858A>T (p.Glu953Val) c.2519A>T (p.Glu840Val) c.2357A>T (p.Glu786Val) c.2450A>T (p.Glu817Val) n.3154A>T | |
16 | g.50729875A>C | CA395876857 | NOD2 | c.*57A>C (n.*57A>C) c.*708A>C (n.*708A>C) n.2421A>C c.2943A>C (p.Glu981Asp) c.3024A>C (p.Glu1008Asp) c.2859A>C (p.Glu953Asp) c.2520A>C (p.Glu840Asp) c.2358A>C (p.Glu786Asp) c.2451A>C (p.Glu817Asp) n.3155A>C | |
16 | g.50729875A>G | CA495479288 | NOD2 | c.*57A>G (n.*57A>G) c.*708A>G (n.*708A>G) n.2421A>G c.2943A>G (p.Glu981=) c.3024A>G (p.Glu1008=) c.2859A>G (p.Glu953=) c.2520A>G (p.Glu840=) c.2358A>G (p.Glu786=) c.2451A>G (p.Glu817=) n.3155A>G | |
16 | g.50729875A>T | CA395876859 | NOD2 | c.*57A>T (n.*57A>T) c.*708A>T (n.*708A>T) n.2421A>T c.2943A>T (p.Glu981Asp) c.3024A>T (p.Glu1008Asp) c.2859A>T (p.Glu953Asp) c.2520A>T (p.Glu840Asp) c.2358A>T (p.Glu786Asp) c.2451A>T (p.Glu817Asp) n.3155A>T | |
16 | g.50729876A= | CA2221867218 | NOD2 | c.*58A= (n.*58A=) c.*709A= (n.*709A=) n.2422A= c.2944A= (p.Arg982=) c.3025A= (p.Arg1009=) c.2860A= (p.Arg954=) c.2521A= (p.Arg841=) c.2359A= (p.Arg787=) c.2452A= (p.Arg818=) n.3156A= | |
16 | g.50729876A>C | CA495479290 | NOD2 | c.*58A>C (n.*58A>C) c.*709A>C (n.*709A>C) n.2422A>C c.2944A>C (p.Arg982=) c.3025A>C (p.Arg1009=) c.2860A>C (p.Arg954=) c.2521A>C (p.Arg841=) c.2359A>C (p.Arg787=) c.2452A>C (p.Arg818=) n.3156A>C | |
16 | g.50729876A>G | CA8052049 | NOD2 | c.*58A>G (n.*58A>G) c.*709A>G (n.*709A>G) n.2422A>G c.2944A>G (p.Arg982Gly) c.3025A>G (p.Arg1009Gly) c.2860A>G (p.Arg954Gly) c.2521A>G (p.Arg841Gly) c.2359A>G (p.Arg787Gly) c.2452A>G (p.Arg818Gly) n.3156A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50729876A>T | CA395876862 | NOD2 | c.*58A>T (n.*58A>T) c.*709A>T (n.*709A>T) n.2422A>T c.2944A>T (p.Arg982Trp) c.3025A>T (p.Arg1009Trp) c.2860A>T (p.Arg954Trp) c.2521A>T (p.Arg841Trp) c.2359A>T (p.Arg787Trp) c.2452A>T (p.Arg818Trp) n.3156A>T | |
16 | g.50729877G>A | CA395876864 | NOD2 | c.*59G>A (n.*59G>A) c.*710G>A (n.*710G>A) n.2423G>A c.2945G>A (p.Arg982Lys) c.3026G>A (p.Arg1009Lys) c.2861G>A (p.Arg954Lys) c.2522G>A (p.Arg841Lys) c.2360G>A (p.Arg787Lys) c.2453G>A (p.Arg818Lys) n.3157G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.50729877G>C | CA395876866 | NOD2 | c.*59G>C (n.*59G>C) c.*710G>C (n.*710G>C) n.2423G>C c.2945G>C (p.Arg982Thr) c.3026G>C (p.Arg1009Thr) c.2861G>C (p.Arg954Thr) c.2522G>C (p.Arg841Thr) c.2360G>C (p.Arg787Thr) c.2453G>C (p.Arg818Thr) n.3157G>C | |
16 | g.50729877G= | CA2221867219 | NOD2 | c.*59G= (n.*59G=) c.*710G= (n.*710G=) n.2423G= c.2945G= (p.Arg982=) c.3026G= (p.Arg1009=) c.2861G= (p.Arg954=) c.2522G= (p.Arg841=) c.2360G= (p.Arg787=) c.2453G= (p.Arg818=) n.3157G= | |
16 | g.50729877G>T | CA395876868 | NOD2 | c.*59G>T (n.*59G>T) c.*710G>T (n.*710G>T) n.2423G>T c.2945G>T (p.Arg982Met) c.3026G>T (p.Arg1009Met) c.2861G>T (p.Arg954Met) c.2522G>T (p.Arg841Met) c.2360G>T (p.Arg787Met) c.2453G>T (p.Arg818Met) n.3157G>T | dbSNP |
16 | g.50729878G>A | CA495479299 | NOD2 | c.*60G>A (n.*60G>A) c.*711G>A (n.*711G>A) n.2424G>A c.2946G>A (p.Arg982=) c.3027G>A (p.Arg1009=) c.2862G>A (p.Arg954=) c.2523G>A (p.Arg841=) c.2361G>A (p.Arg787=) c.2454G>A (p.Arg818=) n.3158G>A | COSMIC |
16 | g.50729878G>C | CA395876869 | NOD2 | c.*60G>C (n.*60G>C) c.*711G>C (n.*711G>C) n.2424G>C c.2946G>C (p.Arg982Ser) c.3027G>C (p.Arg1009Ser) c.2862G>C (p.Arg954Ser) c.2523G>C (p.Arg841Ser) c.2361G>C (p.Arg787Ser) c.2454G>C (p.Arg818Ser) n.3158G>C | |
16 | g.50729878G>T | CA395876871 | NOD2 | c.*60G>T (n.*60G>T) c.*711G>T (n.*711G>T) n.2424G>T c.2946G>T (p.Arg982Ser) c.3027G>T (p.Arg1009Ser) c.2862G>T (p.Arg954Ser) c.2523G>T (p.Arg841Ser) c.2361G>T (p.Arg787Ser) c.2454G>T (p.Arg818Ser) n.3158G>T | |
16 | g.50729879A>C | CA395876873 | NOD2 | c.*61A>C (n.*61A>C) c.*712A>C (n.*712A>C) n.2425A>C c.2947A>C (p.Asn983His) c.3028A>C (p.Asn1010His) c.2863A>C (p.Asn955His) c.2524A>C (p.Asn842His) c.2362A>C (p.Asn788His) c.2455A>C (p.Asn819His) n.3159A>C | |
16 | g.50729879A>G | CA395876874 | NOD2 | c.*61A>G (n.*61A>G) c.*712A>G (n.*712A>G) n.2425A>G c.2947A>G (p.Asn983Asp) c.3028A>G (p.Asn1010Asp) c.2863A>G (p.Asn955Asp) c.2524A>G (p.Asn842Asp) c.2362A>G (p.Asn788Asp) c.2455A>G (p.Asn819Asp) n.3159A>G | |
16 | g.50729879A>T | CA395876876 | NOD2 | c.*61A>T (n.*61A>T) c.*712A>T (n.*712A>T) n.2425A>T c.2947A>T (p.Asn983Tyr) c.3028A>T (p.Asn1010Tyr) c.2863A>T (p.Asn955Tyr) c.2524A>T (p.Asn842Tyr) c.2362A>T (p.Asn788Tyr) c.2455A>T (p.Asn819Tyr) n.3159A>T | |
16 | g.50729880A= | CA2221867220 | NOD2 | c.*62A= (n.*62A=) c.*713A= (n.*713A=) n.2426A= c.2948A= (p.Asn983=) c.3029A= (p.Asn1010=) c.2864A= (p.Asn955=) c.2525A= (p.Asn842=) c.2363A= (p.Asn788=) c.2456A= (p.Asn819=) n.3160A= | |
16 | g.50729880A>C | CA395876882 | NOD2 | c.*62A>C (n.*62A>C) c.*713A>C (n.*713A>C) n.2426A>C c.2948A>C (p.Asn983Thr) c.3029A>C (p.Asn1010Thr) c.2864A>C (p.Asn955Thr) c.2525A>C (p.Asn842Thr) c.2363A>C (p.Asn788Thr) c.2456A>C (p.Asn819Thr) n.3160A>C |