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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 16 | g.50729880A>G | CA8052050 | NOD2 | c.*62A>G (n.*62A>G) c.*713A>G (n.*713A>G) n.2426A>G c.2948A>G (p.Asn983Ser) c.3029A>G (p.Asn1010Ser) c.2864A>G (p.Asn955Ser) c.2525A>G (p.Asn842Ser) c.2363A>G (p.Asn788Ser) c.2456A>G (p.Asn819Ser) n.3160A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50729880A>T | CA395876880 | NOD2 | c.*62A>T (n.*62A>T) c.*713A>T (n.*713A>T) n.2426A>T c.2948A>T (p.Asn983Ile) c.3029A>T (p.Asn1010Ile) c.2864A>T (p.Asn955Ile) c.2525A>T (p.Asn842Ile) c.2363A>T (p.Asn788Ile) c.2456A>T (p.Asn819Ile) n.3160A>T | |
| 16 | g.50729881T>A | CA395876884 | NOD2 | c.*63T>A (n.*63T>A) c.*714T>A (n.*714T>A) n.2427T>A c.2949T>A (p.Asn983Lys) c.3030T>A (p.Asn1010Lys) c.2865T>A (p.Asn955Lys) c.2526T>A (p.Asn842Lys) c.2364T>A (p.Asn788Lys) c.2457T>A (p.Asn819Lys) n.3161T>A | |
| 16 | g.50729881T>C | CA495479314 | NOD2 | c.*63T>C (n.*63T>C) c.*714T>C (n.*714T>C) n.2427T>C c.2949T>C (p.Asn983=) c.3030T>C (p.Asn1010=) c.2865T>C (p.Asn955=) c.2526T>C (p.Asn842=) c.2364T>C (p.Asn788=) c.2457T>C (p.Asn819=) n.3161T>C | |
| 16 | g.50729881T>G | CA395876886 | NOD2 | c.*63T>G (n.*63T>G) c.*714T>G (n.*714T>G) n.2427T>G c.2949T>G (p.Asn983Lys) c.3030T>G (p.Asn1010Lys) c.2865T>G (p.Asn955Lys) c.2526T>G (p.Asn842Lys) c.2364T>G (p.Asn788Lys) c.2457T>G (p.Asn819Lys) n.3161T>G | gnomAD v4 |
| 16 | g.50729882G>A | CA395876887 | NOD2 | c.*64G>A (n.*64G>A) c.*715G>A (n.*715G>A) n.2428G>A c.2950G>A (p.Asp984Asn) c.3031G>A (p.Asp1011Asn) c.2866G>A (p.Asp956Asn) c.2527G>A (p.Asp843Asn) c.2365G>A (p.Asp789Asn) c.2458G>A (p.Asp820Asn) n.3162G>A | |
| 16 | g.50729882G>C | CA395876889 | NOD2 | c.*64G>C (n.*64G>C) c.*715G>C (n.*715G>C) n.2428G>C c.2950G>C (p.Asp984His) c.3031G>C (p.Asp1011His) c.2866G>C (p.Asp956His) c.2527G>C (p.Asp843His) c.2365G>C (p.Asp789His) c.2458G>C (p.Asp820His) n.3162G>C | gnomAD v4 |
| 16 | g.50729882G>T | CA395876891 | NOD2 | c.*64G>T (n.*64G>T) c.*715G>T (n.*715G>T) n.2428G>T c.2950G>T (p.Asp984Tyr) c.3031G>T (p.Asp1011Tyr) c.2866G>T (p.Asp956Tyr) c.2527G>T (p.Asp843Tyr) c.2365G>T (p.Asp789Tyr) c.2458G>T (p.Asp820Tyr) n.3162G>T | gnomAD v4 |
| 16 | g.50729883A>C | CA395876893 | NOD2 | c.*65A>C (n.*65A>C) c.*716A>C (n.*716A>C) n.2429A>C c.2951A>C (p.Asp984Ala) c.3032A>C (p.Asp1011Ala) c.2867A>C (p.Asp956Ala) c.2528A>C (p.Asp843Ala) c.2366A>C (p.Asp789Ala) c.2459A>C (p.Asp820Ala) n.3163A>C | |
| 16 | g.50729883A>G | CA395876895 | NOD2 | c.*65A>G (n.*65A>G) c.*716A>G (n.*716A>G) n.2429A>G c.2951A>G (p.Asp984Gly) c.3032A>G (p.Asp1011Gly) c.2867A>G (p.Asp956Gly) c.2528A>G (p.Asp843Gly) c.2366A>G (p.Asp789Gly) c.2459A>G (p.Asp820Gly) n.3163A>G | |
| 16 | g.50729883A>T | CA395876897 | NOD2 | c.*65A>T (n.*65A>T) c.*716A>T (n.*716A>T) n.2429A>T c.2951A>T (p.Asp984Val) c.3032A>T (p.Asp1011Val) c.2867A>T (p.Asp956Val) c.2528A>T (p.Asp843Val) c.2366A>T (p.Asp789Val) c.2459A>T (p.Asp820Val) n.3163A>T | |
| 16 | g.50729884C>A | CA395876899 | NOD2 | c.*66C>A (n.*66C>A) c.*717C>A (n.*717C>A) n.2430C>A c.2952C>A (p.Asp984Glu) c.3033C>A (p.Asp1011Glu) c.2868C>A (p.Asp956Glu) c.2529C>A (p.Asp843Glu) c.2367C>A (p.Asp789Glu) c.2460C>A (p.Asp820Glu) n.3164C>A | |
| 16 | g.50729884C= | CA2221867221 | NOD2 | c.*66C= (n.*66C=) c.*717C= (n.*717C=) n.2430C= c.2952C= (p.Asp984=) c.3033C= (p.Asp1011=) c.2868C= (p.Asp956=) c.2529C= (p.Asp843=) c.2367C= (p.Asp789=) c.2460C= (p.Asp820=) n.3164C= | |
| 16 | g.50729884C>G | CA395876901 | NOD2 | c.*66C>G (n.*66C>G) c.*717C>G (n.*717C>G) n.2430C>G c.2952C>G (p.Asp984Glu) c.3033C>G (p.Asp1011Glu) c.2868C>G (p.Asp956Glu) c.2529C>G (p.Asp843Glu) c.2367C>G (p.Asp789Glu) c.2460C>G (p.Asp820Glu) n.3164C>G |