WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 16 | g.50729884C>T | CA281283436 | NOD2 | c.*66C>T (n.*66C>T) c.*717C>T (n.*717C>T) n.2430C>T c.2952C>T (p.Asp984=) c.3033C>T (p.Asp1011=) c.2868C>T (p.Asp956=) c.2529C>T (p.Asp843=) c.2367C>T (p.Asp789=) c.2460C>T (p.Asp820=) n.3164C>T | dbSNP gnomAD v4 |
| 16 | g.50729885A>C | CA395876907 | NOD2 | c.*67A>C (n.*67A>C) c.*718A>C (n.*718A>C) n.2431A>C c.2953A>C (p.Thr985Pro) c.3034A>C (p.Thr1012Pro) c.2869A>C (p.Thr957Pro) c.2530A>C (p.Thr844Pro) c.2368A>C (p.Thr790Pro) c.2461A>C (p.Thr821Pro) n.3165A>C | |
| 16 | g.50729885A>G | CA395876906 | NOD2 | c.*67A>G (n.*67A>G) c.*718A>G (n.*718A>G) n.2431A>G c.2953A>G (p.Thr985Ala) c.3034A>G (p.Thr1012Ala) c.2869A>G (p.Thr957Ala) c.2530A>G (p.Thr844Ala) c.2368A>G (p.Thr790Ala) c.2461A>G (p.Thr821Ala) n.3165A>G | |
| 16 | g.50729885A>T | CA395876904 | NOD2 | c.*67A>T (n.*67A>T) c.*718A>T (n.*718A>T) n.2431A>T c.2953A>T (p.Thr985Ser) c.3034A>T (p.Thr1012Ser) c.2869A>T (p.Thr957Ser) c.2530A>T (p.Thr844Ser) c.2368A>T (p.Thr790Ser) c.2461A>T (p.Thr821Ser) n.3165A>T | |
| 16 | g.50729886C>A | CA395876913 | NOD2 | c.*68C>A (n.*68C>A) c.*719C>A (n.*719C>A) n.2432C>A c.2954C>A (p.Thr985Asn) c.3035C>A (p.Thr1012Asn) c.2870C>A (p.Thr957Asn) c.2531C>A (p.Thr844Asn) c.2369C>A (p.Thr790Asn) c.2462C>A (p.Thr821Asn) n.3166C>A | gnomAD v4 |
| 16 | g.50729886C= | CA2221867222 | NOD2 | c.*68C= (n.*68C=) c.*719C= (n.*719C=) n.2432C= c.2954C= (p.Thr985=) c.3035C= (p.Thr1012=) c.2870C= (p.Thr957=) c.2531C= (p.Thr844=) c.2369C= (p.Thr790=) c.2462C= (p.Thr821=) n.3166C= | |
| 16 | g.50729886C>G | CA395876909 | NOD2 | c.*68C>G (n.*68C>G) c.*719C>G (n.*719C>G) n.2432C>G c.2954C>G (p.Thr985Ser) c.3035C>G (p.Thr1012Ser) c.2870C>G (p.Thr957Ser) c.2531C>G (p.Thr844Ser) c.2369C>G (p.Thr790Ser) c.2462C>G (p.Thr821Ser) n.3166C>G | dbSNP gnomAD v4 |
| 16 | g.50729886C>T | CA395876911 | NOD2 | c.*68C>T (n.*68C>T) c.*719C>T (n.*719C>T) n.2432C>T c.2954C>T (p.Thr985Ile) c.3035C>T (p.Thr1012Ile) c.2870C>T (p.Thr957Ile) c.2531C>T (p.Thr844Ile) c.2369C>T (p.Thr790Ile) c.2462C>T (p.Thr821Ile) n.3166C>T | |
| 16 | g.50729887C>A | CA8052051 | NOD2 | c.*69C>A (n.*69C>A) c.*720C>A (n.*720C>A) n.2433C>A c.2955C>A (p.Thr985=) c.3036C>A (p.Thr1012=) c.2871C>A (p.Thr957=) c.2532C>A (p.Thr844=) c.2370C>A (p.Thr790=) c.2463C>A (p.Thr821=) n.3167C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.50729887C= | CA2221867223 | NOD2 | c.*69C= (n.*69C=) c.*720C= (n.*720C=) n.2433C= c.2955C= (p.Thr985=) c.3036C= (p.Thr1012=) c.2871C= (p.Thr957=) c.2532C= (p.Thr844=) c.2370C= (p.Thr790=) c.2463C= (p.Thr821=) n.3167C= | |
| 16 | g.50729887C>G | CA495479343 | NOD2 | c.*69C>G (n.*69C>G) c.*720C>G (n.*720C>G) n.2433C>G c.2955C>G (p.Thr985=) c.3036C>G (p.Thr1012=) c.2871C>G (p.Thr957=) c.2532C>G (p.Thr844=) c.2370C>G (p.Thr790=) c.2463C>G (p.Thr821=) n.3167C>G | |
| 16 | g.50729887C>T | CA495479345 | NOD2 | c.*69C>T (n.*69C>T) c.*720C>T (n.*720C>T) n.2433C>T c.2955C>T (p.Thr985=) c.3036C>T (p.Thr1012=) c.2871C>T (p.Thr957=) c.2532C>T (p.Thr844=) c.2370C>T (p.Thr790=) c.2463C>T (p.Thr821=) n.3167C>T | |
| 16 | g.50729888A>C | CA395876916 | NOD2 | c.*70A>C (n.*70A>C) c.*721A>C (n.*721A>C) n.2434A>C c.2956A>C (p.Ile986Leu) c.3037A>C (p.Ile1013Leu) c.2872A>C (p.Ile958Leu) c.2533A>C (p.Ile845Leu) c.2371A>C (p.Ile791Leu) c.2464A>C (p.Ile822Leu) n.3168A>C | gnomAD v4 |
| 16 | g.50729888A>G | CA395876918 | NOD2 | c.*70A>G (n.*70A>G) c.*721A>G (n.*721A>G) n.2434A>G c.2956A>G (p.Ile986Val) c.3037A>G (p.Ile1013Val) c.2872A>G (p.Ile958Val) c.2533A>G (p.Ile845Val) c.2371A>G (p.Ile791Val) c.2464A>G (p.Ile822Val) n.3168A>G | |
| 16 | g.50729888A>T | CA395876920 | NOD2 | c.*70A>T (n.*70A>T) c.*721A>T (n.*721A>T) n.2434A>T c.2956A>T (p.Ile986Phe) c.3037A>T (p.Ile1013Phe) c.2872A>T (p.Ile958Phe) c.2533A>T (p.Ile845Phe) c.2371A>T (p.Ile791Phe) c.2464A>T (p.Ile822Phe) n.3168A>T | |
| 16 | g.50729889T>A | CA395876923 | NOD2 | c.*71T>A (n.*71T>A) c.*722T>A (n.*722T>A) n.2435T>A c.2957T>A (p.Ile986Asn) c.3038T>A (p.Ile1013Asn) c.2873T>A (p.Ile958Asn) c.2534T>A (p.Ile845Asn) c.2372T>A (p.Ile791Asn) c.2465T>A (p.Ile822Asn) n.3169T>A | |
| 16 | g.50729889T>C | CA395876925 | NOD2 | c.*71T>C (n.*71T>C) c.*722T>C (n.*722T>C) n.2435T>C c.2957T>C (p.Ile986Thr) c.3038T>C (p.Ile1013Thr) c.2873T>C (p.Ile958Thr) c.2534T>C (p.Ile845Thr) c.2372T>C (p.Ile791Thr) c.2465T>C (p.Ile822Thr) n.3169T>C | ClinVar dbSNP COSMIC |
| 16 | g.50729889T>G | CA395876926 | NOD2 | c.*71T>G (n.*71T>G) c.*722T>G (n.*722T>G) n.2435T>G c.2957T>G (p.Ile986Ser) c.3038T>G (p.Ile1013Ser) c.2873T>G (p.Ile958Ser) c.2534T>G (p.Ile845Ser) c.2372T>G (p.Ile791Ser) c.2465T>G (p.Ile822Ser) n.3169T>G | |
| 16 | g.50729890C>A | CA495479356 | NOD2 | c.*72C>A (n.*72C>A) c.*723C>A (n.*723C>A) n.2436C>A c.2958C>A (p.Ile986=) c.3039C>A (p.Ile1013=) c.2874C>A (p.Ile958=) c.2535C>A (p.Ile845=) c.2373C>A (p.Ile791=) c.2466C>A (p.Ile822=) n.3170C>A | |
| 16 | g.50729890C>G | CA395876928 | NOD2 | c.*72C>G (n.*72C>G) c.*723C>G (n.*723C>G) n.2436C>G c.2958C>G (p.Ile986Met) c.3039C>G (p.Ile1013Met) c.2874C>G (p.Ile958Met) c.2535C>G (p.Ile845Met) c.2373C>G (p.Ile791Met) c.2466C>G (p.Ile822Met) n.3170C>G | |
| 16 | g.50729890C>T | CA495479362 | NOD2 | c.*72C>T (n.*72C>T) c.*723C>T (n.*723C>T) n.2436C>T c.2958C>T (p.Ile986=) c.3039C>T (p.Ile1013=) c.2874C>T (p.Ile958=) c.2535C>T (p.Ile845=) c.2373C>T (p.Ile791=) c.2466C>T (p.Ile822=) n.3170C>T | |
| 16 | g.50729891C>A | CA395876930 | NOD2 | c.*73C>A (n.*73C>A) c.*724C>A (n.*724C>A) n.2437C>A c.2959C>A (p.Leu987Met) c.3040C>A (p.Leu1014Met) c.2875C>A (p.Leu959Met) c.2536C>A (p.Leu846Met) c.2374C>A (p.Leu792Met) c.2467C>A (p.Leu823Met) n.3171C>A | |
| 16 | g.50729891C>G | CA395876932 | NOD2 | c.*73C>G (n.*73C>G) c.*724C>G (n.*724C>G) n.2437C>G c.2959C>G (p.Leu987Val) c.3040C>G (p.Leu1014Val) c.2875C>G (p.Leu959Val) c.2536C>G (p.Leu846Val) c.2374C>G (p.Leu792Val) c.2467C>G (p.Leu823Val) n.3171C>G | |
| 16 | g.50729891C>T | CA495479363 | NOD2 | c.*73C>T (n.*73C>T) c.*724C>T (n.*724C>T) n.2437C>T c.2959C>T (p.Leu987=) c.3040C>T (p.Leu1014=) c.2875C>T (p.Leu959=) c.2536C>T (p.Leu846=) c.2374C>T (p.Leu792=) c.2467C>T (p.Leu823=) n.3171C>T | ClinVar COSMIC |