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.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 |
| 16 | g.50729892T>A | CA395876936 | NOD2 | c.*74T>A (n.*74T>A) c.*725T>A (n.*725T>A) n.2438T>A c.2960T>A (p.Leu987Gln) c.3041T>A (p.Leu1014Gln) c.2876T>A (p.Leu959Gln) c.2537T>A (p.Leu846Gln) c.2375T>A (p.Leu792Gln) c.2468T>A (p.Leu823Gln) n.3172T>A | |
| 16 | g.50729892T>C | CA395876938 | NOD2 | c.*74T>C (n.*74T>C) c.*725T>C (n.*725T>C) n.2438T>C c.2960T>C (p.Leu987Pro) c.3041T>C (p.Leu1014Pro) c.2876T>C (p.Leu959Pro) c.2537T>C (p.Leu846Pro) c.2375T>C (p.Leu792Pro) c.2468T>C (p.Leu823Pro) n.3172T>C | gnomAD v4 |
| 16 | g.50729892T>G | CA395876934 | NOD2 | c.*74T>G (n.*74T>G) c.*725T>G (n.*725T>G) n.2438T>G c.2960T>G (p.Leu987Arg) c.3041T>G (p.Leu1014Arg) c.2876T>G (p.Leu959Arg) c.2537T>G (p.Leu846Arg) c.2375T>G (p.Leu792Arg) c.2468T>G (p.Leu823Arg) n.3172T>G | |
| 16 | g.50729893G>A | CA495479367 | NOD2 | c.*75G>A (n.*75G>A) c.*726G>A (n.*726G>A) n.2439G>A c.2961G>A (p.Leu987=) c.3042G>A (p.Leu1014=) c.2877G>A (p.Leu959=) c.2538G>A (p.Leu846=) c.2376G>A (p.Leu792=) c.2469G>A (p.Leu823=) n.3173G>A | |
| 16 | g.50729893G>C | CA495479369 | NOD2 | c.*75G>C (n.*75G>C) c.*726G>C (n.*726G>C) n.2439G>C c.2961G>C (p.Leu987=) c.3042G>C (p.Leu1014=) c.2877G>C (p.Leu959=) c.2538G>C (p.Leu846=) c.2376G>C (p.Leu792=) c.2469G>C (p.Leu823=) n.3173G>C | |
| 16 | g.50729893G>T | CA495479372 | NOD2 | c.*75G>T (n.*75G>T) c.*726G>T (n.*726G>T) n.2439G>T c.2961G>T (p.Leu987=) c.3042G>T (p.Leu1014=) c.2877G>T (p.Leu959=) c.2538G>T (p.Leu846=) c.2376G>T (p.Leu792=) c.2469G>T (p.Leu823=) n.3173G>T | |
| 16 | g.50729894G>A | CA395876939 | NOD2 | c.*76G>A (n.*76G>A) c.*727G>A (n.*727G>A) n.2440G>A c.2962G>A (p.Glu988Lys) c.3043G>A (p.Glu1015Lys) c.2878G>A (p.Glu960Lys) c.2539G>A (p.Glu847Lys) c.2377G>A (p.Glu793Lys) c.2470G>A (p.Glu824Lys) n.3174G>A | |
| 16 | g.50729894G>C | CA395876941 | NOD2 | c.*76G>C (n.*76G>C) c.*727G>C (n.*727G>C) n.2440G>C c.2962G>C (p.Glu988Gln) c.3043G>C (p.Glu1015Gln) c.2878G>C (p.Glu960Gln) c.2539G>C (p.Glu847Gln) c.2377G>C (p.Glu793Gln) c.2470G>C (p.Glu824Gln) n.3174G>C | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.50729894G= | CA2221867224 | NOD2 | c.*76G= (n.*76G=) c.*727G= (n.*727G=) n.2440G= c.2962G= (p.Glu988=) c.3043G= (p.Glu1015=) c.2878G= (p.Glu960=) c.2539G= (p.Glu847=) c.2377G= (p.Glu793=) c.2470G= (p.Glu824=) n.3174G= | |
| 16 | g.50729894G>T | CA395876942 | NOD2 | c.*76G>T (n.*76G>T) c.*727G>T (n.*727G>T) n.2440G>T c.2962G>T (p.Glu988Ter) c.3043G>T (p.Glu1015Ter) c.2878G>T (p.Glu960Ter) c.2539G>T (p.Glu847Ter) c.2377G>T (p.Glu793Ter) c.2470G>T (p.Glu824Ter) n.3174G>T | |
| 16 | g.50729895A>C | CA395876943 | NOD2 | c.*77A>C (n.*77A>C) c.*728A>C (n.*728A>C) n.2441A>C c.2963A>C (p.Glu988Ala) c.3044A>C (p.Glu1015Ala) c.2879A>C (p.Glu960Ala) c.2540A>C (p.Glu847Ala) c.2378A>C (p.Glu793Ala) c.2471A>C (p.Glu824Ala) n.3175A>C | gnomAD v4 |
| 16 | g.50729895A>G | CA395876945 | NOD2 | c.*77A>G (n.*77A>G) c.*728A>G (n.*728A>G) n.2441A>G c.2963A>G (p.Glu988Gly) c.3044A>G (p.Glu1015Gly) c.2879A>G (p.Glu960Gly) c.2540A>G (p.Glu847Gly) c.2378A>G (p.Glu793Gly) c.2471A>G (p.Glu824Gly) n.3175A>G | |
| 16 | g.50729895A>T | CA395876947 | NOD2 | c.*77A>T (n.*77A>T) c.*728A>T (n.*728A>T) n.2441A>T c.2963A>T (p.Glu988Val) c.3044A>T (p.Glu1015Val) c.2879A>T (p.Glu960Val) c.2540A>T (p.Glu847Val) c.2378A>T (p.Glu793Val) c.2471A>T (p.Glu824Val) n.3175A>T | |
| 16 | g.50729896A>C | CA395876948 | NOD2 | c.*78A>C (n.*78A>C) c.*729A>C (n.*729A>C) n.2442A>C c.2964A>C (p.Glu988Asp) c.3045A>C (p.Glu1015Asp) c.2880A>C (p.Glu960Asp) c.2541A>C (p.Glu847Asp) c.2379A>C (p.Glu793Asp) c.2472A>C (p.Glu824Asp) n.3176A>C | |
| 16 | g.50729896A>G | CA495479388 | NOD2 | c.*78A>G (n.*78A>G) c.*729A>G (n.*729A>G) n.2442A>G c.2964A>G (p.Glu988=) c.3045A>G (p.Glu1015=) c.2880A>G (p.Glu960=) c.2541A>G (p.Glu847=) c.2379A>G (p.Glu793=) c.2472A>G (p.Glu824=) n.3176A>G | |
| 16 | g.50729896A>T | CA395876950 | NOD2 | c.*78A>T (n.*78A>T) c.*729A>T (n.*729A>T) n.2442A>T c.2964A>T (p.Glu988Asp) c.3045A>T (p.Glu1015Asp) c.2880A>T (p.Glu960Asp) c.2541A>T (p.Glu847Asp) c.2379A>T (p.Glu793Asp) c.2472A>T (p.Glu824Asp) n.3176A>T | |
| 16 | g.50729897G>A | CA281283437 | NOD2 | c.*79G>A (n.*79G>A) c.*730G>A (n.*730G>A) n.2443G>A c.2965G>A (p.Val989Ile) c.3046G>A (p.Val1016Ile) c.2881G>A (p.Val961Ile) c.2542G>A (p.Val848Ile) c.2380G>A (p.Val794Ile) c.2473G>A (p.Val825Ile) n.3177G>A | dbSNP gnomAD v3 gnomAD v4 |