Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.50729815C= | CA2221867185 | NOD2 | c.2382-3C= (n.2382-3C=) c.*651-3C= (n.*651-3C=) n.2364-3C= c.2886-3C= (n.2886-3C=) c.2967-3C= (n.2967-3C=) c.2802-3C= (n.2802-3C=) c.2463-3C= (n.2463-3C=) c.2301-3C= (n.2301-3C=) c.2394-3C= (n.2394-3C=) n.3098-3C= | |
16 | g.50729815C>T | CA721363728 | NOD2 | c.2382-3C>T (n.2382-3C>T) c.*651-3C>T (n.*651-3C>T) n.2364-3C>T c.2886-3C>T (n.2886-3C>T) c.2967-3C>T (n.2967-3C>T) c.2802-3C>T (n.2802-3C>T) c.2463-3C>T (n.2463-3C>T) c.2301-3C>T (n.2301-3C>T) c.2394-3C>T (n.2394-3C>T) n.3098-3C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.50729816A>C | CA395876608 | NOD2 | c.2382-2A>C (n.2382-2A>C) c.*651-2A>C (n.*651-2A>C) n.2364-2A>C c.2886-2A>C (n.2886-2A>C) c.2967-2A>C (n.2967-2A>C) c.2802-2A>C (n.2802-2A>C) c.2463-2A>C (n.2463-2A>C) c.2301-2A>C (n.2301-2A>C) c.2394-2A>C (n.2394-2A>C) n.3098-2A>C | |
16 | g.50729816A>G | CA395876610 | NOD2 | c.2382-2A>G (n.2382-2A>G) c.*651-2A>G (n.*651-2A>G) n.2364-2A>G c.2886-2A>G (n.2886-2A>G) c.2967-2A>G (n.2967-2A>G) c.2802-2A>G (n.2802-2A>G) c.2463-2A>G (n.2463-2A>G) c.2301-2A>G (n.2301-2A>G) c.2394-2A>G (n.2394-2A>G) n.3098-2A>G | |
16 | g.50729816A>T | CA395876612 | NOD2 | c.2382-2A>T (n.2382-2A>T) c.*651-2A>T (n.*651-2A>T) n.2364-2A>T c.2886-2A>T (n.2886-2A>T) c.2967-2A>T (n.2967-2A>T) c.2802-2A>T (n.2802-2A>T) c.2463-2A>T (n.2463-2A>T) c.2301-2A>T (n.2301-2A>T) c.2394-2A>T (n.2394-2A>T) n.3098-2A>T | |
16 | g.50729817G>A | CA395876613 | NOD2 | c.2382-1G>A (n.2382-1G>A) c.*651-1G>A (n.*651-1G>A) n.2364-1G>A c.2886-1G>A (n.2886-1G>A) c.2967-1G>A (n.2967-1G>A) c.2802-1G>A (n.2802-1G>A) c.2463-1G>A (n.2463-1G>A) c.2301-1G>A (n.2301-1G>A) c.2394-1G>A (n.2394-1G>A) n.3098-1G>A | |
16 | g.50729817G>C | CA395876615 | NOD2 | c.2382-1G>C (n.2382-1G>C) c.*651-1G>C (n.*651-1G>C) n.2364-1G>C c.2886-1G>C (n.2886-1G>C) c.2967-1G>C (n.2967-1G>C) c.2802-1G>C (n.2802-1G>C) c.2463-1G>C (n.2463-1G>C) c.2301-1G>C (n.2301-1G>C) c.2394-1G>C (n.2394-1G>C) n.3098-1G>C | |
16 | g.50729817G>T | CA395876617 | NOD2 | c.2382-1G>T (n.2382-1G>T) c.*651-1G>T (n.*651-1G>T) n.2364-1G>T c.2886-1G>T (n.2886-1G>T) c.2967-1G>T (n.2967-1G>T) c.2802-1G>T (n.2802-1G>T) c.2463-1G>T (n.2463-1G>T) c.2301-1G>T (n.2301-1G>T) c.2394-1G>T (n.2394-1G>T) n.3098-1G>T | |
16 | g.50729818G>A | CA495478987 | NOD2 | c.2382G>A (p.Ter794=) c.*651G>A (n.*651G>A) n.2364G>A c.2886G>A (p.Lys962=) c.2967G>A (p.Lys989=) c.2802G>A (p.Lys934=) c.2463G>A (p.Lys821=) c.2301G>A (p.Lys767=) c.2394G>A (p.Lys798=) n.3098G>A | ClinVar dbSNP |
16 | g.50729818G>C | CA395876619 | NOD2 | c.2382G>C (p.Ter794Tyr) c.*651G>C (n.*651G>C) n.2364G>C c.2886G>C (p.Lys962Asn) c.2967G>C (p.Lys989Asn) c.2802G>C (p.Lys934Asn) c.2463G>C (p.Lys821Asn) c.2301G>C (p.Lys767Asn) c.2394G>C (p.Lys798Asn) n.3098G>C | |
16 | g.50729818G= | CA2221867186 | NOD2 | c.2382G= (p.Ter794=) c.*651G= (n.*651G=) n.2364G= c.2886G= (p.Lys962=) c.2967G= (p.Lys989=) c.2802G= (p.Lys934=) c.2463G= (p.Lys821=) c.2301G= (p.Lys767=) c.2394G= (p.Lys798=) n.3098G= | |
16 | g.50729818G>T | CA395876621 | NOD2 | c.2382G>T (p.Ter794Tyr) c.*651G>T (n.*651G>T) n.2364G>T c.2886G>T (p.Lys962Asn) c.2967G>T (p.Lys989Asn) c.2802G>T (p.Lys934Asn) c.2463G>T (p.Lys821Asn) c.2301G>T (p.Lys767Asn) c.2394G>T (p.Lys798Asn) n.3098G>T | |
16 | g.50729819T>A | CA395876623 | NOD2 | c.*1T>A (n.*1T>A) c.*652T>A (n.*652T>A) n.2365T>A c.2887T>A (p.Leu963Met) c.2968T>A (p.Leu990Met) c.2803T>A (p.Leu935Met) c.2464T>A (p.Leu822Met) c.2302T>A (p.Leu768Met) c.2395T>A (p.Leu799Met) n.3099T>A | |
16 | g.50729819T>C | CA495478993 | NOD2 | c.*1T>C (n.*1T>C) c.*652T>C (n.*652T>C) n.2365T>C c.2887T>C (p.Leu963=) c.2968T>C (p.Leu990=) c.2803T>C (p.Leu935=) c.2464T>C (p.Leu822=) c.2302T>C (p.Leu768=) c.2395T>C (p.Leu799=) n.3099T>C | |
16 | g.50729819T>G | CA395876625 | NOD2 | c.*1T>G (n.*1T>G) c.*652T>G (n.*652T>G) n.2365T>G c.2887T>G (p.Leu963Val) c.2968T>G (p.Leu990Val) c.2803T>G (p.Leu935Val) c.2464T>G (p.Leu822Val) c.2302T>G (p.Leu768Val) c.2395T>G (p.Leu799Val) n.3099T>G | |
16 | g.50729820T>A | CA395876627 | NOD2 | c.*2T>A (n.*2T>A) c.*653T>A (n.*653T>A) n.2366T>A c.2888T>A (p.Leu963Ter) c.2969T>A (p.Leu990Ter) c.2804T>A (p.Leu935Ter) c.2465T>A (p.Leu822Ter) c.2303T>A (p.Leu768Ter) c.2396T>A (p.Leu799Ter) n.3100T>A | |
16 | g.50729820T>C | CA395876629 | NOD2 | c.*2T>C (n.*2T>C) c.*653T>C (n.*653T>C) n.2366T>C c.2888T>C (p.Leu963Ser) c.2969T>C (p.Leu990Ser) c.2804T>C (p.Leu935Ser) c.2465T>C (p.Leu822Ser) c.2303T>C (p.Leu768Ser) c.2396T>C (p.Leu799Ser) n.3100T>C | |
16 | g.50729820T>G | CA395876631 | NOD2 | c.*2T>G (n.*2T>G) c.*653T>G (n.*653T>G) n.2366T>G c.2888T>G (p.Leu963Trp) c.2969T>G (p.Leu990Trp) c.2804T>G (p.Leu935Trp) c.2465T>G (p.Leu822Trp) c.2303T>G (p.Leu768Trp) c.2396T>G (p.Leu799Trp) n.3100T>G | |
16 | g.50729821G>A | CA495479006 | NOD2 | c.*3G>A (n.*3G>A) c.*654G>A (n.*654G>A) n.2367G>A c.2889G>A (p.Leu963=) c.2970G>A (p.Leu990=) c.2805G>A (p.Leu935=) c.2466G>A (p.Leu822=) c.2304G>A (p.Leu768=) c.2397G>A (p.Leu799=) n.3101G>A | |
16 | g.50729821G>C | CA395876633 | NOD2 | c.*3G>C (n.*3G>C) c.*654G>C (n.*654G>C) n.2367G>C c.2889G>C (p.Leu963Phe) c.2970G>C (p.Leu990Phe) c.2805G>C (p.Leu935Phe) c.2466G>C (p.Leu822Phe) c.2304G>C (p.Leu768Phe) c.2397G>C (p.Leu799Phe) n.3101G>C | |
16 | g.50729821G>T | CA395876635 | NOD2 | c.*3G>T (n.*3G>T) c.*654G>T (n.*654G>T) n.2367G>T c.2889G>T (p.Leu963Phe) c.2970G>T (p.Leu990Phe) c.2805G>T (p.Leu935Phe) c.2466G>T (p.Leu822Phe) c.2304G>T (p.Leu768Phe) c.2397G>T (p.Leu799Phe) n.3101G>T | |
16 | g.50729822T>A | CA395876641 | NOD2 | c.*4T>A (n.*4T>A) c.*655T>A (n.*655T>A) n.2368T>A c.2890T>A (p.Ser964Thr) c.2971T>A (p.Ser991Thr) c.2806T>A (p.Ser936Thr) c.2467T>A (p.Ser823Thr) c.2305T>A (p.Ser769Thr) c.2398T>A (p.Ser800Thr) n.3102T>A | |
16 | g.50729822T>C | CA395876639 | NOD2 | c.*4T>C (n.*4T>C) c.*655T>C (n.*655T>C) n.2368T>C c.2890T>C (p.Ser964Pro) c.2971T>C (p.Ser991Pro) c.2806T>C (p.Ser936Pro) c.2467T>C (p.Ser823Pro) c.2305T>C (p.Ser769Pro) c.2398T>C (p.Ser800Pro) n.3102T>C | gnomAD v4 |
16 | g.50729822T>G | CA395876637 | NOD2 | c.*4T>G (n.*4T>G) c.*655T>G (n.*655T>G) n.2368T>G c.2890T>G (p.Ser964Ala) c.2971T>G (p.Ser991Ala) c.2806T>G (p.Ser936Ala) c.2467T>G (p.Ser823Ala) c.2305T>G (p.Ser769Ala) c.2398T>G (p.Ser800Ala) n.3102T>G | |
16 | g.50729823C>A | CA395876643 | NOD2 | c.*5C>A (n.*5C>A) c.*656C>A (n.*656C>A) n.2369C>A c.2891C>A (p.Ser964Tyr) c.2972C>A (p.Ser991Tyr) c.2807C>A (p.Ser936Tyr) c.2468C>A (p.Ser823Tyr) c.2306C>A (p.Ser769Tyr) c.2399C>A (p.Ser800Tyr) n.3103C>A | dbSNP |
16 | g.50729823C>G | CA395876645 | NOD2 | c.*5C>G (n.*5C>G) c.*656C>G (n.*656C>G) n.2369C>G c.2891C>G (p.Ser964Cys) c.2972C>G (p.Ser991Cys) c.2807C>G (p.Ser936Cys) c.2468C>G (p.Ser823Cys) c.2306C>G (p.Ser769Cys) c.2399C>G (p.Ser800Cys) n.3103C>G | |
16 | g.50729823C>T | CA395876647 | NOD2 | c.*5C>T (n.*5C>T) c.*656C>T (n.*656C>T) n.2369C>T c.2891C>T (p.Ser964Phe) c.2972C>T (p.Ser991Phe) c.2807C>T (p.Ser936Phe) c.2468C>T (p.Ser823Phe) c.2306C>T (p.Ser769Phe) c.2399C>T (p.Ser800Phe) n.3103C>T | |
16 | g.50729824C>A | CA495479018 | NOD2 | c.*6C>A (n.*6C>A) c.*657C>A (n.*657C>A) n.2370C>A c.2892C>A (p.Ser964=) c.2973C>A (p.Ser991=) c.2808C>A (p.Ser936=) c.2469C>A (p.Ser823=) c.2307C>A (p.Ser769=) c.2400C>A (p.Ser800=) n.3104C>A | |
16 | g.50729824C= | CA2221867187 | NOD2 | c.*6C= (n.*6C=) c.*657C= (n.*657C=) n.2370C= c.2892C= (p.Ser964=) c.2973C= (p.Ser991=) c.2808C= (p.Ser936=) c.2469C= (p.Ser823=) c.2307C= (p.Ser769=) c.2400C= (p.Ser800=) n.3104C= | |
16 | g.50729824C>G | CA495479020 | NOD2 | c.*6C>G (n.*6C>G) c.*657C>G (n.*657C>G) n.2370C>G c.2892C>G (p.Ser964=) c.2973C>G (p.Ser991=) c.2808C>G (p.Ser936=) c.2469C>G (p.Ser823=) c.2307C>G (p.Ser769=) c.2400C>G (p.Ser800=) n.3104C>G | |
16 | g.50729824C>T | CA495479022 | NOD2 | c.*6C>T (n.*6C>T) c.*657C>T (n.*657C>T) n.2370C>T c.2892C>T (p.Ser964=) c.2973C>T (p.Ser991=) c.2808C>T (p.Ser936=) c.2469C>T (p.Ser823=) c.2307C>T (p.Ser769=) c.2400C>T (p.Ser800=) n.3104C>T | dbSNP |
16 | g.50729825A>C | CA395876649 | NOD2 | c.*7A>C (n.*7A>C) c.*658A>C (n.*658A>C) n.2371A>C c.2893A>C (p.Asn965His) c.2974A>C (p.Asn992His) c.2809A>C (p.Asn937His) c.2470A>C (p.Asn824His) c.2308A>C (p.Asn770His) c.2401A>C (p.Asn801His) n.3105A>C | |
16 | g.50729825A>G | CA395876651 | NOD2 | c.*7A>G (n.*7A>G) c.*658A>G (n.*658A>G) n.2371A>G c.2893A>G (p.Asn965Asp) c.2974A>G (p.Asn992Asp) c.2809A>G (p.Asn937Asp) c.2470A>G (p.Asn824Asp) c.2308A>G (p.Asn770Asp) c.2401A>G (p.Asn801Asp) n.3105A>G | |
16 | g.50729825A>T | CA395876652 | NOD2 | c.*7A>T (n.*7A>T) c.*658A>T (n.*658A>T) n.2371A>T c.2893A>T (p.Asn965Tyr) c.2974A>T (p.Asn992Tyr) c.2809A>T (p.Asn937Tyr) c.2470A>T (p.Asn824Tyr) c.2308A>T (p.Asn770Tyr) c.2401A>T (p.Asn801Tyr) n.3105A>T | COSMIC |
16 | g.50729826A>C | CA395876658 | NOD2 | c.*8A>C (n.*8A>C) c.*659A>C (n.*659A>C) n.2372A>C c.2894A>C (p.Asn965Thr) c.2975A>C (p.Asn992Thr) c.2810A>C (p.Asn937Thr) c.2471A>C (p.Asn824Thr) c.2309A>C (p.Asn770Thr) c.2402A>C (p.Asn801Thr) n.3106A>C | |
16 | g.50729826A>G | CA395876655 | NOD2 | c.*8A>G (n.*8A>G) c.*659A>G (n.*659A>G) n.2372A>G c.2894A>G (p.Asn965Ser) c.2975A>G (p.Asn992Ser) c.2810A>G (p.Asn937Ser) c.2471A>G (p.Asn824Ser) c.2309A>G (p.Asn770Ser) c.2402A>G (p.Asn801Ser) n.3106A>G | ClinVar |
16 | g.50729826A>T | CA395876656 | NOD2 | c.*8A>T (n.*8A>T) c.*659A>T (n.*659A>T) n.2372A>T c.2894A>T (p.Asn965Ile) c.2975A>T (p.Asn992Ile) c.2810A>T (p.Asn937Ile) c.2471A>T (p.Asn824Ile) c.2309A>T (p.Asn770Ile) c.2402A>T (p.Asn801Ile) n.3106A>T | |
16 | g.50729827T>A | CA395876660 | NOD2 | c.*9T>A (n.*9T>A) c.*660T>A (n.*660T>A) n.2373T>A c.2895T>A (p.Asn965Lys) c.2976T>A (p.Asn992Lys) c.2811T>A (p.Asn937Lys) c.2472T>A (p.Asn824Lys) c.2310T>A (p.Asn770Lys) c.2403T>A (p.Asn801Lys) n.3107T>A | |
16 | g.50729827T>C | CA495479039 | NOD2 | c.*9T>C (n.*9T>C) c.*660T>C (n.*660T>C) n.2373T>C c.2895T>C (p.Asn965=) c.2976T>C (p.Asn992=) c.2811T>C (p.Asn937=) c.2472T>C (p.Asn824=) c.2310T>C (p.Asn770=) c.2403T>C (p.Asn801=) n.3107T>C | |
16 | g.50729827T>G | CA395876662 | NOD2 | c.*9T>G (n.*9T>G) c.*660T>G (n.*660T>G) n.2373T>G c.2895T>G (p.Asn965Lys) c.2976T>G (p.Asn992Lys) c.2811T>G (p.Asn937Lys) c.2472T>G (p.Asn824Lys) c.2310T>G (p.Asn770Lys) c.2403T>G (p.Asn801Lys) n.3107T>G | |
16 | g.50729828A= | CA2221867188 | NOD2 | c.*10A= (n.*10A=) c.*661A= (n.*661A=) n.2374A= c.2896A= (p.Asn966=) c.2977A= (p.Asn993=) c.2812A= (p.Asn938=) c.2473A= (p.Asn825=) c.2311A= (p.Asn771=) c.2404A= (p.Asn802=) n.3108A= | |
16 | g.50729828A>C | CA395876664 | NOD2 | c.*10A>C (n.*10A>C) c.*661A>C (n.*661A>C) n.2374A>C c.2896A>C (p.Asn966His) c.2977A>C (p.Asn993His) c.2812A>C (p.Asn938His) c.2473A>C (p.Asn825His) c.2311A>C (p.Asn771His) c.2404A>C (p.Asn802His) n.3108A>C | |
16 | g.50729828A>G | CA281283301 | NOD2 | c.*10A>G (n.*10A>G) c.*661A>G (n.*661A>G) n.2374A>G c.2896A>G (p.Asn966Asp) c.2977A>G (p.Asn993Asp) c.2812A>G (p.Asn938Asp) c.2473A>G (p.Asn825Asp) c.2311A>G (p.Asn771Asp) c.2404A>G (p.Asn802Asp) n.3108A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50729828A>T | CA395876667 | NOD2 | c.*10A>T (n.*10A>T) c.*661A>T (n.*661A>T) n.2374A>T c.2896A>T (p.Asn966Tyr) c.2977A>T (p.Asn993Tyr) c.2812A>T (p.Asn938Tyr) c.2473A>T (p.Asn825Tyr) c.2311A>T (p.Asn771Tyr) c.2404A>T (p.Asn802Tyr) n.3108A>T | |
16 | g.50729829A= | CA2221867189 | NOD2 | c.*11A= (n.*11A=) c.*662A= (n.*662A=) n.2375A= c.2897A= (p.Asn966=) c.2978A= (p.Asn993=) c.2813A= (p.Asn938=) c.2474A= (p.Asn825=) c.2312A= (p.Asn771=) c.2405A= (p.Asn802=) n.3109A= | |
16 | g.50729829A>C | CA8052042 | NOD2 | c.*11A>C (n.*11A>C) c.*662A>C (n.*662A>C) n.2375A>C c.2897A>C (p.Asn966Thr) c.2978A>C (p.Asn993Thr) c.2813A>C (p.Asn938Thr) c.2474A>C (p.Asn825Thr) c.2312A>C (p.Asn771Thr) c.2405A>C (p.Asn802Thr) n.3109A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50729829A>G | CA281283323 | NOD2 | c.*11A>G (n.*11A>G) c.*662A>G (n.*662A>G) n.2375A>G c.2897A>G (p.Asn966Ser) c.2978A>G (p.Asn993Ser) c.2813A>G (p.Asn938Ser) c.2474A>G (p.Asn825Ser) c.2312A>G (p.Asn771Ser) c.2405A>G (p.Asn802Ser) n.3109A>G | dbSNP gnomAD v4 |
16 | g.50729829A>T | CA395876670 | NOD2 | c.*11A>T (n.*11A>T) c.*662A>T (n.*662A>T) n.2375A>T c.2897A>T (p.Asn966Ile) c.2978A>T (p.Asn993Ile) c.2813A>T (p.Asn938Ile) c.2474A>T (p.Asn825Ile) c.2312A>T (p.Asn771Ile) c.2405A>T (p.Asn802Ile) n.3109A>T | |
16 | g.50729830C>A | CA395876672 | NOD2 | c.*12C>A (n.*12C>A) c.*663C>A (n.*663C>A) n.2376C>A c.2898C>A (p.Asn966Lys) c.2979C>A (p.Asn993Lys) c.2814C>A (p.Asn938Lys) c.2475C>A (p.Asn825Lys) c.2313C>A (p.Asn771Lys) c.2406C>A (p.Asn802Lys) n.3110C>A | |
16 | g.50729830C>G | CA395876674 | NOD2 | c.*12C>G (n.*12C>G) c.*663C>G (n.*663C>G) n.2376C>G c.2898C>G (p.Asn966Lys) c.2979C>G (p.Asn993Lys) c.2814C>G (p.Asn938Lys) c.2475C>G (p.Asn825Lys) c.2313C>G (p.Asn771Lys) c.2406C>G (p.Asn802Lys) n.3110C>G | |
16 | g.50729830C>T | CA495479050 | NOD2 | c.*12C>T (n.*12C>T) c.*663C>T (n.*663C>T) n.2376C>T c.2898C>T (p.Asn966=) c.2979C>T (p.Asn993=) c.2814C>T (p.Asn938=) c.2475C>T (p.Asn825=) c.2313C>T (p.Asn771=) c.2406C>T (p.Asn802=) n.3110C>T | |
16 | g.50729831T>A | CA395876677 | NOD2 | c.*13T>A (n.*13T>A) c.*664T>A (n.*664T>A) n.2377T>A c.2899T>A (p.Cys967Ser) c.2980T>A (p.Cys994Ser) c.2815T>A (p.Cys939Ser) c.2476T>A (p.Cys826Ser) c.2314T>A (p.Cys772Ser) c.2407T>A (p.Cys803Ser) n.3111T>A | |
16 | g.50729831T>C | CA395876678 | NOD2 | c.*13T>C (n.*13T>C) c.*664T>C (n.*664T>C) n.2377T>C c.2899T>C (p.Cys967Arg) c.2980T>C (p.Cys994Arg) c.2815T>C (p.Cys939Arg) c.2476T>C (p.Cys826Arg) c.2314T>C (p.Cys772Arg) c.2407T>C (p.Cys803Arg) n.3111T>C | |
16 | g.50729831T>G | CA395876680 | NOD2 | c.*13T>G (n.*13T>G) c.*664T>G (n.*664T>G) n.2377T>G c.2899T>G (p.Cys967Gly) c.2980T>G (p.Cys994Gly) c.2815T>G (p.Cys939Gly) c.2476T>G (p.Cys826Gly) c.2314T>G (p.Cys772Gly) c.2407T>G (p.Cys803Gly) n.3111T>G | |
16 | g.50729832G>A | CA395876687 | NOD2 | c.*14G>A (n.*14G>A) c.*665G>A (n.*665G>A) n.2378G>A c.2900G>A (p.Cys967Tyr) c.2981G>A (p.Cys994Tyr) c.2816G>A (p.Cys939Tyr) c.2477G>A (p.Cys826Tyr) c.2315G>A (p.Cys772Tyr) c.2408G>A (p.Cys803Tyr) n.3112G>A | dbSNP gnomAD v4 |
16 | g.50729832G>C | CA395876683 | NOD2 | c.*14G>C (n.*14G>C) c.*665G>C (n.*665G>C) n.2378G>C c.2900G>C (p.Cys967Ser) c.2981G>C (p.Cys994Ser) c.2816G>C (p.Cys939Ser) c.2477G>C (p.Cys826Ser) c.2315G>C (p.Cys772Ser) c.2408G>C (p.Cys803Ser) n.3112G>C | |
16 | g.50729832G= | CA2221867190 | NOD2 | c.*14G= (n.*14G=) c.*665G= (n.*665G=) n.2378G= c.2900G= (p.Cys967=) c.2981G= (p.Cys994=) c.2816G= (p.Cys939=) c.2477G= (p.Cys826=) c.2315G= (p.Cys772=) c.2408G= (p.Cys803=) n.3112G= | |
16 | g.50729832G>T | CA395876684 | NOD2 | c.*14G>T (n.*14G>T) c.*665G>T (n.*665G>T) n.2378G>T c.2900G>T (p.Cys967Phe) c.2981G>T (p.Cys994Phe) c.2816G>T (p.Cys939Phe) c.2477G>T (p.Cys826Phe) c.2315G>T (p.Cys772Phe) c.2408G>T (p.Cys803Phe) n.3112G>T | |
16 | g.50729833C>A | CA395876689 | NOD2 | c.*15C>A (n.*15C>A) c.*666C>A (n.*666C>A) n.2379C>A c.2901C>A (p.Cys967Ter) c.2982C>A (p.Cys994Ter) c.2817C>A (p.Cys939Ter) c.2478C>A (p.Cys826Ter) c.2316C>A (p.Cys772Ter) c.2409C>A (p.Cys803Ter) n.3113C>A | |
16 | g.50729833C= | CA2221867191 | NOD2 | c.*15C= (n.*15C=) c.*666C= (n.*666C=) n.2379C= c.2901C= (p.Cys967=) c.2982C= (p.Cys994=) c.2817C= (p.Cys939=) c.2478C= (p.Cys826=) c.2316C= (p.Cys772=) c.2409C= (p.Cys803=) n.3113C= | |
16 | g.50729833C>G | CA395876691 | NOD2 | c.*15C>G (n.*15C>G) c.*666C>G (n.*666C>G) n.2379C>G c.2901C>G (p.Cys967Trp) c.2982C>G (p.Cys994Trp) c.2817C>G (p.Cys939Trp) c.2478C>G (p.Cys826Trp) c.2316C>G (p.Cys772Trp) c.2409C>G (p.Cys803Trp) n.3113C>G | |
16 | g.50729833C>T | CA495479061 | NOD2 | c.*15C>T (n.*15C>T) c.*666C>T (n.*666C>T) n.2379C>T c.2901C>T (p.Cys967=) c.2982C>T (p.Cys994=) c.2817C>T (p.Cys939=) c.2478C>T (p.Cys826=) c.2316C>T (p.Cys772=) c.2409C>T (p.Cys803=) n.3113C>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.50729834A= | CA2221867192 | NOD2 | c.*16A= (n.*16A=) c.*667A= (n.*667A=) n.2380A= c.2902A= (p.Ile968=) c.2983A= (p.Ile995=) c.2818A= (p.Ile940=) c.2479A= (p.Ile827=) c.2317A= (p.Ile773=) c.2410A= (p.Ile804=) n.3114A= | |
16 | g.50729834A>C | CA395876693 | NOD2 | c.*16A>C (n.*16A>C) c.*667A>C (n.*667A>C) n.2380A>C c.2902A>C (p.Ile968Leu) c.2983A>C (p.Ile995Leu) c.2818A>C (p.Ile940Leu) c.2479A>C (p.Ile827Leu) c.2317A>C (p.Ile773Leu) c.2410A>C (p.Ile804Leu) n.3114A>C | |
16 | g.50729834A>G | CA8052043 | NOD2 | c.*16A>G (n.*16A>G) c.*667A>G (n.*667A>G) n.2380A>G c.2902A>G (p.Ile968Val) c.2983A>G (p.Ile995Val) c.2818A>G (p.Ile940Val) c.2479A>G (p.Ile827Val) c.2317A>G (p.Ile773Val) c.2410A>G (p.Ile804Val) n.3114A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50729834A>T | CA395876696 | NOD2 | c.*16A>T (n.*16A>T) c.*667A>T (n.*667A>T) n.2380A>T c.2902A>T (p.Ile968Phe) c.2983A>T (p.Ile995Phe) c.2818A>T (p.Ile940Phe) c.2479A>T (p.Ile827Phe) c.2317A>T (p.Ile773Phe) c.2410A>T (p.Ile804Phe) n.3114A>T | |
16 | g.50729835T>A | CA395876698 | NOD2 | c.*17T>A (n.*17T>A) c.*668T>A (n.*668T>A) n.2381T>A c.2903T>A (p.Ile968Asn) c.2984T>A (p.Ile995Asn) c.2819T>A (p.Ile940Asn) c.2480T>A (p.Ile827Asn) c.2318T>A (p.Ile773Asn) c.2411T>A (p.Ile804Asn) n.3115T>A | |
16 | g.50729835T>C | CA395876700 | NOD2 | c.*17T>C (n.*17T>C) c.*668T>C (n.*668T>C) n.2381T>C c.2903T>C (p.Ile968Thr) c.2984T>C (p.Ile995Thr) c.2819T>C (p.Ile940Thr) c.2480T>C (p.Ile827Thr) c.2318T>C (p.Ile773Thr) c.2411T>C (p.Ile804Thr) n.3115T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50729835T>G | CA395876702 | NOD2 | c.*17T>G (n.*17T>G) c.*668T>G (n.*668T>G) n.2381T>G c.2903T>G (p.Ile968Ser) c.2984T>G (p.Ile995Ser) c.2819T>G (p.Ile940Ser) c.2480T>G (p.Ile827Ser) c.2318T>G (p.Ile773Ser) c.2411T>G (p.Ile804Ser) n.3115T>G | |
16 | g.50729835T= | CA2221867193 | NOD2 | c.*17T= (n.*17T=) c.*668T= (n.*668T=) n.2381T= c.2903T= (p.Ile968=) c.2984T= (p.Ile995=) c.2819T= (p.Ile940=) c.2480T= (p.Ile827=) c.2318T= (p.Ile773=) c.2411T= (p.Ile804=) n.3115T= | |
16 | g.50729836C>A | CA495479071 | NOD2 | c.*18C>A (n.*18C>A) c.*669C>A (n.*669C>A) n.2382C>A c.2904C>A (p.Ile968=) c.2985C>A (p.Ile995=) c.2820C>A (p.Ile940=) c.2481C>A (p.Ile827=) c.2319C>A (p.Ile773=) c.2412C>A (p.Ile804=) n.3116C>A | |
16 | g.50729836C>G | CA395876703 | NOD2 | c.*18C>G (n.*18C>G) c.*669C>G (n.*669C>G) n.2382C>G c.2904C>G (p.Ile968Met) c.2985C>G (p.Ile995Met) c.2820C>G (p.Ile940Met) c.2481C>G (p.Ile827Met) c.2319C>G (p.Ile773Met) c.2412C>G (p.Ile804Met) n.3116C>G | |
16 | g.50729836C>T | CA495479079 | NOD2 | c.*18C>T (n.*18C>T) c.*669C>T (n.*669C>T) n.2382C>T c.2904C>T (p.Ile968=) c.2985C>T (p.Ile995=) c.2820C>T (p.Ile940=) c.2481C>T (p.Ile827=) c.2319C>T (p.Ile773=) c.2412C>T (p.Ile804=) n.3116C>T | |
16 | g.50729837A>C | CA395876705 | NOD2 | c.*19A>C (n.*19A>C) c.*670A>C (n.*670A>C) n.2383A>C c.2905A>C (p.Thr969Pro) c.2986A>C (p.Thr996Pro) c.2821A>C (p.Thr941Pro) c.2482A>C (p.Thr828Pro) c.2320A>C (p.Thr774Pro) c.2413A>C (p.Thr805Pro) n.3117A>C | |
16 | g.50729837A>G | CA395876706 | NOD2 | c.*19A>G (n.*19A>G) c.*670A>G (n.*670A>G) n.2383A>G c.2905A>G (p.Thr969Ala) c.2986A>G (p.Thr996Ala) c.2821A>G (p.Thr941Ala) c.2482A>G (p.Thr828Ala) c.2320A>G (p.Thr774Ala) c.2413A>G (p.Thr805Ala) n.3117A>G | |
16 | g.50729837A>T | CA395876708 | NOD2 | c.*19A>T (n.*19A>T) c.*670A>T (n.*670A>T) n.2383A>T c.2905A>T (p.Thr969Ser) c.2986A>T (p.Thr996Ser) c.2821A>T (p.Thr941Ser) c.2482A>T (p.Thr828Ser) c.2320A>T (p.Thr774Ser) c.2413A>T (p.Thr805Ser) n.3117A>T | |
16 | g.50729838C>A | CA395876709 | NOD2 | c.*20C>A (n.*20C>A) c.*671C>A (n.*671C>A) n.2384C>A c.2906C>A (p.Thr969Asn) c.2987C>A (p.Thr996Asn) c.2822C>A (p.Thr941Asn) c.2483C>A (p.Thr828Asn) c.2321C>A (p.Thr774Asn) c.2414C>A (p.Thr805Asn) n.3118C>A | dbSNP |
16 | g.50729838C= | CA2221867194 | NOD2 | c.*20C= (n.*20C=) c.*671C= (n.*671C=) n.2384C= c.2906C= (p.Thr969=) c.2987C= (p.Thr996=) c.2822C= (p.Thr941=) c.2483C= (p.Thr828=) c.2321C= (p.Thr774=) c.2414C= (p.Thr805=) n.3118C= | |
16 | g.50729838C>G | CA395876711 | NOD2 | c.*20C>G (n.*20C>G) c.*671C>G (n.*671C>G) n.2384C>G c.2906C>G (p.Thr969Ser) c.2987C>G (p.Thr996Ser) c.2822C>G (p.Thr941Ser) c.2483C>G (p.Thr828Ser) c.2321C>G (p.Thr774Ser) c.2414C>G (p.Thr805Ser) n.3118C>G | |
16 | g.50729838C>T | CA395876713 | NOD2 | c.*20C>T (n.*20C>T) c.*671C>T (n.*671C>T) n.2384C>T c.2906C>T (p.Thr969Ile) c.2987C>T (p.Thr996Ile) c.2822C>T (p.Thr941Ile) c.2483C>T (p.Thr828Ile) c.2321C>T (p.Thr774Ile) c.2414C>T (p.Thr805Ile) n.3118C>T | ClinVar dbSNP gnomAD v4 |
16 | g.50729839del | CA2633167506 | NOD2 | c.*21del (n.*21del) c.*672del (n.*672del) n.2385del c.2907del (p.Tyr970ThrfsTer2) c.2988del (p.Tyr997ThrfsTer2) c.2823del (p.Tyr942ThrfsTer2) c.2484del (p.Tyr829ThrfsTer2) c.2322del (p.Tyr775ThrfsTer2) c.2415del (p.Tyr806ThrfsTer2) n.3119del | gnomAD v4 |
16 | g.50729839C>A | CA495479090 | NOD2 | c.*21C>A (n.*21C>A) c.*672C>A (n.*672C>A) n.2385C>A c.2907C>A (p.Thr969=) c.2988C>A (p.Thr996=) c.2823C>A (p.Thr941=) c.2484C>A (p.Thr828=) c.2322C>A (p.Thr774=) c.2415C>A (p.Thr805=) n.3119C>A | |
16 | g.50729839C= | CA2221867195 | NOD2 | c.*21C= (n.*21C=) c.*672C= (n.*672C=) n.2385C= c.2907C= (p.Thr969=) c.2988C= (p.Thr996=) c.2823C= (p.Thr941=) c.2484C= (p.Thr828=) c.2322C= (p.Thr774=) c.2415C= (p.Thr805=) n.3119C= | |
16 | g.50729839C>G | CA495479093 | NOD2 | c.*21C>G (n.*21C>G) c.*672C>G (n.*672C>G) n.2385C>G c.2907C>G (p.Thr969=) c.2988C>G (p.Thr996=) c.2823C>G (p.Thr941=) c.2484C>G (p.Thr828=) c.2322C>G (p.Thr774=) c.2415C>G (p.Thr805=) n.3119C>G | |
16 | g.50729839C>T | CA495479095 | NOD2 | c.*21C>T (n.*21C>T) c.*672C>T (n.*672C>T) n.2385C>T c.2907C>T (p.Thr969=) c.2988C>T (p.Thr996=) c.2823C>T (p.Thr941=) c.2484C>T (p.Thr828=) c.2322C>T (p.Thr774=) c.2415C>T (p.Thr805=) n.3119C>T | dbSNP gnomAD v4 COSMIC |
16 | g.50729840T>A | CA395876714 | NOD2 | c.*22T>A (n.*22T>A) c.*673T>A (n.*673T>A) n.2386T>A c.2908T>A (p.Tyr970Asn) c.2989T>A (p.Tyr997Asn) c.2824T>A (p.Tyr942Asn) c.2485T>A (p.Tyr829Asn) c.2323T>A (p.Tyr775Asn) c.2416T>A (p.Tyr806Asn) n.3120T>A | gnomAD v4 |
16 | g.50729840T>C | CA395876718 | NOD2 | c.*22T>C (n.*22T>C) c.*673T>C (n.*673T>C) n.2386T>C c.2908T>C (p.Tyr970His) c.2989T>C (p.Tyr997His) c.2824T>C (p.Tyr942His) c.2485T>C (p.Tyr829His) c.2323T>C (p.Tyr775His) c.2416T>C (p.Tyr806His) n.3120T>C | dbSNP |
16 | g.50729840T>G | CA395876716 | NOD2 | c.*22T>G (n.*22T>G) c.*673T>G (n.*673T>G) n.2386T>G c.2908T>G (p.Tyr970Asp) c.2989T>G (p.Tyr997Asp) c.2824T>G (p.Tyr942Asp) c.2485T>G (p.Tyr829Asp) c.2323T>G (p.Tyr775Asp) c.2416T>G (p.Tyr806Asp) n.3120T>G | |
16 | g.50729840T= | CA2221867196 | NOD2 | c.*22T= (n.*22T=) c.*673T= (n.*673T=) n.2386T= c.2908T= (p.Tyr970=) c.2989T= (p.Tyr997=) c.2824T= (p.Tyr942=) c.2485T= (p.Tyr829=) c.2323T= (p.Tyr775=) c.2416T= (p.Tyr806=) n.3120T= | |
16 | g.50729841A>C | CA395876719 | NOD2 | c.*23A>C (n.*23A>C) c.*674A>C (n.*674A>C) n.2387A>C c.2909A>C (p.Tyr970Ser) c.2990A>C (p.Tyr997Ser) c.2825A>C (p.Tyr942Ser) c.2486A>C (p.Tyr829Ser) c.2324A>C (p.Tyr775Ser) c.2417A>C (p.Tyr806Ser) n.3121A>C | |
16 | g.50729841A>G | CA395876720 | NOD2 | c.*23A>G (n.*23A>G) c.*674A>G (n.*674A>G) n.2387A>G c.2909A>G (p.Tyr970Cys) c.2990A>G (p.Tyr997Cys) c.2825A>G (p.Tyr942Cys) c.2486A>G (p.Tyr829Cys) c.2324A>G (p.Tyr775Cys) c.2417A>G (p.Tyr806Cys) n.3121A>G | |
16 | g.50729841A>T | CA395876722 | NOD2 | c.*23A>T (n.*23A>T) c.*674A>T (n.*674A>T) n.2387A>T c.2909A>T (p.Tyr970Phe) c.2990A>T (p.Tyr997Phe) c.2825A>T (p.Tyr942Phe) c.2486A>T (p.Tyr829Phe) c.2324A>T (p.Tyr775Phe) c.2417A>T (p.Tyr806Phe) n.3121A>T | |
16 | g.50729842C>A | CA395876724 | NOD2 | c.*24C>A (n.*24C>A) c.*675C>A (n.*675C>A) n.2388C>A c.2910C>A (p.Tyr970Ter) c.2991C>A (p.Tyr997Ter) c.2826C>A (p.Tyr942Ter) c.2487C>A (p.Tyr829Ter) c.2325C>A (p.Tyr775Ter) c.2418C>A (p.Tyr806Ter) n.3122C>A | |
16 | g.50729842C>G | CA395876726 | NOD2 | c.*24C>G (n.*24C>G) c.*675C>G (n.*675C>G) n.2388C>G c.2910C>G (p.Tyr970Ter) c.2991C>G (p.Tyr997Ter) c.2826C>G (p.Tyr942Ter) c.2487C>G (p.Tyr829Ter) c.2325C>G (p.Tyr775Ter) c.2418C>G (p.Tyr806Ter) n.3122C>G | |
16 | g.50729842C>T | CA495479108 | NOD2 | c.*24C>T (n.*24C>T) c.*675C>T (n.*675C>T) n.2388C>T c.2910C>T (p.Tyr970=) c.2991C>T (p.Tyr997=) c.2826C>T (p.Tyr942=) c.2487C>T (p.Tyr829=) c.2325C>T (p.Tyr775=) c.2418C>T (p.Tyr806=) n.3122C>T | gnomAD v4 |
16 | g.50729843C>A | CA395876729 | NOD2 | c.*25C>A (n.*25C>A) c.*676C>A (n.*676C>A) n.2389C>A c.2911C>A (p.Leu971Ile) c.2992C>A (p.Leu998Ile) c.2827C>A (p.Leu943Ile) c.2488C>A (p.Leu830Ile) c.2326C>A (p.Leu776Ile) c.2419C>A (p.Leu807Ile) n.3123C>A | |
16 | g.50729843C= | CA2221867197 | NOD2 | c.*25C= (n.*25C=) c.*676C= (n.*676C=) n.2389C= c.2911C= (p.Leu971=) c.2992C= (p.Leu998=) c.2827C= (p.Leu943=) c.2488C= (p.Leu830=) c.2326C= (p.Leu776=) c.2419C= (p.Leu807=) n.3123C= | |
16 | g.50729843C>G | CA395876730 | NOD2 | c.*25C>G (n.*25C>G) c.*676C>G (n.*676C>G) n.2389C>G c.2911C>G (p.Leu971Val) c.2992C>G (p.Leu998Val) c.2827C>G (p.Leu943Val) c.2488C>G (p.Leu830Val) c.2326C>G (p.Leu776Val) c.2419C>G (p.Leu807Val) n.3123C>G | |
16 | g.50729843C>T | CA495479118 | NOD2 | c.*25C>T (n.*25C>T) c.*676C>T (n.*676C>T) n.2389C>T c.2911C>T (p.Leu971=) c.2992C>T (p.Leu998=) c.2827C>T (p.Leu943=) c.2488C>T (p.Leu830=) c.2326C>T (p.Leu776=) c.2419C>T (p.Leu807=) n.3123C>T | dbSNP |
16 | g.50729844T>A | CA395876732 | NOD2 | c.*26T>A (n.*26T>A) c.*677T>A (n.*677T>A) n.2390T>A c.2912T>A (p.Leu971Gln) c.2993T>A (p.Leu998Gln) c.2828T>A (p.Leu943Gln) c.2489T>A (p.Leu830Gln) c.2327T>A (p.Leu776Gln) c.2420T>A (p.Leu807Gln) n.3124T>A | |
16 | g.50729844T>C | CA395876734 | NOD2 | c.*26T>C (n.*26T>C) c.*677T>C (n.*677T>C) n.2390T>C c.2912T>C (p.Leu971Pro) c.2993T>C (p.Leu998Pro) c.2828T>C (p.Leu943Pro) c.2489T>C (p.Leu830Pro) c.2327T>C (p.Leu776Pro) c.2420T>C (p.Leu807Pro) n.3124T>C | |
16 | g.50729844T>G | CA395876736 | NOD2 | c.*26T>G (n.*26T>G) c.*677T>G (n.*677T>G) n.2390T>G c.2912T>G (p.Leu971Arg) c.2993T>G (p.Leu998Arg) c.2828T>G (p.Leu943Arg) c.2489T>G (p.Leu830Arg) c.2327T>G (p.Leu776Arg) c.2420T>G (p.Leu807Arg) n.3124T>G | |
16 | g.50729845A= | CA2221867198 | NOD2 | c.*27A= (n.*27A=) c.*678A= (n.*678A=) n.2391A= c.2913A= (p.Leu971=) c.2994A= (p.Leu998=) c.2829A= (p.Leu943=) c.2490A= (p.Leu830=) c.2328A= (p.Leu776=) c.2421A= (p.Leu807=) n.3125A= | |
16 | g.50729845A>C | CA8052044 | NOD2 | c.*27A>C (n.*27A>C) c.*678A>C (n.*678A>C) n.2391A>C c.2913A>C (p.Leu971=) c.2994A>C (p.Leu998=) c.2829A>C (p.Leu943=) c.2490A>C (p.Leu830=) c.2328A>C (p.Leu776=) c.2421A>C (p.Leu807=) n.3125A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50729845A>G | CA495479127 | NOD2 | c.*27A>G (n.*27A>G) c.*678A>G (n.*678A>G) n.2391A>G c.2913A>G (p.Leu971=) c.2994A>G (p.Leu998=) c.2829A>G (p.Leu943=) c.2490A>G (p.Leu830=) c.2328A>G (p.Leu776=) c.2421A>G (p.Leu807=) n.3125A>G | gnomAD v4 |
16 | g.50729845A>T | CA495479128 | NOD2 | c.*27A>T (n.*27A>T) c.*678A>T (n.*678A>T) n.2391A>T c.2913A>T (p.Leu971=) c.2994A>T (p.Leu998=) c.2829A>T (p.Leu943=) c.2490A>T (p.Leu830=) c.2328A>T (p.Leu776=) c.2421A>T (p.Leu807=) n.3125A>T | dbSNP gnomAD v3 gnomAD v4 |
16 | g.50729845_50729846delinsAG | CA2221867199 | NOD2 | c.*27_*28delinsAG (n.*27_*28delinsAG) c.*678_*679delinsAG (n.*678_*679delinsAG) n.2391_2392delinsAG c.2913_2914delinsAG (p.Leu971=) c.2994_2995delinsAG (p.Leu998=) c.2829_2830delinsAG (p.Leu943=) c.2490_2491delinsAG (p.Leu830=) c.2328_2329delinsAG (p.Leu776=) c.2421_2422delinsAG (p.Leu807=) n.3125_3126delinsAG | |
16 | g.50729846G>A | CA395876739 | NOD2 | c.*28G>A (n.*28G>A) c.*679G>A (n.*679G>A) n.2392G>A c.2914G>A (p.Gly972Arg) c.2995G>A (p.Gly999Arg) c.2830G>A (p.Gly944Arg) c.2491G>A (p.Gly831Arg) c.2329G>A (p.Gly777Arg) c.2422G>A (p.Gly808Arg) n.3126G>A | gnomAD v4 |
16 | g.50729846G>C | CA395876742 | NOD2 | c.*28G>C (n.*28G>C) c.*679G>C (n.*679G>C) n.2392G>C c.2914G>C (p.Gly972Arg) c.2995G>C (p.Gly999Arg) c.2830G>C (p.Gly944Arg) c.2491G>C (p.Gly831Arg) c.2329G>C (p.Gly777Arg) c.2422G>C (p.Gly808Arg) n.3126G>C | |
16 | g.50729846G>T | CA395876741 | NOD2 | c.*28G>T (n.*28G>T) c.*679G>T (n.*679G>T) n.2392G>T c.2914G>T (p.Gly972Trp) c.2995G>T (p.Gly999Trp) c.2830G>T (p.Gly944Trp) c.2491G>T (p.Gly831Trp) c.2329G>T (p.Gly777Trp) c.2422G>T (p.Gly808Trp) n.3126G>T | |
16 | g.50729849del | CA977236732 | NOD2 | c.*31del (n.*31del) c.*682del (n.*682del) n.2395del c.2917del (p.Ala973GlnfsTer26) c.2998del (p.Ala1000GlnfsTer26) c.2833del (p.Ala945GlnfsTer26) c.2494del (p.Ala832GlnfsTer26) c.2332del (p.Ala778GlnfsTer26) c.2425del (p.Ala809GlnfsTer26) n.3129del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.50729847G>A | CA395876744 | NOD2 | c.*29G>A (n.*29G>A) c.*680G>A (n.*680G>A) n.2393G>A c.2915G>A (p.Gly972Glu) c.2996G>A (p.Gly999Glu) c.2831G>A (p.Gly944Glu) c.2492G>A (p.Gly831Glu) c.2330G>A (p.Gly777Glu) c.2423G>A (p.Gly808Glu) n.3127G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.50729847G>C | CA395876748 | NOD2 | c.*29G>C (n.*29G>C) c.*680G>C (n.*680G>C) n.2393G>C c.2915G>C (p.Gly972Ala) c.2996G>C (p.Gly999Ala) c.2831G>C (p.Gly944Ala) c.2492G>C (p.Gly831Ala) c.2330G>C (p.Gly777Ala) c.2423G>C (p.Gly808Ala) n.3127G>C | ClinVar dbSNP gnomAD v4 |
16 | g.50729847G= | CA2221867200 | NOD2 | c.*29G= (n.*29G=) c.*680G= (n.*680G=) n.2393G= c.2915G= (p.Gly972=) c.2996G= (p.Gly999=) c.2831G= (p.Gly944=) c.2492G= (p.Gly831=) c.2330G= (p.Gly777=) c.2423G= (p.Gly808=) n.3127G= | |
16 | g.50729847G>T | CA395876746 | NOD2 | c.*29G>T (n.*29G>T) c.*680G>T (n.*680G>T) n.2393G>T c.2915G>T (p.Gly972Val) c.2996G>T (p.Gly999Val) c.2831G>T (p.Gly944Val) c.2492G>T (p.Gly831Val) c.2330G>T (p.Gly777Val) c.2423G>T (p.Gly808Val) n.3127G>T | |
16 | g.50729848G>A | CA495479148 | NOD2 | c.*30G>A (n.*30G>A) c.*681G>A (n.*681G>A) n.2394G>A c.2916G>A (p.Gly972=) c.2997G>A (p.Gly999=) c.2832G>A (p.Gly944=) c.2493G>A (p.Gly831=) c.2331G>A (p.Gly777=) c.2424G>A (p.Gly808=) n.3128G>A | dbSNP gnomAD v4 |
16 | g.50729848G>C | CA495479146 | NOD2 | c.*30G>C (n.*30G>C) c.*681G>C (n.*681G>C) n.2394G>C c.2916G>C (p.Gly972=) c.2997G>C (p.Gly999=) c.2832G>C (p.Gly944=) c.2493G>C (p.Gly831=) c.2331G>C (p.Gly777=) c.2424G>C (p.Gly808=) n.3128G>C | |
16 | g.50729848G= | CA2221867201 | NOD2 | c.*30G= (n.*30G=) c.*681G= (n.*681G=) n.2394G= c.2916G= (p.Gly972=) c.2997G= (p.Gly999=) c.2832G= (p.Gly944=) c.2493G= (p.Gly831=) c.2331G= (p.Gly777=) c.2424G= (p.Gly808=) n.3128G= | |
16 | g.50729848G>T | CA495479149 | NOD2 | c.*30G>T (n.*30G>T) c.*681G>T (n.*681G>T) n.2394G>T c.2916G>T (p.Gly972=) c.2997G>T (p.Gly999=) c.2832G>T (p.Gly944=) c.2493G>T (p.Gly831=) c.2331G>T (p.Gly777=) c.2424G>T (p.Gly808=) n.3128G>T | |
16 | g.50729849G>A | CA395876750 | NOD2 | c.*31G>A (n.*31G>A) c.*682G>A (n.*682G>A) n.2395G>A c.2917G>A (p.Ala973Thr) c.2998G>A (p.Ala1000Thr) c.2833G>A (p.Ala945Thr) c.2494G>A (p.Ala832Thr) c.2332G>A (p.Ala778Thr) c.2425G>A (p.Ala809Thr) n.3129G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50729849G>C | CA395876752 | NOD2 | c.*31G>C (n.*31G>C) c.*682G>C (n.*682G>C) n.2395G>C c.2917G>C (p.Ala973Pro) c.2998G>C (p.Ala1000Pro) c.2833G>C (p.Ala945Pro) c.2494G>C (p.Ala832Pro) c.2332G>C (p.Ala778Pro) c.2425G>C (p.Ala809Pro) n.3129G>C | |
16 | g.50729849G= | CA2221867202 | NOD2 | c.*31G= (n.*31G=) c.*682G= (n.*682G=) n.2395G= c.2917G= (p.Ala973=) c.2998G= (p.Ala1000=) c.2833G= (p.Ala945=) c.2494G= (p.Ala832=) c.2332G= (p.Ala778=) c.2425G= (p.Ala809=) n.3129G= | |
16 | g.50729849G>T | CA395876754 | NOD2 | c.*31G>T (n.*31G>T) c.*682G>T (n.*682G>T) n.2395G>T c.2917G>T (p.Ala973Ser) c.2998G>T (p.Ala1000Ser) c.2833G>T (p.Ala945Ser) c.2494G>T (p.Ala832Ser) c.2332G>T (p.Ala778Ser) c.2425G>T (p.Ala809Ser) n.3129G>T | gnomAD v4 COSMIC |
16 | g.50729850C>A | CA395876756 | NOD2 | c.*32C>A (n.*32C>A) c.*683C>A (n.*683C>A) n.2396C>A c.2918C>A (p.Ala973Glu) c.2999C>A (p.Ala1000Glu) c.2834C>A (p.Ala945Glu) c.2495C>A (p.Ala832Glu) c.2333C>A (p.Ala778Glu) c.2426C>A (p.Ala809Glu) n.3130C>A | dbSNP gnomAD v4 |
16 | g.50729850C= | CA2221867203 | NOD2 | c.*32C= (n.*32C=) c.*683C= (n.*683C=) n.2396C= c.2918C= (p.Ala973=) c.2999C= (p.Ala1000=) c.2834C= (p.Ala945=) c.2495C= (p.Ala832=) c.2333C= (p.Ala778=) c.2426C= (p.Ala809=) n.3130C= | |
16 | g.50729850C>G | CA395876757 | NOD2 | c.*32C>G (n.*32C>G) c.*683C>G (n.*683C>G) n.2396C>G c.2918C>G (p.Ala973Gly) c.2999C>G (p.Ala1000Gly) c.2834C>G (p.Ala945Gly) c.2495C>G (p.Ala832Gly) c.2333C>G (p.Ala778Gly) c.2426C>G (p.Ala809Gly) n.3130C>G | |
16 | g.50729850C>T | CA395876759 | NOD2 | c.*32C>T (n.*32C>T) c.*683C>T (n.*683C>T) n.2396C>T c.2918C>T (p.Ala973Val) c.2999C>T (p.Ala1000Val) c.2834C>T (p.Ala945Val) c.2495C>T (p.Ala832Val) c.2333C>T (p.Ala778Val) c.2426C>T (p.Ala809Val) n.3130C>T | gnomAD v4 |
16 | g.50729851A>C | CA495479154 | NOD2 | c.*33A>C (n.*33A>C) c.*684A>C (n.*684A>C) n.2397A>C c.2919A>C (p.Ala973=) c.3000A>C (p.Ala1000=) c.2835A>C (p.Ala945=) c.2496A>C (p.Ala832=) c.2334A>C (p.Ala778=) c.2427A>C (p.Ala809=) n.3131A>C | gnomAD v4 |
16 | g.50729851A>G | CA495479155 | NOD2 | c.*33A>G (n.*33A>G) c.*684A>G (n.*684A>G) n.2397A>G c.2919A>G (p.Ala973=) c.3000A>G (p.Ala1000=) c.2835A>G (p.Ala945=) c.2496A>G (p.Ala832=) c.2334A>G (p.Ala778=) c.2427A>G (p.Ala809=) n.3131A>G | |
16 | g.50729851A>T | CA495479157 | NOD2 | c.*33A>T (n.*33A>T) c.*684A>T (n.*684A>T) n.2397A>T c.2919A>T (p.Ala973=) c.3000A>T (p.Ala1000=) c.2835A>T (p.Ala945=) c.2496A>T (p.Ala832=) c.2334A>T (p.Ala778=) c.2427A>T (p.Ala809=) n.3131A>T | |
16 | g.50729852G>A | CA395876761 | NOD2 | c.*34G>A (n.*34G>A) c.*685G>A (n.*685G>A) n.2398G>A c.2920G>A (p.Glu974Lys) c.3001G>A (p.Glu1001Lys) c.2836G>A (p.Glu946Lys) c.2497G>A (p.Glu833Lys) c.2335G>A (p.Glu779Lys) c.2428G>A (p.Glu810Lys) n.3132G>A | |
16 | g.50729852G>C | CA395876762 | NOD2 | c.*34G>C (n.*34G>C) c.*685G>C (n.*685G>C) n.2398G>C c.2920G>C (p.Glu974Gln) c.3001G>C (p.Glu1001Gln) c.2836G>C (p.Glu946Gln) c.2497G>C (p.Glu833Gln) c.2335G>C (p.Glu779Gln) c.2428G>C (p.Glu810Gln) n.3132G>C | |
16 | g.50729852G>T | CA395876764 | NOD2 | c.*34G>T (n.*34G>T) c.*685G>T (n.*685G>T) n.2398G>T c.2920G>T (p.Glu974Ter) c.3001G>T (p.Glu1001Ter) c.2836G>T (p.Glu946Ter) c.2497G>T (p.Glu833Ter) c.2335G>T (p.Glu779Ter) c.2428G>T (p.Glu810Ter) n.3132G>T | |
16 | g.50729853A= | CA2221867204 | NOD2 | c.*35A= (n.*35A=) c.*686A= (n.*686A=) n.2399A= c.2921A= (p.Glu974=) c.3002A= (p.Glu1001=) c.2837A= (p.Glu946=) c.2498A= (p.Glu833=) c.2336A= (p.Glu779=) c.2429A= (p.Glu810=) n.3133A= | |
16 | g.50729853A>C | CA395876765 | NOD2 | c.*35A>C (n.*35A>C) c.*686A>C (n.*686A>C) n.2399A>C c.2921A>C (p.Glu974Ala) c.3002A>C (p.Glu1001Ala) c.2837A>C (p.Glu946Ala) c.2498A>C (p.Glu833Ala) c.2336A>C (p.Glu779Ala) c.2429A>C (p.Glu810Ala) n.3133A>C | |
16 | g.50729853A>G | CA395876767 | NOD2 | c.*35A>G (n.*35A>G) c.*686A>G (n.*686A>G) n.2399A>G c.2921A>G (p.Glu974Gly) c.3002A>G (p.Glu1001Gly) c.2837A>G (p.Glu946Gly) c.2498A>G (p.Glu833Gly) c.2336A>G (p.Glu779Gly) c.2429A>G (p.Glu810Gly) n.3133A>G | dbSNP gnomAD v4 COSMIC |
16 | g.50729853A>T | CA395876769 | NOD2 | c.*35A>T (n.*35A>T) c.*686A>T (n.*686A>T) n.2399A>T c.2921A>T (p.Glu974Val) c.3002A>T (p.Glu1001Val) c.2837A>T (p.Glu946Val) c.2498A>T (p.Glu833Val) c.2336A>T (p.Glu779Val) c.2429A>T (p.Glu810Val) n.3133A>T | |
16 | g.50729854A= | CA2221867205 | NOD2 | c.*36A= (n.*36A=) c.*687A= (n.*687A=) n.2400A= c.2922A= (p.Glu974=) c.3003A= (p.Glu1001=) c.2838A= (p.Glu946=) c.2499A= (p.Glu833=) c.2337A= (p.Glu779=) c.2430A= (p.Glu810=) n.3134A= | |
16 | g.50729854A>C | CA395876773 | NOD2 | c.*36A>C (n.*36A>C) c.*687A>C (n.*687A>C) n.2400A>C c.2922A>C (p.Glu974Asp) c.3003A>C (p.Glu1001Asp) c.2838A>C (p.Glu946Asp) c.2499A>C (p.Glu833Asp) c.2337A>C (p.Glu779Asp) c.2430A>C (p.Glu810Asp) n.3134A>C | |
16 | g.50729854A>G | CA495479169 | NOD2 | c.*36A>G (n.*36A>G) c.*687A>G (n.*687A>G) n.2400A>G c.2922A>G (p.Glu974=) c.3003A>G (p.Glu1001=) c.2838A>G (p.Glu946=) c.2499A>G (p.Glu833=) c.2337A>G (p.Glu779=) c.2430A>G (p.Glu810=) n.3134A>G | |
16 | g.50729854A>T | CA395876772 | NOD2 | c.*36A>T (n.*36A>T) c.*687A>T (n.*687A>T) n.2400A>T c.2922A>T (p.Glu974Asp) c.3003A>T (p.Glu1001Asp) c.2838A>T (p.Glu946Asp) c.2499A>T (p.Glu833Asp) c.2337A>T (p.Glu779Asp) c.2430A>T (p.Glu810Asp) n.3134A>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50729855G>A | CA395876775 | NOD2 | c.*37G>A (n.*37G>A) c.*688G>A (n.*688G>A) n.2401G>A c.2923G>A (p.Ala975Thr) c.3004G>A (p.Ala1002Thr) c.2839G>A (p.Ala947Thr) c.2500G>A (p.Ala834Thr) c.2338G>A (p.Ala780Thr) c.2431G>A (p.Ala811Thr) n.3135G>A | gnomAD v4 |
16 | g.50729855G>C | CA395876777 | NOD2 | c.*37G>C (n.*37G>C) c.*688G>C (n.*688G>C) n.2401G>C c.2923G>C (p.Ala975Pro) c.3004G>C (p.Ala1002Pro) c.2839G>C (p.Ala947Pro) c.2500G>C (p.Ala834Pro) c.2338G>C (p.Ala780Pro) c.2431G>C (p.Ala811Pro) n.3135G>C | |
16 | g.50729855G>T | CA395876779 | NOD2 | c.*37G>T (n.*37G>T) c.*688G>T (n.*688G>T) n.2401G>T c.2923G>T (p.Ala975Ser) c.3004G>T (p.Ala1002Ser) c.2839G>T (p.Ala947Ser) c.2500G>T (p.Ala834Ser) c.2338G>T (p.Ala780Ser) c.2431G>T (p.Ala811Ser) n.3135G>T | |
16 | g.50729856C>A | CA395876781 | NOD2 | c.*38C>A (n.*38C>A) c.*689C>A (n.*689C>A) n.2402C>A c.2924C>A (p.Ala975Asp) c.3005C>A (p.Ala1002Asp) c.2840C>A (p.Ala947Asp) c.2501C>A (p.Ala834Asp) c.2339C>A (p.Ala780Asp) c.2432C>A (p.Ala811Asp) n.3136C>A | |
16 | g.50729856C>G | CA395876783 | NOD2 | c.*38C>G (n.*38C>G) c.*689C>G (n.*689C>G) n.2402C>G c.2924C>G (p.Ala975Gly) c.3005C>G (p.Ala1002Gly) c.2840C>G (p.Ala947Gly) c.2501C>G (p.Ala834Gly) c.2339C>G (p.Ala780Gly) c.2432C>G (p.Ala811Gly) n.3136C>G | gnomAD v4 |
16 | g.50729856C>T | CA395876784 | NOD2 | c.*38C>T (n.*38C>T) c.*689C>T (n.*689C>T) n.2402C>T c.2924C>T (p.Ala975Val) c.3005C>T (p.Ala1002Val) c.2840C>T (p.Ala947Val) c.2501C>T (p.Ala834Val) c.2339C>T (p.Ala780Val) c.2432C>T (p.Ala811Val) n.3136C>T | gnomAD v4 |
16 | g.50729857C>A | CA495479182 | NOD2 | c.*39C>A (n.*39C>A) c.*690C>A (n.*690C>A) n.2403C>A c.2925C>A (p.Ala975=) c.3006C>A (p.Ala1002=) c.2841C>A (p.Ala947=) c.2502C>A (p.Ala834=) c.2340C>A (p.Ala780=) c.2433C>A (p.Ala811=) n.3137C>A | |
16 | g.50729857C= | CA2221867206 | NOD2 | c.*39C= (n.*39C=) c.*690C= (n.*690C=) n.2403C= c.2925C= (p.Ala975=) c.3006C= (p.Ala1002=) c.2841C= (p.Ala947=) c.2502C= (p.Ala834=) c.2340C= (p.Ala780=) c.2433C= (p.Ala811=) n.3137C= | |
16 | g.50729857C>G | CA495479183 | NOD2 | c.*39C>G (n.*39C>G) c.*690C>G (n.*690C>G) n.2403C>G c.2925C>G (p.Ala975=) c.3006C>G (p.Ala1002=) c.2841C>G (p.Ala947=) c.2502C>G (p.Ala834=) c.2340C>G (p.Ala780=) c.2433C>G (p.Ala811=) n.3137C>G | |
16 | g.50729857C>T | CA495479186 | NOD2 | c.*39C>T (n.*39C>T) c.*690C>T (n.*690C>T) n.2403C>T c.2925C>T (p.Ala975=) c.3006C>T (p.Ala1002=) c.2841C>T (p.Ala947=) c.2502C>T (p.Ala834=) c.2340C>T (p.Ala780=) c.2433C>T (p.Ala811=) n.3137C>T | dbSNP |
16 | g.50729858C>A | CA395876787 | NOD2 | c.*40C>A (n.*40C>A) c.*691C>A (n.*691C>A) n.2404C>A c.2926C>A (p.Leu976Ile) c.3007C>A (p.Leu1003Ile) c.2842C>A (p.Leu948Ile) c.2503C>A (p.Leu835Ile) c.2341C>A (p.Leu781Ile) c.2434C>A (p.Leu812Ile) n.3138C>A | |
16 | g.50729858C= | CA2221867207 | NOD2 | c.*40C= (n.*40C=) c.*691C= (n.*691C=) n.2404C= c.2926C= (p.Leu976=) c.3007C= (p.Leu1003=) c.2842C= (p.Leu948=) c.2503C= (p.Leu835=) c.2341C= (p.Leu781=) c.2434C= (p.Leu812=) n.3138C= | |
16 | g.50729858C>G | CA395876789 | NOD2 | c.*40C>G (n.*40C>G) c.*691C>G (n.*691C>G) n.2404C>G c.2926C>G (p.Leu976Val) c.3007C>G (p.Leu1003Val) c.2842C>G (p.Leu948Val) c.2503C>G (p.Leu835Val) c.2341C>G (p.Leu781Val) c.2434C>G (p.Leu812Val) n.3138C>G | |
16 | g.50729858C>T | CA8052045 | NOD2 | c.*40C>T (n.*40C>T) c.*691C>T (n.*691C>T) n.2404C>T c.2926C>T (p.Leu976Phe) c.3007C>T (p.Leu1003Phe) c.2842C>T (p.Leu948Phe) c.2503C>T (p.Leu835Phe) c.2341C>T (p.Leu781Phe) c.2434C>T (p.Leu812Phe) n.3138C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50729859T>A | CA395876791 | NOD2 | c.*41T>A (n.*41T>A) c.*692T>A (n.*692T>A) n.2405T>A c.2927T>A (p.Leu976His) c.3008T>A (p.Leu1003His) c.2843T>A (p.Leu948His) c.2504T>A (p.Leu835His) c.2342T>A (p.Leu781His) c.2435T>A (p.Leu812His) n.3139T>A | |
16 | g.50729859T>C | CA395876794 | NOD2 | c.*41T>C (n.*41T>C) c.*692T>C (n.*692T>C) n.2405T>C c.2927T>C (p.Leu976Pro) c.3008T>C (p.Leu1003Pro) c.2843T>C (p.Leu948Pro) c.2504T>C (p.Leu835Pro) c.2342T>C (p.Leu781Pro) c.2435T>C (p.Leu812Pro) n.3139T>C | |
16 | g.50729859T>G | CA395876795 | NOD2 | c.*41T>G (n.*41T>G) c.*692T>G (n.*692T>G) n.2405T>G c.2927T>G (p.Leu976Arg) c.3008T>G (p.Leu1003Arg) c.2843T>G (p.Leu948Arg) c.2504T>G (p.Leu835Arg) c.2342T>G (p.Leu781Arg) c.2435T>G (p.Leu812Arg) n.3139T>G | |
16 | g.50729860C>A | CA495479198 | NOD2 | c.*42C>A (n.*42C>A) c.*693C>A (n.*693C>A) n.2406C>A c.2928C>A (p.Leu976=) c.3009C>A (p.Leu1003=) c.2844C>A (p.Leu948=) c.2505C>A (p.Leu835=) c.2343C>A (p.Leu781=) c.2436C>A (p.Leu812=) n.3140C>A | |
16 | g.50729860C= | CA2221867208 | NOD2 | c.*42C= (n.*42C=) c.*693C= (n.*693C=) n.2406C= c.2928C= (p.Leu976=) c.3009C= (p.Leu1003=) c.2844C= (p.Leu948=) c.2505C= (p.Leu835=) c.2343C= (p.Leu781=) c.2436C= (p.Leu812=) n.3140C= | |
16 | g.50729860C>G | CA495479200 | NOD2 | c.*42C>G (n.*42C>G) c.*693C>G (n.*693C>G) n.2406C>G c.2928C>G (p.Leu976=) c.3009C>G (p.Leu1003=) c.2844C>G (p.Leu948=) c.2505C>G (p.Leu835=) c.2343C>G (p.Leu781=) c.2436C>G (p.Leu812=) n.3140C>G | gnomAD v4 |
16 | g.50729860C>T | CA495479204 | NOD2 | c.*42C>T (n.*42C>T) c.*693C>T (n.*693C>T) n.2406C>T c.2928C>T (p.Leu976=) c.3009C>T (p.Leu1003=) c.2844C>T (p.Leu948=) c.2505C>T (p.Leu835=) c.2343C>T (p.Leu781=) c.2436C>T (p.Leu812=) n.3140C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50729861C>A | CA395876797 | NOD2 | c.*43C>A (n.*43C>A) c.*694C>A (n.*694C>A) n.2407C>A c.2929C>A (p.Leu977Met) c.3010C>A (p.Leu1004Met) c.2845C>A (p.Leu949Met) c.2506C>A (p.Leu836Met) c.2344C>A (p.Leu782Met) c.2437C>A (p.Leu813Met) n.3141C>A | |
16 | g.50729861C= | CA2221867209 | NOD2 | c.*43C= (n.*43C=) c.*694C= (n.*694C=) n.2407C= c.2929C= (p.Leu977=) c.3010C= (p.Leu1004=) c.2845C= (p.Leu949=) c.2506C= (p.Leu836=) c.2344C= (p.Leu782=) c.2437C= (p.Leu813=) n.3141C= | |
16 | g.50729861C>G | CA8052046 | NOD2 | c.*43C>G (n.*43C>G) c.*694C>G (n.*694C>G) n.2407C>G c.2929C>G (p.Leu977Val) c.3010C>G (p.Leu1004Val) c.2845C>G (p.Leu949Val) c.2506C>G (p.Leu836Val) c.2344C>G (p.Leu782Val) c.2437C>G (p.Leu813Val) n.3141C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50729861C>T | CA495479209 | NOD2 | c.*43C>T (n.*43C>T) c.*694C>T (n.*694C>T) n.2407C>T c.2929C>T (p.Leu977=) c.3010C>T (p.Leu1004=) c.2845C>T (p.Leu949=) c.2506C>T (p.Leu836=) c.2344C>T (p.Leu782=) c.2437C>T (p.Leu813=) n.3141C>T | gnomAD v4 |
16 | g.50729862T>A | CA395876799 | NOD2 | c.*44T>A (n.*44T>A) c.*695T>A (n.*695T>A) n.2408T>A c.2930T>A (p.Leu977Gln) c.3011T>A (p.Leu1004Gln) c.2846T>A (p.Leu949Gln) c.2507T>A (p.Leu836Gln) c.2345T>A (p.Leu782Gln) c.2438T>A (p.Leu813Gln) n.3142T>A | |
16 | g.50729862T>C | CA395876801 | NOD2 | c.*44T>C (n.*44T>C) c.*695T>C (n.*695T>C) n.2408T>C c.2930T>C (p.Leu977Pro) c.3011T>C (p.Leu1004Pro) c.2846T>C (p.Leu949Pro) c.2507T>C (p.Leu836Pro) c.2345T>C (p.Leu782Pro) c.2438T>C (p.Leu813Pro) n.3142T>C | |
16 | g.50729862T>G | CA395876803 | NOD2 | c.*44T>G (n.*44T>G) c.*695T>G (n.*695T>G) n.2408T>G c.2930T>G (p.Leu977Arg) c.3011T>G (p.Leu1004Arg) c.2846T>G (p.Leu949Arg) c.2507T>G (p.Leu836Arg) c.2345T>G (p.Leu782Arg) c.2438T>G (p.Leu813Arg) n.3142T>G | |
16 | g.50729863G>A | CA8052047 | NOD2 | c.*45G>A (n.*45G>A) c.*696G>A (n.*696G>A) n.2409G>A c.2931G>A (p.Leu977=) c.3012G>A (p.Leu1004=) c.2847G>A (p.Leu949=) c.2508G>A (p.Leu836=) c.2346G>A (p.Leu782=) c.2439G>A (p.Leu813=) n.3143G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50729863G>C | CA495479218 | NOD2 | c.*45G>C (n.*45G>C) c.*696G>C (n.*696G>C) n.2409G>C c.2931G>C (p.Leu977=) c.3012G>C (p.Leu1004=) c.2847G>C (p.Leu949=) c.2508G>C (p.Leu836=) c.2346G>C (p.Leu782=) c.2439G>C (p.Leu813=) n.3143G>C | |
16 | g.50729863G= | CA2221867210 | NOD2 | c.*45G= (n.*45G=) c.*696G= (n.*696G=) n.2409G= c.2931G= (p.Leu977=) c.3012G= (p.Leu1004=) c.2847G= (p.Leu949=) c.2508G= (p.Leu836=) c.2346G= (p.Leu782=) c.2439G= (p.Leu813=) n.3143G= | |
16 | g.50729863G>T | CA495479217 | NOD2 | c.*45G>T (n.*45G>T) c.*696G>T (n.*696G>T) n.2409G>T c.2931G>T (p.Leu977=) c.3012G>T (p.Leu1004=) c.2847G>T (p.Leu949=) c.2508G>T (p.Leu836=) c.2346G>T (p.Leu782=) c.2439G>T (p.Leu813=) n.3143G>T | dbSNP gnomAD v4 |
16 | g.50729864C>A | CA395876806 | NOD2 | c.*46C>A (n.*46C>A) c.*697C>A (n.*697C>A) n.2410C>A c.2932C>A (p.Gln978Lys) c.3013C>A (p.Gln1005Lys) c.2848C>A (p.Gln950Lys) c.2509C>A (p.Gln837Lys) c.2347C>A (p.Gln783Lys) c.2440C>A (p.Gln814Lys) n.3144C>A | |
16 | g.50729864C>G | CA395876808 | NOD2 | c.*46C>G (n.*46C>G) c.*697C>G (n.*697C>G) n.2410C>G c.2932C>G (p.Gln978Glu) c.3013C>G (p.Gln1005Glu) c.2848C>G (p.Gln950Glu) c.2509C>G (p.Gln837Glu) c.2347C>G (p.Gln783Glu) c.2440C>G (p.Gln814Glu) n.3144C>G | |
16 | g.50729864C>T | CA395876810 | NOD2 | c.*46C>T (n.*46C>T) c.*697C>T (n.*697C>T) n.2410C>T c.2932C>T (p.Gln978Ter) c.3013C>T (p.Gln1005Ter) c.2848C>T (p.Gln950Ter) c.2509C>T (p.Gln837Ter) c.2347C>T (p.Gln783Ter) c.2440C>T (p.Gln814Ter) n.3144C>T | |
16 | g.50729865A>C | CA395876812 | NOD2 | c.*47A>C (n.*47A>C) c.*698A>C (n.*698A>C) n.2411A>C c.2933A>C (p.Gln978Pro) c.3014A>C (p.Gln1005Pro) c.2849A>C (p.Gln950Pro) c.2510A>C (p.Gln837Pro) c.2348A>C (p.Gln783Pro) c.2441A>C (p.Gln814Pro) n.3145A>C | |
16 | g.50729865A>G | CA395876814 | NOD2 | c.*47A>G (n.*47A>G) c.*698A>G (n.*698A>G) n.2411A>G c.2933A>G (p.Gln978Arg) c.3014A>G (p.Gln1005Arg) c.2849A>G (p.Gln950Arg) c.2510A>G (p.Gln837Arg) c.2348A>G (p.Gln783Arg) c.2441A>G (p.Gln814Arg) n.3145A>G | gnomAD v4 |
16 | g.50729865A>T | CA395876816 | NOD2 | c.*47A>T (n.*47A>T) c.*698A>T (n.*698A>T) n.2411A>T c.2933A>T (p.Gln978Leu) c.3014A>T (p.Gln1005Leu) c.2849A>T (p.Gln950Leu) c.2510A>T (p.Gln837Leu) c.2348A>T (p.Gln783Leu) c.2441A>T (p.Gln814Leu) n.3145A>T | |
16 | g.50729866G>A | CA495479236 | NOD2 | c.*48G>A (n.*48G>A) c.*699G>A (n.*699G>A) n.2412G>A c.2934G>A (p.Gln978=) c.3015G>A (p.Gln1005=) c.2850G>A (p.Gln950=) c.2511G>A (p.Gln837=) c.2349G>A (p.Gln783=) c.2442G>A (p.Gln814=) n.3146G>A | |
16 | g.50729866G>C | CA395876818 | NOD2 | c.*48G>C (n.*48G>C) c.*699G>C (n.*699G>C) n.2412G>C c.2934G>C (p.Gln978His) c.3015G>C (p.Gln1005His) c.2850G>C (p.Gln950His) c.2511G>C (p.Gln837His) c.2349G>C (p.Gln783His) c.2442G>C (p.Gln814His) n.3146G>C | |
16 | g.50729866G= | CA2221867211 | NOD2 | c.*48G= (n.*48G=) c.*699G= (n.*699G=) n.2412G= c.2934G= (p.Gln978=) c.3015G= (p.Gln1005=) c.2850G= (p.Gln950=) c.2511G= (p.Gln837=) c.2349G= (p.Gln783=) c.2442G= (p.Gln814=) n.3146G= | |
16 | g.50729866G>T | CA395876819 | NOD2 | c.*48G>T (n.*48G>T) c.*699G>T (n.*699G>T) n.2412G>T c.2934G>T (p.Gln978His) c.3015G>T (p.Gln1005His) c.2850G>T (p.Gln950His) c.2511G>T (p.Gln837His) c.2349G>T (p.Gln783His) c.2442G>T (p.Gln814His) n.3146G>T | |
16 | g.50729866_50729867insC | CA281283378 | NOD2 | c.*48_*49insC (n.*48_*49insC) c.*699_*700insC (n.*699_*700insC) n.2412_2413insC c.2934_2935insC (p.Ala979ArgfsTer3) c.3015_3016insC (p.Ala1006ArgfsTer3) c.2850_2851insC (p.Ala951ArgfsTer3) c.2511_2512insC (p.Ala838ArgfsTer3) c.2349_2350insC (p.Ala784ArgfsTer3) c.2442_2443insC (p.Ala815ArgfsTer3) n.3146_3147insC | dbSNP |
16 | g.50729867G>A | CA395876824 | NOD2 | c.*49G>A (n.*49G>A) c.*700G>A (n.*700G>A) n.2413G>A c.2935G>A (p.Ala979Thr) c.3016G>A (p.Ala1006Thr) c.2851G>A (p.Ala951Thr) c.2512G>A (p.Ala838Thr) c.2350G>A (p.Ala784Thr) c.2443G>A (p.Ala815Thr) n.3147G>A | dbSNP gnomAD v4 |
16 | g.50729867G>C | CA281283383 | NOD2 | c.*49G>C (n.*49G>C) c.*700G>C (n.*700G>C) n.2413G>C c.2935G>C (p.Ala979Pro) c.3016G>C (p.Ala1006Pro) c.2851G>C (p.Ala951Pro) c.2512G>C (p.Ala838Pro) c.2350G>C (p.Ala784Pro) c.2443G>C (p.Ala815Pro) n.3147G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.50729867G= | CA2221867213 | NOD2 | c.*49G= (n.*49G=) c.*700G= (n.*700G=) n.2413G= c.2935G= (p.Ala979=) c.3016G= (p.Ala1006=) c.2851G= (p.Ala951=) c.2512G= (p.Ala838=) c.2350G= (p.Ala784=) c.2443G= (p.Ala815=) n.3147G= | |
16 | g.50729867G>T | CA395876822 | NOD2 | c.*49G>T (n.*49G>T) c.*700G>T (n.*700G>T) n.2413G>T c.2935G>T (p.Ala979Ser) c.3016G>T (p.Ala1006Ser) c.2851G>T (p.Ala951Ser) c.2512G>T (p.Ala838Ser) c.2350G>T (p.Ala784Ser) c.2443G>T (p.Ala815Ser) n.3147G>T | gnomAD v4 |
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 | |
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 |
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 |
16 | g.50729897G>C | CA395876953 | NOD2 | c.*79G>C (n.*79G>C) c.*730G>C (n.*730G>C) n.2443G>C c.2965G>C (p.Val989Leu) c.3046G>C (p.Val1016Leu) c.2881G>C (p.Val961Leu) c.2542G>C (p.Val848Leu) c.2380G>C (p.Val794Leu) c.2473G>C (p.Val825Leu) n.3177G>C | |
16 | g.50729897G= | CA2221867225 | NOD2 | c.*79G= (n.*79G=) c.*730G= (n.*730G=) n.2443G= c.2965G= (p.Val989=) c.3046G= (p.Val1016=) c.2881G= (p.Val961=) c.2542G= (p.Val848=) c.2380G= (p.Val794=) c.2473G= (p.Val825=) n.3177G= | |
16 | g.50729897G>T | CA395876955 | NOD2 | c.*79G>T (n.*79G>T) c.*730G>T (n.*730G>T) n.2443G>T c.2965G>T (p.Val989Phe) c.3046G>T (p.Val1016Phe) c.2881G>T (p.Val961Phe) c.2542G>T (p.Val848Phe) c.2380G>T (p.Val794Phe) c.2473G>T (p.Val825Phe) n.3177G>T | |
16 | g.50729898T>A | CA395876957 | NOD2 | c.*80T>A (n.*80T>A) c.*731T>A (n.*731T>A) n.2444T>A c.2966T>A (p.Val989Asp) c.3047T>A (p.Val1016Asp) c.2882T>A (p.Val961Asp) c.2543T>A (p.Val848Asp) c.2381T>A (p.Val794Asp) c.2474T>A (p.Val825Asp) n.3178T>A | |
16 | g.50729898T>C | CA395876959 | NOD2 | c.*80T>C (n.*80T>C) c.*731T>C (n.*731T>C) n.2444T>C c.2966T>C (p.Val989Ala) c.3047T>C (p.Val1016Ala) c.2882T>C (p.Val961Ala) c.2543T>C (p.Val848Ala) c.2381T>C (p.Val794Ala) c.2474T>C (p.Val825Ala) n.3178T>C | |
16 | g.50729898T>G | CA395876960 | NOD2 | c.*80T>G (n.*80T>G) c.*731T>G (n.*731T>G) n.2444T>G c.2966T>G (p.Val989Gly) c.3047T>G (p.Val1016Gly) c.2882T>G (p.Val961Gly) c.2543T>G (p.Val848Gly) c.2381T>G (p.Val794Gly) c.2474T>G (p.Val825Gly) n.3178T>G | |
16 | g.50729899C>A | CA495479399 | NOD2 | c.*81C>A (n.*81C>A) c.*732C>A (n.*732C>A) n.2445C>A c.2967C>A (p.Val989=) c.3048C>A (p.Val1016=) c.2883C>A (p.Val961=) c.2544C>A (p.Val848=) c.2382C>A (p.Val794=) c.2475C>A (p.Val825=) n.3179C>A | gnomAD v4 |
16 | g.50729899C>G | CA495479401 | NOD2 | c.*81C>G (n.*81C>G) c.*732C>G (n.*732C>G) n.2445C>G c.2967C>G (p.Val989=) c.3048C>G (p.Val1016=) c.2883C>G (p.Val961=) c.2544C>G (p.Val848=) c.2382C>G (p.Val794=) c.2475C>G (p.Val825=) n.3179C>G | |
16 | g.50729899C>T | CA495479405 | NOD2 | c.*81C>T (n.*81C>T) c.*732C>T (n.*732C>T) n.2445C>T c.2967C>T (p.Val989=) c.3048C>T (p.Val1016=) c.2883C>T (p.Val961=) c.2544C>T (p.Val848=) c.2382C>T (p.Val794=) c.2475C>T (p.Val825=) n.3179C>T | |
16 | g.50729900T>A | CA395876965 | NOD2 | c.*82T>A (n.*82T>A) c.*733T>A (n.*733T>A) n.2446T>A c.2968T>A (p.Trp990Arg) c.3049T>A (p.Trp1017Arg) c.2884T>A (p.Trp962Arg) c.2545T>A (p.Trp849Arg) c.2383T>A (p.Trp795Arg) c.2476T>A (p.Trp826Arg) n.3180T>A | |
16 | g.50729900T>C | CA395876967 | NOD2 | c.*82T>C (n.*82T>C) c.*733T>C (n.*733T>C) n.2446T>C c.2968T>C (p.Trp990Arg) c.3049T>C (p.Trp1017Arg) c.2884T>C (p.Trp962Arg) c.2545T>C (p.Trp849Arg) c.2383T>C (p.Trp795Arg) c.2476T>C (p.Trp826Arg) n.3180T>C | dbSNP |
16 | g.50729900T>G | CA395876963 | NOD2 | c.*82T>G (n.*82T>G) c.*733T>G (n.*733T>G) n.2446T>G c.2968T>G (p.Trp990Gly) c.3049T>G (p.Trp1017Gly) c.2884T>G (p.Trp962Gly) c.2545T>G (p.Trp849Gly) c.2383T>G (p.Trp795Gly) c.2476T>G (p.Trp826Gly) n.3180T>G | |
16 | g.50729900T= | CA2221867226 | NOD2 | c.*82T= (n.*82T=) c.*733T= (n.*733T=) n.2446T= c.2968T= (p.Trp990=) c.3049T= (p.Trp1017=) c.2884T= (p.Trp962=) c.2545T= (p.Trp849=) c.2383T= (p.Trp795=) c.2476T= (p.Trp826=) n.3180T= | |
16 | g.50729900_50729901delinsTG | CA2221867227 | NOD2 | c.*82_*83delinsTG (n.*82_*83delinsTG) c.*733_*734delinsTG (n.*733_*734delinsTG) n.2446_2447delinsTG c.2968_2969delinsTG (p.Trp990=) c.3049_3050delinsTG (p.Trp1017=) c.2884_2885delinsTG (p.Trp962=) c.2545_2546delinsTG (p.Trp849=) c.2383_2384delinsTG (p.Trp795=) c.2476_2477delinsTG (p.Trp826=) n.3180_3181delinsTG | |
16 | g.50729901G>A | CA395876969 | NOD2 | c.*83G>A (n.*83G>A) c.*734G>A (n.*734G>A) n.2447G>A c.2969G>A (p.Trp990Ter) c.3050G>A (p.Trp1017Ter) c.2885G>A (p.Trp962Ter) c.2546G>A (p.Trp849Ter) c.2384G>A (p.Trp795Ter) c.2477G>A (p.Trp826Ter) n.3181G>A | |
16 | g.50729901G>C | CA395876973 | NOD2 | c.*83G>C (n.*83G>C) c.*734G>C (n.*734G>C) n.2447G>C c.2969G>C (p.Trp990Ser) c.3050G>C (p.Trp1017Ser) c.2885G>C (p.Trp962Ser) c.2546G>C (p.Trp849Ser) c.2384G>C (p.Trp795Ser) c.2477G>C (p.Trp826Ser) n.3181G>C | |
16 | g.50729901G>T | CA395876971 | NOD2 | c.*83G>T (n.*83G>T) c.*734G>T (n.*734G>T) n.2447G>T c.2969G>T (p.Trp990Leu) c.3050G>T (p.Trp1017Leu) c.2885G>T (p.Trp962Leu) c.2546G>T (p.Trp849Leu) c.2384G>T (p.Trp795Leu) c.2477G>T (p.Trp826Leu) n.3181G>T | |
16 | g.50729902del | CA2221867228 | NOD2 | c.*83+1del c.*734+1del n.2447+1del c.2969+1del c.3050+1del c.2885+1del c.2546+1del c.2384+1del c.2477+1del n.3181+1del | dbSNP |
16 | g.50729902G>A | CA281283444 | NOD2 | c.*83+1G>A (n.*83+1G>A) c.*734+1G>A (n.*734+1G>A) n.2447+1G>A c.2969+1G>A (n.2969+1G>A) c.3050+1G>A (n.3050+1G>A) c.2885+1G>A (n.2885+1G>A) c.2546+1G>A (n.2546+1G>A) c.2384+1G>A (n.2384+1G>A) c.2477+1G>A (n.2477+1G>A) n.3181+1G>A | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50729902G>C | CA395876975 | NOD2 | c.*83+1G>C (n.*83+1G>C) c.*734+1G>C (n.*734+1G>C) n.2447+1G>C c.2969+1G>C (n.2969+1G>C) c.3050+1G>C (n.3050+1G>C) c.2885+1G>C (n.2885+1G>C) c.2546+1G>C (n.2546+1G>C) c.2384+1G>C (n.2384+1G>C) c.2477+1G>C (n.2477+1G>C) n.3181+1G>C | |
16 | g.50729902G= | CA2221867229 | NOD2 | c.*83+1G= (n.*83+1G=) c.*734+1G= (n.*734+1G=) n.2447+1G= c.2969+1G= (n.2969+1G=) c.3050+1G= (n.3050+1G=) c.2885+1G= (n.2885+1G=) c.2546+1G= (n.2546+1G=) c.2384+1G= (n.2384+1G=) c.2477+1G= (n.2477+1G=) n.3181+1G= | |
16 | g.50729902G>T | CA395876977 | NOD2 | c.*83+1G>T (n.*83+1G>T) c.*734+1G>T (n.*734+1G>T) n.2447+1G>T c.2969+1G>T (n.2969+1G>T) c.3050+1G>T (n.3050+1G>T) c.2885+1G>T (n.2885+1G>T) c.2546+1G>T (n.2546+1G>T) c.2384+1G>T (n.2384+1G>T) c.2477+1G>T (n.2477+1G>T) n.3181+1G>T | |
16 | g.50729903T>A | CA395876979 | NOD2 | c.*83+2T>A (n.*83+2T>A) c.*734+2T>A (n.*734+2T>A) n.2447+2T>A c.2969+2T>A (n.2969+2T>A) c.3050+2T>A (n.3050+2T>A) c.2885+2T>A (n.2885+2T>A) c.2546+2T>A (n.2546+2T>A) c.2384+2T>A (n.2384+2T>A) c.2477+2T>A (n.2477+2T>A) n.3181+2T>A | |
16 | g.50729903T>C | CA395876981 | NOD2 | c.*83+2T>C (n.*83+2T>C) c.*734+2T>C (n.*734+2T>C) n.2447+2T>C c.2969+2T>C (n.2969+2T>C) c.3050+2T>C (n.3050+2T>C) c.2885+2T>C (n.2885+2T>C) c.2546+2T>C (n.2546+2T>C) c.2384+2T>C (n.2384+2T>C) c.2477+2T>C (n.2477+2T>C) n.3181+2T>C | |
16 | g.50729903T>G | CA395876983 | NOD2 | c.*83+2T>G (n.*83+2T>G) c.*734+2T>G (n.*734+2T>G) n.2447+2T>G c.2969+2T>G (n.2969+2T>G) c.3050+2T>G (n.3050+2T>G) c.2885+2T>G (n.2885+2T>G) c.2546+2T>G (n.2546+2T>G) c.2384+2T>G (n.2384+2T>G) c.2477+2T>G (n.2477+2T>G) n.3181+2T>G | |
16 | g.50729905del | CA2575991429 | NOD2 | c.*83+4del (n.*83+4del) c.*734+4del (n.*734+4del) n.2447+4del c.2969+4del (n.2969+4del) c.3050+4del (n.3050+4del) c.2885+4del (n.2885+4del) c.2546+4del (n.2546+4del) c.2384+4del (n.2384+4del) c.2477+4del (n.2477+4del) n.3181+4del | |
16 | g.50729907G= | CA2221867230 | NOD2 | c.*83+6G= (n.*83+6G=) c.*734+6G= (n.*734+6G=) n.2447+6G= c.2969+6G= (n.2969+6G=) c.3050+6G= (n.3050+6G=) c.2885+6G= (n.2885+6G=) c.2546+6G= (n.2546+6G=) c.2384+6G= (n.2384+6G=) c.2477+6G= (n.2477+6G=) n.3181+6G= | |
16 | g.50729907G>T | CA721363958 | NOD2 | c.*83+6G>T (n.*83+6G>T) c.*734+6G>T (n.*734+6G>T) n.2447+6G>T c.2969+6G>T (n.2969+6G>T) c.3050+6G>T (n.3050+6G>T) c.2885+6G>T (n.2885+6G>T) c.2546+6G>T (n.2546+6G>T) c.2384+6G>T (n.2384+6G>T) c.2477+6G>T (n.2477+6G>T) n.3181+6G>T | dbSNP |
16 | g.50729909C>A | CA2633167684 | NOD2 | c.*83+8C>A (n.*83+8C>A) c.*734+8C>A (n.*734+8C>A) n.2447+8C>A c.2969+8C>A (n.2969+8C>A) c.3050+8C>A (n.3050+8C>A) c.2885+8C>A (n.2885+8C>A) c.2546+8C>A (n.2546+8C>A) c.2384+8C>A (n.2384+8C>A) c.2477+8C>A (n.2477+8C>A) n.3181+8C>A | gnomAD v4 |
16 | g.50729909C= | CA2221867231 | NOD2 | c.*83+8C= (n.*83+8C=) c.*734+8C= (n.*734+8C=) n.2447+8C= c.2969+8C= (n.2969+8C=) c.3050+8C= (n.3050+8C=) c.2885+8C= (n.2885+8C=) c.2546+8C= (n.2546+8C=) c.2384+8C= (n.2384+8C=) c.2477+8C= (n.2477+8C=) n.3181+8C= | |
16 | g.50729909C>T | CA622235497 | NOD2 | c.*83+8C>T (n.*83+8C>T) c.*734+8C>T (n.*734+8C>T) n.2447+8C>T c.2969+8C>T (n.2969+8C>T) c.3050+8C>T (n.3050+8C>T) c.2885+8C>T (n.2885+8C>T) c.2546+8C>T (n.2546+8C>T) c.2384+8C>T (n.2384+8C>T) c.2477+8C>T (n.2477+8C>T) n.3181+8C>T | dbSNP gnomAD v2 gnomAD v4 |
16 | g.50729912del | CA2633167687 | NOD2 | c.*83+11del (n.*83+11del) c.*734+11del (n.*734+11del) n.2447+11del c.2969+11del (n.2969+11del) c.3050+11del (n.3050+11del) c.2885+11del (n.2885+11del) c.2546+11del (n.2546+11del) c.2384+11del (n.2384+11del) c.2477+11del (n.2477+11del) n.3181+11del | gnomAD v4 |
16 | g.50729912T>G | CA2807003166 | NOD2 | c.*83+11T>G (n.*83+11T>G) c.*734+11T>G (n.*734+11T>G) n.2447+11T>G c.2969+11T>G (n.2969+11T>G) c.3050+11T>G (n.3050+11T>G) c.2885+11T>G (n.2885+11T>G) c.2546+11T>G (n.2546+11T>G) c.2384+11T>G (n.2384+11T>G) c.2477+11T>G (n.2477+11T>G) n.3181+11T>G | |
16 | g.50729913G>A | CA977236749 | NOD2 | c.*83+12G>A (n.*83+12G>A) c.*734+12G>A (n.*734+12G>A) n.2447+12G>A c.2969+12G>A (n.2969+12G>A) c.3050+12G>A (n.3050+12G>A) c.2885+12G>A (n.2885+12G>A) c.2546+12G>A (n.2546+12G>A) c.2384+12G>A (n.2384+12G>A) c.2477+12G>A (n.2477+12G>A) n.3181+12G>A | dbSNP gnomAD v3 gnomAD v4 |
16 | g.50729913G= | CA2221867232 | NOD2 | c.*83+12G= (n.*83+12G=) c.*734+12G= (n.*734+12G=) n.2447+12G= c.2969+12G= (n.2969+12G=) c.3050+12G= (n.3050+12G=) c.2885+12G= (n.2885+12G=) c.2546+12G= (n.2546+12G=) c.2384+12G= (n.2384+12G=) c.2477+12G= (n.2477+12G=) n.3181+12G= | |
16 | g.50729914G>A | CA281283448 | NOD2 | c.*83+13G>A (n.*83+13G>A) c.*734+13G>A (n.*734+13G>A) n.2447+13G>A c.2969+13G>A (n.2969+13G>A) c.3050+13G>A (n.3050+13G>A) c.2885+13G>A (n.2885+13G>A) c.2546+13G>A (n.2546+13G>A) c.2384+13G>A (n.2384+13G>A) c.2477+13G>A (n.2477+13G>A) n.3181+13G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50729914G= | CA2221867233 | NOD2 | c.*83+13G= (n.*83+13G=) c.*734+13G= (n.*734+13G=) n.2447+13G= c.2969+13G= (n.2969+13G=) c.3050+13G= (n.3050+13G=) c.2885+13G= (n.2885+13G=) c.2546+13G= (n.2546+13G=) c.2384+13G= (n.2384+13G=) c.2477+13G= (n.2477+13G=) n.3181+13G= | |
16 | g.50729915G>A | CA2573152309 | NOD2 | c.*83+14G>A (n.*83+14G>A) c.*734+14G>A (n.*734+14G>A) n.2447+14G>A c.2969+14G>A (n.2969+14G>A) c.3050+14G>A (n.3050+14G>A) c.2885+14G>A (n.2885+14G>A) c.2546+14G>A (n.2546+14G>A) c.2384+14G>A (n.2384+14G>A) c.2477+14G>A (n.2477+14G>A) n.3181+14G>A | ClinVar dbSNP |