Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197434707T>A | CA344042923 | CRB1 | c.2844T>A (p.Cys948Ter) c.1725T>A (p.Cys575Ter) c.987T>A (p.Cys329Ter) c.2508T>A (p.Cys836Ter) c.2772T>A (p.Cys924Ter) c.2129-893T>A (n.2129-893T>A) n.2845T>A n.3053T>A c.2262T>A (p.Cys754Ter) c.1287T>A (p.Cys429Ter) c.2001T>A (p.Cys667Ter) c.2979T>A (p.Cys993Ter) n.2797T>A n.3005T>A | |
1 | g.197434707T>C | CA422672499 | CRB1 | c.2844T>C (p.Cys948=) c.1725T>C (p.Cys575=) c.987T>C (p.Cys329=) c.2508T>C (p.Cys836=) c.2772T>C (p.Cys924=) c.2129-893T>C (n.2129-893T>C) n.2845T>C n.3053T>C c.2262T>C (p.Cys754=) c.1287T>C (p.Cys429=) c.2001T>C (p.Cys667=) c.2979T>C (p.Cys993=) n.2797T>C n.3005T>C | |
1 | g.197434707T>G | CA344042925 | CRB1 | c.2844T>G (p.Cys948Trp) c.1725T>G (p.Cys575Trp) c.987T>G (p.Cys329Trp) c.2508T>G (p.Cys836Trp) c.2772T>G (p.Cys924Trp) c.2129-893T>G (n.2129-893T>G) n.2845T>G n.3053T>G c.2262T>G (p.Cys754Trp) c.1287T>G (p.Cys429Trp) c.2001T>G (p.Cys667Trp) c.2979T>G (p.Cys993Trp) n.2797T>G n.3005T>G | |
1 | g.197434708A>C | CA344042929 | CRB1 | c.2845A>C (p.Ile949Leu) c.1726A>C (p.Ile576Leu) c.988A>C (p.Ile330Leu) c.2509A>C (p.Ile837Leu) c.2773A>C (p.Ile925Leu) c.2129-892A>C (n.2129-892A>C) n.2846A>C n.3054A>C c.2263A>C (p.Ile755Leu) c.1288A>C (p.Ile430Leu) c.2002A>C (p.Ile668Leu) c.2980A>C (p.Ile994Leu) n.2798A>C n.3006A>C | |
1 | g.197434708A>G | CA344042933 | CRB1 | c.2845A>G (p.Ile949Val) c.1726A>G (p.Ile576Val) c.988A>G (p.Ile330Val) c.2509A>G (p.Ile837Val) c.2773A>G (p.Ile925Val) c.2129-892A>G (n.2129-892A>G) n.2846A>G n.3054A>G c.2263A>G (p.Ile755Val) c.1288A>G (p.Ile430Val) c.2002A>G (p.Ile668Val) c.2980A>G (p.Ile994Val) n.2798A>G n.3006A>G | dbSNP gnomAD v4 |
1 | g.197434708A>T | CA344042934 | CRB1 | c.2845A>T (p.Ile949Phe) c.1726A>T (p.Ile576Phe) c.988A>T (p.Ile330Phe) c.2509A>T (p.Ile837Phe) c.2773A>T (p.Ile925Phe) c.2129-892A>T (n.2129-892A>T) n.2846A>T n.3054A>T c.2263A>T (p.Ile755Phe) c.1288A>T (p.Ile430Phe) c.2002A>T (p.Ile668Phe) c.2980A>T (p.Ile994Phe) n.2798A>T n.3006A>T | |
1 | g.197434709T>A | CA344042935 | CRB1 | c.2846T>A (p.Ile949Asn) c.1727T>A (p.Ile576Asn) c.989T>A (p.Ile330Asn) c.2510T>A (p.Ile837Asn) c.2774T>A (p.Ile925Asn) c.2129-891T>A (n.2129-891T>A) n.2847T>A n.3055T>A c.2264T>A (p.Ile755Asn) c.1289T>A (p.Ile430Asn) c.2003T>A (p.Ile668Asn) c.2981T>A (p.Ile994Asn) n.2799T>A n.3007T>A | |
1 | g.197434709T>C | CA344042936 | CRB1 | c.2846T>C (p.Ile949Thr) c.1727T>C (p.Ile576Thr) c.989T>C (p.Ile330Thr) c.2510T>C (p.Ile837Thr) c.2774T>C (p.Ile925Thr) c.2129-891T>C (n.2129-891T>C) n.2847T>C n.3055T>C c.2264T>C (p.Ile755Thr) c.1289T>C (p.Ile430Thr) c.2003T>C (p.Ile668Thr) c.2981T>C (p.Ile994Thr) n.2799T>C n.3007T>C | |
1 | g.197434709T>G | CA344042937 | CRB1 | c.2846T>G (p.Ile949Ser) c.1727T>G (p.Ile576Ser) c.989T>G (p.Ile330Ser) c.2510T>G (p.Ile837Ser) c.2774T>G (p.Ile925Ser) c.2129-891T>G (n.2129-891T>G) n.2847T>G n.3055T>G c.2264T>G (p.Ile755Ser) c.1289T>G (p.Ile430Ser) c.2003T>G (p.Ile668Ser) c.2981T>G (p.Ile994Ser) n.2799T>G n.3007T>G | |
1 | g.197434710T>A | CA422672500 | CRB1 | c.2847T>A (p.Ile949=) c.1728T>A (p.Ile576=) c.990T>A (p.Ile330=) c.2511T>A (p.Ile837=) c.2775T>A (p.Ile925=) c.2129-890T>A (n.2129-890T>A) n.2848T>A n.3056T>A c.2265T>A (p.Ile755=) c.1290T>A (p.Ile430=) c.2004T>A (p.Ile668=) c.2982T>A (p.Ile994=) n.2800T>A n.3008T>A | ClinVar dbSNP |
1 | g.197434710T>C | CA422672501 | CRB1 | c.2847T>C (p.Ile949=) c.1728T>C (p.Ile576=) c.990T>C (p.Ile330=) c.2511T>C (p.Ile837=) c.2775T>C (p.Ile925=) c.2129-890T>C (n.2129-890T>C) n.2848T>C n.3056T>C c.2265T>C (p.Ile755=) c.1290T>C (p.Ile430=) c.2004T>C (p.Ile668=) c.2982T>C (p.Ile994=) n.2800T>C n.3008T>C | ClinVar gnomAD v4 |
1 | g.197434710T>G | CA344042938 | CRB1 | c.2847T>G (p.Ile949Met) c.1728T>G (p.Ile576Met) c.990T>G (p.Ile330Met) c.2511T>G (p.Ile837Met) c.2775T>G (p.Ile925Met) c.2129-890T>G (n.2129-890T>G) n.2848T>G n.3056T>G c.2265T>G (p.Ile755Met) c.1290T>G (p.Ile430Met) c.2004T>G (p.Ile668Met) c.2982T>G (p.Ile994Met) n.2800T>G n.3008T>G | |
1 | g.197434713_197434718del | CA2586967862 | CRB1 | c.2850_2855del (p.Asn951_Ala952del) c.1731_1736del (p.Asn578_Ala579del) c.993_998del (p.Asn332_Ala333del) c.2514_2519del (p.Asn839_Ala840del) c.2778_2783del (p.Asn927_Ala928del) c.2129-887_2129-882del (n.2129-887_2129-882del) n.2851_2856del n.3059_3064del c.2268_2273del (p.Asn757_Ala758del) c.1293_1298del (p.Asn432_Ala433del) c.2007_2012del (p.Asn670_Ala671del) c.2985_2990del (p.Asn996_Ala997del) n.2803_2808del n.3011_3016del | |
1 | g.197434711G>A | CA344042942 | CRB1 | c.2848G>A (p.Ala950Thr) c.1729G>A (p.Ala577Thr) c.991G>A (p.Ala331Thr) c.2512G>A (p.Ala838Thr) c.2776G>A (p.Ala926Thr) c.2129-889G>A (n.2129-889G>A) n.2849G>A n.3057G>A c.2266G>A (p.Ala756Thr) c.1291G>A (p.Ala431Thr) c.2005G>A (p.Ala669Thr) c.2983G>A (p.Ala995Thr) n.2801G>A n.3009G>A | gnomAD v4 |
1 | g.197434711G>C | CA344042940 | CRB1 | c.2848G>C (p.Ala950Pro) c.1729G>C (p.Ala577Pro) c.991G>C (p.Ala331Pro) c.2512G>C (p.Ala838Pro) c.2776G>C (p.Ala926Pro) c.2129-889G>C (n.2129-889G>C) n.2849G>C n.3057G>C c.2266G>C (p.Ala756Pro) c.1291G>C (p.Ala431Pro) c.2005G>C (p.Ala669Pro) c.2983G>C (p.Ala995Pro) n.2801G>C n.3009G>C | |
1 | g.197434711G>T | CA344042939 | CRB1 | c.2848G>T (p.Ala950Ser) c.1729G>T (p.Ala577Ser) c.991G>T (p.Ala331Ser) c.2512G>T (p.Ala838Ser) c.2776G>T (p.Ala926Ser) c.2129-889G>T (n.2129-889G>T) n.2849G>T n.3057G>T c.2266G>T (p.Ala756Ser) c.1291G>T (p.Ala431Ser) c.2005G>T (p.Ala669Ser) c.2983G>T (p.Ala995Ser) n.2801G>T n.3009G>T | |
1 | g.197434712C>A | CA344042952 | CRB1 | c.2849C>A (p.Ala950Glu) c.1730C>A (p.Ala577Glu) c.992C>A (p.Ala331Glu) c.2513C>A (p.Ala838Glu) c.2777C>A (p.Ala926Glu) c.2129-888C>A (n.2129-888C>A) n.2850C>A n.3058C>A c.2267C>A (p.Ala756Glu) c.1292C>A (p.Ala431Glu) c.2006C>A (p.Ala669Glu) c.2984C>A (p.Ala995Glu) n.2802C>A n.3010C>A | COSMIC COSMIC |
1 | g.197434712C= | CA1218068641 | CRB1 | c.2849C= (p.Ala950=) c.1730C= (p.Ala577=) c.992C= (p.Ala331=) c.2513C= (p.Ala838=) c.2777C= (p.Ala926=) c.2129-888C= (n.2129-888C=) n.2850C= n.3058C= c.2267C= (p.Ala756=) c.1292C= (p.Ala431=) c.2006C= (p.Ala669=) c.2984C= (p.Ala995=) n.2802C= n.3010C= | |
1 | g.197434712C>G | CA344042954 | CRB1 | c.2849C>G (p.Ala950Gly) c.1730C>G (p.Ala577Gly) c.992C>G (p.Ala331Gly) c.2513C>G (p.Ala838Gly) c.2777C>G (p.Ala926Gly) c.2129-888C>G (n.2129-888C>G) n.2850C>G n.3058C>G c.2267C>G (p.Ala756Gly) c.1292C>G (p.Ala431Gly) c.2006C>G (p.Ala669Gly) c.2984C>G (p.Ala995Gly) n.2802C>G n.3010C>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197434712C>T | CA344042957 | CRB1 | c.2849C>T (p.Ala950Val) c.1730C>T (p.Ala577Val) c.992C>T (p.Ala331Val) c.2513C>T (p.Ala838Val) c.2777C>T (p.Ala926Val) c.2129-888C>T (n.2129-888C>T) n.2850C>T n.3058C>T c.2267C>T (p.Ala756Val) c.1292C>T (p.Ala431Val) c.2006C>T (p.Ala669Val) c.2984C>T (p.Ala995Val) n.2802C>T n.3010C>T | ClinVar dbSNP gnomAD v4 |
1 | g.197434713A>C | CA422672502 | CRB1 | c.2850A>C (p.Ala950=) c.1731A>C (p.Ala577=) c.993A>C (p.Ala331=) c.2514A>C (p.Ala838=) c.2778A>C (p.Ala926=) c.2129-887A>C (n.2129-887A>C) n.2851A>C n.3059A>C c.2268A>C (p.Ala756=) c.1293A>C (p.Ala431=) c.2007A>C (p.Ala669=) c.2985A>C (p.Ala995=) n.2803A>C n.3011A>C | |
1 | g.197434713A>G | CA422672503 | CRB1 | c.2850A>G (p.Ala950=) c.1731A>G (p.Ala577=) c.993A>G (p.Ala331=) c.2514A>G (p.Ala838=) c.2778A>G (p.Ala926=) c.2129-887A>G (n.2129-887A>G) n.2851A>G n.3059A>G c.2268A>G (p.Ala756=) c.1293A>G (p.Ala431=) c.2007A>G (p.Ala669=) c.2985A>G (p.Ala995=) n.2803A>G n.3011A>G | gnomAD v4 |
1 | g.197434713A>T | CA422672504 | CRB1 | c.2850A>T (p.Ala950=) c.1731A>T (p.Ala577=) c.993A>T (p.Ala331=) c.2514A>T (p.Ala838=) c.2778A>T (p.Ala926=) c.2129-887A>T (n.2129-887A>T) n.2851A>T n.3059A>T c.2268A>T (p.Ala756=) c.1293A>T (p.Ala431=) c.2007A>T (p.Ala669=) c.2985A>T (p.Ala995=) n.2803A>T n.3011A>T | |
1 | g.197434714A>C | CA344042963 | CRB1 | c.2851A>C (p.Asn951His) c.1732A>C (p.Asn578His) c.994A>C (p.Asn332His) c.2515A>C (p.Asn839His) c.2779A>C (p.Asn927His) c.2129-886A>C (n.2129-886A>C) n.2852A>C n.3060A>C c.2269A>C (p.Asn757His) c.1294A>C (p.Asn432His) c.2008A>C (p.Asn670His) c.2986A>C (p.Asn996His) n.2804A>C n.3012A>C | |
1 | g.197434714A>G | CA344042965 | CRB1 | c.2851A>G (p.Asn951Asp) c.1732A>G (p.Asn578Asp) c.994A>G (p.Asn332Asp) c.2515A>G (p.Asn839Asp) c.2779A>G (p.Asn927Asp) c.2129-886A>G (n.2129-886A>G) n.2852A>G n.3060A>G c.2269A>G (p.Asn757Asp) c.1294A>G (p.Asn432Asp) c.2008A>G (p.Asn670Asp) c.2986A>G (p.Asn996Asp) n.2804A>G n.3012A>G | |
1 | g.197434714A>T | CA344042967 | CRB1 | c.2851A>T (p.Asn951Tyr) c.1732A>T (p.Asn578Tyr) c.994A>T (p.Asn332Tyr) c.2515A>T (p.Asn839Tyr) c.2779A>T (p.Asn927Tyr) c.2129-886A>T (n.2129-886A>T) n.2852A>T n.3060A>T c.2269A>T (p.Asn757Tyr) c.1294A>T (p.Asn432Tyr) c.2008A>T (p.Asn670Tyr) c.2986A>T (p.Asn996Tyr) n.2804A>T n.3012A>T | |
1 | g.197434715A= | CA1218068642 | CRB1 | c.2852A= (p.Asn951=) c.1733A= (p.Asn578=) c.995A= (p.Asn332=) c.2516A= (p.Asn839=) c.2780A= (p.Asn927=) c.2129-885A= (n.2129-885A=) n.2853A= n.3061A= c.2270A= (p.Asn757=) c.1295A= (p.Asn432=) c.2009A= (p.Asn670=) c.2987A= (p.Asn996=) n.2805A= n.3013A= | |
1 | g.197434715A>C | CA344042970 | CRB1 | c.2852A>C (p.Asn951Thr) c.1733A>C (p.Asn578Thr) c.995A>C (p.Asn332Thr) c.2516A>C (p.Asn839Thr) c.2780A>C (p.Asn927Thr) c.2129-885A>C (n.2129-885A>C) n.2853A>C n.3061A>C c.2270A>C (p.Asn757Thr) c.1295A>C (p.Asn432Thr) c.2009A>C (p.Asn670Thr) c.2987A>C (p.Asn996Thr) n.2805A>C n.3013A>C | |
1 | g.197434715A>G | CA344042971 | CRB1 | c.2852A>G (p.Asn951Ser) c.1733A>G (p.Asn578Ser) c.995A>G (p.Asn332Ser) c.2516A>G (p.Asn839Ser) c.2780A>G (p.Asn927Ser) c.2129-885A>G (n.2129-885A>G) n.2853A>G n.3061A>G c.2270A>G (p.Asn757Ser) c.1295A>G (p.Asn432Ser) c.2009A>G (p.Asn670Ser) c.2987A>G (p.Asn996Ser) n.2805A>G n.3013A>G | |
1 | g.197434715A>T | CA344042974 | CRB1 | c.2852A>T (p.Asn951Ile) c.1733A>T (p.Asn578Ile) c.995A>T (p.Asn332Ile) c.2516A>T (p.Asn839Ile) c.2780A>T (p.Asn927Ile) c.2129-885A>T (n.2129-885A>T) n.2853A>T n.3061A>T c.2270A>T (p.Asn757Ile) c.1295A>T (p.Asn432Ile) c.2009A>T (p.Asn670Ile) c.2987A>T (p.Asn996Ile) n.2805A>T n.3013A>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197434716T>A | CA344042982 | CRB1 | c.2853T>A (p.Asn951Lys) c.1734T>A (p.Asn578Lys) c.996T>A (p.Asn332Lys) c.2517T>A (p.Asn839Lys) c.2781T>A (p.Asn927Lys) c.2129-884T>A (n.2129-884T>A) n.2854T>A n.3062T>A c.2271T>A (p.Asn757Lys) c.1296T>A (p.Asn432Lys) c.2010T>A (p.Asn670Lys) c.2988T>A (p.Asn996Lys) n.2806T>A n.3014T>A | |
1 | g.197434716T>C | CA422672505 | CRB1 | c.2853T>C (p.Asn951=) c.1734T>C (p.Asn578=) c.996T>C (p.Asn332=) c.2517T>C (p.Asn839=) c.2781T>C (p.Asn927=) c.2129-884T>C (n.2129-884T>C) n.2854T>C n.3062T>C c.2271T>C (p.Asn757=) c.1296T>C (p.Asn432=) c.2010T>C (p.Asn670=) c.2988T>C (p.Asn996=) n.2806T>C n.3014T>C | |
1 | g.197434716T>G | CA344042984 | CRB1 | c.2853T>G (p.Asn951Lys) c.1734T>G (p.Asn578Lys) c.996T>G (p.Asn332Lys) c.2517T>G (p.Asn839Lys) c.2781T>G (p.Asn927Lys) c.2129-884T>G (n.2129-884T>G) n.2854T>G n.3062T>G c.2271T>G (p.Asn757Lys) c.1296T>G (p.Asn432Lys) c.2010T>G (p.Asn670Lys) c.2988T>G (p.Asn996Lys) n.2806T>G n.3014T>G | |
1 | g.197434716T= | CA1143538609 | CRB1 | c.2853T= (p.Asn951=) c.1734T= (p.Asn578=) c.996T= (p.Asn332=) c.2517T= (p.Asn839=) c.2781T= (p.Asn927=) c.2129-884T= (n.2129-884T=) n.2854T= n.3062T= c.2271T= (p.Asn757=) c.1296T= (p.Asn432=) c.2010T= (p.Asn670=) c.2988T= (p.Asn996=) n.2806T= n.3014T= | |
1 | g.197434716dup | CA228025 | CRB1 | c.2853dup (p.Ala952CysfsTer4) c.1734dup (p.Ala579CysfsTer4) c.996dup (p.Ala333CysfsTer4) c.2517dup (p.Ala840CysfsTer4) c.2781dup (p.Ala928CysfsTer4) c.2129-884dup (n.2129-884dup) n.2854dup n.3062dup c.2271dup (p.Ala758CysfsTer4) c.1296dup (p.Ala433CysfsTer4) c.2010dup (p.Ala671CysfsTer4) c.2988dup (p.Ala997CysfsTer4) n.2806dup n.3014dup | ClinVar dbSNP |
1 | g.197434717G>A | CA344042995 | CRB1 | c.2854G>A (p.Ala952Thr) c.1735G>A (p.Ala579Thr) c.997G>A (p.Ala333Thr) c.2518G>A (p.Ala840Thr) c.2782G>A (p.Ala928Thr) c.2129-883G>A (n.2129-883G>A) n.2855G>A n.3063G>A c.2272G>A (p.Ala758Thr) c.1297G>A (p.Ala433Thr) c.2011G>A (p.Ala671Thr) c.2989G>A (p.Ala997Thr) n.2807G>A n.3015G>A | gnomAD v4 |
1 | g.197434717G>C | CA344043001 | CRB1 | c.2854G>C (p.Ala952Pro) c.1735G>C (p.Ala579Pro) c.997G>C (p.Ala333Pro) c.2518G>C (p.Ala840Pro) c.2782G>C (p.Ala928Pro) c.2129-883G>C (n.2129-883G>C) n.2855G>C n.3063G>C c.2272G>C (p.Ala758Pro) c.1297G>C (p.Ala433Pro) c.2011G>C (p.Ala671Pro) c.2989G>C (p.Ala997Pro) n.2807G>C n.3015G>C | |
1 | g.197434717G>T | CA344043004 | CRB1 | c.2854G>T (p.Ala952Ser) c.1735G>T (p.Ala579Ser) c.997G>T (p.Ala333Ser) c.2518G>T (p.Ala840Ser) c.2782G>T (p.Ala928Ser) c.2129-883G>T (n.2129-883G>T) n.2855G>T n.3063G>T c.2272G>T (p.Ala758Ser) c.1297G>T (p.Ala433Ser) c.2011G>T (p.Ala671Ser) c.2989G>T (p.Ala997Ser) n.2807G>T n.3015G>T | COSMIC |
1 | g.197434718C>A | CA344043017 | CRB1 | c.2855C>A (p.Ala952Asp) c.1736C>A (p.Ala579Asp) c.998C>A (p.Ala333Asp) c.2519C>A (p.Ala840Asp) c.2783C>A (p.Ala928Asp) c.2129-882C>A (n.2129-882C>A) n.2856C>A n.3064C>A c.2273C>A (p.Ala758Asp) c.1298C>A (p.Ala433Asp) c.2012C>A (p.Ala671Asp) c.2990C>A (p.Ala997Asp) n.2808C>A n.3016C>A | |
1 | g.197434718C= | CA1149045205 | CRB1 | c.2855C= (p.Ala952=) c.1736C= (p.Ala579=) c.998C= (p.Ala333=) c.2519C= (p.Ala840=) c.2783C= (p.Ala928=) c.2129-882C= (n.2129-882C=) n.2856C= n.3064C= c.2273C= (p.Ala758=) c.1298C= (p.Ala433=) c.2012C= (p.Ala671=) c.2990C= (p.Ala997=) n.2808C= n.3016C= | |
1 | g.197434718C>G | CA344043014 | CRB1 | c.2855C>G (p.Ala952Gly) c.1736C>G (p.Ala579Gly) c.998C>G (p.Ala333Gly) c.2519C>G (p.Ala840Gly) c.2783C>G (p.Ala928Gly) c.2129-882C>G (n.2129-882C>G) n.2856C>G n.3064C>G c.2273C>G (p.Ala758Gly) c.1298C>G (p.Ala433Gly) c.2012C>G (p.Ala671Gly) c.2990C>G (p.Ala997Gly) n.2808C>G n.3016C>G | |
1 | g.197434718C>T | CA1312238 | CRB1 | c.2855C>T (p.Ala952Val) c.1736C>T (p.Ala579Val) c.998C>T (p.Ala333Val) c.2519C>T (p.Ala840Val) c.2783C>T (p.Ala928Val) c.2129-882C>T (n.2129-882C>T) n.2856C>T n.3064C>T c.2273C>T (p.Ala758Val) c.1298C>T (p.Ala433Val) c.2012C>T (p.Ala671Val) c.2990C>T (p.Ala997Val) n.2808C>T n.3016C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197434719T>A | CA422672506 | CRB1 | c.2856T>A (p.Ala952=) c.1737T>A (p.Ala579=) c.999T>A (p.Ala333=) c.2520T>A (p.Ala840=) c.2784T>A (p.Ala928=) c.2129-881T>A (n.2129-881T>A) n.2857T>A n.3065T>A c.2274T>A (p.Ala758=) c.1299T>A (p.Ala433=) c.2013T>A (p.Ala671=) c.2991T>A (p.Ala997=) n.2809T>A n.3017T>A | |
1 | g.197434719T>C | CA422672507 | CRB1 | c.2856T>C (p.Ala952=) c.1737T>C (p.Ala579=) c.999T>C (p.Ala333=) c.2520T>C (p.Ala840=) c.2784T>C (p.Ala928=) c.2129-881T>C (n.2129-881T>C) n.2857T>C n.3065T>C c.2274T>C (p.Ala758=) c.1299T>C (p.Ala433=) c.2013T>C (p.Ala671=) c.2991T>C (p.Ala997=) n.2809T>C n.3017T>C | |
1 | g.197434719T>G | CA422672508 | CRB1 | c.2856T>G (p.Ala952=) c.1737T>G (p.Ala579=) c.999T>G (p.Ala333=) c.2520T>G (p.Ala840=) c.2784T>G (p.Ala928=) c.2129-881T>G (n.2129-881T>G) n.2857T>G n.3065T>G c.2274T>G (p.Ala758=) c.1299T>G (p.Ala433=) c.2013T>G (p.Ala671=) c.2991T>G (p.Ala997=) n.2809T>G n.3017T>G | |
1 | g.197434720G>A | CA1312239 | CRB1 | c.2857G>A (p.Val953Ile) c.1738G>A (p.Val580Ile) c.1000G>A (p.Val334Ile) c.2521G>A (p.Val841Ile) c.2785G>A (p.Val929Ile) c.2129-880G>A (n.2129-880G>A) n.2858G>A n.3066G>A c.2275G>A (p.Val759Ile) c.1300G>A (p.Val434Ile) c.2014G>A (p.Val672Ile) c.2992G>A (p.Val998Ile) n.2810G>A n.3018G>A | dbSNP ExAC gnomAD v2 |
1 | g.197434720G>C | CA344043023 | CRB1 | c.2857G>C (p.Val953Leu) c.1738G>C (p.Val580Leu) c.1000G>C (p.Val334Leu) c.2521G>C (p.Val841Leu) c.2785G>C (p.Val929Leu) c.2129-880G>C (n.2129-880G>C) n.2858G>C n.3066G>C c.2275G>C (p.Val759Leu) c.1300G>C (p.Val434Leu) c.2014G>C (p.Val672Leu) c.2992G>C (p.Val998Leu) n.2810G>C n.3018G>C | |
1 | g.197434720G= | CA1218068643 | CRB1 | c.2857G= (p.Val953=) c.1738G= (p.Val580=) c.1000G= (p.Val334=) c.2521G= (p.Val841=) c.2785G= (p.Val929=) c.2129-880G= (n.2129-880G=) n.2858G= n.3066G= c.2275G= (p.Val759=) c.1300G= (p.Val434=) c.2014G= (p.Val672=) c.2992G= (p.Val998=) n.2810G= n.3018G= | |
1 | g.197434720G>T | CA344043027 | CRB1 | c.2857G>T (p.Val953Phe) c.1738G>T (p.Val580Phe) c.1000G>T (p.Val334Phe) c.2521G>T (p.Val841Phe) c.2785G>T (p.Val929Phe) c.2129-880G>T (n.2129-880G>T) n.2858G>T n.3066G>T c.2275G>T (p.Val759Phe) c.1300G>T (p.Val434Phe) c.2014G>T (p.Val672Phe) c.2992G>T (p.Val998Phe) n.2810G>T n.3018G>T | |
1 | g.197434721T>A | CA344043028 | CRB1 | c.2858T>A (p.Val953Asp) c.1739T>A (p.Val580Asp) c.1001T>A (p.Val334Asp) c.2522T>A (p.Val841Asp) c.2786T>A (p.Val929Asp) c.2129-879T>A (n.2129-879T>A) n.2859T>A n.3067T>A c.2276T>A (p.Val759Asp) c.1301T>A (p.Val434Asp) c.2015T>A (p.Val672Asp) c.2993T>A (p.Val998Asp) n.2811T>A n.3019T>A | |
1 | g.197434721T>C | CA344043029 | CRB1 | c.2858T>C (p.Val953Ala) c.1739T>C (p.Val580Ala) c.1001T>C (p.Val334Ala) c.2522T>C (p.Val841Ala) c.2786T>C (p.Val929Ala) c.2129-879T>C (n.2129-879T>C) n.2859T>C n.3067T>C c.2276T>C (p.Val759Ala) c.1301T>C (p.Val434Ala) c.2015T>C (p.Val672Ala) c.2993T>C (p.Val998Ala) n.2811T>C n.3019T>C | dbSNP gnomAD v4 |
1 | g.197434721T>G | CA344043030 | CRB1 | c.2858T>G (p.Val953Gly) c.1739T>G (p.Val580Gly) c.1001T>G (p.Val334Gly) c.2522T>G (p.Val841Gly) c.2786T>G (p.Val929Gly) c.2129-879T>G (n.2129-879T>G) n.2859T>G n.3067T>G c.2276T>G (p.Val759Gly) c.1301T>G (p.Val434Gly) c.2015T>G (p.Val672Gly) c.2993T>G (p.Val998Gly) n.2811T>G n.3019T>G | |
1 | g.197434721T= | CA1218068644 | CRB1 | c.2858T= (p.Val953=) c.1739T= (p.Val580=) c.1001T= (p.Val334=) c.2522T= (p.Val841=) c.2786T= (p.Val929=) c.2129-879T= (n.2129-879T=) n.2859T= n.3067T= c.2276T= (p.Val759=) c.1301T= (p.Val434=) c.2015T= (p.Val672=) c.2993T= (p.Val998=) n.2811T= n.3019T= | |
1 | g.197434722T>A | CA422672509 | CRB1 | c.2859T>A (p.Val953=) c.1740T>A (p.Val580=) c.1002T>A (p.Val334=) c.2523T>A (p.Val841=) c.2787T>A (p.Val929=) c.2129-878T>A (n.2129-878T>A) n.2860T>A n.3068T>A c.2277T>A (p.Val759=) c.1302T>A (p.Val434=) c.2016T>A (p.Val672=) c.2994T>A (p.Val998=) n.2812T>A n.3020T>A | |
1 | g.197434722T>C | CA422672511 | CRB1 | c.2859T>C (p.Val953=) c.1740T>C (p.Val580=) c.1002T>C (p.Val334=) c.2523T>C (p.Val841=) c.2787T>C (p.Val929=) c.2129-878T>C (n.2129-878T>C) n.2860T>C n.3068T>C c.2277T>C (p.Val759=) c.1302T>C (p.Val434=) c.2016T>C (p.Val672=) c.2994T>C (p.Val998=) n.2812T>C n.3020T>C | |
1 | g.197434722T>G | CA422672510 | CRB1 | c.2859T>G (p.Val953=) c.1740T>G (p.Val580=) c.1002T>G (p.Val334=) c.2523T>G (p.Val841=) c.2787T>G (p.Val929=) c.2129-878T>G (n.2129-878T>G) n.2860T>G n.3068T>G c.2277T>G (p.Val759=) c.1302T>G (p.Val434=) c.2016T>G (p.Val672=) c.2994T>G (p.Val998=) n.2812T>G n.3020T>G | |
1 | g.197434723T>A | CA344043033 | CRB1 | c.2860T>A (p.Phe954Ile) c.1741T>A (p.Phe581Ile) c.1003T>A (p.Phe335Ile) c.2524T>A (p.Phe842Ile) c.2788T>A (p.Phe930Ile) c.2129-877T>A (n.2129-877T>A) n.2861T>A n.3069T>A c.2278T>A (p.Phe760Ile) c.1303T>A (p.Phe435Ile) c.2017T>A (p.Phe673Ile) c.2995T>A (p.Phe999Ile) n.2813T>A n.3021T>A | |
1 | g.197434723T>C | CA344043034 | CRB1 | c.2860T>C (p.Phe954Leu) c.1741T>C (p.Phe581Leu) c.1003T>C (p.Phe335Leu) c.2524T>C (p.Phe842Leu) c.2788T>C (p.Phe930Leu) c.2129-877T>C (n.2129-877T>C) n.2861T>C n.3069T>C c.2278T>C (p.Phe760Leu) c.1303T>C (p.Phe435Leu) c.2017T>C (p.Phe673Leu) c.2995T>C (p.Phe999Leu) n.2813T>C n.3021T>C | |
1 | g.197434723T>G | CA344043036 | CRB1 | c.2860T>G (p.Phe954Val) c.1741T>G (p.Phe581Val) c.1003T>G (p.Phe335Val) c.2524T>G (p.Phe842Val) c.2788T>G (p.Phe930Val) c.2129-877T>G (n.2129-877T>G) n.2861T>G n.3069T>G c.2278T>G (p.Phe760Val) c.1303T>G (p.Phe435Val) c.2017T>G (p.Phe673Val) c.2995T>G (p.Phe999Val) n.2813T>G n.3021T>G | |
1 | g.197434724T>A | CA344043039 | CRB1 | c.2861T>A (p.Phe954Tyr) c.1742T>A (p.Phe581Tyr) c.1004T>A (p.Phe335Tyr) c.2525T>A (p.Phe842Tyr) c.2789T>A (p.Phe930Tyr) c.2129-876T>A (n.2129-876T>A) n.2862T>A n.3070T>A c.2279T>A (p.Phe760Tyr) c.1304T>A (p.Phe435Tyr) c.2018T>A (p.Phe673Tyr) c.2996T>A (p.Phe999Tyr) n.2814T>A n.3022T>A | |
1 | g.197434724T>C | CA344043040 | CRB1 | c.2861T>C (p.Phe954Ser) c.1742T>C (p.Phe581Ser) c.1004T>C (p.Phe335Ser) c.2525T>C (p.Phe842Ser) c.2789T>C (p.Phe930Ser) c.2129-876T>C (n.2129-876T>C) n.2862T>C n.3070T>C c.2279T>C (p.Phe760Ser) c.1304T>C (p.Phe435Ser) c.2018T>C (p.Phe673Ser) c.2996T>C (p.Phe999Ser) n.2814T>C n.3022T>C | |
1 | g.197434724T>G | CA344043044 | CRB1 | c.2861T>G (p.Phe954Cys) c.1742T>G (p.Phe581Cys) c.1004T>G (p.Phe335Cys) c.2525T>G (p.Phe842Cys) c.2789T>G (p.Phe930Cys) c.2129-876T>G (n.2129-876T>G) n.2862T>G n.3070T>G c.2279T>G (p.Phe760Cys) c.1304T>G (p.Phe435Cys) c.2018T>G (p.Phe673Cys) c.2996T>G (p.Phe999Cys) n.2814T>G n.3022T>G | |
1 | g.197434725T>A | CA344043045 | CRB1 | c.2862T>A (p.Phe954Leu) c.1743T>A (p.Phe581Leu) c.1005T>A (p.Phe335Leu) c.2526T>A (p.Phe842Leu) c.2790T>A (p.Phe930Leu) c.2129-875T>A (n.2129-875T>A) n.2863T>A n.3071T>A c.2280T>A (p.Phe760Leu) c.1305T>A (p.Phe435Leu) c.2019T>A (p.Phe673Leu) c.2997T>A (p.Phe999Leu) n.2815T>A n.3023T>A | |
1 | g.197434725T>C | CA422672512 | CRB1 | c.2862T>C (p.Phe954=) c.1743T>C (p.Phe581=) c.1005T>C (p.Phe335=) c.2526T>C (p.Phe842=) c.2790T>C (p.Phe930=) c.2129-875T>C (n.2129-875T>C) n.2863T>C n.3071T>C c.2280T>C (p.Phe760=) c.1305T>C (p.Phe435=) c.2019T>C (p.Phe673=) c.2997T>C (p.Phe999=) n.2815T>C n.3023T>C | ClinVar gnomAD v4 |
1 | g.197434725T>G | CA344043048 | CRB1 | c.2862T>G (p.Phe954Leu) c.1743T>G (p.Phe581Leu) c.1005T>G (p.Phe335Leu) c.2526T>G (p.Phe842Leu) c.2790T>G (p.Phe930Leu) c.2129-875T>G (n.2129-875T>G) n.2863T>G n.3071T>G c.2280T>G (p.Phe760Leu) c.1305T>G (p.Phe435Leu) c.2019T>G (p.Phe673Leu) c.2997T>G (p.Phe999Leu) n.2815T>G n.3023T>G | COSMIC COSMIC |
1 | g.197434726A= | CA1218068645 | CRB1 | c.2863A= (p.Asn955=) c.1744A= (p.Asn582=) c.1006A= (p.Asn336=) c.2527A= (p.Asn843=) c.2791A= (p.Asn931=) c.2129-874A= (n.2129-874A=) n.2864A= n.3072A= c.2281A= (p.Asn761=) c.1306A= (p.Asn436=) c.2020A= (p.Asn674=) c.2998A= (p.Asn1000=) n.2816A= n.3024A= | |
1 | g.197434726A>C | CA10609286 | CRB1 | c.2863A>C (p.Asn955His) c.1744A>C (p.Asn582His) c.1006A>C (p.Asn336His) c.2527A>C (p.Asn843His) c.2791A>C (p.Asn931His) c.2129-874A>C (n.2129-874A>C) n.2864A>C n.3072A>C c.2281A>C (p.Asn761His) c.1306A>C (p.Asn436His) c.2020A>C (p.Asn674His) c.2998A>C (p.Asn1000His) n.2816A>C n.3024A>C | ClinVar dbSNP |
1 | g.197434726A>G | CA344043052 | CRB1 | c.2863A>G (p.Asn955Asp) c.1744A>G (p.Asn582Asp) c.1006A>G (p.Asn336Asp) c.2527A>G (p.Asn843Asp) c.2791A>G (p.Asn931Asp) c.2129-874A>G (n.2129-874A>G) n.2864A>G n.3072A>G c.2281A>G (p.Asn761Asp) c.1306A>G (p.Asn436Asp) c.2020A>G (p.Asn674Asp) c.2998A>G (p.Asn1000Asp) n.2816A>G n.3024A>G | |
1 | g.197434726A>T | CA344043051 | CRB1 | c.2863A>T (p.Asn955Tyr) c.1744A>T (p.Asn582Tyr) c.1006A>T (p.Asn336Tyr) c.2527A>T (p.Asn843Tyr) c.2791A>T (p.Asn931Tyr) c.2129-874A>T (n.2129-874A>T) n.2864A>T n.3072A>T c.2281A>T (p.Asn761Tyr) c.1306A>T (p.Asn436Tyr) c.2020A>T (p.Asn674Tyr) c.2998A>T (p.Asn1000Tyr) n.2816A>T n.3024A>T | |
1 | g.197434727A>C | CA344043053 | CRB1 | c.2864A>C (p.Asn955Thr) c.1745A>C (p.Asn582Thr) c.1007A>C (p.Asn336Thr) c.2528A>C (p.Asn843Thr) c.2792A>C (p.Asn931Thr) c.2129-873A>C (n.2129-873A>C) n.2865A>C n.3073A>C c.2282A>C (p.Asn761Thr) c.1307A>C (p.Asn436Thr) c.2021A>C (p.Asn674Thr) c.2999A>C (p.Asn1000Thr) n.2817A>C n.3025A>C | gnomAD v4 |
1 | g.197434727A>G | CA344043059 | CRB1 | c.2864A>G (p.Asn955Ser) c.1745A>G (p.Asn582Ser) c.1007A>G (p.Asn336Ser) c.2528A>G (p.Asn843Ser) c.2792A>G (p.Asn931Ser) c.2129-873A>G (n.2129-873A>G) n.2865A>G n.3073A>G c.2282A>G (p.Asn761Ser) c.1307A>G (p.Asn436Ser) c.2021A>G (p.Asn674Ser) c.2999A>G (p.Asn1000Ser) n.2817A>G n.3025A>G | |
1 | g.197434727A>T | CA344043062 | CRB1 | c.2864A>T (p.Asn955Ile) c.1745A>T (p.Asn582Ile) c.1007A>T (p.Asn336Ile) c.2528A>T (p.Asn843Ile) c.2792A>T (p.Asn931Ile) c.2129-873A>T (n.2129-873A>T) n.2865A>T n.3073A>T c.2282A>T (p.Asn761Ile) c.1307A>T (p.Asn436Ile) c.2021A>T (p.Asn674Ile) c.2999A>T (p.Asn1000Ile) n.2817A>T n.3025A>T | |
1 | g.197434728T>A | CA344043067 | CRB1 | c.2865T>A (p.Asn955Lys) c.1746T>A (p.Asn582Lys) c.1008T>A (p.Asn336Lys) c.2529T>A (p.Asn843Lys) c.2793T>A (p.Asn931Lys) c.2129-872T>A (n.2129-872T>A) n.2866T>A n.3074T>A c.2283T>A (p.Asn761Lys) c.1308T>A (p.Asn436Lys) c.2022T>A (p.Asn674Lys) c.3000T>A (p.Asn1000Lys) n.2818T>A n.3026T>A | COSMIC COSMIC |
1 | g.197434728T>C | CA422672513 | CRB1 | c.2865T>C (p.Asn955=) c.1746T>C (p.Asn582=) c.1008T>C (p.Asn336=) c.2529T>C (p.Asn843=) c.2793T>C (p.Asn931=) c.2129-872T>C (n.2129-872T>C) n.2866T>C n.3074T>C c.2283T>C (p.Asn761=) c.1308T>C (p.Asn436=) c.2022T>C (p.Asn674=) c.3000T>C (p.Asn1000=) n.2818T>C n.3026T>C | ClinVar dbSNP |
1 | g.197434728T>G | CA344043074 | CRB1 | c.2865T>G (p.Asn955Lys) c.1746T>G (p.Asn582Lys) c.1008T>G (p.Asn336Lys) c.2529T>G (p.Asn843Lys) c.2793T>G (p.Asn931Lys) c.2129-872T>G (n.2129-872T>G) n.2866T>G n.3074T>G c.2283T>G (p.Asn761Lys) c.1308T>G (p.Asn436Lys) c.2022T>G (p.Asn674Lys) c.3000T>G (p.Asn1000Lys) n.2818T>G n.3026T>G | |
1 | g.197434729G>A | CA35906497 | CRB1 | c.2866G>A (p.Gly956Arg) c.1747G>A (p.Gly583Arg) c.1009G>A (p.Gly337Arg) c.2530G>A (p.Gly844Arg) c.2794G>A (p.Gly932Arg) c.2129-871G>A (n.2129-871G>A) n.2867G>A n.3075G>A c.2284G>A (p.Gly762Arg) c.1309G>A (p.Gly437Arg) c.2023G>A (p.Gly675Arg) c.3001G>A (p.Gly1001Arg) n.2819G>A n.3027G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434729G>C | CA344043081 | CRB1 | c.2866G>C (p.Gly956Arg) c.1747G>C (p.Gly583Arg) c.1009G>C (p.Gly337Arg) c.2530G>C (p.Gly844Arg) c.2794G>C (p.Gly932Arg) c.2129-871G>C (n.2129-871G>C) n.2867G>C n.3075G>C c.2284G>C (p.Gly762Arg) c.1309G>C (p.Gly437Arg) c.2023G>C (p.Gly675Arg) c.3001G>C (p.Gly1001Arg) n.2819G>C n.3027G>C | |
1 | g.197434729G= | CA1218068646 | CRB1 | c.2866G= (p.Gly956=) c.1747G= (p.Gly583=) c.1009G= (p.Gly337=) c.2530G= (p.Gly844=) c.2794G= (p.Gly932=) c.2129-871G= (n.2129-871G=) n.2867G= n.3075G= c.2284G= (p.Gly762=) c.1309G= (p.Gly437=) c.2023G= (p.Gly675=) c.3001G= (p.Gly1001=) n.2819G= n.3027G= | |
1 | g.197434729G>T | CA344043078 | CRB1 | c.2866G>T (p.Gly956Ter) c.1747G>T (p.Gly583Ter) c.1009G>T (p.Gly337Ter) c.2530G>T (p.Gly844Ter) c.2794G>T (p.Gly932Ter) c.2129-871G>T (n.2129-871G>T) n.2867G>T n.3075G>T c.2284G>T (p.Gly762Ter) c.1309G>T (p.Gly437Ter) c.2023G>T (p.Gly675Ter) c.3001G>T (p.Gly1001Ter) n.2819G>T n.3027G>T | |
1 | g.197434730G>A | CA35906528 | CRB1 | c.2867G>A (p.Gly956Glu) c.1748G>A (p.Gly583Glu) c.1010G>A (p.Gly337Glu) c.2531G>A (p.Gly844Glu) c.2795G>A (p.Gly932Glu) c.2129-870G>A (n.2129-870G>A) n.2868G>A n.3076G>A c.2285G>A (p.Gly762Glu) c.1310G>A (p.Gly437Glu) c.2024G>A (p.Gly675Glu) c.3002G>A (p.Gly1001Glu) n.2820G>A n.3028G>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197434730G>C | CA344043091 | CRB1 | c.2867G>C (p.Gly956Ala) c.1748G>C (p.Gly583Ala) c.1010G>C (p.Gly337Ala) c.2531G>C (p.Gly844Ala) c.2795G>C (p.Gly932Ala) c.2129-870G>C (n.2129-870G>C) n.2868G>C n.3076G>C c.2285G>C (p.Gly762Ala) c.1310G>C (p.Gly437Ala) c.2024G>C (p.Gly675Ala) c.3002G>C (p.Gly1001Ala) n.2820G>C n.3028G>C | |
1 | g.197434730G= | CA1143537108 | CRB1 | c.2867G= (p.Gly956=) c.1748G= (p.Gly583=) c.1010G= (p.Gly337=) c.2531G= (p.Gly844=) c.2795G= (p.Gly932=) c.2129-870G= (n.2129-870G=) n.2868G= n.3076G= c.2285G= (p.Gly762=) c.1310G= (p.Gly437=) c.2024G= (p.Gly675=) c.3002G= (p.Gly1001=) n.2820G= n.3028G= | |
1 | g.197434730G>T | CA344043094 | CRB1 | c.2867G>T (p.Gly956Val) c.1748G>T (p.Gly583Val) c.1010G>T (p.Gly337Val) c.2531G>T (p.Gly844Val) c.2795G>T (p.Gly932Val) c.2129-870G>T (n.2129-870G>T) n.2868G>T n.3076G>T c.2285G>T (p.Gly762Val) c.1310G>T (p.Gly437Val) c.2024G>T (p.Gly675Val) c.3002G>T (p.Gly1001Val) n.2820G>T n.3028G>T | ClinVar dbSNP gnomAD v4 |
1 | g.197434731A= | CA1218068647 | CRB1 | c.2868A= (p.Gly956=) c.1749A= (p.Gly583=) c.1011A= (p.Gly337=) c.2532A= (p.Gly844=) c.2796A= (p.Gly932=) c.2129-869A= (n.2129-869A=) n.2869A= n.3077A= c.2286A= (p.Gly762=) c.1311A= (p.Gly437=) c.2025A= (p.Gly675=) c.3003A= (p.Gly1001=) n.2821A= n.3029A= | |
1 | g.197434731A>C | CA422672514 | CRB1 | c.2868A>C (p.Gly956=) c.1749A>C (p.Gly583=) c.1011A>C (p.Gly337=) c.2532A>C (p.Gly844=) c.2796A>C (p.Gly932=) c.2129-869A>C (n.2129-869A>C) n.2869A>C n.3077A>C c.2286A>C (p.Gly762=) c.1311A>C (p.Gly437=) c.2025A>C (p.Gly675=) c.3003A>C (p.Gly1001=) n.2821A>C n.3029A>C | |
1 | g.197434731A>G | CA422672515 | CRB1 | c.2868A>G (p.Gly956=) c.1749A>G (p.Gly583=) c.1011A>G (p.Gly337=) c.2532A>G (p.Gly844=) c.2796A>G (p.Gly932=) c.2129-869A>G (n.2129-869A>G) n.2869A>G n.3077A>G c.2286A>G (p.Gly762=) c.1311A>G (p.Gly437=) c.2025A>G (p.Gly675=) c.3003A>G (p.Gly1001=) n.2821A>G n.3029A>G | ClinVar dbSNP gnomAD v4 |
1 | g.197434731A>T | CA422672516 | CRB1 | c.2868A>T (p.Gly956=) c.1749A>T (p.Gly583=) c.1011A>T (p.Gly337=) c.2532A>T (p.Gly844=) c.2796A>T (p.Gly932=) c.2129-869A>T (n.2129-869A>T) n.2869A>T n.3077A>T c.2286A>T (p.Gly762=) c.1311A>T (p.Gly437=) c.2025A>T (p.Gly675=) c.3003A>T (p.Gly1001=) n.2821A>T n.3029A>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197434732C>A | CA344043098 | CRB1 | c.2869C>A (p.Gln957Lys) c.1750C>A (p.Gln584Lys) c.1012C>A (p.Gln338Lys) c.2533C>A (p.Gln845Lys) c.2797C>A (p.Gln933Lys) c.2129-868C>A (n.2129-868C>A) n.2870C>A n.3078C>A c.2287C>A (p.Gln763Lys) c.1312C>A (p.Gln438Lys) c.2026C>A (p.Gln676Lys) c.3004C>A (p.Gln1002Lys) n.2822C>A n.3030C>A | COSMIC COSMIC |
1 | g.197434732C= | CA1218068648 | CRB1 | c.2869C= (p.Gln957=) c.1750C= (p.Gln584=) c.1012C= (p.Gln338=) c.2533C= (p.Gln845=) c.2797C= (p.Gln933=) c.2129-868C= (n.2129-868C=) n.2870C= n.3078C= c.2287C= (p.Gln763=) c.1312C= (p.Gln438=) c.2026C= (p.Gln676=) c.3004C= (p.Gln1002=) n.2822C= n.3030C= | |
1 | g.197434732C>G | CA344043102 | CRB1 | c.2869C>G (p.Gln957Glu) c.1750C>G (p.Gln584Glu) c.1012C>G (p.Gln338Glu) c.2533C>G (p.Gln845Glu) c.2797C>G (p.Gln933Glu) c.2129-868C>G (n.2129-868C>G) n.2870C>G n.3078C>G c.2287C>G (p.Gln763Glu) c.1312C>G (p.Gln438Glu) c.2026C>G (p.Gln676Glu) c.3004C>G (p.Gln1002Glu) n.2822C>G n.3030C>G | |
1 | g.197434732C>T | CA10581631 | CRB1 | c.2869C>T (p.Gln957Ter) c.1750C>T (p.Gln584Ter) c.1012C>T (p.Gln338Ter) c.2533C>T (p.Gln845Ter) c.2797C>T (p.Gln933Ter) c.2129-868C>T (n.2129-868C>T) n.2870C>T n.3078C>T c.2287C>T (p.Gln763Ter) c.1312C>T (p.Gln438Ter) c.2026C>T (p.Gln676Ter) c.3004C>T (p.Gln1002Ter) n.2822C>T n.3030C>T | ClinVar dbSNP gnomAD v4 |
1 | g.197434733A>C | CA344043117 | CRB1 | c.2870A>C (p.Gln957Pro) c.1751A>C (p.Gln584Pro) c.1013A>C (p.Gln338Pro) c.2534A>C (p.Gln845Pro) c.2798A>C (p.Gln933Pro) c.2129-867A>C (n.2129-867A>C) n.2871A>C n.3079A>C c.2288A>C (p.Gln763Pro) c.1313A>C (p.Gln438Pro) c.2027A>C (p.Gln676Pro) c.3005A>C (p.Gln1002Pro) n.2823A>C n.3031A>C | |
1 | g.197434733A>G | CA344043126 | CRB1 | c.2870A>G (p.Gln957Arg) c.1751A>G (p.Gln584Arg) c.1013A>G (p.Gln338Arg) c.2534A>G (p.Gln845Arg) c.2798A>G (p.Gln933Arg) c.2129-867A>G (n.2129-867A>G) n.2871A>G n.3079A>G c.2288A>G (p.Gln763Arg) c.1313A>G (p.Gln438Arg) c.2027A>G (p.Gln676Arg) c.3005A>G (p.Gln1002Arg) n.2823A>G n.3031A>G | |
1 | g.197434733A>T | CA344043121 | CRB1 | c.2870A>T (p.Gln957Leu) c.1751A>T (p.Gln584Leu) c.1013A>T (p.Gln338Leu) c.2534A>T (p.Gln845Leu) c.2798A>T (p.Gln933Leu) c.2129-867A>T (n.2129-867A>T) n.2871A>T n.3079A>T c.2288A>T (p.Gln763Leu) c.1313A>T (p.Gln438Leu) c.2027A>T (p.Gln676Leu) c.3005A>T (p.Gln1002Leu) n.2823A>T n.3031A>T | |
1 | g.197434734A>C | CA344043130 | CRB1 | c.2871A>C (p.Gln957His) c.1752A>C (p.Gln584His) c.1014A>C (p.Gln338His) c.2535A>C (p.Gln845His) c.2799A>C (p.Gln933His) c.2129-866A>C (n.2129-866A>C) n.2872A>C n.3080A>C c.2289A>C (p.Gln763His) c.1314A>C (p.Gln438His) c.2028A>C (p.Gln676His) c.3006A>C (p.Gln1002His) n.2824A>C n.3032A>C | |
1 | g.197434734A>G | CA422672517 | CRB1 | c.2871A>G (p.Gln957=) c.1752A>G (p.Gln584=) c.1014A>G (p.Gln338=) c.2535A>G (p.Gln845=) c.2799A>G (p.Gln933=) c.2129-866A>G (n.2129-866A>G) n.2872A>G n.3080A>G c.2289A>G (p.Gln763=) c.1314A>G (p.Gln438=) c.2028A>G (p.Gln676=) c.3006A>G (p.Gln1002=) n.2824A>G n.3032A>G | |
1 | g.197434734A>T | CA344043132 | CRB1 | c.2871A>T (p.Gln957His) c.1752A>T (p.Gln584His) c.1014A>T (p.Gln338His) c.2535A>T (p.Gln845His) c.2799A>T (p.Gln933His) c.2129-866A>T (n.2129-866A>T) n.2872A>T n.3080A>T c.2289A>T (p.Gln763His) c.1314A>T (p.Gln438His) c.2028A>T (p.Gln676His) c.3006A>T (p.Gln1002His) n.2824A>T n.3032A>T | |
1 | g.197434735A>C | CA344043135 | CRB1 | c.2872A>C (p.Ser958Arg) c.1753A>C (p.Ser585Arg) c.1015A>C (p.Ser339Arg) c.2536A>C (p.Ser846Arg) c.2800A>C (p.Ser934Arg) c.2129-865A>C (n.2129-865A>C) n.2873A>C n.3081A>C c.2290A>C (p.Ser764Arg) c.1315A>C (p.Ser439Arg) c.2029A>C (p.Ser677Arg) c.3007A>C (p.Ser1003Arg) n.2825A>C n.3033A>C | |
1 | g.197434735A>G | CA344043137 | CRB1 | c.2872A>G (p.Ser958Gly) c.1753A>G (p.Ser585Gly) c.1015A>G (p.Ser339Gly) c.2536A>G (p.Ser846Gly) c.2800A>G (p.Ser934Gly) c.2129-865A>G (n.2129-865A>G) n.2873A>G n.3081A>G c.2290A>G (p.Ser764Gly) c.1315A>G (p.Ser439Gly) c.2029A>G (p.Ser677Gly) c.3007A>G (p.Ser1003Gly) n.2825A>G n.3033A>G | gnomAD v4 |
1 | g.197434735A>T | CA344043139 | CRB1 | c.2872A>T (p.Ser958Cys) c.1753A>T (p.Ser585Cys) c.1015A>T (p.Ser339Cys) c.2536A>T (p.Ser846Cys) c.2800A>T (p.Ser934Cys) c.2129-865A>T (n.2129-865A>T) n.2873A>T n.3081A>T c.2290A>T (p.Ser764Cys) c.1315A>T (p.Ser439Cys) c.2029A>T (p.Ser677Cys) c.3007A>T (p.Ser1003Cys) n.2825A>T n.3033A>T | |
1 | g.197434735_197434736del | CA2649670635 | CRB1 | c.2872_2873del (p.Ser958ArgfsTer?) c.1753_1754del (p.Ser585ArgfsTer?) c.1015_1016del (p.Ser339ArgfsTer?) c.2536_2537del (p.Ser846ArgfsTer?) c.2800_2801del (p.Ser934ArgfsTer?) c.2129-865_2129-864del (n.2129-865_2129-864del) n.2873_2874del n.3081_3082del c.2290_2291del (p.Ser764ArgfsTer?) c.1315_1316del (p.Ser439ArgfsTer?) c.2029_2030del (p.Ser677ArgfsTer?) c.3007_3008del (p.Ser1003ArgfsTer?) n.2825_2826del n.3033_3034del | gnomAD v4 |
1 | g.197434736G>A | CA344043141 | CRB1 | c.2873G>A (p.Ser958Asn) c.1754G>A (p.Ser585Asn) c.1016G>A (p.Ser339Asn) c.2537G>A (p.Ser846Asn) c.2801G>A (p.Ser934Asn) c.2129-864G>A (n.2129-864G>A) n.2874G>A n.3082G>A c.2291G>A (p.Ser764Asn) c.1316G>A (p.Ser439Asn) c.2030G>A (p.Ser677Asn) c.3008G>A (p.Ser1003Asn) n.2826G>A n.3034G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434736G>C | CA344043144 | CRB1 | c.2873G>C (p.Ser958Thr) c.1754G>C (p.Ser585Thr) c.1016G>C (p.Ser339Thr) c.2537G>C (p.Ser846Thr) c.2801G>C (p.Ser934Thr) c.2129-864G>C (n.2129-864G>C) n.2874G>C n.3082G>C c.2291G>C (p.Ser764Thr) c.1316G>C (p.Ser439Thr) c.2030G>C (p.Ser677Thr) c.3008G>C (p.Ser1003Thr) n.2826G>C n.3034G>C | |
1 | g.197434736G= | CA1218068649 | CRB1 | c.2873G= (p.Ser958=) c.1754G= (p.Ser585=) c.1016G= (p.Ser339=) c.2537G= (p.Ser846=) c.2801G= (p.Ser934=) c.2129-864G= (n.2129-864G=) n.2874G= n.3082G= c.2291G= (p.Ser764=) c.1316G= (p.Ser439=) c.2030G= (p.Ser677=) c.3008G= (p.Ser1003=) n.2826G= n.3034G= | |
1 | g.197434736G>T | CA344043147 | CRB1 | c.2873G>T (p.Ser958Ile) c.1754G>T (p.Ser585Ile) c.1016G>T (p.Ser339Ile) c.2537G>T (p.Ser846Ile) c.2801G>T (p.Ser934Ile) c.2129-864G>T (n.2129-864G>T) n.2874G>T n.3082G>T c.2291G>T (p.Ser764Ile) c.1316G>T (p.Ser439Ile) c.2030G>T (p.Ser677Ile) c.3008G>T (p.Ser1003Ile) n.2826G>T n.3034G>T | COSMIC |
1 | g.197434737C>A | CA344043150 | CRB1 | c.2874C>A (p.Ser958Arg) c.1755C>A (p.Ser585Arg) c.1017C>A (p.Ser339Arg) c.2538C>A (p.Ser846Arg) c.2802C>A (p.Ser934Arg) c.2129-863C>A (n.2129-863C>A) n.2875C>A n.3083C>A c.2292C>A (p.Ser764Arg) c.1317C>A (p.Ser439Arg) c.2031C>A (p.Ser677Arg) c.3009C>A (p.Ser1003Arg) n.2827C>A n.3035C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.197434737C= | CA1143885337 | CRB1 | c.2874C= (p.Ser958=) c.1755C= (p.Ser585=) c.1017C= (p.Ser339=) c.2538C= (p.Ser846=) c.2802C= (p.Ser934=) c.2129-863C= (n.2129-863C=) n.2875C= n.3083C= c.2292C= (p.Ser764=) c.1317C= (p.Ser439=) c.2031C= (p.Ser677=) c.3009C= (p.Ser1003=) n.2827C= n.3035C= | |
1 | g.197434737C>G | CA344043153 | CRB1 | c.2874C>G (p.Ser958Arg) c.1755C>G (p.Ser585Arg) c.1017C>G (p.Ser339Arg) c.2538C>G (p.Ser846Arg) c.2802C>G (p.Ser934Arg) c.2129-863C>G (n.2129-863C>G) n.2875C>G n.3083C>G c.2292C>G (p.Ser764Arg) c.1317C>G (p.Ser439Arg) c.2031C>G (p.Ser677Arg) c.3009C>G (p.Ser1003Arg) n.2827C>G n.3035C>G | |
1 | g.197434737C>T | CA1312240 | CRB1 | c.2874C>T (p.Ser958=) c.1755C>T (p.Ser585=) c.1017C>T (p.Ser339=) c.2538C>T (p.Ser846=) c.2802C>T (p.Ser934=) c.2129-863C>T (n.2129-863C>T) n.2875C>T n.3083C>T c.2292C>T (p.Ser764=) c.1317C>T (p.Ser439=) c.2031C>T (p.Ser677=) c.3009C>T (p.Ser1003=) n.2827C>T n.3035C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434738G>A | CA1312241 | CRB1 | c.2875G>A (p.Gly959Ser) c.1756G>A (p.Gly586Ser) c.1018G>A (p.Gly340Ser) c.2539G>A (p.Gly847Ser) c.2803G>A (p.Gly935Ser) c.2129-862G>A (n.2129-862G>A) n.2876G>A n.3084G>A c.2293G>A (p.Gly765Ser) c.1318G>A (p.Gly440Ser) c.2032G>A (p.Gly678Ser) c.3010G>A (p.Gly1004Ser) n.2828G>A n.3036G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434738G>C | CA344043160 | CRB1 | c.2875G>C (p.Gly959Arg) c.1756G>C (p.Gly586Arg) c.1018G>C (p.Gly340Arg) c.2539G>C (p.Gly847Arg) c.2803G>C (p.Gly935Arg) c.2129-862G>C (n.2129-862G>C) n.2876G>C n.3084G>C c.2293G>C (p.Gly765Arg) c.1318G>C (p.Gly440Arg) c.2032G>C (p.Gly678Arg) c.3010G>C (p.Gly1004Arg) n.2828G>C n.3036G>C | |
1 | g.197434738G= | CA1146510713 | CRB1 | c.2875G= (p.Gly959=) c.1756G= (p.Gly586=) c.1018G= (p.Gly340=) c.2539G= (p.Gly847=) c.2803G= (p.Gly935=) c.2129-862G= (n.2129-862G=) n.2876G= n.3084G= c.2293G= (p.Gly765=) c.1318G= (p.Gly440=) c.2032G= (p.Gly678=) c.3010G= (p.Gly1004=) n.2828G= n.3036G= | |
1 | g.197434738G>T | CA344043157 | CRB1 | c.2875G>T (p.Gly959Cys) c.1756G>T (p.Gly586Cys) c.1018G>T (p.Gly340Cys) c.2539G>T (p.Gly847Cys) c.2803G>T (p.Gly935Cys) c.2129-862G>T (n.2129-862G>T) n.2876G>T n.3084G>T c.2293G>T (p.Gly765Cys) c.1318G>T (p.Gly440Cys) c.2032G>T (p.Gly678Cys) c.3010G>T (p.Gly1004Cys) n.2828G>T n.3036G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197434739G>A | CA344043163 | CRB1 | c.2876G>A (p.Gly959Asp) c.1757G>A (p.Gly586Asp) c.1019G>A (p.Gly340Asp) c.2540G>A (p.Gly847Asp) c.2804G>A (p.Gly935Asp) c.2129-861G>A (n.2129-861G>A) n.2877G>A n.3085G>A c.2294G>A (p.Gly765Asp) c.1319G>A (p.Gly440Asp) c.2033G>A (p.Gly678Asp) c.3011G>A (p.Gly1004Asp) n.2829G>A n.3037G>A | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197434739G>C | CA344043165 | CRB1 | c.2876G>C (p.Gly959Ala) c.1757G>C (p.Gly586Ala) c.1019G>C (p.Gly340Ala) c.2540G>C (p.Gly847Ala) c.2804G>C (p.Gly935Ala) c.2129-861G>C (n.2129-861G>C) n.2877G>C n.3085G>C c.2294G>C (p.Gly765Ala) c.1319G>C (p.Gly440Ala) c.2033G>C (p.Gly678Ala) c.3011G>C (p.Gly1004Ala) n.2829G>C n.3037G>C | |
1 | g.197434739G= | CA1218068650 | CRB1 | c.2876G= (p.Gly959=) c.1757G= (p.Gly586=) c.1019G= (p.Gly340=) c.2540G= (p.Gly847=) c.2804G= (p.Gly935=) c.2129-861G= (n.2129-861G=) n.2877G= n.3085G= c.2294G= (p.Gly765=) c.1319G= (p.Gly440=) c.2033G= (p.Gly678=) c.3011G= (p.Gly1004=) n.2829G= n.3037G= | |
1 | g.197434739G>T | CA344043167 | CRB1 | c.2876G>T (p.Gly959Val) c.1757G>T (p.Gly586Val) c.1019G>T (p.Gly340Val) c.2540G>T (p.Gly847Val) c.2804G>T (p.Gly935Val) c.2129-861G>T (n.2129-861G>T) n.2877G>T n.3085G>T c.2294G>T (p.Gly765Val) c.1319G>T (p.Gly440Val) c.2033G>T (p.Gly678Val) c.3011G>T (p.Gly1004Val) n.2829G>T n.3037G>T | |
1 | g.197434740T>A | CA422672518 | CRB1 | c.2877T>A (p.Gly959=) c.1758T>A (p.Gly586=) c.1020T>A (p.Gly340=) c.2541T>A (p.Gly847=) c.2805T>A (p.Gly935=) c.2129-860T>A (n.2129-860T>A) n.2878T>A n.3086T>A c.2295T>A (p.Gly765=) c.1320T>A (p.Gly440=) c.2034T>A (p.Gly678=) c.3012T>A (p.Gly1004=) n.2830T>A n.3038T>A | ClinVar dbSNP gnomAD v4 |
1 | g.197434740T>C | CA422672519 | CRB1 | c.2877T>C (p.Gly959=) c.1758T>C (p.Gly586=) c.1020T>C (p.Gly340=) c.2541T>C (p.Gly847=) c.2805T>C (p.Gly935=) c.2129-860T>C (n.2129-860T>C) n.2878T>C n.3086T>C c.2295T>C (p.Gly765=) c.1320T>C (p.Gly440=) c.2034T>C (p.Gly678=) c.3012T>C (p.Gly1004=) n.2830T>C n.3038T>C | |
1 | g.197434740T>G | CA422672520 | CRB1 | c.2877T>G (p.Gly959=) c.1758T>G (p.Gly586=) c.1020T>G (p.Gly340=) c.2541T>G (p.Gly847=) c.2805T>G (p.Gly935=) c.2129-860T>G (n.2129-860T>G) n.2878T>G n.3086T>G c.2295T>G (p.Gly765=) c.1320T>G (p.Gly440=) c.2034T>G (p.Gly678=) c.3012T>G (p.Gly1004=) n.2830T>G n.3038T>G | gnomAD v4 |
1 | g.197434740T= | CA1218068651 | CRB1 | c.2877T= (p.Gly959=) c.1758T= (p.Gly586=) c.1020T= (p.Gly340=) c.2541T= (p.Gly847=) c.2805T= (p.Gly935=) c.2129-860T= (n.2129-860T=) n.2878T= n.3086T= c.2295T= (p.Gly765=) c.1320T= (p.Gly440=) c.2034T= (p.Gly678=) c.3012T= (p.Gly1004=) n.2830T= n.3038T= | |
1 | g.197434741C>A | CA344043169 | CRB1 | c.2878C>A (p.Gln960Lys) c.1759C>A (p.Gln587Lys) c.1021C>A (p.Gln341Lys) c.2542C>A (p.Gln848Lys) c.2806C>A (p.Gln936Lys) c.2129-859C>A (n.2129-859C>A) n.2879C>A n.3087C>A c.2296C>A (p.Gln766Lys) c.1321C>A (p.Gln441Lys) c.2035C>A (p.Gln679Lys) c.3013C>A (p.Gln1005Lys) n.2831C>A n.3039C>A | gnomAD v4 |
1 | g.197434741C>G | CA344043170 | CRB1 | c.2878C>G (p.Gln960Glu) c.1759C>G (p.Gln587Glu) c.1021C>G (p.Gln341Glu) c.2542C>G (p.Gln848Glu) c.2806C>G (p.Gln936Glu) c.2129-859C>G (n.2129-859C>G) n.2879C>G n.3087C>G c.2296C>G (p.Gln766Glu) c.1321C>G (p.Gln441Glu) c.2035C>G (p.Gln679Glu) c.3013C>G (p.Gln1005Glu) n.2831C>G n.3039C>G | |
1 | g.197434741C>T | CA344043171 | CRB1 | c.2878C>T (p.Gln960Ter) c.1759C>T (p.Gln587Ter) c.1021C>T (p.Gln341Ter) c.2542C>T (p.Gln848Ter) c.2806C>T (p.Gln936Ter) c.2129-859C>T (n.2129-859C>T) n.2879C>T n.3087C>T c.2296C>T (p.Gln766Ter) c.1321C>T (p.Gln441Ter) c.2035C>T (p.Gln679Ter) c.3013C>T (p.Gln1005Ter) n.2831C>T n.3039C>T | |
1 | g.197434741_197434742delinsCA | CA1218068652 | CRB1 | c.2878_2879delinsCA (p.Gln960=) c.1759_1760delinsCA (p.Gln587=) c.1021_1022delinsCA (p.Gln341=) c.2542_2543delinsCA (p.Gln848=) c.2806_2807delinsCA (p.Gln936=) c.2129-859_2129-858delinsCA (n.2129-859_2129-858delinsCA) n.2879_2880delinsCA n.3087_3088delinsCA c.2296_2297delinsCA (p.Gln766=) c.1321_1322delinsCA (p.Gln441=) c.2035_2036delinsCA (p.Gln679=) c.3013_3014delinsCA (p.Gln1005=) n.2831_2832delinsCA n.3039_3040delinsCA | |
1 | g.197434742A>C | CA344043180 | CRB1 | c.2879A>C (p.Gln960Pro) c.1760A>C (p.Gln587Pro) c.1022A>C (p.Gln341Pro) c.2543A>C (p.Gln848Pro) c.2807A>C (p.Gln936Pro) c.2129-858A>C (n.2129-858A>C) n.2880A>C n.3088A>C c.2297A>C (p.Gln766Pro) c.1322A>C (p.Gln441Pro) c.2036A>C (p.Gln679Pro) c.3014A>C (p.Gln1005Pro) n.2832A>C n.3040A>C | |
1 | g.197434742A>G | CA344043173 | CRB1 | c.2879A>G (p.Gln960Arg) c.1760A>G (p.Gln587Arg) c.1022A>G (p.Gln341Arg) c.2543A>G (p.Gln848Arg) c.2807A>G (p.Gln936Arg) c.2129-858A>G (n.2129-858A>G) n.2880A>G n.3088A>G c.2297A>G (p.Gln766Arg) c.1322A>G (p.Gln441Arg) c.2036A>G (p.Gln679Arg) c.3014A>G (p.Gln1005Arg) n.2832A>G n.3040A>G | |
1 | g.197434742A>T | CA344043175 | CRB1 | c.2879A>T (p.Gln960Leu) c.1760A>T (p.Gln587Leu) c.1022A>T (p.Gln341Leu) c.2543A>T (p.Gln848Leu) c.2807A>T (p.Gln936Leu) c.2129-858A>T (n.2129-858A>T) n.2880A>T n.3088A>T c.2297A>T (p.Gln766Leu) c.1322A>T (p.Gln441Leu) c.2036A>T (p.Gln679Leu) c.3014A>T (p.Gln1005Leu) n.2832A>T n.3040A>T | |
1 | g.197434744del | CA528535452 | CRB1 | c.2881del (p.Ile961TyrfsTer27) c.1762del (p.Ile588TyrfsTer27) c.1024del (p.Ile342TyrfsTer27) c.2545del (p.Ile849TyrfsTer27) c.2809del (p.Ile937TyrfsTer27) c.2129-856del (n.2129-856del) n.2882del n.3090del c.2299del (p.Ile767TyrfsTer27) c.1324del (p.Ile442TyrfsTer27) c.2038del (p.Ile680TyrfsTer27) c.3016del (p.Ile1006TyrfsTer27) n.2834del n.3042del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.197434743A= | CA1218068653 | CRB1 | c.2880A= (p.Gln960=) c.1761A= (p.Gln587=) c.1023A= (p.Gln341=) c.2544A= (p.Gln848=) c.2808A= (p.Gln936=) c.2129-857A= (n.2129-857A=) n.2881A= n.3089A= c.2298A= (p.Gln766=) c.1323A= (p.Gln441=) c.2037A= (p.Gln679=) c.3015A= (p.Gln1005=) n.2833A= n.3041A= | |
1 | g.197434743A>C | CA344043184 | CRB1 | c.2880A>C (p.Gln960His) c.1761A>C (p.Gln587His) c.1023A>C (p.Gln341His) c.2544A>C (p.Gln848His) c.2808A>C (p.Gln936His) c.2129-857A>C (n.2129-857A>C) n.2881A>C n.3089A>C c.2298A>C (p.Gln766His) c.1323A>C (p.Gln441His) c.2037A>C (p.Gln679His) c.3015A>C (p.Gln1005His) n.2833A>C n.3041A>C | |
1 | g.197434743A>G | CA422672521 | CRB1 | c.2880A>G (p.Gln960=) c.1761A>G (p.Gln587=) c.1023A>G (p.Gln341=) c.2544A>G (p.Gln848=) c.2808A>G (p.Gln936=) c.2129-857A>G (n.2129-857A>G) n.2881A>G n.3089A>G c.2298A>G (p.Gln766=) c.1323A>G (p.Gln441=) c.2037A>G (p.Gln679=) c.3015A>G (p.Gln1005=) n.2833A>G n.3041A>G | |
1 | g.197434743A>T | CA35906566 | CRB1 | c.2880A>T (p.Gln960His) c.1761A>T (p.Gln587His) c.1023A>T (p.Gln341His) c.2544A>T (p.Gln848His) c.2808A>T (p.Gln936His) c.2129-857A>T (n.2129-857A>T) n.2881A>T n.3089A>T c.2298A>T (p.Gln766His) c.1323A>T (p.Gln441His) c.2037A>T (p.Gln679His) c.3015A>T (p.Gln1005His) n.2833A>T n.3041A>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197434744A>C | CA344043196 | CRB1 | c.2881A>C (p.Ile961Leu) c.1762A>C (p.Ile588Leu) c.1024A>C (p.Ile342Leu) c.2545A>C (p.Ile849Leu) c.2809A>C (p.Ile937Leu) c.2129-856A>C (n.2129-856A>C) n.2882A>C n.3090A>C c.2299A>C (p.Ile767Leu) c.1324A>C (p.Ile442Leu) c.2038A>C (p.Ile680Leu) c.3016A>C (p.Ile1006Leu) n.2834A>C n.3042A>C | |
1 | g.197434744A>G | CA344043204 | CRB1 | c.2881A>G (p.Ile961Val) c.1762A>G (p.Ile588Val) c.1024A>G (p.Ile342Val) c.2545A>G (p.Ile849Val) c.2809A>G (p.Ile937Val) c.2129-856A>G (n.2129-856A>G) n.2882A>G n.3090A>G c.2299A>G (p.Ile767Val) c.1324A>G (p.Ile442Val) c.2038A>G (p.Ile680Val) c.3016A>G (p.Ile1006Val) n.2834A>G n.3042A>G | gnomAD v4 |
1 | g.197434744A>T | CA344043206 | CRB1 | c.2881A>T (p.Ile961Leu) c.1762A>T (p.Ile588Leu) c.1024A>T (p.Ile342Leu) c.2545A>T (p.Ile849Leu) c.2809A>T (p.Ile937Leu) c.2129-856A>T (n.2129-856A>T) n.2882A>T n.3090A>T c.2299A>T (p.Ile767Leu) c.1324A>T (p.Ile442Leu) c.2038A>T (p.Ile680Leu) c.3016A>T (p.Ile1006Leu) n.2834A>T n.3042A>T | |
1 | g.197434744_197434747delinsATAT | CA1218068654 | CRB1 | c.2881_2884delinsATAT (p.Ile961=) c.1762_1765delinsATAT (p.Ile588=) c.1024_1027delinsATAT (p.Ile342=) c.2545_2548delinsATAT (p.Ile849=) c.2809_2812delinsATAT (p.Ile937=) c.2129-856_2129-853delinsATAT (n.2129-856_2129-853delinsATAT) n.2882_2885delinsATAT n.3090_3093delinsATAT c.2299_2302delinsATAT (p.Ile767=) c.1324_1327delinsATAT (p.Ile442=) c.2038_2041delinsATAT (p.Ile680=) c.3016_3019delinsATAT (p.Ile1006=) n.2834_2837delinsATAT n.3042_3045delinsATAT | |
1 | g.197434745T>A | CA344043217 | CRB1 | c.2882T>A (p.Ile961Lys) c.1763T>A (p.Ile588Lys) c.1025T>A (p.Ile342Lys) c.2546T>A (p.Ile849Lys) c.2810T>A (p.Ile937Lys) c.2129-855T>A (n.2129-855T>A) n.2883T>A n.3091T>A c.2300T>A (p.Ile767Lys) c.1325T>A (p.Ile442Lys) c.2039T>A (p.Ile680Lys) c.3017T>A (p.Ile1006Lys) n.2835T>A n.3043T>A | |
1 | g.197434745T>C | CA344043210 | CRB1 | c.2882T>C (p.Ile961Thr) c.1763T>C (p.Ile588Thr) c.1025T>C (p.Ile342Thr) c.2546T>C (p.Ile849Thr) c.2810T>C (p.Ile937Thr) c.2129-855T>C (n.2129-855T>C) n.2883T>C n.3091T>C c.2300T>C (p.Ile767Thr) c.1325T>C (p.Ile442Thr) c.2039T>C (p.Ile680Thr) c.3017T>C (p.Ile1006Thr) n.2835T>C n.3043T>C | dbSNP gnomAD v4 |
1 | g.197434745T>G | CA344043215 | CRB1 | c.2882T>G (p.Ile961Arg) c.1763T>G (p.Ile588Arg) c.1025T>G (p.Ile342Arg) c.2546T>G (p.Ile849Arg) c.2810T>G (p.Ile937Arg) c.2129-855T>G (n.2129-855T>G) n.2883T>G n.3091T>G c.2300T>G (p.Ile767Arg) c.1325T>G (p.Ile442Arg) c.2039T>G (p.Ile680Arg) c.3017T>G (p.Ile1006Arg) n.2835T>G n.3043T>G | |
1 | g.197434745_197434751delinsTATTATT | CA1140762957 | CRB1 | c.2882_2888delinsTATTATT (p.Ile961=) c.1763_1769delinsTATTATT (p.Ile588=) c.1025_1031delinsTATTATT (p.Ile342=) c.2546_2552delinsTATTATT (p.Ile849=) c.2810_2816delinsTATTATT (p.Ile937=) c.2129-855_2129-849delinsTATTATT (n.2129-855_2129-849delinsTATTATT) n.2883_2889delinsTATTATT n.3091_3097delinsTATTATT c.2300_2306delinsTATTATT (p.Ile767=) c.1325_1331delinsTATTATT (p.Ile442=) c.2039_2045delinsTATTATT (p.Ile680=) c.3017_3023delinsTATTATT (p.Ile1006=) n.2835_2841delinsTATTATT n.3043_3049delinsTATTATT | |
1 | g.197434749_197434751del | CA228026 | CRB1 | c.2886_2888del (p.Leu962del) c.1767_1769del (p.Leu589del) c.1029_1031del (p.Leu343del) c.2550_2552del (p.Leu850del) c.2814_2816del (p.Leu938del) c.2129-851_2129-849del (n.2129-851_2129-849del) n.2887_2889del n.3095_3097del c.2304_2306del (p.Leu768del) c.1329_1331del (p.Leu443del) c.2043_2045del (p.Leu681del) c.3021_3023del (p.Leu1007del) n.2839_2841del n.3047_3049del | ClinVar dbSNP gnomAD v4 |
1 | g.197434746A>C | CA422672522 | CRB1 | c.2883A>C (p.Ile961=) c.1764A>C (p.Ile588=) c.1026A>C (p.Ile342=) c.2547A>C (p.Ile849=) c.2811A>C (p.Ile937=) c.2129-854A>C (n.2129-854A>C) n.2884A>C n.3092A>C c.2301A>C (p.Ile767=) c.1326A>C (p.Ile442=) c.2040A>C (p.Ile680=) c.3018A>C (p.Ile1006=) n.2836A>C n.3044A>C | |
1 | g.197434746A>G | CA344043220 | CRB1 | c.2883A>G (p.Ile961Met) c.1764A>G (p.Ile588Met) c.1026A>G (p.Ile342Met) c.2547A>G (p.Ile849Met) c.2811A>G (p.Ile937Met) c.2129-854A>G (n.2129-854A>G) n.2884A>G n.3092A>G c.2301A>G (p.Ile767Met) c.1326A>G (p.Ile442Met) c.2040A>G (p.Ile680Met) c.3018A>G (p.Ile1006Met) n.2836A>G n.3044A>G | gnomAD v4 |
1 | g.197434746A>T | CA422672523 | CRB1 | c.2883A>T (p.Ile961=) c.1764A>T (p.Ile588=) c.1026A>T (p.Ile342=) c.2547A>T (p.Ile849=) c.2811A>T (p.Ile937=) c.2129-854A>T (n.2129-854A>T) n.2884A>T n.3092A>T c.2301A>T (p.Ile767=) c.1326A>T (p.Ile442=) c.2040A>T (p.Ile680=) c.3018A>T (p.Ile1006=) n.2836A>T n.3044A>T | |
1 | g.197434747T>A | CA344043222 | CRB1 | c.2884T>A (p.Leu962Ile) c.1765T>A (p.Leu589Ile) c.1027T>A (p.Leu343Ile) c.2548T>A (p.Leu850Ile) c.2812T>A (p.Leu938Ile) c.2129-853T>A (n.2129-853T>A) n.2885T>A n.3093T>A c.2302T>A (p.Leu768Ile) c.1327T>A (p.Leu443Ile) c.2041T>A (p.Leu681Ile) c.3019T>A (p.Leu1007Ile) n.2837T>A n.3045T>A | |
1 | g.197434747T>C | CA422672524 | CRB1 | c.2884T>C (p.Leu962=) c.1765T>C (p.Leu589=) c.1027T>C (p.Leu343=) c.2548T>C (p.Leu850=) c.2812T>C (p.Leu938=) c.2129-853T>C (n.2129-853T>C) n.2885T>C n.3093T>C c.2302T>C (p.Leu768=) c.1327T>C (p.Leu443=) c.2041T>C (p.Leu681=) c.3019T>C (p.Leu1007=) n.2837T>C n.3045T>C | |
1 | g.197434747T>G | CA344043225 | CRB1 | c.2884T>G (p.Leu962Val) c.1765T>G (p.Leu589Val) c.1027T>G (p.Leu343Val) c.2548T>G (p.Leu850Val) c.2812T>G (p.Leu938Val) c.2129-853T>G (n.2129-853T>G) n.2885T>G n.3093T>G c.2302T>G (p.Leu768Val) c.1327T>G (p.Leu443Val) c.2041T>G (p.Leu681Val) c.3019T>G (p.Leu1007Val) n.2837T>G n.3045T>G | |
1 | g.197434748dup | CA2649670636 | CRB1 | c.2885dup (p.Leu962PhefsTer?) c.1766dup (p.Leu589PhefsTer?) c.1028dup (p.Leu343PhefsTer?) c.2549dup (p.Leu850PhefsTer?) c.2813dup (p.Leu938PhefsTer?) c.2129-852dup (n.2129-852dup) n.2886dup n.3094dup c.2303dup (p.Leu768PhefsTer?) c.1328dup (p.Leu443PhefsTer?) c.2042dup (p.Leu681PhefsTer?) c.3020dup (p.Leu1007PhefsTer?) n.2838dup n.3046dup | gnomAD v4 |
1 | g.197434748T>A | CA344043230 | CRB1 | c.2885T>A (p.Leu962Ter) c.1766T>A (p.Leu589Ter) c.1028T>A (p.Leu343Ter) c.2549T>A (p.Leu850Ter) c.2813T>A (p.Leu938Ter) c.2129-852T>A (n.2129-852T>A) n.2886T>A n.3094T>A c.2303T>A (p.Leu768Ter) c.1328T>A (p.Leu443Ter) c.2042T>A (p.Leu681Ter) c.3020T>A (p.Leu1007Ter) n.2838T>A n.3046T>A | ClinVar |
1 | g.197434748T>C | CA344043231 | CRB1 | c.2885T>C (p.Leu962Ser) c.1766T>C (p.Leu589Ser) c.1028T>C (p.Leu343Ser) c.2549T>C (p.Leu850Ser) c.2813T>C (p.Leu938Ser) c.2129-852T>C (n.2129-852T>C) n.2886T>C n.3094T>C c.2303T>C (p.Leu768Ser) c.1328T>C (p.Leu443Ser) c.2042T>C (p.Leu681Ser) c.3020T>C (p.Leu1007Ser) n.2838T>C n.3046T>C | COSMIC |
1 | g.197434748T>G | CA344043232 | CRB1 | c.2885T>G (p.Leu962Ter) c.1766T>G (p.Leu589Ter) c.1028T>G (p.Leu343Ter) c.2549T>G (p.Leu850Ter) c.2813T>G (p.Leu938Ter) c.2129-852T>G (n.2129-852T>G) n.2886T>G n.3094T>G c.2303T>G (p.Leu768Ter) c.1328T>G (p.Leu443Ter) c.2042T>G (p.Leu681Ter) c.3020T>G (p.Leu1007Ter) n.2838T>G n.3046T>G | |
1 | g.197434749A>C | CA344043235 | CRB1 | c.2886A>C (p.Leu962Phe) c.1767A>C (p.Leu589Phe) c.1029A>C (p.Leu343Phe) c.2550A>C (p.Leu850Phe) c.2814A>C (p.Leu938Phe) c.2129-851A>C (n.2129-851A>C) n.2887A>C n.3095A>C c.2304A>C (p.Leu768Phe) c.1329A>C (p.Leu443Phe) c.2043A>C (p.Leu681Phe) c.3021A>C (p.Leu1007Phe) n.2839A>C n.3047A>C | |
1 | g.197434749A>G | CA422672525 | CRB1 | c.2886A>G (p.Leu962=) c.1767A>G (p.Leu589=) c.1029A>G (p.Leu343=) c.2550A>G (p.Leu850=) c.2814A>G (p.Leu938=) c.2129-851A>G (n.2129-851A>G) n.2887A>G n.3095A>G c.2304A>G (p.Leu768=) c.1329A>G (p.Leu443=) c.2043A>G (p.Leu681=) c.3021A>G (p.Leu1007=) n.2839A>G n.3047A>G | |
1 | g.197434749A>T | CA344043237 | CRB1 | c.2886A>T (p.Leu962Phe) c.1767A>T (p.Leu589Phe) c.1029A>T (p.Leu343Phe) c.2550A>T (p.Leu850Phe) c.2814A>T (p.Leu938Phe) c.2129-851A>T (n.2129-851A>T) n.2887A>T n.3095A>T c.2304A>T (p.Leu768Phe) c.1329A>T (p.Leu443Phe) c.2043A>T (p.Leu681Phe) c.3021A>T (p.Leu1007Phe) n.2839A>T n.3047A>T | gnomAD v4 |
1 | g.197434750T>A | CA344043239 | CRB1 | c.2887T>A (p.Phe963Ile) c.1768T>A (p.Phe590Ile) c.1030T>A (p.Phe344Ile) c.2551T>A (p.Phe851Ile) c.2815T>A (p.Phe939Ile) c.2129-850T>A (n.2129-850T>A) n.2888T>A n.3096T>A c.2305T>A (p.Phe769Ile) c.1330T>A (p.Phe444Ile) c.2044T>A (p.Phe682Ile) c.3022T>A (p.Phe1008Ile) n.2840T>A n.3048T>A | |
1 | g.197434750T>C | CA344043245 | CRB1 | c.2887T>C (p.Phe963Leu) c.1768T>C (p.Phe590Leu) c.1030T>C (p.Phe344Leu) c.2551T>C (p.Phe851Leu) c.2815T>C (p.Phe939Leu) c.2129-850T>C (n.2129-850T>C) n.2888T>C n.3096T>C c.2305T>C (p.Phe769Leu) c.1330T>C (p.Phe444Leu) c.2044T>C (p.Phe682Leu) c.3022T>C (p.Phe1008Leu) n.2840T>C n.3048T>C | |
1 | g.197434750T>G | CA344043247 | CRB1 | c.2887T>G (p.Phe963Val) c.1768T>G (p.Phe590Val) c.1030T>G (p.Phe344Val) c.2551T>G (p.Phe851Val) c.2815T>G (p.Phe939Val) c.2129-850T>G (n.2129-850T>G) n.2888T>G n.3096T>G c.2305T>G (p.Phe769Val) c.1330T>G (p.Phe444Val) c.2044T>G (p.Phe682Val) c.3022T>G (p.Phe1008Val) n.2840T>G n.3048T>G | |
1 | g.197434751T>A | CA344043251 | CRB1 | c.2888T>A (p.Phe963Tyr) c.1769T>A (p.Phe590Tyr) c.1031T>A (p.Phe344Tyr) c.2552T>A (p.Phe851Tyr) c.2816T>A (p.Phe939Tyr) c.2129-849T>A (n.2129-849T>A) n.2889T>A n.3097T>A c.2306T>A (p.Phe769Tyr) c.1331T>A (p.Phe444Tyr) c.2045T>A (p.Phe682Tyr) c.3023T>A (p.Phe1008Tyr) n.2841T>A n.3049T>A | |
1 | g.197434751T>C | CA344043258 | CRB1 | c.2888T>C (p.Phe963Ser) c.1769T>C (p.Phe590Ser) c.1031T>C (p.Phe344Ser) c.2552T>C (p.Phe851Ser) c.2816T>C (p.Phe939Ser) c.2129-849T>C (n.2129-849T>C) n.2889T>C n.3097T>C c.2306T>C (p.Phe769Ser) c.1331T>C (p.Phe444Ser) c.2045T>C (p.Phe682Ser) c.3023T>C (p.Phe1008Ser) n.2841T>C n.3049T>C | |
1 | g.197434751T>G | CA344043255 | CRB1 | c.2888T>G (p.Phe963Cys) c.1769T>G (p.Phe590Cys) c.1031T>G (p.Phe344Cys) c.2552T>G (p.Phe851Cys) c.2816T>G (p.Phe939Cys) c.2129-849T>G (n.2129-849T>G) n.2889T>G n.3097T>G c.2306T>G (p.Phe769Cys) c.1331T>G (p.Phe444Cys) c.2045T>G (p.Phe682Cys) c.3023T>G (p.Phe1008Cys) n.2841T>G n.3049T>G | |
1 | g.197434752C>A | CA35906580 | CRB1 | c.2889C>A (p.Phe963Leu) c.1770C>A (p.Phe590Leu) c.1032C>A (p.Phe344Leu) c.2553C>A (p.Phe851Leu) c.2817C>A (p.Phe939Leu) c.2129-848C>A (n.2129-848C>A) n.2890C>A n.3098C>A c.2307C>A (p.Phe769Leu) c.1332C>A (p.Phe444Leu) c.2046C>A (p.Phe682Leu) c.3024C>A (p.Phe1008Leu) n.2842C>A n.3050C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.197434752C= | CA1218068655 | CRB1 | c.2889C= (p.Phe963=) c.1770C= (p.Phe590=) c.1032C= (p.Phe344=) c.2553C= (p.Phe851=) c.2817C= (p.Phe939=) c.2129-848C= (n.2129-848C=) n.2890C= n.3098C= c.2307C= (p.Phe769=) c.1332C= (p.Phe444=) c.2046C= (p.Phe682=) c.3024C= (p.Phe1008=) n.2842C= n.3050C= | |
1 | g.197434752C>G | CA344043264 | CRB1 | c.2889C>G (p.Phe963Leu) c.1770C>G (p.Phe590Leu) c.1032C>G (p.Phe344Leu) c.2553C>G (p.Phe851Leu) c.2817C>G (p.Phe939Leu) c.2129-848C>G (n.2129-848C>G) n.2890C>G n.3098C>G c.2307C>G (p.Phe769Leu) c.1332C>G (p.Phe444Leu) c.2046C>G (p.Phe682Leu) c.3024C>G (p.Phe1008Leu) n.2842C>G n.3050C>G | ClinVar dbSNP |
1 | g.197434752C>T | CA422672526 | CRB1 | c.2889C>T (p.Phe963=) c.1770C>T (p.Phe590=) c.1032C>T (p.Phe344=) c.2553C>T (p.Phe851=) c.2817C>T (p.Phe939=) c.2129-848C>T (n.2129-848C>T) n.2890C>T n.3098C>T c.2307C>T (p.Phe769=) c.1332C>T (p.Phe444=) c.2046C>T (p.Phe682=) c.3024C>T (p.Phe1008=) n.2842C>T n.3050C>T | |
1 | g.197434753A>C | CA422672527 | CRB1 | c.2890A>C (p.Arg964=) c.1771A>C (p.Arg591=) c.1033A>C (p.Arg345=) c.2554A>C (p.Arg852=) c.2818A>C (p.Arg940=) c.2129-847A>C (n.2129-847A>C) n.2891A>C n.3099A>C c.2308A>C (p.Arg770=) c.1333A>C (p.Arg445=) c.2047A>C (p.Arg683=) c.3025A>C (p.Arg1009=) n.2843A>C n.3051A>C | |
1 | g.197434753A>G | CA344043269 | CRB1 | c.2890A>G (p.Arg964Gly) c.1771A>G (p.Arg591Gly) c.1033A>G (p.Arg345Gly) c.2554A>G (p.Arg852Gly) c.2818A>G (p.Arg940Gly) c.2129-847A>G (n.2129-847A>G) n.2891A>G n.3099A>G c.2308A>G (p.Arg770Gly) c.1333A>G (p.Arg445Gly) c.2047A>G (p.Arg683Gly) c.3025A>G (p.Arg1009Gly) n.2843A>G n.3051A>G | |
1 | g.197434753A>T | CA344043272 | CRB1 | c.2890A>T (p.Arg964Ter) c.1771A>T (p.Arg591Ter) c.1033A>T (p.Arg345Ter) c.2554A>T (p.Arg852Ter) c.2818A>T (p.Arg940Ter) c.2129-847A>T (n.2129-847A>T) n.2891A>T n.3099A>T c.2308A>T (p.Arg770Ter) c.1333A>T (p.Arg445Ter) c.2047A>T (p.Arg683Ter) c.3025A>T (p.Arg1009Ter) n.2843A>T n.3051A>T | |
1 | g.197434754G>A | CA344043277 | CRB1 | c.2891G>A (p.Arg964Lys) c.1772G>A (p.Arg591Lys) c.1034G>A (p.Arg345Lys) c.2555G>A (p.Arg852Lys) c.2819G>A (p.Arg940Lys) c.2129-846G>A (n.2129-846G>A) n.2892G>A n.3100G>A c.2309G>A (p.Arg770Lys) c.1334G>A (p.Arg445Lys) c.2048G>A (p.Arg683Lys) c.3026G>A (p.Arg1009Lys) n.2844G>A n.3052G>A | COSMIC COSMIC |
1 | g.197434754G>C | CA344043280 | CRB1 | c.2891G>C (p.Arg964Thr) c.1772G>C (p.Arg591Thr) c.1034G>C (p.Arg345Thr) c.2555G>C (p.Arg852Thr) c.2819G>C (p.Arg940Thr) c.2129-846G>C (n.2129-846G>C) n.2892G>C n.3100G>C c.2309G>C (p.Arg770Thr) c.1334G>C (p.Arg445Thr) c.2048G>C (p.Arg683Thr) c.3026G>C (p.Arg1009Thr) n.2844G>C n.3052G>C | gnomAD v4 |
1 | g.197434754G>T | CA344043283 | CRB1 | c.2891G>T (p.Arg964Ile) c.1772G>T (p.Arg591Ile) c.1034G>T (p.Arg345Ile) c.2555G>T (p.Arg852Ile) c.2819G>T (p.Arg940Ile) c.2129-846G>T (n.2129-846G>T) n.2892G>T n.3100G>T c.2309G>T (p.Arg770Ile) c.1334G>T (p.Arg445Ile) c.2048G>T (p.Arg683Ile) c.3026G>T (p.Arg1009Ile) n.2844G>T n.3052G>T | |
1 | g.197434755A= | CA1142137119 | CRB1 | c.2892A= (p.Arg964=) c.1773A= (p.Arg591=) c.1035A= (p.Arg345=) c.2556A= (p.Arg852=) c.2820A= (p.Arg940=) c.2129-845A= (n.2129-845A=) n.2893A= n.3101A= c.2310A= (p.Arg770=) c.1335A= (p.Arg445=) c.2049A= (p.Arg683=) c.3027A= (p.Arg1009=) n.2845A= n.3053A= | |
1 | g.197434755A>C | CA344043286 | CRB1 | c.2892A>C (p.Arg964Ser) c.1773A>C (p.Arg591Ser) c.1035A>C (p.Arg345Ser) c.2556A>C (p.Arg852Ser) c.2820A>C (p.Arg940Ser) c.2129-845A>C (n.2129-845A>C) n.2893A>C n.3101A>C c.2310A>C (p.Arg770Ser) c.1335A>C (p.Arg445Ser) c.2049A>C (p.Arg683Ser) c.3027A>C (p.Arg1009Ser) n.2845A>C n.3053A>C | |
1 | g.197434755A>G | CA1312242 | CRB1 | c.2892A>G (p.Arg964=) c.1773A>G (p.Arg591=) c.1035A>G (p.Arg345=) c.2556A>G (p.Arg852=) c.2820A>G (p.Arg940=) c.2129-845A>G (n.2129-845A>G) n.2893A>G n.3101A>G c.2310A>G (p.Arg770=) c.1335A>G (p.Arg445=) c.2049A>G (p.Arg683=) c.3027A>G (p.Arg1009=) n.2845A>G n.3053A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434755A>T | CA344043290 | CRB1 | c.2892A>T (p.Arg964Ser) c.1773A>T (p.Arg591Ser) c.1035A>T (p.Arg345Ser) c.2556A>T (p.Arg852Ser) c.2820A>T (p.Arg940Ser) c.2129-845A>T (n.2129-845A>T) n.2893A>T n.3101A>T c.2310A>T (p.Arg770Ser) c.1335A>T (p.Arg445Ser) c.2049A>T (p.Arg683Ser) c.3027A>T (p.Arg1009Ser) n.2845A>T n.3053A>T | |
1 | g.197434756A>C | CA344043297 | CRB1 | c.2893A>C (p.Ser965Arg) c.1774A>C (p.Ser592Arg) c.1036A>C (p.Ser346Arg) c.2557A>C (p.Ser853Arg) c.2821A>C (p.Ser941Arg) c.2129-844A>C (n.2129-844A>C) n.2894A>C n.3102A>C c.2311A>C (p.Ser771Arg) c.1336A>C (p.Ser446Arg) c.2050A>C (p.Ser684Arg) c.3028A>C (p.Ser1010Arg) n.2846A>C n.3054A>C | |
1 | g.197434756A>G | CA344043299 | CRB1 | c.2893A>G (p.Ser965Gly) c.1774A>G (p.Ser592Gly) c.1036A>G (p.Ser346Gly) c.2557A>G (p.Ser853Gly) c.2821A>G (p.Ser941Gly) c.2129-844A>G (n.2129-844A>G) n.2894A>G n.3102A>G c.2311A>G (p.Ser771Gly) c.1336A>G (p.Ser446Gly) c.2050A>G (p.Ser684Gly) c.3028A>G (p.Ser1010Gly) n.2846A>G n.3054A>G | gnomAD v4 |
1 | g.197434756A>T | CA344043301 | CRB1 | c.2893A>T (p.Ser965Cys) c.1774A>T (p.Ser592Cys) c.1036A>T (p.Ser346Cys) c.2557A>T (p.Ser853Cys) c.2821A>T (p.Ser941Cys) c.2129-844A>T (n.2129-844A>T) n.2894A>T n.3102A>T c.2311A>T (p.Ser771Cys) c.1336A>T (p.Ser446Cys) c.2050A>T (p.Ser684Cys) c.3028A>T (p.Ser1010Cys) n.2846A>T n.3054A>T | |
1 | g.197434757G>A | CA35906593 | CRB1 | c.2894G>A (p.Ser965Asn) c.1775G>A (p.Ser592Asn) c.1037G>A (p.Ser346Asn) c.2558G>A (p.Ser853Asn) c.2822G>A (p.Ser941Asn) c.2129-843G>A (n.2129-843G>A) n.2895G>A n.3103G>A c.2312G>A (p.Ser771Asn) c.1337G>A (p.Ser446Asn) c.2051G>A (p.Ser684Asn) c.3029G>A (p.Ser1010Asn) n.2847G>A n.3055G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.197434757G>C | CA344043308 | CRB1 | c.2894G>C (p.Ser965Thr) c.1775G>C (p.Ser592Thr) c.1037G>C (p.Ser346Thr) c.2558G>C (p.Ser853Thr) c.2822G>C (p.Ser941Thr) c.2129-843G>C (n.2129-843G>C) n.2895G>C n.3103G>C c.2312G>C (p.Ser771Thr) c.1337G>C (p.Ser446Thr) c.2051G>C (p.Ser684Thr) c.3029G>C (p.Ser1010Thr) n.2847G>C n.3055G>C | |
1 | g.197434757G= | CA1218068656 | CRB1 | c.2894G= (p.Ser965=) c.1775G= (p.Ser592=) c.1037G= (p.Ser346=) c.2558G= (p.Ser853=) c.2822G= (p.Ser941=) c.2129-843G= (n.2129-843G=) n.2895G= n.3103G= c.2312G= (p.Ser771=) c.1337G= (p.Ser446=) c.2051G= (p.Ser684=) c.3029G= (p.Ser1010=) n.2847G= n.3055G= | |
1 | g.197434757G>T | CA344043305 | CRB1 | c.2894G>T (p.Ser965Ile) c.1775G>T (p.Ser592Ile) c.1037G>T (p.Ser346Ile) c.2558G>T (p.Ser853Ile) c.2822G>T (p.Ser941Ile) c.2129-843G>T (n.2129-843G>T) n.2895G>T n.3103G>T c.2312G>T (p.Ser771Ile) c.1337G>T (p.Ser446Ile) c.2051G>T (p.Ser684Ile) c.3029G>T (p.Ser1010Ile) n.2847G>T n.3055G>T | |
1 | g.197434758C>A | CA344043310 | CRB1 | c.2895C>A (p.Ser965Arg) c.1776C>A (p.Ser592Arg) c.1038C>A (p.Ser346Arg) c.2559C>A (p.Ser853Arg) c.2823C>A (p.Ser941Arg) c.2129-842C>A (n.2129-842C>A) n.2896C>A n.3104C>A c.2313C>A (p.Ser771Arg) c.1338C>A (p.Ser446Arg) c.2052C>A (p.Ser684Arg) c.3030C>A (p.Ser1010Arg) n.2848C>A n.3056C>A | |
1 | g.197434758C>G | CA344043313 | CRB1 | c.2895C>G (p.Ser965Arg) c.1776C>G (p.Ser592Arg) c.1038C>G (p.Ser346Arg) c.2559C>G (p.Ser853Arg) c.2823C>G (p.Ser941Arg) c.2129-842C>G (n.2129-842C>G) n.2896C>G n.3104C>G c.2313C>G (p.Ser771Arg) c.1338C>G (p.Ser446Arg) c.2052C>G (p.Ser684Arg) c.3030C>G (p.Ser1010Arg) n.2848C>G n.3056C>G | |
1 | g.197434758C>T | CA422672528 | CRB1 | c.2895C>T (p.Ser965=) c.1776C>T (p.Ser592=) c.1038C>T (p.Ser346=) c.2559C>T (p.Ser853=) c.2823C>T (p.Ser941=) c.2129-842C>T (n.2129-842C>T) n.2896C>T n.3104C>T c.2313C>T (p.Ser771=) c.1338C>T (p.Ser446=) c.2052C>T (p.Ser684=) c.3030C>T (p.Ser1010=) n.2848C>T n.3056C>T | |
1 | g.197434759A>C | CA344043318 | CRB1 | c.2896A>C (p.Asn966His) c.1777A>C (p.Asn593His) c.1039A>C (p.Asn347His) c.2560A>C (p.Asn854His) c.2824A>C (p.Asn942His) c.2129-841A>C (n.2129-841A>C) n.2897A>C n.3105A>C c.2314A>C (p.Asn772His) c.1339A>C (p.Asn447His) c.2053A>C (p.Asn685His) c.3031A>C (p.Asn1011His) n.2849A>C n.3057A>C | |
1 | g.197434759A>G | CA344043320 | CRB1 | c.2896A>G (p.Asn966Asp) c.1777A>G (p.Asn593Asp) c.1039A>G (p.Asn347Asp) c.2560A>G (p.Asn854Asp) c.2824A>G (p.Asn942Asp) c.2129-841A>G (n.2129-841A>G) n.2897A>G n.3105A>G c.2314A>G (p.Asn772Asp) c.1339A>G (p.Asn447Asp) c.2053A>G (p.Asn685Asp) c.3031A>G (p.Asn1011Asp) n.2849A>G n.3057A>G | |
1 | g.197434759A>T | CA344043322 | CRB1 | c.2896A>T (p.Asn966Tyr) c.1777A>T (p.Asn593Tyr) c.1039A>T (p.Asn347Tyr) c.2560A>T (p.Asn854Tyr) c.2824A>T (p.Asn942Tyr) c.2129-841A>T (n.2129-841A>T) n.2897A>T n.3105A>T c.2314A>T (p.Asn772Tyr) c.1339A>T (p.Asn447Tyr) c.2053A>T (p.Asn685Tyr) c.3031A>T (p.Asn1011Tyr) n.2849A>T n.3057A>T | |
1 | g.197434760A>C | CA344043325 | CRB1 | c.2897A>C (p.Asn966Thr) c.1778A>C (p.Asn593Thr) c.1040A>C (p.Asn347Thr) c.2561A>C (p.Asn854Thr) c.2825A>C (p.Asn942Thr) c.2129-840A>C (n.2129-840A>C) n.2898A>C n.3106A>C c.2315A>C (p.Asn772Thr) c.1340A>C (p.Asn447Thr) c.2054A>C (p.Asn685Thr) c.3032A>C (p.Asn1011Thr) n.2850A>C n.3058A>C | |
1 | g.197434760A>G | CA344043326 | CRB1 | c.2897A>G (p.Asn966Ser) c.1778A>G (p.Asn593Ser) c.1040A>G (p.Asn347Ser) c.2561A>G (p.Asn854Ser) c.2825A>G (p.Asn942Ser) c.2129-840A>G (n.2129-840A>G) n.2898A>G n.3106A>G c.2315A>G (p.Asn772Ser) c.1340A>G (p.Asn447Ser) c.2054A>G (p.Asn685Ser) c.3032A>G (p.Asn1011Ser) n.2850A>G n.3058A>G | |
1 | g.197434760A>T | CA344043327 | CRB1 | c.2897A>T (p.Asn966Ile) c.1778A>T (p.Asn593Ile) c.1040A>T (p.Asn347Ile) c.2561A>T (p.Asn854Ile) c.2825A>T (p.Asn942Ile) c.2129-840A>T (n.2129-840A>T) n.2898A>T n.3106A>T c.2315A>T (p.Asn772Ile) c.1340A>T (p.Asn447Ile) c.2054A>T (p.Asn685Ile) c.3032A>T (p.Asn1011Ile) n.2850A>T n.3058A>T | |
1 | g.197434761T>A | CA344043331 | CRB1 | c.2898T>A (p.Asn966Lys) c.1779T>A (p.Asn593Lys) c.1041T>A (p.Asn347Lys) c.2562T>A (p.Asn854Lys) c.2826T>A (p.Asn942Lys) c.2129-839T>A (n.2129-839T>A) n.2899T>A n.3107T>A c.2316T>A (p.Asn772Lys) c.1341T>A (p.Asn447Lys) c.2055T>A (p.Asn685Lys) c.3033T>A (p.Asn1011Lys) n.2851T>A n.3059T>A | |
1 | g.197434761T>C | CA422672529 | CRB1 | c.2898T>C (p.Asn966=) c.1779T>C (p.Asn593=) c.1041T>C (p.Asn347=) c.2562T>C (p.Asn854=) c.2826T>C (p.Asn942=) c.2129-839T>C (n.2129-839T>C) n.2899T>C n.3107T>C c.2316T>C (p.Asn772=) c.1341T>C (p.Asn447=) c.2055T>C (p.Asn685=) c.3033T>C (p.Asn1011=) n.2851T>C n.3059T>C | ClinVar dbSNP |
1 | g.197434761T>G | CA344043334 | CRB1 | c.2898T>G (p.Asn966Lys) c.1779T>G (p.Asn593Lys) c.1041T>G (p.Asn347Lys) c.2562T>G (p.Asn854Lys) c.2826T>G (p.Asn942Lys) c.2129-839T>G (n.2129-839T>G) n.2899T>G n.3107T>G c.2316T>G (p.Asn772Lys) c.1341T>G (p.Asn447Lys) c.2055T>G (p.Asn685Lys) c.3033T>G (p.Asn1011Lys) n.2851T>G n.3059T>G | |
1 | g.197434762G>A | CA344043355 | CRB1 | c.2899G>A (p.Gly967Arg) c.1780G>A (p.Gly594Arg) c.1042G>A (p.Gly348Arg) c.2563G>A (p.Gly855Arg) c.2827G>A (p.Gly943Arg) c.2129-838G>A (n.2129-838G>A) n.2900G>A n.3108G>A c.2317G>A (p.Gly773Arg) c.1342G>A (p.Gly448Arg) c.2056G>A (p.Gly686Arg) c.3034G>A (p.Gly1012Arg) n.2852G>A n.3060G>A | gnomAD v4 |
1 | g.197434762G>C | CA344043340 | CRB1 | c.2899G>C (p.Gly967Arg) c.1780G>C (p.Gly594Arg) c.1042G>C (p.Gly348Arg) c.2563G>C (p.Gly855Arg) c.2827G>C (p.Gly943Arg) c.2129-838G>C (n.2129-838G>C) n.2900G>C n.3108G>C c.2317G>C (p.Gly773Arg) c.1342G>C (p.Gly448Arg) c.2056G>C (p.Gly686Arg) c.3034G>C (p.Gly1012Arg) n.2852G>C n.3060G>C | |
1 | g.197434762G>T | CA344043337 | CRB1 | c.2899G>T (p.Gly967Trp) c.1780G>T (p.Gly594Trp) c.1042G>T (p.Gly348Trp) c.2563G>T (p.Gly855Trp) c.2827G>T (p.Gly943Trp) c.2129-838G>T (n.2129-838G>T) n.2900G>T n.3108G>T c.2317G>T (p.Gly773Trp) c.1342G>T (p.Gly448Trp) c.2056G>T (p.Gly686Trp) c.3034G>T (p.Gly1012Trp) n.2852G>T n.3060G>T | |
1 | g.197434763G>A | CA35906600 | CRB1 | c.2900G>A (p.Gly967Glu) c.1781G>A (p.Gly594Glu) c.1043G>A (p.Gly348Glu) c.2564G>A (p.Gly855Glu) c.2828G>A (p.Gly943Glu) c.2129-837G>A (n.2129-837G>A) n.2901G>A n.3109G>A c.2318G>A (p.Gly773Glu) c.1343G>A (p.Gly448Glu) c.2057G>A (p.Gly686Glu) c.3035G>A (p.Gly1012Glu) n.2853G>A n.3061G>A | dbSNP COSMIC COSMIC |
1 | g.197434763G>C | CA344043366 | CRB1 | c.2900G>C (p.Gly967Ala) c.1781G>C (p.Gly594Ala) c.1043G>C (p.Gly348Ala) c.2564G>C (p.Gly855Ala) c.2828G>C (p.Gly943Ala) c.2129-837G>C (n.2129-837G>C) n.2901G>C n.3109G>C c.2318G>C (p.Gly773Ala) c.1343G>C (p.Gly448Ala) c.2057G>C (p.Gly686Ala) c.3035G>C (p.Gly1012Ala) n.2853G>C n.3061G>C | |
1 | g.197434763G= | CA1143537111 | CRB1 | c.2900G= (p.Gly967=) c.1781G= (p.Gly594=) c.1043G= (p.Gly348=) c.2564G= (p.Gly855=) c.2828G= (p.Gly943=) c.2129-837G= (n.2129-837G=) n.2901G= n.3109G= c.2318G= (p.Gly773=) c.1343G= (p.Gly448=) c.2057G= (p.Gly686=) c.3035G= (p.Gly1012=) n.2853G= n.3061G= | |
1 | g.197434763G>T | CA344043363 | CRB1 | c.2900G>T (p.Gly967Val) c.1781G>T (p.Gly594Val) c.1043G>T (p.Gly348Val) c.2564G>T (p.Gly855Val) c.2828G>T (p.Gly943Val) c.2129-837G>T (n.2129-837G>T) n.2901G>T n.3109G>T c.2318G>T (p.Gly773Val) c.1343G>T (p.Gly448Val) c.2057G>T (p.Gly686Val) c.3035G>T (p.Gly1012Val) n.2853G>T n.3061G>T | gnomAD v4 |
1 | g.197434764G>A | CA422672530 | CRB1 | c.2901G>A (p.Gly967=) c.1782G>A (p.Gly594=) c.1044G>A (p.Gly348=) c.2565G>A (p.Gly855=) c.2829G>A (p.Gly943=) c.2129-836G>A (n.2129-836G>A) n.2902G>A n.3110G>A c.2319G>A (p.Gly773=) c.1344G>A (p.Gly448=) c.2058G>A (p.Gly686=) c.3036G>A (p.Gly1012=) n.2854G>A n.3062G>A | ClinVar dbSNP gnomAD v4 |
1 | g.197434764G>C | CA422672531 | CRB1 | c.2901G>C (p.Gly967=) c.1782G>C (p.Gly594=) c.1044G>C (p.Gly348=) c.2565G>C (p.Gly855=) c.2829G>C (p.Gly943=) c.2129-836G>C (n.2129-836G>C) n.2902G>C n.3110G>C c.2319G>C (p.Gly773=) c.1344G>C (p.Gly448=) c.2058G>C (p.Gly686=) c.3036G>C (p.Gly1012=) n.2854G>C n.3062G>C | ClinVar dbSNP |
1 | g.197434764G= | CA1218068657 | CRB1 | c.2901G= (p.Gly967=) c.1782G= (p.Gly594=) c.1044G= (p.Gly348=) c.2565G= (p.Gly855=) c.2829G= (p.Gly943=) c.2129-836G= (n.2129-836G=) n.2902G= n.3110G= c.2319G= (p.Gly773=) c.1344G= (p.Gly448=) c.2058G= (p.Gly686=) c.3036G= (p.Gly1012=) n.2854G= n.3062G= | |
1 | g.197434764G>T | CA1312243 | CRB1 | c.2901G>T (p.Gly967=) c.1782G>T (p.Gly594=) c.1044G>T (p.Gly348=) c.2565G>T (p.Gly855=) c.2829G>T (p.Gly943=) c.2129-836G>T (n.2129-836G>T) n.2902G>T n.3110G>T c.2319G>T (p.Gly773=) c.1344G>T (p.Gly448=) c.2058G>T (p.Gly686=) c.3036G>T (p.Gly1012=) n.2854G>T n.3062G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434767_197434779del | CA2606719373 | CRB1 | c.2904_2916del (p.Ile969SerfsTer15) c.1785_1797del (p.Ile596SerfsTer15) c.1047_1059del (p.Ile350SerfsTer15) c.2568_2580del (p.Ile857SerfsTer15) c.2832_2844del (p.Ile945SerfsTer15) c.2129-833_2129-821del (n.2129-833_2129-821del) n.2905_2917del n.3113_3125del c.2322_2334del (p.Ile775SerfsTer15) c.1347_1359del (p.Ile450SerfsTer15) c.2061_2073del (p.Ile688SerfsTer15) c.3039_3051del (p.Ile1014SerfsTer15) n.2857_2869del n.3065_3077del | gnomAD v3 gnomAD v4 |
1 | g.197434765A>C | CA344043386 | CRB1 | c.2902A>C (p.Asn968His) c.1783A>C (p.Asn595His) c.1045A>C (p.Asn349His) c.2566A>C (p.Asn856His) c.2830A>C (p.Asn944His) c.2129-835A>C (n.2129-835A>C) n.2903A>C n.3111A>C c.2320A>C (p.Asn774His) c.1345A>C (p.Asn449His) c.2059A>C (p.Asn687His) c.3037A>C (p.Asn1013His) n.2855A>C n.3063A>C | |
1 | g.197434765A>G | CA344043379 | CRB1 | c.2902A>G (p.Asn968Asp) c.1783A>G (p.Asn595Asp) c.1045A>G (p.Asn349Asp) c.2566A>G (p.Asn856Asp) c.2830A>G (p.Asn944Asp) c.2129-835A>G (n.2129-835A>G) n.2903A>G n.3111A>G c.2320A>G (p.Asn774Asp) c.1345A>G (p.Asn449Asp) c.2059A>G (p.Asn687Asp) c.3037A>G (p.Asn1013Asp) n.2855A>G n.3063A>G | |
1 | g.197434765A>T | CA344043388 | CRB1 | c.2902A>T (p.Asn968Tyr) c.1783A>T (p.Asn595Tyr) c.1045A>T (p.Asn349Tyr) c.2566A>T (p.Asn856Tyr) c.2830A>T (p.Asn944Tyr) c.2129-835A>T (n.2129-835A>T) n.2903A>T n.3111A>T c.2320A>T (p.Asn774Tyr) c.1345A>T (p.Asn449Tyr) c.2059A>T (p.Asn687Tyr) c.3037A>T (p.Asn1013Tyr) n.2855A>T n.3063A>T | |
1 | g.197434766A= | CA1218068658 | CRB1 | c.2903A= (p.Asn968=) c.1784A= (p.Asn595=) c.1046A= (p.Asn349=) c.2567A= (p.Asn856=) c.2831A= (p.Asn944=) c.2129-834A= (n.2129-834A=) n.2904A= n.3112A= c.2321A= (p.Asn774=) c.1346A= (p.Asn449=) c.2060A= (p.Asn687=) c.3038A= (p.Asn1013=) n.2856A= n.3064A= | |
1 | g.197434766A>C | CA344043394 | CRB1 | c.2903A>C (p.Asn968Thr) c.1784A>C (p.Asn595Thr) c.1046A>C (p.Asn349Thr) c.2567A>C (p.Asn856Thr) c.2831A>C (p.Asn944Thr) c.2129-834A>C (n.2129-834A>C) n.2904A>C n.3112A>C c.2321A>C (p.Asn774Thr) c.1346A>C (p.Asn449Thr) c.2060A>C (p.Asn687Thr) c.3038A>C (p.Asn1013Thr) n.2856A>C n.3064A>C | dbSNP |
1 | g.197434766A>G | CA344043396 | CRB1 | c.2903A>G (p.Asn968Ser) c.1784A>G (p.Asn595Ser) c.1046A>G (p.Asn349Ser) c.2567A>G (p.Asn856Ser) c.2831A>G (p.Asn944Ser) c.2129-834A>G (n.2129-834A>G) n.2904A>G n.3112A>G c.2321A>G (p.Asn774Ser) c.1346A>G (p.Asn449Ser) c.2060A>G (p.Asn687Ser) c.3038A>G (p.Asn1013Ser) n.2856A>G n.3064A>G | |
1 | g.197434766A>T | CA344043399 | CRB1 | c.2903A>T (p.Asn968Ile) c.1784A>T (p.Asn595Ile) c.1046A>T (p.Asn349Ile) c.2567A>T (p.Asn856Ile) c.2831A>T (p.Asn944Ile) c.2129-834A>T (n.2129-834A>T) n.2904A>T n.3112A>T c.2321A>T (p.Asn774Ile) c.1346A>T (p.Asn449Ile) c.2060A>T (p.Asn687Ile) c.3038A>T (p.Asn1013Ile) n.2856A>T n.3064A>T | gnomAD v4 |
1 | g.197434767T>A | CA344043402 | CRB1 | c.2904T>A (p.Asn968Lys) c.1785T>A (p.Asn595Lys) c.1047T>A (p.Asn349Lys) c.2568T>A (p.Asn856Lys) c.2832T>A (p.Asn944Lys) c.2129-833T>A (n.2129-833T>A) n.2905T>A n.3113T>A c.2322T>A (p.Asn774Lys) c.1347T>A (p.Asn449Lys) c.2061T>A (p.Asn687Lys) c.3039T>A (p.Asn1013Lys) n.2857T>A n.3065T>A | |
1 | g.197434767T>C | CA422672532 | CRB1 | c.2904T>C (p.Asn968=) c.1785T>C (p.Asn595=) c.1047T>C (p.Asn349=) c.2568T>C (p.Asn856=) c.2832T>C (p.Asn944=) c.2129-833T>C (n.2129-833T>C) n.2905T>C n.3113T>C c.2322T>C (p.Asn774=) c.1347T>C (p.Asn449=) c.2061T>C (p.Asn687=) c.3039T>C (p.Asn1013=) n.2857T>C n.3065T>C | |
1 | g.197434767T>G | CA344043406 | CRB1 | c.2904T>G (p.Asn968Lys) c.1785T>G (p.Asn595Lys) c.1047T>G (p.Asn349Lys) c.2568T>G (p.Asn856Lys) c.2832T>G (p.Asn944Lys) c.2129-833T>G (n.2129-833T>G) n.2905T>G n.3113T>G c.2322T>G (p.Asn774Lys) c.1347T>G (p.Asn449Lys) c.2061T>G (p.Asn687Lys) c.3039T>G (p.Asn1013Lys) n.2857T>G n.3065T>G | |
1 | g.197434767dup | CA2740090446 | CRB1 | c.2904dup (p.Ile969TyrfsTer29) c.1785dup (p.Ile596TyrfsTer29) c.1047dup (p.Ile350TyrfsTer29) c.2568dup (p.Ile857TyrfsTer29) c.2832dup (p.Ile945TyrfsTer29) c.2129-833dup (n.2129-833dup) n.2905dup n.3113dup c.2322dup (p.Ile775TyrfsTer29) c.1347dup (p.Ile450TyrfsTer29) c.2061dup (p.Ile688TyrfsTer29) c.3039dup (p.Ile1014TyrfsTer29) n.2857dup n.3065dup | ClinVar |
1 | g.197434768A>C | CA344043408 | CRB1 | c.2905A>C (p.Ile969Leu) c.1786A>C (p.Ile596Leu) c.1048A>C (p.Ile350Leu) c.2569A>C (p.Ile857Leu) c.2833A>C (p.Ile945Leu) c.2129-832A>C (n.2129-832A>C) n.2906A>C n.3114A>C c.2323A>C (p.Ile775Leu) c.1348A>C (p.Ile450Leu) c.2062A>C (p.Ile688Leu) c.3040A>C (p.Ile1014Leu) n.2858A>C n.3066A>C | |
1 | g.197434768A>G | CA344043413 | CRB1 | c.2905A>G (p.Ile969Val) c.1786A>G (p.Ile596Val) c.1048A>G (p.Ile350Val) c.2569A>G (p.Ile857Val) c.2833A>G (p.Ile945Val) c.2129-832A>G (n.2129-832A>G) n.2906A>G n.3114A>G c.2323A>G (p.Ile775Val) c.1348A>G (p.Ile450Val) c.2062A>G (p.Ile688Val) c.3040A>G (p.Ile1014Val) n.2858A>G n.3066A>G | |
1 | g.197434768A>T | CA344043420 | CRB1 | c.2905A>T (p.Ile969Phe) c.1786A>T (p.Ile596Phe) c.1048A>T (p.Ile350Phe) c.2569A>T (p.Ile857Phe) c.2833A>T (p.Ile945Phe) c.2129-832A>T (n.2129-832A>T) n.2906A>T n.3114A>T c.2323A>T (p.Ile775Phe) c.1348A>T (p.Ile450Phe) c.2062A>T (p.Ile688Phe) c.3040A>T (p.Ile1014Phe) n.2858A>T n.3066A>T | gnomAD v4 |
1 | g.197434769T>A | CA344043423 | CRB1 | c.2906T>A (p.Ile969Asn) c.1787T>A (p.Ile596Asn) c.1049T>A (p.Ile350Asn) c.2570T>A (p.Ile857Asn) c.2834T>A (p.Ile945Asn) c.2129-831T>A (n.2129-831T>A) n.2907T>A n.3115T>A c.2324T>A (p.Ile775Asn) c.1349T>A (p.Ile450Asn) c.2063T>A (p.Ile688Asn) c.3041T>A (p.Ile1014Asn) n.2859T>A n.3067T>A | |
1 | g.197434769T>C | CA344043425 | CRB1 | c.2906T>C (p.Ile969Thr) c.1787T>C (p.Ile596Thr) c.1049T>C (p.Ile350Thr) c.2570T>C (p.Ile857Thr) c.2834T>C (p.Ile945Thr) c.2129-831T>C (n.2129-831T>C) n.2907T>C n.3115T>C c.2324T>C (p.Ile775Thr) c.1349T>C (p.Ile450Thr) c.2063T>C (p.Ile688Thr) c.3041T>C (p.Ile1014Thr) n.2859T>C n.3067T>C | |
1 | g.197434769T>G | CA344043428 | CRB1 | c.2906T>G (p.Ile969Ser) c.1787T>G (p.Ile596Ser) c.1049T>G (p.Ile350Ser) c.2570T>G (p.Ile857Ser) c.2834T>G (p.Ile945Ser) c.2129-831T>G (n.2129-831T>G) n.2907T>G n.3115T>G c.2324T>G (p.Ile775Ser) c.1349T>G (p.Ile450Ser) c.2063T>G (p.Ile688Ser) c.3041T>G (p.Ile1014Ser) n.2859T>G n.3067T>G | |
1 | g.197434770dup | CA2649670637 | CRB1 | c.2907dup (p.Thr970TyrfsTer28) c.1788dup (p.Thr597TyrfsTer28) c.1050dup (p.Thr351TyrfsTer28) c.2571dup (p.Thr858TyrfsTer28) c.2835dup (p.Thr946TyrfsTer28) c.2129-830dup (n.2129-830dup) n.2908dup n.3116dup c.2325dup (p.Thr776TyrfsTer28) c.1350dup (p.Thr451TyrfsTer28) c.2064dup (p.Thr689TyrfsTer28) c.3042dup (p.Thr1015TyrfsTer28) n.2860dup n.3068dup | gnomAD v4 |
1 | g.197434770T>A | CA422672533 | CRB1 | c.2907T>A (p.Ile969=) c.1788T>A (p.Ile596=) c.1050T>A (p.Ile350=) c.2571T>A (p.Ile857=) c.2835T>A (p.Ile945=) c.2129-830T>A (n.2129-830T>A) n.2908T>A n.3116T>A c.2325T>A (p.Ile775=) c.1350T>A (p.Ile450=) c.2064T>A (p.Ile688=) c.3042T>A (p.Ile1014=) n.2860T>A n.3068T>A | |
1 | g.197434770T>C | CA422672534 | CRB1 | c.2907T>C (p.Ile969=) c.1788T>C (p.Ile596=) c.1050T>C (p.Ile350=) c.2571T>C (p.Ile857=) c.2835T>C (p.Ile945=) c.2129-830T>C (n.2129-830T>C) n.2908T>C n.3116T>C c.2325T>C (p.Ile775=) c.1350T>C (p.Ile450=) c.2064T>C (p.Ile688=) c.3042T>C (p.Ile1014=) n.2860T>C n.3068T>C | ClinVar |
1 | g.197434770T>G | CA344043432 | CRB1 | c.2907T>G (p.Ile969Met) c.1788T>G (p.Ile596Met) c.1050T>G (p.Ile350Met) c.2571T>G (p.Ile857Met) c.2835T>G (p.Ile945Met) c.2129-830T>G (n.2129-830T>G) n.2908T>G n.3116T>G c.2325T>G (p.Ile775Met) c.1350T>G (p.Ile450Met) c.2064T>G (p.Ile688Met) c.3042T>G (p.Ile1014Met) n.2860T>G n.3068T>G | |
1 | g.197434771A= | CA1218068659 | CRB1 | c.2908A= (p.Thr970=) c.1789A= (p.Thr597=) c.1051A= (p.Thr351=) c.2572A= (p.Thr858=) c.2836A= (p.Thr946=) c.2129-829A= (n.2129-829A=) n.2909A= n.3117A= c.2326A= (p.Thr776=) c.1351A= (p.Thr451=) c.2065A= (p.Thr689=) c.3043A= (p.Thr1015=) n.2861A= n.3069A= | |
1 | g.197434771A>C | CA1312244 | CRB1 | c.2908A>C (p.Thr970Pro) c.1789A>C (p.Thr597Pro) c.1051A>C (p.Thr351Pro) c.2572A>C (p.Thr858Pro) c.2836A>C (p.Thr946Pro) c.2129-829A>C (n.2129-829A>C) n.2909A>C n.3117A>C c.2326A>C (p.Thr776Pro) c.1351A>C (p.Thr451Pro) c.2065A>C (p.Thr689Pro) c.3043A>C (p.Thr1015Pro) n.2861A>C n.3069A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197434771A>G | CA344043441 | CRB1 | c.2908A>G (p.Thr970Ala) c.1789A>G (p.Thr597Ala) c.1051A>G (p.Thr351Ala) c.2572A>G (p.Thr858Ala) c.2836A>G (p.Thr946Ala) c.2129-829A>G (n.2129-829A>G) n.2909A>G n.3117A>G c.2326A>G (p.Thr776Ala) c.1351A>G (p.Thr451Ala) c.2065A>G (p.Thr689Ala) c.3043A>G (p.Thr1015Ala) n.2861A>G n.3069A>G | COSMIC COSMIC |
1 | g.197434771A>T | CA344043439 | CRB1 | c.2908A>T (p.Thr970Ser) c.1789A>T (p.Thr597Ser) c.1051A>T (p.Thr351Ser) c.2572A>T (p.Thr858Ser) c.2836A>T (p.Thr946Ser) c.2129-829A>T (n.2129-829A>T) n.2909A>T n.3117A>T c.2326A>T (p.Thr776Ser) c.1351A>T (p.Thr451Ser) c.2065A>T (p.Thr689Ser) c.3043A>T (p.Thr1015Ser) n.2861A>T n.3069A>T | |
1 | g.197434772C>A | CA344043443 | CRB1 | c.2909C>A (p.Thr970Asn) c.1790C>A (p.Thr597Asn) c.1052C>A (p.Thr351Asn) c.2573C>A (p.Thr858Asn) c.2837C>A (p.Thr946Asn) c.2129-828C>A (n.2129-828C>A) n.2910C>A n.3118C>A c.2327C>A (p.Thr776Asn) c.1352C>A (p.Thr451Asn) c.2066C>A (p.Thr689Asn) c.3044C>A (p.Thr1015Asn) n.2862C>A n.3070C>A | |
1 | g.197434772C= | CA1218068660 | CRB1 | c.2909C= (p.Thr970=) c.1790C= (p.Thr597=) c.1052C= (p.Thr351=) c.2573C= (p.Thr858=) c.2837C= (p.Thr946=) c.2129-828C= (n.2129-828C=) n.2910C= n.3118C= c.2327C= (p.Thr776=) c.1352C= (p.Thr451=) c.2066C= (p.Thr689=) c.3044C= (p.Thr1015=) n.2862C= n.3070C= | |
1 | g.197434772C>G | CA344043456 | CRB1 | c.2909C>G (p.Thr970Ser) c.1790C>G (p.Thr597Ser) c.1052C>G (p.Thr351Ser) c.2573C>G (p.Thr858Ser) c.2837C>G (p.Thr946Ser) c.2129-828C>G (n.2129-828C>G) n.2910C>G n.3118C>G c.2327C>G (p.Thr776Ser) c.1352C>G (p.Thr451Ser) c.2066C>G (p.Thr689Ser) c.3044C>G (p.Thr1015Ser) n.2862C>G n.3070C>G | |
1 | g.197434772C>T | CA1312245 | CRB1 | c.2909C>T (p.Thr970Ile) c.1790C>T (p.Thr597Ile) c.1052C>T (p.Thr351Ile) c.2573C>T (p.Thr858Ile) c.2837C>T (p.Thr946Ile) c.2129-828C>T (n.2129-828C>T) n.2910C>T n.3118C>T c.2327C>T (p.Thr776Ile) c.1352C>T (p.Thr451Ile) c.2066C>T (p.Thr689Ile) c.3044C>T (p.Thr1015Ile) n.2862C>T n.3070C>T | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.197434773C>A | CA422672535 | CRB1 | c.2910C>A (p.Thr970=) c.1791C>A (p.Thr597=) c.1053C>A (p.Thr351=) c.2574C>A (p.Thr858=) c.2838C>A (p.Thr946=) c.2129-827C>A (n.2129-827C>A) n.2911C>A n.3119C>A c.2328C>A (p.Thr776=) c.1353C>A (p.Thr451=) c.2067C>A (p.Thr689=) c.3045C>A (p.Thr1015=) n.2863C>A n.3071C>A | |
1 | g.197434773C>G | CA422672536 | CRB1 | c.2910C>G (p.Thr970=) c.1791C>G (p.Thr597=) c.1053C>G (p.Thr351=) c.2574C>G (p.Thr858=) c.2838C>G (p.Thr946=) c.2129-827C>G (n.2129-827C>G) n.2911C>G n.3119C>G c.2328C>G (p.Thr776=) c.1353C>G (p.Thr451=) c.2067C>G (p.Thr689=) c.3045C>G (p.Thr1015=) n.2863C>G n.3071C>G | |
1 | g.197434773C>T | CA422672537 | CRB1 | c.2910C>T (p.Thr970=) c.1791C>T (p.Thr597=) c.1053C>T (p.Thr351=) c.2574C>T (p.Thr858=) c.2838C>T (p.Thr946=) c.2129-827C>T (n.2129-827C>T) n.2911C>T n.3119C>T c.2328C>T (p.Thr776=) c.1353C>T (p.Thr451=) c.2067C>T (p.Thr689=) c.3045C>T (p.Thr1015=) n.2863C>T n.3071C>T | |
1 | g.197434774A>C | CA422672538 | CRB1 | c.2911A>C (p.Arg971=) c.1792A>C (p.Arg598=) c.1054A>C (p.Arg352=) c.2575A>C (p.Arg859=) c.2839A>C (p.Arg947=) c.2129-826A>C (n.2129-826A>C) n.2912A>C n.3120A>C c.2329A>C (p.Arg777=) c.1354A>C (p.Arg452=) c.2068A>C (p.Arg690=) c.3046A>C (p.Arg1016=) n.2864A>C n.3072A>C | |
1 | g.197434774A>G | CA344043463 | CRB1 | c.2911A>G (p.Arg971Gly) c.1792A>G (p.Arg598Gly) c.1054A>G (p.Arg352Gly) c.2575A>G (p.Arg859Gly) c.2839A>G (p.Arg947Gly) c.2129-826A>G (n.2129-826A>G) n.2912A>G n.3120A>G c.2329A>G (p.Arg777Gly) c.1354A>G (p.Arg452Gly) c.2068A>G (p.Arg690Gly) c.3046A>G (p.Arg1016Gly) n.2864A>G n.3072A>G | gnomAD v4 |
1 | g.197434774A>T | CA344043468 | CRB1 | c.2911A>T (p.Arg971Ter) c.1792A>T (p.Arg598Ter) c.1054A>T (p.Arg352Ter) c.2575A>T (p.Arg859Ter) c.2839A>T (p.Arg947Ter) c.2129-826A>T (n.2129-826A>T) n.2912A>T n.3120A>T c.2329A>T (p.Arg777Ter) c.1354A>T (p.Arg452Ter) c.2068A>T (p.Arg690Ter) c.3046A>T (p.Arg1016Ter) n.2864A>T n.3072A>T | |
1 | g.197434775G>A | CA344043472 | CRB1 | c.2912G>A (p.Arg971Lys) c.1793G>A (p.Arg598Lys) c.1055G>A (p.Arg352Lys) c.2576G>A (p.Arg859Lys) c.2840G>A (p.Arg947Lys) c.2129-825G>A (n.2129-825G>A) n.2913G>A n.3121G>A c.2330G>A (p.Arg777Lys) c.1355G>A (p.Arg452Lys) c.2069G>A (p.Arg690Lys) c.3047G>A (p.Arg1016Lys) n.2865G>A n.3073G>A | dbSNP |
1 | g.197434775G>C | CA344043473 | CRB1 | c.2912G>C (p.Arg971Thr) c.1793G>C (p.Arg598Thr) c.1055G>C (p.Arg352Thr) c.2576G>C (p.Arg859Thr) c.2840G>C (p.Arg947Thr) c.2129-825G>C (n.2129-825G>C) n.2913G>C n.3121G>C c.2330G>C (p.Arg777Thr) c.1355G>C (p.Arg452Thr) c.2069G>C (p.Arg690Thr) c.3047G>C (p.Arg1016Thr) n.2865G>C n.3073G>C | |
1 | g.197434775G= | CA1218068661 | CRB1 | c.2912G= (p.Arg971=) c.1793G= (p.Arg598=) c.1055G= (p.Arg352=) c.2576G= (p.Arg859=) c.2840G= (p.Arg947=) c.2129-825G= (n.2129-825G=) n.2913G= n.3121G= c.2330G= (p.Arg777=) c.1355G= (p.Arg452=) c.2069G= (p.Arg690=) c.3047G= (p.Arg1016=) n.2865G= n.3073G= | |
1 | g.197434775G>T | CA344043474 | CRB1 | c.2912G>T (p.Arg971Ile) c.1793G>T (p.Arg598Ile) c.1055G>T (p.Arg352Ile) c.2576G>T (p.Arg859Ile) c.2840G>T (p.Arg947Ile) c.2129-825G>T (n.2129-825G>T) n.2913G>T n.3121G>T c.2330G>T (p.Arg777Ile) c.1355G>T (p.Arg452Ile) c.2069G>T (p.Arg690Ile) c.3047G>T (p.Arg1016Ile) n.2865G>T n.3073G>T | |
1 | g.197434776A>C | CA344043475 | CRB1 | c.2913A>C (p.Arg971Ser) c.1794A>C (p.Arg598Ser) c.1056A>C (p.Arg352Ser) c.2577A>C (p.Arg859Ser) c.2841A>C (p.Arg947Ser) c.2129-824A>C (n.2129-824A>C) n.2914A>C n.3122A>C c.2331A>C (p.Arg777Ser) c.1356A>C (p.Arg452Ser) c.2070A>C (p.Arg690Ser) c.3048A>C (p.Arg1016Ser) n.2866A>C n.3074A>C | |
1 | g.197434776A>G | CA422672539 | CRB1 | c.2913A>G (p.Arg971=) c.1794A>G (p.Arg598=) c.1056A>G (p.Arg352=) c.2577A>G (p.Arg859=) c.2841A>G (p.Arg947=) c.2129-824A>G (n.2129-824A>G) n.2914A>G n.3122A>G c.2331A>G (p.Arg777=) c.1356A>G (p.Arg452=) c.2070A>G (p.Arg690=) c.3048A>G (p.Arg1016=) n.2866A>G n.3074A>G | |
1 | g.197434776A>T | CA344043476 | CRB1 | c.2913A>T (p.Arg971Ser) c.1794A>T (p.Arg598Ser) c.1056A>T (p.Arg352Ser) c.2577A>T (p.Arg859Ser) c.2841A>T (p.Arg947Ser) c.2129-824A>T (n.2129-824A>T) n.2914A>T n.3122A>T c.2331A>T (p.Arg777Ser) c.1356A>T (p.Arg452Ser) c.2070A>T (p.Arg690Ser) c.3048A>T (p.Arg1016Ser) n.2866A>T n.3074A>T | |
1 | g.197434777G>A | CA344043487 | CRB1 | c.2914G>A (p.Glu972Lys) c.1795G>A (p.Glu599Lys) c.1057G>A (p.Glu353Lys) c.2578G>A (p.Glu860Lys) c.2842G>A (p.Glu948Lys) c.2129-823G>A (n.2129-823G>A) n.2915G>A n.3123G>A c.2332G>A (p.Glu778Lys) c.1357G>A (p.Glu453Lys) c.2071G>A (p.Glu691Lys) c.3049G>A (p.Glu1017Lys) n.2867G>A n.3075G>A | |
1 | g.197434777G>C | CA344043489 | CRB1 | c.2914G>C (p.Glu972Gln) c.1795G>C (p.Glu599Gln) c.1057G>C (p.Glu353Gln) c.2578G>C (p.Glu860Gln) c.2842G>C (p.Glu948Gln) c.2129-823G>C (n.2129-823G>C) n.2915G>C n.3123G>C c.2332G>C (p.Glu778Gln) c.1357G>C (p.Glu453Gln) c.2071G>C (p.Glu691Gln) c.3049G>C (p.Glu1017Gln) n.2867G>C n.3075G>C | ClinVar dbSNP |
1 | g.197434777G= | CA1218068662 | CRB1 | c.2914G= (p.Glu972=) c.1795G= (p.Glu599=) c.1057G= (p.Glu353=) c.2578G= (p.Glu860=) c.2842G= (p.Glu948=) c.2129-823G= (n.2129-823G=) n.2915G= n.3123G= c.2332G= (p.Glu778=) c.1357G= (p.Glu453=) c.2071G= (p.Glu691=) c.3049G= (p.Glu1017=) n.2867G= n.3075G= | |
1 | g.197434777G>T | CA344043483 | CRB1 | c.2914G>T (p.Glu972Ter) c.1795G>T (p.Glu599Ter) c.1057G>T (p.Glu353Ter) c.2578G>T (p.Glu860Ter) c.2842G>T (p.Glu948Ter) c.2129-823G>T (n.2129-823G>T) n.2915G>T n.3123G>T c.2332G>T (p.Glu778Ter) c.1357G>T (p.Glu453Ter) c.2071G>T (p.Glu691Ter) c.3049G>T (p.Glu1017Ter) n.2867G>T n.3075G>T | ClinVar dbSNP COSMIC |
1 | g.197434778A>C | CA344043494 | CRB1 | c.2915A>C (p.Glu972Ala) c.1796A>C (p.Glu599Ala) c.1058A>C (p.Glu353Ala) c.2579A>C (p.Glu860Ala) c.2843A>C (p.Glu948Ala) c.2129-822A>C (n.2129-822A>C) n.2916A>C n.3124A>C c.2333A>C (p.Glu778Ala) c.1358A>C (p.Glu453Ala) c.2072A>C (p.Glu691Ala) c.3050A>C (p.Glu1017Ala) n.2868A>C n.3076A>C | |
1 | g.197434778A>G | CA344043499 | CRB1 | c.2915A>G (p.Glu972Gly) c.1796A>G (p.Glu599Gly) c.1058A>G (p.Glu353Gly) c.2579A>G (p.Glu860Gly) c.2843A>G (p.Glu948Gly) c.2129-822A>G (n.2129-822A>G) n.2916A>G n.3124A>G c.2333A>G (p.Glu778Gly) c.1358A>G (p.Glu453Gly) c.2072A>G (p.Glu691Gly) c.3050A>G (p.Glu1017Gly) n.2868A>G n.3076A>G | gnomAD v4 COSMIC |
1 | g.197434778A>T | CA344043501 | CRB1 | c.2915A>T (p.Glu972Val) c.1796A>T (p.Glu599Val) c.1058A>T (p.Glu353Val) c.2579A>T (p.Glu860Val) c.2843A>T (p.Glu948Val) c.2129-822A>T (n.2129-822A>T) n.2916A>T n.3124A>T c.2333A>T (p.Glu778Val) c.1358A>T (p.Glu453Val) c.2072A>T (p.Glu691Val) c.3050A>T (p.Glu1017Val) n.2868A>T n.3076A>T | |
1 | g.197434779A= | CA1218068663 | CRB1 | c.2916A= (p.Glu972=) c.1797A= (p.Glu599=) c.1059A= (p.Glu353=) c.2580A= (p.Glu860=) c.2844A= (p.Glu948=) c.2129-821A= (n.2129-821A=) n.2917A= n.3125A= c.2334A= (p.Glu778=) c.1359A= (p.Glu453=) c.2073A= (p.Glu691=) c.3051A= (p.Glu1017=) n.2869A= n.3077A= | |
1 | g.197434779A>C | CA344043504 | CRB1 | c.2916A>C (p.Glu972Asp) c.1797A>C (p.Glu599Asp) c.1059A>C (p.Glu353Asp) c.2580A>C (p.Glu860Asp) c.2844A>C (p.Glu948Asp) c.2129-821A>C (n.2129-821A>C) n.2917A>C n.3125A>C c.2334A>C (p.Glu778Asp) c.1359A>C (p.Glu453Asp) c.2073A>C (p.Glu691Asp) c.3051A>C (p.Glu1017Asp) n.2869A>C n.3077A>C | |
1 | g.197434779A>G | CA422672540 | CRB1 | c.2916A>G (p.Glu972=) c.1797A>G (p.Glu599=) c.1059A>G (p.Glu353=) c.2580A>G (p.Glu860=) c.2844A>G (p.Glu948=) c.2129-821A>G (n.2129-821A>G) n.2917A>G n.3125A>G c.2334A>G (p.Glu778=) c.1359A>G (p.Glu453=) c.2073A>G (p.Glu691=) c.3051A>G (p.Glu1017=) n.2869A>G n.3077A>G | dbSNP |
1 | g.197434779A>T | CA344043506 | CRB1 | c.2916A>T (p.Glu972Asp) c.1797A>T (p.Glu599Asp) c.1059A>T (p.Glu353Asp) c.2580A>T (p.Glu860Asp) c.2844A>T (p.Glu948Asp) c.2129-821A>T (n.2129-821A>T) n.2917A>T n.3125A>T c.2334A>T (p.Glu778Asp) c.1359A>T (p.Glu453Asp) c.2073A>T (p.Glu691Asp) c.3051A>T (p.Glu1017Asp) n.2869A>T n.3077A>T | |
1 | g.197434780C>A | CA344043510 | CRB1 | c.2917C>A (p.Leu973Ile) c.1798C>A (p.Leu600Ile) c.1060C>A (p.Leu354Ile) c.2581C>A (p.Leu861Ile) c.2845C>A (p.Leu949Ile) c.2129-820C>A (n.2129-820C>A) n.2918C>A n.3126C>A c.2335C>A (p.Leu779Ile) c.1360C>A (p.Leu454Ile) c.2074C>A (p.Leu692Ile) c.3052C>A (p.Leu1018Ile) n.2870C>A n.3078C>A | gnomAD v4 |
1 | g.197434780C= | CA1218068664 | CRB1 | c.2917C= (p.Leu973=) c.1798C= (p.Leu600=) c.1060C= (p.Leu354=) c.2581C= (p.Leu861=) c.2845C= (p.Leu949=) c.2129-820C= (n.2129-820C=) n.2918C= n.3126C= c.2335C= (p.Leu779=) c.1360C= (p.Leu454=) c.2074C= (p.Leu692=) c.3052C= (p.Leu1018=) n.2870C= n.3078C= | |
1 | g.197434780C>G | CA10608724 | CRB1 | c.2917C>G (p.Leu973Val) c.1798C>G (p.Leu600Val) c.1060C>G (p.Leu354Val) c.2581C>G (p.Leu861Val) c.2845C>G (p.Leu949Val) c.2129-820C>G (n.2129-820C>G) n.2918C>G n.3126C>G c.2335C>G (p.Leu779Val) c.1360C>G (p.Leu454Val) c.2074C>G (p.Leu692Val) c.3052C>G (p.Leu1018Val) n.2870C>G n.3078C>G | ClinVar dbSNP |
1 | g.197434780C>T | CA344043516 | CRB1 | c.2917C>T (p.Leu973Phe) c.1798C>T (p.Leu600Phe) c.1060C>T (p.Leu354Phe) c.2581C>T (p.Leu861Phe) c.2845C>T (p.Leu949Phe) c.2129-820C>T (n.2129-820C>T) n.2918C>T n.3126C>T c.2335C>T (p.Leu779Phe) c.1360C>T (p.Leu454Phe) c.2074C>T (p.Leu692Phe) c.3052C>T (p.Leu1018Phe) n.2870C>T n.3078C>T | |
1 | g.197434781T>A | CA344043521 | CRB1 | c.2918T>A (p.Leu973His) c.1799T>A (p.Leu600His) c.1061T>A (p.Leu354His) c.2582T>A (p.Leu861His) c.2846T>A (p.Leu949His) c.2129-819T>A (n.2129-819T>A) n.2919T>A n.3127T>A c.2336T>A (p.Leu779His) c.1361T>A (p.Leu454His) c.2075T>A (p.Leu692His) c.3053T>A (p.Leu1018His) n.2871T>A n.3079T>A | |
1 | g.197434781T>C | CA344043533 | CRB1 | c.2918T>C (p.Leu973Pro) c.1799T>C (p.Leu600Pro) c.1061T>C (p.Leu354Pro) c.2582T>C (p.Leu861Pro) c.2846T>C (p.Leu949Pro) c.2129-819T>C (n.2129-819T>C) n.2919T>C n.3127T>C c.2336T>C (p.Leu779Pro) c.1361T>C (p.Leu454Pro) c.2075T>C (p.Leu692Pro) c.3053T>C (p.Leu1018Pro) n.2871T>C n.3079T>C | |
1 | g.197434781T>G | CA344043534 | CRB1 | c.2918T>G (p.Leu973Arg) c.1799T>G (p.Leu600Arg) c.1061T>G (p.Leu354Arg) c.2582T>G (p.Leu861Arg) c.2846T>G (p.Leu949Arg) c.2129-819T>G (n.2129-819T>G) n.2919T>G n.3127T>G c.2336T>G (p.Leu779Arg) c.1361T>G (p.Leu454Arg) c.2075T>G (p.Leu692Arg) c.3053T>G (p.Leu1018Arg) n.2871T>G n.3079T>G | |
1 | g.197434782C>A | CA422672541 | CRB1 | c.2919C>A (p.Leu973=) c.1800C>A (p.Leu600=) c.1062C>A (p.Leu354=) c.2583C>A (p.Leu861=) c.2847C>A (p.Leu949=) c.2129-818C>A (n.2129-818C>A) n.2920C>A n.3128C>A c.2337C>A (p.Leu779=) c.1362C>A (p.Leu454=) c.2076C>A (p.Leu692=) c.3054C>A (p.Leu1018=) n.2872C>A n.3080C>A | gnomAD v4 |
1 | g.197434782C= | CA1218068665 | CRB1 | c.2919C= (p.Leu973=) c.1800C= (p.Leu600=) c.1062C= (p.Leu354=) c.2583C= (p.Leu861=) c.2847C= (p.Leu949=) c.2129-818C= (n.2129-818C=) n.2920C= n.3128C= c.2337C= (p.Leu779=) c.1362C= (p.Leu454=) c.2076C= (p.Leu692=) c.3054C= (p.Leu1018=) n.2872C= n.3080C= | |
1 | g.197434782C>G | CA422672542 | CRB1 | c.2919C>G (p.Leu973=) c.1800C>G (p.Leu600=) c.1062C>G (p.Leu354=) c.2583C>G (p.Leu861=) c.2847C>G (p.Leu949=) c.2129-818C>G (n.2129-818C>G) n.2920C>G n.3128C>G c.2337C>G (p.Leu779=) c.1362C>G (p.Leu454=) c.2076C>G (p.Leu692=) c.3054C>G (p.Leu1018=) n.2872C>G n.3080C>G | |
1 | g.197434782C>T | CA1312246 | CRB1 | c.2919C>T (p.Leu973=) c.1800C>T (p.Leu600=) c.1062C>T (p.Leu354=) c.2583C>T (p.Leu861=) c.2847C>T (p.Leu949=) c.2129-818C>T (n.2129-818C>T) n.2920C>T n.3128C>T c.2337C>T (p.Leu779=) c.1362C>T (p.Leu454=) c.2076C>T (p.Leu692=) c.3054C>T (p.Leu1018=) n.2872C>T n.3080C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434783A>C | CA344043547 | CRB1 | c.2920A>C (p.Thr974Pro) c.1801A>C (p.Thr601Pro) c.1063A>C (p.Thr355Pro) c.2584A>C (p.Thr862Pro) c.2848A>C (p.Thr950Pro) c.2129-817A>C (n.2129-817A>C) n.2921A>C n.3129A>C c.2338A>C (p.Thr780Pro) c.1363A>C (p.Thr455Pro) c.2077A>C (p.Thr693Pro) c.3055A>C (p.Thr1019Pro) n.2873A>C n.3081A>C | |
1 | g.197434783A>G | CA344043537 | CRB1 | c.2920A>G (p.Thr974Ala) c.1801A>G (p.Thr601Ala) c.1063A>G (p.Thr355Ala) c.2584A>G (p.Thr862Ala) c.2848A>G (p.Thr950Ala) c.2129-817A>G (n.2129-817A>G) n.2921A>G n.3129A>G c.2338A>G (p.Thr780Ala) c.1363A>G (p.Thr455Ala) c.2077A>G (p.Thr693Ala) c.3055A>G (p.Thr1019Ala) n.2873A>G n.3081A>G | |
1 | g.197434783A>T | CA344043544 | CRB1 | c.2920A>T (p.Thr974Ser) c.1801A>T (p.Thr601Ser) c.1063A>T (p.Thr355Ser) c.2584A>T (p.Thr862Ser) c.2848A>T (p.Thr950Ser) c.2129-817A>T (n.2129-817A>T) n.2921A>T n.3129A>T c.2338A>T (p.Thr780Ser) c.1363A>T (p.Thr455Ser) c.2077A>T (p.Thr693Ser) c.3055A>T (p.Thr1019Ser) n.2873A>T n.3081A>T | |
1 | g.197434784C>A | CA344043555 | CRB1 | c.2921C>A (p.Thr974Asn) c.1802C>A (p.Thr601Asn) c.1064C>A (p.Thr355Asn) c.2585C>A (p.Thr862Asn) c.2849C>A (p.Thr950Asn) c.2129-816C>A (n.2129-816C>A) n.2922C>A n.3130C>A c.2339C>A (p.Thr780Asn) c.1364C>A (p.Thr455Asn) c.2078C>A (p.Thr693Asn) c.3056C>A (p.Thr1019Asn) n.2874C>A n.3082C>A | COSMIC |
1 | g.197434784C= | CA1147900844 | CRB1 | c.2921C= (p.Thr974=) c.1802C= (p.Thr601=) c.1064C= (p.Thr355=) c.2585C= (p.Thr862=) c.2849C= (p.Thr950=) c.2129-816C= (n.2129-816C=) n.2922C= n.3130C= c.2339C= (p.Thr780=) c.1364C= (p.Thr455=) c.2078C= (p.Thr693=) c.3056C= (p.Thr1019=) n.2874C= n.3082C= | |
1 | g.197434784C>G | CA1312247 | CRB1 | c.2921C>G (p.Thr974Ser) c.1802C>G (p.Thr601Ser) c.1064C>G (p.Thr355Ser) c.2585C>G (p.Thr862Ser) c.2849C>G (p.Thr950Ser) c.2129-816C>G (n.2129-816C>G) n.2922C>G n.3130C>G c.2339C>G (p.Thr780Ser) c.1364C>G (p.Thr455Ser) c.2078C>G (p.Thr693Ser) c.3056C>G (p.Thr1019Ser) n.2874C>G n.3082C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.197434784C>T | CA1312248 | CRB1 | c.2921C>T (p.Thr974Ile) c.1802C>T (p.Thr601Ile) c.1064C>T (p.Thr355Ile) c.2585C>T (p.Thr862Ile) c.2849C>T (p.Thr950Ile) c.2129-816C>T (n.2129-816C>T) n.2922C>T n.3130C>T c.2339C>T (p.Thr780Ile) c.1364C>T (p.Thr455Ile) c.2078C>T (p.Thr693Ile) c.3056C>T (p.Thr1019Ile) n.2874C>T n.3082C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434785C>A | CA422672543 | CRB1 | c.2922C>A (p.Thr974=) c.1803C>A (p.Thr601=) c.1065C>A (p.Thr355=) c.2586C>A (p.Thr862=) c.2850C>A (p.Thr950=) c.2129-815C>A (n.2129-815C>A) n.2923C>A n.3131C>A c.2340C>A (p.Thr780=) c.1365C>A (p.Thr455=) c.2079C>A (p.Thr693=) c.3057C>A (p.Thr1019=) n.2875C>A n.3083C>A | |
1 | g.197434785C= | CA1148399697 | CRB1 | c.2922C= (p.Thr974=) c.1803C= (p.Thr601=) c.1065C= (p.Thr355=) c.2586C= (p.Thr862=) c.2850C= (p.Thr950=) c.2129-815C= (n.2129-815C=) n.2923C= n.3131C= c.2340C= (p.Thr780=) c.1365C= (p.Thr455=) c.2079C= (p.Thr693=) c.3057C= (p.Thr1019=) n.2875C= n.3083C= | |
1 | g.197434785C>G | CA1312249 | CRB1 | c.2922C>G (p.Thr974=) c.1803C>G (p.Thr601=) c.1065C>G (p.Thr355=) c.2586C>G (p.Thr862=) c.2850C>G (p.Thr950=) c.2129-815C>G (n.2129-815C>G) n.2923C>G n.3131C>G c.2340C>G (p.Thr780=) c.1365C>G (p.Thr455=) c.2079C>G (p.Thr693=) c.3057C>G (p.Thr1019=) n.2875C>G n.3083C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197434785C>T | CA422672544 | CRB1 | c.2922C>T (p.Thr974=) c.1803C>T (p.Thr601=) c.1065C>T (p.Thr355=) c.2586C>T (p.Thr862=) c.2850C>T (p.Thr950=) c.2129-815C>T (n.2129-815C>T) n.2923C>T n.3131C>T c.2340C>T (p.Thr780=) c.1365C>T (p.Thr455=) c.2079C>T (p.Thr693=) c.3057C>T (p.Thr1019=) n.2875C>T n.3083C>T | |
1 | g.197434786A>C | CA344043596 | CRB1 | c.2923A>C (p.Asn975His) c.1804A>C (p.Asn602His) c.1066A>C (p.Asn356His) c.2587A>C (p.Asn863His) c.2851A>C (p.Asn951His) c.2129-814A>C (n.2129-814A>C) n.2924A>C n.3132A>C c.2341A>C (p.Asn781His) c.1366A>C (p.Asn456His) c.2080A>C (p.Asn694His) c.3058A>C (p.Asn1020His) n.2876A>C n.3084A>C | |
1 | g.197434786A>G | CA344043598 | CRB1 | c.2923A>G (p.Asn975Asp) c.1804A>G (p.Asn602Asp) c.1066A>G (p.Asn356Asp) c.2587A>G (p.Asn863Asp) c.2851A>G (p.Asn951Asp) c.2129-814A>G (n.2129-814A>G) n.2924A>G n.3132A>G c.2341A>G (p.Asn781Asp) c.1366A>G (p.Asn456Asp) c.2080A>G (p.Asn694Asp) c.3058A>G (p.Asn1020Asp) n.2876A>G n.3084A>G | |
1 | g.197434786A>T | CA344043599 | CRB1 | c.2923A>T (p.Asn975Tyr) c.1804A>T (p.Asn602Tyr) c.1066A>T (p.Asn356Tyr) c.2587A>T (p.Asn863Tyr) c.2851A>T (p.Asn951Tyr) c.2129-814A>T (n.2129-814A>T) n.2924A>T n.3132A>T c.2341A>T (p.Asn781Tyr) c.1366A>T (p.Asn456Tyr) c.2080A>T (p.Asn694Tyr) c.3058A>T (p.Asn1020Tyr) n.2876A>T n.3084A>T | |
1 | g.197434787A>C | CA344043611 | CRB1 | c.2924A>C (p.Asn975Thr) c.1805A>C (p.Asn602Thr) c.1067A>C (p.Asn356Thr) c.2588A>C (p.Asn863Thr) c.2852A>C (p.Asn951Thr) c.2129-813A>C (n.2129-813A>C) n.2925A>C n.3133A>C c.2342A>C (p.Asn781Thr) c.1367A>C (p.Asn456Thr) c.2081A>C (p.Asn694Thr) c.3059A>C (p.Asn1020Thr) n.2877A>C n.3085A>C | |
1 | g.197434787A>G | CA344043612 | CRB1 | c.2924A>G (p.Asn975Ser) c.1805A>G (p.Asn602Ser) c.1067A>G (p.Asn356Ser) c.2588A>G (p.Asn863Ser) c.2852A>G (p.Asn951Ser) c.2129-813A>G (n.2129-813A>G) n.2925A>G n.3133A>G c.2342A>G (p.Asn781Ser) c.1367A>G (p.Asn456Ser) c.2081A>G (p.Asn694Ser) c.3059A>G (p.Asn1020Ser) n.2877A>G n.3085A>G | gnomAD v4 |
1 | g.197434787A>T | CA344043616 | CRB1 | c.2924A>T (p.Asn975Ile) c.1805A>T (p.Asn602Ile) c.1067A>T (p.Asn356Ile) c.2588A>T (p.Asn863Ile) c.2852A>T (p.Asn951Ile) c.2129-813A>T (n.2129-813A>T) n.2925A>T n.3133A>T c.2342A>T (p.Asn781Ile) c.1367A>T (p.Asn456Ile) c.2081A>T (p.Asn694Ile) c.3059A>T (p.Asn1020Ile) n.2877A>T n.3085A>T | |
1 | g.197434787_197434788insACACACC | CA2747248274 | CRB1 | c.2924_2925insACACACC (p.Asn975LysfsTer25) c.1805_1806insACACACC (p.Asn602LysfsTer25) c.1067_1068insACACACC (p.Asn356LysfsTer25) c.2588_2589insACACACC (p.Asn863LysfsTer25) c.2852_2853insACACACC (p.Asn951LysfsTer25) c.2129-813_2129-812insACACACC (n.2129-813_2129-812insACACACC) n.2925_2926insACACACC n.3133_3134insACACACC c.2342_2343insACACACC (p.Asn781LysfsTer25) c.1367_1368insACACACC (p.Asn456LysfsTer25) c.2081_2082insACACACC (p.Asn694LysfsTer25) c.3059_3060insACACACC (p.Asn1020LysfsTer25) n.2877_2878insACACACC n.3085_3086insACACACC | |
1 | g.197434788T>A | CA344043620 | CRB1 | c.2925T>A (p.Asn975Lys) c.1806T>A (p.Asn602Lys) c.1068T>A (p.Asn356Lys) c.2589T>A (p.Asn863Lys) c.2853T>A (p.Asn951Lys) c.2129-812T>A (n.2129-812T>A) n.2926T>A n.3134T>A c.2343T>A (p.Asn781Lys) c.1368T>A (p.Asn456Lys) c.2082T>A (p.Asn694Lys) c.3060T>A (p.Asn1020Lys) n.2878T>A n.3086T>A | |
1 | g.197434788T>C | CA422672545 | CRB1 | c.2925T>C (p.Asn975=) c.1806T>C (p.Asn602=) c.1068T>C (p.Asn356=) c.2589T>C (p.Asn863=) c.2853T>C (p.Asn951=) c.2129-812T>C (n.2129-812T>C) n.2926T>C n.3134T>C c.2343T>C (p.Asn781=) c.1368T>C (p.Asn456=) c.2082T>C (p.Asn694=) c.3060T>C (p.Asn1020=) n.2878T>C n.3086T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.197434788T>G | CA344043624 | CRB1 | c.2925T>G (p.Asn975Lys) c.1806T>G (p.Asn602Lys) c.1068T>G (p.Asn356Lys) c.2589T>G (p.Asn863Lys) c.2853T>G (p.Asn951Lys) c.2129-812T>G (n.2129-812T>G) n.2926T>G n.3134T>G c.2343T>G (p.Asn781Lys) c.1368T>G (p.Asn456Lys) c.2082T>G (p.Asn694Lys) c.3060T>G (p.Asn1020Lys) n.2878T>G n.3086T>G | |
1 | g.197434788T= | CA1218068666 | CRB1 | c.2925T= (p.Asn975=) c.1806T= (p.Asn602=) c.1068T= (p.Asn356=) c.2589T= (p.Asn863=) c.2853T= (p.Asn951=) c.2129-812T= (n.2129-812T=) n.2926T= n.3134T= c.2343T= (p.Asn781=) c.1368T= (p.Asn456=) c.2082T= (p.Asn694=) c.3060T= (p.Asn1020=) n.2878T= n.3086T= | |
1 | g.197434789A= | CA1218068667 | CRB1 | c.2926A= (p.Ile976=) c.1807A= (p.Ile603=) c.1069A= (p.Ile357=) c.2590A= (p.Ile864=) c.2854A= (p.Ile952=) c.2129-811A= (n.2129-811A=) n.2927A= n.3135A= c.2344A= (p.Ile782=) c.1369A= (p.Ile457=) c.2083A= (p.Ile695=) c.3061A= (p.Ile1021=) n.2879A= n.3087A= | |
1 | g.197434789A>C | CA344043650 | CRB1 | c.2926A>C (p.Ile976Leu) c.1807A>C (p.Ile603Leu) c.1069A>C (p.Ile357Leu) c.2590A>C (p.Ile864Leu) c.2854A>C (p.Ile952Leu) c.2129-811A>C (n.2129-811A>C) n.2927A>C n.3135A>C c.2344A>C (p.Ile782Leu) c.1369A>C (p.Ile457Leu) c.2083A>C (p.Ile695Leu) c.3061A>C (p.Ile1021Leu) n.2879A>C n.3087A>C | |
1 | g.197434789A>G | CA1312250 | CRB1 | c.2926A>G (p.Ile976Val) c.1807A>G (p.Ile603Val) c.1069A>G (p.Ile357Val) c.2590A>G (p.Ile864Val) c.2854A>G (p.Ile952Val) c.2129-811A>G (n.2129-811A>G) n.2927A>G n.3135A>G c.2344A>G (p.Ile782Val) c.1369A>G (p.Ile457Val) c.2083A>G (p.Ile695Val) c.3061A>G (p.Ile1021Val) n.2879A>G n.3087A>G | dbSNP ExAC gnomAD v2 |
1 | g.197434789A>T | CA344043630 | CRB1 | c.2926A>T (p.Ile976Phe) c.1807A>T (p.Ile603Phe) c.1069A>T (p.Ile357Phe) c.2590A>T (p.Ile864Phe) c.2854A>T (p.Ile952Phe) c.2129-811A>T (n.2129-811A>T) n.2927A>T n.3135A>T c.2344A>T (p.Ile782Phe) c.1369A>T (p.Ile457Phe) c.2083A>T (p.Ile695Phe) c.3061A>T (p.Ile1021Phe) n.2879A>T n.3087A>T | |
1 | g.197434790T>A | CA344043658 | CRB1 | c.2927T>A (p.Ile976Asn) c.1808T>A (p.Ile603Asn) c.1070T>A (p.Ile357Asn) c.2591T>A (p.Ile864Asn) c.2855T>A (p.Ile952Asn) c.2129-810T>A (n.2129-810T>A) n.2928T>A n.3136T>A c.2345T>A (p.Ile782Asn) c.1370T>A (p.Ile457Asn) c.2084T>A (p.Ile695Asn) c.3062T>A (p.Ile1021Asn) n.2880T>A n.3088T>A | |
1 | g.197434790T>C | CA344043666 | CRB1 | c.2927T>C (p.Ile976Thr) c.1808T>C (p.Ile603Thr) c.1070T>C (p.Ile357Thr) c.2591T>C (p.Ile864Thr) c.2855T>C (p.Ile952Thr) c.2129-810T>C (n.2129-810T>C) n.2928T>C n.3136T>C c.2345T>C (p.Ile782Thr) c.1370T>C (p.Ile457Thr) c.2084T>C (p.Ile695Thr) c.3062T>C (p.Ile1021Thr) n.2880T>C n.3088T>C | ClinVar dbSNP |
1 | g.197434790T>G | CA344043662 | CRB1 | c.2927T>G (p.Ile976Ser) c.1808T>G (p.Ile603Ser) c.1070T>G (p.Ile357Ser) c.2591T>G (p.Ile864Ser) c.2855T>G (p.Ile952Ser) c.2129-810T>G (n.2129-810T>G) n.2928T>G n.3136T>G c.2345T>G (p.Ile782Ser) c.1370T>G (p.Ile457Ser) c.2084T>G (p.Ile695Ser) c.3062T>G (p.Ile1021Ser) n.2880T>G n.3088T>G | |
1 | g.197434791C>A | CA422672546 | CRB1 | c.2928C>A (p.Ile976=) c.1809C>A (p.Ile603=) c.1071C>A (p.Ile357=) c.2592C>A (p.Ile864=) c.2856C>A (p.Ile952=) c.2129-809C>A (n.2129-809C>A) n.2929C>A n.3137C>A c.2346C>A (p.Ile782=) c.1371C>A (p.Ile457=) c.2085C>A (p.Ile695=) c.3063C>A (p.Ile1021=) n.2881C>A n.3089C>A | |
1 | g.197434791C>G | CA344043669 | CRB1 | c.2928C>G (p.Ile976Met) c.1809C>G (p.Ile603Met) c.1071C>G (p.Ile357Met) c.2592C>G (p.Ile864Met) c.2856C>G (p.Ile952Met) c.2129-809C>G (n.2129-809C>G) n.2929C>G n.3137C>G c.2346C>G (p.Ile782Met) c.1371C>G (p.Ile457Met) c.2085C>G (p.Ile695Met) c.3063C>G (p.Ile1021Met) n.2881C>G n.3089C>G | |
1 | g.197434791C>T | CA422672547 | CRB1 | c.2928C>T (p.Ile976=) c.1809C>T (p.Ile603=) c.1071C>T (p.Ile357=) c.2592C>T (p.Ile864=) c.2856C>T (p.Ile952=) c.2129-809C>T (n.2129-809C>T) n.2929C>T n.3137C>T c.2346C>T (p.Ile782=) c.1371C>T (p.Ile457=) c.2085C>T (p.Ile695=) c.3063C>T (p.Ile1021=) n.2881C>T n.3089C>T | gnomAD v4 |
1 | g.197434792A= | CA1218068668 | CRB1 | c.2929A= (p.Thr977=) c.1810A= (p.Thr604=) c.1072A= (p.Thr358=) c.2593A= (p.Thr865=) c.2857A= (p.Thr953=) c.2129-808A= (n.2129-808A=) n.2930A= n.3138A= c.2347A= (p.Thr783=) c.1372A= (p.Thr458=) c.2086A= (p.Thr696=) c.3064A= (p.Thr1022=) n.2882A= n.3090A= | |
1 | g.197434792A>C | CA344043672 | CRB1 | c.2929A>C (p.Thr977Pro) c.1810A>C (p.Thr604Pro) c.1072A>C (p.Thr358Pro) c.2593A>C (p.Thr865Pro) c.2857A>C (p.Thr953Pro) c.2129-808A>C (n.2129-808A>C) n.2930A>C n.3138A>C c.2347A>C (p.Thr783Pro) c.1372A>C (p.Thr458Pro) c.2086A>C (p.Thr696Pro) c.3064A>C (p.Thr1022Pro) n.2882A>C n.3090A>C | |
1 | g.197434792A>G | CA344043674 | CRB1 | c.2929A>G (p.Thr977Ala) c.1810A>G (p.Thr604Ala) c.1072A>G (p.Thr358Ala) c.2593A>G (p.Thr865Ala) c.2857A>G (p.Thr953Ala) c.2129-808A>G (n.2129-808A>G) n.2930A>G n.3138A>G c.2347A>G (p.Thr783Ala) c.1372A>G (p.Thr458Ala) c.2086A>G (p.Thr696Ala) c.3064A>G (p.Thr1022Ala) n.2882A>G n.3090A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197434792A>T | CA344043678 | CRB1 | c.2929A>T (p.Thr977Ser) c.1810A>T (p.Thr604Ser) c.1072A>T (p.Thr358Ser) c.2593A>T (p.Thr865Ser) c.2857A>T (p.Thr953Ser) c.2129-808A>T (n.2129-808A>T) n.2930A>T n.3138A>T c.2347A>T (p.Thr783Ser) c.1372A>T (p.Thr458Ser) c.2086A>T (p.Thr696Ser) c.3064A>T (p.Thr1022Ser) n.2882A>T n.3090A>T | |
1 | g.197434793C>A | CA344043681 | CRB1 | c.2930C>A (p.Thr977Lys) c.1811C>A (p.Thr604Lys) c.1073C>A (p.Thr358Lys) c.2594C>A (p.Thr865Lys) c.2858C>A (p.Thr953Lys) c.2129-807C>A (n.2129-807C>A) n.2931C>A n.3139C>A c.2348C>A (p.Thr783Lys) c.1373C>A (p.Thr458Lys) c.2087C>A (p.Thr696Lys) c.3065C>A (p.Thr1022Lys) n.2883C>A n.3091C>A | ClinVar dbSNP gnomAD v4 |
1 | g.197434793C= | CA1218068669 | CRB1 | c.2930C= (p.Thr977=) c.1811C= (p.Thr604=) c.1073C= (p.Thr358=) c.2594C= (p.Thr865=) c.2858C= (p.Thr953=) c.2129-807C= (n.2129-807C=) n.2931C= n.3139C= c.2348C= (p.Thr783=) c.1373C= (p.Thr458=) c.2087C= (p.Thr696=) c.3065C= (p.Thr1022=) n.2883C= n.3091C= | |
1 | g.197434793C>G | CA344043685 | CRB1 | c.2930C>G (p.Thr977Arg) c.1811C>G (p.Thr604Arg) c.1073C>G (p.Thr358Arg) c.2594C>G (p.Thr865Arg) c.2858C>G (p.Thr953Arg) c.2129-807C>G (n.2129-807C>G) n.2931C>G n.3139C>G c.2348C>G (p.Thr783Arg) c.1373C>G (p.Thr458Arg) c.2087C>G (p.Thr696Arg) c.3065C>G (p.Thr1022Arg) n.2883C>G n.3091C>G | |
1 | g.197434793C>T | CA344043687 | CRB1 | c.2930C>T (p.Thr977Ile) c.1811C>T (p.Thr604Ile) c.1073C>T (p.Thr358Ile) c.2594C>T (p.Thr865Ile) c.2858C>T (p.Thr953Ile) c.2129-807C>T (n.2129-807C>T) n.2931C>T n.3139C>T c.2348C>T (p.Thr783Ile) c.1373C>T (p.Thr458Ile) c.2087C>T (p.Thr696Ile) c.3065C>T (p.Thr1022Ile) n.2883C>T n.3091C>T | |
1 | g.197434794A= | CA1218068670 | CRB1 | c.2931A= (p.Thr977=) c.1812A= (p.Thr604=) c.1074A= (p.Thr358=) c.2595A= (p.Thr865=) c.2859A= (p.Thr953=) c.2129-806A= (n.2129-806A=) n.2932A= n.3140A= c.2349A= (p.Thr783=) c.1374A= (p.Thr458=) c.2088A= (p.Thr696=) c.3066A= (p.Thr1022=) n.2884A= n.3092A= | |
1 | g.197434794A>C | CA422672548 | CRB1 | c.2931A>C (p.Thr977=) c.1812A>C (p.Thr604=) c.1074A>C (p.Thr358=) c.2595A>C (p.Thr865=) c.2859A>C (p.Thr953=) c.2129-806A>C (n.2129-806A>C) n.2932A>C n.3140A>C c.2349A>C (p.Thr783=) c.1374A>C (p.Thr458=) c.2088A>C (p.Thr696=) c.3066A>C (p.Thr1022=) n.2884A>C n.3092A>C | |
1 | g.197434794A>G | CA1312251 | CRB1 | c.2931A>G (p.Thr977=) c.1812A>G (p.Thr604=) c.1074A>G (p.Thr358=) c.2595A>G (p.Thr865=) c.2859A>G (p.Thr953=) c.2129-806A>G (n.2129-806A>G) n.2932A>G n.3140A>G c.2349A>G (p.Thr783=) c.1374A>G (p.Thr458=) c.2088A>G (p.Thr696=) c.3066A>G (p.Thr1022=) n.2884A>G n.3092A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197434794A>T | CA422672549 | CRB1 | c.2931A>T (p.Thr977=) c.1812A>T (p.Thr604=) c.1074A>T (p.Thr358=) c.2595A>T (p.Thr865=) c.2859A>T (p.Thr953=) c.2129-806A>T (n.2129-806A>T) n.2932A>T n.3140A>T c.2349A>T (p.Thr783=) c.1374A>T (p.Thr458=) c.2088A>T (p.Thr696=) c.3066A>T (p.Thr1022=) n.2884A>T n.3092A>T | |
1 | g.197434795T>A | CA344043695 | CRB1 | c.2932T>A (p.Phe978Ile) c.1813T>A (p.Phe605Ile) c.1075T>A (p.Phe359Ile) c.2596T>A (p.Phe866Ile) c.2860T>A (p.Phe954Ile) c.2129-805T>A (n.2129-805T>A) n.2933T>A n.3141T>A c.2350T>A (p.Phe784Ile) c.1375T>A (p.Phe459Ile) c.2089T>A (p.Phe697Ile) c.3067T>A (p.Phe1023Ile) n.2885T>A n.3093T>A | |
1 | g.197434795T>C | CA344043698 | CRB1 | c.2932T>C (p.Phe978Leu) c.1813T>C (p.Phe605Leu) c.1075T>C (p.Phe359Leu) c.2596T>C (p.Phe866Leu) c.2860T>C (p.Phe954Leu) c.2129-805T>C (n.2129-805T>C) n.2933T>C n.3141T>C c.2350T>C (p.Phe784Leu) c.1375T>C (p.Phe459Leu) c.2089T>C (p.Phe697Leu) c.3067T>C (p.Phe1023Leu) n.2885T>C n.3093T>C | |
1 | g.197434795T>G | CA344043703 | CRB1 | c.2932T>G (p.Phe978Val) c.1813T>G (p.Phe605Val) c.1075T>G (p.Phe359Val) c.2596T>G (p.Phe866Val) c.2860T>G (p.Phe954Val) c.2129-805T>G (n.2129-805T>G) n.2933T>G n.3141T>G c.2350T>G (p.Phe784Val) c.1375T>G (p.Phe459Val) c.2089T>G (p.Phe697Val) c.3067T>G (p.Phe1023Val) n.2885T>G n.3093T>G | gnomAD v4 |
1 | g.197434796T>A | CA344043707 | CRB1 | c.2933T>A (p.Phe978Tyr) c.1814T>A (p.Phe605Tyr) c.1076T>A (p.Phe359Tyr) c.2597T>A (p.Phe866Tyr) c.2861T>A (p.Phe954Tyr) c.2129-804T>A (n.2129-804T>A) n.2934T>A n.3142T>A c.2351T>A (p.Phe784Tyr) c.1376T>A (p.Phe459Tyr) c.2090T>A (p.Phe697Tyr) c.3068T>A (p.Phe1023Tyr) n.2886T>A n.3094T>A | |
1 | g.197434796T>C | CA344043705 | CRB1 | c.2933T>C (p.Phe978Ser) c.1814T>C (p.Phe605Ser) c.1076T>C (p.Phe359Ser) c.2597T>C (p.Phe866Ser) c.2861T>C (p.Phe954Ser) c.2129-804T>C (n.2129-804T>C) n.2934T>C n.3142T>C c.2351T>C (p.Phe784Ser) c.1376T>C (p.Phe459Ser) c.2090T>C (p.Phe697Ser) c.3068T>C (p.Phe1023Ser) n.2886T>C n.3094T>C | |
1 | g.197434796T>G | CA344043704 | CRB1 | c.2933T>G (p.Phe978Cys) c.1814T>G (p.Phe605Cys) c.1076T>G (p.Phe359Cys) c.2597T>G (p.Phe866Cys) c.2861T>G (p.Phe954Cys) c.2129-804T>G (n.2129-804T>G) n.2934T>G n.3142T>G c.2351T>G (p.Phe784Cys) c.1376T>G (p.Phe459Cys) c.2090T>G (p.Phe697Cys) c.3068T>G (p.Phe1023Cys) n.2886T>G n.3094T>G | |
1 | g.197434797T>A | CA344043711 | CRB1 | c.2934T>A (p.Phe978Leu) c.1815T>A (p.Phe605Leu) c.1077T>A (p.Phe359Leu) c.2598T>A (p.Phe866Leu) c.2862T>A (p.Phe954Leu) c.2129-803T>A (n.2129-803T>A) n.2935T>A n.3143T>A c.2352T>A (p.Phe784Leu) c.1377T>A (p.Phe459Leu) c.2091T>A (p.Phe697Leu) c.3069T>A (p.Phe1023Leu) n.2887T>A n.3095T>A | |
1 | g.197434797T>C | CA422672550 | CRB1 | c.2934T>C (p.Phe978=) c.1815T>C (p.Phe605=) c.1077T>C (p.Phe359=) c.2598T>C (p.Phe866=) c.2862T>C (p.Phe954=) c.2129-803T>C (n.2129-803T>C) n.2935T>C n.3143T>C c.2352T>C (p.Phe784=) c.1377T>C (p.Phe459=) c.2091T>C (p.Phe697=) c.3069T>C (p.Phe1023=) n.2887T>C n.3095T>C | |
1 | g.197434797T>G | CA344043713 | CRB1 | c.2934T>G (p.Phe978Leu) c.1815T>G (p.Phe605Leu) c.1077T>G (p.Phe359Leu) c.2598T>G (p.Phe866Leu) c.2862T>G (p.Phe954Leu) c.2129-803T>G (n.2129-803T>G) n.2935T>G n.3143T>G c.2352T>G (p.Phe784Leu) c.1377T>G (p.Phe459Leu) c.2091T>G (p.Phe697Leu) c.3069T>G (p.Phe1023Leu) n.2887T>G n.3095T>G | |
1 | g.197434798G>A | CA344043724 | CRB1 | c.2935G>A (p.Gly979Ser) c.1816G>A (p.Gly606Ser) c.1078G>A (p.Gly360Ser) c.2599G>A (p.Gly867Ser) c.2863G>A (p.Gly955Ser) c.2129-802G>A (n.2129-802G>A) n.2936G>A n.3144G>A c.2353G>A (p.Gly785Ser) c.1378G>A (p.Gly460Ser) c.2092G>A (p.Gly698Ser) c.3070G>A (p.Gly1024Ser) n.2888G>A n.3096G>A | |
1 | g.197434798G>C | CA344043729 | CRB1 | c.2935G>C (p.Gly979Arg) c.1816G>C (p.Gly606Arg) c.1078G>C (p.Gly360Arg) c.2599G>C (p.Gly867Arg) c.2863G>C (p.Gly955Arg) c.2129-802G>C (n.2129-802G>C) n.2936G>C n.3144G>C c.2353G>C (p.Gly785Arg) c.1378G>C (p.Gly460Arg) c.2092G>C (p.Gly698Arg) c.3070G>C (p.Gly1024Arg) n.2888G>C n.3096G>C | |
1 | g.197434798G>T | CA344043734 | CRB1 | c.2935G>T (p.Gly979Cys) c.1816G>T (p.Gly606Cys) c.1078G>T (p.Gly360Cys) c.2599G>T (p.Gly867Cys) c.2863G>T (p.Gly955Cys) c.2129-802G>T (n.2129-802G>T) n.2936G>T n.3144G>T c.2353G>T (p.Gly785Cys) c.1378G>T (p.Gly460Cys) c.2092G>T (p.Gly698Cys) c.3070G>T (p.Gly1024Cys) n.2888G>T n.3096G>T | |
1 | g.197434799G>A | CA344043740 | CRB1 | c.2936G>A (p.Gly979Asp) c.1817G>A (p.Gly606Asp) c.1079G>A (p.Gly360Asp) c.2600G>A (p.Gly867Asp) c.2864G>A (p.Gly955Asp) c.2129-801G>A (n.2129-801G>A) n.2937G>A n.3145G>A c.2354G>A (p.Gly785Asp) c.1379G>A (p.Gly460Asp) c.2093G>A (p.Gly698Asp) c.3071G>A (p.Gly1024Asp) n.2889G>A n.3097G>A | |
1 | g.197434799G>C | CA344043743 | CRB1 | c.2936G>C (p.Gly979Ala) c.1817G>C (p.Gly606Ala) c.1079G>C (p.Gly360Ala) c.2600G>C (p.Gly867Ala) c.2864G>C (p.Gly955Ala) c.2129-801G>C (n.2129-801G>C) n.2937G>C n.3145G>C c.2354G>C (p.Gly785Ala) c.1379G>C (p.Gly460Ala) c.2093G>C (p.Gly698Ala) c.3071G>C (p.Gly1024Ala) n.2889G>C n.3097G>C | |
1 | g.197434799G>T | CA344043749 | CRB1 | c.2936G>T (p.Gly979Val) c.1817G>T (p.Gly606Val) c.1079G>T (p.Gly360Val) c.2600G>T (p.Gly867Val) c.2864G>T (p.Gly955Val) c.2129-801G>T (n.2129-801G>T) n.2937G>T n.3145G>T c.2354G>T (p.Gly785Val) c.1379G>T (p.Gly460Val) c.2093G>T (p.Gly698Val) c.3071G>T (p.Gly1024Val) n.2889G>T n.3097G>T | |
1 | g.197434800T>A | CA422672554 | CRB1 | c.2937T>A (p.Gly979=) c.1818T>A (p.Gly606=) c.1080T>A (p.Gly360=) c.2601T>A (p.Gly867=) c.2865T>A (p.Gly955=) c.2129-800T>A (n.2129-800T>A) n.2938T>A n.3146T>A c.2355T>A (p.Gly785=) c.1380T>A (p.Gly460=) c.2094T>A (p.Gly698=) c.3072T>A (p.Gly1024=) n.2890T>A n.3098T>A | |
1 | g.197434800T>C | CA422672553 | CRB1 | c.2937T>C (p.Gly979=) c.1818T>C (p.Gly606=) c.1080T>C (p.Gly360=) c.2601T>C (p.Gly867=) c.2865T>C (p.Gly955=) c.2129-800T>C (n.2129-800T>C) n.2938T>C n.3146T>C c.2355T>C (p.Gly785=) c.1380T>C (p.Gly460=) c.2094T>C (p.Gly698=) c.3072T>C (p.Gly1024=) n.2890T>C n.3098T>C | |
1 | g.197434800T>G | CA422672552 | CRB1 | c.2937T>G (p.Gly979=) c.1818T>G (p.Gly606=) c.1080T>G (p.Gly360=) c.2601T>G (p.Gly867=) c.2865T>G (p.Gly955=) c.2129-800T>G (n.2129-800T>G) n.2938T>G n.3146T>G c.2355T>G (p.Gly785=) c.1380T>G (p.Gly460=) c.2094T>G (p.Gly698=) c.3072T>G (p.Gly1024=) n.2890T>G n.3098T>G | |
1 | g.197434801T>A | CA344043754 | CRB1 | c.2938T>A (p.Phe980Ile) c.1819T>A (p.Phe607Ile) c.1081T>A (p.Phe361Ile) c.2602T>A (p.Phe868Ile) c.2866T>A (p.Phe956Ile) c.2129-799T>A (n.2129-799T>A) n.2939T>A n.3147T>A c.2356T>A (p.Phe786Ile) c.1381T>A (p.Phe461Ile) c.2095T>A (p.Phe699Ile) c.3073T>A (p.Phe1025Ile) n.2891T>A n.3099T>A | |
1 | g.197434801T>C | CA344043758 | CRB1 | c.2938T>C (p.Phe980Leu) c.1819T>C (p.Phe607Leu) c.1081T>C (p.Phe361Leu) c.2602T>C (p.Phe868Leu) c.2866T>C (p.Phe956Leu) c.2129-799T>C (n.2129-799T>C) n.2939T>C n.3147T>C c.2356T>C (p.Phe786Leu) c.1381T>C (p.Phe461Leu) c.2095T>C (p.Phe699Leu) c.3073T>C (p.Phe1025Leu) n.2891T>C n.3099T>C | |
1 | g.197434801T>G | CA344043762 | CRB1 | c.2938T>G (p.Phe980Val) c.1819T>G (p.Phe607Val) c.1081T>G (p.Phe361Val) c.2602T>G (p.Phe868Val) c.2866T>G (p.Phe956Val) c.2129-799T>G (n.2129-799T>G) n.2939T>G n.3147T>G c.2356T>G (p.Phe786Val) c.1381T>G (p.Phe461Val) c.2095T>G (p.Phe699Val) c.3073T>G (p.Phe1025Val) n.2891T>G n.3099T>G | dbSNP gnomAD v2 COSMIC COSMIC |
1 | g.197434801T= | CA1218068671 | CRB1 | c.2938T= (p.Phe980=) c.1819T= (p.Phe607=) c.1081T= (p.Phe361=) c.2602T= (p.Phe868=) c.2866T= (p.Phe956=) c.2129-799T= (n.2129-799T=) n.2939T= n.3147T= c.2356T= (p.Phe786=) c.1381T= (p.Phe461=) c.2095T= (p.Phe699=) c.3073T= (p.Phe1025=) n.2891T= n.3099T= | |
1 | g.197434802T>A | CA344043780 | CRB1 | c.2939T>A (p.Phe980Tyr) c.1820T>A (p.Phe607Tyr) c.1082T>A (p.Phe361Tyr) c.2603T>A (p.Phe868Tyr) c.2867T>A (p.Phe956Tyr) c.2129-798T>A (n.2129-798T>A) n.2940T>A n.3148T>A c.2357T>A (p.Phe786Tyr) c.1382T>A (p.Phe461Tyr) c.2096T>A (p.Phe699Tyr) c.3074T>A (p.Phe1025Tyr) n.2892T>A n.3100T>A | ClinVar dbSNP |
1 | g.197434802T>C | CA344043777 | CRB1 | c.2939T>C (p.Phe980Ser) c.1820T>C (p.Phe607Ser) c.1082T>C (p.Phe361Ser) c.2603T>C (p.Phe868Ser) c.2867T>C (p.Phe956Ser) c.2129-798T>C (n.2129-798T>C) n.2940T>C n.3148T>C c.2357T>C (p.Phe786Ser) c.1382T>C (p.Phe461Ser) c.2096T>C (p.Phe699Ser) c.3074T>C (p.Phe1025Ser) n.2892T>C n.3100T>C | |
1 | g.197434802T>G | CA344043773 | CRB1 | c.2939T>G (p.Phe980Cys) c.1820T>G (p.Phe607Cys) c.1082T>G (p.Phe361Cys) c.2603T>G (p.Phe868Cys) c.2867T>G (p.Phe956Cys) c.2129-798T>G (n.2129-798T>G) n.2940T>G n.3148T>G c.2357T>G (p.Phe786Cys) c.1382T>G (p.Phe461Cys) c.2096T>G (p.Phe699Cys) c.3074T>G (p.Phe1025Cys) n.2892T>G n.3100T>G | ClinVar dbSNP |
1 | g.197434802T= | CA1218068672 | CRB1 | c.2939T= (p.Phe980=) c.1820T= (p.Phe607=) c.1082T= (p.Phe361=) c.2603T= (p.Phe868=) c.2867T= (p.Phe956=) c.2129-798T= (n.2129-798T=) n.2940T= n.3148T= c.2357T= (p.Phe786=) c.1382T= (p.Phe461=) c.2096T= (p.Phe699=) c.3074T= (p.Phe1025=) n.2892T= n.3100T= | |
1 | g.197434803C>A | CA344043787 | CRB1 | c.2940C>A (p.Phe980Leu) c.1821C>A (p.Phe607Leu) c.1083C>A (p.Phe361Leu) c.2604C>A (p.Phe868Leu) c.2868C>A (p.Phe956Leu) c.2129-797C>A (n.2129-797C>A) n.2941C>A n.3149C>A c.2358C>A (p.Phe786Leu) c.1383C>A (p.Phe461Leu) c.2097C>A (p.Phe699Leu) c.3075C>A (p.Phe1025Leu) n.2893C>A n.3101C>A | |
1 | g.197434803C>G | CA344043788 | CRB1 | c.2940C>G (p.Phe980Leu) c.1821C>G (p.Phe607Leu) c.1083C>G (p.Phe361Leu) c.2604C>G (p.Phe868Leu) c.2868C>G (p.Phe956Leu) c.2129-797C>G (n.2129-797C>G) n.2941C>G n.3149C>G c.2358C>G (p.Phe786Leu) c.1383C>G (p.Phe461Leu) c.2097C>G (p.Phe699Leu) c.3075C>G (p.Phe1025Leu) n.2893C>G n.3101C>G | |
1 | g.197434803C>T | CA422672555 | CRB1 | c.2940C>T (p.Phe980=) c.1821C>T (p.Phe607=) c.1083C>T (p.Phe361=) c.2604C>T (p.Phe868=) c.2868C>T (p.Phe956=) c.2129-797C>T (n.2129-797C>T) n.2941C>T n.3149C>T c.2358C>T (p.Phe786=) c.1383C>T (p.Phe461=) c.2097C>T (p.Phe699=) c.3075C>T (p.Phe1025=) n.2893C>T n.3101C>T | |
1 | g.197434803_197434805delinsCAG | CA1218068673 | CRB1 | c.2940_2942delinsCAG (p.Phe980=) c.1821_1823delinsCAG (p.Phe607=) c.1083_1085delinsCAG (p.Phe361=) c.2604_2606delinsCAG (p.Phe868=) c.2868_2870delinsCAG (p.Phe956=) c.2129-797_2129-795delinsCAG (n.2129-797_2129-795delinsCAG) n.2941_2943delinsCAG n.3149_3151delinsCAG c.2358_2360delinsCAG (p.Phe786=) c.1383_1385delinsCAG (p.Phe461=) c.2097_2099delinsCAG (p.Phe699=) c.3075_3077delinsCAG (p.Phe1025=) n.2893_2895delinsCAG n.3101_3103delinsCAG | |
1 | g.197434804A>C | CA422672556 | CRB1 | c.2941A>C (p.Arg981=) c.1822A>C (p.Arg608=) c.1084A>C (p.Arg362=) c.2605A>C (p.Arg869=) c.2869A>C (p.Arg957=) c.2129-796A>C (n.2129-796A>C) n.2942A>C n.3150A>C c.2359A>C (p.Arg787=) c.1384A>C (p.Arg462=) c.2098A>C (p.Arg700=) c.3076A>C (p.Arg1026=) n.2894A>C n.3102A>C | |
1 | g.197434804A>G | CA344043789 | CRB1 | c.2941A>G (p.Arg981Gly) c.1822A>G (p.Arg608Gly) c.1084A>G (p.Arg362Gly) c.2605A>G (p.Arg869Gly) c.2869A>G (p.Arg957Gly) c.2129-796A>G (n.2129-796A>G) n.2942A>G n.3150A>G c.2359A>G (p.Arg787Gly) c.1384A>G (p.Arg462Gly) c.2098A>G (p.Arg700Gly) c.3076A>G (p.Arg1026Gly) n.2894A>G n.3102A>G | |
1 | g.197434804A>T | CA344043790 | CRB1 | c.2941A>T (p.Arg981Ter) c.1822A>T (p.Arg608Ter) c.1084A>T (p.Arg362Ter) c.2605A>T (p.Arg869Ter) c.2869A>T (p.Arg957Ter) c.2129-796A>T (n.2129-796A>T) n.2942A>T n.3150A>T c.2359A>T (p.Arg787Ter) c.1384A>T (p.Arg462Ter) c.2098A>T (p.Arg700Ter) c.3076A>T (p.Arg1026Ter) n.2894A>T n.3102A>T | |
1 | g.197434805_197434806del | CA729762531 | CRB1 | c.2942_2943del (p.Arg981AsnfsTer16) c.1823_1824del (p.Arg608AsnfsTer16) c.1085_1086del (p.Arg362AsnfsTer16) c.2606_2607del (p.Arg869AsnfsTer16) c.2870_2871del (p.Arg957AsnfsTer16) c.2129-795_2129-794del (n.2129-795_2129-794del) n.2943_2944del n.3151_3152del c.2360_2361del (p.Arg787AsnfsTer16) c.1385_1386del (p.Arg462AsnfsTer16) c.2099_2100del (p.Arg700AsnfsTer16) c.3077_3078del (p.Arg1026AsnfsTer16) n.2895_2896del n.3103_3104del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.197434805G>A | CA344043792 | CRB1 | c.2942G>A (p.Arg981Lys) c.1823G>A (p.Arg608Lys) c.1085G>A (p.Arg362Lys) c.2606G>A (p.Arg869Lys) c.2870G>A (p.Arg957Lys) c.2129-795G>A (n.2129-795G>A) n.2943G>A n.3151G>A c.2360G>A (p.Arg787Lys) c.1385G>A (p.Arg462Lys) c.2099G>A (p.Arg700Lys) c.3077G>A (p.Arg1026Lys) n.2895G>A n.3103G>A | |
1 | g.197434805G>C | CA344043795 | CRB1 | c.2942G>C (p.Arg981Thr) c.1823G>C (p.Arg608Thr) c.1085G>C (p.Arg362Thr) c.2606G>C (p.Arg869Thr) c.2870G>C (p.Arg957Thr) c.2129-795G>C (n.2129-795G>C) n.2943G>C n.3151G>C c.2360G>C (p.Arg787Thr) c.1385G>C (p.Arg462Thr) c.2099G>C (p.Arg700Thr) c.3077G>C (p.Arg1026Thr) n.2895G>C n.3103G>C | dbSNP |
1 | g.197434805G>T | CA344043800 | CRB1 | c.2942G>T (p.Arg981Ile) c.1823G>T (p.Arg608Ile) c.1085G>T (p.Arg362Ile) c.2606G>T (p.Arg869Ile) c.2870G>T (p.Arg957Ile) c.2129-795G>T (n.2129-795G>T) n.2943G>T n.3151G>T c.2360G>T (p.Arg787Ile) c.1385G>T (p.Arg462Ile) c.2099G>T (p.Arg700Ile) c.3077G>T (p.Arg1026Ile) n.2895G>T n.3103G>T | |
1 | g.197434806A>C | CA344043803 | CRB1 | c.2943A>C (p.Arg981Ser) c.1824A>C (p.Arg608Ser) c.1086A>C (p.Arg362Ser) c.2607A>C (p.Arg869Ser) c.2871A>C (p.Arg957Ser) c.2129-794A>C (n.2129-794A>C) n.2944A>C n.3152A>C c.2361A>C (p.Arg787Ser) c.1386A>C (p.Arg462Ser) c.2100A>C (p.Arg700Ser) c.3078A>C (p.Arg1026Ser) n.2896A>C n.3104A>C | |
1 | g.197434806A>G | CA422672557 | CRB1 | c.2943A>G (p.Arg981=) c.1824A>G (p.Arg608=) c.1086A>G (p.Arg362=) c.2607A>G (p.Arg869=) c.2871A>G (p.Arg957=) c.2129-794A>G (n.2129-794A>G) n.2944A>G n.3152A>G c.2361A>G (p.Arg787=) c.1386A>G (p.Arg462=) c.2100A>G (p.Arg700=) c.3078A>G (p.Arg1026=) n.2896A>G n.3104A>G | |
1 | g.197434806A>T | CA344043806 | CRB1 | c.2943A>T (p.Arg981Ser) c.1824A>T (p.Arg608Ser) c.1086A>T (p.Arg362Ser) c.2607A>T (p.Arg869Ser) c.2871A>T (p.Arg957Ser) c.2129-794A>T (n.2129-794A>T) n.2944A>T n.3152A>T c.2361A>T (p.Arg787Ser) c.1386A>T (p.Arg462Ser) c.2100A>T (p.Arg700Ser) c.3078A>T (p.Arg1026Ser) n.2896A>T n.3104A>T | |
1 | g.197434807A>C | CA344043809 | CRB1 | c.2944A>C (p.Thr982Pro) c.1825A>C (p.Thr609Pro) c.1087A>C (p.Thr363Pro) c.2608A>C (p.Thr870Pro) c.2872A>C (p.Thr958Pro) c.2129-793A>C (n.2129-793A>C) n.2945A>C n.3153A>C c.2362A>C (p.Thr788Pro) c.1387A>C (p.Thr463Pro) c.2101A>C (p.Thr701Pro) c.3079A>C (p.Thr1027Pro) n.2897A>C n.3105A>C | |
1 | g.197434807A>G | CA344043814 | CRB1 | c.2944A>G (p.Thr982Ala) c.1825A>G (p.Thr609Ala) c.1087A>G (p.Thr363Ala) c.2608A>G (p.Thr870Ala) c.2872A>G (p.Thr958Ala) c.2129-793A>G (n.2129-793A>G) n.2945A>G n.3153A>G c.2362A>G (p.Thr788Ala) c.1387A>G (p.Thr463Ala) c.2101A>G (p.Thr701Ala) c.3079A>G (p.Thr1027Ala) n.2897A>G n.3105A>G | |
1 | g.197434807A>T | CA344043823 | CRB1 | c.2944A>T (p.Thr982Ser) c.1825A>T (p.Thr609Ser) c.1087A>T (p.Thr363Ser) c.2608A>T (p.Thr870Ser) c.2872A>T (p.Thr958Ser) c.2129-793A>T (n.2129-793A>T) n.2945A>T n.3153A>T c.2362A>T (p.Thr788Ser) c.1387A>T (p.Thr463Ser) c.2101A>T (p.Thr701Ser) c.3079A>T (p.Thr1027Ser) n.2897A>T n.3105A>T |