Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197434710T>ACA422672500CRB1c.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
1g.197434710T>CCA422672501CRB1c.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
1g.197434710T>GCA344042938CRB1c.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
1g.197434713_197434718delCA2586967862CRB1c.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
1g.197434711G>ACA344042942CRB1c.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
1g.197434711G>CCA344042940CRB1c.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
1g.197434711G>TCA344042939CRB1c.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
1g.197434712C>ACA344042952CRB1c.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
1g.197434712C=CA1218068641CRB1c.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=
1g.197434712C>GCA344042954CRB1c.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
1g.197434712C>TCA344042957CRB1c.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
1g.197434713A>CCA422672502CRB1c.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
1g.197434713A>GCA422672503CRB1c.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
1g.197434713A>TCA422672504CRB1c.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
1g.197434714A>CCA344042963CRB1c.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
1g.197434714A>GCA344042965CRB1c.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
1g.197434714A>TCA344042967CRB1c.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
1g.197434715A=CA1218068642CRB1c.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=
1g.197434715A>CCA344042970CRB1c.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
1g.197434715A>GCA344042971CRB1c.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
1g.197434715A>TCA344042974CRB1c.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
1g.197434716T>ACA344042982CRB1c.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
1g.197434716T>CCA422672505CRB1c.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
1g.197434716T>GCA344042984CRB1c.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
1g.197434716T=CA1143538609CRB1c.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=
1g.197434716dupCA228025CRB1c.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
1g.197434717G>ACA344042995CRB1c.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
1g.197434717G>CCA344043001CRB1c.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
1g.197434717G>TCA344043004CRB1c.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
1g.197434718C>ACA344043017CRB1c.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
1g.197434718C=CA1149045205CRB1c.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=
1g.197434718C>GCA344043014CRB1c.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
1g.197434718C>TCA1312238CRB1c.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
1g.197434719T>ACA422672506CRB1c.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
1g.197434719T>CCA422672507CRB1c.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
1g.197434719T>GCA422672508CRB1c.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
1g.197434720G>ACA1312239CRB1c.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
1g.197434720G>CCA344043023CRB1c.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
1g.197434720G=CA1218068643CRB1c.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=
1g.197434720G>TCA344043027CRB1c.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
1g.197434721T>ACA344043028CRB1c.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
1g.197434721T>CCA344043029CRB1c.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
1g.197434721T>GCA344043030CRB1c.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
1g.197434721T=CA1218068644CRB1c.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=
1g.197434722T>ACA422672509CRB1c.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
1g.197434722T>CCA422672511CRB1c.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
1g.197434722T>GCA422672510CRB1c.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
1g.197434723T>ACA344043033CRB1c.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
1g.197434723T>CCA344043034CRB1c.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
1g.197434723T>GCA344043036CRB1c.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
1g.197434724T>ACA344043039CRB1c.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
1g.197434724T>CCA344043040CRB1c.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
1g.197434724T>GCA344043044CRB1c.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
1g.197434725T>ACA344043045CRB1c.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
1g.197434725T>CCA422672512CRB1c.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
1g.197434725T>GCA344043048CRB1c.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
1g.197434726A=CA1218068645CRB1c.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=
1g.197434726A>CCA10609286CRB1c.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
1g.197434726A>GCA344043052CRB1c.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
1g.197434726A>TCA344043051CRB1c.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
1g.197434727A>CCA344043053CRB1c.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
1g.197434727A>GCA344043059CRB1c.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
1g.197434727A>TCA344043062CRB1c.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
1g.197434728T>ACA344043067CRB1c.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
1g.197434728T>CCA422672513CRB1c.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
1g.197434728T>GCA344043074CRB1c.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
1g.197434729G>ACA35906497CRB1c.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
1g.197434729G>CCA344043081CRB1c.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
1g.197434729G=CA1218068646CRB1c.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=
1g.197434729G>TCA344043078CRB1c.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
1g.197434730G>ACA35906528CRB1c.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
1g.197434730G>CCA344043091CRB1c.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
1g.197434730G=CA1143537108CRB1c.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=
1g.197434730G>TCA344043094CRB1c.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
1g.197434731A=CA1218068647CRB1c.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=
1g.197434731A>CCA422672514CRB1c.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
1g.197434731A>GCA422672515CRB1c.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
1g.197434731A>TCA422672516CRB1c.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
1g.197434732C>ACA344043098CRB1c.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
1g.197434732C=CA1218068648CRB1c.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=
1g.197434732C>GCA344043102CRB1c.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
1g.197434732C>TCA10581631CRB1c.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
1g.197434733A>CCA344043117CRB1c.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
1g.197434733A>GCA344043126CRB1c.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
1g.197434733A>TCA344043121CRB1c.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
1g.197434734A>CCA344043130CRB1c.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
1g.197434734A>GCA422672517CRB1c.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
1g.197434734A>TCA344043132CRB1c.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
1g.197434735A>CCA344043135CRB1c.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
1g.197434735A>GCA344043137CRB1c.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
1g.197434735A>TCA344043139CRB1c.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
1g.197434735_197434736delCA2649670635CRB1c.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
1g.197434736G>ACA344043141CRB1c.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
1g.197434736G>CCA344043144CRB1c.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
1g.197434736G=CA1218068649CRB1c.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=
1g.197434736G>TCA344043147CRB1c.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
1g.197434737C>ACA344043150CRB1c.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
1g.197434737C=CA1143885337CRB1c.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=
1g.197434737C>GCA344043153CRB1c.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
1g.197434737C>TCA1312240CRB1c.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
1g.197434738G>ACA1312241CRB1c.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
1g.197434738G>CCA344043160CRB1c.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
1g.197434738G=CA1146510713CRB1c.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=
1g.197434738G>TCA344043157CRB1c.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
1g.197434739G>ACA344043163CRB1c.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
1g.197434739G>CCA344043165CRB1c.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
1g.197434739G=CA1218068650CRB1c.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=
1g.197434739G>TCA344043167CRB1c.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
1g.197434740T>ACA422672518CRB1c.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
1g.197434740T>CCA422672519CRB1c.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
1g.197434740T>GCA422672520CRB1c.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
1g.197434740T=CA1218068651CRB1c.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=
1g.197434741C>ACA344043169CRB1c.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
1g.197434741C>GCA344043170CRB1c.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
1g.197434741C>TCA344043171CRB1c.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
1g.197434741_197434742delinsCACA1218068652CRB1c.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
1g.197434742A>CCA344043180CRB1c.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
1g.197434742A>GCA344043173CRB1c.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
1g.197434742A>TCA344043175CRB1c.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
1g.197434744delCA528535452CRB1c.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
1g.197434743A=CA1218068653CRB1c.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=
1g.197434743A>CCA344043184CRB1c.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
1g.197434743A>GCA422672521CRB1c.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
1g.197434743A>TCA35906566CRB1c.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
1g.197434744A>CCA344043196CRB1c.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
1g.197434744A>GCA344043204CRB1c.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
1g.197434744A>TCA344043206CRB1c.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
1g.197434744_197434747delinsATATCA1218068654CRB1c.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
1g.197434745T>ACA344043217CRB1c.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
1g.197434745T>CCA344043210CRB1c.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
1g.197434745T>GCA344043215CRB1c.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
1g.197434745_197434751delinsTATTATTCA1140762957CRB1c.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
1g.197434749_197434751delCA228026CRB1c.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
1g.197434746A>CCA422672522CRB1c.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
1g.197434746A>GCA344043220CRB1c.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
1g.197434746A>TCA422672523CRB1c.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
1g.197434747T>ACA344043222CRB1c.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
1g.197434747T>CCA422672524CRB1c.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
1g.197434747T>GCA344043225CRB1c.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
1g.197434748dupCA2649670636CRB1c.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
1g.197434748T>ACA344043230CRB1c.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
1g.197434748T>CCA344043231CRB1c.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
1g.197434748T>GCA344043232CRB1c.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
1g.197434749A>CCA344043235CRB1c.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
1g.197434749A>GCA422672525CRB1c.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
1g.197434749A>TCA344043237CRB1c.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
1g.197434750T>ACA344043239CRB1c.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
1g.197434750T>CCA344043245CRB1c.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
1g.197434750T>GCA344043247CRB1c.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
1g.197434751T>ACA344043251CRB1c.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
1g.197434751T>CCA344043258CRB1c.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
1g.197434751T>GCA344043255CRB1c.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
1g.197434752C>ACA35906580CRB1c.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
1g.197434752C=CA1218068655CRB1c.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=
1g.197434752C>GCA344043264CRB1c.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
1g.197434752C>TCA422672526CRB1c.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
1g.197434753A>CCA422672527CRB1c.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
1g.197434753A>GCA344043269CRB1c.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
1g.197434753A>TCA344043272CRB1c.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
1g.197434754G>ACA344043277CRB1c.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
1g.197434754G>CCA344043280CRB1c.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
1g.197434754G>TCA344043283CRB1c.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
1g.197434755A=CA1142137119CRB1c.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=
1g.197434755A>CCA344043286CRB1c.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
1g.197434755A>GCA1312242CRB1c.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
1g.197434755A>TCA344043290CRB1c.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
1g.197434756A>CCA344043297CRB1c.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
1g.197434756A>GCA344043299CRB1c.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
1g.197434756A>TCA344043301CRB1c.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
1g.197434757G>ACA35906593CRB1c.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
1g.197434757G>CCA344043308CRB1c.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
1g.197434757G=CA1218068656CRB1c.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=
1g.197434757G>TCA344043305CRB1c.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
1g.197434758C>ACA344043310CRB1c.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
1g.197434758C>GCA344043313CRB1c.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
1g.197434758C>TCA422672528CRB1c.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
1g.197434759A>CCA344043318CRB1c.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
1g.197434759A>GCA344043320CRB1c.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
1g.197434759A>TCA344043322CRB1c.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
1g.197434760A>CCA344043325CRB1c.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
1g.197434760A>GCA344043326CRB1c.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
1g.197434760A>TCA344043327CRB1c.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
1g.197434761T>ACA344043331CRB1c.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
1g.197434761T>CCA422672529CRB1c.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
1g.197434761T>GCA344043334CRB1c.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
1g.197434762G>ACA344043355CRB1c.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
1g.197434762G>CCA344043340CRB1c.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
1g.197434762G>TCA344043337CRB1c.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
1g.197434763G>ACA35906600CRB1c.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
1g.197434763G>CCA344043366CRB1c.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
1g.197434763G=CA1143537111CRB1c.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=
1g.197434763G>TCA344043363CRB1c.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
1g.197434764G>ACA422672530CRB1c.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
1g.197434764G>CCA422672531CRB1c.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
1g.197434764G=CA1218068657CRB1c.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=
1g.197434764G>TCA1312243CRB1c.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
1g.197434767_197434779delCA2606719373CRB1c.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
1g.197434765A>CCA344043386CRB1c.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
1g.197434765A>GCA344043379CRB1c.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
1g.197434765A>TCA344043388CRB1c.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
1g.197434766A=CA1218068658CRB1c.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=
1g.197434766A>CCA344043394CRB1c.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
1g.197434766A>GCA344043396CRB1c.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
1g.197434766A>TCA344043399CRB1c.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
1g.197434767T>ACA344043402CRB1c.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
1g.197434767T>CCA422672532CRB1c.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
1g.197434767T>GCA344043406CRB1c.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
1g.197434767dupCA2740090446CRB1c.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
1g.197434768A>CCA344043408CRB1c.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
1g.197434768A>GCA344043413CRB1c.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
1g.197434768A>TCA344043420CRB1c.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
1g.197434769T>ACA344043423CRB1c.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
1g.197434769T>CCA344043425CRB1c.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
1g.197434769T>GCA344043428CRB1c.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
1g.197434770dupCA2649670637CRB1c.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
1g.197434770T>ACA422672533CRB1c.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
1g.197434770T>CCA422672534CRB1c.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
1g.197434770T>GCA344043432CRB1c.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
1g.197434771A=CA1218068659CRB1c.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=
1g.197434771A>CCA1312244CRB1c.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
1g.197434771A>GCA344043441CRB1c.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
1g.197434771A>TCA344043439CRB1c.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
1g.197434772C>ACA344043443CRB1c.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
1g.197434772C=CA1218068660CRB1c.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=
1g.197434772C>GCA344043456CRB1c.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
1g.197434772C>TCA1312245CRB1c.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
1g.197434773C>ACA422672535CRB1c.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
1g.197434773C>GCA422672536CRB1c.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
1g.197434773C>TCA422672537CRB1c.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
1g.197434774A>CCA422672538CRB1c.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
1g.197434774A>GCA344043463CRB1c.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
1g.197434774A>TCA344043468CRB1c.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
1g.197434775G>ACA344043472CRB1c.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
1g.197434775G>CCA344043473CRB1c.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
1g.197434775G=CA1218068661CRB1c.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=
1g.197434775G>TCA344043474CRB1c.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
1g.197434776A>CCA344043475CRB1c.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
1g.197434776A>GCA422672539CRB1c.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
1g.197434776A>TCA344043476CRB1c.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
1g.197434777G>ACA344043487CRB1c.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
1g.197434777G>CCA344043489CRB1c.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
1g.197434777G=CA1218068662CRB1c.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=
1g.197434777G>TCA344043483CRB1c.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
1g.197434778A>CCA344043494CRB1c.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
1g.197434778A>GCA344043499CRB1c.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
1g.197434778A>TCA344043501CRB1c.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
1g.197434779A=CA1218068663CRB1c.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=
1g.197434779A>CCA344043504CRB1c.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
1g.197434779A>GCA422672540CRB1c.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
1g.197434779A>TCA344043506CRB1c.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
1g.197434780C>ACA344043510CRB1c.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
1g.197434780C=CA1218068664CRB1c.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=
1g.197434780C>GCA10608724CRB1c.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
1g.197434780C>TCA344043516CRB1c.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
1g.197434781T>ACA344043521CRB1c.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
1g.197434781T>CCA344043533CRB1c.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
1g.197434781T>GCA344043534CRB1c.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
1g.197434782C>ACA422672541CRB1c.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
1g.197434782C=CA1218068665CRB1c.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=
1g.197434782C>GCA422672542CRB1c.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
1g.197434782C>TCA1312246CRB1c.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
1g.197434783A>CCA344043547CRB1c.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
1g.197434783A>GCA344043537CRB1c.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
1g.197434783A>TCA344043544CRB1c.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
1g.197434784C>ACA344043555CRB1c.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
1g.197434784C=CA1147900844CRB1c.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=
1g.197434784C>GCA1312247CRB1c.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
1g.197434784C>TCA1312248CRB1c.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
1g.197434785C>ACA422672543CRB1c.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
1g.197434785C=CA1148399697CRB1c.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=
1g.197434785C>GCA1312249CRB1c.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
1g.197434785C>TCA422672544CRB1c.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
1g.197434786A>CCA344043596CRB1c.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
1g.197434786A>GCA344043598CRB1c.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
1g.197434786A>TCA344043599CRB1c.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
1g.197434787A>CCA344043611CRB1c.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
1g.197434787A>GCA344043612CRB1c.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
1g.197434787A>TCA344043616CRB1c.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
1g.197434787_197434788insACACACCCA2747248274CRB1c.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
1g.197434788T>ACA344043620CRB1c.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
1g.197434788T>CCA422672545CRB1c.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
1g.197434788T>GCA344043624CRB1c.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
1g.197434788T=CA1218068666CRB1c.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=
1g.197434789A=CA1218068667CRB1c.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=
1g.197434789A>CCA344043650CRB1c.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
1g.197434789A>GCA1312250CRB1c.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
1g.197434789A>TCA344043630CRB1c.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
1g.197434790T>ACA344043658CRB1c.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
1g.197434790T>CCA344043666CRB1c.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
1g.197434790T>GCA344043662CRB1c.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
1g.197434791C>ACA422672546CRB1c.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
1g.197434791C>GCA344043669CRB1c.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
1g.197434791C>TCA422672547CRB1c.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
1g.197434792A=CA1218068668CRB1c.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=
1g.197434792A>CCA344043672CRB1c.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
1g.197434792A>GCA344043674CRB1c.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
1g.197434792A>TCA344043678CRB1c.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
1g.197434793C>ACA344043681CRB1c.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
1g.197434793C=CA1218068669CRB1c.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=
1g.197434793C>GCA344043685CRB1c.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
1g.197434793C>TCA344043687CRB1c.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
1g.197434794A=CA1218068670CRB1c.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=
1g.197434794A>CCA422672548CRB1c.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
1g.197434794A>GCA1312251CRB1c.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
1g.197434794A>TCA422672549CRB1c.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
1g.197434795T>ACA344043695CRB1c.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
1g.197434795T>CCA344043698CRB1c.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
1g.197434795T>GCA344043703CRB1c.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
1g.197434796T>ACA344043707CRB1c.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
1g.197434796T>CCA344043705CRB1c.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
1g.197434796T>GCA344043704CRB1c.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
1g.197434797T>ACA344043711CRB1c.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
1g.197434797T>CCA422672550CRB1c.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
1g.197434797T>GCA344043713CRB1c.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
1g.197434798G>ACA344043724CRB1c.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
1g.197434798G>CCA344043729CRB1c.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
1g.197434798G>TCA344043734CRB1c.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
1g.197434799G>ACA344043740CRB1c.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
1g.197434799G>CCA344043743CRB1c.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
1g.197434799G>TCA344043749CRB1c.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
1g.197434800T>ACA422672554CRB1c.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
1g.197434800T>CCA422672553CRB1c.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
1g.197434800T>GCA422672552CRB1c.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
1g.197434801T>ACA344043754CRB1c.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
1g.197434801T>CCA344043758CRB1c.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
1g.197434801T>GCA344043762CRB1c.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
1g.197434801T=CA1218068671CRB1c.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=
1g.197434802T>ACA344043780CRB1c.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
1g.197434802T>CCA344043777CRB1c.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
1g.197434802T>GCA344043773CRB1c.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
1g.197434802T=CA1218068672CRB1c.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=
1g.197434803C>ACA344043787CRB1c.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
1g.197434803C>GCA344043788CRB1c.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
1g.197434803C>TCA422672555CRB1c.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
1g.197434803_197434805delinsCAGCA1218068673CRB1c.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
1g.197434804A>CCA422672556CRB1c.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
1g.197434804A>GCA344043789CRB1c.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
1g.197434804A>TCA344043790CRB1c.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
1g.197434805_197434806delCA729762531CRB1c.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
1g.197434805G>ACA344043792CRB1c.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
1g.197434805G>CCA344043795CRB1c.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
1g.197434805G>TCA344043800CRB1c.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
1g.197434806A>CCA344043803CRB1c.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
1g.197434806A>GCA422672557CRB1c.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
1g.197434806A>TCA344043806CRB1c.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
1g.197434807A>CCA344043809CRB1c.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
1g.197434807A>GCA344043814CRB1c.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
1g.197434807A>TCA344043823CRB1c.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
1g.197434808C>ACA344043841CRB1c.2945C>A (p.Thr982Lys)
c.1826C>A (p.Thr609Lys)
c.1088C>A (p.Thr363Lys)
c.2609C>A (p.Thr870Lys)
c.2873C>A (p.Thr958Lys)
c.2129-792C>A (n.2129-792C>A)
n.2946C>A
n.3154C>A
c.2363C>A (p.Thr788Lys)
c.1388C>A (p.Thr463Lys)
c.2102C>A (p.Thr701Lys)
c.3080C>A (p.Thr1027Lys)
n.2898C>A
n.3106C>A
 dbSNP gnomAD v4
1g.197434808C=CA1218068674CRB1c.2945C= (p.Thr982=)
c.1826C= (p.Thr609=)
c.1088C= (p.Thr363=)
c.2609C= (p.Thr870=)
c.2873C= (p.Thr958=)
c.2129-792C= (n.2129-792C=)
n.2946C=
n.3154C=
c.2363C= (p.Thr788=)
c.1388C= (p.Thr463=)
c.2102C= (p.Thr701=)
c.3080C= (p.Thr1027=)
n.2898C=
n.3106C=
1g.197434808C>GCA344043836CRB1c.2945C>G (p.Thr982Arg)
c.1826C>G (p.Thr609Arg)
c.1088C>G (p.Thr363Arg)
c.2609C>G (p.Thr870Arg)
c.2873C>G (p.Thr958Arg)
c.2129-792C>G (n.2129-792C>G)
n.2946C>G
n.3154C>G
c.2363C>G (p.Thr788Arg)
c.1388C>G (p.Thr463Arg)
c.2102C>G (p.Thr701Arg)
c.3080C>G (p.Thr1027Arg)
n.2898C>G
n.3106C>G
1g.197434808C>TCA344043827CRB1c.2945C>T (p.Thr982Ile)
c.1826C>T (p.Thr609Ile)
c.1088C>T (p.Thr363Ile)
c.2609C>T (p.Thr870Ile)
c.2873C>T (p.Thr958Ile)
c.2129-792C>T (n.2129-792C>T)
n.2946C>T
n.3154C>T
c.2363C>T (p.Thr788Ile)
c.1388C>T (p.Thr463Ile)
c.2102C>T (p.Thr701Ile)
c.3080C>T (p.Thr1027Ile)
n.2898C>T
n.3106C>T
1g.197434809A>CCA422672558CRB1c.2946A>C (p.Thr982=)
c.1827A>C (p.Thr609=)
c.1089A>C (p.Thr363=)
c.2610A>C (p.Thr870=)
c.2874A>C (p.Thr958=)
c.2129-791A>C (n.2129-791A>C)
n.2947A>C
n.3155A>C
c.2364A>C (p.Thr788=)
c.1389A>C (p.Thr463=)
c.2103A>C (p.Thr701=)
c.3081A>C (p.Thr1027=)
n.2899A>C
n.3107A>C
1g.197434809A>GCA422672559CRB1c.2946A>G (p.Thr982=)
c.1827A>G (p.Thr609=)
c.1089A>G (p.Thr363=)
c.2610A>G (p.Thr870=)
c.2874A>G (p.Thr958=)
c.2129-791A>G (n.2129-791A>G)
n.2947A>G
n.3155A>G
c.2364A>G (p.Thr788=)
c.1389A>G (p.Thr463=)
c.2103A>G (p.Thr701=)
c.3081A>G (p.Thr1027=)
n.2899A>G
n.3107A>G
1g.197434809A>TCA422672560CRB1c.2946A>T (p.Thr982=)
c.1827A>T (p.Thr609=)
c.1089A>T (p.Thr363=)
c.2610A>T (p.Thr870=)
c.2874A>T (p.Thr958=)
c.2129-791A>T (n.2129-791A>T)
n.2947A>T
n.3155A>T
c.2364A>T (p.Thr788=)
c.1389A>T (p.Thr463=)
c.2103A>T (p.Thr701=)
c.3081A>T (p.Thr1027=)
n.2899A>T
n.3107A>T
1g.197434810A>CCA422672561CRB1c.2947A>C (p.Arg983=)
c.1828A>C (p.Arg610=)
c.1090A>C (p.Arg364=)
c.2611A>C (p.Arg871=)
c.2875A>C (p.Arg959=)
c.2129-790A>C (n.2129-790A>C)
n.2948A>C
n.3156A>C
c.2365A>C (p.Arg789=)
c.1390A>C (p.Arg464=)
c.2104A>C (p.Arg702=)
c.3082A>C (p.Arg1028=)
n.2900A>C
n.3108A>C
1g.197434810A>GCA344043846CRB1c.2947A>G (p.Arg983Gly)
c.1828A>G (p.Arg610Gly)
c.1090A>G (p.Arg364Gly)
c.2611A>G (p.Arg871Gly)
c.2875A>G (p.Arg959Gly)
c.2129-790A>G (n.2129-790A>G)
n.2948A>G
n.3156A>G
c.2365A>G (p.Arg789Gly)
c.1390A>G (p.Arg464Gly)
c.2104A>G (p.Arg702Gly)
c.3082A>G (p.Arg1028Gly)
n.2900A>G
n.3108A>G
1g.197434810A>TCA344043851CRB1c.2947A>T (p.Arg983Trp)
c.1828A>T (p.Arg610Trp)
c.1090A>T (p.Arg364Trp)
c.2611A>T (p.Arg871Trp)
c.2875A>T (p.Arg959Trp)
c.2129-790A>T (n.2129-790A>T)
n.2948A>T
n.3156A>T
c.2365A>T (p.Arg789Trp)
c.1390A>T (p.Arg464Trp)
c.2104A>T (p.Arg702Trp)
c.3082A>T (p.Arg1028Trp)
n.2900A>T
n.3108A>T
 gnomAD v4 COSMIC COSMIC

Number of alleles fetched