Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
1g.197434811G>ACA35906684CRB1c.2948G>A (p.Arg983Lys)
c.1829G>A (p.Arg610Lys)
c.1091G>A (p.Arg364Lys)
c.2612G>A (p.Arg871Lys)
c.2876G>A (p.Arg959Lys)
c.2129-789G>A (n.2129-789G>A)
n.2949G>A
n.3157G>A
c.2366G>A (p.Arg789Lys)
c.1391G>A (p.Arg464Lys)
c.2105G>A (p.Arg702Lys)
c.3083G>A (p.Arg1028Lys)
n.2901G>A
n.3109G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.197434811G>CCA344043865CRB1c.2948G>C (p.Arg983Thr)
c.1829G>C (p.Arg610Thr)
c.1091G>C (p.Arg364Thr)
c.2612G>C (p.Arg871Thr)
c.2876G>C (p.Arg959Thr)
c.2129-789G>C (n.2129-789G>C)
n.2949G>C
n.3157G>C
c.2366G>C (p.Arg789Thr)
c.1391G>C (p.Arg464Thr)
c.2105G>C (p.Arg702Thr)
c.3083G>C (p.Arg1028Thr)
n.2901G>C
n.3109G>C
1g.197434811G=CA1218068675CRB1c.2948G= (p.Arg983=)
c.1829G= (p.Arg610=)
c.1091G= (p.Arg364=)
c.2612G= (p.Arg871=)
c.2876G= (p.Arg959=)
c.2129-789G= (n.2129-789G=)
n.2949G=
n.3157G=
c.2366G= (p.Arg789=)
c.1391G= (p.Arg464=)
c.2105G= (p.Arg702=)
c.3083G= (p.Arg1028=)
n.2901G=
n.3109G=
1g.197434811G>TCA344043868CRB1c.2948G>T (p.Arg983Met)
c.1829G>T (p.Arg610Met)
c.1091G>T (p.Arg364Met)
c.2612G>T (p.Arg871Met)
c.2876G>T (p.Arg959Met)
c.2129-789G>T (n.2129-789G>T)
n.2949G>T
n.3157G>T
c.2366G>T (p.Arg789Met)
c.1391G>T (p.Arg464Met)
c.2105G>T (p.Arg702Met)
c.3083G>T (p.Arg1028Met)
n.2901G>T
n.3109G>T
 dbSNP gnomAD v4
1g.197434812G>ACA422672562CRB1c.2949G>A (p.Arg983=)
c.1830G>A (p.Arg610=)
c.1092G>A (p.Arg364=)
c.2613G>A (p.Arg871=)
c.2877G>A (p.Arg959=)
c.2129-788G>A (n.2129-788G>A)
n.2950G>A
n.3158G>A
c.2367G>A (p.Arg789=)
c.1392G>A (p.Arg464=)
c.2106G>A (p.Arg702=)
c.3084G>A (p.Arg1028=)
n.2902G>A
n.3110G>A
 ClinVar dbSNP gnomAD v4
1g.197434812G>CCA344043874CRB1c.2949G>C (p.Arg983Ser)
c.1830G>C (p.Arg610Ser)
c.1092G>C (p.Arg364Ser)
c.2613G>C (p.Arg871Ser)
c.2877G>C (p.Arg959Ser)
c.2129-788G>C (n.2129-788G>C)
n.2950G>C
n.3158G>C
c.2367G>C (p.Arg789Ser)
c.1392G>C (p.Arg464Ser)
c.2106G>C (p.Arg702Ser)
c.3084G>C (p.Arg1028Ser)
n.2902G>C
n.3110G>C
1g.197434812G>TCA344043883CRB1c.2949G>T (p.Arg983Ser)
c.1830G>T (p.Arg610Ser)
c.1092G>T (p.Arg364Ser)
c.2613G>T (p.Arg871Ser)
c.2877G>T (p.Arg959Ser)
c.2129-788G>T (n.2129-788G>T)
n.2950G>T
n.3158G>T
c.2367G>T (p.Arg789Ser)
c.1392G>T (p.Arg464Ser)
c.2106G>T (p.Arg702Ser)
c.3084G>T (p.Arg1028Ser)
n.2902G>T
n.3110G>T
1g.197434813G>ACA344043887CRB1c.2950G>A (p.Asp984Asn)
c.1831G>A (p.Asp611Asn)
c.1093G>A (p.Asp365Asn)
c.2614G>A (p.Asp872Asn)
c.2878G>A (p.Asp960Asn)
c.2129-787G>A (n.2129-787G>A)
n.2951G>A
n.3159G>A
c.2368G>A (p.Asp790Asn)
c.1393G>A (p.Asp465Asn)
c.2107G>A (p.Asp703Asn)
c.3085G>A (p.Asp1029Asn)
n.2903G>A
n.3111G>A
 dbSNP gnomAD v2 gnomAD v4
1g.197434813G>CCA344043888CRB1c.2950G>C (p.Asp984His)
c.1831G>C (p.Asp611His)
c.1093G>C (p.Asp365His)
c.2614G>C (p.Asp872His)
c.2878G>C (p.Asp960His)
c.2129-787G>C (n.2129-787G>C)
n.2951G>C
n.3159G>C
c.2368G>C (p.Asp790His)
c.1393G>C (p.Asp465His)
c.2107G>C (p.Asp703His)
c.3085G>C (p.Asp1029His)
n.2903G>C
n.3111G>C
1g.197434813G=CA1218068676CRB1c.2950G= (p.Asp984=)
c.1831G= (p.Asp611=)
c.1093G= (p.Asp365=)
c.2614G= (p.Asp872=)
c.2878G= (p.Asp960=)
c.2129-787G= (n.2129-787G=)
n.2951G=
n.3159G=
c.2368G= (p.Asp790=)
c.1393G= (p.Asp465=)
c.2107G= (p.Asp703=)
c.3085G= (p.Asp1029=)
n.2903G=
n.3111G=
1g.197434813G>TCA344043889CRB1c.2950G>T (p.Asp984Tyr)
c.1831G>T (p.Asp611Tyr)
c.1093G>T (p.Asp365Tyr)
c.2614G>T (p.Asp872Tyr)
c.2878G>T (p.Asp960Tyr)
c.2129-787G>T (n.2129-787G>T)
n.2951G>T
n.3159G>T
c.2368G>T (p.Asp790Tyr)
c.1393G>T (p.Asp465Tyr)
c.2107G>T (p.Asp703Tyr)
c.3085G>T (p.Asp1029Tyr)
n.2903G>T
n.3111G>T
1g.197434814A=CA1218068677CRB1c.2951A= (p.Asp984=)
c.1832A= (p.Asp611=)
c.1094A= (p.Asp365=)
c.2615A= (p.Asp872=)
c.2879A= (p.Asp960=)
c.2129-786A= (n.2129-786A=)
n.2952A=
n.3160A=
c.2369A= (p.Asp790=)
c.1394A= (p.Asp465=)
c.2108A= (p.Asp703=)
c.3086A= (p.Asp1029=)
n.2904A=
n.3112A=
1g.197434814A>CCA344043894CRB1c.2951A>C (p.Asp984Ala)
c.1832A>C (p.Asp611Ala)
c.1094A>C (p.Asp365Ala)
c.2615A>C (p.Asp872Ala)
c.2879A>C (p.Asp960Ala)
c.2129-786A>C (n.2129-786A>C)
n.2952A>C
n.3160A>C
c.2369A>C (p.Asp790Ala)
c.1394A>C (p.Asp465Ala)
c.2108A>C (p.Asp703Ala)
c.3086A>C (p.Asp1029Ala)
n.2904A>C
n.3112A>C
 ClinVar dbSNP
1g.197434814A>GCA344043902CRB1c.2951A>G (p.Asp984Gly)
c.1832A>G (p.Asp611Gly)
c.1094A>G (p.Asp365Gly)
c.2615A>G (p.Asp872Gly)
c.2879A>G (p.Asp960Gly)
c.2129-786A>G (n.2129-786A>G)
n.2952A>G
n.3160A>G
c.2369A>G (p.Asp790Gly)
c.1394A>G (p.Asp465Gly)
c.2108A>G (p.Asp703Gly)
c.3086A>G (p.Asp1029Gly)
n.2904A>G
n.3112A>G
1g.197434814A>TCA344043904CRB1c.2951A>T (p.Asp984Val)
c.1832A>T (p.Asp611Val)
c.1094A>T (p.Asp365Val)
c.2615A>T (p.Asp872Val)
c.2879A>T (p.Asp960Val)
c.2129-786A>T (n.2129-786A>T)
n.2952A>T
n.3160A>T
c.2369A>T (p.Asp790Val)
c.1394A>T (p.Asp465Val)
c.2108A>T (p.Asp703Val)
c.3086A>T (p.Asp1029Val)
n.2904A>T
n.3112A>T
 dbSNP gnomAD v3 gnomAD v4
1g.197434815T>ACA344043919CRB1c.2952T>A (p.Asp984Glu)
c.1833T>A (p.Asp611Glu)
c.1095T>A (p.Asp365Glu)
c.2616T>A (p.Asp872Glu)
c.2880T>A (p.Asp960Glu)
c.2129-785T>A (n.2129-785T>A)
n.2953T>A
n.3161T>A
c.2370T>A (p.Asp790Glu)
c.1395T>A (p.Asp465Glu)
c.2109T>A (p.Asp703Glu)
c.3087T>A (p.Asp1029Glu)
n.2905T>A
n.3113T>A
1g.197434815T>CCA422672563CRB1c.2952T>C (p.Asp984=)
c.1833T>C (p.Asp611=)
c.1095T>C (p.Asp365=)
c.2616T>C (p.Asp872=)
c.2880T>C (p.Asp960=)
c.2129-785T>C (n.2129-785T>C)
n.2953T>C
n.3161T>C
c.2370T>C (p.Asp790=)
c.1395T>C (p.Asp465=)
c.2109T>C (p.Asp703=)
c.3087T>C (p.Asp1029=)
n.2905T>C
n.3113T>C
1g.197434815T>GCA344043914CRB1c.2952T>G (p.Asp984Glu)
c.1833T>G (p.Asp611Glu)
c.1095T>G (p.Asp365Glu)
c.2616T>G (p.Asp872Glu)
c.2880T>G (p.Asp960Glu)
c.2129-785T>G (n.2129-785T>G)
n.2953T>G
n.3161T>G
c.2370T>G (p.Asp790Glu)
c.1395T>G (p.Asp465Glu)
c.2109T>G (p.Asp703Glu)
c.3087T>G (p.Asp1029Glu)
n.2905T>G
n.3113T>G
1g.197434816G>ACA344043924CRB1c.2953G>A (p.Ala985Thr)
c.1834G>A (p.Ala612Thr)
c.1096G>A (p.Ala366Thr)
c.2617G>A (p.Ala873Thr)
c.2881G>A (p.Ala961Thr)
c.2129-784G>A (n.2129-784G>A)
n.2954G>A
n.3162G>A
c.2371G>A (p.Ala791Thr)
c.1396G>A (p.Ala466Thr)
c.2110G>A (p.Ala704Thr)
c.3088G>A (p.Ala1030Thr)
n.2906G>A
n.3114G>A
 dbSNP
1g.197434816G>CCA344043926CRB1c.2953G>C (p.Ala985Pro)
c.1834G>C (p.Ala612Pro)
c.1096G>C (p.Ala366Pro)
c.2617G>C (p.Ala873Pro)
c.2881G>C (p.Ala961Pro)
c.2129-784G>C (n.2129-784G>C)
n.2954G>C
n.3162G>C
c.2371G>C (p.Ala791Pro)
c.1396G>C (p.Ala466Pro)
c.2110G>C (p.Ala704Pro)
c.3088G>C (p.Ala1030Pro)
n.2906G>C
n.3114G>C
1g.197434816G=CA1218068678CRB1c.2953G= (p.Ala985=)
c.1834G= (p.Ala612=)
c.1096G= (p.Ala366=)
c.2617G= (p.Ala873=)
c.2881G= (p.Ala961=)
c.2129-784G= (n.2129-784G=)
n.2954G=
n.3162G=
c.2371G= (p.Ala791=)
c.1396G= (p.Ala466=)
c.2110G= (p.Ala704=)
c.3088G= (p.Ala1030=)
n.2906G=
n.3114G=
1g.197434816G>TCA344043930CRB1c.2953G>T (p.Ala985Ser)
c.1834G>T (p.Ala612Ser)
c.1096G>T (p.Ala366Ser)
c.2617G>T (p.Ala873Ser)
c.2881G>T (p.Ala961Ser)
c.2129-784G>T (n.2129-784G>T)
n.2954G>T
n.3162G>T
c.2371G>T (p.Ala791Ser)
c.1396G>T (p.Ala466Ser)
c.2110G>T (p.Ala704Ser)
c.3088G>T (p.Ala1030Ser)
n.2906G>T
n.3114G>T
1g.197434817C>ACA344043935CRB1c.2954C>A (p.Ala985Glu)
c.1835C>A (p.Ala612Glu)
c.1097C>A (p.Ala366Glu)
c.2618C>A (p.Ala873Glu)
c.2882C>A (p.Ala961Glu)
c.2129-783C>A (n.2129-783C>A)
n.2955C>A
n.3163C>A
c.2372C>A (p.Ala791Glu)
c.1397C>A (p.Ala466Glu)
c.2111C>A (p.Ala704Glu)
c.3089C>A (p.Ala1030Glu)
n.2907C>A
n.3115C>A
 gnomAD v4 COSMIC
1g.197434817C>GCA344043939CRB1c.2954C>G (p.Ala985Gly)
c.1835C>G (p.Ala612Gly)
c.1097C>G (p.Ala366Gly)
c.2618C>G (p.Ala873Gly)
c.2882C>G (p.Ala961Gly)
c.2129-783C>G (n.2129-783C>G)
n.2955C>G
n.3163C>G
c.2372C>G (p.Ala791Gly)
c.1397C>G (p.Ala466Gly)
c.2111C>G (p.Ala704Gly)
c.3089C>G (p.Ala1030Gly)
n.2907C>G
n.3115C>G
1g.197434817C>TCA344043942CRB1c.2954C>T (p.Ala985Val)
c.1835C>T (p.Ala612Val)
c.1097C>T (p.Ala366Val)
c.2618C>T (p.Ala873Val)
c.2882C>T (p.Ala961Val)
c.2129-783C>T (n.2129-783C>T)
n.2955C>T
n.3163C>T
c.2372C>T (p.Ala791Val)
c.1397C>T (p.Ala466Val)
c.2111C>T (p.Ala704Val)
c.3089C>T (p.Ala1030Val)
n.2907C>T
n.3115C>T
1g.197434818A=CA1218068679CRB1c.2955A= (p.Ala985=)
c.1836A= (p.Ala612=)
c.1098A= (p.Ala366=)
c.2619A= (p.Ala873=)
c.2883A= (p.Ala961=)
c.2129-782A= (n.2129-782A=)
n.2956A=
n.3164A=
c.2373A= (p.Ala791=)
c.1398A= (p.Ala466=)
c.2112A= (p.Ala704=)
c.3090A= (p.Ala1030=)
n.2908A=
n.3116A=
1g.197434818A>CCA422672564CRB1c.2955A>C (p.Ala985=)
c.1836A>C (p.Ala612=)
c.1098A>C (p.Ala366=)
c.2619A>C (p.Ala873=)
c.2883A>C (p.Ala961=)
c.2129-782A>C (n.2129-782A>C)
n.2956A>C
n.3164A>C
c.2373A>C (p.Ala791=)
c.1398A>C (p.Ala466=)
c.2112A>C (p.Ala704=)
c.3090A>C (p.Ala1030=)
n.2908A>C
n.3116A>C
1g.197434818A>GCA422672566CRB1c.2955A>G (p.Ala985=)
c.1836A>G (p.Ala612=)
c.1098A>G (p.Ala366=)
c.2619A>G (p.Ala873=)
c.2883A>G (p.Ala961=)
c.2129-782A>G (n.2129-782A>G)
n.2956A>G
n.3164A>G
c.2373A>G (p.Ala791=)
c.1398A>G (p.Ala466=)
c.2112A>G (p.Ala704=)
c.3090A>G (p.Ala1030=)
n.2908A>G
n.3116A>G
 dbSNP
1g.197434818A>TCA422672565CRB1c.2955A>T (p.Ala985=)
c.1836A>T (p.Ala612=)
c.1098A>T (p.Ala366=)
c.2619A>T (p.Ala873=)
c.2883A>T (p.Ala961=)
c.2129-782A>T (n.2129-782A>T)
n.2956A>T
n.3164A>T
c.2373A>T (p.Ala791=)
c.1398A>T (p.Ala466=)
c.2112A>T (p.Ala704=)
c.3090A>T (p.Ala1030=)
n.2908A>T
n.3116A>T
 gnomAD v4
1g.197434818_197434819insGACA2580061837CRB1c.2955_2956insGA (p.Asn986GlufsTer3)
c.1836_1837insGA (p.Asn613GlufsTer3)
c.1098_1099insGA (p.Asn367GlufsTer3)
c.2619_2620insGA (p.Asn874GlufsTer3)
c.2883_2884insGA (p.Asn962GlufsTer3)
c.2129-782_2129-781insGA (n.2129-782_2129-781insGA)
n.2956_2957insGA
n.3164_3165insGA
c.2373_2374insGA (p.Asn792GlufsTer3)
c.1398_1399insGA (p.Asn467GlufsTer3)
c.2112_2113insGA (p.Asn705GlufsTer3)
c.3090_3091insGA (p.Asn1031GlufsTer3)
n.2908_2909insGA
n.3116_3117insGA
 ClinVar gnomAD v4
1g.197434819A=CA1218068680CRB1c.2956A= (p.Asn986=)
c.1837A= (p.Asn613=)
c.1099A= (p.Asn367=)
c.2620A= (p.Asn874=)
c.2884A= (p.Asn962=)
c.2129-781A= (n.2129-781A=)
n.2957A=
n.3165A=
c.2374A= (p.Asn792=)
c.1399A= (p.Asn467=)
c.2113A= (p.Asn705=)
c.3091A= (p.Asn1031=)
n.2909A=
n.3117A=
1g.197434819A>CCA344043951CRB1c.2956A>C (p.Asn986His)
c.1837A>C (p.Asn613His)
c.1099A>C (p.Asn367His)
c.2620A>C (p.Asn874His)
c.2884A>C (p.Asn962His)
c.2129-781A>C (n.2129-781A>C)
n.2957A>C
n.3165A>C
c.2374A>C (p.Asn792His)
c.1399A>C (p.Asn467His)
c.2113A>C (p.Asn705His)
c.3091A>C (p.Asn1031His)
n.2909A>C
n.3117A>C
1g.197434819A>GCA344043947CRB1c.2956A>G (p.Asn986Asp)
c.1837A>G (p.Asn613Asp)
c.1099A>G (p.Asn367Asp)
c.2620A>G (p.Asn874Asp)
c.2884A>G (p.Asn962Asp)
c.2129-781A>G (n.2129-781A>G)
n.2957A>G
n.3165A>G
c.2374A>G (p.Asn792Asp)
c.1399A>G (p.Asn467Asp)
c.2113A>G (p.Asn705Asp)
c.3091A>G (p.Asn1031Asp)
n.2909A>G
n.3117A>G
1g.197434819A>TCA344043949CRB1c.2956A>T (p.Asn986Tyr)
c.1837A>T (p.Asn613Tyr)
c.1099A>T (p.Asn367Tyr)
c.2620A>T (p.Asn874Tyr)
c.2884A>T (p.Asn962Tyr)
c.2129-781A>T (n.2129-781A>T)
n.2957A>T
n.3165A>T
c.2374A>T (p.Asn792Tyr)
c.1399A>T (p.Asn467Tyr)
c.2113A>T (p.Asn705Tyr)
c.3091A>T (p.Asn1031Tyr)
n.2909A>T
n.3117A>T
 ClinVar dbSNP
1g.197434820A>CCA344043954CRB1c.2957A>C (p.Asn986Thr)
c.1838A>C (p.Asn613Thr)
c.1100A>C (p.Asn367Thr)
c.2621A>C (p.Asn874Thr)
c.2885A>C (p.Asn962Thr)
c.2129-780A>C (n.2129-780A>C)
n.2958A>C
n.3166A>C
c.2375A>C (p.Asn792Thr)
c.1400A>C (p.Asn467Thr)
c.2114A>C (p.Asn705Thr)
c.3092A>C (p.Asn1031Thr)
n.2910A>C
n.3118A>C
1g.197434820A>GCA344043958CRB1c.2957A>G (p.Asn986Ser)
c.1838A>G (p.Asn613Ser)
c.1100A>G (p.Asn367Ser)
c.2621A>G (p.Asn874Ser)
c.2885A>G (p.Asn962Ser)
c.2129-780A>G (n.2129-780A>G)
n.2958A>G
n.3166A>G
c.2375A>G (p.Asn792Ser)
c.1400A>G (p.Asn467Ser)
c.2114A>G (p.Asn705Ser)
c.3092A>G (p.Asn1031Ser)
n.2910A>G
n.3118A>G
1g.197434820A>TCA344043959CRB1c.2957A>T (p.Asn986Ile)
c.1838A>T (p.Asn613Ile)
c.1100A>T (p.Asn367Ile)
c.2621A>T (p.Asn874Ile)
c.2885A>T (p.Asn962Ile)
c.2129-780A>T (n.2129-780A>T)
n.2958A>T
n.3166A>T
c.2375A>T (p.Asn792Ile)
c.1400A>T (p.Asn467Ile)
c.2114A>T (p.Asn705Ile)
c.3092A>T (p.Asn1031Ile)
n.2910A>T
n.3118A>T
1g.197434821T>ACA344043960CRB1c.2958T>A (p.Asn986Lys)
c.1839T>A (p.Asn613Lys)
c.1101T>A (p.Asn367Lys)
c.2622T>A (p.Asn874Lys)
c.2886T>A (p.Asn962Lys)
c.2129-779T>A (n.2129-779T>A)
n.2959T>A
n.3167T>A
c.2376T>A (p.Asn792Lys)
c.1401T>A (p.Asn467Lys)
c.2115T>A (p.Asn705Lys)
c.3093T>A (p.Asn1031Lys)
n.2911T>A
n.3119T>A
1g.197434821T>CCA422672567CRB1c.2958T>C (p.Asn986=)
c.1839T>C (p.Asn613=)
c.1101T>C (p.Asn367=)
c.2622T>C (p.Asn874=)
c.2886T>C (p.Asn962=)
c.2129-779T>C (n.2129-779T>C)
n.2959T>C
n.3167T>C
c.2376T>C (p.Asn792=)
c.1401T>C (p.Asn467=)
c.2115T>C (p.Asn705=)
c.3093T>C (p.Asn1031=)
n.2911T>C
n.3119T>C
 ClinVar dbSNP
1g.197434821T>GCA344043961CRB1c.2958T>G (p.Asn986Lys)
c.1839T>G (p.Asn613Lys)
c.1101T>G (p.Asn367Lys)
c.2622T>G (p.Asn874Lys)
c.2886T>G (p.Asn962Lys)
c.2129-779T>G (n.2129-779T>G)
n.2959T>G
n.3167T>G
c.2376T>G (p.Asn792Lys)
c.1401T>G (p.Asn467Lys)
c.2115T>G (p.Asn705Lys)
c.3093T>G (p.Asn1031Lys)
n.2911T>G
n.3119T>G
 gnomAD v4
1g.197434821T=CA1218068681CRB1c.2958T= (p.Asn986=)
c.1839T= (p.Asn613=)
c.1101T= (p.Asn367=)
c.2622T= (p.Asn874=)
c.2886T= (p.Asn962=)
c.2129-779T= (n.2129-779T=)
n.2959T=
n.3167T=
c.2376T= (p.Asn792=)
c.1401T= (p.Asn467=)
c.2115T= (p.Asn705=)
c.3093T= (p.Asn1031=)
n.2911T=
n.3119T=
1g.197434822G>ACA344043981CRB1c.2959G>A (p.Val987Ile)
c.1840G>A (p.Val614Ile)
c.1102G>A (p.Val368Ile)
c.2623G>A (p.Val875Ile)
c.2887G>A (p.Val963Ile)
c.2129-778G>A (n.2129-778G>A)
n.2960G>A
n.3168G>A
c.2377G>A (p.Val793Ile)
c.1402G>A (p.Val468Ile)
c.2116G>A (p.Val706Ile)
c.3094G>A (p.Val1032Ile)
n.2912G>A
n.3120G>A
1g.197434822G>CCA344043968CRB1c.2959G>C (p.Val987Leu)
c.1840G>C (p.Val614Leu)
c.1102G>C (p.Val368Leu)
c.2623G>C (p.Val875Leu)
c.2887G>C (p.Val963Leu)
c.2129-778G>C (n.2129-778G>C)
n.2960G>C
n.3168G>C
c.2377G>C (p.Val793Leu)
c.1402G>C (p.Val468Leu)
c.2116G>C (p.Val706Leu)
c.3094G>C (p.Val1032Leu)
n.2912G>C
n.3120G>C
1g.197434822G>TCA344043976CRB1c.2959G>T (p.Val987Leu)
c.1840G>T (p.Val614Leu)
c.1102G>T (p.Val368Leu)
c.2623G>T (p.Val875Leu)
c.2887G>T (p.Val963Leu)
c.2129-778G>T (n.2129-778G>T)
n.2960G>T
n.3168G>T
c.2377G>T (p.Val793Leu)
c.1402G>T (p.Val468Leu)
c.2116G>T (p.Val706Leu)
c.3094G>T (p.Val1032Leu)
n.2912G>T
n.3120G>T
1g.197434823T>ACA344043990CRB1c.2960T>A (p.Val987Glu)
c.1841T>A (p.Val614Glu)
c.1103T>A (p.Val368Glu)
c.2624T>A (p.Val875Glu)
c.2888T>A (p.Val963Glu)
c.2129-777T>A (n.2129-777T>A)
n.2961T>A
n.3169T>A
c.2378T>A (p.Val793Glu)
c.1403T>A (p.Val468Glu)
c.2117T>A (p.Val706Glu)
c.3095T>A (p.Val1032Glu)
n.2913T>A
n.3121T>A
1g.197434823T>CCA344044004CRB1c.2960T>C (p.Val987Ala)
c.1841T>C (p.Val614Ala)
c.1103T>C (p.Val368Ala)
c.2624T>C (p.Val875Ala)
c.2888T>C (p.Val963Ala)
c.2129-777T>C (n.2129-777T>C)
n.2961T>C
n.3169T>C
c.2378T>C (p.Val793Ala)
c.1403T>C (p.Val468Ala)
c.2117T>C (p.Val706Ala)
c.3095T>C (p.Val1032Ala)
n.2913T>C
n.3121T>C
1g.197434823T>GCA344044010CRB1c.2960T>G (p.Val987Gly)
c.1841T>G (p.Val614Gly)
c.1103T>G (p.Val368Gly)
c.2624T>G (p.Val875Gly)
c.2888T>G (p.Val963Gly)
c.2129-777T>G (n.2129-777T>G)
n.2961T>G
n.3169T>G
c.2378T>G (p.Val793Gly)
c.1403T>G (p.Val468Gly)
c.2117T>G (p.Val706Gly)
c.3095T>G (p.Val1032Gly)
n.2913T>G
n.3121T>G
1g.197434824A>CCA422672568CRB1c.2961A>C (p.Val987=)
c.1842A>C (p.Val614=)
c.1104A>C (p.Val368=)
c.2625A>C (p.Val875=)
c.2889A>C (p.Val963=)
c.2129-776A>C (n.2129-776A>C)
n.2962A>C
n.3170A>C
c.2379A>C (p.Val793=)
c.1404A>C (p.Val468=)
c.2118A>C (p.Val706=)
c.3096A>C (p.Val1032=)
n.2914A>C
n.3122A>C
 gnomAD v4
1g.197434824A>GCA422672569CRB1c.2961A>G (p.Val987=)
c.1842A>G (p.Val614=)
c.1104A>G (p.Val368=)
c.2625A>G (p.Val875=)
c.2889A>G (p.Val963=)
c.2129-776A>G (n.2129-776A>G)
n.2962A>G
n.3170A>G
c.2379A>G (p.Val793=)
c.1404A>G (p.Val468=)
c.2118A>G (p.Val706=)
c.3096A>G (p.Val1032=)
n.2914A>G
n.3122A>G
 ClinVar gnomAD v4
1g.197434824A>TCA422672570CRB1c.2961A>T (p.Val987=)
c.1842A>T (p.Val614=)
c.1104A>T (p.Val368=)
c.2625A>T (p.Val875=)
c.2889A>T (p.Val963=)
c.2129-776A>T (n.2129-776A>T)
n.2962A>T
n.3170A>T
c.2379A>T (p.Val793=)
c.1404A>T (p.Val468=)
c.2118A>T (p.Val706=)
c.3096A>T (p.Val1032=)
n.2914A>T
n.3122A>T
1g.197434825A=CA1218068682CRB1c.2962A= (p.Ile988=)
c.1843A= (p.Ile615=)
c.1105A= (p.Ile369=)
c.2626A= (p.Ile876=)
c.2890A= (p.Ile964=)
c.2129-775A= (n.2129-775A=)
n.2963A=
n.3171A=
c.2380A= (p.Ile794=)
c.1405A= (p.Ile469=)
c.2119A= (p.Ile707=)
c.3097A= (p.Ile1033=)
n.2915A=
n.3123A=
1g.197434825A>CCA344044012CRB1c.2962A>C (p.Ile988Leu)
c.1843A>C (p.Ile615Leu)
c.1105A>C (p.Ile369Leu)
c.2626A>C (p.Ile876Leu)
c.2890A>C (p.Ile964Leu)
c.2129-775A>C (n.2129-775A>C)
n.2963A>C
n.3171A>C
c.2380A>C (p.Ile794Leu)
c.1405A>C (p.Ile469Leu)
c.2119A>C (p.Ile707Leu)
c.3097A>C (p.Ile1033Leu)
n.2915A>C
n.3123A>C
1g.197434825A>GCA344044013CRB1c.2962A>G (p.Ile988Val)
c.1843A>G (p.Ile615Val)
c.1105A>G (p.Ile369Val)
c.2626A>G (p.Ile876Val)
c.2890A>G (p.Ile964Val)
c.2129-775A>G (n.2129-775A>G)
n.2963A>G
n.3171A>G
c.2380A>G (p.Ile794Val)
c.1405A>G (p.Ile469Val)
c.2119A>G (p.Ile707Val)
c.3097A>G (p.Ile1033Val)
n.2915A>G
n.3123A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197434825A>TCA344044014CRB1c.2962A>T (p.Ile988Leu)
c.1843A>T (p.Ile615Leu)
c.1105A>T (p.Ile369Leu)
c.2626A>T (p.Ile876Leu)
c.2890A>T (p.Ile964Leu)
c.2129-775A>T (n.2129-775A>T)
n.2963A>T
n.3171A>T
c.2380A>T (p.Ile794Leu)
c.1405A>T (p.Ile469Leu)
c.2119A>T (p.Ile707Leu)
c.3097A>T (p.Ile1033Leu)
n.2915A>T
n.3123A>T
1g.197434826T>ACA344044019CRB1c.2963T>A (p.Ile988Lys)
c.1844T>A (p.Ile615Lys)
c.1106T>A (p.Ile369Lys)
c.2627T>A (p.Ile876Lys)
c.2891T>A (p.Ile964Lys)
c.2129-774T>A (n.2129-774T>A)
n.2964T>A
n.3172T>A
c.2381T>A (p.Ile794Lys)
c.1406T>A (p.Ile469Lys)
c.2120T>A (p.Ile707Lys)
c.3098T>A (p.Ile1033Lys)
n.2916T>A
n.3124T>A
1g.197434826T>CCA344044022CRB1c.2963T>C (p.Ile988Thr)
c.1844T>C (p.Ile615Thr)
c.1106T>C (p.Ile369Thr)
c.2627T>C (p.Ile876Thr)
c.2891T>C (p.Ile964Thr)
c.2129-774T>C (n.2129-774T>C)
n.2964T>C
n.3172T>C
c.2381T>C (p.Ile794Thr)
c.1406T>C (p.Ile469Thr)
c.2120T>C (p.Ile707Thr)
c.3098T>C (p.Ile1033Thr)
n.2916T>C
n.3124T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197434826T>GCA344044028CRB1c.2963T>G (p.Ile988Arg)
c.1844T>G (p.Ile615Arg)
c.1106T>G (p.Ile369Arg)
c.2627T>G (p.Ile876Arg)
c.2891T>G (p.Ile964Arg)
c.2129-774T>G (n.2129-774T>G)
n.2964T>G
n.3172T>G
c.2381T>G (p.Ile794Arg)
c.1406T>G (p.Ile469Arg)
c.2120T>G (p.Ile707Arg)
c.3098T>G (p.Ile1033Arg)
n.2916T>G
n.3124T>G
1g.197434826T=CA1218068683CRB1c.2963T= (p.Ile988=)
c.1844T= (p.Ile615=)
c.1106T= (p.Ile369=)
c.2627T= (p.Ile876=)
c.2891T= (p.Ile964=)
c.2129-774T= (n.2129-774T=)
n.2964T=
n.3172T=
c.2381T= (p.Ile794=)
c.1406T= (p.Ile469=)
c.2120T= (p.Ile707=)
c.3098T= (p.Ile1033=)
n.2916T=
n.3124T=
1g.197434827A>CCA422672571CRB1c.2964A>C (p.Ile988=)
c.1845A>C (p.Ile615=)
c.1107A>C (p.Ile369=)
c.2628A>C (p.Ile876=)
c.2892A>C (p.Ile964=)
c.2129-773A>C (n.2129-773A>C)
n.2965A>C
n.3173A>C
c.2382A>C (p.Ile794=)
c.1407A>C (p.Ile469=)
c.2121A>C (p.Ile707=)
c.3099A>C (p.Ile1033=)
n.2917A>C
n.3125A>C
 COSMIC COSMIC
1g.197434827A>GCA344044037CRB1c.2964A>G (p.Ile988Met)
c.1845A>G (p.Ile615Met)
c.1107A>G (p.Ile369Met)
c.2628A>G (p.Ile876Met)
c.2892A>G (p.Ile964Met)
c.2129-773A>G (n.2129-773A>G)
n.2965A>G
n.3173A>G
c.2382A>G (p.Ile794Met)
c.1407A>G (p.Ile469Met)
c.2121A>G (p.Ile707Met)
c.3099A>G (p.Ile1033Met)
n.2917A>G
n.3125A>G
1g.197434827A>TCA422672572CRB1c.2964A>T (p.Ile988=)
c.1845A>T (p.Ile615=)
c.1107A>T (p.Ile369=)
c.2628A>T (p.Ile876=)
c.2892A>T (p.Ile964=)
c.2129-773A>T (n.2129-773A>T)
n.2965A>T
n.3173A>T
c.2382A>T (p.Ile794=)
c.1407A>T (p.Ile469=)
c.2121A>T (p.Ile707=)
c.3099A>T (p.Ile1033=)
n.2917A>T
n.3125A>T
1g.197434828A=CA1218068684CRB1c.2965A= (p.Ile989=)
c.1846A= (p.Ile616=)
c.1108A= (p.Ile370=)
c.2629A= (p.Ile877=)
c.2893A= (p.Ile965=)
c.2129-772A= (n.2129-772A=)
n.2966A=
n.3174A=
c.2383A= (p.Ile795=)
c.1408A= (p.Ile470=)
c.2122A= (p.Ile708=)
c.3100A= (p.Ile1034=)
n.2918A=
n.3126A=
1g.197434828A>CCA344044049CRB1c.2965A>C (p.Ile989Leu)
c.1846A>C (p.Ile616Leu)
c.1108A>C (p.Ile370Leu)
c.2629A>C (p.Ile877Leu)
c.2893A>C (p.Ile965Leu)
c.2129-772A>C (n.2129-772A>C)
n.2966A>C
n.3174A>C
c.2383A>C (p.Ile795Leu)
c.1408A>C (p.Ile470Leu)
c.2122A>C (p.Ile708Leu)
c.3100A>C (p.Ile1034Leu)
n.2918A>C
n.3126A>C
 gnomAD v4
1g.197434828A>GCA344044050CRB1c.2965A>G (p.Ile989Val)
c.1846A>G (p.Ile616Val)
c.1108A>G (p.Ile370Val)
c.2629A>G (p.Ile877Val)
c.2893A>G (p.Ile965Val)
c.2129-772A>G (n.2129-772A>G)
n.2966A>G
n.3174A>G
c.2383A>G (p.Ile795Val)
c.1408A>G (p.Ile470Val)
c.2122A>G (p.Ile708Val)
c.3100A>G (p.Ile1034Val)
n.2918A>G
n.3126A>G
 dbSNP gnomAD v3 gnomAD v4
1g.197434828A>TCA344044059CRB1c.2965A>T (p.Ile989Leu)
c.1846A>T (p.Ile616Leu)
c.1108A>T (p.Ile370Leu)
c.2629A>T (p.Ile877Leu)
c.2893A>T (p.Ile965Leu)
c.2129-772A>T (n.2129-772A>T)
n.2966A>T
n.3174A>T
c.2383A>T (p.Ile795Leu)
c.1408A>T (p.Ile470Leu)
c.2122A>T (p.Ile708Leu)
c.3100A>T (p.Ile1034Leu)
n.2918A>T
n.3126A>T
1g.197434829T>ACA344044075CRB1c.2966T>A (p.Ile989Lys)
c.1847T>A (p.Ile616Lys)
c.1109T>A (p.Ile370Lys)
c.2630T>A (p.Ile877Lys)
c.2894T>A (p.Ile965Lys)
c.2129-771T>A (n.2129-771T>A)
n.2967T>A
n.3175T>A
c.2384T>A (p.Ile795Lys)
c.1409T>A (p.Ile470Lys)
c.2123T>A (p.Ile708Lys)
c.3101T>A (p.Ile1034Lys)
n.2919T>A
n.3127T>A
1g.197434829T>CCA344044069CRB1c.2966T>C (p.Ile989Thr)
c.1847T>C (p.Ile616Thr)
c.1109T>C (p.Ile370Thr)
c.2630T>C (p.Ile877Thr)
c.2894T>C (p.Ile965Thr)
c.2129-771T>C (n.2129-771T>C)
n.2967T>C
n.3175T>C
c.2384T>C (p.Ile795Thr)
c.1409T>C (p.Ile470Thr)
c.2123T>C (p.Ile708Thr)
c.3101T>C (p.Ile1034Thr)
n.2919T>C
n.3127T>C
 ClinVar
1g.197434829T>GCA344044073CRB1c.2966T>G (p.Ile989Arg)
c.1847T>G (p.Ile616Arg)
c.1109T>G (p.Ile370Arg)
c.2630T>G (p.Ile877Arg)
c.2894T>G (p.Ile965Arg)
c.2129-771T>G (n.2129-771T>G)
n.2967T>G
n.3175T>G
c.2384T>G (p.Ile795Arg)
c.1409T>G (p.Ile470Arg)
c.2123T>G (p.Ile708Arg)
c.3101T>G (p.Ile1034Arg)
n.2919T>G
n.3127T>G
1g.197434830A>CCA422672573CRB1c.2967A>C (p.Ile989=)
c.1848A>C (p.Ile616=)
c.1110A>C (p.Ile370=)
c.2631A>C (p.Ile877=)
c.2895A>C (p.Ile965=)
c.2129-770A>C (n.2129-770A>C)
n.2968A>C
n.3176A>C
c.2385A>C (p.Ile795=)
c.1410A>C (p.Ile470=)
c.2124A>C (p.Ile708=)
c.3102A>C (p.Ile1034=)
n.2920A>C
n.3128A>C
1g.197434830A>GCA344044077CRB1c.2967A>G (p.Ile989Met)
c.1848A>G (p.Ile616Met)
c.1110A>G (p.Ile370Met)
c.2631A>G (p.Ile877Met)
c.2895A>G (p.Ile965Met)
c.2129-770A>G (n.2129-770A>G)
n.2968A>G
n.3176A>G
c.2385A>G (p.Ile795Met)
c.1410A>G (p.Ile470Met)
c.2124A>G (p.Ile708Met)
c.3102A>G (p.Ile1034Met)
n.2920A>G
n.3128A>G
1g.197434830A>TCA422672574CRB1c.2967A>T (p.Ile989=)
c.1848A>T (p.Ile616=)
c.1110A>T (p.Ile370=)
c.2631A>T (p.Ile877=)
c.2895A>T (p.Ile965=)
c.2129-770A>T (n.2129-770A>T)
n.2968A>T
n.3176A>T
c.2385A>T (p.Ile795=)
c.1410A>T (p.Ile470=)
c.2124A>T (p.Ile708=)
c.3102A>T (p.Ile1034=)
n.2920A>T
n.3128A>T
 ClinVar
1g.197434831T>ACA1312252CRB1c.2968T>A (p.Leu990Met)
c.1849T>A (p.Leu617Met)
c.1111T>A (p.Leu371Met)
c.2632T>A (p.Leu878Met)
c.2896T>A (p.Leu966Met)
c.2129-769T>A (n.2129-769T>A)
n.2969T>A
n.3177T>A
c.2386T>A (p.Leu796Met)
c.1411T>A (p.Leu471Met)
c.2125T>A (p.Leu709Met)
c.3103T>A (p.Leu1035Met)
n.2921T>A
n.3129T>A
 dbSNP ExAC gnomAD v2
1g.197434831T>CCA422672575CRB1c.2968T>C (p.Leu990=)
c.1849T>C (p.Leu617=)
c.1111T>C (p.Leu371=)
c.2632T>C (p.Leu878=)
c.2896T>C (p.Leu966=)
c.2129-769T>C (n.2129-769T>C)
n.2969T>C
n.3177T>C
c.2386T>C (p.Leu796=)
c.1411T>C (p.Leu471=)
c.2125T>C (p.Leu709=)
c.3103T>C (p.Leu1035=)
n.2921T>C
n.3129T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197434831T>GCA344044091CRB1c.2968T>G (p.Leu990Val)
c.1849T>G (p.Leu617Val)
c.1111T>G (p.Leu371Val)
c.2632T>G (p.Leu878Val)
c.2896T>G (p.Leu966Val)
c.2129-769T>G (n.2129-769T>G)
n.2969T>G
n.3177T>G
c.2386T>G (p.Leu796Val)
c.1411T>G (p.Leu471Val)
c.2125T>G (p.Leu709Val)
c.3103T>G (p.Leu1035Val)
n.2921T>G
n.3129T>G
1g.197434831T=CA1218068685CRB1c.2968T= (p.Leu990=)
c.1849T= (p.Leu617=)
c.1111T= (p.Leu371=)
c.2632T= (p.Leu878=)
c.2896T= (p.Leu966=)
c.2129-769T= (n.2129-769T=)
n.2969T=
n.3177T=
c.2386T= (p.Leu796=)
c.1411T= (p.Leu471=)
c.2125T= (p.Leu709=)
c.3103T= (p.Leu1035=)
n.2921T=
n.3129T=
1g.197434832delCA2649670638CRB1c.2969del (p.Leu990CysfsTer?)
c.1850del (p.Leu617CysfsTer?)
c.1112del (p.Leu371CysfsTer?)
c.2633del (p.Leu878CysfsTer?)
c.2897del (p.Leu966CysfsTer?)
c.2129-768del (n.2129-768del)
n.2970del
n.3178del
c.2387del (p.Leu796CysfsTer?)
c.1412del (p.Leu471CysfsTer?)
c.2126del (p.Leu709CysfsTer?)
c.3104del (p.Leu1035CysfsTer?)
n.2922del
n.3130del
 ClinVar gnomAD v4
1g.197434832T>ACA344044098CRB1c.2969T>A (p.Leu990Ter)
c.1850T>A (p.Leu617Ter)
c.1112T>A (p.Leu371Ter)
c.2633T>A (p.Leu878Ter)
c.2897T>A (p.Leu966Ter)
c.2129-768T>A (n.2129-768T>A)
n.2970T>A
n.3178T>A
c.2387T>A (p.Leu796Ter)
c.1412T>A (p.Leu471Ter)
c.2126T>A (p.Leu709Ter)
c.3104T>A (p.Leu1035Ter)
n.2922T>A
n.3130T>A
1g.197434832T>CCA344044102CRB1c.2969T>C (p.Leu990Ser)
c.1850T>C (p.Leu617Ser)
c.1112T>C (p.Leu371Ser)
c.2633T>C (p.Leu878Ser)
c.2897T>C (p.Leu966Ser)
c.2129-768T>C (n.2129-768T>C)
n.2970T>C
n.3178T>C
c.2387T>C (p.Leu796Ser)
c.1412T>C (p.Leu471Ser)
c.2126T>C (p.Leu709Ser)
c.3104T>C (p.Leu1035Ser)
n.2922T>C
n.3130T>C
 dbSNP
1g.197434832T>GCA344044110CRB1c.2969T>G (p.Leu990Trp)
c.1850T>G (p.Leu617Trp)
c.1112T>G (p.Leu371Trp)
c.2633T>G (p.Leu878Trp)
c.2897T>G (p.Leu966Trp)
c.2129-768T>G (n.2129-768T>G)
n.2970T>G
n.3178T>G
c.2387T>G (p.Leu796Trp)
c.1412T>G (p.Leu471Trp)
c.2126T>G (p.Leu709Trp)
c.3104T>G (p.Leu1035Trp)
n.2922T>G
n.3130T>G
1g.197434832T=CA1218068686CRB1c.2969T= (p.Leu990=)
c.1850T= (p.Leu617=)
c.1112T= (p.Leu371=)
c.2633T= (p.Leu878=)
c.2897T= (p.Leu966=)
c.2129-768T= (n.2129-768T=)
n.2970T=
n.3178T=
c.2387T= (p.Leu796=)
c.1412T= (p.Leu471=)
c.2126T= (p.Leu709=)
c.3104T= (p.Leu1035=)
n.2922T=
n.3130T=
1g.197434833G>ACA422672576CRB1c.2970G>A (p.Leu990=)
c.1851G>A (p.Leu617=)
c.1113G>A (p.Leu371=)
c.2634G>A (p.Leu878=)
c.2898G>A (p.Leu966=)
c.2129-767G>A (n.2129-767G>A)
n.2971G>A
n.3179G>A
c.2388G>A (p.Leu796=)
c.1413G>A (p.Leu471=)
c.2127G>A (p.Leu709=)
c.3105G>A (p.Leu1035=)
n.2923G>A
n.3131G>A
1g.197434833G>CCA344044115CRB1c.2970G>C (p.Leu990Phe)
c.1851G>C (p.Leu617Phe)
c.1113G>C (p.Leu371Phe)
c.2634G>C (p.Leu878Phe)
c.2898G>C (p.Leu966Phe)
c.2129-767G>C (n.2129-767G>C)
n.2971G>C
n.3179G>C
c.2388G>C (p.Leu796Phe)
c.1413G>C (p.Leu471Phe)
c.2127G>C (p.Leu709Phe)
c.3105G>C (p.Leu1035Phe)
n.2923G>C
n.3131G>C
1g.197434833G>TCA344044130CRB1c.2970G>T (p.Leu990Phe)
c.1851G>T (p.Leu617Phe)
c.1113G>T (p.Leu371Phe)
c.2634G>T (p.Leu878Phe)
c.2898G>T (p.Leu966Phe)
c.2129-767G>T (n.2129-767G>T)
n.2971G>T
n.3179G>T
c.2388G>T (p.Leu796Phe)
c.1413G>T (p.Leu471Phe)
c.2127G>T (p.Leu709Phe)
c.3105G>T (p.Leu1035Phe)
n.2923G>T
n.3131G>T
1g.197434833_197434834delinsTTCA2580061838CRB1c.2970_2971delinsTT (p.Leu990_His991delinsPheTyr)
c.1851_1852delinsTT (p.Leu617_His618delinsPheTyr)
c.1113_1114delinsTT (p.Leu371_His372delinsPheTyr)
c.2634_2635delinsTT (p.Leu878_His879delinsPheTyr)
c.2898_2899delinsTT (p.Leu966_His967delinsPheTyr)
c.2129-767_2129-766delinsTT (n.2129-767_2129-766delinsTT)
n.2971_2972delinsTT
n.3179_3180delinsTT
c.2388_2389delinsTT (p.Leu796_His797delinsPheTyr)
c.1413_1414delinsTT (p.Leu471_His472delinsPheTyr)
c.2127_2128delinsTT (p.Leu709_His710delinsPheTyr)
c.3105_3106delinsTT (p.Leu1035_His1036delinsPheTyr)
n.2923_2924delinsTT
n.3131_3132delinsTT
 ClinVar dbSNP
1g.197434834C>ACA344044136CRB1c.2971C>A (p.His991Asn)
c.1852C>A (p.His618Asn)
c.1114C>A (p.His372Asn)
c.2635C>A (p.His879Asn)
c.2899C>A (p.His967Asn)
c.2129-766C>A (n.2129-766C>A)
n.2972C>A
n.3180C>A
c.2389C>A (p.His797Asn)
c.1414C>A (p.His472Asn)
c.2128C>A (p.His710Asn)
c.3106C>A (p.His1036Asn)
n.2924C>A
n.3132C>A
1g.197434834C>GCA344044140CRB1c.2971C>G (p.His991Asp)
c.1852C>G (p.His618Asp)
c.1114C>G (p.His372Asp)
c.2635C>G (p.His879Asp)
c.2899C>G (p.His967Asp)
c.2129-766C>G (n.2129-766C>G)
n.2972C>G
n.3180C>G
c.2389C>G (p.His797Asp)
c.1414C>G (p.His472Asp)
c.2128C>G (p.His710Asp)
c.3106C>G (p.His1036Asp)
n.2924C>G
n.3132C>G
1g.197434834C>TCA344044142CRB1c.2971C>T (p.His991Tyr)
c.1852C>T (p.His618Tyr)
c.1114C>T (p.His372Tyr)
c.2635C>T (p.His879Tyr)
c.2899C>T (p.His967Tyr)
c.2129-766C>T (n.2129-766C>T)
n.2972C>T
n.3180C>T
c.2389C>T (p.His797Tyr)
c.1414C>T (p.His472Tyr)
c.2128C>T (p.His710Tyr)
c.3106C>T (p.His1036Tyr)
n.2924C>T
n.3132C>T
1g.197434835A=CA1218068687CRB1c.2972A= (p.His991=)
c.1853A= (p.His618=)
c.1115A= (p.His372=)
c.2636A= (p.His879=)
c.2900A= (p.His967=)
c.2129-765A= (n.2129-765A=)
n.2973A=
n.3181A=
c.2390A= (p.His797=)
c.1415A= (p.His472=)
c.2129A= (p.His710=)
c.3107A= (p.His1036=)
n.2925A=
n.3133A=
1g.197434835A>CCA344044146CRB1c.2972A>C (p.His991Pro)
c.1853A>C (p.His618Pro)
c.1115A>C (p.His372Pro)
c.2636A>C (p.His879Pro)
c.2900A>C (p.His967Pro)
c.2129-765A>C (n.2129-765A>C)
n.2973A>C
n.3181A>C
c.2390A>C (p.His797Pro)
c.1415A>C (p.His472Pro)
c.2129A>C (p.His710Pro)
c.3107A>C (p.His1036Pro)
n.2925A>C
n.3133A>C
1g.197434835A>GCA344044151CRB1c.2972A>G (p.His991Arg)
c.1853A>G (p.His618Arg)
c.1115A>G (p.His372Arg)
c.2636A>G (p.His879Arg)
c.2900A>G (p.His967Arg)
c.2129-765A>G (n.2129-765A>G)
n.2973A>G
n.3181A>G
c.2390A>G (p.His797Arg)
c.1415A>G (p.His472Arg)
c.2129A>G (p.His710Arg)
c.3107A>G (p.His1036Arg)
n.2925A>G
n.3133A>G
 gnomAD v4
1g.197434835A>TCA344044152CRB1c.2972A>T (p.His991Leu)
c.1853A>T (p.His618Leu)
c.1115A>T (p.His372Leu)
c.2636A>T (p.His879Leu)
c.2900A>T (p.His967Leu)
c.2129-765A>T (n.2129-765A>T)
n.2973A>T
n.3181A>T
c.2390A>T (p.His797Leu)
c.1415A>T (p.His472Leu)
c.2129A>T (p.His710Leu)
c.3107A>T (p.His1036Leu)
n.2925A>T
n.3133A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197434836T>ACA344044169CRB1c.2973T>A (p.His991Gln)
c.1854T>A (p.His618Gln)
c.1116T>A (p.His372Gln)
c.2637T>A (p.His879Gln)
c.2901T>A (p.His967Gln)
c.2129-764T>A (n.2129-764T>A)
n.2974T>A
n.3182T>A
c.2391T>A (p.His797Gln)
c.1416T>A (p.His472Gln)
c.2130T>A (p.His710Gln)
c.3108T>A (p.His1036Gln)
n.2926T>A
n.3134T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197434836T>CCA422672577CRB1c.2973T>C (p.His991=)
c.1854T>C (p.His618=)
c.1116T>C (p.His372=)
c.2637T>C (p.His879=)
c.2901T>C (p.His967=)
c.2129-764T>C (n.2129-764T>C)
n.2974T>C
n.3182T>C
c.2391T>C (p.His797=)
c.1416T>C (p.His472=)
c.2130T>C (p.His710=)
c.3108T>C (p.His1036=)
n.2926T>C
n.3134T>C
1g.197434836T>GCA344044156CRB1c.2973T>G (p.His991Gln)
c.1854T>G (p.His618Gln)
c.1116T>G (p.His372Gln)
c.2637T>G (p.His879Gln)
c.2901T>G (p.His967Gln)
c.2129-764T>G (n.2129-764T>G)
n.2974T>G
n.3182T>G
c.2391T>G (p.His797Gln)
c.1416T>G (p.His472Gln)
c.2130T>G (p.His710Gln)
c.3108T>G (p.His1036Gln)
n.2926T>G
n.3134T>G
1g.197434836T=CA1218068688CRB1c.2973T= (p.His991=)
c.1854T= (p.His618=)
c.1116T= (p.His372=)
c.2637T= (p.His879=)
c.2901T= (p.His967=)
c.2129-764T= (n.2129-764T=)
n.2974T=
n.3182T=
c.2391T= (p.His797=)
c.1416T= (p.His472=)
c.2130T= (p.His710=)
c.3108T= (p.His1036=)
n.2926T=
n.3134T=
1g.197434837G>ACA344044175CRB1c.2974G>A (p.Ala992Thr)
c.1855G>A (p.Ala619Thr)
c.1117G>A (p.Ala373Thr)
c.2638G>A (p.Ala880Thr)
c.2902G>A (p.Ala968Thr)
c.2129-763G>A (n.2129-763G>A)
n.2975G>A
n.3183G>A
c.2392G>A (p.Ala798Thr)
c.1417G>A (p.Ala473Thr)
c.2131G>A (p.Ala711Thr)
c.3109G>A (p.Ala1037Thr)
n.2927G>A
n.3135G>A
1g.197434837G>CCA344044176CRB1c.2974G>C (p.Ala992Pro)
c.1855G>C (p.Ala619Pro)
c.1117G>C (p.Ala373Pro)
c.2638G>C (p.Ala880Pro)
c.2902G>C (p.Ala968Pro)
c.2129-763G>C (n.2129-763G>C)
n.2975G>C
n.3183G>C
c.2392G>C (p.Ala798Pro)
c.1417G>C (p.Ala473Pro)
c.2131G>C (p.Ala711Pro)
c.3109G>C (p.Ala1037Pro)
n.2927G>C
n.3135G>C
1g.197434837G>TCA344044177CRB1c.2974G>T (p.Ala992Ser)
c.1855G>T (p.Ala619Ser)
c.1117G>T (p.Ala373Ser)
c.2638G>T (p.Ala880Ser)
c.2902G>T (p.Ala968Ser)
c.2129-763G>T (n.2129-763G>T)
n.2975G>T
n.3183G>T
c.2392G>T (p.Ala798Ser)
c.1417G>T (p.Ala473Ser)
c.2131G>T (p.Ala711Ser)
c.3109G>T (p.Ala1037Ser)
n.2927G>T
n.3135G>T
1g.197434838C>ACA344044181CRB1c.2975C>A (p.Ala992Glu)
c.1856C>A (p.Ala619Glu)
c.1118C>A (p.Ala373Glu)
c.2639C>A (p.Ala880Glu)
c.2903C>A (p.Ala968Glu)
c.2129-762C>A (n.2129-762C>A)
n.2976C>A
n.3184C>A
c.2393C>A (p.Ala798Glu)
c.1418C>A (p.Ala473Glu)
c.2132C>A (p.Ala711Glu)
c.3110C>A (p.Ala1037Glu)
n.2928C>A
n.3136C>A
1g.197434838C>GCA344044184CRB1c.2975C>G (p.Ala992Gly)
c.1856C>G (p.Ala619Gly)
c.1118C>G (p.Ala373Gly)
c.2639C>G (p.Ala880Gly)
c.2903C>G (p.Ala968Gly)
c.2129-762C>G (n.2129-762C>G)
n.2976C>G
n.3184C>G
c.2393C>G (p.Ala798Gly)
c.1418C>G (p.Ala473Gly)
c.2132C>G (p.Ala711Gly)
c.3110C>G (p.Ala1037Gly)
n.2928C>G
n.3136C>G
1g.197434838C>TCA344044188CRB1c.2975C>T (p.Ala992Val)
c.1856C>T (p.Ala619Val)
c.1118C>T (p.Ala373Val)
c.2639C>T (p.Ala880Val)
c.2903C>T (p.Ala968Val)
c.2129-762C>T (n.2129-762C>T)
n.2976C>T
n.3184C>T
c.2393C>T (p.Ala798Val)
c.1418C>T (p.Ala473Val)
c.2132C>T (p.Ala711Val)
c.3110C>T (p.Ala1037Val)
n.2928C>T
n.3136C>T
1g.197434839A=CA1143413441CRB1c.2976A= (p.Ala992=)
c.1857A= (p.Ala619=)
c.1119A= (p.Ala373=)
c.2640A= (p.Ala880=)
c.2904A= (p.Ala968=)
c.2129-761A= (n.2129-761A=)
n.2977A=
n.3185A=
c.2394A= (p.Ala798=)
c.1419A= (p.Ala473=)
c.2133A= (p.Ala711=)
c.3111A= (p.Ala1037=)
n.2929A=
n.3137A=
1g.197434839A>CCA422672578CRB1c.2976A>C (p.Ala992=)
c.1857A>C (p.Ala619=)
c.1119A>C (p.Ala373=)
c.2640A>C (p.Ala880=)
c.2904A>C (p.Ala968=)
c.2129-761A>C (n.2129-761A>C)
n.2977A>C
n.3185A>C
c.2394A>C (p.Ala798=)
c.1419A>C (p.Ala473=)
c.2133A>C (p.Ala711=)
c.3111A>C (p.Ala1037=)
n.2929A>C
n.3137A>C
1g.197434839A>GCA1312253CRB1c.2976A>G (p.Ala992=)
c.1857A>G (p.Ala619=)
c.1119A>G (p.Ala373=)
c.2640A>G (p.Ala880=)
c.2904A>G (p.Ala968=)
c.2129-761A>G (n.2129-761A>G)
n.2977A>G
n.3185A>G
c.2394A>G (p.Ala798=)
c.1419A>G (p.Ala473=)
c.2133A>G (p.Ala711=)
c.3111A>G (p.Ala1037=)
n.2929A>G
n.3137A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434839A>TCA422672579CRB1c.2976A>T (p.Ala992=)
c.1857A>T (p.Ala619=)
c.1119A>T (p.Ala373=)
c.2640A>T (p.Ala880=)
c.2904A>T (p.Ala968=)
c.2129-761A>T (n.2129-761A>T)
n.2977A>T
n.3185A>T
c.2394A>T (p.Ala798=)
c.1419A>T (p.Ala473=)
c.2133A>T (p.Ala711=)
c.3111A>T (p.Ala1037=)
n.2929A>T
n.3137A>T
1g.197434840G>ACA1312254CRB1c.2977G>A (p.Glu993Lys)
c.1858G>A (p.Glu620Lys)
c.1120G>A (p.Glu374Lys)
c.2641G>A (p.Glu881Lys)
c.2905G>A (p.Glu969Lys)
c.2129-760G>A (n.2129-760G>A)
n.2978G>A
n.3186G>A
c.2395G>A (p.Glu799Lys)
c.1420G>A (p.Glu474Lys)
c.2134G>A (p.Glu712Lys)
c.3112G>A (p.Glu1038Lys)
n.2930G>A
n.3138G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434840G>CCA344044202CRB1c.2977G>C (p.Glu993Gln)
c.1858G>C (p.Glu620Gln)
c.1120G>C (p.Glu374Gln)
c.2641G>C (p.Glu881Gln)
c.2905G>C (p.Glu969Gln)
c.2129-760G>C (n.2129-760G>C)
n.2978G>C
n.3186G>C
c.2395G>C (p.Glu799Gln)
c.1420G>C (p.Glu474Gln)
c.2134G>C (p.Glu712Gln)
c.3112G>C (p.Glu1038Gln)
n.2930G>C
n.3138G>C
 COSMIC COSMIC
1g.197434840G=CA1142405515CRB1c.2977G= (p.Glu993=)
c.1858G= (p.Glu620=)
c.1120G= (p.Glu374=)
c.2641G= (p.Glu881=)
c.2905G= (p.Glu969=)
c.2129-760G= (n.2129-760G=)
n.2978G=
n.3186G=
c.2395G= (p.Glu799=)
c.1420G= (p.Glu474=)
c.2134G= (p.Glu712=)
c.3112G= (p.Glu1038=)
n.2930G=
n.3138G=
1g.197434840G>TCA344044208CRB1c.2977G>T (p.Glu993Ter)
c.1858G>T (p.Glu620Ter)
c.1120G>T (p.Glu374Ter)
c.2641G>T (p.Glu881Ter)
c.2905G>T (p.Glu969Ter)
c.2129-760G>T (n.2129-760G>T)
n.2978G>T
n.3186G>T
c.2395G>T (p.Glu799Ter)
c.1420G>T (p.Glu474Ter)
c.2134G>T (p.Glu712Ter)
c.3112G>T (p.Glu1038Ter)
n.2930G>T
n.3138G>T
1g.197434841A=CA1218068689CRB1c.2978A= (p.Glu993=)
c.1859A= (p.Glu620=)
c.1121A= (p.Glu374=)
c.2642A= (p.Glu881=)
c.2906A= (p.Glu969=)
c.2129-759A= (n.2129-759A=)
n.2979A=
n.3187A=
c.2396A= (p.Glu799=)
c.1421A= (p.Glu474=)
c.2135A= (p.Glu712=)
c.3113A= (p.Glu1038=)
n.2931A=
n.3139A=
1g.197434841A>CCA344044223CRB1c.2978A>C (p.Glu993Ala)
c.1859A>C (p.Glu620Ala)
c.1121A>C (p.Glu374Ala)
c.2642A>C (p.Glu881Ala)
c.2906A>C (p.Glu969Ala)
c.2129-759A>C (n.2129-759A>C)
n.2979A>C
n.3187A>C
c.2396A>C (p.Glu799Ala)
c.1421A>C (p.Glu474Ala)
c.2135A>C (p.Glu712Ala)
c.3113A>C (p.Glu1038Ala)
n.2931A>C
n.3139A>C
1g.197434841A>GCA344044226CRB1c.2978A>G (p.Glu993Gly)
c.1859A>G (p.Glu620Gly)
c.1121A>G (p.Glu374Gly)
c.2642A>G (p.Glu881Gly)
c.2906A>G (p.Glu969Gly)
c.2129-759A>G (n.2129-759A>G)
n.2979A>G
n.3187A>G
c.2396A>G (p.Glu799Gly)
c.1421A>G (p.Glu474Gly)
c.2135A>G (p.Glu712Gly)
c.3113A>G (p.Glu1038Gly)
n.2931A>G
n.3139A>G
 dbSNP gnomAD v2 gnomAD v4
1g.197434841A>TCA344044233CRB1c.2978A>T (p.Glu993Val)
c.1859A>T (p.Glu620Val)
c.1121A>T (p.Glu374Val)
c.2642A>T (p.Glu881Val)
c.2906A>T (p.Glu969Val)
c.2129-759A>T (n.2129-759A>T)
n.2979A>T
n.3187A>T
c.2396A>T (p.Glu799Val)
c.1421A>T (p.Glu474Val)
c.2135A>T (p.Glu712Val)
c.3113A>T (p.Glu1038Val)
n.2931A>T
n.3139A>T
1g.197434844_197434845delCA2586967863CRB1c.2981_2982del (p.Lys994ArgfsTer3)
c.1862_1863del (p.Lys621ArgfsTer3)
c.1124_1125del (p.Lys375ArgfsTer3)
c.2645_2646del (p.Lys882ArgfsTer3)
c.2909_2910del (p.Lys970ArgfsTer3)
c.2129-756_2129-755del (n.2129-756_2129-755del)
n.2982_2983del
n.3190_3191del
c.2399_2400del (p.Lys800ArgfsTer3)
c.1424_1425del (p.Lys475ArgfsTer3)
c.2138_2139del (p.Lys713ArgfsTer3)
c.3116_3117del (p.Lys1039ArgfsTer3)
n.2934_2935del
n.3142_3143del
 ClinVar
1g.197434842A=CA1146551840CRB1c.2979A= (p.Glu993=)
c.1860A= (p.Glu620=)
c.1122A= (p.Glu374=)
c.2643A= (p.Glu881=)
c.2907A= (p.Glu969=)
c.2129-758A= (n.2129-758A=)
n.2980A=
n.3188A=
c.2397A= (p.Glu799=)
c.1422A= (p.Glu474=)
c.2136A= (p.Glu712=)
c.3114A= (p.Glu1038=)
n.2932A=
n.3140A=
1g.197434842A>CCA344044237CRB1c.2979A>C (p.Glu993Asp)
c.1860A>C (p.Glu620Asp)
c.1122A>C (p.Glu374Asp)
c.2643A>C (p.Glu881Asp)
c.2907A>C (p.Glu969Asp)
c.2129-758A>C (n.2129-758A>C)
n.2980A>C
n.3188A>C
c.2397A>C (p.Glu799Asp)
c.1422A>C (p.Glu474Asp)
c.2136A>C (p.Glu712Asp)
c.3114A>C (p.Glu1038Asp)
n.2932A>C
n.3140A>C
1g.197434842A>GCA1312255CRB1c.2979A>G (p.Glu993=)
c.1860A>G (p.Glu620=)
c.1122A>G (p.Glu374=)
c.2643A>G (p.Glu881=)
c.2907A>G (p.Glu969=)
c.2129-758A>G (n.2129-758A>G)
n.2980A>G
n.3188A>G
c.2397A>G (p.Glu799=)
c.1422A>G (p.Glu474=)
c.2136A>G (p.Glu712=)
c.3114A>G (p.Glu1038=)
n.2932A>G
n.3140A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434842A>TCA344044242CRB1c.2979A>T (p.Glu993Asp)
c.1860A>T (p.Glu620Asp)
c.1122A>T (p.Glu374Asp)
c.2643A>T (p.Glu881Asp)
c.2907A>T (p.Glu969Asp)
c.2129-758A>T (n.2129-758A>T)
n.2980A>T
n.3188A>T
c.2397A>T (p.Glu799Asp)
c.1422A>T (p.Glu474Asp)
c.2136A>T (p.Glu712Asp)
c.3114A>T (p.Glu1038Asp)
n.2932A>T
n.3140A>T
1g.197434843A>CCA344044251CRB1c.2980A>C (p.Lys994Gln)
c.1861A>C (p.Lys621Gln)
c.1123A>C (p.Lys375Gln)
c.2644A>C (p.Lys882Gln)
c.2908A>C (p.Lys970Gln)
c.2129-757A>C (n.2129-757A>C)
n.2981A>C
n.3189A>C
c.2398A>C (p.Lys800Gln)
c.1423A>C (p.Lys475Gln)
c.2137A>C (p.Lys713Gln)
c.3115A>C (p.Lys1039Gln)
n.2933A>C
n.3141A>C
1g.197434843A>GCA344044254CRB1c.2980A>G (p.Lys994Glu)
c.1861A>G (p.Lys621Glu)
c.1123A>G (p.Lys375Glu)
c.2644A>G (p.Lys882Glu)
c.2908A>G (p.Lys970Glu)
c.2129-757A>G (n.2129-757A>G)
n.2981A>G
n.3189A>G
c.2398A>G (p.Lys800Glu)
c.1423A>G (p.Lys475Glu)
c.2137A>G (p.Lys713Glu)
c.3115A>G (p.Lys1039Glu)
n.2933A>G
n.3141A>G
 ClinVar dbSNP gnomAD v4
1g.197434843A>TCA344044273CRB1c.2980A>T (p.Lys994Ter)
c.1861A>T (p.Lys621Ter)
c.1123A>T (p.Lys375Ter)
c.2644A>T (p.Lys882Ter)
c.2908A>T (p.Lys970Ter)
c.2129-757A>T (n.2129-757A>T)
n.2981A>T
n.3189A>T
c.2398A>T (p.Lys800Ter)
c.1423A>T (p.Lys475Ter)
c.2137A>T (p.Lys713Ter)
c.3115A>T (p.Lys1039Ter)
n.2933A>T
n.3141A>T
1g.197434845_197434927dupCA2740090447CRB1c.2982_3064dup (p.Ser1022LysfsTer28)
c.1863_1945dup (p.Ser649LysfsTer28)
c.1125_1207dup (p.Ser403LysfsTer28)
c.2646_2728dup (p.Ser910LysfsTer28)
c.2910_2992dup (p.Ser998LysfsTer28)
c.2129-755_2129-673dup (n.2129-755_2129-673dup)
n.2983_3065dup
n.3191_3273dup
c.2400_2482dup (p.Ser828LysfsTer28)
c.1425_1507dup (p.Ser503LysfsTer28)
c.2139_2221dup (p.Ser741LysfsTer28)
c.3117_3199dup (p.Ser1067LysfsTer28)
n.2935_3017dup
n.3143_3225dup
 ClinVar
1g.197434844A>CCA344044278CRB1c.2981A>C (p.Lys994Thr)
c.1862A>C (p.Lys621Thr)
c.1124A>C (p.Lys375Thr)
c.2645A>C (p.Lys882Thr)
c.2909A>C (p.Lys970Thr)
c.2129-756A>C (n.2129-756A>C)
n.2982A>C
n.3190A>C
c.2399A>C (p.Lys800Thr)
c.1424A>C (p.Lys475Thr)
c.2138A>C (p.Lys713Thr)
c.3116A>C (p.Lys1039Thr)
n.2934A>C
n.3142A>C
1g.197434844A>GCA344044279CRB1c.2981A>G (p.Lys994Arg)
c.1862A>G (p.Lys621Arg)
c.1124A>G (p.Lys375Arg)
c.2645A>G (p.Lys882Arg)
c.2909A>G (p.Lys970Arg)
c.2129-756A>G (n.2129-756A>G)
n.2982A>G
n.3190A>G
c.2399A>G (p.Lys800Arg)
c.1424A>G (p.Lys475Arg)
c.2138A>G (p.Lys713Arg)
c.3116A>G (p.Lys1039Arg)
n.2934A>G
n.3142A>G
1g.197434844A>TCA344044280CRB1c.2981A>T (p.Lys994Ile)
c.1862A>T (p.Lys621Ile)
c.1124A>T (p.Lys375Ile)
c.2645A>T (p.Lys882Ile)
c.2909A>T (p.Lys970Ile)
c.2129-756A>T (n.2129-756A>T)
n.2982A>T
n.3190A>T
c.2399A>T (p.Lys800Ile)
c.1424A>T (p.Lys475Ile)
c.2138A>T (p.Lys713Ile)
c.3116A>T (p.Lys1039Ile)
n.2934A>T
n.3142A>T
1g.197434845A>CCA344044288CRB1c.2982A>C (p.Lys994Asn)
c.1863A>C (p.Lys621Asn)
c.1125A>C (p.Lys375Asn)
c.2646A>C (p.Lys882Asn)
c.2910A>C (p.Lys970Asn)
c.2129-755A>C (n.2129-755A>C)
n.2983A>C
n.3191A>C
c.2400A>C (p.Lys800Asn)
c.1425A>C (p.Lys475Asn)
c.2139A>C (p.Lys713Asn)
c.3117A>C (p.Lys1039Asn)
n.2935A>C
n.3143A>C
1g.197434845A>GCA422672580CRB1c.2982A>G (p.Lys994=)
c.1863A>G (p.Lys621=)
c.1125A>G (p.Lys375=)
c.2646A>G (p.Lys882=)
c.2910A>G (p.Lys970=)
c.2129-755A>G (n.2129-755A>G)
n.2983A>G
n.3191A>G
c.2400A>G (p.Lys800=)
c.1425A>G (p.Lys475=)
c.2139A>G (p.Lys713=)
c.3117A>G (p.Lys1039=)
n.2935A>G
n.3143A>G
1g.197434845A>TCA344044291CRB1c.2982A>T (p.Lys994Asn)
c.1863A>T (p.Lys621Asn)
c.1125A>T (p.Lys375Asn)
c.2646A>T (p.Lys882Asn)
c.2910A>T (p.Lys970Asn)
c.2129-755A>T (n.2129-755A>T)
n.2983A>T
n.3191A>T
c.2400A>T (p.Lys800Asn)
c.1425A>T (p.Lys475Asn)
c.2139A>T (p.Lys713Asn)
c.3117A>T (p.Lys1039Asn)
n.2935A>T
n.3143A>T
1g.197434846G>ACA1312256CRB1c.2983G>A (p.Glu995Lys)
c.1864G>A (p.Glu622Lys)
c.1126G>A (p.Glu376Lys)
c.2647G>A (p.Glu883Lys)
c.2911G>A (p.Glu971Lys)
c.2129-754G>A (n.2129-754G>A)
n.2984G>A
n.3192G>A
c.2401G>A (p.Glu801Lys)
c.1426G>A (p.Glu476Lys)
c.2140G>A (p.Glu714Lys)
c.3118G>A (p.Glu1040Lys)
n.2936G>A
n.3144G>A
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
1g.197434846G>CCA344044299CRB1c.2983G>C (p.Glu995Gln)
c.1864G>C (p.Glu622Gln)
c.1126G>C (p.Glu376Gln)
c.2647G>C (p.Glu883Gln)
c.2911G>C (p.Glu971Gln)
c.2129-754G>C (n.2129-754G>C)
n.2984G>C
n.3192G>C
c.2401G>C (p.Glu801Gln)
c.1426G>C (p.Glu476Gln)
c.2140G>C (p.Glu714Gln)
c.3118G>C (p.Glu1040Gln)
n.2936G>C
n.3144G>C
 dbSNP gnomAD v2 gnomAD v4
1g.197434846G=CA1140762958CRB1c.2983G= (p.Glu995=)
c.1864G= (p.Glu622=)
c.1126G= (p.Glu376=)
c.2647G= (p.Glu883=)
c.2911G= (p.Glu971=)
c.2129-754G= (n.2129-754G=)
n.2984G=
n.3192G=
c.2401G= (p.Glu801=)
c.1426G= (p.Glu476=)
c.2140G= (p.Glu714=)
c.3118G= (p.Glu1040=)
n.2936G=
n.3144G=
1g.197434846G>TCA228028CRB1c.2983G>T (p.Glu995Ter)
c.1864G>T (p.Glu622Ter)
c.1126G>T (p.Glu376Ter)
c.2647G>T (p.Glu883Ter)
c.2911G>T (p.Glu971Ter)
c.2129-754G>T (n.2129-754G>T)
n.2984G>T
n.3192G>T
c.2401G>T (p.Glu801Ter)
c.1426G>T (p.Glu476Ter)
c.2140G>T (p.Glu714Ter)
c.3118G>T (p.Glu1040Ter)
n.2936G>T
n.3144G>T
 ClinVar dbSNP
1g.197434847A=CA1218068690CRB1c.2984A= (p.Glu995=)
c.1865A= (p.Glu622=)
c.1127A= (p.Glu376=)
c.2648A= (p.Glu883=)
c.2912A= (p.Glu971=)
c.2129-753A= (n.2129-753A=)
n.2985A=
n.3193A=
c.2402A= (p.Glu801=)
c.1427A= (p.Glu476=)
c.2141A= (p.Glu714=)
c.3119A= (p.Glu1040=)
n.2937A=
n.3145A=
1g.197434847A>CCA344044301CRB1c.2984A>C (p.Glu995Ala)
c.1865A>C (p.Glu622Ala)
c.1127A>C (p.Glu376Ala)
c.2648A>C (p.Glu883Ala)
c.2912A>C (p.Glu971Ala)
c.2129-753A>C (n.2129-753A>C)
n.2985A>C
n.3193A>C
c.2402A>C (p.Glu801Ala)
c.1427A>C (p.Glu476Ala)
c.2141A>C (p.Glu714Ala)
c.3119A>C (p.Glu1040Ala)
n.2937A>C
n.3145A>C
1g.197434847A>GCA1312257CRB1c.2984A>G (p.Glu995Gly)
c.1865A>G (p.Glu622Gly)
c.1127A>G (p.Glu376Gly)
c.2648A>G (p.Glu883Gly)
c.2912A>G (p.Glu971Gly)
c.2129-753A>G (n.2129-753A>G)
n.2985A>G
n.3193A>G
c.2402A>G (p.Glu801Gly)
c.1427A>G (p.Glu476Gly)
c.2141A>G (p.Glu714Gly)
c.3119A>G (p.Glu1040Gly)
n.2937A>G
n.3145A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434847A>TCA344044305CRB1c.2984A>T (p.Glu995Val)
c.1865A>T (p.Glu622Val)
c.1127A>T (p.Glu376Val)
c.2648A>T (p.Glu883Val)
c.2912A>T (p.Glu971Val)
c.2129-753A>T (n.2129-753A>T)
n.2985A>T
n.3193A>T
c.2402A>T (p.Glu801Val)
c.1427A>T (p.Glu476Val)
c.2141A>T (p.Glu714Val)
c.3119A>T (p.Glu1040Val)
n.2937A>T
n.3145A>T
 COSMIC COSMIC
1g.197434848G>ACA422672582CRB1c.2985G>A (p.Glu995=)
c.1866G>A (p.Glu622=)
c.1128G>A (p.Glu376=)
c.2649G>A (p.Glu883=)
c.2913G>A (p.Glu971=)
c.2129-752G>A (n.2129-752G>A)
n.2986G>A
n.3194G>A
c.2403G>A (p.Glu801=)
c.1428G>A (p.Glu476=)
c.2142G>A (p.Glu714=)
c.3120G>A (p.Glu1040=)
n.2938G>A
n.3146G>A
 gnomAD v4
1g.197434848G>CCA344044312CRB1c.2985G>C (p.Glu995Asp)
c.1866G>C (p.Glu622Asp)
c.1128G>C (p.Glu376Asp)
c.2649G>C (p.Glu883Asp)
c.2913G>C (p.Glu971Asp)
c.2129-752G>C (n.2129-752G>C)
n.2986G>C
n.3194G>C
c.2403G>C (p.Glu801Asp)
c.1428G>C (p.Glu476Asp)
c.2142G>C (p.Glu714Asp)
c.3120G>C (p.Glu1040Asp)
n.2938G>C
n.3146G>C
1g.197434848G=CA1148563041CRB1c.2985G= (p.Glu995=)
c.1866G= (p.Glu622=)
c.1128G= (p.Glu376=)
c.2649G= (p.Glu883=)
c.2913G= (p.Glu971=)
c.2129-752G= (n.2129-752G=)
n.2986G=
n.3194G=
c.2403G= (p.Glu801=)
c.1428G= (p.Glu476=)
c.2142G= (p.Glu714=)
c.3120G= (p.Glu1040=)
n.2938G=
n.3146G=
1g.197434848G>TCA1312258CRB1c.2985G>T (p.Glu995Asp)
c.1866G>T (p.Glu622Asp)
c.1128G>T (p.Glu376Asp)
c.2649G>T (p.Glu883Asp)
c.2913G>T (p.Glu971Asp)
c.2129-752G>T (n.2129-752G>T)
n.2986G>T
n.3194G>T
c.2403G>T (p.Glu801Asp)
c.1428G>T (p.Glu476Asp)
c.2142G>T (p.Glu714Asp)
c.3120G>T (p.Glu1040Asp)
n.2938G>T
n.3146G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434849C>ACA344044315CRB1c.2986C>A (p.Pro996Thr)
c.1867C>A (p.Pro623Thr)
c.1129C>A (p.Pro377Thr)
c.2650C>A (p.Pro884Thr)
c.2914C>A (p.Pro972Thr)
c.2129-751C>A (n.2129-751C>A)
n.2987C>A
n.3195C>A
c.2404C>A (p.Pro802Thr)
c.1429C>A (p.Pro477Thr)
c.2143C>A (p.Pro715Thr)
c.3121C>A (p.Pro1041Thr)
n.2939C>A
n.3147C>A
 gnomAD v4
1g.197434849C>GCA344044317CRB1c.2986C>G (p.Pro996Ala)
c.1867C>G (p.Pro623Ala)
c.1129C>G (p.Pro377Ala)
c.2650C>G (p.Pro884Ala)
c.2914C>G (p.Pro972Ala)
c.2129-751C>G (n.2129-751C>G)
n.2987C>G
n.3195C>G
c.2404C>G (p.Pro802Ala)
c.1429C>G (p.Pro477Ala)
c.2143C>G (p.Pro715Ala)
c.3121C>G (p.Pro1041Ala)
n.2939C>G
n.3147C>G
 gnomAD v4
1g.197434849C>TCA344044320CRB1c.2986C>T (p.Pro996Ser)
c.1867C>T (p.Pro623Ser)
c.1129C>T (p.Pro377Ser)
c.2650C>T (p.Pro884Ser)
c.2914C>T (p.Pro972Ser)
c.2129-751C>T (n.2129-751C>T)
n.2987C>T
n.3195C>T
c.2404C>T (p.Pro802Ser)
c.1429C>T (p.Pro477Ser)
c.2143C>T (p.Pro715Ser)
c.3121C>T (p.Pro1041Ser)
n.2939C>T
n.3147C>T
1g.197434849_197434850insATTTGCAATACCA1218068691CRB1c.2986_2987insATTTGCAATAC (p.Pro996HisfsTer30)
c.1867_1868insATTTGCAATAC (p.Pro623HisfsTer30)
c.1129_1130insATTTGCAATAC (p.Pro377HisfsTer30)
c.2650_2651insATTTGCAATAC (p.Pro884HisfsTer30)
c.2914_2915insATTTGCAATAC (p.Pro972HisfsTer30)
c.2129-751_2129-750insATTTGCAATAC (n.2129-751_2129-750insATTTGCAATAC)
n.2987_2988insATTTGCAATAC
n.3195_3196insATTTGCAATAC
c.2404_2405insATTTGCAATAC (p.Pro802HisfsTer30)
c.1429_1430insATTTGCAATAC (p.Pro477HisfsTer30)
c.2143_2144insATTTGCAATAC (p.Pro715HisfsTer30)
c.3121_3122insATTTGCAATAC (p.Pro1041HisfsTer30)
n.2939_2940insATTTGCAATAC
n.3147_3148insATTTGCAATAC
 dbSNP
1g.197434850C>ACA344044326CRB1c.2987C>A (p.Pro996His)
c.1868C>A (p.Pro623His)
c.1130C>A (p.Pro377His)
c.2651C>A (p.Pro884His)
c.2915C>A (p.Pro972His)
c.2129-750C>A (n.2129-750C>A)
n.2988C>A
n.3196C>A
c.2405C>A (p.Pro802His)
c.1430C>A (p.Pro477His)
c.2144C>A (p.Pro715His)
c.3122C>A (p.Pro1041His)
n.2940C>A
n.3148C>A
1g.197434850C>GCA344044327CRB1c.2987C>G (p.Pro996Arg)
c.1868C>G (p.Pro623Arg)
c.1130C>G (p.Pro377Arg)
c.2651C>G (p.Pro884Arg)
c.2915C>G (p.Pro972Arg)
c.2129-750C>G (n.2129-750C>G)
n.2988C>G
n.3196C>G
c.2405C>G (p.Pro802Arg)
c.1430C>G (p.Pro477Arg)
c.2144C>G (p.Pro715Arg)
c.3122C>G (p.Pro1041Arg)
n.2940C>G
n.3148C>G
1g.197434850C>TCA344044328CRB1c.2987C>T (p.Pro996Leu)
c.1868C>T (p.Pro623Leu)
c.1130C>T (p.Pro377Leu)
c.2651C>T (p.Pro884Leu)
c.2915C>T (p.Pro972Leu)
c.2129-750C>T (n.2129-750C>T)
n.2988C>T
n.3196C>T
c.2405C>T (p.Pro802Leu)
c.1430C>T (p.Pro477Leu)
c.2144C>T (p.Pro715Leu)
c.3122C>T (p.Pro1041Leu)
n.2940C>T
n.3148C>T
1g.197434851T>ACA422672585CRB1c.2988T>A (p.Pro996=)
c.1869T>A (p.Pro623=)
c.1131T>A (p.Pro377=)
c.2652T>A (p.Pro884=)
c.2916T>A (p.Pro972=)
c.2129-749T>A (n.2129-749T>A)
n.2989T>A
n.3197T>A
c.2406T>A (p.Pro802=)
c.1431T>A (p.Pro477=)
c.2145T>A (p.Pro715=)
c.3123T>A (p.Pro1041=)
n.2941T>A
n.3149T>A
1g.197434851T>CCA422672586CRB1c.2988T>C (p.Pro996=)
c.1869T>C (p.Pro623=)
c.1131T>C (p.Pro377=)
c.2652T>C (p.Pro884=)
c.2916T>C (p.Pro972=)
c.2129-749T>C (n.2129-749T>C)
n.2989T>C
n.3197T>C
c.2406T>C (p.Pro802=)
c.1431T>C (p.Pro477=)
c.2145T>C (p.Pro715=)
c.3123T>C (p.Pro1041=)
n.2941T>C
n.3149T>C
1g.197434851T>GCA422672587CRB1c.2988T>G (p.Pro996=)
c.1869T>G (p.Pro623=)
c.1131T>G (p.Pro377=)
c.2652T>G (p.Pro884=)
c.2916T>G (p.Pro972=)
c.2129-749T>G (n.2129-749T>G)
n.2989T>G
n.3197T>G
c.2406T>G (p.Pro802=)
c.1431T>G (p.Pro477=)
c.2145T>G (p.Pro715=)
c.3123T>G (p.Pro1041=)
n.2941T>G
n.3149T>G
1g.197434851T=CA1218068692CRB1c.2988T= (p.Pro996=)
c.1869T= (p.Pro623=)
c.1131T= (p.Pro377=)
c.2652T= (p.Pro884=)
c.2916T= (p.Pro972=)
c.2129-749T= (n.2129-749T=)
n.2989T=
n.3197T=
c.2406T= (p.Pro802=)
c.1431T= (p.Pro477=)
c.2145T= (p.Pro715=)
c.3123T= (p.Pro1041=)
n.2941T=
n.3149T=
1g.197434851_197434852insAATGACA1218068693CRB1c.2988_2989insAATGA (p.Glu997AsnfsTer27)
c.1869_1870insAATGA (p.Glu624AsnfsTer27)
c.1131_1132insAATGA (p.Glu378AsnfsTer27)
c.2652_2653insAATGA (p.Glu885AsnfsTer27)
c.2916_2917insAATGA (p.Glu973AsnfsTer27)
c.2129-749_2129-748insAATGA (n.2129-749_2129-748insAATGA)
n.2989_2990insAATGA
n.3197_3198insAATGA
c.2406_2407insAATGA (p.Glu803AsnfsTer27)
c.1431_1432insAATGA (p.Glu478AsnfsTer27)
c.2145_2146insAATGA (p.Glu716AsnfsTer27)
c.3123_3124insAATGA (p.Glu1042AsnfsTer27)
n.2941_2942insAATGA
n.3149_3150insAATGA
 dbSNP
1g.197434852G>ACA344044331CRB1c.2989G>A (p.Glu997Lys)
c.1870G>A (p.Glu624Lys)
c.1132G>A (p.Glu378Lys)
c.2653G>A (p.Glu885Lys)
c.2917G>A (p.Glu973Lys)
c.2129-748G>A (n.2129-748G>A)
n.2990G>A
n.3198G>A
c.2407G>A (p.Glu803Lys)
c.1432G>A (p.Glu478Lys)
c.2146G>A (p.Glu716Lys)
c.3124G>A (p.Glu1042Lys)
n.2942G>A
n.3150G>A
1g.197434852G>CCA344044329CRB1c.2989G>C (p.Glu997Gln)
c.1870G>C (p.Glu624Gln)
c.1132G>C (p.Glu378Gln)
c.2653G>C (p.Glu885Gln)
c.2917G>C (p.Glu973Gln)
c.2129-748G>C (n.2129-748G>C)
n.2990G>C
n.3198G>C
c.2407G>C (p.Glu803Gln)
c.1432G>C (p.Glu478Gln)
c.2146G>C (p.Glu716Gln)
c.3124G>C (p.Glu1042Gln)
n.2942G>C
n.3150G>C
1g.197434852G>TCA344044330CRB1c.2989G>T (p.Glu997Ter)
c.1870G>T (p.Glu624Ter)
c.1132G>T (p.Glu378Ter)
c.2653G>T (p.Glu885Ter)
c.2917G>T (p.Glu973Ter)
c.2129-748G>T (n.2129-748G>T)
n.2990G>T
n.3198G>T
c.2407G>T (p.Glu803Ter)
c.1432G>T (p.Glu478Ter)
c.2146G>T (p.Glu716Ter)
c.3124G>T (p.Glu1042Ter)
n.2942G>T
n.3150G>T
 gnomAD v4
1g.197434853A>CCA344044332CRB1c.2990A>C (p.Glu997Ala)
c.1871A>C (p.Glu624Ala)
c.1133A>C (p.Glu378Ala)
c.2654A>C (p.Glu885Ala)
c.2918A>C (p.Glu973Ala)
c.2129-747A>C (n.2129-747A>C)
n.2991A>C
n.3199A>C
c.2408A>C (p.Glu803Ala)
c.1433A>C (p.Glu478Ala)
c.2147A>C (p.Glu716Ala)
c.3125A>C (p.Glu1042Ala)
n.2943A>C
n.3151A>C
1g.197434853A>GCA344044333CRB1c.2990A>G (p.Glu997Gly)
c.1871A>G (p.Glu624Gly)
c.1133A>G (p.Glu378Gly)
c.2654A>G (p.Glu885Gly)
c.2918A>G (p.Glu973Gly)
c.2129-747A>G (n.2129-747A>G)
n.2991A>G
n.3199A>G
c.2408A>G (p.Glu803Gly)
c.1433A>G (p.Glu478Gly)
c.2147A>G (p.Glu716Gly)
c.3125A>G (p.Glu1042Gly)
n.2943A>G
n.3151A>G
1g.197434853A>TCA344044334CRB1c.2990A>T (p.Glu997Val)
c.1871A>T (p.Glu624Val)
c.1133A>T (p.Glu378Val)
c.2654A>T (p.Glu885Val)
c.2918A>T (p.Glu973Val)
c.2129-747A>T (n.2129-747A>T)
n.2991A>T
n.3199A>T
c.2408A>T (p.Glu803Val)
c.1433A>T (p.Glu478Val)
c.2147A>T (p.Glu716Val)
c.3125A>T (p.Glu1042Val)
n.2943A>T
n.3151A>T
1g.197434854A>CCA344044337CRB1c.2991A>C (p.Glu997Asp)
c.1872A>C (p.Glu624Asp)
c.1134A>C (p.Glu378Asp)
c.2655A>C (p.Glu885Asp)
c.2919A>C (p.Glu973Asp)
c.2129-746A>C (n.2129-746A>C)
n.2992A>C
n.3200A>C
c.2409A>C (p.Glu803Asp)
c.1434A>C (p.Glu478Asp)
c.2148A>C (p.Glu716Asp)
c.3126A>C (p.Glu1042Asp)
n.2944A>C
n.3152A>C
1g.197434854A>GCA422672589CRB1c.2991A>G (p.Glu997=)
c.1872A>G (p.Glu624=)
c.1134A>G (p.Glu378=)
c.2655A>G (p.Glu885=)
c.2919A>G (p.Glu973=)
c.2129-746A>G (n.2129-746A>G)
n.2992A>G
n.3200A>G
c.2409A>G (p.Glu803=)
c.1434A>G (p.Glu478=)
c.2148A>G (p.Glu716=)
c.3126A>G (p.Glu1042=)
n.2944A>G
n.3152A>G
1g.197434854A>TCA344044341CRB1c.2991A>T (p.Glu997Asp)
c.1872A>T (p.Glu624Asp)
c.1134A>T (p.Glu378Asp)
c.2655A>T (p.Glu885Asp)
c.2919A>T (p.Glu973Asp)
c.2129-746A>T (n.2129-746A>T)
n.2992A>T
n.3200A>T
c.2409A>T (p.Glu803Asp)
c.1434A>T (p.Glu478Asp)
c.2148A>T (p.Glu716Asp)
c.3126A>T (p.Glu1042Asp)
n.2944A>T
n.3152A>T
1g.197434855T>ACA344044346CRB1c.2992T>A (p.Phe998Ile)
c.1873T>A (p.Phe625Ile)
c.1135T>A (p.Phe379Ile)
c.2656T>A (p.Phe886Ile)
c.2920T>A (p.Phe974Ile)
c.2129-745T>A (n.2129-745T>A)
n.2993T>A
n.3201T>A
c.2410T>A (p.Phe804Ile)
c.1435T>A (p.Phe479Ile)
c.2149T>A (p.Phe717Ile)
c.3127T>A (p.Phe1043Ile)
n.2945T>A
n.3153T>A
1g.197434855T>CCA344044356CRB1c.2992T>C (p.Phe998Leu)
c.1873T>C (p.Phe625Leu)
c.1135T>C (p.Phe379Leu)
c.2656T>C (p.Phe886Leu)
c.2920T>C (p.Phe974Leu)
c.2129-745T>C (n.2129-745T>C)
n.2993T>C
n.3201T>C
c.2410T>C (p.Phe804Leu)
c.1435T>C (p.Phe479Leu)
c.2149T>C (p.Phe717Leu)
c.3127T>C (p.Phe1043Leu)
n.2945T>C
n.3153T>C
 dbSNP
1g.197434855T>GCA344044353CRB1c.2992T>G (p.Phe998Val)
c.1873T>G (p.Phe625Val)
c.1135T>G (p.Phe379Val)
c.2656T>G (p.Phe886Val)
c.2920T>G (p.Phe974Val)
c.2129-745T>G (n.2129-745T>G)
n.2993T>G
n.3201T>G
c.2410T>G (p.Phe804Val)
c.1435T>G (p.Phe479Val)
c.2149T>G (p.Phe717Val)
c.3127T>G (p.Phe1043Val)
n.2945T>G
n.3153T>G
 dbSNP
1g.197434855T=CA1218068694CRB1c.2992T= (p.Phe998=)
c.1873T= (p.Phe625=)
c.1135T= (p.Phe379=)
c.2656T= (p.Phe886=)
c.2920T= (p.Phe974=)
c.2129-745T= (n.2129-745T=)
n.2993T=
n.3201T=
c.2410T= (p.Phe804=)
c.1435T= (p.Phe479=)
c.2149T= (p.Phe717=)
c.3127T= (p.Phe1043=)
n.2945T=
n.3153T=
1g.197434856T>ACA344044358CRB1c.2993T>A (p.Phe998Tyr)
c.1874T>A (p.Phe625Tyr)
c.1136T>A (p.Phe379Tyr)
c.2657T>A (p.Phe886Tyr)
c.2921T>A (p.Phe974Tyr)
c.2129-744T>A (n.2129-744T>A)
n.2994T>A
n.3202T>A
c.2411T>A (p.Phe804Tyr)
c.1436T>A (p.Phe479Tyr)
c.2150T>A (p.Phe717Tyr)
c.3128T>A (p.Phe1043Tyr)
n.2946T>A
n.3154T>A
1g.197434856T>CCA344044359CRB1c.2993T>C (p.Phe998Ser)
c.1874T>C (p.Phe625Ser)
c.1136T>C (p.Phe379Ser)
c.2657T>C (p.Phe886Ser)
c.2921T>C (p.Phe974Ser)
c.2129-744T>C (n.2129-744T>C)
n.2994T>C
n.3202T>C
c.2411T>C (p.Phe804Ser)
c.1436T>C (p.Phe479Ser)
c.2150T>C (p.Phe717Ser)
c.3128T>C (p.Phe1043Ser)
n.2946T>C
n.3154T>C
1g.197434856T>GCA344044360CRB1c.2993T>G (p.Phe998Cys)
c.1874T>G (p.Phe625Cys)
c.1136T>G (p.Phe379Cys)
c.2657T>G (p.Phe886Cys)
c.2921T>G (p.Phe974Cys)
c.2129-744T>G (n.2129-744T>G)
n.2994T>G
n.3202T>G
c.2411T>G (p.Phe804Cys)
c.1436T>G (p.Phe479Cys)
c.2150T>G (p.Phe717Cys)
c.3128T>G (p.Phe1043Cys)
n.2946T>G
n.3154T>G
 dbSNP gnomAD v2
1g.197434856T=CA1218068695CRB1c.2993T= (p.Phe998=)
c.1874T= (p.Phe625=)
c.1136T= (p.Phe379=)
c.2657T= (p.Phe886=)
c.2921T= (p.Phe974=)
c.2129-744T= (n.2129-744T=)
n.2994T=
n.3202T=
c.2411T= (p.Phe804=)
c.1436T= (p.Phe479=)
c.2150T= (p.Phe717=)
c.3128T= (p.Phe1043=)
n.2946T=
n.3154T=
1g.197434857T>ACA344044364CRB1c.2994T>A (p.Phe998Leu)
c.1875T>A (p.Phe625Leu)
c.1137T>A (p.Phe379Leu)
c.2658T>A (p.Phe886Leu)
c.2922T>A (p.Phe974Leu)
c.2129-743T>A (n.2129-743T>A)
n.2995T>A
n.3203T>A
c.2412T>A (p.Phe804Leu)
c.1437T>A (p.Phe479Leu)
c.2151T>A (p.Phe717Leu)
c.3129T>A (p.Phe1043Leu)
n.2947T>A
n.3155T>A
1g.197434857T>CCA422672592CRB1c.2994T>C (p.Phe998=)
c.1875T>C (p.Phe625=)
c.1137T>C (p.Phe379=)
c.2658T>C (p.Phe886=)
c.2922T>C (p.Phe974=)
c.2129-743T>C (n.2129-743T>C)
n.2995T>C
n.3203T>C
c.2412T>C (p.Phe804=)
c.1437T>C (p.Phe479=)
c.2151T>C (p.Phe717=)
c.3129T>C (p.Phe1043=)
n.2947T>C
n.3155T>C
1g.197434857T>GCA344044366CRB1c.2994T>G (p.Phe998Leu)
c.1875T>G (p.Phe625Leu)
c.1137T>G (p.Phe379Leu)
c.2658T>G (p.Phe886Leu)
c.2922T>G (p.Phe974Leu)
c.2129-743T>G (n.2129-743T>G)
n.2995T>G
n.3203T>G
c.2412T>G (p.Phe804Leu)
c.1437T>G (p.Phe479Leu)
c.2151T>G (p.Phe717Leu)
c.3129T>G (p.Phe1043Leu)
n.2947T>G
n.3155T>G
1g.197434858C>ACA344044369CRB1c.2995C>A (p.Leu999Ile)
c.1876C>A (p.Leu626Ile)
c.1138C>A (p.Leu380Ile)
c.2659C>A (p.Leu887Ile)
c.2923C>A (p.Leu975Ile)
c.2129-742C>A (n.2129-742C>A)
n.2996C>A
n.3204C>A
c.2413C>A (p.Leu805Ile)
c.1438C>A (p.Leu480Ile)
c.2152C>A (p.Leu718Ile)
c.3130C>A (p.Leu1044Ile)
n.2948C>A
n.3156C>A
1g.197434858C=CA1218068696CRB1c.2995C= (p.Leu999=)
c.1876C= (p.Leu626=)
c.1138C= (p.Leu380=)
c.2659C= (p.Leu887=)
c.2923C= (p.Leu975=)
c.2129-742C= (n.2129-742C=)
n.2996C=
n.3204C=
c.2413C= (p.Leu805=)
c.1438C= (p.Leu480=)
c.2152C= (p.Leu718=)
c.3130C= (p.Leu1044=)
n.2948C=
n.3156C=
1g.197434858C>GCA344044371CRB1c.2995C>G (p.Leu999Val)
c.1876C>G (p.Leu626Val)
c.1138C>G (p.Leu380Val)
c.2659C>G (p.Leu887Val)
c.2923C>G (p.Leu975Val)
c.2129-742C>G (n.2129-742C>G)
n.2996C>G
n.3204C>G
c.2413C>G (p.Leu805Val)
c.1438C>G (p.Leu480Val)
c.2152C>G (p.Leu718Val)
c.3130C>G (p.Leu1044Val)
n.2948C>G
n.3156C>G
1g.197434858C>TCA35906752CRB1c.2995C>T (p.Leu999Phe)
c.1876C>T (p.Leu626Phe)
c.1138C>T (p.Leu380Phe)
c.2659C>T (p.Leu887Phe)
c.2923C>T (p.Leu975Phe)
c.2129-742C>T (n.2129-742C>T)
n.2996C>T
n.3204C>T
c.2413C>T (p.Leu805Phe)
c.1438C>T (p.Leu480Phe)
c.2152C>T (p.Leu718Phe)
c.3130C>T (p.Leu1044Phe)
n.2948C>T
n.3156C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197434859T>ACA344044378CRB1c.2996T>A (p.Leu999His)
c.1877T>A (p.Leu626His)
c.1139T>A (p.Leu380His)
c.2660T>A (p.Leu887His)
c.2924T>A (p.Leu975His)
c.2129-741T>A (n.2129-741T>A)
n.2997T>A
n.3205T>A
c.2414T>A (p.Leu805His)
c.1439T>A (p.Leu480His)
c.2153T>A (p.Leu718His)
c.3131T>A (p.Leu1044His)
n.2949T>A
n.3157T>A
1g.197434859T>CCA344044380CRB1c.2996T>C (p.Leu999Pro)
c.1877T>C (p.Leu626Pro)
c.1139T>C (p.Leu380Pro)
c.2660T>C (p.Leu887Pro)
c.2924T>C (p.Leu975Pro)
c.2129-741T>C (n.2129-741T>C)
n.2997T>C
n.3205T>C
c.2414T>C (p.Leu805Pro)
c.1439T>C (p.Leu480Pro)
c.2153T>C (p.Leu718Pro)
c.3131T>C (p.Leu1044Pro)
n.2949T>C
n.3157T>C
1g.197434859T>GCA1312259CRB1c.2996T>G (p.Leu999Arg)
c.1877T>G (p.Leu626Arg)
c.1139T>G (p.Leu380Arg)
c.2660T>G (p.Leu887Arg)
c.2924T>G (p.Leu975Arg)
c.2129-741T>G (n.2129-741T>G)
n.2997T>G
n.3205T>G
c.2414T>G (p.Leu805Arg)
c.1439T>G (p.Leu480Arg)
c.2153T>G (p.Leu718Arg)
c.3131T>G (p.Leu1044Arg)
n.2949T>G
n.3157T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434859T=CA1218068697CRB1c.2996T= (p.Leu999=)
c.1877T= (p.Leu626=)
c.1139T= (p.Leu380=)
c.2660T= (p.Leu887=)
c.2924T= (p.Leu975=)
c.2129-741T= (n.2129-741T=)
n.2997T=
n.3205T=
c.2414T= (p.Leu805=)
c.1439T= (p.Leu480=)
c.2153T= (p.Leu718=)
c.3131T= (p.Leu1044=)
n.2949T=
n.3157T=
1g.197434860T>ACA422672595CRB1c.2997T>A (p.Leu999=)
c.1878T>A (p.Leu626=)
c.1140T>A (p.Leu380=)
c.2661T>A (p.Leu887=)
c.2925T>A (p.Leu975=)
c.2129-740T>A (n.2129-740T>A)
n.2998T>A
n.3206T>A
c.2415T>A (p.Leu805=)
c.1440T>A (p.Leu480=)
c.2154T>A (p.Leu718=)
c.3132T>A (p.Leu1044=)
n.2950T>A
n.3158T>A
1g.197434860T>CCA422672596CRB1c.2997T>C (p.Leu999=)
c.1878T>C (p.Leu626=)
c.1140T>C (p.Leu380=)
c.2661T>C (p.Leu887=)
c.2925T>C (p.Leu975=)
c.2129-740T>C (n.2129-740T>C)
n.2998T>C
n.3206T>C
c.2415T>C (p.Leu805=)
c.1440T>C (p.Leu480=)
c.2154T>C (p.Leu718=)
c.3132T>C (p.Leu1044=)
n.2950T>C
n.3158T>C
1g.197434860T>GCA422672597CRB1c.2997T>G (p.Leu999=)
c.1878T>G (p.Leu626=)
c.1140T>G (p.Leu380=)
c.2661T>G (p.Leu887=)
c.2925T>G (p.Leu975=)
c.2129-740T>G (n.2129-740T>G)
n.2998T>G
n.3206T>G
c.2415T>G (p.Leu805=)
c.1440T>G (p.Leu480=)
c.2154T>G (p.Leu718=)
c.3132T>G (p.Leu1044=)
n.2950T>G
n.3158T>G
1g.197434861A>CCA344044394CRB1c.2998A>C (p.Asn1000His)
c.1879A>C (p.Asn627His)
c.1141A>C (p.Asn381His)
c.2662A>C (p.Asn888His)
c.2926A>C (p.Asn976His)
c.2129-739A>C (n.2129-739A>C)
n.2999A>C
n.3207A>C
c.2416A>C (p.Asn806His)
c.1441A>C (p.Asn481His)
c.2155A>C (p.Asn719His)
c.3133A>C (p.Asn1045His)
n.2951A>C
n.3159A>C
1g.197434861A>GCA344044393CRB1c.2998A>G (p.Asn1000Asp)
c.1879A>G (p.Asn627Asp)
c.1141A>G (p.Asn381Asp)
c.2662A>G (p.Asn888Asp)
c.2926A>G (p.Asn976Asp)
c.2129-739A>G (n.2129-739A>G)
n.2999A>G
n.3207A>G
c.2416A>G (p.Asn806Asp)
c.1441A>G (p.Asn481Asp)
c.2155A>G (p.Asn719Asp)
c.3133A>G (p.Asn1045Asp)
n.2951A>G
n.3159A>G
1g.197434861A>TCA344044391CRB1c.2998A>T (p.Asn1000Tyr)
c.1879A>T (p.Asn627Tyr)
c.1141A>T (p.Asn381Tyr)
c.2662A>T (p.Asn888Tyr)
c.2926A>T (p.Asn976Tyr)
c.2129-739A>T (n.2129-739A>T)
n.2999A>T
n.3207A>T
c.2416A>T (p.Asn806Tyr)
c.1441A>T (p.Asn481Tyr)
c.2155A>T (p.Asn719Tyr)
c.3133A>T (p.Asn1045Tyr)
n.2951A>T
n.3159A>T
1g.197434862A=CA1218068698CRB1c.2999A= (p.Asn1000=)
c.1880A= (p.Asn627=)
c.1142A= (p.Asn381=)
c.2663A= (p.Asn888=)
c.2927A= (p.Asn976=)
c.2129-738A= (n.2129-738A=)
n.3000A=
n.3208A=
c.2417A= (p.Asn806=)
c.1442A= (p.Asn481=)
c.2156A= (p.Asn719=)
c.3134A= (p.Asn1045=)
n.2952A=
n.3160A=
1g.197434862A>CCA344044395CRB1c.2999A>C (p.Asn1000Thr)
c.1880A>C (p.Asn627Thr)
c.1142A>C (p.Asn381Thr)
c.2663A>C (p.Asn888Thr)
c.2927A>C (p.Asn976Thr)
c.2129-738A>C (n.2129-738A>C)
n.3000A>C
n.3208A>C
c.2417A>C (p.Asn806Thr)
c.1442A>C (p.Asn481Thr)
c.2156A>C (p.Asn719Thr)
c.3134A>C (p.Asn1045Thr)
n.2952A>C
n.3160A>C
 dbSNP
1g.197434862A>GCA344044399CRB1c.2999A>G (p.Asn1000Ser)
c.1880A>G (p.Asn627Ser)
c.1142A>G (p.Asn381Ser)
c.2663A>G (p.Asn888Ser)
c.2927A>G (p.Asn976Ser)
c.2129-738A>G (n.2129-738A>G)
n.3000A>G
n.3208A>G
c.2417A>G (p.Asn806Ser)
c.1442A>G (p.Asn481Ser)
c.2156A>G (p.Asn719Ser)
c.3134A>G (p.Asn1045Ser)
n.2952A>G
n.3160A>G
1g.197434862A>TCA344044401CRB1c.2999A>T (p.Asn1000Ile)
c.1880A>T (p.Asn627Ile)
c.1142A>T (p.Asn381Ile)
c.2663A>T (p.Asn888Ile)
c.2927A>T (p.Asn976Ile)
c.2129-738A>T (n.2129-738A>T)
n.3000A>T
n.3208A>T
c.2417A>T (p.Asn806Ile)
c.1442A>T (p.Asn481Ile)
c.2156A>T (p.Asn719Ile)
c.3134A>T (p.Asn1045Ile)
n.2952A>T
n.3160A>T
 gnomAD v4
1g.197434863T>ACA344044403CRB1c.3000T>A (p.Asn1000Lys)
c.1881T>A (p.Asn627Lys)
c.1143T>A (p.Asn381Lys)
c.2664T>A (p.Asn888Lys)
c.2928T>A (p.Asn976Lys)
c.2129-737T>A (n.2129-737T>A)
n.3001T>A
n.3209T>A
c.2418T>A (p.Asn806Lys)
c.1443T>A (p.Asn481Lys)
c.2157T>A (p.Asn719Lys)
c.3135T>A (p.Asn1045Lys)
n.2953T>A
n.3161T>A
1g.197434863T>CCA422672600CRB1c.3000T>C (p.Asn1000=)
c.1881T>C (p.Asn627=)
c.1143T>C (p.Asn381=)
c.2664T>C (p.Asn888=)
c.2928T>C (p.Asn976=)
c.2129-737T>C (n.2129-737T>C)
n.3001T>C
n.3209T>C
c.2418T>C (p.Asn806=)
c.1443T>C (p.Asn481=)
c.2157T>C (p.Asn719=)
c.3135T>C (p.Asn1045=)
n.2953T>C
n.3161T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197434863T>GCA344044404CRB1c.3000T>G (p.Asn1000Lys)
c.1881T>G (p.Asn627Lys)
c.1143T>G (p.Asn381Lys)
c.2664T>G (p.Asn888Lys)
c.2928T>G (p.Asn976Lys)
c.2129-737T>G (n.2129-737T>G)
n.3001T>G
n.3209T>G
c.2418T>G (p.Asn806Lys)
c.1443T>G (p.Asn481Lys)
c.2157T>G (p.Asn719Lys)
c.3135T>G (p.Asn1045Lys)
n.2953T>G
n.3161T>G
1g.197434863T=CA1218068699CRB1c.3000T= (p.Asn1000=)
c.1881T= (p.Asn627=)
c.1143T= (p.Asn381=)
c.2664T= (p.Asn888=)
c.2928T= (p.Asn976=)
c.2129-737T= (n.2129-737T=)
n.3001T=
n.3209T=
c.2418T= (p.Asn806=)
c.1443T= (p.Asn481=)
c.2157T= (p.Asn719=)
c.3135T= (p.Asn1045=)
n.2953T=
n.3161T=
1g.197434864A=CA1218068700CRB1c.3001A= (p.Ile1001=)
c.1882A= (p.Ile628=)
c.1144A= (p.Ile382=)
c.2665A= (p.Ile889=)
c.2929A= (p.Ile977=)
c.2129-736A= (n.2129-736A=)
n.3002A=
n.3210A=
c.2419A= (p.Ile807=)
c.1444A= (p.Ile482=)
c.2158A= (p.Ile720=)
c.3136A= (p.Ile1046=)
n.2954A=
n.3162A=
1g.197434864A>CCA344044405CRB1c.3001A>C (p.Ile1001Leu)
c.1882A>C (p.Ile628Leu)
c.1144A>C (p.Ile382Leu)
c.2665A>C (p.Ile889Leu)
c.2929A>C (p.Ile977Leu)
c.2129-736A>C (n.2129-736A>C)
n.3002A>C
n.3210A>C
c.2419A>C (p.Ile807Leu)
c.1444A>C (p.Ile482Leu)
c.2158A>C (p.Ile720Leu)
c.3136A>C (p.Ile1046Leu)
n.2954A>C
n.3162A>C
1g.197434864A>GCA344044407CRB1c.3001A>G (p.Ile1001Val)
c.1882A>G (p.Ile628Val)
c.1144A>G (p.Ile382Val)
c.2665A>G (p.Ile889Val)
c.2929A>G (p.Ile977Val)
c.2129-736A>G (n.2129-736A>G)
n.3002A>G
n.3210A>G
c.2419A>G (p.Ile807Val)
c.1444A>G (p.Ile482Val)
c.2158A>G (p.Ile720Val)
c.3136A>G (p.Ile1046Val)
n.2954A>G
n.3162A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197434864A>TCA344044411CRB1c.3001A>T (p.Ile1001Phe)
c.1882A>T (p.Ile628Phe)
c.1144A>T (p.Ile382Phe)
c.2665A>T (p.Ile889Phe)
c.2929A>T (p.Ile977Phe)
c.2129-736A>T (n.2129-736A>T)
n.3002A>T
n.3210A>T
c.2419A>T (p.Ile807Phe)
c.1444A>T (p.Ile482Phe)
c.2158A>T (p.Ile720Phe)
c.3136A>T (p.Ile1046Phe)
n.2954A>T
n.3162A>T
1g.197434865T>ACA344044413CRB1c.3002T>A (p.Ile1001Asn)
c.1883T>A (p.Ile628Asn)
c.1145T>A (p.Ile382Asn)
c.2666T>A (p.Ile889Asn)
c.2930T>A (p.Ile977Asn)
c.2129-735T>A (n.2129-735T>A)
n.3003T>A
n.3211T>A
c.2420T>A (p.Ile807Asn)
c.1445T>A (p.Ile482Asn)
c.2159T>A (p.Ile720Asn)
c.3137T>A (p.Ile1046Asn)
n.2955T>A
n.3163T>A
1g.197434865T>CCA344044414CRB1c.3002T>C (p.Ile1001Thr)
c.1883T>C (p.Ile628Thr)
c.1145T>C (p.Ile382Thr)
c.2666T>C (p.Ile889Thr)
c.2930T>C (p.Ile977Thr)
c.2129-735T>C (n.2129-735T>C)
n.3003T>C
n.3211T>C
c.2420T>C (p.Ile807Thr)
c.1445T>C (p.Ile482Thr)
c.2159T>C (p.Ile720Thr)
c.3137T>C (p.Ile1046Thr)
n.2955T>C
n.3163T>C
1g.197434865T>GCA344044415CRB1c.3002T>G (p.Ile1001Ser)
c.1883T>G (p.Ile628Ser)
c.1145T>G (p.Ile382Ser)
c.2666T>G (p.Ile889Ser)
c.2930T>G (p.Ile977Ser)
c.2129-735T>G (n.2129-735T>G)
n.3003T>G
n.3211T>G
c.2420T>G (p.Ile807Ser)
c.1445T>G (p.Ile482Ser)
c.2159T>G (p.Ile720Ser)
c.3137T>G (p.Ile1046Ser)
n.2955T>G
n.3163T>G
1g.197434866T>ACA422672602CRB1c.3003T>A (p.Ile1001=)
c.1884T>A (p.Ile628=)
c.1146T>A (p.Ile382=)
c.2667T>A (p.Ile889=)
c.2931T>A (p.Ile977=)
c.2129-734T>A (n.2129-734T>A)
n.3004T>A
n.3212T>A
c.2421T>A (p.Ile807=)
c.1446T>A (p.Ile482=)
c.2160T>A (p.Ile720=)
c.3138T>A (p.Ile1046=)
n.2956T>A
n.3164T>A
 dbSNP
1g.197434866T>CCA422672603CRB1c.3003T>C (p.Ile1001=)
c.1884T>C (p.Ile628=)
c.1146T>C (p.Ile382=)
c.2667T>C (p.Ile889=)
c.2931T>C (p.Ile977=)
c.2129-734T>C (n.2129-734T>C)
n.3004T>C
n.3212T>C
c.2421T>C (p.Ile807=)
c.1446T>C (p.Ile482=)
c.2160T>C (p.Ile720=)
c.3138T>C (p.Ile1046=)
n.2956T>C
n.3164T>C
1g.197434866T>GCA344044417CRB1c.3003T>G (p.Ile1001Met)
c.1884T>G (p.Ile628Met)
c.1146T>G (p.Ile382Met)
c.2667T>G (p.Ile889Met)
c.2931T>G (p.Ile977Met)
c.2129-734T>G (n.2129-734T>G)
n.3004T>G
n.3212T>G
c.2421T>G (p.Ile807Met)
c.1446T>G (p.Ile482Met)
c.2160T>G (p.Ile720Met)
c.3138T>G (p.Ile1046Met)
n.2956T>G
n.3164T>G
1g.197434866T=CA1218068701CRB1c.3003T= (p.Ile1001=)
c.1884T= (p.Ile628=)
c.1146T= (p.Ile382=)
c.2667T= (p.Ile889=)
c.2931T= (p.Ile977=)
c.2129-734T= (n.2129-734T=)
n.3004T=
n.3212T=
c.2421T= (p.Ile807=)
c.1446T= (p.Ile482=)
c.2160T= (p.Ile720=)
c.3138T= (p.Ile1046=)
n.2956T=
n.3164T=
1g.197434867A>CCA344044444CRB1c.3004A>C (p.Ser1002Arg)
c.1885A>C (p.Ser629Arg)
c.1147A>C (p.Ser383Arg)
c.2668A>C (p.Ser890Arg)
c.2932A>C (p.Ser978Arg)
c.2129-733A>C (n.2129-733A>C)
n.3005A>C
n.3213A>C
c.2422A>C (p.Ser808Arg)
c.1447A>C (p.Ser483Arg)
c.2161A>C (p.Ser721Arg)
c.3139A>C (p.Ser1047Arg)
n.2957A>C
n.3165A>C
1g.197434867A>GCA344044441CRB1c.3004A>G (p.Ser1002Gly)
c.1885A>G (p.Ser629Gly)
c.1147A>G (p.Ser383Gly)
c.2668A>G (p.Ser890Gly)
c.2932A>G (p.Ser978Gly)
c.2129-733A>G (n.2129-733A>G)
n.3005A>G
n.3213A>G
c.2422A>G (p.Ser808Gly)
c.1447A>G (p.Ser483Gly)
c.2161A>G (p.Ser721Gly)
c.3139A>G (p.Ser1047Gly)
n.2957A>G
n.3165A>G
1g.197434867A>TCA344044431CRB1c.3004A>T (p.Ser1002Cys)
c.1885A>T (p.Ser629Cys)
c.1147A>T (p.Ser383Cys)
c.2668A>T (p.Ser890Cys)
c.2932A>T (p.Ser978Cys)
c.2129-733A>T (n.2129-733A>T)
n.3005A>T
n.3213A>T
c.2422A>T (p.Ser808Cys)
c.1447A>T (p.Ser483Cys)
c.2161A>T (p.Ser721Cys)
c.3139A>T (p.Ser1047Cys)
n.2957A>T
n.3165A>T
1g.197434868G>ACA344044448CRB1c.3005G>A (p.Ser1002Asn)
c.1886G>A (p.Ser629Asn)
c.1148G>A (p.Ser383Asn)
c.2669G>A (p.Ser890Asn)
c.2933G>A (p.Ser978Asn)
c.2129-732G>A (n.2129-732G>A)
n.3006G>A
n.3214G>A
c.2423G>A (p.Ser808Asn)
c.1448G>A (p.Ser483Asn)
c.2162G>A (p.Ser721Asn)
c.3140G>A (p.Ser1047Asn)
n.2958G>A
n.3166G>A
 dbSNP
1g.197434868G>CCA344044453CRB1c.3005G>C (p.Ser1002Thr)
c.1886G>C (p.Ser629Thr)
c.1148G>C (p.Ser383Thr)
c.2669G>C (p.Ser890Thr)
c.2933G>C (p.Ser978Thr)
c.2129-732G>C (n.2129-732G>C)
n.3006G>C
n.3214G>C
c.2423G>C (p.Ser808Thr)
c.1448G>C (p.Ser483Thr)
c.2162G>C (p.Ser721Thr)
c.3140G>C (p.Ser1047Thr)
n.2958G>C
n.3166G>C
1g.197434868G=CA1218068702CRB1c.3005G= (p.Ser1002=)
c.1886G= (p.Ser629=)
c.1148G= (p.Ser383=)
c.2669G= (p.Ser890=)
c.2933G= (p.Ser978=)
c.2129-732G= (n.2129-732G=)
n.3006G=
n.3214G=
c.2423G= (p.Ser808=)
c.1448G= (p.Ser483=)
c.2162G= (p.Ser721=)
c.3140G= (p.Ser1047=)
n.2958G=
n.3166G=
1g.197434868G>TCA344044449CRB1c.3005G>T (p.Ser1002Ile)
c.1886G>T (p.Ser629Ile)
c.1148G>T (p.Ser383Ile)
c.2669G>T (p.Ser890Ile)
c.2933G>T (p.Ser978Ile)
c.2129-732G>T (n.2129-732G>T)
n.3006G>T
n.3214G>T
c.2423G>T (p.Ser808Ile)
c.1448G>T (p.Ser483Ile)
c.2162G>T (p.Ser721Ile)
c.3140G>T (p.Ser1047Ile)
n.2958G>T
n.3166G>T
 gnomAD v4
1g.197434869C>ACA344044455CRB1c.3006C>A (p.Ser1002Arg)
c.1887C>A (p.Ser629Arg)
c.1149C>A (p.Ser383Arg)
c.2670C>A (p.Ser890Arg)
c.2934C>A (p.Ser978Arg)
c.2129-731C>A (n.2129-731C>A)
n.3007C>A
n.3215C>A
c.2424C>A (p.Ser808Arg)
c.1449C>A (p.Ser483Arg)
c.2163C>A (p.Ser721Arg)
c.3141C>A (p.Ser1047Arg)
n.2959C>A
n.3167C>A
1g.197434869C=CA1218068703CRB1c.3006C= (p.Ser1002=)
c.1887C= (p.Ser629=)
c.1149C= (p.Ser383=)
c.2670C= (p.Ser890=)
c.2934C= (p.Ser978=)
c.2129-731C= (n.2129-731C=)
n.3007C=
n.3215C=
c.2424C= (p.Ser808=)
c.1449C= (p.Ser483=)
c.2163C= (p.Ser721=)
c.3141C= (p.Ser1047=)
n.2959C=
n.3167C=
1g.197434869C>GCA344044457CRB1c.3006C>G (p.Ser1002Arg)
c.1887C>G (p.Ser629Arg)
c.1149C>G (p.Ser383Arg)
c.2670C>G (p.Ser890Arg)
c.2934C>G (p.Ser978Arg)
c.2129-731C>G (n.2129-731C>G)
n.3007C>G
n.3215C>G
c.2424C>G (p.Ser808Arg)
c.1449C>G (p.Ser483Arg)
c.2163C>G (p.Ser721Arg)
c.3141C>G (p.Ser1047Arg)
n.2959C>G
n.3167C>G
1g.197434869C>TCA422672607CRB1c.3006C>T (p.Ser1002=)
c.1887C>T (p.Ser629=)
c.1149C>T (p.Ser383=)
c.2670C>T (p.Ser890=)
c.2934C>T (p.Ser978=)
c.2129-731C>T (n.2129-731C>T)
n.3007C>T
n.3215C>T
c.2424C>T (p.Ser808=)
c.1449C>T (p.Ser483=)
c.2163C>T (p.Ser721=)
c.3141C>T (p.Ser1047=)
n.2959C>T
n.3167C>T
 dbSNP
1g.197434870A=CA1218068704CRB1c.3007A= (p.Ile1003=)
c.1888A= (p.Ile630=)
c.1150A= (p.Ile384=)
c.2671A= (p.Ile891=)
c.2935A= (p.Ile979=)
c.2129-730A= (n.2129-730A=)
n.3008A=
n.3216A=
c.2425A= (p.Ile809=)
c.1450A= (p.Ile484=)
c.2164A= (p.Ile722=)
c.3142A= (p.Ile1048=)
n.2960A=
n.3168A=
1g.197434870A>CCA344044461CRB1c.3007A>C (p.Ile1003Leu)
c.1888A>C (p.Ile630Leu)
c.1150A>C (p.Ile384Leu)
c.2671A>C (p.Ile891Leu)
c.2935A>C (p.Ile979Leu)
c.2129-730A>C (n.2129-730A>C)
n.3008A>C
n.3216A>C
c.2425A>C (p.Ile809Leu)
c.1450A>C (p.Ile484Leu)
c.2164A>C (p.Ile722Leu)
c.3142A>C (p.Ile1048Leu)
n.2960A>C
n.3168A>C
1g.197434870A>GCA344044474CRB1c.3007A>G (p.Ile1003Val)
c.1888A>G (p.Ile630Val)
c.1150A>G (p.Ile384Val)
c.2671A>G (p.Ile891Val)
c.2935A>G (p.Ile979Val)
c.2129-730A>G (n.2129-730A>G)
n.3008A>G
n.3216A>G
c.2425A>G (p.Ile809Val)
c.1450A>G (p.Ile484Val)
c.2164A>G (p.Ile722Val)
c.3142A>G (p.Ile1048Val)
n.2960A>G
n.3168A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197434870A>TCA35906753CRB1c.3007A>T (p.Ile1003Phe)
c.1888A>T (p.Ile630Phe)
c.1150A>T (p.Ile384Phe)
c.2671A>T (p.Ile891Phe)
c.2935A>T (p.Ile979Phe)
c.2129-730A>T (n.2129-730A>T)
n.3008A>T
n.3216A>T
c.2425A>T (p.Ile809Phe)
c.1450A>T (p.Ile484Phe)
c.2164A>T (p.Ile722Phe)
c.3142A>T (p.Ile1048Phe)
n.2960A>T
n.3168A>T
 ClinVar dbSNP gnomAD v4
1g.197434871T>ACA344044480CRB1c.3008T>A (p.Ile1003Asn)
c.1889T>A (p.Ile630Asn)
c.1151T>A (p.Ile384Asn)
c.2672T>A (p.Ile891Asn)
c.2936T>A (p.Ile979Asn)
c.2129-729T>A (n.2129-729T>A)
n.3009T>A
n.3217T>A
c.2426T>A (p.Ile809Asn)
c.1451T>A (p.Ile484Asn)
c.2165T>A (p.Ile722Asn)
c.3143T>A (p.Ile1048Asn)
n.2961T>A
n.3169T>A
1g.197434871T>CCA344044488CRB1c.3008T>C (p.Ile1003Thr)
c.1889T>C (p.Ile630Thr)
c.1151T>C (p.Ile384Thr)
c.2672T>C (p.Ile891Thr)
c.2936T>C (p.Ile979Thr)
c.2129-729T>C (n.2129-729T>C)
n.3009T>C
n.3217T>C
c.2426T>C (p.Ile809Thr)
c.1451T>C (p.Ile484Thr)
c.2165T>C (p.Ile722Thr)
c.3143T>C (p.Ile1048Thr)
n.2961T>C
n.3169T>C
 dbSNP gnomAD v2 gnomAD v4
1g.197434871T>GCA344044482CRB1c.3008T>G (p.Ile1003Ser)
c.1889T>G (p.Ile630Ser)
c.1151T>G (p.Ile384Ser)
c.2672T>G (p.Ile891Ser)
c.2936T>G (p.Ile979Ser)
c.2129-729T>G (n.2129-729T>G)
n.3009T>G
n.3217T>G
c.2426T>G (p.Ile809Ser)
c.1451T>G (p.Ile484Ser)
c.2165T>G (p.Ile722Ser)
c.3143T>G (p.Ile1048Ser)
n.2961T>G
n.3169T>G
1g.197434871T=CA1218068705CRB1c.3008T= (p.Ile1003=)
c.1889T= (p.Ile630=)
c.1151T= (p.Ile384=)
c.2672T= (p.Ile891=)
c.2936T= (p.Ile979=)
c.2129-729T= (n.2129-729T=)
n.3009T=
n.3217T=
c.2426T= (p.Ile809=)
c.1451T= (p.Ile484=)
c.2165T= (p.Ile722=)
c.3143T= (p.Ile1048=)
n.2961T=
n.3169T=
1g.197434872T>ACA422672610CRB1c.3009T>A (p.Ile1003=)
c.1890T>A (p.Ile630=)
c.1152T>A (p.Ile384=)
c.2673T>A (p.Ile891=)
c.2937T>A (p.Ile979=)
c.2129-728T>A (n.2129-728T>A)
n.3010T>A
n.3218T>A
c.2427T>A (p.Ile809=)
c.1452T>A (p.Ile484=)
c.2166T>A (p.Ile722=)
c.3144T>A (p.Ile1048=)
n.2962T>A
n.3170T>A
1g.197434872T>CCA422672609CRB1c.3009T>C (p.Ile1003=)
c.1890T>C (p.Ile630=)
c.1152T>C (p.Ile384=)
c.2673T>C (p.Ile891=)
c.2937T>C (p.Ile979=)
c.2129-728T>C (n.2129-728T>C)
n.3010T>C
n.3218T>C
c.2427T>C (p.Ile809=)
c.1452T>C (p.Ile484=)
c.2166T>C (p.Ile722=)
c.3144T>C (p.Ile1048=)
n.2962T>C
n.3170T>C
1g.197434872T>GCA344044489CRB1c.3009T>G (p.Ile1003Met)
c.1890T>G (p.Ile630Met)
c.1152T>G (p.Ile384Met)
c.2673T>G (p.Ile891Met)
c.2937T>G (p.Ile979Met)
c.2129-728T>G (n.2129-728T>G)
n.3010T>G
n.3218T>G
c.2427T>G (p.Ile809Met)
c.1452T>G (p.Ile484Met)
c.2166T>G (p.Ile722Met)
c.3144T>G (p.Ile1048Met)
n.2962T>G
n.3170T>G
1g.197434873C>ACA344044491CRB1c.3010C>A (p.Gln1004Lys)
c.1891C>A (p.Gln631Lys)
c.1153C>A (p.Gln385Lys)
c.2674C>A (p.Gln892Lys)
c.2938C>A (p.Gln980Lys)
c.2129-727C>A (n.2129-727C>A)
n.3011C>A
n.3219C>A
c.2428C>A (p.Gln810Lys)
c.1453C>A (p.Gln485Lys)
c.2167C>A (p.Gln723Lys)
c.3145C>A (p.Gln1049Lys)
n.2963C>A
n.3171C>A
1g.197434873C=CA1218068706CRB1c.3010C= (p.Gln1004=)
c.1891C= (p.Gln631=)
c.1153C= (p.Gln385=)
c.2674C= (p.Gln892=)
c.2938C= (p.Gln980=)
c.2129-727C= (n.2129-727C=)
n.3011C=
n.3219C=
c.2428C= (p.Gln810=)
c.1453C= (p.Gln485=)
c.2167C= (p.Gln723=)
c.3145C= (p.Gln1049=)
n.2963C=
n.3171C=
1g.197434873C>GCA344044495CRB1c.3010C>G (p.Gln1004Glu)
c.1891C>G (p.Gln631Glu)
c.1153C>G (p.Gln385Glu)
c.2674C>G (p.Gln892Glu)
c.2938C>G (p.Gln980Glu)
c.2129-727C>G (n.2129-727C>G)
n.3011C>G
n.3219C>G
c.2428C>G (p.Gln810Glu)
c.1453C>G (p.Gln485Glu)
c.2167C>G (p.Gln723Glu)
c.3145C>G (p.Gln1049Glu)
n.2963C>G
n.3171C>G
 dbSNP gnomAD v4
1g.197434873C>TCA344044500CRB1c.3010C>T (p.Gln1004Ter)
c.1891C>T (p.Gln631Ter)
c.1153C>T (p.Gln385Ter)
c.2674C>T (p.Gln892Ter)
c.2938C>T (p.Gln980Ter)
c.2129-727C>T (n.2129-727C>T)
n.3011C>T
n.3219C>T
c.2428C>T (p.Gln810Ter)
c.1453C>T (p.Gln485Ter)
c.2167C>T (p.Gln723Ter)
c.3145C>T (p.Gln1049Ter)
n.2963C>T
n.3171C>T
 gnomAD v4
1g.197434874A>CCA344044507CRB1c.3011A>C (p.Gln1004Pro)
c.1892A>C (p.Gln631Pro)
c.1154A>C (p.Gln385Pro)
c.2675A>C (p.Gln892Pro)
c.2939A>C (p.Gln980Pro)
c.2129-726A>C (n.2129-726A>C)
n.3012A>C
n.3220A>C
c.2429A>C (p.Gln810Pro)
c.1454A>C (p.Gln485Pro)
c.2168A>C (p.Gln723Pro)
c.3146A>C (p.Gln1049Pro)
n.2964A>C
n.3172A>C
1g.197434874A>GCA344044509CRB1c.3011A>G (p.Gln1004Arg)
c.1892A>G (p.Gln631Arg)
c.1154A>G (p.Gln385Arg)
c.2675A>G (p.Gln892Arg)
c.2939A>G (p.Gln980Arg)
c.2129-726A>G (n.2129-726A>G)
n.3012A>G
n.3220A>G
c.2429A>G (p.Gln810Arg)
c.1454A>G (p.Gln485Arg)
c.2168A>G (p.Gln723Arg)
c.3146A>G (p.Gln1049Arg)
n.2964A>G
n.3172A>G
1g.197434874A>TCA344044515CRB1c.3011A>T (p.Gln1004Leu)
c.1892A>T (p.Gln631Leu)
c.1154A>T (p.Gln385Leu)
c.2675A>T (p.Gln892Leu)
c.2939A>T (p.Gln980Leu)
c.2129-726A>T (n.2129-726A>T)
n.3012A>T
n.3220A>T
c.2429A>T (p.Gln810Leu)
c.1454A>T (p.Gln485Leu)
c.2168A>T (p.Gln723Leu)
c.3146A>T (p.Gln1049Leu)
n.2964A>T
n.3172A>T
1g.197434875A>CCA344044525CRB1c.3012A>C (p.Gln1004His)
c.1893A>C (p.Gln631His)
c.1155A>C (p.Gln385His)
c.2676A>C (p.Gln892His)
c.2940A>C (p.Gln980His)
c.2129-725A>C (n.2129-725A>C)
n.3013A>C
n.3221A>C
c.2430A>C (p.Gln810His)
c.1455A>C (p.Gln485His)
c.2169A>C (p.Gln723His)
c.3147A>C (p.Gln1049His)
n.2965A>C
n.3173A>C
1g.197434875A>GCA422672612CRB1c.3012A>G (p.Gln1004=)
c.1893A>G (p.Gln631=)
c.1155A>G (p.Gln385=)
c.2676A>G (p.Gln892=)
c.2940A>G (p.Gln980=)
c.2129-725A>G (n.2129-725A>G)
n.3013A>G
n.3221A>G
c.2430A>G (p.Gln810=)
c.1455A>G (p.Gln485=)
c.2169A>G (p.Gln723=)
c.3147A>G (p.Gln1049=)
n.2965A>G
n.3173A>G
 gnomAD v4
1g.197434875A>TCA344044529CRB1c.3012A>T (p.Gln1004His)
c.1893A>T (p.Gln631His)
c.1155A>T (p.Gln385His)
c.2676A>T (p.Gln892His)
c.2940A>T (p.Gln980His)
c.2129-725A>T (n.2129-725A>T)
n.3013A>T
n.3221A>T
c.2430A>T (p.Gln810His)
c.1455A>T (p.Gln485His)
c.2169A>T (p.Gln723His)
c.3147A>T (p.Gln1049His)
n.2965A>T
n.3173A>T
1g.197434875_197434877delinsTTTCA2740090448CRB1c.3012_3014delinsTTT (p.Gln1004_Asp1005delinsHisPhe)
c.1893_1895delinsTTT (p.Gln631_Asp632delinsHisPhe)
c.1155_1157delinsTTT (p.Gln385_Asp386delinsHisPhe)
c.2676_2678delinsTTT (p.Gln892_Asp893delinsHisPhe)
c.2940_2942delinsTTT (p.Gln980_Asp981delinsHisPhe)
c.2129-725_2129-723delinsTTT (n.2129-725_2129-723delinsTTT)
n.3013_3015delinsTTT
n.3221_3223delinsTTT
c.2430_2432delinsTTT (p.Gln810_Asp811delinsHisPhe)
c.1455_1457delinsTTT (p.Gln485_Asp486delinsHisPhe)
c.2169_2171delinsTTT (p.Gln723_Asp724delinsHisPhe)
c.3147_3149delinsTTT (p.Gln1049_Asp1050delinsHisPhe)
n.2965_2967delinsTTT
n.3173_3175delinsTTT
 ClinVar
1g.197434876G>ACA344044535CRB1c.3013G>A (p.Asp1005Asn)
c.1894G>A (p.Asp632Asn)
c.1156G>A (p.Asp386Asn)
c.2677G>A (p.Asp893Asn)
c.2941G>A (p.Asp981Asn)
c.2129-724G>A (n.2129-724G>A)
n.3014G>A
n.3222G>A
c.2431G>A (p.Asp811Asn)
c.1456G>A (p.Asp486Asn)
c.2170G>A (p.Asp724Asn)
c.3148G>A (p.Asp1050Asn)
n.2966G>A
n.3174G>A
 gnomAD v4 COSMIC COSMIC
1g.197434876G>CCA344044543CRB1c.3013G>C (p.Asp1005His)
c.1894G>C (p.Asp632His)
c.1156G>C (p.Asp386His)
c.2677G>C (p.Asp893His)
c.2941G>C (p.Asp981His)
c.2129-724G>C (n.2129-724G>C)
n.3014G>C
n.3222G>C
c.2431G>C (p.Asp811His)
c.1456G>C (p.Asp486His)
c.2170G>C (p.Asp724His)
c.3148G>C (p.Asp1050His)
n.2966G>C
n.3174G>C
1g.197434876G>TCA344044547CRB1c.3013G>T (p.Asp1005Tyr)
c.1894G>T (p.Asp632Tyr)
c.1156G>T (p.Asp386Tyr)
c.2677G>T (p.Asp893Tyr)
c.2941G>T (p.Asp981Tyr)
c.2129-724G>T (n.2129-724G>T)
n.3014G>T
n.3222G>T
c.2431G>T (p.Asp811Tyr)
c.1456G>T (p.Asp486Tyr)
c.2170G>T (p.Asp724Tyr)
c.3148G>T (p.Asp1050Tyr)
n.2966G>T
n.3174G>T
 COSMIC COSMIC
1g.197434877A=CA1143646962CRB1c.3014A= (p.Asp1005=)
c.1895A= (p.Asp632=)
c.1157A= (p.Asp386=)
c.2678A= (p.Asp893=)
c.2942A= (p.Asp981=)
c.2129-723A= (n.2129-723A=)
n.3015A=
n.3223A=
c.2432A= (p.Asp811=)
c.1457A= (p.Asp486=)
c.2171A= (p.Asp724=)
c.3149A= (p.Asp1050=)
n.2967A=
n.3175A=
1g.197434877A>CCA344044566CRB1c.3014A>C (p.Asp1005Ala)
c.1895A>C (p.Asp632Ala)
c.1157A>C (p.Asp386Ala)
c.2678A>C (p.Asp893Ala)
c.2942A>C (p.Asp981Ala)
c.2129-723A>C (n.2129-723A>C)
n.3015A>C
n.3223A>C
c.2432A>C (p.Asp811Ala)
c.1457A>C (p.Asp486Ala)
c.2171A>C (p.Asp724Ala)
c.3149A>C (p.Asp1050Ala)
n.2967A>C
n.3175A>C
1g.197434877A>GCA35906762CRB1c.3014A>G (p.Asp1005Gly)
c.1895A>G (p.Asp632Gly)
c.1157A>G (p.Asp386Gly)
c.2678A>G (p.Asp893Gly)
c.2942A>G (p.Asp981Gly)
c.2129-723A>G (n.2129-723A>G)
n.3015A>G
n.3223A>G
c.2432A>G (p.Asp811Gly)
c.1457A>G (p.Asp486Gly)
c.2171A>G (p.Asp724Gly)
c.3149A>G (p.Asp1050Gly)
n.2967A>G
n.3175A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197434877A>TCA1312260CRB1c.3014A>T (p.Asp1005Val)
c.1895A>T (p.Asp632Val)
c.1157A>T (p.Asp386Val)
c.2678A>T (p.Asp893Val)
c.2942A>T (p.Asp981Val)
c.2129-723A>T (n.2129-723A>T)
n.3015A>T
n.3223A>T
c.2432A>T (p.Asp811Val)
c.1457A>T (p.Asp486Val)
c.2171A>T (p.Asp724Val)
c.3149A>T (p.Asp1050Val)
n.2967A>T
n.3175A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434878T>ACA344044568CRB1c.3015T>A (p.Asp1005Glu)
c.1896T>A (p.Asp632Glu)
c.1158T>A (p.Asp386Glu)
c.2679T>A (p.Asp893Glu)
c.2943T>A (p.Asp981Glu)
c.2129-722T>A (n.2129-722T>A)
n.3016T>A
n.3224T>A
c.2433T>A (p.Asp811Glu)
c.1458T>A (p.Asp486Glu)
c.2172T>A (p.Asp724Glu)
c.3150T>A (p.Asp1050Glu)
n.2968T>A
n.3176T>A
1g.197434878T>CCA422672613CRB1c.3015T>C (p.Asp1005=)
c.1896T>C (p.Asp632=)
c.1158T>C (p.Asp386=)
c.2679T>C (p.Asp893=)
c.2943T>C (p.Asp981=)
c.2129-722T>C (n.2129-722T>C)
n.3016T>C
n.3224T>C
c.2433T>C (p.Asp811=)
c.1458T>C (p.Asp486=)
c.2172T>C (p.Asp724=)
c.3150T>C (p.Asp1050=)
n.2968T>C
n.3176T>C
1g.197434878T>GCA344044569CRB1c.3015T>G (p.Asp1005Glu)
c.1896T>G (p.Asp632Glu)
c.1158T>G (p.Asp386Glu)
c.2679T>G (p.Asp893Glu)
c.2943T>G (p.Asp981Glu)
c.2129-722T>G (n.2129-722T>G)
n.3016T>G
n.3224T>G
c.2433T>G (p.Asp811Glu)
c.1458T>G (p.Asp486Glu)
c.2172T>G (p.Asp724Glu)
c.3150T>G (p.Asp1050Glu)
n.2968T>G
n.3176T>G
1g.197434879T>ACA344044572CRB1c.3016T>A (p.Ser1006Thr)
c.1897T>A (p.Ser633Thr)
c.1159T>A (p.Ser387Thr)
c.2680T>A (p.Ser894Thr)
c.2944T>A (p.Ser982Thr)
c.2129-721T>A (n.2129-721T>A)
n.3017T>A
n.3225T>A
c.2434T>A (p.Ser812Thr)
c.1459T>A (p.Ser487Thr)
c.2173T>A (p.Ser725Thr)
c.3151T>A (p.Ser1051Thr)
n.2969T>A
n.3177T>A
 dbSNP gnomAD v4
1g.197434879T>CCA35906782CRB1c.3016T>C (p.Ser1006Pro)
c.1897T>C (p.Ser633Pro)
c.1159T>C (p.Ser387Pro)
c.2680T>C (p.Ser894Pro)
c.2944T>C (p.Ser982Pro)
c.2129-721T>C (n.2129-721T>C)
n.3017T>C
n.3225T>C
c.2434T>C (p.Ser812Pro)
c.1459T>C (p.Ser487Pro)
c.2173T>C (p.Ser725Pro)
c.3151T>C (p.Ser1051Pro)
n.2969T>C
n.3177T>C
 dbSNP
1g.197434879T>GCA344044586CRB1c.3016T>G (p.Ser1006Ala)
c.1897T>G (p.Ser633Ala)
c.1159T>G (p.Ser387Ala)
c.2680T>G (p.Ser894Ala)
c.2944T>G (p.Ser982Ala)
c.2129-721T>G (n.2129-721T>G)
n.3017T>G
n.3225T>G
c.2434T>G (p.Ser812Ala)
c.1459T>G (p.Ser487Ala)
c.2173T>G (p.Ser725Ala)
c.3151T>G (p.Ser1051Ala)
n.2969T>G
n.3177T>G
1g.197434879T=CA1218068707CRB1c.3016T= (p.Ser1006=)
c.1897T= (p.Ser633=)
c.1159T= (p.Ser387=)
c.2680T= (p.Ser894=)
c.2944T= (p.Ser982=)
c.2129-721T= (n.2129-721T=)
n.3017T=
n.3225T=
c.2434T= (p.Ser812=)
c.1459T= (p.Ser487=)
c.2173T= (p.Ser725=)
c.3151T= (p.Ser1051=)
n.2969T=
n.3177T=
1g.197434880C>ACA344044595CRB1c.3017C>A (p.Ser1006Tyr)
c.1898C>A (p.Ser633Tyr)
c.1160C>A (p.Ser387Tyr)
c.2681C>A (p.Ser894Tyr)
c.2945C>A (p.Ser982Tyr)
c.2129-720C>A (n.2129-720C>A)
n.3018C>A
n.3226C>A
c.2435C>A (p.Ser812Tyr)
c.1460C>A (p.Ser487Tyr)
c.2174C>A (p.Ser725Tyr)
c.3152C>A (p.Ser1051Tyr)
n.2970C>A
n.3178C>A
 ClinVar
1g.197434880C=CA1218068708CRB1c.3017C= (p.Ser1006=)
c.1898C= (p.Ser633=)
c.1160C= (p.Ser387=)
c.2681C= (p.Ser894=)
c.2945C= (p.Ser982=)
c.2129-720C= (n.2129-720C=)
n.3018C=
n.3226C=
c.2435C= (p.Ser812=)
c.1460C= (p.Ser487=)
c.2174C= (p.Ser725=)
c.3152C= (p.Ser1051=)
n.2970C=
n.3178C=
1g.197434880C>GCA344044597CRB1c.3017C>G (p.Ser1006Cys)
c.1898C>G (p.Ser633Cys)
c.1160C>G (p.Ser387Cys)
c.2681C>G (p.Ser894Cys)
c.2945C>G (p.Ser982Cys)
c.2129-720C>G (n.2129-720C>G)
n.3018C>G
n.3226C>G
c.2435C>G (p.Ser812Cys)
c.1460C>G (p.Ser487Cys)
c.2174C>G (p.Ser725Cys)
c.3152C>G (p.Ser1051Cys)
n.2970C>G
n.3178C>G
1g.197434880C>TCA10581632CRB1c.3017C>T (p.Ser1006Phe)
c.1898C>T (p.Ser633Phe)
c.1160C>T (p.Ser387Phe)
c.2681C>T (p.Ser894Phe)
c.2945C>T (p.Ser982Phe)
c.2129-720C>T (n.2129-720C>T)
n.3018C>T
n.3226C>T
c.2435C>T (p.Ser812Phe)
c.1460C>T (p.Ser487Phe)
c.2174C>T (p.Ser725Phe)
c.3152C>T (p.Ser1051Phe)
n.2970C>T
n.3178C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.197434881C>ACA422808695CRB1c.3018C>A (p.Ser1006=)
c.1899C>A (p.Ser633=)
c.1161C>A (p.Ser387=)
c.2682C>A (p.Ser894=)
c.2946C>A (p.Ser982=)
c.2129-719C>A (n.2129-719C>A)
n.3019C>A
n.3227C>A
c.2436C>A (p.Ser812=)
c.1461C>A (p.Ser487=)
c.2175C>A (p.Ser725=)
c.3153C>A (p.Ser1051=)
n.2971C>A
n.3179C>A
1g.197434881C>GCA422808697CRB1c.3018C>G (p.Ser1006=)
c.1899C>G (p.Ser633=)
c.1161C>G (p.Ser387=)
c.2682C>G (p.Ser894=)
c.2946C>G (p.Ser982=)
c.2129-719C>G (n.2129-719C>G)
n.3019C>G
n.3227C>G
c.2436C>G (p.Ser812=)
c.1461C>G (p.Ser487=)
c.2175C>G (p.Ser725=)
c.3153C>G (p.Ser1051=)
n.2971C>G
n.3179C>G
1g.197434881C>TCA422808698CRB1c.3018C>T (p.Ser1006=)
c.1899C>T (p.Ser633=)
c.1161C>T (p.Ser387=)
c.2682C>T (p.Ser894=)
c.2946C>T (p.Ser982=)
c.2129-719C>T (n.2129-719C>T)
n.3019C>T
n.3227C>T
c.2436C>T (p.Ser812=)
c.1461C>T (p.Ser487=)
c.2175C>T (p.Ser725=)
c.3153C>T (p.Ser1051=)
n.2971C>T
n.3179C>T
1g.197434882A>CCA422808699CRB1c.3019A>C (p.Arg1007=)
c.1900A>C (p.Arg634=)
c.1162A>C (p.Arg388=)
c.2683A>C (p.Arg895=)
c.2947A>C (p.Arg983=)
c.2129-718A>C (n.2129-718A>C)
n.3020A>C
n.3228A>C
c.2437A>C (p.Arg813=)
c.1462A>C (p.Arg488=)
c.2176A>C (p.Arg726=)
c.3154A>C (p.Arg1052=)
n.2972A>C
n.3180A>C
 gnomAD v4
1g.197434882A>GCA344044600CRB1c.3019A>G (p.Arg1007Gly)
c.1900A>G (p.Arg634Gly)
c.1162A>G (p.Arg388Gly)
c.2683A>G (p.Arg895Gly)
c.2947A>G (p.Arg983Gly)
c.2129-718A>G (n.2129-718A>G)
n.3020A>G
n.3228A>G
c.2437A>G (p.Arg813Gly)
c.1462A>G (p.Arg488Gly)
c.2176A>G (p.Arg726Gly)
c.3154A>G (p.Arg1052Gly)
n.2972A>G
n.3180A>G
1g.197434882A>TCA344044605CRB1c.3019A>T (p.Arg1007Ter)
c.1900A>T (p.Arg634Ter)
c.1162A>T (p.Arg388Ter)
c.2683A>T (p.Arg895Ter)
c.2947A>T (p.Arg983Ter)
c.2129-718A>T (n.2129-718A>T)
n.3020A>T
n.3228A>T
c.2437A>T (p.Arg813Ter)
c.1462A>T (p.Arg488Ter)
c.2176A>T (p.Arg726Ter)
c.3154A>T (p.Arg1052Ter)
n.2972A>T
n.3180A>T
1g.197434883G>ACA344044609CRB1c.3020G>A (p.Arg1007Lys)
c.1901G>A (p.Arg634Lys)
c.1163G>A (p.Arg388Lys)
c.2684G>A (p.Arg895Lys)
c.2948G>A (p.Arg983Lys)
c.2129-717G>A (n.2129-717G>A)
n.3021G>A
n.3229G>A
c.2438G>A (p.Arg813Lys)
c.1463G>A (p.Arg488Lys)
c.2177G>A (p.Arg726Lys)
c.3155G>A (p.Arg1052Lys)
n.2973G>A
n.3181G>A
 COSMIC
1g.197434883G>CCA344044608CRB1c.3020G>C (p.Arg1007Thr)
c.1901G>C (p.Arg634Thr)
c.1163G>C (p.Arg388Thr)
c.2684G>C (p.Arg895Thr)
c.2948G>C (p.Arg983Thr)
c.2129-717G>C (n.2129-717G>C)
n.3021G>C
n.3229G>C
c.2438G>C (p.Arg813Thr)
c.1463G>C (p.Arg488Thr)
c.2177G>C (p.Arg726Thr)
c.3155G>C (p.Arg1052Thr)
n.2973G>C
n.3181G>C
 gnomAD v4
1g.197434883G=CA1148463359CRB1c.3020G= (p.Arg1007=)
c.1901G= (p.Arg634=)
c.1163G= (p.Arg388=)
c.2684G= (p.Arg895=)
c.2948G= (p.Arg983=)
c.2129-717G= (n.2129-717G=)
n.3021G=
n.3229G=
c.2438G= (p.Arg813=)
c.1463G= (p.Arg488=)
c.2177G= (p.Arg726=)
c.3155G= (p.Arg1052=)
n.2973G=
n.3181G=
1g.197434883G>TCA1312261CRB1c.3020G>T (p.Arg1007Ile)
c.1901G>T (p.Arg634Ile)
c.1163G>T (p.Arg388Ile)
c.2684G>T (p.Arg895Ile)
c.2948G>T (p.Arg983Ile)
c.2129-717G>T (n.2129-717G>T)
n.3021G>T
n.3229G>T
c.2438G>T (p.Arg813Ile)
c.1463G>T (p.Arg488Ile)
c.2177G>T (p.Arg726Ile)
c.3155G>T (p.Arg1052Ile)
n.2973G>T
n.3181G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434884A=CA1218068709CRB1c.3021A= (p.Arg1007=)
c.1902A= (p.Arg634=)
c.1164A= (p.Arg388=)
c.2685A= (p.Arg895=)
c.2949A= (p.Arg983=)
c.2129-716A= (n.2129-716A=)
n.3022A=
n.3230A=
c.2439A= (p.Arg813=)
c.1464A= (p.Arg488=)
c.2178A= (p.Arg726=)
c.3156A= (p.Arg1052=)
n.2974A=
n.3182A=
1g.197434884A>CCA344044610CRB1c.3021A>C (p.Arg1007Ser)
c.1902A>C (p.Arg634Ser)
c.1164A>C (p.Arg388Ser)
c.2685A>C (p.Arg895Ser)
c.2949A>C (p.Arg983Ser)
c.2129-716A>C (n.2129-716A>C)
n.3022A>C
n.3230A>C
c.2439A>C (p.Arg813Ser)
c.1464A>C (p.Arg488Ser)
c.2178A>C (p.Arg726Ser)
c.3156A>C (p.Arg1052Ser)
n.2974A>C
n.3182A>C
1g.197434884A>GCA422808704CRB1c.3021A>G (p.Arg1007=)
c.1902A>G (p.Arg634=)
c.1164A>G (p.Arg388=)
c.2685A>G (p.Arg895=)
c.2949A>G (p.Arg983=)
c.2129-716A>G (n.2129-716A>G)
n.3022A>G
n.3230A>G
c.2439A>G (p.Arg813=)
c.1464A>G (p.Arg488=)
c.2178A>G (p.Arg726=)
c.3156A>G (p.Arg1052=)
n.2974A>G
n.3182A>G
 dbSNP gnomAD v2 gnomAD v4
1g.197434884A>TCA344044613CRB1c.3021A>T (p.Arg1007Ser)
c.1902A>T (p.Arg634Ser)
c.1164A>T (p.Arg388Ser)
c.2685A>T (p.Arg895Ser)
c.2949A>T (p.Arg983Ser)
c.2129-716A>T (n.2129-716A>T)
n.3022A>T
n.3230A>T
c.2439A>T (p.Arg813Ser)
c.1464A>T (p.Arg488Ser)
c.2178A>T (p.Arg726Ser)
c.3156A>T (p.Arg1052Ser)
n.2974A>T
n.3182A>T
1g.197434885T>ACA344044621CRB1c.3022T>A (p.Leu1008Ile)
c.1903T>A (p.Leu635Ile)
c.1165T>A (p.Leu389Ile)
c.2686T>A (p.Leu896Ile)
c.2950T>A (p.Leu984Ile)
c.2129-715T>A (n.2129-715T>A)
n.3023T>A
n.3231T>A
c.2440T>A (p.Leu814Ile)
c.1465T>A (p.Leu489Ile)
c.2179T>A (p.Leu727Ile)
c.3157T>A (p.Leu1053Ile)
n.2975T>A
n.3183T>A
1g.197434885T>CCA422808708CRB1c.3022T>C (p.Leu1008=)
c.1903T>C (p.Leu635=)
c.1165T>C (p.Leu389=)
c.2686T>C (p.Leu896=)
c.2950T>C (p.Leu984=)
c.2129-715T>C (n.2129-715T>C)
n.3023T>C
n.3231T>C
c.2440T>C (p.Leu814=)
c.1465T>C (p.Leu489=)
c.2179T>C (p.Leu727=)
c.3157T>C (p.Leu1053=)
n.2975T>C
n.3183T>C
1g.197434885T>GCA344044626CRB1c.3022T>G (p.Leu1008Val)
c.1903T>G (p.Leu635Val)
c.1165T>G (p.Leu389Val)
c.2686T>G (p.Leu896Val)
c.2950T>G (p.Leu984Val)
c.2129-715T>G (n.2129-715T>G)
n.3023T>G
n.3231T>G
c.2440T>G (p.Leu814Val)
c.1465T>G (p.Leu489Val)
c.2179T>G (p.Leu727Val)
c.3157T>G (p.Leu1053Val)
n.2975T>G
n.3183T>G
1g.197434886T>ACA344044642CRB1c.3023T>A (p.Leu1008Ter)
c.1904T>A (p.Leu635Ter)
c.1166T>A (p.Leu389Ter)
c.2687T>A (p.Leu896Ter)
c.2951T>A (p.Leu984Ter)
c.2129-714T>A (n.2129-714T>A)
n.3024T>A
n.3232T>A
c.2441T>A (p.Leu814Ter)
c.1466T>A (p.Leu489Ter)
c.2180T>A (p.Leu727Ter)
c.3158T>A (p.Leu1053Ter)
n.2976T>A
n.3184T>A
1g.197434886T>CCA1312262CRB1c.3023T>C (p.Leu1008Ser)
c.1904T>C (p.Leu635Ser)
c.1166T>C (p.Leu389Ser)
c.2687T>C (p.Leu896Ser)
c.2951T>C (p.Leu984Ser)
c.2129-714T>C (n.2129-714T>C)
n.3024T>C
n.3232T>C
c.2441T>C (p.Leu814Ser)
c.1466T>C (p.Leu489Ser)
c.2180T>C (p.Leu727Ser)
c.3158T>C (p.Leu1053Ser)
n.2976T>C
n.3184T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434886T>GCA344044652CRB1c.3023T>G (p.Leu1008Ter)
c.1904T>G (p.Leu635Ter)
c.1166T>G (p.Leu389Ter)
c.2687T>G (p.Leu896Ter)
c.2951T>G (p.Leu984Ter)
c.2129-714T>G (n.2129-714T>G)
n.3024T>G
n.3232T>G
c.2441T>G (p.Leu814Ter)
c.1466T>G (p.Leu489Ter)
c.2180T>G (p.Leu727Ter)
c.3158T>G (p.Leu1053Ter)
n.2976T>G
n.3184T>G
1g.197434886T=CA1148010664CRB1c.3023T= (p.Leu1008=)
c.1904T= (p.Leu635=)
c.1166T= (p.Leu389=)
c.2687T= (p.Leu896=)
c.2951T= (p.Leu984=)
c.2129-714T= (n.2129-714T=)
n.3024T=
n.3232T=
c.2441T= (p.Leu814=)
c.1466T= (p.Leu489=)
c.2180T= (p.Leu727=)
c.3158T= (p.Leu1053=)
n.2976T=
n.3184T=
1g.197434887A>CCA344044657CRB1c.3024A>C (p.Leu1008Phe)
c.1905A>C (p.Leu635Phe)
c.1167A>C (p.Leu389Phe)
c.2688A>C (p.Leu896Phe)
c.2952A>C (p.Leu984Phe)
c.2129-713A>C (n.2129-713A>C)
n.3025A>C
n.3233A>C
c.2442A>C (p.Leu814Phe)
c.1467A>C (p.Leu489Phe)
c.2181A>C (p.Leu727Phe)
c.3159A>C (p.Leu1053Phe)
n.2977A>C
n.3185A>C
1g.197434887A>GCA422808710CRB1c.3024A>G (p.Leu1008=)
c.1905A>G (p.Leu635=)
c.1167A>G (p.Leu389=)
c.2688A>G (p.Leu896=)
c.2952A>G (p.Leu984=)
c.2129-713A>G (n.2129-713A>G)
n.3025A>G
n.3233A>G
c.2442A>G (p.Leu814=)
c.1467A>G (p.Leu489=)
c.2181A>G (p.Leu727=)
c.3159A>G (p.Leu1053=)
n.2977A>G
n.3185A>G
1g.197434887A>TCA344044659CRB1c.3024A>T (p.Leu1008Phe)
c.1905A>T (p.Leu635Phe)
c.1167A>T (p.Leu389Phe)
c.2688A>T (p.Leu896Phe)
c.2952A>T (p.Leu984Phe)
c.2129-713A>T (n.2129-713A>T)
n.3025A>T
n.3233A>T
c.2442A>T (p.Leu814Phe)
c.1467A>T (p.Leu489Phe)
c.2181A>T (p.Leu727Phe)
c.3159A>T (p.Leu1053Phe)
n.2977A>T
n.3185A>T
1g.197434888T>ACA344044664CRB1c.3025T>A (p.Phe1009Ile)
c.1906T>A (p.Phe636Ile)
c.1168T>A (p.Phe390Ile)
c.2689T>A (p.Phe897Ile)
c.2953T>A (p.Phe985Ile)
c.2129-712T>A (n.2129-712T>A)
n.3026T>A
n.3234T>A
c.2443T>A (p.Phe815Ile)
c.1468T>A (p.Phe490Ile)
c.2182T>A (p.Phe728Ile)
c.3160T>A (p.Phe1054Ile)
n.2978T>A
n.3186T>A
1g.197434888T>CCA344044665CRB1c.3025T>C (p.Phe1009Leu)
c.1906T>C (p.Phe636Leu)
c.1168T>C (p.Phe390Leu)
c.2689T>C (p.Phe897Leu)
c.2953T>C (p.Phe985Leu)
c.2129-712T>C (n.2129-712T>C)
n.3026T>C
n.3234T>C
c.2443T>C (p.Phe815Leu)
c.1468T>C (p.Phe490Leu)
c.2182T>C (p.Phe728Leu)
c.3160T>C (p.Phe1054Leu)
n.2978T>C
n.3186T>C
1g.197434888T>GCA344044670CRB1c.3025T>G (p.Phe1009Val)
c.1906T>G (p.Phe636Val)
c.1168T>G (p.Phe390Val)
c.2689T>G (p.Phe897Val)
c.2953T>G (p.Phe985Val)
c.2129-712T>G (n.2129-712T>G)
n.3026T>G
n.3234T>G
c.2443T>G (p.Phe815Val)
c.1468T>G (p.Phe490Val)
c.2182T>G (p.Phe728Val)
c.3160T>G (p.Phe1054Val)
n.2978T>G
n.3186T>G
 dbSNP
1g.197434888T=CA1218068710CRB1c.3025T= (p.Phe1009=)
c.1906T= (p.Phe636=)
c.1168T= (p.Phe390=)
c.2689T= (p.Phe897=)
c.2953T= (p.Phe985=)
c.2129-712T= (n.2129-712T=)
n.3026T=
n.3234T=
c.2443T= (p.Phe815=)
c.1468T= (p.Phe490=)
c.2182T= (p.Phe728=)
c.3160T= (p.Phe1054=)
n.2978T=
n.3186T=
1g.197434889T>ACA344044687CRB1c.3026T>A (p.Phe1009Tyr)
c.1907T>A (p.Phe636Tyr)
c.1169T>A (p.Phe390Tyr)
c.2690T>A (p.Phe897Tyr)
c.2954T>A (p.Phe985Tyr)
c.2129-711T>A (n.2129-711T>A)
n.3027T>A
n.3235T>A
c.2444T>A (p.Phe815Tyr)
c.1469T>A (p.Phe490Tyr)
c.2183T>A (p.Phe728Tyr)
c.3161T>A (p.Phe1054Tyr)
n.2979T>A
n.3187T>A
1g.197434889T>CCA344044680CRB1c.3026T>C (p.Phe1009Ser)
c.1907T>C (p.Phe636Ser)
c.1169T>C (p.Phe390Ser)
c.2690T>C (p.Phe897Ser)
c.2954T>C (p.Phe985Ser)
c.2129-711T>C (n.2129-711T>C)
n.3027T>C
n.3235T>C
c.2444T>C (p.Phe815Ser)
c.1469T>C (p.Phe490Ser)
c.2183T>C (p.Phe728Ser)
c.3161T>C (p.Phe1054Ser)
n.2979T>C
n.3187T>C
1g.197434889T>GCA344044684CRB1c.3026T>G (p.Phe1009Cys)
c.1907T>G (p.Phe636Cys)
c.1169T>G (p.Phe390Cys)
c.2690T>G (p.Phe897Cys)
c.2954T>G (p.Phe985Cys)
c.2129-711T>G (n.2129-711T>G)
n.3027T>G
n.3235T>G
c.2444T>G (p.Phe815Cys)
c.1469T>G (p.Phe490Cys)
c.2183T>G (p.Phe728Cys)
c.3161T>G (p.Phe1054Cys)
n.2979T>G
n.3187T>G
1g.197434890C>ACA344044691CRB1c.3027C>A (p.Phe1009Leu)
c.1908C>A (p.Phe636Leu)
c.1170C>A (p.Phe390Leu)
c.2691C>A (p.Phe897Leu)
c.2955C>A (p.Phe985Leu)
c.2129-710C>A (n.2129-710C>A)
n.3028C>A
n.3236C>A
c.2445C>A (p.Phe815Leu)
c.1470C>A (p.Phe490Leu)
c.2184C>A (p.Phe728Leu)
c.3162C>A (p.Phe1054Leu)
n.2980C>A
n.3188C>A
 gnomAD v4
1g.197434890C=CA1218068711CRB1c.3027C= (p.Phe1009=)
c.1908C= (p.Phe636=)
c.1170C= (p.Phe390=)
c.2691C= (p.Phe897=)
c.2955C= (p.Phe985=)
c.2129-710C= (n.2129-710C=)
n.3028C=
n.3236C=
c.2445C= (p.Phe815=)
c.1470C= (p.Phe490=)
c.2184C= (p.Phe728=)
c.3162C= (p.Phe1054=)
n.2980C=
n.3188C=
1g.197434890C>GCA344044705CRB1c.3027C>G (p.Phe1009Leu)
c.1908C>G (p.Phe636Leu)
c.1170C>G (p.Phe390Leu)
c.2691C>G (p.Phe897Leu)
c.2955C>G (p.Phe985Leu)
c.2129-710C>G (n.2129-710C>G)
n.3028C>G
n.3236C>G
c.2445C>G (p.Phe815Leu)
c.1470C>G (p.Phe490Leu)
c.2184C>G (p.Phe728Leu)
c.3162C>G (p.Phe1054Leu)
n.2980C>G
n.3188C>G
1g.197434890C>TCA1312263CRB1c.3027C>T (p.Phe1009=)
c.1908C>T (p.Phe636=)
c.1170C>T (p.Phe390=)
c.2691C>T (p.Phe897=)
c.2955C>T (p.Phe985=)
c.2129-710C>T (n.2129-710C>T)
n.3028C>T
n.3236C>T
c.2445C>T (p.Phe815=)
c.1470C>T (p.Phe490=)
c.2184C>T (p.Phe728=)
c.3162C>T (p.Phe1054=)
n.2980C>T
n.3188C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434891T>ACA344044723CRB1c.3028T>A (p.Phe1010Ile)
c.1909T>A (p.Phe637Ile)
c.1171T>A (p.Phe391Ile)
c.2692T>A (p.Phe898Ile)
c.2956T>A (p.Phe986Ile)
c.2129-709T>A (n.2129-709T>A)
n.3029T>A
n.3237T>A
c.2446T>A (p.Phe816Ile)
c.1471T>A (p.Phe491Ile)
c.2185T>A (p.Phe729Ile)
c.3163T>A (p.Phe1055Ile)
n.2981T>A
n.3189T>A
1g.197434891T>CCA344044727CRB1c.3028T>C (p.Phe1010Leu)
c.1909T>C (p.Phe637Leu)
c.1171T>C (p.Phe391Leu)
c.2692T>C (p.Phe898Leu)
c.2956T>C (p.Phe986Leu)
c.2129-709T>C (n.2129-709T>C)
n.3029T>C
n.3237T>C
c.2446T>C (p.Phe816Leu)
c.1471T>C (p.Phe491Leu)
c.2185T>C (p.Phe729Leu)
c.3163T>C (p.Phe1055Leu)
n.2981T>C
n.3189T>C
1g.197434891T>GCA344044735CRB1c.3028T>G (p.Phe1010Val)
c.1909T>G (p.Phe637Val)
c.1171T>G (p.Phe391Val)
c.2692T>G (p.Phe898Val)
c.2956T>G (p.Phe986Val)
c.2129-709T>G (n.2129-709T>G)
n.3029T>G
n.3237T>G
c.2446T>G (p.Phe816Val)
c.1471T>G (p.Phe491Val)
c.2185T>G (p.Phe729Val)
c.3163T>G (p.Phe1055Val)
n.2981T>G
n.3189T>G
1g.197434892T>ACA344044742CRB1c.3029T>A (p.Phe1010Tyr)
c.1910T>A (p.Phe637Tyr)
c.1172T>A (p.Phe391Tyr)
c.2693T>A (p.Phe898Tyr)
c.2957T>A (p.Phe986Tyr)
c.2129-708T>A (n.2129-708T>A)
n.3030T>A
n.3238T>A
c.2447T>A (p.Phe816Tyr)
c.1472T>A (p.Phe491Tyr)
c.2186T>A (p.Phe729Tyr)
c.3164T>A (p.Phe1055Tyr)
n.2982T>A
n.3190T>A
1g.197434892T>CCA344044743CRB1c.3029T>C (p.Phe1010Ser)
c.1910T>C (p.Phe637Ser)
c.1172T>C (p.Phe391Ser)
c.2693T>C (p.Phe898Ser)
c.2957T>C (p.Phe986Ser)
c.2129-708T>C (n.2129-708T>C)
n.3030T>C
n.3238T>C
c.2447T>C (p.Phe816Ser)
c.1472T>C (p.Phe491Ser)
c.2186T>C (p.Phe729Ser)
c.3164T>C (p.Phe1055Ser)
n.2982T>C
n.3190T>C
1g.197434892T>GCA344044744CRB1c.3029T>G (p.Phe1010Cys)
c.1910T>G (p.Phe637Cys)
c.1172T>G (p.Phe391Cys)
c.2693T>G (p.Phe898Cys)
c.2957T>G (p.Phe986Cys)
c.2129-708T>G (n.2129-708T>G)
n.3030T>G
n.3238T>G
c.2447T>G (p.Phe816Cys)
c.1472T>G (p.Phe491Cys)
c.2186T>G (p.Phe729Cys)
c.3164T>G (p.Phe1055Cys)
n.2982T>G
n.3190T>G
1g.197434893T>ACA344044747CRB1c.3030T>A (p.Phe1010Leu)
c.1911T>A (p.Phe637Leu)
c.1173T>A (p.Phe391Leu)
c.2694T>A (p.Phe898Leu)
c.2958T>A (p.Phe986Leu)
c.2129-707T>A (n.2129-707T>A)
n.3031T>A
n.3239T>A
c.2448T>A (p.Phe816Leu)
c.1473T>A (p.Phe491Leu)
c.2187T>A (p.Phe729Leu)
c.3165T>A (p.Phe1055Leu)
n.2983T>A
n.3191T>A
1g.197434893T>CCA422808713CRB1c.3030T>C (p.Phe1010=)
c.1911T>C (p.Phe637=)
c.1173T>C (p.Phe391=)
c.2694T>C (p.Phe898=)
c.2958T>C (p.Phe986=)
c.2129-707T>C (n.2129-707T>C)
n.3031T>C
n.3239T>C
c.2448T>C (p.Phe816=)
c.1473T>C (p.Phe491=)
c.2187T>C (p.Phe729=)
c.3165T>C (p.Phe1055=)
n.2983T>C
n.3191T>C
1g.197434893T>GCA344044749CRB1c.3030T>G (p.Phe1010Leu)
c.1911T>G (p.Phe637Leu)
c.1173T>G (p.Phe391Leu)
c.2694T>G (p.Phe898Leu)
c.2958T>G (p.Phe986Leu)
c.2129-707T>G (n.2129-707T>G)
n.3031T>G
n.3239T>G
c.2448T>G (p.Phe816Leu)
c.1473T>G (p.Phe491Leu)
c.2187T>G (p.Phe729Leu)
c.3165T>G (p.Phe1055Leu)
n.2983T>G
n.3191T>G
1g.197434894C>ACA344044761CRB1c.3031C>A (p.Gln1011Lys)
c.1912C>A (p.Gln638Lys)
c.1174C>A (p.Gln392Lys)
c.2695C>A (p.Gln899Lys)
c.2959C>A (p.Gln987Lys)
c.2129-706C>A (n.2129-706C>A)
n.3032C>A
n.3240C>A
c.2449C>A (p.Gln817Lys)
c.1474C>A (p.Gln492Lys)
c.2188C>A (p.Gln730Lys)
c.3166C>A (p.Gln1056Lys)
n.2984C>A
n.3192C>A
1g.197434894C>GCA344044756CRB1c.3031C>G (p.Gln1011Glu)
c.1912C>G (p.Gln638Glu)
c.1174C>G (p.Gln392Glu)
c.2695C>G (p.Gln899Glu)
c.2959C>G (p.Gln987Glu)
c.2129-706C>G (n.2129-706C>G)
n.3032C>G
n.3240C>G
c.2449C>G (p.Gln817Glu)
c.1474C>G (p.Gln492Glu)
c.2188C>G (p.Gln730Glu)
c.3166C>G (p.Gln1056Glu)
n.2984C>G
n.3192C>G
1g.197434894C>TCA344044753CRB1c.3031C>T (p.Gln1011Ter)
c.1912C>T (p.Gln638Ter)
c.1174C>T (p.Gln392Ter)
c.2695C>T (p.Gln899Ter)
c.2959C>T (p.Gln987Ter)
c.2129-706C>T (n.2129-706C>T)
n.3032C>T
n.3240C>T
c.2449C>T (p.Gln817Ter)
c.1474C>T (p.Gln492Ter)
c.2188C>T (p.Gln730Ter)
c.3166C>T (p.Gln1056Ter)
n.2984C>T
n.3192C>T
1g.197434895A>CCA344044762CRB1c.3032A>C (p.Gln1011Pro)
c.1913A>C (p.Gln638Pro)
c.1175A>C (p.Gln392Pro)
c.2696A>C (p.Gln899Pro)
c.2960A>C (p.Gln987Pro)
c.2129-705A>C (n.2129-705A>C)
n.3033A>C
n.3241A>C
c.2450A>C (p.Gln817Pro)
c.1475A>C (p.Gln492Pro)
c.2189A>C (p.Gln730Pro)
c.3167A>C (p.Gln1056Pro)
n.2985A>C
n.3193A>C
1g.197434895A>GCA344044767CRB1c.3032A>G (p.Gln1011Arg)
c.1913A>G (p.Gln638Arg)
c.1175A>G (p.Gln392Arg)
c.2696A>G (p.Gln899Arg)
c.2960A>G (p.Gln987Arg)
c.2129-705A>G (n.2129-705A>G)
n.3033A>G
n.3241A>G
c.2450A>G (p.Gln817Arg)
c.1475A>G (p.Gln492Arg)
c.2189A>G (p.Gln730Arg)
c.3167A>G (p.Gln1056Arg)
n.2985A>G
n.3193A>G
1g.197434895A>TCA344044764CRB1c.3032A>T (p.Gln1011Leu)
c.1913A>T (p.Gln638Leu)
c.1175A>T (p.Gln392Leu)
c.2696A>T (p.Gln899Leu)
c.2960A>T (p.Gln987Leu)
c.2129-705A>T (n.2129-705A>T)
n.3033A>T
n.3241A>T
c.2450A>T (p.Gln817Leu)
c.1475A>T (p.Gln492Leu)
c.2189A>T (p.Gln730Leu)
c.3167A>T (p.Gln1056Leu)
n.2985A>T
n.3193A>T
1g.197434896A>CCA344044772CRB1c.3033A>C (p.Gln1011His)
c.1914A>C (p.Gln638His)
c.1176A>C (p.Gln392His)
c.2697A>C (p.Gln899His)
c.2961A>C (p.Gln987His)
c.2129-704A>C (n.2129-704A>C)
n.3034A>C
n.3242A>C
c.2451A>C (p.Gln817His)
c.1476A>C (p.Gln492His)
c.2190A>C (p.Gln730His)
c.3168A>C (p.Gln1056His)
n.2986A>C
n.3194A>C
1g.197434896A>GCA422808716CRB1c.3033A>G (p.Gln1011=)
c.1914A>G (p.Gln638=)
c.1176A>G (p.Gln392=)
c.2697A>G (p.Gln899=)
c.2961A>G (p.Gln987=)
c.2129-704A>G (n.2129-704A>G)
n.3034A>G
n.3242A>G
c.2451A>G (p.Gln817=)
c.1476A>G (p.Gln492=)
c.2190A>G (p.Gln730=)
c.3168A>G (p.Gln1056=)
n.2986A>G
n.3194A>G
 gnomAD v4
1g.197434896A>TCA344044778CRB1c.3033A>T (p.Gln1011His)
c.1914A>T (p.Gln638His)
c.1176A>T (p.Gln392His)
c.2697A>T (p.Gln899His)
c.2961A>T (p.Gln987His)
c.2129-704A>T (n.2129-704A>T)
n.3034A>T
n.3242A>T
c.2451A>T (p.Gln817His)
c.1476A>T (p.Gln492His)
c.2190A>T (p.Gln730His)
c.3168A>T (p.Gln1056His)
n.2986A>T
n.3194A>T
1g.197434897T>ACA344044783CRB1c.3034T>A (p.Leu1012Met)
c.1915T>A (p.Leu639Met)
c.1177T>A (p.Leu393Met)
c.2698T>A (p.Leu900Met)
c.2962T>A (p.Leu988Met)
c.2129-703T>A (n.2129-703T>A)
n.3035T>A
n.3243T>A
c.2452T>A (p.Leu818Met)
c.1477T>A (p.Leu493Met)
c.2191T>A (p.Leu731Met)
c.3169T>A (p.Leu1057Met)
n.2987T>A
n.3195T>A
1g.197434897T>CCA422808717CRB1c.3034T>C (p.Leu1012=)
c.1915T>C (p.Leu639=)
c.1177T>C (p.Leu393=)
c.2698T>C (p.Leu900=)
c.2962T>C (p.Leu988=)
c.2129-703T>C (n.2129-703T>C)
n.3035T>C
n.3243T>C
c.2452T>C (p.Leu818=)
c.1477T>C (p.Leu493=)
c.2191T>C (p.Leu731=)
c.3169T>C (p.Leu1057=)
n.2987T>C
n.3195T>C
1g.197434897T>GCA344044786CRB1c.3034T>G (p.Leu1012Val)
c.1915T>G (p.Leu639Val)
c.1177T>G (p.Leu393Val)
c.2698T>G (p.Leu900Val)
c.2962T>G (p.Leu988Val)
c.2129-703T>G (n.2129-703T>G)
n.3035T>G
n.3243T>G
c.2452T>G (p.Leu818Val)
c.1477T>G (p.Leu493Val)
c.2191T>G (p.Leu731Val)
c.3169T>G (p.Leu1057Val)
n.2987T>G
n.3195T>G
1g.197434898T>ACA344044787CRB1c.3035T>A (p.Leu1012Ter)
c.1916T>A (p.Leu639Ter)
c.1178T>A (p.Leu393Ter)
c.2699T>A (p.Leu900Ter)
c.2963T>A (p.Leu988Ter)
c.2129-702T>A (n.2129-702T>A)
n.3036T>A
n.3244T>A
c.2453T>A (p.Leu818Ter)
c.1478T>A (p.Leu493Ter)
c.2192T>A (p.Leu731Ter)
c.3170T>A (p.Leu1057Ter)
n.2988T>A
n.3196T>A
1g.197434898T>CCA344044788CRB1c.3035T>C (p.Leu1012Ser)
c.1916T>C (p.Leu639Ser)
c.1178T>C (p.Leu393Ser)
c.2699T>C (p.Leu900Ser)
c.2963T>C (p.Leu988Ser)
c.2129-702T>C (n.2129-702T>C)
n.3036T>C
n.3244T>C
c.2453T>C (p.Leu818Ser)
c.1478T>C (p.Leu493Ser)
c.2192T>C (p.Leu731Ser)
c.3170T>C (p.Leu1057Ser)
n.2988T>C
n.3196T>C
1g.197434898T>GCA344044789CRB1c.3035T>G (p.Leu1012Trp)
c.1916T>G (p.Leu639Trp)
c.1178T>G (p.Leu393Trp)
c.2699T>G (p.Leu900Trp)
c.2963T>G (p.Leu988Trp)
c.2129-702T>G (n.2129-702T>G)
n.3036T>G
n.3244T>G
c.2453T>G (p.Leu818Trp)
c.1478T>G (p.Leu493Trp)
c.2192T>G (p.Leu731Trp)
c.3170T>G (p.Leu1057Trp)
n.2988T>G
n.3196T>G

Number of alleles fetched