Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.123373623_123373639delCA913142265CRB2c.3092_3108del (p.Pro1031ArgfsTer?)
c.2096_2112del (p.Pro699ArgfsTer?)
n.2206_2222del
c.3065_3081del (p.Pro1022ArgfsTer?)
c.2897_2913del (p.Pro966ArgfsTer?)
 gnomAD v4
9g.123373622_123373637delCA2691590076CRB2c.3091_3106del (p.Pro1031AlafsTer?)
c.2095_2110del (p.Pro699AlafsTer?)
n.2205_2220del
c.3064_3079del (p.Pro1022AlafsTer?)
c.2896_2911del (p.Pro966AlafsTer?)
 gnomAD v4
9g.123373630_123373641delCA2691590083CRB2c.3099_3110del (p.Ala1034_Ala1037del)
c.2103_2114del (p.Ala702_Ala705del)
n.2213_2224del
c.3072_3083del (p.Ala1025_Ala1028del)
c.2904_2915del (p.Ala969_Ala972del)
 gnomAD v4
9g.123373636T>ACA467206498CRB2c.3105T>A (p.Pro1035=)
c.2109T>A (p.Pro703=)
n.2219T>A
c.3078T>A (p.Pro1026=)
c.2910T>A (p.Pro970=)
 gnomAD v4
9g.123373636T>CCA467206504CRB2c.3105T>C (p.Pro1035=)
c.2109T>C (p.Pro703=)
n.2219T>C
c.3078T>C (p.Pro1026=)
c.2910T>C (p.Pro970=)
 dbSNP gnomAD v2 gnomAD v4
9g.123373636T>GCA467206501CRB2c.3105T>G (p.Pro1035=)
c.2109T>G (p.Pro703=)
n.2219T>G
c.3078T>G (p.Pro1026=)
c.2910T>G (p.Pro970=)
 gnomAD v4
9g.123373636T=CA1877939170CRB2c.3105T= (p.Pro1035=)
c.2109T= (p.Pro703=)
n.2219T=
c.3078T= (p.Pro1026=)
c.2910T= (p.Pro970=)
9g.123373637G>ACA374868038CRB2c.3106G>A (p.Gly1036Ser)
c.2110G>A (p.Gly704Ser)
n.2220G>A
c.3079G>A (p.Gly1027Ser)
c.2911G>A (p.Gly971Ser)
 gnomAD v4
9g.123373637G>CCA374868039CRB2c.3106G>C (p.Gly1036Arg)
c.2110G>C (p.Gly704Arg)
n.2220G>C
c.3079G>C (p.Gly1027Arg)
c.2911G>C (p.Gly971Arg)
 gnomAD v4
9g.123373637G=CA1877939175CRB2c.3106G= (p.Gly1036=)
c.2110G= (p.Gly704=)
n.2220G=
c.3079G= (p.Gly1027=)
c.2911G= (p.Gly971=)
9g.123373637G>TCA374868037CRB2c.3106G>T (p.Gly1036Cys)
c.2110G>T (p.Gly704Cys)
n.2220G>T
c.3079G>T (p.Gly1027Cys)
c.2911G>T (p.Gly971Cys)
 dbSNP gnomAD v2 gnomAD v4
9g.123373638G>ACA374868040CRB2c.3107G>A (p.Gly1036Asp)
c.2111G>A (p.Gly704Asp)
n.2221G>A
c.3080G>A (p.Gly1027Asp)
c.2912G>A (p.Gly971Asp)
 gnomAD v4
9g.123373638G>CCA374868041CRB2c.3107G>C (p.Gly1036Ala)
c.2111G>C (p.Gly704Ala)
n.2221G>C
c.3080G>C (p.Gly1027Ala)
c.2912G>C (p.Gly971Ala)
 gnomAD v4
9g.123373638G>TCA374868042CRB2c.3107G>T (p.Gly1036Val)
c.2111G>T (p.Gly704Val)
n.2221G>T
c.3080G>T (p.Gly1027Val)
c.2912G>T (p.Gly971Val)
 gnomAD v4
9g.123373639C>ACA199639072CRB2c.3108C>A (p.Gly1036=)
c.2112C>A (p.Gly704=)
n.2222C>A
c.3081C>A (p.Gly1027=)
c.2913C>A (p.Gly971=)
 dbSNP gnomAD v3 gnomAD v4
9g.123373639C=CA1877939183CRB2c.3108C= (p.Gly1036=)
c.2112C= (p.Gly704=)
n.2222C=
c.3081C= (p.Gly1027=)
c.2913C= (p.Gly971=)
9g.123373639C>GCA467206507CRB2c.3108C>G (p.Gly1036=)
c.2112C>G (p.Gly704=)
n.2222C>G
c.3081C>G (p.Gly1027=)
c.2913C>G (p.Gly971=)
 gnomAD v4
9g.123373639C>TCA5232355CRB2c.3108C>T (p.Gly1036=)
c.2112C>T (p.Gly704=)
n.2222C>T
c.3081C>T (p.Gly1027=)
c.2913C>T (p.Gly971=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.123373640G>ACA374868045CRB2c.3109G>A (p.Ala1037Thr)
c.2113G>A (p.Ala705Thr)
n.2223G>A
c.3082G>A (p.Ala1028Thr)
c.2914G>A (p.Ala972Thr)
 dbSNP gnomAD v2 gnomAD v4
9g.123373640G>CCA374868044CRB2c.3109G>C (p.Ala1037Pro)
c.2113G>C (p.Ala705Pro)
n.2223G>C
c.3082G>C (p.Ala1028Pro)
c.2914G>C (p.Ala972Pro)
9g.123373640G=CA1877939195CRB2c.3109G= (p.Ala1037=)
c.2113G= (p.Ala705=)
n.2223G=
c.3082G= (p.Ala1028=)
c.2914G= (p.Ala972=)
9g.123373640G>TCA374868043CRB2c.3109G>T (p.Ala1037Ser)
c.2113G>T (p.Ala705Ser)
n.2223G>T
c.3082G>T (p.Ala1028Ser)
c.2914G>T (p.Ala972Ser)
 gnomAD v4
9g.123373641C>ACA374868046CRB2c.3110C>A (p.Ala1037Asp)
c.2114C>A (p.Ala705Asp)
n.2224C>A
c.3083C>A (p.Ala1028Asp)
c.2915C>A (p.Ala972Asp)
 gnomAD v4
9g.123373641C>GCA374868047CRB2c.3110C>G (p.Ala1037Gly)
c.2114C>G (p.Ala705Gly)
n.2224C>G
c.3083C>G (p.Ala1028Gly)
c.2915C>G (p.Ala972Gly)
 gnomAD v4
9g.123373641C>TCA374868048CRB2c.3110C>T (p.Ala1037Val)
c.2114C>T (p.Ala705Val)
n.2224C>T
c.3083C>T (p.Ala1028Val)
c.2915C>T (p.Ala972Val)
 gnomAD v4
9g.123373642C>ACA467206517CRB2c.3111C>A (p.Ala1037=)
c.2115C>A (p.Ala705=)
n.2225C>A
c.3084C>A (p.Ala1028=)
c.2916C>A (p.Ala972=)
 gnomAD v4
9g.123373642C=CA1877939198CRB2c.3111C= (p.Ala1037=)
c.2115C= (p.Ala705=)
n.2225C=
c.3084C= (p.Ala1028=)
c.2916C= (p.Ala972=)
9g.123373642C>GCA467206518CRB2c.3111C>G (p.Ala1037=)
c.2115C>G (p.Ala705=)
n.2225C>G
c.3084C>G (p.Ala1028=)
c.2916C>G (p.Ala972=)
9g.123373642C>TCA5232356CRB2c.3111C>T (p.Ala1037=)
c.2115C>T (p.Ala705=)
n.2225C>T
c.3084C>T (p.Ala1028=)
c.2916C>T (p.Ala972=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373643C>ACA467206520CRB2c.3112C>A (p.Arg1038=)
c.2116C>A (p.Arg706=)
n.2226C>A
c.3085C>A (p.Arg1029=)
c.2917C>A (p.Arg973=)
 gnomAD v4
9g.123373643C=CA1877939203CRB2c.3112C= (p.Arg1038=)
c.2116C= (p.Arg706=)
n.2226C=
c.3085C= (p.Arg1029=)
c.2917C= (p.Arg973=)
9g.123373643C>GCA374868049CRB2c.3112C>G (p.Arg1038Gly)
c.2116C>G (p.Arg706Gly)
n.2226C>G
c.3085C>G (p.Arg1029Gly)
c.2917C>G (p.Arg973Gly)
 gnomAD v2 gnomAD v3 gnomAD v4
9g.123373643C>TCA374868050CRB2c.3112C>T (p.Arg1038Ter)
c.2116C>T (p.Arg706Ter)
n.2226C>T
c.3085C>T (p.Arg1029Ter)
c.2917C>T (p.Arg973Ter)
 dbSNP gnomAD v4
9g.123373644G>ACA5232357CRB2c.3113G>A (p.Arg1038Gln)
c.2117G>A (p.Arg706Gln)
n.2227G>A
c.3086G>A (p.Arg1029Gln)
c.2918G>A (p.Arg973Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.123373644G>CCA374868052CRB2c.3113G>C (p.Arg1038Pro)
c.2117G>C (p.Arg706Pro)
n.2227G>C
c.3086G>C (p.Arg1029Pro)
c.2918G>C (p.Arg973Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373644G=CA1877939208CRB2c.3113G= (p.Arg1038=)
c.2117G= (p.Arg706=)
n.2227G=
c.3086G= (p.Arg1029=)
c.2918G= (p.Arg973=)
9g.123373644G>TCA374868051CRB2c.3113G>T (p.Arg1038Leu)
c.2117G>T (p.Arg706Leu)
n.2227G>T
c.3086G>T (p.Arg1029Leu)
c.2918G>T (p.Arg973Leu)
 gnomAD v4
9g.123373645A=CA1877939211CRB2c.3114A= (p.Arg1038=)
c.2118A= (p.Arg706=)
n.2228A=
c.3087A= (p.Arg1029=)
c.2919A= (p.Arg973=)
9g.123373645A>CCA199639081CRB2c.3114A>C (p.Arg1038=)
c.2118A>C (p.Arg706=)
n.2228A>C
c.3087A>C (p.Arg1029=)
c.2919A>C (p.Arg973=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373645A>GCA467206526CRB2c.3114A>G (p.Arg1038=)
c.2118A>G (p.Arg706=)
n.2228A>G
c.3087A>G (p.Arg1029=)
c.2919A>G (p.Arg973=)
 gnomAD v4
9g.123373645A>TCA467206528CRB2c.3114A>T (p.Arg1038=)
c.2118A>T (p.Arg706=)
n.2228A>T
c.3087A>T (p.Arg1029=)
c.2919A>T (p.Arg973=)
 gnomAD v4
9g.123373645_123373650dupCA2691590104CRB2c.3114_3119dup (p.Glu1039_His1040insGlnGlu)
c.2118_2123dup (p.Glu707_His708insGlnGlu)
n.2228_2233dup
c.3087_3092dup (p.Glu1030_His1031insGlnGlu)
c.2919_2924dup (p.Glu974_His975insGlnGlu)
 gnomAD v4
9g.123373646G>ACA374868053CRB2c.3115G>A (p.Glu1039Lys)
c.2119G>A (p.Glu707Lys)
n.2229G>A
c.3088G>A (p.Glu1030Lys)
c.2920G>A (p.Glu974Lys)
 dbSNP gnomAD v3 gnomAD v4
9g.123373646G>CCA199639089CRB2c.3115G>C (p.Glu1039Gln)
c.2119G>C (p.Glu707Gln)
n.2229G>C
c.3088G>C (p.Glu1030Gln)
c.2920G>C (p.Glu974Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373646G=CA1877939215CRB2c.3115G= (p.Glu1039=)
c.2119G= (p.Glu707=)
n.2229G=
c.3088G= (p.Glu1030=)
c.2920G= (p.Glu974=)
9g.123373646G>TCA374868054CRB2c.3115G>T (p.Glu1039Ter)
c.2119G>T (p.Glu707Ter)
n.2229G>T
c.3088G>T (p.Glu1030Ter)
c.2920G>T (p.Glu974Ter)
 gnomAD v4
9g.123373647A=CA1877939225CRB2c.3116A= (p.Glu1039=)
c.2120A= (p.Glu707=)
n.2230A=
c.3089A= (p.Glu1030=)
c.2921A= (p.Glu974=)
9g.123373647A>CCA374868055CRB2c.3116A>C (p.Glu1039Ala)
c.2120A>C (p.Glu707Ala)
n.2230A>C
c.3089A>C (p.Glu1030Ala)
c.2921A>C (p.Glu974Ala)
 dbSNP gnomAD v2 gnomAD v4
9g.123373647A>GCA199639095CRB2c.3116A>G (p.Glu1039Gly)
c.2120A>G (p.Glu707Gly)
n.2230A>G
c.3089A>G (p.Glu1030Gly)
c.2921A>G (p.Glu974Gly)
 ClinVar dbSNP gnomAD v4
9g.123373647A>TCA374868056CRB2c.3116A>T (p.Glu1039Val)
c.2120A>T (p.Glu707Val)
n.2230A>T
c.3089A>T (p.Glu1030Val)
c.2921A>T (p.Glu974Val)
9g.123373648G>ACA467206538CRB2c.3117G>A (p.Glu1039=)
c.2121G>A (p.Glu707=)
n.2231G>A
c.3090G>A (p.Glu1030=)
c.2922G>A (p.Glu974=)
 gnomAD v4
9g.123373648G>CCA374868057CRB2c.3117G>C (p.Glu1039Asp)
c.2121G>C (p.Glu707Asp)
n.2231G>C
c.3090G>C (p.Glu1030Asp)
c.2922G>C (p.Glu974Asp)
9g.123373648G>TCA374868058CRB2c.3117G>T (p.Glu1039Asp)
c.2121G>T (p.Glu707Asp)
n.2231G>T
c.3090G>T (p.Glu1030Asp)
c.2922G>T (p.Glu974Asp)
 gnomAD v4
9g.123373649C>ACA374868059CRB2c.3118C>A (p.His1040Asn)
c.2122C>A (p.His708Asn)
n.2232C>A
c.3091C>A (p.His1031Asn)
c.2923C>A (p.His975Asn)
 gnomAD v4
9g.123373649C>GCA374868060CRB2c.3118C>G (p.His1040Asp)
c.2122C>G (p.His708Asp)
n.2232C>G
c.3091C>G (p.His1031Asp)
c.2923C>G (p.His975Asp)
9g.123373649C>TCA374868061CRB2c.3118C>T (p.His1040Tyr)
c.2122C>T (p.His708Tyr)
n.2232C>T
c.3091C>T (p.His1031Tyr)
c.2923C>T (p.His975Tyr)
 gnomAD v4
9g.123373650A=CA1877939231CRB2c.3119A= (p.His1040=)
c.2123A= (p.His708=)
n.2233A=
c.3092A= (p.His1031=)
c.2924A= (p.His975=)
9g.123373650A>CCA5232358CRB2c.3119A>C (p.His1040Pro)
c.2123A>C (p.His708Pro)
n.2233A>C
c.3092A>C (p.His1031Pro)
c.2924A>C (p.His975Pro)
 dbSNP ExAC
9g.123373650A>GCA374868063CRB2c.3119A>G (p.His1040Arg)
c.2123A>G (p.His708Arg)
n.2233A>G
c.3092A>G (p.His1031Arg)
c.2924A>G (p.His975Arg)
 gnomAD v4
9g.123373650A>TCA374868062CRB2c.3119A>T (p.His1040Leu)
c.2123A>T (p.His708Leu)
n.2233A>T
c.3092A>T (p.His1031Leu)
c.2924A>T (p.His975Leu)
9g.123373651C>ACA5232359CRB2c.3120C>A (p.His1040Gln)
c.2124C>A (p.His708Gln)
n.2234C>A
c.3093C>A (p.His1031Gln)
c.2925C>A (p.His975Gln)
 dbSNP ExAC gnomAD v4
9g.123373651C=CA1877939237CRB2c.3120C= (p.His1040=)
c.2124C= (p.His708=)
n.2234C=
c.3093C= (p.His1031=)
c.2925C= (p.His975=)
9g.123373651C>GCA374868064CRB2c.3120C>G (p.His1040Gln)
c.2124C>G (p.His708Gln)
n.2234C>G
c.3093C>G (p.His1031Gln)
c.2925C>G (p.His975Gln)
9g.123373651C>TCA467206547CRB2c.3120C>T (p.His1040=)
c.2124C>T (p.His708=)
n.2234C>T
c.3093C>T (p.His1031=)
c.2925C>T (p.His975=)
 dbSNP gnomAD v4
9g.123373652T>ACA374868065CRB2c.3121T>A (p.Phe1041Ile)
c.2125T>A (p.Phe709Ile)
n.2235T>A
c.3094T>A (p.Phe1032Ile)
c.2926T>A (p.Phe976Ile)
 gnomAD v4
9g.123373652T>CCA374868066CRB2c.3121T>C (p.Phe1041Leu)
c.2125T>C (p.Phe709Leu)
n.2235T>C
c.3094T>C (p.Phe1032Leu)
c.2926T>C (p.Phe976Leu)
 dbSNP gnomAD v4
9g.123373652T>GCA374868067CRB2c.3121T>G (p.Phe1041Val)
c.2125T>G (p.Phe709Val)
n.2235T>G
c.3094T>G (p.Phe1032Val)
c.2926T>G (p.Phe976Val)
9g.123373652T=CA1877939242CRB2c.3121T= (p.Phe1041=)
c.2125T= (p.Phe709=)
n.2235T=
c.3094T= (p.Phe1032=)
c.2926T= (p.Phe976=)
9g.123373653T>ACA374868068CRB2c.3122T>A (p.Phe1041Tyr)
c.2126T>A (p.Phe709Tyr)
n.2236T>A
c.3095T>A (p.Phe1032Tyr)
c.2927T>A (p.Phe976Tyr)
9g.123373653T>CCA374868069CRB2c.3122T>C (p.Phe1041Ser)
c.2126T>C (p.Phe709Ser)
n.2236T>C
c.3095T>C (p.Phe1032Ser)
c.2927T>C (p.Phe976Ser)
9g.123373653T>GCA374868070CRB2c.3122T>G (p.Phe1041Cys)
c.2126T>G (p.Phe709Cys)
n.2236T>G
c.3095T>G (p.Phe1032Cys)
c.2927T>G (p.Phe976Cys)
9g.123373654C>ACA374868071CRB2c.3123C>A (p.Phe1041Leu)
c.2127C>A (p.Phe709Leu)
n.2237C>A
c.3096C>A (p.Phe1032Leu)
c.2928C>A (p.Phe976Leu)
 gnomAD v4
9g.123373654C=CA1877939247CRB2c.3123C= (p.Phe1041=)
c.2127C= (p.Phe709=)
n.2237C=
c.3096C= (p.Phe1032=)
c.2928C= (p.Phe976=)
9g.123373654C>GCA5232360CRB2c.3123C>G (p.Phe1041Leu)
c.2127C>G (p.Phe709Leu)
n.2237C>G
c.3096C>G (p.Phe1032Leu)
c.2928C>G (p.Phe976Leu)
 dbSNP ExAC
9g.123373654C>TCA467206557CRB2c.3123C>T (p.Phe1041=)
c.2127C>T (p.Phe709=)
n.2237C>T
c.3096C>T (p.Phe1032=)
c.2928C>T (p.Phe976=)
9g.123373655G>ACA5232361CRB2c.3124G>A (p.Ala1042Thr)
c.2128G>A (p.Ala710Thr)
n.2238G>A
c.3097G>A (p.Ala1033Thr)
c.2929G>A (p.Ala977Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373655G>CCA374868072CRB2c.3124G>C (p.Ala1042Pro)
c.2128G>C (p.Ala710Pro)
n.2238G>C
c.3097G>C (p.Ala1033Pro)
c.2929G>C (p.Ala977Pro)
9g.123373655G=CA1877939255CRB2c.3124G= (p.Ala1042=)
c.2128G= (p.Ala710=)
n.2238G=
c.3097G= (p.Ala1033=)
c.2929G= (p.Ala977=)
9g.123373655G>TCA374868073CRB2c.3124G>T (p.Ala1042Ser)
c.2128G>T (p.Ala710Ser)
n.2238G>T
c.3097G>T (p.Ala1033Ser)
c.2929G>T (p.Ala977Ser)
 gnomAD v4
9g.123373655_123373656insACA374868076CRB2c.3124_3125insA (p.Ala1042AspfsTer?)
c.2128_2129insA (p.Ala710AspfsTer?)
n.2238_2239insA
c.3097_3098insA (p.Ala1033AspfsTer?)
c.2929_2930insA (p.Ala977AspfsTer?)
 dbSNP
9g.123373656C>ACA374868074CRB2c.3125C>A (p.Ala1042Glu)
c.2129C>A (p.Ala710Glu)
n.2239C>A
c.3098C>A (p.Ala1033Glu)
c.2930C>A (p.Ala977Glu)
 gnomAD v4
9g.123373656C=CA1877939263CRB2c.3125C= (p.Ala1042=)
c.2129C= (p.Ala710=)
n.2239C=
c.3098C= (p.Ala1033=)
c.2930C= (p.Ala977=)
9g.123373656C>GCA374868075CRB2c.3125C>G (p.Ala1042Gly)
c.2129C>G (p.Ala710Gly)
n.2239C>G
c.3098C>G (p.Ala1033Gly)
c.2930C>G (p.Ala977Gly)
9g.123373656C>TCA199639113CRB2c.3125C>T (p.Ala1042Val)
c.2129C>T (p.Ala710Val)
n.2239C>T
c.3098C>T (p.Ala1033Val)
c.2930C>T (p.Ala977Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373657G>ACA467206567CRB2c.3126G>A (p.Ala1042=)
c.2130G>A (p.Ala710=)
n.2240G>A
c.3099G>A (p.Ala1033=)
c.2931G>A (p.Ala977=)
 gnomAD v4
9g.123373657G>CCA5232362CRB2c.3126G>C (p.Ala1042=)
c.2130G>C (p.Ala710=)
n.2240G>C
c.3099G>C (p.Ala1033=)
c.2931G>C (p.Ala977=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373657G=CA1877939266CRB2c.3126G= (p.Ala1042=)
c.2130G= (p.Ala710=)
n.2240G=
c.3099G= (p.Ala1033=)
c.2931G= (p.Ala977=)
9g.123373657G>TCA467206569CRB2c.3126G>T (p.Ala1042=)
c.2130G>T (p.Ala710=)
n.2240G>T
c.3099G>T (p.Ala1033=)
c.2931G>T (p.Ala977=)
 dbSNP gnomAD v4
9g.123373658T>ACA374868077CRB2c.3127T>A (p.Ser1043Thr)
c.2131T>A (p.Ser711Thr)
n.2241T>A
c.3100T>A (p.Ser1034Thr)
c.2932T>A (p.Ser978Thr)
9g.123373658T>CCA374868078CRB2c.3127T>C (p.Ser1043Pro)
c.2131T>C (p.Ser711Pro)
n.2241T>C
c.3100T>C (p.Ser1034Pro)
c.2932T>C (p.Ser978Pro)
 gnomAD v4
9g.123373658T>GCA374868079CRB2c.3127T>G (p.Ser1043Ala)
c.2131T>G (p.Ser711Ala)
n.2241T>G
c.3100T>G (p.Ser1034Ala)
c.2932T>G (p.Ser978Ala)
9g.123373659C>ACA374868080CRB2c.3128C>A (p.Ser1043Tyr)
c.2132C>A (p.Ser711Tyr)
n.2242C>A
c.3101C>A (p.Ser1034Tyr)
c.2933C>A (p.Ser978Tyr)
 gnomAD v4
9g.123373659C=CA1877939278CRB2c.3128C= (p.Ser1043=)
c.2132C= (p.Ser711=)
n.2242C=
c.3101C= (p.Ser1034=)
c.2933C= (p.Ser978=)
9g.123373659C>GCA374868081CRB2c.3128C>G (p.Ser1043Cys)
c.2132C>G (p.Ser711Cys)
n.2242C>G
c.3101C>G (p.Ser1034Cys)
c.2933C>G (p.Ser978Cys)
9g.123373659C>TCA5232363CRB2c.3128C>T (p.Ser1043Phe)
c.2132C>T (p.Ser711Phe)
n.2242C>T
c.3101C>T (p.Ser1034Phe)
c.2933C>T (p.Ser978Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373660T>ACA467206575CRB2c.3129T>A (p.Ser1043=)
c.2133T>A (p.Ser711=)
n.2243T>A
c.3102T>A (p.Ser1034=)
c.2934T>A (p.Ser978=)
 gnomAD v4
9g.123373660T>CCA467206577CRB2c.3129T>C (p.Ser1043=)
c.2133T>C (p.Ser711=)
n.2243T>C
c.3102T>C (p.Ser1034=)
c.2934T>C (p.Ser978=)
 gnomAD v4
9g.123373660T>GCA467206579CRB2c.3129T>G (p.Ser1043=)
c.2133T>G (p.Ser711=)
n.2243T>G
c.3102T>G (p.Ser1034=)
c.2934T>G (p.Ser978=)
 gnomAD v4
9g.123373661T>ACA374868082CRB2c.3130T>A (p.Trp1044Arg)
c.2134T>A (p.Trp712Arg)
n.2244T>A
c.3103T>A (p.Trp1035Arg)
c.2935T>A (p.Trp979Arg)
9g.123373661T>CCA199639122CRB2c.3130T>C (p.Trp1044Arg)
c.2134T>C (p.Trp712Arg)
n.2244T>C
c.3103T>C (p.Trp1035Arg)
c.2935T>C (p.Trp979Arg)
 ClinVar dbSNP gnomAD v4
9g.123373661T>GCA374868083CRB2c.3130T>G (p.Trp1044Gly)
c.2134T>G (p.Trp712Gly)
n.2244T>G
c.3103T>G (p.Trp1035Gly)
c.2935T>G (p.Trp979Gly)
9g.123373661T=CA1877939288CRB2c.3130T= (p.Trp1044=)
c.2134T= (p.Trp712=)
n.2244T=
c.3103T= (p.Trp1035=)
c.2935T= (p.Trp979=)
9g.123373661_123373662delinsTGCA1877939290CRB2c.3130_3131delinsTG (p.Trp1044=)
c.2134_2135delinsTG (p.Trp712=)
n.2244_2245delinsTG
c.3103_3104delinsTG (p.Trp1035=)
c.2935_2936delinsTG (p.Trp979=)
9g.123373662G>ACA374868085CRB2c.3131G>A (p.Trp1044Ter)
c.2135G>A (p.Trp712Ter)
n.2245G>A
c.3104G>A (p.Trp1035Ter)
c.2936G>A (p.Trp979Ter)
9g.123373662G>CCA374868086CRB2c.3131G>C (p.Trp1044Ser)
c.2135G>C (p.Trp712Ser)
n.2245G>C
c.3104G>C (p.Trp1035Ser)
c.2936G>C (p.Trp979Ser)
9g.123373662G>TCA374868084CRB2c.3131G>T (p.Trp1044Leu)
c.2135G>T (p.Trp712Leu)
n.2245G>T
c.3104G>T (p.Trp1035Leu)
c.2936G>T (p.Trp979Leu)
 gnomAD v4
9g.123373663delCA1877939292CRB2c.3132del (p.Trp1044CysfsTer?)
c.2136del (p.Trp712CysfsTer?)
n.2246del
c.3105del (p.Trp1035CysfsTer?)
c.2937del (p.Trp979CysfsTer?)
 dbSNP
9g.123373666_123373678dupCA2785875776CRB2c.3135_3147dup (p.Pro1050TrpfsTer28)
c.2139_2151dup (p.Pro718TrpfsTer28)
n.2249_2261dup
c.3108_3120dup (p.Pro1041TrpfsTer28)
c.2940_2952dup (p.Pro985TrpfsTer28)
9g.123373663G>ACA374868087CRB2c.3132G>A (p.Trp1044Ter)
c.2136G>A (p.Trp712Ter)
n.2246G>A
c.3105G>A (p.Trp1035Ter)
c.2937G>A (p.Trp979Ter)
 dbSNP gnomAD v4
9g.123373663G>CCA374868088CRB2c.3132G>C (p.Trp1044Cys)
c.2136G>C (p.Trp712Cys)
n.2246G>C
c.3105G>C (p.Trp1035Cys)
c.2937G>C (p.Trp979Cys)
9g.123373663G=CA1877939296CRB2c.3132G= (p.Trp1044=)
c.2136G= (p.Trp712=)
n.2246G=
c.3105G= (p.Trp1035=)
c.2937G= (p.Trp979=)
9g.123373663G>TCA374868089CRB2c.3132G>T (p.Trp1044Cys)
c.2136G>T (p.Trp712Cys)
n.2246G>T
c.3105G>T (p.Trp1035Cys)
c.2937G>T (p.Trp979Cys)
 gnomAD v4
9g.123373664C>ACA374868090CRB2c.3133C>A (p.Pro1045Thr)
c.2137C>A (p.Pro713Thr)
n.2247C>A
c.3106C>A (p.Pro1036Thr)
c.2938C>A (p.Pro980Thr)
 gnomAD v4
9g.123373664C>GCA374868091CRB2c.3133C>G (p.Pro1045Ala)
c.2137C>G (p.Pro713Ala)
n.2247C>G
c.3106C>G (p.Pro1036Ala)
c.2938C>G (p.Pro980Ala)
9g.123373664C>TCA374868092CRB2c.3133C>T (p.Pro1045Ser)
c.2137C>T (p.Pro713Ser)
n.2247C>T
c.3106C>T (p.Pro1036Ser)
c.2938C>T (p.Pro980Ser)
 gnomAD v4
9g.123373665delCA2691590119CRB2c.3134del (p.Pro1045LeufsTer?)
c.2138del (p.Pro713LeufsTer?)
n.2248del
c.3107del (p.Pro1036LeufsTer?)
c.2939del (p.Pro980LeufsTer?)
 gnomAD v4
9g.123373665C>ACA374868093CRB2c.3134C>A (p.Pro1045His)
c.2138C>A (p.Pro713His)
n.2248C>A
c.3107C>A (p.Pro1036His)
c.2939C>A (p.Pro980His)
 gnomAD v4
9g.123373665C=CA1877939300CRB2c.3134C= (p.Pro1045=)
c.2138C= (p.Pro713=)
n.2248C=
c.3107C= (p.Pro1036=)
c.2939C= (p.Pro980=)
9g.123373665C>GCA374868094CRB2c.3134C>G (p.Pro1045Arg)
c.2138C>G (p.Pro713Arg)
n.2248C>G
c.3107C>G (p.Pro1036Arg)
c.2939C>G (p.Pro980Arg)
 dbSNP
9g.123373665C>TCA374868095CRB2c.3134C>T (p.Pro1045Leu)
c.2138C>T (p.Pro713Leu)
n.2248C>T
c.3107C>T (p.Pro1036Leu)
c.2939C>T (p.Pro980Leu)
 dbSNP gnomAD v4
9g.123373666T>ACA467206587CRB2c.3135T>A (p.Pro1045=)
c.2139T>A (p.Pro713=)
n.2249T>A
c.3108T>A (p.Pro1036=)
c.2940T>A (p.Pro980=)
9g.123373666T>CCA467206585CRB2c.3135T>C (p.Pro1045=)
c.2139T>C (p.Pro713=)
n.2249T>C
c.3108T>C (p.Pro1036=)
c.2940T>C (p.Pro980=)
 gnomAD v4
9g.123373666T>GCA467206586CRB2c.3135T>G (p.Pro1045=)
c.2139T>G (p.Pro713=)
n.2249T>G
c.3108T>G (p.Pro1036=)
c.2940T>G (p.Pro980=)
 dbSNP gnomAD v4
9g.123373666T=CA1877939306CRB2c.3135T= (p.Pro1045=)
c.2139T= (p.Pro713=)
n.2249T=
c.3108T= (p.Pro1036=)
c.2940T= (p.Pro980=)
9g.123373667G>ACA5232364CRB2c.3136G>A (p.Gly1046Arg)
c.2140G>A (p.Gly714Arg)
n.2250G>A
c.3109G>A (p.Gly1037Arg)
c.2941G>A (p.Gly981Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.123373667G>CCA374868096CRB2c.3136G>C (p.Gly1046Arg)
c.2140G>C (p.Gly714Arg)
n.2250G>C
c.3109G>C (p.Gly1037Arg)
c.2941G>C (p.Gly981Arg)
 dbSNP gnomAD v4
9g.123373667G=CA1877939309CRB2c.3136G= (p.Gly1046=)
c.2140G= (p.Gly714=)
n.2250G=
c.3109G= (p.Gly1037=)
c.2941G= (p.Gly981=)
9g.123373667G>TCA374868097CRB2c.3136G>T (p.Gly1046Trp)
c.2140G>T (p.Gly714Trp)
n.2250G>T
c.3109G>T (p.Gly1037Trp)
c.2941G>T (p.Gly981Trp)
 gnomAD v4
9g.123373668G>ACA374868099CRB2c.3137G>A (p.Gly1046Glu)
c.2141G>A (p.Gly714Glu)
n.2251G>A
c.3110G>A (p.Gly1037Glu)
c.2942G>A (p.Gly981Glu)
 dbSNP gnomAD v4
9g.123373668G>CCA374868100CRB2c.3137G>C (p.Gly1046Ala)
c.2141G>C (p.Gly714Ala)
n.2251G>C
c.3110G>C (p.Gly1037Ala)
c.2942G>C (p.Gly981Ala)
9g.123373668G=CA1877939312CRB2c.3137G= (p.Gly1046=)
c.2141G= (p.Gly714=)
n.2251G=
c.3110G= (p.Gly1037=)
c.2942G= (p.Gly981=)
9g.123373668G>TCA374868098CRB2c.3137G>T (p.Gly1046Val)
c.2141G>T (p.Gly714Val)
n.2251G>T
c.3110G>T (p.Gly1037Val)
c.2942G>T (p.Gly981Val)
 gnomAD v4
9g.123373669G>ACA467206595CRB2c.3138G>A (p.Gly1046=)
c.2142G>A (p.Gly714=)
n.2252G>A
c.3111G>A (p.Gly1037=)
c.2943G>A (p.Gly981=)
 dbSNP gnomAD v3 gnomAD v4
9g.123373669G>CCA467206596CRB2c.3138G>C (p.Gly1046=)
c.2142G>C (p.Gly714=)
n.2252G>C
c.3111G>C (p.Gly1037=)
c.2943G>C (p.Gly981=)
 gnomAD v4
9g.123373669G=CA1877939315CRB2c.3138G= (p.Gly1046=)
c.2142G= (p.Gly714=)
n.2252G=
c.3111G= (p.Gly1037=)
c.2943G= (p.Gly981=)
9g.123373669G>TCA467206597CRB2c.3138G>T (p.Gly1046=)
c.2142G>T (p.Gly714=)
n.2252G>T
c.3111G>T (p.Gly1037=)
c.2943G>T (p.Gly981=)
 gnomAD v4
9g.123373670A>CCA374868101CRB2c.3139A>C (p.Thr1047Pro)
c.2143A>C (p.Thr715Pro)
n.2253A>C
c.3112A>C (p.Thr1038Pro)
c.2944A>C (p.Thr982Pro)
9g.123373670A>GCA374868102CRB2c.3139A>G (p.Thr1047Ala)
c.2143A>G (p.Thr715Ala)
n.2253A>G
c.3112A>G (p.Thr1038Ala)
c.2944A>G (p.Thr982Ala)
 gnomAD v4
9g.123373670A>TCA374868103CRB2c.3139A>T (p.Thr1047Ser)
c.2143A>T (p.Thr715Ser)
n.2253A>T
c.3112A>T (p.Thr1038Ser)
c.2944A>T (p.Thr982Ser)
9g.123373671C>ACA374868104CRB2c.3140C>A (p.Thr1047Lys)
c.2144C>A (p.Thr715Lys)
n.2254C>A
c.3113C>A (p.Thr1038Lys)
c.2945C>A (p.Thr982Lys)
 gnomAD v4
9g.123373671C=CA1877939318CRB2c.3140C= (p.Thr1047=)
c.2144C= (p.Thr715=)
n.2254C=
c.3113C= (p.Thr1038=)
c.2945C= (p.Thr982=)
9g.123373671C>GCA374868105CRB2c.3140C>G (p.Thr1047Arg)
c.2144C>G (p.Thr715Arg)
n.2254C>G
c.3113C>G (p.Thr1038Arg)
c.2945C>G (p.Thr982Arg)
9g.123373671C>TCA374868106CRB2c.3140C>T (p.Thr1047Met)
c.2144C>T (p.Thr715Met)
n.2254C>T
c.3113C>T (p.Thr1038Met)
c.2945C>T (p.Thr982Met)
 dbSNP gnomAD v3 gnomAD v4
9g.123373672G>ACA467206604CRB2c.3141G>A (p.Thr1047=)
c.2145G>A (p.Thr715=)
n.2255G>A
c.3114G>A (p.Thr1038=)
c.2946G>A (p.Thr982=)
 dbSNP gnomAD v4
9g.123373672G>CCA467206606CRB2c.3141G>C (p.Thr1047=)
c.2145G>C (p.Thr715=)
n.2255G>C
c.3114G>C (p.Thr1038=)
c.2946G>C (p.Thr982=)
9g.123373672G=CA1877939325CRB2c.3141G= (p.Thr1047=)
c.2145G= (p.Thr715=)
n.2255G=
c.3114G= (p.Thr1038=)
c.2946G= (p.Thr982=)
9g.123373672G>TCA467206605CRB2c.3141G>T (p.Thr1047=)
c.2145G>T (p.Thr715=)
n.2255G>T
c.3114G>T (p.Thr1038=)
c.2946G>T (p.Thr982=)
 dbSNP gnomAD v2 gnomAD v4
9g.123373672_123373678delinsGCCGGCCCA1877939323CRB2c.3141_3147delinsGCCGGCC (p.Thr1047=)
c.2145_2151delinsGCCGGCC (p.Thr715=)
n.2255_2261delinsGCCGGCC
c.3114_3120delinsGCCGGCC (p.Thr1038=)
c.2946_2952delinsGCCGGCC (p.Thr982=)
9g.123373673C>ACA374868107CRB2c.3142C>A (p.Pro1048Thr)
c.2146C>A (p.Pro716Thr)
n.2256C>A
c.3115C>A (p.Pro1039Thr)
c.2947C>A (p.Pro983Thr)
 gnomAD v4
9g.123373673C>GCA374868109CRB2c.3142C>G (p.Pro1048Ala)
c.2146C>G (p.Pro716Ala)
n.2256C>G
c.3115C>G (p.Pro1039Ala)
c.2947C>G (p.Pro983Ala)
9g.123373673C>TCA374868108CRB2c.3142C>T (p.Pro1048Ser)
c.2146C>T (p.Pro716Ser)
n.2256C>T
c.3115C>T (p.Pro1039Ser)
c.2947C>T (p.Pro983Ser)
 gnomAD v4
9g.123373676_123373681delCA590936294CRB2c.3145_3150del (p.Ala1049_Pro1050del)
c.2149_2154del (p.Ala717_Pro718del)
n.2259_2264del
c.3118_3123del (p.Ala1040_Pro1041del)
c.2950_2955del (p.Ala984_Pro985del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373674C>ACA374868110CRB2c.3143C>A (p.Pro1048Gln)
c.2147C>A (p.Pro716Gln)
n.2257C>A
c.3116C>A (p.Pro1039Gln)
c.2948C>A (p.Pro983Gln)
 gnomAD v4
9g.123373674C=CA1877939339CRB2c.3143C= (p.Pro1048=)
c.2147C= (p.Pro716=)
n.2257C=
c.3116C= (p.Pro1039=)
c.2948C= (p.Pro983=)
9g.123373674C>GCA374868111CRB2c.3143C>G (p.Pro1048Arg)
c.2147C>G (p.Pro716Arg)
n.2257C>G
c.3116C>G (p.Pro1039Arg)
c.2948C>G (p.Pro983Arg)
 gnomAD v4
9g.123373674C>TCA374868112CRB2c.3143C>T (p.Pro1048Leu)
c.2147C>T (p.Pro716Leu)
n.2257C>T
c.3116C>T (p.Pro1039Leu)
c.2948C>T (p.Pro983Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373675G>ACA5232365CRB2c.3144G>A (p.Pro1048=)
c.2148G>A (p.Pro716=)
n.2258G>A
c.3117G>A (p.Pro1039=)
c.2949G>A (p.Pro983=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373675G>CCA467206616CRB2c.3144G>C (p.Pro1048=)
c.2148G>C (p.Pro716=)
n.2258G>C
c.3117G>C (p.Pro1039=)
c.2949G>C (p.Pro983=)
9g.123373675G=CA1877939347CRB2c.3144G= (p.Pro1048=)
c.2148G= (p.Pro716=)
n.2258G=
c.3117G= (p.Pro1039=)
c.2949G= (p.Pro983=)
9g.123373675G>TCA467206617CRB2c.3144G>T (p.Pro1048=)
c.2148G>T (p.Pro716=)
n.2258G>T
c.3117G>T (p.Pro1039=)
c.2949G>T (p.Pro983=)
 dbSNP gnomAD v2 gnomAD v4
9g.123373675_123373676delCA2691590125CRB2c.3144_3145del (p.Ala1049ProfsTer24)
c.2148_2149del (p.Ala717ProfsTer24)
n.2258_2259del
c.3117_3118del (p.Ala1040ProfsTer24)
c.2949_2950del (p.Ala984ProfsTer24)
 gnomAD v4
9g.123373676G>ACA199639132CRB2c.3145G>A (p.Ala1049Thr)
c.2149G>A (p.Ala717Thr)
n.2259G>A
c.3118G>A (p.Ala1040Thr)
c.2950G>A (p.Ala984Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373676G>CCA374868114CRB2c.3145G>C (p.Ala1049Pro)
c.2149G>C (p.Ala717Pro)
n.2259G>C
c.3118G>C (p.Ala1040Pro)
c.2950G>C (p.Ala984Pro)
9g.123373676G=CA1877939368CRB2c.3145G= (p.Ala1049=)
c.2149G= (p.Ala717=)
n.2259G=
c.3118G= (p.Ala1040=)
c.2950G= (p.Ala984=)
9g.123373676G>TCA374868113CRB2c.3145G>T (p.Ala1049Ser)
c.2149G>T (p.Ala717Ser)
n.2259G>T
c.3118G>T (p.Ala1040Ser)
c.2950G>T (p.Ala984Ser)
 gnomAD v4
9g.123373677C>ACA374868115CRB2c.3146C>A (p.Ala1049Asp)
c.2150C>A (p.Ala717Asp)
n.2260C>A
c.3119C>A (p.Ala1040Asp)
c.2951C>A (p.Ala984Asp)
 gnomAD v4
9g.123373677C=CA1877939372CRB2c.3146C= (p.Ala1049=)
c.2150C= (p.Ala717=)
n.2260C=
c.3119C= (p.Ala1040=)
c.2951C= (p.Ala984=)
9g.123373677C>GCA374868116CRB2c.3146C>G (p.Ala1049Gly)
c.2150C>G (p.Ala717Gly)
n.2260C>G
c.3119C>G (p.Ala1040Gly)
c.2951C>G (p.Ala984Gly)
9g.123373677C>TCA5232366CRB2c.3146C>T (p.Ala1049Val)
c.2150C>T (p.Ala717Val)
n.2260C>T
c.3119C>T (p.Ala1040Val)
c.2951C>T (p.Ala984Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373680delCA2691590130CRB2c.3149del (p.Pro1050ArgfsTer?)
c.2153del (p.Pro718ArgfsTer?)
n.2263del
c.3122del (p.Pro1041ArgfsTer?)
c.2954del (p.Pro985ArgfsTer?)
 gnomAD v4
9g.123373678C>ACA467206620CRB2c.3147C>A (p.Ala1049=)
c.2151C>A (p.Ala717=)
n.2261C>A
c.3120C>A (p.Ala1040=)
c.2952C>A (p.Ala984=)
 gnomAD v4
9g.123373678C=CA1877939377CRB2c.3147C= (p.Ala1049=)
c.2151C= (p.Ala717=)
n.2261C=
c.3120C= (p.Ala1040=)
c.2952C= (p.Ala984=)
9g.123373678C>GCA467206622CRB2c.3147C>G (p.Ala1049=)
c.2151C>G (p.Ala717=)
n.2261C>G
c.3120C>G (p.Ala1040=)
c.2952C>G (p.Ala984=)
 gnomAD v4
9g.123373678C>TCA467206621CRB2c.3147C>T (p.Ala1049=)
c.2151C>T (p.Ala717=)
n.2261C>T
c.3120C>T (p.Ala1040=)
c.2952C>T (p.Ala984=)
 dbSNP gnomAD v4
9g.123373679C>ACA374868117CRB2c.3148C>A (p.Pro1050Thr)
c.2152C>A (p.Pro718Thr)
n.2262C>A
c.3121C>A (p.Pro1041Thr)
c.2953C>A (p.Pro985Thr)
9g.123373679C>GCA374868118CRB2c.3148C>G (p.Pro1050Ala)
c.2152C>G (p.Pro718Ala)
n.2262C>G
c.3121C>G (p.Pro1041Ala)
c.2953C>G (p.Pro985Ala)
9g.123373679C>TCA374868119CRB2c.3148C>T (p.Pro1050Ser)
c.2152C>T (p.Pro718Ser)
n.2262C>T
c.3121C>T (p.Pro1041Ser)
c.2953C>T (p.Pro985Ser)
 gnomAD v4
9g.123373680C>ACA374868120CRB2c.3149C>A (p.Pro1050Gln)
c.2153C>A (p.Pro718Gln)
n.2263C>A
c.3122C>A (p.Pro1041Gln)
c.2954C>A (p.Pro985Gln)
 gnomAD v4
9g.123373680C=CA1877939380CRB2c.3149C= (p.Pro1050=)
c.2153C= (p.Pro718=)
n.2263C=
c.3122C= (p.Pro1041=)
c.2954C= (p.Pro985=)
9g.123373680C>GCA374868121CRB2c.3149C>G (p.Pro1050Arg)
c.2153C>G (p.Pro718Arg)
n.2263C>G
c.3122C>G (p.Pro1041Arg)
c.2954C>G (p.Pro985Arg)
 gnomAD v4
9g.123373680C>TCA5232367CRB2c.3149C>T (p.Pro1050Leu)
c.2153C>T (p.Pro718Leu)
n.2263C>T
c.3122C>T (p.Pro1041Leu)
c.2954C>T (p.Pro985Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373681delCA2691590139CRB2c.3150del (p.Ile1051SerfsTer?)
c.2154del (p.Ile719SerfsTer?)
n.2264del
c.3123del (p.Ile1042SerfsTer?)
c.2955del (p.Ile986SerfsTer?)
 gnomAD v4
9g.123373681G>ACA467206632CRB2c.3150G>A (p.Pro1050=)
c.2154G>A (p.Pro718=)
n.2264G>A
c.3123G>A (p.Pro1041=)
c.2955G>A (p.Pro985=)
 gnomAD v4
9g.123373681G>CCA467206634CRB2c.3150G>C (p.Pro1050=)
c.2154G>C (p.Pro718=)
n.2264G>C
c.3123G>C (p.Pro1041=)
c.2955G>C (p.Pro985=)
9g.123373681G>TCA467206635CRB2c.3150G>T (p.Pro1050=)
c.2154G>T (p.Pro718=)
n.2264G>T
c.3123G>T (p.Pro1041=)
c.2955G>T (p.Pro985=)
9g.123373682A>CCA374868124CRB2c.3151A>C (p.Ile1051Leu)
c.2155A>C (p.Ile719Leu)
n.2265A>C
c.3124A>C (p.Ile1042Leu)
c.2956A>C (p.Ile986Leu)
 dbSNP
9g.123373682A>GCA374868122CRB2c.3151A>G (p.Ile1051Val)
c.2155A>G (p.Ile719Val)
n.2265A>G
c.3124A>G (p.Ile1042Val)
c.2956A>G (p.Ile986Val)
 gnomAD v4
9g.123373682A>TCA374868123CRB2c.3151A>T (p.Ile1051Phe)
c.2155A>T (p.Ile719Phe)
n.2265A>T
c.3124A>T (p.Ile1042Phe)
c.2956A>T (p.Ile986Phe)
9g.123373683T>ACA374868125CRB2c.3152T>A (p.Ile1051Asn)
c.2156T>A (p.Ile719Asn)
n.2266T>A
c.3125T>A (p.Ile1042Asn)
c.2957T>A (p.Ile986Asn)
9g.123373683T>CCA374868126CRB2c.3152T>C (p.Ile1051Thr)
c.2156T>C (p.Ile719Thr)
n.2266T>C
c.3125T>C (p.Ile1042Thr)
c.2957T>C (p.Ile986Thr)
 gnomAD v4
9g.123373683T>GCA374868127CRB2c.3152T>G (p.Ile1051Ser)
c.2156T>G (p.Ile719Ser)
n.2266T>G
c.3125T>G (p.Ile1042Ser)
c.2957T>G (p.Ile986Ser)
 dbSNP
9g.123373683T=CA1877939383CRB2c.3152T= (p.Ile1051=)
c.2156T= (p.Ile719=)
n.2266T=
c.3125T= (p.Ile1042=)
c.2957T= (p.Ile986=)
9g.123373684C>ACA467206640CRB2c.3153C>A (p.Ile1051=)
c.2157C>A (p.Ile719=)
n.2267C>A
c.3126C>A (p.Ile1042=)
c.2958C>A (p.Ile986=)
 gnomAD v4
9g.123373684C=CA1877939390CRB2c.3153C= (p.Ile1051=)
c.2157C= (p.Ile719=)
n.2267C=
c.3126C= (p.Ile1042=)
c.2958C= (p.Ile986=)
9g.123373684C>GCA374868128CRB2c.3153C>G (p.Ile1051Met)
c.2157C>G (p.Ile719Met)
n.2267C>G
c.3126C>G (p.Ile1042Met)
c.2958C>G (p.Ile986Met)
 gnomAD v4
9g.123373684C>TCA5232368CRB2c.3153C>T (p.Ile1051=)
c.2157C>T (p.Ile719=)
n.2267C>T
c.3126C>T (p.Ile1042=)
c.2958C>T (p.Ile986=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.123373685C>ACA374868130CRB2c.3154C>A (p.Leu1052Ile)
c.2158C>A (p.Leu720Ile)
n.2268C>A
c.3127C>A (p.Leu1043Ile)
c.2959C>A (p.Leu987Ile)
 gnomAD v4
9g.123373685C=CA1877939395CRB2c.3154C= (p.Leu1052=)
c.2158C= (p.Leu720=)
n.2268C=
c.3127C= (p.Leu1043=)
c.2959C= (p.Leu987=)
9g.123373685C>GCA374868129CRB2c.3154C>G (p.Leu1052Val)
c.2158C>G (p.Leu720Val)
n.2268C>G
c.3127C>G (p.Leu1043Val)
c.2959C>G (p.Leu987Val)
 ClinVar dbSNP gnomAD v4
9g.123373685C>TCA5232369CRB2c.3154C>T (p.Leu1052Phe)
c.2158C>T (p.Leu720Phe)
n.2268C>T
c.3127C>T (p.Leu1043Phe)
c.2959C>T (p.Leu987Phe)
 dbSNP ExAC gnomAD v4
9g.123373686T>ACA374868131CRB2c.3155T>A (p.Leu1052His)
c.2159T>A (p.Leu720His)
n.2269T>A
c.3128T>A (p.Leu1043His)
c.2960T>A (p.Leu987His)
 gnomAD v4
9g.123373686T>CCA374868132CRB2c.3155T>C (p.Leu1052Pro)
c.2159T>C (p.Leu720Pro)
n.2269T>C
c.3128T>C (p.Leu1043Pro)
c.2960T>C (p.Leu987Pro)
 gnomAD v4
9g.123373686T>GCA374868133CRB2c.3155T>G (p.Leu1052Arg)
c.2159T>G (p.Leu720Arg)
n.2269T>G
c.3128T>G (p.Leu1043Arg)
c.2960T>G (p.Leu987Arg)
9g.123373687C>ACA467206649CRB2c.3156C>A (p.Leu1052=)
c.2160C>A (p.Leu720=)
n.2270C>A
c.3129C>A (p.Leu1043=)
c.2961C>A (p.Leu987=)
 gnomAD v4
9g.123373687C>GCA467206647CRB2c.3156C>G (p.Leu1052=)
c.2160C>G (p.Leu720=)
n.2270C>G
c.3129C>G (p.Leu1043=)
c.2961C>G (p.Leu987=)
 gnomAD v4
9g.123373687C>TCA467206648CRB2c.3156C>T (p.Leu1052=)
c.2160C>T (p.Leu720=)
n.2270C>T
c.3129C>T (p.Leu1043=)
c.2961C>T (p.Leu987=)
 gnomAD v4
9g.123373688G>ACA374868134CRB2c.3157G>A (p.Gly1053Ser)
c.2161G>A (p.Gly721Ser)
n.2271G>A
c.3130G>A (p.Gly1044Ser)
c.2962G>A (p.Gly988Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.123373688G>CCA374868135CRB2c.3157G>C (p.Gly1053Arg)
c.2161G>C (p.Gly721Arg)
n.2271G>C
c.3130G>C (p.Gly1044Arg)
c.2962G>C (p.Gly988Arg)
 gnomAD v4
9g.123373688G=CA1877939406CRB2c.3157G= (p.Gly1053=)
c.2161G= (p.Gly721=)
n.2271G=
c.3130G= (p.Gly1044=)
c.2962G= (p.Gly988=)
9g.123373688G>TCA374868136CRB2c.3157G>T (p.Gly1053Cys)
c.2161G>T (p.Gly721Cys)
n.2271G>T
c.3130G>T (p.Gly1044Cys)
c.2962G>T (p.Gly988Cys)
 gnomAD v4
9g.123373689G>ACA199639144CRB2c.3158G>A (p.Gly1053Asp)
c.2162G>A (p.Gly721Asp)
n.2272G>A
c.3131G>A (p.Gly1044Asp)
c.2963G>A (p.Gly988Asp)
 dbSNP gnomAD v4
9g.123373689G>CCA374868137CRB2c.3158G>C (p.Gly1053Ala)
c.2162G>C (p.Gly721Ala)
n.2272G>C
c.3131G>C (p.Gly1044Ala)
c.2963G>C (p.Gly988Ala)
 gnomAD v4
9g.123373689G=CA1877939412CRB2c.3158G= (p.Gly1053=)
c.2162G= (p.Gly721=)
n.2272G=
c.3131G= (p.Gly1044=)
c.2963G= (p.Gly988=)
9g.123373689G>TCA374868138CRB2c.3158G>T (p.Gly1053Val)
c.2162G>T (p.Gly721Val)
n.2272G>T
c.3131G>T (p.Gly1044Val)
c.2963G>T (p.Gly988Val)
 gnomAD v4
9g.123373690C>ACA467206655CRB2c.3159C>A (p.Gly1053=)
c.2163C>A (p.Gly721=)
n.2273C>A
c.3132C>A (p.Gly1044=)
c.2964C>A (p.Gly988=)
 gnomAD v4
9g.123373690C>GCA467206656CRB2c.3159C>G (p.Gly1053=)
c.2163C>G (p.Gly721=)
n.2273C>G
c.3132C>G (p.Gly1044=)
c.2964C>G (p.Gly988=)
9g.123373690C>TCA467206657CRB2c.3159C>T (p.Gly1053=)
c.2163C>T (p.Gly721=)
n.2273C>T
c.3132C>T (p.Gly1044=)
c.2964C>T (p.Gly988=)
 gnomAD v4
9g.123373691T>ACA374868139CRB2c.3160T>A (p.Cys1054Ser)
c.2164T>A (p.Cys722Ser)
n.2274T>A
c.3133T>A (p.Cys1045Ser)
c.2965T>A (p.Cys989Ser)
9g.123373691T>CCA374868140CRB2c.3160T>C (p.Cys1054Arg)
c.2164T>C (p.Cys722Arg)
n.2274T>C
c.3133T>C (p.Cys1045Arg)
c.2965T>C (p.Cys989Arg)
 gnomAD v4
9g.123373691T>GCA374868141CRB2c.3160T>G (p.Cys1054Gly)
c.2164T>G (p.Cys722Gly)
n.2274T>G
c.3133T>G (p.Cys1045Gly)
c.2965T>G (p.Cys989Gly)
9g.123373692G>ACA374868142CRB2c.3161G>A (p.Cys1054Tyr)
c.2165G>A (p.Cys722Tyr)
n.2275G>A
c.3134G>A (p.Cys1045Tyr)
c.2966G>A (p.Cys989Tyr)
 gnomAD v4
9g.123373692G>CCA374868144CRB2c.3161G>C (p.Cys1054Ser)
c.2165G>C (p.Cys722Ser)
n.2275G>C
c.3134G>C (p.Cys1045Ser)
c.2966G>C (p.Cys989Ser)
9g.123373692G>TCA374868143CRB2c.3161G>T (p.Cys1054Phe)
c.2165G>T (p.Cys722Phe)
n.2275G>T
c.3134G>T (p.Cys1045Phe)
c.2966G>T (p.Cys989Phe)
 gnomAD v4
9g.123373692_123373693delinsGCCA1877939417CRB2c.3161_3162delinsGC (p.Cys1054=)
c.2165_2166delinsGC (p.Cys722=)
n.2275_2276delinsGC
c.3134_3135delinsGC (p.Cys1045=)
c.2966_2967delinsGC (p.Cys989=)
9g.123373693C>ACA374868145CRB2c.3162C>A (p.Cys1054Ter)
c.2166C>A (p.Cys722Ter)
n.2276C>A
c.3135C>A (p.Cys1045Ter)
c.2967C>A (p.Cys989Ter)
 dbSNP gnomAD v3 gnomAD v4
9g.123373693C=CA1877939420CRB2c.3162C= (p.Cys1054=)
c.2166C= (p.Cys722=)
n.2276C=
c.3135C= (p.Cys1045=)
c.2967C= (p.Cys989=)
9g.123373693C>GCA374868146CRB2c.3162C>G (p.Cys1054Trp)
c.2166C>G (p.Cys722Trp)
n.2276C>G
c.3135C>G (p.Cys1045Trp)
c.2967C>G (p.Cys989Trp)
9g.123373693C>TCA467206665CRB2c.3162C>T (p.Cys1054=)
c.2166C>T (p.Cys722=)
n.2276C>T
c.3135C>T (p.Cys1045=)
c.2967C>T (p.Cys989=)
 gnomAD v4
9g.123373694delCA5232370CRB2c.3163del (p.Arg1055AlafsTer?)
c.2167del (p.Arg723AlafsTer?)
n.2277del
c.3136del (p.Arg1046AlafsTer?)
c.2968del (p.Arg990AlafsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.123373694C>ACA374868147CRB2c.3163C>A (p.Arg1055Ser)
c.2167C>A (p.Arg723Ser)
n.2277C>A
c.3136C>A (p.Arg1046Ser)
c.2968C>A (p.Arg990Ser)
 dbSNP gnomAD v4
9g.123373694C=CA1877939426CRB2c.3163C= (p.Arg1055=)
c.2167C= (p.Arg723=)
n.2277C=
c.3136C= (p.Arg1046=)
c.2968C= (p.Arg990=)
9g.123373694C>GCA374868148CRB2c.3163C>G (p.Arg1055Gly)
c.2167C>G (p.Arg723Gly)
n.2277C>G
c.3136C>G (p.Arg1046Gly)
c.2968C>G (p.Arg990Gly)
 dbSNP gnomAD v3 gnomAD v4
9g.123373694C>TCA5232371CRB2c.3163C>T (p.Arg1055Cys)
c.2167C>T (p.Arg723Cys)
n.2277C>T
c.3136C>T (p.Arg1046Cys)
c.2968C>T (p.Arg990Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
9g.123373695delCA2785875777CRB2c.3164del (p.Arg1055ProfsTer?)
c.2168del (p.Arg723ProfsTer?)
n.2278del
c.3137del (p.Arg1046ProfsTer?)
c.2969del (p.Arg990ProfsTer?)
9g.123373695G>ACA374868149CRB2c.3164G>A (p.Arg1055His)
c.2168G>A (p.Arg723His)
n.2278G>A
c.3137G>A (p.Arg1046His)
c.2969G>A (p.Arg990His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.123373695G>CCA374868150CRB2c.3164G>C (p.Arg1055Pro)
c.2168G>C (p.Arg723Pro)
n.2278G>C
c.3137G>C (p.Arg1046Pro)
c.2969G>C (p.Arg990Pro)
9g.123373695G=CA1877939433CRB2c.3164G= (p.Arg1055=)
c.2168G= (p.Arg723=)
n.2278G=
c.3137G= (p.Arg1046=)
c.2969G= (p.Arg990=)
9g.123373695G>TCA374868151CRB2c.3164G>T (p.Arg1055Leu)
c.2168G>T (p.Arg723Leu)
n.2278G>T
c.3137G>T (p.Arg1046Leu)
c.2969G>T (p.Arg990Leu)
 gnomAD v4
9g.123373696C>ACA467206669CRB2c.3165C>A (p.Arg1055=)
c.2169C>A (p.Arg723=)
n.2279C>A
c.3138C>A (p.Arg1046=)
c.2970C>A (p.Arg990=)
 gnomAD v4
9g.123373696C=CA1877939446CRB2c.3165C= (p.Arg1055=)
c.2169C= (p.Arg723=)
n.2279C=
c.3138C= (p.Arg1046=)
c.2970C= (p.Arg990=)
9g.123373696C>GCA467206671CRB2c.3165C>G (p.Arg1055=)
c.2169C>G (p.Arg723=)
n.2279C>G
c.3138C>G (p.Arg1046=)
c.2970C>G (p.Arg990=)
 dbSNP gnomAD v4
9g.123373696C>TCA5232372CRB2c.3165C>T (p.Arg1055=)
c.2169C>T (p.Arg723=)
n.2279C>T
c.3138C>T (p.Arg1046=)
c.2970C>T (p.Arg990=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.123373697G>ACA5232373CRB2c.3166G>A (p.Gly1056Ser)
c.2170G>A (p.Gly724Ser)
n.2280G>A
c.3139G>A (p.Gly1047Ser)
c.2971G>A (p.Gly991Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.123373697G>CCA374868152CRB2c.3166G>C (p.Gly1056Arg)
c.2170G>C (p.Gly724Arg)
n.2280G>C
c.3139G>C (p.Gly1047Arg)
c.2971G>C (p.Gly991Arg)
9g.123373697G=CA1877939450CRB2c.3166G= (p.Gly1056=)
c.2170G= (p.Gly724=)
n.2280G=
c.3139G= (p.Gly1047=)
c.2971G= (p.Gly991=)
9g.123373697G>TCA374868153CRB2c.3166G>T (p.Gly1056Cys)
c.2170G>T (p.Gly724Cys)
n.2280G>T
c.3139G>T (p.Gly1047Cys)
c.2971G>T (p.Gly991Cys)
 gnomAD v4
9g.123373698G>ACA374868154CRB2c.3167G>A (p.Gly1056Asp)
c.2171G>A (p.Gly724Asp)
n.2281G>A
c.3140G>A (p.Gly1047Asp)
c.2972G>A (p.Gly991Asp)
 gnomAD v4
9g.123373698G>CCA374868156CRB2c.3167G>C (p.Gly1056Ala)
c.2171G>C (p.Gly724Ala)
n.2281G>C
c.3140G>C (p.Gly1047Ala)
c.2972G>C (p.Gly991Ala)
 gnomAD v4
9g.123373698G>TCA374868155CRB2c.3167G>T (p.Gly1056Val)
c.2171G>T (p.Gly724Val)
n.2281G>T
c.3140G>T (p.Gly1047Val)
c.2972G>T (p.Gly991Val)
 gnomAD v4
9g.123373702_123373703delCA2503940484CRB2c.3171_3172del (p.Pro1058ArgfsTer15)
c.2175_2176del (p.Pro726ArgfsTer15)
n.2285_2286del
c.3144_3145del (p.Pro1049ArgfsTer15)
c.2976_2977del (p.Pro993ArgfsTer15)
 gnomAD v4
9g.123373699C>ACA467206680CRB2c.3168C>A (p.Gly1056=)
c.2172C>A (p.Gly724=)
n.2282C>A
c.3141C>A (p.Gly1047=)
c.2973C>A (p.Gly991=)
 dbSNP gnomAD v4
9g.123373699C=CA1877939457CRB2c.3168C= (p.Gly1056=)
c.2172C= (p.Gly724=)
n.2282C=
c.3141C= (p.Gly1047=)
c.2973C= (p.Gly991=)
9g.123373699C>GCA467206681CRB2c.3168C>G (p.Gly1056=)
c.2172C>G (p.Gly724=)
n.2282C>G
c.3141C>G (p.Gly1047=)
c.2973C>G (p.Gly991=)
9g.123373699C>TCA467206682CRB2c.3168C>T (p.Gly1056=)
c.2172C>T (p.Gly724=)
n.2282C>T
c.3141C>T (p.Gly1047=)
c.2973C>T (p.Gly991=)
 dbSNP gnomAD v4
9g.123373699_123373711delinsCGCGCCCGTGTGTCA1877939456CRB2c.3168_3180delinsCGCGCCCGTGTGT (p.Gly1056=)
c.2172_2184delinsCGCGCCCGTGTGT (p.Gly724=)
n.2282_2294delinsCGCGCCCGTGTGT
c.3141_3153delinsCGCGCCCGTGTGT (p.Gly1047=)
c.2973_2985delinsCGCGCCCGTGTGT (p.Gly991=)
9g.123373700G>ACA374868157CRB2c.3169G>A (p.Ala1057Thr)
c.2173G>A (p.Ala725Thr)
n.2283G>A
c.3142G>A (p.Ala1048Thr)
c.2974G>A (p.Ala992Thr)
 dbSNP gnomAD v4
9g.123373700G>CCA374868158CRB2c.3169G>C (p.Ala1057Pro)
c.2173G>C (p.Ala725Pro)
n.2283G>C
c.3142G>C (p.Ala1048Pro)
c.2974G>C (p.Ala992Pro)
9g.123373700G=CA1877939462CRB2c.3169G= (p.Ala1057=)
c.2173G= (p.Ala725=)
n.2283G=
c.3142G= (p.Ala1048=)
c.2974G= (p.Ala992=)
9g.123373700G>TCA374868159CRB2c.3169G>T (p.Ala1057Ser)
c.2173G>T (p.Ala725Ser)
n.2283G>T
c.3142G>T (p.Ala1048Ser)
c.2974G>T (p.Ala992Ser)
 gnomAD v4
9g.123373706_123373717dupCA859790993CRB2c.3175_3186dup (p.Pro1062_Ser1063insValCysAlaPro)
c.2179_2190dup (p.Pro730_Ser731insValCysAlaPro)
n.2289_2300dup
c.3148_3159dup (p.Pro1053_Ser1054insValCysAlaPro)
c.2980_2991dup (p.Pro997_Ser998insValCysAlaPro)
 dbSNP gnomAD v4
9g.123373706_123373717delCA859790998CRB2c.3175_3186del (p.Val1059_Pro1062del)
c.2179_2190del (p.Val727_Pro730del)
n.2289_2300del
c.3148_3159del (p.Val1050_Pro1053del)
c.2980_2991del (p.Val994_Pro997del)
 dbSNP gnomAD v4
9g.123373701C>ACA374868160CRB2c.3170C>A (p.Ala1057Glu)
c.2174C>A (p.Ala725Glu)
n.2284C>A
c.3143C>A (p.Ala1048Glu)
c.2975C>A (p.Ala992Glu)
 gnomAD v4
9g.123373701C=CA1877939466CRB2c.3170C= (p.Ala1057=)
c.2174C= (p.Ala725=)
n.2284C=
c.3143C= (p.Ala1048=)
c.2975C= (p.Ala992=)
9g.123373701C>GCA374868161CRB2c.3170C>G (p.Ala1057Gly)
c.2174C>G (p.Ala725Gly)
n.2284C>G
c.3143C>G (p.Ala1048Gly)
c.2975C>G (p.Ala992Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373701C>TCA374868162CRB2c.3170C>T (p.Ala1057Val)
c.2174C>T (p.Ala725Val)
n.2284C>T
c.3143C>T (p.Ala1048Val)
c.2975C>T (p.Ala992Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373702G>ACA467206689CRB2c.3171G>A (p.Ala1057=)
c.2175G>A (p.Ala725=)
n.2285G>A
c.3144G>A (p.Ala1048=)
c.2976G>A (p.Ala992=)
 dbSNP gnomAD v3 gnomAD v4
9g.123373702G>CCA467206687CRB2c.3171G>C (p.Ala1057=)
c.2175G>C (p.Ala725=)
n.2285G>C
c.3144G>C (p.Ala1048=)
c.2976G>C (p.Ala992=)
9g.123373702G=CA1877939470CRB2c.3171G= (p.Ala1057=)
c.2175G= (p.Ala725=)
n.2285G=
c.3144G= (p.Ala1048=)
c.2976G= (p.Ala992=)
9g.123373702G>TCA467206685CRB2c.3171G>T (p.Ala1057=)
c.2175G>T (p.Ala725=)
n.2285G>T
c.3144G>T (p.Ala1048=)
c.2976G>T (p.Ala992=)
 gnomAD v4
9g.123373703C>ACA374868163CRB2c.3172C>A (p.Pro1058Thr)
c.2176C>A (p.Pro726Thr)
n.2286C>A
c.3145C>A (p.Pro1049Thr)
c.2977C>A (p.Pro993Thr)
 gnomAD v4
9g.123373703C>GCA374868164CRB2c.3172C>G (p.Pro1058Ala)
c.2176C>G (p.Pro726Ala)
n.2286C>G
c.3145C>G (p.Pro1049Ala)
c.2977C>G (p.Pro993Ala)
9g.123373703C>TCA374868165CRB2c.3172C>T (p.Pro1058Ser)
c.2176C>T (p.Pro726Ser)
n.2286C>T
c.3145C>T (p.Pro1049Ser)
c.2977C>T (p.Pro993Ser)
 gnomAD v4
9g.123373704C>ACA374868168CRB2c.3173C>A (p.Pro1058His)
c.2177C>A (p.Pro726His)
n.2287C>A
c.3146C>A (p.Pro1049His)
c.2978C>A (p.Pro993His)
 gnomAD v4
9g.123373704C>GCA374868167CRB2c.3173C>G (p.Pro1058Arg)
c.2177C>G (p.Pro726Arg)
n.2287C>G
c.3146C>G (p.Pro1049Arg)
c.2978C>G (p.Pro993Arg)
9g.123373704C>TCA374868166CRB2c.3173C>T (p.Pro1058Leu)
c.2177C>T (p.Pro726Leu)
n.2287C>T
c.3146C>T (p.Pro1049Leu)
c.2978C>T (p.Pro993Leu)
 gnomAD v4
9g.123373709_123373748delCA2691590178CRB2c.3178_3217del (p.Cys1060ThrfsTer?)
c.2182_2221del (p.Cys728ThrfsTer?)
n.2292_2331del
c.3151_3190del (p.Cys1051ThrfsTer?)
c.2983_3022del (p.Cys995ThrfsTer?)
 gnomAD v4
9g.123373705C>ACA5232376CRB2c.3174C>A (p.Pro1058=)
c.2178C>A (p.Pro726=)
n.2288C>A
c.3147C>A (p.Pro1049=)
c.2979C>A (p.Pro993=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373705C=CA1877939499CRB2c.3174C= (p.Pro1058=)
c.2178C= (p.Pro726=)
n.2288C=
c.3147C= (p.Pro1049=)
c.2979C= (p.Pro993=)
9g.123373705C>GCA5232374CRB2c.3174C>G (p.Pro1058=)
c.2178C>G (p.Pro726=)
n.2288C>G
c.3147C>G (p.Pro1049=)
c.2979C>G (p.Pro993=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373705C>TCA5232375CRB2c.3174C>T (p.Pro1058=)
c.2178C>T (p.Pro726=)
n.2288C>T
c.3147C>T (p.Pro1049=)
c.2979C>T (p.Pro993=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.123373706G>ACA5232377CRB2c.3175G>A (p.Val1059Met)
c.2179G>A (p.Val727Met)
n.2289G>A
c.3148G>A (p.Val1050Met)
c.2980G>A (p.Val994Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.123373706G>CCA5232378CRB2c.3175G>C (p.Val1059Leu)
c.2179G>C (p.Val727Leu)
n.2289G>C
c.3148G>C (p.Val1050Leu)
c.2980G>C (p.Val994Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.123373706G=CA1877939509CRB2c.3175G= (p.Val1059=)
c.2179G= (p.Val727=)
n.2289G=
c.3148G= (p.Val1050=)
c.2980G= (p.Val994=)
9g.123373706G>TCA374868169CRB2c.3175G>T (p.Val1059Leu)
c.2179G>T (p.Val727Leu)
n.2289G>T
c.3148G>T (p.Val1050Leu)
c.2980G>T (p.Val994Leu)
 gnomAD v4
9g.123373707_123373712delCA2691590185CRB2c.3176_3181del (p.Val1059_Cys1060del)
c.2180_2185del (p.Val727_Cys728del)
n.2290_2295del
c.3149_3154del (p.Val1050_Cys1051del)
c.2981_2986del (p.Val994_Cys995del)
 gnomAD v4
9g.123373707T>ACA374868172CRB2c.3176T>A (p.Val1059Glu)
c.2180T>A (p.Val727Glu)
n.2290T>A
c.3149T>A (p.Val1050Glu)
c.2981T>A (p.Val994Glu)
9g.123373707T>CCA374868171CRB2c.3176T>C (p.Val1059Ala)
c.2180T>C (p.Val727Ala)
n.2290T>C
c.3149T>C (p.Val1050Ala)
c.2981T>C (p.Val994Ala)
9g.123373707T>GCA374868170CRB2c.3176T>G (p.Val1059Gly)
c.2180T>G (p.Val727Gly)
n.2290T>G
c.3149T>G (p.Val1050Gly)
c.2981T>G (p.Val994Gly)
9g.123373708G>ACA467206693CRB2c.3177G>A (p.Val1059=)
c.2181G>A (p.Val727=)
n.2291G>A
c.3150G>A (p.Val1050=)
c.2982G>A (p.Val994=)
 dbSNP gnomAD v4
9g.123373708G>CCA467206694CRB2c.3177G>C (p.Val1059=)
c.2181G>C (p.Val727=)
n.2291G>C
c.3150G>C (p.Val1050=)
c.2982G>C (p.Val994=)
 gnomAD v4
9g.123373708G>TCA467206695CRB2c.3177G>T (p.Val1059=)
c.2181G>T (p.Val727=)
n.2291G>T
c.3150G>T (p.Val1050=)
c.2982G>T (p.Val994=)
 gnomAD v4
9g.123373709T>ACA374868173CRB2c.3178T>A (p.Cys1060Ser)
c.2182T>A (p.Cys728Ser)
n.2292T>A
c.3151T>A (p.Cys1051Ser)
c.2983T>A (p.Cys995Ser)
9g.123373709T>CCA374868174CRB2c.3178T>C (p.Cys1060Arg)
c.2182T>C (p.Cys728Arg)
n.2292T>C
c.3151T>C (p.Cys1051Arg)
c.2983T>C (p.Cys995Arg)
9g.123373709T>GCA374868175CRB2c.3178T>G (p.Cys1060Gly)
c.2182T>G (p.Cys728Gly)
n.2292T>G
c.3151T>G (p.Cys1051Gly)
c.2983T>G (p.Cys995Gly)
9g.123373710G>ACA374868176CRB2c.3179G>A (p.Cys1060Tyr)
c.2183G>A (p.Cys728Tyr)
n.2293G>A
c.3152G>A (p.Cys1051Tyr)
c.2984G>A (p.Cys995Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373710G>CCA374868177CRB2c.3179G>C (p.Cys1060Ser)
c.2183G>C (p.Cys728Ser)
n.2293G>C
c.3152G>C (p.Cys1051Ser)
c.2984G>C (p.Cys995Ser)
 dbSNP gnomAD v2
9g.123373710G=CA1877939513CRB2c.3179G= (p.Cys1060=)
c.2183G= (p.Cys728=)
n.2293G=
c.3152G= (p.Cys1051=)
c.2984G= (p.Cys995=)
9g.123373710G>TCA374868178CRB2c.3179G>T (p.Cys1060Phe)
c.2183G>T (p.Cys728Phe)
n.2293G>T
c.3152G>T (p.Cys1051Phe)
c.2984G>T (p.Cys995Phe)
9g.123373711T>ACA374868180CRB2c.3180T>A (p.Cys1060Ter)
c.2184T>A (p.Cys728Ter)
n.2294T>A
c.3153T>A (p.Cys1051Ter)
c.2985T>A (p.Cys995Ter)
 dbSNP
9g.123373711T>CCA5232380CRB2c.3180T>C (p.Cys1060=)
c.2184T>C (p.Cys728=)
n.2294T>C
c.3153T>C (p.Cys1051=)
c.2985T>C (p.Cys995=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373711T>GCA374868179CRB2c.3180T>G (p.Cys1060Trp)
c.2184T>G (p.Cys728Trp)
n.2294T>G
c.3153T>G (p.Cys1051Trp)
c.2985T>G (p.Cys995Trp)
9g.123373711T=CA1877939516CRB2c.3180T= (p.Cys1060=)
c.2184T= (p.Cys728=)
n.2294T=
c.3153T= (p.Cys1051=)
c.2985T= (p.Cys995=)
9g.123373714_123373730dupCA5232379CRB2c.3183_3199dup (p.His1067ArgfsTer?)
c.2187_2203dup (p.His735ArgfsTer?)
n.2297_2313dup
c.3156_3172dup (p.His1058ArgfsTer?)
c.2988_3004dup (p.His1002ArgfsTer?)
 dbSNP ExAC gnomAD v3 gnomAD v4
9g.123373712G>ACA374868181CRB2c.3181G>A (p.Ala1061Thr)
c.2185G>A (p.Ala729Thr)
n.2295G>A
c.3154G>A (p.Ala1052Thr)
c.2986G>A (p.Ala996Thr)
 gnomAD v4
9g.123373712G>CCA374868182CRB2c.3181G>C (p.Ala1061Pro)
c.2185G>C (p.Ala729Pro)
n.2295G>C
c.3154G>C (p.Ala1052Pro)
c.2986G>C (p.Ala996Pro)
9g.123373712G=CA1877939521CRB2c.3181G= (p.Ala1061=)
c.2185G= (p.Ala729=)
n.2295G=
c.3154G= (p.Ala1052=)
c.2986G= (p.Ala996=)
9g.123373712G>TCA374868183CRB2c.3181G>T (p.Ala1061Ser)
c.2185G>T (p.Ala729Ser)
n.2295G>T
c.3154G>T (p.Ala1052Ser)
c.2986G>T (p.Ala996Ser)
 gnomAD v4
9g.123373712_123373730dupCA2691590191CRB2c.3181_3199dup (p.His1067ArgfsTer13)
c.2185_2203dup (p.His735ArgfsTer13)
n.2295_2313dup
c.3154_3172dup (p.His1058ArgfsTer13)
c.2986_3004dup (p.His1002ArgfsTer13)
 gnomAD v4
9g.123373713C>ACA374868184CRB2c.3182C>A (p.Ala1061Glu)
c.2186C>A (p.Ala729Glu)
n.2296C>A
c.3155C>A (p.Ala1052Glu)
c.2987C>A (p.Ala996Glu)
 dbSNP gnomAD v4
9g.123373713C=CA1877939535CRB2c.3182C= (p.Ala1061=)
c.2186C= (p.Ala729=)
n.2296C=
c.3155C= (p.Ala1052=)
c.2987C= (p.Ala996=)
9g.123373713C>GCA374868185CRB2c.3182C>G (p.Ala1061Gly)
c.2186C>G (p.Ala729Gly)
n.2296C>G
c.3155C>G (p.Ala1052Gly)
c.2987C>G (p.Ala996Gly)
9g.123373713C>TCA199639203CRB2c.3182C>T (p.Ala1061Val)
c.2186C>T (p.Ala729Val)
n.2296C>T
c.3155C>T (p.Ala1052Val)
c.2987C>T (p.Ala996Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373715_123373733dupCA199639201CRB2c.3184_3202dup (p.Asp1068AlafsTer12)
c.2188_2206dup (p.Asp736AlafsTer12)
n.2298_2316dup
c.3157_3175dup (p.Asp1059AlafsTer12)
c.2989_3007dup (p.Asp1003AlafsTer12)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373714G>ACA467206696CRB2c.3183G>A (p.Ala1061=)
c.2187G>A (p.Ala729=)
n.2297G>A
c.3156G>A (p.Ala1052=)
c.2988G>A (p.Ala996=)
 dbSNP gnomAD v2 gnomAD v4
9g.123373714G>CCA467206697CRB2c.3183G>C (p.Ala1061=)
c.2187G>C (p.Ala729=)
n.2297G>C
c.3156G>C (p.Ala1052=)
c.2988G>C (p.Ala996=)
9g.123373714G=CA1877939540CRB2c.3183G= (p.Ala1061=)
c.2187G= (p.Ala729=)
n.2297G=
c.3156G= (p.Ala1052=)
c.2988G= (p.Ala996=)
9g.123373714G>TCA467206698CRB2c.3183G>T (p.Ala1061=)
c.2187G>T (p.Ala729=)
n.2297G>T
c.3156G>T (p.Ala1052=)
c.2988G>T (p.Ala996=)
 gnomAD v4
9g.123373715C>ACA374868186CRB2c.3184C>A (p.Pro1062Thr)
c.2188C>A (p.Pro730Thr)
n.2298C>A
c.3157C>A (p.Pro1053Thr)
c.2989C>A (p.Pro997Thr)
9g.123373715C=CA1877939546CRB2c.3184C= (p.Pro1062=)
c.2188C= (p.Pro730=)
n.2298C=
c.3157C= (p.Pro1053=)
c.2989C= (p.Pro997=)
9g.123373715C>GCA374868187CRB2c.3184C>G (p.Pro1062Ala)
c.2188C>G (p.Pro730Ala)
n.2298C>G
c.3157C>G (p.Pro1053Ala)
c.2989C>G (p.Pro997Ala)
9g.123373715C>TCA374868188CRB2c.3184C>T (p.Pro1062Ser)
c.2188C>T (p.Pro730Ser)
n.2298C>T
c.3157C>T (p.Pro1053Ser)
c.2989C>T (p.Pro997Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.123373716_123373732dupCA5232381CRB2c.3185_3201dup (p.Asp1068ProfsTer?)
c.2189_2205dup (p.Asp736ProfsTer?)
n.2299_2315dup
c.3158_3174dup (p.Asp1059ProfsTer?)
c.2990_3006dup (p.Asp1003ProfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373716C>ACA374868189CRB2c.3185C>A (p.Pro1062His)
c.2189C>A (p.Pro730His)
n.2299C>A
c.3158C>A (p.Pro1053His)
c.2990C>A (p.Pro997His)
 gnomAD v4
9g.123373716C>GCA374868191CRB2c.3185C>G (p.Pro1062Arg)
c.2189C>G (p.Pro730Arg)
n.2299C>G
c.3158C>G (p.Pro1053Arg)
c.2990C>G (p.Pro997Arg)
9g.123373716C>TCA374868190CRB2c.3185C>T (p.Pro1062Leu)
c.2189C>T (p.Pro730Leu)
n.2299C>T
c.3158C>T (p.Pro1053Leu)
c.2990C>T (p.Pro997Leu)
 gnomAD v4
9g.123373717C>ACA467206699CRB2c.3186C>A (p.Pro1062=)
c.2190C>A (p.Pro730=)
n.2300C>A
c.3159C>A (p.Pro1053=)
c.2991C>A (p.Pro997=)
 gnomAD v4
9g.123373717C>GCA467206700CRB2c.3186C>G (p.Pro1062=)
c.2190C>G (p.Pro730=)
n.2300C>G
c.3159C>G (p.Pro1053=)
c.2991C>G (p.Pro997=)
9g.123373717C>TCA467206701CRB2c.3186C>T (p.Pro1062=)
c.2190C>T (p.Pro730=)
n.2300C>T
c.3159C>T (p.Pro1053=)
c.2991C>T (p.Pro997=)
9g.123373718_123373719delCA2691590196CRB2c.3187_3188del (p.Ser1063AlafsTer10)
c.2191_2192del (p.Ser731AlafsTer10)
n.2301_2302del
c.3160_3161del (p.Ser1054AlafsTer10)
c.2992_2993del (p.Ser998AlafsTer10)
 gnomAD v4
9g.123373718T>ACA374868192CRB2c.3187T>A (p.Ser1063Thr)
c.2191T>A (p.Ser731Thr)
n.2301T>A
c.3160T>A (p.Ser1054Thr)
c.2992T>A (p.Ser998Thr)
9g.123373718T>CCA374868193CRB2c.3187T>C (p.Ser1063Pro)
c.2191T>C (p.Ser731Pro)
n.2301T>C
c.3160T>C (p.Ser1054Pro)
c.2992T>C (p.Ser998Pro)
 gnomAD v4
9g.123373718T>GCA374868194CRB2c.3187T>G (p.Ser1063Ala)
c.2191T>G (p.Ser731Ala)
n.2301T>G
c.3160T>G (p.Ser1054Ala)
c.2992T>G (p.Ser998Ala)
9g.123373719C>ACA374868195CRB2c.3188C>A (p.Ser1063Ter)
c.2192C>A (p.Ser731Ter)
n.2302C>A
c.3161C>A (p.Ser1054Ter)
c.2993C>A (p.Ser998Ter)
 gnomAD v4
9g.123373719C=CA1877939550CRB2c.3188C= (p.Ser1063=)
c.2192C= (p.Ser731=)
n.2302C=
c.3161C= (p.Ser1054=)
c.2993C= (p.Ser998=)
9g.123373719C>GCA374868196CRB2c.3188C>G (p.Ser1063Trp)
c.2192C>G (p.Ser731Trp)
n.2302C>G
c.3161C>G (p.Ser1054Trp)
c.2993C>G (p.Ser998Trp)
9g.123373719C>TCA199639214CRB2c.3188C>T (p.Ser1063Leu)
c.2192C>T (p.Ser731Leu)
n.2302C>T
c.3161C>T (p.Ser1054Leu)
c.2993C>T (p.Ser998Leu)
 dbSNP gnomAD v2 gnomAD v4
9g.123373720G>ACA467206702CRB2c.3189G>A (p.Ser1063=)
c.2193G>A (p.Ser731=)
n.2303G>A
c.3162G>A (p.Ser1054=)
c.2994G>A (p.Ser998=)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
9g.123373720G>CCA5232382CRB2c.3189G>C (p.Ser1063=)
c.2193G>C (p.Ser731=)
n.2303G>C
c.3162G>C (p.Ser1054=)
c.2994G>C (p.Ser998=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373720G=CA1877939563CRB2c.3189G= (p.Ser1063=)
c.2193G= (p.Ser731=)
n.2303G=
c.3162G= (p.Ser1054=)
c.2994G= (p.Ser998=)
9g.123373720G>TCA467206703CRB2c.3189G>T (p.Ser1063=)
c.2193G>T (p.Ser731=)
n.2303G>T
c.3162G>T (p.Ser1054=)
c.2994G>T (p.Ser998=)
 gnomAD v4
9g.123373721C>ACA374868197CRB2c.3190C>A (p.Pro1064Thr)
c.2194C>A (p.Pro732Thr)
n.2304C>A
c.3163C>A (p.Pro1055Thr)
c.2995C>A (p.Pro999Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373721C=CA1877939570CRB2c.3190C= (p.Pro1064=)
c.2194C= (p.Pro732=)
n.2304C=
c.3163C= (p.Pro1055=)
c.2995C= (p.Pro999=)
9g.123373721C>GCA374868198CRB2c.3190C>G (p.Pro1064Ala)
c.2194C>G (p.Pro732Ala)
n.2304C>G
c.3163C>G (p.Pro1055Ala)
c.2995C>G (p.Pro999Ala)
9g.123373721C>TCA199639221CRB2c.3190C>T (p.Pro1064Ser)
c.2194C>T (p.Pro732Ser)
n.2304C>T
c.3163C>T (p.Pro1055Ser)
c.2995C>T (p.Pro999Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373722C>ACA374868199CRB2c.3191C>A (p.Pro1064His)
c.2195C>A (p.Pro732His)
n.2305C>A
c.3164C>A (p.Pro1055His)
c.2996C>A (p.Pro999His)
 gnomAD v4
9g.123373722C=CA1877939583CRB2c.3191C= (p.Pro1064=)
c.2195C= (p.Pro732=)
n.2305C=
c.3164C= (p.Pro1055=)
c.2996C= (p.Pro999=)
9g.123373722C>GCA374868200CRB2c.3191C>G (p.Pro1064Arg)
c.2195C>G (p.Pro732Arg)
n.2305C>G
c.3164C>G (p.Pro1055Arg)
c.2996C>G (p.Pro999Arg)
9g.123373722C>TCA374868201CRB2c.3191C>T (p.Pro1064Leu)
c.2195C>T (p.Pro732Leu)
n.2305C>T
c.3164C>T (p.Pro1055Leu)
c.2996C>T (p.Pro999Leu)
 dbSNP gnomAD v3 gnomAD v4
9g.123373723C>ACA467206704CRB2c.3192C>A (p.Pro1064=)
c.2196C>A (p.Pro732=)
n.2306C>A
c.3165C>A (p.Pro1055=)
c.2997C>A (p.Pro999=)
 gnomAD v4
9g.123373723C=CA1877939589CRB2c.3192C= (p.Pro1064=)
c.2196C= (p.Pro732=)
n.2306C=
c.3165C= (p.Pro1055=)
c.2997C= (p.Pro999=)
9g.123373723C>GCA467206705CRB2c.3192C>G (p.Pro1064=)
c.2196C>G (p.Pro732=)
n.2306C>G
c.3165C>G (p.Pro1055=)
c.2997C>G (p.Pro999=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373723C>TCA467206706CRB2c.3192C>T (p.Pro1064=)
c.2196C>T (p.Pro732=)
n.2306C>T
c.3165C>T (p.Pro1055=)
c.2997C>T (p.Pro999=)
 dbSNP gnomAD v4
9g.123373723_123373724delCA2579446665CRB2c.3192_3193del (p.Cys1065SerfsTer8)
c.2196_2197del (p.Cys733SerfsTer8)
n.2306_2307del
c.3165_3166del (p.Cys1056SerfsTer8)
c.2997_2998del (p.Cys1000SerfsTer8)
9g.123373724T>ACA374868202CRB2c.3193T>A (p.Cys1065Ser)
c.2197T>A (p.Cys733Ser)
n.2307T>A
c.3166T>A (p.Cys1056Ser)
c.2998T>A (p.Cys1000Ser)
9g.123373724T>CCA374868204CRB2c.3193T>C (p.Cys1065Arg)
c.2197T>C (p.Cys733Arg)
n.2307T>C
c.3166T>C (p.Cys1056Arg)
c.2998T>C (p.Cys1000Arg)
 gnomAD v4
9g.123373724T>GCA374868203CRB2c.3193T>G (p.Cys1065Gly)
c.2197T>G (p.Cys733Gly)
n.2307T>G
c.3166T>G (p.Cys1056Gly)
c.2998T>G (p.Cys1000Gly)
9g.123373725G>ACA374868205CRB2c.3194G>A (p.Cys1065Tyr)
c.2198G>A (p.Cys733Tyr)
n.2308G>A
c.3167G>A (p.Cys1056Tyr)
c.2999G>A (p.Cys1000Tyr)
 gnomAD v4
9g.123373725G>CCA374868206CRB2c.3194G>C (p.Cys1065Ser)
c.2198G>C (p.Cys733Ser)
n.2308G>C
c.3167G>C (p.Cys1056Ser)
c.2999G>C (p.Cys1000Ser)
9g.123373725G>TCA374868207CRB2c.3194G>T (p.Cys1065Phe)
c.2198G>T (p.Cys733Phe)
n.2308G>T
c.3167G>T (p.Cys1056Phe)
c.2999G>T (p.Cys1000Phe)
 gnomAD v4
9g.123373726T>ACA374868208CRB2c.3195T>A (p.Cys1065Ter)
c.2199T>A (p.Cys733Ter)
n.2309T>A
c.3168T>A (p.Cys1056Ter)
c.3000T>A (p.Cys1000Ter)
9g.123373726T>CCA467206707CRB2c.3195T>C (p.Cys1065=)
c.2199T>C (p.Cys733=)
n.2309T>C
c.3168T>C (p.Cys1056=)
c.3000T>C (p.Cys1000=)
9g.123373726T>GCA374868209CRB2c.3195T>G (p.Cys1065Trp)
c.2199T>G (p.Cys733Trp)
n.2309T>G
c.3168T>G (p.Cys1056Trp)
c.3000T>G (p.Cys1000Trp)
9g.123373727C>ACA374868210CRB2c.3196C>A (p.Leu1066Met)
c.2200C>A (p.Leu734Met)
n.2310C>A
c.3169C>A (p.Leu1057Met)
c.3001C>A (p.Leu1001Met)
 gnomAD v4
9g.123373727C=CA1877939597CRB2c.3196C= (p.Leu1066=)
c.2200C= (p.Leu734=)
n.2310C=
c.3169C= (p.Leu1057=)
c.3001C= (p.Leu1001=)
9g.123373727C>GCA374868211CRB2c.3196C>G (p.Leu1066Val)
c.2200C>G (p.Leu734Val)
n.2310C>G
c.3169C>G (p.Leu1057Val)
c.3001C>G (p.Leu1001Val)
9g.123373727C>TCA5232383CRB2c.3196C>T (p.Leu1066=)
c.2200C>T (p.Leu734=)
n.2310C>T
c.3169C>T (p.Leu1057=)
c.3001C>T (p.Leu1001=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373728T>ACA374868212CRB2c.3197T>A (p.Leu1066Gln)
c.2201T>A (p.Leu734Gln)
n.2311T>A
c.3170T>A (p.Leu1057Gln)
c.3002T>A (p.Leu1001Gln)
9g.123373728T>CCA374868213CRB2c.3197T>C (p.Leu1066Pro)
c.2201T>C (p.Leu734Pro)
n.2311T>C
c.3170T>C (p.Leu1057Pro)
c.3002T>C (p.Leu1001Pro)
 gnomAD v4
9g.123373728T>GCA374868214CRB2c.3197T>G (p.Leu1066Arg)
c.2201T>G (p.Leu734Arg)
n.2311T>G
c.3170T>G (p.Leu1057Arg)
c.3002T>G (p.Leu1001Arg)
 gnomAD v4
9g.123373729G>ACA467206710CRB2c.3198G>A (p.Leu1066=)
c.2202G>A (p.Leu734=)
n.2312G>A
c.3171G>A (p.Leu1057=)
c.3003G>A (p.Leu1001=)
 gnomAD v4
9g.123373729G>CCA467206709CRB2c.3198G>C (p.Leu1066=)
c.2202G>C (p.Leu734=)
n.2312G>C
c.3171G>C (p.Leu1057=)
c.3003G>C (p.Leu1001=)
9g.123373729G>TCA467206708CRB2c.3198G>T (p.Leu1066=)
c.2202G>T (p.Leu734=)
n.2312G>T
c.3171G>T (p.Leu1057=)
c.3003G>T (p.Leu1001=)
 gnomAD v4
9g.123373730C>ACA374868216CRB2c.3199C>A (p.His1067Asn)
c.2203C>A (p.His735Asn)
n.2313C>A
c.3172C>A (p.His1058Asn)
c.3004C>A (p.His1002Asn)
 gnomAD v4
9g.123373730C>GCA374868217CRB2c.3199C>G (p.His1067Asp)
c.2203C>G (p.His735Asp)
n.2313C>G
c.3172C>G (p.His1058Asp)
c.3004C>G (p.His1002Asp)
9g.123373730C>TCA374868215CRB2c.3199C>T (p.His1067Tyr)
c.2203C>T (p.His735Tyr)
n.2313C>T
c.3172C>T (p.His1058Tyr)
c.3004C>T (p.His1002Tyr)
 gnomAD v4
9g.123373731A>CCA374868218CRB2c.3200A>C (p.His1067Pro)
c.2204A>C (p.His735Pro)
n.2314A>C
c.3173A>C (p.His1058Pro)
c.3005A>C (p.His1002Pro)
9g.123373731A>GCA374868219CRB2c.3200A>G (p.His1067Arg)
c.2204A>G (p.His735Arg)
n.2314A>G
c.3173A>G (p.His1058Arg)
c.3005A>G (p.His1002Arg)
 gnomAD v4
9g.123373731A>TCA374868220CRB2c.3200A>T (p.His1067Leu)
c.2204A>T (p.His735Leu)
n.2314A>T
c.3173A>T (p.His1058Leu)
c.3005A>T (p.His1002Leu)
9g.123373732C>ACA374868221CRB2c.3201C>A (p.His1067Gln)
c.2205C>A (p.His735Gln)
n.2315C>A
c.3174C>A (p.His1058Gln)
c.3006C>A (p.His1002Gln)
 gnomAD v4
9g.123373732C=CA1877939606CRB2c.3201C= (p.His1067=)
c.2205C= (p.His735=)
n.2315C=
c.3174C= (p.His1058=)
c.3006C= (p.His1002=)
9g.123373732C>GCA374868222CRB2c.3201C>G (p.His1067Gln)
c.2205C>G (p.His735Gln)
n.2315C>G
c.3174C>G (p.His1058Gln)
c.3006C>G (p.His1002Gln)
 gnomAD v4
9g.123373732C>TCA5232384CRB2c.3201C>T (p.His1067=)
c.2205C>T (p.His735=)
n.2315C>T
c.3174C>T (p.His1058=)
c.3006C>T (p.His1002=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373733G>ACA5232386CRB2c.3202G>A (p.Asp1068Asn)
c.2206G>A (p.Asp736Asn)
n.2316G>A
c.3175G>A (p.Asp1059Asn)
c.3007G>A (p.Asp1003Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373733G>CCA5232385CRB2c.3202G>C (p.Asp1068His)
c.2206G>C (p.Asp736His)
n.2316G>C
c.3175G>C (p.Asp1059His)
c.3007G>C (p.Asp1003His)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.123373733G=CA1877939609CRB2c.3202G= (p.Asp1068=)
c.2206G= (p.Asp736=)
n.2316G=
c.3175G= (p.Asp1059=)
c.3007G= (p.Asp1003=)
9g.123373733G>TCA374868223CRB2c.3202G>T (p.Asp1068Tyr)
c.2206G>T (p.Asp736Tyr)
n.2316G>T
c.3175G>T (p.Asp1059Tyr)
c.3007G>T (p.Asp1003Tyr)
 gnomAD v4
9g.123373734A=CA1877939613CRB2c.3203A= (p.Asp1068=)
c.2207A= (p.Asp736=)
n.2317A=
c.3176A= (p.Asp1059=)
c.3008A= (p.Asp1003=)
9g.123373734A>CCA374868224CRB2c.3203A>C (p.Asp1068Ala)
c.2207A>C (p.Asp736Ala)
n.2317A>C
c.3176A>C (p.Asp1059Ala)
c.3008A>C (p.Asp1003Ala)
9g.123373734A>GCA374868225CRB2c.3203A>G (p.Asp1068Gly)
c.2207A>G (p.Asp736Gly)
n.2317A>G
c.3176A>G (p.Asp1059Gly)
c.3008A>G (p.Asp1003Gly)
9g.123373734A>TCA374868226CRB2c.3203A>T (p.Asp1068Val)
c.2207A>T (p.Asp736Val)
n.2317A>T
c.3176A>T (p.Asp1059Val)
c.3008A>T (p.Asp1003Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.123373735C>ACA374868228CRB2c.3204C>A (p.Asp1068Glu)
c.2208C>A (p.Asp736Glu)
n.2318C>A
c.3177C>A (p.Asp1059Glu)
c.3009C>A (p.Asp1003Glu)
 gnomAD v4
9g.123373735C=CA1877939617CRB2c.3204C= (p.Asp1068=)
c.2208C= (p.Asp736=)
n.2318C=
c.3177C= (p.Asp1059=)
c.3009C= (p.Asp1003=)
9g.123373735C>GCA374868227CRB2c.3204C>G (p.Asp1068Glu)
c.2208C>G (p.Asp736Glu)
n.2318C>G
c.3177C>G (p.Asp1059Glu)
c.3009C>G (p.Asp1003Glu)
9g.123373735C>TCA5232387CRB2c.3204C>T (p.Asp1068=)
c.2208C>T (p.Asp736=)
n.2318C>T
c.3177C>T (p.Asp1059=)
c.3009C>T (p.Asp1003=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.123373736G>ACA374868229CRB2c.3205G>A (p.Gly1069Ser)
c.2209G>A (p.Gly737Ser)
n.2319G>A
c.3178G>A (p.Gly1060Ser)
c.3010G>A (p.Gly1004Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.123373736G>CCA374868230CRB2c.3205G>C (p.Gly1069Arg)
c.2209G>C (p.Gly737Arg)
n.2319G>C
c.3178G>C (p.Gly1060Arg)
c.3010G>C (p.Gly1004Arg)
9g.123373736G=CA1877939628CRB2c.3205G= (p.Gly1069=)
c.2209G= (p.Gly737=)
n.2319G=
c.3178G= (p.Gly1060=)
c.3010G= (p.Gly1004=)
9g.123373736G>TCA374868231CRB2c.3205G>T (p.Gly1069Cys)
c.2209G>T (p.Gly737Cys)
n.2319G>T
c.3178G>T (p.Gly1060Cys)
c.3010G>T (p.Gly1004Cys)
 gnomAD v4

Number of alleles fetched