Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
1g.197434899G>ACA422808718CRB1c.3036G>A (p.Leu1012=)
c.1917G>A (p.Leu639=)
c.1179G>A (p.Leu393=)
c.2700G>A (p.Leu900=)
c.2964G>A (p.Leu988=)
c.2129-701G>A (n.2129-701G>A)
n.3037G>A
n.3245G>A
c.2454G>A (p.Leu818=)
c.1479G>A (p.Leu493=)
c.2193G>A (p.Leu731=)
c.3171G>A (p.Leu1057=)
n.2989G>A
n.3197G>A
 COSMIC COSMIC
1g.197434899G>CCA344044791CRB1c.3036G>C (p.Leu1012Phe)
c.1917G>C (p.Leu639Phe)
c.1179G>C (p.Leu393Phe)
c.2700G>C (p.Leu900Phe)
c.2964G>C (p.Leu988Phe)
c.2129-701G>C (n.2129-701G>C)
n.3037G>C
n.3245G>C
c.2454G>C (p.Leu818Phe)
c.1479G>C (p.Leu493Phe)
c.2193G>C (p.Leu731Phe)
c.3171G>C (p.Leu1057Phe)
n.2989G>C
n.3197G>C
1g.197434899G>TCA344044793CRB1c.3036G>T (p.Leu1012Phe)
c.1917G>T (p.Leu639Phe)
c.1179G>T (p.Leu393Phe)
c.2700G>T (p.Leu900Phe)
c.2964G>T (p.Leu988Phe)
c.2129-701G>T (n.2129-701G>T)
n.3037G>T
n.3245G>T
c.2454G>T (p.Leu818Phe)
c.1479G>T (p.Leu493Phe)
c.2193G>T (p.Leu731Phe)
c.3171G>T (p.Leu1057Phe)
n.2989G>T
n.3197G>T
1g.197434900C>ACA344044800CRB1c.3037C>A (p.Gln1013Lys)
c.1918C>A (p.Gln640Lys)
c.1180C>A (p.Gln394Lys)
c.2701C>A (p.Gln901Lys)
c.2965C>A (p.Gln989Lys)
c.2129-700C>A (n.2129-700C>A)
n.3038C>A
n.3246C>A
c.2455C>A (p.Gln819Lys)
c.1480C>A (p.Gln494Lys)
c.2194C>A (p.Gln732Lys)
c.3172C>A (p.Gln1058Lys)
n.2990C>A
n.3198C>A
1g.197434900C=CA1141934419CRB1c.3037C= (p.Gln1013=)
c.1918C= (p.Gln640=)
c.1180C= (p.Gln394=)
c.2701C= (p.Gln901=)
c.2965C= (p.Gln989=)
c.2129-700C= (n.2129-700C=)
n.3038C=
n.3246C=
c.2455C= (p.Gln819=)
c.1480C= (p.Gln494=)
c.2194C= (p.Gln732=)
c.3172C= (p.Gln1058=)
n.2990C=
n.3198C=
1g.197434900C>GCA344044809CRB1c.3037C>G (p.Gln1013Glu)
c.1918C>G (p.Gln640Glu)
c.1180C>G (p.Gln394Glu)
c.2701C>G (p.Gln901Glu)
c.2965C>G (p.Gln989Glu)
c.2129-700C>G (n.2129-700C>G)
n.3038C>G
n.3246C>G
c.2455C>G (p.Gln819Glu)
c.1480C>G (p.Gln494Glu)
c.2194C>G (p.Gln732Glu)
c.3172C>G (p.Gln1058Glu)
n.2990C>G
n.3198C>G
1g.197434900C>TCA1312264CRB1c.3037C>T (p.Gln1013Ter)
c.1918C>T (p.Gln640Ter)
c.1180C>T (p.Gln394Ter)
c.2701C>T (p.Gln901Ter)
c.2965C>T (p.Gln989Ter)
c.2129-700C>T (n.2129-700C>T)
n.3038C>T
n.3246C>T
c.2455C>T (p.Gln819Ter)
c.1480C>T (p.Gln494Ter)
c.2194C>T (p.Gln732Ter)
c.3172C>T (p.Gln1058Ter)
n.2990C>T
n.3198C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434901A=CA1218068712CRB1c.3038A= (p.Gln1013=)
c.1919A= (p.Gln640=)
c.1181A= (p.Gln394=)
c.2702A= (p.Gln901=)
c.2966A= (p.Gln989=)
c.2129-699A= (n.2129-699A=)
n.3039A=
n.3247A=
c.2456A= (p.Gln819=)
c.1481A= (p.Gln494=)
c.2195A= (p.Gln732=)
c.3173A= (p.Gln1058=)
n.2991A=
n.3199A=
1g.197434901A>CCA10605363CRB1c.3038A>C (p.Gln1013Pro)
c.1919A>C (p.Gln640Pro)
c.1181A>C (p.Gln394Pro)
c.2702A>C (p.Gln901Pro)
c.2966A>C (p.Gln989Pro)
c.2129-699A>C (n.2129-699A>C)
n.3039A>C
n.3247A>C
c.2456A>C (p.Gln819Pro)
c.1481A>C (p.Gln494Pro)
c.2195A>C (p.Gln732Pro)
c.3173A>C (p.Gln1058Pro)
n.2991A>C
n.3199A>C
 ClinVar dbSNP gnomAD v4
1g.197434901A>GCA344044811CRB1c.3038A>G (p.Gln1013Arg)
c.1919A>G (p.Gln640Arg)
c.1181A>G (p.Gln394Arg)
c.2702A>G (p.Gln901Arg)
c.2966A>G (p.Gln989Arg)
c.2129-699A>G (n.2129-699A>G)
n.3039A>G
n.3247A>G
c.2456A>G (p.Gln819Arg)
c.1481A>G (p.Gln494Arg)
c.2195A>G (p.Gln732Arg)
c.3173A>G (p.Gln1058Arg)
n.2991A>G
n.3199A>G
1g.197434901A>TCA344044815CRB1c.3038A>T (p.Gln1013Leu)
c.1919A>T (p.Gln640Leu)
c.1181A>T (p.Gln394Leu)
c.2702A>T (p.Gln901Leu)
c.2966A>T (p.Gln989Leu)
c.2129-699A>T (n.2129-699A>T)
n.3039A>T
n.3247A>T
c.2456A>T (p.Gln819Leu)
c.1481A>T (p.Gln494Leu)
c.2195A>T (p.Gln732Leu)
c.3173A>T (p.Gln1058Leu)
n.2991A>T
n.3199A>T
1g.197434902A>CCA344044833CRB1c.3039A>C (p.Gln1013His)
c.1920A>C (p.Gln640His)
c.1182A>C (p.Gln394His)
c.2703A>C (p.Gln901His)
c.2967A>C (p.Gln989His)
c.2129-698A>C (n.2129-698A>C)
n.3040A>C
n.3248A>C
c.2457A>C (p.Gln819His)
c.1482A>C (p.Gln494His)
c.2196A>C (p.Gln732His)
c.3174A>C (p.Gln1058His)
n.2992A>C
n.3200A>C
1g.197434902A>GCA422808722CRB1c.3039A>G (p.Gln1013=)
c.1920A>G (p.Gln640=)
c.1182A>G (p.Gln394=)
c.2703A>G (p.Gln901=)
c.2967A>G (p.Gln989=)
c.2129-698A>G (n.2129-698A>G)
n.3040A>G
n.3248A>G
c.2457A>G (p.Gln819=)
c.1482A>G (p.Gln494=)
c.2196A>G (p.Gln732=)
c.3174A>G (p.Gln1058=)
n.2992A>G
n.3200A>G
1g.197434902A>TCA344044834CRB1c.3039A>T (p.Gln1013His)
c.1920A>T (p.Gln640His)
c.1182A>T (p.Gln394His)
c.2703A>T (p.Gln901His)
c.2967A>T (p.Gln989His)
c.2129-698A>T (n.2129-698A>T)
n.3040A>T
n.3248A>T
c.2457A>T (p.Gln819His)
c.1482A>T (p.Gln494His)
c.2196A>T (p.Gln732His)
c.3174A>T (p.Gln1058His)
n.2992A>T
n.3200A>T
1g.197434903A>CCA344044835CRB1c.3040A>C (p.Ser1014Arg)
c.1921A>C (p.Ser641Arg)
c.1183A>C (p.Ser395Arg)
c.2704A>C (p.Ser902Arg)
c.2968A>C (p.Ser990Arg)
c.2129-697A>C (n.2129-697A>C)
n.3041A>C
n.3249A>C
c.2458A>C (p.Ser820Arg)
c.1483A>C (p.Ser495Arg)
c.2197A>C (p.Ser733Arg)
c.3175A>C (p.Ser1059Arg)
n.2993A>C
n.3201A>C
1g.197434903A>GCA344044836CRB1c.3040A>G (p.Ser1014Gly)
c.1921A>G (p.Ser641Gly)
c.1183A>G (p.Ser395Gly)
c.2704A>G (p.Ser902Gly)
c.2968A>G (p.Ser990Gly)
c.2129-697A>G (n.2129-697A>G)
n.3041A>G
n.3249A>G
c.2458A>G (p.Ser820Gly)
c.1483A>G (p.Ser495Gly)
c.2197A>G (p.Ser733Gly)
c.3175A>G (p.Ser1059Gly)
n.2993A>G
n.3201A>G
1g.197434903A>TCA344044838CRB1c.3040A>T (p.Ser1014Cys)
c.1921A>T (p.Ser641Cys)
c.1183A>T (p.Ser395Cys)
c.2704A>T (p.Ser902Cys)
c.2968A>T (p.Ser990Cys)
c.2129-697A>T (n.2129-697A>T)
n.3041A>T
n.3249A>T
c.2458A>T (p.Ser820Cys)
c.1483A>T (p.Ser495Cys)
c.2197A>T (p.Ser733Cys)
c.3175A>T (p.Ser1059Cys)
n.2993A>T
n.3201A>T
1g.197434904G>ACA1312265CRB1c.3041G>A (p.Ser1014Asn)
c.1922G>A (p.Ser641Asn)
c.1184G>A (p.Ser395Asn)
c.2705G>A (p.Ser902Asn)
c.2969G>A (p.Ser990Asn)
c.2129-696G>A (n.2129-696G>A)
n.3042G>A
n.3250G>A
c.2459G>A (p.Ser820Asn)
c.1484G>A (p.Ser495Asn)
c.2198G>A (p.Ser733Asn)
c.3176G>A (p.Ser1059Asn)
n.2994G>A
n.3202G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434904G>CCA344044844CRB1c.3041G>C (p.Ser1014Thr)
c.1922G>C (p.Ser641Thr)
c.1184G>C (p.Ser395Thr)
c.2705G>C (p.Ser902Thr)
c.2969G>C (p.Ser990Thr)
c.2129-696G>C (n.2129-696G>C)
n.3042G>C
n.3250G>C
c.2459G>C (p.Ser820Thr)
c.1484G>C (p.Ser495Thr)
c.2198G>C (p.Ser733Thr)
c.3176G>C (p.Ser1059Thr)
n.2994G>C
n.3202G>C
1g.197434904G=CA1145283285CRB1c.3041G= (p.Ser1014=)
c.1922G= (p.Ser641=)
c.1184G= (p.Ser395=)
c.2705G= (p.Ser902=)
c.2969G= (p.Ser990=)
c.2129-696G= (n.2129-696G=)
n.3042G=
n.3250G=
c.2459G= (p.Ser820=)
c.1484G= (p.Ser495=)
c.2198G= (p.Ser733=)
c.3176G= (p.Ser1059=)
n.2994G=
n.3202G=
1g.197434904G>TCA344044847CRB1c.3041G>T (p.Ser1014Ile)
c.1922G>T (p.Ser641Ile)
c.1184G>T (p.Ser395Ile)
c.2705G>T (p.Ser902Ile)
c.2969G>T (p.Ser990Ile)
c.2129-696G>T (n.2129-696G>T)
n.3042G>T
n.3250G>T
c.2459G>T (p.Ser820Ile)
c.1484G>T (p.Ser495Ile)
c.2198G>T (p.Ser733Ile)
c.3176G>T (p.Ser1059Ile)
n.2994G>T
n.3202G>T
1g.197434905T>ACA344044859CRB1c.3042T>A (p.Ser1014Arg)
c.1923T>A (p.Ser641Arg)
c.1185T>A (p.Ser395Arg)
c.2706T>A (p.Ser902Arg)
c.2970T>A (p.Ser990Arg)
c.2129-695T>A (n.2129-695T>A)
n.3043T>A
n.3251T>A
c.2460T>A (p.Ser820Arg)
c.1485T>A (p.Ser495Arg)
c.2199T>A (p.Ser733Arg)
c.3177T>A (p.Ser1059Arg)
n.2995T>A
n.3203T>A
1g.197434905T>CCA1312266CRB1c.3042T>C (p.Ser1014=)
c.1923T>C (p.Ser641=)
c.1185T>C (p.Ser395=)
c.2706T>C (p.Ser902=)
c.2970T>C (p.Ser990=)
c.2129-695T>C (n.2129-695T>C)
n.3043T>C
n.3251T>C
c.2460T>C (p.Ser820=)
c.1485T>C (p.Ser495=)
c.2199T>C (p.Ser733=)
c.3177T>C (p.Ser1059=)
n.2995T>C
n.3203T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434905T>GCA344044868CRB1c.3042T>G (p.Ser1014Arg)
c.1923T>G (p.Ser641Arg)
c.1185T>G (p.Ser395Arg)
c.2706T>G (p.Ser902Arg)
c.2970T>G (p.Ser990Arg)
c.2129-695T>G (n.2129-695T>G)
n.3043T>G
n.3251T>G
c.2460T>G (p.Ser820Arg)
c.1485T>G (p.Ser495Arg)
c.2199T>G (p.Ser733Arg)
c.3177T>G (p.Ser1059Arg)
n.2995T>G
n.3203T>G
1g.197434905T=CA1143993964CRB1c.3042T= (p.Ser1014=)
c.1923T= (p.Ser641=)
c.1185T= (p.Ser395=)
c.2706T= (p.Ser902=)
c.2970T= (p.Ser990=)
c.2129-695T= (n.2129-695T=)
n.3043T=
n.3251T=
c.2460T= (p.Ser820=)
c.1485T= (p.Ser495=)
c.2199T= (p.Ser733=)
c.3177T= (p.Ser1059=)
n.2995T=
n.3203T=
1g.197434906G>ACA344044882CRB1c.3043G>A (p.Gly1015Ser)
c.1924G>A (p.Gly642Ser)
c.1186G>A (p.Gly396Ser)
c.2707G>A (p.Gly903Ser)
c.2971G>A (p.Gly991Ser)
c.2129-694G>A (n.2129-694G>A)
n.3044G>A
n.3252G>A
c.2461G>A (p.Gly821Ser)
c.1486G>A (p.Gly496Ser)
c.2200G>A (p.Gly734Ser)
c.3178G>A (p.Gly1060Ser)
n.2996G>A
n.3204G>A
1g.197434906G>CCA344044881CRB1c.3043G>C (p.Gly1015Arg)
c.1924G>C (p.Gly642Arg)
c.1186G>C (p.Gly396Arg)
c.2707G>C (p.Gly903Arg)
c.2971G>C (p.Gly991Arg)
c.2129-694G>C (n.2129-694G>C)
n.3044G>C
n.3252G>C
c.2461G>C (p.Gly821Arg)
c.1486G>C (p.Gly496Arg)
c.2200G>C (p.Gly734Arg)
c.3178G>C (p.Gly1060Arg)
n.2996G>C
n.3204G>C
1g.197434906G>TCA344044877CRB1c.3043G>T (p.Gly1015Cys)
c.1924G>T (p.Gly642Cys)
c.1186G>T (p.Gly396Cys)
c.2707G>T (p.Gly903Cys)
c.2971G>T (p.Gly991Cys)
c.2129-694G>T (n.2129-694G>T)
n.3044G>T
n.3252G>T
c.2461G>T (p.Gly821Cys)
c.1486G>T (p.Gly496Cys)
c.2200G>T (p.Gly734Cys)
c.3178G>T (p.Gly1060Cys)
n.2996G>T
n.3204G>T
1g.197434907G>ACA344044883CRB1c.3044G>A (p.Gly1015Asp)
c.1925G>A (p.Gly642Asp)
c.1187G>A (p.Gly396Asp)
c.2708G>A (p.Gly903Asp)
c.2972G>A (p.Gly991Asp)
c.2129-693G>A (n.2129-693G>A)
n.3045G>A
n.3253G>A
c.2462G>A (p.Gly821Asp)
c.1487G>A (p.Gly496Asp)
c.2201G>A (p.Gly734Asp)
c.3179G>A (p.Gly1060Asp)
n.2997G>A
n.3205G>A
 dbSNP gnomAD v4
1g.197434907G>CCA344044885CRB1c.3044G>C (p.Gly1015Ala)
c.1925G>C (p.Gly642Ala)
c.1187G>C (p.Gly396Ala)
c.2708G>C (p.Gly903Ala)
c.2972G>C (p.Gly991Ala)
c.2129-693G>C (n.2129-693G>C)
n.3045G>C
n.3253G>C
c.2462G>C (p.Gly821Ala)
c.1487G>C (p.Gly496Ala)
c.2201G>C (p.Gly734Ala)
c.3179G>C (p.Gly1060Ala)
n.2997G>C
n.3205G>C
1g.197434907G=CA1218068713CRB1c.3044G= (p.Gly1015=)
c.1925G= (p.Gly642=)
c.1187G= (p.Gly396=)
c.2708G= (p.Gly903=)
c.2972G= (p.Gly991=)
c.2129-693G= (n.2129-693G=)
n.3045G=
n.3253G=
c.2462G= (p.Gly821=)
c.1487G= (p.Gly496=)
c.2201G= (p.Gly734=)
c.3179G= (p.Gly1060=)
n.2997G=
n.3205G=
1g.197434907G>TCA344044888CRB1c.3044G>T (p.Gly1015Val)
c.1925G>T (p.Gly642Val)
c.1187G>T (p.Gly396Val)
c.2708G>T (p.Gly903Val)
c.2972G>T (p.Gly991Val)
c.2129-693G>T (n.2129-693G>T)
n.3045G>T
n.3253G>T
c.2462G>T (p.Gly821Val)
c.1487G>T (p.Gly496Val)
c.2201G>T (p.Gly734Val)
c.3179G>T (p.Gly1060Val)
n.2997G>T
n.3205G>T
1g.197434908C>ACA422808726CRB1c.3045C>A (p.Gly1015=)
c.1926C>A (p.Gly642=)
c.1188C>A (p.Gly396=)
c.2709C>A (p.Gly903=)
c.2973C>A (p.Gly991=)
c.2129-692C>A (n.2129-692C>A)
n.3046C>A
n.3254C>A
c.2463C>A (p.Gly821=)
c.1488C>A (p.Gly496=)
c.2202C>A (p.Gly734=)
c.3180C>A (p.Gly1060=)
n.2998C>A
n.3206C>A
1g.197434908C=CA1218068714CRB1c.3045C= (p.Gly1015=)
c.1926C= (p.Gly642=)
c.1188C= (p.Gly396=)
c.2709C= (p.Gly903=)
c.2973C= (p.Gly991=)
c.2129-692C= (n.2129-692C=)
n.3046C=
n.3254C=
c.2463C= (p.Gly821=)
c.1488C= (p.Gly496=)
c.2202C= (p.Gly734=)
c.3180C= (p.Gly1060=)
n.2998C=
n.3206C=
1g.197434908C>GCA422808727CRB1c.3045C>G (p.Gly1015=)
c.1926C>G (p.Gly642=)
c.1188C>G (p.Gly396=)
c.2709C>G (p.Gly903=)
c.2973C>G (p.Gly991=)
c.2129-692C>G (n.2129-692C>G)
n.3046C>G
n.3254C>G
c.2463C>G (p.Gly821=)
c.1488C>G (p.Gly496=)
c.2202C>G (p.Gly734=)
c.3180C>G (p.Gly1060=)
n.2998C>G
n.3206C>G
1g.197434908C>TCA35906883CRB1c.3045C>T (p.Gly1015=)
c.1926C>T (p.Gly642=)
c.1188C>T (p.Gly396=)
c.2709C>T (p.Gly903=)
c.2973C>T (p.Gly991=)
c.2129-692C>T (n.2129-692C>T)
n.3046C>T
n.3254C>T
c.2463C>T (p.Gly821=)
c.1488C>T (p.Gly496=)
c.2202C>T (p.Gly734=)
c.3180C>T (p.Gly1060=)
n.2998C>T
n.3206C>T
 dbSNP gnomAD v3 gnomAD v4
1g.197434909A>CCA344044891CRB1c.3046A>C (p.Asn1016His)
c.1927A>C (p.Asn643His)
c.1189A>C (p.Asn397His)
c.2710A>C (p.Asn904His)
c.2974A>C (p.Asn992His)
c.2129-691A>C (n.2129-691A>C)
n.3047A>C
n.3255A>C
c.2464A>C (p.Asn822His)
c.1489A>C (p.Asn497His)
c.2203A>C (p.Asn735His)
c.3181A>C (p.Asn1061His)
n.2999A>C
n.3207A>C
1g.197434909A>GCA344044893CRB1c.3046A>G (p.Asn1016Asp)
c.1927A>G (p.Asn643Asp)
c.1189A>G (p.Asn397Asp)
c.2710A>G (p.Asn904Asp)
c.2974A>G (p.Asn992Asp)
c.2129-691A>G (n.2129-691A>G)
n.3047A>G
n.3255A>G
c.2464A>G (p.Asn822Asp)
c.1489A>G (p.Asn497Asp)
c.2203A>G (p.Asn735Asp)
c.3181A>G (p.Asn1061Asp)
n.2999A>G
n.3207A>G
1g.197434909A>TCA344044902CRB1c.3046A>T (p.Asn1016Tyr)
c.1927A>T (p.Asn643Tyr)
c.1189A>T (p.Asn397Tyr)
c.2710A>T (p.Asn904Tyr)
c.2974A>T (p.Asn992Tyr)
c.2129-691A>T (n.2129-691A>T)
n.3047A>T
n.3255A>T
c.2464A>T (p.Asn822Tyr)
c.1489A>T (p.Asn497Tyr)
c.2203A>T (p.Asn735Tyr)
c.3181A>T (p.Asn1061Tyr)
n.2999A>T
n.3207A>T
1g.197434910A>CCA344044910CRB1c.3047A>C (p.Asn1016Thr)
c.1928A>C (p.Asn643Thr)
c.1190A>C (p.Asn397Thr)
c.2711A>C (p.Asn904Thr)
c.2975A>C (p.Asn992Thr)
c.2129-690A>C (n.2129-690A>C)
n.3048A>C
n.3256A>C
c.2465A>C (p.Asn822Thr)
c.1490A>C (p.Asn497Thr)
c.2204A>C (p.Asn735Thr)
c.3182A>C (p.Asn1061Thr)
n.3000A>C
n.3208A>C
1g.197434910A>GCA344044907CRB1c.3047A>G (p.Asn1016Ser)
c.1928A>G (p.Asn643Ser)
c.1190A>G (p.Asn397Ser)
c.2711A>G (p.Asn904Ser)
c.2975A>G (p.Asn992Ser)
c.2129-690A>G (n.2129-690A>G)
n.3048A>G
n.3256A>G
c.2465A>G (p.Asn822Ser)
c.1490A>G (p.Asn497Ser)
c.2204A>G (p.Asn735Ser)
c.3182A>G (p.Asn1061Ser)
n.3000A>G
n.3208A>G
1g.197434910A>TCA344044908CRB1c.3047A>T (p.Asn1016Ile)
c.1928A>T (p.Asn643Ile)
c.1190A>T (p.Asn397Ile)
c.2711A>T (p.Asn904Ile)
c.2975A>T (p.Asn992Ile)
c.2129-690A>T (n.2129-690A>T)
n.3048A>T
n.3256A>T
c.2465A>T (p.Asn822Ile)
c.1490A>T (p.Asn497Ile)
c.2204A>T (p.Asn735Ile)
c.3182A>T (p.Asn1061Ile)
n.3000A>T
n.3208A>T
1g.197434911C>ACA344044915CRB1c.3048C>A (p.Asn1016Lys)
c.1929C>A (p.Asn643Lys)
c.1191C>A (p.Asn397Lys)
c.2712C>A (p.Asn904Lys)
c.2976C>A (p.Asn992Lys)
c.2129-689C>A (n.2129-689C>A)
n.3049C>A
n.3257C>A
c.2466C>A (p.Asn822Lys)
c.1491C>A (p.Asn497Lys)
c.2205C>A (p.Asn735Lys)
c.3183C>A (p.Asn1061Lys)
n.3001C>A
n.3209C>A
1g.197434911C>GCA344044917CRB1c.3048C>G (p.Asn1016Lys)
c.1929C>G (p.Asn643Lys)
c.1191C>G (p.Asn397Lys)
c.2712C>G (p.Asn904Lys)
c.2976C>G (p.Asn992Lys)
c.2129-689C>G (n.2129-689C>G)
n.3049C>G
n.3257C>G
c.2466C>G (p.Asn822Lys)
c.1491C>G (p.Asn497Lys)
c.2205C>G (p.Asn735Lys)
c.3183C>G (p.Asn1061Lys)
n.3001C>G
n.3209C>G
1g.197434911C>TCA422808730CRB1c.3048C>T (p.Asn1016=)
c.1929C>T (p.Asn643=)
c.1191C>T (p.Asn397=)
c.2712C>T (p.Asn904=)
c.2976C>T (p.Asn992=)
c.2129-689C>T (n.2129-689C>T)
n.3049C>T
n.3257C>T
c.2466C>T (p.Asn822=)
c.1491C>T (p.Asn497=)
c.2205C>T (p.Asn735=)
c.3183C>T (p.Asn1061=)
n.3001C>T
n.3209C>T
 ClinVar dbSNP gnomAD v4
1g.197434912A>CCA344044919CRB1c.3049A>C (p.Ser1017Arg)
c.1930A>C (p.Ser644Arg)
c.1192A>C (p.Ser398Arg)
c.2713A>C (p.Ser905Arg)
c.2977A>C (p.Ser993Arg)
c.2129-688A>C (n.2129-688A>C)
n.3050A>C
n.3258A>C
c.2467A>C (p.Ser823Arg)
c.1492A>C (p.Ser498Arg)
c.2206A>C (p.Ser736Arg)
c.3184A>C (p.Ser1062Arg)
n.3002A>C
n.3210A>C
1g.197434912A>GCA344044929CRB1c.3049A>G (p.Ser1017Gly)
c.1930A>G (p.Ser644Gly)
c.1192A>G (p.Ser398Gly)
c.2713A>G (p.Ser905Gly)
c.2977A>G (p.Ser993Gly)
c.2129-688A>G (n.2129-688A>G)
n.3050A>G
n.3258A>G
c.2467A>G (p.Ser823Gly)
c.1492A>G (p.Ser498Gly)
c.2206A>G (p.Ser736Gly)
c.3184A>G (p.Ser1062Gly)
n.3002A>G
n.3210A>G
 ClinVar dbSNP
1g.197434912A>TCA344044931CRB1c.3049A>T (p.Ser1017Cys)
c.1930A>T (p.Ser644Cys)
c.1192A>T (p.Ser398Cys)
c.2713A>T (p.Ser905Cys)
c.2977A>T (p.Ser993Cys)
c.2129-688A>T (n.2129-688A>T)
n.3050A>T
n.3258A>T
c.2467A>T (p.Ser823Cys)
c.1492A>T (p.Ser498Cys)
c.2206A>T (p.Ser736Cys)
c.3184A>T (p.Ser1062Cys)
n.3002A>T
n.3210A>T
1g.197434913G>ACA344044940CRB1c.3050G>A (p.Ser1017Asn)
c.1931G>A (p.Ser644Asn)
c.1193G>A (p.Ser398Asn)
c.2714G>A (p.Ser905Asn)
c.2978G>A (p.Ser993Asn)
c.2129-687G>A (n.2129-687G>A)
n.3051G>A
n.3259G>A
c.2468G>A (p.Ser823Asn)
c.1493G>A (p.Ser498Asn)
c.2207G>A (p.Ser736Asn)
c.3185G>A (p.Ser1062Asn)
n.3003G>A
n.3211G>A
1g.197434913G>CCA344044957CRB1c.3050G>C (p.Ser1017Thr)
c.1931G>C (p.Ser644Thr)
c.1193G>C (p.Ser398Thr)
c.2714G>C (p.Ser905Thr)
c.2978G>C (p.Ser993Thr)
c.2129-687G>C (n.2129-687G>C)
n.3051G>C
n.3259G>C
c.2468G>C (p.Ser823Thr)
c.1493G>C (p.Ser498Thr)
c.2207G>C (p.Ser736Thr)
c.3185G>C (p.Ser1062Thr)
n.3003G>C
n.3211G>C
1g.197434913G>TCA344044948CRB1c.3050G>T (p.Ser1017Ile)
c.1931G>T (p.Ser644Ile)
c.1193G>T (p.Ser398Ile)
c.2714G>T (p.Ser905Ile)
c.2978G>T (p.Ser993Ile)
c.2129-687G>T (n.2129-687G>T)
n.3051G>T
n.3259G>T
c.2468G>T (p.Ser823Ile)
c.1493G>T (p.Ser498Ile)
c.2207G>T (p.Ser736Ile)
c.3185G>T (p.Ser1062Ile)
n.3003G>T
n.3211G>T
1g.197434914C>ACA344044962CRB1c.3051C>A (p.Ser1017Arg)
c.1932C>A (p.Ser644Arg)
c.1194C>A (p.Ser398Arg)
c.2715C>A (p.Ser905Arg)
c.2979C>A (p.Ser993Arg)
c.2129-686C>A (n.2129-686C>A)
n.3052C>A
n.3260C>A
c.2469C>A (p.Ser823Arg)
c.1494C>A (p.Ser498Arg)
c.2208C>A (p.Ser736Arg)
c.3186C>A (p.Ser1062Arg)
n.3004C>A
n.3212C>A
1g.197434914C>GCA344044976CRB1c.3051C>G (p.Ser1017Arg)
c.1932C>G (p.Ser644Arg)
c.1194C>G (p.Ser398Arg)
c.2715C>G (p.Ser905Arg)
c.2979C>G (p.Ser993Arg)
c.2129-686C>G (n.2129-686C>G)
n.3052C>G
n.3260C>G
c.2469C>G (p.Ser823Arg)
c.1494C>G (p.Ser498Arg)
c.2208C>G (p.Ser736Arg)
c.3186C>G (p.Ser1062Arg)
n.3004C>G
n.3212C>G
1g.197434914C>TCA422808733CRB1c.3051C>T (p.Ser1017=)
c.1932C>T (p.Ser644=)
c.1194C>T (p.Ser398=)
c.2715C>T (p.Ser905=)
c.2979C>T (p.Ser993=)
c.2129-686C>T (n.2129-686C>T)
n.3052C>T
n.3260C>T
c.2469C>T (p.Ser823=)
c.1494C>T (p.Ser498=)
c.2208C>T (p.Ser736=)
c.3186C>T (p.Ser1062=)
n.3004C>T
n.3212C>T
 ClinVar gnomAD v4 COSMIC
1g.197434915T>ACA344044980CRB1c.3052T>A (p.Phe1018Ile)
c.1933T>A (p.Phe645Ile)
c.1195T>A (p.Phe399Ile)
c.2716T>A (p.Phe906Ile)
c.2980T>A (p.Phe994Ile)
c.2129-685T>A (n.2129-685T>A)
n.3053T>A
n.3261T>A
c.2470T>A (p.Phe824Ile)
c.1495T>A (p.Phe499Ile)
c.2209T>A (p.Phe737Ile)
c.3187T>A (p.Phe1063Ile)
n.3005T>A
n.3213T>A
1g.197434915T>CCA344044995CRB1c.3052T>C (p.Phe1018Leu)
c.1933T>C (p.Phe645Leu)
c.1195T>C (p.Phe399Leu)
c.2716T>C (p.Phe906Leu)
c.2980T>C (p.Phe994Leu)
c.2129-685T>C (n.2129-685T>C)
n.3053T>C
n.3261T>C
c.2470T>C (p.Phe824Leu)
c.1495T>C (p.Phe499Leu)
c.2209T>C (p.Phe737Leu)
c.3187T>C (p.Phe1063Leu)
n.3005T>C
n.3213T>C
 COSMIC COSMIC
1g.197434915T>GCA344044997CRB1c.3052T>G (p.Phe1018Val)
c.1933T>G (p.Phe645Val)
c.1195T>G (p.Phe399Val)
c.2716T>G (p.Phe906Val)
c.2980T>G (p.Phe994Val)
c.2129-685T>G (n.2129-685T>G)
n.3053T>G
n.3261T>G
c.2470T>G (p.Phe824Val)
c.1495T>G (p.Phe499Val)
c.2209T>G (p.Phe737Val)
c.3187T>G (p.Phe1063Val)
n.3005T>G
n.3213T>G
1g.197434916T>ACA344045013CRB1c.3053T>A (p.Phe1018Tyr)
c.1934T>A (p.Phe645Tyr)
c.1196T>A (p.Phe399Tyr)
c.2717T>A (p.Phe906Tyr)
c.2981T>A (p.Phe994Tyr)
c.2129-684T>A (n.2129-684T>A)
n.3054T>A
n.3262T>A
c.2471T>A (p.Phe824Tyr)
c.1496T>A (p.Phe499Tyr)
c.2210T>A (p.Phe737Tyr)
c.3188T>A (p.Phe1063Tyr)
n.3006T>A
n.3214T>A
1g.197434916T>CCA344045017CRB1c.3053T>C (p.Phe1018Ser)
c.1934T>C (p.Phe645Ser)
c.1196T>C (p.Phe399Ser)
c.2717T>C (p.Phe906Ser)
c.2981T>C (p.Phe994Ser)
c.2129-684T>C (n.2129-684T>C)
n.3054T>C
n.3262T>C
c.2471T>C (p.Phe824Ser)
c.1496T>C (p.Phe499Ser)
c.2210T>C (p.Phe737Ser)
c.3188T>C (p.Phe1063Ser)
n.3006T>C
n.3214T>C
 gnomAD v4
1g.197434916T>GCA344045023CRB1c.3053T>G (p.Phe1018Cys)
c.1934T>G (p.Phe645Cys)
c.1196T>G (p.Phe399Cys)
c.2717T>G (p.Phe906Cys)
c.2981T>G (p.Phe994Cys)
c.2129-684T>G (n.2129-684T>G)
n.3054T>G
n.3262T>G
c.2471T>G (p.Phe824Cys)
c.1496T>G (p.Phe499Cys)
c.2210T>G (p.Phe737Cys)
c.3188T>G (p.Phe1063Cys)
n.3006T>G
n.3214T>G
 dbSNP gnomAD v4
1g.197434916T=CA1218068715CRB1c.3053T= (p.Phe1018=)
c.1934T= (p.Phe645=)
c.1196T= (p.Phe399=)
c.2717T= (p.Phe906=)
c.2981T= (p.Phe994=)
c.2129-684T= (n.2129-684T=)
n.3054T=
n.3262T=
c.2471T= (p.Phe824=)
c.1496T= (p.Phe499=)
c.2210T= (p.Phe737=)
c.3188T= (p.Phe1063=)
n.3006T=
n.3214T=
1g.197434917T>ACA344045027CRB1c.3054T>A (p.Phe1018Leu)
c.1935T>A (p.Phe645Leu)
c.1197T>A (p.Phe399Leu)
c.2718T>A (p.Phe906Leu)
c.2982T>A (p.Phe994Leu)
c.2129-683T>A (n.2129-683T>A)
n.3055T>A
n.3263T>A
c.2472T>A (p.Phe824Leu)
c.1497T>A (p.Phe499Leu)
c.2211T>A (p.Phe737Leu)
c.3189T>A (p.Phe1063Leu)
n.3007T>A
n.3215T>A
1g.197434917T>CCA35906890CRB1c.3054T>C (p.Phe1018=)
c.1935T>C (p.Phe645=)
c.1197T>C (p.Phe399=)
c.2718T>C (p.Phe906=)
c.2982T>C (p.Phe994=)
c.2129-683T>C (n.2129-683T>C)
n.3055T>C
n.3263T>C
c.2472T>C (p.Phe824=)
c.1497T>C (p.Phe499=)
c.2211T>C (p.Phe737=)
c.3189T>C (p.Phe1063=)
n.3007T>C
n.3215T>C
 ClinVar dbSNP gnomAD v4
1g.197434917T>GCA344045033CRB1c.3054T>G (p.Phe1018Leu)
c.1935T>G (p.Phe645Leu)
c.1197T>G (p.Phe399Leu)
c.2718T>G (p.Phe906Leu)
c.2982T>G (p.Phe994Leu)
c.2129-683T>G (n.2129-683T>G)
n.3055T>G
n.3263T>G
c.2472T>G (p.Phe824Leu)
c.1497T>G (p.Phe499Leu)
c.2211T>G (p.Phe737Leu)
c.3189T>G (p.Phe1063Leu)
n.3007T>G
n.3215T>G
1g.197434917T=CA1218068716CRB1c.3054T= (p.Phe1018=)
c.1935T= (p.Phe645=)
c.1197T= (p.Phe399=)
c.2718T= (p.Phe906=)
c.2982T= (p.Phe994=)
c.2129-683T= (n.2129-683T=)
n.3055T=
n.3263T=
c.2472T= (p.Phe824=)
c.1497T= (p.Phe499=)
c.2211T= (p.Phe737=)
c.3189T= (p.Phe1063=)
n.3007T=
n.3215T=
1g.197434918_197434922dupCA2586967864CRB1c.3055_3059dup (p.Met1020IlefsTer4)
c.1936_1940dup (p.Met647IlefsTer4)
c.1198_1202dup (p.Met401IlefsTer4)
c.2719_2723dup (p.Met908IlefsTer4)
c.2983_2987dup (p.Met996IlefsTer4)
c.2129-682_2129-678dup (n.2129-682_2129-678dup)
n.3056_3060dup
n.3264_3268dup
c.2473_2477dup (p.Met826IlefsTer4)
c.1498_1502dup (p.Met501IlefsTer4)
c.2212_2216dup (p.Met739IlefsTer4)
c.3190_3194dup (p.Met1065IlefsTer4)
n.3008_3012dup
n.3216_3220dup
 ClinVar
1g.197434918T>ACA344045037CRB1c.3055T>A (p.Tyr1019Asn)
c.1936T>A (p.Tyr646Asn)
c.1198T>A (p.Tyr400Asn)
c.2719T>A (p.Tyr907Asn)
c.2983T>A (p.Tyr995Asn)
c.2129-682T>A (n.2129-682T>A)
n.3056T>A
n.3264T>A
c.2473T>A (p.Tyr825Asn)
c.1498T>A (p.Tyr500Asn)
c.2212T>A (p.Tyr738Asn)
c.3190T>A (p.Tyr1064Asn)
n.3008T>A
n.3216T>A
1g.197434918T>CCA344045036CRB1c.3055T>C (p.Tyr1019His)
c.1936T>C (p.Tyr646His)
c.1198T>C (p.Tyr400His)
c.2719T>C (p.Tyr907His)
c.2983T>C (p.Tyr995His)
c.2129-682T>C (n.2129-682T>C)
n.3056T>C
n.3264T>C
c.2473T>C (p.Tyr825His)
c.1498T>C (p.Tyr500His)
c.2212T>C (p.Tyr738His)
c.3190T>C (p.Tyr1064His)
n.3008T>C
n.3216T>C
1g.197434918T>GCA344045035CRB1c.3055T>G (p.Tyr1019Asp)
c.1936T>G (p.Tyr646Asp)
c.1198T>G (p.Tyr400Asp)
c.2719T>G (p.Tyr907Asp)
c.2983T>G (p.Tyr995Asp)
c.2129-682T>G (n.2129-682T>G)
n.3056T>G
n.3264T>G
c.2473T>G (p.Tyr825Asp)
c.1498T>G (p.Tyr500Asp)
c.2212T>G (p.Tyr738Asp)
c.3190T>G (p.Tyr1064Asp)
n.3008T>G
n.3216T>G
1g.197434919A=CA1218068717CRB1c.3056A= (p.Tyr1019=)
c.1937A= (p.Tyr646=)
c.1199A= (p.Tyr400=)
c.2720A= (p.Tyr907=)
c.2984A= (p.Tyr995=)
c.2129-681A= (n.2129-681A=)
n.3057A=
n.3265A=
c.2474A= (p.Tyr825=)
c.1499A= (p.Tyr500=)
c.2213A= (p.Tyr738=)
c.3191A= (p.Tyr1064=)
n.3009A=
n.3217A=
1g.197434919A>CCA344045038CRB1c.3056A>C (p.Tyr1019Ser)
c.1937A>C (p.Tyr646Ser)
c.1199A>C (p.Tyr400Ser)
c.2720A>C (p.Tyr907Ser)
c.2984A>C (p.Tyr995Ser)
c.2129-681A>C (n.2129-681A>C)
n.3057A>C
n.3265A>C
c.2474A>C (p.Tyr825Ser)
c.1499A>C (p.Tyr500Ser)
c.2213A>C (p.Tyr738Ser)
c.3191A>C (p.Tyr1064Ser)
n.3009A>C
n.3217A>C
1g.197434919A>GCA344045044CRB1c.3056A>G (p.Tyr1019Cys)
c.1937A>G (p.Tyr646Cys)
c.1199A>G (p.Tyr400Cys)
c.2720A>G (p.Tyr907Cys)
c.2984A>G (p.Tyr995Cys)
c.2129-681A>G (n.2129-681A>G)
n.3057A>G
n.3265A>G
c.2474A>G (p.Tyr825Cys)
c.1499A>G (p.Tyr500Cys)
c.2213A>G (p.Tyr738Cys)
c.3191A>G (p.Tyr1064Cys)
n.3009A>G
n.3217A>G
1g.197434919A>TCA344045040CRB1c.3056A>T (p.Tyr1019Phe)
c.1937A>T (p.Tyr646Phe)
c.1199A>T (p.Tyr400Phe)
c.2720A>T (p.Tyr907Phe)
c.2984A>T (p.Tyr995Phe)
c.2129-681A>T (n.2129-681A>T)
n.3057A>T
n.3265A>T
c.2474A>T (p.Tyr825Phe)
c.1499A>T (p.Tyr500Phe)
c.2213A>T (p.Tyr738Phe)
c.3191A>T (p.Tyr1064Phe)
n.3009A>T
n.3217A>T
 dbSNP
1g.197434920T>ACA344045048CRB1c.3057T>A (p.Tyr1019Ter)
c.1938T>A (p.Tyr646Ter)
c.1200T>A (p.Tyr400Ter)
c.2721T>A (p.Tyr907Ter)
c.2985T>A (p.Tyr995Ter)
c.2129-680T>A (n.2129-680T>A)
n.3058T>A
n.3266T>A
c.2475T>A (p.Tyr825Ter)
c.1500T>A (p.Tyr500Ter)
c.2214T>A (p.Tyr738Ter)
c.3192T>A (p.Tyr1064Ter)
n.3010T>A
n.3218T>A
 gnomAD v4
1g.197434920T>CCA422808736CRB1c.3057T>C (p.Tyr1019=)
c.1938T>C (p.Tyr646=)
c.1200T>C (p.Tyr400=)
c.2721T>C (p.Tyr907=)
c.2985T>C (p.Tyr995=)
c.2129-680T>C (n.2129-680T>C)
n.3058T>C
n.3266T>C
c.2475T>C (p.Tyr825=)
c.1500T>C (p.Tyr500=)
c.2214T>C (p.Tyr738=)
c.3192T>C (p.Tyr1064=)
n.3010T>C
n.3218T>C
 gnomAD v4
1g.197434920T>GCA344045051CRB1c.3057T>G (p.Tyr1019Ter)
c.1938T>G (p.Tyr646Ter)
c.1200T>G (p.Tyr400Ter)
c.2721T>G (p.Tyr907Ter)
c.2985T>G (p.Tyr995Ter)
c.2129-680T>G (n.2129-680T>G)
n.3058T>G
n.3266T>G
c.2475T>G (p.Tyr825Ter)
c.1500T>G (p.Tyr500Ter)
c.2214T>G (p.Tyr738Ter)
c.3192T>G (p.Tyr1064Ter)
n.3010T>G
n.3218T>G
1g.197434921A=CA1144215017CRB1c.3058A= (p.Met1020=)
c.1939A= (p.Met647=)
c.1201A= (p.Met401=)
c.2722A= (p.Met908=)
c.2986A= (p.Met996=)
c.2129-679A= (n.2129-679A=)
n.3059A=
n.3267A=
c.2476A= (p.Met826=)
c.1501A= (p.Met501=)
c.2215A= (p.Met739=)
c.3193A= (p.Met1065=)
n.3011A=
n.3219A=
1g.197434921A>CCA344045061CRB1c.3058A>C (p.Met1020Leu)
c.1939A>C (p.Met647Leu)
c.1201A>C (p.Met401Leu)
c.2722A>C (p.Met908Leu)
c.2986A>C (p.Met996Leu)
c.2129-679A>C (n.2129-679A>C)
n.3059A>C
n.3267A>C
c.2476A>C (p.Met826Leu)
c.1501A>C (p.Met501Leu)
c.2215A>C (p.Met739Leu)
c.3193A>C (p.Met1065Leu)
n.3011A>C
n.3219A>C
1g.197434921A>GCA1312267CRB1c.3058A>G (p.Met1020Val)
c.1939A>G (p.Met647Val)
c.1201A>G (p.Met401Val)
c.2722A>G (p.Met908Val)
c.2986A>G (p.Met996Val)
c.2129-679A>G (n.2129-679A>G)
n.3059A>G
n.3267A>G
c.2476A>G (p.Met826Val)
c.1501A>G (p.Met501Val)
c.2215A>G (p.Met739Val)
c.3193A>G (p.Met1065Val)
n.3011A>G
n.3219A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434921A>TCA344045065CRB1c.3058A>T (p.Met1020Leu)
c.1939A>T (p.Met647Leu)
c.1201A>T (p.Met401Leu)
c.2722A>T (p.Met908Leu)
c.2986A>T (p.Met996Leu)
c.2129-679A>T (n.2129-679A>T)
n.3059A>T
n.3267A>T
c.2476A>T (p.Met826Leu)
c.1501A>T (p.Met501Leu)
c.2215A>T (p.Met739Leu)
c.3193A>T (p.Met1065Leu)
n.3011A>T
n.3219A>T
1g.197434922delCA2586967865CRB1c.3059del (p.Met1020SerfsTer2)
c.1940del (p.Met647SerfsTer2)
c.1202del (p.Met401SerfsTer2)
c.2723del (p.Met908SerfsTer2)
c.2987del (p.Met996SerfsTer2)
c.2129-678del (n.2129-678del)
n.3060del
n.3268del
c.2477del (p.Met826SerfsTer2)
c.1502del (p.Met501SerfsTer2)
c.2216del (p.Met739SerfsTer2)
c.3194del (p.Met1065SerfsTer2)
n.3012del
n.3220del
1g.197434922T>ACA344045072CRB1c.3059T>A (p.Met1020Lys)
c.1940T>A (p.Met647Lys)
c.1202T>A (p.Met401Lys)
c.2723T>A (p.Met908Lys)
c.2987T>A (p.Met996Lys)
c.2129-678T>A (n.2129-678T>A)
n.3060T>A
n.3268T>A
c.2477T>A (p.Met826Lys)
c.1502T>A (p.Met501Lys)
c.2216T>A (p.Met739Lys)
c.3194T>A (p.Met1065Lys)
n.3012T>A
n.3220T>A
 gnomAD v4
1g.197434922T>CCA1312268CRB1c.3059T>C (p.Met1020Thr)
c.1940T>C (p.Met647Thr)
c.1202T>C (p.Met401Thr)
c.2723T>C (p.Met908Thr)
c.2987T>C (p.Met996Thr)
c.2129-678T>C (n.2129-678T>C)
n.3060T>C
n.3268T>C
c.2477T>C (p.Met826Thr)
c.1502T>C (p.Met501Thr)
c.2216T>C (p.Met739Thr)
c.3194T>C (p.Met1065Thr)
n.3012T>C
n.3220T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434922T>GCA344045081CRB1c.3059T>G (p.Met1020Arg)
c.1940T>G (p.Met647Arg)
c.1202T>G (p.Met401Arg)
c.2723T>G (p.Met908Arg)
c.2987T>G (p.Met996Arg)
c.2129-678T>G (n.2129-678T>G)
n.3060T>G
n.3268T>G
c.2477T>G (p.Met826Arg)
c.1502T>G (p.Met501Arg)
c.2216T>G (p.Met739Arg)
c.3194T>G (p.Met1065Arg)
n.3012T>G
n.3220T>G
1g.197434922T=CA1218068718CRB1c.3059T= (p.Met1020=)
c.1940T= (p.Met647=)
c.1202T= (p.Met401=)
c.2723T= (p.Met908=)
c.2987T= (p.Met996=)
c.2129-678T= (n.2129-678T=)
n.3060T=
n.3268T=
c.2477T= (p.Met826=)
c.1502T= (p.Met501=)
c.2216T= (p.Met739=)
c.3194T= (p.Met1065=)
n.3012T=
n.3220T=
1g.197434923G>ACA344045100CRB1c.3060G>A (p.Met1020Ile)
c.1941G>A (p.Met647Ile)
c.1203G>A (p.Met401Ile)
c.2724G>A (p.Met908Ile)
c.2988G>A (p.Met996Ile)
c.2129-677G>A (n.2129-677G>A)
n.3061G>A
n.3269G>A
c.2478G>A (p.Met826Ile)
c.1503G>A (p.Met501Ile)
c.2217G>A (p.Met739Ile)
c.3195G>A (p.Met1065Ile)
n.3013G>A
n.3221G>A
1g.197434923G>CCA344045105CRB1c.3060G>C (p.Met1020Ile)
c.1941G>C (p.Met647Ile)
c.1203G>C (p.Met401Ile)
c.2724G>C (p.Met908Ile)
c.2988G>C (p.Met996Ile)
c.2129-677G>C (n.2129-677G>C)
n.3061G>C
n.3269G>C
c.2478G>C (p.Met826Ile)
c.1503G>C (p.Met501Ile)
c.2217G>C (p.Met739Ile)
c.3195G>C (p.Met1065Ile)
n.3013G>C
n.3221G>C
1g.197434923G>TCA344045107CRB1c.3060G>T (p.Met1020Ile)
c.1941G>T (p.Met647Ile)
c.1203G>T (p.Met401Ile)
c.2724G>T (p.Met908Ile)
c.2988G>T (p.Met996Ile)
c.2129-677G>T (n.2129-677G>T)
n.3061G>T
n.3269G>T
c.2478G>T (p.Met826Ile)
c.1503G>T (p.Met501Ile)
c.2217G>T (p.Met739Ile)
c.3195G>T (p.Met1065Ile)
n.3013G>T
n.3221G>T
1g.197434924C>ACA344045109CRB1c.3061C>A (p.Leu1021Ile)
c.1942C>A (p.Leu648Ile)
c.1204C>A (p.Leu402Ile)
c.2725C>A (p.Leu909Ile)
c.2989C>A (p.Leu997Ile)
c.2129-676C>A (n.2129-676C>A)
n.3062C>A
n.3270C>A
c.2479C>A (p.Leu827Ile)
c.1504C>A (p.Leu502Ile)
c.2218C>A (p.Leu740Ile)
c.3196C>A (p.Leu1066Ile)
n.3014C>A
n.3222C>A
1g.197434924C>GCA344045111CRB1c.3061C>G (p.Leu1021Val)
c.1942C>G (p.Leu648Val)
c.1204C>G (p.Leu402Val)
c.2725C>G (p.Leu909Val)
c.2989C>G (p.Leu997Val)
c.2129-676C>G (n.2129-676C>G)
n.3062C>G
n.3270C>G
c.2479C>G (p.Leu827Val)
c.1504C>G (p.Leu502Val)
c.2218C>G (p.Leu740Val)
c.3196C>G (p.Leu1066Val)
n.3014C>G
n.3222C>G
1g.197434924C>TCA422808743CRB1c.3061C>T (p.Leu1021=)
c.1942C>T (p.Leu648=)
c.1204C>T (p.Leu402=)
c.2725C>T (p.Leu909=)
c.2989C>T (p.Leu997=)
c.2129-676C>T (n.2129-676C>T)
n.3062C>T
n.3270C>T
c.2479C>T (p.Leu827=)
c.1504C>T (p.Leu502=)
c.2218C>T (p.Leu740=)
c.3196C>T (p.Leu1066=)
n.3014C>T
n.3222C>T
 dbSNP
1g.197434925T>ACA344045122CRB1c.3062T>A (p.Leu1021Gln)
c.1943T>A (p.Leu648Gln)
c.1205T>A (p.Leu402Gln)
c.2726T>A (p.Leu909Gln)
c.2990T>A (p.Leu997Gln)
c.2129-675T>A (n.2129-675T>A)
n.3063T>A
n.3271T>A
c.2480T>A (p.Leu827Gln)
c.1505T>A (p.Leu502Gln)
c.2219T>A (p.Leu740Gln)
c.3197T>A (p.Leu1066Gln)
n.3015T>A
n.3223T>A
1g.197434925T>CCA344045114CRB1c.3062T>C (p.Leu1021Pro)
c.1943T>C (p.Leu648Pro)
c.1205T>C (p.Leu402Pro)
c.2726T>C (p.Leu909Pro)
c.2990T>C (p.Leu997Pro)
c.2129-675T>C (n.2129-675T>C)
n.3063T>C
n.3271T>C
c.2480T>C (p.Leu827Pro)
c.1505T>C (p.Leu502Pro)
c.2219T>C (p.Leu740Pro)
c.3197T>C (p.Leu1066Pro)
n.3015T>C
n.3223T>C
 ClinVar dbSNP
1g.197434925T>GCA344045118CRB1c.3062T>G (p.Leu1021Arg)
c.1943T>G (p.Leu648Arg)
c.1205T>G (p.Leu402Arg)
c.2726T>G (p.Leu909Arg)
c.2990T>G (p.Leu997Arg)
c.2129-675T>G (n.2129-675T>G)
n.3063T>G
n.3271T>G
c.2480T>G (p.Leu827Arg)
c.1505T>G (p.Leu502Arg)
c.2219T>G (p.Leu740Arg)
c.3197T>G (p.Leu1066Arg)
n.3015T>G
n.3223T>G
1g.197434925T=CA1218068719CRB1c.3062T= (p.Leu1021=)
c.1943T= (p.Leu648=)
c.1205T= (p.Leu402=)
c.2726T= (p.Leu909=)
c.2990T= (p.Leu997=)
c.2129-675T= (n.2129-675T=)
n.3063T=
n.3271T=
c.2480T= (p.Leu827=)
c.1505T= (p.Leu502=)
c.2219T= (p.Leu740=)
c.3197T= (p.Leu1066=)
n.3015T=
n.3223T=
1g.197434925_197434927delinsTAACA1218068720CRB1c.3062_3064delinsTAA (p.Leu1021=)
c.1943_1945delinsTAA (p.Leu648=)
c.1205_1207delinsTAA (p.Leu402=)
c.2726_2728delinsTAA (p.Leu909=)
c.2990_2992delinsTAA (p.Leu997=)
c.2129-675_2129-673delinsTAA (n.2129-675_2129-673delinsTAA)
n.3063_3065delinsTAA
n.3271_3273delinsTAA
c.2480_2482delinsTAA (p.Leu827=)
c.1505_1507delinsTAA (p.Leu502=)
c.2219_2221delinsTAA (p.Leu740=)
c.3197_3199delinsTAA (p.Leu1066=)
n.3015_3017delinsTAA
n.3223_3225delinsTAA
1g.197434926A>CCA422808744CRB1c.3063A>C (p.Leu1021=)
c.1944A>C (p.Leu648=)
c.1206A>C (p.Leu402=)
c.2727A>C (p.Leu909=)
c.2991A>C (p.Leu997=)
c.2129-674A>C (n.2129-674A>C)
n.3064A>C
n.3272A>C
c.2481A>C (p.Leu827=)
c.1506A>C (p.Leu502=)
c.2220A>C (p.Leu740=)
c.3198A>C (p.Leu1066=)
n.3016A>C
n.3224A>C
1g.197434926A>GCA422808745CRB1c.3063A>G (p.Leu1021=)
c.1944A>G (p.Leu648=)
c.1206A>G (p.Leu402=)
c.2727A>G (p.Leu909=)
c.2991A>G (p.Leu997=)
c.2129-674A>G (n.2129-674A>G)
n.3064A>G
n.3272A>G
c.2481A>G (p.Leu827=)
c.1506A>G (p.Leu502=)
c.2220A>G (p.Leu740=)
c.3198A>G (p.Leu1066=)
n.3016A>G
n.3224A>G
 gnomAD v4
1g.197434926A>TCA422808746CRB1c.3063A>T (p.Leu1021=)
c.1944A>T (p.Leu648=)
c.1206A>T (p.Leu402=)
c.2727A>T (p.Leu909=)
c.2991A>T (p.Leu997=)
c.2129-674A>T (n.2129-674A>T)
n.3064A>T
n.3272A>T
c.2481A>T (p.Leu827=)
c.1506A>T (p.Leu502=)
c.2220A>T (p.Leu740=)
c.3198A>T (p.Leu1066=)
n.3016A>T
n.3224A>T
1g.197434926_197434927delCA1218068721CRB1c.3063_3064del (p.Leu1023AspfsTer8)
c.1944_1945del (p.Leu650AspfsTer8)
c.1206_1207del (p.Leu404AspfsTer8)
c.2727_2728del (p.Leu911AspfsTer8)
c.2991_2992del (p.Leu999AspfsTer8)
c.2129-674_2129-673del (n.2129-674_2129-673del)
n.3064_3065del
n.3272_3273del
c.2481_2482del (p.Leu829AspfsTer8)
c.1506_1507del (p.Leu504AspfsTer8)
c.2220_2221del (p.Leu742AspfsTer8)
c.3198_3199del (p.Leu1068AspfsTer8)
n.3016_3017del
n.3224_3225del
 dbSNP
1g.197434927A=CA1218068722CRB1c.3064A= (p.Ser1022=)
c.1945A= (p.Ser649=)
c.1207A= (p.Ser403=)
c.2728A= (p.Ser910=)
c.2992A= (p.Ser998=)
c.2129-673A= (n.2129-673A=)
n.3065A=
n.3273A=
c.2482A= (p.Ser828=)
c.1507A= (p.Ser503=)
c.2221A= (p.Ser741=)
c.3199A= (p.Ser1067=)
n.3017A=
n.3225A=
1g.197434927A>CCA344045130CRB1c.3064A>C (p.Ser1022Arg)
c.1945A>C (p.Ser649Arg)
c.1207A>C (p.Ser403Arg)
c.2728A>C (p.Ser910Arg)
c.2992A>C (p.Ser998Arg)
c.2129-673A>C (n.2129-673A>C)
n.3065A>C
n.3273A>C
c.2482A>C (p.Ser828Arg)
c.1507A>C (p.Ser503Arg)
c.2221A>C (p.Ser741Arg)
c.3199A>C (p.Ser1067Arg)
n.3017A>C
n.3225A>C
 COSMIC COSMIC
1g.197434927A>GCA344045133CRB1c.3064A>G (p.Ser1022Gly)
c.1945A>G (p.Ser649Gly)
c.1207A>G (p.Ser403Gly)
c.2728A>G (p.Ser910Gly)
c.2992A>G (p.Ser998Gly)
c.2129-673A>G (n.2129-673A>G)
n.3065A>G
n.3273A>G
c.2482A>G (p.Ser828Gly)
c.1507A>G (p.Ser503Gly)
c.2221A>G (p.Ser741Gly)
c.3199A>G (p.Ser1067Gly)
n.3017A>G
n.3225A>G
1g.197434927A>TCA35906928CRB1c.3064A>T (p.Ser1022Cys)
c.1945A>T (p.Ser649Cys)
c.1207A>T (p.Ser403Cys)
c.2728A>T (p.Ser910Cys)
c.2992A>T (p.Ser998Cys)
c.2129-673A>T (n.2129-673A>T)
n.3065A>T
n.3273A>T
c.2482A>T (p.Ser828Cys)
c.1507A>T (p.Ser503Cys)
c.2221A>T (p.Ser741Cys)
c.3199A>T (p.Ser1067Cys)
n.3017A>T
n.3225A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197434928G>ACA344045141CRB1c.3065G>A (p.Ser1022Asn)
c.1946G>A (p.Ser649Asn)
c.1208G>A (p.Ser403Asn)
c.2729G>A (p.Ser910Asn)
c.2993G>A (p.Ser998Asn)
c.2129-672G>A (n.2129-672G>A)
n.3066G>A
n.3274G>A
c.2483G>A (p.Ser828Asn)
c.1508G>A (p.Ser503Asn)
c.2222G>A (p.Ser741Asn)
c.3200G>A (p.Ser1067Asn)
n.3018G>A
n.3226G>A
1g.197434928G>CCA344045174CRB1c.3065G>C (p.Ser1022Thr)
c.1946G>C (p.Ser649Thr)
c.1208G>C (p.Ser403Thr)
c.2729G>C (p.Ser910Thr)
c.2993G>C (p.Ser998Thr)
c.2129-672G>C (n.2129-672G>C)
n.3066G>C
n.3274G>C
c.2483G>C (p.Ser828Thr)
c.1508G>C (p.Ser503Thr)
c.2222G>C (p.Ser741Thr)
c.3200G>C (p.Ser1067Thr)
n.3018G>C
n.3226G>C
1g.197434928G>TCA344045179CRB1c.3065G>T (p.Ser1022Ile)
c.1946G>T (p.Ser649Ile)
c.1208G>T (p.Ser403Ile)
c.2729G>T (p.Ser910Ile)
c.2993G>T (p.Ser998Ile)
c.2129-672G>T (n.2129-672G>T)
n.3066G>T
n.3274G>T
c.2483G>T (p.Ser828Ile)
c.1508G>T (p.Ser503Ile)
c.2222G>T (p.Ser741Ile)
c.3200G>T (p.Ser1067Ile)
n.3018G>T
n.3226G>T
1g.197434929T>ACA344045182CRB1c.3066T>A (p.Ser1022Arg)
c.1947T>A (p.Ser649Arg)
c.1209T>A (p.Ser403Arg)
c.2730T>A (p.Ser910Arg)
c.2994T>A (p.Ser998Arg)
c.2129-671T>A (n.2129-671T>A)
n.3067T>A
n.3275T>A
c.2484T>A (p.Ser828Arg)
c.1509T>A (p.Ser503Arg)
c.2223T>A (p.Ser741Arg)
c.3201T>A (p.Ser1067Arg)
n.3019T>A
n.3227T>A
1g.197434929T>CCA422808749CRB1c.3066T>C (p.Ser1022=)
c.1947T>C (p.Ser649=)
c.1209T>C (p.Ser403=)
c.2730T>C (p.Ser910=)
c.2994T>C (p.Ser998=)
c.2129-671T>C (n.2129-671T>C)
n.3067T>C
n.3275T>C
c.2484T>C (p.Ser828=)
c.1509T>C (p.Ser503=)
c.2223T>C (p.Ser741=)
c.3201T>C (p.Ser1067=)
n.3019T>C
n.3227T>C
 gnomAD v4
1g.197434929T>GCA344045185CRB1c.3066T>G (p.Ser1022Arg)
c.1947T>G (p.Ser649Arg)
c.1209T>G (p.Ser403Arg)
c.2730T>G (p.Ser910Arg)
c.2994T>G (p.Ser998Arg)
c.2129-671T>G (n.2129-671T>G)
n.3067T>G
n.3275T>G
c.2484T>G (p.Ser828Arg)
c.1509T>G (p.Ser503Arg)
c.2223T>G (p.Ser741Arg)
c.3201T>G (p.Ser1067Arg)
n.3019T>G
n.3227T>G
 gnomAD v4
1g.197434930C>ACA344045186CRB1c.3067C>A (p.Leu1023Met)
c.1948C>A (p.Leu650Met)
c.1210C>A (p.Leu404Met)
c.2731C>A (p.Leu911Met)
c.2995C>A (p.Leu999Met)
c.2129-670C>A (n.2129-670C>A)
n.3068C>A
n.3276C>A
c.2485C>A (p.Leu829Met)
c.1510C>A (p.Leu504Met)
c.2224C>A (p.Leu742Met)
c.3202C>A (p.Leu1068Met)
n.3020C>A
n.3228C>A
1g.197434930C=CA1218068723CRB1c.3067C= (p.Leu1023=)
c.1948C= (p.Leu650=)
c.1210C= (p.Leu404=)
c.2731C= (p.Leu911=)
c.2995C= (p.Leu999=)
c.2129-670C= (n.2129-670C=)
n.3068C=
n.3276C=
c.2485C= (p.Leu829=)
c.1510C= (p.Leu504=)
c.2224C= (p.Leu742=)
c.3202C= (p.Leu1068=)
n.3020C=
n.3228C=
1g.197434930C>GCA344045187CRB1c.3067C>G (p.Leu1023Val)
c.1948C>G (p.Leu650Val)
c.1210C>G (p.Leu404Val)
c.2731C>G (p.Leu911Val)
c.2995C>G (p.Leu999Val)
c.2129-670C>G (n.2129-670C>G)
n.3068C>G
n.3276C>G
c.2485C>G (p.Leu829Val)
c.1510C>G (p.Leu504Val)
c.2224C>G (p.Leu742Val)
c.3202C>G (p.Leu1068Val)
n.3020C>G
n.3228C>G
 dbSNP
1g.197434930C>TCA422808750CRB1c.3067C>T (p.Leu1023=)
c.1948C>T (p.Leu650=)
c.1210C>T (p.Leu404=)
c.2731C>T (p.Leu911=)
c.2995C>T (p.Leu999=)
c.2129-670C>T (n.2129-670C>T)
n.3068C>T
n.3276C>T
c.2485C>T (p.Leu829=)
c.1510C>T (p.Leu504=)
c.2224C>T (p.Leu742=)
c.3202C>T (p.Leu1068=)
n.3020C>T
n.3228C>T
 COSMIC COSMIC
1g.197434931T>ACA344045190CRB1c.3068T>A (p.Leu1023Gln)
c.1949T>A (p.Leu650Gln)
c.1211T>A (p.Leu404Gln)
c.2732T>A (p.Leu911Gln)
c.2996T>A (p.Leu999Gln)
c.2129-669T>A (n.2129-669T>A)
n.3069T>A
n.3277T>A
c.2486T>A (p.Leu829Gln)
c.1511T>A (p.Leu504Gln)
c.2225T>A (p.Leu742Gln)
c.3203T>A (p.Leu1068Gln)
n.3021T>A
n.3229T>A
1g.197434931T>CCA344045194CRB1c.3068T>C (p.Leu1023Pro)
c.1949T>C (p.Leu650Pro)
c.1211T>C (p.Leu404Pro)
c.2732T>C (p.Leu911Pro)
c.2996T>C (p.Leu999Pro)
c.2129-669T>C (n.2129-669T>C)
n.3069T>C
n.3277T>C
c.2486T>C (p.Leu829Pro)
c.1511T>C (p.Leu504Pro)
c.2225T>C (p.Leu742Pro)
c.3203T>C (p.Leu1068Pro)
n.3021T>C
n.3229T>C
1g.197434931T>GCA344045188CRB1c.3068T>G (p.Leu1023Arg)
c.1949T>G (p.Leu650Arg)
c.1211T>G (p.Leu404Arg)
c.2732T>G (p.Leu911Arg)
c.2996T>G (p.Leu999Arg)
c.2129-669T>G (n.2129-669T>G)
n.3069T>G
n.3277T>G
c.2486T>G (p.Leu829Arg)
c.1511T>G (p.Leu504Arg)
c.2225T>G (p.Leu742Arg)
c.3203T>G (p.Leu1068Arg)
n.3021T>G
n.3229T>G
 ClinVar dbSNP gnomAD v4
1g.197434931T=CA1218068724CRB1c.3068T= (p.Leu1023=)
c.1949T= (p.Leu650=)
c.1211T= (p.Leu404=)
c.2732T= (p.Leu911=)
c.2996T= (p.Leu999=)
c.2129-669T= (n.2129-669T=)
n.3069T=
n.3277T=
c.2486T= (p.Leu829=)
c.1511T= (p.Leu504=)
c.2225T= (p.Leu742=)
c.3203T= (p.Leu1068=)
n.3021T=
n.3229T=
1g.197434932delCA2649670639CRB1c.3069del (p.Thr1024GlnfsTer6)
c.1950del (p.Thr651GlnfsTer6)
c.1212del (p.Thr405GlnfsTer6)
c.2733del (p.Thr912GlnfsTer6)
c.2997del (p.Thr1000GlnfsTer6)
c.2129-668del (n.2129-668del)
n.3070del
n.3278del
c.2487del (p.Thr830GlnfsTer6)
c.1512del (p.Thr505GlnfsTer6)
c.2226del (p.Thr743GlnfsTer6)
c.3204del (p.Thr1069GlnfsTer6)
n.3022del
n.3230del
 gnomAD v4
1g.197434932G>ACA35906929CRB1c.3069G>A (p.Leu1023=)
c.1950G>A (p.Leu650=)
c.1212G>A (p.Leu404=)
c.2733G>A (p.Leu911=)
c.2997G>A (p.Leu999=)
c.2129-668G>A (n.2129-668G>A)
n.3070G>A
n.3278G>A
c.2487G>A (p.Leu829=)
c.1512G>A (p.Leu504=)
c.2226G>A (p.Leu742=)
c.3204G>A (p.Leu1068=)
n.3022G>A
n.3230G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197434932G>CCA422808753CRB1c.3069G>C (p.Leu1023=)
c.1950G>C (p.Leu650=)
c.1212G>C (p.Leu404=)
c.2733G>C (p.Leu911=)
c.2997G>C (p.Leu999=)
c.2129-668G>C (n.2129-668G>C)
n.3070G>C
n.3278G>C
c.2487G>C (p.Leu829=)
c.1512G>C (p.Leu504=)
c.2226G>C (p.Leu742=)
c.3204G>C (p.Leu1068=)
n.3022G>C
n.3230G>C
1g.197434932G=CA1143515758CRB1c.3069G= (p.Leu1023=)
c.1950G= (p.Leu650=)
c.1212G= (p.Leu404=)
c.2733G= (p.Leu911=)
c.2997G= (p.Leu999=)
c.2129-668G= (n.2129-668G=)
n.3070G=
n.3278G=
c.2487G= (p.Leu829=)
c.1512G= (p.Leu504=)
c.2226G= (p.Leu742=)
c.3204G= (p.Leu1068=)
n.3022G=
n.3230G=
1g.197434932G>TCA422808755CRB1c.3069G>T (p.Leu1023=)
c.1950G>T (p.Leu650=)
c.1212G>T (p.Leu404=)
c.2733G>T (p.Leu911=)
c.2997G>T (p.Leu999=)
c.2129-668G>T (n.2129-668G>T)
n.3070G>T
n.3278G>T
c.2487G>T (p.Leu829=)
c.1512G>T (p.Leu504=)
c.2226G>T (p.Leu742=)
c.3204G>T (p.Leu1068=)
n.3022G>T
n.3230G>T
1g.197434933delCA2573051458CRB1c.3070del (p.Thr1024GlnfsTer6)
c.1951del (p.Thr651GlnfsTer6)
c.1213del (p.Thr405GlnfsTer6)
c.2734del (p.Thr912GlnfsTer6)
c.2998del (p.Thr1000GlnfsTer6)
c.2129-667del (n.2129-667del)
n.3071del
n.3279del
c.2488del (p.Thr830GlnfsTer6)
c.1513del (p.Thr505GlnfsTer6)
c.2227del (p.Thr743GlnfsTer6)
c.3205del (p.Thr1069GlnfsTer6)
n.3023del
n.3231del
 ClinVar dbSNP
1g.197434933A>CCA344045198CRB1c.3070A>C (p.Thr1024Pro)
c.1951A>C (p.Thr651Pro)
c.1213A>C (p.Thr405Pro)
c.2734A>C (p.Thr912Pro)
c.2998A>C (p.Thr1000Pro)
c.2129-667A>C (n.2129-667A>C)
n.3071A>C
n.3279A>C
c.2488A>C (p.Thr830Pro)
c.1513A>C (p.Thr505Pro)
c.2227A>C (p.Thr743Pro)
c.3205A>C (p.Thr1069Pro)
n.3023A>C
n.3231A>C
1g.197434933A>GCA344045199CRB1c.3070A>G (p.Thr1024Ala)
c.1951A>G (p.Thr651Ala)
c.1213A>G (p.Thr405Ala)
c.2734A>G (p.Thr912Ala)
c.2998A>G (p.Thr1000Ala)
c.2129-667A>G (n.2129-667A>G)
n.3071A>G
n.3279A>G
c.2488A>G (p.Thr830Ala)
c.1513A>G (p.Thr505Ala)
c.2227A>G (p.Thr743Ala)
c.3205A>G (p.Thr1069Ala)
n.3023A>G
n.3231A>G
1g.197434933A>TCA344045202CRB1c.3070A>T (p.Thr1024Ser)
c.1951A>T (p.Thr651Ser)
c.1213A>T (p.Thr405Ser)
c.2734A>T (p.Thr912Ser)
c.2998A>T (p.Thr1000Ser)
c.2129-667A>T (n.2129-667A>T)
n.3071A>T
n.3279A>T
c.2488A>T (p.Thr830Ser)
c.1513A>T (p.Thr505Ser)
c.2227A>T (p.Thr743Ser)
c.3205A>T (p.Thr1069Ser)
n.3023A>T
n.3231A>T
1g.197434934C>ACA344045206CRB1c.3071C>A (p.Thr1024Lys)
c.1952C>A (p.Thr651Lys)
c.1214C>A (p.Thr405Lys)
c.2735C>A (p.Thr912Lys)
c.2999C>A (p.Thr1000Lys)
c.2129-666C>A (n.2129-666C>A)
n.3072C>A
n.3280C>A
c.2489C>A (p.Thr830Lys)
c.1514C>A (p.Thr505Lys)
c.2228C>A (p.Thr743Lys)
c.3206C>A (p.Thr1069Lys)
n.3024C>A
n.3232C>A
1g.197434934C>GCA344045208CRB1c.3071C>G (p.Thr1024Arg)
c.1952C>G (p.Thr651Arg)
c.1214C>G (p.Thr405Arg)
c.2735C>G (p.Thr912Arg)
c.2999C>G (p.Thr1000Arg)
c.2129-666C>G (n.2129-666C>G)
n.3072C>G
n.3280C>G
c.2489C>G (p.Thr830Arg)
c.1514C>G (p.Thr505Arg)
c.2228C>G (p.Thr743Arg)
c.3206C>G (p.Thr1069Arg)
n.3024C>G
n.3232C>G
1g.197434934C>TCA344045212CRB1c.3071C>T (p.Thr1024Ile)
c.1952C>T (p.Thr651Ile)
c.1214C>T (p.Thr405Ile)
c.2735C>T (p.Thr912Ile)
c.2999C>T (p.Thr1000Ile)
c.2129-666C>T (n.2129-666C>T)
n.3072C>T
n.3280C>T
c.2489C>T (p.Thr830Ile)
c.1514C>T (p.Thr505Ile)
c.2228C>T (p.Thr743Ile)
c.3206C>T (p.Thr1069Ile)
n.3024C>T
n.3232C>T
1g.197434935A>CCA422808757CRB1c.3072A>C (p.Thr1024=)
c.1953A>C (p.Thr651=)
c.1215A>C (p.Thr405=)
c.2736A>C (p.Thr912=)
c.3000A>C (p.Thr1000=)
c.2129-665A>C (n.2129-665A>C)
n.3073A>C
n.3281A>C
c.2490A>C (p.Thr830=)
c.1515A>C (p.Thr505=)
c.2229A>C (p.Thr743=)
c.3207A>C (p.Thr1069=)
n.3025A>C
n.3233A>C
1g.197434935A>GCA422808761CRB1c.3072A>G (p.Thr1024=)
c.1953A>G (p.Thr651=)
c.1215A>G (p.Thr405=)
c.2736A>G (p.Thr912=)
c.3000A>G (p.Thr1000=)
c.2129-665A>G (n.2129-665A>G)
n.3073A>G
n.3281A>G
c.2490A>G (p.Thr830=)
c.1515A>G (p.Thr505=)
c.2229A>G (p.Thr743=)
c.3207A>G (p.Thr1069=)
n.3025A>G
n.3233A>G
1g.197434935A>TCA422808759CRB1c.3072A>T (p.Thr1024=)
c.1953A>T (p.Thr651=)
c.1215A>T (p.Thr405=)
c.2736A>T (p.Thr912=)
c.3000A>T (p.Thr1000=)
c.2129-665A>T (n.2129-665A>T)
n.3073A>T
n.3281A>T
c.2490A>T (p.Thr830=)
c.1515A>T (p.Thr505=)
c.2229A>T (p.Thr743=)
c.3207A>T (p.Thr1069=)
n.3025A>T
n.3233A>T
1g.197434936A=CA1218068725CRB1c.3073A= (p.Ser1025=)
c.1954A= (p.Ser652=)
c.1216A= (p.Ser406=)
c.2737A= (p.Ser913=)
c.3001A= (p.Ser1001=)
c.2129-664A= (n.2129-664A=)
n.3074A=
n.3282A=
c.2491A= (p.Ser831=)
c.1516A= (p.Ser506=)
c.2230A= (p.Ser744=)
c.3208A= (p.Ser1070=)
n.3026A=
n.3234A=
1g.197434936A>CCA344045217CRB1c.3073A>C (p.Ser1025Arg)
c.1954A>C (p.Ser652Arg)
c.1216A>C (p.Ser406Arg)
c.2737A>C (p.Ser913Arg)
c.3001A>C (p.Ser1001Arg)
c.2129-664A>C (n.2129-664A>C)
n.3074A>C
n.3282A>C
c.2491A>C (p.Ser831Arg)
c.1516A>C (p.Ser506Arg)
c.2230A>C (p.Ser744Arg)
c.3208A>C (p.Ser1070Arg)
n.3026A>C
n.3234A>C
1g.197434936A>GCA1312269CRB1c.3073A>G (p.Ser1025Gly)
c.1954A>G (p.Ser652Gly)
c.1216A>G (p.Ser406Gly)
c.2737A>G (p.Ser913Gly)
c.3001A>G (p.Ser1001Gly)
c.2129-664A>G (n.2129-664A>G)
n.3074A>G
n.3282A>G
c.2491A>G (p.Ser831Gly)
c.1516A>G (p.Ser506Gly)
c.2230A>G (p.Ser744Gly)
c.3208A>G (p.Ser1070Gly)
n.3026A>G
n.3234A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434936A>TCA344045219CRB1c.3073A>T (p.Ser1025Cys)
c.1954A>T (p.Ser652Cys)
c.1216A>T (p.Ser406Cys)
c.2737A>T (p.Ser913Cys)
c.3001A>T (p.Ser1001Cys)
c.2129-664A>T (n.2129-664A>T)
n.3074A>T
n.3282A>T
c.2491A>T (p.Ser831Cys)
c.1516A>T (p.Ser506Cys)
c.2230A>T (p.Ser744Cys)
c.3208A>T (p.Ser1070Cys)
n.3026A>T
n.3234A>T
1g.197434937G>ACA344045220CRB1c.3074G>A (p.Ser1025Asn)
c.1955G>A (p.Ser652Asn)
c.1217G>A (p.Ser406Asn)
c.2738G>A (p.Ser913Asn)
c.3002G>A (p.Ser1001Asn)
c.2129-663G>A (n.2129-663G>A)
n.3075G>A
n.3283G>A
c.2492G>A (p.Ser831Asn)
c.1517G>A (p.Ser506Asn)
c.2231G>A (p.Ser744Asn)
c.3209G>A (p.Ser1070Asn)
n.3027G>A
n.3235G>A
 ClinVar dbSNP gnomAD v4
1g.197434937G>CCA344045223CRB1c.3074G>C (p.Ser1025Thr)
c.1955G>C (p.Ser652Thr)
c.1217G>C (p.Ser406Thr)
c.2738G>C (p.Ser913Thr)
c.3002G>C (p.Ser1001Thr)
c.2129-663G>C (n.2129-663G>C)
n.3075G>C
n.3283G>C
c.2492G>C (p.Ser831Thr)
c.1517G>C (p.Ser506Thr)
c.2231G>C (p.Ser744Thr)
c.3209G>C (p.Ser1070Thr)
n.3027G>C
n.3235G>C
1g.197434937G=CA1140762959CRB1c.3074G= (p.Ser1025=)
c.1955G= (p.Ser652=)
c.1217G= (p.Ser406=)
c.2738G= (p.Ser913=)
c.3002G= (p.Ser1001=)
c.2129-663G= (n.2129-663G=)
n.3075G=
n.3283G=
c.2492G= (p.Ser831=)
c.1517G= (p.Ser506=)
c.2231G= (p.Ser744=)
c.3209G= (p.Ser1070=)
n.3027G=
n.3235G=
1g.197434937G>TCA228030CRB1c.3074G>T (p.Ser1025Ile)
c.1955G>T (p.Ser652Ile)
c.1217G>T (p.Ser406Ile)
c.2738G>T (p.Ser913Ile)
c.3002G>T (p.Ser1001Ile)
c.2129-663G>T (n.2129-663G>T)
n.3075G>T
n.3283G>T
c.2492G>T (p.Ser831Ile)
c.1517G>T (p.Ser506Ile)
c.2231G>T (p.Ser744Ile)
c.3209G>T (p.Ser1070Ile)
n.3027G>T
n.3235G>T
 ClinVar dbSNP
1g.197434938T>ACA344045228CRB1c.3075T>A (p.Ser1025Arg)
c.1956T>A (p.Ser652Arg)
c.1218T>A (p.Ser406Arg)
c.2739T>A (p.Ser913Arg)
c.3003T>A (p.Ser1001Arg)
c.2129-662T>A (n.2129-662T>A)
n.3076T>A
n.3284T>A
c.2493T>A (p.Ser831Arg)
c.1518T>A (p.Ser506Arg)
c.2232T>A (p.Ser744Arg)
c.3210T>A (p.Ser1070Arg)
n.3028T>A
n.3236T>A
1g.197434938T>CCA422808763CRB1c.3075T>C (p.Ser1025=)
c.1956T>C (p.Ser652=)
c.1218T>C (p.Ser406=)
c.2739T>C (p.Ser913=)
c.3003T>C (p.Ser1001=)
c.2129-662T>C (n.2129-662T>C)
n.3076T>C
n.3284T>C
c.2493T>C (p.Ser831=)
c.1518T>C (p.Ser506=)
c.2232T>C (p.Ser744=)
c.3210T>C (p.Ser1070=)
n.3028T>C
n.3236T>C
 ClinVar
1g.197434938T>GCA344045232CRB1c.3075T>G (p.Ser1025Arg)
c.1956T>G (p.Ser652Arg)
c.1218T>G (p.Ser406Arg)
c.2739T>G (p.Ser913Arg)
c.3003T>G (p.Ser1001Arg)
c.2129-662T>G (n.2129-662T>G)
n.3076T>G
n.3284T>G
c.2493T>G (p.Ser831Arg)
c.1518T>G (p.Ser506Arg)
c.2232T>G (p.Ser744Arg)
c.3210T>G (p.Ser1070Arg)
n.3028T>G
n.3236T>G
1g.197434939T>ACA344045233CRB1c.3076T>A (p.Leu1026Met)
c.1957T>A (p.Leu653Met)
c.1219T>A (p.Leu407Met)
c.2740T>A (p.Leu914Met)
c.3004T>A (p.Leu1002Met)
c.2129-661T>A (n.2129-661T>A)
n.3077T>A
n.3285T>A
c.2494T>A (p.Leu832Met)
c.1519T>A (p.Leu507Met)
c.2233T>A (p.Leu745Met)
c.3211T>A (p.Leu1071Met)
n.3029T>A
n.3237T>A
1g.197434939T>CCA422808765CRB1c.3076T>C (p.Leu1026=)
c.1957T>C (p.Leu653=)
c.1219T>C (p.Leu407=)
c.2740T>C (p.Leu914=)
c.3004T>C (p.Leu1002=)
c.2129-661T>C (n.2129-661T>C)
n.3077T>C
n.3285T>C
c.2494T>C (p.Leu832=)
c.1519T>C (p.Leu507=)
c.2233T>C (p.Leu745=)
c.3211T>C (p.Leu1071=)
n.3029T>C
n.3237T>C
 gnomAD v4
1g.197434939T>GCA344045234CRB1c.3076T>G (p.Leu1026Val)
c.1957T>G (p.Leu653Val)
c.1219T>G (p.Leu407Val)
c.2740T>G (p.Leu914Val)
c.3004T>G (p.Leu1002Val)
c.2129-661T>G (n.2129-661T>G)
n.3077T>G
n.3285T>G
c.2494T>G (p.Leu832Val)
c.1519T>G (p.Leu507Val)
c.2233T>G (p.Leu745Val)
c.3211T>G (p.Leu1071Val)
n.3029T>G
n.3237T>G
1g.197434940T>ACA344045236CRB1c.3077T>A (p.Leu1026Ter)
c.1958T>A (p.Leu653Ter)
c.1220T>A (p.Leu407Ter)
c.2741T>A (p.Leu914Ter)
c.3005T>A (p.Leu1002Ter)
c.2129-660T>A (n.2129-660T>A)
n.3078T>A
n.3286T>A
c.2495T>A (p.Leu832Ter)
c.1520T>A (p.Leu507Ter)
c.2234T>A (p.Leu745Ter)
c.3212T>A (p.Leu1071Ter)
n.3030T>A
n.3238T>A
1g.197434940T>CCA344045239CRB1c.3077T>C (p.Leu1026Ser)
c.1958T>C (p.Leu653Ser)
c.1220T>C (p.Leu407Ser)
c.2741T>C (p.Leu914Ser)
c.3005T>C (p.Leu1002Ser)
c.2129-660T>C (n.2129-660T>C)
n.3078T>C
n.3286T>C
c.2495T>C (p.Leu832Ser)
c.1520T>C (p.Leu507Ser)
c.2234T>C (p.Leu745Ser)
c.3212T>C (p.Leu1071Ser)
n.3030T>C
n.3238T>C
 gnomAD v4
1g.197434940T>GCA344045242CRB1c.3077T>G (p.Leu1026Trp)
c.1958T>G (p.Leu653Trp)
c.1220T>G (p.Leu407Trp)
c.2741T>G (p.Leu914Trp)
c.3005T>G (p.Leu1002Trp)
c.2129-660T>G (n.2129-660T>G)
n.3078T>G
n.3286T>G
c.2495T>G (p.Leu832Trp)
c.1520T>G (p.Leu507Trp)
c.2234T>G (p.Leu745Trp)
c.3212T>G (p.Leu1071Trp)
n.3030T>G
n.3238T>G
1g.197434941G>ACA422808766CRB1c.3078G>A (p.Leu1026=)
c.1959G>A (p.Leu653=)
c.1221G>A (p.Leu407=)
c.2742G>A (p.Leu914=)
c.3006G>A (p.Leu1002=)
c.2129-659G>A (n.2129-659G>A)
n.3079G>A
n.3287G>A
c.2496G>A (p.Leu832=)
c.1521G>A (p.Leu507=)
c.2235G>A (p.Leu745=)
c.3213G>A (p.Leu1071=)
n.3031G>A
n.3239G>A
1g.197434941G>CCA344045247CRB1c.3078G>C (p.Leu1026Phe)
c.1959G>C (p.Leu653Phe)
c.1221G>C (p.Leu407Phe)
c.2742G>C (p.Leu914Phe)
c.3006G>C (p.Leu1002Phe)
c.2129-659G>C (n.2129-659G>C)
n.3079G>C
n.3287G>C
c.2496G>C (p.Leu832Phe)
c.1521G>C (p.Leu507Phe)
c.2235G>C (p.Leu745Phe)
c.3213G>C (p.Leu1071Phe)
n.3031G>C
n.3239G>C
1g.197434941G=CA1218068726CRB1c.3078G= (p.Leu1026=)
c.1959G= (p.Leu653=)
c.1221G= (p.Leu407=)
c.2742G= (p.Leu914=)
c.3006G= (p.Leu1002=)
c.2129-659G= (n.2129-659G=)
n.3079G=
n.3287G=
c.2496G= (p.Leu832=)
c.1521G= (p.Leu507=)
c.2235G= (p.Leu745=)
c.3213G= (p.Leu1071=)
n.3031G=
n.3239G=
1g.197434941G>TCA344045261CRB1c.3078G>T (p.Leu1026Phe)
c.1959G>T (p.Leu653Phe)
c.1221G>T (p.Leu407Phe)
c.2742G>T (p.Leu914Phe)
c.3006G>T (p.Leu1002Phe)
c.2129-659G>T (n.2129-659G>T)
n.3079G>T
n.3287G>T
c.2496G>T (p.Leu832Phe)
c.1521G>T (p.Leu507Phe)
c.2235G>T (p.Leu745Phe)
c.3213G>T (p.Leu1071Phe)
n.3031G>T
n.3239G>T
 dbSNP
1g.197434942C>ACA344045268CRB1c.3079C>A (p.Gln1027Lys)
c.1960C>A (p.Gln654Lys)
c.1222C>A (p.Gln408Lys)
c.2743C>A (p.Gln915Lys)
c.3007C>A (p.Gln1003Lys)
c.2129-658C>A (n.2129-658C>A)
n.3080C>A
n.3288C>A
c.2497C>A (p.Gln833Lys)
c.1522C>A (p.Gln508Lys)
c.2236C>A (p.Gln746Lys)
c.3214C>A (p.Gln1072Lys)
n.3032C>A
n.3240C>A
1g.197434942C>GCA344045271CRB1c.3079C>G (p.Gln1027Glu)
c.1960C>G (p.Gln654Glu)
c.1222C>G (p.Gln408Glu)
c.2743C>G (p.Gln915Glu)
c.3007C>G (p.Gln1003Glu)
c.2129-658C>G (n.2129-658C>G)
n.3080C>G
n.3288C>G
c.2497C>G (p.Gln833Glu)
c.1522C>G (p.Gln508Glu)
c.2236C>G (p.Gln746Glu)
c.3214C>G (p.Gln1072Glu)
n.3032C>G
n.3240C>G
1g.197434942C>TCA344045274CRB1c.3079C>T (p.Gln1027Ter)
c.1960C>T (p.Gln654Ter)
c.1222C>T (p.Gln408Ter)
c.2743C>T (p.Gln915Ter)
c.3007C>T (p.Gln1003Ter)
c.2129-658C>T (n.2129-658C>T)
n.3080C>T
n.3288C>T
c.2497C>T (p.Gln833Ter)
c.1522C>T (p.Gln508Ter)
c.2236C>T (p.Gln746Ter)
c.3214C>T (p.Gln1072Ter)
n.3032C>T
n.3240C>T
 COSMIC
1g.197434942_197434943delinsCACA1218068727CRB1c.3079_3080delinsCA (p.Gln1027=)
c.1960_1961delinsCA (p.Gln654=)
c.1222_1223delinsCA (p.Gln408=)
c.2743_2744delinsCA (p.Gln915=)
c.3007_3008delinsCA (p.Gln1003=)
c.2129-658_2129-657delinsCA (n.2129-658_2129-657delinsCA)
n.3080_3081delinsCA
n.3288_3289delinsCA
c.2497_2498delinsCA (p.Gln833=)
c.1522_1523delinsCA (p.Gln508=)
c.2236_2237delinsCA (p.Gln746=)
c.3214_3215delinsCA (p.Gln1072=)
n.3032_3033delinsCA
n.3240_3241delinsCA
1g.197434943delCA913189557CRB1c.3080del (p.Gln1027ArgfsTer3)
c.1961del (p.Gln654ArgfsTer3)
c.1223del (p.Gln408ArgfsTer3)
c.2744del (p.Gln915ArgfsTer3)
c.3008del (p.Gln1003ArgfsTer3)
c.2129-657del (n.2129-657del)
n.3081del
n.3289del
c.2498del (p.Gln833ArgfsTer3)
c.1523del (p.Gln508ArgfsTer3)
c.2237del (p.Gln746ArgfsTer3)
c.3215del (p.Gln1072ArgfsTer3)
n.3033del
n.3241del
 ClinVar dbSNP
1g.197434943A>CCA344045278CRB1c.3080A>C (p.Gln1027Pro)
c.1961A>C (p.Gln654Pro)
c.1223A>C (p.Gln408Pro)
c.2744A>C (p.Gln915Pro)
c.3008A>C (p.Gln1003Pro)
c.2129-657A>C (n.2129-657A>C)
n.3081A>C
n.3289A>C
c.2498A>C (p.Gln833Pro)
c.1523A>C (p.Gln508Pro)
c.2237A>C (p.Gln746Pro)
c.3215A>C (p.Gln1072Pro)
n.3033A>C
n.3241A>C
1g.197434943A>GCA344045280CRB1c.3080A>G (p.Gln1027Arg)
c.1961A>G (p.Gln654Arg)
c.1223A>G (p.Gln408Arg)
c.2744A>G (p.Gln915Arg)
c.3008A>G (p.Gln1003Arg)
c.2129-657A>G (n.2129-657A>G)
n.3081A>G
n.3289A>G
c.2498A>G (p.Gln833Arg)
c.1523A>G (p.Gln508Arg)
c.2237A>G (p.Gln746Arg)
c.3215A>G (p.Gln1072Arg)
n.3033A>G
n.3241A>G
1g.197434943A>TCA344045282CRB1c.3080A>T (p.Gln1027Leu)
c.1961A>T (p.Gln654Leu)
c.1223A>T (p.Gln408Leu)
c.2744A>T (p.Gln915Leu)
c.3008A>T (p.Gln1003Leu)
c.2129-657A>T (n.2129-657A>T)
n.3081A>T
n.3289A>T
c.2498A>T (p.Gln833Leu)
c.1523A>T (p.Gln508Leu)
c.2237A>T (p.Gln746Leu)
c.3215A>T (p.Gln1072Leu)
n.3033A>T
n.3241A>T
 ClinVar
1g.197434944G>ACA422808769CRB1c.3081G>A (p.Gln1027=)
c.1962G>A (p.Gln654=)
c.1224G>A (p.Gln408=)
c.2745G>A (p.Gln915=)
c.3009G>A (p.Gln1003=)
c.2129-656G>A (n.2129-656G>A)
n.3082G>A
n.3290G>A
c.2499G>A (p.Gln833=)
c.1524G>A (p.Gln508=)
c.2238G>A (p.Gln746=)
c.3216G>A (p.Gln1072=)
n.3034G>A
n.3242G>A
 dbSNP
1g.197434944G>CCA344045289CRB1c.3081G>C (p.Gln1027His)
c.1962G>C (p.Gln654His)
c.1224G>C (p.Gln408His)
c.2745G>C (p.Gln915His)
c.3009G>C (p.Gln1003His)
c.2129-656G>C (n.2129-656G>C)
n.3082G>C
n.3290G>C
c.2499G>C (p.Gln833His)
c.1524G>C (p.Gln508His)
c.2238G>C (p.Gln746His)
c.3216G>C (p.Gln1072His)
n.3034G>C
n.3242G>C
1g.197434944G=CA1218068728CRB1c.3081G= (p.Gln1027=)
c.1962G= (p.Gln654=)
c.1224G= (p.Gln408=)
c.2745G= (p.Gln915=)
c.3009G= (p.Gln1003=)
c.2129-656G= (n.2129-656G=)
n.3082G=
n.3290G=
c.2499G= (p.Gln833=)
c.1524G= (p.Gln508=)
c.2238G= (p.Gln746=)
c.3216G= (p.Gln1072=)
n.3034G=
n.3242G=
1g.197434944G>TCA344045286CRB1c.3081G>T (p.Gln1027His)
c.1962G>T (p.Gln654His)
c.1224G>T (p.Gln408His)
c.2745G>T (p.Gln915His)
c.3009G>T (p.Gln1003His)
c.2129-656G>T (n.2129-656G>T)
n.3082G>T
n.3290G>T
c.2499G>T (p.Gln833His)
c.1524G>T (p.Gln508His)
c.2238G>T (p.Gln746His)
c.3216G>T (p.Gln1072His)
n.3034G>T
n.3242G>T
 dbSNP gnomAD v2 gnomAD v4
1g.197434945T>ACA344045294CRB1c.3082T>A (p.Ser1028Thr)
c.1963T>A (p.Ser655Thr)
c.1225T>A (p.Ser409Thr)
c.2746T>A (p.Ser916Thr)
c.3010T>A (p.Ser1004Thr)
c.2129-655T>A (n.2129-655T>A)
n.3083T>A
n.3291T>A
c.2500T>A (p.Ser834Thr)
c.1525T>A (p.Ser509Thr)
c.2239T>A (p.Ser747Thr)
c.3217T>A (p.Ser1073Thr)
n.3035T>A
n.3243T>A
1g.197434945T>CCA344045300CRB1c.3082T>C (p.Ser1028Pro)
c.1963T>C (p.Ser655Pro)
c.1225T>C (p.Ser409Pro)
c.2746T>C (p.Ser916Pro)
c.3010T>C (p.Ser1004Pro)
c.2129-655T>C (n.2129-655T>C)
n.3083T>C
n.3291T>C
c.2500T>C (p.Ser834Pro)
c.1525T>C (p.Ser509Pro)
c.2239T>C (p.Ser747Pro)
c.3217T>C (p.Ser1073Pro)
n.3035T>C
n.3243T>C
 gnomAD v4
1g.197434945T>GCA344045299CRB1c.3082T>G (p.Ser1028Ala)
c.1963T>G (p.Ser655Ala)
c.1225T>G (p.Ser409Ala)
c.2746T>G (p.Ser916Ala)
c.3010T>G (p.Ser1004Ala)
c.2129-655T>G (n.2129-655T>G)
n.3083T>G
n.3291T>G
c.2500T>G (p.Ser834Ala)
c.1525T>G (p.Ser509Ala)
c.2239T>G (p.Ser747Ala)
c.3217T>G (p.Ser1073Ala)
n.3035T>G
n.3243T>G
1g.197434946C>ACA344045301CRB1c.3083C>A (p.Ser1028Ter)
c.1964C>A (p.Ser655Ter)
c.1226C>A (p.Ser409Ter)
c.2747C>A (p.Ser916Ter)
c.3011C>A (p.Ser1004Ter)
c.2129-654C>A (n.2129-654C>A)
n.3084C>A
n.3292C>A
c.2501C>A (p.Ser834Ter)
c.1526C>A (p.Ser509Ter)
c.2240C>A (p.Ser747Ter)
c.3218C>A (p.Ser1073Ter)
n.3036C>A
n.3244C>A
 gnomAD v4
1g.197434946C=CA1218068729CRB1c.3083C= (p.Ser1028=)
c.1964C= (p.Ser655=)
c.1226C= (p.Ser409=)
c.2747C= (p.Ser916=)
c.3011C= (p.Ser1004=)
c.2129-654C= (n.2129-654C=)
n.3084C=
n.3292C=
c.2501C= (p.Ser834=)
c.1526C= (p.Ser509=)
c.2240C= (p.Ser747=)
c.3218C= (p.Ser1073=)
n.3036C=
n.3244C=
1g.197434946C>GCA344045302CRB1c.3083C>G (p.Ser1028Ter)
c.1964C>G (p.Ser655Ter)
c.1226C>G (p.Ser409Ter)
c.2747C>G (p.Ser916Ter)
c.3011C>G (p.Ser1004Ter)
c.2129-654C>G (n.2129-654C>G)
n.3084C>G
n.3292C>G
c.2501C>G (p.Ser834Ter)
c.1526C>G (p.Ser509Ter)
c.2240C>G (p.Ser747Ter)
c.3218C>G (p.Ser1073Ter)
n.3036C>G
n.3244C>G
 dbSNP gnomAD v2 gnomAD v4
1g.197434946C>TCA344045304CRB1c.3083C>T (p.Ser1028Leu)
c.1964C>T (p.Ser655Leu)
c.1226C>T (p.Ser409Leu)
c.2747C>T (p.Ser916Leu)
c.3011C>T (p.Ser1004Leu)
c.2129-654C>T (n.2129-654C>T)
n.3084C>T
n.3292C>T
c.2501C>T (p.Ser834Leu)
c.1526C>T (p.Ser509Leu)
c.2240C>T (p.Ser747Leu)
c.3218C>T (p.Ser1073Leu)
n.3036C>T
n.3244C>T
1g.197434947A>CCA422808773CRB1c.3084A>C (p.Ser1028=)
c.1965A>C (p.Ser655=)
c.1227A>C (p.Ser409=)
c.2748A>C (p.Ser916=)
c.3012A>C (p.Ser1004=)
c.2129-653A>C (n.2129-653A>C)
n.3085A>C
n.3293A>C
c.2502A>C (p.Ser834=)
c.1527A>C (p.Ser509=)
c.2241A>C (p.Ser747=)
c.3219A>C (p.Ser1073=)
n.3037A>C
n.3245A>C
1g.197434947A>GCA422808774CRB1c.3084A>G (p.Ser1028=)
c.1965A>G (p.Ser655=)
c.1227A>G (p.Ser409=)
c.2748A>G (p.Ser916=)
c.3012A>G (p.Ser1004=)
c.2129-653A>G (n.2129-653A>G)
n.3085A>G
n.3293A>G
c.2502A>G (p.Ser834=)
c.1527A>G (p.Ser509=)
c.2241A>G (p.Ser747=)
c.3219A>G (p.Ser1073=)
n.3037A>G
n.3245A>G
1g.197434947A>TCA422808776CRB1c.3084A>T (p.Ser1028=)
c.1965A>T (p.Ser655=)
c.1227A>T (p.Ser409=)
c.2748A>T (p.Ser916=)
c.3012A>T (p.Ser1004=)
c.2129-653A>T (n.2129-653A>T)
n.3085A>T
n.3293A>T
c.2502A>T (p.Ser834=)
c.1527A>T (p.Ser509=)
c.2241A>T (p.Ser747=)
c.3219A>T (p.Ser1073=)
n.3037A>T
n.3245A>T
1g.197434948G>ACA1312270CRB1c.3085G>A (p.Val1029Met)
c.1966G>A (p.Val656Met)
c.1228G>A (p.Val410Met)
c.2749G>A (p.Val917Met)
c.3013G>A (p.Val1005Met)
c.2129-652G>A (n.2129-652G>A)
n.3086G>A
n.3294G>A
c.2503G>A (p.Val835Met)
c.1528G>A (p.Val510Met)
c.2242G>A (p.Val748Met)
c.3220G>A (p.Val1074Met)
n.3038G>A
n.3246G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434948G>CCA344045312CRB1c.3085G>C (p.Val1029Leu)
c.1966G>C (p.Val656Leu)
c.1228G>C (p.Val410Leu)
c.2749G>C (p.Val917Leu)
c.3013G>C (p.Val1005Leu)
c.2129-652G>C (n.2129-652G>C)
n.3086G>C
n.3294G>C
c.2503G>C (p.Val835Leu)
c.1528G>C (p.Val510Leu)
c.2242G>C (p.Val748Leu)
c.3220G>C (p.Val1074Leu)
n.3038G>C
n.3246G>C
1g.197434948G=CA1218068730CRB1c.3085G= (p.Val1029=)
c.1966G= (p.Val656=)
c.1228G= (p.Val410=)
c.2749G= (p.Val917=)
c.3013G= (p.Val1005=)
c.2129-652G= (n.2129-652G=)
n.3086G=
n.3294G=
c.2503G= (p.Val835=)
c.1528G= (p.Val510=)
c.2242G= (p.Val748=)
c.3220G= (p.Val1074=)
n.3038G=
n.3246G=
1g.197434948G>TCA344045316CRB1c.3085G>T (p.Val1029Leu)
c.1966G>T (p.Val656Leu)
c.1228G>T (p.Val410Leu)
c.2749G>T (p.Val917Leu)
c.3013G>T (p.Val1005Leu)
c.2129-652G>T (n.2129-652G>T)
n.3086G>T
n.3294G>T
c.2503G>T (p.Val835Leu)
c.1528G>T (p.Val510Leu)
c.2242G>T (p.Val748Leu)
c.3220G>T (p.Val1074Leu)
n.3038G>T
n.3246G>T
1g.197434949T>ACA16621584CRB1c.3086T>A (p.Val1029Glu)
c.1967T>A (p.Val656Glu)
c.1229T>A (p.Val410Glu)
c.2750T>A (p.Val917Glu)
c.3014T>A (p.Val1005Glu)
c.2129-651T>A (n.2129-651T>A)
n.3087T>A
n.3295T>A
c.2504T>A (p.Val835Glu)
c.1529T>A (p.Val510Glu)
c.2243T>A (p.Val748Glu)
c.3221T>A (p.Val1074Glu)
n.3039T>A
n.3247T>A
 ClinVar dbSNP
1g.197434949T>CCA344045342CRB1c.3086T>C (p.Val1029Ala)
c.1967T>C (p.Val656Ala)
c.1229T>C (p.Val410Ala)
c.2750T>C (p.Val917Ala)
c.3014T>C (p.Val1005Ala)
c.2129-651T>C (n.2129-651T>C)
n.3087T>C
n.3295T>C
c.2504T>C (p.Val835Ala)
c.1529T>C (p.Val510Ala)
c.2243T>C (p.Val748Ala)
c.3221T>C (p.Val1074Ala)
n.3039T>C
n.3247T>C
 ClinVar dbSNP
1g.197434949T>GCA344045343CRB1c.3086T>G (p.Val1029Gly)
c.1967T>G (p.Val656Gly)
c.1229T>G (p.Val410Gly)
c.2750T>G (p.Val917Gly)
c.3014T>G (p.Val1005Gly)
c.2129-651T>G (n.2129-651T>G)
n.3087T>G
n.3295T>G
c.2504T>G (p.Val835Gly)
c.1529T>G (p.Val510Gly)
c.2243T>G (p.Val748Gly)
c.3221T>G (p.Val1074Gly)
n.3039T>G
n.3247T>G
1g.197434949T=CA1218068731CRB1c.3086T= (p.Val1029=)
c.1967T= (p.Val656=)
c.1229T= (p.Val410=)
c.2750T= (p.Val917=)
c.3014T= (p.Val1005=)
c.2129-651T= (n.2129-651T=)
n.3087T=
n.3295T=
c.2504T= (p.Val835=)
c.1529T= (p.Val510=)
c.2243T= (p.Val748=)
c.3221T= (p.Val1074=)
n.3039T=
n.3247T=
1g.197434950G>ACA1312271CRB1c.3087G>A (p.Val1029=)
c.1968G>A (p.Val656=)
c.1230G>A (p.Val410=)
c.2751G>A (p.Val917=)
c.3015G>A (p.Val1005=)
c.2129-650G>A (n.2129-650G>A)
n.3088G>A
n.3296G>A
c.2505G>A (p.Val835=)
c.1530G>A (p.Val510=)
c.2244G>A (p.Val748=)
c.3222G>A (p.Val1074=)
n.3040G>A
n.3248G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434950G>CCA422808779CRB1c.3087G>C (p.Val1029=)
c.1968G>C (p.Val656=)
c.1230G>C (p.Val410=)
c.2751G>C (p.Val917=)
c.3015G>C (p.Val1005=)
c.2129-650G>C (n.2129-650G>C)
n.3088G>C
n.3296G>C
c.2505G>C (p.Val835=)
c.1530G>C (p.Val510=)
c.2244G>C (p.Val748=)
c.3222G>C (p.Val1074=)
n.3040G>C
n.3248G>C
1g.197434950G=CA1218068732CRB1c.3087G= (p.Val1029=)
c.1968G= (p.Val656=)
c.1230G= (p.Val410=)
c.2751G= (p.Val917=)
c.3015G= (p.Val1005=)
c.2129-650G= (n.2129-650G=)
n.3088G=
n.3296G=
c.2505G= (p.Val835=)
c.1530G= (p.Val510=)
c.2244G= (p.Val748=)
c.3222G= (p.Val1074=)
n.3040G=
n.3248G=
1g.197434950G>TCA422808781CRB1c.3087G>T (p.Val1029=)
c.1968G>T (p.Val656=)
c.1230G>T (p.Val410=)
c.2751G>T (p.Val917=)
c.3015G>T (p.Val1005=)
c.2129-650G>T (n.2129-650G>T)
n.3088G>T
n.3296G>T
c.2505G>T (p.Val835=)
c.1530G>T (p.Val510=)
c.2244G>T (p.Val748=)
c.3222G>T (p.Val1074=)
n.3040G>T
n.3248G>T
 dbSNP
1g.197434951A>CCA344045348CRB1c.3088A>C (p.Asn1030His)
c.1969A>C (p.Asn657His)
c.1231A>C (p.Asn411His)
c.2752A>C (p.Asn918His)
c.3016A>C (p.Asn1006His)
c.2129-649A>C (n.2129-649A>C)
n.3089A>C
n.3297A>C
c.2506A>C (p.Asn836His)
c.1531A>C (p.Asn511His)
c.2245A>C (p.Asn749His)
c.3223A>C (p.Asn1075His)
n.3041A>C
n.3249A>C
1g.197434951A>GCA344045351CRB1c.3088A>G (p.Asn1030Asp)
c.1969A>G (p.Asn657Asp)
c.1231A>G (p.Asn411Asp)
c.2752A>G (p.Asn918Asp)
c.3016A>G (p.Asn1006Asp)
c.2129-649A>G (n.2129-649A>G)
n.3089A>G
n.3297A>G
c.2506A>G (p.Asn836Asp)
c.1531A>G (p.Asn511Asp)
c.2245A>G (p.Asn749Asp)
c.3223A>G (p.Asn1075Asp)
n.3041A>G
n.3249A>G
1g.197434951A>TCA344045354CRB1c.3088A>T (p.Asn1030Tyr)
c.1969A>T (p.Asn657Tyr)
c.1231A>T (p.Asn411Tyr)
c.2752A>T (p.Asn918Tyr)
c.3016A>T (p.Asn1006Tyr)
c.2129-649A>T (n.2129-649A>T)
n.3089A>T
n.3297A>T
c.2506A>T (p.Asn836Tyr)
c.1531A>T (p.Asn511Tyr)
c.2245A>T (p.Asn749Tyr)
c.3223A>T (p.Asn1075Tyr)
n.3041A>T
n.3249A>T
1g.197434952A>CCA344045361CRB1c.3089A>C (p.Asn1030Thr)
c.1970A>C (p.Asn657Thr)
c.1232A>C (p.Asn411Thr)
c.2753A>C (p.Asn918Thr)
c.3017A>C (p.Asn1006Thr)
c.2129-648A>C (n.2129-648A>C)
n.3090A>C
n.3298A>C
c.2507A>C (p.Asn836Thr)
c.1532A>C (p.Asn511Thr)
c.2246A>C (p.Asn749Thr)
c.3224A>C (p.Asn1075Thr)
n.3042A>C
n.3250A>C
1g.197434952A>GCA344045369CRB1c.3089A>G (p.Asn1030Ser)
c.1970A>G (p.Asn657Ser)
c.1232A>G (p.Asn411Ser)
c.2753A>G (p.Asn918Ser)
c.3017A>G (p.Asn1006Ser)
c.2129-648A>G (n.2129-648A>G)
n.3090A>G
n.3298A>G
c.2507A>G (p.Asn836Ser)
c.1532A>G (p.Asn511Ser)
c.2246A>G (p.Asn749Ser)
c.3224A>G (p.Asn1075Ser)
n.3042A>G
n.3250A>G
1g.197434952A>TCA344045367CRB1c.3089A>T (p.Asn1030Ile)
c.1970A>T (p.Asn657Ile)
c.1232A>T (p.Asn411Ile)
c.2753A>T (p.Asn918Ile)
c.3017A>T (p.Asn1006Ile)
c.2129-648A>T (n.2129-648A>T)
n.3090A>T
n.3298A>T
c.2507A>T (p.Asn836Ile)
c.1532A>T (p.Asn511Ile)
c.2246A>T (p.Asn749Ile)
c.3224A>T (p.Asn1075Ile)
n.3042A>T
n.3250A>T
1g.197434953T>ACA344045374CRB1c.3090T>A (p.Asn1030Lys)
c.1971T>A (p.Asn657Lys)
c.1233T>A (p.Asn411Lys)
c.2754T>A (p.Asn918Lys)
c.3018T>A (p.Asn1006Lys)
c.2129-647T>A (n.2129-647T>A)
n.3091T>A
n.3299T>A
c.2508T>A (p.Asn836Lys)
c.1533T>A (p.Asn511Lys)
c.2247T>A (p.Asn749Lys)
c.3225T>A (p.Asn1075Lys)
n.3043T>A
n.3251T>A
1g.197434953T>CCA422808784CRB1c.3090T>C (p.Asn1030=)
c.1971T>C (p.Asn657=)
c.1233T>C (p.Asn411=)
c.2754T>C (p.Asn918=)
c.3018T>C (p.Asn1006=)
c.2129-647T>C (n.2129-647T>C)
n.3091T>C
n.3299T>C
c.2508T>C (p.Asn836=)
c.1533T>C (p.Asn511=)
c.2247T>C (p.Asn749=)
c.3225T>C (p.Asn1075=)
n.3043T>C
n.3251T>C
1g.197434953T>GCA344045378CRB1c.3090T>G (p.Asn1030Lys)
c.1971T>G (p.Asn657Lys)
c.1233T>G (p.Asn411Lys)
c.2754T>G (p.Asn918Lys)
c.3018T>G (p.Asn1006Lys)
c.2129-647T>G (n.2129-647T>G)
n.3091T>G
n.3299T>G
c.2508T>G (p.Asn836Lys)
c.1533T>G (p.Asn511Lys)
c.2247T>G (p.Asn749Lys)
c.3225T>G (p.Asn1075Lys)
n.3043T>G
n.3251T>G
1g.197434953_197434954insAATCTGCA2564676228CRB1c.3090_3091insAATCTG (p.Asn1030_Asp1031insAsnLeu)
c.1971_1972insAATCTG (p.Asn657_Asp658insAsnLeu)
c.1233_1234insAATCTG (p.Asn411_Asp412insAsnLeu)
c.2754_2755insAATCTG (p.Asn918_Asp919insAsnLeu)
c.3018_3019insAATCTG (p.Asn1006_Asp1007insAsnLeu)
c.2129-647_2129-646insAATCTG (n.2129-647_2129-646insAATCTG)
n.3091_3092insAATCTG
n.3299_3300insAATCTG
c.2508_2509insAATCTG (p.Asn836_Asp837insAsnLeu)
c.1533_1534insAATCTG (p.Asn511_Asp512insAsnLeu)
c.2247_2248insAATCTG (p.Asn749_Asp750insAsnLeu)
c.3225_3226insAATCTG (p.Asn1075_Asp1076insAsnLeu)
n.3043_3044insAATCTG
n.3251_3252insAATCTG
1g.197434954G>ACA344045388CRB1c.3091G>A (p.Asp1031Asn)
c.1972G>A (p.Asp658Asn)
c.1234G>A (p.Asp412Asn)
c.2755G>A (p.Asp919Asn)
c.3019G>A (p.Asp1007Asn)
c.2129-646G>A (n.2129-646G>A)
n.3092G>A
n.3300G>A
c.2509G>A (p.Asp837Asn)
c.1534G>A (p.Asp512Asn)
c.2248G>A (p.Asp750Asn)
c.3226G>A (p.Asp1076Asn)
n.3044G>A
n.3252G>A
 ClinVar dbSNP
1g.197434954G>CCA344045391CRB1c.3091G>C (p.Asp1031His)
c.1972G>C (p.Asp658His)
c.1234G>C (p.Asp412His)
c.2755G>C (p.Asp919His)
c.3019G>C (p.Asp1007His)
c.2129-646G>C (n.2129-646G>C)
n.3092G>C
n.3300G>C
c.2509G>C (p.Asp837His)
c.1534G>C (p.Asp512His)
c.2248G>C (p.Asp750His)
c.3226G>C (p.Asp1076His)
n.3044G>C
n.3252G>C
1g.197434954G>TCA344045396CRB1c.3091G>T (p.Asp1031Tyr)
c.1972G>T (p.Asp658Tyr)
c.1234G>T (p.Asp412Tyr)
c.2755G>T (p.Asp919Tyr)
c.3019G>T (p.Asp1007Tyr)
c.2129-646G>T (n.2129-646G>T)
n.3092G>T
n.3300G>T
c.2509G>T (p.Asp837Tyr)
c.1534G>T (p.Asp512Tyr)
c.2248G>T (p.Asp750Tyr)
c.3226G>T (p.Asp1076Tyr)
n.3044G>T
n.3252G>T
1g.197434955A>CCA344045415CRB1c.3092A>C (p.Asp1031Ala)
c.1973A>C (p.Asp658Ala)
c.1235A>C (p.Asp412Ala)
c.2756A>C (p.Asp919Ala)
c.3020A>C (p.Asp1007Ala)
c.2129-645A>C (n.2129-645A>C)
n.3093A>C
n.3301A>C
c.2510A>C (p.Asp837Ala)
c.1535A>C (p.Asp512Ala)
c.2249A>C (p.Asp750Ala)
c.3227A>C (p.Asp1076Ala)
n.3045A>C
n.3253A>C
1g.197434955A>GCA344045417CRB1c.3092A>G (p.Asp1031Gly)
c.1973A>G (p.Asp658Gly)
c.1235A>G (p.Asp412Gly)
c.2756A>G (p.Asp919Gly)
c.3020A>G (p.Asp1007Gly)
c.2129-645A>G (n.2129-645A>G)
n.3093A>G
n.3301A>G
c.2510A>G (p.Asp837Gly)
c.1535A>G (p.Asp512Gly)
c.2249A>G (p.Asp750Gly)
c.3227A>G (p.Asp1076Gly)
n.3045A>G
n.3253A>G
1g.197434955A>TCA344045418CRB1c.3092A>T (p.Asp1031Val)
c.1973A>T (p.Asp658Val)
c.1235A>T (p.Asp412Val)
c.2756A>T (p.Asp919Val)
c.3020A>T (p.Asp1007Val)
c.2129-645A>T (n.2129-645A>T)
n.3093A>T
n.3301A>T
c.2510A>T (p.Asp837Val)
c.1535A>T (p.Asp512Val)
c.2249A>T (p.Asp750Val)
c.3227A>T (p.Asp1076Val)
n.3045A>T
n.3253A>T
1g.197434955_197434956insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTATCA2510878745CRB1c.3092_3093insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp1031GlufsTer3)
c.1973_1974insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp658GlufsTer3)
c.1235_1236insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp412GlufsTer3)
c.2756_2757insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp919GlufsTer3)
c.3020_3021insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp1007GlufsTer3)
c.2129-645_2129-644insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (n.2129-645_2129-644insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT)
n.3093_3094insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT
n.3301_3302insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT
c.2510_2511insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp837GlufsTer3)
c.1535_1536insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp512GlufsTer3)
c.2249_2250insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp750GlufsTer3)
c.3227_3228insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT (p.Asp1076GlufsTer3)
n.3045_3046insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT
n.3253_3254insATCTTGAATGCTAATATTAAGAAATTCAGGCTCTTTTTCTGCATGCAATATTAT
1g.197434956T>ACA344045426CRB1c.3093T>A (p.Asp1031Glu)
c.1974T>A (p.Asp658Glu)
c.1236T>A (p.Asp412Glu)
c.2757T>A (p.Asp919Glu)
c.3021T>A (p.Asp1007Glu)
c.2129-644T>A (n.2129-644T>A)
n.3094T>A
n.3302T>A
c.2511T>A (p.Asp837Glu)
c.1536T>A (p.Asp512Glu)
c.2250T>A (p.Asp750Glu)
c.3228T>A (p.Asp1076Glu)
n.3046T>A
n.3254T>A
 gnomAD v4
1g.197434956T>CCA422808787CRB1c.3093T>C (p.Asp1031=)
c.1974T>C (p.Asp658=)
c.1236T>C (p.Asp412=)
c.2757T>C (p.Asp919=)
c.3021T>C (p.Asp1007=)
c.2129-644T>C (n.2129-644T>C)
n.3094T>C
n.3302T>C
c.2511T>C (p.Asp837=)
c.1536T>C (p.Asp512=)
c.2250T>C (p.Asp750=)
c.3228T>C (p.Asp1076=)
n.3046T>C
n.3254T>C
 ClinVar dbSNP
1g.197434956T>GCA344045431CRB1c.3093T>G (p.Asp1031Glu)
c.1974T>G (p.Asp658Glu)
c.1236T>G (p.Asp412Glu)
c.2757T>G (p.Asp919Glu)
c.3021T>G (p.Asp1007Glu)
c.2129-644T>G (n.2129-644T>G)
n.3094T>G
n.3302T>G
c.2511T>G (p.Asp837Glu)
c.1536T>G (p.Asp512Glu)
c.2250T>G (p.Asp750Glu)
c.3228T>G (p.Asp1076Glu)
n.3046T>G
n.3254T>G
1g.197434956T=CA1218068733CRB1c.3093T= (p.Asp1031=)
c.1974T= (p.Asp658=)
c.1236T= (p.Asp412=)
c.2757T= (p.Asp919=)
c.3021T= (p.Asp1007=)
c.2129-644T= (n.2129-644T=)
n.3094T=
n.3302T=
c.2511T= (p.Asp837=)
c.1536T= (p.Asp512=)
c.2250T= (p.Asp750=)
c.3228T= (p.Asp1076=)
n.3046T=
n.3254T=
1g.197434957G>ACA344045443CRB1c.3094G>A (p.Gly1032Ser)
c.1975G>A (p.Gly659Ser)
c.1237G>A (p.Gly413Ser)
c.2758G>A (p.Gly920Ser)
c.3022G>A (p.Gly1008Ser)
c.2129-643G>A (n.2129-643G>A)
n.3095G>A
n.3303G>A
c.2512G>A (p.Gly838Ser)
c.1537G>A (p.Gly513Ser)
c.2251G>A (p.Gly751Ser)
c.3229G>A (p.Gly1077Ser)
n.3047G>A
n.3255G>A
 COSMIC COSMIC
1g.197434957G>CCA344045440CRB1c.3094G>C (p.Gly1032Arg)
c.1975G>C (p.Gly659Arg)
c.1237G>C (p.Gly413Arg)
c.2758G>C (p.Gly920Arg)
c.3022G>C (p.Gly1008Arg)
c.2129-643G>C (n.2129-643G>C)
n.3095G>C
n.3303G>C
c.2512G>C (p.Gly838Arg)
c.1537G>C (p.Gly513Arg)
c.2251G>C (p.Gly751Arg)
c.3229G>C (p.Gly1077Arg)
n.3047G>C
n.3255G>C
1g.197434957G>TCA344045436CRB1c.3094G>T (p.Gly1032Cys)
c.1975G>T (p.Gly659Cys)
c.1237G>T (p.Gly413Cys)
c.2758G>T (p.Gly920Cys)
c.3022G>T (p.Gly1008Cys)
c.2129-643G>T (n.2129-643G>T)
n.3095G>T
n.3303G>T
c.2512G>T (p.Gly838Cys)
c.1537G>T (p.Gly513Cys)
c.2251G>T (p.Gly751Cys)
c.3229G>T (p.Gly1077Cys)
n.3047G>T
n.3255G>T
1g.197434958G>ACA1312272CRB1c.3095G>A (p.Gly1032Asp)
c.1976G>A (p.Gly659Asp)
c.1238G>A (p.Gly413Asp)
c.2759G>A (p.Gly920Asp)
c.3023G>A (p.Gly1008Asp)
c.2129-642G>A (n.2129-642G>A)
n.3096G>A
n.3304G>A
c.2513G>A (p.Gly838Asp)
c.1538G>A (p.Gly513Asp)
c.2252G>A (p.Gly751Asp)
c.3230G>A (p.Gly1077Asp)
n.3048G>A
n.3256G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197434958G>CCA344045447CRB1c.3095G>C (p.Gly1032Ala)
c.1976G>C (p.Gly659Ala)
c.1238G>C (p.Gly413Ala)
c.2759G>C (p.Gly920Ala)
c.3023G>C (p.Gly1008Ala)
c.2129-642G>C (n.2129-642G>C)
n.3096G>C
n.3304G>C
c.2513G>C (p.Gly838Ala)
c.1538G>C (p.Gly513Ala)
c.2252G>C (p.Gly751Ala)
c.3230G>C (p.Gly1077Ala)
n.3048G>C
n.3256G>C
1g.197434958G=CA1147864130CRB1c.3095G= (p.Gly1032=)
c.1976G= (p.Gly659=)
c.1238G= (p.Gly413=)
c.2759G= (p.Gly920=)
c.3023G= (p.Gly1008=)
c.2129-642G= (n.2129-642G=)
n.3096G=
n.3304G=
c.2513G= (p.Gly838=)
c.1538G= (p.Gly513=)
c.2252G= (p.Gly751=)
c.3230G= (p.Gly1077=)
n.3048G=
n.3256G=
1g.197434958G>TCA344045451CRB1c.3095G>T (p.Gly1032Val)
c.1976G>T (p.Gly659Val)
c.1238G>T (p.Gly413Val)
c.2759G>T (p.Gly920Val)
c.3023G>T (p.Gly1008Val)
c.2129-642G>T (n.2129-642G>T)
n.3096G>T
n.3304G>T
c.2513G>T (p.Gly838Val)
c.1538G>T (p.Gly513Val)
c.2252G>T (p.Gly751Val)
c.3230G>T (p.Gly1077Val)
n.3048G>T
n.3256G>T
1g.197434959C>ACA422808788CRB1c.3096C>A (p.Gly1032=)
c.1977C>A (p.Gly659=)
c.1239C>A (p.Gly413=)
c.2760C>A (p.Gly920=)
c.3024C>A (p.Gly1008=)
c.2129-641C>A (n.2129-641C>A)
n.3097C>A
n.3305C>A
c.2514C>A (p.Gly838=)
c.1539C>A (p.Gly513=)
c.2253C>A (p.Gly751=)
c.3231C>A (p.Gly1077=)
n.3049C>A
n.3257C>A
1g.197434959C=CA1218068734CRB1c.3096C= (p.Gly1032=)
c.1977C= (p.Gly659=)
c.1239C= (p.Gly413=)
c.2760C= (p.Gly920=)
c.3024C= (p.Gly1008=)
c.2129-641C= (n.2129-641C=)
n.3097C=
n.3305C=
c.2514C= (p.Gly838=)
c.1539C= (p.Gly513=)
c.2253C= (p.Gly751=)
c.3231C= (p.Gly1077=)
n.3049C=
n.3257C=
1g.197434959C>GCA422808789CRB1c.3096C>G (p.Gly1032=)
c.1977C>G (p.Gly659=)
c.1239C>G (p.Gly413=)
c.2760C>G (p.Gly920=)
c.3024C>G (p.Gly1008=)
c.2129-641C>G (n.2129-641C>G)
n.3097C>G
n.3305C>G
c.2514C>G (p.Gly838=)
c.1539C>G (p.Gly513=)
c.2253C>G (p.Gly751=)
c.3231C>G (p.Gly1077=)
n.3049C>G
n.3257C>G
1g.197434959C>TCA1312273CRB1c.3096C>T (p.Gly1032=)
c.1977C>T (p.Gly659=)
c.1239C>T (p.Gly413=)
c.2760C>T (p.Gly920=)
c.3024C>T (p.Gly1008=)
c.2129-641C>T (n.2129-641C>T)
n.3097C>T
n.3305C>T
c.2514C>T (p.Gly838=)
c.1539C>T (p.Gly513=)
c.2253C>T (p.Gly751=)
c.3231C>T (p.Gly1077=)
n.3049C>T
n.3257C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434960A>CCA344045460CRB1c.3097A>C (p.Thr1033Pro)
c.1978A>C (p.Thr660Pro)
c.1240A>C (p.Thr414Pro)
c.2761A>C (p.Thr921Pro)
c.3025A>C (p.Thr1009Pro)
c.2129-640A>C (n.2129-640A>C)
n.3098A>C
n.3306A>C
c.2515A>C (p.Thr839Pro)
c.1540A>C (p.Thr514Pro)
c.2254A>C (p.Thr752Pro)
c.3232A>C (p.Thr1078Pro)
n.3050A>C
n.3258A>C
1g.197434960A>GCA344045464CRB1c.3097A>G (p.Thr1033Ala)
c.1978A>G (p.Thr660Ala)
c.1240A>G (p.Thr414Ala)
c.2761A>G (p.Thr921Ala)
c.3025A>G (p.Thr1009Ala)
c.2129-640A>G (n.2129-640A>G)
n.3098A>G
n.3306A>G
c.2515A>G (p.Thr839Ala)
c.1540A>G (p.Thr514Ala)
c.2254A>G (p.Thr752Ala)
c.3232A>G (p.Thr1078Ala)
n.3050A>G
n.3258A>G
1g.197434960A>TCA344045469CRB1c.3097A>T (p.Thr1033Ser)
c.1978A>T (p.Thr660Ser)
c.1240A>T (p.Thr414Ser)
c.2761A>T (p.Thr921Ser)
c.3025A>T (p.Thr1009Ser)
c.2129-640A>T (n.2129-640A>T)
n.3098A>T
n.3306A>T
c.2515A>T (p.Thr839Ser)
c.1540A>T (p.Thr514Ser)
c.2254A>T (p.Thr752Ser)
c.3232A>T (p.Thr1078Ser)
n.3050A>T
n.3258A>T
1g.197434961C>ACA344045475CRB1c.3098C>A (p.Thr1033Lys)
c.1979C>A (p.Thr660Lys)
c.1241C>A (p.Thr414Lys)
c.2762C>A (p.Thr921Lys)
c.3026C>A (p.Thr1009Lys)
c.2129-639C>A (n.2129-639C>A)
n.3099C>A
n.3307C>A
c.2516C>A (p.Thr839Lys)
c.1541C>A (p.Thr514Lys)
c.2255C>A (p.Thr752Lys)
c.3233C>A (p.Thr1078Lys)
n.3051C>A
n.3259C>A
1g.197434961C=CA1218068735CRB1c.3098C= (p.Thr1033=)
c.1979C= (p.Thr660=)
c.1241C= (p.Thr414=)
c.2762C= (p.Thr921=)
c.3026C= (p.Thr1009=)
c.2129-639C= (n.2129-639C=)
n.3099C=
n.3307C=
c.2516C= (p.Thr839=)
c.1541C= (p.Thr514=)
c.2255C= (p.Thr752=)
c.3233C= (p.Thr1078=)
n.3051C=
n.3259C=
1g.197434961C>GCA344045476CRB1c.3098C>G (p.Thr1033Arg)
c.1979C>G (p.Thr660Arg)
c.1241C>G (p.Thr414Arg)
c.2762C>G (p.Thr921Arg)
c.3026C>G (p.Thr1009Arg)
c.2129-639C>G (n.2129-639C>G)
n.3099C>G
n.3307C>G
c.2516C>G (p.Thr839Arg)
c.1541C>G (p.Thr514Arg)
c.2255C>G (p.Thr752Arg)
c.3233C>G (p.Thr1078Arg)
n.3051C>G
n.3259C>G
1g.197434961C>TCA1312274CRB1c.3098C>T (p.Thr1033Ile)
c.1979C>T (p.Thr660Ile)
c.1241C>T (p.Thr414Ile)
c.2762C>T (p.Thr921Ile)
c.3026C>T (p.Thr1009Ile)
c.2129-639C>T (n.2129-639C>T)
n.3099C>T
n.3307C>T
c.2516C>T (p.Thr839Ile)
c.1541C>T (p.Thr514Ile)
c.2255C>T (p.Thr752Ile)
c.3233C>T (p.Thr1078Ile)
n.3051C>T
n.3259C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.197434962A>CCA422808794CRB1c.3099A>C (p.Thr1033=)
c.1980A>C (p.Thr660=)
c.1242A>C (p.Thr414=)
c.2763A>C (p.Thr921=)
c.3027A>C (p.Thr1009=)
c.2129-638A>C (n.2129-638A>C)
n.3100A>C
n.3308A>C
c.2517A>C (p.Thr839=)
c.1542A>C (p.Thr514=)
c.2256A>C (p.Thr752=)
c.3234A>C (p.Thr1078=)
n.3052A>C
n.3260A>C
 dbSNP
1g.197434962A>GCA422808795CRB1c.3099A>G (p.Thr1033=)
c.1980A>G (p.Thr660=)
c.1242A>G (p.Thr414=)
c.2763A>G (p.Thr921=)
c.3027A>G (p.Thr1009=)
c.2129-638A>G (n.2129-638A>G)
n.3100A>G
n.3308A>G
c.2517A>G (p.Thr839=)
c.1542A>G (p.Thr514=)
c.2256A>G (p.Thr752=)
c.3234A>G (p.Thr1078=)
n.3052A>G
n.3260A>G
 ClinVar dbSNP gnomAD v4
1g.197434962A>TCA422808796CRB1c.3099A>T (p.Thr1033=)
c.1980A>T (p.Thr660=)
c.1242A>T (p.Thr414=)
c.2763A>T (p.Thr921=)
c.3027A>T (p.Thr1009=)
c.2129-638A>T (n.2129-638A>T)
n.3100A>T
n.3308A>T
c.2517A>T (p.Thr839=)
c.1542A>T (p.Thr514=)
c.2256A>T (p.Thr752=)
c.3234A>T (p.Thr1078=)
n.3052A>T
n.3260A>T
 gnomAD v4
1g.197434963T>ACA344045477CRB1c.3100T>A (p.Trp1034Arg)
c.1981T>A (p.Trp661Arg)
c.1243T>A (p.Trp415Arg)
c.2764T>A (p.Trp922Arg)
c.3028T>A (p.Trp1010Arg)
c.2129-637T>A (n.2129-637T>A)
n.3101T>A
n.3309T>A
c.2518T>A (p.Trp840Arg)
c.1543T>A (p.Trp515Arg)
c.2257T>A (p.Trp753Arg)
c.3235T>A (p.Trp1079Arg)
n.3053T>A
n.3261T>A
1g.197434963T>CCA344045480CRB1c.3100T>C (p.Trp1034Arg)
c.1981T>C (p.Trp661Arg)
c.1243T>C (p.Trp415Arg)
c.2764T>C (p.Trp922Arg)
c.3028T>C (p.Trp1010Arg)
c.2129-637T>C (n.2129-637T>C)
n.3101T>C
n.3309T>C
c.2518T>C (p.Trp840Arg)
c.1543T>C (p.Trp515Arg)
c.2257T>C (p.Trp753Arg)
c.3235T>C (p.Trp1079Arg)
n.3053T>C
n.3261T>C
 ClinVar dbSNP
1g.197434963T>GCA344045484CRB1c.3100T>G (p.Trp1034Gly)
c.1981T>G (p.Trp661Gly)
c.1243T>G (p.Trp415Gly)
c.2764T>G (p.Trp922Gly)
c.3028T>G (p.Trp1010Gly)
c.2129-637T>G (n.2129-637T>G)
n.3101T>G
n.3309T>G
c.2518T>G (p.Trp840Gly)
c.1543T>G (p.Trp515Gly)
c.2257T>G (p.Trp753Gly)
c.3235T>G (p.Trp1079Gly)
n.3053T>G
n.3261T>G
1g.197434963T=CA1218068736CRB1c.3100T= (p.Trp1034=)
c.1981T= (p.Trp661=)
c.1243T= (p.Trp415=)
c.2764T= (p.Trp922=)
c.3028T= (p.Trp1010=)
c.2129-637T= (n.2129-637T=)
n.3101T=
n.3309T=
c.2518T= (p.Trp840=)
c.1543T= (p.Trp515=)
c.2257T= (p.Trp753=)
c.3235T= (p.Trp1079=)
n.3053T=
n.3261T=
1g.197434964G>ACA344045514CRB1c.3101G>A (p.Trp1034Ter)
c.1982G>A (p.Trp661Ter)
c.1244G>A (p.Trp415Ter)
c.2765G>A (p.Trp922Ter)
c.3029G>A (p.Trp1010Ter)
c.2129-636G>A (n.2129-636G>A)
n.3102G>A
n.3310G>A
c.2519G>A (p.Trp840Ter)
c.1544G>A (p.Trp515Ter)
c.2258G>A (p.Trp753Ter)
c.3236G>A (p.Trp1079Ter)
n.3054G>A
n.3262G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197434964G>CCA344045488CRB1c.3101G>C (p.Trp1034Ser)
c.1982G>C (p.Trp661Ser)
c.1244G>C (p.Trp415Ser)
c.2765G>C (p.Trp922Ser)
c.3029G>C (p.Trp1010Ser)
c.2129-636G>C (n.2129-636G>C)
n.3102G>C
n.3310G>C
c.2519G>C (p.Trp840Ser)
c.1544G>C (p.Trp515Ser)
c.2258G>C (p.Trp753Ser)
c.3236G>C (p.Trp1079Ser)
n.3054G>C
n.3262G>C
1g.197434964G=CA1218068737CRB1c.3101G= (p.Trp1034=)
c.1982G= (p.Trp661=)
c.1244G= (p.Trp415=)
c.2765G= (p.Trp922=)
c.3029G= (p.Trp1010=)
c.2129-636G= (n.2129-636G=)
n.3102G=
n.3310G=
c.2519G= (p.Trp840=)
c.1544G= (p.Trp515=)
c.2258G= (p.Trp753=)
c.3236G= (p.Trp1079=)
n.3054G=
n.3262G=
1g.197434964G>TCA344045491CRB1c.3101G>T (p.Trp1034Leu)
c.1982G>T (p.Trp661Leu)
c.1244G>T (p.Trp415Leu)
c.2765G>T (p.Trp922Leu)
c.3029G>T (p.Trp1010Leu)
c.2129-636G>T (n.2129-636G>T)
n.3102G>T
n.3310G>T
c.2519G>T (p.Trp840Leu)
c.1544G>T (p.Trp515Leu)
c.2258G>T (p.Trp753Leu)
c.3236G>T (p.Trp1079Leu)
n.3054G>T
n.3262G>T
 dbSNP
1g.197434965G>ACA344045516CRB1c.3102G>A (p.Trp1034Ter)
c.1983G>A (p.Trp661Ter)
c.1245G>A (p.Trp415Ter)
c.2766G>A (p.Trp922Ter)
c.3030G>A (p.Trp1010Ter)
c.2129-635G>A (n.2129-635G>A)
n.3103G>A
n.3311G>A
c.2520G>A (p.Trp840Ter)
c.1545G>A (p.Trp515Ter)
c.2259G>A (p.Trp753Ter)
c.3237G>A (p.Trp1079Ter)
n.3055G>A
n.3263G>A
 ClinVar dbSNP COSMIC
1g.197434965G>CCA344045518CRB1c.3102G>C (p.Trp1034Cys)
c.1983G>C (p.Trp661Cys)
c.1245G>C (p.Trp415Cys)
c.2766G>C (p.Trp922Cys)
c.3030G>C (p.Trp1010Cys)
c.2129-635G>C (n.2129-635G>C)
n.3103G>C
n.3311G>C
c.2520G>C (p.Trp840Cys)
c.1545G>C (p.Trp515Cys)
c.2259G>C (p.Trp753Cys)
c.3237G>C (p.Trp1079Cys)
n.3055G>C
n.3263G>C
1g.197434965G>TCA344045523CRB1c.3102G>T (p.Trp1034Cys)
c.1983G>T (p.Trp661Cys)
c.1245G>T (p.Trp415Cys)
c.2766G>T (p.Trp922Cys)
c.3030G>T (p.Trp1010Cys)
c.2129-635G>T (n.2129-635G>T)
n.3103G>T
n.3311G>T
c.2520G>T (p.Trp840Cys)
c.1545G>T (p.Trp515Cys)
c.2259G>T (p.Trp753Cys)
c.3237G>T (p.Trp1079Cys)
n.3055G>T
n.3263G>T
1g.197434966C>ACA344045530CRB1c.3103C>A (p.His1035Asn)
c.1984C>A (p.His662Asn)
c.1246C>A (p.His416Asn)
c.2767C>A (p.His923Asn)
c.3031C>A (p.His1011Asn)
c.2129-634C>A (n.2129-634C>A)
n.3104C>A
n.3312C>A
c.2521C>A (p.His841Asn)
c.1546C>A (p.His516Asn)
c.2260C>A (p.His754Asn)
c.3238C>A (p.His1080Asn)
n.3056C>A
n.3264C>A
1g.197434966C=CA1218068738CRB1c.3103C= (p.His1035=)
c.1984C= (p.His662=)
c.1246C= (p.His416=)
c.2767C= (p.His923=)
c.3031C= (p.His1011=)
c.2129-634C= (n.2129-634C=)
n.3104C=
n.3312C=
c.2521C= (p.His841=)
c.1546C= (p.His516=)
c.2260C= (p.His754=)
c.3238C= (p.His1080=)
n.3056C=
n.3264C=
1g.197434966C>GCA344045554CRB1c.3103C>G (p.His1035Asp)
c.1984C>G (p.His662Asp)
c.1246C>G (p.His416Asp)
c.2767C>G (p.His923Asp)
c.3031C>G (p.His1011Asp)
c.2129-634C>G (n.2129-634C>G)
n.3104C>G
n.3312C>G
c.2521C>G (p.His841Asp)
c.1546C>G (p.His516Asp)
c.2260C>G (p.His754Asp)
c.3238C>G (p.His1080Asp)
n.3056C>G
n.3264C>G
1g.197434966C>TCA1312275CRB1c.3103C>T (p.His1035Tyr)
c.1984C>T (p.His662Tyr)
c.1246C>T (p.His416Tyr)
c.2767C>T (p.His923Tyr)
c.3031C>T (p.His1011Tyr)
c.2129-634C>T (n.2129-634C>T)
n.3104C>T
n.3312C>T
c.2521C>T (p.His841Tyr)
c.1546C>T (p.His516Tyr)
c.2260C>T (p.His754Tyr)
c.3238C>T (p.His1080Tyr)
n.3056C>T
n.3264C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434967A>CCA344045573CRB1c.3104A>C (p.His1035Pro)
c.1985A>C (p.His662Pro)
c.1247A>C (p.His416Pro)
c.2768A>C (p.His923Pro)
c.3032A>C (p.His1011Pro)
c.2129-633A>C (n.2129-633A>C)
n.3105A>C
n.3313A>C
c.2522A>C (p.His841Pro)
c.1547A>C (p.His516Pro)
c.2261A>C (p.His754Pro)
c.3239A>C (p.His1080Pro)
n.3057A>C
n.3265A>C
1g.197434967A>GCA344045576CRB1c.3104A>G (p.His1035Arg)
c.1985A>G (p.His662Arg)
c.1247A>G (p.His416Arg)
c.2768A>G (p.His923Arg)
c.3032A>G (p.His1011Arg)
c.2129-633A>G (n.2129-633A>G)
n.3105A>G
n.3313A>G
c.2522A>G (p.His841Arg)
c.1547A>G (p.His516Arg)
c.2261A>G (p.His754Arg)
c.3239A>G (p.His1080Arg)
n.3057A>G
n.3265A>G
1g.197434967A>TCA344045581CRB1c.3104A>T (p.His1035Leu)
c.1985A>T (p.His662Leu)
c.1247A>T (p.His416Leu)
c.2768A>T (p.His923Leu)
c.3032A>T (p.His1011Leu)
c.2129-633A>T (n.2129-633A>T)
n.3105A>T
n.3313A>T
c.2522A>T (p.His841Leu)
c.1547A>T (p.His516Leu)
c.2261A>T (p.His754Leu)
c.3239A>T (p.His1080Leu)
n.3057A>T
n.3265A>T
1g.197434968C>ACA344045584CRB1c.3105C>A (p.His1035Gln)
c.1986C>A (p.His662Gln)
c.1248C>A (p.His416Gln)
c.2769C>A (p.His923Gln)
c.3033C>A (p.His1011Gln)
c.2129-632C>A (n.2129-632C>A)
n.3106C>A
n.3314C>A
c.2523C>A (p.His841Gln)
c.1548C>A (p.His516Gln)
c.2262C>A (p.His754Gln)
c.3240C>A (p.His1080Gln)
n.3058C>A
n.3266C>A
1g.197434968C=CA1145356366CRB1c.3105C= (p.His1035=)
c.1986C= (p.His662=)
c.1248C= (p.His416=)
c.2769C= (p.His923=)
c.3033C= (p.His1011=)
c.2129-632C= (n.2129-632C=)
n.3106C=
n.3314C=
c.2523C= (p.His841=)
c.1548C= (p.His516=)
c.2262C= (p.His754=)
c.3240C= (p.His1080=)
n.3058C=
n.3266C=
1g.197434968C>GCA344045587CRB1c.3105C>G (p.His1035Gln)
c.1986C>G (p.His662Gln)
c.1248C>G (p.His416Gln)
c.2769C>G (p.His923Gln)
c.3033C>G (p.His1011Gln)
c.2129-632C>G (n.2129-632C>G)
n.3106C>G
n.3314C>G
c.2523C>G (p.His841Gln)
c.1548C>G (p.His516Gln)
c.2262C>G (p.His754Gln)
c.3240C>G (p.His1080Gln)
n.3058C>G
n.3266C>G
1g.197434968C>TCA1312276CRB1c.3105C>T (p.His1035=)
c.1986C>T (p.His662=)
c.1248C>T (p.His416=)
c.2769C>T (p.His923=)
c.3033C>T (p.His1011=)
c.2129-632C>T (n.2129-632C>T)
n.3106C>T
n.3314C>T
c.2523C>T (p.His841=)
c.1548C>T (p.His516=)
c.2262C>T (p.His754=)
c.3240C>T (p.His1080=)
n.3058C>T
n.3266C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434969G>ACA1312277CRB1c.3106G>A (p.Glu1036Lys)
c.1987G>A (p.Glu663Lys)
c.1249G>A (p.Glu417Lys)
c.2770G>A (p.Glu924Lys)
c.3034G>A (p.Glu1012Lys)
c.2129-631G>A (n.2129-631G>A)
n.3107G>A
n.3315G>A
c.2524G>A (p.Glu842Lys)
c.1549G>A (p.Glu517Lys)
c.2263G>A (p.Glu755Lys)
c.3241G>A (p.Glu1081Lys)
n.3059G>A
n.3267G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.197434969G>CCA344045600CRB1c.3106G>C (p.Glu1036Gln)
c.1987G>C (p.Glu663Gln)
c.1249G>C (p.Glu417Gln)
c.2770G>C (p.Glu924Gln)
c.3034G>C (p.Glu1012Gln)
c.2129-631G>C (n.2129-631G>C)
n.3107G>C
n.3315G>C
c.2524G>C (p.Glu842Gln)
c.1549G>C (p.Glu517Gln)
c.2263G>C (p.Glu755Gln)
c.3241G>C (p.Glu1081Gln)
n.3059G>C
n.3267G>C
1g.197434969G=CA1147023661CRB1c.3106G= (p.Glu1036=)
c.1987G= (p.Glu663=)
c.1249G= (p.Glu417=)
c.2770G= (p.Glu924=)
c.3034G= (p.Glu1012=)
c.2129-631G= (n.2129-631G=)
n.3107G=
n.3315G=
c.2524G= (p.Glu842=)
c.1549G= (p.Glu517=)
c.2263G= (p.Glu755=)
c.3241G= (p.Glu1081=)
n.3059G=
n.3267G=
1g.197434969G>TCA344045596CRB1c.3106G>T (p.Glu1036Ter)
c.1987G>T (p.Glu663Ter)
c.1249G>T (p.Glu417Ter)
c.2770G>T (p.Glu924Ter)
c.3034G>T (p.Glu1012Ter)
c.2129-631G>T (n.2129-631G>T)
n.3107G>T
n.3315G>T
c.2524G>T (p.Glu842Ter)
c.1549G>T (p.Glu517Ter)
c.2263G>T (p.Glu755Ter)
c.3241G>T (p.Glu1081Ter)
n.3059G>T
n.3267G>T
 COSMIC
1g.197434970A=CA1148378936CRB1c.3107A= (p.Glu1036=)
c.1988A= (p.Glu663=)
c.1250A= (p.Glu417=)
c.2771A= (p.Glu924=)
c.3035A= (p.Glu1012=)
c.2129-630A= (n.2129-630A=)
n.3108A=
n.3316A=
c.2525A= (p.Glu842=)
c.1550A= (p.Glu517=)
c.2264A= (p.Glu755=)
c.3242A= (p.Glu1081=)
n.3060A=
n.3268A=
1g.197434970A>CCA1312278CRB1c.3107A>C (p.Glu1036Ala)
c.1988A>C (p.Glu663Ala)
c.1250A>C (p.Glu417Ala)
c.2771A>C (p.Glu924Ala)
c.3035A>C (p.Glu1012Ala)
c.2129-630A>C (n.2129-630A>C)
n.3108A>C
n.3316A>C
c.2525A>C (p.Glu842Ala)
c.1550A>C (p.Glu517Ala)
c.2264A>C (p.Glu755Ala)
c.3242A>C (p.Glu1081Ala)
n.3060A>C
n.3268A>C
 dbSNP ExAC gnomAD v2
1g.197434970A>GCA344045628CRB1c.3107A>G (p.Glu1036Gly)
c.1988A>G (p.Glu663Gly)
c.1250A>G (p.Glu417Gly)
c.2771A>G (p.Glu924Gly)
c.3035A>G (p.Glu1012Gly)
c.2129-630A>G (n.2129-630A>G)
n.3108A>G
n.3316A>G
c.2525A>G (p.Glu842Gly)
c.1550A>G (p.Glu517Gly)
c.2264A>G (p.Glu755Gly)
c.3242A>G (p.Glu1081Gly)
n.3060A>G
n.3268A>G
 gnomAD v4
1g.197434970A>TCA344045624CRB1c.3107A>T (p.Glu1036Val)
c.1988A>T (p.Glu663Val)
c.1250A>T (p.Glu417Val)
c.2771A>T (p.Glu924Val)
c.3035A>T (p.Glu1012Val)
c.2129-630A>T (n.2129-630A>T)
n.3108A>T
n.3316A>T
c.2525A>T (p.Glu842Val)
c.1550A>T (p.Glu517Val)
c.2264A>T (p.Glu755Val)
c.3242A>T (p.Glu1081Val)
n.3060A>T
n.3268A>T
1g.197434971A>CCA344045630CRB1c.3108A>C (p.Glu1036Asp)
c.1989A>C (p.Glu663Asp)
c.1251A>C (p.Glu417Asp)
c.2772A>C (p.Glu924Asp)
c.3036A>C (p.Glu1012Asp)
c.2129-629A>C (n.2129-629A>C)
n.3109A>C
n.3317A>C
c.2526A>C (p.Glu842Asp)
c.1551A>C (p.Glu517Asp)
c.2265A>C (p.Glu755Asp)
c.3243A>C (p.Glu1081Asp)
n.3061A>C
n.3269A>C
1g.197434971A>GCA422808808CRB1c.3108A>G (p.Glu1036=)
c.1989A>G (p.Glu663=)
c.1251A>G (p.Glu417=)
c.2772A>G (p.Glu924=)
c.3036A>G (p.Glu1012=)
c.2129-629A>G (n.2129-629A>G)
n.3109A>G
n.3317A>G
c.2526A>G (p.Glu842=)
c.1551A>G (p.Glu517=)
c.2265A>G (p.Glu755=)
c.3243A>G (p.Glu1081=)
n.3061A>G
n.3269A>G
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
1g.197434971A>TCA344045634CRB1c.3108A>T (p.Glu1036Asp)
c.1989A>T (p.Glu663Asp)
c.1251A>T (p.Glu417Asp)
c.2772A>T (p.Glu924Asp)
c.3036A>T (p.Glu1012Asp)
c.2129-629A>T (n.2129-629A>T)
n.3109A>T
n.3317A>T
c.2526A>T (p.Glu842Asp)
c.1551A>T (p.Glu517Asp)
c.2265A>T (p.Glu755Asp)
c.3243A>T (p.Glu1081Asp)
n.3061A>T
n.3269A>T
1g.197434972G>ACA344045650CRB1c.3109G>A (p.Val1037Met)
c.1990G>A (p.Val664Met)
c.1252G>A (p.Val418Met)
c.2773G>A (p.Val925Met)
c.3037G>A (p.Val1013Met)
c.2129-628G>A (n.2129-628G>A)
n.3110G>A
n.3318G>A
c.2527G>A (p.Val843Met)
c.1552G>A (p.Val518Met)
c.2266G>A (p.Val756Met)
c.3244G>A (p.Val1082Met)
n.3062G>A
n.3270G>A
1g.197434972G>CCA344045651CRB1c.3109G>C (p.Val1037Leu)
c.1990G>C (p.Val664Leu)
c.1252G>C (p.Val418Leu)
c.2773G>C (p.Val925Leu)
c.3037G>C (p.Val1013Leu)
c.2129-628G>C (n.2129-628G>C)
n.3110G>C
n.3318G>C
c.2527G>C (p.Val843Leu)
c.1552G>C (p.Val518Leu)
c.2266G>C (p.Val756Leu)
c.3244G>C (p.Val1082Leu)
n.3062G>C
n.3270G>C
1g.197434972G=CA1218068739CRB1c.3109G= (p.Val1037=)
c.1990G= (p.Val664=)
c.1252G= (p.Val418=)
c.2773G= (p.Val925=)
c.3037G= (p.Val1013=)
c.2129-628G= (n.2129-628G=)
n.3110G=
n.3318G=
c.2527G= (p.Val843=)
c.1552G= (p.Val518=)
c.2266G= (p.Val756=)
c.3244G= (p.Val1082=)
n.3062G=
n.3270G=
1g.197434972G>TCA344045655CRB1c.3109G>T (p.Val1037Leu)
c.1990G>T (p.Val664Leu)
c.1252G>T (p.Val418Leu)
c.2773G>T (p.Val925Leu)
c.3037G>T (p.Val1013Leu)
c.2129-628G>T (n.2129-628G>T)
n.3110G>T
n.3318G>T
c.2527G>T (p.Val843Leu)
c.1552G>T (p.Val518Leu)
c.2266G>T (p.Val756Leu)
c.3244G>T (p.Val1082Leu)
n.3062G>T
n.3270G>T
1g.197434973T>ACA344045658CRB1c.3110T>A (p.Val1037Glu)
c.1991T>A (p.Val664Glu)
c.1253T>A (p.Val418Glu)
c.2774T>A (p.Val925Glu)
c.3038T>A (p.Val1013Glu)
c.2129-627T>A (n.2129-627T>A)
n.3111T>A
n.3319T>A
c.2528T>A (p.Val843Glu)
c.1553T>A (p.Val518Glu)
c.2267T>A (p.Val756Glu)
c.3245T>A (p.Val1082Glu)
n.3063T>A
n.3271T>A
1g.197434973T>CCA35907029CRB1c.3110T>C (p.Val1037Ala)
c.1991T>C (p.Val664Ala)
c.1253T>C (p.Val418Ala)
c.2774T>C (p.Val925Ala)
c.3038T>C (p.Val1013Ala)
c.2129-627T>C (n.2129-627T>C)
n.3111T>C
n.3319T>C
c.2528T>C (p.Val843Ala)
c.1553T>C (p.Val518Ala)
c.2267T>C (p.Val756Ala)
c.3245T>C (p.Val1082Ala)
n.3063T>C
n.3271T>C
 dbSNP gnomAD v2 gnomAD v4
1g.197434973T>GCA344045676CRB1c.3110T>G (p.Val1037Gly)
c.1991T>G (p.Val664Gly)
c.1253T>G (p.Val418Gly)
c.2774T>G (p.Val925Gly)
c.3038T>G (p.Val1013Gly)
c.2129-627T>G (n.2129-627T>G)
n.3111T>G
n.3319T>G
c.2528T>G (p.Val843Gly)
c.1553T>G (p.Val518Gly)
c.2267T>G (p.Val756Gly)
c.3245T>G (p.Val1082Gly)
n.3063T>G
n.3271T>G
1g.197434973T=CA1218068740CRB1c.3110T= (p.Val1037=)
c.1991T= (p.Val664=)
c.1253T= (p.Val418=)
c.2774T= (p.Val925=)
c.3038T= (p.Val1013=)
c.2129-627T= (n.2129-627T=)
n.3111T=
n.3319T=
c.2528T= (p.Val843=)
c.1553T= (p.Val518=)
c.2267T= (p.Val756=)
c.3245T= (p.Val1082=)
n.3063T=
n.3271T=
1g.197434973_197435006dupCA1139656480CRB1c.3110_3143dup (p.Ser1049AspfsTer40)
c.1991_2024dup (p.Ser676AspfsTer40)
c.1253_1286dup (p.Ser430AspfsTer40)
c.2774_2807dup (p.Ser937AspfsTer40)
c.3038_3071dup (p.Ser1025AspfsTer40)
c.2129-627_2129-594dup (n.2129-627_2129-594dup)
n.3111_3144dup
n.3319_3352dup
c.2528_2561dup (p.Ser855AspfsTer40)
c.1553_1586dup (p.Ser530AspfsTer40)
c.2267_2300dup (p.Ser768AspfsTer40)
c.3245_3278dup (p.Ser1094AspfsTer40)
n.3063_3096dup
n.3271_3304dup
 ClinVar dbSNP gnomAD v4
1g.197434974G>ACA422808813CRB1c.3111G>A (p.Val1037=)
c.1992G>A (p.Val664=)
c.1254G>A (p.Val418=)
c.2775G>A (p.Val925=)
c.3039G>A (p.Val1013=)
c.2129-626G>A (n.2129-626G>A)
n.3112G>A
n.3320G>A
c.2529G>A (p.Val843=)
c.1554G>A (p.Val518=)
c.2268G>A (p.Val756=)
c.3246G>A (p.Val1082=)
n.3064G>A
n.3272G>A
1g.197434974G>CCA422808814CRB1c.3111G>C (p.Val1037=)
c.1992G>C (p.Val664=)
c.1254G>C (p.Val418=)
c.2775G>C (p.Val925=)
c.3039G>C (p.Val1013=)
c.2129-626G>C (n.2129-626G>C)
n.3112G>C
n.3320G>C
c.2529G>C (p.Val843=)
c.1554G>C (p.Val518=)
c.2268G>C (p.Val756=)
c.3246G>C (p.Val1082=)
n.3064G>C
n.3272G>C
 ClinVar dbSNP
1g.197434974G=CA1218068741CRB1c.3111G= (p.Val1037=)
c.1992G= (p.Val664=)
c.1254G= (p.Val418=)
c.2775G= (p.Val925=)
c.3039G= (p.Val1013=)
c.2129-626G= (n.2129-626G=)
n.3112G=
n.3320G=
c.2529G= (p.Val843=)
c.1554G= (p.Val518=)
c.2268G= (p.Val756=)
c.3246G= (p.Val1082=)
n.3064G=
n.3272G=
1g.197434974G>TCA422808815CRB1c.3111G>T (p.Val1037=)
c.1992G>T (p.Val664=)
c.1254G>T (p.Val418=)
c.2775G>T (p.Val925=)
c.3039G>T (p.Val1013=)
c.2129-626G>T (n.2129-626G>T)
n.3112G>T
n.3320G>T
c.2529G>T (p.Val843=)
c.1554G>T (p.Val518=)
c.2268G>T (p.Val756=)
c.3246G>T (p.Val1082=)
n.3064G>T
n.3272G>T
1g.197434975A>CCA344045678CRB1c.3112A>C (p.Thr1038Pro)
c.1993A>C (p.Thr665Pro)
c.1255A>C (p.Thr419Pro)
c.2776A>C (p.Thr926Pro)
c.3040A>C (p.Thr1014Pro)
c.2129-625A>C (n.2129-625A>C)
n.3113A>C
n.3321A>C
c.2530A>C (p.Thr844Pro)
c.1555A>C (p.Thr519Pro)
c.2269A>C (p.Thr757Pro)
c.3247A>C (p.Thr1083Pro)
n.3065A>C
n.3273A>C
1g.197434975A>GCA344045680CRB1c.3112A>G (p.Thr1038Ala)
c.1993A>G (p.Thr665Ala)
c.1255A>G (p.Thr419Ala)
c.2776A>G (p.Thr926Ala)
c.3040A>G (p.Thr1014Ala)
c.2129-625A>G (n.2129-625A>G)
n.3113A>G
n.3321A>G
c.2530A>G (p.Thr844Ala)
c.1555A>G (p.Thr519Ala)
c.2269A>G (p.Thr757Ala)
c.3247A>G (p.Thr1083Ala)
n.3065A>G
n.3273A>G
1g.197434975A>TCA344045683CRB1c.3112A>T (p.Thr1038Ser)
c.1993A>T (p.Thr665Ser)
c.1255A>T (p.Thr419Ser)
c.2776A>T (p.Thr926Ser)
c.3040A>T (p.Thr1014Ser)
c.2129-625A>T (n.2129-625A>T)
n.3113A>T
n.3321A>T
c.2530A>T (p.Thr844Ser)
c.1555A>T (p.Thr519Ser)
c.2269A>T (p.Thr757Ser)
c.3247A>T (p.Thr1083Ser)
n.3065A>T
n.3273A>T
1g.197434975_197434976dupCA2580061934CRB1c.3112_3113dup (p.Leu1039ProfsTer4)
c.1993_1994dup (p.Leu666ProfsTer4)
c.1255_1256dup (p.Leu420ProfsTer4)
c.2776_2777dup (p.Leu927ProfsTer4)
c.3040_3041dup (p.Leu1015ProfsTer4)
c.2129-625_2129-624dup (n.2129-625_2129-624dup)
n.3113_3114dup
n.3321_3322dup
c.2530_2531dup (p.Leu845ProfsTer4)
c.1555_1556dup (p.Leu520ProfsTer4)
c.2269_2270dup (p.Leu758ProfsTer4)
c.3247_3248dup (p.Leu1084ProfsTer4)
n.3065_3066dup
n.3273_3274dup
 ClinVar gnomAD v4
1g.197434976C>ACA344045689CRB1c.3113C>A (p.Thr1038Asn)
c.1994C>A (p.Thr665Asn)
c.1256C>A (p.Thr419Asn)
c.2777C>A (p.Thr926Asn)
c.3041C>A (p.Thr1014Asn)
c.2129-624C>A (n.2129-624C>A)
n.3114C>A
n.3322C>A
c.2531C>A (p.Thr844Asn)
c.1556C>A (p.Thr519Asn)
c.2270C>A (p.Thr757Asn)
c.3248C>A (p.Thr1083Asn)
n.3066C>A
n.3274C>A
1g.197434976C>GCA344045691CRB1c.3113C>G (p.Thr1038Ser)
c.1994C>G (p.Thr665Ser)
c.1256C>G (p.Thr419Ser)
c.2777C>G (p.Thr926Ser)
c.3041C>G (p.Thr1014Ser)
c.2129-624C>G (n.2129-624C>G)
n.3114C>G
n.3322C>G
c.2531C>G (p.Thr844Ser)
c.1556C>G (p.Thr519Ser)
c.2270C>G (p.Thr757Ser)
c.3248C>G (p.Thr1083Ser)
n.3066C>G
n.3274C>G
 gnomAD v4
1g.197434976C>TCA344045693CRB1c.3113C>T (p.Thr1038Ile)
c.1994C>T (p.Thr665Ile)
c.1256C>T (p.Thr419Ile)
c.2777C>T (p.Thr926Ile)
c.3041C>T (p.Thr1014Ile)
c.2129-624C>T (n.2129-624C>T)
n.3114C>T
n.3322C>T
c.2531C>T (p.Thr844Ile)
c.1556C>T (p.Thr519Ile)
c.2270C>T (p.Thr757Ile)
c.3248C>T (p.Thr1083Ile)
n.3066C>T
n.3274C>T
 COSMIC COSMIC
1g.197434977C>ACA422808820CRB1c.3114C>A (p.Thr1038=)
c.1995C>A (p.Thr665=)
c.1257C>A (p.Thr419=)
c.2778C>A (p.Thr926=)
c.3042C>A (p.Thr1014=)
c.2129-623C>A (n.2129-623C>A)
n.3115C>A
n.3323C>A
c.2532C>A (p.Thr844=)
c.1557C>A (p.Thr519=)
c.2271C>A (p.Thr757=)
c.3249C>A (p.Thr1083=)
n.3067C>A
n.3275C>A
 gnomAD v4
1g.197434977C=CA1218068742CRB1c.3114C= (p.Thr1038=)
c.1995C= (p.Thr665=)
c.1257C= (p.Thr419=)
c.2778C= (p.Thr926=)
c.3042C= (p.Thr1014=)
c.2129-623C= (n.2129-623C=)
n.3115C=
n.3323C=
c.2532C= (p.Thr844=)
c.1557C= (p.Thr519=)
c.2271C= (p.Thr757=)
c.3249C= (p.Thr1083=)
n.3067C=
n.3275C=
1g.197434977C>GCA422808821CRB1c.3114C>G (p.Thr1038=)
c.1995C>G (p.Thr665=)
c.1257C>G (p.Thr419=)
c.2778C>G (p.Thr926=)
c.3042C>G (p.Thr1014=)
c.2129-623C>G (n.2129-623C>G)
n.3115C>G
n.3323C>G
c.2532C>G (p.Thr844=)
c.1557C>G (p.Thr519=)
c.2271C>G (p.Thr757=)
c.3249C>G (p.Thr1083=)
n.3067C>G
n.3275C>G
1g.197434977C>TCA422808822CRB1c.3114C>T (p.Thr1038=)
c.1995C>T (p.Thr665=)
c.1257C>T (p.Thr419=)
c.2778C>T (p.Thr926=)
c.3042C>T (p.Thr1014=)
c.2129-623C>T (n.2129-623C>T)
n.3115C>T
n.3323C>T
c.2532C>T (p.Thr844=)
c.1557C>T (p.Thr519=)
c.2271C>T (p.Thr757=)
c.3249C>T (p.Thr1083=)
n.3067C>T
n.3275C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197434978C>ACA344045708CRB1c.3115C>A (p.Leu1039Ile)
c.1996C>A (p.Leu666Ile)
c.1258C>A (p.Leu420Ile)
c.2779C>A (p.Leu927Ile)
c.3043C>A (p.Leu1015Ile)
c.2129-622C>A (n.2129-622C>A)
n.3116C>A
n.3324C>A
c.2533C>A (p.Leu845Ile)
c.1558C>A (p.Leu520Ile)
c.2272C>A (p.Leu758Ile)
c.3250C>A (p.Leu1084Ile)
n.3068C>A
n.3276C>A
1g.197434978C=CA1218068743CRB1c.3115C= (p.Leu1039=)
c.1996C= (p.Leu666=)
c.1258C= (p.Leu420=)
c.2779C= (p.Leu927=)
c.3043C= (p.Leu1015=)
c.2129-622C= (n.2129-622C=)
n.3116C=
n.3324C=
c.2533C= (p.Leu845=)
c.1558C= (p.Leu520=)
c.2272C= (p.Leu758=)
c.3250C= (p.Leu1084=)
n.3068C=
n.3276C=
1g.197434978C>GCA1312279CRB1c.3115C>G (p.Leu1039Val)
c.1996C>G (p.Leu666Val)
c.1258C>G (p.Leu420Val)
c.2779C>G (p.Leu927Val)
c.3043C>G (p.Leu1015Val)
c.2129-622C>G (n.2129-622C>G)
n.3116C>G
n.3324C>G
c.2533C>G (p.Leu845Val)
c.1558C>G (p.Leu520Val)
c.2272C>G (p.Leu758Val)
c.3250C>G (p.Leu1084Val)
n.3068C>G
n.3276C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434978C>TCA344045704CRB1c.3115C>T (p.Leu1039Phe)
c.1996C>T (p.Leu666Phe)
c.1258C>T (p.Leu420Phe)
c.2779C>T (p.Leu927Phe)
c.3043C>T (p.Leu1015Phe)
c.2129-622C>T (n.2129-622C>T)
n.3116C>T
n.3324C>T
c.2533C>T (p.Leu845Phe)
c.1558C>T (p.Leu520Phe)
c.2272C>T (p.Leu758Phe)
c.3250C>T (p.Leu1084Phe)
n.3068C>T
n.3276C>T
1g.197434979T>ACA344045712CRB1c.3116T>A (p.Leu1039His)
c.1997T>A (p.Leu666His)
c.1259T>A (p.Leu420His)
c.2780T>A (p.Leu927His)
c.3044T>A (p.Leu1015His)
c.2129-621T>A (n.2129-621T>A)
n.3117T>A
n.3325T>A
c.2534T>A (p.Leu845His)
c.1559T>A (p.Leu520His)
c.2273T>A (p.Leu758His)
c.3251T>A (p.Leu1084His)
n.3069T>A
n.3277T>A
1g.197434979T>CCA344045717CRB1c.3116T>C (p.Leu1039Pro)
c.1997T>C (p.Leu666Pro)
c.1259T>C (p.Leu420Pro)
c.2780T>C (p.Leu927Pro)
c.3044T>C (p.Leu1015Pro)
c.2129-621T>C (n.2129-621T>C)
n.3117T>C
n.3325T>C
c.2534T>C (p.Leu845Pro)
c.1559T>C (p.Leu520Pro)
c.2273T>C (p.Leu758Pro)
c.3251T>C (p.Leu1084Pro)
n.3069T>C
n.3277T>C
1g.197434979T>GCA344045721CRB1c.3116T>G (p.Leu1039Arg)
c.1997T>G (p.Leu666Arg)
c.1259T>G (p.Leu420Arg)
c.2780T>G (p.Leu927Arg)
c.3044T>G (p.Leu1015Arg)
c.2129-621T>G (n.2129-621T>G)
n.3117T>G
n.3325T>G
c.2534T>G (p.Leu845Arg)
c.1559T>G (p.Leu520Arg)
c.2273T>G (p.Leu758Arg)
c.3251T>G (p.Leu1084Arg)
n.3069T>G
n.3277T>G
1g.197434981delCA422808827CRB1c.3118del (p.Ser1040ProfsTer2)
c.1999del (p.Ser667ProfsTer2)
c.1261del (p.Ser421ProfsTer2)
c.2782del (p.Ser928ProfsTer2)
c.3046del (p.Ser1016ProfsTer2)
c.2129-619del (n.2129-619del)
n.3119del
n.3327del
c.2536del (p.Ser846ProfsTer2)
c.1561del (p.Ser521ProfsTer2)
c.2275del (p.Ser759ProfsTer2)
c.3253del (p.Ser1085ProfsTer2)
n.3071del
n.3279del
 COSMIC
1g.197434980T>ACA422808829CRB1c.3117T>A (p.Leu1039=)
c.1998T>A (p.Leu666=)
c.1260T>A (p.Leu420=)
c.2781T>A (p.Leu927=)
c.3045T>A (p.Leu1015=)
c.2129-620T>A (n.2129-620T>A)
n.3118T>A
n.3326T>A
c.2535T>A (p.Leu845=)
c.1560T>A (p.Leu520=)
c.2274T>A (p.Leu758=)
c.3252T>A (p.Leu1084=)
n.3070T>A
n.3278T>A
 COSMIC COSMIC
1g.197434980T>CCA422808831CRB1c.3117T>C (p.Leu1039=)
c.1998T>C (p.Leu666=)
c.1260T>C (p.Leu420=)
c.2781T>C (p.Leu927=)
c.3045T>C (p.Leu1015=)
c.2129-620T>C (n.2129-620T>C)
n.3118T>C
n.3326T>C
c.2535T>C (p.Leu845=)
c.1560T>C (p.Leu520=)
c.2274T>C (p.Leu758=)
c.3252T>C (p.Leu1084=)
n.3070T>C
n.3278T>C
1g.197434980T>GCA422808832CRB1c.3117T>G (p.Leu1039=)
c.1998T>G (p.Leu666=)
c.1260T>G (p.Leu420=)
c.2781T>G (p.Leu927=)
c.3045T>G (p.Leu1015=)
c.2129-620T>G (n.2129-620T>G)
n.3118T>G
n.3326T>G
c.2535T>G (p.Leu845=)
c.1560T>G (p.Leu520=)
c.2274T>G (p.Leu758=)
c.3252T>G (p.Leu1084=)
n.3070T>G
n.3278T>G
1g.197434981T>ACA344045727CRB1c.3118T>A (p.Ser1040Thr)
c.1999T>A (p.Ser667Thr)
c.1261T>A (p.Ser421Thr)
c.2782T>A (p.Ser928Thr)
c.3046T>A (p.Ser1016Thr)
c.2129-619T>A (n.2129-619T>A)
n.3119T>A
n.3327T>A
c.2536T>A (p.Ser846Thr)
c.1561T>A (p.Ser521Thr)
c.2275T>A (p.Ser759Thr)
c.3253T>A (p.Ser1085Thr)
n.3071T>A
n.3279T>A
 dbSNP gnomAD v2 gnomAD v4
1g.197434981T>CCA344045732CRB1c.3118T>C (p.Ser1040Pro)
c.1999T>C (p.Ser667Pro)
c.1261T>C (p.Ser421Pro)
c.2782T>C (p.Ser928Pro)
c.3046T>C (p.Ser1016Pro)
c.2129-619T>C (n.2129-619T>C)
n.3119T>C
n.3327T>C
c.2536T>C (p.Ser846Pro)
c.1561T>C (p.Ser521Pro)
c.2275T>C (p.Ser759Pro)
c.3253T>C (p.Ser1085Pro)
n.3071T>C
n.3279T>C
1g.197434981T>GCA344045735CRB1c.3118T>G (p.Ser1040Ala)
c.1999T>G (p.Ser667Ala)
c.1261T>G (p.Ser421Ala)
c.2782T>G (p.Ser928Ala)
c.3046T>G (p.Ser1016Ala)
c.2129-619T>G (n.2129-619T>G)
n.3119T>G
n.3327T>G
c.2536T>G (p.Ser846Ala)
c.1561T>G (p.Ser521Ala)
c.2275T>G (p.Ser759Ala)
c.3253T>G (p.Ser1085Ala)
n.3071T>G
n.3279T>G
1g.197434981T=CA1218068744CRB1c.3118T= (p.Ser1040=)
c.1999T= (p.Ser667=)
c.1261T= (p.Ser421=)
c.2782T= (p.Ser928=)
c.3046T= (p.Ser1016=)
c.2129-619T= (n.2129-619T=)
n.3119T=
n.3327T=
c.2536T= (p.Ser846=)
c.1561T= (p.Ser521=)
c.2275T= (p.Ser759=)
c.3253T= (p.Ser1085=)
n.3071T=
n.3279T=

Number of alleles fetched