Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197434767_197434779delCA2606719373CRB1c.2904_2916del (p.Ile969SerfsTer15)
c.1785_1797del (p.Ile596SerfsTer15)
c.1047_1059del (p.Ile350SerfsTer15)
c.2568_2580del (p.Ile857SerfsTer15)
c.2832_2844del (p.Ile945SerfsTer15)
c.2129-833_2129-821del (n.2129-833_2129-821del)
n.2905_2917del
n.3113_3125del
c.2322_2334del (p.Ile775SerfsTer15)
c.1347_1359del (p.Ile450SerfsTer15)
c.2061_2073del (p.Ile688SerfsTer15)
c.3039_3051del (p.Ile1014SerfsTer15)
n.2857_2869del
n.3065_3077del
 gnomAD v3 gnomAD v4
1g.197434769T>ACA344043423CRB1c.2906T>A (p.Ile969Asn)
c.1787T>A (p.Ile596Asn)
c.1049T>A (p.Ile350Asn)
c.2570T>A (p.Ile857Asn)
c.2834T>A (p.Ile945Asn)
c.2129-831T>A (n.2129-831T>A)
n.2907T>A
n.3115T>A
c.2324T>A (p.Ile775Asn)
c.1349T>A (p.Ile450Asn)
c.2063T>A (p.Ile688Asn)
c.3041T>A (p.Ile1014Asn)
n.2859T>A
n.3067T>A
1g.197434769T>CCA344043425CRB1c.2906T>C (p.Ile969Thr)
c.1787T>C (p.Ile596Thr)
c.1049T>C (p.Ile350Thr)
c.2570T>C (p.Ile857Thr)
c.2834T>C (p.Ile945Thr)
c.2129-831T>C (n.2129-831T>C)
n.2907T>C
n.3115T>C
c.2324T>C (p.Ile775Thr)
c.1349T>C (p.Ile450Thr)
c.2063T>C (p.Ile688Thr)
c.3041T>C (p.Ile1014Thr)
n.2859T>C
n.3067T>C
1g.197434769T>GCA344043428CRB1c.2906T>G (p.Ile969Ser)
c.1787T>G (p.Ile596Ser)
c.1049T>G (p.Ile350Ser)
c.2570T>G (p.Ile857Ser)
c.2834T>G (p.Ile945Ser)
c.2129-831T>G (n.2129-831T>G)
n.2907T>G
n.3115T>G
c.2324T>G (p.Ile775Ser)
c.1349T>G (p.Ile450Ser)
c.2063T>G (p.Ile688Ser)
c.3041T>G (p.Ile1014Ser)
n.2859T>G
n.3067T>G
1g.197434770dupCA2649670637CRB1c.2907dup (p.Thr970TyrfsTer28)
c.1788dup (p.Thr597TyrfsTer28)
c.1050dup (p.Thr351TyrfsTer28)
c.2571dup (p.Thr858TyrfsTer28)
c.2835dup (p.Thr946TyrfsTer28)
c.2129-830dup (n.2129-830dup)
n.2908dup
n.3116dup
c.2325dup (p.Thr776TyrfsTer28)
c.1350dup (p.Thr451TyrfsTer28)
c.2064dup (p.Thr689TyrfsTer28)
c.3042dup (p.Thr1015TyrfsTer28)
n.2860dup
n.3068dup
 gnomAD v4
1g.197434770T>ACA422672533CRB1c.2907T>A (p.Ile969=)
c.1788T>A (p.Ile596=)
c.1050T>A (p.Ile350=)
c.2571T>A (p.Ile857=)
c.2835T>A (p.Ile945=)
c.2129-830T>A (n.2129-830T>A)
n.2908T>A
n.3116T>A
c.2325T>A (p.Ile775=)
c.1350T>A (p.Ile450=)
c.2064T>A (p.Ile688=)
c.3042T>A (p.Ile1014=)
n.2860T>A
n.3068T>A
1g.197434770T>CCA422672534CRB1c.2907T>C (p.Ile969=)
c.1788T>C (p.Ile596=)
c.1050T>C (p.Ile350=)
c.2571T>C (p.Ile857=)
c.2835T>C (p.Ile945=)
c.2129-830T>C (n.2129-830T>C)
n.2908T>C
n.3116T>C
c.2325T>C (p.Ile775=)
c.1350T>C (p.Ile450=)
c.2064T>C (p.Ile688=)
c.3042T>C (p.Ile1014=)
n.2860T>C
n.3068T>C
 ClinVar
1g.197434770T>GCA344043432CRB1c.2907T>G (p.Ile969Met)
c.1788T>G (p.Ile596Met)
c.1050T>G (p.Ile350Met)
c.2571T>G (p.Ile857Met)
c.2835T>G (p.Ile945Met)
c.2129-830T>G (n.2129-830T>G)
n.2908T>G
n.3116T>G
c.2325T>G (p.Ile775Met)
c.1350T>G (p.Ile450Met)
c.2064T>G (p.Ile688Met)
c.3042T>G (p.Ile1014Met)
n.2860T>G
n.3068T>G
1g.197434771A=CA1218068659CRB1c.2908A= (p.Thr970=)
c.1789A= (p.Thr597=)
c.1051A= (p.Thr351=)
c.2572A= (p.Thr858=)
c.2836A= (p.Thr946=)
c.2129-829A= (n.2129-829A=)
n.2909A=
n.3117A=
c.2326A= (p.Thr776=)
c.1351A= (p.Thr451=)
c.2065A= (p.Thr689=)
c.3043A= (p.Thr1015=)
n.2861A=
n.3069A=
1g.197434771A>CCA1312244CRB1c.2908A>C (p.Thr970Pro)
c.1789A>C (p.Thr597Pro)
c.1051A>C (p.Thr351Pro)
c.2572A>C (p.Thr858Pro)
c.2836A>C (p.Thr946Pro)
c.2129-829A>C (n.2129-829A>C)
n.2909A>C
n.3117A>C
c.2326A>C (p.Thr776Pro)
c.1351A>C (p.Thr451Pro)
c.2065A>C (p.Thr689Pro)
c.3043A>C (p.Thr1015Pro)
n.2861A>C
n.3069A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434771A>GCA344043441CRB1c.2908A>G (p.Thr970Ala)
c.1789A>G (p.Thr597Ala)
c.1051A>G (p.Thr351Ala)
c.2572A>G (p.Thr858Ala)
c.2836A>G (p.Thr946Ala)
c.2129-829A>G (n.2129-829A>G)
n.2909A>G
n.3117A>G
c.2326A>G (p.Thr776Ala)
c.1351A>G (p.Thr451Ala)
c.2065A>G (p.Thr689Ala)
c.3043A>G (p.Thr1015Ala)
n.2861A>G
n.3069A>G
 COSMIC COSMIC
1g.197434771A>TCA344043439CRB1c.2908A>T (p.Thr970Ser)
c.1789A>T (p.Thr597Ser)
c.1051A>T (p.Thr351Ser)
c.2572A>T (p.Thr858Ser)
c.2836A>T (p.Thr946Ser)
c.2129-829A>T (n.2129-829A>T)
n.2909A>T
n.3117A>T
c.2326A>T (p.Thr776Ser)
c.1351A>T (p.Thr451Ser)
c.2065A>T (p.Thr689Ser)
c.3043A>T (p.Thr1015Ser)
n.2861A>T
n.3069A>T
1g.197434772C>ACA344043443CRB1c.2909C>A (p.Thr970Asn)
c.1790C>A (p.Thr597Asn)
c.1052C>A (p.Thr351Asn)
c.2573C>A (p.Thr858Asn)
c.2837C>A (p.Thr946Asn)
c.2129-828C>A (n.2129-828C>A)
n.2910C>A
n.3118C>A
c.2327C>A (p.Thr776Asn)
c.1352C>A (p.Thr451Asn)
c.2066C>A (p.Thr689Asn)
c.3044C>A (p.Thr1015Asn)
n.2862C>A
n.3070C>A
1g.197434772C=CA1218068660CRB1c.2909C= (p.Thr970=)
c.1790C= (p.Thr597=)
c.1052C= (p.Thr351=)
c.2573C= (p.Thr858=)
c.2837C= (p.Thr946=)
c.2129-828C= (n.2129-828C=)
n.2910C=
n.3118C=
c.2327C= (p.Thr776=)
c.1352C= (p.Thr451=)
c.2066C= (p.Thr689=)
c.3044C= (p.Thr1015=)
n.2862C=
n.3070C=
1g.197434772C>GCA344043456CRB1c.2909C>G (p.Thr970Ser)
c.1790C>G (p.Thr597Ser)
c.1052C>G (p.Thr351Ser)
c.2573C>G (p.Thr858Ser)
c.2837C>G (p.Thr946Ser)
c.2129-828C>G (n.2129-828C>G)
n.2910C>G
n.3118C>G
c.2327C>G (p.Thr776Ser)
c.1352C>G (p.Thr451Ser)
c.2066C>G (p.Thr689Ser)
c.3044C>G (p.Thr1015Ser)
n.2862C>G
n.3070C>G
1g.197434772C>TCA1312245CRB1c.2909C>T (p.Thr970Ile)
c.1790C>T (p.Thr597Ile)
c.1052C>T (p.Thr351Ile)
c.2573C>T (p.Thr858Ile)
c.2837C>T (p.Thr946Ile)
c.2129-828C>T (n.2129-828C>T)
n.2910C>T
n.3118C>T
c.2327C>T (p.Thr776Ile)
c.1352C>T (p.Thr451Ile)
c.2066C>T (p.Thr689Ile)
c.3044C>T (p.Thr1015Ile)
n.2862C>T
n.3070C>T
 ClinVar dbSNP ExAC gnomAD v2
1g.197434773C>ACA422672535CRB1c.2910C>A (p.Thr970=)
c.1791C>A (p.Thr597=)
c.1053C>A (p.Thr351=)
c.2574C>A (p.Thr858=)
c.2838C>A (p.Thr946=)
c.2129-827C>A (n.2129-827C>A)
n.2911C>A
n.3119C>A
c.2328C>A (p.Thr776=)
c.1353C>A (p.Thr451=)
c.2067C>A (p.Thr689=)
c.3045C>A (p.Thr1015=)
n.2863C>A
n.3071C>A
1g.197434773C>GCA422672536CRB1c.2910C>G (p.Thr970=)
c.1791C>G (p.Thr597=)
c.1053C>G (p.Thr351=)
c.2574C>G (p.Thr858=)
c.2838C>G (p.Thr946=)
c.2129-827C>G (n.2129-827C>G)
n.2911C>G
n.3119C>G
c.2328C>G (p.Thr776=)
c.1353C>G (p.Thr451=)
c.2067C>G (p.Thr689=)
c.3045C>G (p.Thr1015=)
n.2863C>G
n.3071C>G
1g.197434773C>TCA422672537CRB1c.2910C>T (p.Thr970=)
c.1791C>T (p.Thr597=)
c.1053C>T (p.Thr351=)
c.2574C>T (p.Thr858=)
c.2838C>T (p.Thr946=)
c.2129-827C>T (n.2129-827C>T)
n.2911C>T
n.3119C>T
c.2328C>T (p.Thr776=)
c.1353C>T (p.Thr451=)
c.2067C>T (p.Thr689=)
c.3045C>T (p.Thr1015=)
n.2863C>T
n.3071C>T
1g.197434774A>CCA422672538CRB1c.2911A>C (p.Arg971=)
c.1792A>C (p.Arg598=)
c.1054A>C (p.Arg352=)
c.2575A>C (p.Arg859=)
c.2839A>C (p.Arg947=)
c.2129-826A>C (n.2129-826A>C)
n.2912A>C
n.3120A>C
c.2329A>C (p.Arg777=)
c.1354A>C (p.Arg452=)
c.2068A>C (p.Arg690=)
c.3046A>C (p.Arg1016=)
n.2864A>C
n.3072A>C
1g.197434774A>GCA344043463CRB1c.2911A>G (p.Arg971Gly)
c.1792A>G (p.Arg598Gly)
c.1054A>G (p.Arg352Gly)
c.2575A>G (p.Arg859Gly)
c.2839A>G (p.Arg947Gly)
c.2129-826A>G (n.2129-826A>G)
n.2912A>G
n.3120A>G
c.2329A>G (p.Arg777Gly)
c.1354A>G (p.Arg452Gly)
c.2068A>G (p.Arg690Gly)
c.3046A>G (p.Arg1016Gly)
n.2864A>G
n.3072A>G
 gnomAD v4
1g.197434774A>TCA344043468CRB1c.2911A>T (p.Arg971Ter)
c.1792A>T (p.Arg598Ter)
c.1054A>T (p.Arg352Ter)
c.2575A>T (p.Arg859Ter)
c.2839A>T (p.Arg947Ter)
c.2129-826A>T (n.2129-826A>T)
n.2912A>T
n.3120A>T
c.2329A>T (p.Arg777Ter)
c.1354A>T (p.Arg452Ter)
c.2068A>T (p.Arg690Ter)
c.3046A>T (p.Arg1016Ter)
n.2864A>T
n.3072A>T
1g.197434775G>ACA344043472CRB1c.2912G>A (p.Arg971Lys)
c.1793G>A (p.Arg598Lys)
c.1055G>A (p.Arg352Lys)
c.2576G>A (p.Arg859Lys)
c.2840G>A (p.Arg947Lys)
c.2129-825G>A (n.2129-825G>A)
n.2913G>A
n.3121G>A
c.2330G>A (p.Arg777Lys)
c.1355G>A (p.Arg452Lys)
c.2069G>A (p.Arg690Lys)
c.3047G>A (p.Arg1016Lys)
n.2865G>A
n.3073G>A
 dbSNP
1g.197434775G>CCA344043473CRB1c.2912G>C (p.Arg971Thr)
c.1793G>C (p.Arg598Thr)
c.1055G>C (p.Arg352Thr)
c.2576G>C (p.Arg859Thr)
c.2840G>C (p.Arg947Thr)
c.2129-825G>C (n.2129-825G>C)
n.2913G>C
n.3121G>C
c.2330G>C (p.Arg777Thr)
c.1355G>C (p.Arg452Thr)
c.2069G>C (p.Arg690Thr)
c.3047G>C (p.Arg1016Thr)
n.2865G>C
n.3073G>C
1g.197434775G=CA1218068661CRB1c.2912G= (p.Arg971=)
c.1793G= (p.Arg598=)
c.1055G= (p.Arg352=)
c.2576G= (p.Arg859=)
c.2840G= (p.Arg947=)
c.2129-825G= (n.2129-825G=)
n.2913G=
n.3121G=
c.2330G= (p.Arg777=)
c.1355G= (p.Arg452=)
c.2069G= (p.Arg690=)
c.3047G= (p.Arg1016=)
n.2865G=
n.3073G=
1g.197434775G>TCA344043474CRB1c.2912G>T (p.Arg971Ile)
c.1793G>T (p.Arg598Ile)
c.1055G>T (p.Arg352Ile)
c.2576G>T (p.Arg859Ile)
c.2840G>T (p.Arg947Ile)
c.2129-825G>T (n.2129-825G>T)
n.2913G>T
n.3121G>T
c.2330G>T (p.Arg777Ile)
c.1355G>T (p.Arg452Ile)
c.2069G>T (p.Arg690Ile)
c.3047G>T (p.Arg1016Ile)
n.2865G>T
n.3073G>T
1g.197434776A>CCA344043475CRB1c.2913A>C (p.Arg971Ser)
c.1794A>C (p.Arg598Ser)
c.1056A>C (p.Arg352Ser)
c.2577A>C (p.Arg859Ser)
c.2841A>C (p.Arg947Ser)
c.2129-824A>C (n.2129-824A>C)
n.2914A>C
n.3122A>C
c.2331A>C (p.Arg777Ser)
c.1356A>C (p.Arg452Ser)
c.2070A>C (p.Arg690Ser)
c.3048A>C (p.Arg1016Ser)
n.2866A>C
n.3074A>C
1g.197434776A>GCA422672539CRB1c.2913A>G (p.Arg971=)
c.1794A>G (p.Arg598=)
c.1056A>G (p.Arg352=)
c.2577A>G (p.Arg859=)
c.2841A>G (p.Arg947=)
c.2129-824A>G (n.2129-824A>G)
n.2914A>G
n.3122A>G
c.2331A>G (p.Arg777=)
c.1356A>G (p.Arg452=)
c.2070A>G (p.Arg690=)
c.3048A>G (p.Arg1016=)
n.2866A>G
n.3074A>G
1g.197434776A>TCA344043476CRB1c.2913A>T (p.Arg971Ser)
c.1794A>T (p.Arg598Ser)
c.1056A>T (p.Arg352Ser)
c.2577A>T (p.Arg859Ser)
c.2841A>T (p.Arg947Ser)
c.2129-824A>T (n.2129-824A>T)
n.2914A>T
n.3122A>T
c.2331A>T (p.Arg777Ser)
c.1356A>T (p.Arg452Ser)
c.2070A>T (p.Arg690Ser)
c.3048A>T (p.Arg1016Ser)
n.2866A>T
n.3074A>T
1g.197434777G>ACA344043487CRB1c.2914G>A (p.Glu972Lys)
c.1795G>A (p.Glu599Lys)
c.1057G>A (p.Glu353Lys)
c.2578G>A (p.Glu860Lys)
c.2842G>A (p.Glu948Lys)
c.2129-823G>A (n.2129-823G>A)
n.2915G>A
n.3123G>A
c.2332G>A (p.Glu778Lys)
c.1357G>A (p.Glu453Lys)
c.2071G>A (p.Glu691Lys)
c.3049G>A (p.Glu1017Lys)
n.2867G>A
n.3075G>A
1g.197434777G>CCA344043489CRB1c.2914G>C (p.Glu972Gln)
c.1795G>C (p.Glu599Gln)
c.1057G>C (p.Glu353Gln)
c.2578G>C (p.Glu860Gln)
c.2842G>C (p.Glu948Gln)
c.2129-823G>C (n.2129-823G>C)
n.2915G>C
n.3123G>C
c.2332G>C (p.Glu778Gln)
c.1357G>C (p.Glu453Gln)
c.2071G>C (p.Glu691Gln)
c.3049G>C (p.Glu1017Gln)
n.2867G>C
n.3075G>C
 ClinVar dbSNP
1g.197434777G=CA1218068662CRB1c.2914G= (p.Glu972=)
c.1795G= (p.Glu599=)
c.1057G= (p.Glu353=)
c.2578G= (p.Glu860=)
c.2842G= (p.Glu948=)
c.2129-823G= (n.2129-823G=)
n.2915G=
n.3123G=
c.2332G= (p.Glu778=)
c.1357G= (p.Glu453=)
c.2071G= (p.Glu691=)
c.3049G= (p.Glu1017=)
n.2867G=
n.3075G=
1g.197434777G>TCA344043483CRB1c.2914G>T (p.Glu972Ter)
c.1795G>T (p.Glu599Ter)
c.1057G>T (p.Glu353Ter)
c.2578G>T (p.Glu860Ter)
c.2842G>T (p.Glu948Ter)
c.2129-823G>T (n.2129-823G>T)
n.2915G>T
n.3123G>T
c.2332G>T (p.Glu778Ter)
c.1357G>T (p.Glu453Ter)
c.2071G>T (p.Glu691Ter)
c.3049G>T (p.Glu1017Ter)
n.2867G>T
n.3075G>T
 ClinVar dbSNP COSMIC
1g.197434778A>CCA344043494CRB1c.2915A>C (p.Glu972Ala)
c.1796A>C (p.Glu599Ala)
c.1058A>C (p.Glu353Ala)
c.2579A>C (p.Glu860Ala)
c.2843A>C (p.Glu948Ala)
c.2129-822A>C (n.2129-822A>C)
n.2916A>C
n.3124A>C
c.2333A>C (p.Glu778Ala)
c.1358A>C (p.Glu453Ala)
c.2072A>C (p.Glu691Ala)
c.3050A>C (p.Glu1017Ala)
n.2868A>C
n.3076A>C
1g.197434778A>GCA344043499CRB1c.2915A>G (p.Glu972Gly)
c.1796A>G (p.Glu599Gly)
c.1058A>G (p.Glu353Gly)
c.2579A>G (p.Glu860Gly)
c.2843A>G (p.Glu948Gly)
c.2129-822A>G (n.2129-822A>G)
n.2916A>G
n.3124A>G
c.2333A>G (p.Glu778Gly)
c.1358A>G (p.Glu453Gly)
c.2072A>G (p.Glu691Gly)
c.3050A>G (p.Glu1017Gly)
n.2868A>G
n.3076A>G
 gnomAD v4 COSMIC
1g.197434778A>TCA344043501CRB1c.2915A>T (p.Glu972Val)
c.1796A>T (p.Glu599Val)
c.1058A>T (p.Glu353Val)
c.2579A>T (p.Glu860Val)
c.2843A>T (p.Glu948Val)
c.2129-822A>T (n.2129-822A>T)
n.2916A>T
n.3124A>T
c.2333A>T (p.Glu778Val)
c.1358A>T (p.Glu453Val)
c.2072A>T (p.Glu691Val)
c.3050A>T (p.Glu1017Val)
n.2868A>T
n.3076A>T
1g.197434779A=CA1218068663CRB1c.2916A= (p.Glu972=)
c.1797A= (p.Glu599=)
c.1059A= (p.Glu353=)
c.2580A= (p.Glu860=)
c.2844A= (p.Glu948=)
c.2129-821A= (n.2129-821A=)
n.2917A=
n.3125A=
c.2334A= (p.Glu778=)
c.1359A= (p.Glu453=)
c.2073A= (p.Glu691=)
c.3051A= (p.Glu1017=)
n.2869A=
n.3077A=
1g.197434779A>CCA344043504CRB1c.2916A>C (p.Glu972Asp)
c.1797A>C (p.Glu599Asp)
c.1059A>C (p.Glu353Asp)
c.2580A>C (p.Glu860Asp)
c.2844A>C (p.Glu948Asp)
c.2129-821A>C (n.2129-821A>C)
n.2917A>C
n.3125A>C
c.2334A>C (p.Glu778Asp)
c.1359A>C (p.Glu453Asp)
c.2073A>C (p.Glu691Asp)
c.3051A>C (p.Glu1017Asp)
n.2869A>C
n.3077A>C
1g.197434779A>GCA422672540CRB1c.2916A>G (p.Glu972=)
c.1797A>G (p.Glu599=)
c.1059A>G (p.Glu353=)
c.2580A>G (p.Glu860=)
c.2844A>G (p.Glu948=)
c.2129-821A>G (n.2129-821A>G)
n.2917A>G
n.3125A>G
c.2334A>G (p.Glu778=)
c.1359A>G (p.Glu453=)
c.2073A>G (p.Glu691=)
c.3051A>G (p.Glu1017=)
n.2869A>G
n.3077A>G
 dbSNP
1g.197434779A>TCA344043506CRB1c.2916A>T (p.Glu972Asp)
c.1797A>T (p.Glu599Asp)
c.1059A>T (p.Glu353Asp)
c.2580A>T (p.Glu860Asp)
c.2844A>T (p.Glu948Asp)
c.2129-821A>T (n.2129-821A>T)
n.2917A>T
n.3125A>T
c.2334A>T (p.Glu778Asp)
c.1359A>T (p.Glu453Asp)
c.2073A>T (p.Glu691Asp)
c.3051A>T (p.Glu1017Asp)
n.2869A>T
n.3077A>T
1g.197434780C>ACA344043510CRB1c.2917C>A (p.Leu973Ile)
c.1798C>A (p.Leu600Ile)
c.1060C>A (p.Leu354Ile)
c.2581C>A (p.Leu861Ile)
c.2845C>A (p.Leu949Ile)
c.2129-820C>A (n.2129-820C>A)
n.2918C>A
n.3126C>A
c.2335C>A (p.Leu779Ile)
c.1360C>A (p.Leu454Ile)
c.2074C>A (p.Leu692Ile)
c.3052C>A (p.Leu1018Ile)
n.2870C>A
n.3078C>A
 gnomAD v4
1g.197434780C=CA1218068664CRB1c.2917C= (p.Leu973=)
c.1798C= (p.Leu600=)
c.1060C= (p.Leu354=)
c.2581C= (p.Leu861=)
c.2845C= (p.Leu949=)
c.2129-820C= (n.2129-820C=)
n.2918C=
n.3126C=
c.2335C= (p.Leu779=)
c.1360C= (p.Leu454=)
c.2074C= (p.Leu692=)
c.3052C= (p.Leu1018=)
n.2870C=
n.3078C=
1g.197434780C>GCA10608724CRB1c.2917C>G (p.Leu973Val)
c.1798C>G (p.Leu600Val)
c.1060C>G (p.Leu354Val)
c.2581C>G (p.Leu861Val)
c.2845C>G (p.Leu949Val)
c.2129-820C>G (n.2129-820C>G)
n.2918C>G
n.3126C>G
c.2335C>G (p.Leu779Val)
c.1360C>G (p.Leu454Val)
c.2074C>G (p.Leu692Val)
c.3052C>G (p.Leu1018Val)
n.2870C>G
n.3078C>G
 ClinVar dbSNP
1g.197434780C>TCA344043516CRB1c.2917C>T (p.Leu973Phe)
c.1798C>T (p.Leu600Phe)
c.1060C>T (p.Leu354Phe)
c.2581C>T (p.Leu861Phe)
c.2845C>T (p.Leu949Phe)
c.2129-820C>T (n.2129-820C>T)
n.2918C>T
n.3126C>T
c.2335C>T (p.Leu779Phe)
c.1360C>T (p.Leu454Phe)
c.2074C>T (p.Leu692Phe)
c.3052C>T (p.Leu1018Phe)
n.2870C>T
n.3078C>T
1g.197434781T>ACA344043521CRB1c.2918T>A (p.Leu973His)
c.1799T>A (p.Leu600His)
c.1061T>A (p.Leu354His)
c.2582T>A (p.Leu861His)
c.2846T>A (p.Leu949His)
c.2129-819T>A (n.2129-819T>A)
n.2919T>A
n.3127T>A
c.2336T>A (p.Leu779His)
c.1361T>A (p.Leu454His)
c.2075T>A (p.Leu692His)
c.3053T>A (p.Leu1018His)
n.2871T>A
n.3079T>A
1g.197434781T>CCA344043533CRB1c.2918T>C (p.Leu973Pro)
c.1799T>C (p.Leu600Pro)
c.1061T>C (p.Leu354Pro)
c.2582T>C (p.Leu861Pro)
c.2846T>C (p.Leu949Pro)
c.2129-819T>C (n.2129-819T>C)
n.2919T>C
n.3127T>C
c.2336T>C (p.Leu779Pro)
c.1361T>C (p.Leu454Pro)
c.2075T>C (p.Leu692Pro)
c.3053T>C (p.Leu1018Pro)
n.2871T>C
n.3079T>C
1g.197434781T>GCA344043534CRB1c.2918T>G (p.Leu973Arg)
c.1799T>G (p.Leu600Arg)
c.1061T>G (p.Leu354Arg)
c.2582T>G (p.Leu861Arg)
c.2846T>G (p.Leu949Arg)
c.2129-819T>G (n.2129-819T>G)
n.2919T>G
n.3127T>G
c.2336T>G (p.Leu779Arg)
c.1361T>G (p.Leu454Arg)
c.2075T>G (p.Leu692Arg)
c.3053T>G (p.Leu1018Arg)
n.2871T>G
n.3079T>G
1g.197434782C>ACA422672541CRB1c.2919C>A (p.Leu973=)
c.1800C>A (p.Leu600=)
c.1062C>A (p.Leu354=)
c.2583C>A (p.Leu861=)
c.2847C>A (p.Leu949=)
c.2129-818C>A (n.2129-818C>A)
n.2920C>A
n.3128C>A
c.2337C>A (p.Leu779=)
c.1362C>A (p.Leu454=)
c.2076C>A (p.Leu692=)
c.3054C>A (p.Leu1018=)
n.2872C>A
n.3080C>A
 gnomAD v4
1g.197434782C=CA1218068665CRB1c.2919C= (p.Leu973=)
c.1800C= (p.Leu600=)
c.1062C= (p.Leu354=)
c.2583C= (p.Leu861=)
c.2847C= (p.Leu949=)
c.2129-818C= (n.2129-818C=)
n.2920C=
n.3128C=
c.2337C= (p.Leu779=)
c.1362C= (p.Leu454=)
c.2076C= (p.Leu692=)
c.3054C= (p.Leu1018=)
n.2872C=
n.3080C=
1g.197434782C>GCA422672542CRB1c.2919C>G (p.Leu973=)
c.1800C>G (p.Leu600=)
c.1062C>G (p.Leu354=)
c.2583C>G (p.Leu861=)
c.2847C>G (p.Leu949=)
c.2129-818C>G (n.2129-818C>G)
n.2920C>G
n.3128C>G
c.2337C>G (p.Leu779=)
c.1362C>G (p.Leu454=)
c.2076C>G (p.Leu692=)
c.3054C>G (p.Leu1018=)
n.2872C>G
n.3080C>G
1g.197434782C>TCA1312246CRB1c.2919C>T (p.Leu973=)
c.1800C>T (p.Leu600=)
c.1062C>T (p.Leu354=)
c.2583C>T (p.Leu861=)
c.2847C>T (p.Leu949=)
c.2129-818C>T (n.2129-818C>T)
n.2920C>T
n.3128C>T
c.2337C>T (p.Leu779=)
c.1362C>T (p.Leu454=)
c.2076C>T (p.Leu692=)
c.3054C>T (p.Leu1018=)
n.2872C>T
n.3080C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434783A>CCA344043547CRB1c.2920A>C (p.Thr974Pro)
c.1801A>C (p.Thr601Pro)
c.1063A>C (p.Thr355Pro)
c.2584A>C (p.Thr862Pro)
c.2848A>C (p.Thr950Pro)
c.2129-817A>C (n.2129-817A>C)
n.2921A>C
n.3129A>C
c.2338A>C (p.Thr780Pro)
c.1363A>C (p.Thr455Pro)
c.2077A>C (p.Thr693Pro)
c.3055A>C (p.Thr1019Pro)
n.2873A>C
n.3081A>C
1g.197434783A>GCA344043537CRB1c.2920A>G (p.Thr974Ala)
c.1801A>G (p.Thr601Ala)
c.1063A>G (p.Thr355Ala)
c.2584A>G (p.Thr862Ala)
c.2848A>G (p.Thr950Ala)
c.2129-817A>G (n.2129-817A>G)
n.2921A>G
n.3129A>G
c.2338A>G (p.Thr780Ala)
c.1363A>G (p.Thr455Ala)
c.2077A>G (p.Thr693Ala)
c.3055A>G (p.Thr1019Ala)
n.2873A>G
n.3081A>G
1g.197434783A>TCA344043544CRB1c.2920A>T (p.Thr974Ser)
c.1801A>T (p.Thr601Ser)
c.1063A>T (p.Thr355Ser)
c.2584A>T (p.Thr862Ser)
c.2848A>T (p.Thr950Ser)
c.2129-817A>T (n.2129-817A>T)
n.2921A>T
n.3129A>T
c.2338A>T (p.Thr780Ser)
c.1363A>T (p.Thr455Ser)
c.2077A>T (p.Thr693Ser)
c.3055A>T (p.Thr1019Ser)
n.2873A>T
n.3081A>T
1g.197434784C>ACA344043555CRB1c.2921C>A (p.Thr974Asn)
c.1802C>A (p.Thr601Asn)
c.1064C>A (p.Thr355Asn)
c.2585C>A (p.Thr862Asn)
c.2849C>A (p.Thr950Asn)
c.2129-816C>A (n.2129-816C>A)
n.2922C>A
n.3130C>A
c.2339C>A (p.Thr780Asn)
c.1364C>A (p.Thr455Asn)
c.2078C>A (p.Thr693Asn)
c.3056C>A (p.Thr1019Asn)
n.2874C>A
n.3082C>A
 COSMIC
1g.197434784C=CA1147900844CRB1c.2921C= (p.Thr974=)
c.1802C= (p.Thr601=)
c.1064C= (p.Thr355=)
c.2585C= (p.Thr862=)
c.2849C= (p.Thr950=)
c.2129-816C= (n.2129-816C=)
n.2922C=
n.3130C=
c.2339C= (p.Thr780=)
c.1364C= (p.Thr455=)
c.2078C= (p.Thr693=)
c.3056C= (p.Thr1019=)
n.2874C=
n.3082C=
1g.197434784C>GCA1312247CRB1c.2921C>G (p.Thr974Ser)
c.1802C>G (p.Thr601Ser)
c.1064C>G (p.Thr355Ser)
c.2585C>G (p.Thr862Ser)
c.2849C>G (p.Thr950Ser)
c.2129-816C>G (n.2129-816C>G)
n.2922C>G
n.3130C>G
c.2339C>G (p.Thr780Ser)
c.1364C>G (p.Thr455Ser)
c.2078C>G (p.Thr693Ser)
c.3056C>G (p.Thr1019Ser)
n.2874C>G
n.3082C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.197434784C>TCA1312248CRB1c.2921C>T (p.Thr974Ile)
c.1802C>T (p.Thr601Ile)
c.1064C>T (p.Thr355Ile)
c.2585C>T (p.Thr862Ile)
c.2849C>T (p.Thr950Ile)
c.2129-816C>T (n.2129-816C>T)
n.2922C>T
n.3130C>T
c.2339C>T (p.Thr780Ile)
c.1364C>T (p.Thr455Ile)
c.2078C>T (p.Thr693Ile)
c.3056C>T (p.Thr1019Ile)
n.2874C>T
n.3082C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434785C>ACA422672543CRB1c.2922C>A (p.Thr974=)
c.1803C>A (p.Thr601=)
c.1065C>A (p.Thr355=)
c.2586C>A (p.Thr862=)
c.2850C>A (p.Thr950=)
c.2129-815C>A (n.2129-815C>A)
n.2923C>A
n.3131C>A
c.2340C>A (p.Thr780=)
c.1365C>A (p.Thr455=)
c.2079C>A (p.Thr693=)
c.3057C>A (p.Thr1019=)
n.2875C>A
n.3083C>A
1g.197434785C=CA1148399697CRB1c.2922C= (p.Thr974=)
c.1803C= (p.Thr601=)
c.1065C= (p.Thr355=)
c.2586C= (p.Thr862=)
c.2850C= (p.Thr950=)
c.2129-815C= (n.2129-815C=)
n.2923C=
n.3131C=
c.2340C= (p.Thr780=)
c.1365C= (p.Thr455=)
c.2079C= (p.Thr693=)
c.3057C= (p.Thr1019=)
n.2875C=
n.3083C=
1g.197434785C>GCA1312249CRB1c.2922C>G (p.Thr974=)
c.1803C>G (p.Thr601=)
c.1065C>G (p.Thr355=)
c.2586C>G (p.Thr862=)
c.2850C>G (p.Thr950=)
c.2129-815C>G (n.2129-815C>G)
n.2923C>G
n.3131C>G
c.2340C>G (p.Thr780=)
c.1365C>G (p.Thr455=)
c.2079C>G (p.Thr693=)
c.3057C>G (p.Thr1019=)
n.2875C>G
n.3083C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434785C>TCA422672544CRB1c.2922C>T (p.Thr974=)
c.1803C>T (p.Thr601=)
c.1065C>T (p.Thr355=)
c.2586C>T (p.Thr862=)
c.2850C>T (p.Thr950=)
c.2129-815C>T (n.2129-815C>T)
n.2923C>T
n.3131C>T
c.2340C>T (p.Thr780=)
c.1365C>T (p.Thr455=)
c.2079C>T (p.Thr693=)
c.3057C>T (p.Thr1019=)
n.2875C>T
n.3083C>T
1g.197434786A>CCA344043596CRB1c.2923A>C (p.Asn975His)
c.1804A>C (p.Asn602His)
c.1066A>C (p.Asn356His)
c.2587A>C (p.Asn863His)
c.2851A>C (p.Asn951His)
c.2129-814A>C (n.2129-814A>C)
n.2924A>C
n.3132A>C
c.2341A>C (p.Asn781His)
c.1366A>C (p.Asn456His)
c.2080A>C (p.Asn694His)
c.3058A>C (p.Asn1020His)
n.2876A>C
n.3084A>C
1g.197434786A>GCA344043598CRB1c.2923A>G (p.Asn975Asp)
c.1804A>G (p.Asn602Asp)
c.1066A>G (p.Asn356Asp)
c.2587A>G (p.Asn863Asp)
c.2851A>G (p.Asn951Asp)
c.2129-814A>G (n.2129-814A>G)
n.2924A>G
n.3132A>G
c.2341A>G (p.Asn781Asp)
c.1366A>G (p.Asn456Asp)
c.2080A>G (p.Asn694Asp)
c.3058A>G (p.Asn1020Asp)
n.2876A>G
n.3084A>G
1g.197434786A>TCA344043599CRB1c.2923A>T (p.Asn975Tyr)
c.1804A>T (p.Asn602Tyr)
c.1066A>T (p.Asn356Tyr)
c.2587A>T (p.Asn863Tyr)
c.2851A>T (p.Asn951Tyr)
c.2129-814A>T (n.2129-814A>T)
n.2924A>T
n.3132A>T
c.2341A>T (p.Asn781Tyr)
c.1366A>T (p.Asn456Tyr)
c.2080A>T (p.Asn694Tyr)
c.3058A>T (p.Asn1020Tyr)
n.2876A>T
n.3084A>T
1g.197434787A>CCA344043611CRB1c.2924A>C (p.Asn975Thr)
c.1805A>C (p.Asn602Thr)
c.1067A>C (p.Asn356Thr)
c.2588A>C (p.Asn863Thr)
c.2852A>C (p.Asn951Thr)
c.2129-813A>C (n.2129-813A>C)
n.2925A>C
n.3133A>C
c.2342A>C (p.Asn781Thr)
c.1367A>C (p.Asn456Thr)
c.2081A>C (p.Asn694Thr)
c.3059A>C (p.Asn1020Thr)
n.2877A>C
n.3085A>C
1g.197434787A>GCA344043612CRB1c.2924A>G (p.Asn975Ser)
c.1805A>G (p.Asn602Ser)
c.1067A>G (p.Asn356Ser)
c.2588A>G (p.Asn863Ser)
c.2852A>G (p.Asn951Ser)
c.2129-813A>G (n.2129-813A>G)
n.2925A>G
n.3133A>G
c.2342A>G (p.Asn781Ser)
c.1367A>G (p.Asn456Ser)
c.2081A>G (p.Asn694Ser)
c.3059A>G (p.Asn1020Ser)
n.2877A>G
n.3085A>G
 gnomAD v4
1g.197434787A>TCA344043616CRB1c.2924A>T (p.Asn975Ile)
c.1805A>T (p.Asn602Ile)
c.1067A>T (p.Asn356Ile)
c.2588A>T (p.Asn863Ile)
c.2852A>T (p.Asn951Ile)
c.2129-813A>T (n.2129-813A>T)
n.2925A>T
n.3133A>T
c.2342A>T (p.Asn781Ile)
c.1367A>T (p.Asn456Ile)
c.2081A>T (p.Asn694Ile)
c.3059A>T (p.Asn1020Ile)
n.2877A>T
n.3085A>T
1g.197434787_197434788insACACACCCA2747248274CRB1c.2924_2925insACACACC (p.Asn975LysfsTer25)
c.1805_1806insACACACC (p.Asn602LysfsTer25)
c.1067_1068insACACACC (p.Asn356LysfsTer25)
c.2588_2589insACACACC (p.Asn863LysfsTer25)
c.2852_2853insACACACC (p.Asn951LysfsTer25)
c.2129-813_2129-812insACACACC (n.2129-813_2129-812insACACACC)
n.2925_2926insACACACC
n.3133_3134insACACACC
c.2342_2343insACACACC (p.Asn781LysfsTer25)
c.1367_1368insACACACC (p.Asn456LysfsTer25)
c.2081_2082insACACACC (p.Asn694LysfsTer25)
c.3059_3060insACACACC (p.Asn1020LysfsTer25)
n.2877_2878insACACACC
n.3085_3086insACACACC
1g.197434788T>ACA344043620CRB1c.2925T>A (p.Asn975Lys)
c.1806T>A (p.Asn602Lys)
c.1068T>A (p.Asn356Lys)
c.2589T>A (p.Asn863Lys)
c.2853T>A (p.Asn951Lys)
c.2129-812T>A (n.2129-812T>A)
n.2926T>A
n.3134T>A
c.2343T>A (p.Asn781Lys)
c.1368T>A (p.Asn456Lys)
c.2082T>A (p.Asn694Lys)
c.3060T>A (p.Asn1020Lys)
n.2878T>A
n.3086T>A
1g.197434788T>CCA422672545CRB1c.2925T>C (p.Asn975=)
c.1806T>C (p.Asn602=)
c.1068T>C (p.Asn356=)
c.2589T>C (p.Asn863=)
c.2853T>C (p.Asn951=)
c.2129-812T>C (n.2129-812T>C)
n.2926T>C
n.3134T>C
c.2343T>C (p.Asn781=)
c.1368T>C (p.Asn456=)
c.2082T>C (p.Asn694=)
c.3060T>C (p.Asn1020=)
n.2878T>C
n.3086T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197434788T>GCA344043624CRB1c.2925T>G (p.Asn975Lys)
c.1806T>G (p.Asn602Lys)
c.1068T>G (p.Asn356Lys)
c.2589T>G (p.Asn863Lys)
c.2853T>G (p.Asn951Lys)
c.2129-812T>G (n.2129-812T>G)
n.2926T>G
n.3134T>G
c.2343T>G (p.Asn781Lys)
c.1368T>G (p.Asn456Lys)
c.2082T>G (p.Asn694Lys)
c.3060T>G (p.Asn1020Lys)
n.2878T>G
n.3086T>G
1g.197434788T=CA1218068666CRB1c.2925T= (p.Asn975=)
c.1806T= (p.Asn602=)
c.1068T= (p.Asn356=)
c.2589T= (p.Asn863=)
c.2853T= (p.Asn951=)
c.2129-812T= (n.2129-812T=)
n.2926T=
n.3134T=
c.2343T= (p.Asn781=)
c.1368T= (p.Asn456=)
c.2082T= (p.Asn694=)
c.3060T= (p.Asn1020=)
n.2878T=
n.3086T=
1g.197434789A=CA1218068667CRB1c.2926A= (p.Ile976=)
c.1807A= (p.Ile603=)
c.1069A= (p.Ile357=)
c.2590A= (p.Ile864=)
c.2854A= (p.Ile952=)
c.2129-811A= (n.2129-811A=)
n.2927A=
n.3135A=
c.2344A= (p.Ile782=)
c.1369A= (p.Ile457=)
c.2083A= (p.Ile695=)
c.3061A= (p.Ile1021=)
n.2879A=
n.3087A=
1g.197434789A>CCA344043650CRB1c.2926A>C (p.Ile976Leu)
c.1807A>C (p.Ile603Leu)
c.1069A>C (p.Ile357Leu)
c.2590A>C (p.Ile864Leu)
c.2854A>C (p.Ile952Leu)
c.2129-811A>C (n.2129-811A>C)
n.2927A>C
n.3135A>C
c.2344A>C (p.Ile782Leu)
c.1369A>C (p.Ile457Leu)
c.2083A>C (p.Ile695Leu)
c.3061A>C (p.Ile1021Leu)
n.2879A>C
n.3087A>C
1g.197434789A>GCA1312250CRB1c.2926A>G (p.Ile976Val)
c.1807A>G (p.Ile603Val)
c.1069A>G (p.Ile357Val)
c.2590A>G (p.Ile864Val)
c.2854A>G (p.Ile952Val)
c.2129-811A>G (n.2129-811A>G)
n.2927A>G
n.3135A>G
c.2344A>G (p.Ile782Val)
c.1369A>G (p.Ile457Val)
c.2083A>G (p.Ile695Val)
c.3061A>G (p.Ile1021Val)
n.2879A>G
n.3087A>G
 dbSNP ExAC gnomAD v2
1g.197434789A>TCA344043630CRB1c.2926A>T (p.Ile976Phe)
c.1807A>T (p.Ile603Phe)
c.1069A>T (p.Ile357Phe)
c.2590A>T (p.Ile864Phe)
c.2854A>T (p.Ile952Phe)
c.2129-811A>T (n.2129-811A>T)
n.2927A>T
n.3135A>T
c.2344A>T (p.Ile782Phe)
c.1369A>T (p.Ile457Phe)
c.2083A>T (p.Ile695Phe)
c.3061A>T (p.Ile1021Phe)
n.2879A>T
n.3087A>T
1g.197434790T>ACA344043658CRB1c.2927T>A (p.Ile976Asn)
c.1808T>A (p.Ile603Asn)
c.1070T>A (p.Ile357Asn)
c.2591T>A (p.Ile864Asn)
c.2855T>A (p.Ile952Asn)
c.2129-810T>A (n.2129-810T>A)
n.2928T>A
n.3136T>A
c.2345T>A (p.Ile782Asn)
c.1370T>A (p.Ile457Asn)
c.2084T>A (p.Ile695Asn)
c.3062T>A (p.Ile1021Asn)
n.2880T>A
n.3088T>A
1g.197434790T>CCA344043666CRB1c.2927T>C (p.Ile976Thr)
c.1808T>C (p.Ile603Thr)
c.1070T>C (p.Ile357Thr)
c.2591T>C (p.Ile864Thr)
c.2855T>C (p.Ile952Thr)
c.2129-810T>C (n.2129-810T>C)
n.2928T>C
n.3136T>C
c.2345T>C (p.Ile782Thr)
c.1370T>C (p.Ile457Thr)
c.2084T>C (p.Ile695Thr)
c.3062T>C (p.Ile1021Thr)
n.2880T>C
n.3088T>C
 ClinVar dbSNP
1g.197434790T>GCA344043662CRB1c.2927T>G (p.Ile976Ser)
c.1808T>G (p.Ile603Ser)
c.1070T>G (p.Ile357Ser)
c.2591T>G (p.Ile864Ser)
c.2855T>G (p.Ile952Ser)
c.2129-810T>G (n.2129-810T>G)
n.2928T>G
n.3136T>G
c.2345T>G (p.Ile782Ser)
c.1370T>G (p.Ile457Ser)
c.2084T>G (p.Ile695Ser)
c.3062T>G (p.Ile1021Ser)
n.2880T>G
n.3088T>G
1g.197434791C>ACA422672546CRB1c.2928C>A (p.Ile976=)
c.1809C>A (p.Ile603=)
c.1071C>A (p.Ile357=)
c.2592C>A (p.Ile864=)
c.2856C>A (p.Ile952=)
c.2129-809C>A (n.2129-809C>A)
n.2929C>A
n.3137C>A
c.2346C>A (p.Ile782=)
c.1371C>A (p.Ile457=)
c.2085C>A (p.Ile695=)
c.3063C>A (p.Ile1021=)
n.2881C>A
n.3089C>A
1g.197434791C>GCA344043669CRB1c.2928C>G (p.Ile976Met)
c.1809C>G (p.Ile603Met)
c.1071C>G (p.Ile357Met)
c.2592C>G (p.Ile864Met)
c.2856C>G (p.Ile952Met)
c.2129-809C>G (n.2129-809C>G)
n.2929C>G
n.3137C>G
c.2346C>G (p.Ile782Met)
c.1371C>G (p.Ile457Met)
c.2085C>G (p.Ile695Met)
c.3063C>G (p.Ile1021Met)
n.2881C>G
n.3089C>G
1g.197434791C>TCA422672547CRB1c.2928C>T (p.Ile976=)
c.1809C>T (p.Ile603=)
c.1071C>T (p.Ile357=)
c.2592C>T (p.Ile864=)
c.2856C>T (p.Ile952=)
c.2129-809C>T (n.2129-809C>T)
n.2929C>T
n.3137C>T
c.2346C>T (p.Ile782=)
c.1371C>T (p.Ile457=)
c.2085C>T (p.Ile695=)
c.3063C>T (p.Ile1021=)
n.2881C>T
n.3089C>T
 gnomAD v4
1g.197434792A=CA1218068668CRB1c.2929A= (p.Thr977=)
c.1810A= (p.Thr604=)
c.1072A= (p.Thr358=)
c.2593A= (p.Thr865=)
c.2857A= (p.Thr953=)
c.2129-808A= (n.2129-808A=)
n.2930A=
n.3138A=
c.2347A= (p.Thr783=)
c.1372A= (p.Thr458=)
c.2086A= (p.Thr696=)
c.3064A= (p.Thr1022=)
n.2882A=
n.3090A=
1g.197434792A>CCA344043672CRB1c.2929A>C (p.Thr977Pro)
c.1810A>C (p.Thr604Pro)
c.1072A>C (p.Thr358Pro)
c.2593A>C (p.Thr865Pro)
c.2857A>C (p.Thr953Pro)
c.2129-808A>C (n.2129-808A>C)
n.2930A>C
n.3138A>C
c.2347A>C (p.Thr783Pro)
c.1372A>C (p.Thr458Pro)
c.2086A>C (p.Thr696Pro)
c.3064A>C (p.Thr1022Pro)
n.2882A>C
n.3090A>C
1g.197434792A>GCA344043674CRB1c.2929A>G (p.Thr977Ala)
c.1810A>G (p.Thr604Ala)
c.1072A>G (p.Thr358Ala)
c.2593A>G (p.Thr865Ala)
c.2857A>G (p.Thr953Ala)
c.2129-808A>G (n.2129-808A>G)
n.2930A>G
n.3138A>G
c.2347A>G (p.Thr783Ala)
c.1372A>G (p.Thr458Ala)
c.2086A>G (p.Thr696Ala)
c.3064A>G (p.Thr1022Ala)
n.2882A>G
n.3090A>G
 dbSNP gnomAD v2 gnomAD v4
1g.197434792A>TCA344043678CRB1c.2929A>T (p.Thr977Ser)
c.1810A>T (p.Thr604Ser)
c.1072A>T (p.Thr358Ser)
c.2593A>T (p.Thr865Ser)
c.2857A>T (p.Thr953Ser)
c.2129-808A>T (n.2129-808A>T)
n.2930A>T
n.3138A>T
c.2347A>T (p.Thr783Ser)
c.1372A>T (p.Thr458Ser)
c.2086A>T (p.Thr696Ser)
c.3064A>T (p.Thr1022Ser)
n.2882A>T
n.3090A>T
1g.197434793C>ACA344043681CRB1c.2930C>A (p.Thr977Lys)
c.1811C>A (p.Thr604Lys)
c.1073C>A (p.Thr358Lys)
c.2594C>A (p.Thr865Lys)
c.2858C>A (p.Thr953Lys)
c.2129-807C>A (n.2129-807C>A)
n.2931C>A
n.3139C>A
c.2348C>A (p.Thr783Lys)
c.1373C>A (p.Thr458Lys)
c.2087C>A (p.Thr696Lys)
c.3065C>A (p.Thr1022Lys)
n.2883C>A
n.3091C>A
 ClinVar dbSNP gnomAD v4
1g.197434793C=CA1218068669CRB1c.2930C= (p.Thr977=)
c.1811C= (p.Thr604=)
c.1073C= (p.Thr358=)
c.2594C= (p.Thr865=)
c.2858C= (p.Thr953=)
c.2129-807C= (n.2129-807C=)
n.2931C=
n.3139C=
c.2348C= (p.Thr783=)
c.1373C= (p.Thr458=)
c.2087C= (p.Thr696=)
c.3065C= (p.Thr1022=)
n.2883C=
n.3091C=
1g.197434793C>GCA344043685CRB1c.2930C>G (p.Thr977Arg)
c.1811C>G (p.Thr604Arg)
c.1073C>G (p.Thr358Arg)
c.2594C>G (p.Thr865Arg)
c.2858C>G (p.Thr953Arg)
c.2129-807C>G (n.2129-807C>G)
n.2931C>G
n.3139C>G
c.2348C>G (p.Thr783Arg)
c.1373C>G (p.Thr458Arg)
c.2087C>G (p.Thr696Arg)
c.3065C>G (p.Thr1022Arg)
n.2883C>G
n.3091C>G
1g.197434793C>TCA344043687CRB1c.2930C>T (p.Thr977Ile)
c.1811C>T (p.Thr604Ile)
c.1073C>T (p.Thr358Ile)
c.2594C>T (p.Thr865Ile)
c.2858C>T (p.Thr953Ile)
c.2129-807C>T (n.2129-807C>T)
n.2931C>T
n.3139C>T
c.2348C>T (p.Thr783Ile)
c.1373C>T (p.Thr458Ile)
c.2087C>T (p.Thr696Ile)
c.3065C>T (p.Thr1022Ile)
n.2883C>T
n.3091C>T
1g.197434794A=CA1218068670CRB1c.2931A= (p.Thr977=)
c.1812A= (p.Thr604=)
c.1074A= (p.Thr358=)
c.2595A= (p.Thr865=)
c.2859A= (p.Thr953=)
c.2129-806A= (n.2129-806A=)
n.2932A=
n.3140A=
c.2349A= (p.Thr783=)
c.1374A= (p.Thr458=)
c.2088A= (p.Thr696=)
c.3066A= (p.Thr1022=)
n.2884A=
n.3092A=
1g.197434794A>CCA422672548CRB1c.2931A>C (p.Thr977=)
c.1812A>C (p.Thr604=)
c.1074A>C (p.Thr358=)
c.2595A>C (p.Thr865=)
c.2859A>C (p.Thr953=)
c.2129-806A>C (n.2129-806A>C)
n.2932A>C
n.3140A>C
c.2349A>C (p.Thr783=)
c.1374A>C (p.Thr458=)
c.2088A>C (p.Thr696=)
c.3066A>C (p.Thr1022=)
n.2884A>C
n.3092A>C
1g.197434794A>GCA1312251CRB1c.2931A>G (p.Thr977=)
c.1812A>G (p.Thr604=)
c.1074A>G (p.Thr358=)
c.2595A>G (p.Thr865=)
c.2859A>G (p.Thr953=)
c.2129-806A>G (n.2129-806A>G)
n.2932A>G
n.3140A>G
c.2349A>G (p.Thr783=)
c.1374A>G (p.Thr458=)
c.2088A>G (p.Thr696=)
c.3066A>G (p.Thr1022=)
n.2884A>G
n.3092A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434794A>TCA422672549CRB1c.2931A>T (p.Thr977=)
c.1812A>T (p.Thr604=)
c.1074A>T (p.Thr358=)
c.2595A>T (p.Thr865=)
c.2859A>T (p.Thr953=)
c.2129-806A>T (n.2129-806A>T)
n.2932A>T
n.3140A>T
c.2349A>T (p.Thr783=)
c.1374A>T (p.Thr458=)
c.2088A>T (p.Thr696=)
c.3066A>T (p.Thr1022=)
n.2884A>T
n.3092A>T
1g.197434795T>ACA344043695CRB1c.2932T>A (p.Phe978Ile)
c.1813T>A (p.Phe605Ile)
c.1075T>A (p.Phe359Ile)
c.2596T>A (p.Phe866Ile)
c.2860T>A (p.Phe954Ile)
c.2129-805T>A (n.2129-805T>A)
n.2933T>A
n.3141T>A
c.2350T>A (p.Phe784Ile)
c.1375T>A (p.Phe459Ile)
c.2089T>A (p.Phe697Ile)
c.3067T>A (p.Phe1023Ile)
n.2885T>A
n.3093T>A
1g.197434795T>CCA344043698CRB1c.2932T>C (p.Phe978Leu)
c.1813T>C (p.Phe605Leu)
c.1075T>C (p.Phe359Leu)
c.2596T>C (p.Phe866Leu)
c.2860T>C (p.Phe954Leu)
c.2129-805T>C (n.2129-805T>C)
n.2933T>C
n.3141T>C
c.2350T>C (p.Phe784Leu)
c.1375T>C (p.Phe459Leu)
c.2089T>C (p.Phe697Leu)
c.3067T>C (p.Phe1023Leu)
n.2885T>C
n.3093T>C
1g.197434795T>GCA344043703CRB1c.2932T>G (p.Phe978Val)
c.1813T>G (p.Phe605Val)
c.1075T>G (p.Phe359Val)
c.2596T>G (p.Phe866Val)
c.2860T>G (p.Phe954Val)
c.2129-805T>G (n.2129-805T>G)
n.2933T>G
n.3141T>G
c.2350T>G (p.Phe784Val)
c.1375T>G (p.Phe459Val)
c.2089T>G (p.Phe697Val)
c.3067T>G (p.Phe1023Val)
n.2885T>G
n.3093T>G
 gnomAD v4
1g.197434796T>ACA344043707CRB1c.2933T>A (p.Phe978Tyr)
c.1814T>A (p.Phe605Tyr)
c.1076T>A (p.Phe359Tyr)
c.2597T>A (p.Phe866Tyr)
c.2861T>A (p.Phe954Tyr)
c.2129-804T>A (n.2129-804T>A)
n.2934T>A
n.3142T>A
c.2351T>A (p.Phe784Tyr)
c.1376T>A (p.Phe459Tyr)
c.2090T>A (p.Phe697Tyr)
c.3068T>A (p.Phe1023Tyr)
n.2886T>A
n.3094T>A
1g.197434796T>CCA344043705CRB1c.2933T>C (p.Phe978Ser)
c.1814T>C (p.Phe605Ser)
c.1076T>C (p.Phe359Ser)
c.2597T>C (p.Phe866Ser)
c.2861T>C (p.Phe954Ser)
c.2129-804T>C (n.2129-804T>C)
n.2934T>C
n.3142T>C
c.2351T>C (p.Phe784Ser)
c.1376T>C (p.Phe459Ser)
c.2090T>C (p.Phe697Ser)
c.3068T>C (p.Phe1023Ser)
n.2886T>C
n.3094T>C
1g.197434796T>GCA344043704CRB1c.2933T>G (p.Phe978Cys)
c.1814T>G (p.Phe605Cys)
c.1076T>G (p.Phe359Cys)
c.2597T>G (p.Phe866Cys)
c.2861T>G (p.Phe954Cys)
c.2129-804T>G (n.2129-804T>G)
n.2934T>G
n.3142T>G
c.2351T>G (p.Phe784Cys)
c.1376T>G (p.Phe459Cys)
c.2090T>G (p.Phe697Cys)
c.3068T>G (p.Phe1023Cys)
n.2886T>G
n.3094T>G
1g.197434797T>ACA344043711CRB1c.2934T>A (p.Phe978Leu)
c.1815T>A (p.Phe605Leu)
c.1077T>A (p.Phe359Leu)
c.2598T>A (p.Phe866Leu)
c.2862T>A (p.Phe954Leu)
c.2129-803T>A (n.2129-803T>A)
n.2935T>A
n.3143T>A
c.2352T>A (p.Phe784Leu)
c.1377T>A (p.Phe459Leu)
c.2091T>A (p.Phe697Leu)
c.3069T>A (p.Phe1023Leu)
n.2887T>A
n.3095T>A
1g.197434797T>CCA422672550CRB1c.2934T>C (p.Phe978=)
c.1815T>C (p.Phe605=)
c.1077T>C (p.Phe359=)
c.2598T>C (p.Phe866=)
c.2862T>C (p.Phe954=)
c.2129-803T>C (n.2129-803T>C)
n.2935T>C
n.3143T>C
c.2352T>C (p.Phe784=)
c.1377T>C (p.Phe459=)
c.2091T>C (p.Phe697=)
c.3069T>C (p.Phe1023=)
n.2887T>C
n.3095T>C
1g.197434797T>GCA344043713CRB1c.2934T>G (p.Phe978Leu)
c.1815T>G (p.Phe605Leu)
c.1077T>G (p.Phe359Leu)
c.2598T>G (p.Phe866Leu)
c.2862T>G (p.Phe954Leu)
c.2129-803T>G (n.2129-803T>G)
n.2935T>G
n.3143T>G
c.2352T>G (p.Phe784Leu)
c.1377T>G (p.Phe459Leu)
c.2091T>G (p.Phe697Leu)
c.3069T>G (p.Phe1023Leu)
n.2887T>G
n.3095T>G
1g.197434798G>ACA344043724CRB1c.2935G>A (p.Gly979Ser)
c.1816G>A (p.Gly606Ser)
c.1078G>A (p.Gly360Ser)
c.2599G>A (p.Gly867Ser)
c.2863G>A (p.Gly955Ser)
c.2129-802G>A (n.2129-802G>A)
n.2936G>A
n.3144G>A
c.2353G>A (p.Gly785Ser)
c.1378G>A (p.Gly460Ser)
c.2092G>A (p.Gly698Ser)
c.3070G>A (p.Gly1024Ser)
n.2888G>A
n.3096G>A
1g.197434798G>CCA344043729CRB1c.2935G>C (p.Gly979Arg)
c.1816G>C (p.Gly606Arg)
c.1078G>C (p.Gly360Arg)
c.2599G>C (p.Gly867Arg)
c.2863G>C (p.Gly955Arg)
c.2129-802G>C (n.2129-802G>C)
n.2936G>C
n.3144G>C
c.2353G>C (p.Gly785Arg)
c.1378G>C (p.Gly460Arg)
c.2092G>C (p.Gly698Arg)
c.3070G>C (p.Gly1024Arg)
n.2888G>C
n.3096G>C
1g.197434798G>TCA344043734CRB1c.2935G>T (p.Gly979Cys)
c.1816G>T (p.Gly606Cys)
c.1078G>T (p.Gly360Cys)
c.2599G>T (p.Gly867Cys)
c.2863G>T (p.Gly955Cys)
c.2129-802G>T (n.2129-802G>T)
n.2936G>T
n.3144G>T
c.2353G>T (p.Gly785Cys)
c.1378G>T (p.Gly460Cys)
c.2092G>T (p.Gly698Cys)
c.3070G>T (p.Gly1024Cys)
n.2888G>T
n.3096G>T
1g.197434799G>ACA344043740CRB1c.2936G>A (p.Gly979Asp)
c.1817G>A (p.Gly606Asp)
c.1079G>A (p.Gly360Asp)
c.2600G>A (p.Gly867Asp)
c.2864G>A (p.Gly955Asp)
c.2129-801G>A (n.2129-801G>A)
n.2937G>A
n.3145G>A
c.2354G>A (p.Gly785Asp)
c.1379G>A (p.Gly460Asp)
c.2093G>A (p.Gly698Asp)
c.3071G>A (p.Gly1024Asp)
n.2889G>A
n.3097G>A
1g.197434799G>CCA344043743CRB1c.2936G>C (p.Gly979Ala)
c.1817G>C (p.Gly606Ala)
c.1079G>C (p.Gly360Ala)
c.2600G>C (p.Gly867Ala)
c.2864G>C (p.Gly955Ala)
c.2129-801G>C (n.2129-801G>C)
n.2937G>C
n.3145G>C
c.2354G>C (p.Gly785Ala)
c.1379G>C (p.Gly460Ala)
c.2093G>C (p.Gly698Ala)
c.3071G>C (p.Gly1024Ala)
n.2889G>C
n.3097G>C
1g.197434799G>TCA344043749CRB1c.2936G>T (p.Gly979Val)
c.1817G>T (p.Gly606Val)
c.1079G>T (p.Gly360Val)
c.2600G>T (p.Gly867Val)
c.2864G>T (p.Gly955Val)
c.2129-801G>T (n.2129-801G>T)
n.2937G>T
n.3145G>T
c.2354G>T (p.Gly785Val)
c.1379G>T (p.Gly460Val)
c.2093G>T (p.Gly698Val)
c.3071G>T (p.Gly1024Val)
n.2889G>T
n.3097G>T
1g.197434800T>ACA422672554CRB1c.2937T>A (p.Gly979=)
c.1818T>A (p.Gly606=)
c.1080T>A (p.Gly360=)
c.2601T>A (p.Gly867=)
c.2865T>A (p.Gly955=)
c.2129-800T>A (n.2129-800T>A)
n.2938T>A
n.3146T>A
c.2355T>A (p.Gly785=)
c.1380T>A (p.Gly460=)
c.2094T>A (p.Gly698=)
c.3072T>A (p.Gly1024=)
n.2890T>A
n.3098T>A
1g.197434800T>CCA422672553CRB1c.2937T>C (p.Gly979=)
c.1818T>C (p.Gly606=)
c.1080T>C (p.Gly360=)
c.2601T>C (p.Gly867=)
c.2865T>C (p.Gly955=)
c.2129-800T>C (n.2129-800T>C)
n.2938T>C
n.3146T>C
c.2355T>C (p.Gly785=)
c.1380T>C (p.Gly460=)
c.2094T>C (p.Gly698=)
c.3072T>C (p.Gly1024=)
n.2890T>C
n.3098T>C
1g.197434800T>GCA422672552CRB1c.2937T>G (p.Gly979=)
c.1818T>G (p.Gly606=)
c.1080T>G (p.Gly360=)
c.2601T>G (p.Gly867=)
c.2865T>G (p.Gly955=)
c.2129-800T>G (n.2129-800T>G)
n.2938T>G
n.3146T>G
c.2355T>G (p.Gly785=)
c.1380T>G (p.Gly460=)
c.2094T>G (p.Gly698=)
c.3072T>G (p.Gly1024=)
n.2890T>G
n.3098T>G
1g.197434801T>ACA344043754CRB1c.2938T>A (p.Phe980Ile)
c.1819T>A (p.Phe607Ile)
c.1081T>A (p.Phe361Ile)
c.2602T>A (p.Phe868Ile)
c.2866T>A (p.Phe956Ile)
c.2129-799T>A (n.2129-799T>A)
n.2939T>A
n.3147T>A
c.2356T>A (p.Phe786Ile)
c.1381T>A (p.Phe461Ile)
c.2095T>A (p.Phe699Ile)
c.3073T>A (p.Phe1025Ile)
n.2891T>A
n.3099T>A
1g.197434801T>CCA344043758CRB1c.2938T>C (p.Phe980Leu)
c.1819T>C (p.Phe607Leu)
c.1081T>C (p.Phe361Leu)
c.2602T>C (p.Phe868Leu)
c.2866T>C (p.Phe956Leu)
c.2129-799T>C (n.2129-799T>C)
n.2939T>C
n.3147T>C
c.2356T>C (p.Phe786Leu)
c.1381T>C (p.Phe461Leu)
c.2095T>C (p.Phe699Leu)
c.3073T>C (p.Phe1025Leu)
n.2891T>C
n.3099T>C
1g.197434801T>GCA344043762CRB1c.2938T>G (p.Phe980Val)
c.1819T>G (p.Phe607Val)
c.1081T>G (p.Phe361Val)
c.2602T>G (p.Phe868Val)
c.2866T>G (p.Phe956Val)
c.2129-799T>G (n.2129-799T>G)
n.2939T>G
n.3147T>G
c.2356T>G (p.Phe786Val)
c.1381T>G (p.Phe461Val)
c.2095T>G (p.Phe699Val)
c.3073T>G (p.Phe1025Val)
n.2891T>G
n.3099T>G
 dbSNP gnomAD v2 COSMIC COSMIC
1g.197434801T=CA1218068671CRB1c.2938T= (p.Phe980=)
c.1819T= (p.Phe607=)
c.1081T= (p.Phe361=)
c.2602T= (p.Phe868=)
c.2866T= (p.Phe956=)
c.2129-799T= (n.2129-799T=)
n.2939T=
n.3147T=
c.2356T= (p.Phe786=)
c.1381T= (p.Phe461=)
c.2095T= (p.Phe699=)
c.3073T= (p.Phe1025=)
n.2891T=
n.3099T=
1g.197434802T>ACA344043780CRB1c.2939T>A (p.Phe980Tyr)
c.1820T>A (p.Phe607Tyr)
c.1082T>A (p.Phe361Tyr)
c.2603T>A (p.Phe868Tyr)
c.2867T>A (p.Phe956Tyr)
c.2129-798T>A (n.2129-798T>A)
n.2940T>A
n.3148T>A
c.2357T>A (p.Phe786Tyr)
c.1382T>A (p.Phe461Tyr)
c.2096T>A (p.Phe699Tyr)
c.3074T>A (p.Phe1025Tyr)
n.2892T>A
n.3100T>A
 ClinVar dbSNP
1g.197434802T>CCA344043777CRB1c.2939T>C (p.Phe980Ser)
c.1820T>C (p.Phe607Ser)
c.1082T>C (p.Phe361Ser)
c.2603T>C (p.Phe868Ser)
c.2867T>C (p.Phe956Ser)
c.2129-798T>C (n.2129-798T>C)
n.2940T>C
n.3148T>C
c.2357T>C (p.Phe786Ser)
c.1382T>C (p.Phe461Ser)
c.2096T>C (p.Phe699Ser)
c.3074T>C (p.Phe1025Ser)
n.2892T>C
n.3100T>C
1g.197434802T>GCA344043773CRB1c.2939T>G (p.Phe980Cys)
c.1820T>G (p.Phe607Cys)
c.1082T>G (p.Phe361Cys)
c.2603T>G (p.Phe868Cys)
c.2867T>G (p.Phe956Cys)
c.2129-798T>G (n.2129-798T>G)
n.2940T>G
n.3148T>G
c.2357T>G (p.Phe786Cys)
c.1382T>G (p.Phe461Cys)
c.2096T>G (p.Phe699Cys)
c.3074T>G (p.Phe1025Cys)
n.2892T>G
n.3100T>G
 ClinVar dbSNP
1g.197434802T=CA1218068672CRB1c.2939T= (p.Phe980=)
c.1820T= (p.Phe607=)
c.1082T= (p.Phe361=)
c.2603T= (p.Phe868=)
c.2867T= (p.Phe956=)
c.2129-798T= (n.2129-798T=)
n.2940T=
n.3148T=
c.2357T= (p.Phe786=)
c.1382T= (p.Phe461=)
c.2096T= (p.Phe699=)
c.3074T= (p.Phe1025=)
n.2892T=
n.3100T=
1g.197434803C>ACA344043787CRB1c.2940C>A (p.Phe980Leu)
c.1821C>A (p.Phe607Leu)
c.1083C>A (p.Phe361Leu)
c.2604C>A (p.Phe868Leu)
c.2868C>A (p.Phe956Leu)
c.2129-797C>A (n.2129-797C>A)
n.2941C>A
n.3149C>A
c.2358C>A (p.Phe786Leu)
c.1383C>A (p.Phe461Leu)
c.2097C>A (p.Phe699Leu)
c.3075C>A (p.Phe1025Leu)
n.2893C>A
n.3101C>A
1g.197434803C>GCA344043788CRB1c.2940C>G (p.Phe980Leu)
c.1821C>G (p.Phe607Leu)
c.1083C>G (p.Phe361Leu)
c.2604C>G (p.Phe868Leu)
c.2868C>G (p.Phe956Leu)
c.2129-797C>G (n.2129-797C>G)
n.2941C>G
n.3149C>G
c.2358C>G (p.Phe786Leu)
c.1383C>G (p.Phe461Leu)
c.2097C>G (p.Phe699Leu)
c.3075C>G (p.Phe1025Leu)
n.2893C>G
n.3101C>G
1g.197434803C>TCA422672555CRB1c.2940C>T (p.Phe980=)
c.1821C>T (p.Phe607=)
c.1083C>T (p.Phe361=)
c.2604C>T (p.Phe868=)
c.2868C>T (p.Phe956=)
c.2129-797C>T (n.2129-797C>T)
n.2941C>T
n.3149C>T
c.2358C>T (p.Phe786=)
c.1383C>T (p.Phe461=)
c.2097C>T (p.Phe699=)
c.3075C>T (p.Phe1025=)
n.2893C>T
n.3101C>T
1g.197434803_197434805delinsCAGCA1218068673CRB1c.2940_2942delinsCAG (p.Phe980=)
c.1821_1823delinsCAG (p.Phe607=)
c.1083_1085delinsCAG (p.Phe361=)
c.2604_2606delinsCAG (p.Phe868=)
c.2868_2870delinsCAG (p.Phe956=)
c.2129-797_2129-795delinsCAG (n.2129-797_2129-795delinsCAG)
n.2941_2943delinsCAG
n.3149_3151delinsCAG
c.2358_2360delinsCAG (p.Phe786=)
c.1383_1385delinsCAG (p.Phe461=)
c.2097_2099delinsCAG (p.Phe699=)
c.3075_3077delinsCAG (p.Phe1025=)
n.2893_2895delinsCAG
n.3101_3103delinsCAG
1g.197434804A>CCA422672556CRB1c.2941A>C (p.Arg981=)
c.1822A>C (p.Arg608=)
c.1084A>C (p.Arg362=)
c.2605A>C (p.Arg869=)
c.2869A>C (p.Arg957=)
c.2129-796A>C (n.2129-796A>C)
n.2942A>C
n.3150A>C
c.2359A>C (p.Arg787=)
c.1384A>C (p.Arg462=)
c.2098A>C (p.Arg700=)
c.3076A>C (p.Arg1026=)
n.2894A>C
n.3102A>C
1g.197434804A>GCA344043789CRB1c.2941A>G (p.Arg981Gly)
c.1822A>G (p.Arg608Gly)
c.1084A>G (p.Arg362Gly)
c.2605A>G (p.Arg869Gly)
c.2869A>G (p.Arg957Gly)
c.2129-796A>G (n.2129-796A>G)
n.2942A>G
n.3150A>G
c.2359A>G (p.Arg787Gly)
c.1384A>G (p.Arg462Gly)
c.2098A>G (p.Arg700Gly)
c.3076A>G (p.Arg1026Gly)
n.2894A>G
n.3102A>G
1g.197434804A>TCA344043790CRB1c.2941A>T (p.Arg981Ter)
c.1822A>T (p.Arg608Ter)
c.1084A>T (p.Arg362Ter)
c.2605A>T (p.Arg869Ter)
c.2869A>T (p.Arg957Ter)
c.2129-796A>T (n.2129-796A>T)
n.2942A>T
n.3150A>T
c.2359A>T (p.Arg787Ter)
c.1384A>T (p.Arg462Ter)
c.2098A>T (p.Arg700Ter)
c.3076A>T (p.Arg1026Ter)
n.2894A>T
n.3102A>T
1g.197434805_197434806delCA729762531CRB1c.2942_2943del (p.Arg981AsnfsTer16)
c.1823_1824del (p.Arg608AsnfsTer16)
c.1085_1086del (p.Arg362AsnfsTer16)
c.2606_2607del (p.Arg869AsnfsTer16)
c.2870_2871del (p.Arg957AsnfsTer16)
c.2129-795_2129-794del (n.2129-795_2129-794del)
n.2943_2944del
n.3151_3152del
c.2360_2361del (p.Arg787AsnfsTer16)
c.1385_1386del (p.Arg462AsnfsTer16)
c.2099_2100del (p.Arg700AsnfsTer16)
c.3077_3078del (p.Arg1026AsnfsTer16)
n.2895_2896del
n.3103_3104del
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197434805G>ACA344043792CRB1c.2942G>A (p.Arg981Lys)
c.1823G>A (p.Arg608Lys)
c.1085G>A (p.Arg362Lys)
c.2606G>A (p.Arg869Lys)
c.2870G>A (p.Arg957Lys)
c.2129-795G>A (n.2129-795G>A)
n.2943G>A
n.3151G>A
c.2360G>A (p.Arg787Lys)
c.1385G>A (p.Arg462Lys)
c.2099G>A (p.Arg700Lys)
c.3077G>A (p.Arg1026Lys)
n.2895G>A
n.3103G>A
1g.197434805G>CCA344043795CRB1c.2942G>C (p.Arg981Thr)
c.1823G>C (p.Arg608Thr)
c.1085G>C (p.Arg362Thr)
c.2606G>C (p.Arg869Thr)
c.2870G>C (p.Arg957Thr)
c.2129-795G>C (n.2129-795G>C)
n.2943G>C
n.3151G>C
c.2360G>C (p.Arg787Thr)
c.1385G>C (p.Arg462Thr)
c.2099G>C (p.Arg700Thr)
c.3077G>C (p.Arg1026Thr)
n.2895G>C
n.3103G>C
 dbSNP
1g.197434805G>TCA344043800CRB1c.2942G>T (p.Arg981Ile)
c.1823G>T (p.Arg608Ile)
c.1085G>T (p.Arg362Ile)
c.2606G>T (p.Arg869Ile)
c.2870G>T (p.Arg957Ile)
c.2129-795G>T (n.2129-795G>T)
n.2943G>T
n.3151G>T
c.2360G>T (p.Arg787Ile)
c.1385G>T (p.Arg462Ile)
c.2099G>T (p.Arg700Ile)
c.3077G>T (p.Arg1026Ile)
n.2895G>T
n.3103G>T
1g.197434806A>CCA344043803CRB1c.2943A>C (p.Arg981Ser)
c.1824A>C (p.Arg608Ser)
c.1086A>C (p.Arg362Ser)
c.2607A>C (p.Arg869Ser)
c.2871A>C (p.Arg957Ser)
c.2129-794A>C (n.2129-794A>C)
n.2944A>C
n.3152A>C
c.2361A>C (p.Arg787Ser)
c.1386A>C (p.Arg462Ser)
c.2100A>C (p.Arg700Ser)
c.3078A>C (p.Arg1026Ser)
n.2896A>C
n.3104A>C
1g.197434806A>GCA422672557CRB1c.2943A>G (p.Arg981=)
c.1824A>G (p.Arg608=)
c.1086A>G (p.Arg362=)
c.2607A>G (p.Arg869=)
c.2871A>G (p.Arg957=)
c.2129-794A>G (n.2129-794A>G)
n.2944A>G
n.3152A>G
c.2361A>G (p.Arg787=)
c.1386A>G (p.Arg462=)
c.2100A>G (p.Arg700=)
c.3078A>G (p.Arg1026=)
n.2896A>G
n.3104A>G
1g.197434806A>TCA344043806CRB1c.2943A>T (p.Arg981Ser)
c.1824A>T (p.Arg608Ser)
c.1086A>T (p.Arg362Ser)
c.2607A>T (p.Arg869Ser)
c.2871A>T (p.Arg957Ser)
c.2129-794A>T (n.2129-794A>T)
n.2944A>T
n.3152A>T
c.2361A>T (p.Arg787Ser)
c.1386A>T (p.Arg462Ser)
c.2100A>T (p.Arg700Ser)
c.3078A>T (p.Arg1026Ser)
n.2896A>T
n.3104A>T
1g.197434807A>CCA344043809CRB1c.2944A>C (p.Thr982Pro)
c.1825A>C (p.Thr609Pro)
c.1087A>C (p.Thr363Pro)
c.2608A>C (p.Thr870Pro)
c.2872A>C (p.Thr958Pro)
c.2129-793A>C (n.2129-793A>C)
n.2945A>C
n.3153A>C
c.2362A>C (p.Thr788Pro)
c.1387A>C (p.Thr463Pro)
c.2101A>C (p.Thr701Pro)
c.3079A>C (p.Thr1027Pro)
n.2897A>C
n.3105A>C
1g.197434807A>GCA344043814CRB1c.2944A>G (p.Thr982Ala)
c.1825A>G (p.Thr609Ala)
c.1087A>G (p.Thr363Ala)
c.2608A>G (p.Thr870Ala)
c.2872A>G (p.Thr958Ala)
c.2129-793A>G (n.2129-793A>G)
n.2945A>G
n.3153A>G
c.2362A>G (p.Thr788Ala)
c.1387A>G (p.Thr463Ala)
c.2101A>G (p.Thr701Ala)
c.3079A>G (p.Thr1027Ala)
n.2897A>G
n.3105A>G
1g.197434807A>TCA344043823CRB1c.2944A>T (p.Thr982Ser)
c.1825A>T (p.Thr609Ser)
c.1087A>T (p.Thr363Ser)
c.2608A>T (p.Thr870Ser)
c.2872A>T (p.Thr958Ser)
c.2129-793A>T (n.2129-793A>T)
n.2945A>T
n.3153A>T
c.2362A>T (p.Thr788Ser)
c.1387A>T (p.Thr463Ser)
c.2101A>T (p.Thr701Ser)
c.3079A>T (p.Thr1027Ser)
n.2897A>T
n.3105A>T
1g.197434808C>ACA344043841CRB1c.2945C>A (p.Thr982Lys)
c.1826C>A (p.Thr609Lys)
c.1088C>A (p.Thr363Lys)
c.2609C>A (p.Thr870Lys)
c.2873C>A (p.Thr958Lys)
c.2129-792C>A (n.2129-792C>A)
n.2946C>A
n.3154C>A
c.2363C>A (p.Thr788Lys)
c.1388C>A (p.Thr463Lys)
c.2102C>A (p.Thr701Lys)
c.3080C>A (p.Thr1027Lys)
n.2898C>A
n.3106C>A
 dbSNP gnomAD v4
1g.197434808C=CA1218068674CRB1c.2945C= (p.Thr982=)
c.1826C= (p.Thr609=)
c.1088C= (p.Thr363=)
c.2609C= (p.Thr870=)
c.2873C= (p.Thr958=)
c.2129-792C= (n.2129-792C=)
n.2946C=
n.3154C=
c.2363C= (p.Thr788=)
c.1388C= (p.Thr463=)
c.2102C= (p.Thr701=)
c.3080C= (p.Thr1027=)
n.2898C=
n.3106C=
1g.197434808C>GCA344043836CRB1c.2945C>G (p.Thr982Arg)
c.1826C>G (p.Thr609Arg)
c.1088C>G (p.Thr363Arg)
c.2609C>G (p.Thr870Arg)
c.2873C>G (p.Thr958Arg)
c.2129-792C>G (n.2129-792C>G)
n.2946C>G
n.3154C>G
c.2363C>G (p.Thr788Arg)
c.1388C>G (p.Thr463Arg)
c.2102C>G (p.Thr701Arg)
c.3080C>G (p.Thr1027Arg)
n.2898C>G
n.3106C>G
1g.197434808C>TCA344043827CRB1c.2945C>T (p.Thr982Ile)
c.1826C>T (p.Thr609Ile)
c.1088C>T (p.Thr363Ile)
c.2609C>T (p.Thr870Ile)
c.2873C>T (p.Thr958Ile)
c.2129-792C>T (n.2129-792C>T)
n.2946C>T
n.3154C>T
c.2363C>T (p.Thr788Ile)
c.1388C>T (p.Thr463Ile)
c.2102C>T (p.Thr701Ile)
c.3080C>T (p.Thr1027Ile)
n.2898C>T
n.3106C>T
1g.197434809A>CCA422672558CRB1c.2946A>C (p.Thr982=)
c.1827A>C (p.Thr609=)
c.1089A>C (p.Thr363=)
c.2610A>C (p.Thr870=)
c.2874A>C (p.Thr958=)
c.2129-791A>C (n.2129-791A>C)
n.2947A>C
n.3155A>C
c.2364A>C (p.Thr788=)
c.1389A>C (p.Thr463=)
c.2103A>C (p.Thr701=)
c.3081A>C (p.Thr1027=)
n.2899A>C
n.3107A>C
1g.197434809A>GCA422672559CRB1c.2946A>G (p.Thr982=)
c.1827A>G (p.Thr609=)
c.1089A>G (p.Thr363=)
c.2610A>G (p.Thr870=)
c.2874A>G (p.Thr958=)
c.2129-791A>G (n.2129-791A>G)
n.2947A>G
n.3155A>G
c.2364A>G (p.Thr788=)
c.1389A>G (p.Thr463=)
c.2103A>G (p.Thr701=)
c.3081A>G (p.Thr1027=)
n.2899A>G
n.3107A>G
1g.197434809A>TCA422672560CRB1c.2946A>T (p.Thr982=)
c.1827A>T (p.Thr609=)
c.1089A>T (p.Thr363=)
c.2610A>T (p.Thr870=)
c.2874A>T (p.Thr958=)
c.2129-791A>T (n.2129-791A>T)
n.2947A>T
n.3155A>T
c.2364A>T (p.Thr788=)
c.1389A>T (p.Thr463=)
c.2103A>T (p.Thr701=)
c.3081A>T (p.Thr1027=)
n.2899A>T
n.3107A>T
1g.197434810A>CCA422672561CRB1c.2947A>C (p.Arg983=)
c.1828A>C (p.Arg610=)
c.1090A>C (p.Arg364=)
c.2611A>C (p.Arg871=)
c.2875A>C (p.Arg959=)
c.2129-790A>C (n.2129-790A>C)
n.2948A>C
n.3156A>C
c.2365A>C (p.Arg789=)
c.1390A>C (p.Arg464=)
c.2104A>C (p.Arg702=)
c.3082A>C (p.Arg1028=)
n.2900A>C
n.3108A>C
1g.197434810A>GCA344043846CRB1c.2947A>G (p.Arg983Gly)
c.1828A>G (p.Arg610Gly)
c.1090A>G (p.Arg364Gly)
c.2611A>G (p.Arg871Gly)
c.2875A>G (p.Arg959Gly)
c.2129-790A>G (n.2129-790A>G)
n.2948A>G
n.3156A>G
c.2365A>G (p.Arg789Gly)
c.1390A>G (p.Arg464Gly)
c.2104A>G (p.Arg702Gly)
c.3082A>G (p.Arg1028Gly)
n.2900A>G
n.3108A>G
1g.197434810A>TCA344043851CRB1c.2947A>T (p.Arg983Trp)
c.1828A>T (p.Arg610Trp)
c.1090A>T (p.Arg364Trp)
c.2611A>T (p.Arg871Trp)
c.2875A>T (p.Arg959Trp)
c.2129-790A>T (n.2129-790A>T)
n.2948A>T
n.3156A>T
c.2365A>T (p.Arg789Trp)
c.1390A>T (p.Arg464Trp)
c.2104A>T (p.Arg702Trp)
c.3082A>T (p.Arg1028Trp)
n.2900A>T
n.3108A>T
 gnomAD v4 COSMIC COSMIC
1g.197434811G>ACA35906684CRB1c.2948G>A (p.Arg983Lys)
c.1829G>A (p.Arg610Lys)
c.1091G>A (p.Arg364Lys)
c.2612G>A (p.Arg871Lys)
c.2876G>A (p.Arg959Lys)
c.2129-789G>A (n.2129-789G>A)
n.2949G>A
n.3157G>A
c.2366G>A (p.Arg789Lys)
c.1391G>A (p.Arg464Lys)
c.2105G>A (p.Arg702Lys)
c.3083G>A (p.Arg1028Lys)
n.2901G>A
n.3109G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.197434811G>CCA344043865CRB1c.2948G>C (p.Arg983Thr)
c.1829G>C (p.Arg610Thr)
c.1091G>C (p.Arg364Thr)
c.2612G>C (p.Arg871Thr)
c.2876G>C (p.Arg959Thr)
c.2129-789G>C (n.2129-789G>C)
n.2949G>C
n.3157G>C
c.2366G>C (p.Arg789Thr)
c.1391G>C (p.Arg464Thr)
c.2105G>C (p.Arg702Thr)
c.3083G>C (p.Arg1028Thr)
n.2901G>C
n.3109G>C
1g.197434811G=CA1218068675CRB1c.2948G= (p.Arg983=)
c.1829G= (p.Arg610=)
c.1091G= (p.Arg364=)
c.2612G= (p.Arg871=)
c.2876G= (p.Arg959=)
c.2129-789G= (n.2129-789G=)
n.2949G=
n.3157G=
c.2366G= (p.Arg789=)
c.1391G= (p.Arg464=)
c.2105G= (p.Arg702=)
c.3083G= (p.Arg1028=)
n.2901G=
n.3109G=
1g.197434811G>TCA344043868CRB1c.2948G>T (p.Arg983Met)
c.1829G>T (p.Arg610Met)
c.1091G>T (p.Arg364Met)
c.2612G>T (p.Arg871Met)
c.2876G>T (p.Arg959Met)
c.2129-789G>T (n.2129-789G>T)
n.2949G>T
n.3157G>T
c.2366G>T (p.Arg789Met)
c.1391G>T (p.Arg464Met)
c.2105G>T (p.Arg702Met)
c.3083G>T (p.Arg1028Met)
n.2901G>T
n.3109G>T
 dbSNP gnomAD v4
1g.197434812G>ACA422672562CRB1c.2949G>A (p.Arg983=)
c.1830G>A (p.Arg610=)
c.1092G>A (p.Arg364=)
c.2613G>A (p.Arg871=)
c.2877G>A (p.Arg959=)
c.2129-788G>A (n.2129-788G>A)
n.2950G>A
n.3158G>A
c.2367G>A (p.Arg789=)
c.1392G>A (p.Arg464=)
c.2106G>A (p.Arg702=)
c.3084G>A (p.Arg1028=)
n.2902G>A
n.3110G>A
 ClinVar dbSNP gnomAD v4
1g.197434812G>CCA344043874CRB1c.2949G>C (p.Arg983Ser)
c.1830G>C (p.Arg610Ser)
c.1092G>C (p.Arg364Ser)
c.2613G>C (p.Arg871Ser)
c.2877G>C (p.Arg959Ser)
c.2129-788G>C (n.2129-788G>C)
n.2950G>C
n.3158G>C
c.2367G>C (p.Arg789Ser)
c.1392G>C (p.Arg464Ser)
c.2106G>C (p.Arg702Ser)
c.3084G>C (p.Arg1028Ser)
n.2902G>C
n.3110G>C
1g.197434812G>TCA344043883CRB1c.2949G>T (p.Arg983Ser)
c.1830G>T (p.Arg610Ser)
c.1092G>T (p.Arg364Ser)
c.2613G>T (p.Arg871Ser)
c.2877G>T (p.Arg959Ser)
c.2129-788G>T (n.2129-788G>T)
n.2950G>T
n.3158G>T
c.2367G>T (p.Arg789Ser)
c.1392G>T (p.Arg464Ser)
c.2106G>T (p.Arg702Ser)
c.3084G>T (p.Arg1028Ser)
n.2902G>T
n.3110G>T
1g.197434813G>ACA344043887CRB1c.2950G>A (p.Asp984Asn)
c.1831G>A (p.Asp611Asn)
c.1093G>A (p.Asp365Asn)
c.2614G>A (p.Asp872Asn)
c.2878G>A (p.Asp960Asn)
c.2129-787G>A (n.2129-787G>A)
n.2951G>A
n.3159G>A
c.2368G>A (p.Asp790Asn)
c.1393G>A (p.Asp465Asn)
c.2107G>A (p.Asp703Asn)
c.3085G>A (p.Asp1029Asn)
n.2903G>A
n.3111G>A
 dbSNP gnomAD v2 gnomAD v4
1g.197434813G>CCA344043888CRB1c.2950G>C (p.Asp984His)
c.1831G>C (p.Asp611His)
c.1093G>C (p.Asp365His)
c.2614G>C (p.Asp872His)
c.2878G>C (p.Asp960His)
c.2129-787G>C (n.2129-787G>C)
n.2951G>C
n.3159G>C
c.2368G>C (p.Asp790His)
c.1393G>C (p.Asp465His)
c.2107G>C (p.Asp703His)
c.3085G>C (p.Asp1029His)
n.2903G>C
n.3111G>C
1g.197434813G=CA1218068676CRB1c.2950G= (p.Asp984=)
c.1831G= (p.Asp611=)
c.1093G= (p.Asp365=)
c.2614G= (p.Asp872=)
c.2878G= (p.Asp960=)
c.2129-787G= (n.2129-787G=)
n.2951G=
n.3159G=
c.2368G= (p.Asp790=)
c.1393G= (p.Asp465=)
c.2107G= (p.Asp703=)
c.3085G= (p.Asp1029=)
n.2903G=
n.3111G=
1g.197434813G>TCA344043889CRB1c.2950G>T (p.Asp984Tyr)
c.1831G>T (p.Asp611Tyr)
c.1093G>T (p.Asp365Tyr)
c.2614G>T (p.Asp872Tyr)
c.2878G>T (p.Asp960Tyr)
c.2129-787G>T (n.2129-787G>T)
n.2951G>T
n.3159G>T
c.2368G>T (p.Asp790Tyr)
c.1393G>T (p.Asp465Tyr)
c.2107G>T (p.Asp703Tyr)
c.3085G>T (p.Asp1029Tyr)
n.2903G>T
n.3111G>T
1g.197434814A=CA1218068677CRB1c.2951A= (p.Asp984=)
c.1832A= (p.Asp611=)
c.1094A= (p.Asp365=)
c.2615A= (p.Asp872=)
c.2879A= (p.Asp960=)
c.2129-786A= (n.2129-786A=)
n.2952A=
n.3160A=
c.2369A= (p.Asp790=)
c.1394A= (p.Asp465=)
c.2108A= (p.Asp703=)
c.3086A= (p.Asp1029=)
n.2904A=
n.3112A=
1g.197434814A>CCA344043894CRB1c.2951A>C (p.Asp984Ala)
c.1832A>C (p.Asp611Ala)
c.1094A>C (p.Asp365Ala)
c.2615A>C (p.Asp872Ala)
c.2879A>C (p.Asp960Ala)
c.2129-786A>C (n.2129-786A>C)
n.2952A>C
n.3160A>C
c.2369A>C (p.Asp790Ala)
c.1394A>C (p.Asp465Ala)
c.2108A>C (p.Asp703Ala)
c.3086A>C (p.Asp1029Ala)
n.2904A>C
n.3112A>C
 ClinVar dbSNP
1g.197434814A>GCA344043902CRB1c.2951A>G (p.Asp984Gly)
c.1832A>G (p.Asp611Gly)
c.1094A>G (p.Asp365Gly)
c.2615A>G (p.Asp872Gly)
c.2879A>G (p.Asp960Gly)
c.2129-786A>G (n.2129-786A>G)
n.2952A>G
n.3160A>G
c.2369A>G (p.Asp790Gly)
c.1394A>G (p.Asp465Gly)
c.2108A>G (p.Asp703Gly)
c.3086A>G (p.Asp1029Gly)
n.2904A>G
n.3112A>G
1g.197434814A>TCA344043904CRB1c.2951A>T (p.Asp984Val)
c.1832A>T (p.Asp611Val)
c.1094A>T (p.Asp365Val)
c.2615A>T (p.Asp872Val)
c.2879A>T (p.Asp960Val)
c.2129-786A>T (n.2129-786A>T)
n.2952A>T
n.3160A>T
c.2369A>T (p.Asp790Val)
c.1394A>T (p.Asp465Val)
c.2108A>T (p.Asp703Val)
c.3086A>T (p.Asp1029Val)
n.2904A>T
n.3112A>T
 dbSNP gnomAD v3 gnomAD v4
1g.197434815T>ACA344043919CRB1c.2952T>A (p.Asp984Glu)
c.1833T>A (p.Asp611Glu)
c.1095T>A (p.Asp365Glu)
c.2616T>A (p.Asp872Glu)
c.2880T>A (p.Asp960Glu)
c.2129-785T>A (n.2129-785T>A)
n.2953T>A
n.3161T>A
c.2370T>A (p.Asp790Glu)
c.1395T>A (p.Asp465Glu)
c.2109T>A (p.Asp703Glu)
c.3087T>A (p.Asp1029Glu)
n.2905T>A
n.3113T>A
1g.197434815T>CCA422672563CRB1c.2952T>C (p.Asp984=)
c.1833T>C (p.Asp611=)
c.1095T>C (p.Asp365=)
c.2616T>C (p.Asp872=)
c.2880T>C (p.Asp960=)
c.2129-785T>C (n.2129-785T>C)
n.2953T>C
n.3161T>C
c.2370T>C (p.Asp790=)
c.1395T>C (p.Asp465=)
c.2109T>C (p.Asp703=)
c.3087T>C (p.Asp1029=)
n.2905T>C
n.3113T>C
1g.197434815T>GCA344043914CRB1c.2952T>G (p.Asp984Glu)
c.1833T>G (p.Asp611Glu)
c.1095T>G (p.Asp365Glu)
c.2616T>G (p.Asp872Glu)
c.2880T>G (p.Asp960Glu)
c.2129-785T>G (n.2129-785T>G)
n.2953T>G
n.3161T>G
c.2370T>G (p.Asp790Glu)
c.1395T>G (p.Asp465Glu)
c.2109T>G (p.Asp703Glu)
c.3087T>G (p.Asp1029Glu)
n.2905T>G
n.3113T>G
1g.197434816G>ACA344043924CRB1c.2953G>A (p.Ala985Thr)
c.1834G>A (p.Ala612Thr)
c.1096G>A (p.Ala366Thr)
c.2617G>A (p.Ala873Thr)
c.2881G>A (p.Ala961Thr)
c.2129-784G>A (n.2129-784G>A)
n.2954G>A
n.3162G>A
c.2371G>A (p.Ala791Thr)
c.1396G>A (p.Ala466Thr)
c.2110G>A (p.Ala704Thr)
c.3088G>A (p.Ala1030Thr)
n.2906G>A
n.3114G>A
 dbSNP
1g.197434816G>CCA344043926CRB1c.2953G>C (p.Ala985Pro)
c.1834G>C (p.Ala612Pro)
c.1096G>C (p.Ala366Pro)
c.2617G>C (p.Ala873Pro)
c.2881G>C (p.Ala961Pro)
c.2129-784G>C (n.2129-784G>C)
n.2954G>C
n.3162G>C
c.2371G>C (p.Ala791Pro)
c.1396G>C (p.Ala466Pro)
c.2110G>C (p.Ala704Pro)
c.3088G>C (p.Ala1030Pro)
n.2906G>C
n.3114G>C
1g.197434816G=CA1218068678CRB1c.2953G= (p.Ala985=)
c.1834G= (p.Ala612=)
c.1096G= (p.Ala366=)
c.2617G= (p.Ala873=)
c.2881G= (p.Ala961=)
c.2129-784G= (n.2129-784G=)
n.2954G=
n.3162G=
c.2371G= (p.Ala791=)
c.1396G= (p.Ala466=)
c.2110G= (p.Ala704=)
c.3088G= (p.Ala1030=)
n.2906G=
n.3114G=
1g.197434816G>TCA344043930CRB1c.2953G>T (p.Ala985Ser)
c.1834G>T (p.Ala612Ser)
c.1096G>T (p.Ala366Ser)
c.2617G>T (p.Ala873Ser)
c.2881G>T (p.Ala961Ser)
c.2129-784G>T (n.2129-784G>T)
n.2954G>T
n.3162G>T
c.2371G>T (p.Ala791Ser)
c.1396G>T (p.Ala466Ser)
c.2110G>T (p.Ala704Ser)
c.3088G>T (p.Ala1030Ser)
n.2906G>T
n.3114G>T
1g.197434817C>ACA344043935CRB1c.2954C>A (p.Ala985Glu)
c.1835C>A (p.Ala612Glu)
c.1097C>A (p.Ala366Glu)
c.2618C>A (p.Ala873Glu)
c.2882C>A (p.Ala961Glu)
c.2129-783C>A (n.2129-783C>A)
n.2955C>A
n.3163C>A
c.2372C>A (p.Ala791Glu)
c.1397C>A (p.Ala466Glu)
c.2111C>A (p.Ala704Glu)
c.3089C>A (p.Ala1030Glu)
n.2907C>A
n.3115C>A
 gnomAD v4 COSMIC
1g.197434817C>GCA344043939CRB1c.2954C>G (p.Ala985Gly)
c.1835C>G (p.Ala612Gly)
c.1097C>G (p.Ala366Gly)
c.2618C>G (p.Ala873Gly)
c.2882C>G (p.Ala961Gly)
c.2129-783C>G (n.2129-783C>G)
n.2955C>G
n.3163C>G
c.2372C>G (p.Ala791Gly)
c.1397C>G (p.Ala466Gly)
c.2111C>G (p.Ala704Gly)
c.3089C>G (p.Ala1030Gly)
n.2907C>G
n.3115C>G
1g.197434817C>TCA344043942CRB1c.2954C>T (p.Ala985Val)
c.1835C>T (p.Ala612Val)
c.1097C>T (p.Ala366Val)
c.2618C>T (p.Ala873Val)
c.2882C>T (p.Ala961Val)
c.2129-783C>T (n.2129-783C>T)
n.2955C>T
n.3163C>T
c.2372C>T (p.Ala791Val)
c.1397C>T (p.Ala466Val)
c.2111C>T (p.Ala704Val)
c.3089C>T (p.Ala1030Val)
n.2907C>T
n.3115C>T
1g.197434818A=CA1218068679CRB1c.2955A= (p.Ala985=)
c.1836A= (p.Ala612=)
c.1098A= (p.Ala366=)
c.2619A= (p.Ala873=)
c.2883A= (p.Ala961=)
c.2129-782A= (n.2129-782A=)
n.2956A=
n.3164A=
c.2373A= (p.Ala791=)
c.1398A= (p.Ala466=)
c.2112A= (p.Ala704=)
c.3090A= (p.Ala1030=)
n.2908A=
n.3116A=
1g.197434818A>CCA422672564CRB1c.2955A>C (p.Ala985=)
c.1836A>C (p.Ala612=)
c.1098A>C (p.Ala366=)
c.2619A>C (p.Ala873=)
c.2883A>C (p.Ala961=)
c.2129-782A>C (n.2129-782A>C)
n.2956A>C
n.3164A>C
c.2373A>C (p.Ala791=)
c.1398A>C (p.Ala466=)
c.2112A>C (p.Ala704=)
c.3090A>C (p.Ala1030=)
n.2908A>C
n.3116A>C
1g.197434818A>GCA422672566CRB1c.2955A>G (p.Ala985=)
c.1836A>G (p.Ala612=)
c.1098A>G (p.Ala366=)
c.2619A>G (p.Ala873=)
c.2883A>G (p.Ala961=)
c.2129-782A>G (n.2129-782A>G)
n.2956A>G
n.3164A>G
c.2373A>G (p.Ala791=)
c.1398A>G (p.Ala466=)
c.2112A>G (p.Ala704=)
c.3090A>G (p.Ala1030=)
n.2908A>G
n.3116A>G
 dbSNP
1g.197434818A>TCA422672565CRB1c.2955A>T (p.Ala985=)
c.1836A>T (p.Ala612=)
c.1098A>T (p.Ala366=)
c.2619A>T (p.Ala873=)
c.2883A>T (p.Ala961=)
c.2129-782A>T (n.2129-782A>T)
n.2956A>T
n.3164A>T
c.2373A>T (p.Ala791=)
c.1398A>T (p.Ala466=)
c.2112A>T (p.Ala704=)
c.3090A>T (p.Ala1030=)
n.2908A>T
n.3116A>T
 gnomAD v4
1g.197434818_197434819insGACA2580061837CRB1c.2955_2956insGA (p.Asn986GlufsTer3)
c.1836_1837insGA (p.Asn613GlufsTer3)
c.1098_1099insGA (p.Asn367GlufsTer3)
c.2619_2620insGA (p.Asn874GlufsTer3)
c.2883_2884insGA (p.Asn962GlufsTer3)
c.2129-782_2129-781insGA (n.2129-782_2129-781insGA)
n.2956_2957insGA
n.3164_3165insGA
c.2373_2374insGA (p.Asn792GlufsTer3)
c.1398_1399insGA (p.Asn467GlufsTer3)
c.2112_2113insGA (p.Asn705GlufsTer3)
c.3090_3091insGA (p.Asn1031GlufsTer3)
n.2908_2909insGA
n.3116_3117insGA
 ClinVar gnomAD v4
1g.197434819A=CA1218068680CRB1c.2956A= (p.Asn986=)
c.1837A= (p.Asn613=)
c.1099A= (p.Asn367=)
c.2620A= (p.Asn874=)
c.2884A= (p.Asn962=)
c.2129-781A= (n.2129-781A=)
n.2957A=
n.3165A=
c.2374A= (p.Asn792=)
c.1399A= (p.Asn467=)
c.2113A= (p.Asn705=)
c.3091A= (p.Asn1031=)
n.2909A=
n.3117A=
1g.197434819A>CCA344043951CRB1c.2956A>C (p.Asn986His)
c.1837A>C (p.Asn613His)
c.1099A>C (p.Asn367His)
c.2620A>C (p.Asn874His)
c.2884A>C (p.Asn962His)
c.2129-781A>C (n.2129-781A>C)
n.2957A>C
n.3165A>C
c.2374A>C (p.Asn792His)
c.1399A>C (p.Asn467His)
c.2113A>C (p.Asn705His)
c.3091A>C (p.Asn1031His)
n.2909A>C
n.3117A>C
1g.197434819A>GCA344043947CRB1c.2956A>G (p.Asn986Asp)
c.1837A>G (p.Asn613Asp)
c.1099A>G (p.Asn367Asp)
c.2620A>G (p.Asn874Asp)
c.2884A>G (p.Asn962Asp)
c.2129-781A>G (n.2129-781A>G)
n.2957A>G
n.3165A>G
c.2374A>G (p.Asn792Asp)
c.1399A>G (p.Asn467Asp)
c.2113A>G (p.Asn705Asp)
c.3091A>G (p.Asn1031Asp)
n.2909A>G
n.3117A>G
1g.197434819A>TCA344043949CRB1c.2956A>T (p.Asn986Tyr)
c.1837A>T (p.Asn613Tyr)
c.1099A>T (p.Asn367Tyr)
c.2620A>T (p.Asn874Tyr)
c.2884A>T (p.Asn962Tyr)
c.2129-781A>T (n.2129-781A>T)
n.2957A>T
n.3165A>T
c.2374A>T (p.Asn792Tyr)
c.1399A>T (p.Asn467Tyr)
c.2113A>T (p.Asn705Tyr)
c.3091A>T (p.Asn1031Tyr)
n.2909A>T
n.3117A>T
 ClinVar dbSNP
1g.197434820A>CCA344043954CRB1c.2957A>C (p.Asn986Thr)
c.1838A>C (p.Asn613Thr)
c.1100A>C (p.Asn367Thr)
c.2621A>C (p.Asn874Thr)
c.2885A>C (p.Asn962Thr)
c.2129-780A>C (n.2129-780A>C)
n.2958A>C
n.3166A>C
c.2375A>C (p.Asn792Thr)
c.1400A>C (p.Asn467Thr)
c.2114A>C (p.Asn705Thr)
c.3092A>C (p.Asn1031Thr)
n.2910A>C
n.3118A>C
1g.197434820A>GCA344043958CRB1c.2957A>G (p.Asn986Ser)
c.1838A>G (p.Asn613Ser)
c.1100A>G (p.Asn367Ser)
c.2621A>G (p.Asn874Ser)
c.2885A>G (p.Asn962Ser)
c.2129-780A>G (n.2129-780A>G)
n.2958A>G
n.3166A>G
c.2375A>G (p.Asn792Ser)
c.1400A>G (p.Asn467Ser)
c.2114A>G (p.Asn705Ser)
c.3092A>G (p.Asn1031Ser)
n.2910A>G
n.3118A>G
1g.197434820A>TCA344043959CRB1c.2957A>T (p.Asn986Ile)
c.1838A>T (p.Asn613Ile)
c.1100A>T (p.Asn367Ile)
c.2621A>T (p.Asn874Ile)
c.2885A>T (p.Asn962Ile)
c.2129-780A>T (n.2129-780A>T)
n.2958A>T
n.3166A>T
c.2375A>T (p.Asn792Ile)
c.1400A>T (p.Asn467Ile)
c.2114A>T (p.Asn705Ile)
c.3092A>T (p.Asn1031Ile)
n.2910A>T
n.3118A>T
1g.197434821T>ACA344043960CRB1c.2958T>A (p.Asn986Lys)
c.1839T>A (p.Asn613Lys)
c.1101T>A (p.Asn367Lys)
c.2622T>A (p.Asn874Lys)
c.2886T>A (p.Asn962Lys)
c.2129-779T>A (n.2129-779T>A)
n.2959T>A
n.3167T>A
c.2376T>A (p.Asn792Lys)
c.1401T>A (p.Asn467Lys)
c.2115T>A (p.Asn705Lys)
c.3093T>A (p.Asn1031Lys)
n.2911T>A
n.3119T>A
1g.197434821T>CCA422672567CRB1c.2958T>C (p.Asn986=)
c.1839T>C (p.Asn613=)
c.1101T>C (p.Asn367=)
c.2622T>C (p.Asn874=)
c.2886T>C (p.Asn962=)
c.2129-779T>C (n.2129-779T>C)
n.2959T>C
n.3167T>C
c.2376T>C (p.Asn792=)
c.1401T>C (p.Asn467=)
c.2115T>C (p.Asn705=)
c.3093T>C (p.Asn1031=)
n.2911T>C
n.3119T>C
 ClinVar dbSNP
1g.197434821T>GCA344043961CRB1c.2958T>G (p.Asn986Lys)
c.1839T>G (p.Asn613Lys)
c.1101T>G (p.Asn367Lys)
c.2622T>G (p.Asn874Lys)
c.2886T>G (p.Asn962Lys)
c.2129-779T>G (n.2129-779T>G)
n.2959T>G
n.3167T>G
c.2376T>G (p.Asn792Lys)
c.1401T>G (p.Asn467Lys)
c.2115T>G (p.Asn705Lys)
c.3093T>G (p.Asn1031Lys)
n.2911T>G
n.3119T>G
 gnomAD v4
1g.197434821T=CA1218068681CRB1c.2958T= (p.Asn986=)
c.1839T= (p.Asn613=)
c.1101T= (p.Asn367=)
c.2622T= (p.Asn874=)
c.2886T= (p.Asn962=)
c.2129-779T= (n.2129-779T=)
n.2959T=
n.3167T=
c.2376T= (p.Asn792=)
c.1401T= (p.Asn467=)
c.2115T= (p.Asn705=)
c.3093T= (p.Asn1031=)
n.2911T=
n.3119T=
1g.197434822G>ACA344043981CRB1c.2959G>A (p.Val987Ile)
c.1840G>A (p.Val614Ile)
c.1102G>A (p.Val368Ile)
c.2623G>A (p.Val875Ile)
c.2887G>A (p.Val963Ile)
c.2129-778G>A (n.2129-778G>A)
n.2960G>A
n.3168G>A
c.2377G>A (p.Val793Ile)
c.1402G>A (p.Val468Ile)
c.2116G>A (p.Val706Ile)
c.3094G>A (p.Val1032Ile)
n.2912G>A
n.3120G>A
1g.197434822G>CCA344043968CRB1c.2959G>C (p.Val987Leu)
c.1840G>C (p.Val614Leu)
c.1102G>C (p.Val368Leu)
c.2623G>C (p.Val875Leu)
c.2887G>C (p.Val963Leu)
c.2129-778G>C (n.2129-778G>C)
n.2960G>C
n.3168G>C
c.2377G>C (p.Val793Leu)
c.1402G>C (p.Val468Leu)
c.2116G>C (p.Val706Leu)
c.3094G>C (p.Val1032Leu)
n.2912G>C
n.3120G>C
1g.197434822G>TCA344043976CRB1c.2959G>T (p.Val987Leu)
c.1840G>T (p.Val614Leu)
c.1102G>T (p.Val368Leu)
c.2623G>T (p.Val875Leu)
c.2887G>T (p.Val963Leu)
c.2129-778G>T (n.2129-778G>T)
n.2960G>T
n.3168G>T
c.2377G>T (p.Val793Leu)
c.1402G>T (p.Val468Leu)
c.2116G>T (p.Val706Leu)
c.3094G>T (p.Val1032Leu)
n.2912G>T
n.3120G>T
1g.197434823T>ACA344043990CRB1c.2960T>A (p.Val987Glu)
c.1841T>A (p.Val614Glu)
c.1103T>A (p.Val368Glu)
c.2624T>A (p.Val875Glu)
c.2888T>A (p.Val963Glu)
c.2129-777T>A (n.2129-777T>A)
n.2961T>A
n.3169T>A
c.2378T>A (p.Val793Glu)
c.1403T>A (p.Val468Glu)
c.2117T>A (p.Val706Glu)
c.3095T>A (p.Val1032Glu)
n.2913T>A
n.3121T>A
1g.197434823T>CCA344044004CRB1c.2960T>C (p.Val987Ala)
c.1841T>C (p.Val614Ala)
c.1103T>C (p.Val368Ala)
c.2624T>C (p.Val875Ala)
c.2888T>C (p.Val963Ala)
c.2129-777T>C (n.2129-777T>C)
n.2961T>C
n.3169T>C
c.2378T>C (p.Val793Ala)
c.1403T>C (p.Val468Ala)
c.2117T>C (p.Val706Ala)
c.3095T>C (p.Val1032Ala)
n.2913T>C
n.3121T>C
1g.197434823T>GCA344044010CRB1c.2960T>G (p.Val987Gly)
c.1841T>G (p.Val614Gly)
c.1103T>G (p.Val368Gly)
c.2624T>G (p.Val875Gly)
c.2888T>G (p.Val963Gly)
c.2129-777T>G (n.2129-777T>G)
n.2961T>G
n.3169T>G
c.2378T>G (p.Val793Gly)
c.1403T>G (p.Val468Gly)
c.2117T>G (p.Val706Gly)
c.3095T>G (p.Val1032Gly)
n.2913T>G
n.3121T>G
1g.197434824A>CCA422672568CRB1c.2961A>C (p.Val987=)
c.1842A>C (p.Val614=)
c.1104A>C (p.Val368=)
c.2625A>C (p.Val875=)
c.2889A>C (p.Val963=)
c.2129-776A>C (n.2129-776A>C)
n.2962A>C
n.3170A>C
c.2379A>C (p.Val793=)
c.1404A>C (p.Val468=)
c.2118A>C (p.Val706=)
c.3096A>C (p.Val1032=)
n.2914A>C
n.3122A>C
 gnomAD v4
1g.197434824A>GCA422672569CRB1c.2961A>G (p.Val987=)
c.1842A>G (p.Val614=)
c.1104A>G (p.Val368=)
c.2625A>G (p.Val875=)
c.2889A>G (p.Val963=)
c.2129-776A>G (n.2129-776A>G)
n.2962A>G
n.3170A>G
c.2379A>G (p.Val793=)
c.1404A>G (p.Val468=)
c.2118A>G (p.Val706=)
c.3096A>G (p.Val1032=)
n.2914A>G
n.3122A>G
 ClinVar gnomAD v4
1g.197434824A>TCA422672570CRB1c.2961A>T (p.Val987=)
c.1842A>T (p.Val614=)
c.1104A>T (p.Val368=)
c.2625A>T (p.Val875=)
c.2889A>T (p.Val963=)
c.2129-776A>T (n.2129-776A>T)
n.2962A>T
n.3170A>T
c.2379A>T (p.Val793=)
c.1404A>T (p.Val468=)
c.2118A>T (p.Val706=)
c.3096A>T (p.Val1032=)
n.2914A>T
n.3122A>T
1g.197434825A=CA1218068682CRB1c.2962A= (p.Ile988=)
c.1843A= (p.Ile615=)
c.1105A= (p.Ile369=)
c.2626A= (p.Ile876=)
c.2890A= (p.Ile964=)
c.2129-775A= (n.2129-775A=)
n.2963A=
n.3171A=
c.2380A= (p.Ile794=)
c.1405A= (p.Ile469=)
c.2119A= (p.Ile707=)
c.3097A= (p.Ile1033=)
n.2915A=
n.3123A=
1g.197434825A>CCA344044012CRB1c.2962A>C (p.Ile988Leu)
c.1843A>C (p.Ile615Leu)
c.1105A>C (p.Ile369Leu)
c.2626A>C (p.Ile876Leu)
c.2890A>C (p.Ile964Leu)
c.2129-775A>C (n.2129-775A>C)
n.2963A>C
n.3171A>C
c.2380A>C (p.Ile794Leu)
c.1405A>C (p.Ile469Leu)
c.2119A>C (p.Ile707Leu)
c.3097A>C (p.Ile1033Leu)
n.2915A>C
n.3123A>C
1g.197434825A>GCA344044013CRB1c.2962A>G (p.Ile988Val)
c.1843A>G (p.Ile615Val)
c.1105A>G (p.Ile369Val)
c.2626A>G (p.Ile876Val)
c.2890A>G (p.Ile964Val)
c.2129-775A>G (n.2129-775A>G)
n.2963A>G
n.3171A>G
c.2380A>G (p.Ile794Val)
c.1405A>G (p.Ile469Val)
c.2119A>G (p.Ile707Val)
c.3097A>G (p.Ile1033Val)
n.2915A>G
n.3123A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197434825A>TCA344044014CRB1c.2962A>T (p.Ile988Leu)
c.1843A>T (p.Ile615Leu)
c.1105A>T (p.Ile369Leu)
c.2626A>T (p.Ile876Leu)
c.2890A>T (p.Ile964Leu)
c.2129-775A>T (n.2129-775A>T)
n.2963A>T
n.3171A>T
c.2380A>T (p.Ile794Leu)
c.1405A>T (p.Ile469Leu)
c.2119A>T (p.Ile707Leu)
c.3097A>T (p.Ile1033Leu)
n.2915A>T
n.3123A>T
1g.197434826T>ACA344044019CRB1c.2963T>A (p.Ile988Lys)
c.1844T>A (p.Ile615Lys)
c.1106T>A (p.Ile369Lys)
c.2627T>A (p.Ile876Lys)
c.2891T>A (p.Ile964Lys)
c.2129-774T>A (n.2129-774T>A)
n.2964T>A
n.3172T>A
c.2381T>A (p.Ile794Lys)
c.1406T>A (p.Ile469Lys)
c.2120T>A (p.Ile707Lys)
c.3098T>A (p.Ile1033Lys)
n.2916T>A
n.3124T>A
1g.197434826T>CCA344044022CRB1c.2963T>C (p.Ile988Thr)
c.1844T>C (p.Ile615Thr)
c.1106T>C (p.Ile369Thr)
c.2627T>C (p.Ile876Thr)
c.2891T>C (p.Ile964Thr)
c.2129-774T>C (n.2129-774T>C)
n.2964T>C
n.3172T>C
c.2381T>C (p.Ile794Thr)
c.1406T>C (p.Ile469Thr)
c.2120T>C (p.Ile707Thr)
c.3098T>C (p.Ile1033Thr)
n.2916T>C
n.3124T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197434826T>GCA344044028CRB1c.2963T>G (p.Ile988Arg)
c.1844T>G (p.Ile615Arg)
c.1106T>G (p.Ile369Arg)
c.2627T>G (p.Ile876Arg)
c.2891T>G (p.Ile964Arg)
c.2129-774T>G (n.2129-774T>G)
n.2964T>G
n.3172T>G
c.2381T>G (p.Ile794Arg)
c.1406T>G (p.Ile469Arg)
c.2120T>G (p.Ile707Arg)
c.3098T>G (p.Ile1033Arg)
n.2916T>G
n.3124T>G
1g.197434826T=CA1218068683CRB1c.2963T= (p.Ile988=)
c.1844T= (p.Ile615=)
c.1106T= (p.Ile369=)
c.2627T= (p.Ile876=)
c.2891T= (p.Ile964=)
c.2129-774T= (n.2129-774T=)
n.2964T=
n.3172T=
c.2381T= (p.Ile794=)
c.1406T= (p.Ile469=)
c.2120T= (p.Ile707=)
c.3098T= (p.Ile1033=)
n.2916T=
n.3124T=
1g.197434827A>CCA422672571CRB1c.2964A>C (p.Ile988=)
c.1845A>C (p.Ile615=)
c.1107A>C (p.Ile369=)
c.2628A>C (p.Ile876=)
c.2892A>C (p.Ile964=)
c.2129-773A>C (n.2129-773A>C)
n.2965A>C
n.3173A>C
c.2382A>C (p.Ile794=)
c.1407A>C (p.Ile469=)
c.2121A>C (p.Ile707=)
c.3099A>C (p.Ile1033=)
n.2917A>C
n.3125A>C
 COSMIC COSMIC
1g.197434827A>GCA344044037CRB1c.2964A>G (p.Ile988Met)
c.1845A>G (p.Ile615Met)
c.1107A>G (p.Ile369Met)
c.2628A>G (p.Ile876Met)
c.2892A>G (p.Ile964Met)
c.2129-773A>G (n.2129-773A>G)
n.2965A>G
n.3173A>G
c.2382A>G (p.Ile794Met)
c.1407A>G (p.Ile469Met)
c.2121A>G (p.Ile707Met)
c.3099A>G (p.Ile1033Met)
n.2917A>G
n.3125A>G
1g.197434827A>TCA422672572CRB1c.2964A>T (p.Ile988=)
c.1845A>T (p.Ile615=)
c.1107A>T (p.Ile369=)
c.2628A>T (p.Ile876=)
c.2892A>T (p.Ile964=)
c.2129-773A>T (n.2129-773A>T)
n.2965A>T
n.3173A>T
c.2382A>T (p.Ile794=)
c.1407A>T (p.Ile469=)
c.2121A>T (p.Ile707=)
c.3099A>T (p.Ile1033=)
n.2917A>T
n.3125A>T
1g.197434828A=CA1218068684CRB1c.2965A= (p.Ile989=)
c.1846A= (p.Ile616=)
c.1108A= (p.Ile370=)
c.2629A= (p.Ile877=)
c.2893A= (p.Ile965=)
c.2129-772A= (n.2129-772A=)
n.2966A=
n.3174A=
c.2383A= (p.Ile795=)
c.1408A= (p.Ile470=)
c.2122A= (p.Ile708=)
c.3100A= (p.Ile1034=)
n.2918A=
n.3126A=
1g.197434828A>CCA344044049CRB1c.2965A>C (p.Ile989Leu)
c.1846A>C (p.Ile616Leu)
c.1108A>C (p.Ile370Leu)
c.2629A>C (p.Ile877Leu)
c.2893A>C (p.Ile965Leu)
c.2129-772A>C (n.2129-772A>C)
n.2966A>C
n.3174A>C
c.2383A>C (p.Ile795Leu)
c.1408A>C (p.Ile470Leu)
c.2122A>C (p.Ile708Leu)
c.3100A>C (p.Ile1034Leu)
n.2918A>C
n.3126A>C
 gnomAD v4
1g.197434828A>GCA344044050CRB1c.2965A>G (p.Ile989Val)
c.1846A>G (p.Ile616Val)
c.1108A>G (p.Ile370Val)
c.2629A>G (p.Ile877Val)
c.2893A>G (p.Ile965Val)
c.2129-772A>G (n.2129-772A>G)
n.2966A>G
n.3174A>G
c.2383A>G (p.Ile795Val)
c.1408A>G (p.Ile470Val)
c.2122A>G (p.Ile708Val)
c.3100A>G (p.Ile1034Val)
n.2918A>G
n.3126A>G
 dbSNP gnomAD v3 gnomAD v4
1g.197434828A>TCA344044059CRB1c.2965A>T (p.Ile989Leu)
c.1846A>T (p.Ile616Leu)
c.1108A>T (p.Ile370Leu)
c.2629A>T (p.Ile877Leu)
c.2893A>T (p.Ile965Leu)
c.2129-772A>T (n.2129-772A>T)
n.2966A>T
n.3174A>T
c.2383A>T (p.Ile795Leu)
c.1408A>T (p.Ile470Leu)
c.2122A>T (p.Ile708Leu)
c.3100A>T (p.Ile1034Leu)
n.2918A>T
n.3126A>T
1g.197434829T>ACA344044075CRB1c.2966T>A (p.Ile989Lys)
c.1847T>A (p.Ile616Lys)
c.1109T>A (p.Ile370Lys)
c.2630T>A (p.Ile877Lys)
c.2894T>A (p.Ile965Lys)
c.2129-771T>A (n.2129-771T>A)
n.2967T>A
n.3175T>A
c.2384T>A (p.Ile795Lys)
c.1409T>A (p.Ile470Lys)
c.2123T>A (p.Ile708Lys)
c.3101T>A (p.Ile1034Lys)
n.2919T>A
n.3127T>A
1g.197434829T>CCA344044069CRB1c.2966T>C (p.Ile989Thr)
c.1847T>C (p.Ile616Thr)
c.1109T>C (p.Ile370Thr)
c.2630T>C (p.Ile877Thr)
c.2894T>C (p.Ile965Thr)
c.2129-771T>C (n.2129-771T>C)
n.2967T>C
n.3175T>C
c.2384T>C (p.Ile795Thr)
c.1409T>C (p.Ile470Thr)
c.2123T>C (p.Ile708Thr)
c.3101T>C (p.Ile1034Thr)
n.2919T>C
n.3127T>C
 ClinVar
1g.197434829T>GCA344044073CRB1c.2966T>G (p.Ile989Arg)
c.1847T>G (p.Ile616Arg)
c.1109T>G (p.Ile370Arg)
c.2630T>G (p.Ile877Arg)
c.2894T>G (p.Ile965Arg)
c.2129-771T>G (n.2129-771T>G)
n.2967T>G
n.3175T>G
c.2384T>G (p.Ile795Arg)
c.1409T>G (p.Ile470Arg)
c.2123T>G (p.Ile708Arg)
c.3101T>G (p.Ile1034Arg)
n.2919T>G
n.3127T>G
1g.197434830A>CCA422672573CRB1c.2967A>C (p.Ile989=)
c.1848A>C (p.Ile616=)
c.1110A>C (p.Ile370=)
c.2631A>C (p.Ile877=)
c.2895A>C (p.Ile965=)
c.2129-770A>C (n.2129-770A>C)
n.2968A>C
n.3176A>C
c.2385A>C (p.Ile795=)
c.1410A>C (p.Ile470=)
c.2124A>C (p.Ile708=)
c.3102A>C (p.Ile1034=)
n.2920A>C
n.3128A>C
1g.197434830A>GCA344044077CRB1c.2967A>G (p.Ile989Met)
c.1848A>G (p.Ile616Met)
c.1110A>G (p.Ile370Met)
c.2631A>G (p.Ile877Met)
c.2895A>G (p.Ile965Met)
c.2129-770A>G (n.2129-770A>G)
n.2968A>G
n.3176A>G
c.2385A>G (p.Ile795Met)
c.1410A>G (p.Ile470Met)
c.2124A>G (p.Ile708Met)
c.3102A>G (p.Ile1034Met)
n.2920A>G
n.3128A>G
1g.197434830A>TCA422672574CRB1c.2967A>T (p.Ile989=)
c.1848A>T (p.Ile616=)
c.1110A>T (p.Ile370=)
c.2631A>T (p.Ile877=)
c.2895A>T (p.Ile965=)
c.2129-770A>T (n.2129-770A>T)
n.2968A>T
n.3176A>T
c.2385A>T (p.Ile795=)
c.1410A>T (p.Ile470=)
c.2124A>T (p.Ile708=)
c.3102A>T (p.Ile1034=)
n.2920A>T
n.3128A>T
 ClinVar
1g.197434831T>ACA1312252CRB1c.2968T>A (p.Leu990Met)
c.1849T>A (p.Leu617Met)
c.1111T>A (p.Leu371Met)
c.2632T>A (p.Leu878Met)
c.2896T>A (p.Leu966Met)
c.2129-769T>A (n.2129-769T>A)
n.2969T>A
n.3177T>A
c.2386T>A (p.Leu796Met)
c.1411T>A (p.Leu471Met)
c.2125T>A (p.Leu709Met)
c.3103T>A (p.Leu1035Met)
n.2921T>A
n.3129T>A
 dbSNP ExAC gnomAD v2
1g.197434831T>CCA422672575CRB1c.2968T>C (p.Leu990=)
c.1849T>C (p.Leu617=)
c.1111T>C (p.Leu371=)
c.2632T>C (p.Leu878=)
c.2896T>C (p.Leu966=)
c.2129-769T>C (n.2129-769T>C)
n.2969T>C
n.3177T>C
c.2386T>C (p.Leu796=)
c.1411T>C (p.Leu471=)
c.2125T>C (p.Leu709=)
c.3103T>C (p.Leu1035=)
n.2921T>C
n.3129T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197434831T>GCA344044091CRB1c.2968T>G (p.Leu990Val)
c.1849T>G (p.Leu617Val)
c.1111T>G (p.Leu371Val)
c.2632T>G (p.Leu878Val)
c.2896T>G (p.Leu966Val)
c.2129-769T>G (n.2129-769T>G)
n.2969T>G
n.3177T>G
c.2386T>G (p.Leu796Val)
c.1411T>G (p.Leu471Val)
c.2125T>G (p.Leu709Val)
c.3103T>G (p.Leu1035Val)
n.2921T>G
n.3129T>G
1g.197434831T=CA1218068685CRB1c.2968T= (p.Leu990=)
c.1849T= (p.Leu617=)
c.1111T= (p.Leu371=)
c.2632T= (p.Leu878=)
c.2896T= (p.Leu966=)
c.2129-769T= (n.2129-769T=)
n.2969T=
n.3177T=
c.2386T= (p.Leu796=)
c.1411T= (p.Leu471=)
c.2125T= (p.Leu709=)
c.3103T= (p.Leu1035=)
n.2921T=
n.3129T=
1g.197434832delCA2649670638CRB1c.2969del (p.Leu990CysfsTer?)
c.1850del (p.Leu617CysfsTer?)
c.1112del (p.Leu371CysfsTer?)
c.2633del (p.Leu878CysfsTer?)
c.2897del (p.Leu966CysfsTer?)
c.2129-768del (n.2129-768del)
n.2970del
n.3178del
c.2387del (p.Leu796CysfsTer?)
c.1412del (p.Leu471CysfsTer?)
c.2126del (p.Leu709CysfsTer?)
c.3104del (p.Leu1035CysfsTer?)
n.2922del
n.3130del
 ClinVar gnomAD v4
1g.197434832T>ACA344044098CRB1c.2969T>A (p.Leu990Ter)
c.1850T>A (p.Leu617Ter)
c.1112T>A (p.Leu371Ter)
c.2633T>A (p.Leu878Ter)
c.2897T>A (p.Leu966Ter)
c.2129-768T>A (n.2129-768T>A)
n.2970T>A
n.3178T>A
c.2387T>A (p.Leu796Ter)
c.1412T>A (p.Leu471Ter)
c.2126T>A (p.Leu709Ter)
c.3104T>A (p.Leu1035Ter)
n.2922T>A
n.3130T>A
1g.197434832T>CCA344044102CRB1c.2969T>C (p.Leu990Ser)
c.1850T>C (p.Leu617Ser)
c.1112T>C (p.Leu371Ser)
c.2633T>C (p.Leu878Ser)
c.2897T>C (p.Leu966Ser)
c.2129-768T>C (n.2129-768T>C)
n.2970T>C
n.3178T>C
c.2387T>C (p.Leu796Ser)
c.1412T>C (p.Leu471Ser)
c.2126T>C (p.Leu709Ser)
c.3104T>C (p.Leu1035Ser)
n.2922T>C
n.3130T>C
 dbSNP
1g.197434832T>GCA344044110CRB1c.2969T>G (p.Leu990Trp)
c.1850T>G (p.Leu617Trp)
c.1112T>G (p.Leu371Trp)
c.2633T>G (p.Leu878Trp)
c.2897T>G (p.Leu966Trp)
c.2129-768T>G (n.2129-768T>G)
n.2970T>G
n.3178T>G
c.2387T>G (p.Leu796Trp)
c.1412T>G (p.Leu471Trp)
c.2126T>G (p.Leu709Trp)
c.3104T>G (p.Leu1035Trp)
n.2922T>G
n.3130T>G
1g.197434832T=CA1218068686CRB1c.2969T= (p.Leu990=)
c.1850T= (p.Leu617=)
c.1112T= (p.Leu371=)
c.2633T= (p.Leu878=)
c.2897T= (p.Leu966=)
c.2129-768T= (n.2129-768T=)
n.2970T=
n.3178T=
c.2387T= (p.Leu796=)
c.1412T= (p.Leu471=)
c.2126T= (p.Leu709=)
c.3104T= (p.Leu1035=)
n.2922T=
n.3130T=
1g.197434833G>ACA422672576CRB1c.2970G>A (p.Leu990=)
c.1851G>A (p.Leu617=)
c.1113G>A (p.Leu371=)
c.2634G>A (p.Leu878=)
c.2898G>A (p.Leu966=)
c.2129-767G>A (n.2129-767G>A)
n.2971G>A
n.3179G>A
c.2388G>A (p.Leu796=)
c.1413G>A (p.Leu471=)
c.2127G>A (p.Leu709=)
c.3105G>A (p.Leu1035=)
n.2923G>A
n.3131G>A
1g.197434833G>CCA344044115CRB1c.2970G>C (p.Leu990Phe)
c.1851G>C (p.Leu617Phe)
c.1113G>C (p.Leu371Phe)
c.2634G>C (p.Leu878Phe)
c.2898G>C (p.Leu966Phe)
c.2129-767G>C (n.2129-767G>C)
n.2971G>C
n.3179G>C
c.2388G>C (p.Leu796Phe)
c.1413G>C (p.Leu471Phe)
c.2127G>C (p.Leu709Phe)
c.3105G>C (p.Leu1035Phe)
n.2923G>C
n.3131G>C
1g.197434833G>TCA344044130CRB1c.2970G>T (p.Leu990Phe)
c.1851G>T (p.Leu617Phe)
c.1113G>T (p.Leu371Phe)
c.2634G>T (p.Leu878Phe)
c.2898G>T (p.Leu966Phe)
c.2129-767G>T (n.2129-767G>T)
n.2971G>T
n.3179G>T
c.2388G>T (p.Leu796Phe)
c.1413G>T (p.Leu471Phe)
c.2127G>T (p.Leu709Phe)
c.3105G>T (p.Leu1035Phe)
n.2923G>T
n.3131G>T
1g.197434833_197434834delinsTTCA2580061838CRB1c.2970_2971delinsTT (p.Leu990_His991delinsPheTyr)
c.1851_1852delinsTT (p.Leu617_His618delinsPheTyr)
c.1113_1114delinsTT (p.Leu371_His372delinsPheTyr)
c.2634_2635delinsTT (p.Leu878_His879delinsPheTyr)
c.2898_2899delinsTT (p.Leu966_His967delinsPheTyr)
c.2129-767_2129-766delinsTT (n.2129-767_2129-766delinsTT)
n.2971_2972delinsTT
n.3179_3180delinsTT
c.2388_2389delinsTT (p.Leu796_His797delinsPheTyr)
c.1413_1414delinsTT (p.Leu471_His472delinsPheTyr)
c.2127_2128delinsTT (p.Leu709_His710delinsPheTyr)
c.3105_3106delinsTT (p.Leu1035_His1036delinsPheTyr)
n.2923_2924delinsTT
n.3131_3132delinsTT
 ClinVar dbSNP
1g.197434834C>ACA344044136CRB1c.2971C>A (p.His991Asn)
c.1852C>A (p.His618Asn)
c.1114C>A (p.His372Asn)
c.2635C>A (p.His879Asn)
c.2899C>A (p.His967Asn)
c.2129-766C>A (n.2129-766C>A)
n.2972C>A
n.3180C>A
c.2389C>A (p.His797Asn)
c.1414C>A (p.His472Asn)
c.2128C>A (p.His710Asn)
c.3106C>A (p.His1036Asn)
n.2924C>A
n.3132C>A
1g.197434834C>GCA344044140CRB1c.2971C>G (p.His991Asp)
c.1852C>G (p.His618Asp)
c.1114C>G (p.His372Asp)
c.2635C>G (p.His879Asp)
c.2899C>G (p.His967Asp)
c.2129-766C>G (n.2129-766C>G)
n.2972C>G
n.3180C>G
c.2389C>G (p.His797Asp)
c.1414C>G (p.His472Asp)
c.2128C>G (p.His710Asp)
c.3106C>G (p.His1036Asp)
n.2924C>G
n.3132C>G
1g.197434834C>TCA344044142CRB1c.2971C>T (p.His991Tyr)
c.1852C>T (p.His618Tyr)
c.1114C>T (p.His372Tyr)
c.2635C>T (p.His879Tyr)
c.2899C>T (p.His967Tyr)
c.2129-766C>T (n.2129-766C>T)
n.2972C>T
n.3180C>T
c.2389C>T (p.His797Tyr)
c.1414C>T (p.His472Tyr)
c.2128C>T (p.His710Tyr)
c.3106C>T (p.His1036Tyr)
n.2924C>T
n.3132C>T
1g.197434835A=CA1218068687CRB1c.2972A= (p.His991=)
c.1853A= (p.His618=)
c.1115A= (p.His372=)
c.2636A= (p.His879=)
c.2900A= (p.His967=)
c.2129-765A= (n.2129-765A=)
n.2973A=
n.3181A=
c.2390A= (p.His797=)
c.1415A= (p.His472=)
c.2129A= (p.His710=)
c.3107A= (p.His1036=)
n.2925A=
n.3133A=
1g.197434835A>CCA344044146CRB1c.2972A>C (p.His991Pro)
c.1853A>C (p.His618Pro)
c.1115A>C (p.His372Pro)
c.2636A>C (p.His879Pro)
c.2900A>C (p.His967Pro)
c.2129-765A>C (n.2129-765A>C)
n.2973A>C
n.3181A>C
c.2390A>C (p.His797Pro)
c.1415A>C (p.His472Pro)
c.2129A>C (p.His710Pro)
c.3107A>C (p.His1036Pro)
n.2925A>C
n.3133A>C
1g.197434835A>GCA344044151CRB1c.2972A>G (p.His991Arg)
c.1853A>G (p.His618Arg)
c.1115A>G (p.His372Arg)
c.2636A>G (p.His879Arg)
c.2900A>G (p.His967Arg)
c.2129-765A>G (n.2129-765A>G)
n.2973A>G
n.3181A>G
c.2390A>G (p.His797Arg)
c.1415A>G (p.His472Arg)
c.2129A>G (p.His710Arg)
c.3107A>G (p.His1036Arg)
n.2925A>G
n.3133A>G
 gnomAD v4
1g.197434835A>TCA344044152CRB1c.2972A>T (p.His991Leu)
c.1853A>T (p.His618Leu)
c.1115A>T (p.His372Leu)
c.2636A>T (p.His879Leu)
c.2900A>T (p.His967Leu)
c.2129-765A>T (n.2129-765A>T)
n.2973A>T
n.3181A>T
c.2390A>T (p.His797Leu)
c.1415A>T (p.His472Leu)
c.2129A>T (p.His710Leu)
c.3107A>T (p.His1036Leu)
n.2925A>T
n.3133A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197434836T>ACA344044169CRB1c.2973T>A (p.His991Gln)
c.1854T>A (p.His618Gln)
c.1116T>A (p.His372Gln)
c.2637T>A (p.His879Gln)
c.2901T>A (p.His967Gln)
c.2129-764T>A (n.2129-764T>A)
n.2974T>A
n.3182T>A
c.2391T>A (p.His797Gln)
c.1416T>A (p.His472Gln)
c.2130T>A (p.His710Gln)
c.3108T>A (p.His1036Gln)
n.2926T>A
n.3134T>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197434836T>CCA422672577CRB1c.2973T>C (p.His991=)
c.1854T>C (p.His618=)
c.1116T>C (p.His372=)
c.2637T>C (p.His879=)
c.2901T>C (p.His967=)
c.2129-764T>C (n.2129-764T>C)
n.2974T>C
n.3182T>C
c.2391T>C (p.His797=)
c.1416T>C (p.His472=)
c.2130T>C (p.His710=)
c.3108T>C (p.His1036=)
n.2926T>C
n.3134T>C
1g.197434836T>GCA344044156CRB1c.2973T>G (p.His991Gln)
c.1854T>G (p.His618Gln)
c.1116T>G (p.His372Gln)
c.2637T>G (p.His879Gln)
c.2901T>G (p.His967Gln)
c.2129-764T>G (n.2129-764T>G)
n.2974T>G
n.3182T>G
c.2391T>G (p.His797Gln)
c.1416T>G (p.His472Gln)
c.2130T>G (p.His710Gln)
c.3108T>G (p.His1036Gln)
n.2926T>G
n.3134T>G
1g.197434836T=CA1218068688CRB1c.2973T= (p.His991=)
c.1854T= (p.His618=)
c.1116T= (p.His372=)
c.2637T= (p.His879=)
c.2901T= (p.His967=)
c.2129-764T= (n.2129-764T=)
n.2974T=
n.3182T=
c.2391T= (p.His797=)
c.1416T= (p.His472=)
c.2130T= (p.His710=)
c.3108T= (p.His1036=)
n.2926T=
n.3134T=
1g.197434837G>ACA344044175CRB1c.2974G>A (p.Ala992Thr)
c.1855G>A (p.Ala619Thr)
c.1117G>A (p.Ala373Thr)
c.2638G>A (p.Ala880Thr)
c.2902G>A (p.Ala968Thr)
c.2129-763G>A (n.2129-763G>A)
n.2975G>A
n.3183G>A
c.2392G>A (p.Ala798Thr)
c.1417G>A (p.Ala473Thr)
c.2131G>A (p.Ala711Thr)
c.3109G>A (p.Ala1037Thr)
n.2927G>A
n.3135G>A
1g.197434837G>CCA344044176CRB1c.2974G>C (p.Ala992Pro)
c.1855G>C (p.Ala619Pro)
c.1117G>C (p.Ala373Pro)
c.2638G>C (p.Ala880Pro)
c.2902G>C (p.Ala968Pro)
c.2129-763G>C (n.2129-763G>C)
n.2975G>C
n.3183G>C
c.2392G>C (p.Ala798Pro)
c.1417G>C (p.Ala473Pro)
c.2131G>C (p.Ala711Pro)
c.3109G>C (p.Ala1037Pro)
n.2927G>C
n.3135G>C
1g.197434837G>TCA344044177CRB1c.2974G>T (p.Ala992Ser)
c.1855G>T (p.Ala619Ser)
c.1117G>T (p.Ala373Ser)
c.2638G>T (p.Ala880Ser)
c.2902G>T (p.Ala968Ser)
c.2129-763G>T (n.2129-763G>T)
n.2975G>T
n.3183G>T
c.2392G>T (p.Ala798Ser)
c.1417G>T (p.Ala473Ser)
c.2131G>T (p.Ala711Ser)
c.3109G>T (p.Ala1037Ser)
n.2927G>T
n.3135G>T
1g.197434838C>ACA344044181CRB1c.2975C>A (p.Ala992Glu)
c.1856C>A (p.Ala619Glu)
c.1118C>A (p.Ala373Glu)
c.2639C>A (p.Ala880Glu)
c.2903C>A (p.Ala968Glu)
c.2129-762C>A (n.2129-762C>A)
n.2976C>A
n.3184C>A
c.2393C>A (p.Ala798Glu)
c.1418C>A (p.Ala473Glu)
c.2132C>A (p.Ala711Glu)
c.3110C>A (p.Ala1037Glu)
n.2928C>A
n.3136C>A
1g.197434838C>GCA344044184CRB1c.2975C>G (p.Ala992Gly)
c.1856C>G (p.Ala619Gly)
c.1118C>G (p.Ala373Gly)
c.2639C>G (p.Ala880Gly)
c.2903C>G (p.Ala968Gly)
c.2129-762C>G (n.2129-762C>G)
n.2976C>G
n.3184C>G
c.2393C>G (p.Ala798Gly)
c.1418C>G (p.Ala473Gly)
c.2132C>G (p.Ala711Gly)
c.3110C>G (p.Ala1037Gly)
n.2928C>G
n.3136C>G
1g.197434838C>TCA344044188CRB1c.2975C>T (p.Ala992Val)
c.1856C>T (p.Ala619Val)
c.1118C>T (p.Ala373Val)
c.2639C>T (p.Ala880Val)
c.2903C>T (p.Ala968Val)
c.2129-762C>T (n.2129-762C>T)
n.2976C>T
n.3184C>T
c.2393C>T (p.Ala798Val)
c.1418C>T (p.Ala473Val)
c.2132C>T (p.Ala711Val)
c.3110C>T (p.Ala1037Val)
n.2928C>T
n.3136C>T
1g.197434839A=CA1143413441CRB1c.2976A= (p.Ala992=)
c.1857A= (p.Ala619=)
c.1119A= (p.Ala373=)
c.2640A= (p.Ala880=)
c.2904A= (p.Ala968=)
c.2129-761A= (n.2129-761A=)
n.2977A=
n.3185A=
c.2394A= (p.Ala798=)
c.1419A= (p.Ala473=)
c.2133A= (p.Ala711=)
c.3111A= (p.Ala1037=)
n.2929A=
n.3137A=
1g.197434839A>CCA422672578CRB1c.2976A>C (p.Ala992=)
c.1857A>C (p.Ala619=)
c.1119A>C (p.Ala373=)
c.2640A>C (p.Ala880=)
c.2904A>C (p.Ala968=)
c.2129-761A>C (n.2129-761A>C)
n.2977A>C
n.3185A>C
c.2394A>C (p.Ala798=)
c.1419A>C (p.Ala473=)
c.2133A>C (p.Ala711=)
c.3111A>C (p.Ala1037=)
n.2929A>C
n.3137A>C
1g.197434839A>GCA1312253CRB1c.2976A>G (p.Ala992=)
c.1857A>G (p.Ala619=)
c.1119A>G (p.Ala373=)
c.2640A>G (p.Ala880=)
c.2904A>G (p.Ala968=)
c.2129-761A>G (n.2129-761A>G)
n.2977A>G
n.3185A>G
c.2394A>G (p.Ala798=)
c.1419A>G (p.Ala473=)
c.2133A>G (p.Ala711=)
c.3111A>G (p.Ala1037=)
n.2929A>G
n.3137A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434839A>TCA422672579CRB1c.2976A>T (p.Ala992=)
c.1857A>T (p.Ala619=)
c.1119A>T (p.Ala373=)
c.2640A>T (p.Ala880=)
c.2904A>T (p.Ala968=)
c.2129-761A>T (n.2129-761A>T)
n.2977A>T
n.3185A>T
c.2394A>T (p.Ala798=)
c.1419A>T (p.Ala473=)
c.2133A>T (p.Ala711=)
c.3111A>T (p.Ala1037=)
n.2929A>T
n.3137A>T
1g.197434840G>ACA1312254CRB1c.2977G>A (p.Glu993Lys)
c.1858G>A (p.Glu620Lys)
c.1120G>A (p.Glu374Lys)
c.2641G>A (p.Glu881Lys)
c.2905G>A (p.Glu969Lys)
c.2129-760G>A (n.2129-760G>A)
n.2978G>A
n.3186G>A
c.2395G>A (p.Glu799Lys)
c.1420G>A (p.Glu474Lys)
c.2134G>A (p.Glu712Lys)
c.3112G>A (p.Glu1038Lys)
n.2930G>A
n.3138G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434840G>CCA344044202CRB1c.2977G>C (p.Glu993Gln)
c.1858G>C (p.Glu620Gln)
c.1120G>C (p.Glu374Gln)
c.2641G>C (p.Glu881Gln)
c.2905G>C (p.Glu969Gln)
c.2129-760G>C (n.2129-760G>C)
n.2978G>C
n.3186G>C
c.2395G>C (p.Glu799Gln)
c.1420G>C (p.Glu474Gln)
c.2134G>C (p.Glu712Gln)
c.3112G>C (p.Glu1038Gln)
n.2930G>C
n.3138G>C
 COSMIC COSMIC
1g.197434840G=CA1142405515CRB1c.2977G= (p.Glu993=)
c.1858G= (p.Glu620=)
c.1120G= (p.Glu374=)
c.2641G= (p.Glu881=)
c.2905G= (p.Glu969=)
c.2129-760G= (n.2129-760G=)
n.2978G=
n.3186G=
c.2395G= (p.Glu799=)
c.1420G= (p.Glu474=)
c.2134G= (p.Glu712=)
c.3112G= (p.Glu1038=)
n.2930G=
n.3138G=
1g.197434840G>TCA344044208CRB1c.2977G>T (p.Glu993Ter)
c.1858G>T (p.Glu620Ter)
c.1120G>T (p.Glu374Ter)
c.2641G>T (p.Glu881Ter)
c.2905G>T (p.Glu969Ter)
c.2129-760G>T (n.2129-760G>T)
n.2978G>T
n.3186G>T
c.2395G>T (p.Glu799Ter)
c.1420G>T (p.Glu474Ter)
c.2134G>T (p.Glu712Ter)
c.3112G>T (p.Glu1038Ter)
n.2930G>T
n.3138G>T
1g.197434841A=CA1218068689CRB1c.2978A= (p.Glu993=)
c.1859A= (p.Glu620=)
c.1121A= (p.Glu374=)
c.2642A= (p.Glu881=)
c.2906A= (p.Glu969=)
c.2129-759A= (n.2129-759A=)
n.2979A=
n.3187A=
c.2396A= (p.Glu799=)
c.1421A= (p.Glu474=)
c.2135A= (p.Glu712=)
c.3113A= (p.Glu1038=)
n.2931A=
n.3139A=
1g.197434841A>CCA344044223CRB1c.2978A>C (p.Glu993Ala)
c.1859A>C (p.Glu620Ala)
c.1121A>C (p.Glu374Ala)
c.2642A>C (p.Glu881Ala)
c.2906A>C (p.Glu969Ala)
c.2129-759A>C (n.2129-759A>C)
n.2979A>C
n.3187A>C
c.2396A>C (p.Glu799Ala)
c.1421A>C (p.Glu474Ala)
c.2135A>C (p.Glu712Ala)
c.3113A>C (p.Glu1038Ala)
n.2931A>C
n.3139A>C
1g.197434841A>GCA344044226CRB1c.2978A>G (p.Glu993Gly)
c.1859A>G (p.Glu620Gly)
c.1121A>G (p.Glu374Gly)
c.2642A>G (p.Glu881Gly)
c.2906A>G (p.Glu969Gly)
c.2129-759A>G (n.2129-759A>G)
n.2979A>G
n.3187A>G
c.2396A>G (p.Glu799Gly)
c.1421A>G (p.Glu474Gly)
c.2135A>G (p.Glu712Gly)
c.3113A>G (p.Glu1038Gly)
n.2931A>G
n.3139A>G
 dbSNP gnomAD v2 gnomAD v4
1g.197434841A>TCA344044233CRB1c.2978A>T (p.Glu993Val)
c.1859A>T (p.Glu620Val)
c.1121A>T (p.Glu374Val)
c.2642A>T (p.Glu881Val)
c.2906A>T (p.Glu969Val)
c.2129-759A>T (n.2129-759A>T)
n.2979A>T
n.3187A>T
c.2396A>T (p.Glu799Val)
c.1421A>T (p.Glu474Val)
c.2135A>T (p.Glu712Val)
c.3113A>T (p.Glu1038Val)
n.2931A>T
n.3139A>T
1g.197434844_197434845delCA2586967863CRB1c.2981_2982del (p.Lys994ArgfsTer3)
c.1862_1863del (p.Lys621ArgfsTer3)
c.1124_1125del (p.Lys375ArgfsTer3)
c.2645_2646del (p.Lys882ArgfsTer3)
c.2909_2910del (p.Lys970ArgfsTer3)
c.2129-756_2129-755del (n.2129-756_2129-755del)
n.2982_2983del
n.3190_3191del
c.2399_2400del (p.Lys800ArgfsTer3)
c.1424_1425del (p.Lys475ArgfsTer3)
c.2138_2139del (p.Lys713ArgfsTer3)
c.3116_3117del (p.Lys1039ArgfsTer3)
n.2934_2935del
n.3142_3143del
 ClinVar
1g.197434842A=CA1146551840CRB1c.2979A= (p.Glu993=)
c.1860A= (p.Glu620=)
c.1122A= (p.Glu374=)
c.2643A= (p.Glu881=)
c.2907A= (p.Glu969=)
c.2129-758A= (n.2129-758A=)
n.2980A=
n.3188A=
c.2397A= (p.Glu799=)
c.1422A= (p.Glu474=)
c.2136A= (p.Glu712=)
c.3114A= (p.Glu1038=)
n.2932A=
n.3140A=
1g.197434842A>CCA344044237CRB1c.2979A>C (p.Glu993Asp)
c.1860A>C (p.Glu620Asp)
c.1122A>C (p.Glu374Asp)
c.2643A>C (p.Glu881Asp)
c.2907A>C (p.Glu969Asp)
c.2129-758A>C (n.2129-758A>C)
n.2980A>C
n.3188A>C
c.2397A>C (p.Glu799Asp)
c.1422A>C (p.Glu474Asp)
c.2136A>C (p.Glu712Asp)
c.3114A>C (p.Glu1038Asp)
n.2932A>C
n.3140A>C
1g.197434842A>GCA1312255CRB1c.2979A>G (p.Glu993=)
c.1860A>G (p.Glu620=)
c.1122A>G (p.Glu374=)
c.2643A>G (p.Glu881=)
c.2907A>G (p.Glu969=)
c.2129-758A>G (n.2129-758A>G)
n.2980A>G
n.3188A>G
c.2397A>G (p.Glu799=)
c.1422A>G (p.Glu474=)
c.2136A>G (p.Glu712=)
c.3114A>G (p.Glu1038=)
n.2932A>G
n.3140A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434842A>TCA344044242CRB1c.2979A>T (p.Glu993Asp)
c.1860A>T (p.Glu620Asp)
c.1122A>T (p.Glu374Asp)
c.2643A>T (p.Glu881Asp)
c.2907A>T (p.Glu969Asp)
c.2129-758A>T (n.2129-758A>T)
n.2980A>T
n.3188A>T
c.2397A>T (p.Glu799Asp)
c.1422A>T (p.Glu474Asp)
c.2136A>T (p.Glu712Asp)
c.3114A>T (p.Glu1038Asp)
n.2932A>T
n.3140A>T
1g.197434843A>CCA344044251CRB1c.2980A>C (p.Lys994Gln)
c.1861A>C (p.Lys621Gln)
c.1123A>C (p.Lys375Gln)
c.2644A>C (p.Lys882Gln)
c.2908A>C (p.Lys970Gln)
c.2129-757A>C (n.2129-757A>C)
n.2981A>C
n.3189A>C
c.2398A>C (p.Lys800Gln)
c.1423A>C (p.Lys475Gln)
c.2137A>C (p.Lys713Gln)
c.3115A>C (p.Lys1039Gln)
n.2933A>C
n.3141A>C
1g.197434843A>GCA344044254CRB1c.2980A>G (p.Lys994Glu)
c.1861A>G (p.Lys621Glu)
c.1123A>G (p.Lys375Glu)
c.2644A>G (p.Lys882Glu)
c.2908A>G (p.Lys970Glu)
c.2129-757A>G (n.2129-757A>G)
n.2981A>G
n.3189A>G
c.2398A>G (p.Lys800Glu)
c.1423A>G (p.Lys475Glu)
c.2137A>G (p.Lys713Glu)
c.3115A>G (p.Lys1039Glu)
n.2933A>G
n.3141A>G
 ClinVar dbSNP gnomAD v4
1g.197434843A>TCA344044273CRB1c.2980A>T (p.Lys994Ter)
c.1861A>T (p.Lys621Ter)
c.1123A>T (p.Lys375Ter)
c.2644A>T (p.Lys882Ter)
c.2908A>T (p.Lys970Ter)
c.2129-757A>T (n.2129-757A>T)
n.2981A>T
n.3189A>T
c.2398A>T (p.Lys800Ter)
c.1423A>T (p.Lys475Ter)
c.2137A>T (p.Lys713Ter)
c.3115A>T (p.Lys1039Ter)
n.2933A>T
n.3141A>T
1g.197434845_197434927dupCA2740090447CRB1c.2982_3064dup (p.Ser1022LysfsTer28)
c.1863_1945dup (p.Ser649LysfsTer28)
c.1125_1207dup (p.Ser403LysfsTer28)
c.2646_2728dup (p.Ser910LysfsTer28)
c.2910_2992dup (p.Ser998LysfsTer28)
c.2129-755_2129-673dup (n.2129-755_2129-673dup)
n.2983_3065dup
n.3191_3273dup
c.2400_2482dup (p.Ser828LysfsTer28)
c.1425_1507dup (p.Ser503LysfsTer28)
c.2139_2221dup (p.Ser741LysfsTer28)
c.3117_3199dup (p.Ser1067LysfsTer28)
n.2935_3017dup
n.3143_3225dup
 ClinVar
1g.197434844A>CCA344044278CRB1c.2981A>C (p.Lys994Thr)
c.1862A>C (p.Lys621Thr)
c.1124A>C (p.Lys375Thr)
c.2645A>C (p.Lys882Thr)
c.2909A>C (p.Lys970Thr)
c.2129-756A>C (n.2129-756A>C)
n.2982A>C
n.3190A>C
c.2399A>C (p.Lys800Thr)
c.1424A>C (p.Lys475Thr)
c.2138A>C (p.Lys713Thr)
c.3116A>C (p.Lys1039Thr)
n.2934A>C
n.3142A>C
1g.197434844A>GCA344044279CRB1c.2981A>G (p.Lys994Arg)
c.1862A>G (p.Lys621Arg)
c.1124A>G (p.Lys375Arg)
c.2645A>G (p.Lys882Arg)
c.2909A>G (p.Lys970Arg)
c.2129-756A>G (n.2129-756A>G)
n.2982A>G
n.3190A>G
c.2399A>G (p.Lys800Arg)
c.1424A>G (p.Lys475Arg)
c.2138A>G (p.Lys713Arg)
c.3116A>G (p.Lys1039Arg)
n.2934A>G
n.3142A>G
1g.197434844A>TCA344044280CRB1c.2981A>T (p.Lys994Ile)
c.1862A>T (p.Lys621Ile)
c.1124A>T (p.Lys375Ile)
c.2645A>T (p.Lys882Ile)
c.2909A>T (p.Lys970Ile)
c.2129-756A>T (n.2129-756A>T)
n.2982A>T
n.3190A>T
c.2399A>T (p.Lys800Ile)
c.1424A>T (p.Lys475Ile)
c.2138A>T (p.Lys713Ile)
c.3116A>T (p.Lys1039Ile)
n.2934A>T
n.3142A>T
1g.197434845A>CCA344044288CRB1c.2982A>C (p.Lys994Asn)
c.1863A>C (p.Lys621Asn)
c.1125A>C (p.Lys375Asn)
c.2646A>C (p.Lys882Asn)
c.2910A>C (p.Lys970Asn)
c.2129-755A>C (n.2129-755A>C)
n.2983A>C
n.3191A>C
c.2400A>C (p.Lys800Asn)
c.1425A>C (p.Lys475Asn)
c.2139A>C (p.Lys713Asn)
c.3117A>C (p.Lys1039Asn)
n.2935A>C
n.3143A>C
1g.197434845A>GCA422672580CRB1c.2982A>G (p.Lys994=)
c.1863A>G (p.Lys621=)
c.1125A>G (p.Lys375=)
c.2646A>G (p.Lys882=)
c.2910A>G (p.Lys970=)
c.2129-755A>G (n.2129-755A>G)
n.2983A>G
n.3191A>G
c.2400A>G (p.Lys800=)
c.1425A>G (p.Lys475=)
c.2139A>G (p.Lys713=)
c.3117A>G (p.Lys1039=)
n.2935A>G
n.3143A>G
1g.197434845A>TCA344044291CRB1c.2982A>T (p.Lys994Asn)
c.1863A>T (p.Lys621Asn)
c.1125A>T (p.Lys375Asn)
c.2646A>T (p.Lys882Asn)
c.2910A>T (p.Lys970Asn)
c.2129-755A>T (n.2129-755A>T)
n.2983A>T
n.3191A>T
c.2400A>T (p.Lys800Asn)
c.1425A>T (p.Lys475Asn)
c.2139A>T (p.Lys713Asn)
c.3117A>T (p.Lys1039Asn)
n.2935A>T
n.3143A>T
1g.197434846G>ACA1312256CRB1c.2983G>A (p.Glu995Lys)
c.1864G>A (p.Glu622Lys)
c.1126G>A (p.Glu376Lys)
c.2647G>A (p.Glu883Lys)
c.2911G>A (p.Glu971Lys)
c.2129-754G>A (n.2129-754G>A)
n.2984G>A
n.3192G>A
c.2401G>A (p.Glu801Lys)
c.1426G>A (p.Glu476Lys)
c.2140G>A (p.Glu714Lys)
c.3118G>A (p.Glu1040Lys)
n.2936G>A
n.3144G>A
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
1g.197434846G>CCA344044299CRB1c.2983G>C (p.Glu995Gln)
c.1864G>C (p.Glu622Gln)
c.1126G>C (p.Glu376Gln)
c.2647G>C (p.Glu883Gln)
c.2911G>C (p.Glu971Gln)
c.2129-754G>C (n.2129-754G>C)
n.2984G>C
n.3192G>C
c.2401G>C (p.Glu801Gln)
c.1426G>C (p.Glu476Gln)
c.2140G>C (p.Glu714Gln)
c.3118G>C (p.Glu1040Gln)
n.2936G>C
n.3144G>C
 dbSNP gnomAD v2 gnomAD v4
1g.197434846G=CA1140762958CRB1c.2983G= (p.Glu995=)
c.1864G= (p.Glu622=)
c.1126G= (p.Glu376=)
c.2647G= (p.Glu883=)
c.2911G= (p.Glu971=)
c.2129-754G= (n.2129-754G=)
n.2984G=
n.3192G=
c.2401G= (p.Glu801=)
c.1426G= (p.Glu476=)
c.2140G= (p.Glu714=)
c.3118G= (p.Glu1040=)
n.2936G=
n.3144G=
1g.197434846G>TCA228028CRB1c.2983G>T (p.Glu995Ter)
c.1864G>T (p.Glu622Ter)
c.1126G>T (p.Glu376Ter)
c.2647G>T (p.Glu883Ter)
c.2911G>T (p.Glu971Ter)
c.2129-754G>T (n.2129-754G>T)
n.2984G>T
n.3192G>T
c.2401G>T (p.Glu801Ter)
c.1426G>T (p.Glu476Ter)
c.2140G>T (p.Glu714Ter)
c.3118G>T (p.Glu1040Ter)
n.2936G>T
n.3144G>T
 ClinVar dbSNP
1g.197434847A=CA1218068690CRB1c.2984A= (p.Glu995=)
c.1865A= (p.Glu622=)
c.1127A= (p.Glu376=)
c.2648A= (p.Glu883=)
c.2912A= (p.Glu971=)
c.2129-753A= (n.2129-753A=)
n.2985A=
n.3193A=
c.2402A= (p.Glu801=)
c.1427A= (p.Glu476=)
c.2141A= (p.Glu714=)
c.3119A= (p.Glu1040=)
n.2937A=
n.3145A=
1g.197434847A>CCA344044301CRB1c.2984A>C (p.Glu995Ala)
c.1865A>C (p.Glu622Ala)
c.1127A>C (p.Glu376Ala)
c.2648A>C (p.Glu883Ala)
c.2912A>C (p.Glu971Ala)
c.2129-753A>C (n.2129-753A>C)
n.2985A>C
n.3193A>C
c.2402A>C (p.Glu801Ala)
c.1427A>C (p.Glu476Ala)
c.2141A>C (p.Glu714Ala)
c.3119A>C (p.Glu1040Ala)
n.2937A>C
n.3145A>C
1g.197434847A>GCA1312257CRB1c.2984A>G (p.Glu995Gly)
c.1865A>G (p.Glu622Gly)
c.1127A>G (p.Glu376Gly)
c.2648A>G (p.Glu883Gly)
c.2912A>G (p.Glu971Gly)
c.2129-753A>G (n.2129-753A>G)
n.2985A>G
n.3193A>G
c.2402A>G (p.Glu801Gly)
c.1427A>G (p.Glu476Gly)
c.2141A>G (p.Glu714Gly)
c.3119A>G (p.Glu1040Gly)
n.2937A>G
n.3145A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434847A>TCA344044305CRB1c.2984A>T (p.Glu995Val)
c.1865A>T (p.Glu622Val)
c.1127A>T (p.Glu376Val)
c.2648A>T (p.Glu883Val)
c.2912A>T (p.Glu971Val)
c.2129-753A>T (n.2129-753A>T)
n.2985A>T
n.3193A>T
c.2402A>T (p.Glu801Val)
c.1427A>T (p.Glu476Val)
c.2141A>T (p.Glu714Val)
c.3119A>T (p.Glu1040Val)
n.2937A>T
n.3145A>T
 COSMIC COSMIC
1g.197434848G>ACA422672582CRB1c.2985G>A (p.Glu995=)
c.1866G>A (p.Glu622=)
c.1128G>A (p.Glu376=)
c.2649G>A (p.Glu883=)
c.2913G>A (p.Glu971=)
c.2129-752G>A (n.2129-752G>A)
n.2986G>A
n.3194G>A
c.2403G>A (p.Glu801=)
c.1428G>A (p.Glu476=)
c.2142G>A (p.Glu714=)
c.3120G>A (p.Glu1040=)
n.2938G>A
n.3146G>A
 gnomAD v4
1g.197434848G>CCA344044312CRB1c.2985G>C (p.Glu995Asp)
c.1866G>C (p.Glu622Asp)
c.1128G>C (p.Glu376Asp)
c.2649G>C (p.Glu883Asp)
c.2913G>C (p.Glu971Asp)
c.2129-752G>C (n.2129-752G>C)
n.2986G>C
n.3194G>C
c.2403G>C (p.Glu801Asp)
c.1428G>C (p.Glu476Asp)
c.2142G>C (p.Glu714Asp)
c.3120G>C (p.Glu1040Asp)
n.2938G>C
n.3146G>C
1g.197434848G=CA1148563041CRB1c.2985G= (p.Glu995=)
c.1866G= (p.Glu622=)
c.1128G= (p.Glu376=)
c.2649G= (p.Glu883=)
c.2913G= (p.Glu971=)
c.2129-752G= (n.2129-752G=)
n.2986G=
n.3194G=
c.2403G= (p.Glu801=)
c.1428G= (p.Glu476=)
c.2142G= (p.Glu714=)
c.3120G= (p.Glu1040=)
n.2938G=
n.3146G=
1g.197434848G>TCA1312258CRB1c.2985G>T (p.Glu995Asp)
c.1866G>T (p.Glu622Asp)
c.1128G>T (p.Glu376Asp)
c.2649G>T (p.Glu883Asp)
c.2913G>T (p.Glu971Asp)
c.2129-752G>T (n.2129-752G>T)
n.2986G>T
n.3194G>T
c.2403G>T (p.Glu801Asp)
c.1428G>T (p.Glu476Asp)
c.2142G>T (p.Glu714Asp)
c.3120G>T (p.Glu1040Asp)
n.2938G>T
n.3146G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197434849C>ACA344044315CRB1c.2986C>A (p.Pro996Thr)
c.1867C>A (p.Pro623Thr)
c.1129C>A (p.Pro377Thr)
c.2650C>A (p.Pro884Thr)
c.2914C>A (p.Pro972Thr)
c.2129-751C>A (n.2129-751C>A)
n.2987C>A
n.3195C>A
c.2404C>A (p.Pro802Thr)
c.1429C>A (p.Pro477Thr)
c.2143C>A (p.Pro715Thr)
c.3121C>A (p.Pro1041Thr)
n.2939C>A
n.3147C>A
 gnomAD v4
1g.197434849C>GCA344044317CRB1c.2986C>G (p.Pro996Ala)
c.1867C>G (p.Pro623Ala)
c.1129C>G (p.Pro377Ala)
c.2650C>G (p.Pro884Ala)
c.2914C>G (p.Pro972Ala)
c.2129-751C>G (n.2129-751C>G)
n.2987C>G
n.3195C>G
c.2404C>G (p.Pro802Ala)
c.1429C>G (p.Pro477Ala)
c.2143C>G (p.Pro715Ala)
c.3121C>G (p.Pro1041Ala)
n.2939C>G
n.3147C>G
 gnomAD v4
1g.197434849C>TCA344044320CRB1c.2986C>T (p.Pro996Ser)
c.1867C>T (p.Pro623Ser)
c.1129C>T (p.Pro377Ser)
c.2650C>T (p.Pro884Ser)
c.2914C>T (p.Pro972Ser)
c.2129-751C>T (n.2129-751C>T)
n.2987C>T
n.3195C>T
c.2404C>T (p.Pro802Ser)
c.1429C>T (p.Pro477Ser)
c.2143C>T (p.Pro715Ser)
c.3121C>T (p.Pro1041Ser)
n.2939C>T
n.3147C>T
1g.197434849_197434850insATTTGCAATACCA1218068691CRB1c.2986_2987insATTTGCAATAC (p.Pro996HisfsTer30)
c.1867_1868insATTTGCAATAC (p.Pro623HisfsTer30)
c.1129_1130insATTTGCAATAC (p.Pro377HisfsTer30)
c.2650_2651insATTTGCAATAC (p.Pro884HisfsTer30)
c.2914_2915insATTTGCAATAC (p.Pro972HisfsTer30)
c.2129-751_2129-750insATTTGCAATAC (n.2129-751_2129-750insATTTGCAATAC)
n.2987_2988insATTTGCAATAC
n.3195_3196insATTTGCAATAC
c.2404_2405insATTTGCAATAC (p.Pro802HisfsTer30)
c.1429_1430insATTTGCAATAC (p.Pro477HisfsTer30)
c.2143_2144insATTTGCAATAC (p.Pro715HisfsTer30)
c.3121_3122insATTTGCAATAC (p.Pro1041HisfsTer30)
n.2939_2940insATTTGCAATAC
n.3147_3148insATTTGCAATAC
 dbSNP
1g.197434850C>ACA344044326CRB1c.2987C>A (p.Pro996His)
c.1868C>A (p.Pro623His)
c.1130C>A (p.Pro377His)
c.2651C>A (p.Pro884His)
c.2915C>A (p.Pro972His)
c.2129-750C>A (n.2129-750C>A)
n.2988C>A
n.3196C>A
c.2405C>A (p.Pro802His)
c.1430C>A (p.Pro477His)
c.2144C>A (p.Pro715His)
c.3122C>A (p.Pro1041His)
n.2940C>A
n.3148C>A
1g.197434850C>GCA344044327CRB1c.2987C>G (p.Pro996Arg)
c.1868C>G (p.Pro623Arg)
c.1130C>G (p.Pro377Arg)
c.2651C>G (p.Pro884Arg)
c.2915C>G (p.Pro972Arg)
c.2129-750C>G (n.2129-750C>G)
n.2988C>G
n.3196C>G
c.2405C>G (p.Pro802Arg)
c.1430C>G (p.Pro477Arg)
c.2144C>G (p.Pro715Arg)
c.3122C>G (p.Pro1041Arg)
n.2940C>G
n.3148C>G
1g.197434850C>TCA344044328CRB1c.2987C>T (p.Pro996Leu)
c.1868C>T (p.Pro623Leu)
c.1130C>T (p.Pro377Leu)
c.2651C>T (p.Pro884Leu)
c.2915C>T (p.Pro972Leu)
c.2129-750C>T (n.2129-750C>T)
n.2988C>T
n.3196C>T
c.2405C>T (p.Pro802Leu)
c.1430C>T (p.Pro477Leu)
c.2144C>T (p.Pro715Leu)
c.3122C>T (p.Pro1041Leu)
n.2940C>T
n.3148C>T
1g.197434851T>ACA422672585CRB1c.2988T>A (p.Pro996=)
c.1869T>A (p.Pro623=)
c.1131T>A (p.Pro377=)
c.2652T>A (p.Pro884=)
c.2916T>A (p.Pro972=)
c.2129-749T>A (n.2129-749T>A)
n.2989T>A
n.3197T>A
c.2406T>A (p.Pro802=)
c.1431T>A (p.Pro477=)
c.2145T>A (p.Pro715=)
c.3123T>A (p.Pro1041=)
n.2941T>A
n.3149T>A
1g.197434851T>CCA422672586CRB1c.2988T>C (p.Pro996=)
c.1869T>C (p.Pro623=)
c.1131T>C (p.Pro377=)
c.2652T>C (p.Pro884=)
c.2916T>C (p.Pro972=)
c.2129-749T>C (n.2129-749T>C)
n.2989T>C
n.3197T>C
c.2406T>C (p.Pro802=)
c.1431T>C (p.Pro477=)
c.2145T>C (p.Pro715=)
c.3123T>C (p.Pro1041=)
n.2941T>C
n.3149T>C
1g.197434851T>GCA422672587CRB1c.2988T>G (p.Pro996=)
c.1869T>G (p.Pro623=)
c.1131T>G (p.Pro377=)
c.2652T>G (p.Pro884=)
c.2916T>G (p.Pro972=)
c.2129-749T>G (n.2129-749T>G)
n.2989T>G
n.3197T>G
c.2406T>G (p.Pro802=)
c.1431T>G (p.Pro477=)
c.2145T>G (p.Pro715=)
c.3123T>G (p.Pro1041=)
n.2941T>G
n.3149T>G
1g.197434851T=CA1218068692CRB1c.2988T= (p.Pro996=)
c.1869T= (p.Pro623=)
c.1131T= (p.Pro377=)
c.2652T= (p.Pro884=)
c.2916T= (p.Pro972=)
c.2129-749T= (n.2129-749T=)
n.2989T=
n.3197T=
c.2406T= (p.Pro802=)
c.1431T= (p.Pro477=)
c.2145T= (p.Pro715=)
c.3123T= (p.Pro1041=)
n.2941T=
n.3149T=
1g.197434851_197434852insAATGACA1218068693CRB1c.2988_2989insAATGA (p.Glu997AsnfsTer27)
c.1869_1870insAATGA (p.Glu624AsnfsTer27)
c.1131_1132insAATGA (p.Glu378AsnfsTer27)
c.2652_2653insAATGA (p.Glu885AsnfsTer27)
c.2916_2917insAATGA (p.Glu973AsnfsTer27)
c.2129-749_2129-748insAATGA (n.2129-749_2129-748insAATGA)
n.2989_2990insAATGA
n.3197_3198insAATGA
c.2406_2407insAATGA (p.Glu803AsnfsTer27)
c.1431_1432insAATGA (p.Glu478AsnfsTer27)
c.2145_2146insAATGA (p.Glu716AsnfsTer27)
c.3123_3124insAATGA (p.Glu1042AsnfsTer27)
n.2941_2942insAATGA
n.3149_3150insAATGA
 dbSNP
1g.197434852G>ACA344044331CRB1c.2989G>A (p.Glu997Lys)
c.1870G>A (p.Glu624Lys)
c.1132G>A (p.Glu378Lys)
c.2653G>A (p.Glu885Lys)
c.2917G>A (p.Glu973Lys)
c.2129-748G>A (n.2129-748G>A)
n.2990G>A
n.3198G>A
c.2407G>A (p.Glu803Lys)
c.1432G>A (p.Glu478Lys)
c.2146G>A (p.Glu716Lys)
c.3124G>A (p.Glu1042Lys)
n.2942G>A
n.3150G>A
1g.197434852G>CCA344044329CRB1c.2989G>C (p.Glu997Gln)
c.1870G>C (p.Glu624Gln)
c.1132G>C (p.Glu378Gln)
c.2653G>C (p.Glu885Gln)
c.2917G>C (p.Glu973Gln)
c.2129-748G>C (n.2129-748G>C)
n.2990G>C
n.3198G>C
c.2407G>C (p.Glu803Gln)
c.1432G>C (p.Glu478Gln)
c.2146G>C (p.Glu716Gln)
c.3124G>C (p.Glu1042Gln)
n.2942G>C
n.3150G>C
1g.197434852G>TCA344044330CRB1c.2989G>T (p.Glu997Ter)
c.1870G>T (p.Glu624Ter)
c.1132G>T (p.Glu378Ter)
c.2653G>T (p.Glu885Ter)
c.2917G>T (p.Glu973Ter)
c.2129-748G>T (n.2129-748G>T)
n.2990G>T
n.3198G>T
c.2407G>T (p.Glu803Ter)
c.1432G>T (p.Glu478Ter)
c.2146G>T (p.Glu716Ter)
c.3124G>T (p.Glu1042Ter)
n.2942G>T
n.3150G>T
 gnomAD v4
1g.197434853A>CCA344044332CRB1c.2990A>C (p.Glu997Ala)
c.1871A>C (p.Glu624Ala)
c.1133A>C (p.Glu378Ala)
c.2654A>C (p.Glu885Ala)
c.2918A>C (p.Glu973Ala)
c.2129-747A>C (n.2129-747A>C)
n.2991A>C
n.3199A>C
c.2408A>C (p.Glu803Ala)
c.1433A>C (p.Glu478Ala)
c.2147A>C (p.Glu716Ala)
c.3125A>C (p.Glu1042Ala)
n.2943A>C
n.3151A>C
1g.197434853A>GCA344044333CRB1c.2990A>G (p.Glu997Gly)
c.1871A>G (p.Glu624Gly)
c.1133A>G (p.Glu378Gly)
c.2654A>G (p.Glu885Gly)
c.2918A>G (p.Glu973Gly)
c.2129-747A>G (n.2129-747A>G)
n.2991A>G
n.3199A>G
c.2408A>G (p.Glu803Gly)
c.1433A>G (p.Glu478Gly)
c.2147A>G (p.Glu716Gly)
c.3125A>G (p.Glu1042Gly)
n.2943A>G
n.3151A>G
1g.197434853A>TCA344044334CRB1c.2990A>T (p.Glu997Val)
c.1871A>T (p.Glu624Val)
c.1133A>T (p.Glu378Val)
c.2654A>T (p.Glu885Val)
c.2918A>T (p.Glu973Val)
c.2129-747A>T (n.2129-747A>T)
n.2991A>T
n.3199A>T
c.2408A>T (p.Glu803Val)
c.1433A>T (p.Glu478Val)
c.2147A>T (p.Glu716Val)
c.3125A>T (p.Glu1042Val)
n.2943A>T
n.3151A>T
1g.197434854A>CCA344044337CRB1c.2991A>C (p.Glu997Asp)
c.1872A>C (p.Glu624Asp)
c.1134A>C (p.Glu378Asp)
c.2655A>C (p.Glu885Asp)
c.2919A>C (p.Glu973Asp)
c.2129-746A>C (n.2129-746A>C)
n.2992A>C
n.3200A>C
c.2409A>C (p.Glu803Asp)
c.1434A>C (p.Glu478Asp)
c.2148A>C (p.Glu716Asp)
c.3126A>C (p.Glu1042Asp)
n.2944A>C
n.3152A>C
1g.197434854A>GCA422672589CRB1c.2991A>G (p.Glu997=)
c.1872A>G (p.Glu624=)
c.1134A>G (p.Glu378=)
c.2655A>G (p.Glu885=)
c.2919A>G (p.Glu973=)
c.2129-746A>G (n.2129-746A>G)
n.2992A>G
n.3200A>G
c.2409A>G (p.Glu803=)
c.1434A>G (p.Glu478=)
c.2148A>G (p.Glu716=)
c.3126A>G (p.Glu1042=)
n.2944A>G
n.3152A>G
1g.197434854A>TCA344044341CRB1c.2991A>T (p.Glu997Asp)
c.1872A>T (p.Glu624Asp)
c.1134A>T (p.Glu378Asp)
c.2655A>T (p.Glu885Asp)
c.2919A>T (p.Glu973Asp)
c.2129-746A>T (n.2129-746A>T)
n.2992A>T
n.3200A>T
c.2409A>T (p.Glu803Asp)
c.1434A>T (p.Glu478Asp)
c.2148A>T (p.Glu716Asp)
c.3126A>T (p.Glu1042Asp)
n.2944A>T
n.3152A>T
1g.197434855T>ACA344044346CRB1c.2992T>A (p.Phe998Ile)
c.1873T>A (p.Phe625Ile)
c.1135T>A (p.Phe379Ile)
c.2656T>A (p.Phe886Ile)
c.2920T>A (p.Phe974Ile)
c.2129-745T>A (n.2129-745T>A)
n.2993T>A
n.3201T>A
c.2410T>A (p.Phe804Ile)
c.1435T>A (p.Phe479Ile)
c.2149T>A (p.Phe717Ile)
c.3127T>A (p.Phe1043Ile)
n.2945T>A
n.3153T>A
1g.197434855T>CCA344044356CRB1c.2992T>C (p.Phe998Leu)
c.1873T>C (p.Phe625Leu)
c.1135T>C (p.Phe379Leu)
c.2656T>C (p.Phe886Leu)
c.2920T>C (p.Phe974Leu)
c.2129-745T>C (n.2129-745T>C)
n.2993T>C
n.3201T>C
c.2410T>C (p.Phe804Leu)
c.1435T>C (p.Phe479Leu)
c.2149T>C (p.Phe717Leu)
c.3127T>C (p.Phe1043Leu)
n.2945T>C
n.3153T>C
 dbSNP
1g.197434855T>GCA344044353CRB1c.2992T>G (p.Phe998Val)
c.1873T>G (p.Phe625Val)
c.1135T>G (p.Phe379Val)
c.2656T>G (p.Phe886Val)
c.2920T>G (p.Phe974Val)
c.2129-745T>G (n.2129-745T>G)
n.2993T>G
n.3201T>G
c.2410T>G (p.Phe804Val)
c.1435T>G (p.Phe479Val)
c.2149T>G (p.Phe717Val)
c.3127T>G (p.Phe1043Val)
n.2945T>G
n.3153T>G
 dbSNP
1g.197434855T=CA1218068694CRB1c.2992T= (p.Phe998=)
c.1873T= (p.Phe625=)
c.1135T= (p.Phe379=)
c.2656T= (p.Phe886=)
c.2920T= (p.Phe974=)
c.2129-745T= (n.2129-745T=)
n.2993T=
n.3201T=
c.2410T= (p.Phe804=)
c.1435T= (p.Phe479=)
c.2149T= (p.Phe717=)
c.3127T= (p.Phe1043=)
n.2945T=
n.3153T=
1g.197434856T>ACA344044358CRB1c.2993T>A (p.Phe998Tyr)
c.1874T>A (p.Phe625Tyr)
c.1136T>A (p.Phe379Tyr)
c.2657T>A (p.Phe886Tyr)
c.2921T>A (p.Phe974Tyr)
c.2129-744T>A (n.2129-744T>A)
n.2994T>A
n.3202T>A
c.2411T>A (p.Phe804Tyr)
c.1436T>A (p.Phe479Tyr)
c.2150T>A (p.Phe717Tyr)
c.3128T>A (p.Phe1043Tyr)
n.2946T>A
n.3154T>A
1g.197434856T>CCA344044359CRB1c.2993T>C (p.Phe998Ser)
c.1874T>C (p.Phe625Ser)
c.1136T>C (p.Phe379Ser)
c.2657T>C (p.Phe886Ser)
c.2921T>C (p.Phe974Ser)
c.2129-744T>C (n.2129-744T>C)
n.2994T>C
n.3202T>C
c.2411T>C (p.Phe804Ser)
c.1436T>C (p.Phe479Ser)
c.2150T>C (p.Phe717Ser)
c.3128T>C (p.Phe1043Ser)
n.2946T>C
n.3154T>C
1g.197434856T>GCA344044360CRB1c.2993T>G (p.Phe998Cys)
c.1874T>G (p.Phe625Cys)
c.1136T>G (p.Phe379Cys)
c.2657T>G (p.Phe886Cys)
c.2921T>G (p.Phe974Cys)
c.2129-744T>G (n.2129-744T>G)
n.2994T>G
n.3202T>G
c.2411T>G (p.Phe804Cys)
c.1436T>G (p.Phe479Cys)
c.2150T>G (p.Phe717Cys)
c.3128T>G (p.Phe1043Cys)
n.2946T>G
n.3154T>G
 dbSNP gnomAD v2
1g.197434856T=CA1218068695CRB1c.2993T= (p.Phe998=)
c.1874T= (p.Phe625=)
c.1136T= (p.Phe379=)
c.2657T= (p.Phe886=)
c.2921T= (p.Phe974=)
c.2129-744T= (n.2129-744T=)
n.2994T=
n.3202T=
c.2411T= (p.Phe804=)
c.1436T= (p.Phe479=)
c.2150T= (p.Phe717=)
c.3128T= (p.Phe1043=)
n.2946T=
n.3154T=
1g.197434857T>ACA344044364CRB1c.2994T>A (p.Phe998Leu)
c.1875T>A (p.Phe625Leu)
c.1137T>A (p.Phe379Leu)
c.2658T>A (p.Phe886Leu)
c.2922T>A (p.Phe974Leu)
c.2129-743T>A (n.2129-743T>A)
n.2995T>A
n.3203T>A
c.2412T>A (p.Phe804Leu)
c.1437T>A (p.Phe479Leu)
c.2151T>A (p.Phe717Leu)
c.3129T>A (p.Phe1043Leu)
n.2947T>A
n.3155T>A
1g.197434857T>CCA422672592CRB1c.2994T>C (p.Phe998=)
c.1875T>C (p.Phe625=)
c.1137T>C (p.Phe379=)
c.2658T>C (p.Phe886=)
c.2922T>C (p.Phe974=)
c.2129-743T>C (n.2129-743T>C)
n.2995T>C
n.3203T>C
c.2412T>C (p.Phe804=)
c.1437T>C (p.Phe479=)
c.2151T>C (p.Phe717=)
c.3129T>C (p.Phe1043=)
n.2947T>C
n.3155T>C
1g.197434857T>GCA344044366CRB1c.2994T>G (p.Phe998Leu)
c.1875T>G (p.Phe625Leu)
c.1137T>G (p.Phe379Leu)
c.2658T>G (p.Phe886Leu)
c.2922T>G (p.Phe974Leu)
c.2129-743T>G (n.2129-743T>G)
n.2995T>G
n.3203T>G
c.2412T>G (p.Phe804Leu)
c.1437T>G (p.Phe479Leu)
c.2151T>G (p.Phe717Leu)
c.3129T>G (p.Phe1043Leu)
n.2947T>G
n.3155T>G
1g.197434858C>ACA344044369CRB1c.2995C>A (p.Leu999Ile)
c.1876C>A (p.Leu626Ile)
c.1138C>A (p.Leu380Ile)
c.2659C>A (p.Leu887Ile)
c.2923C>A (p.Leu975Ile)
c.2129-742C>A (n.2129-742C>A)
n.2996C>A
n.3204C>A
c.2413C>A (p.Leu805Ile)
c.1438C>A (p.Leu480Ile)
c.2152C>A (p.Leu718Ile)
c.3130C>A (p.Leu1044Ile)
n.2948C>A
n.3156C>A
1g.197434858C=CA1218068696CRB1c.2995C= (p.Leu999=)
c.1876C= (p.Leu626=)
c.1138C= (p.Leu380=)
c.2659C= (p.Leu887=)
c.2923C= (p.Leu975=)
c.2129-742C= (n.2129-742C=)
n.2996C=
n.3204C=
c.2413C= (p.Leu805=)
c.1438C= (p.Leu480=)
c.2152C= (p.Leu718=)
c.3130C= (p.Leu1044=)
n.2948C=
n.3156C=
1g.197434858C>GCA344044371CRB1c.2995C>G (p.Leu999Val)
c.1876C>G (p.Leu626Val)
c.1138C>G (p.Leu380Val)
c.2659C>G (p.Leu887Val)
c.2923C>G (p.Leu975Val)
c.2129-742C>G (n.2129-742C>G)
n.2996C>G
n.3204C>G
c.2413C>G (p.Leu805Val)
c.1438C>G (p.Leu480Val)
c.2152C>G (p.Leu718Val)
c.3130C>G (p.Leu1044Val)
n.2948C>G
n.3156C>G
1g.197434858C>TCA35906752CRB1c.2995C>T (p.Leu999Phe)
c.1876C>T (p.Leu626Phe)
c.1138C>T (p.Leu380Phe)
c.2659C>T (p.Leu887Phe)
c.2923C>T (p.Leu975Phe)
c.2129-742C>T (n.2129-742C>T)
n.2996C>T
n.3204C>T
c.2413C>T (p.Leu805Phe)
c.1438C>T (p.Leu480Phe)
c.2152C>T (p.Leu718Phe)
c.3130C>T (p.Leu1044Phe)
n.2948C>T
n.3156C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197434859T>ACA344044378CRB1c.2996T>A (p.Leu999His)
c.1877T>A (p.Leu626His)
c.1139T>A (p.Leu380His)
c.2660T>A (p.Leu887His)
c.2924T>A (p.Leu975His)
c.2129-741T>A (n.2129-741T>A)
n.2997T>A
n.3205T>A
c.2414T>A (p.Leu805His)
c.1439T>A (p.Leu480His)
c.2153T>A (p.Leu718His)
c.3131T>A (p.Leu1044His)
n.2949T>A
n.3157T>A
1g.197434859T>CCA344044380CRB1c.2996T>C (p.Leu999Pro)
c.1877T>C (p.Leu626Pro)
c.1139T>C (p.Leu380Pro)
c.2660T>C (p.Leu887Pro)
c.2924T>C (p.Leu975Pro)
c.2129-741T>C (n.2129-741T>C)
n.2997T>C
n.3205T>C
c.2414T>C (p.Leu805Pro)
c.1439T>C (p.Leu480Pro)
c.2153T>C (p.Leu718Pro)
c.3131T>C (p.Leu1044Pro)
n.2949T>C
n.3157T>C
1g.197434859T>GCA1312259CRB1c.2996T>G (p.Leu999Arg)
c.1877T>G (p.Leu626Arg)
c.1139T>G (p.Leu380Arg)
c.2660T>G (p.Leu887Arg)
c.2924T>G (p.Leu975Arg)
c.2129-741T>G (n.2129-741T>G)
n.2997T>G
n.3205T>G
c.2414T>G (p.Leu805Arg)
c.1439T>G (p.Leu480Arg)
c.2153T>G (p.Leu718Arg)
c.3131T>G (p.Leu1044Arg)
n.2949T>G
n.3157T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197434859T=CA1218068697CRB1c.2996T= (p.Leu999=)
c.1877T= (p.Leu626=)
c.1139T= (p.Leu380=)
c.2660T= (p.Leu887=)
c.2924T= (p.Leu975=)
c.2129-741T= (n.2129-741T=)
n.2997T=
n.3205T=
c.2414T= (p.Leu805=)
c.1439T= (p.Leu480=)
c.2153T= (p.Leu718=)
c.3131T= (p.Leu1044=)
n.2949T=
n.3157T=
1g.197434860T>ACA422672595CRB1c.2997T>A (p.Leu999=)
c.1878T>A (p.Leu626=)
c.1140T>A (p.Leu380=)
c.2661T>A (p.Leu887=)
c.2925T>A (p.Leu975=)
c.2129-740T>A (n.2129-740T>A)
n.2998T>A
n.3206T>A
c.2415T>A (p.Leu805=)
c.1440T>A (p.Leu480=)
c.2154T>A (p.Leu718=)
c.3132T>A (p.Leu1044=)
n.2950T>A
n.3158T>A
1g.197434860T>CCA422672596CRB1c.2997T>C (p.Leu999=)
c.1878T>C (p.Leu626=)
c.1140T>C (p.Leu380=)
c.2661T>C (p.Leu887=)
c.2925T>C (p.Leu975=)
c.2129-740T>C (n.2129-740T>C)
n.2998T>C
n.3206T>C
c.2415T>C (p.Leu805=)
c.1440T>C (p.Leu480=)
c.2154T>C (p.Leu718=)
c.3132T>C (p.Leu1044=)
n.2950T>C
n.3158T>C
1g.197434860T>GCA422672597CRB1c.2997T>G (p.Leu999=)
c.1878T>G (p.Leu626=)
c.1140T>G (p.Leu380=)
c.2661T>G (p.Leu887=)
c.2925T>G (p.Leu975=)
c.2129-740T>G (n.2129-740T>G)
n.2998T>G
n.3206T>G
c.2415T>G (p.Leu805=)
c.1440T>G (p.Leu480=)
c.2154T>G (p.Leu718=)
c.3132T>G (p.Leu1044=)
n.2950T>G
n.3158T>G
1g.197434861A>CCA344044394CRB1c.2998A>C (p.Asn1000His)
c.1879A>C (p.Asn627His)
c.1141A>C (p.Asn381His)
c.2662A>C (p.Asn888His)
c.2926A>C (p.Asn976His)
c.2129-739A>C (n.2129-739A>C)
n.2999A>C
n.3207A>C
c.2416A>C (p.Asn806His)
c.1441A>C (p.Asn481His)
c.2155A>C (p.Asn719His)
c.3133A>C (p.Asn1045His)
n.2951A>C
n.3159A>C
1g.197434861A>GCA344044393CRB1c.2998A>G (p.Asn1000Asp)
c.1879A>G (p.Asn627Asp)
c.1141A>G (p.Asn381Asp)
c.2662A>G (p.Asn888Asp)
c.2926A>G (p.Asn976Asp)
c.2129-739A>G (n.2129-739A>G)
n.2999A>G
n.3207A>G
c.2416A>G (p.Asn806Asp)
c.1441A>G (p.Asn481Asp)
c.2155A>G (p.Asn719Asp)
c.3133A>G (p.Asn1045Asp)
n.2951A>G
n.3159A>G
1g.197434861A>TCA344044391CRB1c.2998A>T (p.Asn1000Tyr)
c.1879A>T (p.Asn627Tyr)
c.1141A>T (p.Asn381Tyr)
c.2662A>T (p.Asn888Tyr)
c.2926A>T (p.Asn976Tyr)
c.2129-739A>T (n.2129-739A>T)
n.2999A>T
n.3207A>T
c.2416A>T (p.Asn806Tyr)
c.1441A>T (p.Asn481Tyr)
c.2155A>T (p.Asn719Tyr)
c.3133A>T (p.Asn1045Tyr)
n.2951A>T
n.3159A>T
1g.197434862A=CA1218068698CRB1c.2999A= (p.Asn1000=)
c.1880A= (p.Asn627=)
c.1142A= (p.Asn381=)
c.2663A= (p.Asn888=)
c.2927A= (p.Asn976=)
c.2129-738A= (n.2129-738A=)
n.3000A=
n.3208A=
c.2417A= (p.Asn806=)
c.1442A= (p.Asn481=)
c.2156A= (p.Asn719=)
c.3134A= (p.Asn1045=)
n.2952A=
n.3160A=
1g.197434862A>CCA344044395CRB1c.2999A>C (p.Asn1000Thr)
c.1880A>C (p.Asn627Thr)
c.1142A>C (p.Asn381Thr)
c.2663A>C (p.Asn888Thr)
c.2927A>C (p.Asn976Thr)
c.2129-738A>C (n.2129-738A>C)
n.3000A>C
n.3208A>C
c.2417A>C (p.Asn806Thr)
c.1442A>C (p.Asn481Thr)
c.2156A>C (p.Asn719Thr)
c.3134A>C (p.Asn1045Thr)
n.2952A>C
n.3160A>C
 dbSNP
1g.197434862A>GCA344044399CRB1c.2999A>G (p.Asn1000Ser)
c.1880A>G (p.Asn627Ser)
c.1142A>G (p.Asn381Ser)
c.2663A>G (p.Asn888Ser)
c.2927A>G (p.Asn976Ser)
c.2129-738A>G (n.2129-738A>G)
n.3000A>G
n.3208A>G
c.2417A>G (p.Asn806Ser)
c.1442A>G (p.Asn481Ser)
c.2156A>G (p.Asn719Ser)
c.3134A>G (p.Asn1045Ser)
n.2952A>G
n.3160A>G
1g.197434862A>TCA344044401CRB1c.2999A>T (p.Asn1000Ile)
c.1880A>T (p.Asn627Ile)
c.1142A>T (p.Asn381Ile)
c.2663A>T (p.Asn888Ile)
c.2927A>T (p.Asn976Ile)
c.2129-738A>T (n.2129-738A>T)
n.3000A>T
n.3208A>T
c.2417A>T (p.Asn806Ile)
c.1442A>T (p.Asn481Ile)
c.2156A>T (p.Asn719Ile)
c.3134A>T (p.Asn1045Ile)
n.2952A>T
n.3160A>T
 gnomAD v4
1g.197434863T>ACA344044403CRB1c.3000T>A (p.Asn1000Lys)
c.1881T>A (p.Asn627Lys)
c.1143T>A (p.Asn381Lys)
c.2664T>A (p.Asn888Lys)
c.2928T>A (p.Asn976Lys)
c.2129-737T>A (n.2129-737T>A)
n.3001T>A
n.3209T>A
c.2418T>A (p.Asn806Lys)
c.1443T>A (p.Asn481Lys)
c.2157T>A (p.Asn719Lys)
c.3135T>A (p.Asn1045Lys)
n.2953T>A
n.3161T>A
1g.197434863T>CCA422672600CRB1c.3000T>C (p.Asn1000=)
c.1881T>C (p.Asn627=)
c.1143T>C (p.Asn381=)
c.2664T>C (p.Asn888=)
c.2928T>C (p.Asn976=)
c.2129-737T>C (n.2129-737T>C)
n.3001T>C
n.3209T>C
c.2418T>C (p.Asn806=)
c.1443T>C (p.Asn481=)
c.2157T>C (p.Asn719=)
c.3135T>C (p.Asn1045=)
n.2953T>C
n.3161T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197434863T>GCA344044404CRB1c.3000T>G (p.Asn1000Lys)
c.1881T>G (p.Asn627Lys)
c.1143T>G (p.Asn381Lys)
c.2664T>G (p.Asn888Lys)
c.2928T>G (p.Asn976Lys)
c.2129-737T>G (n.2129-737T>G)
n.3001T>G
n.3209T>G
c.2418T>G (p.Asn806Lys)
c.1443T>G (p.Asn481Lys)
c.2157T>G (p.Asn719Lys)
c.3135T>G (p.Asn1045Lys)
n.2953T>G
n.3161T>G
1g.197434863T=CA1218068699CRB1c.3000T= (p.Asn1000=)
c.1881T= (p.Asn627=)
c.1143T= (p.Asn381=)
c.2664T= (p.Asn888=)
c.2928T= (p.Asn976=)
c.2129-737T= (n.2129-737T=)
n.3001T=
n.3209T=
c.2418T= (p.Asn806=)
c.1443T= (p.Asn481=)
c.2157T= (p.Asn719=)
c.3135T= (p.Asn1045=)
n.2953T=
n.3161T=
1g.197434864A=CA1218068700CRB1c.3001A= (p.Ile1001=)
c.1882A= (p.Ile628=)
c.1144A= (p.Ile382=)
c.2665A= (p.Ile889=)
c.2929A= (p.Ile977=)
c.2129-736A= (n.2129-736A=)
n.3002A=
n.3210A=
c.2419A= (p.Ile807=)
c.1444A= (p.Ile482=)
c.2158A= (p.Ile720=)
c.3136A= (p.Ile1046=)
n.2954A=
n.3162A=
1g.197434864A>CCA344044405CRB1c.3001A>C (p.Ile1001Leu)
c.1882A>C (p.Ile628Leu)
c.1144A>C (p.Ile382Leu)
c.2665A>C (p.Ile889Leu)
c.2929A>C (p.Ile977Leu)
c.2129-736A>C (n.2129-736A>C)
n.3002A>C
n.3210A>C
c.2419A>C (p.Ile807Leu)
c.1444A>C (p.Ile482Leu)
c.2158A>C (p.Ile720Leu)
c.3136A>C (p.Ile1046Leu)
n.2954A>C
n.3162A>C
1g.197434864A>GCA344044407CRB1c.3001A>G (p.Ile1001Val)
c.1882A>G (p.Ile628Val)
c.1144A>G (p.Ile382Val)
c.2665A>G (p.Ile889Val)
c.2929A>G (p.Ile977Val)
c.2129-736A>G (n.2129-736A>G)
n.3002A>G
n.3210A>G
c.2419A>G (p.Ile807Val)
c.1444A>G (p.Ile482Val)
c.2158A>G (p.Ile720Val)
c.3136A>G (p.Ile1046Val)
n.2954A>G
n.3162A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197434864A>TCA344044411CRB1c.3001A>T (p.Ile1001Phe)
c.1882A>T (p.Ile628Phe)
c.1144A>T (p.Ile382Phe)
c.2665A>T (p.Ile889Phe)
c.2929A>T (p.Ile977Phe)
c.2129-736A>T (n.2129-736A>T)
n.3002A>T
n.3210A>T
c.2419A>T (p.Ile807Phe)
c.1444A>T (p.Ile482Phe)
c.2158A>T (p.Ile720Phe)
c.3136A>T (p.Ile1046Phe)
n.2954A>T
n.3162A>T
1g.197434865T>ACA344044413CRB1c.3002T>A (p.Ile1001Asn)
c.1883T>A (p.Ile628Asn)
c.1145T>A (p.Ile382Asn)
c.2666T>A (p.Ile889Asn)
c.2930T>A (p.Ile977Asn)
c.2129-735T>A (n.2129-735T>A)
n.3003T>A
n.3211T>A
c.2420T>A (p.Ile807Asn)
c.1445T>A (p.Ile482Asn)
c.2159T>A (p.Ile720Asn)
c.3137T>A (p.Ile1046Asn)
n.2955T>A
n.3163T>A
1g.197434865T>CCA344044414CRB1c.3002T>C (p.Ile1001Thr)
c.1883T>C (p.Ile628Thr)
c.1145T>C (p.Ile382Thr)
c.2666T>C (p.Ile889Thr)
c.2930T>C (p.Ile977Thr)
c.2129-735T>C (n.2129-735T>C)
n.3003T>C
n.3211T>C
c.2420T>C (p.Ile807Thr)
c.1445T>C (p.Ile482Thr)
c.2159T>C (p.Ile720Thr)
c.3137T>C (p.Ile1046Thr)
n.2955T>C
n.3163T>C
1g.197434865T>GCA344044415CRB1c.3002T>G (p.Ile1001Ser)
c.1883T>G (p.Ile628Ser)
c.1145T>G (p.Ile382Ser)
c.2666T>G (p.Ile889Ser)
c.2930T>G (p.Ile977Ser)
c.2129-735T>G (n.2129-735T>G)
n.3003T>G
n.3211T>G
c.2420T>G (p.Ile807Ser)
c.1445T>G (p.Ile482Ser)
c.2159T>G (p.Ile720Ser)
c.3137T>G (p.Ile1046Ser)
n.2955T>G
n.3163T>G
1g.197434866T>ACA422672602CRB1c.3003T>A (p.Ile1001=)
c.1884T>A (p.Ile628=)
c.1146T>A (p.Ile382=)
c.2667T>A (p.Ile889=)
c.2931T>A (p.Ile977=)
c.2129-734T>A (n.2129-734T>A)
n.3004T>A
n.3212T>A
c.2421T>A (p.Ile807=)
c.1446T>A (p.Ile482=)
c.2160T>A (p.Ile720=)
c.3138T>A (p.Ile1046=)
n.2956T>A
n.3164T>A
 dbSNP
1g.197434866T>CCA422672603CRB1c.3003T>C (p.Ile1001=)
c.1884T>C (p.Ile628=)
c.1146T>C (p.Ile382=)
c.2667T>C (p.Ile889=)
c.2931T>C (p.Ile977=)
c.2129-734T>C (n.2129-734T>C)
n.3004T>C
n.3212T>C
c.2421T>C (p.Ile807=)
c.1446T>C (p.Ile482=)
c.2160T>C (p.Ile720=)
c.3138T>C (p.Ile1046=)
n.2956T>C
n.3164T>C
1g.197434866T>GCA344044417CRB1c.3003T>G (p.Ile1001Met)
c.1884T>G (p.Ile628Met)
c.1146T>G (p.Ile382Met)
c.2667T>G (p.Ile889Met)
c.2931T>G (p.Ile977Met)
c.2129-734T>G (n.2129-734T>G)
n.3004T>G
n.3212T>G
c.2421T>G (p.Ile807Met)
c.1446T>G (p.Ile482Met)
c.2160T>G (p.Ile720Met)
c.3138T>G (p.Ile1046Met)
n.2956T>G
n.3164T>G
1g.197434866T=CA1218068701CRB1c.3003T= (p.Ile1001=)
c.1884T= (p.Ile628=)
c.1146T= (p.Ile382=)
c.2667T= (p.Ile889=)
c.2931T= (p.Ile977=)
c.2129-734T= (n.2129-734T=)
n.3004T=
n.3212T=
c.2421T= (p.Ile807=)
c.1446T= (p.Ile482=)
c.2160T= (p.Ile720=)
c.3138T= (p.Ile1046=)
n.2956T=
n.3164T=
1g.197434867A>CCA344044444CRB1c.3004A>C (p.Ser1002Arg)
c.1885A>C (p.Ser629Arg)
c.1147A>C (p.Ser383Arg)
c.2668A>C (p.Ser890Arg)
c.2932A>C (p.Ser978Arg)
c.2129-733A>C (n.2129-733A>C)
n.3005A>C
n.3213A>C
c.2422A>C (p.Ser808Arg)
c.1447A>C (p.Ser483Arg)
c.2161A>C (p.Ser721Arg)
c.3139A>C (p.Ser1047Arg)
n.2957A>C
n.3165A>C
1g.197434867A>GCA344044441CRB1c.3004A>G (p.Ser1002Gly)
c.1885A>G (p.Ser629Gly)
c.1147A>G (p.Ser383Gly)
c.2668A>G (p.Ser890Gly)
c.2932A>G (p.Ser978Gly)
c.2129-733A>G (n.2129-733A>G)
n.3005A>G
n.3213A>G
c.2422A>G (p.Ser808Gly)
c.1447A>G (p.Ser483Gly)
c.2161A>G (p.Ser721Gly)
c.3139A>G (p.Ser1047Gly)
n.2957A>G
n.3165A>G
1g.197434867A>TCA344044431CRB1c.3004A>T (p.Ser1002Cys)
c.1885A>T (p.Ser629Cys)
c.1147A>T (p.Ser383Cys)
c.2668A>T (p.Ser890Cys)
c.2932A>T (p.Ser978Cys)
c.2129-733A>T (n.2129-733A>T)
n.3005A>T
n.3213A>T
c.2422A>T (p.Ser808Cys)
c.1447A>T (p.Ser483Cys)
c.2161A>T (p.Ser721Cys)
c.3139A>T (p.Ser1047Cys)
n.2957A>T
n.3165A>T
1g.197434868G>ACA344044448CRB1c.3005G>A (p.Ser1002Asn)
c.1886G>A (p.Ser629Asn)
c.1148G>A (p.Ser383Asn)
c.2669G>A (p.Ser890Asn)
c.2933G>A (p.Ser978Asn)
c.2129-732G>A (n.2129-732G>A)
n.3006G>A
n.3214G>A
c.2423G>A (p.Ser808Asn)
c.1448G>A (p.Ser483Asn)
c.2162G>A (p.Ser721Asn)
c.3140G>A (p.Ser1047Asn)
n.2958G>A
n.3166G>A
 dbSNP
1g.197434868G>CCA344044453CRB1c.3005G>C (p.Ser1002Thr)
c.1886G>C (p.Ser629Thr)
c.1148G>C (p.Ser383Thr)
c.2669G>C (p.Ser890Thr)
c.2933G>C (p.Ser978Thr)
c.2129-732G>C (n.2129-732G>C)
n.3006G>C
n.3214G>C
c.2423G>C (p.Ser808Thr)
c.1448G>C (p.Ser483Thr)
c.2162G>C (p.Ser721Thr)
c.3140G>C (p.Ser1047Thr)
n.2958G>C
n.3166G>C
1g.197434868G=CA1218068702CRB1c.3005G= (p.Ser1002=)
c.1886G= (p.Ser629=)
c.1148G= (p.Ser383=)
c.2669G= (p.Ser890=)
c.2933G= (p.Ser978=)
c.2129-732G= (n.2129-732G=)
n.3006G=
n.3214G=
c.2423G= (p.Ser808=)
c.1448G= (p.Ser483=)
c.2162G= (p.Ser721=)
c.3140G= (p.Ser1047=)
n.2958G=
n.3166G=
1g.197434868G>TCA344044449CRB1c.3005G>T (p.Ser1002Ile)
c.1886G>T (p.Ser629Ile)
c.1148G>T (p.Ser383Ile)
c.2669G>T (p.Ser890Ile)
c.2933G>T (p.Ser978Ile)
c.2129-732G>T (n.2129-732G>T)
n.3006G>T
n.3214G>T
c.2423G>T (p.Ser808Ile)
c.1448G>T (p.Ser483Ile)
c.2162G>T (p.Ser721Ile)
c.3140G>T (p.Ser1047Ile)
n.2958G>T
n.3166G>T
 gnomAD v4
1g.197434869C>ACA344044455CRB1c.3006C>A (p.Ser1002Arg)
c.1887C>A (p.Ser629Arg)
c.1149C>A (p.Ser383Arg)
c.2670C>A (p.Ser890Arg)
c.2934C>A (p.Ser978Arg)
c.2129-731C>A (n.2129-731C>A)
n.3007C>A
n.3215C>A
c.2424C>A (p.Ser808Arg)
c.1449C>A (p.Ser483Arg)
c.2163C>A (p.Ser721Arg)
c.3141C>A (p.Ser1047Arg)
n.2959C>A
n.3167C>A
1g.197434869C=CA1218068703CRB1c.3006C= (p.Ser1002=)
c.1887C= (p.Ser629=)
c.1149C= (p.Ser383=)
c.2670C= (p.Ser890=)
c.2934C= (p.Ser978=)
c.2129-731C= (n.2129-731C=)
n.3007C=
n.3215C=
c.2424C= (p.Ser808=)
c.1449C= (p.Ser483=)
c.2163C= (p.Ser721=)
c.3141C= (p.Ser1047=)
n.2959C=
n.3167C=
1g.197434869C>GCA344044457CRB1c.3006C>G (p.Ser1002Arg)
c.1887C>G (p.Ser629Arg)
c.1149C>G (p.Ser383Arg)
c.2670C>G (p.Ser890Arg)
c.2934C>G (p.Ser978Arg)
c.2129-731C>G (n.2129-731C>G)
n.3007C>G
n.3215C>G
c.2424C>G (p.Ser808Arg)
c.1449C>G (p.Ser483Arg)
c.2163C>G (p.Ser721Arg)
c.3141C>G (p.Ser1047Arg)
n.2959C>G
n.3167C>G
1g.197434869C>TCA422672607CRB1c.3006C>T (p.Ser1002=)
c.1887C>T (p.Ser629=)
c.1149C>T (p.Ser383=)
c.2670C>T (p.Ser890=)
c.2934C>T (p.Ser978=)
c.2129-731C>T (n.2129-731C>T)
n.3007C>T
n.3215C>T
c.2424C>T (p.Ser808=)
c.1449C>T (p.Ser483=)
c.2163C>T (p.Ser721=)
c.3141C>T (p.Ser1047=)
n.2959C>T
n.3167C>T
 dbSNP

Number of alleles fetched