Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.197435168T>ACA344047033CRB1c.3305T>A (p.Ile1102Asn)
c.2186T>A (p.Ile729Asn)
c.1448T>A (p.Ile483Asn)
c.2969T>A (p.Ile990Asn)
c.3233T>A (p.Ile1078Asn)
c.2129-432T>A (n.2129-432T>A)
n.3306T>A
n.3514T>A
c.2723T>A (p.Ile908Asn)
c.1748T>A (p.Ile583Asn)
c.2462T>A (p.Ile821Asn)
c.3440T>A (p.Ile1147Asn)
n.3258T>A
n.3466T>A
1g.197435168T>CCA344047034CRB1c.3305T>C (p.Ile1102Thr)
c.2186T>C (p.Ile729Thr)
c.1448T>C (p.Ile483Thr)
c.2969T>C (p.Ile990Thr)
c.3233T>C (p.Ile1078Thr)
c.2129-432T>C (n.2129-432T>C)
n.3306T>C
n.3514T>C
c.2723T>C (p.Ile908Thr)
c.1748T>C (p.Ile583Thr)
c.2462T>C (p.Ile821Thr)
c.3440T>C (p.Ile1147Thr)
n.3258T>C
n.3466T>C
 dbSNP gnomAD v2 gnomAD v4
1g.197435168T>GCA344047035CRB1c.3305T>G (p.Ile1102Ser)
c.2186T>G (p.Ile729Ser)
c.1448T>G (p.Ile483Ser)
c.2969T>G (p.Ile990Ser)
c.3233T>G (p.Ile1078Ser)
c.2129-432T>G (n.2129-432T>G)
n.3306T>G
n.3514T>G
c.2723T>G (p.Ile908Ser)
c.1748T>G (p.Ile583Ser)
c.2462T>G (p.Ile821Ser)
c.3440T>G (p.Ile1147Ser)
n.3258T>G
n.3466T>G
1g.197435168T=CA1218068822CRB1c.3305T= (p.Ile1102=)
c.2186T= (p.Ile729=)
c.1448T= (p.Ile483=)
c.2969T= (p.Ile990=)
c.3233T= (p.Ile1078=)
c.2129-432T= (n.2129-432T=)
n.3306T=
n.3514T=
c.2723T= (p.Ile908=)
c.1748T= (p.Ile583=)
c.2462T= (p.Ile821=)
c.3440T= (p.Ile1147=)
n.3258T=
n.3466T=
1g.197435169C>ACA422809132CRB1c.3306C>A (p.Ile1102=)
c.2187C>A (p.Ile729=)
c.1449C>A (p.Ile483=)
c.2970C>A (p.Ile990=)
c.3234C>A (p.Ile1078=)
c.2129-431C>A (n.2129-431C>A)
n.3307C>A
n.3515C>A
c.2724C>A (p.Ile908=)
c.1749C>A (p.Ile583=)
c.2463C>A (p.Ile821=)
c.3441C>A (p.Ile1147=)
n.3259C>A
n.3467C>A
 ClinVar dbSNP gnomAD v4
1g.197435169C=CA1144017568CRB1c.3306C= (p.Ile1102=)
c.2187C= (p.Ile729=)
c.1449C= (p.Ile483=)
c.2970C= (p.Ile990=)
c.3234C= (p.Ile1078=)
c.2129-431C= (n.2129-431C=)
n.3307C=
n.3515C=
c.2724C= (p.Ile908=)
c.1749C= (p.Ile583=)
c.2463C= (p.Ile821=)
c.3441C= (p.Ile1147=)
n.3259C=
n.3467C=
1g.197435169C>GCA344047036CRB1c.3306C>G (p.Ile1102Met)
c.2187C>G (p.Ile729Met)
c.1449C>G (p.Ile483Met)
c.2970C>G (p.Ile990Met)
c.3234C>G (p.Ile1078Met)
c.2129-431C>G (n.2129-431C>G)
n.3307C>G
n.3515C>G
c.2724C>G (p.Ile908Met)
c.1749C>G (p.Ile583Met)
c.2463C>G (p.Ile821Met)
c.3441C>G (p.Ile1147Met)
n.3259C>G
n.3467C>G
1g.197435169C>TCA1312314CRB1c.3306C>T (p.Ile1102=)
c.2187C>T (p.Ile729=)
c.1449C>T (p.Ile483=)
c.2970C>T (p.Ile990=)
c.3234C>T (p.Ile1078=)
c.2129-431C>T (n.2129-431C>T)
n.3307C>T
n.3515C>T
c.2724C>T (p.Ile908=)
c.1749C>T (p.Ile583=)
c.2463C>T (p.Ile821=)
c.3441C>T (p.Ile1147=)
n.3259C>T
n.3467C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197435170G>ACA117711CRB1c.3307G>A (p.Gly1103Arg)
c.2188G>A (p.Gly730Arg)
c.1450G>A (p.Gly484Arg)
c.2971G>A (p.Gly991Arg)
c.3235G>A (p.Gly1079Arg)
c.2129-430G>A (n.2129-430G>A)
n.3308G>A
n.3516G>A
c.2725G>A (p.Gly909Arg)
c.1750G>A (p.Gly584Arg)
c.2464G>A (p.Gly822Arg)
c.3442G>A (p.Gly1148Arg)
n.3260G>A
n.3468G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197435170G>CCA344047037CRB1c.3307G>C (p.Gly1103Arg)
c.2188G>C (p.Gly730Arg)
c.1450G>C (p.Gly484Arg)
c.2971G>C (p.Gly991Arg)
c.3235G>C (p.Gly1079Arg)
c.2129-430G>C (n.2129-430G>C)
n.3308G>C
n.3516G>C
c.2725G>C (p.Gly909Arg)
c.1750G>C (p.Gly584Arg)
c.2464G>C (p.Gly822Arg)
c.3442G>C (p.Gly1148Arg)
n.3260G>C
n.3468G>C
 COSMIC
1g.197435170G=CA1140762964CRB1c.3307G= (p.Gly1103=)
c.2188G= (p.Gly730=)
c.1450G= (p.Gly484=)
c.2971G= (p.Gly991=)
c.3235G= (p.Gly1079=)
c.2129-430G= (n.2129-430G=)
n.3308G=
n.3516G=
c.2725G= (p.Gly909=)
c.1750G= (p.Gly584=)
c.2464G= (p.Gly822=)
c.3442G= (p.Gly1148=)
n.3260G=
n.3468G=
1g.197435170G>TCA344047038CRB1c.3307G>T (p.Gly1103Ter)
c.2188G>T (p.Gly730Ter)
c.1450G>T (p.Gly484Ter)
c.2971G>T (p.Gly991Ter)
c.3235G>T (p.Gly1079Ter)
c.2129-430G>T (n.2129-430G>T)
n.3308G>T
n.3516G>T
c.2725G>T (p.Gly909Ter)
c.1750G>T (p.Gly584Ter)
c.2464G>T (p.Gly822Ter)
c.3442G>T (p.Gly1148Ter)
n.3260G>T
n.3468G>T
1g.197435171G>ACA344047039CRB1c.3308G>A (p.Gly1103Glu)
c.2189G>A (p.Gly730Glu)
c.1451G>A (p.Gly484Glu)
c.2972G>A (p.Gly991Glu)
c.3236G>A (p.Gly1079Glu)
c.2129-429G>A (n.2129-429G>A)
n.3309G>A
n.3517G>A
c.2726G>A (p.Gly909Glu)
c.1751G>A (p.Gly584Glu)
c.2465G>A (p.Gly822Glu)
c.3443G>A (p.Gly1148Glu)
n.3261G>A
n.3469G>A
1g.197435171G>CCA344047040CRB1c.3308G>C (p.Gly1103Ala)
c.2189G>C (p.Gly730Ala)
c.1451G>C (p.Gly484Ala)
c.2972G>C (p.Gly991Ala)
c.3236G>C (p.Gly1079Ala)
c.2129-429G>C (n.2129-429G>C)
n.3309G>C
n.3517G>C
c.2726G>C (p.Gly909Ala)
c.1751G>C (p.Gly584Ala)
c.2465G>C (p.Gly822Ala)
c.3443G>C (p.Gly1148Ala)
n.3261G>C
n.3469G>C
1g.197435171G=CA1218068823CRB1c.3308G= (p.Gly1103=)
c.2189G= (p.Gly730=)
c.1451G= (p.Gly484=)
c.2972G= (p.Gly991=)
c.3236G= (p.Gly1079=)
c.2129-429G= (n.2129-429G=)
n.3309G=
n.3517G=
c.2726G= (p.Gly909=)
c.1751G= (p.Gly584=)
c.2465G= (p.Gly822=)
c.3443G= (p.Gly1148=)
n.3261G=
n.3469G=
1g.197435171G>TCA344047041CRB1c.3308G>T (p.Gly1103Val)
c.2189G>T (p.Gly730Val)
c.1451G>T (p.Gly484Val)
c.2972G>T (p.Gly991Val)
c.3236G>T (p.Gly1079Val)
c.2129-429G>T (n.2129-429G>T)
n.3309G>T
n.3517G>T
c.2726G>T (p.Gly909Val)
c.1751G>T (p.Gly584Val)
c.2465G>T (p.Gly822Val)
c.3443G>T (p.Gly1148Val)
n.3261G>T
n.3469G>T
 ClinVar dbSNP
1g.197435172A>CCA422809135CRB1c.3309A>C (p.Gly1103=)
c.2190A>C (p.Gly730=)
c.1452A>C (p.Gly484=)
c.2973A>C (p.Gly991=)
c.3237A>C (p.Gly1079=)
c.2129-428A>C (n.2129-428A>C)
n.3310A>C
n.3518A>C
c.2727A>C (p.Gly909=)
c.1752A>C (p.Gly584=)
c.2466A>C (p.Gly822=)
c.3444A>C (p.Gly1148=)
n.3262A>C
n.3470A>C
1g.197435172A>GCA422809137CRB1c.3309A>G (p.Gly1103=)
c.2190A>G (p.Gly730=)
c.1452A>G (p.Gly484=)
c.2973A>G (p.Gly991=)
c.3237A>G (p.Gly1079=)
c.2129-428A>G (n.2129-428A>G)
n.3310A>G
n.3518A>G
c.2727A>G (p.Gly909=)
c.1752A>G (p.Gly584=)
c.2466A>G (p.Gly822=)
c.3444A>G (p.Gly1148=)
n.3262A>G
n.3470A>G
 ClinVar
1g.197435172A>TCA422809136CRB1c.3309A>T (p.Gly1103=)
c.2190A>T (p.Gly730=)
c.1452A>T (p.Gly484=)
c.2973A>T (p.Gly991=)
c.3237A>T (p.Gly1079=)
c.2129-428A>T (n.2129-428A>T)
n.3310A>T
n.3518A>T
c.2727A>T (p.Gly909=)
c.1752A>T (p.Gly584=)
c.2466A>T (p.Gly822=)
c.3444A>T (p.Gly1148=)
n.3262A>T
n.3470A>T
1g.197435173G>ACA35907397CRB1c.3310G>A (p.Gly1104Ser)
c.2191G>A (p.Gly731Ser)
c.1453G>A (p.Gly485Ser)
c.2974G>A (p.Gly992Ser)
c.3238G>A (p.Gly1080Ser)
c.2129-427G>A (n.2129-427G>A)
n.3311G>A
n.3519G>A
c.2728G>A (p.Gly910Ser)
c.1753G>A (p.Gly585Ser)
c.2467G>A (p.Gly823Ser)
c.3445G>A (p.Gly1149Ser)
n.3263G>A
n.3471G>A
 dbSNP gnomAD v3 gnomAD v4
1g.197435173G>CCA344047042CRB1c.3310G>C (p.Gly1104Arg)
c.2191G>C (p.Gly731Arg)
c.1453G>C (p.Gly485Arg)
c.2974G>C (p.Gly992Arg)
c.3238G>C (p.Gly1080Arg)
c.2129-427G>C (n.2129-427G>C)
n.3311G>C
n.3519G>C
c.2728G>C (p.Gly910Arg)
c.1753G>C (p.Gly585Arg)
c.2467G>C (p.Gly823Arg)
c.3445G>C (p.Gly1149Arg)
n.3263G>C
n.3471G>C
1g.197435173G=CA1218068824CRB1c.3310G= (p.Gly1104=)
c.2191G= (p.Gly731=)
c.1453G= (p.Gly485=)
c.2974G= (p.Gly992=)
c.3238G= (p.Gly1080=)
c.2129-427G= (n.2129-427G=)
n.3311G=
n.3519G=
c.2728G= (p.Gly910=)
c.1753G= (p.Gly585=)
c.2467G= (p.Gly823=)
c.3445G= (p.Gly1149=)
n.3263G=
n.3471G=
1g.197435173G>TCA344047043CRB1c.3310G>T (p.Gly1104Cys)
c.2191G>T (p.Gly731Cys)
c.1453G>T (p.Gly485Cys)
c.2974G>T (p.Gly992Cys)
c.3238G>T (p.Gly1080Cys)
c.2129-427G>T (n.2129-427G>T)
n.3311G>T
n.3519G>T
c.2728G>T (p.Gly910Cys)
c.1753G>T (p.Gly585Cys)
c.2467G>T (p.Gly823Cys)
c.3445G>T (p.Gly1149Cys)
n.3263G>T
n.3471G>T
1g.197435174G>ACA344047044CRB1c.3311G>A (p.Gly1104Asp)
c.2192G>A (p.Gly731Asp)
c.1454G>A (p.Gly485Asp)
c.2975G>A (p.Gly992Asp)
c.3239G>A (p.Gly1080Asp)
c.2129-426G>A (n.2129-426G>A)
n.3312G>A
n.3520G>A
c.2729G>A (p.Gly910Asp)
c.1754G>A (p.Gly585Asp)
c.2468G>A (p.Gly823Asp)
c.3446G>A (p.Gly1149Asp)
n.3264G>A
n.3472G>A
 dbSNP gnomAD v4
1g.197435174G>CCA344047045CRB1c.3311G>C (p.Gly1104Ala)
c.2192G>C (p.Gly731Ala)
c.1454G>C (p.Gly485Ala)
c.2975G>C (p.Gly992Ala)
c.3239G>C (p.Gly1080Ala)
c.2129-426G>C (n.2129-426G>C)
n.3312G>C
n.3520G>C
c.2729G>C (p.Gly910Ala)
c.1754G>C (p.Gly585Ala)
c.2468G>C (p.Gly823Ala)
c.3446G>C (p.Gly1149Ala)
n.3264G>C
n.3472G>C
1g.197435174G=CA1218068825CRB1c.3311G= (p.Gly1104=)
c.2192G= (p.Gly731=)
c.1454G= (p.Gly485=)
c.2975G= (p.Gly992=)
c.3239G= (p.Gly1080=)
c.2129-426G= (n.2129-426G=)
n.3312G=
n.3520G=
c.2729G= (p.Gly910=)
c.1754G= (p.Gly585=)
c.2468G= (p.Gly823=)
c.3446G= (p.Gly1149=)
n.3264G=
n.3472G=
1g.197435174G>TCA344047046CRB1c.3311G>T (p.Gly1104Val)
c.2192G>T (p.Gly731Val)
c.1454G>T (p.Gly485Val)
c.2975G>T (p.Gly992Val)
c.3239G>T (p.Gly1080Val)
c.2129-426G>T (n.2129-426G>T)
n.3312G>T
n.3520G>T
c.2729G>T (p.Gly910Val)
c.1754G>T (p.Gly585Val)
c.2468G>T (p.Gly823Val)
c.3446G>T (p.Gly1149Val)
n.3264G>T
n.3472G>T
1g.197435175C>ACA422809143CRB1c.3312C>A (p.Gly1104=)
c.2193C>A (p.Gly731=)
c.1455C>A (p.Gly485=)
c.2976C>A (p.Gly992=)
c.3240C>A (p.Gly1080=)
c.2129-425C>A (n.2129-425C>A)
n.3313C>A
n.3521C>A
c.2730C>A (p.Gly910=)
c.1755C>A (p.Gly585=)
c.2469C>A (p.Gly823=)
c.3447C>A (p.Gly1149=)
n.3265C>A
n.3473C>A
1g.197435175C>GCA422809144CRB1c.3312C>G (p.Gly1104=)
c.2193C>G (p.Gly731=)
c.1455C>G (p.Gly485=)
c.2976C>G (p.Gly992=)
c.3240C>G (p.Gly1080=)
c.2129-425C>G (n.2129-425C>G)
n.3313C>G
n.3521C>G
c.2730C>G (p.Gly910=)
c.1755C>G (p.Gly585=)
c.2469C>G (p.Gly823=)
c.3447C>G (p.Gly1149=)
n.3265C>G
n.3473C>G
 ClinVar
1g.197435175C>TCA422809145CRB1c.3312C>T (p.Gly1104=)
c.2193C>T (p.Gly731=)
c.1455C>T (p.Gly485=)
c.2976C>T (p.Gly992=)
c.3240C>T (p.Gly1080=)
c.2129-425C>T (n.2129-425C>T)
n.3313C>T
n.3521C>T
c.2730C>T (p.Gly910=)
c.1755C>T (p.Gly585=)
c.2469C>T (p.Gly823=)
c.3447C>T (p.Gly1149=)
n.3265C>T
n.3473C>T
 ClinVar
1g.197435176A=CA1218068826CRB1c.3313A= (p.Ile1105=)
c.2194A= (p.Ile732=)
c.1456A= (p.Ile486=)
c.2977A= (p.Ile993=)
c.3241A= (p.Ile1081=)
c.2129-424A= (n.2129-424A=)
n.3314A=
n.3522A=
c.2731A= (p.Ile911=)
c.1756A= (p.Ile586=)
c.2470A= (p.Ile824=)
c.3448A= (p.Ile1150=)
n.3266A=
n.3474A=
1g.197435176A>CCA344047048CRB1c.3313A>C (p.Ile1105Leu)
c.2194A>C (p.Ile732Leu)
c.1456A>C (p.Ile486Leu)
c.2977A>C (p.Ile993Leu)
c.3241A>C (p.Ile1081Leu)
c.2129-424A>C (n.2129-424A>C)
n.3314A>C
n.3522A>C
c.2731A>C (p.Ile911Leu)
c.1756A>C (p.Ile586Leu)
c.2470A>C (p.Ile824Leu)
c.3448A>C (p.Ile1150Leu)
n.3266A>C
n.3474A>C
1g.197435176A>GCA1312315CRB1c.3313A>G (p.Ile1105Val)
c.2194A>G (p.Ile732Val)
c.1456A>G (p.Ile486Val)
c.2977A>G (p.Ile993Val)
c.3241A>G (p.Ile1081Val)
c.2129-424A>G (n.2129-424A>G)
n.3314A>G
n.3522A>G
c.2731A>G (p.Ile911Val)
c.1756A>G (p.Ile586Val)
c.2470A>G (p.Ile824Val)
c.3448A>G (p.Ile1150Val)
n.3266A>G
n.3474A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435176A>TCA344047047CRB1c.3313A>T (p.Ile1105Phe)
c.2194A>T (p.Ile732Phe)
c.1456A>T (p.Ile486Phe)
c.2977A>T (p.Ile993Phe)
c.3241A>T (p.Ile1081Phe)
c.2129-424A>T (n.2129-424A>T)
n.3314A>T
n.3522A>T
c.2731A>T (p.Ile911Phe)
c.1756A>T (p.Ile586Phe)
c.2470A>T (p.Ile824Phe)
c.3448A>T (p.Ile1150Phe)
n.3266A>T
n.3474A>T
1g.197435177T>ACA344047049CRB1c.3314T>A (p.Ile1105Asn)
c.2195T>A (p.Ile732Asn)
c.1457T>A (p.Ile486Asn)
c.2978T>A (p.Ile993Asn)
c.3242T>A (p.Ile1081Asn)
c.2129-423T>A (n.2129-423T>A)
n.3315T>A
n.3523T>A
c.2732T>A (p.Ile911Asn)
c.1757T>A (p.Ile586Asn)
c.2471T>A (p.Ile824Asn)
c.3449T>A (p.Ile1150Asn)
n.3267T>A
n.3475T>A
1g.197435177T>CCA344047050CRB1c.3314T>C (p.Ile1105Thr)
c.2195T>C (p.Ile732Thr)
c.1457T>C (p.Ile486Thr)
c.2978T>C (p.Ile993Thr)
c.3242T>C (p.Ile1081Thr)
c.2129-423T>C (n.2129-423T>C)
n.3315T>C
n.3523T>C
c.2732T>C (p.Ile911Thr)
c.1757T>C (p.Ile586Thr)
c.2471T>C (p.Ile824Thr)
c.3449T>C (p.Ile1150Thr)
n.3267T>C
n.3475T>C
1g.197435177T>GCA344047051CRB1c.3314T>G (p.Ile1105Ser)
c.2195T>G (p.Ile732Ser)
c.1457T>G (p.Ile486Ser)
c.2978T>G (p.Ile993Ser)
c.3242T>G (p.Ile1081Ser)
c.2129-423T>G (n.2129-423T>G)
n.3315T>G
n.3523T>G
c.2732T>G (p.Ile911Ser)
c.1757T>G (p.Ile586Ser)
c.2471T>G (p.Ile824Ser)
c.3449T>G (p.Ile1150Ser)
n.3267T>G
n.3475T>G
1g.197435179_197435193dupCA1218068827CRB1c.3316_3330dup (p.Phe1110_Glu1111insTyrLeuSerTyrPhe)
c.2197_2211dup (p.Phe737_Glu738insTyrLeuSerTyrPhe)
c.1459_1473dup (p.Phe491_Glu492insTyrLeuSerTyrPhe)
c.2980_2994dup (p.Phe998_Glu999insTyrLeuSerTyrPhe)
c.3244_3258dup (p.Phe1086_Glu1087insTyrLeuSerTyrPhe)
c.2129-421_2129-407dup (n.2129-421_2129-407dup)
n.3317_3331dup
n.3525_3539dup
c.2734_2748dup (p.Phe916_Glu917insTyrLeuSerTyrPhe)
c.1759_1773dup (p.Phe591_Glu592insTyrLeuSerTyrPhe)
c.2473_2487dup (p.Phe829_Glu830insTyrLeuSerTyrPhe)
c.3451_3465dup (p.Phe1155_Glu1156insTyrLeuSerTyrPhe)
n.3269_3283dup
n.3477_3491dup
 dbSNP
1g.197435178T>ACA422809152CRB1c.3315T>A (p.Ile1105=)
c.2196T>A (p.Ile732=)
c.1458T>A (p.Ile486=)
c.2979T>A (p.Ile993=)
c.3243T>A (p.Ile1081=)
c.2129-422T>A (n.2129-422T>A)
n.3316T>A
n.3524T>A
c.2733T>A (p.Ile911=)
c.1758T>A (p.Ile586=)
c.2472T>A (p.Ile824=)
c.3450T>A (p.Ile1150=)
n.3268T>A
n.3476T>A
1g.197435178T>CCA422809153CRB1c.3315T>C (p.Ile1105=)
c.2196T>C (p.Ile732=)
c.1458T>C (p.Ile486=)
c.2979T>C (p.Ile993=)
c.3243T>C (p.Ile1081=)
c.2129-422T>C (n.2129-422T>C)
n.3316T>C
n.3524T>C
c.2733T>C (p.Ile911=)
c.1758T>C (p.Ile586=)
c.2472T>C (p.Ile824=)
c.3450T>C (p.Ile1150=)
n.3268T>C
n.3476T>C
1g.197435178T>GCA344047052CRB1c.3315T>G (p.Ile1105Met)
c.2196T>G (p.Ile732Met)
c.1458T>G (p.Ile486Met)
c.2979T>G (p.Ile993Met)
c.3243T>G (p.Ile1081Met)
c.2129-422T>G (n.2129-422T>G)
n.3316T>G
n.3524T>G
c.2733T>G (p.Ile911Met)
c.1758T>G (p.Ile586Met)
c.2472T>G (p.Ile824Met)
c.3450T>G (p.Ile1150Met)
n.3268T>G
n.3476T>G
1g.197435179T>ACA344047055CRB1c.3316T>A (p.Tyr1106Asn)
c.2197T>A (p.Tyr733Asn)
c.1459T>A (p.Tyr487Asn)
c.2980T>A (p.Tyr994Asn)
c.3244T>A (p.Tyr1082Asn)
c.2129-421T>A (n.2129-421T>A)
n.3317T>A
n.3525T>A
c.2734T>A (p.Tyr912Asn)
c.1759T>A (p.Tyr587Asn)
c.2473T>A (p.Tyr825Asn)
c.3451T>A (p.Tyr1151Asn)
n.3269T>A
n.3477T>A
1g.197435179T>CCA344047054CRB1c.3316T>C (p.Tyr1106His)
c.2197T>C (p.Tyr733His)
c.1459T>C (p.Tyr487His)
c.2980T>C (p.Tyr994His)
c.3244T>C (p.Tyr1082His)
c.2129-421T>C (n.2129-421T>C)
n.3317T>C
n.3525T>C
c.2734T>C (p.Tyr912His)
c.1759T>C (p.Tyr587His)
c.2473T>C (p.Tyr825His)
c.3451T>C (p.Tyr1151His)
n.3269T>C
n.3477T>C
1g.197435179T>GCA344047053CRB1c.3316T>G (p.Tyr1106Asp)
c.2197T>G (p.Tyr733Asp)
c.1459T>G (p.Tyr487Asp)
c.2980T>G (p.Tyr994Asp)
c.3244T>G (p.Tyr1082Asp)
c.2129-421T>G (n.2129-421T>G)
n.3317T>G
n.3525T>G
c.2734T>G (p.Tyr912Asp)
c.1759T>G (p.Tyr587Asp)
c.2473T>G (p.Tyr825Asp)
c.3451T>G (p.Tyr1151Asp)
n.3269T>G
n.3477T>G
1g.197435180A=CA1141480371CRB1c.3317A= (p.Tyr1106=)
c.2198A= (p.Tyr733=)
c.1460A= (p.Tyr487=)
c.2981A= (p.Tyr994=)
c.3245A= (p.Tyr1082=)
c.2129-420A= (n.2129-420A=)
n.3318A=
n.3526A=
c.2735A= (p.Tyr912=)
c.1760A= (p.Tyr587=)
c.2474A= (p.Tyr825=)
c.3452A= (p.Tyr1151=)
n.3270A=
n.3478A=
1g.197435180A>CCA344047056CRB1c.3317A>C (p.Tyr1106Ser)
c.2198A>C (p.Tyr733Ser)
c.1460A>C (p.Tyr487Ser)
c.2981A>C (p.Tyr994Ser)
c.3245A>C (p.Tyr1082Ser)
c.2129-420A>C (n.2129-420A>C)
n.3318A>C
n.3526A>C
c.2735A>C (p.Tyr912Ser)
c.1760A>C (p.Tyr587Ser)
c.2474A>C (p.Tyr825Ser)
c.3452A>C (p.Tyr1151Ser)
n.3270A>C
n.3478A>C
1g.197435180A>GCA248281CRB1c.3317A>G (p.Tyr1106Cys)
c.2198A>G (p.Tyr733Cys)
c.1460A>G (p.Tyr487Cys)
c.2981A>G (p.Tyr994Cys)
c.3245A>G (p.Tyr1082Cys)
c.2129-420A>G (n.2129-420A>G)
n.3318A>G
n.3526A>G
c.2735A>G (p.Tyr912Cys)
c.1760A>G (p.Tyr587Cys)
c.2474A>G (p.Tyr825Cys)
c.3452A>G (p.Tyr1151Cys)
n.3270A>G
n.3478A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435180A>TCA1312316CRB1c.3317A>T (p.Tyr1106Phe)
c.2198A>T (p.Tyr733Phe)
c.1460A>T (p.Tyr487Phe)
c.2981A>T (p.Tyr994Phe)
c.3245A>T (p.Tyr1082Phe)
c.2129-420A>T (n.2129-420A>T)
n.3318A>T
n.3526A>T
c.2735A>T (p.Tyr912Phe)
c.1760A>T (p.Tyr587Phe)
c.2474A>T (p.Tyr825Phe)
c.3452A>T (p.Tyr1151Phe)
n.3270A>T
n.3478A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197435181T>ACA344047057CRB1c.3318T>A (p.Tyr1106Ter)
c.2199T>A (p.Tyr733Ter)
c.1461T>A (p.Tyr487Ter)
c.2982T>A (p.Tyr994Ter)
c.3246T>A (p.Tyr1082Ter)
c.2129-419T>A (n.2129-419T>A)
n.3319T>A
n.3527T>A
c.2736T>A (p.Tyr912Ter)
c.1761T>A (p.Tyr587Ter)
c.2475T>A (p.Tyr825Ter)
c.3453T>A (p.Tyr1151Ter)
n.3271T>A
n.3479T>A
1g.197435181T>CCA1312317CRB1c.3318T>C (p.Tyr1106=)
c.2199T>C (p.Tyr733=)
c.1461T>C (p.Tyr487=)
c.2982T>C (p.Tyr994=)
c.3246T>C (p.Tyr1082=)
c.2129-419T>C (n.2129-419T>C)
n.3319T>C
n.3527T>C
c.2736T>C (p.Tyr912=)
c.1761T>C (p.Tyr587=)
c.2475T>C (p.Tyr825=)
c.3453T>C (p.Tyr1151=)
n.3271T>C
n.3479T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435181T>GCA344047058CRB1c.3318T>G (p.Tyr1106Ter)
c.2199T>G (p.Tyr733Ter)
c.1461T>G (p.Tyr487Ter)
c.2982T>G (p.Tyr994Ter)
c.3246T>G (p.Tyr1082Ter)
c.2129-419T>G (n.2129-419T>G)
n.3319T>G
n.3527T>G
c.2736T>G (p.Tyr912Ter)
c.1761T>G (p.Tyr587Ter)
c.2475T>G (p.Tyr825Ter)
c.3453T>G (p.Tyr1151Ter)
n.3271T>G
n.3479T>G
 ClinVar
1g.197435181T=CA1142820985CRB1c.3318T= (p.Tyr1106=)
c.2199T= (p.Tyr733=)
c.1461T= (p.Tyr487=)
c.2982T= (p.Tyr994=)
c.3246T= (p.Tyr1082=)
c.2129-419T= (n.2129-419T=)
n.3319T=
n.3527T=
c.2736T= (p.Tyr912=)
c.1761T= (p.Tyr587=)
c.2475T= (p.Tyr825=)
c.3453T= (p.Tyr1151=)
n.3271T=
n.3479T=
1g.197435184_197435187delCA2649670644CRB1c.3321_3324del (p.Ser1108ThrfsTer?)
c.2202_2205del (p.Ser735ThrfsTer?)
c.1464_1467del (p.Ser489ThrfsTer?)
c.2985_2988del (p.Ser996ThrfsTer?)
c.3249_3252del (p.Ser1084ThrfsTer?)
c.2129-416_2129-413del (n.2129-416_2129-413del)
n.3322_3325del
n.3530_3533del
c.2739_2742del (p.Ser914ThrfsTer?)
c.1764_1767del (p.Ser589ThrfsTer?)
c.2478_2481del (p.Ser827ThrfsTer?)
c.3456_3459del (p.Ser1153ThrfsTer?)
n.3274_3277del
n.3482_3485del
 gnomAD v4
1g.197435182C>ACA344047059CRB1c.3319C>A (p.Leu1107Ile)
c.2200C>A (p.Leu734Ile)
c.1462C>A (p.Leu488Ile)
c.2983C>A (p.Leu995Ile)
c.3247C>A (p.Leu1083Ile)
c.2129-418C>A (n.2129-418C>A)
n.3320C>A
n.3528C>A
c.2737C>A (p.Leu913Ile)
c.1762C>A (p.Leu588Ile)
c.2476C>A (p.Leu826Ile)
c.3454C>A (p.Leu1152Ile)
n.3272C>A
n.3480C>A
1g.197435182C>GCA344047061CRB1c.3319C>G (p.Leu1107Val)
c.2200C>G (p.Leu734Val)
c.1462C>G (p.Leu488Val)
c.2983C>G (p.Leu995Val)
c.3247C>G (p.Leu1083Val)
c.2129-418C>G (n.2129-418C>G)
n.3320C>G
n.3528C>G
c.2737C>G (p.Leu913Val)
c.1762C>G (p.Leu588Val)
c.2476C>G (p.Leu826Val)
c.3454C>G (p.Leu1152Val)
n.3272C>G
n.3480C>G
1g.197435182C>TCA344047060CRB1c.3319C>T (p.Leu1107Phe)
c.2200C>T (p.Leu734Phe)
c.1462C>T (p.Leu488Phe)
c.2983C>T (p.Leu995Phe)
c.3247C>T (p.Leu1083Phe)
c.2129-418C>T (n.2129-418C>T)
n.3320C>T
n.3528C>T
c.2737C>T (p.Leu913Phe)
c.1762C>T (p.Leu588Phe)
c.2476C>T (p.Leu826Phe)
c.3454C>T (p.Leu1152Phe)
n.3272C>T
n.3480C>T
 gnomAD v4 COSMIC COSMIC
1g.197435183T>ACA344047062CRB1c.3320T>A (p.Leu1107His)
c.2201T>A (p.Leu734His)
c.1463T>A (p.Leu488His)
c.2984T>A (p.Leu995His)
c.3248T>A (p.Leu1083His)
c.2129-417T>A (n.2129-417T>A)
n.3321T>A
n.3529T>A
c.2738T>A (p.Leu913His)
c.1763T>A (p.Leu588His)
c.2477T>A (p.Leu826His)
c.3455T>A (p.Leu1152His)
n.3273T>A
n.3481T>A
1g.197435183T>CCA228036CRB1c.3320T>C (p.Leu1107Pro)
c.2201T>C (p.Leu734Pro)
c.1463T>C (p.Leu488Pro)
c.2984T>C (p.Leu995Pro)
c.3248T>C (p.Leu1083Pro)
c.2129-417T>C (n.2129-417T>C)
n.3321T>C
n.3529T>C
c.2738T>C (p.Leu913Pro)
c.1763T>C (p.Leu588Pro)
c.2477T>C (p.Leu826Pro)
c.3455T>C (p.Leu1152Pro)
n.3273T>C
n.3481T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197435183T>GCA228037CRB1c.3320T>G (p.Leu1107Arg)
c.2201T>G (p.Leu734Arg)
c.1463T>G (p.Leu488Arg)
c.2984T>G (p.Leu995Arg)
c.3248T>G (p.Leu1083Arg)
c.2129-417T>G (n.2129-417T>G)
n.3321T>G
n.3529T>G
c.2738T>G (p.Leu913Arg)
c.1763T>G (p.Leu588Arg)
c.2477T>G (p.Leu826Arg)
c.3455T>G (p.Leu1152Arg)
n.3273T>G
n.3481T>G
 ClinVar dbSNP
1g.197435183T=CA1140762965CRB1c.3320T= (p.Leu1107=)
c.2201T= (p.Leu734=)
c.1463T= (p.Leu488=)
c.2984T= (p.Leu995=)
c.3248T= (p.Leu1083=)
c.2129-417T= (n.2129-417T=)
n.3321T=
n.3529T=
c.2738T= (p.Leu913=)
c.1763T= (p.Leu588=)
c.2477T= (p.Leu826=)
c.3455T= (p.Leu1152=)
n.3273T=
n.3481T=
1g.197435184C>ACA422809163CRB1c.3321C>A (p.Leu1107=)
c.2202C>A (p.Leu734=)
c.1464C>A (p.Leu488=)
c.2985C>A (p.Leu995=)
c.3249C>A (p.Leu1083=)
c.2129-416C>A (n.2129-416C>A)
n.3322C>A
n.3530C>A
c.2739C>A (p.Leu913=)
c.1764C>A (p.Leu588=)
c.2478C>A (p.Leu826=)
c.3456C>A (p.Leu1152=)
n.3274C>A
n.3482C>A
1g.197435184C>GCA422809164CRB1c.3321C>G (p.Leu1107=)
c.2202C>G (p.Leu734=)
c.1464C>G (p.Leu488=)
c.2985C>G (p.Leu995=)
c.3249C>G (p.Leu1083=)
c.2129-416C>G (n.2129-416C>G)
n.3322C>G
n.3530C>G
c.2739C>G (p.Leu913=)
c.1764C>G (p.Leu588=)
c.2478C>G (p.Leu826=)
c.3456C>G (p.Leu1152=)
n.3274C>G
n.3482C>G
 gnomAD v4
1g.197435184C>TCA422809165CRB1c.3321C>T (p.Leu1107=)
c.2202C>T (p.Leu734=)
c.1464C>T (p.Leu488=)
c.2985C>T (p.Leu995=)
c.3249C>T (p.Leu1083=)
c.2129-416C>T (n.2129-416C>T)
n.3322C>T
n.3530C>T
c.2739C>T (p.Leu913=)
c.1764C>T (p.Leu588=)
c.2478C>T (p.Leu826=)
c.3456C>T (p.Leu1152=)
n.3274C>T
n.3482C>T
1g.197435185T>ACA344047065CRB1c.3322T>A (p.Ser1108Thr)
c.2203T>A (p.Ser735Thr)
c.1465T>A (p.Ser489Thr)
c.2986T>A (p.Ser996Thr)
c.3250T>A (p.Ser1084Thr)
c.2129-415T>A (n.2129-415T>A)
n.3323T>A
n.3531T>A
c.2740T>A (p.Ser914Thr)
c.1765T>A (p.Ser589Thr)
c.2479T>A (p.Ser827Thr)
c.3457T>A (p.Ser1153Thr)
n.3275T>A
n.3483T>A
1g.197435185T>CCA344047068CRB1c.3322T>C (p.Ser1108Pro)
c.2203T>C (p.Ser735Pro)
c.1465T>C (p.Ser489Pro)
c.2986T>C (p.Ser996Pro)
c.3250T>C (p.Ser1084Pro)
c.2129-415T>C (n.2129-415T>C)
n.3323T>C
n.3531T>C
c.2740T>C (p.Ser914Pro)
c.1765T>C (p.Ser589Pro)
c.2479T>C (p.Ser827Pro)
c.3457T>C (p.Ser1153Pro)
n.3275T>C
n.3483T>C
1g.197435185T>GCA344047067CRB1c.3322T>G (p.Ser1108Ala)
c.2203T>G (p.Ser735Ala)
c.1465T>G (p.Ser489Ala)
c.2986T>G (p.Ser996Ala)
c.3250T>G (p.Ser1084Ala)
c.2129-415T>G (n.2129-415T>G)
n.3323T>G
n.3531T>G
c.2740T>G (p.Ser914Ala)
c.1765T>G (p.Ser589Ala)
c.2479T>G (p.Ser827Ala)
c.3457T>G (p.Ser1153Ala)
n.3275T>G
n.3483T>G
1g.197435186C>ACA344047071CRB1c.3323C>A (p.Ser1108Tyr)
c.2204C>A (p.Ser735Tyr)
c.1466C>A (p.Ser489Tyr)
c.2987C>A (p.Ser996Tyr)
c.3251C>A (p.Ser1084Tyr)
c.2129-414C>A (n.2129-414C>A)
n.3324C>A
n.3532C>A
c.2741C>A (p.Ser914Tyr)
c.1766C>A (p.Ser589Tyr)
c.2480C>A (p.Ser827Tyr)
c.3458C>A (p.Ser1153Tyr)
n.3276C>A
n.3484C>A
1g.197435186C>GCA344047074CRB1c.3323C>G (p.Ser1108Cys)
c.2204C>G (p.Ser735Cys)
c.1466C>G (p.Ser489Cys)
c.2987C>G (p.Ser996Cys)
c.3251C>G (p.Ser1084Cys)
c.2129-414C>G (n.2129-414C>G)
n.3324C>G
n.3532C>G
c.2741C>G (p.Ser914Cys)
c.1766C>G (p.Ser589Cys)
c.2480C>G (p.Ser827Cys)
c.3458C>G (p.Ser1153Cys)
n.3276C>G
n.3484C>G
1g.197435186C>TCA344047073CRB1c.3323C>T (p.Ser1108Phe)
c.2204C>T (p.Ser735Phe)
c.1466C>T (p.Ser489Phe)
c.2987C>T (p.Ser996Phe)
c.3251C>T (p.Ser1084Phe)
c.2129-414C>T (n.2129-414C>T)
n.3324C>T
n.3532C>T
c.2741C>T (p.Ser914Phe)
c.1766C>T (p.Ser589Phe)
c.2480C>T (p.Ser827Phe)
c.3458C>T (p.Ser1153Phe)
n.3276C>T
n.3484C>T
 COSMIC COSMIC
1g.197435187T>ACA422809175CRB1c.3324T>A (p.Ser1108=)
c.2205T>A (p.Ser735=)
c.1467T>A (p.Ser489=)
c.2988T>A (p.Ser996=)
c.3252T>A (p.Ser1084=)
c.2129-413T>A (n.2129-413T>A)
n.3325T>A
n.3533T>A
c.2742T>A (p.Ser914=)
c.1767T>A (p.Ser589=)
c.2481T>A (p.Ser827=)
c.3459T>A (p.Ser1153=)
n.3277T>A
n.3485T>A
1g.197435187T>CCA422809174CRB1c.3324T>C (p.Ser1108=)
c.2205T>C (p.Ser735=)
c.1467T>C (p.Ser489=)
c.2988T>C (p.Ser996=)
c.3252T>C (p.Ser1084=)
c.2129-413T>C (n.2129-413T>C)
n.3325T>C
n.3533T>C
c.2742T>C (p.Ser914=)
c.1767T>C (p.Ser589=)
c.2481T>C (p.Ser827=)
c.3459T>C (p.Ser1153=)
n.3277T>C
n.3485T>C
 dbSNP
1g.197435187T>GCA422809173CRB1c.3324T>G (p.Ser1108=)
c.2205T>G (p.Ser735=)
c.1467T>G (p.Ser489=)
c.2988T>G (p.Ser996=)
c.3252T>G (p.Ser1084=)
c.2129-413T>G (n.2129-413T>G)
n.3325T>G
n.3533T>G
c.2742T>G (p.Ser914=)
c.1767T>G (p.Ser589=)
c.2481T>G (p.Ser827=)
c.3459T>G (p.Ser1153=)
n.3277T>G
n.3485T>G
1g.197435187T=CA1218068828CRB1c.3324T= (p.Ser1108=)
c.2205T= (p.Ser735=)
c.1467T= (p.Ser489=)
c.2988T= (p.Ser996=)
c.3252T= (p.Ser1084=)
c.2129-413T= (n.2129-413T=)
n.3325T=
n.3533T=
c.2742T= (p.Ser914=)
c.1767T= (p.Ser589=)
c.2481T= (p.Ser827=)
c.3459T= (p.Ser1153=)
n.3277T=
n.3485T=
1g.197435188dupCA2499214383CRB1c.3325dup (p.Tyr1109LeufsTer3)
c.2206dup (p.Tyr736LeufsTer3)
c.1468dup (p.Tyr490LeufsTer3)
c.2989dup (p.Tyr997LeufsTer3)
c.3253dup (p.Tyr1085LeufsTer3)
c.2129-412dup (n.2129-412dup)
n.3326dup
n.3534dup
c.2743dup (p.Tyr915LeufsTer3)
c.1768dup (p.Tyr590LeufsTer3)
c.2482dup (p.Tyr828LeufsTer3)
c.3460dup (p.Tyr1154LeufsTer3)
n.3278dup
n.3486dup
 ClinVar dbSNP
1g.197435188T>ACA344047075CRB1c.3325T>A (p.Tyr1109Asn)
c.2206T>A (p.Tyr736Asn)
c.1468T>A (p.Tyr490Asn)
c.2989T>A (p.Tyr997Asn)
c.3253T>A (p.Tyr1085Asn)
c.2129-412T>A (n.2129-412T>A)
n.3326T>A
n.3534T>A
c.2743T>A (p.Tyr915Asn)
c.1768T>A (p.Tyr590Asn)
c.2482T>A (p.Tyr828Asn)
c.3460T>A (p.Tyr1154Asn)
n.3278T>A
n.3486T>A
1g.197435188T>CCA344047076CRB1c.3325T>C (p.Tyr1109His)
c.2206T>C (p.Tyr736His)
c.1468T>C (p.Tyr490His)
c.2989T>C (p.Tyr997His)
c.3253T>C (p.Tyr1085His)
c.2129-412T>C (n.2129-412T>C)
n.3326T>C
n.3534T>C
c.2743T>C (p.Tyr915His)
c.1768T>C (p.Tyr590His)
c.2482T>C (p.Tyr828His)
c.3460T>C (p.Tyr1154His)
n.3278T>C
n.3486T>C
 gnomAD v4
1g.197435188T>GCA344047077CRB1c.3325T>G (p.Tyr1109Asp)
c.2206T>G (p.Tyr736Asp)
c.1468T>G (p.Tyr490Asp)
c.2989T>G (p.Tyr997Asp)
c.3253T>G (p.Tyr1085Asp)
c.2129-412T>G (n.2129-412T>G)
n.3326T>G
n.3534T>G
c.2743T>G (p.Tyr915Asp)
c.1768T>G (p.Tyr590Asp)
c.2482T>G (p.Tyr828Asp)
c.3460T>G (p.Tyr1154Asp)
n.3278T>G
n.3486T>G
1g.197435188_197435189delCA2573131450CRB1c.3325_3326del (p.Tyr1109LeufsTer2)
c.2206_2207del (p.Tyr736LeufsTer2)
c.1468_1469del (p.Tyr490LeufsTer2)
c.2989_2990del (p.Tyr997LeufsTer2)
c.3253_3254del (p.Tyr1085LeufsTer2)
c.2129-412_2129-411del (n.2129-412_2129-411del)
n.3326_3327del
n.3534_3535del
c.2743_2744del (p.Tyr915LeufsTer2)
c.1768_1769del (p.Tyr590LeufsTer2)
c.2482_2483del (p.Tyr828LeufsTer2)
c.3460_3461del (p.Tyr1154LeufsTer2)
n.3278_3279del
n.3486_3487del
 ClinVar dbSNP
1g.197435189A>CCA344047079CRB1c.3326A>C (p.Tyr1109Ser)
c.2207A>C (p.Tyr736Ser)
c.1469A>C (p.Tyr490Ser)
c.2990A>C (p.Tyr997Ser)
c.3254A>C (p.Tyr1085Ser)
c.2129-411A>C (n.2129-411A>C)
n.3327A>C
n.3535A>C
c.2744A>C (p.Tyr915Ser)
c.1769A>C (p.Tyr590Ser)
c.2483A>C (p.Tyr828Ser)
c.3461A>C (p.Tyr1154Ser)
n.3279A>C
n.3487A>C
1g.197435189A>GCA344047080CRB1c.3326A>G (p.Tyr1109Cys)
c.2207A>G (p.Tyr736Cys)
c.1469A>G (p.Tyr490Cys)
c.2990A>G (p.Tyr997Cys)
c.3254A>G (p.Tyr1085Cys)
c.2129-411A>G (n.2129-411A>G)
n.3327A>G
n.3535A>G
c.2744A>G (p.Tyr915Cys)
c.1769A>G (p.Tyr590Cys)
c.2483A>G (p.Tyr828Cys)
c.3461A>G (p.Tyr1154Cys)
n.3279A>G
n.3487A>G
1g.197435189A>TCA344047082CRB1c.3326A>T (p.Tyr1109Phe)
c.2207A>T (p.Tyr736Phe)
c.1469A>T (p.Tyr490Phe)
c.2990A>T (p.Tyr997Phe)
c.3254A>T (p.Tyr1085Phe)
c.2129-411A>T (n.2129-411A>T)
n.3327A>T
n.3535A>T
c.2744A>T (p.Tyr915Phe)
c.1769A>T (p.Tyr590Phe)
c.2483A>T (p.Tyr828Phe)
c.3461A>T (p.Tyr1154Phe)
n.3279A>T
n.3487A>T
1g.197435190C>ACA344047084CRB1c.3327C>A (p.Tyr1109Ter)
c.2208C>A (p.Tyr736Ter)
c.1470C>A (p.Tyr490Ter)
c.2991C>A (p.Tyr997Ter)
c.3255C>A (p.Tyr1085Ter)
c.2129-410C>A (n.2129-410C>A)
n.3328C>A
n.3536C>A
c.2745C>A (p.Tyr915Ter)
c.1770C>A (p.Tyr590Ter)
c.2484C>A (p.Tyr828Ter)
c.3462C>A (p.Tyr1154Ter)
n.3280C>A
n.3488C>A
1g.197435190C>GCA344047086CRB1c.3327C>G (p.Tyr1109Ter)
c.2208C>G (p.Tyr736Ter)
c.1470C>G (p.Tyr490Ter)
c.2991C>G (p.Tyr997Ter)
c.3255C>G (p.Tyr1085Ter)
c.2129-410C>G (n.2129-410C>G)
n.3328C>G
n.3536C>G
c.2745C>G (p.Tyr915Ter)
c.1770C>G (p.Tyr590Ter)
c.2484C>G (p.Tyr828Ter)
c.3462C>G (p.Tyr1154Ter)
n.3280C>G
n.3488C>G
1g.197435190C>TCA422809181CRB1c.3327C>T (p.Tyr1109=)
c.2208C>T (p.Tyr736=)
c.1470C>T (p.Tyr490=)
c.2991C>T (p.Tyr997=)
c.3255C>T (p.Tyr1085=)
c.2129-410C>T (n.2129-410C>T)
n.3328C>T
n.3536C>T
c.2745C>T (p.Tyr915=)
c.1770C>T (p.Tyr590=)
c.2484C>T (p.Tyr828=)
c.3462C>T (p.Tyr1154=)
n.3280C>T
n.3488C>T
 ClinVar
1g.197435191T>ACA344047089CRB1c.3328T>A (p.Phe1110Ile)
c.2209T>A (p.Phe737Ile)
c.1471T>A (p.Phe491Ile)
c.2992T>A (p.Phe998Ile)
c.3256T>A (p.Phe1086Ile)
c.2129-409T>A (n.2129-409T>A)
n.3329T>A
n.3537T>A
c.2746T>A (p.Phe916Ile)
c.1771T>A (p.Phe591Ile)
c.2485T>A (p.Phe829Ile)
c.3463T>A (p.Phe1155Ile)
n.3281T>A
n.3489T>A
1g.197435191T>CCA344047091CRB1c.3328T>C (p.Phe1110Leu)
c.2209T>C (p.Phe737Leu)
c.1471T>C (p.Phe491Leu)
c.2992T>C (p.Phe998Leu)
c.3256T>C (p.Phe1086Leu)
c.2129-409T>C (n.2129-409T>C)
n.3329T>C
n.3537T>C
c.2746T>C (p.Phe916Leu)
c.1771T>C (p.Phe591Leu)
c.2485T>C (p.Phe829Leu)
c.3463T>C (p.Phe1155Leu)
n.3281T>C
n.3489T>C
1g.197435191T>GCA344047093CRB1c.3328T>G (p.Phe1110Val)
c.2209T>G (p.Phe737Val)
c.1471T>G (p.Phe491Val)
c.2992T>G (p.Phe998Val)
c.3256T>G (p.Phe1086Val)
c.2129-409T>G (n.2129-409T>G)
n.3329T>G
n.3537T>G
c.2746T>G (p.Phe916Val)
c.1771T>G (p.Phe591Val)
c.2485T>G (p.Phe829Val)
c.3463T>G (p.Phe1155Val)
n.3281T>G
n.3489T>G
1g.197435192T>ACA344047107CRB1c.3329T>A (p.Phe1110Tyr)
c.2210T>A (p.Phe737Tyr)
c.1472T>A (p.Phe491Tyr)
c.2993T>A (p.Phe998Tyr)
c.3257T>A (p.Phe1086Tyr)
c.2129-408T>A (n.2129-408T>A)
n.3330T>A
n.3538T>A
c.2747T>A (p.Phe916Tyr)
c.1772T>A (p.Phe591Tyr)
c.2486T>A (p.Phe829Tyr)
c.3464T>A (p.Phe1155Tyr)
n.3282T>A
n.3490T>A
1g.197435192T>CCA344047102CRB1c.3329T>C (p.Phe1110Ser)
c.2210T>C (p.Phe737Ser)
c.1472T>C (p.Phe491Ser)
c.2993T>C (p.Phe998Ser)
c.3257T>C (p.Phe1086Ser)
c.2129-408T>C (n.2129-408T>C)
n.3330T>C
n.3538T>C
c.2747T>C (p.Phe916Ser)
c.1772T>C (p.Phe591Ser)
c.2486T>C (p.Phe829Ser)
c.3464T>C (p.Phe1155Ser)
n.3282T>C
n.3490T>C
1g.197435192T>GCA344047105CRB1c.3329T>G (p.Phe1110Cys)
c.2210T>G (p.Phe737Cys)
c.1472T>G (p.Phe491Cys)
c.2993T>G (p.Phe998Cys)
c.3257T>G (p.Phe1086Cys)
c.2129-408T>G (n.2129-408T>G)
n.3330T>G
n.3538T>G
c.2747T>G (p.Phe916Cys)
c.1772T>G (p.Phe591Cys)
c.2486T>G (p.Phe829Cys)
c.3464T>G (p.Phe1155Cys)
n.3282T>G
n.3490T>G
 ClinVar dbSNP gnomAD v4
1g.197435192T=CA1218068829CRB1c.3329T= (p.Phe1110=)
c.2210T= (p.Phe737=)
c.1472T= (p.Phe491=)
c.2993T= (p.Phe998=)
c.3257T= (p.Phe1086=)
c.2129-408T= (n.2129-408T=)
n.3330T=
n.3538T=
c.2747T= (p.Phe916=)
c.1772T= (p.Phe591=)
c.2486T= (p.Phe829=)
c.3464T= (p.Phe1155=)
n.3282T=
n.3490T=
1g.197435193T>ACA344047110CRB1c.3330T>A (p.Phe1110Leu)
c.2211T>A (p.Phe737Leu)
c.1473T>A (p.Phe491Leu)
c.2994T>A (p.Phe998Leu)
c.3258T>A (p.Phe1086Leu)
c.2129-407T>A (n.2129-407T>A)
n.3331T>A
n.3539T>A
c.2748T>A (p.Phe916Leu)
c.1773T>A (p.Phe591Leu)
c.2487T>A (p.Phe829Leu)
c.3465T>A (p.Phe1155Leu)
n.3283T>A
n.3491T>A
1g.197435193T>CCA422809183CRB1c.3330T>C (p.Phe1110=)
c.2211T>C (p.Phe737=)
c.1473T>C (p.Phe491=)
c.2994T>C (p.Phe998=)
c.3258T>C (p.Phe1086=)
c.2129-407T>C (n.2129-407T>C)
n.3331T>C
n.3539T>C
c.2748T>C (p.Phe916=)
c.1773T>C (p.Phe591=)
c.2487T>C (p.Phe829=)
c.3465T>C (p.Phe1155=)
n.3283T>C
n.3491T>C
1g.197435193T>GCA344047112CRB1c.3330T>G (p.Phe1110Leu)
c.2211T>G (p.Phe737Leu)
c.1473T>G (p.Phe491Leu)
c.2994T>G (p.Phe998Leu)
c.3258T>G (p.Phe1086Leu)
c.2129-407T>G (n.2129-407T>G)
n.3331T>G
n.3539T>G
c.2748T>G (p.Phe916Leu)
c.1773T>G (p.Phe591Leu)
c.2487T>G (p.Phe829Leu)
c.3465T>G (p.Phe1155Leu)
n.3283T>G
n.3491T>G
 dbSNP gnomAD v3 gnomAD v4
1g.197435193T=CA1218068830CRB1c.3330T= (p.Phe1110=)
c.2211T= (p.Phe737=)
c.1473T= (p.Phe491=)
c.2994T= (p.Phe998=)
c.3258T= (p.Phe1086=)
c.2129-407T= (n.2129-407T=)
n.3331T=
n.3539T=
c.2748T= (p.Phe916=)
c.1773T= (p.Phe591=)
c.2487T= (p.Phe829=)
c.3465T= (p.Phe1155=)
n.3283T=
n.3491T=
1g.197435194G>ACA344047115CRB1c.3331G>A (p.Glu1111Lys)
c.2212G>A (p.Glu738Lys)
c.1474G>A (p.Glu492Lys)
c.2995G>A (p.Glu999Lys)
c.3259G>A (p.Glu1087Lys)
c.2129-406G>A (n.2129-406G>A)
n.3332G>A
n.3540G>A
c.2749G>A (p.Glu917Lys)
c.1774G>A (p.Glu592Lys)
c.2488G>A (p.Glu830Lys)
c.3466G>A (p.Glu1156Lys)
n.3284G>A
n.3492G>A
1g.197435194G>CCA344047117CRB1c.3331G>C (p.Glu1111Gln)
c.2212G>C (p.Glu738Gln)
c.1474G>C (p.Glu492Gln)
c.2995G>C (p.Glu999Gln)
c.3259G>C (p.Glu1087Gln)
c.2129-406G>C (n.2129-406G>C)
n.3332G>C
n.3540G>C
c.2749G>C (p.Glu917Gln)
c.1774G>C (p.Glu592Gln)
c.2488G>C (p.Glu830Gln)
c.3466G>C (p.Glu1156Gln)
n.3284G>C
n.3492G>C
1g.197435194G=CA1140762966CRB1c.3331G= (p.Glu1111=)
c.2212G= (p.Glu738=)
c.1474G= (p.Glu492=)
c.2995G= (p.Glu999=)
c.3259G= (p.Glu1087=)
c.2129-406G= (n.2129-406G=)
n.3332G=
n.3540G=
c.2749G= (p.Glu917=)
c.1774G= (p.Glu592=)
c.2488G= (p.Glu830=)
c.3466G= (p.Glu1156=)
n.3284G=
n.3492G=
1g.197435194G>TCA228038CRB1c.3331G>T (p.Glu1111Ter)
c.2212G>T (p.Glu738Ter)
c.1474G>T (p.Glu492Ter)
c.2995G>T (p.Glu999Ter)
c.3259G>T (p.Glu1087Ter)
c.2129-406G>T (n.2129-406G>T)
n.3332G>T
n.3540G>T
c.2749G>T (p.Glu917Ter)
c.1774G>T (p.Glu592Ter)
c.2488G>T (p.Glu830Ter)
c.3466G>T (p.Glu1156Ter)
n.3284G>T
n.3492G>T
 ClinVar dbSNP
1g.197435195A>CCA344047125CRB1c.3332A>C (p.Glu1111Ala)
c.2213A>C (p.Glu738Ala)
c.1475A>C (p.Glu492Ala)
c.2996A>C (p.Glu999Ala)
c.3260A>C (p.Glu1087Ala)
c.2129-405A>C (n.2129-405A>C)
n.3333A>C
n.3541A>C
c.2750A>C (p.Glu917Ala)
c.1775A>C (p.Glu592Ala)
c.2489A>C (p.Glu830Ala)
c.3467A>C (p.Glu1156Ala)
n.3285A>C
n.3493A>C
1g.197435195A>GCA344047127CRB1c.3332A>G (p.Glu1111Gly)
c.2213A>G (p.Glu738Gly)
c.1475A>G (p.Glu492Gly)
c.2996A>G (p.Glu999Gly)
c.3260A>G (p.Glu1087Gly)
c.2129-405A>G (n.2129-405A>G)
n.3333A>G
n.3541A>G
c.2750A>G (p.Glu917Gly)
c.1775A>G (p.Glu592Gly)
c.2489A>G (p.Glu830Gly)
c.3467A>G (p.Glu1156Gly)
n.3285A>G
n.3493A>G
1g.197435195A>TCA344047129CRB1c.3332A>T (p.Glu1111Val)
c.2213A>T (p.Glu738Val)
c.1475A>T (p.Glu492Val)
c.2996A>T (p.Glu999Val)
c.3260A>T (p.Glu1087Val)
c.2129-405A>T (n.2129-405A>T)
n.3333A>T
n.3541A>T
c.2750A>T (p.Glu917Val)
c.1775A>T (p.Glu592Val)
c.2489A>T (p.Glu830Val)
c.3467A>T (p.Glu1156Val)
n.3285A>T
n.3493A>T
1g.197435196A>CCA344047130CRB1c.3333A>C (p.Glu1111Asp)
c.2214A>C (p.Glu738Asp)
c.1476A>C (p.Glu492Asp)
c.2997A>C (p.Glu999Asp)
c.3261A>C (p.Glu1087Asp)
c.2129-404A>C (n.2129-404A>C)
n.3334A>C
n.3542A>C
c.2751A>C (p.Glu917Asp)
c.1776A>C (p.Glu592Asp)
c.2490A>C (p.Glu830Asp)
c.3468A>C (p.Glu1156Asp)
n.3286A>C
n.3494A>C
 COSMIC COSMIC
1g.197435196A>GCA422809191CRB1c.3333A>G (p.Glu1111=)
c.2214A>G (p.Glu738=)
c.1476A>G (p.Glu492=)
c.2997A>G (p.Glu999=)
c.3261A>G (p.Glu1087=)
c.2129-404A>G (n.2129-404A>G)
n.3334A>G
n.3542A>G
c.2751A>G (p.Glu917=)
c.1776A>G (p.Glu592=)
c.2490A>G (p.Glu830=)
c.3468A>G (p.Glu1156=)
n.3286A>G
n.3494A>G
1g.197435196A>TCA344047132CRB1c.3333A>T (p.Glu1111Asp)
c.2214A>T (p.Glu738Asp)
c.1476A>T (p.Glu492Asp)
c.2997A>T (p.Glu999Asp)
c.3261A>T (p.Glu1087Asp)
c.2129-404A>T (n.2129-404A>T)
n.3334A>T
n.3542A>T
c.2751A>T (p.Glu917Asp)
c.1776A>T (p.Glu592Asp)
c.2490A>T (p.Glu830Asp)
c.3468A>T (p.Glu1156Asp)
n.3286A>T
n.3494A>T
1g.197435197A>CCA344047139CRB1c.3334A>C (p.Asn1112His)
c.2215A>C (p.Asn739His)
c.1477A>C (p.Asn493His)
c.2998A>C (p.Asn1000His)
c.3262A>C (p.Asn1088His)
c.2129-403A>C (n.2129-403A>C)
n.3335A>C
n.3543A>C
c.2752A>C (p.Asn918His)
c.1777A>C (p.Asn593His)
c.2491A>C (p.Asn831His)
c.3469A>C (p.Asn1157His)
n.3287A>C
n.3495A>C
1g.197435197A>GCA344047137CRB1c.3334A>G (p.Asn1112Asp)
c.2215A>G (p.Asn739Asp)
c.1477A>G (p.Asn493Asp)
c.2998A>G (p.Asn1000Asp)
c.3262A>G (p.Asn1088Asp)
c.2129-403A>G (n.2129-403A>G)
n.3335A>G
n.3543A>G
c.2752A>G (p.Asn918Asp)
c.1777A>G (p.Asn593Asp)
c.2491A>G (p.Asn831Asp)
c.3469A>G (p.Asn1157Asp)
n.3287A>G
n.3495A>G
1g.197435197A>TCA344047135CRB1c.3334A>T (p.Asn1112Tyr)
c.2215A>T (p.Asn739Tyr)
c.1477A>T (p.Asn493Tyr)
c.2998A>T (p.Asn1000Tyr)
c.3262A>T (p.Asn1088Tyr)
c.2129-403A>T (n.2129-403A>T)
n.3335A>T
n.3543A>T
c.2752A>T (p.Asn918Tyr)
c.1777A>T (p.Asn593Tyr)
c.2491A>T (p.Asn831Tyr)
c.3469A>T (p.Asn1157Tyr)
n.3287A>T
n.3495A>T
1g.197435198A>CCA344047141CRB1c.3335A>C (p.Asn1112Thr)
c.2216A>C (p.Asn739Thr)
c.1478A>C (p.Asn493Thr)
c.2999A>C (p.Asn1000Thr)
c.3263A>C (p.Asn1088Thr)
c.2129-402A>C (n.2129-402A>C)
n.3336A>C
n.3544A>C
c.2753A>C (p.Asn918Thr)
c.1778A>C (p.Asn593Thr)
c.2492A>C (p.Asn831Thr)
c.3470A>C (p.Asn1157Thr)
n.3288A>C
n.3496A>C
1g.197435198A>GCA344047150CRB1c.3335A>G (p.Asn1112Ser)
c.2216A>G (p.Asn739Ser)
c.1478A>G (p.Asn493Ser)
c.2999A>G (p.Asn1000Ser)
c.3263A>G (p.Asn1088Ser)
c.2129-402A>G (n.2129-402A>G)
n.3336A>G
n.3544A>G
c.2753A>G (p.Asn918Ser)
c.1778A>G (p.Asn593Ser)
c.2492A>G (p.Asn831Ser)
c.3470A>G (p.Asn1157Ser)
n.3288A>G
n.3496A>G
1g.197435198A>TCA344047152CRB1c.3335A>T (p.Asn1112Ile)
c.2216A>T (p.Asn739Ile)
c.1478A>T (p.Asn493Ile)
c.2999A>T (p.Asn1000Ile)
c.3263A>T (p.Asn1088Ile)
c.2129-402A>T (n.2129-402A>T)
n.3336A>T
n.3544A>T
c.2753A>T (p.Asn918Ile)
c.1778A>T (p.Asn593Ile)
c.2492A>T (p.Asn831Ile)
c.3470A>T (p.Asn1157Ile)
n.3288A>T
n.3496A>T
1g.197435199T>ACA344047162CRB1c.3336T>A (p.Asn1112Lys)
c.2217T>A (p.Asn739Lys)
c.1479T>A (p.Asn493Lys)
c.3000T>A (p.Asn1000Lys)
c.3264T>A (p.Asn1088Lys)
c.2129-401T>A (n.2129-401T>A)
n.3337T>A
n.3545T>A
c.2754T>A (p.Asn918Lys)
c.1779T>A (p.Asn593Lys)
c.2493T>A (p.Asn831Lys)
c.3471T>A (p.Asn1157Lys)
n.3289T>A
n.3497T>A
1g.197435199T>CCA422809200CRB1c.3336T>C (p.Asn1112=)
c.2217T>C (p.Asn739=)
c.1479T>C (p.Asn493=)
c.3000T>C (p.Asn1000=)
c.3264T>C (p.Asn1088=)
c.2129-401T>C (n.2129-401T>C)
n.3337T>C
n.3545T>C
c.2754T>C (p.Asn918=)
c.1779T>C (p.Asn593=)
c.2493T>C (p.Asn831=)
c.3471T>C (p.Asn1157=)
n.3289T>C
n.3497T>C
1g.197435199T>GCA344047163CRB1c.3336T>G (p.Asn1112Lys)
c.2217T>G (p.Asn739Lys)
c.1479T>G (p.Asn493Lys)
c.3000T>G (p.Asn1000Lys)
c.3264T>G (p.Asn1088Lys)
c.2129-401T>G (n.2129-401T>G)
n.3337T>G
n.3545T>G
c.2754T>G (p.Asn918Lys)
c.1779T>G (p.Asn593Lys)
c.2493T>G (p.Asn831Lys)
c.3471T>G (p.Asn1157Lys)
n.3289T>G
n.3497T>G
1g.197435200G>ACA344047167CRB1c.3337G>A (p.Val1113Ile)
c.2218G>A (p.Val740Ile)
c.1480G>A (p.Val494Ile)
c.3001G>A (p.Val1001Ile)
c.3265G>A (p.Val1089Ile)
c.2129-400G>A (n.2129-400G>A)
n.3338G>A
n.3546G>A
c.2755G>A (p.Val919Ile)
c.1780G>A (p.Val594Ile)
c.2494G>A (p.Val832Ile)
c.3472G>A (p.Val1158Ile)
n.3290G>A
n.3498G>A
 dbSNP gnomAD v2 gnomAD v4
1g.197435200G>CCA344047169CRB1c.3337G>C (p.Val1113Leu)
c.2218G>C (p.Val740Leu)
c.1480G>C (p.Val494Leu)
c.3001G>C (p.Val1001Leu)
c.3265G>C (p.Val1089Leu)
c.2129-400G>C (n.2129-400G>C)
n.3338G>C
n.3546G>C
c.2755G>C (p.Val919Leu)
c.1780G>C (p.Val594Leu)
c.2494G>C (p.Val832Leu)
c.3472G>C (p.Val1158Leu)
n.3290G>C
n.3498G>C
1g.197435200G=CA1218068831CRB1c.3337G= (p.Val1113=)
c.2218G= (p.Val740=)
c.1480G= (p.Val494=)
c.3001G= (p.Val1001=)
c.3265G= (p.Val1089=)
c.2129-400G= (n.2129-400G=)
n.3338G=
n.3546G=
c.2755G= (p.Val919=)
c.1780G= (p.Val594=)
c.2494G= (p.Val832=)
c.3472G= (p.Val1158=)
n.3290G=
n.3498G=
1g.197435200G>TCA344047170CRB1c.3337G>T (p.Val1113Phe)
c.2218G>T (p.Val740Phe)
c.1480G>T (p.Val494Phe)
c.3001G>T (p.Val1001Phe)
c.3265G>T (p.Val1089Phe)
c.2129-400G>T (n.2129-400G>T)
n.3338G>T
n.3546G>T
c.2755G>T (p.Val919Phe)
c.1780G>T (p.Val594Phe)
c.2494G>T (p.Val832Phe)
c.3472G>T (p.Val1158Phe)
n.3290G>T
n.3498G>T
1g.197435201T>ACA344047172CRB1c.3338T>A (p.Val1113Asp)
c.2219T>A (p.Val740Asp)
c.1481T>A (p.Val494Asp)
c.3002T>A (p.Val1001Asp)
c.3266T>A (p.Val1089Asp)
c.2129-399T>A (n.2129-399T>A)
n.3339T>A
n.3547T>A
c.2756T>A (p.Val919Asp)
c.1781T>A (p.Val594Asp)
c.2495T>A (p.Val832Asp)
c.3473T>A (p.Val1158Asp)
n.3291T>A
n.3499T>A
1g.197435201T>CCA344047174CRB1c.3338T>C (p.Val1113Ala)
c.2219T>C (p.Val740Ala)
c.1481T>C (p.Val494Ala)
c.3002T>C (p.Val1001Ala)
c.3266T>C (p.Val1089Ala)
c.2129-399T>C (n.2129-399T>C)
n.3339T>C
n.3547T>C
c.2756T>C (p.Val919Ala)
c.1781T>C (p.Val594Ala)
c.2495T>C (p.Val832Ala)
c.3473T>C (p.Val1158Ala)
n.3291T>C
n.3499T>C
1g.197435201T>GCA344047176CRB1c.3338T>G (p.Val1113Gly)
c.2219T>G (p.Val740Gly)
c.1481T>G (p.Val494Gly)
c.3002T>G (p.Val1001Gly)
c.3266T>G (p.Val1089Gly)
c.2129-399T>G (n.2129-399T>G)
n.3339T>G
n.3547T>G
c.2756T>G (p.Val919Gly)
c.1781T>G (p.Val594Gly)
c.2495T>G (p.Val832Gly)
c.3473T>G (p.Val1158Gly)
n.3291T>G
n.3499T>G
1g.197435202T>ACA422809203CRB1c.3339T>A (p.Val1113=)
c.2220T>A (p.Val740=)
c.1482T>A (p.Val494=)
c.3003T>A (p.Val1001=)
c.3267T>A (p.Val1089=)
c.2129-398T>A (n.2129-398T>A)
n.3340T>A
n.3548T>A
c.2757T>A (p.Val919=)
c.1782T>A (p.Val594=)
c.2496T>A (p.Val832=)
c.3474T>A (p.Val1158=)
n.3292T>A
n.3500T>A
1g.197435202T>CCA422809206CRB1c.3339T>C (p.Val1113=)
c.2220T>C (p.Val740=)
c.1482T>C (p.Val494=)
c.3003T>C (p.Val1001=)
c.3267T>C (p.Val1089=)
c.2129-398T>C (n.2129-398T>C)
n.3340T>C
n.3548T>C
c.2757T>C (p.Val919=)
c.1782T>C (p.Val594=)
c.2496T>C (p.Val832=)
c.3474T>C (p.Val1158=)
n.3292T>C
n.3500T>C
1g.197435202T>GCA422809207CRB1c.3339T>G (p.Val1113=)
c.2220T>G (p.Val740=)
c.1482T>G (p.Val494=)
c.3003T>G (p.Val1001=)
c.3267T>G (p.Val1089=)
c.2129-398T>G (n.2129-398T>G)
n.3340T>G
n.3548T>G
c.2757T>G (p.Val919=)
c.1782T>G (p.Val594=)
c.2496T>G (p.Val832=)
c.3474T>G (p.Val1158=)
n.3292T>G
n.3500T>G
1g.197435203C>ACA344047183CRB1c.3340C>A (p.His1114Asn)
c.2221C>A (p.His741Asn)
c.1483C>A (p.His495Asn)
c.3004C>A (p.His1002Asn)
c.3268C>A (p.His1090Asn)
c.2129-397C>A (n.2129-397C>A)
n.3341C>A
n.3549C>A
c.2758C>A (p.His920Asn)
c.1783C>A (p.His595Asn)
c.2497C>A (p.His833Asn)
c.3475C>A (p.His1159Asn)
n.3293C>A
n.3501C>A
 gnomAD v4
1g.197435203C>GCA344047181CRB1c.3340C>G (p.His1114Asp)
c.2221C>G (p.His741Asp)
c.1483C>G (p.His495Asp)
c.3004C>G (p.His1002Asp)
c.3268C>G (p.His1090Asp)
c.2129-397C>G (n.2129-397C>G)
n.3341C>G
n.3549C>G
c.2758C>G (p.His920Asp)
c.1783C>G (p.His595Asp)
c.2497C>G (p.His833Asp)
c.3475C>G (p.His1159Asp)
n.3293C>G
n.3501C>G
1g.197435203C>TCA344047179CRB1c.3340C>T (p.His1114Tyr)
c.2221C>T (p.His741Tyr)
c.1483C>T (p.His495Tyr)
c.3004C>T (p.His1002Tyr)
c.3268C>T (p.His1090Tyr)
c.2129-397C>T (n.2129-397C>T)
n.3341C>T
n.3549C>T
c.2758C>T (p.His920Tyr)
c.1783C>T (p.His595Tyr)
c.2497C>T (p.His833Tyr)
c.3475C>T (p.His1159Tyr)
n.3293C>T
n.3501C>T
 gnomAD v4
1g.197435204A=CA1218068832CRB1c.3341A= (p.His1114=)
c.2222A= (p.His741=)
c.1484A= (p.His495=)
c.3005A= (p.His1002=)
c.3269A= (p.His1090=)
c.2129-396A= (n.2129-396A=)
n.3342A=
n.3550A=
c.2759A= (p.His920=)
c.1784A= (p.His595=)
c.2498A= (p.His833=)
c.3476A= (p.His1159=)
n.3294A=
n.3502A=
1g.197435204A>CCA344047185CRB1c.3341A>C (p.His1114Pro)
c.2222A>C (p.His741Pro)
c.1484A>C (p.His495Pro)
c.3005A>C (p.His1002Pro)
c.3269A>C (p.His1090Pro)
c.2129-396A>C (n.2129-396A>C)
n.3342A>C
n.3550A>C
c.2759A>C (p.His920Pro)
c.1784A>C (p.His595Pro)
c.2498A>C (p.His833Pro)
c.3476A>C (p.His1159Pro)
n.3294A>C
n.3502A>C
1g.197435204A>GCA344047187CRB1c.3341A>G (p.His1114Arg)
c.2222A>G (p.His741Arg)
c.1484A>G (p.His495Arg)
c.3005A>G (p.His1002Arg)
c.3269A>G (p.His1090Arg)
c.2129-396A>G (n.2129-396A>G)
n.3342A>G
n.3550A>G
c.2759A>G (p.His920Arg)
c.1784A>G (p.His595Arg)
c.2498A>G (p.His833Arg)
c.3476A>G (p.His1159Arg)
n.3294A>G
n.3502A>G
 gnomAD v4
1g.197435204A>TCA344047188CRB1c.3341A>T (p.His1114Leu)
c.2222A>T (p.His741Leu)
c.1484A>T (p.His495Leu)
c.3005A>T (p.His1002Leu)
c.3269A>T (p.His1090Leu)
c.2129-396A>T (n.2129-396A>T)
n.3342A>T
n.3550A>T
c.2759A>T (p.His920Leu)
c.1784A>T (p.His595Leu)
c.2498A>T (p.His833Leu)
c.3476A>T (p.His1159Leu)
n.3294A>T
n.3502A>T
 dbSNP gnomAD v2 gnomAD v4
1g.197435205T>ACA344047190CRB1c.3342T>A (p.His1114Gln)
c.2223T>A (p.His741Gln)
c.1485T>A (p.His495Gln)
c.3006T>A (p.His1002Gln)
c.3270T>A (p.His1090Gln)
c.2129-395T>A (n.2129-395T>A)
n.3343T>A
n.3551T>A
c.2760T>A (p.His920Gln)
c.1785T>A (p.His595Gln)
c.2499T>A (p.His833Gln)
c.3477T>A (p.His1159Gln)
n.3295T>A
n.3503T>A
1g.197435205T>CCA422809211CRB1c.3342T>C (p.His1114=)
c.2223T>C (p.His741=)
c.1485T>C (p.His495=)
c.3006T>C (p.His1002=)
c.3270T>C (p.His1090=)
c.2129-395T>C (n.2129-395T>C)
n.3343T>C
n.3551T>C
c.2760T>C (p.His920=)
c.1785T>C (p.His595=)
c.2499T>C (p.His833=)
c.3477T>C (p.His1159=)
n.3295T>C
n.3503T>C
1g.197435205T>GCA344047192CRB1c.3342T>G (p.His1114Gln)
c.2223T>G (p.His741Gln)
c.1485T>G (p.His495Gln)
c.3006T>G (p.His1002Gln)
c.3270T>G (p.His1090Gln)
c.2129-395T>G (n.2129-395T>G)
n.3343T>G
n.3551T>G
c.2760T>G (p.His920Gln)
c.1785T>G (p.His595Gln)
c.2499T>G (p.His833Gln)
c.3477T>G (p.His1159Gln)
n.3295T>G
n.3503T>G
1g.197435206G>ACA344047195CRB1c.3343G>A (p.Gly1115Ser)
c.2224G>A (p.Gly742Ser)
c.1486G>A (p.Gly496Ser)
c.3007G>A (p.Gly1003Ser)
c.3271G>A (p.Gly1091Ser)
c.2129-394G>A (n.2129-394G>A)
n.3344G>A
n.3552G>A
c.2761G>A (p.Gly921Ser)
c.1786G>A (p.Gly596Ser)
c.2500G>A (p.Gly834Ser)
c.3478G>A (p.Gly1160Ser)
n.3296G>A
n.3504G>A
 gnomAD v4
1g.197435206G>CCA1312319CRB1c.3343G>C (p.Gly1115Arg)
c.2224G>C (p.Gly742Arg)
c.1486G>C (p.Gly496Arg)
c.3007G>C (p.Gly1003Arg)
c.3271G>C (p.Gly1091Arg)
c.2129-394G>C (n.2129-394G>C)
n.3344G>C
n.3552G>C
c.2761G>C (p.Gly921Arg)
c.1786G>C (p.Gly596Arg)
c.2500G>C (p.Gly834Arg)
c.3478G>C (p.Gly1160Arg)
n.3296G>C
n.3504G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435206G=CA1218068833CRB1c.3343G= (p.Gly1115=)
c.2224G= (p.Gly742=)
c.1486G= (p.Gly496=)
c.3007G= (p.Gly1003=)
c.3271G= (p.Gly1091=)
c.2129-394G= (n.2129-394G=)
n.3344G=
n.3552G=
c.2761G= (p.Gly921=)
c.1786G= (p.Gly596=)
c.2500G= (p.Gly834=)
c.3478G= (p.Gly1160=)
n.3296G=
n.3504G=
1g.197435206G>TCA1312318CRB1c.3343G>T (p.Gly1115Cys)
c.2224G>T (p.Gly742Cys)
c.1486G>T (p.Gly496Cys)
c.3007G>T (p.Gly1003Cys)
c.3271G>T (p.Gly1091Cys)
c.2129-394G>T (n.2129-394G>T)
n.3344G>T
n.3552G>T
c.2761G>T (p.Gly921Cys)
c.1786G>T (p.Gly596Cys)
c.2500G>T (p.Gly834Cys)
c.3478G>T (p.Gly1160Cys)
n.3296G>T
n.3504G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435206_197435215delCA2586967866CRB1c.3343_3352del (p.Gly1115IlefsTer23)
c.2224_2233del (p.Gly742IlefsTer23)
c.1486_1495del (p.Gly496IlefsTer23)
c.3007_3016del (p.Gly1003IlefsTer23)
c.3271_3280del (p.Gly1091IlefsTer23)
c.2129-394_2129-385del (n.2129-394_2129-385del)
n.3344_3353del
n.3552_3561del
c.2761_2770del (p.Gly921IlefsTer23)
c.1786_1795del (p.Gly596IlefsTer23)
c.2500_2509del (p.Gly834IlefsTer23)
c.3478_3487del (p.Gly1160IlefsTer23)
n.3296_3305del
n.3504_3513del
 ClinVar
1g.197435207G>ACA344047203CRB1c.3344G>A (p.Gly1115Asp)
c.2225G>A (p.Gly742Asp)
c.1487G>A (p.Gly496Asp)
c.3008G>A (p.Gly1003Asp)
c.3272G>A (p.Gly1091Asp)
c.2129-393G>A (n.2129-393G>A)
n.3345G>A
n.3553G>A
c.2762G>A (p.Gly921Asp)
c.1787G>A (p.Gly596Asp)
c.2501G>A (p.Gly834Asp)
c.3479G>A (p.Gly1160Asp)
n.3297G>A
n.3505G>A
 gnomAD v4
1g.197435207G>CCA344047205CRB1c.3344G>C (p.Gly1115Ala)
c.2225G>C (p.Gly742Ala)
c.1487G>C (p.Gly496Ala)
c.3008G>C (p.Gly1003Ala)
c.3272G>C (p.Gly1091Ala)
c.2129-393G>C (n.2129-393G>C)
n.3345G>C
n.3553G>C
c.2762G>C (p.Gly921Ala)
c.1787G>C (p.Gly596Ala)
c.2501G>C (p.Gly834Ala)
c.3479G>C (p.Gly1160Ala)
n.3297G>C
n.3505G>C
1g.197435207G>TCA344047207CRB1c.3344G>T (p.Gly1115Val)
c.2225G>T (p.Gly742Val)
c.1487G>T (p.Gly496Val)
c.3008G>T (p.Gly1003Val)
c.3272G>T (p.Gly1091Val)
c.2129-393G>T (n.2129-393G>T)
n.3345G>T
n.3553G>T
c.2762G>T (p.Gly921Val)
c.1787G>T (p.Gly596Val)
c.2501G>T (p.Gly834Val)
c.3479G>T (p.Gly1160Val)
n.3297G>T
n.3505G>T
1g.197435207_197435208delinsGTCA1218068834CRB1c.3344_3345delinsGT (p.Gly1115=)
c.2225_2226delinsGT (p.Gly742=)
c.1487_1488delinsGT (p.Gly496=)
c.3008_3009delinsGT (p.Gly1003=)
c.3272_3273delinsGT (p.Gly1091=)
c.2129-393_2129-392delinsGT (n.2129-393_2129-392delinsGT)
n.3345_3346delinsGT
n.3553_3554delinsGT
c.2762_2763delinsGT (p.Gly921=)
c.1787_1788delinsGT (p.Gly596=)
c.2501_2502delinsGT (p.Gly834=)
c.3479_3480delinsGT (p.Gly1160=)
n.3297_3298delinsGT
n.3505_3506delinsGT
1g.197435208T>ACA422809218CRB1c.3345T>A (p.Gly1115=)
c.2226T>A (p.Gly742=)
c.1488T>A (p.Gly496=)
c.3009T>A (p.Gly1003=)
c.3273T>A (p.Gly1091=)
c.2129-392T>A (n.2129-392T>A)
n.3346T>A
n.3554T>A
c.2763T>A (p.Gly921=)
c.1788T>A (p.Gly596=)
c.2502T>A (p.Gly834=)
c.3480T>A (p.Gly1160=)
n.3298T>A
n.3506T>A
1g.197435208T>CCA422809219CRB1c.3345T>C (p.Gly1115=)
c.2226T>C (p.Gly742=)
c.1488T>C (p.Gly496=)
c.3009T>C (p.Gly1003=)
c.3273T>C (p.Gly1091=)
c.2129-392T>C (n.2129-392T>C)
n.3346T>C
n.3554T>C
c.2763T>C (p.Gly921=)
c.1788T>C (p.Gly596=)
c.2502T>C (p.Gly834=)
c.3480T>C (p.Gly1160=)
n.3298T>C
n.3506T>C
 ClinVar dbSNP
1g.197435208T>GCA422809217CRB1c.3345T>G (p.Gly1115=)
c.2226T>G (p.Gly742=)
c.1488T>G (p.Gly496=)
c.3009T>G (p.Gly1003=)
c.3273T>G (p.Gly1091=)
c.2129-392T>G (n.2129-392T>G)
n.3346T>G
n.3554T>G
c.2763T>G (p.Gly921=)
c.1788T>G (p.Gly596=)
c.2502T>G (p.Gly834=)
c.3480T>G (p.Gly1160=)
n.3298T>G
n.3506T>G
1g.197435208T=CA1218068835CRB1c.3345T= (p.Gly1115=)
c.2226T= (p.Gly742=)
c.1488T= (p.Gly496=)
c.3009T= (p.Gly1003=)
c.3273T= (p.Gly1091=)
c.2129-392T= (n.2129-392T=)
n.3346T=
n.3554T=
c.2763T= (p.Gly921=)
c.1788T= (p.Gly596=)
c.2502T= (p.Gly834=)
c.3480T= (p.Gly1160=)
n.3298T=
n.3506T=
1g.197435208_197435210delinsTTTCA1140762967CRB1c.3345_3347delinsTTT (p.Gly1115=)
c.2226_2228delinsTTT (p.Gly742=)
c.1488_1490delinsTTT (p.Gly496=)
c.3009_3011delinsTTT (p.Gly1003=)
c.3273_3275delinsTTT (p.Gly1091=)
c.2129-392_2129-390delinsTTT (n.2129-392_2129-390delinsTTT)
n.3346_3348delinsTTT
n.3554_3556delinsTTT
c.2763_2765delinsTTT (p.Gly921=)
c.1788_1790delinsTTT (p.Gly596=)
c.2502_2504delinsTTT (p.Gly834=)
c.3480_3482delinsTTT (p.Gly1160=)
n.3298_3300delinsTTT
n.3506_3508delinsTTT
1g.197435210delCA228040CRB1c.3347del (p.Phe1116SerfsTer25)
c.2228del (p.Phe743SerfsTer25)
c.1490del (p.Phe497SerfsTer25)
c.3011del (p.Phe1004SerfsTer25)
c.3275del (p.Phe1092SerfsTer25)
c.2129-390del (n.2129-390del)
n.3348del
n.3556del
c.2765del (p.Phe922SerfsTer25)
c.1790del (p.Phe597SerfsTer25)
c.2504del (p.Phe835SerfsTer25)
c.3482del (p.Phe1161SerfsTer25)
n.3300del
n.3508del
 ClinVar dbSNP
1g.197435209T>ACA344047217CRB1c.3346T>A (p.Phe1116Ile)
c.2227T>A (p.Phe743Ile)
c.1489T>A (p.Phe497Ile)
c.3010T>A (p.Phe1004Ile)
c.3274T>A (p.Phe1092Ile)
c.2129-391T>A (n.2129-391T>A)
n.3347T>A
n.3555T>A
c.2764T>A (p.Phe922Ile)
c.1789T>A (p.Phe597Ile)
c.2503T>A (p.Phe835Ile)
c.3481T>A (p.Phe1161Ile)
n.3299T>A
n.3507T>A
1g.197435209T>CCA344047215CRB1c.3346T>C (p.Phe1116Leu)
c.2227T>C (p.Phe743Leu)
c.1489T>C (p.Phe497Leu)
c.3010T>C (p.Phe1004Leu)
c.3274T>C (p.Phe1092Leu)
c.2129-391T>C (n.2129-391T>C)
n.3347T>C
n.3555T>C
c.2764T>C (p.Phe922Leu)
c.1789T>C (p.Phe597Leu)
c.2503T>C (p.Phe835Leu)
c.3481T>C (p.Phe1161Leu)
n.3299T>C
n.3507T>C
1g.197435209T>GCA344047213CRB1c.3346T>G (p.Phe1116Val)
c.2227T>G (p.Phe743Val)
c.1489T>G (p.Phe497Val)
c.3010T>G (p.Phe1004Val)
c.3274T>G (p.Phe1092Val)
c.2129-391T>G (n.2129-391T>G)
n.3347T>G
n.3555T>G
c.2764T>G (p.Phe922Val)
c.1789T>G (p.Phe597Val)
c.2503T>G (p.Phe835Val)
c.3481T>G (p.Phe1161Val)
n.3299T>G
n.3507T>G
1g.197435210T>ACA344047221CRB1c.3347T>A (p.Phe1116Tyr)
c.2228T>A (p.Phe743Tyr)
c.1490T>A (p.Phe497Tyr)
c.3011T>A (p.Phe1004Tyr)
c.3275T>A (p.Phe1092Tyr)
c.2129-390T>A (n.2129-390T>A)
n.3348T>A
n.3556T>A
c.2765T>A (p.Phe922Tyr)
c.1790T>A (p.Phe597Tyr)
c.2504T>A (p.Phe835Tyr)
c.3482T>A (p.Phe1161Tyr)
n.3300T>A
n.3508T>A
1g.197435210T>CCA344047224CRB1c.3347T>C (p.Phe1116Ser)
c.2228T>C (p.Phe743Ser)
c.1490T>C (p.Phe497Ser)
c.3011T>C (p.Phe1004Ser)
c.3275T>C (p.Phe1092Ser)
c.2129-390T>C (n.2129-390T>C)
n.3348T>C
n.3556T>C
c.2765T>C (p.Phe922Ser)
c.1790T>C (p.Phe597Ser)
c.2504T>C (p.Phe835Ser)
c.3482T>C (p.Phe1161Ser)
n.3300T>C
n.3508T>C
1g.197435210T>GCA344047222CRB1c.3347T>G (p.Phe1116Cys)
c.2228T>G (p.Phe743Cys)
c.1490T>G (p.Phe497Cys)
c.3011T>G (p.Phe1004Cys)
c.3275T>G (p.Phe1092Cys)
c.2129-390T>G (n.2129-390T>G)
n.3348T>G
n.3556T>G
c.2765T>G (p.Phe922Cys)
c.1790T>G (p.Phe597Cys)
c.2504T>G (p.Phe835Cys)
c.3482T>G (p.Phe1161Cys)
n.3300T>G
n.3508T>G
1g.197435211C>ACA344047227CRB1c.3348C>A (p.Phe1116Leu)
c.2229C>A (p.Phe743Leu)
c.1491C>A (p.Phe497Leu)
c.3012C>A (p.Phe1004Leu)
c.3276C>A (p.Phe1092Leu)
c.2129-389C>A (n.2129-389C>A)
n.3349C>A
n.3557C>A
c.2766C>A (p.Phe922Leu)
c.1791C>A (p.Phe597Leu)
c.2505C>A (p.Phe835Leu)
c.3483C>A (p.Phe1161Leu)
n.3301C>A
n.3509C>A
1g.197435211C>GCA344047229CRB1c.3348C>G (p.Phe1116Leu)
c.2229C>G (p.Phe743Leu)
c.1491C>G (p.Phe497Leu)
c.3012C>G (p.Phe1004Leu)
c.3276C>G (p.Phe1092Leu)
c.2129-389C>G (n.2129-389C>G)
n.3349C>G
n.3557C>G
c.2766C>G (p.Phe922Leu)
c.1791C>G (p.Phe597Leu)
c.2505C>G (p.Phe835Leu)
c.3483C>G (p.Phe1161Leu)
n.3301C>G
n.3509C>G
1g.197435211C>TCA422809222CRB1c.3348C>T (p.Phe1116=)
c.2229C>T (p.Phe743=)
c.1491C>T (p.Phe497=)
c.3012C>T (p.Phe1004=)
c.3276C>T (p.Phe1092=)
c.2129-389C>T (n.2129-389C>T)
n.3349C>T
n.3557C>T
c.2766C>T (p.Phe922=)
c.1791C>T (p.Phe597=)
c.2505C>T (p.Phe835=)
c.3483C>T (p.Phe1161=)
n.3301C>T
n.3509C>T
 ClinVar gnomAD v4 COSMIC
1g.197435212A=CA1218068836CRB1c.3349A= (p.Ile1117=)
c.2230A= (p.Ile744=)
c.1492A= (p.Ile498=)
c.3013A= (p.Ile1005=)
c.3277A= (p.Ile1093=)
c.2129-388A= (n.2129-388A=)
n.3350A=
n.3558A=
c.2767A= (p.Ile923=)
c.1792A= (p.Ile598=)
c.2506A= (p.Ile836=)
c.3484A= (p.Ile1162=)
n.3302A=
n.3510A=
1g.197435212A>CCA344047232CRB1c.3349A>C (p.Ile1117Leu)
c.2230A>C (p.Ile744Leu)
c.1492A>C (p.Ile498Leu)
c.3013A>C (p.Ile1005Leu)
c.3277A>C (p.Ile1093Leu)
c.2129-388A>C (n.2129-388A>C)
n.3350A>C
n.3558A>C
c.2767A>C (p.Ile923Leu)
c.1792A>C (p.Ile598Leu)
c.2506A>C (p.Ile836Leu)
c.3484A>C (p.Ile1162Leu)
n.3302A>C
n.3510A>C
1g.197435212A>GCA344047233CRB1c.3349A>G (p.Ile1117Val)
c.2230A>G (p.Ile744Val)
c.1492A>G (p.Ile498Val)
c.3013A>G (p.Ile1005Val)
c.3277A>G (p.Ile1093Val)
c.2129-388A>G (n.2129-388A>G)
n.3350A>G
n.3558A>G
c.2767A>G (p.Ile923Val)
c.1792A>G (p.Ile598Val)
c.2506A>G (p.Ile836Val)
c.3484A>G (p.Ile1162Val)
n.3302A>G
n.3510A>G
 dbSNP
1g.197435212A>TCA344047234CRB1c.3349A>T (p.Ile1117Phe)
c.2230A>T (p.Ile744Phe)
c.1492A>T (p.Ile498Phe)
c.3013A>T (p.Ile1005Phe)
c.3277A>T (p.Ile1093Phe)
c.2129-388A>T (n.2129-388A>T)
n.3350A>T
n.3558A>T
c.2767A>T (p.Ile923Phe)
c.1792A>T (p.Ile598Phe)
c.2506A>T (p.Ile836Phe)
c.3484A>T (p.Ile1162Phe)
n.3302A>T
n.3510A>T
1g.197435213T>ACA344047235CRB1c.3350T>A (p.Ile1117Asn)
c.2231T>A (p.Ile744Asn)
c.1493T>A (p.Ile498Asn)
c.3014T>A (p.Ile1005Asn)
c.3278T>A (p.Ile1093Asn)
c.2129-387T>A (n.2129-387T>A)
n.3351T>A
n.3559T>A
c.2768T>A (p.Ile923Asn)
c.1793T>A (p.Ile598Asn)
c.2507T>A (p.Ile836Asn)
c.3485T>A (p.Ile1162Asn)
n.3303T>A
n.3511T>A
1g.197435213T>CCA344047236CRB1c.3350T>C (p.Ile1117Thr)
c.2231T>C (p.Ile744Thr)
c.1493T>C (p.Ile498Thr)
c.3014T>C (p.Ile1005Thr)
c.3278T>C (p.Ile1093Thr)
c.2129-387T>C (n.2129-387T>C)
n.3351T>C
n.3559T>C
c.2768T>C (p.Ile923Thr)
c.1793T>C (p.Ile598Thr)
c.2507T>C (p.Ile836Thr)
c.3485T>C (p.Ile1162Thr)
n.3303T>C
n.3511T>C
1g.197435213T>GCA344047237CRB1c.3350T>G (p.Ile1117Ser)
c.2231T>G (p.Ile744Ser)
c.1493T>G (p.Ile498Ser)
c.3014T>G (p.Ile1005Ser)
c.3278T>G (p.Ile1093Ser)
c.2129-387T>G (n.2129-387T>G)
n.3351T>G
n.3559T>G
c.2768T>G (p.Ile923Ser)
c.1793T>G (p.Ile598Ser)
c.2507T>G (p.Ile836Ser)
c.3485T>G (p.Ile1162Ser)
n.3303T>G
n.3511T>G
1g.197435214T>ACA422809227CRB1c.3351T>A (p.Ile1117=)
c.2232T>A (p.Ile744=)
c.1494T>A (p.Ile498=)
c.3015T>A (p.Ile1005=)
c.3279T>A (p.Ile1093=)
c.2129-386T>A (n.2129-386T>A)
n.3352T>A
n.3560T>A
c.2769T>A (p.Ile923=)
c.1794T>A (p.Ile598=)
c.2508T>A (p.Ile836=)
c.3486T>A (p.Ile1162=)
n.3304T>A
n.3512T>A
1g.197435214T>CCA422809228CRB1c.3351T>C (p.Ile1117=)
c.2232T>C (p.Ile744=)
c.1494T>C (p.Ile498=)
c.3015T>C (p.Ile1005=)
c.3279T>C (p.Ile1093=)
c.2129-386T>C (n.2129-386T>C)
n.3352T>C
n.3560T>C
c.2769T>C (p.Ile923=)
c.1794T>C (p.Ile598=)
c.2508T>C (p.Ile836=)
c.3486T>C (p.Ile1162=)
n.3304T>C
n.3512T>C
1g.197435214T>GCA344047238CRB1c.3351T>G (p.Ile1117Met)
c.2232T>G (p.Ile744Met)
c.1494T>G (p.Ile498Met)
c.3015T>G (p.Ile1005Met)
c.3279T>G (p.Ile1093Met)
c.2129-386T>G (n.2129-386T>G)
n.3352T>G
n.3560T>G
c.2769T>G (p.Ile923Met)
c.1794T>G (p.Ile598Met)
c.2508T>G (p.Ile836Met)
c.3486T>G (p.Ile1162Met)
n.3304T>G
n.3512T>G
1g.197435215A>CCA344047240CRB1c.3352A>C (p.Asn1118His)
c.2233A>C (p.Asn745His)
c.1495A>C (p.Asn499His)
c.3016A>C (p.Asn1006His)
c.3280A>C (p.Asn1094His)
c.2129-385A>C (n.2129-385A>C)
n.3353A>C
n.3561A>C
c.2770A>C (p.Asn924His)
c.1795A>C (p.Asn599His)
c.2509A>C (p.Asn837His)
c.3487A>C (p.Asn1163His)
n.3305A>C
n.3513A>C
1g.197435215A>GCA344047243CRB1c.3352A>G (p.Asn1118Asp)
c.2233A>G (p.Asn745Asp)
c.1495A>G (p.Asn499Asp)
c.3016A>G (p.Asn1006Asp)
c.3280A>G (p.Asn1094Asp)
c.2129-385A>G (n.2129-385A>G)
n.3353A>G
n.3561A>G
c.2770A>G (p.Asn924Asp)
c.1795A>G (p.Asn599Asp)
c.2509A>G (p.Asn837Asp)
c.3487A>G (p.Asn1163Asp)
n.3305A>G
n.3513A>G
1g.197435215A>TCA344047245CRB1c.3352A>T (p.Asn1118Tyr)
c.2233A>T (p.Asn745Tyr)
c.1495A>T (p.Asn499Tyr)
c.3016A>T (p.Asn1006Tyr)
c.3280A>T (p.Asn1094Tyr)
c.2129-385A>T (n.2129-385A>T)
n.3353A>T
n.3561A>T
c.2770A>T (p.Asn924Tyr)
c.1795A>T (p.Asn599Tyr)
c.2509A>T (p.Asn837Tyr)
c.3487A>T (p.Asn1163Tyr)
n.3305A>T
n.3513A>T
1g.197435216A>CCA344047251CRB1c.3353A>C (p.Asn1118Thr)
c.2234A>C (p.Asn745Thr)
c.1496A>C (p.Asn499Thr)
c.3017A>C (p.Asn1006Thr)
c.3281A>C (p.Asn1094Thr)
c.2129-384A>C (n.2129-384A>C)
n.3354A>C
n.3562A>C
c.2771A>C (p.Asn924Thr)
c.1796A>C (p.Asn599Thr)
c.2510A>C (p.Asn837Thr)
c.3488A>C (p.Asn1163Thr)
n.3306A>C
n.3514A>C
1g.197435216A>GCA344047248CRB1c.3353A>G (p.Asn1118Ser)
c.2234A>G (p.Asn745Ser)
c.1496A>G (p.Asn499Ser)
c.3017A>G (p.Asn1006Ser)
c.3281A>G (p.Asn1094Ser)
c.2129-384A>G (n.2129-384A>G)
n.3354A>G
n.3562A>G
c.2771A>G (p.Asn924Ser)
c.1796A>G (p.Asn599Ser)
c.2510A>G (p.Asn837Ser)
c.3488A>G (p.Asn1163Ser)
n.3306A>G
n.3514A>G
1g.197435216A>TCA344047249CRB1c.3353A>T (p.Asn1118Ile)
c.2234A>T (p.Asn745Ile)
c.1496A>T (p.Asn499Ile)
c.3017A>T (p.Asn1006Ile)
c.3281A>T (p.Asn1094Ile)
c.2129-384A>T (n.2129-384A>T)
n.3354A>T
n.3562A>T
c.2771A>T (p.Asn924Ile)
c.1796A>T (p.Asn599Ile)
c.2510A>T (p.Asn837Ile)
c.3488A>T (p.Asn1163Ile)
n.3306A>T
n.3514A>T
1g.197435217T>ACA344047256CRB1c.3354T>A (p.Asn1118Lys)
c.2235T>A (p.Asn745Lys)
c.1497T>A (p.Asn499Lys)
c.3018T>A (p.Asn1006Lys)
c.3282T>A (p.Asn1094Lys)
c.2129-383T>A (n.2129-383T>A)
n.3355T>A
n.3563T>A
c.2772T>A (p.Asn924Lys)
c.1797T>A (p.Asn599Lys)
c.2511T>A (p.Asn837Lys)
c.3489T>A (p.Asn1163Lys)
n.3307T>A
n.3515T>A
 gnomAD v4
1g.197435217T>CCA422809234CRB1c.3354T>C (p.Asn1118=)
c.2235T>C (p.Asn745=)
c.1497T>C (p.Asn499=)
c.3018T>C (p.Asn1006=)
c.3282T>C (p.Asn1094=)
c.2129-383T>C (n.2129-383T>C)
n.3355T>C
n.3563T>C
c.2772T>C (p.Asn924=)
c.1797T>C (p.Asn599=)
c.2511T>C (p.Asn837=)
c.3489T>C (p.Asn1163=)
n.3307T>C
n.3515T>C
 gnomAD v4
1g.197435217T>GCA344047260CRB1c.3354T>G (p.Asn1118Lys)
c.2235T>G (p.Asn745Lys)
c.1497T>G (p.Asn499Lys)
c.3018T>G (p.Asn1006Lys)
c.3282T>G (p.Asn1094Lys)
c.2129-383T>G (n.2129-383T>G)
n.3355T>G
n.3563T>G
c.2772T>G (p.Asn924Lys)
c.1797T>G (p.Asn599Lys)
c.2511T>G (p.Asn837Lys)
c.3489T>G (p.Asn1163Lys)
n.3307T>G
n.3515T>G
1g.197435218A=CA1218068837CRB1c.3355A= (p.Lys1119=)
c.2236A= (p.Lys746=)
c.1498A= (p.Lys500=)
c.3019A= (p.Lys1007=)
c.3283A= (p.Lys1095=)
c.2129-382A= (n.2129-382A=)
n.3356A=
n.3564A=
c.2773A= (p.Lys925=)
c.1798A= (p.Lys600=)
c.2512A= (p.Lys838=)
c.3490A= (p.Lys1164=)
n.3308A=
n.3516A=
1g.197435218A>CCA344047264CRB1c.3355A>C (p.Lys1119Gln)
c.2236A>C (p.Lys746Gln)
c.1498A>C (p.Lys500Gln)
c.3019A>C (p.Lys1007Gln)
c.3283A>C (p.Lys1095Gln)
c.2129-382A>C (n.2129-382A>C)
n.3356A>C
n.3564A>C
c.2773A>C (p.Lys925Gln)
c.1798A>C (p.Lys600Gln)
c.2512A>C (p.Lys838Gln)
c.3490A>C (p.Lys1164Gln)
n.3308A>C
n.3516A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197435218A>GCA344047272CRB1c.3355A>G (p.Lys1119Glu)
c.2236A>G (p.Lys746Glu)
c.1498A>G (p.Lys500Glu)
c.3019A>G (p.Lys1007Glu)
c.3283A>G (p.Lys1095Glu)
c.2129-382A>G (n.2129-382A>G)
n.3356A>G
n.3564A>G
c.2773A>G (p.Lys925Glu)
c.1798A>G (p.Lys600Glu)
c.2512A>G (p.Lys838Glu)
c.3490A>G (p.Lys1164Glu)
n.3308A>G
n.3516A>G
1g.197435218A>TCA344047275CRB1c.3355A>T (p.Lys1119Ter)
c.2236A>T (p.Lys746Ter)
c.1498A>T (p.Lys500Ter)
c.3019A>T (p.Lys1007Ter)
c.3283A>T (p.Lys1095Ter)
c.2129-382A>T (n.2129-382A>T)
n.3356A>T
n.3564A>T
c.2773A>T (p.Lys925Ter)
c.1798A>T (p.Lys600Ter)
c.2512A>T (p.Lys838Ter)
c.3490A>T (p.Lys1164Ter)
n.3308A>T
n.3516A>T
1g.197435219A=CA1218068838CRB1c.3356A= (p.Lys1119=)
c.2237A= (p.Lys746=)
c.1499A= (p.Lys500=)
c.3020A= (p.Lys1007=)
c.3284A= (p.Lys1095=)
c.2129-381A= (n.2129-381A=)
n.3357A=
n.3565A=
c.2774A= (p.Lys925=)
c.1799A= (p.Lys600=)
c.2513A= (p.Lys838=)
c.3491A= (p.Lys1164=)
n.3309A=
n.3517A=
1g.197435219A>CCA344047279CRB1c.3356A>C (p.Lys1119Thr)
c.2237A>C (p.Lys746Thr)
c.1499A>C (p.Lys500Thr)
c.3020A>C (p.Lys1007Thr)
c.3284A>C (p.Lys1095Thr)
c.2129-381A>C (n.2129-381A>C)
n.3357A>C
n.3565A>C
c.2774A>C (p.Lys925Thr)
c.1799A>C (p.Lys600Thr)
c.2513A>C (p.Lys838Thr)
c.3491A>C (p.Lys1164Thr)
n.3309A>C
n.3517A>C
 dbSNP
1g.197435219A>GCA344047282CRB1c.3356A>G (p.Lys1119Arg)
c.2237A>G (p.Lys746Arg)
c.1499A>G (p.Lys500Arg)
c.3020A>G (p.Lys1007Arg)
c.3284A>G (p.Lys1095Arg)
c.2129-381A>G (n.2129-381A>G)
n.3357A>G
n.3565A>G
c.2774A>G (p.Lys925Arg)
c.1799A>G (p.Lys600Arg)
c.2513A>G (p.Lys838Arg)
c.3491A>G (p.Lys1164Arg)
n.3309A>G
n.3517A>G
 gnomAD v4
1g.197435219A>TCA344047290CRB1c.3356A>T (p.Lys1119Ile)
c.2237A>T (p.Lys746Ile)
c.1499A>T (p.Lys500Ile)
c.3020A>T (p.Lys1007Ile)
c.3284A>T (p.Lys1095Ile)
c.2129-381A>T (n.2129-381A>T)
n.3357A>T
n.3565A>T
c.2774A>T (p.Lys925Ile)
c.1799A>T (p.Lys600Ile)
c.2513A>T (p.Lys838Ile)
c.3491A>T (p.Lys1164Ile)
n.3309A>T
n.3517A>T
1g.197435220A=CA1218068839CRB1c.3357A= (p.Lys1119=)
c.2238A= (p.Lys746=)
c.1500A= (p.Lys500=)
c.3021A= (p.Lys1007=)
c.3285A= (p.Lys1095=)
c.2129-380A= (n.2129-380A=)
n.3358A=
n.3566A=
c.2775A= (p.Lys925=)
c.1800A= (p.Lys600=)
c.2514A= (p.Lys838=)
c.3492A= (p.Lys1164=)
n.3310A=
n.3518A=
1g.197435220A>CCA344047294CRB1c.3357A>C (p.Lys1119Asn)
c.2238A>C (p.Lys746Asn)
c.1500A>C (p.Lys500Asn)
c.3021A>C (p.Lys1007Asn)
c.3285A>C (p.Lys1095Asn)
c.2129-380A>C (n.2129-380A>C)
n.3358A>C
n.3566A>C
c.2775A>C (p.Lys925Asn)
c.1800A>C (p.Lys600Asn)
c.2514A>C (p.Lys838Asn)
c.3492A>C (p.Lys1164Asn)
n.3310A>C
n.3518A>C
1g.197435220A>GCA422809236CRB1c.3357A>G (p.Lys1119=)
c.2238A>G (p.Lys746=)
c.1500A>G (p.Lys500=)
c.3021A>G (p.Lys1007=)
c.3285A>G (p.Lys1095=)
c.2129-380A>G (n.2129-380A>G)
n.3358A>G
n.3566A>G
c.2775A>G (p.Lys925=)
c.1800A>G (p.Lys600=)
c.2514A>G (p.Lys838=)
c.3492A>G (p.Lys1164=)
n.3310A>G
n.3518A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.197435220A>TCA344047297CRB1c.3357A>T (p.Lys1119Asn)
c.2238A>T (p.Lys746Asn)
c.1500A>T (p.Lys500Asn)
c.3021A>T (p.Lys1007Asn)
c.3285A>T (p.Lys1095Asn)
c.2129-380A>T (n.2129-380A>T)
n.3358A>T
n.3566A>T
c.2775A>T (p.Lys925Asn)
c.1800A>T (p.Lys600Asn)
c.2514A>T (p.Lys838Asn)
c.3492A>T (p.Lys1164Asn)
n.3310A>T
n.3518A>T
1g.197435221C>ACA344047307CRB1c.3358C>A (p.Pro1120Thr)
c.2239C>A (p.Pro747Thr)
c.1501C>A (p.Pro501Thr)
c.3022C>A (p.Pro1008Thr)
c.3286C>A (p.Pro1096Thr)
c.2129-379C>A (n.2129-379C>A)
n.3359C>A
n.3567C>A
c.2776C>A (p.Pro926Thr)
c.1801C>A (p.Pro601Thr)
c.2515C>A (p.Pro839Thr)
c.3493C>A (p.Pro1165Thr)
n.3311C>A
n.3519C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197435221C=CA1218068840CRB1c.3358C= (p.Pro1120=)
c.2239C= (p.Pro747=)
c.1501C= (p.Pro501=)
c.3022C= (p.Pro1008=)
c.3286C= (p.Pro1096=)
c.2129-379C= (n.2129-379C=)
n.3359C=
n.3567C=
c.2776C= (p.Pro926=)
c.1801C= (p.Pro601=)
c.2515C= (p.Pro839=)
c.3493C= (p.Pro1165=)
n.3311C=
n.3519C=
1g.197435221C>GCA344047305CRB1c.3358C>G (p.Pro1120Ala)
c.2239C>G (p.Pro747Ala)
c.1501C>G (p.Pro501Ala)
c.3022C>G (p.Pro1008Ala)
c.3286C>G (p.Pro1096Ala)
c.2129-379C>G (n.2129-379C>G)
n.3359C>G
n.3567C>G
c.2776C>G (p.Pro926Ala)
c.1801C>G (p.Pro601Ala)
c.2515C>G (p.Pro839Ala)
c.3493C>G (p.Pro1165Ala)
n.3311C>G
n.3519C>G
1g.197435221C>TCA344047302CRB1c.3358C>T (p.Pro1120Ser)
c.2239C>T (p.Pro747Ser)
c.1501C>T (p.Pro501Ser)
c.3022C>T (p.Pro1008Ser)
c.3286C>T (p.Pro1096Ser)
c.2129-379C>T (n.2129-379C>T)
n.3359C>T
n.3567C>T
c.2776C>T (p.Pro926Ser)
c.1801C>T (p.Pro601Ser)
c.2515C>T (p.Pro839Ser)
c.3493C>T (p.Pro1165Ser)
n.3311C>T
n.3519C>T
 dbSNP gnomAD v2 gnomAD v4
1g.197435222C>ACA344047309CRB1c.3359C>A (p.Pro1120His)
c.2240C>A (p.Pro747His)
c.1502C>A (p.Pro501His)
c.3023C>A (p.Pro1008His)
c.3287C>A (p.Pro1096His)
c.2129-378C>A (n.2129-378C>A)
n.3360C>A
n.3568C>A
c.2777C>A (p.Pro926His)
c.1802C>A (p.Pro601His)
c.2516C>A (p.Pro839His)
c.3494C>A (p.Pro1165His)
n.3312C>A
n.3520C>A
1g.197435222C>GCA344047312CRB1c.3359C>G (p.Pro1120Arg)
c.2240C>G (p.Pro747Arg)
c.1502C>G (p.Pro501Arg)
c.3023C>G (p.Pro1008Arg)
c.3287C>G (p.Pro1096Arg)
c.2129-378C>G (n.2129-378C>G)
n.3360C>G
n.3568C>G
c.2777C>G (p.Pro926Arg)
c.1802C>G (p.Pro601Arg)
c.2516C>G (p.Pro839Arg)
c.3494C>G (p.Pro1165Arg)
n.3312C>G
n.3520C>G
1g.197435222C>TCA344047315CRB1c.3359C>T (p.Pro1120Leu)
c.2240C>T (p.Pro747Leu)
c.1502C>T (p.Pro501Leu)
c.3023C>T (p.Pro1008Leu)
c.3287C>T (p.Pro1096Leu)
c.2129-378C>T (n.2129-378C>T)
n.3360C>T
n.3568C>T
c.2777C>T (p.Pro926Leu)
c.1802C>T (p.Pro601Leu)
c.2516C>T (p.Pro839Leu)
c.3494C>T (p.Pro1165Leu)
n.3312C>T
n.3520C>T
1g.197435223T>ACA422809238CRB1c.3360T>A (p.Pro1120=)
c.2241T>A (p.Pro747=)
c.1503T>A (p.Pro501=)
c.3024T>A (p.Pro1008=)
c.3288T>A (p.Pro1096=)
c.2129-377T>A (n.2129-377T>A)
n.3361T>A
n.3569T>A
c.2778T>A (p.Pro926=)
c.1803T>A (p.Pro601=)
c.2517T>A (p.Pro839=)
c.3495T>A (p.Pro1165=)
n.3313T>A
n.3521T>A
1g.197435223T>CCA422809239CRB1c.3360T>C (p.Pro1120=)
c.2241T>C (p.Pro747=)
c.1503T>C (p.Pro501=)
c.3024T>C (p.Pro1008=)
c.3288T>C (p.Pro1096=)
c.2129-377T>C (n.2129-377T>C)
n.3361T>C
n.3569T>C
c.2778T>C (p.Pro926=)
c.1803T>C (p.Pro601=)
c.2517T>C (p.Pro839=)
c.3495T>C (p.Pro1165=)
n.3313T>C
n.3521T>C
 dbSNP gnomAD v2 gnomAD v4
1g.197435223T>GCA422809240CRB1c.3360T>G (p.Pro1120=)
c.2241T>G (p.Pro747=)
c.1503T>G (p.Pro501=)
c.3024T>G (p.Pro1008=)
c.3288T>G (p.Pro1096=)
c.2129-377T>G (n.2129-377T>G)
n.3361T>G
n.3569T>G
c.2778T>G (p.Pro926=)
c.1803T>G (p.Pro601=)
c.2517T>G (p.Pro839=)
c.3495T>G (p.Pro1165=)
n.3313T>G
n.3521T>G
1g.197435223T=CA1218068841CRB1c.3360T= (p.Pro1120=)
c.2241T= (p.Pro747=)
c.1503T= (p.Pro501=)
c.3024T= (p.Pro1008=)
c.3288T= (p.Pro1096=)
c.2129-377T= (n.2129-377T=)
n.3361T=
n.3569T=
c.2778T= (p.Pro926=)
c.1803T= (p.Pro601=)
c.2517T= (p.Pro839=)
c.3495T= (p.Pro1165=)
n.3313T=
n.3521T=
1g.197435224C>ACA344047319CRB1c.3361C>A (p.Gln1121Lys)
c.2242C>A (p.Gln748Lys)
c.1504C>A (p.Gln502Lys)
c.3025C>A (p.Gln1009Lys)
c.3289C>A (p.Gln1097Lys)
c.2129-376C>A (n.2129-376C>A)
n.3362C>A
n.3570C>A
c.2779C>A (p.Gln927Lys)
c.1804C>A (p.Gln602Lys)
c.2518C>A (p.Gln840Lys)
c.3496C>A (p.Gln1166Lys)
n.3314C>A
n.3522C>A
1g.197435224C>GCA344047321CRB1c.3361C>G (p.Gln1121Glu)
c.2242C>G (p.Gln748Glu)
c.1504C>G (p.Gln502Glu)
c.3025C>G (p.Gln1009Glu)
c.3289C>G (p.Gln1097Glu)
c.2129-376C>G (n.2129-376C>G)
n.3362C>G
n.3570C>G
c.2779C>G (p.Gln927Glu)
c.1804C>G (p.Gln602Glu)
c.2518C>G (p.Gln840Glu)
c.3496C>G (p.Gln1166Glu)
n.3314C>G
n.3522C>G
1g.197435224C>TCA344047324CRB1c.3361C>T (p.Gln1121Ter)
c.2242C>T (p.Gln748Ter)
c.1504C>T (p.Gln502Ter)
c.3025C>T (p.Gln1009Ter)
c.3289C>T (p.Gln1097Ter)
c.2129-376C>T (n.2129-376C>T)
n.3362C>T
n.3570C>T
c.2779C>T (p.Gln927Ter)
c.1804C>T (p.Gln602Ter)
c.2518C>T (p.Gln840Ter)
c.3496C>T (p.Gln1166Ter)
n.3314C>T
n.3522C>T
 ClinVar dbSNP
1g.197435225A=CA1218068842CRB1c.3362A= (p.Gln1121=)
c.2243A= (p.Gln748=)
c.1505A= (p.Gln502=)
c.3026A= (p.Gln1009=)
c.3290A= (p.Gln1097=)
c.2129-375A= (n.2129-375A=)
n.3363A=
n.3571A=
c.2780A= (p.Gln927=)
c.1805A= (p.Gln602=)
c.2519A= (p.Gln840=)
c.3497A= (p.Gln1166=)
n.3315A=
n.3523A=
1g.197435225A>CCA344047325CRB1c.3362A>C (p.Gln1121Pro)
c.2243A>C (p.Gln748Pro)
c.1505A>C (p.Gln502Pro)
c.3026A>C (p.Gln1009Pro)
c.3290A>C (p.Gln1097Pro)
c.2129-375A>C (n.2129-375A>C)
n.3363A>C
n.3571A>C
c.2780A>C (p.Gln927Pro)
c.1805A>C (p.Gln602Pro)
c.2519A>C (p.Gln840Pro)
c.3497A>C (p.Gln1166Pro)
n.3315A>C
n.3523A>C
1g.197435225A>GCA1312320CRB1c.3362A>G (p.Gln1121Arg)
c.2243A>G (p.Gln748Arg)
c.1505A>G (p.Gln502Arg)
c.3026A>G (p.Gln1009Arg)
c.3290A>G (p.Gln1097Arg)
c.2129-375A>G (n.2129-375A>G)
n.3363A>G
n.3571A>G
c.2780A>G (p.Gln927Arg)
c.1805A>G (p.Gln602Arg)
c.2519A>G (p.Gln840Arg)
c.3497A>G (p.Gln1166Arg)
n.3315A>G
n.3523A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197435225A>TCA344047326CRB1c.3362A>T (p.Gln1121Leu)
c.2243A>T (p.Gln748Leu)
c.1505A>T (p.Gln502Leu)
c.3026A>T (p.Gln1009Leu)
c.3290A>T (p.Gln1097Leu)
c.2129-375A>T (n.2129-375A>T)
n.3363A>T
n.3571A>T
c.2780A>T (p.Gln927Leu)
c.1805A>T (p.Gln602Leu)
c.2519A>T (p.Gln840Leu)
c.3497A>T (p.Gln1166Leu)
n.3315A>T
n.3523A>T
1g.197435226G>ACA422809244CRB1c.3363G>A (p.Gln1121=)
c.2244G>A (p.Gln748=)
c.1506G>A (p.Gln502=)
c.3027G>A (p.Gln1009=)
c.3291G>A (p.Gln1097=)
c.2129-374G>A (n.2129-374G>A)
n.3364G>A
n.3572G>A
c.2781G>A (p.Gln927=)
c.1806G>A (p.Gln602=)
c.2520G>A (p.Gln840=)
c.3498G>A (p.Gln1166=)
n.3316G>A
n.3524G>A
 COSMIC COSMIC
1g.197435226G>CCA344047328CRB1c.3363G>C (p.Gln1121His)
c.2244G>C (p.Gln748His)
c.1506G>C (p.Gln502His)
c.3027G>C (p.Gln1009His)
c.3291G>C (p.Gln1097His)
c.2129-374G>C (n.2129-374G>C)
n.3364G>C
n.3572G>C
c.2781G>C (p.Gln927His)
c.1806G>C (p.Gln602His)
c.2520G>C (p.Gln840His)
c.3498G>C (p.Gln1166His)
n.3316G>C
n.3524G>C
1g.197435226G>TCA344047331CRB1c.3363G>T (p.Gln1121His)
c.2244G>T (p.Gln748His)
c.1506G>T (p.Gln502His)
c.3027G>T (p.Gln1009His)
c.3291G>T (p.Gln1097His)
c.2129-374G>T (n.2129-374G>T)
n.3364G>T
n.3572G>T
c.2781G>T (p.Gln927His)
c.1806G>T (p.Gln602His)
c.2520G>T (p.Gln840His)
c.3498G>T (p.Gln1166His)
n.3316G>T
n.3524G>T
1g.197435226_197435227delinsTTCA645534550CRB1c.3363_3364delinsTT (p.Gln1121HisfsTer2)
c.2244_2245delinsTT (p.Gln748HisfsTer2)
c.1506_1507delinsTT (p.Gln502HisfsTer2)
c.3027_3028delinsTT (p.Gln1009HisfsTer2)
c.3291_3292delinsTT (p.Gln1097HisfsTer2)
c.2129-374_2129-373delinsTT (n.2129-374_2129-373delinsTT)
n.3364_3365delinsTT
n.3572_3573delinsTT
c.2781_2782delinsTT (p.Gln927HisfsTer2)
c.1806_1807delinsTT (p.Gln602HisfsTer2)
c.2520_2521delinsTT (p.Gln840HisfsTer2)
c.3498_3499delinsTT (p.Gln1166HisfsTer2)
n.3316_3317delinsTT
n.3524_3525delinsTT
 COSMIC COSMIC
1g.197435227G>ACA344047341CRB1c.3364G>A (p.Glu1122Lys)
c.2245G>A (p.Glu749Lys)
c.1507G>A (p.Glu503Lys)
c.3028G>A (p.Glu1010Lys)
c.3292G>A (p.Glu1098Lys)
c.2129-373G>A (n.2129-373G>A)
n.3365G>A
n.3573G>A
c.2782G>A (p.Glu928Lys)
c.1807G>A (p.Glu603Lys)
c.2521G>A (p.Glu841Lys)
c.3499G>A (p.Glu1167Lys)
n.3317G>A
n.3525G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.197435227G>CCA344047337CRB1c.3364G>C (p.Glu1122Gln)
c.2245G>C (p.Glu749Gln)
c.1507G>C (p.Glu503Gln)
c.3028G>C (p.Glu1010Gln)
c.3292G>C (p.Glu1098Gln)
c.2129-373G>C (n.2129-373G>C)
n.3365G>C
n.3573G>C
c.2782G>C (p.Glu928Gln)
c.1807G>C (p.Glu603Gln)
c.2521G>C (p.Glu841Gln)
c.3499G>C (p.Glu1167Gln)
n.3317G>C
n.3525G>C
1g.197435227G=CA1218068843CRB1c.3364G= (p.Glu1122=)
c.2245G= (p.Glu749=)
c.1507G= (p.Glu503=)
c.3028G= (p.Glu1010=)
c.3292G= (p.Glu1098=)
c.2129-373G= (n.2129-373G=)
n.3365G=
n.3573G=
c.2782G= (p.Glu928=)
c.1807G= (p.Glu603=)
c.2521G= (p.Glu841=)
c.3499G= (p.Glu1167=)
n.3317G=
n.3525G=
1g.197435227G>TCA344047335CRB1c.3364G>T (p.Glu1122Ter)
c.2245G>T (p.Glu749Ter)
c.1507G>T (p.Glu503Ter)
c.3028G>T (p.Glu1010Ter)
c.3292G>T (p.Glu1098Ter)
c.2129-373G>T (n.2129-373G>T)
n.3365G>T
n.3573G>T
c.2782G>T (p.Glu928Ter)
c.1807G>T (p.Glu603Ter)
c.2521G>T (p.Glu841Ter)
c.3499G>T (p.Glu1167Ter)
n.3317G>T
n.3525G>T
1g.197435228A=CA1218068844CRB1c.3365A= (p.Glu1122=)
c.2246A= (p.Glu749=)
c.1508A= (p.Glu503=)
c.3029A= (p.Glu1010=)
c.3293A= (p.Glu1098=)
c.2129-372A= (n.2129-372A=)
n.3366A=
n.3574A=
c.2783A= (p.Glu928=)
c.1808A= (p.Glu603=)
c.2522A= (p.Glu841=)
c.3500A= (p.Glu1167=)
n.3318A=
n.3526A=
1g.197435228A>CCA344047346CRB1c.3365A>C (p.Glu1122Ala)
c.2246A>C (p.Glu749Ala)
c.1508A>C (p.Glu503Ala)
c.3029A>C (p.Glu1010Ala)
c.3293A>C (p.Glu1098Ala)
c.2129-372A>C (n.2129-372A>C)
n.3366A>C
n.3574A>C
c.2783A>C (p.Glu928Ala)
c.1808A>C (p.Glu603Ala)
c.2522A>C (p.Glu841Ala)
c.3500A>C (p.Glu1167Ala)
n.3318A>C
n.3526A>C
1g.197435228A>GCA344047349CRB1c.3365A>G (p.Glu1122Gly)
c.2246A>G (p.Glu749Gly)
c.1508A>G (p.Glu503Gly)
c.3029A>G (p.Glu1010Gly)
c.3293A>G (p.Glu1098Gly)
c.2129-372A>G (n.2129-372A>G)
n.3366A>G
n.3574A>G
c.2783A>G (p.Glu928Gly)
c.1808A>G (p.Glu603Gly)
c.2522A>G (p.Glu841Gly)
c.3500A>G (p.Glu1167Gly)
n.3318A>G
n.3526A>G
 dbSNP gnomAD v3 gnomAD v4
1g.197435228A>TCA344047351CRB1c.3365A>T (p.Glu1122Val)
c.2246A>T (p.Glu749Val)
c.1508A>T (p.Glu503Val)
c.3029A>T (p.Glu1010Val)
c.3293A>T (p.Glu1098Val)
c.2129-372A>T (n.2129-372A>T)
n.3366A>T
n.3574A>T
c.2783A>T (p.Glu928Val)
c.1808A>T (p.Glu603Val)
c.2522A>T (p.Glu841Val)
c.3500A>T (p.Glu1167Val)
n.3318A>T
n.3526A>T
1g.197435229A>CCA344047356CRB1c.3366A>C (p.Glu1122Asp)
c.2247A>C (p.Glu749Asp)
c.1509A>C (p.Glu503Asp)
c.3030A>C (p.Glu1010Asp)
c.3294A>C (p.Glu1098Asp)
c.2129-371A>C (n.2129-371A>C)
n.3367A>C
n.3575A>C
c.2784A>C (p.Glu928Asp)
c.1809A>C (p.Glu603Asp)
c.2523A>C (p.Glu841Asp)
c.3501A>C (p.Glu1167Asp)
n.3319A>C
n.3527A>C
1g.197435229A>GCA422809247CRB1c.3366A>G (p.Glu1122=)
c.2247A>G (p.Glu749=)
c.1509A>G (p.Glu503=)
c.3030A>G (p.Glu1010=)
c.3294A>G (p.Glu1098=)
c.2129-371A>G (n.2129-371A>G)
n.3367A>G
n.3575A>G
c.2784A>G (p.Glu928=)
c.1809A>G (p.Glu603=)
c.2523A>G (p.Glu841=)
c.3501A>G (p.Glu1167=)
n.3319A>G
n.3527A>G
1g.197435229A>TCA344047357CRB1c.3366A>T (p.Glu1122Asp)
c.2247A>T (p.Glu749Asp)
c.1509A>T (p.Glu503Asp)
c.3030A>T (p.Glu1010Asp)
c.3294A>T (p.Glu1098Asp)
c.2129-371A>T (n.2129-371A>T)
n.3367A>T
n.3575A>T
c.2784A>T (p.Glu928Asp)
c.1809A>T (p.Glu603Asp)
c.2523A>T (p.Glu841Asp)
c.3501A>T (p.Glu1167Asp)
n.3319A>T
n.3527A>T
1g.197435230G>ACA344047362CRB1c.3367G>A (p.Glu1123Lys)
c.2248G>A (p.Glu750Lys)
c.1510G>A (p.Glu504Lys)
c.3031G>A (p.Glu1011Lys)
c.3295G>A (p.Glu1099Lys)
c.2129-370G>A (n.2129-370G>A)
n.3368G>A
n.3576G>A
c.2785G>A (p.Glu929Lys)
c.1810G>A (p.Glu604Lys)
c.2524G>A (p.Glu842Lys)
c.3502G>A (p.Glu1168Lys)
n.3320G>A
n.3528G>A
1g.197435230G>CCA344047367CRB1c.3367G>C (p.Glu1123Gln)
c.2248G>C (p.Glu750Gln)
c.1510G>C (p.Glu504Gln)
c.3031G>C (p.Glu1011Gln)
c.3295G>C (p.Glu1099Gln)
c.2129-370G>C (n.2129-370G>C)
n.3368G>C
n.3576G>C
c.2785G>C (p.Glu929Gln)
c.1810G>C (p.Glu604Gln)
c.2524G>C (p.Glu842Gln)
c.3502G>C (p.Glu1168Gln)
n.3320G>C
n.3528G>C
1g.197435230G>TCA344047369CRB1c.3367G>T (p.Glu1123Ter)
c.2248G>T (p.Glu750Ter)
c.1510G>T (p.Glu504Ter)
c.3031G>T (p.Glu1011Ter)
c.3295G>T (p.Glu1099Ter)
c.2129-370G>T (n.2129-370G>T)
n.3368G>T
n.3576G>T
c.2785G>T (p.Glu929Ter)
c.1810G>T (p.Glu604Ter)
c.2524G>T (p.Glu842Ter)
c.3502G>T (p.Glu1168Ter)
n.3320G>T
n.3528G>T
1g.197435231A>CCA344047377CRB1c.3368A>C (p.Glu1123Ala)
c.2249A>C (p.Glu750Ala)
c.1511A>C (p.Glu504Ala)
c.3032A>C (p.Glu1011Ala)
c.3296A>C (p.Glu1099Ala)
c.2129-369A>C (n.2129-369A>C)
n.3369A>C
n.3577A>C
c.2786A>C (p.Glu929Ala)
c.1811A>C (p.Glu604Ala)
c.2525A>C (p.Glu842Ala)
c.3503A>C (p.Glu1168Ala)
n.3321A>C
n.3529A>C
1g.197435231A>GCA344047379CRB1c.3368A>G (p.Glu1123Gly)
c.2249A>G (p.Glu750Gly)
c.1511A>G (p.Glu504Gly)
c.3032A>G (p.Glu1011Gly)
c.3296A>G (p.Glu1099Gly)
c.2129-369A>G (n.2129-369A>G)
n.3369A>G
n.3577A>G
c.2786A>G (p.Glu929Gly)
c.1811A>G (p.Glu604Gly)
c.2525A>G (p.Glu842Gly)
c.3503A>G (p.Glu1168Gly)
n.3321A>G
n.3529A>G
1g.197435231A>TCA344047383CRB1c.3368A>T (p.Glu1123Val)
c.2249A>T (p.Glu750Val)
c.1511A>T (p.Glu504Val)
c.3032A>T (p.Glu1011Val)
c.3296A>T (p.Glu1099Val)
c.2129-369A>T (n.2129-369A>T)
n.3369A>T
n.3577A>T
c.2786A>T (p.Glu929Val)
c.1811A>T (p.Glu604Val)
c.2525A>T (p.Glu842Val)
c.3503A>T (p.Glu1168Val)
n.3321A>T
n.3529A>T
1g.197435232G>ACA35907481CRB1c.3369G>A (p.Glu1123=)
c.2250G>A (p.Glu750=)
c.1512G>A (p.Glu504=)
c.3033G>A (p.Glu1011=)
c.3297G>A (p.Glu1099=)
c.2129-368G>A (n.2129-368G>A)
n.3370G>A
n.3578G>A
c.2787G>A (p.Glu929=)
c.1812G>A (p.Glu604=)
c.2526G>A (p.Glu842=)
c.3504G>A (p.Glu1168=)
n.3322G>A
n.3530G>A
 dbSNP gnomAD v2 gnomAD v4
1g.197435232G>CCA344047386CRB1c.3369G>C (p.Glu1123Asp)
c.2250G>C (p.Glu750Asp)
c.1512G>C (p.Glu504Asp)
c.3033G>C (p.Glu1011Asp)
c.3297G>C (p.Glu1099Asp)
c.2129-368G>C (n.2129-368G>C)
n.3370G>C
n.3578G>C
c.2787G>C (p.Glu929Asp)
c.1812G>C (p.Glu604Asp)
c.2526G>C (p.Glu842Asp)
c.3504G>C (p.Glu1168Asp)
n.3322G>C
n.3530G>C
1g.197435232G=CA1218068845CRB1c.3369G= (p.Glu1123=)
c.2250G= (p.Glu750=)
c.1512G= (p.Glu504=)
c.3033G= (p.Glu1011=)
c.3297G= (p.Glu1099=)
c.2129-368G= (n.2129-368G=)
n.3370G=
n.3578G=
c.2787G= (p.Glu929=)
c.1812G= (p.Glu604=)
c.2526G= (p.Glu842=)
c.3504G= (p.Glu1168=)
n.3322G=
n.3530G=
1g.197435232G>TCA344047390CRB1c.3369G>T (p.Glu1123Asp)
c.2250G>T (p.Glu750Asp)
c.1512G>T (p.Glu504Asp)
c.3033G>T (p.Glu1011Asp)
c.3297G>T (p.Glu1099Asp)
c.2129-368G>T (n.2129-368G>T)
n.3370G>T
n.3578G>T
c.2787G>T (p.Glu929Asp)
c.1812G>T (p.Glu604Asp)
c.2526G>T (p.Glu842Asp)
c.3504G>T (p.Glu1168Asp)
n.3322G>T
n.3530G>T
1g.197435233C>ACA344047396CRB1c.3370C>A (p.Gln1124Lys)
c.2251C>A (p.Gln751Lys)
c.1513C>A (p.Gln505Lys)
c.3034C>A (p.Gln1012Lys)
c.3298C>A (p.Gln1100Lys)
c.2129-367C>A (n.2129-367C>A)
n.3371C>A
n.3579C>A
c.2788C>A (p.Gln930Lys)
c.1813C>A (p.Gln605Lys)
c.2527C>A (p.Gln843Lys)
c.3505C>A (p.Gln1169Lys)
n.3323C>A
n.3531C>A
 dbSNP gnomAD v2 gnomAD v4
1g.197435233C=CA1218068846CRB1c.3370C= (p.Gln1124=)
c.2251C= (p.Gln751=)
c.1513C= (p.Gln505=)
c.3034C= (p.Gln1012=)
c.3298C= (p.Gln1100=)
c.2129-367C= (n.2129-367C=)
n.3371C=
n.3579C=
c.2788C= (p.Gln930=)
c.1813C= (p.Gln605=)
c.2527C= (p.Gln843=)
c.3505C= (p.Gln1169=)
n.3323C=
n.3531C=
1g.197435233C>GCA344047399CRB1c.3370C>G (p.Gln1124Glu)
c.2251C>G (p.Gln751Glu)
c.1513C>G (p.Gln505Glu)
c.3034C>G (p.Gln1012Glu)
c.3298C>G (p.Gln1100Glu)
c.2129-367C>G (n.2129-367C>G)
n.3371C>G
n.3579C>G
c.2788C>G (p.Gln930Glu)
c.1813C>G (p.Gln605Glu)
c.2527C>G (p.Gln843Glu)
c.3505C>G (p.Gln1169Glu)
n.3323C>G
n.3531C>G
1g.197435233C>TCA344047394CRB1c.3370C>T (p.Gln1124Ter)
c.2251C>T (p.Gln751Ter)
c.1513C>T (p.Gln505Ter)
c.3034C>T (p.Gln1012Ter)
c.3298C>T (p.Gln1100Ter)
c.2129-367C>T (n.2129-367C>T)
n.3371C>T
n.3579C>T
c.2788C>T (p.Gln930Ter)
c.1813C>T (p.Gln605Ter)
c.2527C>T (p.Gln843Ter)
c.3505C>T (p.Gln1169Ter)
n.3323C>T
n.3531C>T
1g.197435234A>CCA344047403CRB1c.3371A>C (p.Gln1124Pro)
c.2252A>C (p.Gln751Pro)
c.1514A>C (p.Gln505Pro)
c.3035A>C (p.Gln1012Pro)
c.3299A>C (p.Gln1100Pro)
c.2129-366A>C (n.2129-366A>C)
n.3372A>C
n.3580A>C
c.2789A>C (p.Gln930Pro)
c.1814A>C (p.Gln605Pro)
c.2528A>C (p.Gln843Pro)
c.3506A>C (p.Gln1169Pro)
n.3324A>C
n.3532A>C
1g.197435234A>GCA344047402CRB1c.3371A>G (p.Gln1124Arg)
c.2252A>G (p.Gln751Arg)
c.1514A>G (p.Gln505Arg)
c.3035A>G (p.Gln1012Arg)
c.3299A>G (p.Gln1100Arg)
c.2129-366A>G (n.2129-366A>G)
n.3372A>G
n.3580A>G
c.2789A>G (p.Gln930Arg)
c.1814A>G (p.Gln605Arg)
c.2528A>G (p.Gln843Arg)
c.3506A>G (p.Gln1169Arg)
n.3324A>G
n.3532A>G
1g.197435234A>TCA344047404CRB1c.3371A>T (p.Gln1124Leu)
c.2252A>T (p.Gln751Leu)
c.1514A>T (p.Gln505Leu)
c.3035A>T (p.Gln1012Leu)
c.3299A>T (p.Gln1100Leu)
c.2129-366A>T (n.2129-366A>T)
n.3372A>T
n.3580A>T
c.2789A>T (p.Gln930Leu)
c.1814A>T (p.Gln605Leu)
c.2528A>T (p.Gln843Leu)
c.3506A>T (p.Gln1169Leu)
n.3324A>T
n.3532A>T
1g.197435235A=CA1144106720CRB1c.3372A= (p.Gln1124=)
c.2253A= (p.Gln751=)
c.1515A= (p.Gln505=)
c.3036A= (p.Gln1012=)
c.3300A= (p.Gln1100=)
c.2129-365A= (n.2129-365A=)
n.3373A=
n.3581A=
c.2790A= (p.Gln930=)
c.1815A= (p.Gln605=)
c.2529A= (p.Gln843=)
c.3507A= (p.Gln1169=)
n.3325A=
n.3533A=
1g.197435235A>CCA1312322CRB1c.3372A>C (p.Gln1124His)
c.2253A>C (p.Gln751His)
c.1515A>C (p.Gln505His)
c.3036A>C (p.Gln1012His)
c.3300A>C (p.Gln1100His)
c.2129-365A>C (n.2129-365A>C)
n.3373A>C
n.3581A>C
c.2790A>C (p.Gln930His)
c.1815A>C (p.Gln605His)
c.2529A>C (p.Gln843His)
c.3507A>C (p.Gln1169His)
n.3325A>C
n.3533A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435235A>GCA1312321CRB1c.3372A>G (p.Gln1124=)
c.2253A>G (p.Gln751=)
c.1515A>G (p.Gln505=)
c.3036A>G (p.Gln1012=)
c.3300A>G (p.Gln1100=)
c.2129-365A>G (n.2129-365A>G)
n.3373A>G
n.3581A>G
c.2790A>G (p.Gln930=)
c.1815A>G (p.Gln605=)
c.2529A>G (p.Gln843=)
c.3507A>G (p.Gln1169=)
n.3325A>G
n.3533A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435235A>TCA344047412CRB1c.3372A>T (p.Gln1124His)
c.2253A>T (p.Gln751His)
c.1515A>T (p.Gln505His)
c.3036A>T (p.Gln1012His)
c.3300A>T (p.Gln1100His)
c.2129-365A>T (n.2129-365A>T)
n.3373A>T
n.3581A>T
c.2790A>T (p.Gln930His)
c.1815A>T (p.Gln605His)
c.2529A>T (p.Gln843His)
c.3507A>T (p.Gln1169His)
n.3325A>T
n.3533A>T
1g.197435236T>ACA344047417CRB1c.3373T>A (p.Phe1125Ile)
c.2254T>A (p.Phe752Ile)
c.1516T>A (p.Phe506Ile)
c.3037T>A (p.Phe1013Ile)
c.3301T>A (p.Phe1101Ile)
c.2129-364T>A (n.2129-364T>A)
n.3374T>A
n.3582T>A
c.2791T>A (p.Phe931Ile)
c.1816T>A (p.Phe606Ile)
c.2530T>A (p.Phe844Ile)
c.3508T>A (p.Phe1170Ile)
n.3326T>A
n.3534T>A
1g.197435236T>CCA344047420CRB1c.3373T>C (p.Phe1125Leu)
c.2254T>C (p.Phe752Leu)
c.1516T>C (p.Phe506Leu)
c.3037T>C (p.Phe1013Leu)
c.3301T>C (p.Phe1101Leu)
c.2129-364T>C (n.2129-364T>C)
n.3374T>C
n.3582T>C
c.2791T>C (p.Phe931Leu)
c.1816T>C (p.Phe606Leu)
c.2530T>C (p.Phe844Leu)
c.3508T>C (p.Phe1170Leu)
n.3326T>C
n.3534T>C
 ClinVar
1g.197435236T>GCA344047423CRB1c.3373T>G (p.Phe1125Val)
c.2254T>G (p.Phe752Val)
c.1516T>G (p.Phe506Val)
c.3037T>G (p.Phe1013Val)
c.3301T>G (p.Phe1101Val)
c.2129-364T>G (n.2129-364T>G)
n.3374T>G
n.3582T>G
c.2791T>G (p.Phe931Val)
c.1816T>G (p.Phe606Val)
c.2530T>G (p.Phe844Val)
c.3508T>G (p.Phe1170Val)
n.3326T>G
n.3534T>G
1g.197435237T>ACA344047426CRB1c.3374T>A (p.Phe1125Tyr)
c.2255T>A (p.Phe752Tyr)
c.1517T>A (p.Phe506Tyr)
c.3038T>A (p.Phe1013Tyr)
c.3302T>A (p.Phe1101Tyr)
c.2129-363T>A (n.2129-363T>A)
n.3375T>A
n.3583T>A
c.2792T>A (p.Phe931Tyr)
c.1817T>A (p.Phe606Tyr)
c.2531T>A (p.Phe844Tyr)
c.3509T>A (p.Phe1170Tyr)
n.3327T>A
n.3535T>A
1g.197435237T>CCA344047429CRB1c.3374T>C (p.Phe1125Ser)
c.2255T>C (p.Phe752Ser)
c.1517T>C (p.Phe506Ser)
c.3038T>C (p.Phe1013Ser)
c.3302T>C (p.Phe1101Ser)
c.2129-363T>C (n.2129-363T>C)
n.3375T>C
n.3583T>C
c.2792T>C (p.Phe931Ser)
c.1817T>C (p.Phe606Ser)
c.2531T>C (p.Phe844Ser)
c.3509T>C (p.Phe1170Ser)
n.3327T>C
n.3535T>C
1g.197435237T>GCA344047437CRB1c.3374T>G (p.Phe1125Cys)
c.2255T>G (p.Phe752Cys)
c.1517T>G (p.Phe506Cys)
c.3038T>G (p.Phe1013Cys)
c.3302T>G (p.Phe1101Cys)
c.2129-363T>G (n.2129-363T>G)
n.3375T>G
n.3583T>G
c.2792T>G (p.Phe931Cys)
c.1817T>G (p.Phe606Cys)
c.2531T>G (p.Phe844Cys)
c.3509T>G (p.Phe1170Cys)
n.3327T>G
n.3535T>G
1g.197435238T>ACA344047441CRB1c.3375T>A (p.Phe1125Leu)
c.2256T>A (p.Phe752Leu)
c.1518T>A (p.Phe506Leu)
c.3039T>A (p.Phe1013Leu)
c.3303T>A (p.Phe1101Leu)
c.2129-362T>A (n.2129-362T>A)
n.3376T>A
n.3584T>A
c.2793T>A (p.Phe931Leu)
c.1818T>A (p.Phe606Leu)
c.2532T>A (p.Phe844Leu)
c.3510T>A (p.Phe1170Leu)
n.3328T>A
n.3536T>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197435238T>CCA422809258CRB1c.3375T>C (p.Phe1125=)
c.2256T>C (p.Phe752=)
c.1518T>C (p.Phe506=)
c.3039T>C (p.Phe1013=)
c.3303T>C (p.Phe1101=)
c.2129-362T>C (n.2129-362T>C)
n.3376T>C
n.3584T>C
c.2793T>C (p.Phe931=)
c.1818T>C (p.Phe606=)
c.2532T>C (p.Phe844=)
c.3510T>C (p.Phe1170=)
n.3328T>C
n.3536T>C
1g.197435238T>GCA344047443CRB1c.3375T>G (p.Phe1125Leu)
c.2256T>G (p.Phe752Leu)
c.1518T>G (p.Phe506Leu)
c.3039T>G (p.Phe1013Leu)
c.3303T>G (p.Phe1101Leu)
c.2129-362T>G (n.2129-362T>G)
n.3376T>G
n.3584T>G
c.2793T>G (p.Phe931Leu)
c.1818T>G (p.Phe606Leu)
c.2532T>G (p.Phe844Leu)
c.3510T>G (p.Phe1170Leu)
n.3328T>G
n.3536T>G
1g.197435238T=CA1218068847CRB1c.3375T= (p.Phe1125=)
c.2256T= (p.Phe752=)
c.1518T= (p.Phe506=)
c.3039T= (p.Phe1013=)
c.3303T= (p.Phe1101=)
c.2129-362T= (n.2129-362T=)
n.3376T=
n.3584T=
c.2793T= (p.Phe931=)
c.1818T= (p.Phe606=)
c.2532T= (p.Phe844=)
c.3510T= (p.Phe1170=)
n.3328T=
n.3536T=
1g.197435239C>ACA1312323CRB1c.3376C>A (p.Leu1126Ile)
c.2257C>A (p.Leu753Ile)
c.1519C>A (p.Leu507Ile)
c.3040C>A (p.Leu1014Ile)
c.3304C>A (p.Leu1102Ile)
c.2129-361C>A (n.2129-361C>A)
n.3377C>A
n.3585C>A
c.2794C>A (p.Leu932Ile)
c.1819C>A (p.Leu607Ile)
c.2533C>A (p.Leu845Ile)
c.3511C>A (p.Leu1171Ile)
n.3329C>A
n.3537C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.197435239C=CA1142299971CRB1c.3376C= (p.Leu1126=)
c.2257C= (p.Leu753=)
c.1519C= (p.Leu507=)
c.3040C= (p.Leu1014=)
c.3304C= (p.Leu1102=)
c.2129-361C= (n.2129-361C=)
n.3377C=
n.3585C=
c.2794C= (p.Leu932=)
c.1819C= (p.Leu607=)
c.2533C= (p.Leu845=)
c.3511C= (p.Leu1171=)
n.3329C=
n.3537C=
1g.197435239C>GCA344047448CRB1c.3376C>G (p.Leu1126Val)
c.2257C>G (p.Leu753Val)
c.1519C>G (p.Leu507Val)
c.3040C>G (p.Leu1014Val)
c.3304C>G (p.Leu1102Val)
c.2129-361C>G (n.2129-361C>G)
n.3377C>G
n.3585C>G
c.2794C>G (p.Leu932Val)
c.1819C>G (p.Leu607Val)
c.2533C>G (p.Leu845Val)
c.3511C>G (p.Leu1171Val)
n.3329C>G
n.3537C>G
1g.197435239C>TCA35907512CRB1c.3376C>T (p.Leu1126Phe)
c.2257C>T (p.Leu753Phe)
c.1519C>T (p.Leu507Phe)
c.3040C>T (p.Leu1014Phe)
c.3304C>T (p.Leu1102Phe)
c.2129-361C>T (n.2129-361C>T)
n.3377C>T
n.3585C>T
c.2794C>T (p.Leu932Phe)
c.1819C>T (p.Leu607Phe)
c.2533C>T (p.Leu845Phe)
c.3511C>T (p.Leu1171Phe)
n.3329C>T
n.3537C>T
 dbSNP gnomAD v4 COSMIC COSMIC
1g.197435240T>ACA344047461CRB1c.3377T>A (p.Leu1126His)
c.2258T>A (p.Leu753His)
c.1520T>A (p.Leu507His)
c.3041T>A (p.Leu1014His)
c.3305T>A (p.Leu1102His)
c.2129-360T>A (n.2129-360T>A)
n.3378T>A
n.3586T>A
c.2795T>A (p.Leu932His)
c.1820T>A (p.Leu607His)
c.2534T>A (p.Leu845His)
c.3512T>A (p.Leu1171His)
n.3330T>A
n.3538T>A
1g.197435240T>CCA344047462CRB1c.3377T>C (p.Leu1126Pro)
c.2258T>C (p.Leu753Pro)
c.1520T>C (p.Leu507Pro)
c.3041T>C (p.Leu1014Pro)
c.3305T>C (p.Leu1102Pro)
c.2129-360T>C (n.2129-360T>C)
n.3378T>C
n.3586T>C
c.2795T>C (p.Leu932Pro)
c.1820T>C (p.Leu607Pro)
c.2534T>C (p.Leu845Pro)
c.3512T>C (p.Leu1171Pro)
n.3330T>C
n.3538T>C
1g.197435240T>GCA35907519CRB1c.3377T>G (p.Leu1126Arg)
c.2258T>G (p.Leu753Arg)
c.1520T>G (p.Leu507Arg)
c.3041T>G (p.Leu1014Arg)
c.3305T>G (p.Leu1102Arg)
c.2129-360T>G (n.2129-360T>G)
n.3378T>G
n.3586T>G
c.2795T>G (p.Leu932Arg)
c.1820T>G (p.Leu607Arg)
c.2534T>G (p.Leu845Arg)
c.3512T>G (p.Leu1171Arg)
n.3330T>G
n.3538T>G
 dbSNP
1g.197435240T=CA1218068848CRB1c.3377T= (p.Leu1126=)
c.2258T= (p.Leu753=)
c.1520T= (p.Leu507=)
c.3041T= (p.Leu1014=)
c.3305T= (p.Leu1102=)
c.2129-360T= (n.2129-360T=)
n.3378T=
n.3586T=
c.2795T= (p.Leu932=)
c.1820T= (p.Leu607=)
c.2534T= (p.Leu845=)
c.3512T= (p.Leu1171=)
n.3330T=
n.3538T=
1g.197435241C>ACA422809266CRB1c.3378C>A (p.Leu1126=)
c.2259C>A (p.Leu753=)
c.1521C>A (p.Leu507=)
c.3042C>A (p.Leu1014=)
c.3306C>A (p.Leu1102=)
c.2129-359C>A (n.2129-359C>A)
n.3379C>A
n.3587C>A
c.2796C>A (p.Leu932=)
c.1821C>A (p.Leu607=)
c.2535C>A (p.Leu845=)
c.3513C>A (p.Leu1171=)
n.3331C>A
n.3539C>A
1g.197435241C>GCA422809265CRB1c.3378C>G (p.Leu1126=)
c.2259C>G (p.Leu753=)
c.1521C>G (p.Leu507=)
c.3042C>G (p.Leu1014=)
c.3306C>G (p.Leu1102=)
c.2129-359C>G (n.2129-359C>G)
n.3379C>G
n.3587C>G
c.2796C>G (p.Leu932=)
c.1821C>G (p.Leu607=)
c.2535C>G (p.Leu845=)
c.3513C>G (p.Leu1171=)
n.3331C>G
n.3539C>G
 COSMIC
1g.197435241C>TCA422809264CRB1c.3378C>T (p.Leu1126=)
c.2259C>T (p.Leu753=)
c.1521C>T (p.Leu507=)
c.3042C>T (p.Leu1014=)
c.3306C>T (p.Leu1102=)
c.2129-359C>T (n.2129-359C>T)
n.3379C>T
n.3587C>T
c.2796C>T (p.Leu932=)
c.1821C>T (p.Leu607=)
c.2535C>T (p.Leu845=)
c.3513C>T (p.Leu1171=)
n.3331C>T
n.3539C>T
1g.197435241_197435242delinsCACA1218068849CRB1c.3378_3379delinsCA (p.Leu1126=)
c.2259_2260delinsCA (p.Leu753=)
c.1521_1522delinsCA (p.Leu507=)
c.3042_3043delinsCA (p.Leu1014=)
c.3306_3307delinsCA (p.Leu1102=)
c.2129-359_2129-358delinsCA (n.2129-359_2129-358delinsCA)
n.3379_3380delinsCA
n.3587_3588delinsCA
c.2796_2797delinsCA (p.Leu932=)
c.1821_1822delinsCA (p.Leu607=)
c.2535_2536delinsCA (p.Leu845=)
c.3513_3514delinsCA (p.Leu1171=)
n.3331_3332delinsCA
n.3539_3540delinsCA
1g.197435242A>CCA344047466CRB1c.3379A>C (p.Lys1127Gln)
c.2260A>C (p.Lys754Gln)
c.1522A>C (p.Lys508Gln)
c.3043A>C (p.Lys1015Gln)
c.3307A>C (p.Lys1103Gln)
c.2129-358A>C (n.2129-358A>C)
n.3380A>C
n.3588A>C
c.2797A>C (p.Lys933Gln)
c.1822A>C (p.Lys608Gln)
c.2536A>C (p.Lys846Gln)
c.3514A>C (p.Lys1172Gln)
n.3332A>C
n.3540A>C
1g.197435242A>GCA344047467CRB1c.3379A>G (p.Lys1127Glu)
c.2260A>G (p.Lys754Glu)
c.1522A>G (p.Lys508Glu)
c.3043A>G (p.Lys1015Glu)
c.3307A>G (p.Lys1103Glu)
c.2129-358A>G (n.2129-358A>G)
n.3380A>G
n.3588A>G
c.2797A>G (p.Lys933Glu)
c.1822A>G (p.Lys608Glu)
c.2536A>G (p.Lys846Glu)
c.3514A>G (p.Lys1172Glu)
n.3332A>G
n.3540A>G
1g.197435242A>TCA344047469CRB1c.3379A>T (p.Lys1127Ter)
c.2260A>T (p.Lys754Ter)
c.1522A>T (p.Lys508Ter)
c.3043A>T (p.Lys1015Ter)
c.3307A>T (p.Lys1103Ter)
c.2129-358A>T (n.2129-358A>T)
n.3380A>T
n.3588A>T
c.2797A>T (p.Lys933Ter)
c.1822A>T (p.Lys608Ter)
c.2536A>T (p.Lys846Ter)
c.3514A>T (p.Lys1172Ter)
n.3332A>T
n.3540A>T
1g.197435245delCA916375337CRB1c.3382del (p.Ile1128SerfsTer13)
c.2263del (p.Ile755SerfsTer13)
c.1525del (p.Ile509SerfsTer13)
c.3046del (p.Ile1016SerfsTer13)
c.3310del (p.Ile1104SerfsTer13)
c.2129-355del (n.2129-355del)
n.3383del
n.3591del
c.2800del (p.Ile934SerfsTer13)
c.1825del (p.Ile609SerfsTer13)
c.2539del (p.Ile847SerfsTer13)
c.3517del (p.Ile1173SerfsTer13)
n.3335del
n.3543del
 dbSNP
1g.197435243A=CA1218068850CRB1c.3380A= (p.Lys1127=)
c.2261A= (p.Lys754=)
c.1523A= (p.Lys508=)
c.3044A= (p.Lys1015=)
c.3308A= (p.Lys1103=)
c.2129-357A= (n.2129-357A=)
n.3381A=
n.3589A=
c.2798A= (p.Lys933=)
c.1823A= (p.Lys608=)
c.2537A= (p.Lys846=)
c.3515A= (p.Lys1172=)
n.3333A=
n.3541A=
1g.197435243A>CCA344047474CRB1c.3380A>C (p.Lys1127Thr)
c.2261A>C (p.Lys754Thr)
c.1523A>C (p.Lys508Thr)
c.3044A>C (p.Lys1015Thr)
c.3308A>C (p.Lys1103Thr)
c.2129-357A>C (n.2129-357A>C)
n.3381A>C
n.3589A>C
c.2798A>C (p.Lys933Thr)
c.1823A>C (p.Lys608Thr)
c.2537A>C (p.Lys846Thr)
c.3515A>C (p.Lys1172Thr)
n.3333A>C
n.3541A>C
1g.197435243A>GCA1312324CRB1c.3380A>G (p.Lys1127Arg)
c.2261A>G (p.Lys754Arg)
c.1523A>G (p.Lys508Arg)
c.3044A>G (p.Lys1015Arg)
c.3308A>G (p.Lys1103Arg)
c.2129-357A>G (n.2129-357A>G)
n.3381A>G
n.3589A>G
c.2798A>G (p.Lys933Arg)
c.1823A>G (p.Lys608Arg)
c.2537A>G (p.Lys846Arg)
c.3515A>G (p.Lys1172Arg)
n.3333A>G
n.3541A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197435243A>TCA344047479CRB1c.3380A>T (p.Lys1127Ile)
c.2261A>T (p.Lys754Ile)
c.1523A>T (p.Lys508Ile)
c.3044A>T (p.Lys1015Ile)
c.3308A>T (p.Lys1103Ile)
c.2129-357A>T (n.2129-357A>T)
n.3381A>T
n.3589A>T
c.2798A>T (p.Lys933Ile)
c.1823A>T (p.Lys608Ile)
c.2537A>T (p.Lys846Ile)
c.3515A>T (p.Lys1172Ile)
n.3333A>T
n.3541A>T
1g.197435244A=CA1218068851CRB1c.3381A= (p.Lys1127=)
c.2262A= (p.Lys754=)
c.1524A= (p.Lys508=)
c.3045A= (p.Lys1015=)
c.3309A= (p.Lys1103=)
c.2129-356A= (n.2129-356A=)
n.3382A=
n.3590A=
c.2799A= (p.Lys933=)
c.1824A= (p.Lys608=)
c.2538A= (p.Lys846=)
c.3516A= (p.Lys1172=)
n.3334A=
n.3542A=
1g.197435244A>CCA344047483CRB1c.3381A>C (p.Lys1127Asn)
c.2262A>C (p.Lys754Asn)
c.1524A>C (p.Lys508Asn)
c.3045A>C (p.Lys1015Asn)
c.3309A>C (p.Lys1103Asn)
c.2129-356A>C (n.2129-356A>C)
n.3382A>C
n.3590A>C
c.2799A>C (p.Lys933Asn)
c.1824A>C (p.Lys608Asn)
c.2538A>C (p.Lys846Asn)
c.3516A>C (p.Lys1172Asn)
n.3334A>C
n.3542A>C
 gnomAD v4
1g.197435244A>GCA422809272CRB1c.3381A>G (p.Lys1127=)
c.2262A>G (p.Lys754=)
c.1524A>G (p.Lys508=)
c.3045A>G (p.Lys1015=)
c.3309A>G (p.Lys1103=)
c.2129-356A>G (n.2129-356A>G)
n.3382A>G
n.3590A>G
c.2799A>G (p.Lys933=)
c.1824A>G (p.Lys608=)
c.2538A>G (p.Lys846=)
c.3516A>G (p.Lys1172=)
n.3334A>G
n.3542A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197435244A>TCA344047484CRB1c.3381A>T (p.Lys1127Asn)
c.2262A>T (p.Lys754Asn)
c.1524A>T (p.Lys508Asn)
c.3045A>T (p.Lys1015Asn)
c.3309A>T (p.Lys1103Asn)
c.2129-356A>T (n.2129-356A>T)
n.3382A>T
n.3590A>T
c.2799A>T (p.Lys933Asn)
c.1824A>T (p.Lys608Asn)
c.2538A>T (p.Lys846Asn)
c.3516A>T (p.Lys1172Asn)
n.3334A>T
n.3542A>T
1g.197435245A>CCA344047506CRB1c.3382A>C (p.Ile1128Leu)
c.2263A>C (p.Ile755Leu)
c.1525A>C (p.Ile509Leu)
c.3046A>C (p.Ile1016Leu)
c.3310A>C (p.Ile1104Leu)
c.2129-355A>C (n.2129-355A>C)
n.3383A>C
n.3591A>C
c.2800A>C (p.Ile934Leu)
c.1825A>C (p.Ile609Leu)
c.2539A>C (p.Ile847Leu)
c.3517A>C (p.Ile1173Leu)
n.3335A>C
n.3543A>C
1g.197435245A>GCA344047509CRB1c.3382A>G (p.Ile1128Val)
c.2263A>G (p.Ile755Val)
c.1525A>G (p.Ile509Val)
c.3046A>G (p.Ile1016Val)
c.3310A>G (p.Ile1104Val)
c.2129-355A>G (n.2129-355A>G)
n.3383A>G
n.3591A>G
c.2800A>G (p.Ile934Val)
c.1825A>G (p.Ile609Val)
c.2539A>G (p.Ile847Val)
c.3517A>G (p.Ile1173Val)
n.3335A>G
n.3543A>G
1g.197435245A>TCA344047489CRB1c.3382A>T (p.Ile1128Phe)
c.2263A>T (p.Ile755Phe)
c.1525A>T (p.Ile509Phe)
c.3046A>T (p.Ile1016Phe)
c.3310A>T (p.Ile1104Phe)
c.2129-355A>T (n.2129-355A>T)
n.3383A>T
n.3591A>T
c.2800A>T (p.Ile934Phe)
c.1825A>T (p.Ile609Phe)
c.2539A>T (p.Ile847Phe)
c.3517A>T (p.Ile1173Phe)
n.3335A>T
n.3543A>T
1g.197435245_197435246delinsATCA1218068852CRB1c.3382_3383delinsAT (p.Ile1128=)
c.2263_2264delinsAT (p.Ile755=)
c.1525_1526delinsAT (p.Ile509=)
c.3046_3047delinsAT (p.Ile1016=)
c.3310_3311delinsAT (p.Ile1104=)
c.2129-355_2129-354delinsAT (n.2129-355_2129-354delinsAT)
n.3383_3384delinsAT
n.3591_3592delinsAT
c.2800_2801delinsAT (p.Ile934=)
c.1825_1826delinsAT (p.Ile609=)
c.2539_2540delinsAT (p.Ile847=)
c.3517_3518delinsAT (p.Ile1173=)
n.3335_3336delinsAT
n.3543_3544delinsAT
1g.197435246delCA203797CRB1c.3383del (p.Ile1128ThrfsTer13)
c.2264del (p.Ile755ThrfsTer13)
c.1526del (p.Ile509ThrfsTer13)
c.3047del (p.Ile1016ThrfsTer13)
c.3311del (p.Ile1104ThrfsTer13)
c.2129-354del (n.2129-354del)
n.3384del
n.3592del
c.2801del (p.Ile934ThrfsTer13)
c.1826del (p.Ile609ThrfsTer13)
c.2540del (p.Ile847ThrfsTer13)
c.3518del (p.Ile1173ThrfsTer13)
n.3336del
n.3544del
 ClinVar dbSNP
1g.197435246T>ACA344047512CRB1c.3383T>A (p.Ile1128Asn)
c.2264T>A (p.Ile755Asn)
c.1526T>A (p.Ile509Asn)
c.3047T>A (p.Ile1016Asn)
c.3311T>A (p.Ile1104Asn)
c.2129-354T>A (n.2129-354T>A)
n.3384T>A
n.3592T>A
c.2801T>A (p.Ile934Asn)
c.1826T>A (p.Ile609Asn)
c.2540T>A (p.Ile847Asn)
c.3518T>A (p.Ile1173Asn)
n.3336T>A
n.3544T>A
1g.197435246T>CCA344047513CRB1c.3383T>C (p.Ile1128Thr)
c.2264T>C (p.Ile755Thr)
c.1526T>C (p.Ile509Thr)
c.3047T>C (p.Ile1016Thr)
c.3311T>C (p.Ile1104Thr)
c.2129-354T>C (n.2129-354T>C)
n.3384T>C
n.3592T>C
c.2801T>C (p.Ile934Thr)
c.1826T>C (p.Ile609Thr)
c.2540T>C (p.Ile847Thr)
c.3518T>C (p.Ile1173Thr)
n.3336T>C
n.3544T>C
1g.197435246T>GCA344047514CRB1c.3383T>G (p.Ile1128Ser)
c.2264T>G (p.Ile755Ser)
c.1526T>G (p.Ile509Ser)
c.3047T>G (p.Ile1016Ser)
c.3311T>G (p.Ile1104Ser)
c.2129-354T>G (n.2129-354T>G)
n.3384T>G
n.3592T>G
c.2801T>G (p.Ile934Ser)
c.1826T>G (p.Ile609Ser)
c.2540T>G (p.Ile847Ser)
c.3518T>G (p.Ile1173Ser)
n.3336T>G
n.3544T>G
1g.197435247C>ACA422809277CRB1c.3384C>A (p.Ile1128=)
c.2265C>A (p.Ile755=)
c.1527C>A (p.Ile509=)
c.3048C>A (p.Ile1016=)
c.3312C>A (p.Ile1104=)
c.2129-353C>A (n.2129-353C>A)
n.3385C>A
n.3593C>A
c.2802C>A (p.Ile934=)
c.1827C>A (p.Ile609=)
c.2541C>A (p.Ile847=)
c.3519C>A (p.Ile1173=)
n.3337C>A
n.3545C>A
 ClinVar dbSNP gnomAD v4
1g.197435247C>GCA344047518CRB1c.3384C>G (p.Ile1128Met)
c.2265C>G (p.Ile755Met)
c.1527C>G (p.Ile509Met)
c.3048C>G (p.Ile1016Met)
c.3312C>G (p.Ile1104Met)
c.2129-353C>G (n.2129-353C>G)
n.3385C>G
n.3593C>G
c.2802C>G (p.Ile934Met)
c.1827C>G (p.Ile609Met)
c.2541C>G (p.Ile847Met)
c.3519C>G (p.Ile1173Met)
n.3337C>G
n.3545C>G
1g.197435247C>TCA422809279CRB1c.3384C>T (p.Ile1128=)
c.2265C>T (p.Ile755=)
c.1527C>T (p.Ile509=)
c.3048C>T (p.Ile1016=)
c.3312C>T (p.Ile1104=)
c.2129-353C>T (n.2129-353C>T)
n.3385C>T
n.3593C>T
c.2802C>T (p.Ile934=)
c.1827C>T (p.Ile609=)
c.2541C>T (p.Ile847=)
c.3519C>T (p.Ile1173=)
n.3337C>T
n.3545C>T
1g.197435248T>ACA344047527CRB1c.3385T>A (p.Ser1129Thr)
c.2266T>A (p.Ser756Thr)
c.1528T>A (p.Ser510Thr)
c.3049T>A (p.Ser1017Thr)
c.3313T>A (p.Ser1105Thr)
c.2129-352T>A (n.2129-352T>A)
n.3386T>A
n.3594T>A
c.2803T>A (p.Ser935Thr)
c.1828T>A (p.Ser610Thr)
c.2542T>A (p.Ser848Thr)
c.3520T>A (p.Ser1174Thr)
n.3338T>A
n.3546T>A
1g.197435248T>CCA344047524CRB1c.3385T>C (p.Ser1129Pro)
c.2266T>C (p.Ser756Pro)
c.1528T>C (p.Ser510Pro)
c.3049T>C (p.Ser1017Pro)
c.3313T>C (p.Ser1105Pro)
c.2129-352T>C (n.2129-352T>C)
n.3386T>C
n.3594T>C
c.2803T>C (p.Ser935Pro)
c.1828T>C (p.Ser610Pro)
c.2542T>C (p.Ser848Pro)
c.3520T>C (p.Ser1174Pro)
n.3338T>C
n.3546T>C
1g.197435248T>GCA344047523CRB1c.3385T>G (p.Ser1129Ala)
c.2266T>G (p.Ser756Ala)
c.1528T>G (p.Ser510Ala)
c.3049T>G (p.Ser1017Ala)
c.3313T>G (p.Ser1105Ala)
c.2129-352T>G (n.2129-352T>G)
n.3386T>G
n.3594T>G
c.2803T>G (p.Ser935Ala)
c.1828T>G (p.Ser610Ala)
c.2542T>G (p.Ser848Ala)
c.3520T>G (p.Ser1174Ala)
n.3338T>G
n.3546T>G
 gnomAD v4
1g.197435249C>ACA344047531CRB1c.3386C>A (p.Ser1129Tyr)
c.2267C>A (p.Ser756Tyr)
c.1529C>A (p.Ser510Tyr)
c.3050C>A (p.Ser1017Tyr)
c.3314C>A (p.Ser1105Tyr)
c.2129-351C>A (n.2129-351C>A)
n.3387C>A
n.3595C>A
c.2804C>A (p.Ser935Tyr)
c.1829C>A (p.Ser610Tyr)
c.2543C>A (p.Ser848Tyr)
c.3521C>A (p.Ser1174Tyr)
n.3339C>A
n.3547C>A
1g.197435249C=CA1218068853CRB1c.3386C= (p.Ser1129=)
c.2267C= (p.Ser756=)
c.1529C= (p.Ser510=)
c.3050C= (p.Ser1017=)
c.3314C= (p.Ser1105=)
c.2129-351C= (n.2129-351C=)
n.3387C=
n.3595C=
c.2804C= (p.Ser935=)
c.1829C= (p.Ser610=)
c.2543C= (p.Ser848=)
c.3521C= (p.Ser1174=)
n.3339C=
n.3547C=
1g.197435249C>GCA344047533CRB1c.3386C>G (p.Ser1129Cys)
c.2267C>G (p.Ser756Cys)
c.1529C>G (p.Ser510Cys)
c.3050C>G (p.Ser1017Cys)
c.3314C>G (p.Ser1105Cys)
c.2129-351C>G (n.2129-351C>G)
n.3387C>G
n.3595C>G
c.2804C>G (p.Ser935Cys)
c.1829C>G (p.Ser610Cys)
c.2543C>G (p.Ser848Cys)
c.3521C>G (p.Ser1174Cys)
n.3339C>G
n.3547C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.197435249C>TCA1312325CRB1c.3386C>T (p.Ser1129Phe)
c.2267C>T (p.Ser756Phe)
c.1529C>T (p.Ser510Phe)
c.3050C>T (p.Ser1017Phe)
c.3314C>T (p.Ser1105Phe)
c.2129-351C>T (n.2129-351C>T)
n.3387C>T
n.3595C>T
c.2804C>T (p.Ser935Phe)
c.1829C>T (p.Ser610Phe)
c.2543C>T (p.Ser848Phe)
c.3521C>T (p.Ser1174Phe)
n.3339C>T
n.3547C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.197435250T>ACA422809293CRB1c.3387T>A (p.Ser1129=)
c.2268T>A (p.Ser756=)
c.1530T>A (p.Ser510=)
c.3051T>A (p.Ser1017=)
c.3315T>A (p.Ser1105=)
c.2129-350T>A (n.2129-350T>A)
n.3388T>A
n.3596T>A
c.2805T>A (p.Ser935=)
c.1830T>A (p.Ser610=)
c.2544T>A (p.Ser848=)
c.3522T>A (p.Ser1174=)
n.3340T>A
n.3548T>A
1g.197435250T>CCA422809294CRB1c.3387T>C (p.Ser1129=)
c.2268T>C (p.Ser756=)
c.1530T>C (p.Ser510=)
c.3051T>C (p.Ser1017=)
c.3315T>C (p.Ser1105=)
c.2129-350T>C (n.2129-350T>C)
n.3388T>C
n.3596T>C
c.2805T>C (p.Ser935=)
c.1830T>C (p.Ser610=)
c.2544T>C (p.Ser848=)
c.3522T>C (p.Ser1174=)
n.3340T>C
n.3548T>C
 COSMIC COSMIC
1g.197435250T>GCA422809291CRB1c.3387T>G (p.Ser1129=)
c.2268T>G (p.Ser756=)
c.1530T>G (p.Ser510=)
c.3051T>G (p.Ser1017=)
c.3315T>G (p.Ser1105=)
c.2129-350T>G (n.2129-350T>G)
n.3388T>G
n.3596T>G
c.2805T>G (p.Ser935=)
c.1830T>G (p.Ser610=)
c.2544T>G (p.Ser848=)
c.3522T>G (p.Ser1174=)
n.3340T>G
n.3548T>G
 ClinVar gnomAD v4
1g.197435251A=CA1218068854CRB1c.3388A= (p.Thr1130=)
c.2269A= (p.Thr757=)
c.1531A= (p.Thr511=)
c.3052A= (p.Thr1018=)
c.3316A= (p.Thr1106=)
c.2129-349A= (n.2129-349A=)
n.3389A=
n.3597A=
c.2806A= (p.Thr936=)
c.1831A= (p.Thr611=)
c.2545A= (p.Thr849=)
c.3523A= (p.Thr1175=)
n.3341A=
n.3549A=
1g.197435251A>CCA344047537CRB1c.3388A>C (p.Thr1130Pro)
c.2269A>C (p.Thr757Pro)
c.1531A>C (p.Thr511Pro)
c.3052A>C (p.Thr1018Pro)
c.3316A>C (p.Thr1106Pro)
c.2129-349A>C (n.2129-349A>C)
n.3389A>C
n.3597A>C
c.2806A>C (p.Thr936Pro)
c.1831A>C (p.Thr611Pro)
c.2545A>C (p.Thr849Pro)
c.3523A>C (p.Thr1175Pro)
n.3341A>C
n.3549A>C
1g.197435251A>GCA344047539CRB1c.3388A>G (p.Thr1130Ala)
c.2269A>G (p.Thr757Ala)
c.1531A>G (p.Thr511Ala)
c.3052A>G (p.Thr1018Ala)
c.3316A>G (p.Thr1106Ala)
c.2129-349A>G (n.2129-349A>G)
n.3389A>G
n.3597A>G
c.2806A>G (p.Thr936Ala)
c.1831A>G (p.Thr611Ala)
c.2545A>G (p.Thr849Ala)
c.3523A>G (p.Thr1175Ala)
n.3341A>G
n.3549A>G
 dbSNP
1g.197435251A>TCA344047540CRB1c.3388A>T (p.Thr1130Ser)
c.2269A>T (p.Thr757Ser)
c.1531A>T (p.Thr511Ser)
c.3052A>T (p.Thr1018Ser)
c.3316A>T (p.Thr1106Ser)
c.2129-349A>T (n.2129-349A>T)
n.3389A>T
n.3597A>T
c.2806A>T (p.Thr936Ser)
c.1831A>T (p.Thr611Ser)
c.2545A>T (p.Thr849Ser)
c.3523A>T (p.Thr1175Ser)
n.3341A>T
n.3549A>T
1g.197435252C>ACA344047541CRB1c.3389C>A (p.Thr1130Asn)
c.2270C>A (p.Thr757Asn)
c.1532C>A (p.Thr511Asn)
c.3053C>A (p.Thr1018Asn)
c.3317C>A (p.Thr1106Asn)
c.2129-348C>A (n.2129-348C>A)
n.3390C>A
n.3598C>A
c.2807C>A (p.Thr936Asn)
c.1832C>A (p.Thr611Asn)
c.2546C>A (p.Thr849Asn)
c.3524C>A (p.Thr1175Asn)
n.3342C>A
n.3550C>A
1g.197435252C>GCA344047544CRB1c.3389C>G (p.Thr1130Ser)
c.2270C>G (p.Thr757Ser)
c.1532C>G (p.Thr511Ser)
c.3053C>G (p.Thr1018Ser)
c.3317C>G (p.Thr1106Ser)
c.2129-348C>G (n.2129-348C>G)
n.3390C>G
n.3598C>G
c.2807C>G (p.Thr936Ser)
c.1832C>G (p.Thr611Ser)
c.2546C>G (p.Thr849Ser)
c.3524C>G (p.Thr1175Ser)
n.3342C>G
n.3550C>G
1g.197435252C>TCA344047542CRB1c.3389C>T (p.Thr1130Ile)
c.2270C>T (p.Thr757Ile)
c.1532C>T (p.Thr511Ile)
c.3053C>T (p.Thr1018Ile)
c.3317C>T (p.Thr1106Ile)
c.2129-348C>T (n.2129-348C>T)
n.3390C>T
n.3598C>T
c.2807C>T (p.Thr936Ile)
c.1832C>T (p.Thr611Ile)
c.2546C>T (p.Thr849Ile)
c.3524C>T (p.Thr1175Ile)
n.3342C>T
n.3550C>T
1g.197435253C>ACA422809301CRB1c.3390C>A (p.Thr1130=)
c.2271C>A (p.Thr757=)
c.1533C>A (p.Thr511=)
c.3054C>A (p.Thr1018=)
c.3318C>A (p.Thr1106=)
c.2129-347C>A (n.2129-347C>A)
n.3391C>A
n.3599C>A
c.2808C>A (p.Thr936=)
c.1833C>A (p.Thr611=)
c.2547C>A (p.Thr849=)
c.3525C>A (p.Thr1175=)
n.3343C>A
n.3551C>A
 gnomAD v4
1g.197435253C>GCA422809303CRB1c.3390C>G (p.Thr1130=)
c.2271C>G (p.Thr757=)
c.1533C>G (p.Thr511=)
c.3054C>G (p.Thr1018=)
c.3318C>G (p.Thr1106=)
c.2129-347C>G (n.2129-347C>G)
n.3391C>G
n.3599C>G
c.2808C>G (p.Thr936=)
c.1833C>G (p.Thr611=)
c.2547C>G (p.Thr849=)
c.3525C>G (p.Thr1175=)
n.3343C>G
n.3551C>G
1g.197435253C>TCA422809304CRB1c.3390C>T (p.Thr1130=)
c.2271C>T (p.Thr757=)
c.1533C>T (p.Thr511=)
c.3054C>T (p.Thr1018=)
c.3318C>T (p.Thr1106=)
c.2129-347C>T (n.2129-347C>T)
n.3391C>T
n.3599C>T
c.2808C>T (p.Thr936=)
c.1833C>T (p.Thr611=)
c.2547C>T (p.Thr849=)
c.3525C>T (p.Thr1175=)
n.3343C>T
n.3551C>T
1g.197435254A=CA1218068855CRB1c.3391A= (p.Asn1131=)
c.2272A= (p.Asn758=)
c.1534A= (p.Asn512=)
c.3055A= (p.Asn1019=)
c.3319A= (p.Asn1107=)
c.2129-346A= (n.2129-346A=)
n.3392A=
n.3600A=
c.2809A= (p.Asn937=)
c.1834A= (p.Asn612=)
c.2548A= (p.Asn850=)
c.3526A= (p.Asn1176=)
n.3344A=
n.3552A=
1g.197435254A>CCA1312326CRB1c.3391A>C (p.Asn1131His)
c.2272A>C (p.Asn758His)
c.1534A>C (p.Asn512His)
c.3055A>C (p.Asn1019His)
c.3319A>C (p.Asn1107His)
c.2129-346A>C (n.2129-346A>C)
n.3392A>C
n.3600A>C
c.2809A>C (p.Asn937His)
c.1834A>C (p.Asn612His)
c.2548A>C (p.Asn850His)
c.3526A>C (p.Asn1176His)
n.3344A>C
n.3552A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435254A>GCA344047548CRB1c.3391A>G (p.Asn1131Asp)
c.2272A>G (p.Asn758Asp)
c.1534A>G (p.Asn512Asp)
c.3055A>G (p.Asn1019Asp)
c.3319A>G (p.Asn1107Asp)
c.2129-346A>G (n.2129-346A>G)
n.3392A>G
n.3600A>G
c.2809A>G (p.Asn937Asp)
c.1834A>G (p.Asn612Asp)
c.2548A>G (p.Asn850Asp)
c.3526A>G (p.Asn1176Asp)
n.3344A>G
n.3552A>G
1g.197435254A>TCA344047551CRB1c.3391A>T (p.Asn1131Tyr)
c.2272A>T (p.Asn758Tyr)
c.1534A>T (p.Asn512Tyr)
c.3055A>T (p.Asn1019Tyr)
c.3319A>T (p.Asn1107Tyr)
c.2129-346A>T (n.2129-346A>T)
n.3392A>T
n.3600A>T
c.2809A>T (p.Asn937Tyr)
c.1834A>T (p.Asn612Tyr)
c.2548A>T (p.Asn850Tyr)
c.3526A>T (p.Asn1176Tyr)
n.3344A>T
n.3552A>T
1g.197435255A>CCA344047553CRB1c.3392A>C (p.Asn1131Thr)
c.2273A>C (p.Asn758Thr)
c.1535A>C (p.Asn512Thr)
c.3056A>C (p.Asn1019Thr)
c.3320A>C (p.Asn1107Thr)
c.2129-345A>C (n.2129-345A>C)
n.3393A>C
n.3601A>C
c.2810A>C (p.Asn937Thr)
c.1835A>C (p.Asn612Thr)
c.2549A>C (p.Asn850Thr)
c.3527A>C (p.Asn1176Thr)
n.3345A>C
n.3553A>C
1g.197435255A>GCA344047555CRB1c.3392A>G (p.Asn1131Ser)
c.2273A>G (p.Asn758Ser)
c.1535A>G (p.Asn512Ser)
c.3056A>G (p.Asn1019Ser)
c.3320A>G (p.Asn1107Ser)
c.2129-345A>G (n.2129-345A>G)
n.3393A>G
n.3601A>G
c.2810A>G (p.Asn937Ser)
c.1835A>G (p.Asn612Ser)
c.2549A>G (p.Asn850Ser)
c.3527A>G (p.Asn1176Ser)
n.3345A>G
n.3553A>G
 gnomAD v4
1g.197435255A>TCA344047559CRB1c.3392A>T (p.Asn1131Ile)
c.2273A>T (p.Asn758Ile)
c.1535A>T (p.Asn512Ile)
c.3056A>T (p.Asn1019Ile)
c.3320A>T (p.Asn1107Ile)
c.2129-345A>T (n.2129-345A>T)
n.3393A>T
n.3601A>T
c.2810A>T (p.Asn937Ile)
c.1835A>T (p.Asn612Ile)
c.2549A>T (p.Asn850Ile)
c.3527A>T (p.Asn1176Ile)
n.3345A>T
n.3553A>T
1g.197435256T>ACA344047561CRB1c.3393T>A (p.Asn1131Lys)
c.2274T>A (p.Asn758Lys)
c.1536T>A (p.Asn512Lys)
c.3057T>A (p.Asn1019Lys)
c.3321T>A (p.Asn1107Lys)
c.2129-344T>A (n.2129-344T>A)
n.3394T>A
n.3602T>A
c.2811T>A (p.Asn937Lys)
c.1836T>A (p.Asn612Lys)
c.2550T>A (p.Asn850Lys)
c.3528T>A (p.Asn1176Lys)
n.3346T>A
n.3554T>A
1g.197435256T>CCA1312327CRB1c.3393T>C (p.Asn1131=)
c.2274T>C (p.Asn758=)
c.1536T>C (p.Asn512=)
c.3057T>C (p.Asn1019=)
c.3321T>C (p.Asn1107=)
c.2129-344T>C (n.2129-344T>C)
n.3394T>C
n.3602T>C
c.2811T>C (p.Asn937=)
c.1836T>C (p.Asn612=)
c.2550T>C (p.Asn850=)
c.3528T>C (p.Asn1176=)
n.3346T>C
n.3554T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435256T>GCA344047564CRB1c.3393T>G (p.Asn1131Lys)
c.2274T>G (p.Asn758Lys)
c.1536T>G (p.Asn512Lys)
c.3057T>G (p.Asn1019Lys)
c.3321T>G (p.Asn1107Lys)
c.2129-344T>G (n.2129-344T>G)
n.3394T>G
n.3602T>G
c.2811T>G (p.Asn937Lys)
c.1836T>G (p.Asn612Lys)
c.2550T>G (p.Asn850Lys)
c.3528T>G (p.Asn1176Lys)
n.3346T>G
n.3554T>G
1g.197435256T=CA1142372549CRB1c.3393T= (p.Asn1131=)
c.2274T= (p.Asn758=)
c.1536T= (p.Asn512=)
c.3057T= (p.Asn1019=)
c.3321T= (p.Asn1107=)
c.2129-344T= (n.2129-344T=)
n.3394T=
n.3602T=
c.2811T= (p.Asn937=)
c.1836T= (p.Asn612=)
c.2550T= (p.Asn850=)
c.3528T= (p.Asn1176=)
n.3346T=
n.3554T=
1g.197435258_197441676delCA1139656482CRB1c.3395_3879-490del
c.2276_2760-490del
c.1538_*2997del
c.3059_3543-490del
c.3323_3807-490del
c.2129-342_2271-490del
n.3396_3880-490del
n.3604_4088-490del
c.3395_3878+3001del
c.2813_3297-490del
c.1838_2322-490del
c.2552_3036-490del
c.3530_4014-490del
n.3348_3832-490del
n.3556_4040-490del
 ClinVar
1g.197435257T>ACA344047567CRB1c.3394T>A (p.Ser1132Thr)
c.2275T>A (p.Ser759Thr)
c.1537T>A (p.Ser513Thr)
c.3058T>A (p.Ser1020Thr)
c.3322T>A (p.Ser1108Thr)
c.2129-343T>A (n.2129-343T>A)
n.3395T>A
n.3603T>A
c.2812T>A (p.Ser938Thr)
c.1837T>A (p.Ser613Thr)
c.2551T>A (p.Ser851Thr)
c.3529T>A (p.Ser1177Thr)
n.3347T>A
n.3555T>A
1g.197435257T>CCA344047569CRB1c.3394T>C (p.Ser1132Pro)
c.2275T>C (p.Ser759Pro)
c.1537T>C (p.Ser513Pro)
c.3058T>C (p.Ser1020Pro)
c.3322T>C (p.Ser1108Pro)
c.2129-343T>C (n.2129-343T>C)
n.3395T>C
n.3603T>C
c.2812T>C (p.Ser938Pro)
c.1837T>C (p.Ser613Pro)
c.2551T>C (p.Ser851Pro)
c.3529T>C (p.Ser1177Pro)
n.3347T>C
n.3555T>C
1g.197435257T>GCA344047571CRB1c.3394T>G (p.Ser1132Ala)
c.2275T>G (p.Ser759Ala)
c.1537T>G (p.Ser513Ala)
c.3058T>G (p.Ser1020Ala)
c.3322T>G (p.Ser1108Ala)
c.2129-343T>G (n.2129-343T>G)
n.3395T>G
n.3603T>G
c.2812T>G (p.Ser938Ala)
c.1837T>G (p.Ser613Ala)
c.2551T>G (p.Ser851Ala)
c.3529T>G (p.Ser1177Ala)
n.3347T>G
n.3555T>G
1g.197435258C>ACA344047576CRB1c.3395C>A (p.Ser1132Ter)
c.2276C>A (p.Ser759Ter)
c.1538C>A (p.Ser513Ter)
c.3059C>A (p.Ser1020Ter)
c.3323C>A (p.Ser1108Ter)
c.2129-342C>A (n.2129-342C>A)
n.3396C>A
n.3604C>A
c.2813C>A (p.Ser938Ter)
c.1838C>A (p.Ser613Ter)
c.2552C>A (p.Ser851Ter)
c.3530C>A (p.Ser1177Ter)
n.3348C>A
n.3556C>A
1g.197435258C>GCA344047577CRB1c.3395C>G (p.Ser1132Ter)
c.2276C>G (p.Ser759Ter)
c.1538C>G (p.Ser513Ter)
c.3059C>G (p.Ser1020Ter)
c.3323C>G (p.Ser1108Ter)
c.2129-342C>G (n.2129-342C>G)
n.3396C>G
n.3604C>G
c.2813C>G (p.Ser938Ter)
c.1838C>G (p.Ser613Ter)
c.2552C>G (p.Ser851Ter)
c.3530C>G (p.Ser1177Ter)
n.3348C>G
n.3556C>G
1g.197435258C>TCA344047573CRB1c.3395C>T (p.Ser1132Leu)
c.2276C>T (p.Ser759Leu)
c.1538C>T (p.Ser513Leu)
c.3059C>T (p.Ser1020Leu)
c.3323C>T (p.Ser1108Leu)
c.2129-342C>T (n.2129-342C>T)
n.3396C>T
n.3604C>T
c.2813C>T (p.Ser938Leu)
c.1838C>T (p.Ser613Leu)
c.2552C>T (p.Ser851Leu)
c.3530C>T (p.Ser1177Leu)
n.3348C>T
n.3556C>T
1g.197435259A=CA1218068856CRB1c.3396A= (p.Ser1132=)
c.2277A= (p.Ser759=)
c.1539A= (p.Ser513=)
c.3060A= (p.Ser1020=)
c.3324A= (p.Ser1108=)
c.2129-341A= (n.2129-341A=)
n.3397A=
n.3605A=
c.2814A= (p.Ser938=)
c.1839A= (p.Ser613=)
c.2553A= (p.Ser851=)
c.3531A= (p.Ser1177=)
n.3349A=
n.3557A=
1g.197435259A>CCA422809315CRB1c.3396A>C (p.Ser1132=)
c.2277A>C (p.Ser759=)
c.1539A>C (p.Ser513=)
c.3060A>C (p.Ser1020=)
c.3324A>C (p.Ser1108=)
c.2129-341A>C (n.2129-341A>C)
n.3397A>C
n.3605A>C
c.2814A>C (p.Ser938=)
c.1839A>C (p.Ser613=)
c.2553A>C (p.Ser851=)
c.3531A>C (p.Ser1177=)
n.3349A>C
n.3557A>C
1g.197435259A>GCA422809316CRB1c.3396A>G (p.Ser1132=)
c.2277A>G (p.Ser759=)
c.1539A>G (p.Ser513=)
c.3060A>G (p.Ser1020=)
c.3324A>G (p.Ser1108=)
c.2129-341A>G (n.2129-341A>G)
n.3397A>G
n.3605A>G
c.2814A>G (p.Ser938=)
c.1839A>G (p.Ser613=)
c.2553A>G (p.Ser851=)
c.3531A>G (p.Ser1177=)
n.3349A>G
n.3557A>G
 dbSNP gnomAD v2 gnomAD v4
1g.197435259A>TCA422809318CRB1c.3396A>T (p.Ser1132=)
c.2277A>T (p.Ser759=)
c.1539A>T (p.Ser513=)
c.3060A>T (p.Ser1020=)
c.3324A>T (p.Ser1108=)
c.2129-341A>T (n.2129-341A>T)
n.3397A>T
n.3605A>T
c.2814A>T (p.Ser938=)
c.1839A>T (p.Ser613=)
c.2553A>T (p.Ser851=)
c.3531A>T (p.Ser1177=)
n.3349A>T
n.3557A>T
 ClinVar dbSNP
1g.197435260G>ACA1312328CRB1c.3397G>A (p.Val1133Met)
c.2278G>A (p.Val760Met)
c.1540G>A (p.Val514Met)
c.3061G>A (p.Val1021Met)
c.3325G>A (p.Val1109Met)
c.2129-340G>A (n.2129-340G>A)
n.3398G>A
n.3606G>A
c.2815G>A (p.Val939Met)
c.1840G>A (p.Val614Met)
c.2554G>A (p.Val852Met)
c.3532G>A (p.Val1178Met)
n.3350G>A
n.3558G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435260G>CCA344047578CRB1c.3397G>C (p.Val1133Leu)
c.2278G>C (p.Val760Leu)
c.1540G>C (p.Val514Leu)
c.3061G>C (p.Val1021Leu)
c.3325G>C (p.Val1109Leu)
c.2129-340G>C (n.2129-340G>C)
n.3398G>C
n.3606G>C
c.2815G>C (p.Val939Leu)
c.1840G>C (p.Val614Leu)
c.2554G>C (p.Val852Leu)
c.3532G>C (p.Val1178Leu)
n.3350G>C
n.3558G>C
1g.197435260G=CA1141518269CRB1c.3397G= (p.Val1133=)
c.2278G= (p.Val760=)
c.1540G= (p.Val514=)
c.3061G= (p.Val1021=)
c.3325G= (p.Val1109=)
c.2129-340G= (n.2129-340G=)
n.3398G=
n.3606G=
c.2815G= (p.Val939=)
c.1840G= (p.Val614=)
c.2554G= (p.Val852=)
c.3532G= (p.Val1178=)
n.3350G=
n.3558G=
1g.197435260G>TCA344047580CRB1c.3397G>T (p.Val1133Leu)
c.2278G>T (p.Val760Leu)
c.1540G>T (p.Val514Leu)
c.3061G>T (p.Val1021Leu)
c.3325G>T (p.Val1109Leu)
c.2129-340G>T (n.2129-340G>T)
n.3398G>T
n.3606G>T
c.2815G>T (p.Val939Leu)
c.1840G>T (p.Val614Leu)
c.2554G>T (p.Val852Leu)
c.3532G>T (p.Val1178Leu)
n.3350G>T
n.3558G>T
1g.197435261T>ACA344047582CRB1c.3398T>A (p.Val1133Glu)
c.2279T>A (p.Val760Glu)
c.1541T>A (p.Val514Glu)
c.3062T>A (p.Val1021Glu)
c.3326T>A (p.Val1109Glu)
c.2129-339T>A (n.2129-339T>A)
n.3399T>A
n.3607T>A
c.2816T>A (p.Val939Glu)
c.1841T>A (p.Val614Glu)
c.2555T>A (p.Val852Glu)
c.3533T>A (p.Val1178Glu)
n.3351T>A
n.3559T>A
1g.197435261T>CCA1312329CRB1c.3398T>C (p.Val1133Ala)
c.2279T>C (p.Val760Ala)
c.1541T>C (p.Val514Ala)
c.3062T>C (p.Val1021Ala)
c.3326T>C (p.Val1109Ala)
c.2129-339T>C (n.2129-339T>C)
n.3399T>C
n.3607T>C
c.2816T>C (p.Val939Ala)
c.1841T>C (p.Val614Ala)
c.2555T>C (p.Val852Ala)
c.3533T>C (p.Val1178Ala)
n.3351T>C
n.3559T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435261T>GCA344047585CRB1c.3398T>G (p.Val1133Gly)
c.2279T>G (p.Val760Gly)
c.1541T>G (p.Val514Gly)
c.3062T>G (p.Val1021Gly)
c.3326T>G (p.Val1109Gly)
c.2129-339T>G (n.2129-339T>G)
n.3399T>G
n.3607T>G
c.2816T>G (p.Val939Gly)
c.1841T>G (p.Val614Gly)
c.2555T>G (p.Val852Gly)
c.3533T>G (p.Val1178Gly)
n.3351T>G
n.3559T>G
1g.197435261T=CA1218068857CRB1c.3398T= (p.Val1133=)
c.2279T= (p.Val760=)
c.1541T= (p.Val514=)
c.3062T= (p.Val1021=)
c.3326T= (p.Val1109=)
c.2129-339T= (n.2129-339T=)
n.3399T=
n.3607T=
c.2816T= (p.Val939=)
c.1841T= (p.Val614=)
c.2555T= (p.Val852=)
c.3533T= (p.Val1178=)
n.3351T=
n.3559T=
1g.197435262G>ACA422809321CRB1c.3399G>A (p.Val1133=)
c.2280G>A (p.Val760=)
c.1542G>A (p.Val514=)
c.3063G>A (p.Val1021=)
c.3327G>A (p.Val1109=)
c.2129-338G>A (n.2129-338G>A)
n.3400G>A
n.3608G>A
c.2817G>A (p.Val939=)
c.1842G>A (p.Val614=)
c.2556G>A (p.Val852=)
c.3534G>A (p.Val1178=)
n.3352G>A
n.3560G>A
 gnomAD v4
1g.197435262G>CCA422809323CRB1c.3399G>C (p.Val1133=)
c.2280G>C (p.Val760=)
c.1542G>C (p.Val514=)
c.3063G>C (p.Val1021=)
c.3327G>C (p.Val1109=)
c.2129-338G>C (n.2129-338G>C)
n.3400G>C
n.3608G>C
c.2817G>C (p.Val939=)
c.1842G>C (p.Val614=)
c.2556G>C (p.Val852=)
c.3534G>C (p.Val1178=)
n.3352G>C
n.3560G>C
1g.197435262G=CA1142138077CRB1c.3399G= (p.Val1133=)
c.2280G= (p.Val760=)
c.1542G= (p.Val514=)
c.3063G= (p.Val1021=)
c.3327G= (p.Val1109=)
c.2129-338G= (n.2129-338G=)
n.3400G=
n.3608G=
c.2817G= (p.Val939=)
c.1842G= (p.Val614=)
c.2556G= (p.Val852=)
c.3534G= (p.Val1178=)
n.3352G=
n.3560G=
1g.197435262G>TCA1312330CRB1c.3399G>T (p.Val1133=)
c.2280G>T (p.Val760=)
c.1542G>T (p.Val514=)
c.3063G>T (p.Val1021=)
c.3327G>T (p.Val1109=)
c.2129-338G>T (n.2129-338G>T)
n.3400G>T
n.3608G>T
c.2817G>T (p.Val939=)
c.1842G>T (p.Val614=)
c.2556G>T (p.Val852=)
c.3534G>T (p.Val1178=)
n.3352G>T
n.3560G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.197435263G>ACA344047588CRB1c.3400G>A (p.Val1134Ile)
c.2281G>A (p.Val761Ile)
c.1543G>A (p.Val515Ile)
c.3064G>A (p.Val1022Ile)
c.3328G>A (p.Val1110Ile)
c.2129-337G>A (n.2129-337G>A)
n.3401G>A
n.3609G>A
c.2818G>A (p.Val940Ile)
c.1843G>A (p.Val615Ile)
c.2557G>A (p.Val853Ile)
c.3535G>A (p.Val1179Ile)
n.3353G>A
n.3561G>A
1g.197435263G>CCA35907608CRB1c.3400G>C (p.Val1134Leu)
c.2281G>C (p.Val761Leu)
c.1543G>C (p.Val515Leu)
c.3064G>C (p.Val1022Leu)
c.3328G>C (p.Val1110Leu)
c.2129-337G>C (n.2129-337G>C)
n.3401G>C
n.3609G>C
c.2818G>C (p.Val940Leu)
c.1843G>C (p.Val615Leu)
c.2557G>C (p.Val853Leu)
c.3535G>C (p.Val1179Leu)
n.3353G>C
n.3561G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.197435263G=CA1218068858CRB1c.3400G= (p.Val1134=)
c.2281G= (p.Val761=)
c.1543G= (p.Val515=)
c.3064G= (p.Val1022=)
c.3328G= (p.Val1110=)
c.2129-337G= (n.2129-337G=)
n.3401G=
n.3609G=
c.2818G= (p.Val940=)
c.1843G= (p.Val615=)
c.2557G= (p.Val853=)
c.3535G= (p.Val1179=)
n.3353G=
n.3561G=
1g.197435263G>TCA344047589CRB1c.3400G>T (p.Val1134Phe)
c.2281G>T (p.Val761Phe)
c.1543G>T (p.Val515Phe)
c.3064G>T (p.Val1022Phe)
c.3328G>T (p.Val1110Phe)
c.2129-337G>T (n.2129-337G>T)
n.3401G>T
n.3609G>T
c.2818G>T (p.Val940Phe)
c.1843G>T (p.Val615Phe)
c.2557G>T (p.Val853Phe)
c.3535G>T (p.Val1179Phe)
n.3353G>T
n.3561G>T
1g.197435264T>ACA344047590CRB1c.3401T>A (p.Val1134Asp)
c.2282T>A (p.Val761Asp)
c.1544T>A (p.Val515Asp)
c.3065T>A (p.Val1022Asp)
c.3329T>A (p.Val1110Asp)
c.2129-336T>A (n.2129-336T>A)
n.3402T>A
n.3610T>A
c.2819T>A (p.Val940Asp)
c.1844T>A (p.Val615Asp)
c.2558T>A (p.Val853Asp)
c.3536T>A (p.Val1179Asp)
n.3354T>A
n.3562T>A
1g.197435264T>CCA344047592CRB1c.3401T>C (p.Val1134Ala)
c.2282T>C (p.Val761Ala)
c.1544T>C (p.Val515Ala)
c.3065T>C (p.Val1022Ala)
c.3329T>C (p.Val1110Ala)
c.2129-336T>C (n.2129-336T>C)
n.3402T>C
n.3610T>C
c.2819T>C (p.Val940Ala)
c.1844T>C (p.Val615Ala)
c.2558T>C (p.Val853Ala)
c.3536T>C (p.Val1179Ala)
n.3354T>C
n.3562T>C
1g.197435264T>GCA344047595CRB1c.3401T>G (p.Val1134Gly)
c.2282T>G (p.Val761Gly)
c.1544T>G (p.Val515Gly)
c.3065T>G (p.Val1022Gly)
c.3329T>G (p.Val1110Gly)
c.2129-336T>G (n.2129-336T>G)
n.3402T>G
n.3610T>G
c.2819T>G (p.Val940Gly)
c.1844T>G (p.Val615Gly)
c.2558T>G (p.Val853Gly)
c.3536T>G (p.Val1179Gly)
n.3354T>G
n.3562T>G
1g.197435265C>ACA422809435CRB1c.3402C>A (p.Val1134=)
c.2283C>A (p.Val761=)
c.1545C>A (p.Val515=)
c.3066C>A (p.Val1022=)
c.3330C>A (p.Val1110=)
c.2129-335C>A (n.2129-335C>A)
n.3403C>A
n.3611C>A
c.2820C>A (p.Val940=)
c.1845C>A (p.Val615=)
c.2559C>A (p.Val853=)
c.3537C>A (p.Val1179=)
n.3355C>A
n.3563C>A
1g.197435265C>GCA422809436CRB1c.3402C>G (p.Val1134=)
c.2283C>G (p.Val761=)
c.1545C>G (p.Val515=)
c.3066C>G (p.Val1022=)
c.3330C>G (p.Val1110=)
c.2129-335C>G (n.2129-335C>G)
n.3403C>G
n.3611C>G
c.2820C>G (p.Val940=)
c.1845C>G (p.Val615=)
c.2559C>G (p.Val853=)
c.3537C>G (p.Val1179=)
n.3355C>G
n.3563C>G
1g.197435265C>TCA422809434CRB1c.3402C>T (p.Val1134=)
c.2283C>T (p.Val761=)
c.1545C>T (p.Val515=)
c.3066C>T (p.Val1022=)
c.3330C>T (p.Val1110=)
c.2129-335C>T (n.2129-335C>T)
n.3403C>T
n.3611C>T
c.2820C>T (p.Val940=)
c.1845C>T (p.Val615=)
c.2559C>T (p.Val853=)
c.3537C>T (p.Val1179=)
n.3355C>T
n.3563C>T
 COSMIC
1g.197435266A>CCA344047601CRB1c.3403A>C (p.Thr1135Pro)
c.2284A>C (p.Thr762Pro)
c.1546A>C (p.Thr516Pro)
c.3067A>C (p.Thr1023Pro)
c.3331A>C (p.Thr1111Pro)
c.2129-334A>C (n.2129-334A>C)
n.3404A>C
n.3612A>C
c.2821A>C (p.Thr941Pro)
c.1846A>C (p.Thr616Pro)
c.2560A>C (p.Thr854Pro)
c.3538A>C (p.Thr1180Pro)
n.3356A>C
n.3564A>C
1g.197435266A>GCA344047604CRB1c.3403A>G (p.Thr1135Ala)
c.2284A>G (p.Thr762Ala)
c.1546A>G (p.Thr516Ala)
c.3067A>G (p.Thr1023Ala)
c.3331A>G (p.Thr1111Ala)
c.2129-334A>G (n.2129-334A>G)
n.3404A>G
n.3612A>G
c.2821A>G (p.Thr941Ala)
c.1846A>G (p.Thr616Ala)
c.2560A>G (p.Thr854Ala)
c.3538A>G (p.Thr1180Ala)
n.3356A>G
n.3564A>G
1g.197435266A>TCA344047598CRB1c.3403A>T (p.Thr1135Ser)
c.2284A>T (p.Thr762Ser)
c.1546A>T (p.Thr516Ser)
c.3067A>T (p.Thr1023Ser)
c.3331A>T (p.Thr1111Ser)
c.2129-334A>T (n.2129-334A>T)
n.3404A>T
n.3612A>T
c.2821A>T (p.Thr941Ser)
c.1846A>T (p.Thr616Ser)
c.2560A>T (p.Thr854Ser)
c.3538A>T (p.Thr1180Ser)
n.3356A>T
n.3564A>T
1g.197435267C>ACA344047607CRB1c.3404C>A (p.Thr1135Asn)
c.2285C>A (p.Thr762Asn)
c.1547C>A (p.Thr516Asn)
c.3068C>A (p.Thr1023Asn)
c.3332C>A (p.Thr1111Asn)
c.2129-333C>A (n.2129-333C>A)
n.3405C>A
n.3613C>A
c.2822C>A (p.Thr941Asn)
c.1847C>A (p.Thr616Asn)
c.2561C>A (p.Thr854Asn)
c.3539C>A (p.Thr1180Asn)
n.3357C>A
n.3565C>A
1g.197435267C>GCA344047610CRB1c.3404C>G (p.Thr1135Ser)
c.2285C>G (p.Thr762Ser)
c.1547C>G (p.Thr516Ser)
c.3068C>G (p.Thr1023Ser)
c.3332C>G (p.Thr1111Ser)
c.2129-333C>G (n.2129-333C>G)
n.3405C>G
n.3613C>G
c.2822C>G (p.Thr941Ser)
c.1847C>G (p.Thr616Ser)
c.2561C>G (p.Thr854Ser)
c.3539C>G (p.Thr1180Ser)
n.3357C>G
n.3565C>G
1g.197435267C>TCA344047613CRB1c.3404C>T (p.Thr1135Ile)
c.2285C>T (p.Thr762Ile)
c.1547C>T (p.Thr516Ile)
c.3068C>T (p.Thr1023Ile)
c.3332C>T (p.Thr1111Ile)
c.2129-333C>T (n.2129-333C>T)
n.3405C>T
n.3613C>T
c.2822C>T (p.Thr941Ile)
c.1847C>T (p.Thr616Ile)
c.2561C>T (p.Thr854Ile)
c.3539C>T (p.Thr1180Ile)
n.3357C>T
n.3565C>T
1g.197435268T>ACA422809440CRB1c.3405T>A (p.Thr1135=)
c.2286T>A (p.Thr762=)
c.1548T>A (p.Thr516=)
c.3069T>A (p.Thr1023=)
c.3333T>A (p.Thr1111=)
c.2129-332T>A (n.2129-332T>A)
n.3406T>A
n.3614T>A
c.2823T>A (p.Thr941=)
c.1848T>A (p.Thr616=)
c.2562T>A (p.Thr854=)
c.3540T>A (p.Thr1180=)
n.3358T>A
n.3566T>A
1g.197435268T>CCA1312331CRB1c.3405T>C (p.Thr1135=)
c.2286T>C (p.Thr762=)
c.1548T>C (p.Thr516=)
c.3069T>C (p.Thr1023=)
c.3333T>C (p.Thr1111=)
c.2129-332T>C (n.2129-332T>C)
n.3406T>C
n.3614T>C
c.2823T>C (p.Thr941=)
c.1848T>C (p.Thr616=)
c.2562T>C (p.Thr854=)
c.3540T>C (p.Thr1180=)
n.3358T>C
n.3566T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.197435268T>GCA422809439CRB1c.3405T>G (p.Thr1135=)
c.2286T>G (p.Thr762=)
c.1548T>G (p.Thr516=)
c.3069T>G (p.Thr1023=)
c.3333T>G (p.Thr1111=)
c.2129-332T>G (n.2129-332T>G)
n.3406T>G
n.3614T>G
c.2823T>G (p.Thr941=)
c.1848T>G (p.Thr616=)
c.2562T>G (p.Thr854=)
c.3540T>G (p.Thr1180=)
n.3358T>G
n.3566T>G
1g.197435268T=CA1218068859CRB1c.3405T= (p.Thr1135=)
c.2286T= (p.Thr762=)
c.1548T= (p.Thr516=)
c.3069T= (p.Thr1023=)
c.3333T= (p.Thr1111=)
c.2129-332T= (n.2129-332T=)
n.3406T=
n.3614T=
c.2823T= (p.Thr941=)
c.1848T= (p.Thr616=)
c.2562T= (p.Thr854=)
c.3540T= (p.Thr1180=)
n.3358T=
n.3566T=

Number of alleles fetched