Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197435170G>A | CA117711 | CRB1 | c.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 |
1 | g.197435170G>C | CA344047037 | CRB1 | c.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 |
1 | g.197435170G= | CA1140762964 | CRB1 | c.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= | |
1 | g.197435170G>T | CA344047038 | CRB1 | c.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 | |
1 | g.197435171G>A | CA344047039 | CRB1 | c.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 | |
1 | g.197435171G>C | CA344047040 | CRB1 | c.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 | |
1 | g.197435171G= | CA1218068823 | CRB1 | c.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= | |
1 | g.197435171G>T | CA344047041 | CRB1 | c.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 |
1 | g.197435172A>C | CA422809135 | CRB1 | c.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 | |
1 | g.197435172A>G | CA422809137 | CRB1 | c.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 |
1 | g.197435172A>T | CA422809136 | CRB1 | c.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 | |
1 | g.197435173G>A | CA35907397 | CRB1 | c.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 |
1 | g.197435173G>C | CA344047042 | CRB1 | c.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 | |
1 | g.197435173G= | CA1218068824 | CRB1 | c.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= | |
1 | g.197435173G>T | CA344047043 | CRB1 | c.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 | |
1 | g.197435174G>A | CA344047044 | CRB1 | c.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 |
1 | g.197435174G>C | CA344047045 | CRB1 | c.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 | |
1 | g.197435174G= | CA1218068825 | CRB1 | c.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= | |
1 | g.197435174G>T | CA344047046 | CRB1 | c.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 | |
1 | g.197435175C>A | CA422809143 | CRB1 | c.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 | |
1 | g.197435175C>G | CA422809144 | CRB1 | c.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 |
1 | g.197435175C>T | CA422809145 | CRB1 | c.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 |
1 | g.197435176A= | CA1218068826 | CRB1 | c.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= | |
1 | g.197435176A>C | CA344047048 | CRB1 | c.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 | |
1 | g.197435176A>G | CA1312315 | CRB1 | c.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 |
1 | g.197435176A>T | CA344047047 | CRB1 | c.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 | |
1 | g.197435177T>A | CA344047049 | CRB1 | c.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 | |
1 | g.197435177T>C | CA344047050 | CRB1 | c.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 | |
1 | g.197435177T>G | CA344047051 | CRB1 | c.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 | |
1 | g.197435179_197435193dup | CA1218068827 | CRB1 | c.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 |
1 | g.197435178T>A | CA422809152 | CRB1 | c.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 | |
1 | g.197435178T>C | CA422809153 | CRB1 | c.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 | |
1 | g.197435178T>G | CA344047052 | CRB1 | c.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 | |
1 | g.197435179T>A | CA344047055 | CRB1 | c.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 | |
1 | g.197435179T>C | CA344047054 | CRB1 | c.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 | |
1 | g.197435179T>G | CA344047053 | CRB1 | c.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 | |
1 | g.197435180A= | CA1141480371 | CRB1 | c.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= | |
1 | g.197435180A>C | CA344047056 | CRB1 | c.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 | |
1 | g.197435180A>G | CA248281 | CRB1 | c.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 |
1 | g.197435180A>T | CA1312316 | CRB1 | c.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 |
1 | g.197435181T>A | CA344047057 | CRB1 | c.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 | |
1 | g.197435181T>C | CA1312317 | CRB1 | c.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 |
1 | g.197435181T>G | CA344047058 | CRB1 | c.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 |
1 | g.197435181T= | CA1142820985 | CRB1 | c.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= | |
1 | g.197435184_197435187del | CA2649670644 | CRB1 | c.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 |
1 | g.197435182C>A | CA344047059 | CRB1 | c.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 | |
1 | g.197435182C>G | CA344047061 | CRB1 | c.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 | |
1 | g.197435182C>T | CA344047060 | CRB1 | c.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 |
1 | g.197435183T>A | CA344047062 | CRB1 | c.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 | |
1 | g.197435183T>C | CA228036 | CRB1 | c.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 |
1 | g.197435183T>G | CA228037 | CRB1 | c.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 |
1 | g.197435183T= | CA1140762965 | CRB1 | c.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= | |
1 | g.197435184C>A | CA422809163 | CRB1 | c.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 | |
1 | g.197435184C>G | CA422809164 | CRB1 | c.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 |
1 | g.197435184C>T | CA422809165 | CRB1 | c.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 | |
1 | g.197435185T>A | CA344047065 | CRB1 | c.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 | |
1 | g.197435185T>C | CA344047068 | CRB1 | c.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 | |
1 | g.197435185T>G | CA344047067 | CRB1 | c.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 | |
1 | g.197435186C>A | CA344047071 | CRB1 | c.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 | |
1 | g.197435186C>G | CA344047074 | CRB1 | c.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 | |
1 | g.197435186C>T | CA344047073 | CRB1 | c.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 |
1 | g.197435187T>A | CA422809175 | CRB1 | c.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 | |
1 | g.197435187T>C | CA422809174 | CRB1 | c.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 |
1 | g.197435187T>G | CA422809173 | CRB1 | c.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 | |
1 | g.197435187T= | CA1218068828 | CRB1 | c.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= | |
1 | g.197435188dup | CA2499214383 | CRB1 | c.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 |
1 | g.197435188T>A | CA344047075 | CRB1 | c.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 | |
1 | g.197435188T>C | CA344047076 | CRB1 | c.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 |
1 | g.197435188T>G | CA344047077 | CRB1 | c.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 | |
1 | g.197435188_197435189del | CA2573131450 | CRB1 | c.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 |
1 | g.197435189A>C | CA344047079 | CRB1 | c.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 | |
1 | g.197435189A>G | CA344047080 | CRB1 | c.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 | |
1 | g.197435189A>T | CA344047082 | CRB1 | c.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 | |
1 | g.197435190C>A | CA344047084 | CRB1 | c.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 | |
1 | g.197435190C>G | CA344047086 | CRB1 | c.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 | |
1 | g.197435190C>T | CA422809181 | CRB1 | c.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 |
1 | g.197435191T>A | CA344047089 | CRB1 | c.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 | |
1 | g.197435191T>C | CA344047091 | CRB1 | c.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 | |
1 | g.197435191T>G | CA344047093 | CRB1 | c.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 | |
1 | g.197435192T>A | CA344047107 | CRB1 | c.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 | |
1 | g.197435192T>C | CA344047102 | CRB1 | c.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 | |
1 | g.197435192T>G | CA344047105 | CRB1 | c.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 |
1 | g.197435192T= | CA1218068829 | CRB1 | c.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= | |
1 | g.197435193T>A | CA344047110 | CRB1 | c.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 | |
1 | g.197435193T>C | CA422809183 | CRB1 | c.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 | |
1 | g.197435193T>G | CA344047112 | CRB1 | c.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 |
1 | g.197435193T= | CA1218068830 | CRB1 | c.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= | |
1 | g.197435194G>A | CA344047115 | CRB1 | c.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 | |
1 | g.197435194G>C | CA344047117 | CRB1 | c.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 | |
1 | g.197435194G= | CA1140762966 | CRB1 | c.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= | |
1 | g.197435194G>T | CA228038 | CRB1 | c.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 |
1 | g.197435195A>C | CA344047125 | CRB1 | c.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 | |
1 | g.197435195A>G | CA344047127 | CRB1 | c.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 | |
1 | g.197435195A>T | CA344047129 | CRB1 | c.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 | |
1 | g.197435198del | CA2831039339 | CRB1 | c.3335del (p.Asn1112MetfsTer29) c.2216del (p.Asn739MetfsTer29) c.1478del (p.Asn493MetfsTer29) c.2999del (p.Asn1000MetfsTer29) c.3263del (p.Asn1088MetfsTer29) c.2129-402del (n.2129-402del) n.3336del n.3544del c.2753del (p.Asn918MetfsTer29) c.1778del (p.Asn593MetfsTer29) c.2492del (p.Asn831MetfsTer29) c.3470del (p.Asn1157MetfsTer29) n.3288del n.3496del | |
1 | g.197435196A>C | CA344047130 | CRB1 | c.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 |
1 | g.197435196A>G | CA422809191 | CRB1 | c.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 | |
1 | g.197435196A>T | CA344047132 | CRB1 | c.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 | |
1 | g.197435197A>C | CA344047139 | CRB1 | c.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 | |
1 | g.197435197A>G | CA344047137 | CRB1 | c.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 | |
1 | g.197435197A>T | CA344047135 | CRB1 | c.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 | |
1 | g.197435198A>C | CA344047141 | CRB1 | c.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 | |
1 | g.197435198A>G | CA344047150 | CRB1 | c.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 | |
1 | g.197435198A>T | CA344047152 | CRB1 | c.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 | |
1 | g.197435199T>A | CA344047162 | CRB1 | c.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 | |
1 | g.197435199T>C | CA422809200 | CRB1 | c.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 | |
1 | g.197435199T>G | CA344047163 | CRB1 | c.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 | |
1 | g.197435200G>A | CA344047167 | CRB1 | c.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 |
1 | g.197435200G>C | CA344047169 | CRB1 | c.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 | |
1 | g.197435200G= | CA1218068831 | CRB1 | c.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= | |
1 | g.197435200G>T | CA344047170 | CRB1 | c.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 | |
1 | g.197435201T>A | CA344047172 | CRB1 | c.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 | |
1 | g.197435201T>C | CA344047174 | CRB1 | c.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 | |
1 | g.197435201T>G | CA344047176 | CRB1 | c.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 | |
1 | g.197435202T>A | CA422809203 | CRB1 | c.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 | |
1 | g.197435202T>C | CA422809206 | CRB1 | c.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 | |
1 | g.197435202T>G | CA422809207 | CRB1 | c.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 | |
1 | g.197435203C>A | CA344047183 | CRB1 | c.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 |
1 | g.197435203C>G | CA344047181 | CRB1 | c.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 | |
1 | g.197435203C>T | CA344047179 | CRB1 | c.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 |
1 | g.197435204A= | CA1218068832 | CRB1 | c.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= | |
1 | g.197435204A>C | CA344047185 | CRB1 | c.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 | |
1 | g.197435204A>G | CA344047187 | CRB1 | c.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 |
1 | g.197435204A>T | CA344047188 | CRB1 | c.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 |
1 | g.197435205T>A | CA344047190 | CRB1 | c.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 | |
1 | g.197435205T>C | CA422809211 | CRB1 | c.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 | |
1 | g.197435205T>G | CA344047192 | CRB1 | c.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 | |
1 | g.197435206G>A | CA344047195 | CRB1 | c.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 |
1 | g.197435206G>C | CA1312319 | CRB1 | c.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 |
1 | g.197435206G= | CA1218068833 | CRB1 | c.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= | |
1 | g.197435206G>T | CA1312318 | CRB1 | c.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 |
1 | g.197435206_197435215del | CA2586967866 | CRB1 | c.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 |
1 | g.197435207G>A | CA344047203 | CRB1 | c.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 |
1 | g.197435207G>C | CA344047205 | CRB1 | c.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 | |
1 | g.197435207G>T | CA344047207 | CRB1 | c.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 | |
1 | g.197435207_197435208delinsGT | CA1218068834 | CRB1 | c.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 | |
1 | g.197435208T>A | CA422809218 | CRB1 | c.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 | |
1 | g.197435208T>C | CA422809219 | CRB1 | c.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 |
1 | g.197435208T>G | CA422809217 | CRB1 | c.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 | |
1 | g.197435208T= | CA1218068835 | CRB1 | c.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= | |
1 | g.197435208_197435210delinsTTT | CA1140762967 | CRB1 | c.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 | |
1 | g.197435210del | CA228040 | CRB1 | c.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 |
1 | g.197435209T>A | CA344047217 | CRB1 | c.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 | |
1 | g.197435209T>C | CA344047215 | CRB1 | c.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 | |
1 | g.197435209T>G | CA344047213 | CRB1 | c.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 | |
1 | g.197435210T>A | CA344047221 | CRB1 | c.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 | |
1 | g.197435210T>C | CA344047224 | CRB1 | c.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 | |
1 | g.197435210T>G | CA344047222 | CRB1 | c.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 | |
1 | g.197435211C>A | CA344047227 | CRB1 | c.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 | |
1 | g.197435211C>G | CA344047229 | CRB1 | c.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 | |
1 | g.197435211C>T | CA422809222 | CRB1 | c.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 |
1 | g.197435212A= | CA1218068836 | CRB1 | c.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= | |
1 | g.197435212A>C | CA344047232 | CRB1 | c.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 | |
1 | g.197435212A>G | CA344047233 | CRB1 | c.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 |
1 | g.197435212A>T | CA344047234 | CRB1 | c.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 | |
1 | g.197435213T>A | CA344047235 | CRB1 | c.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 | |
1 | g.197435213T>C | CA344047236 | CRB1 | c.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 | |
1 | g.197435213T>G | CA344047237 | CRB1 | c.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 | |
1 | g.197435214T>A | CA422809227 | CRB1 | c.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 | |
1 | g.197435214T>C | CA422809228 | CRB1 | c.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 | |
1 | g.197435214T>G | CA344047238 | CRB1 | c.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 | |
1 | g.197435215A>C | CA344047240 | CRB1 | c.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 | |
1 | g.197435215A>G | CA344047243 | CRB1 | c.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 | |
1 | g.197435215A>T | CA344047245 | CRB1 | c.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 | |
1 | g.197435216A>C | CA344047251 | CRB1 | c.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 | |
1 | g.197435216A>G | CA344047248 | CRB1 | c.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 | |
1 | g.197435216A>T | CA344047249 | CRB1 | c.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 | |
1 | g.197435217T>A | CA344047256 | CRB1 | c.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 |
1 | g.197435217T>C | CA422809234 | CRB1 | c.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 |
1 | g.197435217T>G | CA344047260 | CRB1 | c.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 | |
1 | g.197435218A= | CA1218068837 | CRB1 | c.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= | |
1 | g.197435218A>C | CA344047264 | CRB1 | c.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 |
1 | g.197435218A>G | CA344047272 | CRB1 | c.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 | |
1 | g.197435218A>T | CA344047275 | CRB1 | c.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 | |
1 | g.197435219A= | CA1218068838 | CRB1 | c.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= | |
1 | g.197435219A>C | CA344047279 | CRB1 | c.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 |
1 | g.197435219A>G | CA344047282 | CRB1 | c.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 |
1 | g.197435219A>T | CA344047290 | CRB1 | c.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 | |
1 | g.197435220A= | CA1218068839 | CRB1 | c.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= | |
1 | g.197435220A>C | CA344047294 | CRB1 | c.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 | |
1 | g.197435220A>G | CA422809236 | CRB1 | c.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 |
1 | g.197435220A>T | CA344047297 | CRB1 | c.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 | |
1 | g.197435221C>A | CA344047307 | CRB1 | c.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 |
1 | g.197435221C= | CA1218068840 | CRB1 | c.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= | |
1 | g.197435221C>G | CA344047305 | CRB1 | c.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 | |
1 | g.197435221C>T | CA344047302 | CRB1 | c.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 |
1 | g.197435222C>A | CA344047309 | CRB1 | c.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 | |
1 | g.197435222C>G | CA344047312 | CRB1 | c.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 | |
1 | g.197435222C>T | CA344047315 | CRB1 | c.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 | |
1 | g.197435223T>A | CA422809238 | CRB1 | c.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 | |
1 | g.197435223T>C | CA422809239 | CRB1 | c.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 |
1 | g.197435223T>G | CA422809240 | CRB1 | c.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 | |
1 | g.197435223T= | CA1218068841 | CRB1 | c.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= | |
1 | g.197435224C>A | CA344047319 | CRB1 | c.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 | |
1 | g.197435224C>G | CA344047321 | CRB1 | c.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 | |
1 | g.197435224C>T | CA344047324 | CRB1 | c.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 |
1 | g.197435225A= | CA1218068842 | CRB1 | c.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= | |
1 | g.197435225A>C | CA344047325 | CRB1 | c.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 | |
1 | g.197435225A>G | CA1312320 | CRB1 | c.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 |
1 | g.197435225A>T | CA344047326 | CRB1 | c.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 | |
1 | g.197435226G>A | CA422809244 | CRB1 | c.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 |
1 | g.197435226G>C | CA344047328 | CRB1 | c.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 | |
1 | g.197435226G>T | CA344047331 | CRB1 | c.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 | |
1 | g.197435226_197435227delinsTT | CA645534550 | CRB1 | c.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 |
1 | g.197435227G>A | CA344047341 | CRB1 | c.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 |
1 | g.197435227G>C | CA344047337 | CRB1 | c.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 | |
1 | g.197435227G= | CA1218068843 | CRB1 | c.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= | |
1 | g.197435227G>T | CA344047335 | CRB1 | c.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 | |
1 | g.197435228A= | CA1218068844 | CRB1 | c.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= | |
1 | g.197435228A>C | CA344047346 | CRB1 | c.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 | |
1 | g.197435228A>G | CA344047349 | CRB1 | c.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 |
1 | g.197435228A>T | CA344047351 | CRB1 | c.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 | |
1 | g.197435229A>C | CA344047356 | CRB1 | c.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 | |
1 | g.197435229A>G | CA422809247 | CRB1 | c.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 | |
1 | g.197435229A>T | CA344047357 | CRB1 | c.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 | |
1 | g.197435230G>A | CA344047362 | CRB1 | c.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 | |
1 | g.197435230G>C | CA344047367 | CRB1 | c.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 | |
1 | g.197435230G>T | CA344047369 | CRB1 | c.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 | |
1 | g.197435231A>C | CA344047377 | CRB1 | c.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 | |
1 | g.197435231A>G | CA344047379 | CRB1 | c.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 | |
1 | g.197435231A>T | CA344047383 | CRB1 | c.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 | |
1 | g.197435232G>A | CA35907481 | CRB1 | c.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 |
1 | g.197435232G>C | CA344047386 | CRB1 | c.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 | |
1 | g.197435232G= | CA1218068845 | CRB1 | c.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= | |
1 | g.197435232G>T | CA344047390 | CRB1 | c.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 | |
1 | g.197435233C>A | CA344047396 | CRB1 | c.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 |
1 | g.197435233C= | CA1218068846 | CRB1 | c.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= | |
1 | g.197435233C>G | CA344047399 | CRB1 | c.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 | |
1 | g.197435233C>T | CA344047394 | CRB1 | c.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 | |
1 | g.197435234A>C | CA344047403 | CRB1 | c.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 | |
1 | g.197435234A>G | CA344047402 | CRB1 | c.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 | |
1 | g.197435234A>T | CA344047404 | CRB1 | c.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 | |
1 | g.197435235A= | CA1144106720 | CRB1 | c.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= | |
1 | g.197435235A>C | CA1312322 | CRB1 | c.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 |
1 | g.197435235A>G | CA1312321 | CRB1 | c.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 |
1 | g.197435235A>T | CA344047412 | CRB1 | c.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 | |
1 | g.197435236T>A | CA344047417 | CRB1 | c.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 | |
1 | g.197435236T>C | CA344047420 | CRB1 | c.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 |
1 | g.197435236T>G | CA344047423 | CRB1 | c.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 | |
1 | g.197435237T>A | CA344047426 | CRB1 | c.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 | |
1 | g.197435237T>C | CA344047429 | CRB1 | c.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 | |
1 | g.197435237T>G | CA344047437 | CRB1 | c.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 | |
1 | g.197435238T>A | CA344047441 | CRB1 | c.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 |
1 | g.197435238T>C | CA422809258 | CRB1 | c.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 | |
1 | g.197435238T>G | CA344047443 | CRB1 | c.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 | |
1 | g.197435238T= | CA1218068847 | CRB1 | c.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= | |
1 | g.197435239C>A | CA1312323 | CRB1 | c.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 |
1 | g.197435239C= | CA1142299971 | CRB1 | c.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= | |
1 | g.197435239C>G | CA344047448 | CRB1 | c.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 | |
1 | g.197435239C>T | CA35907512 | CRB1 | c.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 |
1 | g.197435240T>A | CA344047461 | CRB1 | c.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 | |
1 | g.197435240T>C | CA344047462 | CRB1 | c.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 | |
1 | g.197435240T>G | CA35907519 | CRB1 | c.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 |
1 | g.197435240T= | CA1218068848 | CRB1 | c.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= | |
1 | g.197435241C>A | CA422809266 | CRB1 | c.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 | |
1 | g.197435241C>G | CA422809265 | CRB1 | c.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 |
1 | g.197435241C>T | CA422809264 | CRB1 | c.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 | |
1 | g.197435241_197435242delinsCA | CA1218068849 | CRB1 | c.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 | |
1 | g.197435242A>C | CA344047466 | CRB1 | c.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 | |
1 | g.197435242A>G | CA344047467 | CRB1 | c.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 | |
1 | g.197435242A>T | CA344047469 | CRB1 | c.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 | |
1 | g.197435245del | CA916375337 | CRB1 | c.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 |
1 | g.197435243A= | CA1218068850 | CRB1 | c.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= | |
1 | g.197435243A>C | CA344047474 | CRB1 | c.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 | |
1 | g.197435243A>G | CA1312324 | CRB1 | c.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 |
1 | g.197435243A>T | CA344047479 | CRB1 | c.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 | |
1 | g.197435244A= | CA1218068851 | CRB1 | c.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= | |
1 | g.197435244A>C | CA344047483 | CRB1 | c.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 |
1 | g.197435244A>G | CA422809272 | CRB1 | c.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 |
1 | g.197435244A>T | CA344047484 | CRB1 | c.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 | |
1 | g.197435245A>C | CA344047506 | CRB1 | c.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 | |
1 | g.197435245A>G | CA344047509 | CRB1 | c.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 | |
1 | g.197435245A>T | CA344047489 | CRB1 | c.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 | |
1 | g.197435245_197435246delinsAT | CA1218068852 | CRB1 | c.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 | |
1 | g.197435246del | CA203797 | CRB1 | c.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 |
1 | g.197435246T>A | CA344047512 | CRB1 | c.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 | |
1 | g.197435246T>C | CA344047513 | CRB1 | c.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 | |
1 | g.197435246T>G | CA344047514 | CRB1 | c.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 | |
1 | g.197435247C>A | CA422809277 | CRB1 | c.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 |
1 | g.197435247C>G | CA344047518 | CRB1 | c.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 | |
1 | g.197435247C>T | CA422809279 | CRB1 | c.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 | |
1 | g.197435248T>A | CA344047527 | CRB1 | c.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 | |
1 | g.197435248T>C | CA344047524 | CRB1 | c.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 | |
1 | g.197435248T>G | CA344047523 | CRB1 | c.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 |
1 | g.197435249C>A | CA344047531 | CRB1 | c.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 | |
1 | g.197435249C= | CA1218068853 | CRB1 | c.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= | |
1 | g.197435249C>G | CA344047533 | CRB1 | c.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 |
1 | g.197435249C>T | CA1312325 | CRB1 | c.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 |
1 | g.197435250T>A | CA422809293 | CRB1 | c.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 | |
1 | g.197435250T>C | CA422809294 | CRB1 | c.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 |
1 | g.197435250T>G | CA422809291 | CRB1 | c.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 |
1 | g.197435251A= | CA1218068854 | CRB1 | c.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= | |
1 | g.197435251A>C | CA344047537 | CRB1 | c.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 | |
1 | g.197435251A>G | CA344047539 | CRB1 | c.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 |
1 | g.197435251A>T | CA344047540 | CRB1 | c.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 | |
1 | g.197435252C>A | CA344047541 | CRB1 | c.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 | |
1 | g.197435252C>G | CA344047544 | CRB1 | c.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 | |
1 | g.197435252C>T | CA344047542 | CRB1 | c.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 | |
1 | g.197435253C>A | CA422809301 | CRB1 | c.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 |
1 | g.197435253C>G | CA422809303 | CRB1 | c.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 | |
1 | g.197435253C>T | CA422809304 | CRB1 | c.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 | |
1 | g.197435254A= | CA1218068855 | CRB1 | c.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= | |
1 | g.197435254A>C | CA1312326 | CRB1 | c.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 |
1 | g.197435254A>G | CA344047548 | CRB1 | c.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 | |
1 | g.197435254A>T | CA344047551 | CRB1 | c.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 | |
1 | g.197435255A>C | CA344047553 | CRB1 | c.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 | |
1 | g.197435255A>G | CA344047555 | CRB1 | c.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 |
1 | g.197435255A>T | CA344047559 | CRB1 | c.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 | |
1 | g.197435256T>A | CA344047561 | CRB1 | c.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 | |
1 | g.197435256T>C | CA1312327 | CRB1 | c.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 |
1 | g.197435256T>G | CA344047564 | CRB1 | c.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 | |
1 | g.197435256T= | CA1142372549 | CRB1 | c.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= | |
1 | g.197435258_197441676del | CA1139656482 | CRB1 | c.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 |
1 | g.197435257T>A | CA344047567 | CRB1 | c.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 | |
1 | g.197435257T>C | CA344047569 | CRB1 | c.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 | |
1 | g.197435257T>G | CA344047571 | CRB1 | c.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 | |
1 | g.197435258C>A | CA344047576 | CRB1 | c.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 | |
1 | g.197435258C>G | CA344047577 | CRB1 | c.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 | |
1 | g.197435258C>T | CA344047573 | CRB1 | c.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 | |
1 | g.197435259A= | CA1218068856 | CRB1 | c.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= | |
1 | g.197435259A>C | CA422809315 | CRB1 | c.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 | |
1 | g.197435259A>G | CA422809316 | CRB1 | c.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 |
1 | g.197435259A>T | CA422809318 | CRB1 | c.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 |
1 | g.197435260G>A | CA1312328 | CRB1 | c.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 |
1 | g.197435260G>C | CA344047578 | CRB1 | c.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 | |
1 | g.197435260G= | CA1141518269 | CRB1 | c.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= | |
1 | g.197435260G>T | CA344047580 | CRB1 | c.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 | |
1 | g.197435261T>A | CA344047582 | CRB1 | c.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 | |
1 | g.197435261T>C | CA1312329 | CRB1 | c.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 |
1 | g.197435261T>G | CA344047585 | CRB1 | c.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 | |
1 | g.197435261T= | CA1218068857 | CRB1 | c.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= | |
1 | g.197435262G>A | CA422809321 | CRB1 | c.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 |
1 | g.197435262G>C | CA422809323 | CRB1 | c.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 | |
1 | g.197435262G= | CA1142138077 | CRB1 | c.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= | |
1 | g.197435262G>T | CA1312330 | CRB1 | c.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 |
1 | g.197435263G>A | CA344047588 | CRB1 | c.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 | |
1 | g.197435263G>C | CA35907608 | CRB1 | c.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 |
1 | g.197435263G= | CA1218068858 | CRB1 | c.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= | |
1 | g.197435263G>T | CA344047589 | CRB1 | c.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 | |
1 | g.197435264T>A | CA344047590 | CRB1 | c.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 | |
1 | g.197435264T>C | CA344047592 | CRB1 | c.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 | |
1 | g.197435264T>G | CA344047595 | CRB1 | c.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 | |
1 | g.197435265C>A | CA422809435 | CRB1 | c.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 | |
1 | g.197435265C>G | CA422809436 | CRB1 | c.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 | |
1 | g.197435265C>T | CA422809434 | CRB1 | c.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 |
1 | g.197435266A>C | CA344047601 | CRB1 | c.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 | |
1 | g.197435266A>G | CA344047604 | CRB1 | c.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 | |
1 | g.197435266A>T | CA344047598 | CRB1 | c.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 | |
1 | g.197435267C>A | CA344047607 | CRB1 | c.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 | |
1 | g.197435267C>G | CA344047610 | CRB1 | c.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 | |
1 | g.197435267C>T | CA344047613 | CRB1 | c.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 | |
1 | g.197435268T>A | CA422809440 | CRB1 | c.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 | |
1 | g.197435268T>C | CA1312331 | CRB1 | c.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 |
1 | g.197435268T>G | CA422809439 | CRB1 | c.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 | |
1 | g.197435268T= | CA1218068859 | CRB1 | c.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= | |
1 | g.197435269G>A | CA344047618 | CRB1 | c.3406G>A (p.Gly1136Ser) c.2287G>A (p.Gly763Ser) c.1549G>A (p.Gly517Ser) c.3070G>A (p.Gly1024Ser) c.3334G>A (p.Gly1112Ser) c.2129-331G>A (n.2129-331G>A) n.3407G>A n.3615G>A c.2824G>A (p.Gly942Ser) c.1849G>A (p.Gly617Ser) c.2563G>A (p.Gly855Ser) c.3541G>A (p.Gly1181Ser) n.3359G>A n.3567G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197435269G>C | CA344047617 | CRB1 | c.3406G>C (p.Gly1136Arg) c.2287G>C (p.Gly763Arg) c.1549G>C (p.Gly517Arg) c.3070G>C (p.Gly1024Arg) c.3334G>C (p.Gly1112Arg) c.2129-331G>C (n.2129-331G>C) n.3407G>C n.3615G>C c.2824G>C (p.Gly942Arg) c.1849G>C (p.Gly617Arg) c.2563G>C (p.Gly855Arg) c.3541G>C (p.Gly1181Arg) n.3359G>C n.3567G>C | |
1 | g.197435269G= | CA1218068860 | CRB1 | c.3406G= (p.Gly1136=) c.2287G= (p.Gly763=) c.1549G= (p.Gly517=) c.3070G= (p.Gly1024=) c.3334G= (p.Gly1112=) c.2129-331G= (n.2129-331G=) n.3407G= n.3615G= c.2824G= (p.Gly942=) c.1849G= (p.Gly617=) c.2563G= (p.Gly855=) c.3541G= (p.Gly1181=) n.3359G= n.3567G= | |
1 | g.197435269G>T | CA344047616 | CRB1 | c.3406G>T (p.Gly1136Cys) c.2287G>T (p.Gly763Cys) c.1549G>T (p.Gly517Cys) c.3070G>T (p.Gly1024Cys) c.3334G>T (p.Gly1112Cys) c.2129-331G>T (n.2129-331G>T) n.3407G>T n.3615G>T c.2824G>T (p.Gly942Cys) c.1849G>T (p.Gly617Cys) c.2563G>T (p.Gly855Cys) c.3541G>T (p.Gly1181Cys) n.3359G>T n.3567G>T | |
1 | g.197435270G>A | CA344047621 | CRB1 | c.3407G>A (p.Gly1136Asp) c.2288G>A (p.Gly763Asp) c.1550G>A (p.Gly517Asp) c.3071G>A (p.Gly1024Asp) c.3335G>A (p.Gly1112Asp) c.2129-330G>A (n.2129-330G>A) n.3408G>A n.3616G>A c.2825G>A (p.Gly942Asp) c.1850G>A (p.Gly617Asp) c.2564G>A (p.Gly855Asp) c.3542G>A (p.Gly1181Asp) n.3360G>A n.3568G>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197435270G>C | CA344047624 | CRB1 | c.3407G>C (p.Gly1136Ala) c.2288G>C (p.Gly763Ala) c.1550G>C (p.Gly517Ala) c.3071G>C (p.Gly1024Ala) c.3335G>C (p.Gly1112Ala) c.2129-330G>C (n.2129-330G>C) n.3408G>C n.3616G>C c.2825G>C (p.Gly942Ala) c.1850G>C (p.Gly617Ala) c.2564G>C (p.Gly855Ala) c.3542G>C (p.Gly1181Ala) n.3360G>C n.3568G>C | |
1 | g.197435270G= | CA1218068861 | CRB1 | c.3407G= (p.Gly1136=) c.2288G= (p.Gly763=) c.1550G= (p.Gly517=) c.3071G= (p.Gly1024=) c.3335G= (p.Gly1112=) c.2129-330G= (n.2129-330G=) n.3408G= n.3616G= c.2825G= (p.Gly942=) c.1850G= (p.Gly617=) c.2564G= (p.Gly855=) c.3542G= (p.Gly1181=) n.3360G= n.3568G= | |
1 | g.197435270G>T | CA344047628 | CRB1 | c.3407G>T (p.Gly1136Val) c.2288G>T (p.Gly763Val) c.1550G>T (p.Gly517Val) c.3071G>T (p.Gly1024Val) c.3335G>T (p.Gly1112Val) c.2129-330G>T (n.2129-330G>T) n.3408G>T n.3616G>T c.2825G>T (p.Gly942Val) c.1850G>T (p.Gly617Val) c.2564G>T (p.Gly855Val) c.3542G>T (p.Gly1181Val) n.3360G>T n.3568G>T | gnomAD v4 COSMIC COSMIC |
1 | g.197435270_197435271delinsGC | CA1218068862 | CRB1 | c.3407_3408delinsGC (p.Gly1136=) c.2288_2289delinsGC (p.Gly763=) c.1550_1551delinsGC (p.Gly517=) c.3071_3072delinsGC (p.Gly1024=) c.3335_3336delinsGC (p.Gly1112=) c.2129-330_2129-329delinsGC (n.2129-330_2129-329delinsGC) n.3408_3409delinsGC n.3616_3617delinsGC c.2825_2826delinsGC (p.Gly942=) c.1850_1851delinsGC (p.Gly617=) c.2564_2565delinsGC (p.Gly855=) c.3542_3543delinsGC (p.Gly1181=) n.3360_3361delinsGC n.3568_3569delinsGC |