UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.123373784_123373798dup | CA5232396 | CRB2 | c.3253_3267dup (p.Pro1089_Arg1090insGlyTrpGluGlyPro) c.2257_2271dup (p.Pro757_Arg758insGlyTrpGluGlyPro) n.2367_2381dup c.3226_3240dup (p.Pro1080_Arg1081insGlyTrpGluGlyPro) c.3058_3072dup (p.Pro1024_Arg1025insGlyTrpGluGlyPro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123373784_123373798del | CA1877939751 | CRB2 | c.3253_3267del (p.Gly1085_Pro1089del) c.2257_2271del (p.Gly753_Pro757del) n.2367_2381del c.3226_3240del (p.Gly1076_Pro1080del) c.3058_3072del (p.Gly1020_Pro1024del) | dbSNP |
| 9 | g.123373787_123373804delinsCGGCCCGGGGTGG | CA2695211166 | CRB2 | c.3256_3273delinsCGGCCCGGGGTGG (p.Trp1086ArgfsTer?) c.2260_2277delinsCGGCCCGGGGTGG (p.Trp754ArgfsTer?) n.2370_2387delinsCGGCCCGGGGTGG c.3229_3246delinsCGGCCCGGGGTGG (p.Trp1077ArgfsTer?) c.3061_3078delinsCGGCCCGGGGTGG (p.Trp1021ArgfsTer?) | |
| 9 | g.123373805_123373918del | CA2691590230 | CRB2 | c.3274_3387del (p.Glu1092_Cys1129del) c.2278_2391del (p.Glu760_Cys797del) n.2388_2501del c.3247_3360del (p.Glu1083_Cys1120del) c.3079_3192del (p.Glu1027_Cys1064del) | gnomAD v4 |
| 9 | g.123373794G>A | CA5232402 | CRB2 | c.3263G>A (p.Gly1088Asp) c.2267G>A (p.Gly756Asp) n.2377G>A c.3236G>A (p.Gly1079Asp) c.3068G>A (p.Gly1023Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123373794G>C | CA374868356 | CRB2 | c.3263G>C (p.Gly1088Ala) c.2267G>C (p.Gly756Ala) n.2377G>C c.3236G>C (p.Gly1079Ala) c.3068G>C (p.Gly1023Ala) | |
| 9 | g.123373794G= | CA1877939823 | CRB2 | c.3263G= (p.Gly1088=) c.2267G= (p.Gly756=) n.2377G= c.3236G= (p.Gly1079=) c.3068G= (p.Gly1023=) | |
| 9 | g.123373794G>T | CA374868355 | CRB2 | c.3263G>T (p.Gly1088Val) c.2267G>T (p.Gly756Val) n.2377G>T c.3236G>T (p.Gly1079Val) c.3068G>T (p.Gly1023Val) | gnomAD v4 |
| 9 | g.123373795C>A | CA467206748 | CRB2 | c.3264C>A (p.Gly1088=) c.2268C>A (p.Gly756=) n.2378C>A c.3237C>A (p.Gly1079=) c.3069C>A (p.Gly1023=) | gnomAD v4 |
| 9 | g.123373795C= | CA1877939832 | CRB2 | c.3264C= (p.Gly1088=) c.2268C= (p.Gly756=) n.2378C= c.3237C= (p.Gly1079=) c.3069C= (p.Gly1023=) | |
| 9 | g.123373795C>G | CA467206749 | CRB2 | c.3264C>G (p.Gly1088=) c.2268C>G (p.Gly756=) n.2378C>G c.3237C>G (p.Gly1079=) c.3069C>G (p.Gly1023=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.123373795C>T | CA467206750 | CRB2 | c.3264C>T (p.Gly1088=) c.2268C>T (p.Gly756=) n.2378C>T c.3237C>T (p.Gly1079=) c.3069C>T (p.Gly1023=) | gnomAD v4 |
| 9 | g.123373797_123373811dup | CA590936310 | CRB2 | c.3266_3280dup (p.Ala1093_His1094insProArgCysGluAla) c.2270_2284dup (p.Ala761_His762insProArgCysGluAla) n.2380_2394dup c.3239_3253dup (p.Ala1084_His1085insProArgCysGluAla) c.3071_3085dup (p.Ala1028_His1029insProArgCysGluAla) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123373796C>A | CA374868357 | CRB2 | c.3265C>A (p.Pro1089Thr) c.2269C>A (p.Pro757Thr) n.2379C>A c.3238C>A (p.Pro1080Thr) c.3070C>A (p.Pro1024Thr) | |
| 9 | g.123373796C>G | CA374868358 | CRB2 | c.3265C>G (p.Pro1089Ala) c.2269C>G (p.Pro757Ala) n.2379C>G c.3238C>G (p.Pro1080Ala) c.3070C>G (p.Pro1024Ala) | |
| 9 | g.123373796C>T | CA374868359 | CRB2 | c.3265C>T (p.Pro1089Ser) c.2269C>T (p.Pro757Ser) n.2379C>T c.3238C>T (p.Pro1080Ser) c.3070C>T (p.Pro1024Ser) | |
| 9 | g.123373797C>A | CA374868360 | CRB2 | c.3266C>A (p.Pro1089Gln) c.2270C>A (p.Pro757Gln) n.2380C>A c.3239C>A (p.Pro1080Gln) c.3071C>A (p.Pro1024Gln) | gnomAD v4 |
| 9 | g.123373797C= | CA1877939839 | CRB2 | c.3266C= (p.Pro1089=) c.2270C= (p.Pro757=) n.2380C= c.3239C= (p.Pro1080=) c.3071C= (p.Pro1024=) | |
| 9 | g.123373797C>G | CA374868361 | CRB2 | c.3266C>G (p.Pro1089Arg) c.2270C>G (p.Pro757Arg) n.2380C>G c.3239C>G (p.Pro1080Arg) c.3071C>G (p.Pro1024Arg) | gnomAD v4 |
| 9 | g.123373797C>T | CA5232403 | CRB2 | c.3266C>T (p.Pro1089Leu) c.2270C>T (p.Pro757Leu) n.2380C>T c.3239C>T (p.Pro1080Leu) c.3071C>T (p.Pro1024Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123373798G>A | CA199639335 | CRB2 | c.3267G>A (p.Pro1089=) c.2271G>A (p.Pro757=) n.2381G>A c.3240G>A (p.Pro1080=) c.3072G>A (p.Pro1024=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123373798G>C | CA467206751 | CRB2 | c.3267G>C (p.Pro1089=) c.2271G>C (p.Pro757=) n.2381G>C c.3240G>C (p.Pro1080=) c.3072G>C (p.Pro1024=) | dbSNP |
| 9 | g.123373798G= | CA1877939842 | CRB2 | c.3267G= (p.Pro1089=) c.2271G= (p.Pro757=) n.2381G= c.3240G= (p.Pro1080=) c.3072G= (p.Pro1024=) | |
| 9 | g.123373798G>T | CA467206752 | CRB2 | c.3267G>T (p.Pro1089=) c.2271G>T (p.Pro757=) n.2381G>T c.3240G>T (p.Pro1080=) c.3072G>T (p.Pro1024=) | gnomAD v4 |
| 9 | g.123373799C>A | CA374868362 | CRB2 | c.3268C>A (p.Arg1090Ser) c.2272C>A (p.Arg758Ser) n.2382C>A c.3241C>A (p.Arg1081Ser) c.3073C>A (p.Arg1025Ser) | gnomAD v4 |
| 9 | g.123373799C>G | CA374868363 | CRB2 | c.3268C>G (p.Arg1090Gly) c.2272C>G (p.Arg758Gly) n.2382C>G c.3241C>G (p.Arg1081Gly) c.3073C>G (p.Arg1025Gly) | |
| 9 | g.123373799C>T | CA374868364 | CRB2 | c.3268C>T (p.Arg1090Cys) c.2272C>T (p.Arg758Cys) n.2382C>T c.3241C>T (p.Arg1081Cys) c.3073C>T (p.Arg1025Cys) | gnomAD v4 COSMIC COSMIC |
| 9 | g.123373800G>A | CA374868365 | CRB2 | c.3269G>A (p.Arg1090His) c.2273G>A (p.Arg758His) n.2383G>A c.3242G>A (p.Arg1081His) c.3074G>A (p.Arg1025His) | gnomAD v4 |
| 9 | g.123373800G>C | CA374868366 | CRB2 | c.3269G>C (p.Arg1090Pro) c.2273G>C (p.Arg758Pro) n.2383G>C c.3242G>C (p.Arg1081Pro) c.3074G>C (p.Arg1025Pro) | gnomAD v4 |
| 9 | g.123373800G>T | CA374868367 | CRB2 | c.3269G>T (p.Arg1090Leu) c.2273G>T (p.Arg758Leu) n.2383G>T c.3242G>T (p.Arg1081Leu) c.3074G>T (p.Arg1025Leu) | dbSNP gnomAD v4 |
| 9 | g.123373801C>A | CA467206754 | CRB2 | c.3270C>A (p.Arg1090=) c.2274C>A (p.Arg758=) n.2384C>A c.3243C>A (p.Arg1081=) c.3075C>A (p.Arg1025=) | gnomAD v4 |
| 9 | g.123373801C>G | CA467206755 | CRB2 | c.3270C>G (p.Arg1090=) c.2274C>G (p.Arg758=) n.2384C>G c.3243C>G (p.Arg1081=) c.3075C>G (p.Arg1025=) | gnomAD v4 |
| 9 | g.123373801C>T | CA467206756 | CRB2 | c.3270C>T (p.Arg1090=) c.2274C>T (p.Arg758=) n.2384C>T c.3243C>T (p.Arg1081=) c.3075C>T (p.Arg1025=) | |
| 9 | g.123373802T>A | CA374868368 | CRB2 | c.3271T>A (p.Cys1091Ser) c.2275T>A (p.Cys759Ser) n.2385T>A c.3244T>A (p.Cys1082Ser) c.3076T>A (p.Cys1026Ser) | |
| 9 | g.123373802T>C | CA374868370 | CRB2 | c.3271T>C (p.Cys1091Arg) c.2275T>C (p.Cys759Arg) n.2385T>C c.3244T>C (p.Cys1082Arg) c.3076T>C (p.Cys1026Arg) | gnomAD v4 |
| 9 | g.123373802T>G | CA374868369 | CRB2 | c.3271T>G (p.Cys1091Gly) c.2275T>G (p.Cys759Gly) n.2385T>G c.3244T>G (p.Cys1082Gly) c.3076T>G (p.Cys1026Gly) | gnomAD v4 |
| 9 | g.123373803G>A | CA374868371 | CRB2 | c.3272G>A (p.Cys1091Tyr) c.2276G>A (p.Cys759Tyr) n.2386G>A c.3245G>A (p.Cys1082Tyr) c.3077G>A (p.Cys1026Tyr) | gnomAD v4 |
| 9 | g.123373803G>C | CA374868372 | CRB2 | c.3272G>C (p.Cys1091Ser) c.2276G>C (p.Cys759Ser) n.2386G>C c.3245G>C (p.Cys1082Ser) c.3077G>C (p.Cys1026Ser) | |
| 9 | g.123373803G>T | CA374868373 | CRB2 | c.3272G>T (p.Cys1091Phe) c.2276G>T (p.Cys759Phe) n.2386G>T c.3245G>T (p.Cys1082Phe) c.3077G>T (p.Cys1026Phe) | |
| 9 | g.123373804C>A | CA374868374 | CRB2 | c.3273C>A (p.Cys1091Ter) c.2277C>A (p.Cys759Ter) n.2387C>A c.3246C>A (p.Cys1082Ter) c.3078C>A (p.Cys1026Ter) | gnomAD v4 |
| 9 | g.123373804C= | CA1877939846 | CRB2 | c.3273C= (p.Cys1091=) c.2277C= (p.Cys759=) n.2387C= c.3246C= (p.Cys1082=) c.3078C= (p.Cys1026=) | |
| 9 | g.123373804C>G | CA374868375 | CRB2 | c.3273C>G (p.Cys1091Trp) c.2277C>G (p.Cys759Trp) n.2387C>G c.3246C>G (p.Cys1082Trp) c.3078C>G (p.Cys1026Trp) | |
| 9 | g.123373804C>T | CA5232404 | CRB2 | c.3273C>T (p.Cys1091=) c.2277C>T (p.Cys759=) n.2387C>T c.3246C>T (p.Cys1082=) c.3078C>T (p.Cys1026=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.123373805G>A | CA5232405 | CRB2 | c.3274G>A (p.Glu1092Lys) c.2278G>A (p.Glu760Lys) n.2388G>A c.3247G>A (p.Glu1083Lys) c.3079G>A (p.Glu1027Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.123373805G>C | CA374868376 | CRB2 | c.3274G>C (p.Glu1092Gln) c.2278G>C (p.Glu760Gln) n.2388G>C c.3247G>C (p.Glu1083Gln) c.3079G>C (p.Glu1027Gln) | |
| 9 | g.123373805G= | CA1877939853 | CRB2 | c.3274G= (p.Glu1092=) c.2278G= (p.Glu760=) n.2388G= c.3247G= (p.Glu1083=) c.3079G= (p.Glu1027=) | |
| 9 | g.123373805G>T | CA374868377 | CRB2 | c.3274G>T (p.Glu1092Ter) c.2278G>T (p.Glu760Ter) n.2388G>T c.3247G>T (p.Glu1083Ter) c.3079G>T (p.Glu1027Ter) | gnomAD v4 |
| 9 | g.123373806A>C | CA374868378 | CRB2 | c.3275A>C (p.Glu1092Ala) c.2279A>C (p.Glu760Ala) n.2389A>C c.3248A>C (p.Glu1083Ala) c.3080A>C (p.Glu1027Ala) | |
| 9 | g.123373806A>G | CA374868379 | CRB2 | c.3275A>G (p.Glu1092Gly) c.2279A>G (p.Glu760Gly) n.2389A>G c.3248A>G (p.Glu1083Gly) c.3080A>G (p.Glu1027Gly) | |
| 9 | g.123373806A>T | CA374868380 | CRB2 | c.3275A>T (p.Glu1092Val) c.2279A>T (p.Glu760Val) n.2389A>T c.3248A>T (p.Glu1083Val) c.3080A>T (p.Glu1027Val) |