| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3757842_3757923delinsGACAGGGTCAATTTCCTGCTCAAAGACCTCTGCAAGCTTACTGCAAAACTTATAGACTCGGGATGTCTTGCGATTATAGAGC | CA2202943193 | CREBBP | c.3495_3576delinsGCTCTATAATCGCAAGACATCCCGAGTCTATAAGTTTTGCAGTAAGCTTGCAGAGGTCTTTGAGCAGGAAATTGACCCTGTC (p.Trp1165=) c.3381_3462delinsGCTCTATAATCGCAAGACATCCCGAGTCTATAAGTTTTGCAGTAAGCTTGCAGAGGTCTTTGAGCAGGAAATTGACCCTGTC (p.Trp1127=) c.2100_2181delinsGCTCTATAATCGCAAGACATCCCGAGTCTATAAGTTTTGCAGTAAGCTTGCAGAGGTCTTTGAGCAGGAAATTGACCCTGTC (p.Trp700=) c.3450_3531delinsGCTCTATAATCGCAAGACATCCCGAGTCTATAAGTTTTGCAGTAAGCTTGCAGAGGTCTTTGAGCAGGAAATTGACCCTGTC (p.Trp1150=) c.3078_3159delinsGCTCTATAATCGCAAGACATCCCGAGTCTATAAGTTTTGCAGTAAGCTTGCAGAGGTCTTTGAGCAGGAAATTGACCCTGTC (p.Trp1026=) c.3441_3522delinsGCTCTATAATCGCAAGACATCCCGAGTCTATAAGTTTTGCAGTAAGCTTGCAGAGGTCTTTGAGCAGGAAATTGACCCTGTC (p.Trp1147=) c.2742_2823delinsGCTCTATAATCGCAAGACATCCCGAGTCTATAAGTTTTGCAGTAAGCTTGCAGAGGTCTTTGAGCAGGAAATTGACCCTGTC (p.Trp914=) c.3489_3570delinsGCTCTATAATCGCAAGACATCCCGAGTCTATAAGTTTTGCAGTAAGCTTGCAGAGGTCTTTGAGCAGGAAATTGACCCTGTC (p.Trp1163=) | |
| 16 | g.3757843_3757923del | CA915949079 | CREBBP | c.3495_3575del (p.Trp1165_Val1192delinsCys) c.3381_3461del (p.Trp1127_Val1154delinsCys) c.2100_2180del (p.Trp700_Val727delinsCys) c.3450_3530del (p.Trp1150_Val1177delinsCys) c.3078_3158del (p.Trp1026_Val1053delinsCys) c.3441_3521del (p.Trp1147_Val1174delinsCys) c.2742_2822del (p.Trp914_Val941delinsCys) c.3489_3569del (p.Trp1163_Val1190delinsCys) | ClinVar dbSNP |
| 16 | g.3757898_3757921del | CA2580091114 | CREBBP | c.3504_3527del (p.Asn1168_Tyr1175del) c.3390_3413del (p.Asn1130_Tyr1137del) c.2109_2132del (p.Asn703_Tyr710del) c.3459_3482del (p.Asn1153_Tyr1160del) c.3087_3110del (p.Asn1029_Tyr1036del) c.3450_3473del (p.Asn1150_Tyr1157del) c.2751_2774del (p.Asn917_Tyr924del) c.3498_3521del (p.Asn1166_Tyr1173del) | ClinVar |
| 16 | g.3757894T>A | CA394568737 | CREBBP | c.3524A>T (p.Tyr1175Phe) c.3410A>T (p.Tyr1137Phe) c.2129A>T (p.Tyr710Phe) c.3479A>T (p.Tyr1160Phe) c.3107A>T (p.Tyr1036Phe) c.3470A>T (p.Tyr1157Phe) c.2771A>T (p.Tyr924Phe) c.3518A>T (p.Tyr1173Phe) | gnomAD v4 |
| 16 | g.3757894T>C | CA254814 | CREBBP | c.3524A>G (p.Tyr1175Cys) c.3410A>G (p.Tyr1137Cys) c.2129A>G (p.Tyr710Cys) c.3479A>G (p.Tyr1160Cys) c.3107A>G (p.Tyr1036Cys) c.3470A>G (p.Tyr1157Cys) c.2771A>G (p.Tyr924Cys) c.3518A>G (p.Tyr1173Cys) | ClinVar dbSNP |
| 16 | g.3757894T>G | CA394568738 | CREBBP | c.3524A>C (p.Tyr1175Ser) c.3410A>C (p.Tyr1137Ser) c.2129A>C (p.Tyr710Ser) c.3479A>C (p.Tyr1160Ser) c.3107A>C (p.Tyr1036Ser) c.3470A>C (p.Tyr1157Ser) c.2771A>C (p.Tyr924Ser) c.3518A>C (p.Tyr1173Ser) | |
| 16 | g.3757894T= | CA2202943259 | CREBBP | c.3524A= (p.Tyr1175=) c.3410A= (p.Tyr1137=) c.2129A= (p.Tyr710=) c.3479A= (p.Tyr1160=) c.3107A= (p.Tyr1036=) c.3470A= (p.Tyr1157=) c.2771A= (p.Tyr924=) c.3518A= (p.Tyr1173=) | |
| 16 | g.3757895A>C | CA394568739 | CREBBP | c.3523T>G (p.Tyr1175Asp) c.3409T>G (p.Tyr1137Asp) c.2128T>G (p.Tyr710Asp) c.3478T>G (p.Tyr1160Asp) c.3106T>G (p.Tyr1036Asp) c.3469T>G (p.Tyr1157Asp) c.2770T>G (p.Tyr924Asp) c.3517T>G (p.Tyr1173Asp) | |
| 16 | g.3757895A>G | CA394568740 | CREBBP | c.3523T>C (p.Tyr1175His) c.3409T>C (p.Tyr1137His) c.2128T>C (p.Tyr710His) c.3478T>C (p.Tyr1160His) c.3106T>C (p.Tyr1036His) c.3469T>C (p.Tyr1157His) c.2770T>C (p.Tyr924His) c.3517T>C (p.Tyr1173His) | |
| 16 | g.3757895A>T | CA394568741 | CREBBP | c.3523T>A (p.Tyr1175Asn) c.3409T>A (p.Tyr1137Asn) c.2128T>A (p.Tyr710Asn) c.3478T>A (p.Tyr1160Asn) c.3106T>A (p.Tyr1036Asn) c.3469T>A (p.Tyr1157Asn) c.2770T>A (p.Tyr924Asn) c.3517T>A (p.Tyr1173Asn) | |
| 16 | g.3757896G>A | CA493394508 | CREBBP | c.3522C>T (p.Val1174=) c.3408C>T (p.Val1136=) c.2127C>T (p.Val709=) c.3477C>T (p.Val1159=) c.3105C>T (p.Val1035=) c.3468C>T (p.Val1156=) c.2769C>T (p.Val923=) c.3516C>T (p.Val1172=) | |
| 16 | g.3757896G>C | CA493394509 | CREBBP | c.3522C>G (p.Val1174=) c.3408C>G (p.Val1136=) c.2127C>G (p.Val709=) c.3477C>G (p.Val1159=) c.3105C>G (p.Val1035=) c.3468C>G (p.Val1156=) c.2769C>G (p.Val923=) c.3516C>G (p.Val1172=) | |
| 16 | g.3757896G>T | CA493394510 | CREBBP | c.3522C>A (p.Val1174=) c.3408C>A (p.Val1136=) c.2127C>A (p.Val709=) c.3477C>A (p.Val1159=) c.3105C>A (p.Val1035=) c.3468C>A (p.Val1156=) c.2769C>A (p.Val923=) c.3516C>A (p.Val1172=) | |
| 16 | g.3757897A>C | CA394568742 | CREBBP | c.3521T>G (p.Val1174Gly) c.3407T>G (p.Val1136Gly) c.2126T>G (p.Val709Gly) c.3476T>G (p.Val1159Gly) c.3104T>G (p.Val1035Gly) c.3467T>G (p.Val1156Gly) c.2768T>G (p.Val923Gly) c.3515T>G (p.Val1172Gly) | |
| 16 | g.3757897A>G | CA394568743 | CREBBP | c.3521T>C (p.Val1174Ala) c.3407T>C (p.Val1136Ala) c.2126T>C (p.Val709Ala) c.3476T>C (p.Val1159Ala) c.3104T>C (p.Val1035Ala) c.3467T>C (p.Val1156Ala) c.2768T>C (p.Val923Ala) c.3515T>C (p.Val1172Ala) | |
| 16 | g.3757897A>T | CA394568744 | CREBBP | c.3521T>A (p.Val1174Asp) c.3407T>A (p.Val1136Asp) c.2126T>A (p.Val709Asp) c.3476T>A (p.Val1159Asp) c.3104T>A (p.Val1035Asp) c.3467T>A (p.Val1156Asp) c.2768T>A (p.Val923Asp) c.3515T>A (p.Val1172Asp) | |
| 16 | g.3757898C>A | CA394568747 | CREBBP | c.3520G>T (p.Val1174Phe) c.3406G>T (p.Val1136Phe) c.2125G>T (p.Val709Phe) c.3475G>T (p.Val1159Phe) c.3103G>T (p.Val1035Phe) c.3466G>T (p.Val1156Phe) c.2767G>T (p.Val923Phe) c.3514G>T (p.Val1172Phe) | |
| 16 | g.3757898C>G | CA394568745 | CREBBP | c.3520G>C (p.Val1174Leu) c.3406G>C (p.Val1136Leu) c.2125G>C (p.Val709Leu) c.3475G>C (p.Val1159Leu) c.3103G>C (p.Val1035Leu) c.3466G>C (p.Val1156Leu) c.2767G>C (p.Val923Leu) c.3514G>C (p.Val1172Leu) | |
| 16 | g.3757898C>T | CA394568746 | CREBBP | c.3520G>A (p.Val1174Ile) c.3406G>A (p.Val1136Ile) c.2125G>A (p.Val709Ile) c.3475G>A (p.Val1159Ile) c.3103G>A (p.Val1035Ile) c.3466G>A (p.Val1156Ile) c.2767G>A (p.Val923Ile) c.3514G>A (p.Val1172Ile) | |
| 16 | g.3757899T>A | CA493394511 | CREBBP | c.3519A>T (p.Arg1173=) c.3405A>T (p.Arg1135=) c.2124A>T (p.Arg708=) c.3474A>T (p.Arg1158=) c.3102A>T (p.Arg1034=) c.3465A>T (p.Arg1155=) c.2766A>T (p.Arg922=) c.3513A>T (p.Arg1171=) | |
| 16 | g.3757899T>C | CA493394512 | CREBBP | c.3519A>G (p.Arg1173=) c.3405A>G (p.Arg1135=) c.2124A>G (p.Arg708=) c.3474A>G (p.Arg1158=) c.3102A>G (p.Arg1034=) c.3465A>G (p.Arg1155=) c.2766A>G (p.Arg922=) c.3513A>G (p.Arg1171=) | |
| 16 | g.3757899T>G | CA493394513 | CREBBP | c.3519A>C (p.Arg1173=) c.3405A>C (p.Arg1135=) c.2124A>C (p.Arg708=) c.3474A>C (p.Arg1158=) c.3102A>C (p.Arg1034=) c.3465A>C (p.Arg1155=) c.2766A>C (p.Arg922=) c.3513A>C (p.Arg1171=) | |
| 16 | g.3757900C>A | CA394568748 | CREBBP | c.3518G>T (p.Arg1173Leu) c.3404G>T (p.Arg1135Leu) c.2123G>T (p.Arg708Leu) c.3473G>T (p.Arg1158Leu) c.3101G>T (p.Arg1034Leu) c.3464G>T (p.Arg1155Leu) c.2765G>T (p.Arg922Leu) c.3512G>T (p.Arg1171Leu) | |
| 16 | g.3757900C>G | CA394568749 | CREBBP | c.3518G>C (p.Arg1173Pro) c.3404G>C (p.Arg1135Pro) c.2123G>C (p.Arg708Pro) c.3473G>C (p.Arg1158Pro) c.3101G>C (p.Arg1034Pro) c.3464G>C (p.Arg1155Pro) c.2765G>C (p.Arg922Pro) c.3512G>C (p.Arg1171Pro) | |
| 16 | g.3757900C>T | CA394568750 | CREBBP | c.3518G>A (p.Arg1173Gln) c.3404G>A (p.Arg1135Gln) c.2123G>A (p.Arg708Gln) c.3473G>A (p.Arg1158Gln) c.3101G>A (p.Arg1034Gln) c.3464G>A (p.Arg1155Gln) c.2765G>A (p.Arg922Gln) c.3512G>A (p.Arg1171Gln) | dbSNP gnomAD v4 |
| 16 | g.3757901G>A | CA394568751 | CREBBP | c.3517C>T (p.Arg1173Ter) c.3403C>T (p.Arg1135Ter) c.2122C>T (p.Arg708Ter) c.3472C>T (p.Arg1158Ter) c.3100C>T (p.Arg1034Ter) c.3463C>T (p.Arg1155Ter) c.2764C>T (p.Arg922Ter) c.3511C>T (p.Arg1171Ter) | ClinVar dbSNP COSMIC |
| 16 | g.3757901G>C | CA394568752 | CREBBP | c.3517C>G (p.Arg1173Gly) c.3403C>G (p.Arg1135Gly) c.2122C>G (p.Arg708Gly) c.3472C>G (p.Arg1158Gly) c.3100C>G (p.Arg1034Gly) c.3463C>G (p.Arg1155Gly) c.2764C>G (p.Arg922Gly) c.3511C>G (p.Arg1171Gly) | |
| 16 | g.3757901G>T | CA493394514 | CREBBP | c.3517C>A (p.Arg1173=) c.3403C>A (p.Arg1135=) c.2122C>A (p.Arg708=) c.3472C>A (p.Arg1158=) c.3100C>A (p.Arg1034=) c.3463C>A (p.Arg1155=) c.2764C>A (p.Arg922=) c.3511C>A (p.Arg1171=) | |
| 16 | g.3757902G>A | CA493394515 | CREBBP | c.3516C>T (p.Ser1172=) c.3402C>T (p.Ser1134=) c.2121C>T (p.Ser707=) c.3471C>T (p.Ser1157=) c.3099C>T (p.Ser1033=) c.3462C>T (p.Ser1154=) c.2763C>T (p.Ser921=) c.3510C>T (p.Ser1170=) | ClinVar dbSNP |
| 16 | g.3757902G>C | CA493394516 | CREBBP | c.3516C>G (p.Ser1172=) c.3402C>G (p.Ser1134=) c.2121C>G (p.Ser707=) c.3471C>G (p.Ser1157=) c.3099C>G (p.Ser1033=) c.3462C>G (p.Ser1154=) c.2763C>G (p.Ser921=) c.3510C>G (p.Ser1170=) | |
| 16 | g.3757902G>T | CA493394517 | CREBBP | c.3516C>A (p.Ser1172=) c.3402C>A (p.Ser1134=) c.2121C>A (p.Ser707=) c.3471C>A (p.Ser1157=) c.3099C>A (p.Ser1033=) c.3462C>A (p.Ser1154=) c.2763C>A (p.Ser921=) c.3510C>A (p.Ser1170=) | |
| 16 | g.3757903G>A | CA394568753 | CREBBP | c.3515C>T (p.Ser1172Phe) c.3401C>T (p.Ser1134Phe) c.2120C>T (p.Ser707Phe) c.3470C>T (p.Ser1157Phe) c.3098C>T (p.Ser1033Phe) c.3461C>T (p.Ser1154Phe) c.2762C>T (p.Ser921Phe) c.3509C>T (p.Ser1170Phe) | |
| 16 | g.3757903G>C | CA394568754 | CREBBP | c.3515C>G (p.Ser1172Cys) c.3401C>G (p.Ser1134Cys) c.2120C>G (p.Ser707Cys) c.3470C>G (p.Ser1157Cys) c.3098C>G (p.Ser1033Cys) c.3461C>G (p.Ser1154Cys) c.2762C>G (p.Ser921Cys) c.3509C>G (p.Ser1170Cys) | |
| 16 | g.3757903G>T | CA394568755 | CREBBP | c.3515C>A (p.Ser1172Tyr) c.3401C>A (p.Ser1134Tyr) c.2120C>A (p.Ser707Tyr) c.3470C>A (p.Ser1157Tyr) c.3098C>A (p.Ser1033Tyr) c.3461C>A (p.Ser1154Tyr) c.2762C>A (p.Ser921Tyr) c.3509C>A (p.Ser1170Tyr) | dbSNP |
| 16 | g.3757904A>C | CA394568756 | CREBBP | c.3514T>G (p.Ser1172Ala) c.3400T>G (p.Ser1134Ala) c.2119T>G (p.Ser707Ala) c.3469T>G (p.Ser1157Ala) c.3097T>G (p.Ser1033Ala) c.3460T>G (p.Ser1154Ala) c.2761T>G (p.Ser921Ala) c.3508T>G (p.Ser1170Ala) | |
| 16 | g.3757904A>G | CA394568757 | CREBBP | c.3514T>C (p.Ser1172Pro) c.3400T>C (p.Ser1134Pro) c.2119T>C (p.Ser707Pro) c.3469T>C (p.Ser1157Pro) c.3097T>C (p.Ser1033Pro) c.3460T>C (p.Ser1154Pro) c.2761T>C (p.Ser921Pro) c.3508T>C (p.Ser1170Pro) | |
| 16 | g.3757904A>T | CA394568758 | CREBBP | c.3514T>A (p.Ser1172Thr) c.3400T>A (p.Ser1134Thr) c.2119T>A (p.Ser707Thr) c.3469T>A (p.Ser1157Thr) c.3097T>A (p.Ser1033Thr) c.3460T>A (p.Ser1154Thr) c.2761T>A (p.Ser921Thr) c.3508T>A (p.Ser1170Thr) | |
| 16 | g.3757905T>A | CA493394518 | CREBBP | c.3513A>T (p.Thr1171=) c.3399A>T (p.Thr1133=) c.2118A>T (p.Thr706=) c.3468A>T (p.Thr1156=) c.3096A>T (p.Thr1032=) c.3459A>T (p.Thr1153=) c.2760A>T (p.Thr920=) c.3507A>T (p.Thr1169=) | |
| 16 | g.3757905T>C | CA493394519 | CREBBP | c.3513A>G (p.Thr1171=) c.3399A>G (p.Thr1133=) c.2118A>G (p.Thr706=) c.3468A>G (p.Thr1156=) c.3096A>G (p.Thr1032=) c.3459A>G (p.Thr1153=) c.2760A>G (p.Thr920=) c.3507A>G (p.Thr1169=) | |
| 16 | g.3757905T>G | CA493394520 | CREBBP | c.3513A>C (p.Thr1171=) c.3399A>C (p.Thr1133=) c.2118A>C (p.Thr706=) c.3468A>C (p.Thr1156=) c.3096A>C (p.Thr1032=) c.3459A>C (p.Thr1153=) c.2760A>C (p.Thr920=) c.3507A>C (p.Thr1169=) | |
| 16 | g.3757906G>A | CA394568760 | CREBBP | c.3512C>T (p.Thr1171Ile) c.3398C>T (p.Thr1133Ile) c.2117C>T (p.Thr706Ile) c.3467C>T (p.Thr1156Ile) c.3095C>T (p.Thr1032Ile) c.3458C>T (p.Thr1153Ile) c.2759C>T (p.Thr920Ile) c.3506C>T (p.Thr1169Ile) | COSMIC |
| 16 | g.3757906G>C | CA394568761 | CREBBP | c.3512C>G (p.Thr1171Arg) c.3398C>G (p.Thr1133Arg) c.2117C>G (p.Thr706Arg) c.3467C>G (p.Thr1156Arg) c.3095C>G (p.Thr1032Arg) c.3458C>G (p.Thr1153Arg) c.2759C>G (p.Thr920Arg) c.3506C>G (p.Thr1169Arg) | ClinVar |
| 16 | g.3757906G>T | CA394568759 | CREBBP | c.3512C>A (p.Thr1171Lys) c.3398C>A (p.Thr1133Lys) c.2117C>A (p.Thr706Lys) c.3467C>A (p.Thr1156Lys) c.3095C>A (p.Thr1032Lys) c.3458C>A (p.Thr1153Lys) c.2759C>A (p.Thr920Lys) c.3506C>A (p.Thr1169Lys) | |
| 16 | g.3757907T>A | CA394568762 | CREBBP | c.3511A>T (p.Thr1171Ser) c.3397A>T (p.Thr1133Ser) c.2116A>T (p.Thr706Ser) c.3466A>T (p.Thr1156Ser) c.3094A>T (p.Thr1032Ser) c.3457A>T (p.Thr1153Ser) c.2758A>T (p.Thr920Ser) c.3505A>T (p.Thr1169Ser) | |
| 16 | g.3757907T>C | CA394568763 | CREBBP | c.3511A>G (p.Thr1171Ala) c.3397A>G (p.Thr1133Ala) c.2116A>G (p.Thr706Ala) c.3466A>G (p.Thr1156Ala) c.3094A>G (p.Thr1032Ala) c.3457A>G (p.Thr1153Ala) c.2758A>G (p.Thr920Ala) c.3505A>G (p.Thr1169Ala) | |
| 16 | g.3757907T>G | CA394568764 | CREBBP | c.3511A>C (p.Thr1171Pro) c.3397A>C (p.Thr1133Pro) c.2116A>C (p.Thr706Pro) c.3466A>C (p.Thr1156Pro) c.3094A>C (p.Thr1032Pro) c.3457A>C (p.Thr1153Pro) c.2758A>C (p.Thr920Pro) c.3505A>C (p.Thr1169Pro) | |
| 16 | g.3757907dup | CA2695222672 | CREBBP | c.3511dup (p.Thr1171AsnfsTer6) c.3397dup (p.Thr1133AsnfsTer6) c.2116dup (p.Thr706AsnfsTer6) c.3466dup (p.Thr1156AsnfsTer6) c.3094dup (p.Thr1032AsnfsTer6) c.3457dup (p.Thr1153AsnfsTer6) c.2758dup (p.Thr920AsnfsTer6) c.3505dup (p.Thr1169AsnfsTer6) | |
| 16 | g.3757908C>A | CA394568765 | CREBBP | c.3510G>T (p.Lys1170Asn) c.3396G>T (p.Lys1132Asn) c.2115G>T (p.Lys705Asn) c.3465G>T (p.Lys1155Asn) c.3093G>T (p.Lys1031Asn) c.3456G>T (p.Lys1152Asn) c.2757G>T (p.Lys919Asn) c.3504G>T (p.Lys1168Asn) | |
| 16 | g.3757908C= | CA2202943266 | CREBBP | c.3510G= (p.Lys1170=) c.3396G= (p.Lys1132=) c.2115G= (p.Lys705=) c.3465G= (p.Lys1155=) c.3093G= (p.Lys1031=) c.3456G= (p.Lys1152=) c.2757G= (p.Lys919=) c.3504G= (p.Lys1168=) | |
| 16 | g.3757908C>G | CA394568766 | CREBBP | c.3510G>C (p.Lys1170Asn) c.3396G>C (p.Lys1132Asn) c.2115G>C (p.Lys705Asn) c.3465G>C (p.Lys1155Asn) c.3093G>C (p.Lys1031Asn) c.3456G>C (p.Lys1152Asn) c.2757G>C (p.Lys919Asn) c.3504G>C (p.Lys1168Asn) | dbSNP |