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.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 |
16 | g.3757908C>T | CA7869801 | CREBBP | c.3510G>A (p.Lys1170=) c.3396G>A (p.Lys1132=) c.2115G>A (p.Lys705=) c.3465G>A (p.Lys1155=) c.3093G>A (p.Lys1031=) c.3456G>A (p.Lys1152=) c.2757G>A (p.Lys919=) c.3504G>A (p.Lys1168=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3757909T>A | CA394568767 | CREBBP | c.3509A>T (p.Lys1170Met) c.3395A>T (p.Lys1132Met) c.2114A>T (p.Lys705Met) c.3464A>T (p.Lys1155Met) c.3092A>T (p.Lys1031Met) c.3455A>T (p.Lys1152Met) c.2756A>T (p.Lys919Met) c.3503A>T (p.Lys1168Met) | |
16 | g.3757909T>C | CA394568768 | CREBBP | c.3509A>G (p.Lys1170Arg) c.3395A>G (p.Lys1132Arg) c.2114A>G (p.Lys705Arg) c.3464A>G (p.Lys1155Arg) c.3092A>G (p.Lys1031Arg) c.3455A>G (p.Lys1152Arg) c.2756A>G (p.Lys919Arg) c.3503A>G (p.Lys1168Arg) | |
16 | g.3757909T>G | CA394568769 | CREBBP | c.3509A>C (p.Lys1170Thr) c.3395A>C (p.Lys1132Thr) c.2114A>C (p.Lys705Thr) c.3464A>C (p.Lys1155Thr) c.3092A>C (p.Lys1031Thr) c.3455A>C (p.Lys1152Thr) c.2756A>C (p.Lys919Thr) c.3503A>C (p.Lys1168Thr) | |
16 | g.3757910T>A | CA394568770 | CREBBP | c.3508A>T (p.Lys1170Ter) c.3394A>T (p.Lys1132Ter) c.2113A>T (p.Lys705Ter) c.3463A>T (p.Lys1155Ter) c.3091A>T (p.Lys1031Ter) c.3454A>T (p.Lys1152Ter) c.2755A>T (p.Lys919Ter) c.3502A>T (p.Lys1168Ter) | |
16 | g.3757910T>C | CA394568771 | CREBBP | c.3508A>G (p.Lys1170Glu) c.3394A>G (p.Lys1132Glu) c.2113A>G (p.Lys705Glu) c.3463A>G (p.Lys1155Glu) c.3091A>G (p.Lys1031Glu) c.3454A>G (p.Lys1152Glu) c.2755A>G (p.Lys919Glu) c.3502A>G (p.Lys1168Glu) | |
16 | g.3757910T>G | CA394568772 | CREBBP | c.3508A>C (p.Lys1170Gln) c.3394A>C (p.Lys1132Gln) c.2113A>C (p.Lys705Gln) c.3463A>C (p.Lys1155Gln) c.3091A>C (p.Lys1031Gln) c.3454A>C (p.Lys1152Gln) c.2755A>C (p.Lys919Gln) c.3502A>C (p.Lys1168Gln) | |
16 | g.3757911G>A | CA493394521 | CREBBP | c.3507C>T (p.Arg1169=) c.3393C>T (p.Arg1131=) c.2112C>T (p.Arg704=) c.3462C>T (p.Arg1154=) c.3090C>T (p.Arg1030=) c.3453C>T (p.Arg1151=) c.2754C>T (p.Arg918=) c.3501C>T (p.Arg1167=) | COSMIC |
16 | g.3757911G>C | CA7869802 | CREBBP | c.3507C>G (p.Arg1169=) c.3393C>G (p.Arg1131=) c.2112C>G (p.Arg704=) c.3462C>G (p.Arg1154=) c.3090C>G (p.Arg1030=) c.3453C>G (p.Arg1151=) c.2754C>G (p.Arg918=) c.3501C>G (p.Arg1167=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3757911G= | CA2202943270 | CREBBP | c.3507C= (p.Arg1169=) c.3393C= (p.Arg1131=) c.2112C= (p.Arg704=) c.3462C= (p.Arg1154=) c.3090C= (p.Arg1030=) c.3453C= (p.Arg1151=) c.2754C= (p.Arg918=) c.3501C= (p.Arg1167=) | |
16 | g.3757911G>T | CA493394522 | CREBBP | c.3507C>A (p.Arg1169=) c.3393C>A (p.Arg1131=) c.2112C>A (p.Arg704=) c.3462C>A (p.Arg1154=) c.3090C>A (p.Arg1030=) c.3453C>A (p.Arg1151=) c.2754C>A (p.Arg918=) c.3501C>A (p.Arg1167=) | |
16 | g.3757912C>A | CA394568775 | CREBBP | c.3506G>T (p.Arg1169Leu) c.3392G>T (p.Arg1131Leu) c.2111G>T (p.Arg704Leu) c.3461G>T (p.Arg1154Leu) c.3089G>T (p.Arg1030Leu) c.3452G>T (p.Arg1151Leu) c.2753G>T (p.Arg918Leu) c.3500G>T (p.Arg1167Leu) | |
16 | g.3757912C>G | CA394568774 | CREBBP | c.3506G>C (p.Arg1169Pro) c.3392G>C (p.Arg1131Pro) c.2111G>C (p.Arg704Pro) c.3461G>C (p.Arg1154Pro) c.3089G>C (p.Arg1030Pro) c.3452G>C (p.Arg1151Pro) c.2753G>C (p.Arg918Pro) c.3500G>C (p.Arg1167Pro) | |
16 | g.3757912C>T | CA394568773 | CREBBP | c.3506G>A (p.Arg1169His) c.3392G>A (p.Arg1131His) c.2111G>A (p.Arg704His) c.3461G>A (p.Arg1154His) c.3089G>A (p.Arg1030His) c.3452G>A (p.Arg1151His) c.2753G>A (p.Arg918His) c.3500G>A (p.Arg1167His) | ClinVar dbSNP COSMIC |
16 | g.3757913G>A | CA394568776 | CREBBP | c.3505C>T (p.Arg1169Cys) c.3391C>T (p.Arg1131Cys) c.2110C>T (p.Arg704Cys) c.3460C>T (p.Arg1154Cys) c.3088C>T (p.Arg1030Cys) c.3451C>T (p.Arg1151Cys) c.2752C>T (p.Arg918Cys) c.3499C>T (p.Arg1167Cys) | dbSNP gnomAD v4 COSMIC |
16 | g.3757913G>C | CA394568777 | CREBBP | c.3505C>G (p.Arg1169Gly) c.3391C>G (p.Arg1131Gly) c.2110C>G (p.Arg704Gly) c.3460C>G (p.Arg1154Gly) c.3088C>G (p.Arg1030Gly) c.3451C>G (p.Arg1151Gly) c.2752C>G (p.Arg918Gly) c.3499C>G (p.Arg1167Gly) | |
16 | g.3757913G>T | CA394568778 | CREBBP | c.3505C>A (p.Arg1169Ser) c.3391C>A (p.Arg1131Ser) c.2110C>A (p.Arg704Ser) c.3460C>A (p.Arg1154Ser) c.3088C>A (p.Arg1030Ser) c.3451C>A (p.Arg1151Ser) c.2752C>A (p.Arg918Ser) c.3499C>A (p.Arg1167Ser) | dbSNP |
16 | g.3757914A= | CA2202943276 | CREBBP | c.3504T= (p.Asn1168=) c.3390T= (p.Asn1130=) c.2109T= (p.Asn703=) c.3459T= (p.Asn1153=) c.3087T= (p.Asn1029=) c.3450T= (p.Asn1150=) c.2751T= (p.Asn917=) c.3498T= (p.Asn1166=) | |
16 | g.3757914A>C | CA394568779 | CREBBP | c.3504T>G (p.Asn1168Lys) c.3390T>G (p.Asn1130Lys) c.2109T>G (p.Asn703Lys) c.3459T>G (p.Asn1153Lys) c.3087T>G (p.Asn1029Lys) c.3450T>G (p.Asn1150Lys) c.2751T>G (p.Asn917Lys) c.3498T>G (p.Asn1166Lys) | |
16 | g.3757914A>G | CA493394523 | CREBBP | c.3504T>C (p.Asn1168=) c.3390T>C (p.Asn1130=) c.2109T>C (p.Asn703=) c.3459T>C (p.Asn1153=) c.3087T>C (p.Asn1029=) c.3450T>C (p.Asn1150=) c.2751T>C (p.Asn917=) c.3498T>C (p.Asn1166=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3757914A>T | CA394568780 | CREBBP | c.3504T>A (p.Asn1168Lys) c.3390T>A (p.Asn1130Lys) c.2109T>A (p.Asn703Lys) c.3459T>A (p.Asn1153Lys) c.3087T>A (p.Asn1029Lys) c.3450T>A (p.Asn1150Lys) c.2751T>A (p.Asn917Lys) c.3498T>A (p.Asn1166Lys) | |
16 | g.3757915T>A | CA394568781 | CREBBP | c.3503A>T (p.Asn1168Ile) c.3389A>T (p.Asn1130Ile) c.2108A>T (p.Asn703Ile) c.3458A>T (p.Asn1153Ile) c.3086A>T (p.Asn1029Ile) c.3449A>T (p.Asn1150Ile) c.2750A>T (p.Asn917Ile) c.3497A>T (p.Asn1166Ile) | |
16 | g.3757915T>C | CA394568782 | CREBBP | c.3503A>G (p.Asn1168Ser) c.3389A>G (p.Asn1130Ser) c.2108A>G (p.Asn703Ser) c.3458A>G (p.Asn1153Ser) c.3086A>G (p.Asn1029Ser) c.3449A>G (p.Asn1150Ser) c.2750A>G (p.Asn917Ser) c.3497A>G (p.Asn1166Ser) | |
16 | g.3757915T>G | CA394568783 | CREBBP | c.3503A>C (p.Asn1168Thr) c.3389A>C (p.Asn1130Thr) c.2108A>C (p.Asn703Thr) c.3458A>C (p.Asn1153Thr) c.3086A>C (p.Asn1029Thr) c.3449A>C (p.Asn1150Thr) c.2750A>C (p.Asn917Thr) c.3497A>C (p.Asn1166Thr) | |
16 | g.3757916T>A | CA394568784 | CREBBP | c.3502A>T (p.Asn1168Tyr) c.3388A>T (p.Asn1130Tyr) c.2107A>T (p.Asn703Tyr) c.3457A>T (p.Asn1153Tyr) c.3085A>T (p.Asn1029Tyr) c.3448A>T (p.Asn1150Tyr) c.2749A>T (p.Asn917Tyr) c.3496A>T (p.Asn1166Tyr) | |
16 | g.3757916T>C | CA394568785 | CREBBP | c.3502A>G (p.Asn1168Asp) c.3388A>G (p.Asn1130Asp) c.2107A>G (p.Asn703Asp) c.3457A>G (p.Asn1153Asp) c.3085A>G (p.Asn1029Asp) c.3448A>G (p.Asn1150Asp) c.2749A>G (p.Asn917Asp) c.3496A>G (p.Asn1166Asp) | |
16 | g.3757916T>G | CA394568786 | CREBBP | c.3502A>C (p.Asn1168His) c.3388A>C (p.Asn1130His) c.2107A>C (p.Asn703His) c.3457A>C (p.Asn1153His) c.3085A>C (p.Asn1029His) c.3448A>C (p.Asn1150His) c.2749A>C (p.Asn917His) c.3496A>C (p.Asn1166His) | |
16 | g.3757918_3757919del | CA2695222673 | CREBBP | c.3501_3502del (p.Tyr1167Ter) c.3387_3388del (p.Tyr1129Ter) c.2106_2107del (p.Tyr702Ter) c.3456_3457del (p.Tyr1152Ter) c.3084_3085del (p.Tyr1028Ter) c.3447_3448del (p.Tyr1149Ter) c.2748_2749del (p.Tyr916Ter) c.3495_3496del (p.Tyr1165Ter) | |
16 | g.3757917A= | CA2202943278 | CREBBP | c.3501T= (p.Tyr1167=) c.3387T= (p.Tyr1129=) c.2106T= (p.Tyr702=) c.3456T= (p.Tyr1152=) c.3084T= (p.Tyr1028=) c.3447T= (p.Tyr1149=) c.2748T= (p.Tyr916=) c.3495T= (p.Tyr1165=) | |
16 | g.3757917A>C | CA394568787 | CREBBP | c.3501T>G (p.Tyr1167Ter) c.3387T>G (p.Tyr1129Ter) c.2106T>G (p.Tyr702Ter) c.3456T>G (p.Tyr1152Ter) c.3084T>G (p.Tyr1028Ter) c.3447T>G (p.Tyr1149Ter) c.2748T>G (p.Tyr916Ter) c.3495T>G (p.Tyr1165Ter) | |
16 | g.3757917A>G | CA493394524 | CREBBP | c.3501T>C (p.Tyr1167=) c.3387T>C (p.Tyr1129=) c.2106T>C (p.Tyr702=) c.3456T>C (p.Tyr1152=) c.3084T>C (p.Tyr1028=) c.3447T>C (p.Tyr1149=) c.2748T>C (p.Tyr916=) c.3495T>C (p.Tyr1165=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3757917A>T | CA394568788 | CREBBP | c.3501T>A (p.Tyr1167Ter) c.3387T>A (p.Tyr1129Ter) c.2106T>A (p.Tyr702Ter) c.3456T>A (p.Tyr1152Ter) c.3084T>A (p.Tyr1028Ter) c.3447T>A (p.Tyr1149Ter) c.2748T>A (p.Tyr916Ter) c.3495T>A (p.Tyr1165Ter) | |
16 | g.3757918T>A | CA394568790 | CREBBP | c.3500A>T (p.Tyr1167Phe) c.3386A>T (p.Tyr1129Phe) c.2105A>T (p.Tyr702Phe) c.3455A>T (p.Tyr1152Phe) c.3083A>T (p.Tyr1028Phe) c.3446A>T (p.Tyr1149Phe) c.2747A>T (p.Tyr916Phe) c.3494A>T (p.Tyr1165Phe) | |
16 | g.3757918T>C | CA271389 | CREBBP | c.3500A>G (p.Tyr1167Cys) c.3386A>G (p.Tyr1129Cys) c.2105A>G (p.Tyr702Cys) c.3455A>G (p.Tyr1152Cys) c.3083A>G (p.Tyr1028Cys) c.3446A>G (p.Tyr1149Cys) c.2747A>G (p.Tyr916Cys) c.3494A>G (p.Tyr1165Cys) | ClinVar dbSNP |
16 | g.3757918T>G | CA394568789 | CREBBP | c.3500A>C (p.Tyr1167Ser) c.3386A>C (p.Tyr1129Ser) c.2105A>C (p.Tyr702Ser) c.3455A>C (p.Tyr1152Ser) c.3083A>C (p.Tyr1028Ser) c.3446A>C (p.Tyr1149Ser) c.2747A>C (p.Tyr916Ser) c.3494A>C (p.Tyr1165Ser) | |
16 | g.3757918T= | CA2202943284 | CREBBP | c.3500A= (p.Tyr1167=) c.3386A= (p.Tyr1129=) c.2105A= (p.Tyr702=) c.3455A= (p.Tyr1152=) c.3083A= (p.Tyr1028=) c.3446A= (p.Tyr1149=) c.2747A= (p.Tyr916=) c.3494A= (p.Tyr1165=) | |
16 | g.3757919A>C | CA394568791 | CREBBP | c.3499T>G (p.Tyr1167Asp) c.3385T>G (p.Tyr1129Asp) c.2104T>G (p.Tyr702Asp) c.3454T>G (p.Tyr1152Asp) c.3082T>G (p.Tyr1028Asp) c.3445T>G (p.Tyr1149Asp) c.2746T>G (p.Tyr916Asp) c.3493T>G (p.Tyr1165Asp) | |
16 | g.3757919A>G | CA394568792 | CREBBP | c.3499T>C (p.Tyr1167His) c.3385T>C (p.Tyr1129His) c.2104T>C (p.Tyr702His) c.3454T>C (p.Tyr1152His) c.3082T>C (p.Tyr1028His) c.3445T>C (p.Tyr1149His) c.2746T>C (p.Tyr916His) c.3493T>C (p.Tyr1165His) | |
16 | g.3757919A>T | CA394568793 | CREBBP | c.3499T>A (p.Tyr1167Asn) c.3385T>A (p.Tyr1129Asn) c.2104T>A (p.Tyr702Asn) c.3454T>A (p.Tyr1152Asn) c.3082T>A (p.Tyr1028Asn) c.3445T>A (p.Tyr1149Asn) c.2746T>A (p.Tyr916Asn) c.3493T>A (p.Tyr1165Asn) | |
16 | g.3757920G>A | CA493394525 | CREBBP | c.3498C>T (p.Leu1166=) c.3384C>T (p.Leu1128=) c.2103C>T (p.Leu701=) c.3453C>T (p.Leu1151=) c.3081C>T (p.Leu1027=) c.3444C>T (p.Leu1148=) c.2745C>T (p.Leu915=) c.3492C>T (p.Leu1164=) | dbSNP gnomAD v4 |
16 | g.3757920G>C | CA7869803 | CREBBP | c.3498C>G (p.Leu1166=) c.3384C>G (p.Leu1128=) c.2103C>G (p.Leu701=) c.3453C>G (p.Leu1151=) c.3081C>G (p.Leu1027=) c.3444C>G (p.Leu1148=) c.2745C>G (p.Leu915=) c.3492C>G (p.Leu1164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3757920G= | CA2202943287 | CREBBP | c.3498C= (p.Leu1166=) c.3384C= (p.Leu1128=) c.2103C= (p.Leu701=) c.3453C= (p.Leu1151=) c.3081C= (p.Leu1027=) c.3444C= (p.Leu1148=) c.2745C= (p.Leu915=) c.3492C= (p.Leu1164=) | |
16 | g.3757920G>T | CA493394526 | CREBBP | c.3498C>A (p.Leu1166=) c.3384C>A (p.Leu1128=) c.2103C>A (p.Leu701=) c.3453C>A (p.Leu1151=) c.3081C>A (p.Leu1027=) c.3444C>A (p.Leu1148=) c.2745C>A (p.Leu915=) c.3492C>A (p.Leu1164=) | |
16 | g.3757921A>C | CA394568794 | CREBBP | c.3497T>G (p.Leu1166Arg) c.3383T>G (p.Leu1128Arg) c.2102T>G (p.Leu701Arg) c.3452T>G (p.Leu1151Arg) c.3080T>G (p.Leu1027Arg) c.3443T>G (p.Leu1148Arg) c.2744T>G (p.Leu915Arg) c.3491T>G (p.Leu1164Arg) | |
16 | g.3757921A>G | CA394568795 | CREBBP | c.3497T>C (p.Leu1166Pro) c.3383T>C (p.Leu1128Pro) c.2102T>C (p.Leu701Pro) c.3452T>C (p.Leu1151Pro) c.3080T>C (p.Leu1027Pro) c.3443T>C (p.Leu1148Pro) c.2744T>C (p.Leu915Pro) c.3491T>C (p.Leu1164Pro) | |
16 | g.3757921A>T | CA394568796 | CREBBP | c.3497T>A (p.Leu1166His) c.3383T>A (p.Leu1128His) c.2102T>A (p.Leu701His) c.3452T>A (p.Leu1151His) c.3080T>A (p.Leu1027His) c.3443T>A (p.Leu1148His) c.2744T>A (p.Leu915His) c.3491T>A (p.Leu1164His) | |
16 | g.3757923_3757926dup | CA2580091116 | CREBBP | c.3494_3497dup (p.Tyr1167AlafsTer3) c.3380_3383dup (p.Tyr1129AlafsTer3) c.2099_2102dup (p.Tyr702AlafsTer3) c.3449_3452dup (p.Tyr1152AlafsTer3) c.3077_3080dup (p.Tyr1028AlafsTer3) c.3440_3443dup (p.Tyr1149AlafsTer3) c.2741_2744dup (p.Tyr916AlafsTer3) c.3488_3491dup (p.Tyr1165AlafsTer3) | ClinVar |
16 | g.3757922G>A | CA394568797 | CREBBP | c.3496C>T (p.Leu1166Phe) c.3382C>T (p.Leu1128Phe) c.2101C>T (p.Leu701Phe) c.3451C>T (p.Leu1151Phe) c.3079C>T (p.Leu1027Phe) c.3442C>T (p.Leu1148Phe) c.2743C>T (p.Leu915Phe) c.3490C>T (p.Leu1164Phe) | |
16 | g.3757922G>C | CA394568798 | CREBBP | c.3496C>G (p.Leu1166Val) c.3382C>G (p.Leu1128Val) c.2101C>G (p.Leu701Val) c.3451C>G (p.Leu1151Val) c.3079C>G (p.Leu1027Val) c.3442C>G (p.Leu1148Val) c.2743C>G (p.Leu915Val) c.3490C>G (p.Leu1164Val) | |
16 | g.3757922G>T | CA394568799 | CREBBP | c.3496C>A (p.Leu1166Ile) c.3382C>A (p.Leu1128Ile) c.2101C>A (p.Leu701Ile) c.3451C>A (p.Leu1151Ile) c.3079C>A (p.Leu1027Ile) c.3442C>A (p.Leu1148Ile) c.2743C>A (p.Leu915Ile) c.3490C>A (p.Leu1164Ile) | |
16 | g.3757923C>A | CA394568800 | CREBBP | c.3495G>T (p.Trp1165Cys) c.3381G>T (p.Trp1127Cys) c.2100G>T (p.Trp700Cys) c.3450G>T (p.Trp1150Cys) c.3078G>T (p.Trp1026Cys) c.3441G>T (p.Trp1147Cys) c.2742G>T (p.Trp914Cys) c.3489G>T (p.Trp1163Cys) | dbSNP |
16 | g.3757923C>G | CA394568801 | CREBBP | c.3495G>C (p.Trp1165Cys) c.3381G>C (p.Trp1127Cys) c.2100G>C (p.Trp700Cys) c.3450G>C (p.Trp1150Cys) c.3078G>C (p.Trp1026Cys) c.3441G>C (p.Trp1147Cys) c.2742G>C (p.Trp914Cys) c.3489G>C (p.Trp1163Cys) | |
16 | g.3757923C>T | CA394568802 | CREBBP | c.3495G>A (p.Trp1165Ter) c.3381G>A (p.Trp1127Ter) c.2100G>A (p.Trp700Ter) c.3450G>A (p.Trp1150Ter) c.3078G>A (p.Trp1026Ter) c.3441G>A (p.Trp1147Ter) c.2742G>A (p.Trp914Ter) c.3489G>A (p.Trp1163Ter) | dbSNP |
16 | g.3757924C>A | CA394568805 | CREBBP | c.3494G>T (p.Trp1165Leu) c.3380G>T (p.Trp1127Leu) c.2099G>T (p.Trp700Leu) c.3449G>T (p.Trp1150Leu) c.3077G>T (p.Trp1026Leu) c.3440G>T (p.Trp1147Leu) c.2741G>T (p.Trp914Leu) c.3488G>T (p.Trp1163Leu) | |
16 | g.3757924C>G | CA394568804 | CREBBP | c.3494G>C (p.Trp1165Ser) c.3380G>C (p.Trp1127Ser) c.2099G>C (p.Trp700Ser) c.3449G>C (p.Trp1150Ser) c.3077G>C (p.Trp1026Ser) c.3440G>C (p.Trp1147Ser) c.2741G>C (p.Trp914Ser) c.3488G>C (p.Trp1163Ser) | |
16 | g.3757924C>T | CA394568803 | CREBBP | c.3494G>A (p.Trp1165Ter) c.3380G>A (p.Trp1127Ter) c.2099G>A (p.Trp700Ter) c.3449G>A (p.Trp1150Ter) c.3077G>A (p.Trp1026Ter) c.3440G>A (p.Trp1147Ter) c.2741G>A (p.Trp914Ter) c.3488G>A (p.Trp1163Ter) | |
16 | g.3757925A>C | CA394568806 | CREBBP | c.3493T>G (p.Trp1165Gly) c.3379T>G (p.Trp1127Gly) c.2098T>G (p.Trp700Gly) c.3448T>G (p.Trp1150Gly) c.3076T>G (p.Trp1026Gly) c.3439T>G (p.Trp1147Gly) c.2740T>G (p.Trp914Gly) c.3487T>G (p.Trp1163Gly) | |
16 | g.3757925A>G | CA394568807 | CREBBP | c.3493T>C (p.Trp1165Arg) c.3379T>C (p.Trp1127Arg) c.2098T>C (p.Trp700Arg) c.3448T>C (p.Trp1150Arg) c.3076T>C (p.Trp1026Arg) c.3439T>C (p.Trp1147Arg) c.2740T>C (p.Trp914Arg) c.3487T>C (p.Trp1163Arg) | COSMIC |
16 | g.3757925A>T | CA394568808 | CREBBP | c.3493T>A (p.Trp1165Arg) c.3379T>A (p.Trp1127Arg) c.2098T>A (p.Trp700Arg) c.3448T>A (p.Trp1150Arg) c.3076T>A (p.Trp1026Arg) c.3439T>A (p.Trp1147Arg) c.2740T>A (p.Trp914Arg) c.3487T>A (p.Trp1163Arg) | |
16 | g.3757926G>A | CA493394527 | CREBBP | c.3492C>T (p.Ala1164=) c.3378C>T (p.Ala1126=) c.2097C>T (p.Ala699=) c.3447C>T (p.Ala1149=) c.3075C>T (p.Ala1025=) c.3438C>T (p.Ala1146=) c.2739C>T (p.Ala913=) c.3486C>T (p.Ala1162=) | |
16 | g.3757926G>C | CA493394528 | CREBBP | c.3492C>G (p.Ala1164=) c.3378C>G (p.Ala1126=) c.2097C>G (p.Ala699=) c.3447C>G (p.Ala1149=) c.3075C>G (p.Ala1025=) c.3438C>G (p.Ala1146=) c.2739C>G (p.Ala913=) c.3486C>G (p.Ala1162=) | gnomAD v4 |
16 | g.3757926G>T | CA493394529 | CREBBP | c.3492C>A (p.Ala1164=) c.3378C>A (p.Ala1126=) c.2097C>A (p.Ala699=) c.3447C>A (p.Ala1149=) c.3075C>A (p.Ala1025=) c.3438C>A (p.Ala1146=) c.2739C>A (p.Ala913=) c.3486C>A (p.Ala1162=) | |
16 | g.3757927G>A | CA394568809 | CREBBP | c.3491C>T (p.Ala1164Val) c.3377C>T (p.Ala1126Val) c.2096C>T (p.Ala699Val) c.3446C>T (p.Ala1149Val) c.3074C>T (p.Ala1025Val) c.3437C>T (p.Ala1146Val) c.2738C>T (p.Ala913Val) c.3485C>T (p.Ala1162Val) | dbSNP |
16 | g.3757927G>C | CA394568810 | CREBBP | c.3491C>G (p.Ala1164Gly) c.3377C>G (p.Ala1126Gly) c.2096C>G (p.Ala699Gly) c.3446C>G (p.Ala1149Gly) c.3074C>G (p.Ala1025Gly) c.3437C>G (p.Ala1146Gly) c.2738C>G (p.Ala913Gly) c.3485C>G (p.Ala1162Gly) | dbSNP |
16 | g.3757927G>T | CA394568811 | CREBBP | c.3491C>A (p.Ala1164Asp) c.3377C>A (p.Ala1126Asp) c.2096C>A (p.Ala699Asp) c.3446C>A (p.Ala1149Asp) c.3074C>A (p.Ala1025Asp) c.3437C>A (p.Ala1146Asp) c.2738C>A (p.Ala913Asp) c.3485C>A (p.Ala1162Asp) | |
16 | g.3757928C>A | CA394568812 | CREBBP | c.3490G>T (p.Ala1164Ser) c.3376G>T (p.Ala1126Ser) c.2095G>T (p.Ala699Ser) c.3445G>T (p.Ala1149Ser) c.3073G>T (p.Ala1025Ser) c.3436G>T (p.Ala1146Ser) c.2737G>T (p.Ala913Ser) c.3484G>T (p.Ala1162Ser) | |
16 | g.3757928C= | CA2202943292 | CREBBP | c.3490G= (p.Ala1164=) c.3376G= (p.Ala1126=) c.2095G= (p.Ala699=) c.3445G= (p.Ala1149=) c.3073G= (p.Ala1025=) c.3436G= (p.Ala1146=) c.2737G= (p.Ala913=) c.3484G= (p.Ala1162=) | |
16 | g.3757928C>G | CA277012 | CREBBP | c.3490G>C (p.Ala1164Pro) c.3376G>C (p.Ala1126Pro) c.2095G>C (p.Ala699Pro) c.3445G>C (p.Ala1149Pro) c.3073G>C (p.Ala1025Pro) c.3436G>C (p.Ala1146Pro) c.2737G>C (p.Ala913Pro) c.3484G>C (p.Ala1162Pro) | ClinVar dbSNP |
16 | g.3757928C>T | CA394568813 | CREBBP | c.3490G>A (p.Ala1164Thr) c.3376G>A (p.Ala1126Thr) c.2095G>A (p.Ala699Thr) c.3445G>A (p.Ala1149Thr) c.3073G>A (p.Ala1025Thr) c.3436G>A (p.Ala1146Thr) c.2737G>A (p.Ala913Thr) c.3484G>A (p.Ala1162Thr) | dbSNP |
16 | g.3757929A= | CA2202943297 | CREBBP | c.3489T= (p.Asn1163=) c.3375T= (p.Asn1125=) c.2094T= (p.Asn698=) c.3444T= (p.Asn1148=) c.3072T= (p.Asn1024=) c.3435T= (p.Asn1145=) c.2736T= (p.Asn912=) c.3483T= (p.Asn1161=) | |
16 | g.3757929A>C | CA394568814 | CREBBP | c.3489T>G (p.Asn1163Lys) c.3375T>G (p.Asn1125Lys) c.2094T>G (p.Asn698Lys) c.3444T>G (p.Asn1148Lys) c.3072T>G (p.Asn1024Lys) c.3435T>G (p.Asn1145Lys) c.2736T>G (p.Asn912Lys) c.3483T>G (p.Asn1161Lys) | |
16 | g.3757929A>G | CA493394530 | CREBBP | c.3489T>C (p.Asn1163=) c.3375T>C (p.Asn1125=) c.2094T>C (p.Asn698=) c.3444T>C (p.Asn1148=) c.3072T>C (p.Asn1024=) c.3435T>C (p.Asn1145=) c.2736T>C (p.Asn912=) c.3483T>C (p.Asn1161=) | dbSNP |
16 | g.3757929A>T | CA394568815 | CREBBP | c.3489T>A (p.Asn1163Lys) c.3375T>A (p.Asn1125Lys) c.2094T>A (p.Asn698Lys) c.3444T>A (p.Asn1148Lys) c.3072T>A (p.Asn1024Lys) c.3435T>A (p.Asn1145Lys) c.2736T>A (p.Asn912Lys) c.3483T>A (p.Asn1161Lys) | |
16 | g.3757930T>A | CA394568816 | CREBBP | c.3488A>T (p.Asn1163Ile) c.3374A>T (p.Asn1125Ile) c.2093A>T (p.Asn698Ile) c.3443A>T (p.Asn1148Ile) c.3071A>T (p.Asn1024Ile) c.3434A>T (p.Asn1145Ile) c.2735A>T (p.Asn912Ile) c.3482A>T (p.Asn1161Ile) | ClinVar dbSNP |
16 | g.3757930T>C | CA394568817 | CREBBP | c.3488A>G (p.Asn1163Ser) c.3374A>G (p.Asn1125Ser) c.2093A>G (p.Asn698Ser) c.3443A>G (p.Asn1148Ser) c.3071A>G (p.Asn1024Ser) c.3434A>G (p.Asn1145Ser) c.2735A>G (p.Asn912Ser) c.3482A>G (p.Asn1161Ser) | |
16 | g.3757930T>G | CA394568818 | CREBBP | c.3488A>C (p.Asn1163Thr) c.3374A>C (p.Asn1125Thr) c.2093A>C (p.Asn698Thr) c.3443A>C (p.Asn1148Thr) c.3071A>C (p.Asn1024Thr) c.3434A>C (p.Asn1145Thr) c.2735A>C (p.Asn912Thr) c.3482A>C (p.Asn1161Thr) | |
16 | g.3757930T= | CA2202943300 | CREBBP | c.3488A= (p.Asn1163=) c.3374A= (p.Asn1125=) c.2093A= (p.Asn698=) c.3443A= (p.Asn1148=) c.3071A= (p.Asn1024=) c.3434A= (p.Asn1145=) c.2735A= (p.Asn912=) c.3482A= (p.Asn1161=) | |
16 | g.3757931T>A | CA394568820 | CREBBP | c.3487A>T (p.Asn1163Tyr) c.3373A>T (p.Asn1125Tyr) c.2092A>T (p.Asn698Tyr) c.3442A>T (p.Asn1148Tyr) c.3070A>T (p.Asn1024Tyr) c.3433A>T (p.Asn1145Tyr) c.2734A>T (p.Asn912Tyr) c.3481A>T (p.Asn1161Tyr) | |
16 | g.3757931T>C | CA394568821 | CREBBP | c.3487A>G (p.Asn1163Asp) c.3373A>G (p.Asn1125Asp) c.2092A>G (p.Asn698Asp) c.3442A>G (p.Asn1148Asp) c.3070A>G (p.Asn1024Asp) c.3433A>G (p.Asn1145Asp) c.2734A>G (p.Asn912Asp) c.3481A>G (p.Asn1161Asp) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3757931T>G | CA394568819 | CREBBP | c.3487A>C (p.Asn1163His) c.3373A>C (p.Asn1125His) c.2092A>C (p.Asn698His) c.3442A>C (p.Asn1148His) c.3070A>C (p.Asn1024His) c.3433A>C (p.Asn1145His) c.2734A>C (p.Asn912His) c.3481A>C (p.Asn1161His) | |
16 | g.3757931T= | CA2202943303 | CREBBP | c.3487A= (p.Asn1163=) c.3373A= (p.Asn1125=) c.2092A= (p.Asn698=) c.3442A= (p.Asn1148=) c.3070A= (p.Asn1024=) c.3433A= (p.Asn1145=) c.2734A= (p.Asn912=) c.3481A= (p.Asn1161=) | |
16 | g.3757932G>A | CA493394531 | CREBBP | c.3486C>T (p.Asn1162=) c.3372C>T (p.Asn1124=) c.2091C>T (p.Asn697=) c.3441C>T (p.Asn1147=) c.3069C>T (p.Asn1023=) c.3432C>T (p.Asn1144=) c.2733C>T (p.Asn911=) c.3480C>T (p.Asn1160=) | dbSNP gnomAD v4 |
16 | g.3757932G>C | CA394568822 | CREBBP | c.3486C>G (p.Asn1162Lys) c.3372C>G (p.Asn1124Lys) c.2091C>G (p.Asn697Lys) c.3441C>G (p.Asn1147Lys) c.3069C>G (p.Asn1023Lys) c.3432C>G (p.Asn1144Lys) c.2733C>G (p.Asn911Lys) c.3480C>G (p.Asn1160Lys) | |
16 | g.3757932G>T | CA394568823 | CREBBP | c.3486C>A (p.Asn1162Lys) c.3372C>A (p.Asn1124Lys) c.2091C>A (p.Asn697Lys) c.3441C>A (p.Asn1147Lys) c.3069C>A (p.Asn1023Lys) c.3432C>A (p.Asn1144Lys) c.2733C>A (p.Asn911Lys) c.3480C>A (p.Asn1160Lys) | |
16 | g.3757933T>A | CA394568824 | CREBBP | c.3485A>T (p.Asn1162Ile) c.3371A>T (p.Asn1124Ile) c.2090A>T (p.Asn697Ile) c.3440A>T (p.Asn1147Ile) c.3068A>T (p.Asn1023Ile) c.3431A>T (p.Asn1144Ile) c.2732A>T (p.Asn911Ile) c.3479A>T (p.Asn1160Ile) | |
16 | g.3757933T>C | CA7869804 | CREBBP | c.3485A>G (p.Asn1162Ser) c.3371A>G (p.Asn1124Ser) c.2090A>G (p.Asn697Ser) c.3440A>G (p.Asn1147Ser) c.3068A>G (p.Asn1023Ser) c.3431A>G (p.Asn1144Ser) c.2732A>G (p.Asn911Ser) c.3479A>G (p.Asn1160Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3757933T>G | CA394568825 | CREBBP | c.3485A>C (p.Asn1162Thr) c.3371A>C (p.Asn1124Thr) c.2090A>C (p.Asn697Thr) c.3440A>C (p.Asn1147Thr) c.3068A>C (p.Asn1023Thr) c.3431A>C (p.Asn1144Thr) c.2732A>C (p.Asn911Thr) c.3479A>C (p.Asn1160Thr) | gnomAD v4 |
16 | g.3757933T= | CA2202943306 | CREBBP | c.3485A= (p.Asn1162=) c.3371A= (p.Asn1124=) c.2090A= (p.Asn697=) c.3440A= (p.Asn1147=) c.3068A= (p.Asn1023=) c.3431A= (p.Asn1144=) c.2732A= (p.Asn911=) c.3479A= (p.Asn1160=) | |
16 | g.3757934T>A | CA394568826 | CREBBP | c.3484A>T (p.Asn1162Tyr) c.3370A>T (p.Asn1124Tyr) c.2089A>T (p.Asn697Tyr) c.3439A>T (p.Asn1147Tyr) c.3067A>T (p.Asn1023Tyr) c.3430A>T (p.Asn1144Tyr) c.2731A>T (p.Asn911Tyr) c.3478A>T (p.Asn1160Tyr) | |
16 | g.3757934T>C | CA394568827 | CREBBP | c.3484A>G (p.Asn1162Asp) c.3370A>G (p.Asn1124Asp) c.2089A>G (p.Asn697Asp) c.3439A>G (p.Asn1147Asp) c.3067A>G (p.Asn1023Asp) c.3430A>G (p.Asn1144Asp) c.2731A>G (p.Asn911Asp) c.3478A>G (p.Asn1160Asp) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.3757934T>G | CA394568828 | CREBBP | c.3484A>C (p.Asn1162His) c.3370A>C (p.Asn1124His) c.2089A>C (p.Asn697His) c.3439A>C (p.Asn1147His) c.3067A>C (p.Asn1023His) c.3430A>C (p.Asn1144His) c.2731A>C (p.Asn911His) c.3478A>C (p.Asn1160His) | gnomAD v4 |
16 | g.3757934T= | CA2202943310 | CREBBP | c.3484A= (p.Asn1162=) c.3370A= (p.Asn1124=) c.2089A= (p.Asn697=) c.3439A= (p.Asn1147=) c.3067A= (p.Asn1023=) c.3430A= (p.Asn1144=) c.2731A= (p.Asn911=) c.3478A= (p.Asn1160=) | |
16 | g.3757935G>A | CA493394532 | CREBBP | c.3483C>T (p.Phe1161=) c.3369C>T (p.Phe1123=) c.2088C>T (p.Phe696=) c.3438C>T (p.Phe1146=) c.3066C>T (p.Phe1022=) c.3429C>T (p.Phe1143=) c.2730C>T (p.Phe910=) c.3477C>T (p.Phe1159=) | dbSNP COSMIC |
16 | g.3757935G>C | CA394568829 | CREBBP | c.3483C>G (p.Phe1161Leu) c.3369C>G (p.Phe1123Leu) c.2088C>G (p.Phe696Leu) c.3438C>G (p.Phe1146Leu) c.3066C>G (p.Phe1022Leu) c.3429C>G (p.Phe1143Leu) c.2730C>G (p.Phe910Leu) c.3477C>G (p.Phe1159Leu) | |
16 | g.3757935G>T | CA394568830 | CREBBP | c.3483C>A (p.Phe1161Leu) c.3369C>A (p.Phe1123Leu) c.2088C>A (p.Phe696Leu) c.3438C>A (p.Phe1146Leu) c.3066C>A (p.Phe1022Leu) c.3429C>A (p.Phe1143Leu) c.2730C>A (p.Phe910Leu) c.3477C>A (p.Phe1159Leu) | |
16 | g.3757936A>C | CA394568831 | CREBBP | c.3482T>G (p.Phe1161Cys) c.3368T>G (p.Phe1123Cys) c.2087T>G (p.Phe696Cys) c.3437T>G (p.Phe1146Cys) c.3065T>G (p.Phe1022Cys) c.3428T>G (p.Phe1143Cys) c.2729T>G (p.Phe910Cys) c.3476T>G (p.Phe1159Cys) | |
16 | g.3757936A>G | CA394568832 | CREBBP | c.3482T>C (p.Phe1161Ser) c.3368T>C (p.Phe1123Ser) c.2087T>C (p.Phe696Ser) c.3437T>C (p.Phe1146Ser) c.3065T>C (p.Phe1022Ser) c.3428T>C (p.Phe1143Ser) c.2729T>C (p.Phe910Ser) c.3476T>C (p.Phe1159Ser) | |
16 | g.3757936A>T | CA394568833 | CREBBP | c.3482T>A (p.Phe1161Tyr) c.3368T>A (p.Phe1123Tyr) c.2087T>A (p.Phe696Tyr) c.3437T>A (p.Phe1146Tyr) c.3065T>A (p.Phe1022Tyr) c.3428T>A (p.Phe1143Tyr) c.2729T>A (p.Phe910Tyr) c.3476T>A (p.Phe1159Tyr) | |
16 | g.3757937A>C | CA394568836 | CREBBP | c.3481T>G (p.Phe1161Val) c.3367T>G (p.Phe1123Val) c.2086T>G (p.Phe696Val) c.3436T>G (p.Phe1146Val) c.3064T>G (p.Phe1022Val) c.3427T>G (p.Phe1143Val) c.2728T>G (p.Phe910Val) c.3475T>G (p.Phe1159Val) | |
16 | g.3757937A>G | CA394568834 | CREBBP | c.3481T>C (p.Phe1161Leu) c.3367T>C (p.Phe1123Leu) c.2086T>C (p.Phe696Leu) c.3436T>C (p.Phe1146Leu) c.3064T>C (p.Phe1022Leu) c.3427T>C (p.Phe1143Leu) c.2728T>C (p.Phe910Leu) c.3475T>C (p.Phe1159Leu) | |
16 | g.3757937A>T | CA394568835 | CREBBP | c.3481T>A (p.Phe1161Ile) c.3367T>A (p.Phe1123Ile) c.2086T>A (p.Phe696Ile) c.3436T>A (p.Phe1146Ile) c.3064T>A (p.Phe1022Ile) c.3427T>A (p.Phe1143Ile) c.2728T>A (p.Phe910Ile) c.3475T>A (p.Phe1159Ile) | |
16 | g.3757938C>A | CA394568837 | CREBBP | c.3480G>T (p.Met1160Ile) c.3366G>T (p.Met1122Ile) c.2085G>T (p.Met695Ile) c.3435G>T (p.Met1145Ile) c.3063G>T (p.Met1021Ile) c.3426G>T (p.Met1142Ile) c.2727G>T (p.Met909Ile) c.3474G>T (p.Met1158Ile) | |
16 | g.3757938C>G | CA394568838 | CREBBP | c.3480G>C (p.Met1160Ile) c.3366G>C (p.Met1122Ile) c.2085G>C (p.Met695Ile) c.3435G>C (p.Met1145Ile) c.3063G>C (p.Met1021Ile) c.3426G>C (p.Met1142Ile) c.2727G>C (p.Met909Ile) c.3474G>C (p.Met1158Ile) | |
16 | g.3757938C>T | CA394568839 | CREBBP | c.3480G>A (p.Met1160Ile) c.3366G>A (p.Met1122Ile) c.2085G>A (p.Met695Ile) c.3435G>A (p.Met1145Ile) c.3063G>A (p.Met1021Ile) c.3426G>A (p.Met1142Ile) c.2727G>A (p.Met909Ile) c.3474G>A (p.Met1158Ile) | gnomAD v4 |
16 | g.3757939A>C | CA394568840 | CREBBP | c.3479T>G (p.Met1160Arg) c.3365T>G (p.Met1122Arg) c.2084T>G (p.Met695Arg) c.3434T>G (p.Met1145Arg) c.3062T>G (p.Met1021Arg) c.3425T>G (p.Met1142Arg) c.2726T>G (p.Met909Arg) c.3473T>G (p.Met1158Arg) | |
16 | g.3757939A>G | CA394568841 | CREBBP | c.3479T>C (p.Met1160Thr) c.3365T>C (p.Met1122Thr) c.2084T>C (p.Met695Thr) c.3434T>C (p.Met1145Thr) c.3062T>C (p.Met1021Thr) c.3425T>C (p.Met1142Thr) c.2726T>C (p.Met909Thr) c.3473T>C (p.Met1158Thr) | |
16 | g.3757939A>T | CA394568842 | CREBBP | c.3479T>A (p.Met1160Lys) c.3365T>A (p.Met1122Lys) c.2084T>A (p.Met695Lys) c.3434T>A (p.Met1145Lys) c.3062T>A (p.Met1021Lys) c.3425T>A (p.Met1142Lys) c.2726T>A (p.Met909Lys) c.3473T>A (p.Met1158Lys) | |
16 | g.3757940T>A | CA394568843 | CREBBP | c.3478A>T (p.Met1160Leu) c.3364A>T (p.Met1122Leu) c.2083A>T (p.Met695Leu) c.3433A>T (p.Met1145Leu) c.3061A>T (p.Met1021Leu) c.3424A>T (p.Met1142Leu) c.2725A>T (p.Met909Leu) c.3472A>T (p.Met1158Leu) | |
16 | g.3757940T>C | CA394568844 | CREBBP | c.3478A>G (p.Met1160Val) c.3364A>G (p.Met1122Val) c.2083A>G (p.Met695Val) c.3433A>G (p.Met1145Val) c.3061A>G (p.Met1021Val) c.3424A>G (p.Met1142Val) c.2725A>G (p.Met909Val) c.3472A>G (p.Met1158Val) | COSMIC |
16 | g.3757940T>G | CA394568845 | CREBBP | c.3478A>C (p.Met1160Leu) c.3364A>C (p.Met1122Leu) c.2083A>C (p.Met695Leu) c.3433A>C (p.Met1145Leu) c.3061A>C (p.Met1021Leu) c.3424A>C (p.Met1142Leu) c.2725A>C (p.Met909Leu) c.3472A>C (p.Met1158Leu) | |
16 | g.3757941G>A | CA493394533 | CREBBP | c.3477C>T (p.Leu1159=) c.3363C>T (p.Leu1121=) c.2082C>T (p.Leu694=) c.3432C>T (p.Leu1144=) c.3060C>T (p.Leu1020=) c.3423C>T (p.Leu1141=) c.2724C>T (p.Leu908=) c.3471C>T (p.Leu1157=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3757941G>C | CA493394534 | CREBBP | c.3477C>G (p.Leu1159=) c.3363C>G (p.Leu1121=) c.2082C>G (p.Leu694=) c.3432C>G (p.Leu1144=) c.3060C>G (p.Leu1020=) c.3423C>G (p.Leu1141=) c.2724C>G (p.Leu908=) c.3471C>G (p.Leu1157=) | |
16 | g.3757941G= | CA2202943314 | CREBBP | c.3477C= (p.Leu1159=) c.3363C= (p.Leu1121=) c.2082C= (p.Leu694=) c.3432C= (p.Leu1144=) c.3060C= (p.Leu1020=) c.3423C= (p.Leu1141=) c.2724C= (p.Leu908=) c.3471C= (p.Leu1157=) | |
16 | g.3757941G>T | CA493394535 | CREBBP | c.3477C>A (p.Leu1159=) c.3363C>A (p.Leu1121=) c.2082C>A (p.Leu694=) c.3432C>A (p.Leu1144=) c.3060C>A (p.Leu1020=) c.3423C>A (p.Leu1141=) c.2724C>A (p.Leu908=) c.3471C>A (p.Leu1157=) | ClinVar dbSNP gnomAD v4 |
16 | g.3757942A>C | CA394568846 | CREBBP | c.3476T>G (p.Leu1159Arg) c.3362T>G (p.Leu1121Arg) c.2081T>G (p.Leu694Arg) c.3431T>G (p.Leu1144Arg) c.3059T>G (p.Leu1020Arg) c.3422T>G (p.Leu1141Arg) c.2723T>G (p.Leu908Arg) c.3470T>G (p.Leu1157Arg) | |
16 | g.3757942A>G | CA394568847 | CREBBP | c.3476T>C (p.Leu1159Pro) c.3362T>C (p.Leu1121Pro) c.2081T>C (p.Leu694Pro) c.3431T>C (p.Leu1144Pro) c.3059T>C (p.Leu1020Pro) c.3422T>C (p.Leu1141Pro) c.2723T>C (p.Leu908Pro) c.3470T>C (p.Leu1157Pro) | |
16 | g.3757942A>T | CA394568848 | CREBBP | c.3476T>A (p.Leu1159His) c.3362T>A (p.Leu1121His) c.2081T>A (p.Leu694His) c.3431T>A (p.Leu1144His) c.3059T>A (p.Leu1020His) c.3422T>A (p.Leu1141His) c.2723T>A (p.Leu908His) c.3470T>A (p.Leu1157His) | dbSNP |
16 | g.3757943G>A | CA394568851 | CREBBP | c.3475C>T (p.Leu1159Phe) c.3361C>T (p.Leu1121Phe) c.2080C>T (p.Leu694Phe) c.3430C>T (p.Leu1144Phe) c.3058C>T (p.Leu1020Phe) c.3421C>T (p.Leu1141Phe) c.2722C>T (p.Leu908Phe) c.3469C>T (p.Leu1157Phe) | |
16 | g.3757943G>C | CA394568850 | CREBBP | c.3475C>G (p.Leu1159Val) c.3361C>G (p.Leu1121Val) c.2080C>G (p.Leu694Val) c.3430C>G (p.Leu1144Val) c.3058C>G (p.Leu1020Val) c.3421C>G (p.Leu1141Val) c.2722C>G (p.Leu908Val) c.3469C>G (p.Leu1157Val) | dbSNP gnomAD v4 |
16 | g.3757943G>T | CA394568849 | CREBBP | c.3475C>A (p.Leu1159Ile) c.3361C>A (p.Leu1121Ile) c.2080C>A (p.Leu694Ile) c.3430C>A (p.Leu1144Ile) c.3058C>A (p.Leu1020Ile) c.3421C>A (p.Leu1141Ile) c.2722C>A (p.Leu908Ile) c.3469C>A (p.Leu1157Ile) | |
16 | g.3757943dup | CA2695222805 | CREBBP | c.3475dup (p.Leu1159ProfsTer10) c.3361dup (p.Leu1121ProfsTer10) c.2080dup (p.Leu694ProfsTer10) c.3430dup (p.Leu1144ProfsTer10) c.3058dup (p.Leu1020ProfsTer10) c.3421dup (p.Leu1141ProfsTer10) c.2722dup (p.Leu908ProfsTer10) c.3469dup (p.Leu1157ProfsTer10) | |
16 | g.3757944C>A | CA394568852 | CREBBP | c.3474G>T (p.Trp1158Cys) c.3360G>T (p.Trp1120Cys) c.2079G>T (p.Trp693Cys) c.3429G>T (p.Trp1143Cys) c.3057G>T (p.Trp1019Cys) c.3420G>T (p.Trp1140Cys) c.2721G>T (p.Trp907Cys) c.3468G>T (p.Trp1156Cys) | dbSNP |
16 | g.3757944C= | CA2202943319 | CREBBP | c.3474G= (p.Trp1158=) c.3360G= (p.Trp1120=) c.2079G= (p.Trp693=) c.3429G= (p.Trp1143=) c.3057G= (p.Trp1019=) c.3420G= (p.Trp1140=) c.2721G= (p.Trp907=) c.3468G= (p.Trp1156=) | |
16 | g.3757944C>G | CA394568854 | CREBBP | c.3474G>C (p.Trp1158Cys) c.3360G>C (p.Trp1120Cys) c.2079G>C (p.Trp693Cys) c.3429G>C (p.Trp1143Cys) c.3057G>C (p.Trp1019Cys) c.3420G>C (p.Trp1140Cys) c.2721G>C (p.Trp907Cys) c.3468G>C (p.Trp1156Cys) | dbSNP |
16 | g.3757944C>T | CA394568853 | CREBBP | c.3474G>A (p.Trp1158Ter) c.3360G>A (p.Trp1120Ter) c.2079G>A (p.Trp693Ter) c.3429G>A (p.Trp1143Ter) c.3057G>A (p.Trp1019Ter) c.3420G>A (p.Trp1140Ter) c.2721G>A (p.Trp907Ter) c.3468G>A (p.Trp1156Ter) | dbSNP |
16 | g.3757945C>A | CA394568855 | CREBBP | c.3473G>T (p.Trp1158Leu) c.3359G>T (p.Trp1120Leu) c.2078G>T (p.Trp693Leu) c.3428G>T (p.Trp1143Leu) c.3056G>T (p.Trp1019Leu) c.3419G>T (p.Trp1140Leu) c.2720G>T (p.Trp907Leu) c.3467G>T (p.Trp1156Leu) | |
16 | g.3757945C>G | CA394568857 | CREBBP | c.3473G>C (p.Trp1158Ser) c.3359G>C (p.Trp1120Ser) c.2078G>C (p.Trp693Ser) c.3428G>C (p.Trp1143Ser) c.3056G>C (p.Trp1019Ser) c.3419G>C (p.Trp1140Ser) c.2720G>C (p.Trp907Ser) c.3467G>C (p.Trp1156Ser) | ClinVar |
16 | g.3757945C>T | CA394568856 | CREBBP | c.3473G>A (p.Trp1158Ter) c.3359G>A (p.Trp1120Ter) c.2078G>A (p.Trp693Ter) c.3428G>A (p.Trp1143Ter) c.3056G>A (p.Trp1019Ter) c.3419G>A (p.Trp1140Ter) c.2720G>A (p.Trp907Ter) c.3467G>A (p.Trp1156Ter) | dbSNP |
16 | g.3757946A= | CA2202943323 | CREBBP | c.3472T= (p.Trp1158=) c.3358T= (p.Trp1120=) c.2077T= (p.Trp693=) c.3427T= (p.Trp1143=) c.3055T= (p.Trp1019=) c.3418T= (p.Trp1140=) c.2719T= (p.Trp907=) c.3466T= (p.Trp1156=) | |
16 | g.3757946A>C | CA394568858 | CREBBP | c.3472T>G (p.Trp1158Gly) c.3358T>G (p.Trp1120Gly) c.2077T>G (p.Trp693Gly) c.3427T>G (p.Trp1143Gly) c.3055T>G (p.Trp1019Gly) c.3418T>G (p.Trp1140Gly) c.2719T>G (p.Trp907Gly) c.3466T>G (p.Trp1156Gly) | |
16 | g.3757946A>G | CA394568860 | CREBBP | c.3472T>C (p.Trp1158Arg) c.3358T>C (p.Trp1120Arg) c.2077T>C (p.Trp693Arg) c.3427T>C (p.Trp1143Arg) c.3055T>C (p.Trp1019Arg) c.3418T>C (p.Trp1140Arg) c.2719T>C (p.Trp907Arg) c.3466T>C (p.Trp1156Arg) | dbSNP |
16 | g.3757946A>T | CA394568859 | CREBBP | c.3472T>A (p.Trp1158Arg) c.3358T>A (p.Trp1120Arg) c.2077T>A (p.Trp693Arg) c.3427T>A (p.Trp1143Arg) c.3055T>A (p.Trp1019Arg) c.3418T>A (p.Trp1140Arg) c.2719T>A (p.Trp907Arg) c.3466T>A (p.Trp1156Arg) | |
16 | g.3757947G>A | CA493394536 | CREBBP | c.3471C>T (p.Val1157=) c.3357C>T (p.Val1119=) c.2076C>T (p.Val692=) c.3426C>T (p.Val1142=) c.3054C>T (p.Val1018=) c.3417C>T (p.Val1139=) c.2718C>T (p.Val906=) c.3465C>T (p.Val1155=) | dbSNP |
16 | g.3757947G>C | CA493394537 | CREBBP | c.3471C>G (p.Val1157=) c.3357C>G (p.Val1119=) c.2076C>G (p.Val692=) c.3426C>G (p.Val1142=) c.3054C>G (p.Val1018=) c.3417C>G (p.Val1139=) c.2718C>G (p.Val906=) c.3465C>G (p.Val1155=) | dbSNP |
16 | g.3757947G>T | CA493394538 | CREBBP | c.3471C>A (p.Val1157=) c.3357C>A (p.Val1119=) c.2076C>A (p.Val692=) c.3426C>A (p.Val1142=) c.3054C>A (p.Val1018=) c.3417C>A (p.Val1139=) c.2718C>A (p.Val906=) c.3465C>A (p.Val1155=) | dbSNP |
16 | g.3757948A>C | CA394568861 | CREBBP | c.3470T>G (p.Val1157Gly) c.3356T>G (p.Val1119Gly) c.2075T>G (p.Val692Gly) c.3425T>G (p.Val1142Gly) c.3053T>G (p.Val1018Gly) c.3416T>G (p.Val1139Gly) c.2717T>G (p.Val906Gly) c.3464T>G (p.Val1155Gly) | |
16 | g.3757948A>G | CA394568862 | CREBBP | c.3470T>C (p.Val1157Ala) c.3356T>C (p.Val1119Ala) c.2075T>C (p.Val692Ala) c.3425T>C (p.Val1142Ala) c.3053T>C (p.Val1018Ala) c.3416T>C (p.Val1139Ala) c.2717T>C (p.Val906Ala) c.3464T>C (p.Val1155Ala) | |
16 | g.3757948A>T | CA394568863 | CREBBP | c.3470T>A (p.Val1157Asp) c.3356T>A (p.Val1119Asp) c.2075T>A (p.Val692Asp) c.3425T>A (p.Val1142Asp) c.3053T>A (p.Val1018Asp) c.3416T>A (p.Val1139Asp) c.2717T>A (p.Val906Asp) c.3464T>A (p.Val1155Asp) | dbSNP |
16 | g.3757949C>A | CA394568864 | CREBBP | c.3469G>T (p.Val1157Phe) c.3355G>T (p.Val1119Phe) c.2074G>T (p.Val692Phe) c.3424G>T (p.Val1142Phe) c.3052G>T (p.Val1018Phe) c.3415G>T (p.Val1139Phe) c.2716G>T (p.Val906Phe) c.3463G>T (p.Val1155Phe) | dbSNP |
16 | g.3757949C= | CA2202943327 | CREBBP | c.3469G= (p.Val1157=) c.3355G= (p.Val1119=) c.2074G= (p.Val692=) c.3424G= (p.Val1142=) c.3052G= (p.Val1018=) c.3415G= (p.Val1139=) c.2716G= (p.Val906=) c.3463G= (p.Val1155=) | |
16 | g.3757949C>G | CA7869805 | CREBBP | c.3469G>C (p.Val1157Leu) c.3355G>C (p.Val1119Leu) c.2074G>C (p.Val692Leu) c.3424G>C (p.Val1142Leu) c.3052G>C (p.Val1018Leu) c.3415G>C (p.Val1139Leu) c.2716G>C (p.Val906Leu) c.3463G>C (p.Val1155Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3757949C>T | CA7869806 | CREBBP | c.3469G>A (p.Val1157Ile) c.3355G>A (p.Val1119Ile) c.2074G>A (p.Val692Ile) c.3424G>A (p.Val1142Ile) c.3052G>A (p.Val1018Ile) c.3415G>A (p.Val1139Ile) c.2716G>A (p.Val906Ile) c.3463G>A (p.Val1155Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3757950G>A | CA7869807 | CREBBP | c.3468C>T (p.Asp1156=) c.3354C>T (p.Asp1118=) c.2073C>T (p.Asp691=) c.3423C>T (p.Asp1141=) c.3051C>T (p.Asp1017=) c.3414C>T (p.Asp1138=) c.2715C>T (p.Asp905=) c.3462C>T (p.Asp1154=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.3757950G>C | CA394568865 | CREBBP | c.3468C>G (p.Asp1156Glu) c.3354C>G (p.Asp1118Glu) c.2073C>G (p.Asp691Glu) c.3423C>G (p.Asp1141Glu) c.3051C>G (p.Asp1017Glu) c.3414C>G (p.Asp1138Glu) c.2715C>G (p.Asp905Glu) c.3462C>G (p.Asp1154Glu) | dbSNP |
16 | g.3757950G= | CA2202943333 | CREBBP | c.3468C= (p.Asp1156=) c.3354C= (p.Asp1118=) c.2073C= (p.Asp691=) c.3423C= (p.Asp1141=) c.3051C= (p.Asp1017=) c.3414C= (p.Asp1138=) c.2715C= (p.Asp905=) c.3462C= (p.Asp1154=) | |
16 | g.3757950G>T | CA394568866 | CREBBP | c.3468C>A (p.Asp1156Glu) c.3354C>A (p.Asp1118Glu) c.2073C>A (p.Asp691Glu) c.3423C>A (p.Asp1141Glu) c.3051C>A (p.Asp1017Glu) c.3414C>A (p.Asp1138Glu) c.2715C>A (p.Asp905Glu) c.3462C>A (p.Asp1154Glu) | |
16 | g.3757951T>A | CA394568867 | CREBBP | c.3467A>T (p.Asp1156Val) c.3353A>T (p.Asp1118Val) c.2072A>T (p.Asp691Val) c.3422A>T (p.Asp1141Val) c.3050A>T (p.Asp1017Val) c.3413A>T (p.Asp1138Val) c.2714A>T (p.Asp905Val) c.3461A>T (p.Asp1154Val) | |
16 | g.3757951T>C | CA394568868 | CREBBP | c.3467A>G (p.Asp1156Gly) c.3353A>G (p.Asp1118Gly) c.2072A>G (p.Asp691Gly) c.3422A>G (p.Asp1141Gly) c.3050A>G (p.Asp1017Gly) c.3413A>G (p.Asp1138Gly) c.2714A>G (p.Asp905Gly) c.3461A>G (p.Asp1154Gly) | |
16 | g.3757951T>G | CA394568869 | CREBBP | c.3467A>C (p.Asp1156Ala) c.3353A>C (p.Asp1118Ala) c.2072A>C (p.Asp691Ala) c.3422A>C (p.Asp1141Ala) c.3050A>C (p.Asp1017Ala) c.3413A>C (p.Asp1138Ala) c.2714A>C (p.Asp905Ala) c.3461A>C (p.Asp1154Ala) | |
16 | g.3757952C>A | CA394568870 | CREBBP | c.3466G>T (p.Asp1156Tyr) c.3352G>T (p.Asp1118Tyr) c.2071G>T (p.Asp691Tyr) c.3421G>T (p.Asp1141Tyr) c.3049G>T (p.Asp1017Tyr) c.3412G>T (p.Asp1138Tyr) c.2713G>T (p.Asp905Tyr) c.3460G>T (p.Asp1154Tyr) | dbSNP |
16 | g.3757952C= | CA2202943334 | CREBBP | c.3466G= (p.Asp1156=) c.3352G= (p.Asp1118=) c.2071G= (p.Asp691=) c.3421G= (p.Asp1141=) c.3049G= (p.Asp1017=) c.3412G= (p.Asp1138=) c.2713G= (p.Asp905=) c.3460G= (p.Asp1154=) | |
16 | g.3757952C>G | CA394568871 | CREBBP | c.3466G>C (p.Asp1156His) c.3352G>C (p.Asp1118His) c.2071G>C (p.Asp691His) c.3421G>C (p.Asp1141His) c.3049G>C (p.Asp1017His) c.3412G>C (p.Asp1138His) c.2713G>C (p.Asp905His) c.3460G>C (p.Asp1154His) | dbSNP |
16 | g.3757952C>T | CA7869808 | CREBBP | c.3466G>A (p.Asp1156Asn) c.3352G>A (p.Asp1118Asn) c.2071G>A (p.Asp691Asn) c.3421G>A (p.Asp1141Asn) c.3049G>A (p.Asp1017Asn) c.3412G>A (p.Asp1138Asn) c.2713G>A (p.Asp905Asn) c.3460G>A (p.Asp1154Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3757953G>A | CA493394539 | CREBBP | c.3465C>T (p.Asp1155=) c.3351C>T (p.Asp1117=) c.2070C>T (p.Asp690=) c.3420C>T (p.Asp1140=) c.3048C>T (p.Asp1016=) c.3411C>T (p.Asp1137=) c.2712C>T (p.Asp904=) c.3459C>T (p.Asp1153=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3757953G>C | CA394568872 | CREBBP | c.3465C>G (p.Asp1155Glu) c.3351C>G (p.Asp1117Glu) c.2070C>G (p.Asp690Glu) c.3420C>G (p.Asp1140Glu) c.3048C>G (p.Asp1016Glu) c.3411C>G (p.Asp1137Glu) c.2712C>G (p.Asp904Glu) c.3459C>G (p.Asp1153Glu) | dbSNP gnomAD v4 |
16 | g.3757953G= | CA2202943344 | CREBBP | c.3465C= (p.Asp1155=) c.3351C= (p.Asp1117=) c.2070C= (p.Asp690=) c.3420C= (p.Asp1140=) c.3048C= (p.Asp1016=) c.3411C= (p.Asp1137=) c.2712C= (p.Asp904=) c.3459C= (p.Asp1153=) | |
16 | g.3757953G>T | CA394568873 | CREBBP | c.3465C>A (p.Asp1155Glu) c.3351C>A (p.Asp1117Glu) c.2070C>A (p.Asp690Glu) c.3420C>A (p.Asp1140Glu) c.3048C>A (p.Asp1016Glu) c.3411C>A (p.Asp1137Glu) c.2712C>A (p.Asp904Glu) c.3459C>A (p.Asp1153Glu) | ClinVar |
16 | g.3757954T>A | CA394568874 | CREBBP | c.3464A>T (p.Asp1155Val) c.3350A>T (p.Asp1117Val) c.2069A>T (p.Asp690Val) c.3419A>T (p.Asp1140Val) c.3047A>T (p.Asp1016Val) c.3410A>T (p.Asp1137Val) c.2711A>T (p.Asp904Val) c.3458A>T (p.Asp1153Val) | dbSNP |
16 | g.3757954T>C | CA7869809 | CREBBP | c.3464A>G (p.Asp1155Gly) c.3350A>G (p.Asp1117Gly) c.2069A>G (p.Asp690Gly) c.3419A>G (p.Asp1140Gly) c.3047A>G (p.Asp1016Gly) c.3410A>G (p.Asp1137Gly) c.2711A>G (p.Asp904Gly) c.3458A>G (p.Asp1153Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3757954T>G | CA394568875 | CREBBP | c.3464A>C (p.Asp1155Ala) c.3350A>C (p.Asp1117Ala) c.2069A>C (p.Asp690Ala) c.3419A>C (p.Asp1140Ala) c.3047A>C (p.Asp1016Ala) c.3410A>C (p.Asp1137Ala) c.2711A>C (p.Asp904Ala) c.3458A>C (p.Asp1153Ala) | |
16 | g.3757954T= | CA2202943347 | CREBBP | c.3464A= (p.Asp1155=) c.3350A= (p.Asp1117=) c.2069A= (p.Asp690=) c.3419A= (p.Asp1140=) c.3047A= (p.Asp1016=) c.3410A= (p.Asp1137=) c.2711A= (p.Asp904=) c.3458A= (p.Asp1153=) | |
16 | g.3757955C>A | CA394568876 | CREBBP | c.3463G>T (p.Asp1155Tyr) c.3349G>T (p.Asp1117Tyr) c.2068G>T (p.Asp690Tyr) c.3418G>T (p.Asp1140Tyr) c.3046G>T (p.Asp1016Tyr) c.3409G>T (p.Asp1137Tyr) c.2710G>T (p.Asp904Tyr) c.3457G>T (p.Asp1153Tyr) | |
16 | g.3757955C>G | CA394568877 | CREBBP | c.3463G>C (p.Asp1155His) c.3349G>C (p.Asp1117His) c.2068G>C (p.Asp690His) c.3418G>C (p.Asp1140His) c.3046G>C (p.Asp1016His) c.3409G>C (p.Asp1137His) c.2710G>C (p.Asp904His) c.3457G>C (p.Asp1153His) | |
16 | g.3757955C>T | CA394568878 | CREBBP | c.3463G>A (p.Asp1155Asn) c.3349G>A (p.Asp1117Asn) c.2068G>A (p.Asp690Asn) c.3418G>A (p.Asp1140Asn) c.3046G>A (p.Asp1016Asn) c.3409G>A (p.Asp1137Asn) c.2710G>A (p.Asp904Asn) c.3457G>A (p.Asp1153Asn) | |
16 | g.3757956C>A | CA493394547 | CREBBP | c.3462G>T (p.Val1154=) c.3348G>T (p.Val1116=) c.2067G>T (p.Val689=) c.3417G>T (p.Val1139=) c.3045G>T (p.Val1015=) c.3408G>T (p.Val1136=) c.2709G>T (p.Val903=) c.3456G>T (p.Val1152=) | dbSNP gnomAD v4 |
16 | g.3757956C= | CA2202943350 | CREBBP | c.3462G= (p.Val1154=) c.3348G= (p.Val1116=) c.2067G= (p.Val689=) c.3417G= (p.Val1139=) c.3045G= (p.Val1015=) c.3408G= (p.Val1136=) c.2709G= (p.Val903=) c.3456G= (p.Val1152=) | |
16 | g.3757956C>G | CA493394543 | CREBBP | c.3462G>C (p.Val1154=) c.3348G>C (p.Val1116=) c.2067G>C (p.Val689=) c.3417G>C (p.Val1139=) c.3045G>C (p.Val1015=) c.3408G>C (p.Val1136=) c.2709G>C (p.Val903=) c.3456G>C (p.Val1152=) | |
16 | g.3757956C>T | CA493394545 | CREBBP | c.3462G>A (p.Val1154=) c.3348G>A (p.Val1116=) c.2067G>A (p.Val689=) c.3417G>A (p.Val1139=) c.3045G>A (p.Val1015=) c.3408G>A (p.Val1136=) c.2709G>A (p.Val903=) c.3456G>A (p.Val1152=) | dbSNP gnomAD v4 |
16 | g.3757957A>C | CA394568881 | CREBBP | c.3461T>G (p.Val1154Gly) c.3347T>G (p.Val1116Gly) c.2066T>G (p.Val689Gly) c.3416T>G (p.Val1139Gly) c.3044T>G (p.Val1015Gly) c.3407T>G (p.Val1136Gly) c.2708T>G (p.Val903Gly) c.3455T>G (p.Val1152Gly) | |
16 | g.3757957A>G | CA394568880 | CREBBP | c.3461T>C (p.Val1154Ala) c.3347T>C (p.Val1116Ala) c.2066T>C (p.Val689Ala) c.3416T>C (p.Val1139Ala) c.3044T>C (p.Val1015Ala) c.3407T>C (p.Val1136Ala) c.2708T>C (p.Val903Ala) c.3455T>C (p.Val1152Ala) | COSMIC |
16 | g.3757957A>T | CA394568879 | CREBBP | c.3461T>A (p.Val1154Glu) c.3347T>A (p.Val1116Glu) c.2066T>A (p.Val689Glu) c.3416T>A (p.Val1139Glu) c.3044T>A (p.Val1015Glu) c.3407T>A (p.Val1136Glu) c.2708T>A (p.Val903Glu) c.3455T>A (p.Val1152Glu) | dbSNP |
16 | g.3757957dup | CA277251 | CREBBP | c.3461dup (p.Asp1155GlyfsTer14) c.3347dup (p.Asp1117GlyfsTer14) c.2066dup (p.Asp690GlyfsTer14) c.3416dup (p.Asp1140GlyfsTer14) c.3044dup (p.Asp1016GlyfsTer14) c.3407dup (p.Asp1137GlyfsTer14) c.2708dup (p.Asp904GlyfsTer14) c.3455dup (p.Asp1153GlyfsTer14) | ClinVar dbSNP |
16 | g.3757958C>A | CA394568882 | CREBBP | c.3460G>T (p.Val1154Leu) c.3346G>T (p.Val1116Leu) c.2065G>T (p.Val689Leu) c.3415G>T (p.Val1139Leu) c.3043G>T (p.Val1015Leu) c.3406G>T (p.Val1136Leu) c.2707G>T (p.Val903Leu) c.3454G>T (p.Val1152Leu) | dbSNP |
16 | g.3757958C>G | CA394568883 | CREBBP | c.3460G>C (p.Val1154Leu) c.3346G>C (p.Val1116Leu) c.2065G>C (p.Val689Leu) c.3415G>C (p.Val1139Leu) c.3043G>C (p.Val1015Leu) c.3406G>C (p.Val1136Leu) c.2707G>C (p.Val903Leu) c.3454G>C (p.Val1152Leu) | |
16 | g.3757958C>T | CA394568884 | CREBBP | c.3460G>A (p.Val1154Met) c.3346G>A (p.Val1116Met) c.2065G>A (p.Val689Met) c.3415G>A (p.Val1139Met) c.3043G>A (p.Val1015Met) c.3406G>A (p.Val1136Met) c.2707G>A (p.Val903Met) c.3454G>A (p.Val1152Met) | dbSNP gnomAD v4 |
16 | g.3757959G>A | CA7869810 | CREBBP | c.3459C>T (p.Tyr1153=) c.3345C>T (p.Tyr1115=) c.2064C>T (p.Tyr688=) c.3414C>T (p.Tyr1138=) c.3042C>T (p.Tyr1014=) c.3405C>T (p.Tyr1135=) c.2706C>T (p.Tyr902=) c.3453C>T (p.Tyr1151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3757959G>C | CA394568885 | CREBBP | c.3459C>G (p.Tyr1153Ter) c.3345C>G (p.Tyr1115Ter) c.2064C>G (p.Tyr688Ter) c.3414C>G (p.Tyr1138Ter) c.3042C>G (p.Tyr1014Ter) c.3405C>G (p.Tyr1135Ter) c.2706C>G (p.Tyr902Ter) c.3453C>G (p.Tyr1151Ter) | dbSNP |
16 | g.3757959G= | CA2202943355 | CREBBP | c.3459C= (p.Tyr1153=) c.3345C= (p.Tyr1115=) c.2064C= (p.Tyr688=) c.3414C= (p.Tyr1138=) c.3042C= (p.Tyr1014=) c.3405C= (p.Tyr1135=) c.2706C= (p.Tyr902=) c.3453C= (p.Tyr1151=) | |
16 | g.3757959G>T | CA394568886 | CREBBP | c.3459C>A (p.Tyr1153Ter) c.3345C>A (p.Tyr1115Ter) c.2064C>A (p.Tyr688Ter) c.3414C>A (p.Tyr1138Ter) c.3042C>A (p.Tyr1014Ter) c.3405C>A (p.Tyr1135Ter) c.2706C>A (p.Tyr902Ter) c.3453C>A (p.Tyr1151Ter) | |
16 | g.3757960T>A | CA394568887 | CREBBP | c.3458A>T (p.Tyr1153Phe) c.3344A>T (p.Tyr1115Phe) c.2063A>T (p.Tyr688Phe) c.3413A>T (p.Tyr1138Phe) c.3041A>T (p.Tyr1014Phe) c.3404A>T (p.Tyr1135Phe) c.2705A>T (p.Tyr902Phe) c.3452A>T (p.Tyr1151Phe) | |
16 | g.3757960T>C | CA394568888 | CREBBP | c.3458A>G (p.Tyr1153Cys) c.3344A>G (p.Tyr1115Cys) c.2063A>G (p.Tyr688Cys) c.3413A>G (p.Tyr1138Cys) c.3041A>G (p.Tyr1014Cys) c.3404A>G (p.Tyr1135Cys) c.2705A>G (p.Tyr902Cys) c.3452A>G (p.Tyr1151Cys) | |
16 | g.3757960T>G | CA394568889 | CREBBP | c.3458A>C (p.Tyr1153Ser) c.3344A>C (p.Tyr1115Ser) c.2063A>C (p.Tyr688Ser) c.3413A>C (p.Tyr1138Ser) c.3041A>C (p.Tyr1014Ser) c.3404A>C (p.Tyr1135Ser) c.2705A>C (p.Tyr902Ser) c.3452A>C (p.Tyr1151Ser) | |
16 | g.3757961A>C | CA394568890 | CREBBP | c.3457T>G (p.Tyr1153Asp) c.3343T>G (p.Tyr1115Asp) c.2062T>G (p.Tyr688Asp) c.3412T>G (p.Tyr1138Asp) c.3040T>G (p.Tyr1014Asp) c.3403T>G (p.Tyr1135Asp) c.2704T>G (p.Tyr902Asp) c.3451T>G (p.Tyr1151Asp) | |
16 | g.3757961A>G | CA394568891 | CREBBP | c.3457T>C (p.Tyr1153His) c.3343T>C (p.Tyr1115His) c.2062T>C (p.Tyr688His) c.3412T>C (p.Tyr1138His) c.3040T>C (p.Tyr1014His) c.3403T>C (p.Tyr1135His) c.2704T>C (p.Tyr902His) c.3451T>C (p.Tyr1151His) | |
16 | g.3757961A>T | CA394568892 | CREBBP | c.3457T>A (p.Tyr1153Asn) c.3343T>A (p.Tyr1115Asn) c.2062T>A (p.Tyr688Asn) c.3412T>A (p.Tyr1138Asn) c.3040T>A (p.Tyr1014Asn) c.3403T>A (p.Tyr1135Asn) c.2704T>A (p.Tyr902Asn) c.3451T>A (p.Tyr1151Asn) | |
16 | g.3757962C>A | CA7869811 | CREBBP | c.3456G>T (p.Gln1152His) c.3342G>T (p.Gln1114His) c.2061G>T (p.Gln687His) c.3411G>T (p.Gln1137His) c.3039G>T (p.Gln1013His) c.3402G>T (p.Gln1134His) c.2703G>T (p.Gln901His) c.3450G>T (p.Gln1150His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3757962C= | CA2202943359 | CREBBP | c.3456G= (p.Gln1152=) c.3342G= (p.Gln1114=) c.2061G= (p.Gln687=) c.3411G= (p.Gln1137=) c.3039G= (p.Gln1013=) c.3402G= (p.Gln1134=) c.2703G= (p.Gln901=) c.3450G= (p.Gln1150=) | |
16 | g.3757962C>G | CA394568893 | CREBBP | c.3456G>C (p.Gln1152His) c.3342G>C (p.Gln1114His) c.2061G>C (p.Gln687His) c.3411G>C (p.Gln1137His) c.3039G>C (p.Gln1013His) c.3402G>C (p.Gln1134His) c.2703G>C (p.Gln901His) c.3450G>C (p.Gln1150His) | |
16 | g.3757962C>T | CA493394551 | CREBBP | c.3456G>A (p.Gln1152=) c.3342G>A (p.Gln1114=) c.2061G>A (p.Gln687=) c.3411G>A (p.Gln1137=) c.3039G>A (p.Gln1013=) c.3402G>A (p.Gln1134=) c.2703G>A (p.Gln901=) c.3450G>A (p.Gln1150=) | dbSNP gnomAD v4 |
16 | g.3757963T>A | CA394568894 | CREBBP | c.3455A>T (p.Gln1152Leu) c.3341A>T (p.Gln1114Leu) c.2060A>T (p.Gln687Leu) c.3410A>T (p.Gln1137Leu) c.3038A>T (p.Gln1013Leu) c.3401A>T (p.Gln1134Leu) c.2702A>T (p.Gln901Leu) c.3449A>T (p.Gln1150Leu) | |
16 | g.3757963T>C | CA394568895 | CREBBP | c.3455A>G (p.Gln1152Arg) c.3341A>G (p.Gln1114Arg) c.2060A>G (p.Gln687Arg) c.3410A>G (p.Gln1137Arg) c.3038A>G (p.Gln1013Arg) c.3401A>G (p.Gln1134Arg) c.2702A>G (p.Gln901Arg) c.3449A>G (p.Gln1150Arg) | dbSNP |
16 | g.3757963T>G | CA394568896 | CREBBP | c.3455A>C (p.Gln1152Pro) c.3341A>C (p.Gln1114Pro) c.2060A>C (p.Gln687Pro) c.3410A>C (p.Gln1137Pro) c.3038A>C (p.Gln1013Pro) c.3401A>C (p.Gln1134Pro) c.2702A>C (p.Gln901Pro) c.3449A>C (p.Gln1150Pro) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3757963T= | CA2202943363 | CREBBP | c.3455A= (p.Gln1152=) c.3341A= (p.Gln1114=) c.2060A= (p.Gln687=) c.3410A= (p.Gln1137=) c.3038A= (p.Gln1013=) c.3401A= (p.Gln1134=) c.2702A= (p.Gln901=) c.3449A= (p.Gln1150=) | |
16 | g.3757964G>A | CA394568897 | CREBBP | c.3454C>T (p.Gln1152Ter) c.3340C>T (p.Gln1114Ter) c.2059C>T (p.Gln687Ter) c.3409C>T (p.Gln1137Ter) c.3037C>T (p.Gln1013Ter) c.3400C>T (p.Gln1134Ter) c.2701C>T (p.Gln901Ter) c.3448C>T (p.Gln1150Ter) | dbSNP COSMIC |
16 | g.3757964G>C | CA394568898 | CREBBP | c.3454C>G (p.Gln1152Glu) c.3340C>G (p.Gln1114Glu) c.2059C>G (p.Gln687Glu) c.3409C>G (p.Gln1137Glu) c.3037C>G (p.Gln1013Glu) c.3400C>G (p.Gln1134Glu) c.2701C>G (p.Gln901Glu) c.3448C>G (p.Gln1150Glu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3757964G= | CA2202943367 | CREBBP | c.3454C= (p.Gln1152=) c.3340C= (p.Gln1114=) c.2059C= (p.Gln687=) c.3409C= (p.Gln1137=) c.3037C= (p.Gln1013=) c.3400C= (p.Gln1134=) c.2701C= (p.Gln901=) c.3448C= (p.Gln1150=) | |
16 | g.3757964G>T | CA394568899 | CREBBP | c.3454C>A (p.Gln1152Lys) c.3340C>A (p.Gln1114Lys) c.2059C>A (p.Gln687Lys) c.3409C>A (p.Gln1137Lys) c.3037C>A (p.Gln1013Lys) c.3400C>A (p.Gln1134Lys) c.2701C>A (p.Gln901Lys) c.3448C>A (p.Gln1150Lys) | |
16 | g.3757965C>A | CA7869812 | CREBBP | c.3453G>T (p.Trp1151Cys) c.3339G>T (p.Trp1113Cys) c.2058G>T (p.Trp686Cys) c.3408G>T (p.Trp1136Cys) c.3036G>T (p.Trp1012Cys) c.3399G>T (p.Trp1133Cys) c.2700G>T (p.Trp900Cys) c.3447G>T (p.Trp1149Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3757965C= | CA2202943371 | CREBBP | c.3453G= (p.Trp1151=) c.3339G= (p.Trp1113=) c.2058G= (p.Trp686=) c.3408G= (p.Trp1136=) c.3036G= (p.Trp1012=) c.3399G= (p.Trp1133=) c.2700G= (p.Trp900=) c.3447G= (p.Trp1149=) | |
16 | g.3757965C>G | CA394568900 | CREBBP | c.3453G>C (p.Trp1151Cys) c.3339G>C (p.Trp1113Cys) c.2058G>C (p.Trp686Cys) c.3408G>C (p.Trp1136Cys) c.3036G>C (p.Trp1012Cys) c.3399G>C (p.Trp1133Cys) c.2700G>C (p.Trp900Cys) c.3447G>C (p.Trp1149Cys) | |
16 | g.3757965C>T | CA394568901 | CREBBP | c.3453G>A (p.Trp1151Ter) c.3339G>A (p.Trp1113Ter) c.2058G>A (p.Trp686Ter) c.3408G>A (p.Trp1136Ter) c.3036G>A (p.Trp1012Ter) c.3399G>A (p.Trp1133Ter) c.2700G>A (p.Trp900Ter) c.3447G>A (p.Trp1149Ter) | dbSNP |
16 | g.3757966C>A | CA394568902 | CREBBP | c.3452G>T (p.Trp1151Leu) c.3338G>T (p.Trp1113Leu) c.2057G>T (p.Trp686Leu) c.3407G>T (p.Trp1136Leu) c.3035G>T (p.Trp1012Leu) c.3398G>T (p.Trp1133Leu) c.2699G>T (p.Trp900Leu) c.3446G>T (p.Trp1149Leu) | dbSNP COSMIC |
16 | g.3757966C>G | CA394568903 | CREBBP | c.3452G>C (p.Trp1151Ser) c.3338G>C (p.Trp1113Ser) c.2057G>C (p.Trp686Ser) c.3407G>C (p.Trp1136Ser) c.3035G>C (p.Trp1012Ser) c.3398G>C (p.Trp1133Ser) c.2699G>C (p.Trp900Ser) c.3446G>C (p.Trp1149Ser) | dbSNP |
16 | g.3757966C>T | CA394568904 | CREBBP | c.3452G>A (p.Trp1151Ter) c.3338G>A (p.Trp1113Ter) c.2057G>A (p.Trp686Ter) c.3407G>A (p.Trp1136Ter) c.3035G>A (p.Trp1012Ter) c.3398G>A (p.Trp1133Ter) c.2699G>A (p.Trp900Ter) c.3446G>A (p.Trp1149Ter) | dbSNP |
16 | g.3757967A= | CA2202943374 | CREBBP | c.3451T= (p.Trp1151=) c.3337T= (p.Trp1113=) c.2056T= (p.Trp686=) c.3406T= (p.Trp1136=) c.3034T= (p.Trp1012=) c.3397T= (p.Trp1133=) c.2698T= (p.Trp900=) c.3445T= (p.Trp1149=) | |
16 | g.3757967A>C | CA394568906 | CREBBP | c.3451T>G (p.Trp1151Gly) c.3337T>G (p.Trp1113Gly) c.2056T>G (p.Trp686Gly) c.3406T>G (p.Trp1136Gly) c.3034T>G (p.Trp1012Gly) c.3397T>G (p.Trp1133Gly) c.2698T>G (p.Trp900Gly) c.3445T>G (p.Trp1149Gly) | |
16 | g.3757967A>G | CA394568907 | CREBBP | c.3451T>C (p.Trp1151Arg) c.3337T>C (p.Trp1113Arg) c.2056T>C (p.Trp686Arg) c.3406T>C (p.Trp1136Arg) c.3034T>C (p.Trp1012Arg) c.3397T>C (p.Trp1133Arg) c.2698T>C (p.Trp900Arg) c.3445T>C (p.Trp1149Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3757967A>T | CA394568905 | CREBBP | c.3451T>A (p.Trp1151Arg) c.3337T>A (p.Trp1113Arg) c.2056T>A (p.Trp686Arg) c.3406T>A (p.Trp1136Arg) c.3034T>A (p.Trp1012Arg) c.3397T>A (p.Trp1133Arg) c.2698T>A (p.Trp900Arg) c.3445T>A (p.Trp1149Arg) | dbSNP |
16 | g.3757968G>A | CA7869813 | CREBBP | c.3450C>T (p.Pro1150=) c.3336C>T (p.Pro1112=) c.2055C>T (p.Pro685=) c.3405C>T (p.Pro1135=) c.3033C>T (p.Pro1011=) c.3396C>T (p.Pro1132=) c.2697C>T (p.Pro899=) c.3444C>T (p.Pro1148=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3757968G>C | CA493394553 | CREBBP | c.3450C>G (p.Pro1150=) c.3336C>G (p.Pro1112=) c.2055C>G (p.Pro685=) c.3405C>G (p.Pro1135=) c.3033C>G (p.Pro1011=) c.3396C>G (p.Pro1132=) c.2697C>G (p.Pro899=) c.3444C>G (p.Pro1148=) | dbSNP |
16 | g.3757968G= | CA2202943377 | CREBBP | c.3450C= (p.Pro1150=) c.3336C= (p.Pro1112=) c.2055C= (p.Pro685=) c.3405C= (p.Pro1135=) c.3033C= (p.Pro1011=) c.3396C= (p.Pro1132=) c.2697C= (p.Pro899=) c.3444C= (p.Pro1148=) | |
16 | g.3757968G>T | CA493394554 | CREBBP | c.3450C>A (p.Pro1150=) c.3336C>A (p.Pro1112=) c.2055C>A (p.Pro685=) c.3405C>A (p.Pro1135=) c.3033C>A (p.Pro1011=) c.3396C>A (p.Pro1132=) c.2697C>A (p.Pro899=) c.3444C>A (p.Pro1148=) | |
16 | g.3757969G>A | CA394568908 | CREBBP | c.3449C>T (p.Pro1150Leu) c.3335C>T (p.Pro1112Leu) c.2054C>T (p.Pro685Leu) c.3404C>T (p.Pro1135Leu) c.3032C>T (p.Pro1011Leu) c.3395C>T (p.Pro1132Leu) c.2696C>T (p.Pro899Leu) c.3443C>T (p.Pro1148Leu) | |
16 | g.3757969G>C | CA394568909 | CREBBP | c.3449C>G (p.Pro1150Arg) c.3335C>G (p.Pro1112Arg) c.2054C>G (p.Pro685Arg) c.3404C>G (p.Pro1135Arg) c.3032C>G (p.Pro1011Arg) c.3395C>G (p.Pro1132Arg) c.2696C>G (p.Pro899Arg) c.3443C>G (p.Pro1148Arg) | dbSNP |
16 | g.3757969G>T | CA394568910 | CREBBP | c.3449C>A (p.Pro1150His) c.3335C>A (p.Pro1112His) c.2054C>A (p.Pro685His) c.3404C>A (p.Pro1135His) c.3032C>A (p.Pro1011His) c.3395C>A (p.Pro1132His) c.2696C>A (p.Pro899His) c.3443C>A (p.Pro1148His) | COSMIC |
16 | g.3757969_3757988delinsGGCTCTTGGTATTGCCCTGT | CA2202943380 | CREBBP | c.3430_3449delinsACAGGGCAATACCAAGAGCC (p.Thr1144=) c.3316_3335delinsACAGGGCAATACCAAGAGCC (p.Thr1106=) c.2035_2054delinsACAGGGCAATACCAAGAGCC (p.Thr679=) c.3385_3404delinsACAGGGCAATACCAAGAGCC (p.Thr1129=) c.3013_3032delinsACAGGGCAATACCAAGAGCC (p.Thr1005=) c.3376_3395delinsACAGGGCAATACCAAGAGCC (p.Thr1126=) c.2677_2696delinsACAGGGCAATACCAAGAGCC (p.Thr893=) c.3424_3443delinsACAGGGCAATACCAAGAGCC (p.Thr1142=) | |
16 | g.3757970G>A | CA7869814 | CREBBP | c.3448C>T (p.Pro1150Ser) c.3334C>T (p.Pro1112Ser) c.2053C>T (p.Pro685Ser) c.3403C>T (p.Pro1135Ser) c.3031C>T (p.Pro1011Ser) c.3394C>T (p.Pro1132Ser) c.2695C>T (p.Pro899Ser) c.3442C>T (p.Pro1148Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3757970G>C | CA394568911 | CREBBP | c.3448C>G (p.Pro1150Ala) c.3334C>G (p.Pro1112Ala) c.2053C>G (p.Pro685Ala) c.3403C>G (p.Pro1135Ala) c.3031C>G (p.Pro1011Ala) c.3394C>G (p.Pro1132Ala) c.2695C>G (p.Pro899Ala) c.3442C>G (p.Pro1148Ala) | dbSNP |
16 | g.3757970G= | CA2202943383 | CREBBP | c.3448C= (p.Pro1150=) c.3334C= (p.Pro1112=) c.2053C= (p.Pro685=) c.3403C= (p.Pro1135=) c.3031C= (p.Pro1011=) c.3394C= (p.Pro1132=) c.2695C= (p.Pro899=) c.3442C= (p.Pro1148=) | |
16 | g.3757970G>T | CA394568912 | CREBBP | c.3448C>A (p.Pro1150Thr) c.3334C>A (p.Pro1112Thr) c.2053C>A (p.Pro685Thr) c.3403C>A (p.Pro1135Thr) c.3031C>A (p.Pro1011Thr) c.3394C>A (p.Pro1132Thr) c.2695C>A (p.Pro899Thr) c.3442C>A (p.Pro1148Thr) | gnomAD v4 |
16 | g.3757971_3757989del | CA620714515 | CREBBP | c.3430_3448del (p.Thr1144ProfsTer?) c.3316_3334del (p.Thr1106ProfsTer?) c.2035_2053del (p.Thr679ProfsTer?) c.3385_3403del (p.Thr1129ProfsTer?) c.3013_3031del (p.Thr1005ProfsTer?) c.3376_3394del (p.Thr1126ProfsTer?) c.2677_2695del (p.Thr893ProfsTer?) c.3424_3442del (p.Thr1142ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3757971C>A | CA394568913 | CREBBP | c.3447G>T (p.Glu1149Asp) c.3333G>T (p.Glu1111Asp) c.2052G>T (p.Glu684Asp) c.3402G>T (p.Glu1134Asp) c.3030G>T (p.Glu1010Asp) c.3393G>T (p.Glu1131Asp) c.2694G>T (p.Glu898Asp) c.3441G>T (p.Glu1147Asp) | dbSNP gnomAD v4 |
16 | g.3757971C>G | CA394568914 | CREBBP | c.3447G>C (p.Glu1149Asp) c.3333G>C (p.Glu1111Asp) c.2052G>C (p.Glu684Asp) c.3402G>C (p.Glu1134Asp) c.3030G>C (p.Glu1010Asp) c.3393G>C (p.Glu1131Asp) c.2694G>C (p.Glu898Asp) c.3441G>C (p.Glu1147Asp) | gnomAD v4 |
16 | g.3757971C>T | CA493394556 | CREBBP | c.3447G>A (p.Glu1149=) c.3333G>A (p.Glu1111=) c.2052G>A (p.Glu684=) c.3402G>A (p.Glu1134=) c.3030G>A (p.Glu1010=) c.3393G>A (p.Glu1131=) c.2694G>A (p.Glu898=) c.3441G>A (p.Glu1147=) | |
16 | g.3757972T>A | CA394568915 | CREBBP | c.3446A>T (p.Glu1149Val) c.3332A>T (p.Glu1111Val) c.2051A>T (p.Glu684Val) c.3401A>T (p.Glu1134Val) c.3029A>T (p.Glu1010Val) c.3392A>T (p.Glu1131Val) c.2693A>T (p.Glu898Val) c.3440A>T (p.Glu1147Val) | |
16 | g.3757972T>C | CA394568916 | CREBBP | c.3446A>G (p.Glu1149Gly) c.3332A>G (p.Glu1111Gly) c.2051A>G (p.Glu684Gly) c.3401A>G (p.Glu1134Gly) c.3029A>G (p.Glu1010Gly) c.3392A>G (p.Glu1131Gly) c.2693A>G (p.Glu898Gly) c.3440A>G (p.Glu1147Gly) | |
16 | g.3757972T>G | CA394568917 | CREBBP | c.3446A>C (p.Glu1149Ala) c.3332A>C (p.Glu1111Ala) c.2051A>C (p.Glu684Ala) c.3401A>C (p.Glu1134Ala) c.3029A>C (p.Glu1010Ala) c.3392A>C (p.Glu1131Ala) c.2693A>C (p.Glu898Ala) c.3440A>C (p.Glu1147Ala) | |
16 | g.3757973C>A | CA394568919 | CREBBP | c.3445G>T (p.Glu1149Ter) c.3331G>T (p.Glu1111Ter) c.2050G>T (p.Glu684Ter) c.3400G>T (p.Glu1134Ter) c.3028G>T (p.Glu1010Ter) c.3391G>T (p.Glu1131Ter) c.2692G>T (p.Glu898Ter) c.3439G>T (p.Glu1147Ter) | |
16 | g.3757973C= | CA2202943385 | CREBBP | c.3445G= (p.Glu1149=) c.3331G= (p.Glu1111=) c.2050G= (p.Glu684=) c.3400G= (p.Glu1134=) c.3028G= (p.Glu1010=) c.3391G= (p.Glu1131=) c.2692G= (p.Glu898=) c.3439G= (p.Glu1147=) | |
16 | g.3757973C>G | CA276997934 | CREBBP | c.3445G>C (p.Glu1149Gln) c.3331G>C (p.Glu1111Gln) c.2050G>C (p.Glu684Gln) c.3400G>C (p.Glu1134Gln) c.3028G>C (p.Glu1010Gln) c.3391G>C (p.Glu1131Gln) c.2692G>C (p.Glu898Gln) c.3439G>C (p.Glu1147Gln) | dbSNP |
16 | g.3757973C>T | CA394568918 | CREBBP | c.3445G>A (p.Glu1149Lys) c.3331G>A (p.Glu1111Lys) c.2050G>A (p.Glu684Lys) c.3400G>A (p.Glu1134Lys) c.3028G>A (p.Glu1010Lys) c.3391G>A (p.Glu1131Lys) c.2692G>A (p.Glu898Lys) c.3439G>A (p.Glu1147Lys) | dbSNP |
16 | g.3757974T>A | CA394568920 | CREBBP | c.3444A>T (p.Gln1148His) c.3330A>T (p.Gln1110His) c.2049A>T (p.Gln683His) c.3399A>T (p.Gln1133His) c.3027A>T (p.Gln1009His) c.3390A>T (p.Gln1130His) c.2691A>T (p.Gln897His) c.3438A>T (p.Gln1146His) | |
16 | g.3757974T>C | CA493394558 | CREBBP | c.3444A>G (p.Gln1148=) c.3330A>G (p.Gln1110=) c.2049A>G (p.Gln683=) c.3399A>G (p.Gln1133=) c.3027A>G (p.Gln1009=) c.3390A>G (p.Gln1130=) c.2691A>G (p.Gln897=) c.3438A>G (p.Gln1146=) | |
16 | g.3757974T>G | CA394568921 | CREBBP | c.3444A>C (p.Gln1148His) c.3330A>C (p.Gln1110His) c.2049A>C (p.Gln683His) c.3399A>C (p.Gln1133His) c.3027A>C (p.Gln1009His) c.3390A>C (p.Gln1130His) c.2691A>C (p.Gln897His) c.3438A>C (p.Gln1146His) | |
16 | g.3757975T>A | CA394568922 | CREBBP | c.3443A>T (p.Gln1148Leu) c.3329A>T (p.Gln1110Leu) c.2048A>T (p.Gln683Leu) c.3398A>T (p.Gln1133Leu) c.3026A>T (p.Gln1009Leu) c.3389A>T (p.Gln1130Leu) c.2690A>T (p.Gln897Leu) c.3437A>T (p.Gln1146Leu) | |
16 | g.3757975T>C | CA394568923 | CREBBP | c.3443A>G (p.Gln1148Arg) c.3329A>G (p.Gln1110Arg) c.2048A>G (p.Gln683Arg) c.3398A>G (p.Gln1133Arg) c.3026A>G (p.Gln1009Arg) c.3389A>G (p.Gln1130Arg) c.2690A>G (p.Gln897Arg) c.3437A>G (p.Gln1146Arg) | |
16 | g.3757975T>G | CA394568924 | CREBBP | c.3443A>C (p.Gln1148Pro) c.3329A>C (p.Gln1110Pro) c.2048A>C (p.Gln683Pro) c.3398A>C (p.Gln1133Pro) c.3026A>C (p.Gln1009Pro) c.3389A>C (p.Gln1130Pro) c.2690A>C (p.Gln897Pro) c.3437A>C (p.Gln1146Pro) | |
16 | g.3757976G>A | CA394568925 | CREBBP | c.3442C>T (p.Gln1148Ter) c.3328C>T (p.Gln1110Ter) c.2047C>T (p.Gln683Ter) c.3397C>T (p.Gln1133Ter) c.3025C>T (p.Gln1009Ter) c.3388C>T (p.Gln1130Ter) c.2689C>T (p.Gln897Ter) c.3436C>T (p.Gln1146Ter) | |
16 | g.3757976G>C | CA394568926 | CREBBP | c.3442C>G (p.Gln1148Glu) c.3328C>G (p.Gln1110Glu) c.2047C>G (p.Gln683Glu) c.3397C>G (p.Gln1133Glu) c.3025C>G (p.Gln1009Glu) c.3388C>G (p.Gln1130Glu) c.2689C>G (p.Gln897Glu) c.3436C>G (p.Gln1146Glu) | ClinVar dbSNP gnomAD v4 |
16 | g.3757976G= | CA2202943391 | CREBBP | c.3442C= (p.Gln1148=) c.3328C= (p.Gln1110=) c.2047C= (p.Gln683=) c.3397C= (p.Gln1133=) c.3025C= (p.Gln1009=) c.3388C= (p.Gln1130=) c.2689C= (p.Gln897=) c.3436C= (p.Gln1146=) | |
16 | g.3757976G>T | CA394568927 | CREBBP | c.3442C>A (p.Gln1148Lys) c.3328C>A (p.Gln1110Lys) c.2047C>A (p.Gln683Lys) c.3397C>A (p.Gln1133Lys) c.3025C>A (p.Gln1009Lys) c.3388C>A (p.Gln1130Lys) c.2689C>A (p.Gln897Lys) c.3436C>A (p.Gln1146Lys) | |
16 | g.3757977G>A | CA493394560 | CREBBP | c.3441C>T (p.Tyr1147=) c.3327C>T (p.Tyr1109=) c.2046C>T (p.Tyr682=) c.3396C>T (p.Tyr1132=) c.3024C>T (p.Tyr1008=) c.3387C>T (p.Tyr1129=) c.2688C>T (p.Tyr896=) c.3435C>T (p.Tyr1145=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3757977G>C | CA394568928 | CREBBP | c.3441C>G (p.Tyr1147Ter) c.3327C>G (p.Tyr1109Ter) c.2046C>G (p.Tyr682Ter) c.3396C>G (p.Tyr1132Ter) c.3024C>G (p.Tyr1008Ter) c.3387C>G (p.Tyr1129Ter) c.2688C>G (p.Tyr896Ter) c.3435C>G (p.Tyr1145Ter) | dbSNP |
16 | g.3757977G= | CA2202943396 | CREBBP | c.3441C= (p.Tyr1147=) c.3327C= (p.Tyr1109=) c.2046C= (p.Tyr682=) c.3396C= (p.Tyr1132=) c.3024C= (p.Tyr1008=) c.3387C= (p.Tyr1129=) c.2688C= (p.Tyr896=) c.3435C= (p.Tyr1145=) | |
16 | g.3757977G>T | CA394568929 | CREBBP | c.3441C>A (p.Tyr1147Ter) c.3327C>A (p.Tyr1109Ter) c.2046C>A (p.Tyr682Ter) c.3396C>A (p.Tyr1132Ter) c.3024C>A (p.Tyr1008Ter) c.3387C>A (p.Tyr1129Ter) c.2688C>A (p.Tyr896Ter) c.3435C>A (p.Tyr1145Ter) | dbSNP |
16 | g.3757978T>A | CA394568930 | CREBBP | c.3440A>T (p.Tyr1147Phe) c.3326A>T (p.Tyr1109Phe) c.2045A>T (p.Tyr682Phe) c.3395A>T (p.Tyr1132Phe) c.3023A>T (p.Tyr1008Phe) c.3386A>T (p.Tyr1129Phe) c.2687A>T (p.Tyr896Phe) c.3434A>T (p.Tyr1145Phe) | dbSNP |
16 | g.3757978T>C | CA394568931 | CREBBP | c.3440A>G (p.Tyr1147Cys) c.3326A>G (p.Tyr1109Cys) c.2045A>G (p.Tyr682Cys) c.3395A>G (p.Tyr1132Cys) c.3023A>G (p.Tyr1008Cys) c.3386A>G (p.Tyr1129Cys) c.2687A>G (p.Tyr896Cys) c.3434A>G (p.Tyr1145Cys) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3757978T>G | CA394568932 | CREBBP | c.3440A>C (p.Tyr1147Ser) c.3326A>C (p.Tyr1109Ser) c.2045A>C (p.Tyr682Ser) c.3395A>C (p.Tyr1132Ser) c.3023A>C (p.Tyr1008Ser) c.3386A>C (p.Tyr1129Ser) c.2687A>C (p.Tyr896Ser) c.3434A>C (p.Tyr1145Ser) | |
16 | g.3757978T= | CA2202943400 | CREBBP | c.3440A= (p.Tyr1147=) c.3326A= (p.Tyr1109=) c.2045A= (p.Tyr682=) c.3395A= (p.Tyr1132=) c.3023A= (p.Tyr1008=) c.3386A= (p.Tyr1129=) c.2687A= (p.Tyr896=) c.3434A= (p.Tyr1145=) | |
16 | g.3757979A>C | CA394568934 | CREBBP | c.3439T>G (p.Tyr1147Asp) c.3325T>G (p.Tyr1109Asp) c.2044T>G (p.Tyr682Asp) c.3394T>G (p.Tyr1132Asp) c.3022T>G (p.Tyr1008Asp) c.3385T>G (p.Tyr1129Asp) c.2686T>G (p.Tyr896Asp) c.3433T>G (p.Tyr1145Asp) | |
16 | g.3757979A>G | CA394568935 | CREBBP | c.3439T>C (p.Tyr1147His) c.3325T>C (p.Tyr1109His) c.2044T>C (p.Tyr682His) c.3394T>C (p.Tyr1132His) c.3022T>C (p.Tyr1008His) c.3385T>C (p.Tyr1129His) c.2686T>C (p.Tyr896His) c.3433T>C (p.Tyr1145His) | |
16 | g.3757979A>T | CA394568933 | CREBBP | c.3439T>A (p.Tyr1147Asn) c.3325T>A (p.Tyr1109Asn) c.2044T>A (p.Tyr682Asn) c.3394T>A (p.Tyr1132Asn) c.3022T>A (p.Tyr1008Asn) c.3385T>A (p.Tyr1129Asn) c.2686T>A (p.Tyr896Asn) c.3433T>A (p.Tyr1145Asn) | dbSNP |
16 | g.3757980T>A | CA394568936 | CREBBP | c.3438A>T (p.Gln1146His) c.3324A>T (p.Gln1108His) c.2043A>T (p.Gln681His) c.3393A>T (p.Gln1131His) c.3021A>T (p.Gln1007His) c.3384A>T (p.Gln1128His) c.2685A>T (p.Gln895His) c.3432A>T (p.Gln1144His) | |
16 | g.3757980T>C | CA493394565 | CREBBP | c.3438A>G (p.Gln1146=) c.3324A>G (p.Gln1108=) c.2043A>G (p.Gln681=) c.3393A>G (p.Gln1131=) c.3021A>G (p.Gln1007=) c.3384A>G (p.Gln1128=) c.2685A>G (p.Gln895=) c.3432A>G (p.Gln1144=) | ClinVar gnomAD v4 |
16 | g.3757980T>G | CA394568937 | CREBBP | c.3438A>C (p.Gln1146His) c.3324A>C (p.Gln1108His) c.2043A>C (p.Gln681His) c.3393A>C (p.Gln1131His) c.3021A>C (p.Gln1007His) c.3384A>C (p.Gln1128His) c.2685A>C (p.Gln895His) c.3432A>C (p.Gln1144His) | |
16 | g.3757981T>A | CA394568938 | CREBBP | c.3437A>T (p.Gln1146Leu) c.3323A>T (p.Gln1108Leu) c.2042A>T (p.Gln681Leu) c.3392A>T (p.Gln1131Leu) c.3020A>T (p.Gln1007Leu) c.3383A>T (p.Gln1128Leu) c.2684A>T (p.Gln895Leu) c.3431A>T (p.Gln1144Leu) | |
16 | g.3757981T>C | CA394568939 | CREBBP | c.3437A>G (p.Gln1146Arg) c.3323A>G (p.Gln1108Arg) c.2042A>G (p.Gln681Arg) c.3392A>G (p.Gln1131Arg) c.3020A>G (p.Gln1007Arg) c.3383A>G (p.Gln1128Arg) c.2684A>G (p.Gln895Arg) c.3431A>G (p.Gln1144Arg) | gnomAD v4 |
16 | g.3757981T>G | CA394568940 | CREBBP | c.3437A>C (p.Gln1146Pro) c.3323A>C (p.Gln1108Pro) c.2042A>C (p.Gln681Pro) c.3392A>C (p.Gln1131Pro) c.3020A>C (p.Gln1007Pro) c.3383A>C (p.Gln1128Pro) c.2684A>C (p.Gln895Pro) c.3431A>C (p.Gln1144Pro) | |
16 | g.3757982G>A | CA277030 | CREBBP | c.3436C>T (p.Gln1146Ter) c.3322C>T (p.Gln1108Ter) c.2041C>T (p.Gln681Ter) c.3391C>T (p.Gln1131Ter) c.3019C>T (p.Gln1007Ter) c.3382C>T (p.Gln1128Ter) c.2683C>T (p.Gln895Ter) c.3430C>T (p.Gln1144Ter) | ClinVar dbSNP |
16 | g.3757982G>C | CA394568941 | CREBBP | c.3436C>G (p.Gln1146Glu) c.3322C>G (p.Gln1108Glu) c.2041C>G (p.Gln681Glu) c.3391C>G (p.Gln1131Glu) c.3019C>G (p.Gln1007Glu) c.3382C>G (p.Gln1128Glu) c.2683C>G (p.Gln895Glu) c.3430C>G (p.Gln1144Glu) | |
16 | g.3757982G= | CA2202943405 | CREBBP | c.3436C= (p.Gln1146=) c.3322C= (p.Gln1108=) c.2041C= (p.Gln681=) c.3391C= (p.Gln1131=) c.3019C= (p.Gln1007=) c.3382C= (p.Gln1128=) c.2683C= (p.Gln895=) c.3430C= (p.Gln1144=) | |
16 | g.3757982G>T | CA394568942 | CREBBP | c.3436C>A (p.Gln1146Lys) c.3322C>A (p.Gln1108Lys) c.2041C>A (p.Gln681Lys) c.3391C>A (p.Gln1131Lys) c.3019C>A (p.Gln1007Lys) c.3382C>A (p.Gln1128Lys) c.2683C>A (p.Gln895Lys) c.3430C>A (p.Gln1144Lys) | |
16 | g.3757983C>A | CA493394567 | CREBBP | c.3435G>T (p.Gly1145=) c.3321G>T (p.Gly1107=) c.2040G>T (p.Gly680=) c.3390G>T (p.Gly1130=) c.3018G>T (p.Gly1006=) c.3381G>T (p.Gly1127=) c.2682G>T (p.Gly894=) c.3429G>T (p.Gly1143=) | dbSNP |
16 | g.3757983C= | CA2202943408 | CREBBP | c.3435G= (p.Gly1145=) c.3321G= (p.Gly1107=) c.2040G= (p.Gly680=) c.3390G= (p.Gly1130=) c.3018G= (p.Gly1006=) c.3381G= (p.Gly1127=) c.2682G= (p.Gly894=) c.3429G= (p.Gly1143=) | |
16 | g.3757983C>G | CA493394568 | CREBBP | c.3435G>C (p.Gly1145=) c.3321G>C (p.Gly1107=) c.2040G>C (p.Gly680=) c.3390G>C (p.Gly1130=) c.3018G>C (p.Gly1006=) c.3381G>C (p.Gly1127=) c.2682G>C (p.Gly894=) c.3429G>C (p.Gly1143=) | |
16 | g.3757983C>T | CA7869815 | CREBBP | c.3435G>A (p.Gly1145=) c.3321G>A (p.Gly1107=) c.2040G>A (p.Gly680=) c.3390G>A (p.Gly1130=) c.3018G>A (p.Gly1006=) c.3381G>A (p.Gly1127=) c.2682G>A (p.Gly894=) c.3429G>A (p.Gly1143=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.3757984C>A | CA394568943 | CREBBP | c.3434G>T (p.Gly1145Val) c.3320G>T (p.Gly1107Val) c.2039G>T (p.Gly680Val) c.3389G>T (p.Gly1130Val) c.3017G>T (p.Gly1006Val) c.3380G>T (p.Gly1127Val) c.2681G>T (p.Gly894Val) c.3428G>T (p.Gly1143Val) | |
16 | g.3757984C>G | CA394568944 | CREBBP | c.3434G>C (p.Gly1145Ala) c.3320G>C (p.Gly1107Ala) c.2039G>C (p.Gly680Ala) c.3389G>C (p.Gly1130Ala) c.3017G>C (p.Gly1006Ala) c.3380G>C (p.Gly1127Ala) c.2681G>C (p.Gly894Ala) c.3428G>C (p.Gly1143Ala) | |
16 | g.3757984C>T | CA394568945 | CREBBP | c.3434G>A (p.Gly1145Glu) c.3320G>A (p.Gly1107Glu) c.2039G>A (p.Gly680Glu) c.3389G>A (p.Gly1130Glu) c.3017G>A (p.Gly1006Glu) c.3380G>A (p.Gly1127Glu) c.2681G>A (p.Gly894Glu) c.3428G>A (p.Gly1143Glu) | |
16 | g.3757984_3757986delinsCCT | CA2202943410 | CREBBP | c.3432_3434delinsAGG (p.Thr1144=) c.3318_3320delinsAGG (p.Thr1106=) c.2037_2039delinsAGG (p.Thr679=) c.3387_3389delinsAGG (p.Thr1129=) c.3015_3017delinsAGG (p.Thr1005=) c.3378_3380delinsAGG (p.Thr1126=) c.2679_2681delinsAGG (p.Thr893=) c.3426_3428delinsAGG (p.Thr1142=) | |
16 | g.3757985C>A | CA394568947 | CREBBP | c.3433G>T (p.Gly1145Trp) c.3319G>T (p.Gly1107Trp) c.2038G>T (p.Gly680Trp) c.3388G>T (p.Gly1130Trp) c.3016G>T (p.Gly1006Trp) c.3379G>T (p.Gly1127Trp) c.2680G>T (p.Gly894Trp) c.3427G>T (p.Gly1143Trp) | dbSNP |
16 | g.3757985C>G | CA394568948 | CREBBP | c.3433G>C (p.Gly1145Arg) c.3319G>C (p.Gly1107Arg) c.2038G>C (p.Gly680Arg) c.3388G>C (p.Gly1130Arg) c.3016G>C (p.Gly1006Arg) c.3379G>C (p.Gly1127Arg) c.2680G>C (p.Gly894Arg) c.3427G>C (p.Gly1143Arg) | dbSNP |
16 | g.3757985C>T | CA394568946 | CREBBP | c.3433G>A (p.Gly1145Arg) c.3319G>A (p.Gly1107Arg) c.2038G>A (p.Gly680Arg) c.3388G>A (p.Gly1130Arg) c.3016G>A (p.Gly1006Arg) c.3379G>A (p.Gly1127Arg) c.2680G>A (p.Gly894Arg) c.3427G>A (p.Gly1143Arg) | dbSNP |
16 | g.3757985_3757986del | CA915949081 | CREBBP | c.3432_3433del (p.Gly1145AlafsTer23) c.3318_3319del (p.Gly1107AlafsTer23) c.2037_2038del (p.Gly680AlafsTer23) c.3387_3388del (p.Gly1130AlafsTer23) c.3015_3016del (p.Gly1006AlafsTer23) c.3378_3379del (p.Gly1127AlafsTer23) c.2679_2680del (p.Gly894AlafsTer23) c.3426_3427del (p.Gly1143AlafsTer23) | ClinVar dbSNP gnomAD v4 |
16 | g.3757986T>A | CA493394574 | CREBBP | c.3432A>T (p.Thr1144=) c.3318A>T (p.Thr1106=) c.2037A>T (p.Thr679=) c.3387A>T (p.Thr1129=) c.3015A>T (p.Thr1005=) c.3378A>T (p.Thr1126=) c.2679A>T (p.Thr893=) c.3426A>T (p.Thr1142=) | |
16 | g.3757986T>C | CA493394573 | CREBBP | c.3432A>G (p.Thr1144=) c.3318A>G (p.Thr1106=) c.2037A>G (p.Thr679=) c.3387A>G (p.Thr1129=) c.3015A>G (p.Thr1005=) c.3378A>G (p.Thr1126=) c.2679A>G (p.Thr893=) c.3426A>G (p.Thr1142=) | dbSNP |
16 | g.3757986T>G | CA493394572 | CREBBP | c.3432A>C (p.Thr1144=) c.3318A>C (p.Thr1106=) c.2037A>C (p.Thr679=) c.3387A>C (p.Thr1129=) c.3015A>C (p.Thr1005=) c.3378A>C (p.Thr1126=) c.2679A>C (p.Thr893=) c.3426A>C (p.Thr1142=) | |
16 | g.3757987G>A | CA394568949 | CREBBP | c.3431C>T (p.Thr1144Ile) c.3317C>T (p.Thr1106Ile) c.2036C>T (p.Thr679Ile) c.3386C>T (p.Thr1129Ile) c.3014C>T (p.Thr1005Ile) c.3377C>T (p.Thr1126Ile) c.2678C>T (p.Thr893Ile) c.3425C>T (p.Thr1142Ile) | gnomAD v4 |
16 | g.3757987G>C | CA394568950 | CREBBP | c.3431C>G (p.Thr1144Arg) c.3317C>G (p.Thr1106Arg) c.2036C>G (p.Thr679Arg) c.3386C>G (p.Thr1129Arg) c.3014C>G (p.Thr1005Arg) c.3377C>G (p.Thr1126Arg) c.2678C>G (p.Thr893Arg) c.3425C>G (p.Thr1142Arg) | dbSNP |
16 | g.3757987G>T | CA394568951 | CREBBP | c.3431C>A (p.Thr1144Lys) c.3317C>A (p.Thr1106Lys) c.2036C>A (p.Thr679Lys) c.3386C>A (p.Thr1129Lys) c.3014C>A (p.Thr1005Lys) c.3377C>A (p.Thr1126Lys) c.2678C>A (p.Thr893Lys) c.3425C>A (p.Thr1142Lys) | |
16 | g.3757988T>A | CA394568952 | CREBBP | c.3430A>T (p.Thr1144Ser) c.3316A>T (p.Thr1106Ser) c.2035A>T (p.Thr679Ser) c.3385A>T (p.Thr1129Ser) c.3013A>T (p.Thr1005Ser) c.3376A>T (p.Thr1126Ser) c.2677A>T (p.Thr893Ser) c.3424A>T (p.Thr1142Ser) | dbSNP |
16 | g.3757988T>C | CA394568953 | CREBBP | c.3430A>G (p.Thr1144Ala) c.3316A>G (p.Thr1106Ala) c.2035A>G (p.Thr679Ala) c.3385A>G (p.Thr1129Ala) c.3013A>G (p.Thr1005Ala) c.3376A>G (p.Thr1126Ala) c.2677A>G (p.Thr893Ala) c.3424A>G (p.Thr1142Ala) | |
16 | g.3757988T>G | CA394568954 | CREBBP | c.3430A>C (p.Thr1144Pro) c.3316A>C (p.Thr1106Pro) c.2035A>C (p.Thr679Pro) c.3385A>C (p.Thr1129Pro) c.3013A>C (p.Thr1005Pro) c.3376A>C (p.Thr1126Pro) c.2677A>C (p.Thr893Pro) c.3424A>C (p.Thr1142Pro) | |
16 | g.3757989G>A | CA493394578 | CREBBP | c.3429C>T (p.Asp1143=) c.3315C>T (p.Asp1105=) c.2034C>T (p.Asp678=) c.3384C>T (p.Asp1128=) c.3012C>T (p.Asp1004=) c.3375C>T (p.Asp1125=) c.2676C>T (p.Asp892=) c.3423C>T (p.Asp1141=) | dbSNP |
16 | g.3757989G>C | CA394568956 | CREBBP | c.3429C>G (p.Asp1143Glu) c.3315C>G (p.Asp1105Glu) c.2034C>G (p.Asp678Glu) c.3384C>G (p.Asp1128Glu) c.3012C>G (p.Asp1004Glu) c.3375C>G (p.Asp1125Glu) c.2676C>G (p.Asp892Glu) c.3423C>G (p.Asp1141Glu) | dbSNP |
16 | g.3757989G>T | CA394568955 | CREBBP | c.3429C>A (p.Asp1143Glu) c.3315C>A (p.Asp1105Glu) c.2034C>A (p.Asp678Glu) c.3384C>A (p.Asp1128Glu) c.3012C>A (p.Asp1004Glu) c.3375C>A (p.Asp1125Glu) c.2676C>A (p.Asp892Glu) c.3423C>A (p.Asp1141Glu) | |
16 | g.3757989_3757990delinsGT | CA2202943415 | CREBBP | c.3428_3429delinsAC (p.Asp1143=) c.3314_3315delinsAC (p.Asp1105=) c.2033_2034delinsAC (p.Asp678=) c.3383_3384delinsAC (p.Asp1128=) c.3011_3012delinsAC (p.Asp1004=) c.3374_3375delinsAC (p.Asp1125=) c.2675_2676delinsAC (p.Asp892=) c.3422_3423delinsAC (p.Asp1141=) | |
16 | g.3757990del | CA658798533 | CREBBP | c.3428del (p.Asp1143AlafsTer?) c.3314del (p.Asp1105AlafsTer?) c.2033del (p.Asp678AlafsTer?) c.3383del (p.Asp1128AlafsTer?) c.3011del (p.Asp1004AlafsTer?) c.3374del (p.Asp1125AlafsTer?) c.2675del (p.Asp892AlafsTer?) c.3422del (p.Asp1141AlafsTer?) | ClinVar dbSNP |
16 | g.3757990T>A | CA394568959 | CREBBP | c.3428A>T (p.Asp1143Val) c.3314A>T (p.Asp1105Val) c.2033A>T (p.Asp678Val) c.3383A>T (p.Asp1128Val) c.3011A>T (p.Asp1004Val) c.3374A>T (p.Asp1125Val) c.2675A>T (p.Asp892Val) c.3422A>T (p.Asp1141Val) | dbSNP |
16 | g.3757990T>C | CA394568960 | CREBBP | c.3428A>G (p.Asp1143Gly) c.3314A>G (p.Asp1105Gly) c.2033A>G (p.Asp678Gly) c.3383A>G (p.Asp1128Gly) c.3011A>G (p.Asp1004Gly) c.3374A>G (p.Asp1125Gly) c.2675A>G (p.Asp892Gly) c.3422A>G (p.Asp1141Gly) | dbSNP |
16 | g.3757990T>G | CA394568962 | CREBBP | c.3428A>C (p.Asp1143Ala) c.3314A>C (p.Asp1105Ala) c.2033A>C (p.Asp678Ala) c.3383A>C (p.Asp1128Ala) c.3011A>C (p.Asp1004Ala) c.3374A>C (p.Asp1125Ala) c.2675A>C (p.Asp892Ala) c.3422A>C (p.Asp1141Ala) | dbSNP |
16 | g.3757991C>A | CA394568964 | CREBBP | c.3427G>T (p.Asp1143Tyr) c.3313G>T (p.Asp1105Tyr) c.2032G>T (p.Asp678Tyr) c.3382G>T (p.Asp1128Tyr) c.3010G>T (p.Asp1004Tyr) c.3373G>T (p.Asp1125Tyr) c.2674G>T (p.Asp892Tyr) c.3421G>T (p.Asp1141Tyr) | dbSNP |
16 | g.3757991C>G | CA394568966 | CREBBP | c.3427G>C (p.Asp1143His) c.3313G>C (p.Asp1105His) c.2032G>C (p.Asp678His) c.3382G>C (p.Asp1128His) c.3010G>C (p.Asp1004His) c.3373G>C (p.Asp1125His) c.2674G>C (p.Asp892His) c.3421G>C (p.Asp1141His) | dbSNP COSMIC |
16 | g.3757991C>T | CA394568968 | CREBBP | c.3427G>A (p.Asp1143Asn) c.3313G>A (p.Asp1105Asn) c.2032G>A (p.Asp678Asn) c.3382G>A (p.Asp1128Asn) c.3010G>A (p.Asp1004Asn) c.3373G>A (p.Asp1125Asn) c.2674G>A (p.Asp892Asn) c.3421G>A (p.Asp1141Asn) | ClinVar dbSNP |
16 | g.3757992C>A | CA493394579 | CREBBP | c.3426G>T (p.Leu1142=) c.3312G>T (p.Leu1104=) c.2031G>T (p.Leu677=) c.3381G>T (p.Leu1127=) c.3009G>T (p.Leu1003=) c.3372G>T (p.Leu1124=) c.2673G>T (p.Leu891=) c.3420G>T (p.Leu1140=) | dbSNP |
16 | g.3757992C>G | CA493394581 | CREBBP | c.3426G>C (p.Leu1142=) c.3312G>C (p.Leu1104=) c.2031G>C (p.Leu677=) c.3381G>C (p.Leu1127=) c.3009G>C (p.Leu1003=) c.3372G>C (p.Leu1124=) c.2673G>C (p.Leu891=) c.3420G>C (p.Leu1140=) | |
16 | g.3757992C>T | CA493394580 | CREBBP | c.3426G>A (p.Leu1142=) c.3312G>A (p.Leu1104=) c.2031G>A (p.Leu677=) c.3381G>A (p.Leu1127=) c.3009G>A (p.Leu1003=) c.3372G>A (p.Leu1124=) c.2673G>A (p.Leu891=) c.3420G>A (p.Leu1140=) | dbSNP |
16 | g.3757993A>C | CA394568974 | CREBBP | c.3425T>G (p.Leu1142Arg) c.3311T>G (p.Leu1104Arg) c.2030T>G (p.Leu677Arg) c.3380T>G (p.Leu1127Arg) c.3008T>G (p.Leu1003Arg) c.3371T>G (p.Leu1124Arg) c.2672T>G (p.Leu891Arg) c.3419T>G (p.Leu1140Arg) | |
16 | g.3757993A>G | CA394568972 | CREBBP | c.3425T>C (p.Leu1142Pro) c.3311T>C (p.Leu1104Pro) c.2030T>C (p.Leu677Pro) c.3380T>C (p.Leu1127Pro) c.3008T>C (p.Leu1003Pro) c.3371T>C (p.Leu1124Pro) c.2672T>C (p.Leu891Pro) c.3419T>C (p.Leu1140Pro) | ClinVar dbSNP |
16 | g.3757993A>T | CA394568970 | CREBBP | c.3425T>A (p.Leu1142Gln) c.3311T>A (p.Leu1104Gln) c.2030T>A (p.Leu677Gln) c.3380T>A (p.Leu1127Gln) c.3008T>A (p.Leu1003Gln) c.3371T>A (p.Leu1124Gln) c.2672T>A (p.Leu891Gln) c.3419T>A (p.Leu1140Gln) | dbSNP |
16 | g.3757994G>A | CA493394585 | CREBBP | c.3424C>T (p.Leu1142=) c.3310C>T (p.Leu1104=) c.2029C>T (p.Leu677=) c.3379C>T (p.Leu1127=) c.3007C>T (p.Leu1003=) c.3370C>T (p.Leu1124=) c.2671C>T (p.Leu891=) c.3418C>T (p.Leu1140=) | dbSNP |
16 | g.3757994G>C | CA394568976 | CREBBP | c.3424C>G (p.Leu1142Val) c.3310C>G (p.Leu1104Val) c.2029C>G (p.Leu677Val) c.3379C>G (p.Leu1127Val) c.3007C>G (p.Leu1003Val) c.3370C>G (p.Leu1124Val) c.2671C>G (p.Leu891Val) c.3418C>G (p.Leu1140Val) | dbSNP |
16 | g.3757994G>T | CA394568978 | CREBBP | c.3424C>A (p.Leu1142Met) c.3310C>A (p.Leu1104Met) c.2029C>A (p.Leu677Met) c.3379C>A (p.Leu1127Met) c.3007C>A (p.Leu1003Met) c.3370C>A (p.Leu1124Met) c.2671C>A (p.Leu891Met) c.3418C>A (p.Leu1140Met) | |
16 | g.3757995C>A | CA394568979 | CREBBP | c.3423G>T (p.Lys1141Asn) c.3309G>T (p.Lys1103Asn) c.2028G>T (p.Lys676Asn) c.3378G>T (p.Lys1126Asn) c.3006G>T (p.Lys1002Asn) c.3369G>T (p.Lys1123Asn) c.2670G>T (p.Lys890Asn) c.3417G>T (p.Lys1139Asn) | dbSNP |
16 | g.3757995C= | CA2202943419 | CREBBP | c.3423G= (p.Lys1141=) c.3309G= (p.Lys1103=) c.2028G= (p.Lys676=) c.3378G= (p.Lys1126=) c.3006G= (p.Lys1002=) c.3369G= (p.Lys1123=) c.2670G= (p.Lys890=) c.3417G= (p.Lys1139=) | |
16 | g.3757995C>G | CA394568980 | CREBBP | c.3423G>C (p.Lys1141Asn) c.3309G>C (p.Lys1103Asn) c.2028G>C (p.Lys676Asn) c.3378G>C (p.Lys1126Asn) c.3006G>C (p.Lys1002Asn) c.3369G>C (p.Lys1123Asn) c.2670G>C (p.Lys890Asn) c.3417G>C (p.Lys1139Asn) | |
16 | g.3757995C>T | CA7869816 | CREBBP | c.3423G>A (p.Lys1141=) c.3309G>A (p.Lys1103=) c.2028G>A (p.Lys676=) c.3378G>A (p.Lys1126=) c.3006G>A (p.Lys1002=) c.3369G>A (p.Lys1123=) c.2670G>A (p.Lys890=) c.3417G>A (p.Lys1139=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3757996T>A | CA394568983 | CREBBP | c.3422A>T (p.Lys1141Met) c.3308A>T (p.Lys1103Met) c.2027A>T (p.Lys676Met) c.3377A>T (p.Lys1126Met) c.3005A>T (p.Lys1002Met) c.3368A>T (p.Lys1123Met) c.2669A>T (p.Lys890Met) c.3416A>T (p.Lys1139Met) | |
16 | g.3757996T>C | CA394568984 | CREBBP | c.3422A>G (p.Lys1141Arg) c.3308A>G (p.Lys1103Arg) c.2027A>G (p.Lys676Arg) c.3377A>G (p.Lys1126Arg) c.3005A>G (p.Lys1002Arg) c.3368A>G (p.Lys1123Arg) c.2669A>G (p.Lys890Arg) c.3416A>G (p.Lys1139Arg) | |
16 | g.3757996T>G | CA394568986 | CREBBP | c.3422A>C (p.Lys1141Thr) c.3308A>C (p.Lys1103Thr) c.2027A>C (p.Lys676Thr) c.3377A>C (p.Lys1126Thr) c.3005A>C (p.Lys1002Thr) c.3368A>C (p.Lys1123Thr) c.2669A>C (p.Lys890Thr) c.3416A>C (p.Lys1139Thr) | |
16 | g.3757997T>A | CA394568988 | CREBBP | c.3421A>T (p.Lys1141Ter) c.3307A>T (p.Lys1103Ter) c.2026A>T (p.Lys676Ter) c.3376A>T (p.Lys1126Ter) c.3004A>T (p.Lys1002Ter) c.3367A>T (p.Lys1123Ter) c.2668A>T (p.Lys890Ter) c.3415A>T (p.Lys1139Ter) | |
16 | g.3757997T>C | CA394568990 | CREBBP | c.3421A>G (p.Lys1141Glu) c.3307A>G (p.Lys1103Glu) c.2026A>G (p.Lys676Glu) c.3376A>G (p.Lys1126Glu) c.3004A>G (p.Lys1002Glu) c.3367A>G (p.Lys1123Glu) c.2668A>G (p.Lys890Glu) c.3415A>G (p.Lys1139Glu) | dbSNP |
16 | g.3757997T>G | CA394568991 | CREBBP | c.3421A>C (p.Lys1141Gln) c.3307A>C (p.Lys1103Gln) c.2026A>C (p.Lys676Gln) c.3376A>C (p.Lys1126Gln) c.3004A>C (p.Lys1002Gln) c.3367A>C (p.Lys1123Gln) c.2668A>C (p.Lys890Gln) c.3415A>C (p.Lys1139Gln) | |
16 | g.3757998C>A | CA493394586 | CREBBP | c.3420G>T (p.Arg1140=) c.3306G>T (p.Arg1102=) c.2025G>T (p.Arg675=) c.3375G>T (p.Arg1125=) c.3003G>T (p.Arg1001=) c.3366G>T (p.Arg1122=) c.2667G>T (p.Arg889=) c.3414G>T (p.Arg1138=) | |
16 | g.3757998C>G | CA493394587 | CREBBP | c.3420G>C (p.Arg1140=) c.3306G>C (p.Arg1102=) c.2025G>C (p.Arg675=) c.3375G>C (p.Arg1125=) c.3003G>C (p.Arg1001=) c.3366G>C (p.Arg1122=) c.2667G>C (p.Arg889=) c.3414G>C (p.Arg1138=) | |
16 | g.3757998C>T | CA493394588 | CREBBP | c.3420G>A (p.Arg1140=) c.3306G>A (p.Arg1102=) c.2025G>A (p.Arg675=) c.3375G>A (p.Arg1125=) c.3003G>A (p.Arg1001=) c.3366G>A (p.Arg1122=) c.2667G>A (p.Arg889=) c.3414G>A (p.Arg1138=) | dbSNP |
16 | g.3757999C>A | CA394568993 | CREBBP | c.3419G>T (p.Arg1140Leu) c.3305G>T (p.Arg1102Leu) c.2024G>T (p.Arg675Leu) c.3374G>T (p.Arg1125Leu) c.3002G>T (p.Arg1001Leu) c.3365G>T (p.Arg1122Leu) c.2666G>T (p.Arg889Leu) c.3413G>T (p.Arg1138Leu) | |
16 | g.3757999C>G | CA394568995 | CREBBP | c.3419G>C (p.Arg1140Pro) c.3305G>C (p.Arg1102Pro) c.2024G>C (p.Arg675Pro) c.3374G>C (p.Arg1125Pro) c.3002G>C (p.Arg1001Pro) c.3365G>C (p.Arg1122Pro) c.2666G>C (p.Arg889Pro) c.3413G>C (p.Arg1138Pro) | dbSNP |
16 | g.3757999C>T | CA394568997 | CREBBP | c.3419G>A (p.Arg1140Gln) c.3305G>A (p.Arg1102Gln) c.2024G>A (p.Arg675Gln) c.3374G>A (p.Arg1125Gln) c.3002G>A (p.Arg1001Gln) c.3365G>A (p.Arg1122Gln) c.2666G>A (p.Arg889Gln) c.3413G>A (p.Arg1138Gln) | dbSNP gnomAD v4 COSMIC |