Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3757842_3757923delinsGACAGGGTCAATTTCCTGCTCAAAGACCTCTGCAAGCTTACTGCAAAACTTATAGACTCGGGATGTCTTGCGATTATAGAGCCA2202943193CREBBPc.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=)
16g.3757843_3757923delCA915949079CREBBPc.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
16g.3757898_3757921delCA2580091114CREBBPc.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
16g.3757904A>CCA394568756CREBBPc.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)
16g.3757904A>GCA394568757CREBBPc.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)
16g.3757904A>TCA394568758CREBBPc.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)
16g.3757905T>ACA493394518CREBBPc.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=)
16g.3757905T>CCA493394519CREBBPc.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=)
16g.3757905T>GCA493394520CREBBPc.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=)
16g.3757906G>ACA394568760CREBBPc.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
16g.3757906G>CCA394568761CREBBPc.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
16g.3757906G>TCA394568759CREBBPc.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)
16g.3757907T>ACA394568762CREBBPc.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)
16g.3757907T>CCA394568763CREBBPc.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)
16g.3757907T>GCA394568764CREBBPc.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)
16g.3757907dupCA2695222672CREBBPc.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)
16g.3757908C>ACA394568765CREBBPc.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)
16g.3757908C=CA2202943266CREBBPc.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=)
16g.3757908C>GCA394568766CREBBPc.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
16g.3757908C>TCA7869801CREBBPc.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
16g.3757909T>ACA394568767CREBBPc.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)
16g.3757909T>CCA394568768CREBBPc.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)
16g.3757909T>GCA394568769CREBBPc.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)
16g.3757910T>ACA394568770CREBBPc.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)
16g.3757910T>CCA394568771CREBBPc.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)
16g.3757910T>GCA394568772CREBBPc.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)
16g.3757911G>ACA493394521CREBBPc.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
16g.3757911G>CCA7869802CREBBPc.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
16g.3757911G=CA2202943270CREBBPc.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=)
16g.3757911G>TCA493394522CREBBPc.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=)
16g.3757912C>ACA394568775CREBBPc.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)
16g.3757912C>GCA394568774CREBBPc.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)
16g.3757912C>TCA394568773CREBBPc.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
16g.3757913G>ACA394568776CREBBPc.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
16g.3757913G>CCA394568777CREBBPc.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)
16g.3757913G>TCA394568778CREBBPc.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
16g.3757914A=CA2202943276CREBBPc.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=)
16g.3757914A>CCA394568779CREBBPc.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)
16g.3757914A>GCA493394523CREBBPc.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
16g.3757914A>TCA394568780CREBBPc.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)
16g.3757915T>ACA394568781CREBBPc.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)
16g.3757915T>CCA394568782CREBBPc.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)
16g.3757915T>GCA394568783CREBBPc.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)
16g.3757916T>ACA394568784CREBBPc.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)
16g.3757916T>CCA394568785CREBBPc.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)
16g.3757916T>GCA394568786CREBBPc.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)
16g.3757918_3757919delCA2695222673CREBBPc.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)
16g.3757917A=CA2202943278CREBBPc.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=)
16g.3757917A>CCA394568787CREBBPc.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)
16g.3757917A>GCA493394524CREBBPc.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
16g.3757917A>TCA394568788CREBBPc.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)
16g.3757918T>ACA394568790CREBBPc.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)
16g.3757918T>CCA271389CREBBPc.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
16g.3757918T>GCA394568789CREBBPc.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)
16g.3757918T=CA2202943284CREBBPc.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=)
16g.3757919A>CCA394568791CREBBPc.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)
16g.3757919A>GCA394568792CREBBPc.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)
16g.3757919A>TCA394568793CREBBPc.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)
16g.3757920G>ACA493394525CREBBPc.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
16g.3757920G>CCA7869803CREBBPc.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
16g.3757920G=CA2202943287CREBBPc.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=)
16g.3757920G>TCA493394526CREBBPc.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=)
16g.3757921A>CCA394568794CREBBPc.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)
16g.3757921A>GCA394568795CREBBPc.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)
16g.3757921A>TCA394568796CREBBPc.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)
16g.3757923_3757926dupCA2580091116CREBBPc.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
16g.3757922G>ACA394568797CREBBPc.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)
16g.3757922G>CCA394568798CREBBPc.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)
16g.3757922G>TCA394568799CREBBPc.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)
16g.3757923C>ACA394568800CREBBPc.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
16g.3757923C>GCA394568801CREBBPc.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)
16g.3757923C>TCA394568802CREBBPc.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
16g.3757924C>ACA394568805CREBBPc.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)
16g.3757924C>GCA394568804CREBBPc.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)
16g.3757924C>TCA394568803CREBBPc.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)
16g.3757925A>CCA394568806CREBBPc.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)
16g.3757925A>GCA394568807CREBBPc.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
16g.3757925A>TCA394568808CREBBPc.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)
16g.3757926G>ACA493394527CREBBPc.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=)
16g.3757926G>CCA493394528CREBBPc.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
16g.3757926G>TCA493394529CREBBPc.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=)
16g.3757927G>ACA394568809CREBBPc.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
16g.3757927G>CCA394568810CREBBPc.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
16g.3757927G>TCA394568811CREBBPc.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)
16g.3757928C>ACA394568812CREBBPc.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)
16g.3757928C=CA2202943292CREBBPc.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=)
16g.3757928C>GCA277012CREBBPc.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
16g.3757928C>TCA394568813CREBBPc.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
16g.3757929A=CA2202943297CREBBPc.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=)
16g.3757929A>CCA394568814CREBBPc.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)
16g.3757929A>GCA493394530CREBBPc.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
16g.3757929A>TCA394568815CREBBPc.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)
16g.3757930T>ACA394568816CREBBPc.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
16g.3757930T>CCA394568817CREBBPc.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)
16g.3757930T>GCA394568818CREBBPc.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)
16g.3757930T=CA2202943300CREBBPc.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=)
16g.3757931T>ACA394568820CREBBPc.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)
16g.3757931T>CCA394568821CREBBPc.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
16g.3757931T>GCA394568819CREBBPc.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)
16g.3757931T=CA2202943303CREBBPc.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=)
16g.3757932G>ACA493394531CREBBPc.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
16g.3757932G>CCA394568822CREBBPc.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)
16g.3757932G>TCA394568823CREBBPc.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)
16g.3757933T>ACA394568824CREBBPc.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)
16g.3757933T>CCA7869804CREBBPc.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
16g.3757933T>GCA394568825CREBBPc.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
16g.3757933T=CA2202943306CREBBPc.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=)
16g.3757934T>ACA394568826CREBBPc.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)
16g.3757934T>CCA394568827CREBBPc.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
16g.3757934T>GCA394568828CREBBPc.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
16g.3757934T=CA2202943310CREBBPc.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=)
16g.3757935G>ACA493394532CREBBPc.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
16g.3757935G>CCA394568829CREBBPc.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)
16g.3757935G>TCA394568830CREBBPc.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)
16g.3757936A>CCA394568831CREBBPc.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)
16g.3757936A>GCA394568832CREBBPc.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)
16g.3757936A>TCA394568833CREBBPc.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)
16g.3757937A>CCA394568836CREBBPc.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)
16g.3757937A>GCA394568834CREBBPc.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)
16g.3757937A>TCA394568835CREBBPc.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)
16g.3757938C>ACA394568837CREBBPc.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)
16g.3757938C>GCA394568838CREBBPc.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)
16g.3757938C>TCA394568839CREBBPc.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
16g.3757939A>CCA394568840CREBBPc.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)
16g.3757939A>GCA394568841CREBBPc.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)
16g.3757939A>TCA394568842CREBBPc.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)
16g.3757940T>ACA394568843CREBBPc.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)
16g.3757940T>CCA394568844CREBBPc.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
16g.3757940T>GCA394568845CREBBPc.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)
16g.3757941G>ACA493394533CREBBPc.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
16g.3757941G>CCA493394534CREBBPc.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=)
16g.3757941G=CA2202943314CREBBPc.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=)
16g.3757941G>TCA493394535CREBBPc.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
16g.3757942A>CCA394568846CREBBPc.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)
16g.3757942A>GCA394568847CREBBPc.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)
16g.3757942A>TCA394568848CREBBPc.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
16g.3757943G>ACA394568851CREBBPc.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)
16g.3757943G>CCA394568850CREBBPc.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
16g.3757943G>TCA394568849CREBBPc.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)
16g.3757943dupCA2695222805CREBBPc.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)
16g.3757944C>ACA394568852CREBBPc.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
16g.3757944C=CA2202943319CREBBPc.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=)
16g.3757944C>GCA394568854CREBBPc.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
16g.3757944C>TCA394568853CREBBPc.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
16g.3757945C>ACA394568855CREBBPc.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)
16g.3757945C>GCA394568857CREBBPc.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
16g.3757945C>TCA394568856CREBBPc.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
16g.3757946A=CA2202943323CREBBPc.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=)
16g.3757946A>CCA394568858CREBBPc.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)
16g.3757946A>GCA394568860CREBBPc.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
16g.3757946A>TCA394568859CREBBPc.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)
16g.3757947G>ACA493394536CREBBPc.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
16g.3757947G>CCA493394537CREBBPc.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
16g.3757947G>TCA493394538CREBBPc.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
16g.3757948A>CCA394568861CREBBPc.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)
16g.3757948A>GCA394568862CREBBPc.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)
16g.3757948A>TCA394568863CREBBPc.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
16g.3757949C>ACA394568864CREBBPc.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
16g.3757949C=CA2202943327CREBBPc.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=)
16g.3757949C>GCA7869805CREBBPc.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
16g.3757949C>TCA7869806CREBBPc.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
16g.3757950G>ACA7869807CREBBPc.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
16g.3757950G>CCA394568865CREBBPc.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
16g.3757950G=CA2202943333CREBBPc.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=)
16g.3757950G>TCA394568866CREBBPc.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)
16g.3757951T>ACA394568867CREBBPc.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)
16g.3757951T>CCA394568868CREBBPc.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)
16g.3757951T>GCA394568869CREBBPc.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)
16g.3757952C>ACA394568870CREBBPc.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
16g.3757952C=CA2202943334CREBBPc.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=)
16g.3757952C>GCA394568871CREBBPc.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
16g.3757952C>TCA7869808CREBBPc.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
16g.3757953G>ACA493394539CREBBPc.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
16g.3757953G>CCA394568872CREBBPc.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
16g.3757953G=CA2202943344CREBBPc.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=)
16g.3757953G>TCA394568873CREBBPc.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
16g.3757954T>ACA394568874CREBBPc.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
16g.3757954T>CCA7869809CREBBPc.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
16g.3757954T>GCA394568875CREBBPc.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)
16g.3757954T=CA2202943347CREBBPc.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=)
16g.3757955C>ACA394568876CREBBPc.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)
16g.3757955C>GCA394568877CREBBPc.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)
16g.3757955C>TCA394568878CREBBPc.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)
16g.3757956C>ACA493394547CREBBPc.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
16g.3757956C=CA2202943350CREBBPc.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=)
16g.3757956C>GCA493394543CREBBPc.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=)
16g.3757956C>TCA493394545CREBBPc.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
16g.3757957A>CCA394568881CREBBPc.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)
16g.3757957A>GCA394568880CREBBPc.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
16g.3757957A>TCA394568879CREBBPc.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
16g.3757957dupCA277251CREBBPc.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
16g.3757958C>ACA394568882CREBBPc.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
16g.3757958C>GCA394568883CREBBPc.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)
16g.3757958C>TCA394568884CREBBPc.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
16g.3757959G>ACA7869810CREBBPc.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
16g.3757959G>CCA394568885CREBBPc.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
16g.3757959G=CA2202943355CREBBPc.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=)
16g.3757959G>TCA394568886CREBBPc.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)
16g.3757960T>ACA394568887CREBBPc.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)
16g.3757960T>CCA394568888CREBBPc.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)
16g.3757960T>GCA394568889CREBBPc.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)
16g.3757961A>CCA394568890CREBBPc.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)
16g.3757961A>GCA394568891CREBBPc.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)
16g.3757961A>TCA394568892CREBBPc.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)
16g.3757962C>ACA7869811CREBBPc.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
16g.3757962C=CA2202943359CREBBPc.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=)
16g.3757962C>GCA394568893CREBBPc.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)
16g.3757962C>TCA493394551CREBBPc.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
16g.3757963T>ACA394568894CREBBPc.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)
16g.3757963T>CCA394568895CREBBPc.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
16g.3757963T>GCA394568896CREBBPc.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
16g.3757963T=CA2202943363CREBBPc.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=)
16g.3757964G>ACA394568897CREBBPc.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
16g.3757964G>CCA394568898CREBBPc.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
16g.3757964G=CA2202943367CREBBPc.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=)
16g.3757964G>TCA394568899CREBBPc.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)
16g.3757965C>ACA7869812CREBBPc.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
16g.3757965C=CA2202943371CREBBPc.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=)
16g.3757965C>GCA394568900CREBBPc.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)
16g.3757965C>TCA394568901CREBBPc.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
16g.3757966C>ACA394568902CREBBPc.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
16g.3757966C>GCA394568903CREBBPc.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
16g.3757966C>TCA394568904CREBBPc.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
16g.3757967A=CA2202943374CREBBPc.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=)
16g.3757967A>CCA394568906CREBBPc.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)
16g.3757967A>GCA394568907CREBBPc.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
16g.3757967A>TCA394568905CREBBPc.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
16g.3757968G>ACA7869813CREBBPc.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
16g.3757968G>CCA493394553CREBBPc.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
16g.3757968G=CA2202943377CREBBPc.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=)
16g.3757968G>TCA493394554CREBBPc.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=)
16g.3757969G>ACA394568908CREBBPc.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)
16g.3757969G>CCA394568909CREBBPc.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
16g.3757969G>TCA394568910CREBBPc.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
16g.3757969_3757988delinsGGCTCTTGGTATTGCCCTGTCA2202943380CREBBPc.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=)
16g.3757970G>ACA7869814CREBBPc.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
16g.3757970G>CCA394568911CREBBPc.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
16g.3757970G=CA2202943383CREBBPc.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=)
16g.3757970G>TCA394568912CREBBPc.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
16g.3757971_3757989delCA620714515CREBBPc.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
16g.3757971C>ACA394568913CREBBPc.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
16g.3757971C>GCA394568914CREBBPc.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
16g.3757971C>TCA493394556CREBBPc.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=)
16g.3757972T>ACA394568915CREBBPc.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)
16g.3757972T>CCA394568916CREBBPc.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)
16g.3757972T>GCA394568917CREBBPc.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)
16g.3757973C>ACA394568919CREBBPc.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)
16g.3757973C=CA2202943385CREBBPc.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=)
16g.3757973C>GCA276997934CREBBPc.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
16g.3757973C>TCA394568918CREBBPc.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
16g.3757974T>ACA394568920CREBBPc.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)
16g.3757974T>CCA493394558CREBBPc.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=)
16g.3757974T>GCA394568921CREBBPc.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)
16g.3757975T>ACA394568922CREBBPc.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)
16g.3757975T>CCA394568923CREBBPc.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)
16g.3757975T>GCA394568924CREBBPc.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)
16g.3757976G>ACA394568925CREBBPc.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)
16g.3757976G>CCA394568926CREBBPc.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
16g.3757976G=CA2202943391CREBBPc.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=)
16g.3757976G>TCA394568927CREBBPc.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)
16g.3757977G>ACA493394560CREBBPc.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
16g.3757977G>CCA394568928CREBBPc.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
16g.3757977G=CA2202943396CREBBPc.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=)
16g.3757977G>TCA394568929CREBBPc.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
16g.3757978T>ACA394568930CREBBPc.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
16g.3757978T>CCA394568931CREBBPc.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
16g.3757978T>GCA394568932CREBBPc.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)
16g.3757978T=CA2202943400CREBBPc.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=)
16g.3757979A>CCA394568934CREBBPc.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)
16g.3757979A>GCA394568935CREBBPc.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)
16g.3757979A>TCA394568933CREBBPc.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
16g.3757980T>ACA394568936CREBBPc.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)
16g.3757980T>CCA493394565CREBBPc.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
16g.3757980T>GCA394568937CREBBPc.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)
16g.3757981T>ACA394568938CREBBPc.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)
16g.3757981T>CCA394568939CREBBPc.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
16g.3757981T>GCA394568940CREBBPc.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)
16g.3757982G>ACA277030CREBBPc.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
16g.3757982G>CCA394568941CREBBPc.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)
16g.3757982G=CA2202943405CREBBPc.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=)
16g.3757982G>TCA394568942CREBBPc.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)
16g.3757983C>ACA493394567CREBBPc.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
16g.3757983C=CA2202943408CREBBPc.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=)
16g.3757983C>GCA493394568CREBBPc.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=)
16g.3757983C>TCA7869815CREBBPc.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
16g.3757984C>ACA394568943CREBBPc.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)
16g.3757984C>GCA394568944CREBBPc.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)
16g.3757984C>TCA394568945CREBBPc.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)
16g.3757984_3757986delinsCCTCA2202943410CREBBPc.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=)
16g.3757985C>ACA394568947CREBBPc.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
16g.3757985C>GCA394568948CREBBPc.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
16g.3757985C>TCA394568946CREBBPc.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
16g.3757985_3757986delCA915949081CREBBPc.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
16g.3757986T>ACA493394574CREBBPc.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=)
16g.3757986T>CCA493394573CREBBPc.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
16g.3757986T>GCA493394572CREBBPc.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=)
16g.3757987G>ACA394568949CREBBPc.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
16g.3757987G>CCA394568950CREBBPc.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
16g.3757987G>TCA394568951CREBBPc.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)
16g.3757988T>ACA394568952CREBBPc.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
16g.3757988T>CCA394568953CREBBPc.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)
16g.3757988T>GCA394568954CREBBPc.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)
16g.3757989G>ACA493394578CREBBPc.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
16g.3757989G>CCA394568956CREBBPc.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
16g.3757989G>TCA394568955CREBBPc.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)
16g.3757989_3757990delinsGTCA2202943415CREBBPc.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=)
16g.3757990delCA658798533CREBBPc.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
16g.3757990T>ACA394568959CREBBPc.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
16g.3757990T>CCA394568960CREBBPc.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
16g.3757990T>GCA394568962CREBBPc.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
16g.3757991C>ACA394568964CREBBPc.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
16g.3757991C>GCA394568966CREBBPc.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
16g.3757991C>TCA394568968CREBBPc.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
16g.3757992C>ACA493394579CREBBPc.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
16g.3757992C>GCA493394581CREBBPc.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=)
16g.3757992C>TCA493394580CREBBPc.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
16g.3757993A>CCA394568974CREBBPc.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)
16g.3757993A>GCA394568972CREBBPc.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
16g.3757993A>TCA394568970CREBBPc.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
16g.3757994G>ACA493394585CREBBPc.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
16g.3757994G>CCA394568976CREBBPc.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
16g.3757994G>TCA394568978CREBBPc.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)
16g.3757995C>ACA394568979CREBBPc.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
16g.3757995C=CA2202943419CREBBPc.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=)
16g.3757995C>GCA394568980CREBBPc.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)
16g.3757995C>TCA7869816CREBBPc.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
16g.3757996T>ACA394568983CREBBPc.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)
16g.3757996T>CCA394568984CREBBPc.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)
16g.3757996T>GCA394568986CREBBPc.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)
16g.3757997T>ACA394568988CREBBPc.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)
16g.3757997T>CCA394568990CREBBPc.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
16g.3757997T>GCA394568991CREBBPc.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)
16g.3757998C>ACA493394586CREBBPc.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=)
16g.3757998C>GCA493394587CREBBPc.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=)
16g.3757998C>TCA493394588CREBBPc.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
16g.3757999C>ACA394568993CREBBPc.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)
16g.3757999C>GCA394568995CREBBPc.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
16g.3757999C>TCA394568997CREBBPc.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
16g.3758000delCA2573054226CREBBPc.3418del (p.Arg1140GlyfsTer?)
c.3304del (p.Arg1102GlyfsTer?)
c.2023del (p.Arg675GlyfsTer?)
c.3373del (p.Arg1125GlyfsTer?)
c.3001del (p.Arg1001GlyfsTer?)
c.3364del (p.Arg1122GlyfsTer?)
c.2665del (p.Arg889GlyfsTer?)
c.3412del (p.Arg1138GlyfsTer?)
 ClinVar dbSNP
16g.3758000G>ACA394568998CREBBPc.3418C>T (p.Arg1140Trp)
c.3304C>T (p.Arg1102Trp)
c.2023C>T (p.Arg675Trp)
c.3373C>T (p.Arg1125Trp)
c.3001C>T (p.Arg1001Trp)
c.3364C>T (p.Arg1122Trp)
c.2665C>T (p.Arg889Trp)
c.3412C>T (p.Arg1138Trp)
 dbSNP gnomAD v4
16g.3758000G>CCA394569000CREBBPc.3418C>G (p.Arg1140Gly)
c.3304C>G (p.Arg1102Gly)
c.2023C>G (p.Arg675Gly)
c.3373C>G (p.Arg1125Gly)
c.3001C>G (p.Arg1001Gly)
c.3364C>G (p.Arg1122Gly)
c.2665C>G (p.Arg889Gly)
c.3412C>G (p.Arg1138Gly)
 dbSNP
16g.3758000G>TCA493394590CREBBPc.3418C>A (p.Arg1140=)
c.3304C>A (p.Arg1102=)
c.2023C>A (p.Arg675=)
c.3373C>A (p.Arg1125=)
c.3001C>A (p.Arg1001=)
c.3364C>A (p.Arg1122=)
c.2665C>A (p.Arg889=)
c.3412C>A (p.Arg1138=)
 dbSNP
16g.3758001C>ACA394569004CREBBPc.3417G>T (p.Lys1139Asn)
c.3303G>T (p.Lys1101Asn)
c.2022G>T (p.Lys674Asn)
c.3372G>T (p.Lys1124Asn)
c.3000G>T (p.Lys1000Asn)
c.3363G>T (p.Lys1121Asn)
c.2664G>T (p.Lys888Asn)
c.3411G>T (p.Lys1137Asn)
16g.3758001C>GCA394569002CREBBPc.3417G>C (p.Lys1139Asn)
c.3303G>C (p.Lys1101Asn)
c.2022G>C (p.Lys674Asn)
c.3372G>C (p.Lys1124Asn)
c.3000G>C (p.Lys1000Asn)
c.3363G>C (p.Lys1121Asn)
c.2664G>C (p.Lys888Asn)
c.3411G>C (p.Lys1137Asn)
 dbSNP
16g.3758001C>TCA493394591CREBBPc.3417G>A (p.Lys1139=)
c.3303G>A (p.Lys1101=)
c.2022G>A (p.Lys674=)
c.3372G>A (p.Lys1124=)
c.3000G>A (p.Lys1000=)
c.3363G>A (p.Lys1121=)
c.2664G>A (p.Lys888=)
c.3411G>A (p.Lys1137=)
 dbSNP
16g.3758002T>ACA394569007CREBBPc.3416A>T (p.Lys1139Met)
c.3302A>T (p.Lys1101Met)
c.2021A>T (p.Lys674Met)
c.3371A>T (p.Lys1124Met)
c.2999A>T (p.Lys1000Met)
c.3362A>T (p.Lys1121Met)
c.2663A>T (p.Lys888Met)
c.3410A>T (p.Lys1137Met)
 dbSNP
16g.3758002T>CCA7869817CREBBPc.3416A>G (p.Lys1139Arg)
c.3302A>G (p.Lys1101Arg)
c.2021A>G (p.Lys674Arg)
c.3371A>G (p.Lys1124Arg)
c.2999A>G (p.Lys1000Arg)
c.3362A>G (p.Lys1121Arg)
c.2663A>G (p.Lys888Arg)
c.3410A>G (p.Lys1137Arg)
 dbSNP ExAC gnomAD v2
16g.3758002T>GCA394569009CREBBPc.3416A>C (p.Lys1139Thr)
c.3302A>C (p.Lys1101Thr)
c.2021A>C (p.Lys674Thr)
c.3371A>C (p.Lys1124Thr)
c.2999A>C (p.Lys1000Thr)
c.3362A>C (p.Lys1121Thr)
c.2663A>C (p.Lys888Thr)
c.3410A>C (p.Lys1137Thr)
16g.3758002T=CA2202943424CREBBPc.3416A= (p.Lys1139=)
c.3302A= (p.Lys1101=)
c.2021A= (p.Lys674=)
c.3371A= (p.Lys1124=)
c.2999A= (p.Lys1000=)
c.3362A= (p.Lys1121=)
c.2663A= (p.Lys888=)
c.3410A= (p.Lys1137=)
16g.3758003T>ACA394569011CREBBPc.3415A>T (p.Lys1139Ter)
c.3301A>T (p.Lys1101Ter)
c.2020A>T (p.Lys674Ter)
c.3370A>T (p.Lys1124Ter)
c.2998A>T (p.Lys1000Ter)
c.3361A>T (p.Lys1121Ter)
c.2662A>T (p.Lys888Ter)
c.3409A>T (p.Lys1137Ter)
 dbSNP
16g.3758003T>CCA394569013CREBBPc.3415A>G (p.Lys1139Glu)
c.3301A>G (p.Lys1101Glu)
c.2020A>G (p.Lys674Glu)
c.3370A>G (p.Lys1124Glu)
c.2998A>G (p.Lys1000Glu)
c.3361A>G (p.Lys1121Glu)
c.2662A>G (p.Lys888Glu)
c.3409A>G (p.Lys1137Glu)
 COSMIC
16g.3758003T>GCA394569015CREBBPc.3415A>C (p.Lys1139Gln)
c.3301A>C (p.Lys1101Gln)
c.2020A>C (p.Lys674Gln)
c.3370A>C (p.Lys1124Gln)
c.2998A>C (p.Lys1000Gln)
c.3361A>C (p.Lys1121Gln)
c.2662A>C (p.Lys888Gln)
c.3409A>C (p.Lys1137Gln)
16g.3758004G>ACA493394595CREBBPc.3414C>T (p.Ile1138=)
c.3300C>T (p.Ile1100=)
c.2019C>T (p.Ile673=)
c.3369C>T (p.Ile1123=)
c.2997C>T (p.Ile999=)
c.3360C>T (p.Ile1120=)
c.2661C>T (p.Ile887=)
c.3408C>T (p.Ile1136=)
 dbSNP
16g.3758004G>CCA394569016CREBBPc.3414C>G (p.Ile1138Met)
c.3300C>G (p.Ile1100Met)
c.2019C>G (p.Ile673Met)
c.3369C>G (p.Ile1123Met)
c.2997C>G (p.Ile999Met)
c.3360C>G (p.Ile1120Met)
c.2661C>G (p.Ile887Met)
c.3408C>G (p.Ile1136Met)
 dbSNP COSMIC
16g.3758004G>TCA493394596CREBBPc.3414C>A (p.Ile1138=)
c.3300C>A (p.Ile1100=)
c.2019C>A (p.Ile673=)
c.3369C>A (p.Ile1123=)
c.2997C>A (p.Ile999=)
c.3360C>A (p.Ile1120=)
c.2661C>A (p.Ile887=)
c.3408C>A (p.Ile1136=)
 dbSNP

Number of alleles fetched