Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3793378G>CCA2731711921CREBBPc.1216+8C>G (n.1216+8C>G)
c.1162+8C>G (n.1162+8C>G)
c.463+8C>G (n.463+8C>G)
 dbSNP
16g.3793378G>TCA2631429391CREBBPc.1216+8C>A (n.1216+8C>A)
c.1162+8C>A (n.1162+8C>A)
c.463+8C>A (n.463+8C>A)
 gnomAD v4
16g.3793379C>TCA2731711924CREBBPc.1216+7G>A (n.1216+7G>A)
c.1162+7G>A (n.1162+7G>A)
c.463+7G>A (n.463+7G>A)
 dbSNP
16g.3793381C>ACA2731711956CREBBPc.1216+5G>T (n.1216+5G>T)
c.1162+5G>T (n.1162+5G>T)
c.463+5G>T (n.463+5G>T)
 dbSNP
16g.3793381C>TCA645596806CREBBPc.1216+5G>A (n.1216+5G>A)
c.1162+5G>A (n.1162+5G>A)
c.463+5G>A (n.463+5G>A)
 COSMIC
16g.3793382T>CCA2580091135CREBBPc.1216+4A>G (n.1216+4A>G)
c.1162+4A>G (n.1162+4A>G)
c.463+4A>G (n.463+4A>G)
 ClinVar
16g.3793383T>CCA620714642CREBBPc.1216+3A>G (n.1216+3A>G)
c.1162+3A>G (n.1162+3A>G)
c.463+3A>G (n.463+3A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3793383T=CA2202954918CREBBPc.1216+3A= (n.1216+3A=)
c.1162+3A= (n.1162+3A=)
c.463+3A= (n.463+3A=)
16g.3793384A=CA2202954924CREBBPc.1216+2T= (n.1216+2T=)
c.1162+2T= (n.1162+2T=)
c.463+2T= (n.463+2T=)
16g.3793384A>CCA394562024CREBBPc.1216+2T>G (n.1216+2T>G)
c.1162+2T>G (n.1162+2T>G)
c.463+2T>G (n.463+2T>G)
16g.3793384A>GCA394562026CREBBPc.1216+2T>C (n.1216+2T>C)
c.1162+2T>C (n.1162+2T>C)
c.463+2T>C (n.463+2T>C)
16g.3793384A>TCA394562029CREBBPc.1216+2T>A (n.1216+2T>A)
c.1162+2T>A (n.1162+2T>A)
c.463+2T>A (n.463+2T>A)
 ClinVar dbSNP
16g.3793385C>ACA394562037CREBBPc.1216+1G>T (n.1216+1G>T)
c.1162+1G>T (n.1162+1G>T)
c.463+1G>T (n.463+1G>T)
16g.3793385C>GCA394562040CREBBPc.1216+1G>C (n.1216+1G>C)
c.1162+1G>C (n.1162+1G>C)
c.463+1G>C (n.463+1G>C)
16g.3793385C>TCA394562044CREBBPc.1216+1G>A (n.1216+1G>A)
c.1162+1G>A (n.1162+1G>A)
c.463+1G>A (n.463+1G>A)
16g.3793386C>ACA394562048CREBBPc.1216G>T (p.Val406Phe)
c.1216G>T (p.Ala406Ser)
c.1162G>T (p.Val388Phe)
c.463G>T (p.Val155Phe)
16g.3793386C>GCA394562053CREBBPc.1216G>C (p.Val406Leu)
c.1216G>C (p.Ala406Pro)
c.1162G>C (p.Val388Leu)
c.463G>C (p.Val155Leu)
 COSMIC
16g.3793386C>TCA394562057CREBBPc.1216G>A (p.Val406Ile)
c.1216G>A (p.Ala406Thr)
c.1162G>A (p.Val388Ile)
c.463G>A (p.Val155Ile)
16g.3793387T>ACA394562063CREBBPc.1215A>T (p.Gln405His)
c.1161A>T (p.Gln387His)
c.462A>T (p.Gln154His)
16g.3793387T>CCA493394805CREBBPc.1215A>G (p.Gln405=)
c.1161A>G (p.Gln387=)
c.462A>G (p.Gln154=)
16g.3793387T>GCA394562066CREBBPc.1215A>C (p.Gln405His)
c.1161A>C (p.Gln387His)
c.462A>C (p.Gln154His)
16g.3793388T>ACA394562070CREBBPc.1214A>T (p.Gln405Leu)
c.1160A>T (p.Gln387Leu)
c.461A>T (p.Gln154Leu)
16g.3793388T>CCA394562073CREBBPc.1214A>G (p.Gln405Arg)
c.1160A>G (p.Gln387Arg)
c.461A>G (p.Gln154Arg)
16g.3793388T>GCA394562074CREBBPc.1214A>C (p.Gln405Pro)
c.1160A>C (p.Gln387Pro)
c.461A>C (p.Gln154Pro)
16g.3793389G>ACA394562080CREBBPc.1213C>T (p.Gln405Ter)
c.1159C>T (p.Gln387Ter)
c.460C>T (p.Gln154Ter)
16g.3793389G>CCA394562085CREBBPc.1213C>G (p.Gln405Glu)
c.1159C>G (p.Gln387Glu)
c.460C>G (p.Gln154Glu)
 ClinVar dbSNP
16g.3793389G=CA2202954928CREBBPc.1213C= (p.Gln405=)
c.1159C= (p.Gln387=)
c.460C= (p.Gln154=)
16g.3793389G>TCA394562088CREBBPc.1213C>A (p.Gln405Lys)
c.1159C>A (p.Gln387Lys)
c.460C>A (p.Gln154Lys)
 gnomAD v4
16g.3793390G>ACA493394812CREBBPc.1212C>T (p.Cys404=)
c.1158C>T (p.Cys386=)
c.459C>T (p.Cys153=)
 dbSNP gnomAD v4
16g.3793390G>CCA394562096CREBBPc.1212C>G (p.Cys404Trp)
c.1158C>G (p.Cys386Trp)
c.459C>G (p.Cys153Trp)
16g.3793390G=CA2202954934CREBBPc.1212C= (p.Cys404=)
c.1158C= (p.Cys386=)
c.459C= (p.Cys153=)
16g.3793390G>TCA394562092CREBBPc.1212C>A (p.Cys404Ter)
c.1158C>A (p.Cys386Ter)
c.459C>A (p.Cys153Ter)
16g.3793391C>ACA394562101CREBBPc.1211G>T (p.Cys404Phe)
c.1157G>T (p.Cys386Phe)
c.458G>T (p.Cys153Phe)
 dbSNP
16g.3793391C=CA2202954938CREBBPc.1211G= (p.Cys404=)
c.1157G= (p.Cys386=)
c.458G= (p.Cys153=)
16g.3793391C>GCA171785CREBBPc.1211G>C (p.Cys404Ser)
c.1157G>C (p.Cys386Ser)
c.458G>C (p.Cys153Ser)
 ClinVar dbSNP
16g.3793391C>TCA394562108CREBBPc.1211G>A (p.Cys404Tyr)
c.1157G>A (p.Cys386Tyr)
c.458G>A (p.Cys153Tyr)
16g.3793392A>CCA394562112CREBBPc.1210T>G (p.Cys404Gly)
c.1156T>G (p.Cys386Gly)
c.457T>G (p.Cys153Gly)
16g.3793392A>GCA394562114CREBBPc.1210T>C (p.Cys404Arg)
c.1156T>C (p.Cys386Arg)
c.457T>C (p.Cys153Arg)
16g.3793392A>TCA394562116CREBBPc.1210T>A (p.Cys404Ser)
c.1156T>A (p.Cys386Ser)
c.457T>A (p.Cys153Ser)
16g.3793393G>ACA493394815CREBBPc.1209C>T (p.Ala403=)
c.1155C>T (p.Ala385=)
c.456C>T (p.Ala152=)
16g.3793393G>CCA493394821CREBBPc.1209C>G (p.Ala403=)
c.1155C>G (p.Ala385=)
c.456C>G (p.Ala152=)
16g.3793393G>TCA493394822CREBBPc.1209C>A (p.Ala403=)
c.1155C>A (p.Ala385=)
c.456C>A (p.Ala152=)
16g.3793394G>ACA394562123CREBBPc.1208C>T (p.Ala403Val)
c.1154C>T (p.Ala385Val)
c.455C>T (p.Ala152Val)
 dbSNP
16g.3793394G>CCA394562130CREBBPc.1208C>G (p.Ala403Gly)
c.1154C>G (p.Ala385Gly)
c.455C>G (p.Ala152Gly)
16g.3793394G>TCA394562127CREBBPc.1208C>A (p.Ala403Asp)
c.1154C>A (p.Ala385Asp)
c.455C>A (p.Ala152Asp)
16g.3793395C>ACA394562137CREBBPc.1207G>T (p.Ala403Ser)
c.1153G>T (p.Ala385Ser)
c.454G>T (p.Ala152Ser)
16g.3793395C=CA2202954941CREBBPc.1207G= (p.Ala403=)
c.1153G= (p.Ala385=)
c.454G= (p.Ala152=)
16g.3793395C>GCA394562142CREBBPc.1207G>C (p.Ala403Pro)
c.1153G>C (p.Ala385Pro)
c.454G>C (p.Ala152Pro)
16g.3793395C>TCA394562145CREBBPc.1207G>A (p.Ala403Thr)
c.1153G>A (p.Ala385Thr)
c.454G>A (p.Ala152Thr)
 dbSNP
16g.3793396T>ACA394562150CREBBPc.1206A>T (p.Lys402Asn)
c.1152A>T (p.Lys384Asn)
c.453A>T (p.Lys151Asn)
16g.3793396T>CCA493394830CREBBPc.1206A>G (p.Lys402=)
c.1152A>G (p.Lys384=)
c.453A>G (p.Lys151=)
16g.3793396T>GCA394562152CREBBPc.1206A>C (p.Lys402Asn)
c.1152A>C (p.Lys384Asn)
c.453A>C (p.Lys151Asn)
16g.3793397T>ACA394562157CREBBPc.1205A>T (p.Lys402Ile)
c.1151A>T (p.Lys384Ile)
c.452A>T (p.Lys151Ile)
16g.3793397T>CCA394562161CREBBPc.1205A>G (p.Lys402Arg)
c.1151A>G (p.Lys384Arg)
c.452A>G (p.Lys151Arg)
16g.3793397T>GCA394562165CREBBPc.1205A>C (p.Lys402Thr)
c.1151A>C (p.Lys384Thr)
c.452A>C (p.Lys151Thr)
16g.3793398T>ACA394562170CREBBPc.1204A>T (p.Lys402Ter)
c.1150A>T (p.Lys384Ter)
c.451A>T (p.Lys151Ter)
16g.3793398T>CCA394562173CREBBPc.1204A>G (p.Lys402Glu)
c.1150A>G (p.Lys384Glu)
c.451A>G (p.Lys151Glu)
16g.3793398T>GCA394562177CREBBPc.1204A>C (p.Lys402Gln)
c.1150A>C (p.Lys384Gln)
c.451A>C (p.Lys151Gln)
16g.3793399C>ACA493394834CREBBPc.1203G>T (p.Gly401=)
c.1149G>T (p.Gly383=)
c.450G>T (p.Gly150=)
16g.3793399C>GCA493394836CREBBPc.1203G>C (p.Gly401=)
c.1149G>C (p.Gly383=)
c.450G>C (p.Gly150=)
16g.3793399C>TCA493394837CREBBPc.1203G>A (p.Gly401=)
c.1149G>A (p.Gly383=)
c.450G>A (p.Gly150=)
16g.3793400C>ACA394562189CREBBPc.1202G>T (p.Gly401Val)
c.1148G>T (p.Gly383Val)
c.449G>T (p.Gly150Val)
16g.3793400C>GCA394562183CREBBPc.1202G>C (p.Gly401Ala)
c.1148G>C (p.Gly383Ala)
c.449G>C (p.Gly150Ala)
16g.3793400C>TCA394562187CREBBPc.1202G>A (p.Gly401Glu)
c.1148G>A (p.Gly383Glu)
c.449G>A (p.Gly150Glu)
 ClinVar dbSNP
16g.3793401C>ACA394562193CREBBPc.1201G>T (p.Gly401Trp)
c.1147G>T (p.Gly383Trp)
c.448G>T (p.Gly150Trp)
 gnomAD v4 COSMIC
16g.3793401C>GCA394562196CREBBPc.1201G>C (p.Gly401Arg)
c.1147G>C (p.Gly383Arg)
c.448G>C (p.Gly150Arg)
16g.3793401C>TCA394562202CREBBPc.1201G>A (p.Gly401Arg)
c.1147G>A (p.Gly383Arg)
c.448G>A (p.Gly150Arg)
16g.3793402A>CCA493394839CREBBPc.1200T>G (p.Ala400=)
c.1146T>G (p.Ala382=)
c.447T>G (p.Ala149=)
16g.3793402A>GCA493394840CREBBPc.1200T>C (p.Ala400=)
c.1146T>C (p.Ala382=)
c.447T>C (p.Ala149=)
16g.3793402A>TCA493394841CREBBPc.1200T>A (p.Ala400=)
c.1146T>A (p.Ala382=)
c.447T>A (p.Ala149=)
16g.3793403G>ACA394562207CREBBPc.1199C>T (p.Ala400Val)
c.1145C>T (p.Ala382Val)
c.446C>T (p.Ala149Val)
16g.3793403G>CCA394562212CREBBPc.1199C>G (p.Ala400Gly)
c.1145C>G (p.Ala382Gly)
c.446C>G (p.Ala149Gly)
 dbSNP gnomAD v4
16g.3793403G>TCA394562221CREBBPc.1199C>A (p.Ala400Asp)
c.1145C>A (p.Ala382Asp)
c.446C>A (p.Ala149Asp)
16g.3793404C>ACA394562230CREBBPc.1198G>T (p.Ala400Ser)
c.1144G>T (p.Ala382Ser)
c.445G>T (p.Ala149Ser)
 gnomAD v4
16g.3793404C>GCA394562226CREBBPc.1198G>C (p.Ala400Pro)
c.1144G>C (p.Ala382Pro)
c.445G>C (p.Ala149Pro)
16g.3793404C>TCA394562228CREBBPc.1198G>A (p.Ala400Thr)
c.1144G>A (p.Ala382Thr)
c.445G>A (p.Ala149Thr)
 dbSNP
16g.3793405C>ACA394562233CREBBPc.1197G>T (p.Gln399His)
c.1143G>T (p.Gln381His)
c.444G>T (p.Gln148His)
16g.3793405C>GCA394562236CREBBPc.1197G>C (p.Gln399His)
c.1143G>C (p.Gln381His)
c.444G>C (p.Gln148His)
16g.3793405C>TCA493394660CREBBPc.1197G>A (p.Gln399=)
c.1143G>A (p.Gln381=)
c.444G>A (p.Gln148=)
 gnomAD v4
16g.3793406T>ACA394562240CREBBPc.1196A>T (p.Gln399Leu)
c.1142A>T (p.Gln381Leu)
c.443A>T (p.Gln148Leu)
16g.3793406T>CCA394562244CREBBPc.1196A>G (p.Gln399Arg)
c.1142A>G (p.Gln381Arg)
c.443A>G (p.Gln148Arg)
 gnomAD v4
16g.3793406T>GCA394562248CREBBPc.1196A>C (p.Gln399Pro)
c.1142A>C (p.Gln381Pro)
c.443A>C (p.Gln148Pro)
16g.3793407G>ACA394562263CREBBPc.1195C>T (p.Gln399Ter)
c.1141C>T (p.Gln381Ter)
c.442C>T (p.Gln148Ter)
16g.3793407G>CCA394562256CREBBPc.1195C>G (p.Gln399Glu)
c.1141C>G (p.Gln381Glu)
c.442C>G (p.Gln148Glu)
16g.3793407G>TCA394562261CREBBPc.1195C>A (p.Gln399Lys)
c.1141C>A (p.Gln381Lys)
c.442C>A (p.Gln148Lys)
 gnomAD v4
16g.3793408A>CCA394562267CREBBPc.1194T>G (p.Cys398Trp)
c.1140T>G (p.Cys380Trp)
c.441T>G (p.Cys147Trp)
16g.3793408A>GCA493394661CREBBPc.1194T>C (p.Cys398=)
c.1140T>C (p.Cys380=)
c.441T>C (p.Cys147=)
16g.3793408A>TCA394562268CREBBPc.1194T>A (p.Cys398Ter)
c.1140T>A (p.Cys380Ter)
c.441T>A (p.Cys147Ter)
16g.3793409C>ACA394562270CREBBPc.1193G>T (p.Cys398Phe)
c.1139G>T (p.Cys380Phe)
c.440G>T (p.Cys147Phe)
16g.3793409C>GCA394562273CREBBPc.1193G>C (p.Cys398Ser)
c.1139G>C (p.Cys380Ser)
c.440G>C (p.Cys147Ser)
16g.3793409C>TCA394562275CREBBPc.1193G>A (p.Cys398Tyr)
c.1139G>A (p.Cys380Tyr)
c.440G>A (p.Cys147Tyr)
16g.3793410A>CCA394562282CREBBPc.1192T>G (p.Cys398Gly)
c.1138T>G (p.Cys380Gly)
c.439T>G (p.Cys147Gly)
16g.3793410A>GCA394562285CREBBPc.1192T>C (p.Cys398Arg)
c.1138T>C (p.Cys380Arg)
c.439T>C (p.Cys147Arg)
16g.3793410A>TCA394562288CREBBPc.1192T>A (p.Cys398Ser)
c.1138T>A (p.Cys380Ser)
c.439T>A (p.Cys147Ser)
16g.3793411A>CCA394562299CREBBPc.1191T>G (p.His397Gln)
c.1137T>G (p.His379Gln)
c.438T>G (p.His146Gln)
16g.3793411A>GCA493394662CREBBPc.1191T>C (p.His397=)
c.1137T>C (p.His379=)
c.438T>C (p.His146=)
16g.3793411A>TCA394562302CREBBPc.1191T>A (p.His397Gln)
c.1137T>A (p.His379Gln)
c.438T>A (p.His146Gln)
16g.3793412T>ACA394562308CREBBPc.1190A>T (p.His397Leu)
c.1136A>T (p.His379Leu)
c.437A>T (p.His146Leu)
16g.3793412T>CCA394562313CREBBPc.1190A>G (p.His397Arg)
c.1136A>G (p.His379Arg)
c.437A>G (p.His146Arg)
16g.3793412T>GCA394562315CREBBPc.1190A>C (p.His397Pro)
c.1136A>C (p.His379Pro)
c.437A>C (p.His146Pro)
16g.3793413G>ACA394562330CREBBPc.1189C>T (p.His397Tyr)
c.1135C>T (p.His379Tyr)
c.436C>T (p.His146Tyr)
16g.3793413G>CCA394562321CREBBPc.1189C>G (p.His397Asp)
c.1135C>G (p.His379Asp)
c.436C>G (p.His146Asp)
16g.3793413G>TCA394562326CREBBPc.1189C>A (p.His397Asn)
c.1135C>A (p.His379Asn)
c.436C>A (p.His146Asn)
16g.3793414C>ACA7870502CREBBPc.1188G>T (p.Thr396=)
c.1134G>T (p.Thr378=)
c.435G>T (p.Thr145=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3793414C=CA2202954944CREBBPc.1188G= (p.Thr396=)
c.1134G= (p.Thr378=)
c.435G= (p.Thr145=)
16g.3793414C>GCA493394663CREBBPc.1188G>C (p.Thr396=)
c.1134G>C (p.Thr378=)
c.435G>C (p.Thr145=)
16g.3793414C>TCA276986521CREBBPc.1188G>A (p.Thr396=)
c.1134G>A (p.Thr378=)
c.435G>A (p.Thr145=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3793415G>ACA394562341CREBBPc.1187C>T (p.Thr396Met)
c.1133C>T (p.Thr378Met)
c.434C>T (p.Thr145Met)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.3793415G>CCA394562344CREBBPc.1187C>G (p.Thr396Arg)
c.1133C>G (p.Thr378Arg)
c.434C>G (p.Thr145Arg)
 COSMIC
16g.3793415G=CA2202954950CREBBPc.1187C= (p.Thr396=)
c.1133C= (p.Thr378=)
c.434C= (p.Thr145=)
16g.3793415G>TCA394562345CREBBPc.1187C>A (p.Thr396Lys)
c.1133C>A (p.Thr378Lys)
c.434C>A (p.Thr145Lys)
16g.3793416T>ACA394562346CREBBPc.1186A>T (p.Thr396Ser)
c.1132A>T (p.Thr378Ser)
c.433A>T (p.Thr145Ser)
16g.3793416T>CCA394562348CREBBPc.1186A>G (p.Thr396Ala)
c.1132A>G (p.Thr378Ala)
c.433A>G (p.Thr145Ala)
16g.3793416T>GCA394562349CREBBPc.1186A>C (p.Thr396Pro)
c.1132A>C (p.Thr378Pro)
c.433A>C (p.Thr145Pro)
16g.3793417C>ACA394562354CREBBPc.1185G>T (p.Met395Ile)
c.1131G>T (p.Met377Ile)
c.432G>T (p.Met144Ile)
16g.3793417C>GCA394562358CREBBPc.1185G>C (p.Met395Ile)
c.1131G>C (p.Met377Ile)
c.432G>C (p.Met144Ile)
16g.3793417C>TCA394562361CREBBPc.1185G>A (p.Met395Ile)
c.1131G>A (p.Met377Ile)
c.432G>A (p.Met144Ile)
16g.3793418A>CCA394562364CREBBPc.1184T>G (p.Met395Arg)
c.1130T>G (p.Met377Arg)
c.431T>G (p.Met144Arg)
16g.3793418A>GCA394562366CREBBPc.1184T>C (p.Met395Thr)
c.1130T>C (p.Met377Thr)
c.431T>C (p.Met144Thr)
16g.3793418A>TCA394562369CREBBPc.1184T>A (p.Met395Lys)
c.1130T>A (p.Met377Lys)
c.431T>A (p.Met144Lys)
 COSMIC
16g.3793418_3793435delCA645596807CREBBPc.1167_1184del (p.Asn390_Met395del)
c.1113_1130del (p.Asn372_Met377del)
c.414_431del (p.Asn139_Met144del)
 COSMIC
16g.3793419T>ACA394562380CREBBPc.1183A>T (p.Met395Leu)
c.1129A>T (p.Met377Leu)
c.430A>T (p.Met144Leu)
16g.3793419T>CCA394562377CREBBPc.1183A>G (p.Met395Val)
c.1129A>G (p.Met377Val)
c.430A>G (p.Met144Val)
 dbSNP gnomAD v4
16g.3793419T>GCA394562374CREBBPc.1183A>C (p.Met395Leu)
c.1129A>C (p.Met377Leu)
c.430A>C (p.Met144Leu)
16g.3793419T=CA2202954954CREBBPc.1183A= (p.Met395=)
c.1129A= (p.Met377=)
c.430A= (p.Met144=)
16g.3793420G>ACA493394664CREBBPc.1182C>T (p.His394=)
c.1128C>T (p.His376=)
c.429C>T (p.His143=)
 dbSNP gnomAD v2 gnomAD v4
16g.3793420G>CCA394562383CREBBPc.1182C>G (p.His394Gln)
c.1128C>G (p.His376Gln)
c.429C>G (p.His143Gln)
16g.3793420G=CA2202954957CREBBPc.1182C= (p.His394=)
c.1128C= (p.His376=)
c.429C= (p.His143=)
16g.3793420G>TCA394562386CREBBPc.1182C>A (p.His394Gln)
c.1128C>A (p.His376Gln)
c.429C>A (p.His143Gln)
16g.3793421T>ACA394562389CREBBPc.1181A>T (p.His394Leu)
c.1127A>T (p.His376Leu)
c.428A>T (p.His143Leu)
16g.3793421T>CCA394562391CREBBPc.1181A>G (p.His394Arg)
c.1127A>G (p.His376Arg)
c.428A>G (p.His143Arg)
16g.3793421T>GCA394562393CREBBPc.1181A>C (p.His394Pro)
c.1127A>C (p.His376Pro)
c.428A>C (p.His143Pro)
16g.3793422G>ACA394562409CREBBPc.1180C>T (p.His394Tyr)
c.1126C>T (p.His376Tyr)
c.427C>T (p.His143Tyr)
16g.3793422G>CCA394562411CREBBPc.1180C>G (p.His394Asp)
c.1126C>G (p.His376Asp)
c.427C>G (p.His143Asp)
16g.3793422G>TCA394562414CREBBPc.1180C>A (p.His394Asn)
c.1126C>A (p.His376Asn)
c.427C>A (p.His143Asn)
16g.3793423A>CCA394562420CREBBPc.1179T>G (p.Asn393Lys)
c.1125T>G (p.Asn375Lys)
c.426T>G (p.Asn142Lys)
16g.3793423A>GCA493394665CREBBPc.1179T>C (p.Asn393=)
c.1125T>C (p.Asn375=)
c.426T>C (p.Asn142=)
16g.3793423A>TCA394562422CREBBPc.1179T>A (p.Asn393Lys)
c.1125T>A (p.Asn375Lys)
c.426T>A (p.Asn142Lys)
16g.3793424T>ACA394562426CREBBPc.1178A>T (p.Asn393Ile)
c.1124A>T (p.Asn375Ile)
c.425A>T (p.Asn142Ile)
16g.3793424T>CCA394562429CREBBPc.1178A>G (p.Asn393Ser)
c.1124A>G (p.Asn375Ser)
c.425A>G (p.Asn142Ser)
16g.3793424T>GCA394562431CREBBPc.1178A>C (p.Asn393Thr)
c.1124A>C (p.Asn375Thr)
c.425A>C (p.Asn142Thr)
16g.3793425T>ACA394562435CREBBPc.1177A>T (p.Asn393Tyr)
c.1123A>T (p.Asn375Tyr)
c.424A>T (p.Asn142Tyr)
16g.3793425T>CCA394562436CREBBPc.1177A>G (p.Asn393Asp)
c.1123A>G (p.Asn375Asp)
c.424A>G (p.Asn142Asp)
16g.3793425T>GCA394562434CREBBPc.1177A>C (p.Asn393His)
c.1123A>C (p.Asn375His)
c.424A>C (p.Asn142His)
16g.3793426C>ACA394562439CREBBPc.1176G>T (p.Leu392Phe)
c.1122G>T (p.Leu374Phe)
c.423G>T (p.Leu141Phe)
16g.3793426C>GCA394562442CREBBPc.1176G>C (p.Leu392Phe)
c.1122G>C (p.Leu374Phe)
c.423G>C (p.Leu141Phe)
16g.3793426C>TCA493394666CREBBPc.1176G>A (p.Leu392=)
c.1122G>A (p.Leu374=)
c.423G>A (p.Leu141=)
16g.3793427A>CCA394562443CREBBPc.1175T>G (p.Leu392Trp)
c.1121T>G (p.Leu374Trp)
c.422T>G (p.Leu141Trp)
16g.3793427A>GCA394562446CREBBPc.1175T>C (p.Leu392Ser)
c.1121T>C (p.Leu374Ser)
c.422T>C (p.Leu141Ser)
16g.3793427A>TCA394562449CREBBPc.1175T>A (p.Leu392Ter)
c.1121T>A (p.Leu374Ter)
c.422T>A (p.Leu141Ter)
16g.3793428A>CCA394562452CREBBPc.1174T>G (p.Leu392Val)
c.1120T>G (p.Leu374Val)
c.421T>G (p.Leu141Val)
16g.3793428A>GCA493394667CREBBPc.1174T>C (p.Leu392=)
c.1120T>C (p.Leu374=)
c.421T>C (p.Leu141=)
16g.3793428A>TCA394562456CREBBPc.1174T>A (p.Leu392Met)
c.1120T>A (p.Leu374Met)
c.421T>A (p.Leu141Met)
16g.3793429A>CCA493394670CREBBPc.1173T>G (p.Val391=)
c.1119T>G (p.Val373=)
c.420T>G (p.Val140=)
16g.3793429A>GCA493394668CREBBPc.1173T>C (p.Val391=)
c.1119T>C (p.Val373=)
c.420T>C (p.Val140=)
16g.3793429A>TCA493394669CREBBPc.1173T>A (p.Val391=)
c.1119T>A (p.Val373=)
c.420T>A (p.Val140=)
16g.3793430A>CCA394562461CREBBPc.1172T>G (p.Val391Gly)
c.1118T>G (p.Val373Gly)
c.419T>G (p.Val140Gly)
16g.3793430A>GCA394562464CREBBPc.1172T>C (p.Val391Ala)
c.1118T>C (p.Val373Ala)
c.419T>C (p.Val140Ala)
 gnomAD v4
16g.3793430A>TCA394562467CREBBPc.1172T>A (p.Val391Asp)
c.1118T>A (p.Val373Asp)
c.419T>A (p.Val140Asp)
16g.3793431C>ACA394562469CREBBPc.1171G>T (p.Val391Phe)
c.1117G>T (p.Val373Phe)
c.418G>T (p.Val140Phe)
16g.3793431C=CA2202954960CREBBPc.1171G= (p.Val391=)
c.1117G= (p.Val373=)
c.418G= (p.Val140=)
16g.3793431C>GCA394562473CREBBPc.1171G>C (p.Val391Leu)
c.1117G>C (p.Val373Leu)
c.418G>C (p.Val140Leu)
16g.3793431C>TCA276986535CREBBPc.1171G>A (p.Val391Ile)
c.1117G>A (p.Val373Ile)
c.418G>A (p.Val140Ile)
 dbSNP gnomAD v4 COSMIC
16g.3793432G>ACA276986550CREBBPc.1170C>T (p.Asn390=)
c.1116C>T (p.Asn372=)
c.417C>T (p.Asn139=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.3793432G>CCA394562479CREBBPc.1170C>G (p.Asn390Lys)
c.1116C>G (p.Asn372Lys)
c.417C>G (p.Asn139Lys)
 dbSNP COSMIC
16g.3793432G=CA2202954965CREBBPc.1170C= (p.Asn390=)
c.1116C= (p.Asn372=)
c.417C= (p.Asn139=)
16g.3793432G>TCA394562482CREBBPc.1170C>A (p.Asn390Lys)
c.1116C>A (p.Asn372Lys)
c.417C>A (p.Asn139Lys)
16g.3793433T>ACA394562492CREBBPc.1169A>T (p.Asn390Ile)
c.1115A>T (p.Asn372Ile)
c.416A>T (p.Asn139Ile)
16g.3793433T>CCA394562487CREBBPc.1169A>G (p.Asn390Ser)
c.1115A>G (p.Asn372Ser)
c.416A>G (p.Asn139Ser)
16g.3793433T>GCA394562489CREBBPc.1169A>C (p.Asn390Thr)
c.1115A>C (p.Asn372Thr)
c.416A>C (p.Asn139Thr)
16g.3793434T>ACA394562494CREBBPc.1168A>T (p.Asn390Tyr)
c.1114A>T (p.Asn372Tyr)
c.415A>T (p.Asn139Tyr)
 dbSNP gnomAD v4
16g.3793434T>CCA394562499CREBBPc.1168A>G (p.Asn390Asp)
c.1114A>G (p.Asn372Asp)
c.415A>G (p.Asn139Asp)
 dbSNP
16g.3793434T>GCA394562502CREBBPc.1168A>C (p.Asn390His)
c.1114A>C (p.Asn372His)
c.415A>C (p.Asn139His)
16g.3793435T>ACA394562505CREBBPc.1167A>T (p.Lys389Asn)
c.1113A>T (p.Lys371Asn)
c.414A>T (p.Lys138Asn)
16g.3793435T>CCA493394671CREBBPc.1167A>G (p.Lys389=)
c.1113A>G (p.Lys371=)
c.414A>G (p.Lys138=)
 gnomAD v4
16g.3793435T>GCA394562508CREBBPc.1167A>C (p.Lys389Asn)
c.1113A>C (p.Lys371Asn)
c.414A>C (p.Lys138Asn)
16g.3793436T>ACA394562512CREBBPc.1166A>T (p.Lys389Ile)
c.1112A>T (p.Lys371Ile)
c.413A>T (p.Lys138Ile)
16g.3793436T>CCA7870503CREBBPc.1166A>G (p.Lys389Arg)
c.1112A>G (p.Lys371Arg)
c.413A>G (p.Lys138Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3793436T>GCA394562520CREBBPc.1166A>C (p.Lys389Thr)
c.1112A>C (p.Lys371Thr)
c.413A>C (p.Lys138Thr)
16g.3793436T=CA2202954969CREBBPc.1166A= (p.Lys389=)
c.1112A= (p.Lys371=)
c.413A= (p.Lys138=)
16g.3793437T>ACA394562524CREBBPc.1165A>T (p.Lys389Ter)
c.1111A>T (p.Lys371Ter)
c.412A>T (p.Lys138Ter)
16g.3793437T>CCA394562538CREBBPc.1165A>G (p.Lys389Glu)
c.1111A>G (p.Lys371Glu)
c.412A>G (p.Lys138Glu)
16g.3793437T>GCA394562542CREBBPc.1165A>C (p.Lys389Gln)
c.1111A>C (p.Lys371Gln)
c.412A>C (p.Lys138Gln)
16g.3793438C>ACA394562555CREBBPc.1164G>T (p.Met388Ile)
c.1110G>T (p.Met370Ile)
c.411G>T (p.Met137Ile)
16g.3793438C>GCA394562551CREBBPc.1164G>C (p.Met388Ile)
c.1110G>C (p.Met370Ile)
c.411G>C (p.Met137Ile)
16g.3793438C>TCA394562547CREBBPc.1164G>A (p.Met388Ile)
c.1110G>A (p.Met370Ile)
c.411G>A (p.Met137Ile)
 dbSNP
16g.3793439A>CCA394562563CREBBPc.1163T>G (p.Met388Arg)
c.1109T>G (p.Met370Arg)
c.410T>G (p.Met137Arg)
16g.3793439A>GCA394562566CREBBPc.1163T>C (p.Met388Thr)
c.1109T>C (p.Met370Thr)
c.410T>C (p.Met137Thr)
16g.3793439A>TCA394562569CREBBPc.1163T>A (p.Met388Lys)
c.1109T>A (p.Met370Lys)
c.410T>A (p.Met137Lys)
16g.3793440T>ACA394562577CREBBPc.1162A>T (p.Met388Leu)
c.1108A>T (p.Met370Leu)
c.409A>T (p.Met137Leu)
16g.3793440T>CCA394562580CREBBPc.1162A>G (p.Met388Val)
c.1108A>G (p.Met370Val)
c.409A>G (p.Met137Val)
 ClinVar
16g.3793440T>GCA394562581CREBBPc.1162A>C (p.Met388Leu)
c.1108A>C (p.Met370Leu)
c.409A>C (p.Met137Leu)
16g.3793441G>ACA493394672CREBBPc.1161C>T (p.Thr387=)
c.1107C>T (p.Thr369=)
c.408C>T (p.Thr136=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3793441G>CCA493394673CREBBPc.1161C>G (p.Thr387=)
c.1107C>G (p.Thr369=)
c.408C>G (p.Thr136=)
16g.3793441G=CA2202954971CREBBPc.1161C= (p.Thr387=)
c.1107C= (p.Thr369=)
c.408C= (p.Thr136=)
16g.3793441G>TCA493394674CREBBPc.1161C>A (p.Thr387=)
c.1107C>A (p.Thr369=)
c.408C>A (p.Thr136=)
16g.3793442G>ACA394562583CREBBPc.1160C>T (p.Thr387Ile)
c.1106C>T (p.Thr369Ile)
c.407C>T (p.Thr136Ile)
16g.3793442G>CCA394562585CREBBPc.1160C>G (p.Thr387Ser)
c.1106C>G (p.Thr369Ser)
c.407C>G (p.Thr136Ser)
 dbSNP
16g.3793442G>TCA394562589CREBBPc.1160C>A (p.Thr387Asn)
c.1106C>A (p.Thr369Asn)
c.407C>A (p.Thr136Asn)
16g.3793443T>ACA394562590CREBBPc.1159A>T (p.Thr387Ser)
c.1105A>T (p.Thr369Ser)
c.406A>T (p.Thr136Ser)
16g.3793443T>CCA394562591CREBBPc.1159A>G (p.Thr387Ala)
c.1105A>G (p.Thr369Ala)
c.406A>G (p.Thr136Ala)
16g.3793443T>GCA394562594CREBBPc.1159A>C (p.Thr387Pro)
c.1105A>C (p.Thr369Pro)
c.406A>C (p.Thr136Pro)
16g.3793444T>ACA493394675CREBBPc.1158A>T (p.Arg386=)
c.1104A>T (p.Arg368=)
c.405A>T (p.Arg135=)
 dbSNP
16g.3793444T>CCA493394676CREBBPc.1158A>G (p.Arg386=)
c.1104A>G (p.Arg368=)
c.405A>G (p.Arg135=)
 gnomAD v4
16g.3793444T>GCA493394677CREBBPc.1158A>C (p.Arg386=)
c.1104A>C (p.Arg368=)
c.405A>C (p.Arg135=)
16g.3793445C>ACA394562601CREBBPc.1157G>T (p.Arg386Leu)
c.1103G>T (p.Arg368Leu)
c.404G>T (p.Arg135Leu)
16g.3793445C=CA2202954974CREBBPc.1157G= (p.Arg386=)
c.1103G= (p.Arg368=)
c.404G= (p.Arg135=)
16g.3793445C>GCA394562599CREBBPc.1157G>C (p.Arg386Pro)
c.1103G>C (p.Arg368Pro)
c.404G>C (p.Arg135Pro)
16g.3793445C>TCA7870504CREBBPc.1157G>A (p.Arg386Gln)
c.1103G>A (p.Arg368Gln)
c.404G>A (p.Arg135Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3793447_3793454dupCA645596808CREBBPc.1150_1157dup (p.Thr387IlefsTer5)
c.1096_1103dup (p.Thr369IlefsTer5)
c.397_404dup (p.Thr136IlefsTer5)
 COSMIC
16g.3793446G>ACA271358CREBBPc.1156C>T (p.Arg386Ter)
c.1102C>T (p.Arg368Ter)
c.403C>T (p.Arg135Ter)
 ClinVar dbSNP
16g.3793446G>CCA394562605CREBBPc.1156C>G (p.Arg386Gly)
c.1102C>G (p.Arg368Gly)
c.403C>G (p.Arg135Gly)
 gnomAD v4
16g.3793446G=CA2202954978CREBBPc.1156C= (p.Arg386=)
c.1102C= (p.Arg368=)
c.403C= (p.Arg135=)
16g.3793446G>TCA493394678CREBBPc.1156C>A (p.Arg386=)
c.1102C>A (p.Arg368=)
c.403C>A (p.Arg135=)
16g.3793447A>CCA394562611CREBBPc.1155T>G (p.Cys385Trp)
c.1101T>G (p.Cys367Trp)
c.402T>G (p.Cys134Trp)
16g.3793447A>GCA493394679CREBBPc.1155T>C (p.Cys385=)
c.1101T>C (p.Cys367=)
c.402T>C (p.Cys134=)
 ClinVar dbSNP gnomAD v4
16g.3793447A>TCA394562613CREBBPc.1155T>A (p.Cys385Ter)
c.1101T>A (p.Cys367Ter)
c.402T>A (p.Cys134Ter)
16g.3793448C>ACA394562619CREBBPc.1154G>T (p.Cys385Phe)
c.1100G>T (p.Cys367Phe)
c.401G>T (p.Cys134Phe)
16g.3793448C>GCA394562621CREBBPc.1154G>C (p.Cys385Ser)
c.1100G>C (p.Cys367Ser)
c.401G>C (p.Cys134Ser)
16g.3793448C>TCA394562625CREBBPc.1154G>A (p.Cys385Tyr)
c.1100G>A (p.Cys367Tyr)
c.401G>A (p.Cys134Tyr)
 dbSNP
16g.3793449A>CCA394562630CREBBPc.1153T>G (p.Cys385Gly)
c.1099T>G (p.Cys367Gly)
c.400T>G (p.Cys134Gly)
16g.3793449A>GCA394562634CREBBPc.1153T>C (p.Cys385Arg)
c.1099T>C (p.Cys367Arg)
c.400T>C (p.Cys134Arg)
16g.3793449A>TCA394562640CREBBPc.1153T>A (p.Cys385Ser)
c.1099T>A (p.Cys367Ser)
c.400T>A (p.Cys134Ser)
16g.3793450A=CA2202954983CREBBPc.1152T= (p.His384=)
c.1098T= (p.His366=)
c.399T= (p.His133=)
16g.3793450A>CCA394562645CREBBPc.1152T>G (p.His384Gln)
c.1098T>G (p.His366Gln)
c.399T>G (p.His133Gln)
16g.3793450A>GCA493394680CREBBPc.1152T>C (p.His384=)
c.1098T>C (p.His366=)
c.399T>C (p.His133=)
 dbSNP
16g.3793450A>TCA394562648CREBBPc.1152T>A (p.His384Gln)
c.1098T>A (p.His366Gln)
c.399T>A (p.His133Gln)
16g.3793451T>ACA394562653CREBBPc.1151A>T (p.His384Leu)
c.1097A>T (p.His366Leu)
c.398A>T (p.His133Leu)
16g.3793451T>CCA394562658CREBBPc.1151A>G (p.His384Arg)
c.1097A>G (p.His366Arg)
c.398A>G (p.His133Arg)
 gnomAD v4
16g.3793451T>GCA394562656CREBBPc.1151A>C (p.His384Pro)
c.1097A>C (p.His366Pro)
c.398A>C (p.His133Pro)
16g.3793452G>ACA394562661CREBBPc.1150C>T (p.His384Tyr)
c.1096C>T (p.His366Tyr)
c.397C>T (p.His133Tyr)
16g.3793452G>CCA394562668CREBBPc.1150C>G (p.His384Asp)
c.1096C>G (p.His366Asp)
c.397C>G (p.His133Asp)
16g.3793452G>TCA394562663CREBBPc.1150C>A (p.His384Asn)
c.1096C>A (p.His366Asn)
c.397C>A (p.His133Asn)
16g.3793453C>ACA493394681CREBBPc.1149G>T (p.Pro383=)
c.1095G>T (p.Pro365=)
c.396G>T (p.Pro132=)
 dbSNP gnomAD v2 gnomAD v4
16g.3793453C=CA2202954985CREBBPc.1149G= (p.Pro383=)
c.1095G= (p.Pro365=)
c.396G= (p.Pro132=)
16g.3793453C>GCA493394682CREBBPc.1149G>C (p.Pro383=)
c.1095G>C (p.Pro365=)
c.396G>C (p.Pro132=)
16g.3793453C>TCA148108CREBBPc.1149G>A (p.Pro383=)
c.1095G>A (p.Pro365=)
c.396G>A (p.Pro132=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3793454G>ACA394562704CREBBPc.1148C>T (p.Pro383Leu)
c.1094C>T (p.Pro365Leu)
c.395C>T (p.Pro132Leu)
 ClinVar dbSNP gnomAD v4 COSMIC
16g.3793454G>CCA394562708CREBBPc.1148C>G (p.Pro383Arg)
c.1094C>G (p.Pro365Arg)
c.395C>G (p.Pro132Arg)
 gnomAD v4 COSMIC
16g.3793454G=CA2202954989CREBBPc.1148C= (p.Pro383=)
c.1094C= (p.Pro365=)
c.395C= (p.Pro132=)
16g.3793454G>TCA394562712CREBBPc.1148C>A (p.Pro383Gln)
c.1094C>A (p.Pro365Gln)
c.395C>A (p.Pro132Gln)
 dbSNP
16g.3793455G>ACA394562716CREBBPc.1147C>T (p.Pro383Ser)
c.1093C>T (p.Pro365Ser)
c.394C>T (p.Pro132Ser)
 dbSNP
16g.3793455G>CCA394562717CREBBPc.1147C>G (p.Pro383Ala)
c.1093C>G (p.Pro365Ala)
c.394C>G (p.Pro132Ala)
16g.3793455G>TCA394562718CREBBPc.1147C>A (p.Pro383Thr)
c.1093C>A (p.Pro365Thr)
c.394C>A (p.Pro132Thr)
16g.3793456G>ACA493394683CREBBPc.1146C>T (p.Leu382=)
c.1092C>T (p.Leu364=)
c.393C>T (p.Leu131=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3793456G>CCA493394684CREBBPc.1146C>G (p.Leu382=)
c.1092C>G (p.Leu364=)
c.393C>G (p.Leu131=)
 dbSNP gnomAD v4
16g.3793456G=CA2202954991CREBBPc.1146C= (p.Leu382=)
c.1092C= (p.Leu364=)
c.393C= (p.Leu131=)
16g.3793456G>TCA493394685CREBBPc.1146C>A (p.Leu382=)
c.1092C>A (p.Leu364=)
c.393C>A (p.Leu131=)
16g.3793457A>CCA394562721CREBBPc.1145T>G (p.Leu382Arg)
c.1091T>G (p.Leu364Arg)
c.392T>G (p.Leu131Arg)
16g.3793457A>GCA394562724CREBBPc.1145T>C (p.Leu382Pro)
c.1091T>C (p.Leu364Pro)
c.392T>C (p.Leu131Pro)
 ClinVar dbSNP
16g.3793457A>TCA394562727CREBBPc.1145T>A (p.Leu382His)
c.1091T>A (p.Leu364His)
c.392T>A (p.Leu131His)
16g.3793458G>ACA394562729CREBBPc.1144C>T (p.Leu382Phe)
c.1090C>T (p.Leu364Phe)
c.391C>T (p.Leu131Phe)
 dbSNP
16g.3793458G>CCA394562732CREBBPc.1144C>G (p.Leu382Val)
c.1090C>G (p.Leu364Val)
c.391C>G (p.Leu131Val)
 ClinVar dbSNP gnomAD v4
16g.3793458G=CA2202954996CREBBPc.1144C= (p.Leu382=)
c.1090C= (p.Leu364=)
c.391C= (p.Leu131=)
16g.3793458G>TCA394562752CREBBPc.1144C>A (p.Leu382Ile)
c.1090C>A (p.Leu364Ile)
c.391C>A (p.Leu131Ile)
16g.3793459C>ACA493394686CREBBPc.1143G>T (p.Ser381=)
c.1089G>T (p.Ser363=)
c.390G>T (p.Ser130=)
 dbSNP
16g.3793459C=CA2202954999CREBBPc.1143G= (p.Ser381=)
c.1089G= (p.Ser363=)
c.390G= (p.Ser130=)
16g.3793459C>GCA493394687CREBBPc.1143G>C (p.Ser381=)
c.1089G>C (p.Ser363=)
c.390G>C (p.Ser130=)
16g.3793459C>TCA7870505CREBBPc.1143G>A (p.Ser381=)
c.1089G>A (p.Ser363=)
c.390G>A (p.Ser130=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3793460G>ACA394562762CREBBPc.1142C>T (p.Ser381Leu)
c.1088C>T (p.Ser363Leu)
c.389C>T (p.Ser130Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.3793460G>CCA394562765CREBBPc.1142C>G (p.Ser381Trp)
c.1088C>G (p.Ser363Trp)
c.389C>G (p.Ser130Trp)
16g.3793460G=CA2202955002CREBBPc.1142C= (p.Ser381=)
c.1088C= (p.Ser363=)
c.389C= (p.Ser130=)
16g.3793460G>TCA394562769CREBBPc.1142C>A (p.Ser381Ter)
c.1088C>A (p.Ser363Ter)
c.389C>A (p.Ser130Ter)
16g.3793461A=CA2202955004CREBBPc.1141T= (p.Ser381=)
c.1087T= (p.Ser363=)
c.388T= (p.Ser130=)
16g.3793461A>CCA394562773CREBBPc.1141T>G (p.Ser381Ala)
c.1087T>G (p.Ser363Ala)
c.388T>G (p.Ser130Ala)
16g.3793461A>GCA394562774CREBBPc.1141T>C (p.Ser381Pro)
c.1087T>C (p.Ser363Pro)
c.388T>C (p.Ser130Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3793461A>TCA394562775CREBBPc.1141T>A (p.Ser381Thr)
c.1087T>A (p.Ser363Thr)
c.388T>A (p.Ser130Thr)
16g.3793462G>ACA493394688CREBBPc.1140C>T (p.Cys380=)
c.1086C>T (p.Cys362=)
c.387C>T (p.Cys129=)
 dbSNP
16g.3793462G>CCA394562777CREBBPc.1140C>G (p.Cys380Trp)
c.1086C>G (p.Cys362Trp)
c.387C>G (p.Cys129Trp)
16g.3793462G>TCA394562780CREBBPc.1140C>A (p.Cys380Ter)
c.1086C>A (p.Cys362Ter)
c.387C>A (p.Cys129Ter)
16g.3793463C>ACA394562784CREBBPc.1139G>T (p.Cys380Phe)
c.1085G>T (p.Cys362Phe)
c.386G>T (p.Cys129Phe)
16g.3793463C>GCA394562788CREBBPc.1139G>C (p.Cys380Ser)
c.1085G>C (p.Cys362Ser)
c.386G>C (p.Cys129Ser)
16g.3793463C>TCA394562791CREBBPc.1139G>A (p.Cys380Tyr)
c.1085G>A (p.Cys362Tyr)
c.386G>A (p.Cys129Tyr)
 dbSNP
16g.3793464A>CCA394562795CREBBPc.1138T>G (p.Cys380Gly)
c.1084T>G (p.Cys362Gly)
c.385T>G (p.Cys129Gly)
16g.3793464A>GCA394562798CREBBPc.1138T>C (p.Cys380Arg)
c.1084T>C (p.Cys362Arg)
c.385T>C (p.Cys129Arg)
16g.3793464A>TCA394562803CREBBPc.1138T>A (p.Cys380Ser)
c.1084T>A (p.Cys362Ser)
c.385T>A (p.Cys129Ser)
16g.3793465G>ACA493394691CREBBPc.1137C>T (p.Ala379=)
c.1083C>T (p.Ala361=)
c.384C>T (p.Ala128=)
16g.3793465G>CCA493394689CREBBPc.1137C>G (p.Ala379=)
c.1083C>G (p.Ala361=)
c.384C>G (p.Ala128=)
16g.3793465G>TCA493394690CREBBPc.1137C>A (p.Ala379=)
c.1083C>A (p.Ala361=)
c.384C>A (p.Ala128=)
16g.3793466G>ACA394562817CREBBPc.1136C>T (p.Ala379Val)
c.1082C>T (p.Ala361Val)
c.383C>T (p.Ala128Val)
16g.3793466G>CCA394562810CREBBPc.1136C>G (p.Ala379Gly)
c.1082C>G (p.Ala361Gly)
c.383C>G (p.Ala128Gly)
16g.3793466G>TCA394562813CREBBPc.1136C>A (p.Ala379Asp)
c.1082C>A (p.Ala361Asp)
c.383C>A (p.Ala128Asp)
16g.3793467C>ACA394562821CREBBPc.1135G>T (p.Ala379Ser)
c.1081G>T (p.Ala361Ser)
c.382G>T (p.Ala128Ser)
 ClinVar dbSNP gnomAD v4
16g.3793467C=CA2202955007CREBBPc.1135G= (p.Ala379=)
c.1081G= (p.Ala361=)
c.382G= (p.Ala128=)
16g.3793467C>GCA394562825CREBBPc.1135G>C (p.Ala379Pro)
c.1081G>C (p.Ala361Pro)
c.382G>C (p.Ala128Pro)
16g.3793467C>TCA394562828CREBBPc.1135G>A (p.Ala379Thr)
c.1081G>A (p.Ala361Thr)
c.382G>A (p.Ala128Thr)
 dbSNP
16g.3793468C>ACA493394692CREBBPc.1134G>T (p.Arg378=)
c.1080G>T (p.Arg360=)
c.381G>T (p.Arg127=)
16g.3793468C>GCA493394693CREBBPc.1134G>C (p.Arg378=)
c.1080G>C (p.Arg360=)
c.381G>C (p.Arg127=)
16g.3793468C>TCA493394694CREBBPc.1134G>A (p.Arg378=)
c.1080G>A (p.Arg360=)
c.381G>A (p.Arg127=)
16g.3793469C>ACA394562832CREBBPc.1133G>T (p.Arg378Leu)
c.1079G>T (p.Arg360Leu)
c.380G>T (p.Arg127Leu)
 ClinVar gnomAD v4
16g.3793469C=CA2202955009CREBBPc.1133G= (p.Arg378=)
c.1079G= (p.Arg360=)
c.380G= (p.Arg127=)
16g.3793469C>GCA394562837CREBBPc.1133G>C (p.Arg378Pro)
c.1079G>C (p.Arg360Pro)
c.380G>C (p.Arg127Pro)
 gnomAD v4
16g.3793469C>TCA7870506CREBBPc.1133G>A (p.Arg378Gln)
c.1079G>A (p.Arg360Gln)
c.380G>A (p.Arg127Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3793470G>ACA16620208CREBBPc.1132C>T (p.Arg378Trp)
c.1078C>T (p.Arg360Trp)
c.379C>T (p.Arg127Trp)
 ClinVar dbSNP gnomAD v4
16g.3793470G>CCA394562842CREBBPc.1132C>G (p.Arg378Gly)
c.1078C>G (p.Arg360Gly)
c.379C>G (p.Arg127Gly)
 dbSNP gnomAD v4
16g.3793470G=CA2202955012CREBBPc.1132C= (p.Arg378=)
c.1078C= (p.Arg360=)
c.379C= (p.Arg127=)
16g.3793470G>TCA493394695CREBBPc.1132C>A (p.Arg378=)
c.1078C>A (p.Arg360=)
c.379C>A (p.Arg127=)
16g.3793471A>CCA493394697CREBBPc.1131T>G (p.Val377=)
c.1077T>G (p.Val359=)
c.378T>G (p.Val126=)
16g.3793471A>GCA493394696CREBBPc.1131T>C (p.Val377=)
c.1077T>C (p.Val359=)
c.378T>C (p.Val126=)
16g.3793471A>TCA493394698CREBBPc.1131T>A (p.Val377=)
c.1077T>A (p.Val359=)
c.378T>A (p.Val126=)
16g.3793471_3793473delinsCATTGCA2695222696CREBBPc.1129_1131delinsCAATG (p.Val377GlnfsTer13)
c.1075_1077delinsCAATG (p.Val359GlnfsTer13)
c.376_378delinsCAATG (p.Val126GlnfsTer13)
16g.3793472A=CA2202955015CREBBPc.1130T= (p.Val377=)
c.1076T= (p.Val359=)
c.377T= (p.Val126=)
16g.3793472A>CCA394562851CREBBPc.1130T>G (p.Val377Gly)
c.1076T>G (p.Val359Gly)
c.377T>G (p.Val126Gly)
 dbSNP
16g.3793472A>GCA394562857CREBBPc.1130T>C (p.Val377Ala)
c.1076T>C (p.Val359Ala)
c.377T>C (p.Val126Ala)
16g.3793472A>TCA394562861CREBBPc.1130T>A (p.Val377Asp)
c.1076T>A (p.Val359Asp)
c.377T>A (p.Val126Asp)
16g.3793473C>ACA394562867CREBBPc.1129G>T (p.Val377Phe)
c.1075G>T (p.Val359Phe)
c.376G>T (p.Val126Phe)
16g.3793473C=CA2202955017CREBBPc.1129G= (p.Val377=)
c.1075G= (p.Val359=)
c.376G= (p.Val126=)
16g.3793473C>GCA394562882CREBBPc.1129G>C (p.Val377Leu)
c.1075G>C (p.Val359Leu)
c.376G>C (p.Val126Leu)
16g.3793473C>TCA394562884CREBBPc.1129G>A (p.Val377Ile)
c.1075G>A (p.Val359Ile)
c.376G>A (p.Val126Ile)
 dbSNP
16g.3793474C>ACA394562896CREBBPc.1128G>T (p.Glu376Asp)
c.1074G>T (p.Glu358Asp)
c.375G>T (p.Glu125Asp)
16g.3793474C=CA2202955021CREBBPc.1128G= (p.Glu376=)
c.1074G= (p.Glu358=)
c.375G= (p.Glu125=)
16g.3793474C>GCA394562890CREBBPc.1128G>C (p.Glu376Asp)
c.1074G>C (p.Glu358Asp)
c.375G>C (p.Glu125Asp)
16g.3793474C>TCA7870507CREBBPc.1128G>A (p.Glu376=)
c.1074G>A (p.Glu358=)
c.375G>A (p.Glu125=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3793477_3793478dupCA915949051CREBBPc.1127_1128dup (p.Val377ArgfsTer13)
c.1073_1074dup (p.Val359ArgfsTer13)
c.374_375dup (p.Val126ArgfsTer13)
 ClinVar dbSNP
16g.3793475T>ACA394562903CREBBPc.1127A>T (p.Glu376Val)
c.1073A>T (p.Glu358Val)
c.374A>T (p.Glu125Val)
16g.3793475T>CCA394562916CREBBPc.1127A>G (p.Glu376Gly)
c.1073A>G (p.Glu358Gly)
c.374A>G (p.Glu125Gly)
16g.3793475T>GCA394562917CREBBPc.1127A>C (p.Glu376Ala)
c.1073A>C (p.Glu358Ala)
c.374A>C (p.Glu125Ala)
16g.3793476C>ACA394562920CREBBPc.1126G>T (p.Glu376Ter)
c.1072G>T (p.Glu358Ter)
c.373G>T (p.Glu125Ter)
16g.3793476C>GCA394562926CREBBPc.1126G>C (p.Glu376Gln)
c.1072G>C (p.Glu358Gln)
c.373G>C (p.Glu125Gln)
16g.3793476C>TCA394562929CREBBPc.1126G>A (p.Glu376Lys)
c.1072G>A (p.Glu358Lys)
c.373G>A (p.Glu125Lys)
16g.3793477T>ACA493394699CREBBPc.1125A>T (p.Gly375=)
c.1071A>T (p.Gly357=)
c.372A>T (p.Gly124=)
16g.3793477T>CCA276986576CREBBPc.1125A>G (p.Gly375=)
c.1071A>G (p.Gly357=)
c.372A>G (p.Gly124=)
 dbSNP
16g.3793477T>GCA493394700CREBBPc.1125A>C (p.Gly375=)
c.1071A>C (p.Gly357=)
c.372A>C (p.Gly124=)
16g.3793477T=CA2202955023CREBBPc.1125A= (p.Gly375=)
c.1071A= (p.Gly357=)
c.372A= (p.Gly124=)
16g.3793477_3793478delinsTCCA2202955025CREBBPc.1124_1125delinsGA (p.Gly375=)
c.1070_1071delinsGA (p.Gly357=)
c.371_372delinsGA (p.Gly124=)
16g.3793478C>ACA394562935CREBBPc.1124G>T (p.Gly375Val)
c.1070G>T (p.Gly357Val)
c.371G>T (p.Gly124Val)
 gnomAD v4
16g.3793478C>GCA394562942CREBBPc.1124G>C (p.Gly375Ala)
c.1070G>C (p.Gly357Ala)
c.371G>C (p.Gly124Ala)
16g.3793478C>TCA394562943CREBBPc.1124G>A (p.Gly375Glu)
c.1070G>A (p.Gly357Glu)
c.371G>A (p.Gly124Glu)
16g.3793479delCA915949052CREBBPc.1124del (p.Gly375GlufsTer14)
c.1070del (p.Gly357GlufsTer14)
c.371del (p.Gly124GlufsTer14)
 ClinVar dbSNP

Number of alleles fetched