Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3744894T>ACA394566454CREBBPc.3982A>T (p.Arg1328Trp)
n.30A>T
c.3868A>T (p.Arg1290Trp)
c.2617A>T (p.Arg873Trp)
n.446A>T
c.288A>T
n.64A>T
c.3937A>T (p.Arg1313Trp)
c.3565A>T (p.Arg1189Trp)
c.3928A>T (p.Arg1310Trp)
c.3229A>T (p.Arg1077Trp)
c.3976A>T (p.Arg1326Trp)
16g.3744894T>CCA394566456CREBBPc.3982A>G (p.Arg1328Gly)
n.30A>G
c.3868A>G (p.Arg1290Gly)
c.2617A>G (p.Arg873Gly)
n.446A>G
c.288A>G
n.64A>G
c.3937A>G (p.Arg1313Gly)
c.3565A>G (p.Arg1189Gly)
c.3928A>G (p.Arg1310Gly)
c.3229A>G (p.Arg1077Gly)
c.3976A>G (p.Arg1326Gly)
16g.3744894T>GCA493281253CREBBPc.3982A>C (p.Arg1328=)
n.30A>C
c.3868A>C (p.Arg1290=)
c.2617A>C (p.Arg873=)
n.446A>C
c.288A>C
n.64A>C
c.3937A>C (p.Arg1313=)
c.3565A>C (p.Arg1189=)
c.3928A>C (p.Arg1310=)
c.3229A>C (p.Arg1077=)
c.3976A>C (p.Arg1326=)
16g.3744895C>ACA394566458CREBBPc.3981G>T (p.Lys1327Asn)
n.29G>T
c.3867G>T (p.Lys1289Asn)
c.2616G>T (p.Lys872Asn)
n.445G>T
c.287G>T
n.63G>T
c.3936G>T (p.Lys1312Asn)
c.3564G>T (p.Lys1188Asn)
c.3927G>T (p.Lys1309Asn)
c.3228G>T (p.Lys1076Asn)
c.3975G>T (p.Lys1325Asn)
16g.3744895C>GCA394566460CREBBPc.3981G>C (p.Lys1327Asn)
n.29G>C
c.3867G>C (p.Lys1289Asn)
c.2616G>C (p.Lys872Asn)
n.445G>C
c.287G>C
n.63G>C
c.3936G>C (p.Lys1312Asn)
c.3564G>C (p.Lys1188Asn)
c.3927G>C (p.Lys1309Asn)
c.3228G>C (p.Lys1076Asn)
c.3975G>C (p.Lys1325Asn)
16g.3744895C>TCA493281254CREBBPc.3981G>A (p.Lys1327=)
n.29G>A
c.3867G>A (p.Lys1289=)
c.2616G>A (p.Lys872=)
n.445G>A
c.287G>A
n.63G>A
c.3936G>A (p.Lys1312=)
c.3564G>A (p.Lys1188=)
c.3927G>A (p.Lys1309=)
c.3228G>A (p.Lys1076=)
c.3975G>A (p.Lys1325=)
16g.3744896T>ACA394566461CREBBPc.3980A>T (p.Lys1327Met)
n.28A>T
c.3866A>T (p.Lys1289Met)
c.2615A>T (p.Lys872Met)
n.444A>T
c.286A>T
n.62A>T
c.3935A>T (p.Lys1312Met)
c.3563A>T (p.Lys1188Met)
c.3926A>T (p.Lys1309Met)
c.3227A>T (p.Lys1076Met)
c.3974A>T (p.Lys1325Met)
16g.3744896T>CCA394566463CREBBPc.3980A>G (p.Lys1327Arg)
n.28A>G
c.3866A>G (p.Lys1289Arg)
c.2615A>G (p.Lys872Arg)
n.444A>G
c.286A>G
n.62A>G
c.3935A>G (p.Lys1312Arg)
c.3563A>G (p.Lys1188Arg)
c.3926A>G (p.Lys1309Arg)
c.3227A>G (p.Lys1076Arg)
c.3974A>G (p.Lys1325Arg)
16g.3744896T>GCA394566466CREBBPc.3980A>C (p.Lys1327Thr)
n.28A>C
c.3866A>C (p.Lys1289Thr)
c.2615A>C (p.Lys872Thr)
n.444A>C
c.286A>C
n.62A>C
c.3935A>C (p.Lys1312Thr)
c.3563A>C (p.Lys1188Thr)
c.3926A>C (p.Lys1309Thr)
c.3227A>C (p.Lys1076Thr)
c.3974A>C (p.Lys1325Thr)
16g.3744897T>ACA394566467CREBBPc.3979A>T (p.Lys1327Ter)
n.27A>T
c.3865A>T (p.Lys1289Ter)
c.2614A>T (p.Lys872Ter)
n.443A>T
c.285A>T
n.61A>T
c.3934A>T (p.Lys1312Ter)
c.3562A>T (p.Lys1188Ter)
c.3925A>T (p.Lys1309Ter)
c.3226A>T (p.Lys1076Ter)
c.3973A>T (p.Lys1325Ter)
 COSMIC
16g.3744897T>CCA394566469CREBBPc.3979A>G (p.Lys1327Glu)
n.27A>G
c.3865A>G (p.Lys1289Glu)
c.2614A>G (p.Lys872Glu)
n.443A>G
c.285A>G
n.61A>G
c.3934A>G (p.Lys1312Glu)
c.3562A>G (p.Lys1188Glu)
c.3925A>G (p.Lys1309Glu)
c.3226A>G (p.Lys1076Glu)
c.3973A>G (p.Lys1325Glu)
16g.3744897T>GCA394566470CREBBPc.3979A>C (p.Lys1327Gln)
n.27A>C
c.3865A>C (p.Lys1289Gln)
c.2614A>C (p.Lys872Gln)
n.443A>C
c.285A>C
n.61A>C
c.3934A>C (p.Lys1312Gln)
c.3562A>C (p.Lys1188Gln)
c.3925A>C (p.Lys1309Gln)
c.3226A>C (p.Lys1076Gln)
c.3973A>C (p.Lys1325Gln)
16g.3744898A>CCA493281256CREBBPc.3978T>G (p.Ala1326=)
n.26T>G
c.3864T>G (p.Ala1288=)
c.2613T>G (p.Ala871=)
n.442T>G
c.284T>G
n.60T>G
c.3933T>G (p.Ala1311=)
c.3561T>G (p.Ala1187=)
c.3924T>G (p.Ala1308=)
c.3225T>G (p.Ala1075=)
c.3972T>G (p.Ala1324=)
16g.3744898A>GCA493281258CREBBPc.3978T>C (p.Ala1326=)
n.26T>C
c.3864T>C (p.Ala1288=)
c.2613T>C (p.Ala871=)
n.442T>C
c.284T>C
n.60T>C
c.3933T>C (p.Ala1311=)
c.3561T>C (p.Ala1187=)
c.3924T>C (p.Ala1308=)
c.3225T>C (p.Ala1075=)
c.3972T>C (p.Ala1324=)
 ClinVar dbSNP
16g.3744898A>TCA493281259CREBBPc.3978T>A (p.Ala1326=)
n.26T>A
c.3864T>A (p.Ala1288=)
c.2613T>A (p.Ala871=)
n.442T>A
c.284T>A
n.60T>A
c.3933T>A (p.Ala1311=)
c.3561T>A (p.Ala1187=)
c.3924T>A (p.Ala1308=)
c.3225T>A (p.Ala1075=)
c.3972T>A (p.Ala1324=)
16g.3744898_3744899delinsAGCA2202929898CREBBPc.3977_3978delinsCT (p.Ala1326=)
n.25_26delinsCT
c.3863_3864delinsCT (p.Ala1288=)
c.2612_2613delinsCT (p.Ala871=)
n.441_442delinsCT
c.283_284delinsCT
n.59_60delinsCT
c.3932_3933delinsCT (p.Ala1311=)
c.3560_3561delinsCT (p.Ala1187=)
c.3923_3924delinsCT (p.Ala1308=)
c.3224_3225delinsCT (p.Ala1075=)
c.3971_3972delinsCT (p.Ala1324=)
16g.3744899delCA891843784CREBBPc.3977del (p.Ala1326ValfsTer17)
n.25del
c.3863del (p.Ala1288ValfsTer17)
c.2612del (p.Ala871ValfsTer17)
n.441del
c.283del
n.59del
c.3932del (p.Ala1311ValfsTer17)
c.3560del (p.Ala1187ValfsTer17)
c.3923del (p.Ala1308ValfsTer17)
c.3224del (p.Ala1075ValfsTer17)
c.3971del (p.Ala1324ValfsTer17)
 ClinVar dbSNP
16g.3744899G>ACA394566476CREBBPc.3977C>T (p.Ala1326Val)
n.25C>T
c.3863C>T (p.Ala1288Val)
c.2612C>T (p.Ala871Val)
n.441C>T
c.283C>T
n.59C>T
c.3932C>T (p.Ala1311Val)
c.3560C>T (p.Ala1187Val)
c.3923C>T (p.Ala1308Val)
c.3224C>T (p.Ala1075Val)
c.3971C>T (p.Ala1324Val)
16g.3744899G>CCA394566475CREBBPc.3977C>G (p.Ala1326Gly)
n.25C>G
c.3863C>G (p.Ala1288Gly)
c.2612C>G (p.Ala871Gly)
n.441C>G
c.283C>G
n.59C>G
c.3932C>G (p.Ala1311Gly)
c.3560C>G (p.Ala1187Gly)
c.3923C>G (p.Ala1308Gly)
c.3224C>G (p.Ala1075Gly)
c.3971C>G (p.Ala1324Gly)
16g.3744899G>TCA394566473CREBBPc.3977C>A (p.Ala1326Asp)
n.25C>A
c.3863C>A (p.Ala1288Asp)
c.2612C>A (p.Ala871Asp)
n.441C>A
c.283C>A
n.59C>A
c.3932C>A (p.Ala1311Asp)
c.3560C>A (p.Ala1187Asp)
c.3923C>A (p.Ala1308Asp)
c.3224C>A (p.Ala1075Asp)
c.3971C>A (p.Ala1324Asp)
16g.3744900C>ACA394566478CREBBPc.3976G>T (p.Ala1326Ser)
n.24G>T
c.3862G>T (p.Ala1288Ser)
c.2611G>T (p.Ala871Ser)
n.440G>T
c.282G>T
n.58G>T
c.3931G>T (p.Ala1311Ser)
c.3559G>T (p.Ala1187Ser)
c.3922G>T (p.Ala1308Ser)
c.3223G>T (p.Ala1075Ser)
c.3970G>T (p.Ala1324Ser)
16g.3744900C>GCA394566482CREBBPc.3976G>C (p.Ala1326Pro)
n.24G>C
c.3862G>C (p.Ala1288Pro)
c.2611G>C (p.Ala871Pro)
n.440G>C
c.282G>C
n.58G>C
c.3931G>C (p.Ala1311Pro)
c.3559G>C (p.Ala1187Pro)
c.3922G>C (p.Ala1308Pro)
c.3223G>C (p.Ala1075Pro)
c.3970G>C (p.Ala1324Pro)
16g.3744900C>TCA394566480CREBBPc.3976G>A (p.Ala1326Thr)
n.24G>A
c.3862G>A (p.Ala1288Thr)
c.2611G>A (p.Ala871Thr)
n.440G>A
c.282G>A
n.58G>A
c.3931G>A (p.Ala1311Thr)
c.3559G>A (p.Ala1187Thr)
c.3922G>A (p.Ala1308Thr)
c.3223G>A (p.Ala1075Thr)
c.3970G>A (p.Ala1324Thr)
16g.3744901A=CA2202929900CREBBPc.3975T= (p.Ser1325=)
n.23T=
c.3861T= (p.Ser1287=)
c.2610T= (p.Ser870=)
n.439T=
c.281T=
n.57T=
c.3930T= (p.Ser1310=)
c.3558T= (p.Ser1186=)
c.3921T= (p.Ser1307=)
c.3222T= (p.Ser1074=)
c.3969T= (p.Ser1323=)
16g.3744901A>CCA394566484CREBBPc.3975T>G (p.Ser1325Arg)
n.23T>G
c.3861T>G (p.Ser1287Arg)
c.2610T>G (p.Ser870Arg)
n.439T>G
c.281T>G
n.57T>G
c.3930T>G (p.Ser1310Arg)
c.3558T>G (p.Ser1186Arg)
c.3921T>G (p.Ser1307Arg)
c.3222T>G (p.Ser1074Arg)
c.3969T>G (p.Ser1323Arg)
16g.3744901A>GCA276987209CREBBPc.3975T>C (p.Ser1325=)
n.23T>C
c.3861T>C (p.Ser1287=)
c.2610T>C (p.Ser870=)
n.439T>C
c.281T>C
n.57T>C
c.3930T>C (p.Ser1310=)
c.3558T>C (p.Ser1186=)
c.3921T>C (p.Ser1307=)
c.3222T>C (p.Ser1074=)
c.3969T>C (p.Ser1323=)
 dbSNP gnomAD v4
16g.3744901A>TCA394566485CREBBPc.3975T>A (p.Ser1325Arg)
n.23T>A
c.3861T>A (p.Ser1287Arg)
c.2610T>A (p.Ser870Arg)
n.439T>A
c.281T>A
n.57T>A
c.3930T>A (p.Ser1310Arg)
c.3558T>A (p.Ser1186Arg)
c.3921T>A (p.Ser1307Arg)
c.3222T>A (p.Ser1074Arg)
c.3969T>A (p.Ser1323Arg)
16g.3744902C>ACA394566489CREBBPc.3974G>T (p.Ser1325Ile)
n.22G>T
c.3860G>T (p.Ser1287Ile)
c.2609G>T (p.Ser870Ile)
n.438G>T
c.280G>T
n.56G>T
c.3929G>T (p.Ser1310Ile)
c.3557G>T (p.Ser1186Ile)
c.3920G>T (p.Ser1307Ile)
c.3221G>T (p.Ser1074Ile)
c.3968G>T (p.Ser1323Ile)
 ClinVar dbSNP
16g.3744902C=CA2202929902CREBBPc.3974G= (p.Ser1325=)
n.22G=
c.3860G= (p.Ser1287=)
c.2609G= (p.Ser870=)
n.438G=
c.280G=
n.56G=
c.3929G= (p.Ser1310=)
c.3557G= (p.Ser1186=)
c.3920G= (p.Ser1307=)
c.3221G= (p.Ser1074=)
c.3968G= (p.Ser1323=)
16g.3744902C>GCA394566490CREBBPc.3974G>C (p.Ser1325Thr)
n.22G>C
c.3860G>C (p.Ser1287Thr)
c.2609G>C (p.Ser870Thr)
n.438G>C
c.280G>C
n.56G>C
c.3929G>C (p.Ser1310Thr)
c.3557G>C (p.Ser1186Thr)
c.3920G>C (p.Ser1307Thr)
c.3221G>C (p.Ser1074Thr)
c.3968G>C (p.Ser1323Thr)
16g.3744902C>TCA7869653CREBBPc.3974G>A (p.Ser1325Asn)
n.22G>A
c.3860G>A (p.Ser1287Asn)
c.2609G>A (p.Ser870Asn)
n.438G>A
c.280G>A
n.56G>A
c.3929G>A (p.Ser1310Asn)
c.3557G>A (p.Ser1186Asn)
c.3920G>A (p.Ser1307Asn)
c.3221G>A (p.Ser1074Asn)
c.3968G>A (p.Ser1323Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3744903T>ACA394566494CREBBPc.3973A>T (p.Ser1325Cys)
n.21A>T
c.3859A>T (p.Ser1287Cys)
c.2608A>T (p.Ser870Cys)
n.437A>T
c.279A>T
n.55A>T
c.3928A>T (p.Ser1310Cys)
c.3556A>T (p.Ser1186Cys)
c.3919A>T (p.Ser1307Cys)
c.3220A>T (p.Ser1074Cys)
c.3967A>T (p.Ser1323Cys)
16g.3744903T>CCA394566495CREBBPc.3973A>G (p.Ser1325Gly)
n.21A>G
c.3859A>G (p.Ser1287Gly)
c.2608A>G (p.Ser870Gly)
n.437A>G
c.279A>G
n.55A>G
c.3928A>G (p.Ser1310Gly)
c.3556A>G (p.Ser1186Gly)
c.3919A>G (p.Ser1307Gly)
c.3220A>G (p.Ser1074Gly)
c.3967A>G (p.Ser1323Gly)
16g.3744903T>GCA276987224CREBBPc.3973A>C (p.Ser1325Arg)
n.21A>C
c.3859A>C (p.Ser1287Arg)
c.2608A>C (p.Ser870Arg)
n.437A>C
c.279A>C
n.55A>C
c.3928A>C (p.Ser1310Arg)
c.3556A>C (p.Ser1186Arg)
c.3919A>C (p.Ser1307Arg)
c.3220A>C (p.Ser1074Arg)
c.3967A>C (p.Ser1323Arg)
 ClinVar dbSNP gnomAD v4
16g.3744903T=CA2202929903CREBBPc.3973A= (p.Ser1325=)
n.21A=
c.3859A= (p.Ser1287=)
c.2608A= (p.Ser870=)
n.437A=
c.279A=
n.55A=
c.3928A= (p.Ser1310=)
c.3556A= (p.Ser1186=)
c.3919A= (p.Ser1307=)
c.3220A= (p.Ser1074=)
c.3967A= (p.Ser1323=)
16g.3744904G>ACA493281266CREBBPc.3972C>T (p.Phe1324=)
n.20C>T
c.3858C>T (p.Phe1286=)
c.2607C>T (p.Phe869=)
n.436C>T
c.278C>T
n.54C>T
c.3927C>T (p.Phe1309=)
c.3555C>T (p.Phe1185=)
c.3918C>T (p.Phe1306=)
c.3219C>T (p.Phe1073=)
c.3966C>T (p.Phe1322=)
16g.3744904G>CCA394566498CREBBPc.3972C>G (p.Phe1324Leu)
n.20C>G
c.3858C>G (p.Phe1286Leu)
c.2607C>G (p.Phe869Leu)
n.436C>G
c.278C>G
n.54C>G
c.3927C>G (p.Phe1309Leu)
c.3555C>G (p.Phe1185Leu)
c.3918C>G (p.Phe1306Leu)
c.3219C>G (p.Phe1073Leu)
c.3966C>G (p.Phe1322Leu)
 gnomAD v4
16g.3744904G>TCA394566500CREBBPc.3972C>A (p.Phe1324Leu)
n.20C>A
c.3858C>A (p.Phe1286Leu)
c.2607C>A (p.Phe869Leu)
n.436C>A
c.278C>A
n.54C>A
c.3927C>A (p.Phe1309Leu)
c.3555C>A (p.Phe1185Leu)
c.3918C>A (p.Phe1306Leu)
c.3219C>A (p.Phe1073Leu)
c.3966C>A (p.Phe1322Leu)
16g.3744905A=CA2202929905CREBBPc.3971T= (p.Phe1324=)
n.19T=
c.3857T= (p.Phe1286=)
c.2606T= (p.Phe869=)
n.435T=
c.277T=
n.53T=
c.3926T= (p.Phe1309=)
c.3554T= (p.Phe1185=)
c.3917T= (p.Phe1306=)
c.3218T= (p.Phe1073=)
c.3965T= (p.Phe1322=)
16g.3744905A>CCA394566503CREBBPc.3971T>G (p.Phe1324Cys)
n.19T>G
c.3857T>G (p.Phe1286Cys)
c.2606T>G (p.Phe869Cys)
n.435T>G
c.277T>G
n.53T>G
c.3926T>G (p.Phe1309Cys)
c.3554T>G (p.Phe1185Cys)
c.3917T>G (p.Phe1306Cys)
c.3218T>G (p.Phe1073Cys)
c.3965T>G (p.Phe1322Cys)
16g.3744905A>GCA394566505CREBBPc.3971T>C (p.Phe1324Ser)
n.19T>C
c.3857T>C (p.Phe1286Ser)
c.2606T>C (p.Phe869Ser)
n.435T>C
c.277T>C
n.53T>C
c.3926T>C (p.Phe1309Ser)
c.3554T>C (p.Phe1185Ser)
c.3917T>C (p.Phe1306Ser)
c.3218T>C (p.Phe1073Ser)
c.3965T>C (p.Phe1322Ser)
16g.3744905A>TCA394566507CREBBPc.3971T>A (p.Phe1324Tyr)
n.19T>A
c.3857T>A (p.Phe1286Tyr)
c.2606T>A (p.Phe869Tyr)
n.435T>A
c.277T>A
n.53T>A
c.3926T>A (p.Phe1309Tyr)
c.3554T>A (p.Phe1185Tyr)
c.3917T>A (p.Phe1306Tyr)
c.3218T>A (p.Phe1073Tyr)
c.3965T>A (p.Phe1322Tyr)
 dbSNP gnomAD v2 gnomAD v4
16g.3744906A=CA2202929907CREBBPc.3970T= (p.Phe1324=)
n.18T=
c.3856T= (p.Phe1286=)
c.2605T= (p.Phe869=)
n.434T=
c.276T=
n.52T=
c.3925T= (p.Phe1309=)
c.3553T= (p.Phe1185=)
c.3916T= (p.Phe1306=)
c.3217T= (p.Phe1073=)
c.3964T= (p.Phe1322=)
16g.3744906A>CCA394566510CREBBPc.3970T>G (p.Phe1324Val)
n.18T>G
c.3856T>G (p.Phe1286Val)
c.2605T>G (p.Phe869Val)
n.434T>G
c.276T>G
n.52T>G
c.3925T>G (p.Phe1309Val)
c.3553T>G (p.Phe1185Val)
c.3916T>G (p.Phe1306Val)
c.3217T>G (p.Phe1073Val)
c.3964T>G (p.Phe1322Val)
16g.3744906A>GCA394566509CREBBPc.3970T>C (p.Phe1324Leu)
n.18T>C
c.3856T>C (p.Phe1286Leu)
c.2605T>C (p.Phe869Leu)
n.434T>C
c.276T>C
n.52T>C
c.3925T>C (p.Phe1309Leu)
c.3553T>C (p.Phe1185Leu)
c.3916T>C (p.Phe1306Leu)
c.3217T>C (p.Phe1073Leu)
c.3964T>C (p.Phe1322Leu)
16g.3744906A>TCA7869654CREBBPc.3970T>A (p.Phe1324Ile)
n.18T>A
c.3856T>A (p.Phe1286Ile)
c.2605T>A (p.Phe869Ile)
n.434T>A
c.276T>A
n.52T>A
c.3925T>A (p.Phe1309Ile)
c.3553T>A (p.Phe1185Ile)
c.3916T>A (p.Phe1306Ile)
c.3217T>A (p.Phe1073Ile)
c.3964T>A (p.Phe1322Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3744907T>ACA394566512CREBBPc.3969A>T (p.Lys1323Asn)
n.17A>T
c.3855A>T (p.Lys1285Asn)
c.2604A>T (p.Lys868Asn)
n.433A>T
c.275A>T
n.51A>T
c.3924A>T (p.Lys1308Asn)
c.3552A>T (p.Lys1184Asn)
c.3915A>T (p.Lys1305Asn)
c.3216A>T (p.Lys1072Asn)
c.3963A>T (p.Lys1321Asn)
16g.3744907T>CCA493281268CREBBPc.3969A>G (p.Lys1323=)
n.17A>G
c.3855A>G (p.Lys1285=)
c.2604A>G (p.Lys868=)
n.433A>G
c.275A>G
n.51A>G
c.3924A>G (p.Lys1308=)
c.3552A>G (p.Lys1184=)
c.3915A>G (p.Lys1305=)
c.3216A>G (p.Lys1072=)
c.3963A>G (p.Lys1321=)
 COSMIC
16g.3744907T>GCA394566514CREBBPc.3969A>C (p.Lys1323Asn)
n.17A>C
c.3855A>C (p.Lys1285Asn)
c.2604A>C (p.Lys868Asn)
n.433A>C
c.275A>C
n.51A>C
c.3924A>C (p.Lys1308Asn)
c.3552A>C (p.Lys1184Asn)
c.3915A>C (p.Lys1305Asn)
c.3216A>C (p.Lys1072Asn)
c.3963A>C (p.Lys1321Asn)
16g.3744908T>ACA394566516CREBBPc.3968A>T (p.Lys1323Ile)
n.16A>T
c.3854A>T (p.Lys1285Ile)
c.2603A>T (p.Lys868Ile)
n.432A>T
c.274A>T
n.50A>T
c.3923A>T (p.Lys1308Ile)
c.3551A>T (p.Lys1184Ile)
c.3914A>T (p.Lys1305Ile)
c.3215A>T (p.Lys1072Ile)
c.3962A>T (p.Lys1321Ile)
16g.3744908T>CCA394566518CREBBPc.3968A>G (p.Lys1323Arg)
n.16A>G
c.3854A>G (p.Lys1285Arg)
c.2603A>G (p.Lys868Arg)
n.432A>G
c.274A>G
n.50A>G
c.3923A>G (p.Lys1308Arg)
c.3551A>G (p.Lys1184Arg)
c.3914A>G (p.Lys1305Arg)
c.3215A>G (p.Lys1072Arg)
c.3962A>G (p.Lys1321Arg)
16g.3744908T>GCA394566520CREBBPc.3968A>C (p.Lys1323Thr)
n.16A>C
c.3854A>C (p.Lys1285Thr)
c.2603A>C (p.Lys868Thr)
n.432A>C
c.274A>C
n.50A>C
c.3923A>C (p.Lys1308Thr)
c.3551A>C (p.Lys1184Thr)
c.3914A>C (p.Lys1305Thr)
c.3215A>C (p.Lys1072Thr)
c.3962A>C (p.Lys1321Thr)
 dbSNP gnomAD v2 gnomAD v4
16g.3744908T=CA2202929908CREBBPc.3968A= (p.Lys1323=)
n.16A=
c.3854A= (p.Lys1285=)
c.2603A= (p.Lys868=)
n.432A=
c.274A=
n.50A=
c.3923A= (p.Lys1308=)
c.3551A= (p.Lys1184=)
c.3914A= (p.Lys1305=)
c.3215A= (p.Lys1072=)
c.3962A= (p.Lys1321=)
16g.3744909T>ACA394566522CREBBPc.3967A>T (p.Lys1323Ter)
n.15A>T
c.3853A>T (p.Lys1285Ter)
c.2602A>T (p.Lys868Ter)
n.431A>T
c.273A>T
n.49A>T
c.3922A>T (p.Lys1308Ter)
c.3550A>T (p.Lys1184Ter)
c.3913A>T (p.Lys1305Ter)
c.3214A>T (p.Lys1072Ter)
c.3961A>T (p.Lys1321Ter)
 COSMIC
16g.3744909T>CCA394566524CREBBPc.3967A>G (p.Lys1323Glu)
n.15A>G
c.3853A>G (p.Lys1285Glu)
c.2602A>G (p.Lys868Glu)
n.431A>G
c.273A>G
n.49A>G
c.3922A>G (p.Lys1308Glu)
c.3550A>G (p.Lys1184Glu)
c.3913A>G (p.Lys1305Glu)
c.3214A>G (p.Lys1072Glu)
c.3961A>G (p.Lys1321Glu)
16g.3744909T>GCA394566526CREBBPc.3967A>C (p.Lys1323Gln)
n.15A>C
c.3853A>C (p.Lys1285Gln)
c.2602A>C (p.Lys868Gln)
n.431A>C
c.273A>C
n.49A>C
c.3922A>C (p.Lys1308Gln)
c.3550A>C (p.Lys1184Gln)
c.3913A>C (p.Lys1305Gln)
c.3214A>C (p.Lys1072Gln)
c.3961A>C (p.Lys1321Gln)
16g.3744910G>ACA493281271CREBBPc.3966C>T (p.Asn1322=)
n.14C>T
c.3852C>T (p.Asn1284=)
c.2601C>T (p.Asn867=)
n.430C>T
c.272C>T
n.48C>T
c.3921C>T (p.Asn1307=)
c.3549C>T (p.Asn1183=)
c.3912C>T (p.Asn1304=)
c.3213C>T (p.Asn1071=)
c.3960C>T (p.Asn1320=)
 dbSNP gnomAD v4
16g.3744910G>CCA394566528CREBBPc.3966C>G (p.Asn1322Lys)
n.14C>G
c.3852C>G (p.Asn1284Lys)
c.2601C>G (p.Asn867Lys)
n.430C>G
c.272C>G
n.48C>G
c.3921C>G (p.Asn1307Lys)
c.3549C>G (p.Asn1183Lys)
c.3912C>G (p.Asn1304Lys)
c.3213C>G (p.Asn1071Lys)
c.3960C>G (p.Asn1320Lys)
16g.3744910G=CA2202929910CREBBPc.3966C= (p.Asn1322=)
n.14C=
c.3852C= (p.Asn1284=)
c.2601C= (p.Asn867=)
n.430C=
c.272C=
n.48C=
c.3921C= (p.Asn1307=)
c.3549C= (p.Asn1183=)
c.3912C= (p.Asn1304=)
c.3213C= (p.Asn1071=)
c.3960C= (p.Asn1320=)
16g.3744910G>TCA394566529CREBBPc.3966C>A (p.Asn1322Lys)
n.14C>A
c.3852C>A (p.Asn1284Lys)
c.2601C>A (p.Asn867Lys)
n.430C>A
c.272C>A
n.48C>A
c.3921C>A (p.Asn1307Lys)
c.3549C>A (p.Asn1183Lys)
c.3912C>A (p.Asn1304Lys)
c.3213C>A (p.Asn1071Lys)
c.3960C>A (p.Asn1320Lys)
 dbSNP
16g.3744911T>ACA394566533CREBBPc.3965A>T (p.Asn1322Ile)
n.13A>T
c.3851A>T (p.Asn1284Ile)
c.2600A>T (p.Asn867Ile)
n.429A>T
c.271A>T
n.47A>T
c.3920A>T (p.Asn1307Ile)
c.3548A>T (p.Asn1183Ile)
c.3911A>T (p.Asn1304Ile)
c.3212A>T (p.Asn1071Ile)
c.3959A>T (p.Asn1320Ile)
16g.3744911T>CCA394566532CREBBPc.3965A>G (p.Asn1322Ser)
n.13A>G
c.3851A>G (p.Asn1284Ser)
c.2600A>G (p.Asn867Ser)
n.429A>G
c.271A>G
n.47A>G
c.3920A>G (p.Asn1307Ser)
c.3548A>G (p.Asn1183Ser)
c.3911A>G (p.Asn1304Ser)
c.3212A>G (p.Asn1071Ser)
c.3959A>G (p.Asn1320Ser)
16g.3744911T>GCA394566530CREBBPc.3965A>C (p.Asn1322Thr)
n.13A>C
c.3851A>C (p.Asn1284Thr)
c.2600A>C (p.Asn867Thr)
n.429A>C
c.271A>C
n.47A>C
c.3920A>C (p.Asn1307Thr)
c.3548A>C (p.Asn1183Thr)
c.3911A>C (p.Asn1304Thr)
c.3212A>C (p.Asn1071Thr)
c.3959A>C (p.Asn1320Thr)
16g.3744912T>ACA394566535CREBBPc.3964A>T (p.Asn1322Tyr)
n.12A>T
c.3850A>T (p.Asn1284Tyr)
c.2599A>T (p.Asn867Tyr)
n.428A>T
c.270A>T
n.46A>T
c.3919A>T (p.Asn1307Tyr)
c.3547A>T (p.Asn1183Tyr)
c.3910A>T (p.Asn1304Tyr)
c.3211A>T (p.Asn1071Tyr)
c.3958A>T (p.Asn1320Tyr)
 dbSNP
16g.3744912T>CCA394566537CREBBPc.3964A>G (p.Asn1322Asp)
n.12A>G
c.3850A>G (p.Asn1284Asp)
c.2599A>G (p.Asn867Asp)
n.428A>G
c.270A>G
n.46A>G
c.3919A>G (p.Asn1307Asp)
c.3547A>G (p.Asn1183Asp)
c.3910A>G (p.Asn1304Asp)
c.3211A>G (p.Asn1071Asp)
c.3958A>G (p.Asn1320Asp)
16g.3744912T>GCA394566539CREBBPc.3964A>C (p.Asn1322His)
n.12A>C
c.3850A>C (p.Asn1284His)
c.2599A>C (p.Asn867His)
n.428A>C
c.270A>C
n.46A>C
c.3919A>C (p.Asn1307His)
c.3547A>C (p.Asn1183His)
c.3910A>C (p.Asn1304His)
c.3211A>C (p.Asn1071His)
c.3958A>C (p.Asn1320His)
16g.3744912T=CA2202929911CREBBPc.3964A= (p.Asn1322=)
n.12A=
c.3850A= (p.Asn1284=)
c.2599A= (p.Asn867=)
n.428A=
c.270A=
n.46A=
c.3919A= (p.Asn1307=)
c.3547A= (p.Asn1183=)
c.3910A= (p.Asn1304=)
c.3211A= (p.Asn1071=)
c.3958A= (p.Asn1320=)
16g.3744913T>ACA394566541CREBBPc.3963A>T (p.Glu1321Asp)
n.11A>T
c.3849A>T (p.Glu1283Asp)
c.2598A>T (p.Glu866Asp)
n.427A>T
c.269A>T
n.45A>T
c.3918A>T (p.Glu1306Asp)
c.3546A>T (p.Glu1182Asp)
c.3909A>T (p.Glu1303Asp)
c.3210A>T (p.Glu1070Asp)
c.3957A>T (p.Glu1319Asp)
16g.3744913T>CCA493281274CREBBPc.3963A>G (p.Glu1321=)
n.11A>G
c.3849A>G (p.Glu1283=)
c.2598A>G (p.Glu866=)
n.427A>G
c.269A>G
n.45A>G
c.3918A>G (p.Glu1306=)
c.3546A>G (p.Glu1182=)
c.3909A>G (p.Glu1303=)
c.3210A>G (p.Glu1070=)
c.3957A>G (p.Glu1319=)
 gnomAD v4
16g.3744913T>GCA394566543CREBBPc.3963A>C (p.Glu1321Asp)
n.11A>C
c.3849A>C (p.Glu1283Asp)
c.2598A>C (p.Glu866Asp)
n.427A>C
c.269A>C
n.45A>C
c.3918A>C (p.Glu1306Asp)
c.3546A>C (p.Glu1182Asp)
c.3909A>C (p.Glu1303Asp)
c.3210A>C (p.Glu1070Asp)
c.3957A>C (p.Glu1319Asp)
16g.3744914T>ACA394566545CREBBPc.3962A>T (p.Glu1321Val)
n.10A>T
c.3848A>T (p.Glu1283Val)
c.2597A>T (p.Glu866Val)
n.426A>T
c.268A>T
n.44A>T
c.3917A>T (p.Glu1306Val)
c.3545A>T (p.Glu1182Val)
c.3908A>T (p.Glu1303Val)
c.3209A>T (p.Glu1070Val)
c.3956A>T (p.Glu1319Val)
16g.3744914T>CCA394566547CREBBPc.3962A>G (p.Glu1321Gly)
n.10A>G
c.3848A>G (p.Glu1283Gly)
c.2597A>G (p.Glu866Gly)
n.426A>G
c.268A>G
n.44A>G
c.3917A>G (p.Glu1306Gly)
c.3545A>G (p.Glu1182Gly)
c.3908A>G (p.Glu1303Gly)
c.3209A>G (p.Glu1070Gly)
c.3956A>G (p.Glu1319Gly)
16g.3744914T>GCA394566549CREBBPc.3962A>C (p.Glu1321Ala)
n.10A>C
c.3848A>C (p.Glu1283Ala)
c.2597A>C (p.Glu866Ala)
n.426A>C
c.268A>C
n.44A>C
c.3917A>C (p.Glu1306Ala)
c.3545A>C (p.Glu1182Ala)
c.3908A>C (p.Glu1303Ala)
c.3209A>C (p.Glu1070Ala)
c.3956A>C (p.Glu1319Ala)
16g.3744915C>ACA394566551CREBBPc.3961G>T (p.Glu1321Ter)
n.9G>T
c.3847G>T (p.Glu1283Ter)
c.2596G>T (p.Glu866Ter)
n.425G>T
c.267G>T
n.43G>T
c.3916G>T (p.Glu1306Ter)
c.3544G>T (p.Glu1182Ter)
c.3907G>T (p.Glu1303Ter)
c.3208G>T (p.Glu1070Ter)
c.3955G>T (p.Glu1319Ter)
16g.3744915C>GCA394566553CREBBPc.3961G>C (p.Glu1321Gln)
n.9G>C
c.3847G>C (p.Glu1283Gln)
c.2596G>C (p.Glu866Gln)
n.425G>C
c.267G>C
n.43G>C
c.3916G>C (p.Glu1306Gln)
c.3544G>C (p.Glu1182Gln)
c.3907G>C (p.Glu1303Gln)
c.3208G>C (p.Glu1070Gln)
c.3955G>C (p.Glu1319Gln)
 dbSNP
16g.3744915C>TCA394566555CREBBPc.3961G>A (p.Glu1321Lys)
n.9G>A
c.3847G>A (p.Glu1283Lys)
c.2596G>A (p.Glu866Lys)
n.425G>A
c.267G>A
n.43G>A
c.3916G>A (p.Glu1306Lys)
c.3544G>A (p.Glu1182Lys)
c.3907G>A (p.Glu1303Lys)
c.3208G>A (p.Glu1070Lys)
c.3955G>A (p.Glu1319Lys)
16g.3744916T>ACA394566557CREBBPc.3960A>T (p.Lys1320Asn)
n.8A>T
c.3846A>T (p.Lys1282Asn)
c.2595A>T (p.Lys865Asn)
n.424A>T
c.266A>T
n.42A>T
c.3915A>T (p.Lys1305Asn)
c.3543A>T (p.Lys1181Asn)
c.3906A>T (p.Lys1302Asn)
c.3207A>T (p.Lys1069Asn)
c.3954A>T (p.Lys1318Asn)
16g.3744916T>CCA493281276CREBBPc.3960A>G (p.Lys1320=)
n.8A>G
c.3846A>G (p.Lys1282=)
c.2595A>G (p.Lys865=)
n.424A>G
c.266A>G
n.42A>G
c.3915A>G (p.Lys1305=)
c.3543A>G (p.Lys1181=)
c.3906A>G (p.Lys1302=)
c.3207A>G (p.Lys1069=)
c.3954A>G (p.Lys1318=)
16g.3744916T>GCA394566559CREBBPc.3960A>C (p.Lys1320Asn)
n.8A>C
c.3846A>C (p.Lys1282Asn)
c.2595A>C (p.Lys865Asn)
n.424A>C
c.266A>C
n.42A>C
c.3915A>C (p.Lys1305Asn)
c.3543A>C (p.Lys1181Asn)
c.3906A>C (p.Lys1302Asn)
c.3207A>C (p.Lys1069Asn)
c.3954A>C (p.Lys1318Asn)
16g.3744917T>ACA394566561CREBBPc.3959A>T (p.Lys1320Ile)
n.7A>T
c.3845A>T (p.Lys1282Ile)
c.2594A>T (p.Lys865Ile)
n.423A>T
c.265A>T
n.41A>T
c.3914A>T (p.Lys1305Ile)
c.3542A>T (p.Lys1181Ile)
c.3905A>T (p.Lys1302Ile)
c.3206A>T (p.Lys1069Ile)
c.3953A>T (p.Lys1318Ile)
16g.3744917T>CCA394566565CREBBPc.3959A>G (p.Lys1320Arg)
n.7A>G
c.3845A>G (p.Lys1282Arg)
c.2594A>G (p.Lys865Arg)
n.423A>G
c.265A>G
n.41A>G
c.3914A>G (p.Lys1305Arg)
c.3542A>G (p.Lys1181Arg)
c.3905A>G (p.Lys1302Arg)
c.3206A>G (p.Lys1069Arg)
c.3953A>G (p.Lys1318Arg)
 COSMIC
16g.3744917T>GCA394566563CREBBPc.3959A>C (p.Lys1320Thr)
n.7A>C
c.3845A>C (p.Lys1282Thr)
c.2594A>C (p.Lys865Thr)
n.423A>C
c.265A>C
n.41A>C
c.3914A>C (p.Lys1305Thr)
c.3542A>C (p.Lys1181Thr)
c.3905A>C (p.Lys1302Thr)
c.3206A>C (p.Lys1069Thr)
c.3953A>C (p.Lys1318Thr)
16g.3744918T>ACA394566567CREBBPc.3958A>T (p.Lys1320Ter)
n.6A>T
c.3844A>T (p.Lys1282Ter)
c.2593A>T (p.Lys865Ter)
n.422A>T
c.264A>T
n.40A>T
c.3913A>T (p.Lys1305Ter)
c.3541A>T (p.Lys1181Ter)
c.3904A>T (p.Lys1302Ter)
c.3205A>T (p.Lys1069Ter)
c.3952A>T (p.Lys1318Ter)
16g.3744918T>CCA394566568CREBBPc.3958A>G (p.Lys1320Glu)
n.6A>G
c.3844A>G (p.Lys1282Glu)
c.2593A>G (p.Lys865Glu)
n.422A>G
c.264A>G
n.40A>G
c.3913A>G (p.Lys1305Glu)
c.3541A>G (p.Lys1181Glu)
c.3904A>G (p.Lys1302Glu)
c.3205A>G (p.Lys1069Glu)
c.3952A>G (p.Lys1318Glu)
 dbSNP
16g.3744918T>GCA394566570CREBBPc.3958A>C (p.Lys1320Gln)
n.6A>C
c.3844A>C (p.Lys1282Gln)
c.2593A>C (p.Lys865Gln)
n.422A>C
c.264A>C
n.40A>C
c.3913A>C (p.Lys1305Gln)
c.3541A>C (p.Lys1181Gln)
c.3904A>C (p.Lys1302Gln)
c.3205A>C (p.Lys1069Gln)
c.3952A>C (p.Lys1318Gln)
16g.3744918T=CA2202929913CREBBPc.3958A= (p.Lys1320=)
n.6A=
c.3844A= (p.Lys1282=)
c.2593A= (p.Lys865=)
n.422A=
c.264A=
n.40A=
c.3913A= (p.Lys1305=)
c.3541A= (p.Lys1181=)
c.3904A= (p.Lys1302=)
c.3205A= (p.Lys1069=)
c.3952A= (p.Lys1318=)
16g.3744919T>ACA493281278CREBBPc.3957A>T (p.Arg1319=)
n.5A>T
c.3843A>T (p.Arg1281=)
c.2592A>T (p.Arg864=)
n.421A>T
c.263A>T
n.39A>T
c.3912A>T (p.Arg1304=)
c.3540A>T (p.Arg1180=)
c.3903A>T (p.Arg1301=)
c.3204A>T (p.Arg1068=)
c.3951A>T (p.Arg1317=)
16g.3744919T>CCA493281279CREBBPc.3957A>G (p.Arg1319=)
n.5A>G
c.3843A>G (p.Arg1281=)
c.2592A>G (p.Arg864=)
n.421A>G
c.263A>G
n.39A>G
c.3912A>G (p.Arg1304=)
c.3540A>G (p.Arg1180=)
c.3903A>G (p.Arg1301=)
c.3204A>G (p.Arg1068=)
c.3951A>G (p.Arg1317=)
 dbSNP gnomAD v2 gnomAD v4
16g.3744919T>GCA493281280CREBBPc.3957A>C (p.Arg1319=)
n.5A>C
c.3843A>C (p.Arg1281=)
c.2592A>C (p.Arg864=)
n.421A>C
c.263A>C
n.39A>C
c.3912A>C (p.Arg1304=)
c.3540A>C (p.Arg1180=)
c.3903A>C (p.Arg1301=)
c.3204A>C (p.Arg1068=)
c.3951A>C (p.Arg1317=)
16g.3744919T=CA2202929914CREBBPc.3957A= (p.Arg1319=)
n.5A=
c.3843A= (p.Arg1281=)
c.2592A= (p.Arg864=)
n.421A=
c.263A=
n.39A=
c.3912A= (p.Arg1304=)
c.3540A= (p.Arg1180=)
c.3903A= (p.Arg1301=)
c.3204A= (p.Arg1068=)
c.3951A= (p.Arg1317=)
16g.3744920C>ACA394566572CREBBPc.3956G>T (p.Arg1319Leu)
n.4G>T
c.3842G>T (p.Arg1281Leu)
c.2591G>T (p.Arg864Leu)
n.420G>T
c.262G>T
n.38G>T
c.3911G>T (p.Arg1304Leu)
c.3539G>T (p.Arg1180Leu)
c.3902G>T (p.Arg1301Leu)
c.3203G>T (p.Arg1068Leu)
c.3950G>T (p.Arg1317Leu)
16g.3744920C=CA2202929916CREBBPc.3956G= (p.Arg1319=)
n.4G=
c.3842G= (p.Arg1281=)
c.2591G= (p.Arg864=)
n.420G=
c.262G=
n.38G=
c.3911G= (p.Arg1304=)
c.3539G= (p.Arg1180=)
c.3902G= (p.Arg1301=)
c.3203G= (p.Arg1068=)
c.3950G= (p.Arg1317=)
16g.3744920C>GCA394566574CREBBPc.3956G>C (p.Arg1319Pro)
n.4G>C
c.3842G>C (p.Arg1281Pro)
c.2591G>C (p.Arg864Pro)
n.420G>C
c.262G>C
n.38G>C
c.3911G>C (p.Arg1304Pro)
c.3539G>C (p.Arg1180Pro)
c.3902G>C (p.Arg1301Pro)
c.3203G>C (p.Arg1068Pro)
c.3950G>C (p.Arg1317Pro)
16g.3744920C>TCA394566575CREBBPc.3956G>A (p.Arg1319Gln)
n.4G>A
c.3842G>A (p.Arg1281Gln)
c.2591G>A (p.Arg864Gln)
n.420G>A
c.262G>A
n.38G>A
c.3911G>A (p.Arg1304Gln)
c.3539G>A (p.Arg1180Gln)
c.3902G>A (p.Arg1301Gln)
c.3203G>A (p.Arg1068Gln)
c.3950G>A (p.Arg1317Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.3744921G>ACA394566577CREBBPc.3955C>T (p.Arg1319Ter)
n.3C>T
c.3841C>T (p.Arg1281Ter)
c.2590C>T (p.Arg864Ter)
n.419C>T
c.261C>T
n.37C>T
c.3910C>T (p.Arg1304Ter)
c.3538C>T (p.Arg1180Ter)
c.3901C>T (p.Arg1301Ter)
c.3202C>T (p.Arg1068Ter)
c.3949C>T (p.Arg1317Ter)
 ClinVar dbSNP COSMIC
16g.3744921G>CCA394566579CREBBPc.3955C>G (p.Arg1319Gly)
n.3C>G
c.3841C>G (p.Arg1281Gly)
c.2590C>G (p.Arg864Gly)
n.419C>G
c.261C>G
n.37C>G
c.3910C>G (p.Arg1304Gly)
c.3538C>G (p.Arg1180Gly)
c.3901C>G (p.Arg1301Gly)
c.3202C>G (p.Arg1068Gly)
c.3949C>G (p.Arg1317Gly)
16g.3744921G=CA2202929918CREBBPc.3955C= (p.Arg1319=)
n.3C=
c.3841C= (p.Arg1281=)
c.2590C= (p.Arg864=)
n.419C=
c.261C=
n.37C=
c.3910C= (p.Arg1304=)
c.3538C= (p.Arg1180=)
c.3901C= (p.Arg1301=)
c.3202C= (p.Arg1068=)
c.3949C= (p.Arg1317=)
16g.3744921G>TCA493281284CREBBPc.3955C>A (p.Arg1319=)
n.3C>A
c.3841C>A (p.Arg1281=)
c.2590C>A (p.Arg864=)
n.419C>A
c.261C>A
n.37C>A
c.3910C>A (p.Arg1304=)
c.3538C>A (p.Arg1180=)
c.3901C>A (p.Arg1301=)
c.3202C>A (p.Arg1068=)
c.3949C>A (p.Arg1317=)
16g.3744922A>CCA493281287CREBBPc.3954T>G (p.Pro1318=)
n.2T>G
c.3840T>G (p.Pro1280=)
c.2589T>G (p.Pro863=)
n.418T>G
c.260T>G
n.36T>G
c.3909T>G (p.Pro1303=)
c.3537T>G (p.Pro1179=)
c.3900T>G (p.Pro1300=)
c.3201T>G (p.Pro1067=)
c.3948T>G (p.Pro1316=)
16g.3744922A>GCA493281286CREBBPc.3954T>C (p.Pro1318=)
n.2T>C
c.3840T>C (p.Pro1280=)
c.2589T>C (p.Pro863=)
n.418T>C
c.260T>C
n.36T>C
c.3909T>C (p.Pro1303=)
c.3537T>C (p.Pro1179=)
c.3900T>C (p.Pro1300=)
c.3201T>C (p.Pro1067=)
c.3948T>C (p.Pro1316=)
16g.3744922A>TCA493281285CREBBPc.3954T>A (p.Pro1318=)
n.2T>A
c.3840T>A (p.Pro1280=)
c.2589T>A (p.Pro863=)
n.418T>A
c.260T>A
n.36T>A
c.3909T>A (p.Pro1303=)
c.3537T>A (p.Pro1179=)
c.3900T>A (p.Pro1300=)
c.3201T>A (p.Pro1067=)
c.3948T>A (p.Pro1316=)
16g.3744923G>ACA394566581CREBBPc.3953C>T (p.Pro1318Leu)
n.1C>T
c.3839C>T (p.Pro1280Leu)
c.2588C>T (p.Pro863Leu)
n.417C>T
c.259C>T
n.35C>T
c.3908C>T (p.Pro1303Leu)
c.3536C>T (p.Pro1179Leu)
c.3899C>T (p.Pro1300Leu)
c.3200C>T (p.Pro1067Leu)
c.3947C>T (p.Pro1316Leu)
16g.3744923G>CCA394566583CREBBPc.3953C>G (p.Pro1318Arg)
n.1C>G
c.3839C>G (p.Pro1280Arg)
c.2588C>G (p.Pro863Arg)
n.417C>G
c.259C>G
n.35C>G
c.3908C>G (p.Pro1303Arg)
c.3536C>G (p.Pro1179Arg)
c.3899C>G (p.Pro1300Arg)
c.3200C>G (p.Pro1067Arg)
c.3947C>G (p.Pro1316Arg)
16g.3744923G>TCA394566585CREBBPc.3953C>A (p.Pro1318His)
n.1C>A
c.3839C>A (p.Pro1280His)
c.2588C>A (p.Pro863His)
n.417C>A
c.259C>A
n.35C>A
c.3908C>A (p.Pro1303His)
c.3536C>A (p.Pro1179His)
c.3899C>A (p.Pro1300His)
c.3200C>A (p.Pro1067His)
c.3947C>A (p.Pro1316His)
16g.3744924G>ACA394566589CREBBPc.3952C>T (p.Pro1318Ser)
c.3838C>T (p.Pro1280Ser)
c.2587C>T (p.Pro863Ser)
n.416C>T
c.258C>T
n.34C>T
c.3907C>T (p.Pro1303Ser)
c.3535C>T (p.Pro1179Ser)
c.3898C>T (p.Pro1300Ser)
c.3199C>T (p.Pro1067Ser)
c.3946C>T (p.Pro1316Ser)
 gnomAD v4
16g.3744924G>CCA394566591CREBBPc.3952C>G (p.Pro1318Ala)
c.3838C>G (p.Pro1280Ala)
c.2587C>G (p.Pro863Ala)
n.416C>G
c.258C>G
n.34C>G
c.3907C>G (p.Pro1303Ala)
c.3535C>G (p.Pro1179Ala)
c.3898C>G (p.Pro1300Ala)
c.3199C>G (p.Pro1067Ala)
c.3946C>G (p.Pro1316Ala)
 gnomAD v4
16g.3744924G>TCA394566587CREBBPc.3952C>A (p.Pro1318Thr)
c.3838C>A (p.Pro1280Thr)
c.2587C>A (p.Pro863Thr)
n.416C>A
c.258C>A
n.34C>A
c.3907C>A (p.Pro1303Thr)
c.3535C>A (p.Pro1179Thr)
c.3898C>A (p.Pro1300Thr)
c.3199C>A (p.Pro1067Thr)
c.3946C>A (p.Pro1316Thr)
16g.3744925T>ACA394566594CREBBPc.3951A>T (p.Arg1317Ser)
c.3837A>T (p.Arg1279Ser)
c.2586A>T (p.Arg862Ser)
n.415A>T
c.257A>T
n.33A>T
c.3906A>T (p.Arg1302Ser)
c.3534A>T (p.Arg1178Ser)
c.3897A>T (p.Arg1299Ser)
c.3198A>T (p.Arg1066Ser)
c.3945A>T (p.Arg1315Ser)
16g.3744925T>CCA493281290CREBBPc.3951A>G (p.Arg1317=)
c.3837A>G (p.Arg1279=)
c.2586A>G (p.Arg862=)
n.415A>G
c.257A>G
n.33A>G
c.3906A>G (p.Arg1302=)
c.3534A>G (p.Arg1178=)
c.3897A>G (p.Arg1299=)
c.3198A>G (p.Arg1066=)
c.3945A>G (p.Arg1315=)
16g.3744925T>GCA394566592CREBBPc.3951A>C (p.Arg1317Ser)
c.3837A>C (p.Arg1279Ser)
c.2586A>C (p.Arg862Ser)
n.415A>C
c.257A>C
n.33A>C
c.3906A>C (p.Arg1302Ser)
c.3534A>C (p.Arg1178Ser)
c.3897A>C (p.Arg1299Ser)
c.3198A>C (p.Arg1066Ser)
c.3945A>C (p.Arg1315Ser)
16g.3744926C>ACA394566596CREBBPc.3950G>T (p.Arg1317Ile)
c.3836G>T (p.Arg1279Ile)
c.2585G>T (p.Arg862Ile)
n.414G>T
c.256G>T
n.32G>T
c.3905G>T (p.Arg1302Ile)
c.3533G>T (p.Arg1178Ile)
c.3896G>T (p.Arg1299Ile)
c.3197G>T (p.Arg1066Ile)
c.3944G>T (p.Arg1315Ile)
16g.3744926C>GCA394566598CREBBPc.3950G>C (p.Arg1317Thr)
c.3836G>C (p.Arg1279Thr)
c.2585G>C (p.Arg862Thr)
n.414G>C
c.256G>C
n.32G>C
c.3905G>C (p.Arg1302Thr)
c.3533G>C (p.Arg1178Thr)
c.3896G>C (p.Arg1299Thr)
c.3197G>C (p.Arg1066Thr)
c.3944G>C (p.Arg1315Thr)
16g.3744926C>TCA394566600CREBBPc.3950G>A (p.Arg1317Lys)
c.3836G>A (p.Arg1279Lys)
c.2585G>A (p.Arg862Lys)
n.414G>A
c.256G>A
n.32G>A
c.3905G>A (p.Arg1302Lys)
c.3533G>A (p.Arg1178Lys)
c.3896G>A (p.Arg1299Lys)
c.3197G>A (p.Arg1066Lys)
c.3944G>A (p.Arg1315Lys)
16g.3744927T>ACA394566602CREBBPc.3949A>T (p.Arg1317Ter)
c.3835A>T (p.Arg1279Ter)
c.2584A>T (p.Arg862Ter)
n.413A>T
c.255A>T
n.31A>T
c.3904A>T (p.Arg1302Ter)
c.3532A>T (p.Arg1178Ter)
c.3895A>T (p.Arg1299Ter)
c.3196A>T (p.Arg1066Ter)
c.3943A>T (p.Arg1315Ter)
16g.3744927T>CCA394566604CREBBPc.3949A>G (p.Arg1317Gly)
c.3835A>G (p.Arg1279Gly)
c.2584A>G (p.Arg862Gly)
n.413A>G
c.255A>G
n.31A>G
c.3904A>G (p.Arg1302Gly)
c.3532A>G (p.Arg1178Gly)
c.3895A>G (p.Arg1299Gly)
c.3196A>G (p.Arg1066Gly)
c.3943A>G (p.Arg1315Gly)
16g.3744927T>GCA493281291CREBBPc.3949A>C (p.Arg1317=)
c.3835A>C (p.Arg1279=)
c.2584A>C (p.Arg862=)
n.413A>C
c.255A>C
n.31A>C
c.3904A>C (p.Arg1302=)
c.3532A>C (p.Arg1178=)
c.3895A>C (p.Arg1299=)
c.3196A>C (p.Arg1066=)
c.3943A>C (p.Arg1315=)
16g.3744928G>ACA493281292CREBBPc.3948C>T (p.Gly1316=)
c.3834C>T (p.Gly1278=)
c.2583C>T (p.Gly861=)
n.412C>T
c.254C>T
n.30C>T
c.3903C>T (p.Gly1301=)
c.3531C>T (p.Gly1177=)
c.3894C>T (p.Gly1298=)
c.3195C>T (p.Gly1065=)
c.3942C>T (p.Gly1314=)
 dbSNP gnomAD v4
16g.3744928G>CCA493281293CREBBPc.3948C>G (p.Gly1316=)
c.3834C>G (p.Gly1278=)
c.2583C>G (p.Gly861=)
n.412C>G
c.254C>G
n.30C>G
c.3903C>G (p.Gly1301=)
c.3531C>G (p.Gly1177=)
c.3894C>G (p.Gly1298=)
c.3195C>G (p.Gly1065=)
c.3942C>G (p.Gly1314=)
16g.3744928G>TCA493281294CREBBPc.3948C>A (p.Gly1316=)
c.3834C>A (p.Gly1278=)
c.2583C>A (p.Gly861=)
n.412C>A
c.254C>A
n.30C>A
c.3903C>A (p.Gly1301=)
c.3531C>A (p.Gly1177=)
c.3894C>A (p.Gly1298=)
c.3195C>A (p.Gly1065=)
c.3942C>A (p.Gly1314=)
16g.3744929C>ACA394566606CREBBPc.3947G>T (p.Gly1316Val)
c.3833G>T (p.Gly1278Val)
c.2582G>T (p.Gly861Val)
n.411G>T
c.253G>T
n.29G>T
c.3902G>T (p.Gly1301Val)
c.3530G>T (p.Gly1177Val)
c.3893G>T (p.Gly1298Val)
c.3194G>T (p.Gly1065Val)
c.3941G>T (p.Gly1314Val)
16g.3744929C>GCA394566608CREBBPc.3947G>C (p.Gly1316Ala)
c.3833G>C (p.Gly1278Ala)
c.2582G>C (p.Gly861Ala)
n.411G>C
c.253G>C
n.29G>C
c.3902G>C (p.Gly1301Ala)
c.3530G>C (p.Gly1177Ala)
c.3893G>C (p.Gly1298Ala)
c.3194G>C (p.Gly1065Ala)
c.3941G>C (p.Gly1314Ala)
16g.3744929C>TCA394566610CREBBPc.3947G>A (p.Gly1316Asp)
c.3833G>A (p.Gly1278Asp)
c.2582G>A (p.Gly861Asp)
n.411G>A
c.253G>A
n.29G>A
c.3902G>A (p.Gly1301Asp)
c.3530G>A (p.Gly1177Asp)
c.3893G>A (p.Gly1298Asp)
c.3194G>A (p.Gly1065Asp)
c.3941G>A (p.Gly1314Asp)
 dbSNP
16g.3744930C>ACA394566613CREBBPc.3946G>T (p.Gly1316Cys)
c.3832G>T (p.Gly1278Cys)
c.2581G>T (p.Gly861Cys)
n.410G>T
c.252G>T
n.28G>T
c.3901G>T (p.Gly1301Cys)
c.3529G>T (p.Gly1177Cys)
c.3892G>T (p.Gly1298Cys)
c.3193G>T (p.Gly1065Cys)
c.3940G>T (p.Gly1314Cys)
 dbSNP gnomAD v4
16g.3744930C=CA2202929919CREBBPc.3946G= (p.Gly1316=)
c.3832G= (p.Gly1278=)
c.2581G= (p.Gly861=)
n.410G=
c.252G=
n.28G=
c.3901G= (p.Gly1301=)
c.3529G= (p.Gly1177=)
c.3892G= (p.Gly1298=)
c.3193G= (p.Gly1065=)
c.3940G= (p.Gly1314=)
16g.3744930C>GCA394566614CREBBPc.3946G>C (p.Gly1316Arg)
c.3832G>C (p.Gly1278Arg)
c.2581G>C (p.Gly861Arg)
n.410G>C
c.252G>C
n.28G>C
c.3901G>C (p.Gly1301Arg)
c.3529G>C (p.Gly1177Arg)
c.3892G>C (p.Gly1298Arg)
c.3193G>C (p.Gly1065Arg)
c.3940G>C (p.Gly1314Arg)
16g.3744930C>TCA7869655CREBBPc.3946G>A (p.Gly1316Ser)
c.3832G>A (p.Gly1278Ser)
c.2581G>A (p.Gly861Ser)
n.410G>A
c.252G>A
n.28G>A
c.3901G>A (p.Gly1301Ser)
c.3529G>A (p.Gly1177Ser)
c.3892G>A (p.Gly1298Ser)
c.3193G>A (p.Gly1065Ser)
c.3940G>A (p.Gly1314Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3744931A>CCA493281296CREBBPc.3945T>G (p.Thr1315=)
c.3831T>G (p.Thr1277=)
c.2580T>G (p.Thr860=)
n.409T>G
c.251T>G
n.27T>G
c.3900T>G (p.Thr1300=)
c.3528T>G (p.Thr1176=)
c.3891T>G (p.Thr1297=)
c.3192T>G (p.Thr1064=)
c.3939T>G (p.Thr1313=)
16g.3744931A>GCA493281297CREBBPc.3945T>C (p.Thr1315=)
c.3831T>C (p.Thr1277=)
c.2580T>C (p.Thr860=)
n.409T>C
c.251T>C
n.27T>C
c.3900T>C (p.Thr1300=)
c.3528T>C (p.Thr1176=)
c.3891T>C (p.Thr1297=)
c.3192T>C (p.Thr1064=)
c.3939T>C (p.Thr1313=)
 gnomAD v4
16g.3744931A>TCA493281298CREBBPc.3945T>A (p.Thr1315=)
c.3831T>A (p.Thr1277=)
c.2580T>A (p.Thr860=)
n.409T>A
c.251T>A
n.27T>A
c.3900T>A (p.Thr1300=)
c.3528T>A (p.Thr1176=)
c.3891T>A (p.Thr1297=)
c.3192T>A (p.Thr1064=)
c.3939T>A (p.Thr1313=)
16g.3744932G>ACA394566620CREBBPc.3944C>T (p.Thr1315Ile)
c.3830C>T (p.Thr1277Ile)
c.2579C>T (p.Thr860Ile)
n.408C>T
c.250C>T
n.26C>T
c.3899C>T (p.Thr1300Ile)
c.3527C>T (p.Thr1176Ile)
c.3890C>T (p.Thr1297Ile)
c.3191C>T (p.Thr1064Ile)
c.3938C>T (p.Thr1313Ile)
 dbSNP
16g.3744932G>CCA394566622CREBBPc.3944C>G (p.Thr1315Ser)
c.3830C>G (p.Thr1277Ser)
c.2579C>G (p.Thr860Ser)
n.408C>G
c.250C>G
n.26C>G
c.3899C>G (p.Thr1300Ser)
c.3527C>G (p.Thr1176Ser)
c.3890C>G (p.Thr1297Ser)
c.3191C>G (p.Thr1064Ser)
c.3938C>G (p.Thr1313Ser)
16g.3744932G>TCA394566618CREBBPc.3944C>A (p.Thr1315Asn)
c.3830C>A (p.Thr1277Asn)
c.2579C>A (p.Thr860Asn)
n.408C>A
c.250C>A
n.26C>A
c.3899C>A (p.Thr1300Asn)
c.3527C>A (p.Thr1176Asn)
c.3890C>A (p.Thr1297Asn)
c.3191C>A (p.Thr1064Asn)
c.3938C>A (p.Thr1313Asn)
16g.3744933T>ACA394566624CREBBPc.3943A>T (p.Thr1315Ser)
c.3829A>T (p.Thr1277Ser)
c.2578A>T (p.Thr860Ser)
n.407A>T
c.249A>T
n.25A>T
c.3898A>T (p.Thr1300Ser)
c.3526A>T (p.Thr1176Ser)
c.3889A>T (p.Thr1297Ser)
c.3190A>T (p.Thr1064Ser)
c.3937A>T (p.Thr1313Ser)
16g.3744933T>CCA394566626CREBBPc.3943A>G (p.Thr1315Ala)
c.3829A>G (p.Thr1277Ala)
c.2578A>G (p.Thr860Ala)
n.407A>G
c.249A>G
n.25A>G
c.3898A>G (p.Thr1300Ala)
c.3526A>G (p.Thr1176Ala)
c.3889A>G (p.Thr1297Ala)
c.3190A>G (p.Thr1064Ala)
c.3937A>G (p.Thr1313Ala)
16g.3744933T>GCA394566628CREBBPc.3943A>C (p.Thr1315Pro)
c.3829A>C (p.Thr1277Pro)
c.2578A>C (p.Thr860Pro)
n.407A>C
c.249A>C
n.25A>C
c.3898A>C (p.Thr1300Pro)
c.3526A>C (p.Thr1176Pro)
c.3889A>C (p.Thr1297Pro)
c.3190A>C (p.Thr1064Pro)
c.3937A>C (p.Thr1313Pro)
16g.3744934T>ACA394566630CREBBPc.3942A>T (p.Lys1314Asn)
c.3828A>T (p.Lys1276Asn)
c.2577A>T (p.Lys859Asn)
n.406A>T
c.248A>T
n.24A>T
c.3897A>T (p.Lys1299Asn)
c.3525A>T (p.Lys1175Asn)
c.3888A>T (p.Lys1296Asn)
c.3189A>T (p.Lys1063Asn)
c.3936A>T (p.Lys1312Asn)
 dbSNP gnomAD v2 gnomAD v4
16g.3744934T>CCA493281299CREBBPc.3942A>G (p.Lys1314=)
c.3828A>G (p.Lys1276=)
c.2577A>G (p.Lys859=)
n.406A>G
c.248A>G
n.24A>G
c.3897A>G (p.Lys1299=)
c.3525A>G (p.Lys1175=)
c.3888A>G (p.Lys1296=)
c.3189A>G (p.Lys1063=)
c.3936A>G (p.Lys1312=)
16g.3744934T>GCA394566632CREBBPc.3942A>C (p.Lys1314Asn)
c.3828A>C (p.Lys1276Asn)
c.2577A>C (p.Lys859Asn)
n.406A>C
c.248A>C
n.24A>C
c.3897A>C (p.Lys1299Asn)
c.3525A>C (p.Lys1175Asn)
c.3888A>C (p.Lys1296Asn)
c.3189A>C (p.Lys1063Asn)
c.3936A>C (p.Lys1312Asn)
16g.3744934T=CA2202929920CREBBPc.3942A= (p.Lys1314=)
c.3828A= (p.Lys1276=)
c.2577A= (p.Lys859=)
n.406A=
c.248A=
n.24A=
c.3897A= (p.Lys1299=)
c.3525A= (p.Lys1175=)
c.3888A= (p.Lys1296=)
c.3189A= (p.Lys1063=)
c.3936A= (p.Lys1312=)
16g.3744935T>ACA394566638CREBBPc.3941A>T (p.Lys1314Ile)
c.3827A>T (p.Lys1276Ile)
c.2576A>T (p.Lys859Ile)
n.405A>T
c.247A>T
n.23A>T
c.3896A>T (p.Lys1299Ile)
c.3524A>T (p.Lys1175Ile)
c.3887A>T (p.Lys1296Ile)
c.3188A>T (p.Lys1063Ile)
c.3935A>T (p.Lys1312Ile)
16g.3744935T>CCA394566634CREBBPc.3941A>G (p.Lys1314Arg)
c.3827A>G (p.Lys1276Arg)
c.2576A>G (p.Lys859Arg)
n.405A>G
c.247A>G
n.23A>G
c.3896A>G (p.Lys1299Arg)
c.3524A>G (p.Lys1175Arg)
c.3887A>G (p.Lys1296Arg)
c.3188A>G (p.Lys1063Arg)
c.3935A>G (p.Lys1312Arg)
16g.3744935T>GCA394566636CREBBPc.3941A>C (p.Lys1314Thr)
c.3827A>C (p.Lys1276Thr)
c.2576A>C (p.Lys859Thr)
n.405A>C
c.247A>C
n.23A>C
c.3896A>C (p.Lys1299Thr)
c.3524A>C (p.Lys1175Thr)
c.3887A>C (p.Lys1296Thr)
c.3188A>C (p.Lys1063Thr)
c.3935A>C (p.Lys1312Thr)
16g.3744936T>ACA394566640CREBBPc.3940A>T (p.Lys1314Ter)
c.3826A>T (p.Lys1276Ter)
c.2575A>T (p.Lys859Ter)
n.404A>T
c.246A>T
n.22A>T
c.3895A>T (p.Lys1299Ter)
c.3523A>T (p.Lys1175Ter)
c.3886A>T (p.Lys1296Ter)
c.3187A>T (p.Lys1063Ter)
c.3934A>T (p.Lys1312Ter)
 ClinVar dbSNP
16g.3744936T>CCA394566642CREBBPc.3940A>G (p.Lys1314Glu)
c.3826A>G (p.Lys1276Glu)
c.2575A>G (p.Lys859Glu)
n.404A>G
c.246A>G
n.22A>G
c.3895A>G (p.Lys1299Glu)
c.3523A>G (p.Lys1175Glu)
c.3886A>G (p.Lys1296Glu)
c.3187A>G (p.Lys1063Glu)
c.3934A>G (p.Lys1312Glu)
16g.3744936T>GCA394566643CREBBPc.3940A>C (p.Lys1314Gln)
c.3826A>C (p.Lys1276Gln)
c.2575A>C (p.Lys859Gln)
n.404A>C
c.246A>C
n.22A>C
c.3895A>C (p.Lys1299Gln)
c.3523A>C (p.Lys1175Gln)
c.3886A>C (p.Lys1296Gln)
c.3187A>C (p.Lys1063Gln)
c.3934A>C (p.Lys1312Gln)
16g.3744937C>ACA394566644CREBBPc.3939G>T (p.Lys1313Asn)
c.3825G>T (p.Lys1275Asn)
c.2574G>T (p.Lys858Asn)
n.403G>T
c.245G>T
n.21G>T
c.3894G>T (p.Lys1298Asn)
c.3522G>T (p.Lys1174Asn)
c.3885G>T (p.Lys1295Asn)
c.3186G>T (p.Lys1062Asn)
c.3933G>T (p.Lys1311Asn)
16g.3744937C>GCA394566645CREBBPc.3939G>C (p.Lys1313Asn)
c.3825G>C (p.Lys1275Asn)
c.2574G>C (p.Lys858Asn)
n.403G>C
c.245G>C
n.21G>C
c.3894G>C (p.Lys1298Asn)
c.3522G>C (p.Lys1174Asn)
c.3885G>C (p.Lys1295Asn)
c.3186G>C (p.Lys1062Asn)
c.3933G>C (p.Lys1311Asn)
16g.3744937C>TCA493281300CREBBPc.3939G>A (p.Lys1313=)
c.3825G>A (p.Lys1275=)
c.2574G>A (p.Lys858=)
n.403G>A
c.245G>A
n.21G>A
c.3894G>A (p.Lys1298=)
c.3522G>A (p.Lys1174=)
c.3885G>A (p.Lys1295=)
c.3186G>A (p.Lys1062=)
c.3933G>A (p.Lys1311=)
16g.3744938T>ACA394566648CREBBPc.3938A>T (p.Lys1313Met)
c.3824A>T (p.Lys1275Met)
c.2573A>T (p.Lys858Met)
n.402A>T
c.244A>T
n.20A>T
c.3893A>T (p.Lys1298Met)
c.3521A>T (p.Lys1174Met)
c.3884A>T (p.Lys1295Met)
c.3185A>T (p.Lys1062Met)
c.3932A>T (p.Lys1311Met)
16g.3744938T>CCA394566647CREBBPc.3938A>G (p.Lys1313Arg)
c.3824A>G (p.Lys1275Arg)
c.2573A>G (p.Lys858Arg)
n.402A>G
c.244A>G
n.20A>G
c.3893A>G (p.Lys1298Arg)
c.3521A>G (p.Lys1174Arg)
c.3884A>G (p.Lys1295Arg)
c.3185A>G (p.Lys1062Arg)
c.3932A>G (p.Lys1311Arg)
16g.3744938T>GCA394566646CREBBPc.3938A>C (p.Lys1313Thr)
c.3824A>C (p.Lys1275Thr)
c.2573A>C (p.Lys858Thr)
n.402A>C
c.244A>C
n.20A>C
c.3893A>C (p.Lys1298Thr)
c.3521A>C (p.Lys1174Thr)
c.3884A>C (p.Lys1295Thr)
c.3185A>C (p.Lys1062Thr)
c.3932A>C (p.Lys1311Thr)
16g.3744939T>ACA394566649CREBBPc.3937A>T (p.Lys1313Ter)
c.3823A>T (p.Lys1275Ter)
c.2572A>T (p.Lys858Ter)
n.401A>T
c.243A>T
n.19A>T
c.3892A>T (p.Lys1298Ter)
c.3520A>T (p.Lys1174Ter)
c.3883A>T (p.Lys1295Ter)
c.3184A>T (p.Lys1062Ter)
c.3931A>T (p.Lys1311Ter)
16g.3744939T>CCA394566650CREBBPc.3937A>G (p.Lys1313Glu)
c.3823A>G (p.Lys1275Glu)
c.2572A>G (p.Lys858Glu)
n.401A>G
c.243A>G
n.19A>G
c.3892A>G (p.Lys1298Glu)
c.3520A>G (p.Lys1174Glu)
c.3883A>G (p.Lys1295Glu)
c.3184A>G (p.Lys1062Glu)
c.3931A>G (p.Lys1311Glu)
16g.3744939T>GCA394566651CREBBPc.3937A>C (p.Lys1313Gln)
c.3823A>C (p.Lys1275Gln)
c.2572A>C (p.Lys858Gln)
n.401A>C
c.243A>C
n.19A>C
c.3892A>C (p.Lys1298Gln)
c.3520A>C (p.Lys1174Gln)
c.3883A>C (p.Lys1295Gln)
c.3184A>C (p.Lys1062Gln)
c.3931A>C (p.Lys1311Gln)
 COSMIC
16g.3744940C>ACA394566652CREBBPc.3936G>T (p.Leu1312Phe)
c.3822G>T (p.Leu1274Phe)
c.2571G>T (p.Leu857Phe)
n.400G>T
c.242G>T
n.18G>T
c.3891G>T (p.Leu1297Phe)
c.3519G>T (p.Leu1173Phe)
c.3882G>T (p.Leu1294Phe)
c.3183G>T (p.Leu1061Phe)
c.3930G>T (p.Leu1310Phe)
16g.3744940C>GCA394566653CREBBPc.3936G>C (p.Leu1312Phe)
c.3822G>C (p.Leu1274Phe)
c.2571G>C (p.Leu857Phe)
n.400G>C
c.242G>C
n.18G>C
c.3891G>C (p.Leu1297Phe)
c.3519G>C (p.Leu1173Phe)
c.3882G>C (p.Leu1294Phe)
c.3183G>C (p.Leu1061Phe)
c.3930G>C (p.Leu1310Phe)
16g.3744940C>TCA493281301CREBBPc.3936G>A (p.Leu1312=)
c.3822G>A (p.Leu1274=)
c.2571G>A (p.Leu857=)
n.400G>A
c.242G>A
n.18G>A
c.3891G>A (p.Leu1297=)
c.3519G>A (p.Leu1173=)
c.3882G>A (p.Leu1294=)
c.3183G>A (p.Leu1061=)
c.3930G>A (p.Leu1310=)
16g.3744941A>CCA394566654CREBBPc.3935T>G (p.Leu1312Trp)
c.3821T>G (p.Leu1274Trp)
c.2570T>G (p.Leu857Trp)
n.399T>G
c.241T>G
n.17T>G
c.3890T>G (p.Leu1297Trp)
c.3518T>G (p.Leu1173Trp)
c.3881T>G (p.Leu1294Trp)
c.3182T>G (p.Leu1061Trp)
c.3929T>G (p.Leu1310Trp)
16g.3744941A>GCA394566655CREBBPc.3935T>C (p.Leu1312Ser)
c.3821T>C (p.Leu1274Ser)
c.2570T>C (p.Leu857Ser)
n.399T>C
c.241T>C
n.17T>C
c.3890T>C (p.Leu1297Ser)
c.3518T>C (p.Leu1173Ser)
c.3881T>C (p.Leu1294Ser)
c.3182T>C (p.Leu1061Ser)
c.3929T>C (p.Leu1310Ser)
16g.3744941A>TCA394566656CREBBPc.3935T>A (p.Leu1312Ter)
c.3821T>A (p.Leu1274Ter)
c.2570T>A (p.Leu857Ter)
n.399T>A
c.241T>A
n.17T>A
c.3890T>A (p.Leu1297Ter)
c.3518T>A (p.Leu1173Ter)
c.3881T>A (p.Leu1294Ter)
c.3182T>A (p.Leu1061Ter)
c.3929T>A (p.Leu1310Ter)
16g.3744942A=CA2202929921CREBBPc.3934T= (p.Leu1312=)
c.3820T= (p.Leu1274=)
c.2569T= (p.Leu857=)
n.398T=
c.240T=
n.16T=
c.3889T= (p.Leu1297=)
c.3517T= (p.Leu1173=)
c.3880T= (p.Leu1294=)
c.3181T= (p.Leu1061=)
c.3928T= (p.Leu1310=)
16g.3744942A>CCA276987228CREBBPc.3934T>G (p.Leu1312Val)
c.3820T>G (p.Leu1274Val)
c.2569T>G (p.Leu857Val)
n.398T>G
c.240T>G
n.16T>G
c.3889T>G (p.Leu1297Val)
c.3517T>G (p.Leu1173Val)
c.3880T>G (p.Leu1294Val)
c.3181T>G (p.Leu1061Val)
c.3928T>G (p.Leu1310Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3744942A>GCA493281302CREBBPc.3934T>C (p.Leu1312=)
c.3820T>C (p.Leu1274=)
c.2569T>C (p.Leu857=)
n.398T>C
c.240T>C
n.16T>C
c.3889T>C (p.Leu1297=)
c.3517T>C (p.Leu1173=)
c.3880T>C (p.Leu1294=)
c.3181T>C (p.Leu1061=)
c.3928T>C (p.Leu1310=)
16g.3744942A>TCA394566657CREBBPc.3934T>A (p.Leu1312Met)
c.3820T>A (p.Leu1274Met)
c.2569T>A (p.Leu857Met)
n.398T>A
c.240T>A
n.16T>A
c.3889T>A (p.Leu1297Met)
c.3517T>A (p.Leu1173Met)
c.3880T>A (p.Leu1294Met)
c.3181T>A (p.Leu1061Met)
c.3928T>A (p.Leu1310Met)
16g.3744943G>ACA493281303CREBBPc.3933C>T (p.Cys1311=)
c.3819C>T (p.Cys1273=)
c.2568C>T (p.Cys856=)
n.397C>T
c.239C>T
n.15C>T
c.3888C>T (p.Cys1296=)
c.3516C>T (p.Cys1172=)
c.3879C>T (p.Cys1293=)
c.3180C>T (p.Cys1060=)
c.3927C>T (p.Cys1309=)
 gnomAD v4
16g.3744943G>CCA394566658CREBBPc.3933C>G (p.Cys1311Trp)
c.3819C>G (p.Cys1273Trp)
c.2568C>G (p.Cys856Trp)
n.397C>G
c.239C>G
n.15C>G
c.3888C>G (p.Cys1296Trp)
c.3516C>G (p.Cys1172Trp)
c.3879C>G (p.Cys1293Trp)
c.3180C>G (p.Cys1060Trp)
c.3927C>G (p.Cys1309Trp)
16g.3744943G>TCA394566659CREBBPc.3933C>A (p.Cys1311Ter)
c.3819C>A (p.Cys1273Ter)
c.2568C>A (p.Cys856Ter)
n.397C>A
c.239C>A
n.15C>A
c.3888C>A (p.Cys1296Ter)
c.3516C>A (p.Cys1172Ter)
c.3879C>A (p.Cys1293Ter)
c.3180C>A (p.Cys1060Ter)
c.3927C>A (p.Cys1309Ter)
16g.3744944C>ACA394566660CREBBPc.3932G>T (p.Cys1311Phe)
c.3818G>T (p.Cys1273Phe)
c.2567G>T (p.Cys856Phe)
n.396G>T
c.238G>T
n.14G>T
c.3887G>T (p.Cys1296Phe)
c.3515G>T (p.Cys1172Phe)
c.3878G>T (p.Cys1293Phe)
c.3179G>T (p.Cys1060Phe)
c.3926G>T (p.Cys1309Phe)
16g.3744944C>GCA394566661CREBBPc.3932G>C (p.Cys1311Ser)
c.3818G>C (p.Cys1273Ser)
c.2567G>C (p.Cys856Ser)
n.396G>C
c.238G>C
n.14G>C
c.3887G>C (p.Cys1296Ser)
c.3515G>C (p.Cys1172Ser)
c.3878G>C (p.Cys1293Ser)
c.3179G>C (p.Cys1060Ser)
c.3926G>C (p.Cys1309Ser)
16g.3744944C>TCA394566662CREBBPc.3932G>A (p.Cys1311Tyr)
c.3818G>A (p.Cys1273Tyr)
c.2567G>A (p.Cys856Tyr)
n.396G>A
c.238G>A
n.14G>A
c.3887G>A (p.Cys1296Tyr)
c.3515G>A (p.Cys1172Tyr)
c.3878G>A (p.Cys1293Tyr)
c.3179G>A (p.Cys1060Tyr)
c.3926G>A (p.Cys1309Tyr)
 dbSNP
16g.3744945A>CCA394566663CREBBPc.3931T>G (p.Cys1311Gly)
c.3817T>G (p.Cys1273Gly)
c.2566T>G (p.Cys856Gly)
n.395T>G
c.237T>G
n.13T>G
c.3886T>G (p.Cys1296Gly)
c.3514T>G (p.Cys1172Gly)
c.3877T>G (p.Cys1293Gly)
c.3178T>G (p.Cys1060Gly)
c.3925T>G (p.Cys1309Gly)
16g.3744945A>GCA394566665CREBBPc.3931T>C (p.Cys1311Arg)
c.3817T>C (p.Cys1273Arg)
c.2566T>C (p.Cys856Arg)
n.395T>C
c.237T>C
n.13T>C
c.3886T>C (p.Cys1296Arg)
c.3514T>C (p.Cys1172Arg)
c.3877T>C (p.Cys1293Arg)
c.3178T>C (p.Cys1060Arg)
c.3925T>C (p.Cys1309Arg)
16g.3744945A>TCA394566664CREBBPc.3931T>A (p.Cys1311Ser)
c.3817T>A (p.Cys1273Ser)
c.2566T>A (p.Cys856Ser)
n.395T>A
c.237T>A
n.13T>A
c.3886T>A (p.Cys1296Ser)
c.3514T>A (p.Cys1172Ser)
c.3877T>A (p.Cys1293Ser)
c.3178T>A (p.Cys1060Ser)
c.3925T>A (p.Cys1309Ser)
16g.3744946G>ACA7869656CREBBPc.3930C>T (p.Asn1310=)
c.3816C>T (p.Asn1272=)
c.2565C>T (p.Asn855=)
n.394C>T
c.236C>T
n.12C>T
c.3885C>T (p.Asn1295=)
c.3513C>T (p.Asn1171=)
c.3876C>T (p.Asn1292=)
c.3177C>T (p.Asn1059=)
c.3924C>T (p.Asn1308=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3744946G>CCA7869657CREBBPc.3930C>G (p.Asn1310Lys)
c.3816C>G (p.Asn1272Lys)
c.2565C>G (p.Asn855Lys)
n.394C>G
c.236C>G
n.12C>G
c.3885C>G (p.Asn1295Lys)
c.3513C>G (p.Asn1171Lys)
c.3876C>G (p.Asn1292Lys)
c.3177C>G (p.Asn1059Lys)
c.3924C>G (p.Asn1308Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3744946G=CA2202929923CREBBPc.3930C= (p.Asn1310=)
c.3816C= (p.Asn1272=)
c.2565C= (p.Asn855=)
n.394C=
c.236C=
n.12C=
c.3885C= (p.Asn1295=)
c.3513C= (p.Asn1171=)
c.3876C= (p.Asn1292=)
c.3177C= (p.Asn1059=)
c.3924C= (p.Asn1308=)
16g.3744946G>TCA394566666CREBBPc.3930C>A (p.Asn1310Lys)
c.3816C>A (p.Asn1272Lys)
c.2565C>A (p.Asn855Lys)
n.394C>A
c.236C>A
n.12C>A
c.3885C>A (p.Asn1295Lys)
c.3513C>A (p.Asn1171Lys)
c.3876C>A (p.Asn1292Lys)
c.3177C>A (p.Asn1059Lys)
c.3924C>A (p.Asn1308Lys)
16g.3744947T>ACA394566667CREBBPc.3929A>T (p.Asn1310Ile)
c.3815A>T (p.Asn1272Ile)
c.2564A>T (p.Asn855Ile)
n.393A>T
c.235A>T
n.11A>T
c.3884A>T (p.Asn1295Ile)
c.3512A>T (p.Asn1171Ile)
c.3875A>T (p.Asn1292Ile)
c.3176A>T (p.Asn1059Ile)
c.3923A>T (p.Asn1308Ile)
16g.3744947T>CCA7869658CREBBPc.3929A>G (p.Asn1310Ser)
c.3815A>G (p.Asn1272Ser)
c.2564A>G (p.Asn855Ser)
n.393A>G
c.235A>G
n.11A>G
c.3884A>G (p.Asn1295Ser)
c.3512A>G (p.Asn1171Ser)
c.3875A>G (p.Asn1292Ser)
c.3176A>G (p.Asn1059Ser)
c.3923A>G (p.Asn1308Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3744947T>GCA394566668CREBBPc.3929A>C (p.Asn1310Thr)
c.3815A>C (p.Asn1272Thr)
c.2564A>C (p.Asn855Thr)
n.393A>C
c.235A>C
n.11A>C
c.3884A>C (p.Asn1295Thr)
c.3512A>C (p.Asn1171Thr)
c.3875A>C (p.Asn1292Thr)
c.3176A>C (p.Asn1059Thr)
c.3923A>C (p.Asn1308Thr)
16g.3744947T=CA2202929925CREBBPc.3929A= (p.Asn1310=)
c.3815A= (p.Asn1272=)
c.2564A= (p.Asn855=)
n.393A=
c.235A=
n.11A=
c.3884A= (p.Asn1295=)
c.3512A= (p.Asn1171=)
c.3875A= (p.Asn1292=)
c.3176A= (p.Asn1059=)
c.3923A= (p.Asn1308=)
16g.3744948T>ACA394566669CREBBPc.3928A>T (p.Asn1310Tyr)
c.3814A>T (p.Asn1272Tyr)
c.2563A>T (p.Asn855Tyr)
n.392A>T
c.234A>T
n.10A>T
c.3883A>T (p.Asn1295Tyr)
c.3511A>T (p.Asn1171Tyr)
c.3874A>T (p.Asn1292Tyr)
c.3175A>T (p.Asn1059Tyr)
c.3922A>T (p.Asn1308Tyr)
16g.3744948T>CCA394566670CREBBPc.3928A>G (p.Asn1310Asp)
c.3814A>G (p.Asn1272Asp)
c.2563A>G (p.Asn855Asp)
n.392A>G
c.234A>G
n.10A>G
c.3883A>G (p.Asn1295Asp)
c.3511A>G (p.Asn1171Asp)
c.3874A>G (p.Asn1292Asp)
c.3175A>G (p.Asn1059Asp)
c.3922A>G (p.Asn1308Asp)
16g.3744948T>GCA394566671CREBBPc.3928A>C (p.Asn1310His)
c.3814A>C (p.Asn1272His)
c.2563A>C (p.Asn855His)
n.392A>C
c.234A>C
n.10A>C
c.3883A>C (p.Asn1295His)
c.3511A>C (p.Asn1171His)
c.3874A>C (p.Asn1292His)
c.3175A>C (p.Asn1059His)
c.3922A>C (p.Asn1308His)
16g.3744949G>ACA493281304CREBBPc.3927C>T (p.Asp1309=)
c.3813C>T (p.Asp1271=)
c.2562C>T (p.Asp854=)
n.391C>T
c.233C>T
n.9C>T
c.3882C>T (p.Asp1294=)
c.3510C>T (p.Asp1170=)
c.3873C>T (p.Asp1291=)
c.3174C>T (p.Asp1058=)
c.3921C>T (p.Asp1307=)
16g.3744949G>CCA394566672CREBBPc.3927C>G (p.Asp1309Glu)
c.3813C>G (p.Asp1271Glu)
c.2562C>G (p.Asp854Glu)
n.391C>G
c.233C>G
n.9C>G
c.3882C>G (p.Asp1294Glu)
c.3510C>G (p.Asp1170Glu)
c.3873C>G (p.Asp1291Glu)
c.3174C>G (p.Asp1058Glu)
c.3921C>G (p.Asp1307Glu)
 ClinVar dbSNP gnomAD v4
16g.3744949G>TCA394566673CREBBPc.3927C>A (p.Asp1309Glu)
c.3813C>A (p.Asp1271Glu)
c.2562C>A (p.Asp854Glu)
n.391C>A
c.233C>A
n.9C>A
c.3882C>A (p.Asp1294Glu)
c.3510C>A (p.Asp1170Glu)
c.3873C>A (p.Asp1291Glu)
c.3174C>A (p.Asp1058Glu)
c.3921C>A (p.Asp1307Glu)
16g.3744950T>ACA394566676CREBBPc.3926A>T (p.Asp1309Val)
c.3812A>T (p.Asp1271Val)
c.2561A>T (p.Asp854Val)
n.390A>T
c.232A>T
n.8A>T
c.3881A>T (p.Asp1294Val)
c.3509A>T (p.Asp1170Val)
c.3872A>T (p.Asp1291Val)
c.3173A>T (p.Asp1058Val)
c.3920A>T (p.Asp1307Val)
16g.3744950T>CCA394566675CREBBPc.3926A>G (p.Asp1309Gly)
c.3812A>G (p.Asp1271Gly)
c.2561A>G (p.Asp854Gly)
n.390A>G
c.232A>G
n.8A>G
c.3881A>G (p.Asp1294Gly)
c.3509A>G (p.Asp1170Gly)
c.3872A>G (p.Asp1291Gly)
c.3173A>G (p.Asp1058Gly)
c.3920A>G (p.Asp1307Gly)
16g.3744950T>GCA394566674CREBBPc.3926A>C (p.Asp1309Ala)
c.3812A>C (p.Asp1271Ala)
c.2561A>C (p.Asp854Ala)
n.390A>C
c.232A>C
n.8A>C
c.3881A>C (p.Asp1294Ala)
c.3509A>C (p.Asp1170Ala)
c.3872A>C (p.Asp1291Ala)
c.3173A>C (p.Asp1058Ala)
c.3920A>C (p.Asp1307Ala)
16g.3744951C>ACA394566677CREBBPc.3925G>T (p.Asp1309Tyr)
c.3811G>T (p.Asp1271Tyr)
c.2560G>T (p.Asp854Tyr)
n.389G>T
c.231G>T
n.7G>T
c.3880G>T (p.Asp1294Tyr)
c.3508G>T (p.Asp1170Tyr)
c.3871G>T (p.Asp1291Tyr)
c.3172G>T (p.Asp1058Tyr)
c.3919G>T (p.Asp1307Tyr)
16g.3744951C=CA2202929928CREBBPc.3925G= (p.Asp1309=)
c.3811G= (p.Asp1271=)
c.2560G= (p.Asp854=)
n.389G=
c.231G=
n.7G=
c.3880G= (p.Asp1294=)
c.3508G= (p.Asp1170=)
c.3871G= (p.Asp1291=)
c.3172G= (p.Asp1058=)
c.3919G= (p.Asp1307=)
16g.3744951C>GCA394566678CREBBPc.3925G>C (p.Asp1309His)
c.3811G>C (p.Asp1271His)
c.2560G>C (p.Asp854His)
n.389G>C
c.231G>C
n.7G>C
c.3880G>C (p.Asp1294His)
c.3508G>C (p.Asp1170His)
c.3871G>C (p.Asp1291His)
c.3172G>C (p.Asp1058His)
c.3919G>C (p.Asp1307His)
16g.3744951C>TCA7869659CREBBPc.3925G>A (p.Asp1309Asn)
c.3811G>A (p.Asp1271Asn)
c.2560G>A (p.Asp854Asn)
n.389G>A
c.231G>A
n.7G>A
c.3880G>A (p.Asp1294Asn)
c.3508G>A (p.Asp1170Asn)
c.3871G>A (p.Asp1291Asn)
c.3172G>A (p.Asp1058Asn)
c.3919G>A (p.Asp1307Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3744952G>ACA7869660CREBBPc.3924C>T (p.Cys1308=)
c.3810C>T (p.Cys1270=)
c.2559C>T (p.Cys853=)
n.388C>T
c.230C>T
n.6C>T
c.3879C>T (p.Cys1293=)
c.3507C>T (p.Cys1169=)
c.3870C>T (p.Cys1290=)
c.3171C>T (p.Cys1057=)
c.3918C>T (p.Cys1306=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3744952G>CCA394566680CREBBPc.3924C>G (p.Cys1308Trp)
c.3810C>G (p.Cys1270Trp)
c.2559C>G (p.Cys853Trp)
n.388C>G
c.230C>G
n.6C>G
c.3879C>G (p.Cys1293Trp)
c.3507C>G (p.Cys1169Trp)
c.3870C>G (p.Cys1290Trp)
c.3171C>G (p.Cys1057Trp)
c.3918C>G (p.Cys1306Trp)
16g.3744952G=CA2202929930CREBBPc.3924C= (p.Cys1308=)
c.3810C= (p.Cys1270=)
c.2559C= (p.Cys853=)
n.388C=
c.230C=
n.6C=
c.3879C= (p.Cys1293=)
c.3507C= (p.Cys1169=)
c.3870C= (p.Cys1290=)
c.3171C= (p.Cys1057=)
c.3918C= (p.Cys1306=)
16g.3744952G>TCA394566679CREBBPc.3924C>A (p.Cys1308Ter)
c.3810C>A (p.Cys1270Ter)
c.2559C>A (p.Cys853Ter)
n.388C>A
c.230C>A
n.6C>A
c.3879C>A (p.Cys1293Ter)
c.3507C>A (p.Cys1169Ter)
c.3870C>A (p.Cys1290Ter)
c.3171C>A (p.Cys1057Ter)
c.3918C>A (p.Cys1306Ter)
16g.3744953C>ACA394566681CREBBPc.3923G>T (p.Cys1308Phe)
c.3809G>T (p.Cys1270Phe)
c.2558G>T (p.Cys853Phe)
n.387G>T
c.229G>T
n.5G>T
c.3878G>T (p.Cys1293Phe)
c.3506G>T (p.Cys1169Phe)
c.3869G>T (p.Cys1290Phe)
c.3170G>T (p.Cys1057Phe)
c.3917G>T (p.Cys1306Phe)
16g.3744953C=CA2202929931CREBBPc.3923G= (p.Cys1308=)
c.3809G= (p.Cys1270=)
c.2558G= (p.Cys853=)
n.387G=
c.229G=
n.5G=
c.3878G= (p.Cys1293=)
c.3506G= (p.Cys1169=)
c.3869G= (p.Cys1290=)
c.3170G= (p.Cys1057=)
c.3917G= (p.Cys1306=)
16g.3744953C>GCA394566683CREBBPc.3923G>C (p.Cys1308Ser)
c.3809G>C (p.Cys1270Ser)
c.2558G>C (p.Cys853Ser)
n.387G>C
c.229G>C
n.5G>C
c.3878G>C (p.Cys1293Ser)
c.3506G>C (p.Cys1169Ser)
c.3869G>C (p.Cys1290Ser)
c.3170G>C (p.Cys1057Ser)
c.3917G>C (p.Cys1306Ser)
16g.3744953C>TCA394566682CREBBPc.3923G>A (p.Cys1308Tyr)
c.3809G>A (p.Cys1270Tyr)
c.2558G>A (p.Cys853Tyr)
n.387G>A
c.229G>A
n.5G>A
c.3878G>A (p.Cys1293Tyr)
c.3506G>A (p.Cys1169Tyr)
c.3869G>A (p.Cys1290Tyr)
c.3170G>A (p.Cys1057Tyr)
c.3917G>A (p.Cys1306Tyr)
 dbSNP gnomAD v3 gnomAD v4
16g.3744954A>CCA394566684CREBBPc.3922T>G (p.Cys1308Gly)
c.3808T>G (p.Cys1270Gly)
c.2557T>G (p.Cys853Gly)
n.386T>G
c.228T>G
n.4T>G
c.3877T>G (p.Cys1293Gly)
c.3505T>G (p.Cys1169Gly)
c.3868T>G (p.Cys1290Gly)
c.3169T>G (p.Cys1057Gly)
c.3916T>G (p.Cys1306Gly)
16g.3744954A>GCA394566685CREBBPc.3922T>C (p.Cys1308Arg)
c.3808T>C (p.Cys1270Arg)
c.2557T>C (p.Cys853Arg)
n.386T>C
c.228T>C
n.4T>C
c.3877T>C (p.Cys1293Arg)
c.3505T>C (p.Cys1169Arg)
c.3868T>C (p.Cys1290Arg)
c.3169T>C (p.Cys1057Arg)
c.3916T>C (p.Cys1306Arg)
16g.3744954A>TCA394566686CREBBPc.3922T>A (p.Cys1308Ser)
c.3808T>A (p.Cys1270Ser)
c.2557T>A (p.Cys853Ser)
n.386T>A
c.228T>A
n.4T>A
c.3877T>A (p.Cys1293Ser)
c.3505T>A (p.Cys1169Ser)
c.3868T>A (p.Cys1290Ser)
c.3169T>A (p.Cys1057Ser)
c.3916T>A (p.Cys1306Ser)
16g.3744955C>ACA493281305CREBBPc.3921G>T (p.Val1307=)
c.3807G>T (p.Val1269=)
c.2556G>T (p.Val852=)
n.385G>T
c.227G>T
n.3G>T
c.3876G>T (p.Val1292=)
c.3504G>T (p.Val1168=)
c.3867G>T (p.Val1289=)
c.3168G>T (p.Val1056=)
c.3915G>T (p.Val1305=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3744955C=CA2202929933CREBBPc.3921G= (p.Val1307=)
c.3807G= (p.Val1269=)
c.2556G= (p.Val852=)
n.385G=
c.227G=
n.3G=
c.3876G= (p.Val1292=)
c.3504G= (p.Val1168=)
c.3867G= (p.Val1289=)
c.3168G= (p.Val1056=)
c.3915G= (p.Val1305=)
16g.3744955C>GCA493281306CREBBPc.3921G>C (p.Val1307=)
c.3807G>C (p.Val1269=)
c.2556G>C (p.Val852=)
n.385G>C
c.227G>C
n.3G>C
c.3876G>C (p.Val1292=)
c.3504G>C (p.Val1168=)
c.3867G>C (p.Val1289=)
c.3168G>C (p.Val1056=)
c.3915G>C (p.Val1305=)
16g.3744955C>TCA493281307CREBBPc.3921G>A (p.Val1307=)
c.3807G>A (p.Val1269=)
c.2556G>A (p.Val852=)
n.385G>A
c.227G>A
n.3G>A
c.3876G>A (p.Val1292=)
c.3504G>A (p.Val1168=)
c.3867G>A (p.Val1289=)
c.3168G>A (p.Val1056=)
c.3915G>A (p.Val1305=)
 dbSNP
16g.3744956A>CCA394566687CREBBPc.3920T>G (p.Val1307Gly)
c.3806T>G (p.Val1269Gly)
c.2555T>G (p.Val852Gly)
n.384T>G
c.226T>G
n.2T>G
c.3875T>G (p.Val1292Gly)
c.3503T>G (p.Val1168Gly)
c.3866T>G (p.Val1289Gly)
c.3167T>G (p.Val1056Gly)
c.3914T>G (p.Val1305Gly)
16g.3744956A>GCA394566688CREBBPc.3920T>C (p.Val1307Ala)
c.3806T>C (p.Val1269Ala)
c.2555T>C (p.Val852Ala)
n.384T>C
c.226T>C
n.2T>C
c.3875T>C (p.Val1292Ala)
c.3503T>C (p.Val1168Ala)
c.3866T>C (p.Val1289Ala)
c.3167T>C (p.Val1056Ala)
c.3914T>C (p.Val1305Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3744956A>TCA394566689CREBBPc.3920T>A (p.Val1307Glu)
c.3806T>A (p.Val1269Glu)
c.2555T>A (p.Val852Glu)
n.384T>A
c.226T>A
n.2T>A
c.3875T>A (p.Val1292Glu)
c.3503T>A (p.Val1168Glu)
c.3866T>A (p.Val1289Glu)
c.3167T>A (p.Val1056Glu)
c.3914T>A (p.Val1305Glu)
16g.3744957C>ACA394566690CREBBPc.3919G>T (p.Val1307Leu)
c.3805G>T (p.Val1269Leu)
c.2554G>T (p.Val852Leu)
n.383G>T
c.225G>T
n.1G>T
c.3874G>T (p.Val1292Leu)
c.3502G>T (p.Val1168Leu)
c.3865G>T (p.Val1289Leu)
c.3166G>T (p.Val1056Leu)
c.3913G>T (p.Val1305Leu)
 dbSNP gnomAD v2 gnomAD v4
16g.3744957C=CA2202929935CREBBPc.3919G= (p.Val1307=)
c.3805G= (p.Val1269=)
c.2554G= (p.Val852=)
n.383G=
c.225G=
n.1G=
c.3874G= (p.Val1292=)
c.3502G= (p.Val1168=)
c.3865G= (p.Val1289=)
c.3166G= (p.Val1056=)
c.3913G= (p.Val1305=)
16g.3744957C>GCA394566691CREBBPc.3919G>C (p.Val1307Leu)
c.3805G>C (p.Val1269Leu)
c.2554G>C (p.Val852Leu)
n.383G>C
c.225G>C
n.1G>C
c.3874G>C (p.Val1292Leu)
c.3502G>C (p.Val1168Leu)
c.3865G>C (p.Val1289Leu)
c.3166G>C (p.Val1056Leu)
c.3913G>C (p.Val1305Leu)
 dbSNP gnomAD v3 gnomAD v4
16g.3744957C>TCA7869661CREBBPc.3919G>A (p.Val1307Met)
c.3805G>A (p.Val1269Met)
c.2554G>A (p.Val852Met)
n.383G>A
c.225G>A
n.1G>A
c.3874G>A (p.Val1292Met)
c.3502G>A (p.Val1168Met)
c.3865G>A (p.Val1289Met)
c.3166G>A (p.Val1056Met)
c.3913G>A (p.Val1305Met)
 dbSNP ExAC gnomAD v2
16g.3744958A=CA2202929938CREBBPc.3918T= (p.Phe1306=)
c.3804T= (p.Phe1268=)
c.2553T= (p.Phe851=)
n.382T=
c.224T=
c.3873T= (p.Phe1291=)
c.3501T= (p.Phe1167=)
c.3864T= (p.Phe1288=)
c.3165T= (p.Phe1055=)
c.3912T= (p.Phe1304=)
16g.3744958A>CCA394566692CREBBPc.3918T>G (p.Phe1306Leu)
c.3804T>G (p.Phe1268Leu)
c.2553T>G (p.Phe851Leu)
n.382T>G
c.224T>G
c.3873T>G (p.Phe1291Leu)
c.3501T>G (p.Phe1167Leu)
c.3864T>G (p.Phe1288Leu)
c.3165T>G (p.Phe1055Leu)
c.3912T>G (p.Phe1304Leu)
16g.3744958A>GCA7869662CREBBPc.3918T>C (p.Phe1306=)
c.3804T>C (p.Phe1268=)
c.2553T>C (p.Phe851=)
n.382T>C
c.224T>C
c.3873T>C (p.Phe1291=)
c.3501T>C (p.Phe1167=)
c.3864T>C (p.Phe1288=)
c.3165T>C (p.Phe1055=)
c.3912T>C (p.Phe1304=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3744958A>TCA394566693CREBBPc.3918T>A (p.Phe1306Leu)
c.3804T>A (p.Phe1268Leu)
c.2553T>A (p.Phe851Leu)
n.382T>A
c.224T>A
c.3873T>A (p.Phe1291Leu)
c.3501T>A (p.Phe1167Leu)
c.3864T>A (p.Phe1288Leu)
c.3165T>A (p.Phe1055Leu)
c.3912T>A (p.Phe1304Leu)
16g.3744959A=CA2202929940CREBBPc.3917T= (p.Phe1306=)
c.3803T= (p.Phe1268=)
c.2552T= (p.Phe851=)
n.381T=
c.223T=
c.3872T= (p.Phe1291=)
c.3500T= (p.Phe1167=)
c.3863T= (p.Phe1288=)
c.3164T= (p.Phe1055=)
c.3911T= (p.Phe1304=)
16g.3744959A>CCA394566696CREBBPc.3917T>G (p.Phe1306Cys)
c.3803T>G (p.Phe1268Cys)
c.2552T>G (p.Phe851Cys)
n.381T>G
c.223T>G
c.3872T>G (p.Phe1291Cys)
c.3500T>G (p.Phe1167Cys)
c.3863T>G (p.Phe1288Cys)
c.3164T>G (p.Phe1055Cys)
c.3911T>G (p.Phe1304Cys)
16g.3744959A>GCA394566694CREBBPc.3917T>C (p.Phe1306Ser)
c.3803T>C (p.Phe1268Ser)
c.2552T>C (p.Phe851Ser)
n.381T>C
c.223T>C
c.3872T>C (p.Phe1291Ser)
c.3500T>C (p.Phe1167Ser)
c.3863T>C (p.Phe1288Ser)
c.3164T>C (p.Phe1055Ser)
c.3911T>C (p.Phe1304Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.3744959A>TCA394566695CREBBPc.3917T>A (p.Phe1306Tyr)
c.3803T>A (p.Phe1268Tyr)
c.2552T>A (p.Phe851Tyr)
n.381T>A
c.223T>A
c.3872T>A (p.Phe1291Tyr)
c.3500T>A (p.Phe1167Tyr)
c.3863T>A (p.Phe1288Tyr)
c.3164T>A (p.Phe1055Tyr)
c.3911T>A (p.Phe1304Tyr)
16g.3744960A=CA2202929942CREBBPc.3916T= (p.Phe1306=)
c.3802T= (p.Phe1268=)
c.2551T= (p.Phe851=)
n.380T=
c.222T=
c.3871T= (p.Phe1291=)
c.3499T= (p.Phe1167=)
c.3862T= (p.Phe1288=)
c.3163T= (p.Phe1055=)
c.3910T= (p.Phe1304=)
16g.3744960A>CCA7869663CREBBPc.3916T>G (p.Phe1306Val)
c.3802T>G (p.Phe1268Val)
c.2551T>G (p.Phe851Val)
n.380T>G
c.222T>G
c.3871T>G (p.Phe1291Val)
c.3499T>G (p.Phe1167Val)
c.3862T>G (p.Phe1288Val)
c.3163T>G (p.Phe1055Val)
c.3910T>G (p.Phe1304Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3744960A>GCA394566697CREBBPc.3916T>C (p.Phe1306Leu)
c.3802T>C (p.Phe1268Leu)
c.2551T>C (p.Phe851Leu)
n.380T>C
c.222T>C
c.3871T>C (p.Phe1291Leu)
c.3499T>C (p.Phe1167Leu)
c.3862T>C (p.Phe1288Leu)
c.3163T>C (p.Phe1055Leu)
c.3910T>C (p.Phe1304Leu)
16g.3744960A>TCA394566698CREBBPc.3916T>A (p.Phe1306Ile)
c.3802T>A (p.Phe1268Ile)
c.2551T>A (p.Phe851Ile)
n.380T>A
c.222T>A
c.3871T>A (p.Phe1291Ile)
c.3499T>A (p.Phe1167Ile)
c.3862T>A (p.Phe1288Ile)
c.3163T>A (p.Phe1055Ile)
c.3910T>A (p.Phe1304Ile)
16g.3744961A>CCA493281308CREBBPc.3915T>G (p.Gly1305=)
c.3801T>G (p.Gly1267=)
c.2550T>G (p.Gly850=)
n.379T>G
c.221T>G
c.3870T>G (p.Gly1290=)
c.3498T>G (p.Gly1166=)
c.3861T>G (p.Gly1287=)
c.3162T>G (p.Gly1054=)
c.3909T>G (p.Gly1303=)
16g.3744961A>GCA493281309CREBBPc.3915T>C (p.Gly1305=)
c.3801T>C (p.Gly1267=)
c.2550T>C (p.Gly850=)
n.379T>C
c.221T>C
c.3870T>C (p.Gly1290=)
c.3498T>C (p.Gly1166=)
c.3861T>C (p.Gly1287=)
c.3162T>C (p.Gly1054=)
c.3909T>C (p.Gly1303=)
16g.3744961A>TCA493281310CREBBPc.3915T>A (p.Gly1305=)
c.3801T>A (p.Gly1267=)
c.2550T>A (p.Gly850=)
n.379T>A
c.221T>A
c.3870T>A (p.Gly1290=)
c.3498T>A (p.Gly1166=)
c.3861T>A (p.Gly1287=)
c.3162T>A (p.Gly1054=)
c.3909T>A (p.Gly1303=)
16g.3744962C>ACA394566699CREBBPc.3915-1G>T (n.3915-1G>T)
c.3801-1G>T (n.3801-1G>T)
c.2550-1G>T (n.2550-1G>T)
n.379-1G>T
c.221-1G>T
c.3870-1G>T (n.3870-1G>T)
c.3498-1G>T (n.3498-1G>T)
c.3861-1G>T (n.3861-1G>T)
c.3162-1G>T (n.3162-1G>T)
c.3909-1G>T (n.3909-1G>T)
16g.3744962C>GCA394566700CREBBPc.3915-1G>C (n.3915-1G>C)
c.3801-1G>C (n.3801-1G>C)
c.2550-1G>C (n.2550-1G>C)
n.379-1G>C
c.221-1G>C
c.3870-1G>C (n.3870-1G>C)
c.3498-1G>C (n.3498-1G>C)
c.3861-1G>C (n.3861-1G>C)
c.3162-1G>C (n.3162-1G>C)
c.3909-1G>C (n.3909-1G>C)
16g.3744962C>TCA394566701CREBBPc.3915-1G>A (n.3915-1G>A)
c.3801-1G>A (n.3801-1G>A)
c.2550-1G>A (n.2550-1G>A)
n.379-1G>A
c.221-1G>A
c.3870-1G>A (n.3870-1G>A)
c.3498-1G>A (n.3498-1G>A)
c.3861-1G>A (n.3861-1G>A)
c.3162-1G>A (n.3162-1G>A)
c.3909-1G>A (n.3909-1G>A)
 COSMIC
16g.3744963T>ACA394566702CREBBPc.3915-2A>T (n.3915-2A>T)
c.3801-2A>T (n.3801-2A>T)
c.2550-2A>T (n.2550-2A>T)
n.379-2A>T
c.221-2A>T
c.3870-2A>T (n.3870-2A>T)
c.3498-2A>T (n.3498-2A>T)
c.3861-2A>T (n.3861-2A>T)
c.3162-2A>T (n.3162-2A>T)
c.3909-2A>T (n.3909-2A>T)
16g.3744963T>CCA394566703CREBBPc.3915-2A>G (n.3915-2A>G)
c.3801-2A>G (n.3801-2A>G)
c.2550-2A>G (n.2550-2A>G)
n.379-2A>G
c.221-2A>G
c.3870-2A>G (n.3870-2A>G)
c.3498-2A>G (n.3498-2A>G)
c.3861-2A>G (n.3861-2A>G)
c.3162-2A>G (n.3162-2A>G)
c.3909-2A>G (n.3909-2A>G)
16g.3744963T>GCA394566704CREBBPc.3915-2A>C (n.3915-2A>C)
c.3801-2A>C (n.3801-2A>C)
c.2550-2A>C (n.2550-2A>C)
n.379-2A>C
c.221-2A>C
c.3870-2A>C (n.3870-2A>C)
c.3498-2A>C (n.3498-2A>C)
c.3861-2A>C (n.3861-2A>C)
c.3162-2A>C (n.3162-2A>C)
c.3909-2A>C (n.3909-2A>C)
16g.3744964G>ACA2731842192CREBBPc.3915-3C>T (n.3915-3C>T)
c.3801-3C>T (n.3801-3C>T)
c.2550-3C>T (n.2550-3C>T)
n.379-3C>T
c.221-3C>T
c.3870-3C>T (n.3870-3C>T)
c.3498-3C>T (n.3498-3C>T)
c.3861-3C>T (n.3861-3C>T)
c.3162-3C>T (n.3162-3C>T)
c.3909-3C>T (n.3909-3C>T)
 dbSNP
16g.3744964G>TCA2631426622CREBBPc.3915-3C>A (n.3915-3C>A)
c.3801-3C>A (n.3801-3C>A)
c.2550-3C>A (n.2550-3C>A)
n.379-3C>A
c.221-3C>A
c.3870-3C>A (n.3870-3C>A)
c.3498-3C>A (n.3498-3C>A)
c.3861-3C>A (n.3861-3C>A)
c.3162-3C>A (n.3162-3C>A)
c.3909-3C>A (n.3909-3C>A)
 gnomAD v4
16g.3744965C>ACA2509774973CREBBPc.3915-4G>T (n.3915-4G>T)
c.3801-4G>T (n.3801-4G>T)
c.2550-4G>T (n.2550-4G>T)
n.379-4G>T
c.221-4G>T
c.3870-4G>T (n.3870-4G>T)
c.3498-4G>T (n.3498-4G>T)
c.3861-4G>T (n.3861-4G>T)
c.3162-4G>T (n.3162-4G>T)
c.3909-4G>T (n.3909-4G>T)
 gnomAD v4
16g.3744965C>TCA2631426627CREBBPc.3915-4G>A (n.3915-4G>A)
c.3801-4G>A (n.3801-4G>A)
c.2550-4G>A (n.2550-4G>A)
n.379-4G>A
c.221-4G>A
c.3870-4G>A (n.3870-4G>A)
c.3498-4G>A (n.3498-4G>A)
c.3861-4G>A (n.3861-4G>A)
c.3162-4G>A (n.3162-4G>A)
c.3909-4G>A (n.3909-4G>A)
 gnomAD v4
16g.3744969A>GCA2631426628CREBBPc.3915-8T>C (n.3915-8T>C)
c.3801-8T>C (n.3801-8T>C)
c.2550-8T>C (n.2550-8T>C)
n.379-8T>C
c.221-8T>C
c.3870-8T>C (n.3870-8T>C)
c.3498-8T>C (n.3498-8T>C)
c.3861-8T>C (n.3861-8T>C)
c.3162-8T>C (n.3162-8T>C)
c.3909-8T>C (n.3909-8T>C)
 gnomAD v4
16g.3744970T>CCA7869664CREBBPc.3915-9A>G (n.3915-9A>G)
c.3801-9A>G (n.3801-9A>G)
c.2550-9A>G (n.2550-9A>G)
n.379-9A>G
c.221-9A>G
c.3870-9A>G (n.3870-9A>G)
c.3498-9A>G (n.3498-9A>G)
c.3861-9A>G (n.3861-9A>G)
c.3162-9A>G (n.3162-9A>G)
c.3909-9A>G (n.3909-9A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3744970T=CA2202929943CREBBPc.3915-9A= (n.3915-9A=)
c.3801-9A= (n.3801-9A=)
c.2550-9A= (n.2550-9A=)
n.379-9A=
c.221-9A=
c.3870-9A= (n.3870-9A=)
c.3498-9A= (n.3498-9A=)
c.3861-9A= (n.3861-9A=)
c.3162-9A= (n.3162-9A=)
c.3909-9A= (n.3909-9A=)
16g.3744973T>CCA7869665CREBBPc.3915-12A>G (n.3915-12A>G)
c.3801-12A>G (n.3801-12A>G)
c.2550-12A>G (n.2550-12A>G)
n.379-12A>G
c.221-12A>G
c.3870-12A>G (n.3870-12A>G)
c.3498-12A>G (n.3498-12A>G)
c.3861-12A>G (n.3861-12A>G)
c.3162-12A>G (n.3162-12A>G)
c.3909-12A>G (n.3909-12A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3744973T=CA2202929945CREBBPc.3915-12A= (n.3915-12A=)
c.3801-12A= (n.3801-12A=)
c.2550-12A= (n.2550-12A=)
n.379-12A=
c.221-12A=
c.3870-12A= (n.3870-12A=)
c.3498-12A= (n.3498-12A=)
c.3861-12A= (n.3861-12A=)
c.3162-12A= (n.3162-12A=)
c.3909-12A= (n.3909-12A=)
16g.3744974A>GCA2731842214CREBBPc.3915-13T>C (n.3915-13T>C)
c.3801-13T>C (n.3801-13T>C)
c.2550-13T>C (n.2550-13T>C)
n.379-13T>C
c.221-13T>C
c.3870-13T>C (n.3870-13T>C)
c.3498-13T>C (n.3498-13T>C)
c.3861-13T>C (n.3861-13T>C)
c.3162-13T>C (n.3162-13T>C)
c.3909-13T>C (n.3909-13T>C)
 dbSNP
16g.3744975G>ACA2631426632CREBBPc.3915-14C>T (n.3915-14C>T)
c.3801-14C>T (n.3801-14C>T)
c.2550-14C>T (n.2550-14C>T)
n.379-14C>T
c.221-14C>T
c.3870-14C>T (n.3870-14C>T)
c.3498-14C>T (n.3498-14C>T)
c.3861-14C>T (n.3861-14C>T)
c.3162-14C>T (n.3162-14C>T)
c.3909-14C>T (n.3909-14C>T)
 gnomAD v4
16g.3744975G=CA2202929947CREBBPc.3915-14C= (n.3915-14C=)
c.3801-14C= (n.3801-14C=)
c.2550-14C= (n.2550-14C=)
n.379-14C=
c.221-14C=
c.3870-14C= (n.3870-14C=)
c.3498-14C= (n.3498-14C=)
c.3861-14C= (n.3861-14C=)
c.3162-14C= (n.3162-14C=)
c.3909-14C= (n.3909-14C=)
16g.3744975G>TCA7869666CREBBPc.3915-14C>A (n.3915-14C>A)
c.3801-14C>A (n.3801-14C>A)
c.2550-14C>A (n.2550-14C>A)
n.379-14C>A
c.221-14C>A
c.3870-14C>A (n.3870-14C>A)
c.3498-14C>A (n.3498-14C>A)
c.3861-14C>A (n.3861-14C>A)
c.3162-14C>A (n.3162-14C>A)
c.3909-14C>A (n.3909-14C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3744976T>ACA276987271CREBBPc.3915-15A>T (n.3915-15A>T)
c.3801-15A>T (n.3801-15A>T)
c.2550-15A>T (n.2550-15A>T)
n.379-15A>T
c.221-15A>T
c.3870-15A>T (n.3870-15A>T)
c.3498-15A>T (n.3498-15A>T)
c.3861-15A>T (n.3861-15A>T)
c.3162-15A>T (n.3162-15A>T)
c.3909-15A>T (n.3909-15A>T)
 dbSNP
16g.3744976T>CCA7869667CREBBPc.3915-15A>G (n.3915-15A>G)
c.3801-15A>G (n.3801-15A>G)
c.2550-15A>G (n.2550-15A>G)
n.379-15A>G
c.221-15A>G
c.3870-15A>G (n.3870-15A>G)
c.3498-15A>G (n.3498-15A>G)
c.3861-15A>G (n.3861-15A>G)
c.3162-15A>G (n.3162-15A>G)
c.3909-15A>G (n.3909-15A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3744976T=CA2202929949CREBBPc.3915-15A= (n.3915-15A=)
c.3801-15A= (n.3801-15A=)
c.2550-15A= (n.2550-15A=)
n.379-15A=
c.221-15A=
c.3870-15A= (n.3870-15A=)
c.3498-15A= (n.3498-15A=)
c.3861-15A= (n.3861-15A=)
c.3162-15A= (n.3162-15A=)
c.3909-15A= (n.3909-15A=)
16g.3744977G>ACA2631426635CREBBPc.3915-16C>T (n.3915-16C>T)
c.3801-16C>T (n.3801-16C>T)
c.2550-16C>T (n.2550-16C>T)
n.379-16C>T
c.221-16C>T
c.3870-16C>T (n.3870-16C>T)
c.3498-16C>T (n.3498-16C>T)
c.3861-16C>T (n.3861-16C>T)
c.3162-16C>T (n.3162-16C>T)
c.3909-16C>T (n.3909-16C>T)
 gnomAD v4
16g.3744977G>TCA2631426636CREBBPc.3915-16C>A (n.3915-16C>A)
c.3801-16C>A (n.3801-16C>A)
c.2550-16C>A (n.2550-16C>A)
n.379-16C>A
c.221-16C>A
c.3870-16C>A (n.3870-16C>A)
c.3498-16C>A (n.3498-16C>A)
c.3861-16C>A (n.3861-16C>A)
c.3162-16C>A (n.3162-16C>A)
c.3909-16C>A (n.3909-16C>A)
 gnomAD v4
16g.3744978G>ACA7869670CREBBPc.3915-17C>T (n.3915-17C>T)
c.3801-17C>T (n.3801-17C>T)
c.2550-17C>T (n.2550-17C>T)
n.379-17C>T
c.221-17C>T
c.3870-17C>T (n.3870-17C>T)
c.3498-17C>T (n.3498-17C>T)
c.3861-17C>T (n.3861-17C>T)
c.3162-17C>T (n.3162-17C>T)
c.3909-17C>T (n.3909-17C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3744978G>CCA7869669CREBBPc.3915-17C>G (n.3915-17C>G)
c.3801-17C>G (n.3801-17C>G)
c.2550-17C>G (n.2550-17C>G)
n.379-17C>G
c.221-17C>G
c.3870-17C>G (n.3870-17C>G)
c.3498-17C>G (n.3498-17C>G)
c.3861-17C>G (n.3861-17C>G)
c.3162-17C>G (n.3162-17C>G)
c.3909-17C>G (n.3909-17C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3744978G=CA2202929950CREBBPc.3915-17C= (n.3915-17C=)
c.3801-17C= (n.3801-17C=)
c.2550-17C= (n.2550-17C=)
n.379-17C=
c.221-17C=
c.3870-17C= (n.3870-17C=)
c.3498-17C= (n.3498-17C=)
c.3861-17C= (n.3861-17C=)
c.3162-17C= (n.3162-17C=)
c.3909-17C= (n.3909-17C=)
16g.3744978G>TCA7869668CREBBPc.3915-17C>A (n.3915-17C>A)
c.3801-17C>A (n.3801-17C>A)
c.2550-17C>A (n.2550-17C>A)
n.379-17C>A
c.221-17C>A
c.3870-17C>A (n.3870-17C>A)
c.3498-17C>A (n.3498-17C>A)
c.3861-17C>A (n.3861-17C>A)
c.3162-17C>A (n.3162-17C>A)
c.3909-17C>A (n.3909-17C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3744979_3744982delinsTATGCA2202929953CREBBPc.3915-21_3915-18delinsCATA (n.3915-21_3915-18delinsCATA)
c.3801-21_3801-18delinsCATA (n.3801-21_3801-18delinsCATA)
c.2550-21_2550-18delinsCATA (n.2550-21_2550-18delinsCATA)
n.379-21_379-18delinsCATA
c.221-21_221-18delinsCATA
c.3870-21_3870-18delinsCATA (n.3870-21_3870-18delinsCATA)
c.3498-21_3498-18delinsCATA (n.3498-21_3498-18delinsCATA)
c.3861-21_3861-18delinsCATA (n.3861-21_3861-18delinsCATA)
c.3162-21_3162-18delinsCATA (n.3162-21_3162-18delinsCATA)
c.3909-21_3909-18delinsCATA (n.3909-21_3909-18delinsCATA)
16g.3744980A>GCA2631426645CREBBPc.3915-19T>C (n.3915-19T>C)
c.3801-19T>C (n.3801-19T>C)
c.2550-19T>C (n.2550-19T>C)
n.379-19T>C
c.221-19T>C
c.3870-19T>C (n.3870-19T>C)
c.3498-19T>C (n.3498-19T>C)
c.3861-19T>C (n.3861-19T>C)
c.3162-19T>C (n.3162-19T>C)
c.3909-19T>C (n.3909-19T>C)
 gnomAD v4
16g.3744984_3744986delCA620465503CREBBPc.3915-21_3915-19del (n.3915-21_3915-19del)
c.3801-21_3801-19del (n.3801-21_3801-19del)
c.2550-21_2550-19del (n.2550-21_2550-19del)
n.379-21_379-19del
c.221-21_221-19del
c.3870-21_3870-19del (n.3870-21_3870-19del)
c.3498-21_3498-19del (n.3498-21_3498-19del)
c.3861-21_3861-19del (n.3861-21_3861-19del)
c.3162-21_3162-19del (n.3162-21_3162-19del)
c.3909-21_3909-19del (n.3909-21_3909-19del)
 dbSNP gnomAD v2 gnomAD v4
16g.3744981T>CCA7869671CREBBPc.3915-20A>G (n.3915-20A>G)
c.3801-20A>G (n.3801-20A>G)
c.2550-20A>G (n.2550-20A>G)
n.379-20A>G
c.221-20A>G
c.3870-20A>G (n.3870-20A>G)
c.3498-20A>G (n.3498-20A>G)
c.3861-20A>G (n.3861-20A>G)
c.3162-20A>G (n.3162-20A>G)
c.3909-20A>G (n.3909-20A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3744981T>GCA620465506CREBBPc.3915-20A>C (n.3915-20A>C)
c.3801-20A>C (n.3801-20A>C)
c.2550-20A>C (n.2550-20A>C)
n.379-20A>C
c.221-20A>C
c.3870-20A>C (n.3870-20A>C)
c.3498-20A>C (n.3498-20A>C)
c.3861-20A>C (n.3861-20A>C)
c.3162-20A>C (n.3162-20A>C)
c.3909-20A>C (n.3909-20A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3744981T=CA2202929955CREBBPc.3915-20A= (n.3915-20A=)
c.3801-20A= (n.3801-20A=)
c.2550-20A= (n.2550-20A=)
n.379-20A=
c.221-20A=
c.3870-20A= (n.3870-20A=)
c.3498-20A= (n.3498-20A=)
c.3861-20A= (n.3861-20A=)
c.3162-20A= (n.3162-20A=)
c.3909-20A= (n.3909-20A=)
16g.3744982G>ACA7869672CREBBPc.3915-21C>T (n.3915-21C>T)
c.3801-21C>T (n.3801-21C>T)
c.2550-21C>T (n.2550-21C>T)
n.379-21C>T
c.221-21C>T
c.3870-21C>T (n.3870-21C>T)
c.3498-21C>T (n.3498-21C>T)
c.3861-21C>T (n.3861-21C>T)
c.3162-21C>T (n.3162-21C>T)
c.3909-21C>T (n.3909-21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3744982G>CCA2631426655CREBBPc.3915-21C>G (n.3915-21C>G)
c.3801-21C>G (n.3801-21C>G)
c.2550-21C>G (n.2550-21C>G)
n.379-21C>G
c.221-21C>G
c.3870-21C>G (n.3870-21C>G)
c.3498-21C>G (n.3498-21C>G)
c.3861-21C>G (n.3861-21C>G)
c.3162-21C>G (n.3162-21C>G)
c.3909-21C>G (n.3909-21C>G)
 gnomAD v4
16g.3744982G=CA2202929956CREBBPc.3915-21C= (n.3915-21C=)
c.3801-21C= (n.3801-21C=)
c.2550-21C= (n.2550-21C=)
n.379-21C=
c.221-21C=
c.3870-21C= (n.3870-21C=)
c.3498-21C= (n.3498-21C=)
c.3861-21C= (n.3861-21C=)
c.3162-21C= (n.3162-21C=)
c.3909-21C= (n.3909-21C=)
16g.3744982G>TCA2631426657CREBBPc.3915-21C>A (n.3915-21C>A)
c.3801-21C>A (n.3801-21C>A)
c.2550-21C>A (n.2550-21C>A)
n.379-21C>A
c.221-21C>A
c.3870-21C>A (n.3870-21C>A)
c.3498-21C>A (n.3498-21C>A)
c.3861-21C>A (n.3861-21C>A)
c.3162-21C>A (n.3162-21C>A)
c.3909-21C>A (n.3909-21C>A)
 gnomAD v4
16g.3744985G>ACA7869673CREBBPc.3915-24C>T (n.3915-24C>T)
c.3801-24C>T (n.3801-24C>T)
c.2550-24C>T (n.2550-24C>T)
n.379-24C>T
c.221-24C>T
c.3870-24C>T (n.3870-24C>T)
c.3498-24C>T (n.3498-24C>T)
c.3861-24C>T (n.3861-24C>T)
c.3162-24C>T (n.3162-24C>T)
c.3909-24C>T (n.3909-24C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3744985G=CA2202929957CREBBPc.3915-24C= (n.3915-24C=)
c.3801-24C= (n.3801-24C=)
c.2550-24C= (n.2550-24C=)
n.379-24C=
c.221-24C=
c.3870-24C= (n.3870-24C=)
c.3498-24C= (n.3498-24C=)
c.3861-24C= (n.3861-24C=)
c.3162-24C= (n.3162-24C=)
c.3909-24C= (n.3909-24C=)
16g.3744985G>TCA2631426662CREBBPc.3915-24C>A (n.3915-24C>A)
c.3801-24C>A (n.3801-24C>A)
c.2550-24C>A (n.2550-24C>A)
n.379-24C>A
c.221-24C>A
c.3870-24C>A (n.3870-24C>A)
c.3498-24C>A (n.3498-24C>A)
c.3861-24C>A (n.3861-24C>A)
c.3162-24C>A (n.3162-24C>A)
c.3909-24C>A (n.3909-24C>A)
 gnomAD v4
16g.3744986A>GCA2631426665CREBBPc.3915-25T>C (n.3915-25T>C)
c.3801-25T>C (n.3801-25T>C)
c.2550-25T>C (n.2550-25T>C)
n.379-25T>C
c.221-25T>C
c.3870-25T>C (n.3870-25T>C)
c.3498-25T>C (n.3498-25T>C)
c.3861-25T>C (n.3861-25T>C)
c.3162-25T>C (n.3162-25T>C)
c.3909-25T>C (n.3909-25T>C)
 gnomAD v4
16g.3744987G>ACA276987312CREBBPc.3915-26C>T (n.3915-26C>T)
c.3801-26C>T (n.3801-26C>T)
c.2550-26C>T (n.2550-26C>T)
n.379-26C>T
c.221-26C>T
c.3870-26C>T (n.3870-26C>T)
c.3498-26C>T (n.3498-26C>T)
c.3861-26C>T (n.3861-26C>T)
c.3162-26C>T (n.3162-26C>T)
c.3909-26C>T (n.3909-26C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.3744987G>CCA2631426671CREBBPc.3915-26C>G (n.3915-26C>G)
c.3801-26C>G (n.3801-26C>G)
c.2550-26C>G (n.2550-26C>G)
n.379-26C>G
c.221-26C>G
c.3870-26C>G (n.3870-26C>G)
c.3498-26C>G (n.3498-26C>G)
c.3861-26C>G (n.3861-26C>G)
c.3162-26C>G (n.3162-26C>G)
c.3909-26C>G (n.3909-26C>G)
 gnomAD v4
16g.3744987G=CA2202929959CREBBPc.3915-26C= (n.3915-26C=)
c.3801-26C= (n.3801-26C=)
c.2550-26C= (n.2550-26C=)
n.379-26C=
c.221-26C=
c.3870-26C= (n.3870-26C=)
c.3498-26C= (n.3498-26C=)
c.3861-26C= (n.3861-26C=)
c.3162-26C= (n.3162-26C=)
c.3909-26C= (n.3909-26C=)
16g.3744987G>TCA2631426672CREBBPc.3915-26C>A (n.3915-26C>A)
c.3801-26C>A (n.3801-26C>A)
c.2550-26C>A (n.2550-26C>A)
n.379-26C>A
c.221-26C>A
c.3870-26C>A (n.3870-26C>A)
c.3498-26C>A (n.3498-26C>A)
c.3861-26C>A (n.3861-26C>A)
c.3162-26C>A (n.3162-26C>A)
c.3909-26C>A (n.3909-26C>A)
 gnomAD v4
16g.3744988A=CA2202929960CREBBPc.3915-27T= (n.3915-27T=)
c.3801-27T= (n.3801-27T=)
c.2550-27T= (n.2550-27T=)
n.379-27T=
c.221-27T=
c.3870-27T= (n.3870-27T=)
c.3498-27T= (n.3498-27T=)
c.3861-27T= (n.3861-27T=)
c.3162-27T= (n.3162-27T=)
c.3909-27T= (n.3909-27T=)
16g.3744988A>GCA2202929961CREBBPc.3915-27T>C (n.3915-27T>C)
c.3801-27T>C (n.3801-27T>C)
c.2550-27T>C (n.2550-27T>C)
n.379-27T>C
c.221-27T>C
c.3870-27T>C (n.3870-27T>C)
c.3498-27T>C (n.3498-27T>C)
c.3861-27T>C (n.3861-27T>C)
c.3162-27T>C (n.3162-27T>C)
c.3909-27T>C (n.3909-27T>C)
 dbSNP
16g.3744988A>TCA2631426675CREBBPc.3915-27T>A (n.3915-27T>A)
c.3801-27T>A (n.3801-27T>A)
c.2550-27T>A (n.2550-27T>A)
n.379-27T>A
c.221-27T>A
c.3870-27T>A (n.3870-27T>A)
c.3498-27T>A (n.3498-27T>A)
c.3861-27T>A (n.3861-27T>A)
c.3162-27T>A (n.3162-27T>A)
c.3909-27T>A (n.3909-27T>A)
 gnomAD v4
16g.3744989C=CA2202929963CREBBPc.3915-28G= (n.3915-28G=)
c.3801-28G= (n.3801-28G=)
c.2550-28G= (n.2550-28G=)
n.379-28G=
c.221-28G=
c.3870-28G= (n.3870-28G=)
c.3498-28G= (n.3498-28G=)
c.3861-28G= (n.3861-28G=)
c.3162-28G= (n.3162-28G=)
c.3909-28G= (n.3909-28G=)
16g.3744989C>TCA2202929964CREBBPc.3915-28G>A (n.3915-28G>A)
c.3801-28G>A (n.3801-28G>A)
c.2550-28G>A (n.2550-28G>A)
n.379-28G>A
c.221-28G>A
c.3870-28G>A (n.3870-28G>A)
c.3498-28G>A (n.3498-28G>A)
c.3861-28G>A (n.3861-28G>A)
c.3162-28G>A (n.3162-28G>A)
c.3909-28G>A (n.3909-28G>A)
 dbSNP gnomAD v4
16g.3744989_3744990delinsCTCA2202929962CREBBPc.3915-29_3915-28delinsAG (n.3915-29_3915-28delinsAG)
c.3801-29_3801-28delinsAG (n.3801-29_3801-28delinsAG)
c.2550-29_2550-28delinsAG (n.2550-29_2550-28delinsAG)
n.379-29_379-28delinsAG
c.221-29_221-28delinsAG
c.3870-29_3870-28delinsAG (n.3870-29_3870-28delinsAG)
c.3498-29_3498-28delinsAG (n.3498-29_3498-28delinsAG)
c.3861-29_3861-28delinsAG (n.3861-29_3861-28delinsAG)
c.3162-29_3162-28delinsAG (n.3162-29_3162-28delinsAG)
c.3909-29_3909-28delinsAG (n.3909-29_3909-28delinsAG)
16g.3744990delCA720732965CREBBPc.3915-29del (n.3915-29del)
c.3801-29del (n.3801-29del)
c.2550-29del (n.2550-29del)
n.379-29del
c.221-29del
c.3870-29del (n.3870-29del)
c.3498-29del (n.3498-29del)
c.3861-29del (n.3861-29del)
c.3162-29del (n.3162-29del)
c.3909-29del (n.3909-29del)
 dbSNP gnomAD v4
16g.3744990T>ACA2202929967CREBBPc.3915-29A>T (n.3915-29A>T)
c.3801-29A>T (n.3801-29A>T)
c.2550-29A>T (n.2550-29A>T)
n.379-29A>T
c.221-29A>T
c.3870-29A>T (n.3870-29A>T)
c.3498-29A>T (n.3498-29A>T)
c.3861-29A>T (n.3861-29A>T)
c.3162-29A>T (n.3162-29A>T)
c.3909-29A>T (n.3909-29A>T)
 dbSNP gnomAD v4
16g.3744990T>CCA7869674CREBBPc.3915-29A>G (n.3915-29A>G)
c.3801-29A>G (n.3801-29A>G)
c.2550-29A>G (n.2550-29A>G)
n.379-29A>G
c.221-29A>G
c.3870-29A>G (n.3870-29A>G)
c.3498-29A>G (n.3498-29A>G)
c.3861-29A>G (n.3861-29A>G)
c.3162-29A>G (n.3162-29A>G)
c.3909-29A>G (n.3909-29A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3744990T=CA2202929966CREBBPc.3915-29A= (n.3915-29A=)
c.3801-29A= (n.3801-29A=)
c.2550-29A= (n.2550-29A=)
n.379-29A=
c.221-29A=
c.3870-29A= (n.3870-29A=)
c.3498-29A= (n.3498-29A=)
c.3861-29A= (n.3861-29A=)
c.3162-29A= (n.3162-29A=)
c.3909-29A= (n.3909-29A=)
16g.3744991G>ACA2631426687CREBBPc.3915-30C>T (n.3915-30C>T)
c.3801-30C>T (n.3801-30C>T)
c.2550-30C>T (n.2550-30C>T)
n.379-30C>T
c.221-30C>T
c.3870-30C>T (n.3870-30C>T)
c.3498-30C>T (n.3498-30C>T)
c.3861-30C>T (n.3861-30C>T)
c.3162-30C>T (n.3162-30C>T)
c.3909-30C>T (n.3909-30C>T)
 dbSNP gnomAD v4
16g.3744991G>CCA2805633448CREBBPc.3915-30C>G (n.3915-30C>G)
c.3801-30C>G (n.3801-30C>G)
c.2550-30C>G (n.2550-30C>G)
n.379-30C>G
c.221-30C>G
c.3870-30C>G (n.3870-30C>G)
c.3498-30C>G (n.3498-30C>G)
c.3861-30C>G (n.3861-30C>G)
c.3162-30C>G (n.3162-30C>G)
c.3909-30C>G (n.3909-30C>G)
16g.3744991G>TCA2631426689CREBBPc.3915-30C>A (n.3915-30C>A)
c.3801-30C>A (n.3801-30C>A)
c.2550-30C>A (n.2550-30C>A)
n.379-30C>A
c.221-30C>A
c.3870-30C>A (n.3870-30C>A)
c.3498-30C>A (n.3498-30C>A)
c.3861-30C>A (n.3861-30C>A)
c.3162-30C>A (n.3162-30C>A)
c.3909-30C>A (n.3909-30C>A)
 gnomAD v4
16g.3744992T>CCA620465515CREBBPc.3915-31A>G (n.3915-31A>G)
c.3801-31A>G (n.3801-31A>G)
c.2550-31A>G (n.2550-31A>G)
n.379-31A>G
c.221-31A>G
c.3870-31A>G (n.3870-31A>G)
c.3498-31A>G (n.3498-31A>G)
c.3861-31A>G (n.3861-31A>G)
c.3162-31A>G (n.3162-31A>G)
c.3909-31A>G (n.3909-31A>G)
 dbSNP gnomAD v2 gnomAD v4
16g.3744992T=CA2202929969CREBBPc.3915-31A= (n.3915-31A=)
c.3801-31A= (n.3801-31A=)
c.2550-31A= (n.2550-31A=)
n.379-31A=
c.221-31A=
c.3870-31A= (n.3870-31A=)
c.3498-31A= (n.3498-31A=)
c.3861-31A= (n.3861-31A=)
c.3162-31A= (n.3162-31A=)
c.3909-31A= (n.3909-31A=)
16g.3744993A=CA2202929971CREBBPc.3915-32T= (n.3915-32T=)
c.3801-32T= (n.3801-32T=)
c.2550-32T= (n.2550-32T=)
n.379-32T=
c.221-32T=
c.3870-32T= (n.3870-32T=)
c.3498-32T= (n.3498-32T=)
c.3861-32T= (n.3861-32T=)
c.3162-32T= (n.3162-32T=)
c.3909-32T= (n.3909-32T=)
16g.3744993A>GCA2202929970CREBBPc.3915-32T>C (n.3915-32T>C)
c.3801-32T>C (n.3801-32T>C)
c.2550-32T>C (n.2550-32T>C)
n.379-32T>C
c.221-32T>C
c.3870-32T>C (n.3870-32T>C)
c.3498-32T>C (n.3498-32T>C)
c.3861-32T>C (n.3861-32T>C)
c.3162-32T>C (n.3162-32T>C)
c.3909-32T>C (n.3909-32T>C)
 dbSNP gnomAD v4
16g.3744994T>GCA720732967CREBBPc.3915-33A>C (n.3915-33A>C)
c.3801-33A>C (n.3801-33A>C)
c.2550-33A>C (n.2550-33A>C)
n.379-33A>C
c.221-33A>C
c.3870-33A>C (n.3870-33A>C)
c.3498-33A>C (n.3498-33A>C)
c.3861-33A>C (n.3861-33A>C)
c.3162-33A>C (n.3162-33A>C)
c.3909-33A>C (n.3909-33A>C)
 dbSNP
16g.3744994T=CA2202929973CREBBPc.3915-33A= (n.3915-33A=)
c.3801-33A= (n.3801-33A=)
c.2550-33A= (n.2550-33A=)
n.379-33A=
c.221-33A=
c.3870-33A= (n.3870-33A=)
c.3498-33A= (n.3498-33A=)
c.3861-33A= (n.3861-33A=)
c.3162-33A= (n.3162-33A=)
c.3909-33A= (n.3909-33A=)

Number of alleles fetched