Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3810551G>ACA2631429532CREBBPc.975+52C>T (n.975+52C>T)
c.921+52C>T (n.921+52C>T)
c.222+52C>T (n.222+52C>T)
 gnomAD v4
16g.3810551G=CA2202971783CREBBPc.975+52C= (n.975+52C=)
c.921+52C= (n.921+52C=)
c.222+52C= (n.222+52C=)
16g.3810551G>TCA277007659CREBBPc.975+52C>A (n.975+52C>A)
c.921+52C>A (n.921+52C>A)
c.222+52C>A (n.222+52C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3810552A=CA2202971784CREBBPc.975+51T= (n.975+51T=)
c.921+51T= (n.921+51T=)
c.222+51T= (n.222+51T=)
16g.3810552A>GCA620466131CREBBPc.975+51T>C (n.975+51T>C)
c.921+51T>C (n.921+51T>C)
c.222+51T>C (n.222+51T>C)
 dbSNP gnomAD v2 gnomAD v4
16g.3810552_3810553delinsACCA2202971785CREBBPc.975+50_975+51delinsGT (n.975+50_975+51delinsGT)
c.921+50_921+51delinsGT (n.921+50_921+51delinsGT)
c.222+50_222+51delinsGT (n.222+50_222+51delinsGT)
16g.3810553C>ACA620466133CREBBPc.975+50G>T (n.975+50G>T)
c.921+50G>T (n.921+50G>T)
c.222+50G>T (n.222+50G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3810553C=CA2202971786CREBBPc.975+50G= (n.975+50G=)
c.921+50G= (n.921+50G=)
c.222+50G= (n.222+50G=)
16g.3810553C>TCA7870538CREBBPc.975+50G>A (n.975+50G>A)
c.921+50G>A (n.921+50G>A)
c.222+50G>A (n.222+50G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810554delCA2202971787CREBBPc.975+50del (n.975+50del)
c.921+50del (n.921+50del)
c.222+50del (n.222+50del)
 dbSNP
16g.3810556C>ACA7870539CREBBPc.975+47G>T (n.975+47G>T)
c.921+47G>T (n.921+47G>T)
c.222+47G>T (n.222+47G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3810556C=CA2202971788CREBBPc.975+47G= (n.975+47G=)
c.921+47G= (n.921+47G=)
c.222+47G= (n.222+47G=)
16g.3810556C>TCA2631429533CREBBPc.975+47G>A (n.975+47G>A)
c.921+47G>A (n.921+47G>A)
c.222+47G>A (n.222+47G>A)
 gnomAD v4
16g.3810558G>ACA2731708490CREBBPc.975+45C>T (n.975+45C>T)
c.921+45C>T (n.921+45C>T)
c.222+45C>T (n.222+45C>T)
 dbSNP
16g.3810558G>TCA2631429534CREBBPc.975+45C>A (n.975+45C>A)
c.921+45C>A (n.921+45C>A)
c.222+45C>A (n.222+45C>A)
 gnomAD v4
16g.3810559C>ACA7870540CREBBPc.975+44G>T (n.975+44G>T)
c.921+44G>T (n.921+44G>T)
c.222+44G>T (n.222+44G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3810559C=CA2202971789CREBBPc.975+44G= (n.975+44G=)
c.921+44G= (n.921+44G=)
c.222+44G= (n.222+44G=)
16g.3810559C>TCA2731578485CREBBPc.975+44G>A (n.975+44G>A)
c.921+44G>A (n.921+44G>A)
c.222+44G>A (n.222+44G>A)
 dbSNP
16g.3810561C>ACA2731647217CREBBPc.975+42G>T (n.975+42G>T)
c.921+42G>T (n.921+42G>T)
c.222+42G>T (n.222+42G>T)
 dbSNP
16g.3810561C=CA2202971790CREBBPc.975+42G= (n.975+42G=)
c.921+42G= (n.921+42G=)
c.222+42G= (n.222+42G=)
16g.3810561C>GCA2202971791CREBBPc.975+42G>C (n.975+42G>C)
c.921+42G>C (n.921+42G>C)
c.222+42G>C (n.222+42G>C)
 dbSNP gnomAD v4
16g.3810562C=CA2202971792CREBBPc.975+41G= (n.975+41G=)
c.921+41G= (n.921+41G=)
c.222+41G= (n.222+41G=)
16g.3810562C>TCA277007669CREBBPc.975+41G>A (n.975+41G>A)
c.921+41G>A (n.921+41G>A)
c.222+41G>A (n.222+41G>A)
 dbSNP gnomAD v4
16g.3810563C>ACA2575918624CREBBPc.975+40G>T (n.975+40G>T)
c.921+40G>T (n.921+40G>T)
c.222+40G>T (n.222+40G>T)
16g.3810563C=CA2202971793CREBBPc.975+40G= (n.975+40G=)
c.921+40G= (n.921+40G=)
c.222+40G= (n.222+40G=)
16g.3810563C>GCA7870541CREBBPc.975+40G>C (n.975+40G>C)
c.921+40G>C (n.921+40G>C)
c.222+40G>C (n.222+40G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3810564A=CA2202971794CREBBPc.975+39T= (n.975+39T=)
c.921+39T= (n.921+39T=)
c.222+39T= (n.222+39T=)
16g.3810564A>GCA620714699CREBBPc.975+39T>C (n.975+39T>C)
c.921+39T>C (n.921+39T>C)
c.222+39T>C (n.222+39T>C)
 dbSNP gnomAD v2 gnomAD v4
16g.3810565C>TCA2631429535CREBBPc.975+38G>A (n.975+38G>A)
c.921+38G>A (n.921+38G>A)
c.222+38G>A (n.222+38G>A)
 gnomAD v4
16g.3810566C>ACA2631429536CREBBPc.975+37G>T (n.975+37G>T)
c.921+37G>T (n.921+37G>T)
c.222+37G>T (n.222+37G>T)
 gnomAD v4
16g.3810566C=CA2202971795CREBBPc.975+37G= (n.975+37G=)
c.921+37G= (n.921+37G=)
c.222+37G= (n.222+37G=)
16g.3810566C>TCA7870542CREBBPc.975+37G>A (n.975+37G>A)
c.921+37G>A (n.921+37G>A)
c.222+37G>A (n.222+37G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810567G>ACA7870543CREBBPc.975+36C>T (n.975+36C>T)
c.921+36C>T (n.921+36C>T)
c.222+36C>T (n.222+36C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810567G>CCA2731570292CREBBPc.975+36C>G (n.975+36C>G)
c.921+36C>G (n.921+36C>G)
c.222+36C>G (n.222+36C>G)
 dbSNP
16g.3810567G=CA2202971796CREBBPc.975+36C= (n.975+36C=)
c.921+36C= (n.921+36C=)
c.222+36C= (n.222+36C=)
16g.3810567G>TCA2575918625CREBBPc.975+36C>A (n.975+36C>A)
c.921+36C>A (n.921+36C>A)
c.222+36C>A (n.222+36C>A)
16g.3810568G>ACA2805635544CREBBPc.975+35C>T (n.975+35C>T)
c.921+35C>T (n.921+35C>T)
c.222+35C>T (n.222+35C>T)
16g.3810568G>CCA2731708491CREBBPc.975+35C>G (n.975+35C>G)
c.921+35C>G (n.921+35C>G)
c.222+35C>G (n.222+35C>G)
 dbSNP
16g.3810570G>ACA7870544CREBBPc.975+33C>T (n.975+33C>T)
c.921+33C>T (n.921+33C>T)
c.222+33C>T (n.222+33C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810570G=CA2202971797CREBBPc.975+33C= (n.975+33C=)
c.921+33C= (n.921+33C=)
c.222+33C= (n.222+33C=)
16g.3810571A>GCA2631429537CREBBPc.975+32T>C (n.975+32T>C)
c.921+32T>C (n.921+32T>C)
c.222+32T>C (n.222+32T>C)
 gnomAD v4
16g.3810572G>ACA277007689CREBBPc.975+31C>T (n.975+31C>T)
c.921+31C>T (n.921+31C>T)
c.222+31C>T (n.222+31C>T)
 dbSNP gnomAD v4
16g.3810572G=CA2202971798CREBBPc.975+31C= (n.975+31C=)
c.921+31C= (n.921+31C=)
c.222+31C= (n.222+31C=)
16g.3810573C>ACA2631429538CREBBPc.975+30G>T (n.975+30G>T)
c.921+30G>T (n.921+30G>T)
c.222+30G>T (n.222+30G>T)
 gnomAD v4
16g.3810573C=CA2202971799CREBBPc.975+30G= (n.975+30G=)
c.921+30G= (n.921+30G=)
c.222+30G= (n.222+30G=)
16g.3810573C>GCA620714700CREBBPc.975+30G>C (n.975+30G>C)
c.921+30G>C (n.921+30G>C)
c.222+30G>C (n.222+30G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3810575A=CA2202971800CREBBPc.975+28T= (n.975+28T=)
c.921+28T= (n.921+28T=)
c.222+28T= (n.222+28T=)
16g.3810575A>CCA7870546CREBBPc.975+28T>G (n.975+28T>G)
c.921+28T>G (n.921+28T>G)
c.222+28T>G (n.222+28T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3810575A>GCA7870545CREBBPc.975+28T>C (n.975+28T>C)
c.921+28T>C (n.921+28T>C)
c.222+28T>C (n.222+28T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810576T>CCA973923588CREBBPc.975+27A>G (n.975+27A>G)
c.921+27A>G (n.921+27A>G)
c.222+27A>G (n.222+27A>G)
 dbSNP gnomAD v3 gnomAD v4
16g.3810576T=CA2202971801CREBBPc.975+27A= (n.975+27A=)
c.921+27A= (n.921+27A=)
c.222+27A= (n.222+27A=)
16g.3810576dupCA7870547CREBBPc.975+27dup (n.975+27dup)
c.921+27dup (n.921+27dup)
c.222+27dup (n.222+27dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3810581C>ACA620714701CREBBPc.975+22G>T (n.975+22G>T)
c.921+22G>T (n.921+22G>T)
c.222+22G>T (n.222+22G>T)
 dbSNP gnomAD v2 gnomAD v4
16g.3810581C=CA2202971802CREBBPc.975+22G= (n.975+22G=)
c.921+22G= (n.921+22G=)
c.222+22G= (n.222+22G=)
16g.3810582T>CCA2202971804CREBBPc.975+21A>G (n.975+21A>G)
c.921+21A>G (n.921+21A>G)
c.222+21A>G (n.222+21A>G)
 dbSNP
16g.3810582T=CA2202971803CREBBPc.975+21A= (n.975+21A=)
c.921+21A= (n.921+21A=)
c.222+21A= (n.222+21A=)
16g.3810584A>TCA2731708492CREBBPc.975+19T>A (n.975+19T>A)
c.921+19T>A (n.921+19T>A)
c.222+19T>A (n.222+19T>A)
 dbSNP
16g.3810585G>ACA2631429539CREBBPc.975+18C>T (n.975+18C>T)
c.921+18C>T (n.921+18C>T)
c.222+18C>T (n.222+18C>T)
 gnomAD v4
16g.3810586G>ACA620714702CREBBPc.975+17C>T (n.975+17C>T)
c.921+17C>T (n.921+17C>T)
c.222+17C>T (n.222+17C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.3810586G=CA2202971805CREBBPc.975+17C= (n.975+17C=)
c.921+17C= (n.921+17C=)
c.222+17C= (n.222+17C=)
16g.3810586G>TCA2631429540CREBBPc.975+17C>A (n.975+17C>A)
c.921+17C>A (n.921+17C>A)
c.222+17C>A (n.222+17C>A)
 gnomAD v4
16g.3810588C>TCA2631429541CREBBPc.975+15G>A (n.975+15G>A)
c.921+15G>A (n.921+15G>A)
c.222+15G>A (n.222+15G>A)
 gnomAD v4
16g.3810589C=CA2202971806CREBBPc.975+14G= (n.975+14G=)
c.921+14G= (n.921+14G=)
c.222+14G= (n.222+14G=)
16g.3810589C>TCA7870548CREBBPc.975+14G>A (n.975+14G>A)
c.921+14G>A (n.921+14G>A)
c.222+14G>A (n.222+14G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810592G>ACA620714703CREBBPc.975+11C>T (n.975+11C>T)
c.921+11C>T (n.921+11C>T)
c.222+11C>T (n.222+11C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3810592G>CCA2575918626CREBBPc.975+11C>G (n.975+11C>G)
c.921+11C>G (n.921+11C>G)
c.222+11C>G (n.222+11C>G)
 gnomAD v4
16g.3810592G=CA2202971807CREBBPc.975+11C= (n.975+11C=)
c.921+11C= (n.921+11C=)
c.222+11C= (n.222+11C=)
16g.3810593G>ACA2631429542CREBBPc.975+10C>T (n.975+10C>T)
c.921+10C>T (n.921+10C>T)
c.222+10C>T (n.222+10C>T)
 gnomAD v4
16g.3810594G>ACA7870549CREBBPc.975+9C>T (n.975+9C>T)
c.921+9C>T (n.921+9C>T)
c.222+9C>T (n.222+9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3810594G=CA2202971808CREBBPc.975+9C= (n.975+9C=)
c.921+9C= (n.921+9C=)
c.222+9C= (n.222+9C=)
16g.3810594G>TCA7870550CREBBPc.975+9C>A (n.975+9C>A)
c.921+9C>A (n.921+9C>A)
c.222+9C>A (n.222+9C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3810596A=CA2202971809CREBBPc.975+7T= (n.975+7T=)
c.921+7T= (n.921+7T=)
c.222+7T= (n.222+7T=)
16g.3810596A>GCA720701103CREBBPc.975+7T>C (n.975+7T>C)
c.921+7T>C (n.921+7T>C)
c.222+7T>C (n.222+7T>C)
 dbSNP
16g.3810597A=CA2202971810CREBBPc.975+6T= (n.975+6T=)
c.921+6T= (n.921+6T=)
c.222+6T= (n.222+6T=)
16g.3810597A>GCA7870551CREBBPc.975+6T>C (n.975+6T>C)
c.921+6T>C (n.921+6T>C)
c.222+6T>C (n.222+6T>C)
 dbSNP ExAC gnomAD v2
16g.3810598delCA2731708501CREBBPc.975+5del (n.975+5del)
c.921+5del (n.921+5del)
c.222+5del (n.222+5del)
 dbSNP
16g.3810599T>ACA2731708502CREBBPc.975+4A>T (n.975+4A>T)
c.921+4A>T (n.921+4A>T)
c.222+4A>T (n.222+4A>T)
 dbSNP
16g.3810600T>CCA7870552CREBBPc.975+3A>G (n.975+3A>G)
c.921+3A>G (n.921+3A>G)
c.222+3A>G (n.222+3A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810600T=CA2202971811CREBBPc.975+3A= (n.975+3A=)
c.921+3A= (n.921+3A=)
c.222+3A= (n.222+3A=)
16g.3810601A>CCA394565828CREBBPc.975+2T>G (n.975+2T>G)
c.921+2T>G (n.921+2T>G)
c.222+2T>G (n.222+2T>G)
16g.3810601A>GCA394565829CREBBPc.975+2T>C (n.975+2T>C)
c.921+2T>C (n.921+2T>C)
c.222+2T>C (n.222+2T>C)
16g.3810601A>TCA394565830CREBBPc.975+2T>A (n.975+2T>A)
c.921+2T>A (n.921+2T>A)
c.222+2T>A (n.222+2T>A)
16g.3810601dupCA2631429543CREBBPc.975+2dup (n.975+2dup)
c.921+2dup (n.921+2dup)
c.222+2dup (n.222+2dup)
 gnomAD v4
16g.3810602C>ACA394565831CREBBPc.975+1G>T (n.975+1G>T)
c.921+1G>T (n.921+1G>T)
c.222+1G>T (n.222+1G>T)
16g.3810602C>GCA394565832CREBBPc.975+1G>C (n.975+1G>C)
c.921+1G>C (n.921+1G>C)
c.222+1G>C (n.222+1G>C)
16g.3810602C>TCA394565833CREBBPc.975+1G>A (n.975+1G>A)
c.921+1G>A (n.921+1G>A)
c.222+1G>A (n.222+1G>A)
 dbSNP
16g.3810603C>ACA394565834CREBBPc.975G>T (p.Met325Ile)
c.921G>T (p.Met307Ile)
c.222G>T (p.Met74Ile)
16g.3810603C=CA2202971812CREBBPc.975G= (p.Met325=)
c.921G= (p.Met307=)
c.222G= (p.Met74=)
16g.3810603C>GCA394565835CREBBPc.975G>C (p.Met325Ile)
c.921G>C (p.Met307Ile)
c.222G>C (p.Met74Ile)
16g.3810603C>TCA394565836CREBBPc.975G>A (p.Met325Ile)
c.921G>A (p.Met307Ile)
c.222G>A (p.Met74Ile)
16g.3810604A=CA2202971813CREBBPc.974T= (p.Met325=)
c.920T= (p.Met307=)
c.221T= (p.Met74=)
16g.3810604A>CCA394565837CREBBPc.974T>G (p.Met325Arg)
c.920T>G (p.Met307Arg)
c.221T>G (p.Met74Arg)
16g.3810604A>GCA277007724CREBBPc.974T>C (p.Met325Thr)
c.920T>C (p.Met307Thr)
c.221T>C (p.Met74Thr)
 dbSNP gnomAD v4
16g.3810604A>TCA394565838CREBBPc.974T>A (p.Met325Lys)
c.920T>A (p.Met307Lys)
c.221T>A (p.Met74Lys)
16g.3810604_3810611dupCA915949054CREBBPc.967_974dup (p.Met325IlefsTer32)
c.913_920dup (p.Met307IlefsTer32)
c.214_221dup (p.Met74IlefsTer32)
 ClinVar dbSNP
16g.3810605T>ACA7870553CREBBPc.973A>T (p.Met325Leu)
c.919A>T (p.Met307Leu)
c.220A>T (p.Met74Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.3810605T>CCA394565840CREBBPc.973A>G (p.Met325Val)
c.919A>G (p.Met307Val)
c.220A>G (p.Met74Val)
 gnomAD v4
16g.3810605T>GCA394565839CREBBPc.973A>C (p.Met325Leu)
c.919A>C (p.Met307Leu)
c.220A>C (p.Met74Leu)
16g.3810605T=CA2202971814CREBBPc.973A= (p.Met325=)
c.919A= (p.Met307=)
c.220A= (p.Met74=)
16g.3810606A>CCA394565841CREBBPc.972T>G (p.Asn324Lys)
c.918T>G (p.Asn306Lys)
c.219T>G (p.Asn73Lys)
16g.3810606A>GCA493277578CREBBPc.972T>C (p.Asn324=)
c.918T>C (p.Asn306=)
c.219T>C (p.Asn73=)
16g.3810606A>TCA394565842CREBBPc.972T>A (p.Asn324Lys)
c.918T>A (p.Asn306Lys)
c.219T>A (p.Asn73Lys)
16g.3810607T>ACA394565843CREBBPc.971A>T (p.Asn324Ile)
c.917A>T (p.Asn306Ile)
c.218A>T (p.Asn73Ile)
16g.3810607T>CCA394565844CREBBPc.971A>G (p.Asn324Ser)
c.917A>G (p.Asn306Ser)
c.218A>G (p.Asn73Ser)
16g.3810607T>GCA394565845CREBBPc.971A>C (p.Asn324Thr)
c.917A>C (p.Asn306Thr)
c.218A>C (p.Asn73Thr)
16g.3810608T>ACA394565846CREBBPc.970A>T (p.Asn324Tyr)
c.916A>T (p.Asn306Tyr)
c.217A>T (p.Asn73Tyr)
16g.3810608T>CCA394565847CREBBPc.970A>G (p.Asn324Asp)
c.916A>G (p.Asn306Asp)
c.217A>G (p.Asn73Asp)
16g.3810608T>GCA394565848CREBBPc.970A>C (p.Asn324His)
c.916A>C (p.Asn306His)
c.217A>C (p.Asn73His)
16g.3810609T>ACA493277581CREBBPc.969A>T (p.Pro323=)
c.915A>T (p.Pro305=)
c.216A>T (p.Pro72=)
16g.3810609T>CCA493277580CREBBPc.969A>G (p.Pro323=)
c.915A>G (p.Pro305=)
c.216A>G (p.Pro72=)
 gnomAD v4
16g.3810609T>GCA493277579CREBBPc.969A>C (p.Pro323=)
c.915A>C (p.Pro305=)
c.216A>C (p.Pro72=)
16g.3810610G>ACA394565849CREBBPc.968C>T (p.Pro323Leu)
c.914C>T (p.Pro305Leu)
c.215C>T (p.Pro72Leu)
16g.3810610G>CCA394565850CREBBPc.968C>G (p.Pro323Arg)
c.914C>G (p.Pro305Arg)
c.215C>G (p.Pro72Arg)
16g.3810610G>TCA394565851CREBBPc.968C>A (p.Pro323Gln)
c.914C>A (p.Pro305Gln)
c.215C>A (p.Pro72Gln)
16g.3810611G>ACA7870554CREBBPc.967C>T (p.Pro323Ser)
c.913C>T (p.Pro305Ser)
c.214C>T (p.Pro72Ser)
 dbSNP ExAC gnomAD v2
16g.3810611G>CCA394565853CREBBPc.967C>G (p.Pro323Ala)
c.913C>G (p.Pro305Ala)
c.214C>G (p.Pro72Ala)
16g.3810611G=CA2202971815CREBBPc.967C= (p.Pro323=)
c.913C= (p.Pro305=)
c.214C= (p.Pro72=)
16g.3810611G>TCA394565852CREBBPc.967C>A (p.Pro323Thr)
c.913C>A (p.Pro305Thr)
c.214C>A (p.Pro72Thr)
16g.3810612C>ACA493277582CREBBPc.966G>T (p.Val322=)
c.912G>T (p.Val304=)
c.213G>T (p.Val71=)
16g.3810612C=CA2202971816CREBBPc.966G= (p.Val322=)
c.912G= (p.Val304=)
c.213G= (p.Val71=)
16g.3810612C>GCA493277583CREBBPc.966G>C (p.Val322=)
c.912G>C (p.Val304=)
c.213G>C (p.Val71=)
16g.3810612C>TCA277007729CREBBPc.966G>A (p.Val322=)
c.912G>A (p.Val304=)
c.213G>A (p.Val71=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3810613A>CCA394565856CREBBPc.965T>G (p.Val322Gly)
c.911T>G (p.Val304Gly)
c.212T>G (p.Val71Gly)
16g.3810613A>GCA394565854CREBBPc.965T>C (p.Val322Ala)
c.911T>C (p.Val304Ala)
c.212T>C (p.Val71Ala)
16g.3810613A>TCA394565855CREBBPc.965T>A (p.Val322Glu)
c.911T>A (p.Val304Glu)
c.212T>A (p.Val71Glu)
16g.3810614C>ACA277007734CREBBPc.964G>T (p.Val322Leu)
c.910G>T (p.Val304Leu)
c.211G>T (p.Val71Leu)
 dbSNP
16g.3810614C=CA2202971817CREBBPc.964G= (p.Val322=)
c.910G= (p.Val304=)
c.211G= (p.Val71=)
16g.3810614C>GCA158190CREBBPc.964G>C (p.Val322Leu)
c.910G>C (p.Val304Leu)
c.211G>C (p.Val71Leu)
 ClinVar dbSNP
16g.3810614C>TCA277007739CREBBPc.964G>A (p.Val322Met)
c.910G>A (p.Val304Met)
c.211G>A (p.Val71Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3810615G>ACA7870555CREBBPc.963C>T (p.Asn321=)
c.909C>T (p.Asn303=)
c.210C>T (p.Asn70=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810615G>CCA394565858CREBBPc.963C>G (p.Asn321Lys)
c.909C>G (p.Asn303Lys)
c.210C>G (p.Asn70Lys)
16g.3810615G=CA2202971818CREBBPc.963C= (p.Asn321=)
c.909C= (p.Asn303=)
c.210C= (p.Asn70=)
16g.3810615G>TCA394565857CREBBPc.963C>A (p.Asn321Lys)
c.909C>A (p.Asn303Lys)
c.210C>A (p.Asn70Lys)
 gnomAD v4
16g.3810616T>ACA394565859CREBBPc.962A>T (p.Asn321Ile)
c.908A>T (p.Asn303Ile)
c.209A>T (p.Asn70Ile)
16g.3810616T>CCA7870556CREBBPc.962A>G (p.Asn321Ser)
c.908A>G (p.Asn303Ser)
c.209A>G (p.Asn70Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810616T>GCA394565860CREBBPc.962A>C (p.Asn321Thr)
c.908A>C (p.Asn303Thr)
c.209A>C (p.Asn70Thr)
16g.3810616T=CA2202971819CREBBPc.962A= (p.Asn321=)
c.908A= (p.Asn303=)
c.209A= (p.Asn70=)
16g.3810617T>ACA394565861CREBBPc.961A>T (p.Asn321Tyr)
c.907A>T (p.Asn303Tyr)
c.208A>T (p.Asn70Tyr)
16g.3810617T>CCA394565862CREBBPc.961A>G (p.Asn321Asp)
c.907A>G (p.Asn303Asp)
c.208A>G (p.Asn70Asp)
16g.3810617T>GCA394565863CREBBPc.961A>C (p.Asn321His)
c.907A>C (p.Asn303His)
c.208A>C (p.Asn70His)
 dbSNP
16g.3810619_3810625delCA2695222698CREBBPc.955_961del (p.Val319ThrfsTer?)
c.901_907del (p.Val301ThrfsTer?)
c.202_208del (p.Val68ThrfsTer?)
16g.3810618G>ACA277007748CREBBPc.960C>T (p.Thr320=)
c.906C>T (p.Thr302=)
c.207C>T (p.Thr69=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3810618G>CCA493277585CREBBPc.960C>G (p.Thr320=)
c.906C>G (p.Thr302=)
c.207C>G (p.Thr69=)
16g.3810618G=CA2202971820CREBBPc.960C= (p.Thr320=)
c.906C= (p.Thr302=)
c.207C= (p.Thr69=)
16g.3810618G>TCA493277584CREBBPc.960C>A (p.Thr320=)
c.906C>A (p.Thr302=)
c.207C>A (p.Thr69=)
16g.3810619G>ACA394565864CREBBPc.959C>T (p.Thr320Ile)
c.905C>T (p.Thr302Ile)
c.206C>T (p.Thr69Ile)
 dbSNP gnomAD v2 gnomAD v4
16g.3810619G>CCA394565866CREBBPc.959C>G (p.Thr320Ser)
c.905C>G (p.Thr302Ser)
c.206C>G (p.Thr69Ser)
 ClinVar gnomAD v4
16g.3810619G=CA2202971821CREBBPc.959C= (p.Thr320=)
c.905C= (p.Thr302=)
c.206C= (p.Thr69=)
16g.3810619G>TCA394565865CREBBPc.959C>A (p.Thr320Asn)
c.905C>A (p.Thr302Asn)
c.206C>A (p.Thr69Asn)
16g.3810620T>ACA394565867CREBBPc.958A>T (p.Thr320Ser)
c.904A>T (p.Thr302Ser)
c.205A>T (p.Thr69Ser)
16g.3810620T>CCA394565868CREBBPc.958A>G (p.Thr320Ala)
c.904A>G (p.Thr302Ala)
c.205A>G (p.Thr69Ala)
16g.3810620T>GCA394565869CREBBPc.958A>C (p.Thr320Pro)
c.904A>C (p.Thr302Pro)
c.205A>C (p.Thr69Pro)
16g.3810620_3810623delinsTGACCA2202971822CREBBPc.955_958delinsGTCA (p.Val319=)
c.901_904delinsGTCA (p.Val301=)
c.202_205delinsGTCA (p.Val68=)
16g.3810621G>ACA493277587CREBBPc.957C>T (p.Val319=)
c.903C>T (p.Val301=)
c.204C>T (p.Val68=)
16g.3810621G>CCA493277588CREBBPc.957C>G (p.Val319=)
c.903C>G (p.Val301=)
c.204C>G (p.Val68=)
16g.3810621G>TCA493277589CREBBPc.957C>A (p.Val319=)
c.903C>A (p.Val301=)
c.204C>A (p.Val68=)
16g.3810621_3810623delCA493277590CREBBPc.955_957del (p.Val319del)
c.901_903del (p.Val301del)
c.202_204del (p.Val68del)
 dbSNP gnomAD v4
16g.3810622A>CCA394565870CREBBPc.956T>G (p.Val319Gly)
c.902T>G (p.Val301Gly)
c.203T>G (p.Val68Gly)
16g.3810622A>GCA394565871CREBBPc.956T>C (p.Val319Ala)
c.902T>C (p.Val301Ala)
c.203T>C (p.Val68Ala)
16g.3810622A>TCA394565872CREBBPc.956T>A (p.Val319Asp)
c.902T>A (p.Val301Asp)
c.203T>A (p.Val68Asp)
16g.3810623C>ACA394565873CREBBPc.955G>T (p.Val319Phe)
c.901G>T (p.Val301Phe)
c.202G>T (p.Val68Phe)
 dbSNP gnomAD v3 gnomAD v4
16g.3810623C=CA2202971823CREBBPc.955G= (p.Val319=)
c.901G= (p.Val301=)
c.202G= (p.Val68=)
16g.3810623C>GCA394565874CREBBPc.955G>C (p.Val319Leu)
c.901G>C (p.Val301Leu)
c.202G>C (p.Val68Leu)
 dbSNP
16g.3810623C>TCA394565875CREBBPc.955G>A (p.Val319Ile)
c.901G>A (p.Val301Ile)
c.202G>A (p.Val68Ile)
 ClinVar
16g.3810624T>ACA493277591CREBBPc.954A>T (p.Ser318=)
c.900A>T (p.Ser300=)
c.201A>T (p.Ser67=)
16g.3810624T>CCA493277592CREBBPc.954A>G (p.Ser318=)
c.900A>G (p.Ser300=)
c.201A>G (p.Ser67=)
 gnomAD v4
16g.3810624T>GCA493277593CREBBPc.954A>C (p.Ser318=)
c.900A>C (p.Ser300=)
c.201A>C (p.Ser67=)
 dbSNP gnomAD v2 gnomAD v4
16g.3810624T=CA2202971824CREBBPc.954A= (p.Ser318=)
c.900A= (p.Ser300=)
c.201A= (p.Ser67=)
16g.3810625G>ACA394565876CREBBPc.953C>T (p.Ser318Leu)
c.899C>T (p.Ser300Leu)
c.200C>T (p.Ser67Leu)
 dbSNP
16g.3810625G>CCA394565877CREBBPc.953C>G (p.Ser318Ter)
c.899C>G (p.Ser300Ter)
c.200C>G (p.Ser67Ter)
16g.3810625G=CA2202971825CREBBPc.953C= (p.Ser318=)
c.899C= (p.Ser300=)
c.200C= (p.Ser67=)
16g.3810625G>TCA271443CREBBPc.953C>A (p.Ser318Ter)
c.899C>A (p.Ser300Ter)
c.200C>A (p.Ser67Ter)
 ClinVar dbSNP
16g.3810626A=CA2202971826CREBBPc.952T= (p.Ser318=)
c.898T= (p.Ser300=)
c.199T= (p.Ser67=)
16g.3810626A>CCA394565878CREBBPc.952T>G (p.Ser318Ala)
c.898T>G (p.Ser300Ala)
c.199T>G (p.Ser67Ala)
16g.3810626A>GCA394565879CREBBPc.952T>C (p.Ser318Pro)
c.898T>C (p.Ser300Pro)
c.199T>C (p.Ser67Pro)
16g.3810626A>TCA277007759CREBBPc.952T>A (p.Ser318Thr)
c.898T>A (p.Ser300Thr)
c.199T>A (p.Ser67Thr)
 dbSNP gnomAD v3 gnomAD v4
16g.3810627A=CA2202971827CREBBPc.951T= (p.Thr317=)
c.897T= (p.Thr299=)
c.198T= (p.Thr66=)
16g.3810627A>CCA7870557CREBBPc.951T>G (p.Thr317=)
c.897T>G (p.Thr299=)
c.198T>G (p.Thr66=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810627A>GCA493277595CREBBPc.951T>C (p.Thr317=)
c.897T>C (p.Thr299=)
c.198T>C (p.Thr66=)
16g.3810627A>TCA493277594CREBBPc.951T>A (p.Thr317=)
c.897T>A (p.Thr299=)
c.198T>A (p.Thr66=)
16g.3810628G>ACA394565882CREBBPc.950C>T (p.Thr317Ile)
c.896C>T (p.Thr299Ile)
c.197C>T (p.Thr66Ile)
 dbSNP gnomAD v4
16g.3810628G>CCA394565880CREBBPc.950C>G (p.Thr317Ser)
c.896C>G (p.Thr299Ser)
c.197C>G (p.Thr66Ser)
16g.3810628G=CA2202971828CREBBPc.950C= (p.Thr317=)
c.896C= (p.Thr299=)
c.197C= (p.Thr66=)
16g.3810628G>TCA394565881CREBBPc.950C>A (p.Thr317Asn)
c.896C>A (p.Thr299Asn)
c.197C>A (p.Thr66Asn)
16g.3810629T>ACA394565883CREBBPc.949A>T (p.Thr317Ser)
c.895A>T (p.Thr299Ser)
c.196A>T (p.Thr66Ser)
16g.3810629T>CCA394565884CREBBPc.949A>G (p.Thr317Ala)
c.895A>G (p.Thr299Ala)
c.196A>G (p.Thr66Ala)
16g.3810629T>GCA394565885CREBBPc.949A>C (p.Thr317Pro)
c.895A>C (p.Thr299Pro)
c.196A>C (p.Thr66Pro)
16g.3810630A>CCA394565886CREBBPc.948T>G (p.Asn316Lys)
c.894T>G (p.Asn298Lys)
c.195T>G (p.Asn65Lys)
16g.3810630A>GCA493277598CREBBPc.948T>C (p.Asn316=)
c.894T>C (p.Asn298=)
c.195T>C (p.Asn65=)
16g.3810630A>TCA394565887CREBBPc.948T>A (p.Asn316Lys)
c.894T>A (p.Asn298Lys)
c.195T>A (p.Asn65Lys)
16g.3810631T>ACA394565888CREBBPc.947A>T (p.Asn316Ile)
c.893A>T (p.Asn298Ile)
c.194A>T (p.Asn65Ile)
16g.3810631T>CCA394565889CREBBPc.947A>G (p.Asn316Ser)
c.893A>G (p.Asn298Ser)
c.194A>G (p.Asn65Ser)
16g.3810631T>GCA394565890CREBBPc.947A>C (p.Asn316Thr)
c.893A>C (p.Asn298Thr)
c.194A>C (p.Asn65Thr)
16g.3810632T>ACA394565891CREBBPc.946A>T (p.Asn316Tyr)
c.892A>T (p.Asn298Tyr)
c.193A>T (p.Asn65Tyr)
16g.3810632T>CCA394565892CREBBPc.946A>G (p.Asn316Asp)
c.892A>G (p.Asn298Asp)
c.193A>G (p.Asn65Asp)
16g.3810632T>GCA394565893CREBBPc.946A>C (p.Asn316His)
c.892A>C (p.Asn298His)
c.193A>C (p.Asn65His)
16g.3810633C>ACA394565894CREBBPc.945G>T (p.Lys315Asn)
c.891G>T (p.Lys297Asn)
c.192G>T (p.Lys64Asn)
 gnomAD v4
16g.3810633C=CA2202971829CREBBPc.945G= (p.Lys315=)
c.891G= (p.Lys297=)
c.192G= (p.Lys64=)
16g.3810633C>GCA394565895CREBBPc.945G>C (p.Lys315Asn)
c.891G>C (p.Lys297Asn)
c.192G>C (p.Lys64Asn)
16g.3810633C>TCA7870558CREBBPc.945G>A (p.Lys315=)
c.891G>A (p.Lys297=)
c.192G>A (p.Lys64=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810634T>ACA394565896CREBBPc.944A>T (p.Lys315Met)
c.890A>T (p.Lys297Met)
c.191A>T (p.Lys64Met)
16g.3810634T>CCA7870559CREBBPc.944A>G (p.Lys315Arg)
c.890A>G (p.Lys297Arg)
c.191A>G (p.Lys64Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3810634T>GCA394565897CREBBPc.944A>C (p.Lys315Thr)
c.890A>C (p.Lys297Thr)
c.191A>C (p.Lys64Thr)
16g.3810634T=CA2202971830CREBBPc.944A= (p.Lys315=)
c.890A= (p.Lys297=)
c.191A= (p.Lys64=)
16g.3810635T>ACA394565898CREBBPc.943A>T (p.Lys315Ter)
c.889A>T (p.Lys297Ter)
c.190A>T (p.Lys64Ter)
16g.3810635T>CCA394565899CREBBPc.943A>G (p.Lys315Glu)
c.889A>G (p.Lys297Glu)
c.190A>G (p.Lys64Glu)
16g.3810635T>GCA394565900CREBBPc.943A>C (p.Lys315Gln)
c.889A>C (p.Lys297Gln)
c.190A>C (p.Lys64Gln)
16g.3810636delCA2731708671CREBBPc.942del (p.Lys315ArgfsTer?)
c.888del (p.Lys297ArgfsTer?)
c.189del (p.Lys64ArgfsTer?)
 dbSNP
16g.3810636G>ACA493277599CREBBPc.942C>T (p.Ile314=)
c.888C>T (p.Ile296=)
c.189C>T (p.Ile63=)
 COSMIC
16g.3810636G>CCA7870560CREBBPc.942C>G (p.Ile314Met)
c.888C>G (p.Ile296Met)
c.189C>G (p.Ile63Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3810636G=CA2202971831CREBBPc.942C= (p.Ile314=)
c.888C= (p.Ile296=)
c.189C= (p.Ile63=)
16g.3810636G>TCA493277600CREBBPc.942C>A (p.Ile314=)
c.888C>A (p.Ile296=)
c.189C>A (p.Ile63=)
16g.3810637A=CA2202971832CREBBPc.941T= (p.Ile314=)
c.887T= (p.Ile296=)
c.188T= (p.Ile63=)
16g.3810637A>CCA394565901CREBBPc.941T>G (p.Ile314Ser)
c.887T>G (p.Ile296Ser)
c.188T>G (p.Ile63Ser)
16g.3810637A>GCA7870561CREBBPc.941T>C (p.Ile314Thr)
c.887T>C (p.Ile296Thr)
c.188T>C (p.Ile63Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810637A>TCA394565902CREBBPc.941T>A (p.Ile314Asn)
c.887T>A (p.Ile296Asn)
c.188T>A (p.Ile63Asn)
16g.3810638T>ACA394565904CREBBPc.940A>T (p.Ile314Phe)
c.886A>T (p.Ile296Phe)
c.187A>T (p.Ile63Phe)
 gnomAD v4
16g.3810638T>CCA394565905CREBBPc.940A>G (p.Ile314Val)
c.886A>G (p.Ile296Val)
c.187A>G (p.Ile63Val)
16g.3810638T>GCA394565903CREBBPc.940A>C (p.Ile314Leu)
c.886A>C (p.Ile296Leu)
c.187A>C (p.Ile63Leu)
16g.3810639A=CA2202971833CREBBPc.939T= (p.Asp313=)
c.885T= (p.Asp295=)
c.186T= (p.Asp62=)
16g.3810639A>CCA394565906CREBBPc.939T>G (p.Asp313Glu)
c.885T>G (p.Asp295Glu)
c.186T>G (p.Asp62Glu)
 gnomAD v4
16g.3810639A>GCA148154CREBBPc.939T>C (p.Asp313=)
c.885T>C (p.Asp295=)
c.186T>C (p.Asp62=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810639A>TCA394565907CREBBPc.939T>A (p.Asp313Glu)
c.885T>A (p.Asp295Glu)
c.186T>A (p.Asp62Glu)
16g.3810640T>ACA394565908CREBBPc.938A>T (p.Asp313Val)
c.884A>T (p.Asp295Val)
c.185A>T (p.Asp62Val)
16g.3810640T>CCA394565909CREBBPc.938A>G (p.Asp313Gly)
c.884A>G (p.Asp295Gly)
c.185A>G (p.Asp62Gly)
16g.3810640T>GCA394565910CREBBPc.938A>C (p.Asp313Ala)
c.884A>C (p.Asp295Ala)
c.185A>C (p.Asp62Ala)
16g.3810641C>ACA394565911CREBBPc.937G>T (p.Asp313Tyr)
c.883G>T (p.Asp295Tyr)
c.184G>T (p.Asp62Tyr)
16g.3810641C>GCA394565912CREBBPc.937G>C (p.Asp313His)
c.883G>C (p.Asp295His)
c.184G>C (p.Asp62His)
16g.3810641C>TCA394565913CREBBPc.937G>A (p.Asp313Asn)
c.883G>A (p.Asp295Asn)
c.184G>A (p.Asp62Asn)
 gnomAD v4
16g.3810642T>ACA493277601CREBBPc.936A>T (p.Thr312=)
c.882A>T (p.Thr294=)
c.183A>T (p.Thr61=)
16g.3810642T>CCA493277602CREBBPc.936A>G (p.Thr312=)
c.882A>G (p.Thr294=)
c.183A>G (p.Thr61=)
16g.3810642T>GCA493277603CREBBPc.936A>C (p.Thr312=)
c.882A>C (p.Thr294=)
c.183A>C (p.Thr61=)
16g.3810643G>ACA394565914CREBBPc.935C>T (p.Thr312Ile)
c.881C>T (p.Thr294Ile)
c.182C>T (p.Thr61Ile)
 dbSNP gnomAD v4
16g.3810643G>CCA394565915CREBBPc.935C>G (p.Thr312Arg)
c.881C>G (p.Thr294Arg)
c.182C>G (p.Thr61Arg)
16g.3810643G=CA2202971834CREBBPc.935C= (p.Thr312=)
c.881C= (p.Thr294=)
c.182C= (p.Thr61=)
16g.3810643G>TCA394565916CREBBPc.935C>A (p.Thr312Lys)
c.881C>A (p.Thr294Lys)
c.182C>A (p.Thr61Lys)
16g.3810644T>ACA394565918CREBBPc.934A>T (p.Thr312Ser)
c.880A>T (p.Thr294Ser)
c.181A>T (p.Thr61Ser)
 dbSNP
16g.3810644T>CCA7870562CREBBPc.934A>G (p.Thr312Ala)
c.880A>G (p.Thr294Ala)
c.181A>G (p.Thr61Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.3810644T>GCA394565917CREBBPc.934A>C (p.Thr312Pro)
c.880A>C (p.Thr294Pro)
c.181A>C (p.Thr61Pro)
16g.3810644T=CA2202971835CREBBPc.934A= (p.Thr312=)
c.880A= (p.Thr294=)
c.181A= (p.Thr61=)
16g.3810645A=CA2202971836CREBBPc.933T= (p.Pro311=)
c.879T= (p.Pro293=)
c.180T= (p.Pro60=)
16g.3810645A>CCA493277604CREBBPc.933T>G (p.Pro311=)
c.879T>G (p.Pro293=)
c.180T>G (p.Pro60=)
16g.3810645A>GCA277007815CREBBPc.933T>C (p.Pro311=)
c.879T>C (p.Pro293=)
c.180T>C (p.Pro60=)
 dbSNP
16g.3810645A>TCA493277605CREBBPc.933T>A (p.Pro311=)
c.879T>A (p.Pro293=)
c.180T>A (p.Pro60=)
16g.3810646G>ACA394565919CREBBPc.932C>T (p.Pro311Leu)
c.878C>T (p.Pro293Leu)
c.179C>T (p.Pro60Leu)
16g.3810646G>CCA394565920CREBBPc.932C>G (p.Pro311Arg)
c.878C>G (p.Pro293Arg)
c.179C>G (p.Pro60Arg)
16g.3810646G>TCA394565921CREBBPc.932C>A (p.Pro311His)
c.878C>A (p.Pro293His)
c.179C>A (p.Pro60His)
16g.3810647G>ACA394565922CREBBPc.931C>T (p.Pro311Ser)
c.877C>T (p.Pro293Ser)
c.178C>T (p.Pro60Ser)
 dbSNP COSMIC
16g.3810647G>CCA394565923CREBBPc.931C>G (p.Pro311Ala)
c.877C>G (p.Pro293Ala)
c.178C>G (p.Pro60Ala)
16g.3810647G>TCA394565924CREBBPc.931C>A (p.Pro311Thr)
c.877C>A (p.Pro293Thr)
c.178C>A (p.Pro60Thr)
16g.3810648G>ACA493277606CREBBPc.930C>T (p.Phe310=)
c.876C>T (p.Phe292=)
c.177C>T (p.Phe59=)
 gnomAD v4
16g.3810648G>CCA394565925CREBBPc.930C>G (p.Phe310Leu)
c.876C>G (p.Phe292Leu)
c.177C>G (p.Phe59Leu)
16g.3810648G>TCA394565926CREBBPc.930C>A (p.Phe310Leu)
c.876C>A (p.Phe292Leu)
c.177C>A (p.Phe59Leu)
16g.3810649A>CCA394565927CREBBPc.929T>G (p.Phe310Cys)
c.875T>G (p.Phe292Cys)
c.176T>G (p.Phe59Cys)
16g.3810649A>GCA394565928CREBBPc.929T>C (p.Phe310Ser)
c.875T>C (p.Phe292Ser)
c.176T>C (p.Phe59Ser)
16g.3810649A>TCA394565929CREBBPc.929T>A (p.Phe310Tyr)
c.875T>A (p.Phe292Tyr)
c.176T>A (p.Phe59Tyr)
16g.3810650A>CCA394565930CREBBPc.928T>G (p.Phe310Val)
c.874T>G (p.Phe292Val)
c.175T>G (p.Phe59Val)
16g.3810650A>GCA394565931CREBBPc.928T>C (p.Phe310Leu)
c.874T>C (p.Phe292Leu)
c.175T>C (p.Phe59Leu)
 gnomAD v4
16g.3810650A>TCA394565932CREBBPc.928T>A (p.Phe310Ile)
c.874T>A (p.Phe292Ile)
c.175T>A (p.Phe59Ile)
16g.3810651G>ACA7870564CREBBPc.927C>T (p.Thr309=)
c.873C>T (p.Thr291=)
c.174C>T (p.Thr58=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810651G>CCA7870563CREBBPc.927C>G (p.Thr309=)
c.873C>G (p.Thr291=)
c.174C>G (p.Thr58=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3810651G=CA2202971837CREBBPc.927C= (p.Thr309=)
c.873C= (p.Thr291=)
c.174C= (p.Thr58=)
16g.3810651G>TCA493277607CREBBPc.927C>A (p.Thr309=)
c.873C>A (p.Thr291=)
c.174C>A (p.Thr58=)

Number of alleles fetched