Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3757804_3757807delCA2695222669CREBBPc.3609+2_3609+5del (n.3609+2_3609+5del)
c.3495+2_3495+5del (n.3495+2_3495+5del)
c.2214+2_2214+5del (n.2214+2_2214+5del)
c.3564+2_3564+5del (n.3564+2_3564+5del)
c.3192+2_3192+5del (n.3192+2_3192+5del)
c.3555+2_3555+5del (n.3555+2_3555+5del)
c.2856+2_2856+5del (n.2856+2_2856+5del)
c.3603+2_3603+5del (n.3603+2_3603+5del)
16g.3757806_3757812delCA2695222668CREBBPc.3608_3609+5del
c.3494_3495+5del
c.2213_2214+5del
c.3563_3564+5del
c.3191_3192+5del
c.3554_3555+5del
c.2855_2856+5del
c.3602_3603+5del
16g.3757807A>CCA394568529CREBBPc.3609+2T>G (n.3609+2T>G)
c.3495+2T>G (n.3495+2T>G)
c.2214+2T>G (n.2214+2T>G)
c.3564+2T>G (n.3564+2T>G)
c.3192+2T>G (n.3192+2T>G)
c.3555+2T>G (n.3555+2T>G)
c.2856+2T>G (n.2856+2T>G)
c.3603+2T>G (n.3603+2T>G)
16g.3757807A>GCA394568530CREBBPc.3609+2T>C (n.3609+2T>C)
c.3495+2T>C (n.3495+2T>C)
c.2214+2T>C (n.2214+2T>C)
c.3564+2T>C (n.3564+2T>C)
c.3192+2T>C (n.3192+2T>C)
c.3555+2T>C (n.3555+2T>C)
c.2856+2T>C (n.2856+2T>C)
c.3603+2T>C (n.3603+2T>C)
16g.3757807A>TCA394568531CREBBPc.3609+2T>A (n.3609+2T>A)
c.3495+2T>A (n.3495+2T>A)
c.2214+2T>A (n.2214+2T>A)
c.3564+2T>A (n.3564+2T>A)
c.3192+2T>A (n.3192+2T>A)
c.3555+2T>A (n.3555+2T>A)
c.2856+2T>A (n.2856+2T>A)
c.3603+2T>A (n.3603+2T>A)
16g.3757808C>ACA394568532CREBBPc.3609+1G>T (n.3609+1G>T)
c.3495+1G>T (n.3495+1G>T)
c.2214+1G>T (n.2214+1G>T)
c.3564+1G>T (n.3564+1G>T)
c.3192+1G>T (n.3192+1G>T)
c.3555+1G>T (n.3555+1G>T)
c.2856+1G>T (n.2856+1G>T)
c.3603+1G>T (n.3603+1G>T)
16g.3757808C=CA2202943142CREBBPc.3609+1G= (n.3609+1G=)
c.3495+1G= (n.3495+1G=)
c.2214+1G= (n.2214+1G=)
c.3564+1G= (n.3564+1G=)
c.3192+1G= (n.3192+1G=)
c.3555+1G= (n.3555+1G=)
c.2856+1G= (n.2856+1G=)
c.3603+1G= (n.3603+1G=)
16g.3757808C>GCA394568533CREBBPc.3609+1G>C (n.3609+1G>C)
c.3495+1G>C (n.3495+1G>C)
c.2214+1G>C (n.2214+1G>C)
c.3564+1G>C (n.3564+1G>C)
c.3192+1G>C (n.3192+1G>C)
c.3555+1G>C (n.3555+1G>C)
c.2856+1G>C (n.2856+1G>C)
c.3603+1G>C (n.3603+1G>C)
16g.3757808C>TCA10603394CREBBPc.3609+1G>A (n.3609+1G>A)
c.3495+1G>A (n.3495+1G>A)
c.2214+1G>A (n.2214+1G>A)
c.3564+1G>A (n.3564+1G>A)
c.3192+1G>A (n.3192+1G>A)
c.3555+1G>A (n.3555+1G>A)
c.2856+1G>A (n.2856+1G>A)
c.3603+1G>A (n.3603+1G>A)
 ClinVar dbSNP
16g.3757809C>ACA394568535CREBBPc.3609G>T (p.Lys1203Asn)
c.3495G>T (p.Lys1165Asn)
c.2214G>T (p.Lys738Asn)
c.3564G>T (p.Lys1188Asn)
c.3192G>T (p.Lys1064Asn)
c.3555G>T (p.Lys1185Asn)
c.2856G>T (p.Lys952Asn)
c.3603G>T (p.Lys1201Asn)
16g.3757809C>GCA394568534CREBBPc.3609G>C (p.Lys1203Asn)
c.3495G>C (p.Lys1165Asn)
c.2214G>C (p.Lys738Asn)
c.3564G>C (p.Lys1188Asn)
c.3192G>C (p.Lys1064Asn)
c.3555G>C (p.Lys1185Asn)
c.2856G>C (p.Lys952Asn)
c.3603G>C (p.Lys1201Asn)
16g.3757809C>TCA493285194CREBBPc.3609G>A (p.Lys1203=)
c.3495G>A (p.Lys1165=)
c.2214G>A (p.Lys738=)
c.3564G>A (p.Lys1188=)
c.3192G>A (p.Lys1064=)
c.3555G>A (p.Lys1185=)
c.2856G>A (p.Lys952=)
c.3603G>A (p.Lys1201=)
 COSMIC
16g.3757810T>ACA394568536CREBBPc.3608A>T (p.Lys1203Met)
c.3494A>T (p.Lys1165Met)
c.2213A>T (p.Lys738Met)
c.3563A>T (p.Lys1188Met)
c.3191A>T (p.Lys1064Met)
c.3554A>T (p.Lys1185Met)
c.2855A>T (p.Lys952Met)
c.3602A>T (p.Lys1201Met)
16g.3757810T>CCA394568537CREBBPc.3608A>G (p.Lys1203Arg)
c.3494A>G (p.Lys1165Arg)
c.2213A>G (p.Lys738Arg)
c.3563A>G (p.Lys1188Arg)
c.3191A>G (p.Lys1064Arg)
c.3554A>G (p.Lys1185Arg)
c.2855A>G (p.Lys952Arg)
c.3602A>G (p.Lys1201Arg)
16g.3757810T>GCA394568538CREBBPc.3608A>C (p.Lys1203Thr)
c.3494A>C (p.Lys1165Thr)
c.2213A>C (p.Lys738Thr)
c.3563A>C (p.Lys1188Thr)
c.3191A>C (p.Lys1064Thr)
c.3554A>C (p.Lys1185Thr)
c.2855A>C (p.Lys952Thr)
c.3602A>C (p.Lys1201Thr)
16g.3757811T>ACA394568539CREBBPc.3607A>T (p.Lys1203Ter)
c.3493A>T (p.Lys1165Ter)
c.2212A>T (p.Lys738Ter)
c.3562A>T (p.Lys1188Ter)
c.3190A>T (p.Lys1064Ter)
c.3553A>T (p.Lys1185Ter)
c.2854A>T (p.Lys952Ter)
c.3601A>T (p.Lys1201Ter)
16g.3757811T>CCA394568540CREBBPc.3607A>G (p.Lys1203Glu)
c.3493A>G (p.Lys1165Glu)
c.2212A>G (p.Lys738Glu)
c.3562A>G (p.Lys1188Glu)
c.3190A>G (p.Lys1064Glu)
c.3553A>G (p.Lys1185Glu)
c.2854A>G (p.Lys952Glu)
c.3601A>G (p.Lys1201Glu)
16g.3757811T>GCA394568541CREBBPc.3607A>C (p.Lys1203Gln)
c.3493A>C (p.Lys1165Gln)
c.2212A>C (p.Lys738Gln)
c.3562A>C (p.Lys1188Gln)
c.3190A>C (p.Lys1064Gln)
c.3553A>C (p.Lys1185Gln)
c.2854A>C (p.Lys952Gln)
c.3601A>C (p.Lys1201Gln)
16g.3757812G>ACA7869793CREBBPc.3606C>T (p.Arg1202=)
c.3492C>T (p.Arg1164=)
c.2211C>T (p.Arg737=)
c.3561C>T (p.Arg1187=)
c.3189C>T (p.Arg1063=)
c.3552C>T (p.Arg1184=)
c.2853C>T (p.Arg951=)
c.3600C>T (p.Arg1200=)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3757812G>CCA493285197CREBBPc.3606C>G (p.Arg1202=)
c.3492C>G (p.Arg1164=)
c.2211C>G (p.Arg737=)
c.3561C>G (p.Arg1187=)
c.3189C>G (p.Arg1063=)
c.3552C>G (p.Arg1184=)
c.2853C>G (p.Arg951=)
c.3600C>G (p.Arg1200=)
 dbSNP
16g.3757812G=CA2202943148CREBBPc.3606C= (p.Arg1202=)
c.3492C= (p.Arg1164=)
c.2211C= (p.Arg737=)
c.3561C= (p.Arg1187=)
c.3189C= (p.Arg1063=)
c.3552C= (p.Arg1184=)
c.2853C= (p.Arg951=)
c.3600C= (p.Arg1200=)
16g.3757812G>TCA276997856CREBBPc.3606C>A (p.Arg1202=)
c.3492C>A (p.Arg1164=)
c.2211C>A (p.Arg737=)
c.3561C>A (p.Arg1187=)
c.3189C>A (p.Arg1063=)
c.3552C>A (p.Arg1184=)
c.2853C>A (p.Arg951=)
c.3600C>A (p.Arg1200=)
 dbSNP gnomAD v4
16g.3757813C>ACA394568542CREBBPc.3605G>T (p.Arg1202Leu)
c.3491G>T (p.Arg1164Leu)
c.2210G>T (p.Arg737Leu)
c.3560G>T (p.Arg1187Leu)
c.3188G>T (p.Arg1063Leu)
c.3551G>T (p.Arg1184Leu)
c.2852G>T (p.Arg951Leu)
c.3599G>T (p.Arg1200Leu)
16g.3757813C=CA2202943151CREBBPc.3605G= (p.Arg1202=)
c.3491G= (p.Arg1164=)
c.2210G= (p.Arg737=)
c.3560G= (p.Arg1187=)
c.3188G= (p.Arg1063=)
c.3551G= (p.Arg1184=)
c.2852G= (p.Arg951=)
c.3599G= (p.Arg1200=)
16g.3757813C>GCA394568543CREBBPc.3605G>C (p.Arg1202Pro)
c.3491G>C (p.Arg1164Pro)
c.2210G>C (p.Arg737Pro)
c.3560G>C (p.Arg1187Pro)
c.3188G>C (p.Arg1063Pro)
c.3551G>C (p.Arg1184Pro)
c.2852G>C (p.Arg951Pro)
c.3599G>C (p.Arg1200Pro)
16g.3757813C>TCA7869794CREBBPc.3605G>A (p.Arg1202His)
c.3491G>A (p.Arg1164His)
c.2210G>A (p.Arg737His)
c.3560G>A (p.Arg1187His)
c.3188G>A (p.Arg1063His)
c.3551G>A (p.Arg1184His)
c.2852G>A (p.Arg951His)
c.3599G>A (p.Arg1200His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3757814G>ACA394568544CREBBPc.3604C>T (p.Arg1202Cys)
c.3490C>T (p.Arg1164Cys)
c.2209C>T (p.Arg737Cys)
c.3559C>T (p.Arg1187Cys)
c.3187C>T (p.Arg1063Cys)
c.3550C>T (p.Arg1184Cys)
c.2851C>T (p.Arg951Cys)
c.3598C>T (p.Arg1200Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.3757814G>CCA394568545CREBBPc.3604C>G (p.Arg1202Gly)
c.3490C>G (p.Arg1164Gly)
c.2209C>G (p.Arg737Gly)
c.3559C>G (p.Arg1187Gly)
c.3187C>G (p.Arg1063Gly)
c.3550C>G (p.Arg1184Gly)
c.2851C>G (p.Arg951Gly)
c.3598C>G (p.Arg1200Gly)
 dbSNP
16g.3757814G=CA2202943156CREBBPc.3604C= (p.Arg1202=)
c.3490C= (p.Arg1164=)
c.2209C= (p.Arg737=)
c.3559C= (p.Arg1187=)
c.3187C= (p.Arg1063=)
c.3550C= (p.Arg1184=)
c.2851C= (p.Arg951=)
c.3598C= (p.Arg1200=)
16g.3757814G>TCA394568546CREBBPc.3604C>A (p.Arg1202Ser)
c.3490C>A (p.Arg1164Ser)
c.2209C>A (p.Arg737Ser)
c.3559C>A (p.Arg1187Ser)
c.3187C>A (p.Arg1063Ser)
c.3550C>A (p.Arg1184Ser)
c.2851C>A (p.Arg951Ser)
c.3598C>A (p.Arg1200Ser)
16g.3757815T>ACA493285204CREBBPc.3603A>T (p.Gly1201=)
c.3489A>T (p.Gly1163=)
c.2208A>T (p.Gly736=)
c.3558A>T (p.Gly1186=)
c.3186A>T (p.Gly1062=)
c.3549A>T (p.Gly1183=)
c.2850A>T (p.Gly950=)
c.3597A>T (p.Gly1199=)
 dbSNP
16g.3757815T>CCA493285205CREBBPc.3603A>G (p.Gly1201=)
c.3489A>G (p.Gly1163=)
c.2208A>G (p.Gly736=)
c.3558A>G (p.Gly1186=)
c.3186A>G (p.Gly1062=)
c.3549A>G (p.Gly1183=)
c.2850A>G (p.Gly950=)
c.3597A>G (p.Gly1199=)
 gnomAD v4
16g.3757815T>GCA493285206CREBBPc.3603A>C (p.Gly1201=)
c.3489A>C (p.Gly1163=)
c.2208A>C (p.Gly736=)
c.3558A>C (p.Gly1186=)
c.3186A>C (p.Gly1062=)
c.3549A>C (p.Gly1183=)
c.2850A>C (p.Gly950=)
c.3597A>C (p.Gly1199=)
16g.3757816C>ACA394568547CREBBPc.3602G>T (p.Gly1201Val)
c.3488G>T (p.Gly1163Val)
c.2207G>T (p.Gly736Val)
c.3557G>T (p.Gly1186Val)
c.3185G>T (p.Gly1062Val)
c.3548G>T (p.Gly1183Val)
c.2849G>T (p.Gly950Val)
c.3596G>T (p.Gly1199Val)
16g.3757816C>GCA394568549CREBBPc.3602G>C (p.Gly1201Ala)
c.3488G>C (p.Gly1163Ala)
c.2207G>C (p.Gly736Ala)
c.3557G>C (p.Gly1186Ala)
c.3185G>C (p.Gly1062Ala)
c.3548G>C (p.Gly1183Ala)
c.2849G>C (p.Gly950Ala)
c.3596G>C (p.Gly1199Ala)
 dbSNP
16g.3757816C>TCA394568548CREBBPc.3602G>A (p.Gly1201Glu)
c.3488G>A (p.Gly1163Glu)
c.2207G>A (p.Gly736Glu)
c.3557G>A (p.Gly1186Glu)
c.3185G>A (p.Gly1062Glu)
c.3548G>A (p.Gly1183Glu)
c.2849G>A (p.Gly950Glu)
c.3596G>A (p.Gly1199Glu)
16g.3757817C>ACA394568550CREBBPc.3601G>T (p.Gly1201Ter)
c.3487G>T (p.Gly1163Ter)
c.2206G>T (p.Gly736Ter)
c.3556G>T (p.Gly1186Ter)
c.3184G>T (p.Gly1062Ter)
c.3547G>T (p.Gly1183Ter)
c.2848G>T (p.Gly950Ter)
c.3595G>T (p.Gly1199Ter)
16g.3757817C>GCA394568552CREBBPc.3601G>C (p.Gly1201Arg)
c.3487G>C (p.Gly1163Arg)
c.2206G>C (p.Gly736Arg)
c.3556G>C (p.Gly1186Arg)
c.3184G>C (p.Gly1062Arg)
c.3547G>C (p.Gly1183Arg)
c.2848G>C (p.Gly950Arg)
c.3595G>C (p.Gly1199Arg)
16g.3757817C>TCA394568551CREBBPc.3601G>A (p.Gly1201Arg)
c.3487G>A (p.Gly1163Arg)
c.2206G>A (p.Gly736Arg)
c.3556G>A (p.Gly1186Arg)
c.3184G>A (p.Gly1062Arg)
c.3547G>A (p.Gly1183Arg)
c.2848G>A (p.Gly950Arg)
c.3595G>A (p.Gly1199Arg)
16g.3757818A>CCA394568553CREBBPc.3600T>G (p.Cys1200Trp)
c.3486T>G (p.Cys1162Trp)
c.2205T>G (p.Cys735Trp)
c.3555T>G (p.Cys1185Trp)
c.3183T>G (p.Cys1061Trp)
c.3546T>G (p.Cys1182Trp)
c.2847T>G (p.Cys949Trp)
c.3594T>G (p.Cys1198Trp)
16g.3757818A>GCA493285209CREBBPc.3600T>C (p.Cys1200=)
c.3486T>C (p.Cys1162=)
c.2205T>C (p.Cys735=)
c.3555T>C (p.Cys1185=)
c.3183T>C (p.Cys1061=)
c.3546T>C (p.Cys1182=)
c.2847T>C (p.Cys949=)
c.3594T>C (p.Cys1198=)
16g.3757818A>TCA394568554CREBBPc.3600T>A (p.Cys1200Ter)
c.3486T>A (p.Cys1162Ter)
c.2205T>A (p.Cys735Ter)
c.3555T>A (p.Cys1185Ter)
c.3183T>A (p.Cys1061Ter)
c.3546T>A (p.Cys1182Ter)
c.2847T>A (p.Cys949Ter)
c.3594T>A (p.Cys1198Ter)
16g.3757819C>ACA394568555CREBBPc.3599G>T (p.Cys1200Phe)
c.3485G>T (p.Cys1162Phe)
c.2204G>T (p.Cys735Phe)
c.3554G>T (p.Cys1185Phe)
c.3182G>T (p.Cys1061Phe)
c.3545G>T (p.Cys1182Phe)
c.2846G>T (p.Cys949Phe)
c.3593G>T (p.Cys1198Phe)
16g.3757819C>GCA394568556CREBBPc.3599G>C (p.Cys1200Ser)
c.3485G>C (p.Cys1162Ser)
c.2204G>C (p.Cys735Ser)
c.3554G>C (p.Cys1185Ser)
c.3182G>C (p.Cys1061Ser)
c.3545G>C (p.Cys1182Ser)
c.2846G>C (p.Cys949Ser)
c.3593G>C (p.Cys1198Ser)
16g.3757819C>TCA394568557CREBBPc.3599G>A (p.Cys1200Tyr)
c.3485G>A (p.Cys1162Tyr)
c.2204G>A (p.Cys735Tyr)
c.3554G>A (p.Cys1185Tyr)
c.3182G>A (p.Cys1061Tyr)
c.3545G>A (p.Cys1182Tyr)
c.2846G>A (p.Cys949Tyr)
c.3593G>A (p.Cys1198Tyr)
 dbSNP COSMIC
16g.3757819_3757820delinsCACA2202943159CREBBPc.3598_3599delinsTG (p.Cys1200=)
c.3484_3485delinsTG (p.Cys1162=)
c.2203_2204delinsTG (p.Cys735=)
c.3553_3554delinsTG (p.Cys1185=)
c.3181_3182delinsTG (p.Cys1061=)
c.3544_3545delinsTG (p.Cys1182=)
c.2845_2846delinsTG (p.Cys949=)
c.3592_3593delinsTG (p.Cys1198=)
16g.3757820delCA1139664472CREBBPc.3598del (p.Cys1200ValfsTer?)
c.3484del (p.Cys1162ValfsTer?)
c.2203del (p.Cys735ValfsTer?)
c.3553del (p.Cys1185ValfsTer?)
c.3181del (p.Cys1061ValfsTer?)
c.3544del (p.Cys1182ValfsTer?)
c.2845del (p.Cys949ValfsTer?)
c.3592del (p.Cys1198ValfsTer?)
 ClinVar dbSNP
16g.3757820A>CCA394568558CREBBPc.3598T>G (p.Cys1200Gly)
c.3484T>G (p.Cys1162Gly)
c.2203T>G (p.Cys735Gly)
c.3553T>G (p.Cys1185Gly)
c.3181T>G (p.Cys1061Gly)
c.3544T>G (p.Cys1182Gly)
c.2845T>G (p.Cys949Gly)
c.3592T>G (p.Cys1198Gly)
16g.3757820A>GCA394568559CREBBPc.3598T>C (p.Cys1200Arg)
c.3484T>C (p.Cys1162Arg)
c.2203T>C (p.Cys735Arg)
c.3553T>C (p.Cys1185Arg)
c.3181T>C (p.Cys1061Arg)
c.3544T>C (p.Cys1182Arg)
c.2845T>C (p.Cys949Arg)
c.3592T>C (p.Cys1198Arg)
16g.3757820A>TCA394568560CREBBPc.3598T>A (p.Cys1200Ser)
c.3484T>A (p.Cys1162Ser)
c.2203T>A (p.Cys735Ser)
c.3553T>A (p.Cys1185Ser)
c.3181T>A (p.Cys1061Ser)
c.3544T>A (p.Cys1182Ser)
c.2845T>A (p.Cys949Ser)
c.3592T>A (p.Cys1198Ser)
16g.3757821G>ACA493394465CREBBPc.3597C>T (p.Cys1199=)
c.3483C>T (p.Cys1161=)
c.2202C>T (p.Cys734=)
c.3552C>T (p.Cys1184=)
c.3180C>T (p.Cys1060=)
c.3543C>T (p.Cys1181=)
c.2844C>T (p.Cys948=)
c.3591C>T (p.Cys1197=)
 dbSNP
16g.3757821G>CCA394568561CREBBPc.3597C>G (p.Cys1199Trp)
c.3483C>G (p.Cys1161Trp)
c.2202C>G (p.Cys734Trp)
c.3552C>G (p.Cys1184Trp)
c.3180C>G (p.Cys1060Trp)
c.3543C>G (p.Cys1181Trp)
c.2844C>G (p.Cys948Trp)
c.3591C>G (p.Cys1197Trp)
16g.3757821G>TCA394568562CREBBPc.3597C>A (p.Cys1199Ter)
c.3483C>A (p.Cys1161Ter)
c.2202C>A (p.Cys734Ter)
c.3552C>A (p.Cys1184Ter)
c.3180C>A (p.Cys1060Ter)
c.3543C>A (p.Cys1181Ter)
c.2844C>A (p.Cys948Ter)
c.3591C>A (p.Cys1197Ter)
16g.3757822C>ACA394568563CREBBPc.3596G>T (p.Cys1199Phe)
c.3482G>T (p.Cys1161Phe)
c.2201G>T (p.Cys734Phe)
c.3551G>T (p.Cys1184Phe)
c.3179G>T (p.Cys1060Phe)
c.3542G>T (p.Cys1181Phe)
c.2843G>T (p.Cys948Phe)
c.3590G>T (p.Cys1197Phe)
 dbSNP
16g.3757822C>GCA394568564CREBBPc.3596G>C (p.Cys1199Ser)
c.3482G>C (p.Cys1161Ser)
c.2201G>C (p.Cys734Ser)
c.3551G>C (p.Cys1184Ser)
c.3179G>C (p.Cys1060Ser)
c.3542G>C (p.Cys1181Ser)
c.2843G>C (p.Cys948Ser)
c.3590G>C (p.Cys1197Ser)
16g.3757822C>TCA394568565CREBBPc.3596G>A (p.Cys1199Tyr)
c.3482G>A (p.Cys1161Tyr)
c.2201G>A (p.Cys734Tyr)
c.3551G>A (p.Cys1184Tyr)
c.3179G>A (p.Cys1060Tyr)
c.3542G>A (p.Cys1181Tyr)
c.2843G>A (p.Cys948Tyr)
c.3590G>A (p.Cys1197Tyr)
 dbSNP
16g.3757823A>CCA394568566CREBBPc.3595T>G (p.Cys1199Gly)
c.3481T>G (p.Cys1161Gly)
c.2200T>G (p.Cys734Gly)
c.3550T>G (p.Cys1184Gly)
c.3178T>G (p.Cys1060Gly)
c.3541T>G (p.Cys1181Gly)
c.2842T>G (p.Cys948Gly)
c.3589T>G (p.Cys1197Gly)
16g.3757823A>GCA394568568CREBBPc.3595T>C (p.Cys1199Arg)
c.3481T>C (p.Cys1161Arg)
c.2200T>C (p.Cys734Arg)
c.3550T>C (p.Cys1184Arg)
c.3178T>C (p.Cys1060Arg)
c.3541T>C (p.Cys1181Arg)
c.2842T>C (p.Cys948Arg)
c.3589T>C (p.Cys1197Arg)
16g.3757823A>TCA394568567CREBBPc.3595T>A (p.Cys1199Ser)
c.3481T>A (p.Cys1161Ser)
c.2200T>A (p.Cys734Ser)
c.3550T>A (p.Cys1184Ser)
c.3178T>A (p.Cys1060Ser)
c.3541T>A (p.Cys1181Ser)
c.2842T>A (p.Cys948Ser)
c.3589T>A (p.Cys1197Ser)
16g.3757824A=CA2202943165CREBBPc.3594T= (p.Tyr1198=)
c.3480T= (p.Tyr1160=)
c.2199T= (p.Tyr733=)
c.3549T= (p.Tyr1183=)
c.3177T= (p.Tyr1059=)
c.3540T= (p.Tyr1180=)
c.2841T= (p.Tyr947=)
c.3588T= (p.Tyr1196=)
16g.3757824A>CCA394568569CREBBPc.3594T>G (p.Tyr1198Ter)
c.3480T>G (p.Tyr1160Ter)
c.2199T>G (p.Tyr733Ter)
c.3549T>G (p.Tyr1183Ter)
c.3177T>G (p.Tyr1059Ter)
c.3540T>G (p.Tyr1180Ter)
c.2841T>G (p.Tyr947Ter)
c.3588T>G (p.Tyr1196Ter)
16g.3757824A>GCA7869795CREBBPc.3594T>C (p.Tyr1198=)
c.3480T>C (p.Tyr1160=)
c.2199T>C (p.Tyr733=)
c.3549T>C (p.Tyr1183=)
c.3177T>C (p.Tyr1059=)
c.3540T>C (p.Tyr1180=)
c.2841T>C (p.Tyr947=)
c.3588T>C (p.Tyr1196=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3757824A>TCA394568570CREBBPc.3594T>A (p.Tyr1198Ter)
c.3480T>A (p.Tyr1160Ter)
c.2199T>A (p.Tyr733Ter)
c.3549T>A (p.Tyr1183Ter)
c.3177T>A (p.Tyr1059Ter)
c.3540T>A (p.Tyr1180Ter)
c.2841T>A (p.Tyr947Ter)
c.3588T>A (p.Tyr1196Ter)
16g.3757825T>ACA394568571CREBBPc.3593A>T (p.Tyr1198Phe)
c.3479A>T (p.Tyr1160Phe)
c.2198A>T (p.Tyr733Phe)
c.3548A>T (p.Tyr1183Phe)
c.3176A>T (p.Tyr1059Phe)
c.3539A>T (p.Tyr1180Phe)
c.2840A>T (p.Tyr947Phe)
c.3587A>T (p.Tyr1196Phe)
 dbSNP
16g.3757825T>CCA394568572CREBBPc.3593A>G (p.Tyr1198Cys)
c.3479A>G (p.Tyr1160Cys)
c.2198A>G (p.Tyr733Cys)
c.3548A>G (p.Tyr1183Cys)
c.3176A>G (p.Tyr1059Cys)
c.3539A>G (p.Tyr1180Cys)
c.2840A>G (p.Tyr947Cys)
c.3587A>G (p.Tyr1196Cys)
16g.3757825T>GCA394568573CREBBPc.3593A>C (p.Tyr1198Ser)
c.3479A>C (p.Tyr1160Ser)
c.2198A>C (p.Tyr733Ser)
c.3548A>C (p.Tyr1183Ser)
c.3176A>C (p.Tyr1059Ser)
c.3539A>C (p.Tyr1180Ser)
c.2840A>C (p.Tyr947Ser)
c.3587A>C (p.Tyr1196Ser)
16g.3757826A>CCA394568574CREBBPc.3592T>G (p.Tyr1198Asp)
c.3478T>G (p.Tyr1160Asp)
c.2197T>G (p.Tyr733Asp)
c.3547T>G (p.Tyr1183Asp)
c.3175T>G (p.Tyr1059Asp)
c.3538T>G (p.Tyr1180Asp)
c.2839T>G (p.Tyr947Asp)
c.3586T>G (p.Tyr1196Asp)
16g.3757826A>GCA394568575CREBBPc.3592T>C (p.Tyr1198His)
c.3478T>C (p.Tyr1160His)
c.2197T>C (p.Tyr733His)
c.3547T>C (p.Tyr1183His)
c.3175T>C (p.Tyr1059His)
c.3538T>C (p.Tyr1180His)
c.2839T>C (p.Tyr947His)
c.3586T>C (p.Tyr1196His)
16g.3757826A>TCA394568576CREBBPc.3592T>A (p.Tyr1198Asn)
c.3478T>A (p.Tyr1160Asn)
c.2197T>A (p.Tyr733Asn)
c.3547T>A (p.Tyr1183Asn)
c.3175T>A (p.Tyr1059Asn)
c.3538T>A (p.Tyr1180Asn)
c.2839T>A (p.Tyr947Asn)
c.3586T>A (p.Tyr1196Asn)
16g.3757827T>ACA276997857CREBBPc.3591A>T (p.Gly1197=)
c.3477A>T (p.Gly1159=)
c.2196A>T (p.Gly732=)
c.3546A>T (p.Gly1182=)
c.3174A>T (p.Gly1058=)
c.3537A>T (p.Gly1179=)
c.2838A>T (p.Gly946=)
c.3585A>T (p.Gly1195=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3757827T>CCA493394472CREBBPc.3591A>G (p.Gly1197=)
c.3477A>G (p.Gly1159=)
c.2196A>G (p.Gly732=)
c.3546A>G (p.Gly1182=)
c.3174A>G (p.Gly1058=)
c.3537A>G (p.Gly1179=)
c.2838A>G (p.Gly946=)
c.3585A>G (p.Gly1195=)
 gnomAD v4
16g.3757827T>GCA493394473CREBBPc.3591A>C (p.Gly1197=)
c.3477A>C (p.Gly1159=)
c.2196A>C (p.Gly732=)
c.3546A>C (p.Gly1182=)
c.3174A>C (p.Gly1058=)
c.3537A>C (p.Gly1179=)
c.2838A>C (p.Gly946=)
c.3585A>C (p.Gly1195=)
16g.3757827T=CA2202943169CREBBPc.3591A= (p.Gly1197=)
c.3477A= (p.Gly1159=)
c.2196A= (p.Gly732=)
c.3546A= (p.Gly1182=)
c.3174A= (p.Gly1058=)
c.3537A= (p.Gly1179=)
c.2838A= (p.Gly946=)
c.3585A= (p.Gly1195=)
16g.3757828C>ACA394568579CREBBPc.3590G>T (p.Gly1197Val)
c.3476G>T (p.Gly1159Val)
c.2195G>T (p.Gly732Val)
c.3545G>T (p.Gly1182Val)
c.3173G>T (p.Gly1058Val)
c.3536G>T (p.Gly1179Val)
c.2837G>T (p.Gly946Val)
c.3584G>T (p.Gly1195Val)
 dbSNP
16g.3757828C=CA2202943171CREBBPc.3590G= (p.Gly1197=)
c.3476G= (p.Gly1159=)
c.2195G= (p.Gly732=)
c.3545G= (p.Gly1182=)
c.3173G= (p.Gly1058=)
c.3536G= (p.Gly1179=)
c.2837G= (p.Gly946=)
c.3584G= (p.Gly1195=)
16g.3757828C>GCA394568578CREBBPc.3590G>C (p.Gly1197Ala)
c.3476G>C (p.Gly1159Ala)
c.2195G>C (p.Gly732Ala)
c.3545G>C (p.Gly1182Ala)
c.3173G>C (p.Gly1058Ala)
c.3536G>C (p.Gly1179Ala)
c.2837G>C (p.Gly946Ala)
c.3584G>C (p.Gly1195Ala)
 dbSNP
16g.3757828C>TCA394568577CREBBPc.3590G>A (p.Gly1197Glu)
c.3476G>A (p.Gly1159Glu)
c.2195G>A (p.Gly732Glu)
c.3545G>A (p.Gly1182Glu)
c.3173G>A (p.Gly1058Glu)
c.3536G>A (p.Gly1179Glu)
c.2837G>A (p.Gly946Glu)
c.3584G>A (p.Gly1195Glu)
 dbSNP gnomAD v3 gnomAD v4
16g.3757829C>ACA394568580CREBBPc.3589G>T (p.Gly1197Ter)
c.3475G>T (p.Gly1159Ter)
c.2194G>T (p.Gly732Ter)
c.3544G>T (p.Gly1182Ter)
c.3172G>T (p.Gly1058Ter)
c.3535G>T (p.Gly1179Ter)
c.2836G>T (p.Gly946Ter)
c.3583G>T (p.Gly1195Ter)
16g.3757829C=CA2202943176CREBBPc.3589G= (p.Gly1197=)
c.3475G= (p.Gly1159=)
c.2194G= (p.Gly732=)
c.3544G= (p.Gly1182=)
c.3172G= (p.Gly1058=)
c.3535G= (p.Gly1179=)
c.2836G= (p.Gly946=)
c.3583G= (p.Gly1195=)
16g.3757829C>GCA394568581CREBBPc.3589G>C (p.Gly1197Arg)
c.3475G>C (p.Gly1159Arg)
c.2194G>C (p.Gly732Arg)
c.3544G>C (p.Gly1182Arg)
c.3172G>C (p.Gly1058Arg)
c.3535G>C (p.Gly1179Arg)
c.2836G>C (p.Gly946Arg)
c.3583G>C (p.Gly1195Arg)
 dbSNP
16g.3757829C>TCA394568582CREBBPc.3589G>A (p.Gly1197Arg)
c.3475G>A (p.Gly1159Arg)
c.2194G>A (p.Gly732Arg)
c.3544G>A (p.Gly1182Arg)
c.3172G>A (p.Gly1058Arg)
c.3535G>A (p.Gly1179Arg)
c.2836G>A (p.Gly946Arg)
c.3583G>A (p.Gly1195Arg)
 ClinVar dbSNP
16g.3757830A>CCA493394475CREBBPc.3588T>G (p.Leu1196=)
c.3474T>G (p.Leu1158=)
c.2193T>G (p.Leu731=)
c.3543T>G (p.Leu1181=)
c.3171T>G (p.Leu1057=)
c.3534T>G (p.Leu1178=)
c.2835T>G (p.Leu945=)
c.3582T>G (p.Leu1194=)
16g.3757830A>GCA493394477CREBBPc.3588T>C (p.Leu1196=)
c.3474T>C (p.Leu1158=)
c.2193T>C (p.Leu731=)
c.3543T>C (p.Leu1181=)
c.3171T>C (p.Leu1057=)
c.3534T>C (p.Leu1178=)
c.2835T>C (p.Leu945=)
c.3582T>C (p.Leu1194=)
 gnomAD v4
16g.3757830A>TCA493394478CREBBPc.3588T>A (p.Leu1196=)
c.3474T>A (p.Leu1158=)
c.2193T>A (p.Leu731=)
c.3543T>A (p.Leu1181=)
c.3171T>A (p.Leu1057=)
c.3534T>A (p.Leu1178=)
c.2835T>A (p.Leu945=)
c.3582T>A (p.Leu1194=)
16g.3757831A>CCA394568583CREBBPc.3587T>G (p.Leu1196Arg)
c.3473T>G (p.Leu1158Arg)
c.2192T>G (p.Leu731Arg)
c.3542T>G (p.Leu1181Arg)
c.3170T>G (p.Leu1057Arg)
c.3533T>G (p.Leu1178Arg)
c.2834T>G (p.Leu945Arg)
c.3581T>G (p.Leu1194Arg)
16g.3757831A>GCA394568584CREBBPc.3587T>C (p.Leu1196Pro)
c.3473T>C (p.Leu1158Pro)
c.2192T>C (p.Leu731Pro)
c.3542T>C (p.Leu1181Pro)
c.3170T>C (p.Leu1057Pro)
c.3533T>C (p.Leu1178Pro)
c.2834T>C (p.Leu945Pro)
c.3581T>C (p.Leu1194Pro)
16g.3757831A>TCA394568585CREBBPc.3587T>A (p.Leu1196His)
c.3473T>A (p.Leu1158His)
c.2192T>A (p.Leu731His)
c.3542T>A (p.Leu1181His)
c.3170T>A (p.Leu1057His)
c.3533T>A (p.Leu1178His)
c.2834T>A (p.Leu945His)
c.3581T>A (p.Leu1194His)
16g.3757832G>ACA394568586CREBBPc.3586C>T (p.Leu1196Phe)
c.3472C>T (p.Leu1158Phe)
c.2191C>T (p.Leu731Phe)
c.3541C>T (p.Leu1181Phe)
c.3169C>T (p.Leu1057Phe)
c.3532C>T (p.Leu1178Phe)
c.2833C>T (p.Leu945Phe)
c.3580C>T (p.Leu1194Phe)
16g.3757832G>CCA394568587CREBBPc.3586C>G (p.Leu1196Val)
c.3472C>G (p.Leu1158Val)
c.2191C>G (p.Leu731Val)
c.3541C>G (p.Leu1181Val)
c.3169C>G (p.Leu1057Val)
c.3532C>G (p.Leu1178Val)
c.2833C>G (p.Leu945Val)
c.3580C>G (p.Leu1194Val)
16g.3757832G>TCA394568588CREBBPc.3586C>A (p.Leu1196Ile)
c.3472C>A (p.Leu1158Ile)
c.2191C>A (p.Leu731Ile)
c.3541C>A (p.Leu1181Ile)
c.3169C>A (p.Leu1057Ile)
c.3532C>A (p.Leu1178Ile)
c.2833C>A (p.Leu945Ile)
c.3580C>A (p.Leu1194Ile)
16g.3757833G>ACA7869796CREBBPc.3585C>T (p.Ser1195=)
c.3471C>T (p.Ser1157=)
c.2190C>T (p.Ser730=)
c.3540C>T (p.Ser1180=)
c.3168C>T (p.Ser1056=)
c.3531C>T (p.Ser1177=)
c.2832C>T (p.Ser944=)
c.3579C>T (p.Ser1193=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3757833G>CCA493394479CREBBPc.3585C>G (p.Ser1195=)
c.3471C>G (p.Ser1157=)
c.2190C>G (p.Ser730=)
c.3540C>G (p.Ser1180=)
c.3168C>G (p.Ser1056=)
c.3531C>G (p.Ser1177=)
c.2832C>G (p.Ser944=)
c.3579C>G (p.Ser1193=)
16g.3757833G=CA2202943180CREBBPc.3585C= (p.Ser1195=)
c.3471C= (p.Ser1157=)
c.2190C= (p.Ser730=)
c.3540C= (p.Ser1180=)
c.3168C= (p.Ser1056=)
c.3531C= (p.Ser1177=)
c.2832C= (p.Ser944=)
c.3579C= (p.Ser1193=)
16g.3757833G>TCA493394480CREBBPc.3585C>A (p.Ser1195=)
c.3471C>A (p.Ser1157=)
c.2190C>A (p.Ser730=)
c.3540C>A (p.Ser1180=)
c.3168C>A (p.Ser1056=)
c.3531C>A (p.Ser1177=)
c.2832C>A (p.Ser944=)
c.3579C>A (p.Ser1193=)
 dbSNP gnomAD v4
16g.3757834G>ACA394568589CREBBPc.3584C>T (p.Ser1195Phe)
c.3470C>T (p.Ser1157Phe)
c.2189C>T (p.Ser730Phe)
c.3539C>T (p.Ser1180Phe)
c.3167C>T (p.Ser1056Phe)
c.3530C>T (p.Ser1177Phe)
c.2831C>T (p.Ser944Phe)
c.3578C>T (p.Ser1193Phe)
16g.3757834G>CCA394568590CREBBPc.3584C>G (p.Ser1195Cys)
c.3470C>G (p.Ser1157Cys)
c.2189C>G (p.Ser730Cys)
c.3539C>G (p.Ser1180Cys)
c.3167C>G (p.Ser1056Cys)
c.3530C>G (p.Ser1177Cys)
c.2831C>G (p.Ser944Cys)
c.3578C>G (p.Ser1193Cys)
 dbSNP
16g.3757834G>TCA394568591CREBBPc.3584C>A (p.Ser1195Tyr)
c.3470C>A (p.Ser1157Tyr)
c.2189C>A (p.Ser730Tyr)
c.3539C>A (p.Ser1180Tyr)
c.3167C>A (p.Ser1056Tyr)
c.3530C>A (p.Ser1177Tyr)
c.2831C>A (p.Ser944Tyr)
c.3578C>A (p.Ser1193Tyr)
 gnomAD v4
16g.3757835A>CCA394568592CREBBPc.3583T>G (p.Ser1195Ala)
c.3469T>G (p.Ser1157Ala)
c.2188T>G (p.Ser730Ala)
c.3538T>G (p.Ser1180Ala)
c.3166T>G (p.Ser1056Ala)
c.3529T>G (p.Ser1177Ala)
c.2830T>G (p.Ser944Ala)
c.3577T>G (p.Ser1193Ala)
16g.3757835A>GCA394568594CREBBPc.3583T>C (p.Ser1195Pro)
c.3469T>C (p.Ser1157Pro)
c.2188T>C (p.Ser730Pro)
c.3538T>C (p.Ser1180Pro)
c.3166T>C (p.Ser1056Pro)
c.3529T>C (p.Ser1177Pro)
c.2830T>C (p.Ser944Pro)
c.3577T>C (p.Ser1193Pro)
16g.3757835A>TCA394568593CREBBPc.3583T>A (p.Ser1195Thr)
c.3469T>A (p.Ser1157Thr)
c.2188T>A (p.Ser730Thr)
c.3538T>A (p.Ser1180Thr)
c.3166T>A (p.Ser1056Thr)
c.3529T>A (p.Ser1177Thr)
c.2830T>A (p.Ser944Thr)
c.3577T>A (p.Ser1193Thr)
16g.3757836C>ACA394568595CREBBPc.3582G>T (p.Gln1194His)
c.3468G>T (p.Gln1156His)
c.2187G>T (p.Gln729His)
c.3537G>T (p.Gln1179His)
c.3165G>T (p.Gln1055His)
c.3528G>T (p.Gln1176His)
c.2829G>T (p.Gln943His)
c.3576G>T (p.Gln1192His)
 gnomAD v4
16g.3757836C=CA2202943184CREBBPc.3582G= (p.Gln1194=)
c.3468G= (p.Gln1156=)
c.2187G= (p.Gln729=)
c.3537G= (p.Gln1179=)
c.3165G= (p.Gln1055=)
c.3528G= (p.Gln1176=)
c.2829G= (p.Gln943=)
c.3576G= (p.Gln1192=)
16g.3757836C>GCA394568596CREBBPc.3582G>C (p.Gln1194His)
c.3468G>C (p.Gln1156His)
c.2187G>C (p.Gln729His)
c.3537G>C (p.Gln1179His)
c.3165G>C (p.Gln1055His)
c.3528G>C (p.Gln1176His)
c.2829G>C (p.Gln943His)
c.3576G>C (p.Gln1192His)
 dbSNP
16g.3757836C>TCA493394481CREBBPc.3582G>A (p.Gln1194=)
c.3468G>A (p.Gln1156=)
c.2187G>A (p.Gln729=)
c.3537G>A (p.Gln1179=)
c.3165G>A (p.Gln1055=)
c.3528G>A (p.Gln1176=)
c.2829G>A (p.Gln943=)
c.3576G>A (p.Gln1192=)
16g.3757837T>ACA394568597CREBBPc.3581A>T (p.Gln1194Leu)
c.3467A>T (p.Gln1156Leu)
c.2186A>T (p.Gln729Leu)
c.3536A>T (p.Gln1179Leu)
c.3164A>T (p.Gln1055Leu)
c.3527A>T (p.Gln1176Leu)
c.2828A>T (p.Gln943Leu)
c.3575A>T (p.Gln1192Leu)
16g.3757837T>CCA7869797CREBBPc.3581A>G (p.Gln1194Arg)
c.3467A>G (p.Gln1156Arg)
c.2186A>G (p.Gln729Arg)
c.3536A>G (p.Gln1179Arg)
c.3164A>G (p.Gln1055Arg)
c.3527A>G (p.Gln1176Arg)
c.2828A>G (p.Gln943Arg)
c.3575A>G (p.Gln1192Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3757837T>GCA394568598CREBBPc.3581A>C (p.Gln1194Pro)
c.3467A>C (p.Gln1156Pro)
c.2186A>C (p.Gln729Pro)
c.3536A>C (p.Gln1179Pro)
c.3164A>C (p.Gln1055Pro)
c.3527A>C (p.Gln1176Pro)
c.2828A>C (p.Gln943Pro)
c.3575A>C (p.Gln1192Pro)
16g.3757837T=CA2202943187CREBBPc.3581A= (p.Gln1194=)
c.3467A= (p.Gln1156=)
c.2186A= (p.Gln729=)
c.3536A= (p.Gln1179=)
c.3164A= (p.Gln1055=)
c.3527A= (p.Gln1176=)
c.2828A= (p.Gln943=)
c.3575A= (p.Gln1192=)
16g.3757838G>ACA394568599CREBBPc.3580C>T (p.Gln1194Ter)
c.3466C>T (p.Gln1156Ter)
c.2185C>T (p.Gln729Ter)
c.3535C>T (p.Gln1179Ter)
c.3163C>T (p.Gln1055Ter)
c.3526C>T (p.Gln1176Ter)
c.2827C>T (p.Gln943Ter)
c.3574C>T (p.Gln1192Ter)
 dbSNP
16g.3757838G>CCA394568600CREBBPc.3580C>G (p.Gln1194Glu)
c.3466C>G (p.Gln1156Glu)
c.2185C>G (p.Gln729Glu)
c.3535C>G (p.Gln1179Glu)
c.3163C>G (p.Gln1055Glu)
c.3526C>G (p.Gln1176Glu)
c.2827C>G (p.Gln943Glu)
c.3574C>G (p.Gln1192Glu)
16g.3757838G>TCA394568601CREBBPc.3580C>A (p.Gln1194Lys)
c.3466C>A (p.Gln1156Lys)
c.2185C>A (p.Gln729Lys)
c.3535C>A (p.Gln1179Lys)
c.3163C>A (p.Gln1055Lys)
c.3526C>A (p.Gln1176Lys)
c.2827C>A (p.Gln943Lys)
c.3574C>A (p.Gln1192Lys)
16g.3757839C>ACA394568602CREBBPc.3579G>T (p.Met1193Ile)
c.3465G>T (p.Met1155Ile)
c.2184G>T (p.Met728Ile)
c.3534G>T (p.Met1178Ile)
c.3162G>T (p.Met1054Ile)
c.3525G>T (p.Met1175Ile)
c.2826G>T (p.Met942Ile)
c.3573G>T (p.Met1191Ile)
16g.3757839C>GCA394568603CREBBPc.3579G>C (p.Met1193Ile)
c.3465G>C (p.Met1155Ile)
c.2184G>C (p.Met728Ile)
c.3534G>C (p.Met1178Ile)
c.3162G>C (p.Met1054Ile)
c.3525G>C (p.Met1175Ile)
c.2826G>C (p.Met942Ile)
c.3573G>C (p.Met1191Ile)
16g.3757839C>TCA394568604CREBBPc.3579G>A (p.Met1193Ile)
c.3465G>A (p.Met1155Ile)
c.2184G>A (p.Met728Ile)
c.3534G>A (p.Met1178Ile)
c.3162G>A (p.Met1054Ile)
c.3525G>A (p.Met1175Ile)
c.2826G>A (p.Met942Ile)
c.3573G>A (p.Met1191Ile)
 dbSNP
16g.3757840A>CCA394568606CREBBPc.3578T>G (p.Met1193Arg)
c.3464T>G (p.Met1155Arg)
c.2183T>G (p.Met728Arg)
c.3533T>G (p.Met1178Arg)
c.3161T>G (p.Met1054Arg)
c.3524T>G (p.Met1175Arg)
c.2825T>G (p.Met942Arg)
c.3572T>G (p.Met1191Arg)
16g.3757840A>GCA394568607CREBBPc.3578T>C (p.Met1193Thr)
c.3464T>C (p.Met1155Thr)
c.2183T>C (p.Met728Thr)
c.3533T>C (p.Met1178Thr)
c.3161T>C (p.Met1054Thr)
c.3524T>C (p.Met1175Thr)
c.2825T>C (p.Met942Thr)
c.3572T>C (p.Met1191Thr)
16g.3757840A>TCA394568605CREBBPc.3578T>A (p.Met1193Lys)
c.3464T>A (p.Met1155Lys)
c.2183T>A (p.Met728Lys)
c.3533T>A (p.Met1178Lys)
c.3161T>A (p.Met1054Lys)
c.3524T>A (p.Met1175Lys)
c.2825T>A (p.Met942Lys)
c.3572T>A (p.Met1191Lys)
16g.3757841T>ACA394568609CREBBPc.3577A>T (p.Met1193Leu)
c.3463A>T (p.Met1155Leu)
c.2182A>T (p.Met728Leu)
c.3532A>T (p.Met1178Leu)
c.3160A>T (p.Met1054Leu)
c.3523A>T (p.Met1175Leu)
c.2824A>T (p.Met942Leu)
c.3571A>T (p.Met1191Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3757841T>CCA394568608CREBBPc.3577A>G (p.Met1193Val)
c.3463A>G (p.Met1155Val)
c.2182A>G (p.Met728Val)
c.3532A>G (p.Met1178Val)
c.3160A>G (p.Met1054Val)
c.3523A>G (p.Met1175Val)
c.2824A>G (p.Met942Val)
c.3571A>G (p.Met1191Val)
 gnomAD v4
16g.3757841T>GCA394568610CREBBPc.3577A>C (p.Met1193Leu)
c.3463A>C (p.Met1155Leu)
c.2182A>C (p.Met728Leu)
c.3532A>C (p.Met1178Leu)
c.3160A>C (p.Met1054Leu)
c.3523A>C (p.Met1175Leu)
c.2824A>C (p.Met942Leu)
c.3571A>C (p.Met1191Leu)
16g.3757841T=CA2202943190CREBBPc.3577A= (p.Met1193=)
c.3463A= (p.Met1155=)
c.2182A= (p.Met728=)
c.3532A= (p.Met1178=)
c.3160A= (p.Met1054=)
c.3523A= (p.Met1175=)
c.2824A= (p.Met942=)
c.3571A= (p.Met1191=)
16g.3757842G>ACA493394483CREBBPc.3576C>T (p.Val1192=)
c.3462C>T (p.Val1154=)
c.2181C>T (p.Val727=)
c.3531C>T (p.Val1177=)
c.3159C>T (p.Val1053=)
c.3522C>T (p.Val1174=)
c.2823C>T (p.Val941=)
c.3570C>T (p.Val1190=)
 dbSNP
16g.3757842G>CCA7869798CREBBPc.3576C>G (p.Val1192=)
c.3462C>G (p.Val1154=)
c.2181C>G (p.Val727=)
c.3531C>G (p.Val1177=)
c.3159C>G (p.Val1053=)
c.3522C>G (p.Val1174=)
c.2823C>G (p.Val941=)
c.3570C>G (p.Val1190=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.3757842G=CA2202943192CREBBPc.3576C= (p.Val1192=)
c.3462C= (p.Val1154=)
c.2181C= (p.Val727=)
c.3531C= (p.Val1177=)
c.3159C= (p.Val1053=)
c.3522C= (p.Val1174=)
c.2823C= (p.Val941=)
c.3570C= (p.Val1190=)
16g.3757842G>TCA493394482CREBBPc.3576C>A (p.Val1192=)
c.3462C>A (p.Val1154=)
c.2181C>A (p.Val727=)
c.3531C>A (p.Val1177=)
c.3159C>A (p.Val1053=)
c.3522C>A (p.Val1174=)
c.2823C>A (p.Val941=)
c.3570C>A (p.Val1190=)
16g.3757842_3757923delinsGACAGGGTCAATTTCCTGCTCAAAGACCTCTGCAAGCTTACTGCAAAACTTATAGACTCGGGATGTCTTGCGATTATAGAGCCA2202943193CREBBPc.3495_3576delinsGCTCTATAATCGCAAGACATCCCGAGTCTATAAGTTTTGCAGTAAGCTTGCAGAGGTCTTTGAGCAGGAAATTGACCCTGTC (p.Trp1165=)
c.3381_3462delinsGCTCTATAATCGCAAGACATCCCGAGTCTATAAGTTTTGCAGTAAGCTTGCAGAGGTCTTTGAGCAGGAAATTGACCCTGTC (p.Trp1127=)
c.2100_2181delinsGCTCTATAATCGCAAGACATCCCGAGTCTATAAGTTTTGCAGTAAGCTTGCAGAGGTCTTTGAGCAGGAAATTGACCCTGTC (p.Trp700=)
c.3450_3531delinsGCTCTATAATCGCAAGACATCCCGAGTCTATAAGTTTTGCAGTAAGCTTGCAGAGGTCTTTGAGCAGGAAATTGACCCTGTC (p.Trp1150=)
c.3078_3159delinsGCTCTATAATCGCAAGACATCCCGAGTCTATAAGTTTTGCAGTAAGCTTGCAGAGGTCTTTGAGCAGGAAATTGACCCTGTC (p.Trp1026=)
c.3441_3522delinsGCTCTATAATCGCAAGACATCCCGAGTCTATAAGTTTTGCAGTAAGCTTGCAGAGGTCTTTGAGCAGGAAATTGACCCTGTC (p.Trp1147=)
c.2742_2823delinsGCTCTATAATCGCAAGACATCCCGAGTCTATAAGTTTTGCAGTAAGCTTGCAGAGGTCTTTGAGCAGGAAATTGACCCTGTC (p.Trp914=)
c.3489_3570delinsGCTCTATAATCGCAAGACATCCCGAGTCTATAAGTTTTGCAGTAAGCTTGCAGAGGTCTTTGAGCAGGAAATTGACCCTGTC (p.Trp1163=)
16g.3757843A>CCA394568611CREBBPc.3575T>G (p.Val1192Gly)
c.3461T>G (p.Val1154Gly)
c.2180T>G (p.Val727Gly)
c.3530T>G (p.Val1177Gly)
c.3158T>G (p.Val1053Gly)
c.3521T>G (p.Val1174Gly)
c.2822T>G (p.Val941Gly)
c.3569T>G (p.Val1190Gly)
16g.3757843A>GCA394568612CREBBPc.3575T>C (p.Val1192Ala)
c.3461T>C (p.Val1154Ala)
c.2180T>C (p.Val727Ala)
c.3530T>C (p.Val1177Ala)
c.3158T>C (p.Val1053Ala)
c.3521T>C (p.Val1174Ala)
c.2822T>C (p.Val941Ala)
c.3569T>C (p.Val1190Ala)
 COSMIC
16g.3757843A>TCA394568613CREBBPc.3575T>A (p.Val1192Asp)
c.3461T>A (p.Val1154Asp)
c.2180T>A (p.Val727Asp)
c.3530T>A (p.Val1177Asp)
c.3158T>A (p.Val1053Asp)
c.3521T>A (p.Val1174Asp)
c.2822T>A (p.Val941Asp)
c.3569T>A (p.Val1190Asp)
 dbSNP
16g.3757843_3757923delCA915949079CREBBPc.3495_3575del (p.Trp1165_Val1192delinsCys)
c.3381_3461del (p.Trp1127_Val1154delinsCys)
c.2100_2180del (p.Trp700_Val727delinsCys)
c.3450_3530del (p.Trp1150_Val1177delinsCys)
c.3078_3158del (p.Trp1026_Val1053delinsCys)
c.3441_3521del (p.Trp1147_Val1174delinsCys)
c.2742_2822del (p.Trp914_Val941delinsCys)
c.3489_3569del (p.Trp1163_Val1190delinsCys)
 ClinVar dbSNP
16g.3757844C>ACA394568614CREBBPc.3574G>T (p.Val1192Phe)
c.3460G>T (p.Val1154Phe)
c.2179G>T (p.Val727Phe)
c.3529G>T (p.Val1177Phe)
c.3157G>T (p.Val1053Phe)
c.3520G>T (p.Val1174Phe)
c.2821G>T (p.Val941Phe)
c.3568G>T (p.Val1190Phe)
16g.3757844C=CA2202943203CREBBPc.3574G= (p.Val1192=)
c.3460G= (p.Val1154=)
c.2179G= (p.Val727=)
c.3529G= (p.Val1177=)
c.3157G= (p.Val1053=)
c.3520G= (p.Val1174=)
c.2821G= (p.Val941=)
c.3568G= (p.Val1190=)
16g.3757844C>GCA394568615CREBBPc.3574G>C (p.Val1192Leu)
c.3460G>C (p.Val1154Leu)
c.2179G>C (p.Val727Leu)
c.3529G>C (p.Val1177Leu)
c.3157G>C (p.Val1053Leu)
c.3520G>C (p.Val1174Leu)
c.2821G>C (p.Val941Leu)
c.3568G>C (p.Val1190Leu)
16g.3757844C>TCA394568616CREBBPc.3574G>A (p.Val1192Ile)
c.3460G>A (p.Val1154Ile)
c.2179G>A (p.Val727Ile)
c.3529G>A (p.Val1177Ile)
c.3157G>A (p.Val1053Ile)
c.3520G>A (p.Val1174Ile)
c.2821G>A (p.Val941Ile)
c.3568G>A (p.Val1190Ile)
 dbSNP
16g.3757845A=CA2202943207CREBBPc.3573T= (p.Pro1191=)
c.3459T= (p.Pro1153=)
c.2178T= (p.Pro726=)
c.3528T= (p.Pro1176=)
c.3156T= (p.Pro1052=)
c.3519T= (p.Pro1173=)
c.2820T= (p.Pro940=)
c.3567T= (p.Pro1189=)
16g.3757845A>CCA276997868CREBBPc.3573T>G (p.Pro1191=)
c.3459T>G (p.Pro1153=)
c.2178T>G (p.Pro726=)
c.3528T>G (p.Pro1176=)
c.3156T>G (p.Pro1052=)
c.3519T>G (p.Pro1173=)
c.2820T>G (p.Pro940=)
c.3567T>G (p.Pro1189=)
 dbSNP gnomAD v4
16g.3757845A>GCA493394484CREBBPc.3573T>C (p.Pro1191=)
c.3459T>C (p.Pro1153=)
c.2178T>C (p.Pro726=)
c.3528T>C (p.Pro1176=)
c.3156T>C (p.Pro1052=)
c.3519T>C (p.Pro1173=)
c.2820T>C (p.Pro940=)
c.3567T>C (p.Pro1189=)
 ClinVar dbSNP gnomAD v4
16g.3757845A>TCA493394485CREBBPc.3573T>A (p.Pro1191=)
c.3459T>A (p.Pro1153=)
c.2178T>A (p.Pro726=)
c.3528T>A (p.Pro1176=)
c.3156T>A (p.Pro1052=)
c.3519T>A (p.Pro1173=)
c.2820T>A (p.Pro940=)
c.3567T>A (p.Pro1189=)
16g.3757846G>ACA394568617CREBBPc.3572C>T (p.Pro1191Leu)
c.3458C>T (p.Pro1153Leu)
c.2177C>T (p.Pro726Leu)
c.3527C>T (p.Pro1176Leu)
c.3155C>T (p.Pro1052Leu)
c.3518C>T (p.Pro1173Leu)
c.2819C>T (p.Pro940Leu)
c.3566C>T (p.Pro1189Leu)
16g.3757846G>CCA394568619CREBBPc.3572C>G (p.Pro1191Arg)
c.3458C>G (p.Pro1153Arg)
c.2177C>G (p.Pro726Arg)
c.3527C>G (p.Pro1176Arg)
c.3155C>G (p.Pro1052Arg)
c.3518C>G (p.Pro1173Arg)
c.2819C>G (p.Pro940Arg)
c.3566C>G (p.Pro1189Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.3757846G=CA2202943211CREBBPc.3572C= (p.Pro1191=)
c.3458C= (p.Pro1153=)
c.2177C= (p.Pro726=)
c.3527C= (p.Pro1176=)
c.3155C= (p.Pro1052=)
c.3518C= (p.Pro1173=)
c.2819C= (p.Pro940=)
c.3566C= (p.Pro1189=)
16g.3757846G>TCA394568618CREBBPc.3572C>A (p.Pro1191His)
c.3458C>A (p.Pro1153His)
c.2177C>A (p.Pro726His)
c.3527C>A (p.Pro1176His)
c.3155C>A (p.Pro1052His)
c.3518C>A (p.Pro1173His)
c.2819C>A (p.Pro940His)
c.3566C>A (p.Pro1189His)
16g.3757847G>ACA394568620CREBBPc.3571C>T (p.Pro1191Ser)
c.3457C>T (p.Pro1153Ser)
c.2176C>T (p.Pro726Ser)
c.3526C>T (p.Pro1176Ser)
c.3154C>T (p.Pro1052Ser)
c.3517C>T (p.Pro1173Ser)
c.2818C>T (p.Pro940Ser)
c.3565C>T (p.Pro1189Ser)
 dbSNP
16g.3757847G>CCA394568621CREBBPc.3571C>G (p.Pro1191Ala)
c.3457C>G (p.Pro1153Ala)
c.2176C>G (p.Pro726Ala)
c.3526C>G (p.Pro1176Ala)
c.3154C>G (p.Pro1052Ala)
c.3517C>G (p.Pro1173Ala)
c.2818C>G (p.Pro940Ala)
c.3565C>G (p.Pro1189Ala)
 dbSNP
16g.3757847G>TCA394568622CREBBPc.3571C>A (p.Pro1191Thr)
c.3457C>A (p.Pro1153Thr)
c.2176C>A (p.Pro726Thr)
c.3526C>A (p.Pro1176Thr)
c.3154C>A (p.Pro1052Thr)
c.3517C>A (p.Pro1173Thr)
c.2818C>A (p.Pro940Thr)
c.3565C>A (p.Pro1189Thr)
 ClinVar dbSNP
16g.3757848G>ACA493394486CREBBPc.3570C>T (p.Asp1190=)
c.3456C>T (p.Asp1152=)
c.2175C>T (p.Asp725=)
c.3525C>T (p.Asp1175=)
c.3153C>T (p.Asp1051=)
c.3516C>T (p.Asp1172=)
c.2817C>T (p.Asp939=)
c.3564C>T (p.Asp1188=)
 dbSNP gnomAD v4 COSMIC
16g.3757848G>CCA394568623CREBBPc.3570C>G (p.Asp1190Glu)
c.3456C>G (p.Asp1152Glu)
c.2175C>G (p.Asp725Glu)
c.3525C>G (p.Asp1175Glu)
c.3153C>G (p.Asp1051Glu)
c.3516C>G (p.Asp1172Glu)
c.2817C>G (p.Asp939Glu)
c.3564C>G (p.Asp1188Glu)
16g.3757848G>TCA394568624CREBBPc.3570C>A (p.Asp1190Glu)
c.3456C>A (p.Asp1152Glu)
c.2175C>A (p.Asp725Glu)
c.3525C>A (p.Asp1175Glu)
c.3153C>A (p.Asp1051Glu)
c.3516C>A (p.Asp1172Glu)
c.2817C>A (p.Asp939Glu)
c.3564C>A (p.Asp1188Glu)
16g.3757849T>ACA394568625CREBBPc.3569A>T (p.Asp1190Val)
c.3455A>T (p.Asp1152Val)
c.2174A>T (p.Asp725Val)
c.3524A>T (p.Asp1175Val)
c.3152A>T (p.Asp1051Val)
c.3515A>T (p.Asp1172Val)
c.2816A>T (p.Asp939Val)
c.3563A>T (p.Asp1188Val)
16g.3757849T>CCA394568627CREBBPc.3569A>G (p.Asp1190Gly)
c.3455A>G (p.Asp1152Gly)
c.2174A>G (p.Asp725Gly)
c.3524A>G (p.Asp1175Gly)
c.3152A>G (p.Asp1051Gly)
c.3515A>G (p.Asp1172Gly)
c.2816A>G (p.Asp939Gly)
c.3563A>G (p.Asp1188Gly)
16g.3757849T>GCA394568626CREBBPc.3569A>C (p.Asp1190Ala)
c.3455A>C (p.Asp1152Ala)
c.2174A>C (p.Asp725Ala)
c.3524A>C (p.Asp1175Ala)
c.3152A>C (p.Asp1051Ala)
c.3515A>C (p.Asp1172Ala)
c.2816A>C (p.Asp939Ala)
c.3563A>C (p.Asp1188Ala)
16g.3757850C>ACA394568628CREBBPc.3568G>T (p.Asp1190Tyr)
c.3454G>T (p.Asp1152Tyr)
c.2173G>T (p.Asp725Tyr)
c.3523G>T (p.Asp1175Tyr)
c.3151G>T (p.Asp1051Tyr)
c.3514G>T (p.Asp1172Tyr)
c.2815G>T (p.Asp939Tyr)
c.3562G>T (p.Asp1188Tyr)
16g.3757850C>GCA394568629CREBBPc.3568G>C (p.Asp1190His)
c.3454G>C (p.Asp1152His)
c.2173G>C (p.Asp725His)
c.3523G>C (p.Asp1175His)
c.3151G>C (p.Asp1051His)
c.3514G>C (p.Asp1172His)
c.2815G>C (p.Asp939His)
c.3562G>C (p.Asp1188His)
16g.3757850C>TCA394568630CREBBPc.3568G>A (p.Asp1190Asn)
c.3454G>A (p.Asp1152Asn)
c.2173G>A (p.Asp725Asn)
c.3523G>A (p.Asp1175Asn)
c.3151G>A (p.Asp1051Asn)
c.3514G>A (p.Asp1172Asn)
c.2815G>A (p.Asp939Asn)
c.3562G>A (p.Asp1188Asn)
16g.3757851A>CCA394568631CREBBPc.3567T>G (p.Ile1189Met)
c.3453T>G (p.Ile1151Met)
c.2172T>G (p.Ile724Met)
c.3522T>G (p.Ile1174Met)
c.3150T>G (p.Ile1050Met)
c.3513T>G (p.Ile1171Met)
c.2814T>G (p.Ile938Met)
c.3561T>G (p.Ile1187Met)
16g.3757851A>GCA493394487CREBBPc.3567T>C (p.Ile1189=)
c.3453T>C (p.Ile1151=)
c.2172T>C (p.Ile724=)
c.3522T>C (p.Ile1174=)
c.3150T>C (p.Ile1050=)
c.3513T>C (p.Ile1171=)
c.2814T>C (p.Ile938=)
c.3561T>C (p.Ile1187=)
 gnomAD v4
16g.3757851A>TCA493394488CREBBPc.3567T>A (p.Ile1189=)
c.3453T>A (p.Ile1151=)
c.2172T>A (p.Ile724=)
c.3522T>A (p.Ile1174=)
c.3150T>A (p.Ile1050=)
c.3513T>A (p.Ile1171=)
c.2814T>A (p.Ile938=)
c.3561T>A (p.Ile1187=)
16g.3757852A=CA2202943215CREBBPc.3566T= (p.Ile1189=)
c.3452T= (p.Ile1151=)
c.2171T= (p.Ile724=)
c.3521T= (p.Ile1174=)
c.3149T= (p.Ile1050=)
c.3512T= (p.Ile1171=)
c.2813T= (p.Ile938=)
c.3560T= (p.Ile1187=)
16g.3757852A>CCA394568632CREBBPc.3566T>G (p.Ile1189Ser)
c.3452T>G (p.Ile1151Ser)
c.2171T>G (p.Ile724Ser)
c.3521T>G (p.Ile1174Ser)
c.3149T>G (p.Ile1050Ser)
c.3512T>G (p.Ile1171Ser)
c.2813T>G (p.Ile938Ser)
c.3560T>G (p.Ile1187Ser)
16g.3757852A>GCA7869799CREBBPc.3566T>C (p.Ile1189Thr)
c.3452T>C (p.Ile1151Thr)
c.2171T>C (p.Ile724Thr)
c.3521T>C (p.Ile1174Thr)
c.3149T>C (p.Ile1050Thr)
c.3512T>C (p.Ile1171Thr)
c.2813T>C (p.Ile938Thr)
c.3560T>C (p.Ile1187Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.3757852A>TCA394568633CREBBPc.3566T>A (p.Ile1189Asn)
c.3452T>A (p.Ile1151Asn)
c.2171T>A (p.Ile724Asn)
c.3521T>A (p.Ile1174Asn)
c.3149T>A (p.Ile1050Asn)
c.3512T>A (p.Ile1171Asn)
c.2813T>A (p.Ile938Asn)
c.3560T>A (p.Ile1187Asn)
16g.3757853T>ACA394568634CREBBPc.3565A>T (p.Ile1189Phe)
c.3451A>T (p.Ile1151Phe)
c.2170A>T (p.Ile724Phe)
c.3520A>T (p.Ile1174Phe)
c.3148A>T (p.Ile1050Phe)
c.3511A>T (p.Ile1171Phe)
c.2812A>T (p.Ile938Phe)
c.3559A>T (p.Ile1187Phe)
 dbSNP
16g.3757853T>CCA394568635CREBBPc.3565A>G (p.Ile1189Val)
c.3451A>G (p.Ile1151Val)
c.2170A>G (p.Ile724Val)
c.3520A>G (p.Ile1174Val)
c.3148A>G (p.Ile1050Val)
c.3511A>G (p.Ile1171Val)
c.2812A>G (p.Ile938Val)
c.3559A>G (p.Ile1187Val)
16g.3757853T>GCA394568636CREBBPc.3565A>C (p.Ile1189Leu)
c.3451A>C (p.Ile1151Leu)
c.2170A>C (p.Ile724Leu)
c.3520A>C (p.Ile1174Leu)
c.3148A>C (p.Ile1050Leu)
c.3511A>C (p.Ile1171Leu)
c.2812A>C (p.Ile938Leu)
c.3559A>C (p.Ile1187Leu)
16g.3757854T>ACA394568637CREBBPc.3564A>T (p.Glu1188Asp)
c.3450A>T (p.Glu1150Asp)
c.2169A>T (p.Glu723Asp)
c.3519A>T (p.Glu1173Asp)
c.3147A>T (p.Glu1049Asp)
c.3510A>T (p.Glu1170Asp)
c.2811A>T (p.Glu937Asp)
c.3558A>T (p.Glu1186Asp)
16g.3757854T>CCA493394489CREBBPc.3564A>G (p.Glu1188=)
c.3450A>G (p.Glu1150=)
c.2169A>G (p.Glu723=)
c.3519A>G (p.Glu1173=)
c.3147A>G (p.Glu1049=)
c.3510A>G (p.Glu1170=)
c.2811A>G (p.Glu937=)
c.3558A>G (p.Glu1186=)
16g.3757854T>GCA394568638CREBBPc.3564A>C (p.Glu1188Asp)
c.3450A>C (p.Glu1150Asp)
c.2169A>C (p.Glu723Asp)
c.3519A>C (p.Glu1173Asp)
c.3147A>C (p.Glu1049Asp)
c.3510A>C (p.Glu1170Asp)
c.2811A>C (p.Glu937Asp)
c.3558A>C (p.Glu1186Asp)
16g.3757855T>ACA394568639CREBBPc.3563A>T (p.Glu1188Val)
c.3449A>T (p.Glu1150Val)
c.2168A>T (p.Glu723Val)
c.3518A>T (p.Glu1173Val)
c.3146A>T (p.Glu1049Val)
c.3509A>T (p.Glu1170Val)
c.2810A>T (p.Glu937Val)
c.3557A>T (p.Glu1186Val)
16g.3757855T>CCA394568641CREBBPc.3563A>G (p.Glu1188Gly)
c.3449A>G (p.Glu1150Gly)
c.2168A>G (p.Glu723Gly)
c.3518A>G (p.Glu1173Gly)
c.3146A>G (p.Glu1049Gly)
c.3509A>G (p.Glu1170Gly)
c.2810A>G (p.Glu937Gly)
c.3557A>G (p.Glu1186Gly)
16g.3757855T>GCA394568640CREBBPc.3563A>C (p.Glu1188Ala)
c.3449A>C (p.Glu1150Ala)
c.2168A>C (p.Glu723Ala)
c.3518A>C (p.Glu1173Ala)
c.3146A>C (p.Glu1049Ala)
c.3509A>C (p.Glu1170Ala)
c.2810A>C (p.Glu937Ala)
c.3557A>C (p.Glu1186Ala)
16g.3757856C>ACA394568642CREBBPc.3562G>T (p.Glu1188Ter)
c.3448G>T (p.Glu1150Ter)
c.2167G>T (p.Glu723Ter)
c.3517G>T (p.Glu1173Ter)
c.3145G>T (p.Glu1049Ter)
c.3508G>T (p.Glu1170Ter)
c.2809G>T (p.Glu937Ter)
c.3556G>T (p.Glu1186Ter)
 dbSNP
16g.3757856C>GCA394568643CREBBPc.3562G>C (p.Glu1188Gln)
c.3448G>C (p.Glu1150Gln)
c.2167G>C (p.Glu723Gln)
c.3517G>C (p.Glu1173Gln)
c.3145G>C (p.Glu1049Gln)
c.3508G>C (p.Glu1170Gln)
c.2809G>C (p.Glu937Gln)
c.3556G>C (p.Glu1186Gln)
16g.3757856C>TCA394568644CREBBPc.3562G>A (p.Glu1188Lys)
c.3448G>A (p.Glu1150Lys)
c.2167G>A (p.Glu723Lys)
c.3517G>A (p.Glu1173Lys)
c.3145G>A (p.Glu1049Lys)
c.3508G>A (p.Glu1170Lys)
c.2809G>A (p.Glu937Lys)
c.3556G>A (p.Glu1186Lys)
16g.3757857C>ACA394568645CREBBPc.3561G>T (p.Gln1187His)
c.3447G>T (p.Gln1149His)
c.2166G>T (p.Gln722His)
c.3516G>T (p.Gln1172His)
c.3144G>T (p.Gln1048His)
c.3507G>T (p.Gln1169His)
c.2808G>T (p.Gln936His)
c.3555G>T (p.Gln1185His)
16g.3757857C>GCA394568646CREBBPc.3561G>C (p.Gln1187His)
c.3447G>C (p.Gln1149His)
c.2166G>C (p.Gln722His)
c.3516G>C (p.Gln1172His)
c.3144G>C (p.Gln1048His)
c.3507G>C (p.Gln1169His)
c.2808G>C (p.Gln936His)
c.3555G>C (p.Gln1185His)
16g.3757857C>TCA493394490CREBBPc.3561G>A (p.Gln1187=)
c.3447G>A (p.Gln1149=)
c.2166G>A (p.Gln722=)
c.3516G>A (p.Gln1172=)
c.3144G>A (p.Gln1048=)
c.3507G>A (p.Gln1169=)
c.2808G>A (p.Gln936=)
c.3555G>A (p.Gln1185=)
16g.3757858T>ACA394568647CREBBPc.3560A>T (p.Gln1187Leu)
c.3446A>T (p.Gln1149Leu)
c.2165A>T (p.Gln722Leu)
c.3515A>T (p.Gln1172Leu)
c.3143A>T (p.Gln1048Leu)
c.3506A>T (p.Gln1169Leu)
c.2807A>T (p.Gln936Leu)
c.3554A>T (p.Gln1185Leu)
16g.3757858T>CCA394568648CREBBPc.3560A>G (p.Gln1187Arg)
c.3446A>G (p.Gln1149Arg)
c.2165A>G (p.Gln722Arg)
c.3515A>G (p.Gln1172Arg)
c.3143A>G (p.Gln1048Arg)
c.3506A>G (p.Gln1169Arg)
c.2807A>G (p.Gln936Arg)
c.3554A>G (p.Gln1185Arg)
 dbSNP
16g.3757858T>GCA394568649CREBBPc.3560A>C (p.Gln1187Pro)
c.3446A>C (p.Gln1149Pro)
c.2165A>C (p.Gln722Pro)
c.3515A>C (p.Gln1172Pro)
c.3143A>C (p.Gln1048Pro)
c.3506A>C (p.Gln1169Pro)
c.2807A>C (p.Gln936Pro)
c.3554A>C (p.Gln1185Pro)
16g.3757858T=CA2202943218CREBBPc.3560A= (p.Gln1187=)
c.3446A= (p.Gln1149=)
c.2165A= (p.Gln722=)
c.3515A= (p.Gln1172=)
c.3143A= (p.Gln1048=)
c.3506A= (p.Gln1169=)
c.2807A= (p.Gln936=)
c.3554A= (p.Gln1185=)
16g.3757859G>ACA394568650CREBBPc.3559C>T (p.Gln1187Ter)
c.3445C>T (p.Gln1149Ter)
c.2164C>T (p.Gln722Ter)
c.3514C>T (p.Gln1172Ter)
c.3142C>T (p.Gln1048Ter)
c.3505C>T (p.Gln1169Ter)
c.2806C>T (p.Gln936Ter)
c.3553C>T (p.Gln1185Ter)
16g.3757859G>CCA394568651CREBBPc.3559C>G (p.Gln1187Glu)
c.3445C>G (p.Gln1149Glu)
c.2164C>G (p.Gln722Glu)
c.3514C>G (p.Gln1172Glu)
c.3142C>G (p.Gln1048Glu)
c.3505C>G (p.Gln1169Glu)
c.2806C>G (p.Gln936Glu)
c.3553C>G (p.Gln1185Glu)
 ClinVar dbSNP
16g.3757859G=CA2202943222CREBBPc.3559C= (p.Gln1187=)
c.3445C= (p.Gln1149=)
c.2164C= (p.Gln722=)
c.3514C= (p.Gln1172=)
c.3142C= (p.Gln1048=)
c.3505C= (p.Gln1169=)
c.2806C= (p.Gln936=)
c.3553C= (p.Gln1185=)
16g.3757859G>TCA394568652CREBBPc.3559C>A (p.Gln1187Lys)
c.3445C>A (p.Gln1149Lys)
c.2164C>A (p.Gln722Lys)
c.3514C>A (p.Gln1172Lys)
c.3142C>A (p.Gln1048Lys)
c.3505C>A (p.Gln1169Lys)
c.2806C>A (p.Gln936Lys)
c.3553C>A (p.Gln1185Lys)
16g.3757860C>ACA394568653CREBBPc.3558G>T (p.Glu1186Asp)
c.3444G>T (p.Glu1148Asp)
c.2163G>T (p.Glu721Asp)
c.3513G>T (p.Glu1171Asp)
c.3141G>T (p.Glu1047Asp)
c.3504G>T (p.Glu1168Asp)
c.2805G>T (p.Glu935Asp)
c.3552G>T (p.Glu1184Asp)
 gnomAD v4
16g.3757860C>GCA394568654CREBBPc.3558G>C (p.Glu1186Asp)
c.3444G>C (p.Glu1148Asp)
c.2163G>C (p.Glu721Asp)
c.3513G>C (p.Glu1171Asp)
c.3141G>C (p.Glu1047Asp)
c.3504G>C (p.Glu1168Asp)
c.2805G>C (p.Glu935Asp)
c.3552G>C (p.Glu1184Asp)
16g.3757860C>TCA493394491CREBBPc.3558G>A (p.Glu1186=)
c.3444G>A (p.Glu1148=)
c.2163G>A (p.Glu721=)
c.3513G>A (p.Glu1171=)
c.3141G>A (p.Glu1047=)
c.3504G>A (p.Glu1168=)
c.2805G>A (p.Glu935=)
c.3552G>A (p.Glu1184=)
16g.3757861T>ACA394568657CREBBPc.3557A>T (p.Glu1186Val)
c.3443A>T (p.Glu1148Val)
c.2162A>T (p.Glu721Val)
c.3512A>T (p.Glu1171Val)
c.3140A>T (p.Glu1047Val)
c.3503A>T (p.Glu1168Val)
c.2804A>T (p.Glu935Val)
c.3551A>T (p.Glu1184Val)
16g.3757861T>CCA394568655CREBBPc.3557A>G (p.Glu1186Gly)
c.3443A>G (p.Glu1148Gly)
c.2162A>G (p.Glu721Gly)
c.3512A>G (p.Glu1171Gly)
c.3140A>G (p.Glu1047Gly)
c.3503A>G (p.Glu1168Gly)
c.2804A>G (p.Glu935Gly)
c.3551A>G (p.Glu1184Gly)
16g.3757861T>GCA394568656CREBBPc.3557A>C (p.Glu1186Ala)
c.3443A>C (p.Glu1148Ala)
c.2162A>C (p.Glu721Ala)
c.3512A>C (p.Glu1171Ala)
c.3140A>C (p.Glu1047Ala)
c.3503A>C (p.Glu1168Ala)
c.2804A>C (p.Glu935Ala)
c.3551A>C (p.Glu1184Ala)
16g.3757862C>ACA394568658CREBBPc.3556G>T (p.Glu1186Ter)
c.3442G>T (p.Glu1148Ter)
c.2161G>T (p.Glu721Ter)
c.3511G>T (p.Glu1171Ter)
c.3139G>T (p.Glu1047Ter)
c.3502G>T (p.Glu1168Ter)
c.2803G>T (p.Glu935Ter)
c.3550G>T (p.Glu1184Ter)
16g.3757862C>GCA394568659CREBBPc.3556G>C (p.Glu1186Gln)
c.3442G>C (p.Glu1148Gln)
c.2161G>C (p.Glu721Gln)
c.3511G>C (p.Glu1171Gln)
c.3139G>C (p.Glu1047Gln)
c.3502G>C (p.Glu1168Gln)
c.2803G>C (p.Glu935Gln)
c.3550G>C (p.Glu1184Gln)
 dbSNP
16g.3757862C>TCA394568660CREBBPc.3556G>A (p.Glu1186Lys)
c.3442G>A (p.Glu1148Lys)
c.2161G>A (p.Glu721Lys)
c.3511G>A (p.Glu1171Lys)
c.3139G>A (p.Glu1047Lys)
c.3502G>A (p.Glu1168Lys)
c.2803G>A (p.Glu935Lys)
c.3550G>A (p.Glu1184Lys)
16g.3757863A=CA2202943227CREBBPc.3555T= (p.Phe1185=)
c.3441T= (p.Phe1147=)
c.2160T= (p.Phe720=)
c.3510T= (p.Phe1170=)
c.3138T= (p.Phe1046=)
c.3501T= (p.Phe1167=)
c.2802T= (p.Phe934=)
c.3549T= (p.Phe1183=)
16g.3757863A>CCA394568661CREBBPc.3555T>G (p.Phe1185Leu)
c.3441T>G (p.Phe1147Leu)
c.2160T>G (p.Phe720Leu)
c.3510T>G (p.Phe1170Leu)
c.3138T>G (p.Phe1046Leu)
c.3501T>G (p.Phe1167Leu)
c.2802T>G (p.Phe934Leu)
c.3549T>G (p.Phe1183Leu)
16g.3757863A>GCA493394492CREBBPc.3555T>C (p.Phe1185=)
c.3441T>C (p.Phe1147=)
c.2160T>C (p.Phe720=)
c.3510T>C (p.Phe1170=)
c.3138T>C (p.Phe1046=)
c.3501T>C (p.Phe1167=)
c.2802T>C (p.Phe934=)
c.3549T>C (p.Phe1183=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.3757863A>TCA394568662CREBBPc.3555T>A (p.Phe1185Leu)
c.3441T>A (p.Phe1147Leu)
c.2160T>A (p.Phe720Leu)
c.3510T>A (p.Phe1170Leu)
c.3138T>A (p.Phe1046Leu)
c.3501T>A (p.Phe1167Leu)
c.2802T>A (p.Phe934Leu)
c.3549T>A (p.Phe1183Leu)
16g.3757864A>CCA394568663CREBBPc.3554T>G (p.Phe1185Cys)
c.3440T>G (p.Phe1147Cys)
c.2159T>G (p.Phe720Cys)
c.3509T>G (p.Phe1170Cys)
c.3137T>G (p.Phe1046Cys)
c.3500T>G (p.Phe1167Cys)
c.2801T>G (p.Phe934Cys)
c.3548T>G (p.Phe1183Cys)
16g.3757864A>GCA394568664CREBBPc.3554T>C (p.Phe1185Ser)
c.3440T>C (p.Phe1147Ser)
c.2159T>C (p.Phe720Ser)
c.3509T>C (p.Phe1170Ser)
c.3137T>C (p.Phe1046Ser)
c.3500T>C (p.Phe1167Ser)
c.2801T>C (p.Phe934Ser)
c.3548T>C (p.Phe1183Ser)
16g.3757864A>TCA394568665CREBBPc.3554T>A (p.Phe1185Tyr)
c.3440T>A (p.Phe1147Tyr)
c.2159T>A (p.Phe720Tyr)
c.3509T>A (p.Phe1170Tyr)
c.3137T>A (p.Phe1046Tyr)
c.3500T>A (p.Phe1167Tyr)
c.2801T>A (p.Phe934Tyr)
c.3548T>A (p.Phe1183Tyr)
16g.3757865A>CCA394568666CREBBPc.3553T>G (p.Phe1185Val)
c.3439T>G (p.Phe1147Val)
c.2158T>G (p.Phe720Val)
c.3508T>G (p.Phe1170Val)
c.3136T>G (p.Phe1046Val)
c.3499T>G (p.Phe1167Val)
c.2800T>G (p.Phe934Val)
c.3547T>G (p.Phe1183Val)
16g.3757865A>GCA394568667CREBBPc.3553T>C (p.Phe1185Leu)
c.3439T>C (p.Phe1147Leu)
c.2158T>C (p.Phe720Leu)
c.3508T>C (p.Phe1170Leu)
c.3136T>C (p.Phe1046Leu)
c.3499T>C (p.Phe1167Leu)
c.2800T>C (p.Phe934Leu)
c.3547T>C (p.Phe1183Leu)
 gnomAD v4
16g.3757865A>TCA394568668CREBBPc.3553T>A (p.Phe1185Ile)
c.3439T>A (p.Phe1147Ile)
c.2158T>A (p.Phe720Ile)
c.3508T>A (p.Phe1170Ile)
c.3136T>A (p.Phe1046Ile)
c.3499T>A (p.Phe1167Ile)
c.2800T>A (p.Phe934Ile)
c.3547T>A (p.Phe1183Ile)
 dbSNP
16g.3757866G>ACA493394495CREBBPc.3552C>T (p.Val1184=)
c.3438C>T (p.Val1146=)
c.2157C>T (p.Val719=)
c.3507C>T (p.Val1169=)
c.3135C>T (p.Val1045=)
c.3498C>T (p.Val1166=)
c.2799C>T (p.Val933=)
c.3546C>T (p.Val1182=)
 COSMIC
16g.3757866G>CCA493394494CREBBPc.3552C>G (p.Val1184=)
c.3438C>G (p.Val1146=)
c.2157C>G (p.Val719=)
c.3507C>G (p.Val1169=)
c.3135C>G (p.Val1045=)
c.3498C>G (p.Val1166=)
c.2799C>G (p.Val933=)
c.3546C>G (p.Val1182=)
 dbSNP
16g.3757866G>TCA493394493CREBBPc.3552C>A (p.Val1184=)
c.3438C>A (p.Val1146=)
c.2157C>A (p.Val719=)
c.3507C>A (p.Val1169=)
c.3135C>A (p.Val1045=)
c.3498C>A (p.Val1166=)
c.2799C>A (p.Val933=)
c.3546C>A (p.Val1182=)
16g.3757867A>CCA394568669CREBBPc.3551T>G (p.Val1184Gly)
c.3437T>G (p.Val1146Gly)
c.2156T>G (p.Val719Gly)
c.3506T>G (p.Val1169Gly)
c.3134T>G (p.Val1045Gly)
c.3497T>G (p.Val1166Gly)
c.2798T>G (p.Val933Gly)
c.3545T>G (p.Val1182Gly)
16g.3757867A>GCA394568671CREBBPc.3551T>C (p.Val1184Ala)
c.3437T>C (p.Val1146Ala)
c.2156T>C (p.Val719Ala)
c.3506T>C (p.Val1169Ala)
c.3134T>C (p.Val1045Ala)
c.3497T>C (p.Val1166Ala)
c.2798T>C (p.Val933Ala)
c.3545T>C (p.Val1182Ala)
16g.3757867A>TCA394568670CREBBPc.3551T>A (p.Val1184Asp)
c.3437T>A (p.Val1146Asp)
c.2156T>A (p.Val719Asp)
c.3506T>A (p.Val1169Asp)
c.3134T>A (p.Val1045Asp)
c.3497T>A (p.Val1166Asp)
c.2798T>A (p.Val933Asp)
c.3545T>A (p.Val1182Asp)
16g.3757868C>ACA394568672CREBBPc.3550G>T (p.Val1184Phe)
c.3436G>T (p.Val1146Phe)
c.2155G>T (p.Val719Phe)
c.3505G>T (p.Val1169Phe)
c.3133G>T (p.Val1045Phe)
c.3496G>T (p.Val1166Phe)
c.2797G>T (p.Val933Phe)
c.3544G>T (p.Val1182Phe)
16g.3757868C=CA2202943234CREBBPc.3550G= (p.Val1184=)
c.3436G= (p.Val1146=)
c.2155G= (p.Val719=)
c.3505G= (p.Val1169=)
c.3133G= (p.Val1045=)
c.3496G= (p.Val1166=)
c.2797G= (p.Val933=)
c.3544G= (p.Val1182=)
16g.3757868C>GCA394568673CREBBPc.3550G>C (p.Val1184Leu)
c.3436G>C (p.Val1146Leu)
c.2155G>C (p.Val719Leu)
c.3505G>C (p.Val1169Leu)
c.3133G>C (p.Val1045Leu)
c.3496G>C (p.Val1166Leu)
c.2797G>C (p.Val933Leu)
c.3544G>C (p.Val1182Leu)
 dbSNP
16g.3757868C>TCA394568674CREBBPc.3550G>A (p.Val1184Ile)
c.3436G>A (p.Val1146Ile)
c.2155G>A (p.Val719Ile)
c.3505G>A (p.Val1169Ile)
c.3133G>A (p.Val1045Ile)
c.3496G>A (p.Val1166Ile)
c.2797G>A (p.Val933Ile)
c.3544G>A (p.Val1182Ile)
 dbSNP gnomAD v3 gnomAD v4
16g.3757869C>ACA394568675CREBBPc.3549G>T (p.Glu1183Asp)
c.3435G>T (p.Glu1145Asp)
c.2154G>T (p.Glu718Asp)
c.3504G>T (p.Glu1168Asp)
c.3132G>T (p.Glu1044Asp)
c.3495G>T (p.Glu1165Asp)
c.2796G>T (p.Glu932Asp)
c.3543G>T (p.Glu1181Asp)
16g.3757869C>GCA394568676CREBBPc.3549G>C (p.Glu1183Asp)
c.3435G>C (p.Glu1145Asp)
c.2154G>C (p.Glu718Asp)
c.3504G>C (p.Glu1168Asp)
c.3132G>C (p.Glu1044Asp)
c.3495G>C (p.Glu1165Asp)
c.2796G>C (p.Glu932Asp)
c.3543G>C (p.Glu1181Asp)
16g.3757869C>TCA493394496CREBBPc.3549G>A (p.Glu1183=)
c.3435G>A (p.Glu1145=)
c.2154G>A (p.Glu718=)
c.3504G>A (p.Glu1168=)
c.3132G>A (p.Glu1044=)
c.3495G>A (p.Glu1165=)
c.2796G>A (p.Glu932=)
c.3543G>A (p.Glu1181=)
 gnomAD v4
16g.3757870T>ACA394568677CREBBPc.3548A>T (p.Glu1183Val)
c.3434A>T (p.Glu1145Val)
c.2153A>T (p.Glu718Val)
c.3503A>T (p.Glu1168Val)
c.3131A>T (p.Glu1044Val)
c.3494A>T (p.Glu1165Val)
c.2795A>T (p.Glu932Val)
c.3542A>T (p.Glu1181Val)
16g.3757870T>CCA394568678CREBBPc.3548A>G (p.Glu1183Gly)
c.3434A>G (p.Glu1145Gly)
c.2153A>G (p.Glu718Gly)
c.3503A>G (p.Glu1168Gly)
c.3131A>G (p.Glu1044Gly)
c.3494A>G (p.Glu1165Gly)
c.2795A>G (p.Glu932Gly)
c.3542A>G (p.Glu1181Gly)
16g.3757870T>GCA394568679CREBBPc.3548A>C (p.Glu1183Ala)
c.3434A>C (p.Glu1145Ala)
c.2153A>C (p.Glu718Ala)
c.3503A>C (p.Glu1168Ala)
c.3131A>C (p.Glu1044Ala)
c.3494A>C (p.Glu1165Ala)
c.2795A>C (p.Glu932Ala)
c.3542A>C (p.Glu1181Ala)
16g.3757871C>ACA394568680CREBBPc.3547G>T (p.Glu1183Ter)
c.3433G>T (p.Glu1145Ter)
c.2152G>T (p.Glu718Ter)
c.3502G>T (p.Glu1168Ter)
c.3130G>T (p.Glu1044Ter)
c.3493G>T (p.Glu1165Ter)
c.2794G>T (p.Glu932Ter)
c.3541G>T (p.Glu1181Ter)
16g.3757871C>GCA394568682CREBBPc.3547G>C (p.Glu1183Gln)
c.3433G>C (p.Glu1145Gln)
c.2152G>C (p.Glu718Gln)
c.3502G>C (p.Glu1168Gln)
c.3130G>C (p.Glu1044Gln)
c.3493G>C (p.Glu1165Gln)
c.2794G>C (p.Glu932Gln)
c.3541G>C (p.Glu1181Gln)
 gnomAD v4
16g.3757871C>TCA394568681CREBBPc.3547G>A (p.Glu1183Lys)
c.3433G>A (p.Glu1145Lys)
c.2152G>A (p.Glu718Lys)
c.3502G>A (p.Glu1168Lys)
c.3130G>A (p.Glu1044Lys)
c.3493G>A (p.Glu1165Lys)
c.2794G>A (p.Glu932Lys)
c.3541G>A (p.Glu1181Lys)
16g.3757871_3757872insGGCA2695222670CREBBPc.3546_3547insCC (p.Glu1183ProfsTer?)
c.3432_3433insCC (p.Glu1145ProfsTer?)
c.2151_2152insCC (p.Glu718ProfsTer?)
c.3501_3502insCC (p.Glu1168ProfsTer?)
c.3129_3130insCC (p.Glu1044ProfsTer?)
c.3492_3493insCC (p.Glu1165ProfsTer?)
c.2793_2794insCC (p.Glu932ProfsTer?)
c.3540_3541insCC (p.Glu1181ProfsTer?)
16g.3757872T>ACA493394497CREBBPc.3546A>T (p.Ala1182=)
c.3432A>T (p.Ala1144=)
c.2151A>T (p.Ala717=)
c.3501A>T (p.Ala1167=)
c.3129A>T (p.Ala1043=)
c.3492A>T (p.Ala1164=)
c.2793A>T (p.Ala931=)
c.3540A>T (p.Ala1180=)
16g.3757872T>CCA7869800CREBBPc.3546A>G (p.Ala1182=)
c.3432A>G (p.Ala1144=)
c.2151A>G (p.Ala717=)
c.3501A>G (p.Ala1167=)
c.3129A>G (p.Ala1043=)
c.3492A>G (p.Ala1164=)
c.2793A>G (p.Ala931=)
c.3540A>G (p.Ala1180=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.3757872T>GCA493394498CREBBPc.3546A>C (p.Ala1182=)
c.3432A>C (p.Ala1144=)
c.2151A>C (p.Ala717=)
c.3501A>C (p.Ala1167=)
c.3129A>C (p.Ala1043=)
c.3492A>C (p.Ala1164=)
c.2793A>C (p.Ala931=)
c.3540A>C (p.Ala1180=)
16g.3757872T=CA2202943237CREBBPc.3546A= (p.Ala1182=)
c.3432A= (p.Ala1144=)
c.2151A= (p.Ala717=)
c.3501A= (p.Ala1167=)
c.3129A= (p.Ala1043=)
c.3492A= (p.Ala1164=)
c.2793A= (p.Ala931=)
c.3540A= (p.Ala1180=)
16g.3757872_3757873insCTACCGCA2516688777CREBBPc.3545_3546insCGGTAG (p.Ala1182_Glu1183insGlyArg)
c.3431_3432insCGGTAG (p.Ala1144_Glu1145insGlyArg)
c.2150_2151insCGGTAG (p.Ala717_Glu718insGlyArg)
c.3500_3501insCGGTAG (p.Ala1167_Glu1168insGlyArg)
c.3128_3129insCGGTAG (p.Ala1043_Glu1044insGlyArg)
c.3491_3492insCGGTAG (p.Ala1164_Glu1165insGlyArg)
c.2792_2793insCGGTAG (p.Ala931_Glu932insGlyArg)
c.3539_3540insCGGTAG (p.Ala1180_Glu1181insGlyArg)
16g.3757873G>ACA394568683CREBBPc.3545C>T (p.Ala1182Val)
c.3431C>T (p.Ala1144Val)
c.2150C>T (p.Ala717Val)
c.3500C>T (p.Ala1167Val)
c.3128C>T (p.Ala1043Val)
c.3491C>T (p.Ala1164Val)
c.2792C>T (p.Ala931Val)
c.3539C>T (p.Ala1180Val)
 dbSNP
16g.3757873G>CCA394568684CREBBPc.3545C>G (p.Ala1182Gly)
c.3431C>G (p.Ala1144Gly)
c.2150C>G (p.Ala717Gly)
c.3500C>G (p.Ala1167Gly)
c.3128C>G (p.Ala1043Gly)
c.3491C>G (p.Ala1164Gly)
c.2792C>G (p.Ala931Gly)
c.3539C>G (p.Ala1180Gly)
16g.3757873G>TCA394568685CREBBPc.3545C>A (p.Ala1182Glu)
c.3431C>A (p.Ala1144Glu)
c.2150C>A (p.Ala717Glu)
c.3500C>A (p.Ala1167Glu)
c.3128C>A (p.Ala1043Glu)
c.3491C>A (p.Ala1164Glu)
c.2792C>A (p.Ala931Glu)
c.3539C>A (p.Ala1180Glu)
16g.3757873dupCA2695222671CREBBPc.3545dup (p.Glu1183ArgfsTer4)
c.3431dup (p.Glu1145ArgfsTer4)
c.2150dup (p.Glu718ArgfsTer4)
c.3500dup (p.Glu1168ArgfsTer4)
c.3128dup (p.Glu1044ArgfsTer4)
c.3491dup (p.Glu1165ArgfsTer4)
c.2792dup (p.Glu932ArgfsTer4)
c.3539dup (p.Glu1181ArgfsTer4)
16g.3757874C>ACA394568686CREBBPc.3544G>T (p.Ala1182Ser)
c.3430G>T (p.Ala1144Ser)
c.2149G>T (p.Ala717Ser)
c.3499G>T (p.Ala1167Ser)
c.3127G>T (p.Ala1043Ser)
c.3490G>T (p.Ala1164Ser)
c.2791G>T (p.Ala931Ser)
c.3538G>T (p.Ala1180Ser)
 gnomAD v4
16g.3757874C>GCA394568688CREBBPc.3544G>C (p.Ala1182Pro)
c.3430G>C (p.Ala1144Pro)
c.2149G>C (p.Ala717Pro)
c.3499G>C (p.Ala1167Pro)
c.3127G>C (p.Ala1043Pro)
c.3490G>C (p.Ala1164Pro)
c.2791G>C (p.Ala931Pro)
c.3538G>C (p.Ala1180Pro)
16g.3757874C>TCA394568687CREBBPc.3544G>A (p.Ala1182Thr)
c.3430G>A (p.Ala1144Thr)
c.2149G>A (p.Ala717Thr)
c.3499G>A (p.Ala1167Thr)
c.3127G>A (p.Ala1043Thr)
c.3490G>A (p.Ala1164Thr)
c.2791G>A (p.Ala931Thr)
c.3538G>A (p.Ala1180Thr)
16g.3757874_3757875insGGACGACCTTTTGCCCTGCGATTCTCGCTCGCA2521027093CREBBPc.3543_3544insCGAGCGAGAATCGCAGGGCAAAAGGTCGTCC (p.Ala1182ArgfsTer15)
c.3429_3430insCGAGCGAGAATCGCAGGGCAAAAGGTCGTCC (p.Ala1144ArgfsTer15)
c.2148_2149insCGAGCGAGAATCGCAGGGCAAAAGGTCGTCC (p.Ala717ArgfsTer15)
c.3498_3499insCGAGCGAGAATCGCAGGGCAAAAGGTCGTCC (p.Ala1167ArgfsTer15)
c.3126_3127insCGAGCGAGAATCGCAGGGCAAAAGGTCGTCC (p.Ala1043ArgfsTer15)
c.3489_3490insCGAGCGAGAATCGCAGGGCAAAAGGTCGTCC (p.Ala1164ArgfsTer15)
c.2790_2791insCGAGCGAGAATCGCAGGGCAAAAGGTCGTCC (p.Ala931ArgfsTer15)
c.3537_3538insCGAGCGAGAATCGCAGGGCAAAAGGTCGTCC (p.Ala1180ArgfsTer15)
16g.3757875A>CCA493394499CREBBPc.3543T>G (p.Leu1181=)
c.3429T>G (p.Leu1143=)
c.2148T>G (p.Leu716=)
c.3498T>G (p.Leu1166=)
c.3126T>G (p.Leu1042=)
c.3489T>G (p.Leu1163=)
c.2790T>G (p.Leu930=)
c.3537T>G (p.Leu1179=)
16g.3757875A>GCA493394500CREBBPc.3543T>C (p.Leu1181=)
c.3429T>C (p.Leu1143=)
c.2148T>C (p.Leu716=)
c.3498T>C (p.Leu1166=)
c.3126T>C (p.Leu1042=)
c.3489T>C (p.Leu1163=)
c.2790T>C (p.Leu930=)
c.3537T>C (p.Leu1179=)
16g.3757875A>TCA493394501CREBBPc.3543T>A (p.Leu1181=)
c.3429T>A (p.Leu1143=)
c.2148T>A (p.Leu716=)
c.3498T>A (p.Leu1166=)
c.3126T>A (p.Leu1042=)
c.3489T>A (p.Leu1163=)
c.2790T>A (p.Leu930=)
c.3537T>A (p.Leu1179=)
16g.3757876A>CCA394568689CREBBPc.3542T>G (p.Leu1181Arg)
c.3428T>G (p.Leu1143Arg)
c.2147T>G (p.Leu716Arg)
c.3497T>G (p.Leu1166Arg)
c.3125T>G (p.Leu1042Arg)
c.3488T>G (p.Leu1163Arg)
c.2789T>G (p.Leu930Arg)
c.3536T>G (p.Leu1179Arg)
16g.3757876A>GCA394568690CREBBPc.3542T>C (p.Leu1181Pro)
c.3428T>C (p.Leu1143Pro)
c.2147T>C (p.Leu716Pro)
c.3497T>C (p.Leu1166Pro)
c.3125T>C (p.Leu1042Pro)
c.3488T>C (p.Leu1163Pro)
c.2789T>C (p.Leu930Pro)
c.3536T>C (p.Leu1179Pro)
16g.3757876A>TCA394568691CREBBPc.3542T>A (p.Leu1181His)
c.3428T>A (p.Leu1143His)
c.2147T>A (p.Leu716His)
c.3497T>A (p.Leu1166His)
c.3125T>A (p.Leu1042His)
c.3488T>A (p.Leu1163His)
c.2789T>A (p.Leu930His)
c.3536T>A (p.Leu1179His)
16g.3757876_3757877insAACTTCCAAGGACAAACCATTGCCCAAACTCCCGACTATATTACCCCCTATTTGGTAAACCTATCCCCTGGTGTACGACGTACCA2513947371CREBBPc.3541_3542insGTACGTCGTACACCAGGGGATAGGTTTACCAAATAGGGGGTAATATAGTCGGGAGTTTGGGCAATGGTTTGTCCTTGGAAGTT (p.Leu1181ArgfsTer8)
c.3427_3428insGTACGTCGTACACCAGGGGATAGGTTTACCAAATAGGGGGTAATATAGTCGGGAGTTTGGGCAATGGTTTGTCCTTGGAAGTT (p.Leu1143ArgfsTer8)
c.2146_2147insGTACGTCGTACACCAGGGGATAGGTTTACCAAATAGGGGGTAATATAGTCGGGAGTTTGGGCAATGGTTTGTCCTTGGAAGTT (p.Leu716ArgfsTer8)
c.3496_3497insGTACGTCGTACACCAGGGGATAGGTTTACCAAATAGGGGGTAATATAGTCGGGAGTTTGGGCAATGGTTTGTCCTTGGAAGTT (p.Leu1166ArgfsTer8)
c.3124_3125insGTACGTCGTACACCAGGGGATAGGTTTACCAAATAGGGGGTAATATAGTCGGGAGTTTGGGCAATGGTTTGTCCTTGGAAGTT (p.Leu1042ArgfsTer8)
c.3487_3488insGTACGTCGTACACCAGGGGATAGGTTTACCAAATAGGGGGTAATATAGTCGGGAGTTTGGGCAATGGTTTGTCCTTGGAAGTT (p.Leu1163ArgfsTer8)
c.2788_2789insGTACGTCGTACACCAGGGGATAGGTTTACCAAATAGGGGGTAATATAGTCGGGAGTTTGGGCAATGGTTTGTCCTTGGAAGTT (p.Leu930ArgfsTer8)
c.3535_3536insGTACGTCGTACACCAGGGGATAGGTTTACCAAATAGGGGGTAATATAGTCGGGAGTTTGGGCAATGGTTTGTCCTTGGAAGTT (p.Leu1179ArgfsTer8)
16g.3757877G>ACA394568692CREBBPc.3541C>T (p.Leu1181Phe)
c.3427C>T (p.Leu1143Phe)
c.2146C>T (p.Leu716Phe)
c.3496C>T (p.Leu1166Phe)
c.3124C>T (p.Leu1042Phe)
c.3487C>T (p.Leu1163Phe)
c.2788C>T (p.Leu930Phe)
c.3535C>T (p.Leu1179Phe)
16g.3757877G>CCA394568693CREBBPc.3541C>G (p.Leu1181Val)
c.3427C>G (p.Leu1143Val)
c.2146C>G (p.Leu716Val)
c.3496C>G (p.Leu1166Val)
c.3124C>G (p.Leu1042Val)
c.3487C>G (p.Leu1163Val)
c.2788C>G (p.Leu930Val)
c.3535C>G (p.Leu1179Val)
16g.3757877G>TCA394568694CREBBPc.3541C>A (p.Leu1181Ile)
c.3427C>A (p.Leu1143Ile)
c.2146C>A (p.Leu716Ile)
c.3496C>A (p.Leu1166Ile)
c.3124C>A (p.Leu1042Ile)
c.3487C>A (p.Leu1163Ile)
c.2788C>A (p.Leu930Ile)
c.3535C>A (p.Leu1179Ile)
16g.3757878C>ACA394568695CREBBPc.3540G>T (p.Lys1180Asn)
c.3426G>T (p.Lys1142Asn)
c.2145G>T (p.Lys715Asn)
c.3495G>T (p.Lys1165Asn)
c.3123G>T (p.Lys1041Asn)
c.3486G>T (p.Lys1162Asn)
c.2787G>T (p.Lys929Asn)
c.3534G>T (p.Lys1178Asn)
 dbSNP gnomAD v2 gnomAD v4
16g.3757878C=CA2202943241CREBBPc.3540G= (p.Lys1180=)
c.3426G= (p.Lys1142=)
c.2145G= (p.Lys715=)
c.3495G= (p.Lys1165=)
c.3123G= (p.Lys1041=)
c.3486G= (p.Lys1162=)
c.2787G= (p.Lys929=)
c.3534G= (p.Lys1178=)
16g.3757878C>GCA394568696CREBBPc.3540G>C (p.Lys1180Asn)
c.3426G>C (p.Lys1142Asn)
c.2145G>C (p.Lys715Asn)
c.3495G>C (p.Lys1165Asn)
c.3123G>C (p.Lys1041Asn)
c.3486G>C (p.Lys1162Asn)
c.2787G>C (p.Lys929Asn)
c.3534G>C (p.Lys1178Asn)
16g.3757878C>TCA493394502CREBBPc.3540G>A (p.Lys1180=)
c.3426G>A (p.Lys1142=)
c.2145G>A (p.Lys715=)
c.3495G>A (p.Lys1165=)
c.3123G>A (p.Lys1041=)
c.3486G>A (p.Lys1162=)
c.2787G>A (p.Lys929=)
c.3534G>A (p.Lys1178=)
16g.3757879T>ACA394568697CREBBPc.3539A>T (p.Lys1180Met)
c.3425A>T (p.Lys1142Met)
c.2144A>T (p.Lys715Met)
c.3494A>T (p.Lys1165Met)
c.3122A>T (p.Lys1041Met)
c.3485A>T (p.Lys1162Met)
c.2786A>T (p.Lys929Met)
c.3533A>T (p.Lys1178Met)
16g.3757879T>CCA394568698CREBBPc.3539A>G (p.Lys1180Arg)
c.3425A>G (p.Lys1142Arg)
c.2144A>G (p.Lys715Arg)
c.3494A>G (p.Lys1165Arg)
c.3122A>G (p.Lys1041Arg)
c.3485A>G (p.Lys1162Arg)
c.2786A>G (p.Lys929Arg)
c.3533A>G (p.Lys1178Arg)
16g.3757879T>GCA394568699CREBBPc.3539A>C (p.Lys1180Thr)
c.3425A>C (p.Lys1142Thr)
c.2144A>C (p.Lys715Thr)
c.3494A>C (p.Lys1165Thr)
c.3122A>C (p.Lys1041Thr)
c.3485A>C (p.Lys1162Thr)
c.2786A>C (p.Lys929Thr)
c.3533A>C (p.Lys1178Thr)
16g.3757880T>ACA394568700CREBBPc.3538A>T (p.Lys1180Ter)
c.3424A>T (p.Lys1142Ter)
c.2143A>T (p.Lys715Ter)
c.3493A>T (p.Lys1165Ter)
c.3121A>T (p.Lys1041Ter)
c.3484A>T (p.Lys1162Ter)
c.2785A>T (p.Lys929Ter)
c.3532A>T (p.Lys1178Ter)
16g.3757880T>CCA394568702CREBBPc.3538A>G (p.Lys1180Glu)
c.3424A>G (p.Lys1142Glu)
c.2143A>G (p.Lys715Glu)
c.3493A>G (p.Lys1165Glu)
c.3121A>G (p.Lys1041Glu)
c.3484A>G (p.Lys1162Glu)
c.2785A>G (p.Lys929Glu)
c.3532A>G (p.Lys1178Glu)
16g.3757880T>GCA394568701CREBBPc.3538A>C (p.Lys1180Gln)
c.3424A>C (p.Lys1142Gln)
c.2143A>C (p.Lys715Gln)
c.3493A>C (p.Lys1165Gln)
c.3121A>C (p.Lys1041Gln)
c.3484A>C (p.Lys1162Gln)
c.2785A>C (p.Lys929Gln)
c.3532A>C (p.Lys1178Gln)
16g.3757881A>CCA394568703CREBBPc.3537T>G (p.Ser1179Arg)
c.3423T>G (p.Ser1141Arg)
c.2142T>G (p.Ser714Arg)
c.3492T>G (p.Ser1164Arg)
c.3120T>G (p.Ser1040Arg)
c.3483T>G (p.Ser1161Arg)
c.2784T>G (p.Ser928Arg)
c.3531T>G (p.Ser1177Arg)
16g.3757881A>GCA493394503CREBBPc.3537T>C (p.Ser1179=)
c.3423T>C (p.Ser1141=)
c.2142T>C (p.Ser714=)
c.3492T>C (p.Ser1164=)
c.3120T>C (p.Ser1040=)
c.3483T>C (p.Ser1161=)
c.2784T>C (p.Ser928=)
c.3531T>C (p.Ser1177=)
16g.3757881A>TCA394568704CREBBPc.3537T>A (p.Ser1179Arg)
c.3423T>A (p.Ser1141Arg)
c.2142T>A (p.Ser714Arg)
c.3492T>A (p.Ser1164Arg)
c.3120T>A (p.Ser1040Arg)
c.3483T>A (p.Ser1161Arg)
c.2784T>A (p.Ser928Arg)
c.3531T>A (p.Ser1177Arg)
16g.3757882C>ACA394568705CREBBPc.3536G>T (p.Ser1179Ile)
c.3422G>T (p.Ser1141Ile)
c.2141G>T (p.Ser714Ile)
c.3491G>T (p.Ser1164Ile)
c.3119G>T (p.Ser1040Ile)
c.3482G>T (p.Ser1161Ile)
c.2783G>T (p.Ser928Ile)
c.3530G>T (p.Ser1177Ile)
 dbSNP
16g.3757882C=CA2202943244CREBBPc.3536G= (p.Ser1179=)
c.3422G= (p.Ser1141=)
c.2141G= (p.Ser714=)
c.3491G= (p.Ser1164=)
c.3119G= (p.Ser1040=)
c.3482G= (p.Ser1161=)
c.2783G= (p.Ser928=)
c.3530G= (p.Ser1177=)
16g.3757882C>GCA394568706CREBBPc.3536G>C (p.Ser1179Thr)
c.3422G>C (p.Ser1141Thr)
c.2141G>C (p.Ser714Thr)
c.3491G>C (p.Ser1164Thr)
c.3119G>C (p.Ser1040Thr)
c.3482G>C (p.Ser1161Thr)
c.2783G>C (p.Ser928Thr)
c.3530G>C (p.Ser1177Thr)
 dbSNP gnomAD v2
16g.3757882C>TCA394568707CREBBPc.3536G>A (p.Ser1179Asn)
c.3422G>A (p.Ser1141Asn)
c.2141G>A (p.Ser714Asn)
c.3491G>A (p.Ser1164Asn)
c.3119G>A (p.Ser1040Asn)
c.3482G>A (p.Ser1161Asn)
c.2783G>A (p.Ser928Asn)
c.3530G>A (p.Ser1177Asn)
 dbSNP
16g.3757883T>ACA394568708CREBBPc.3535A>T (p.Ser1179Cys)
c.3421A>T (p.Ser1141Cys)
c.2140A>T (p.Ser714Cys)
c.3490A>T (p.Ser1164Cys)
c.3118A>T (p.Ser1040Cys)
c.3481A>T (p.Ser1161Cys)
c.2782A>T (p.Ser928Cys)
c.3529A>T (p.Ser1177Cys)
16g.3757883T>CCA394568709CREBBPc.3535A>G (p.Ser1179Gly)
c.3421A>G (p.Ser1141Gly)
c.2140A>G (p.Ser714Gly)
c.3490A>G (p.Ser1164Gly)
c.3118A>G (p.Ser1040Gly)
c.3481A>G (p.Ser1161Gly)
c.2782A>G (p.Ser928Gly)
c.3529A>G (p.Ser1177Gly)
 ClinVar dbSNP
16g.3757883T>GCA394568710CREBBPc.3535A>C (p.Ser1179Arg)
c.3421A>C (p.Ser1141Arg)
c.2140A>C (p.Ser714Arg)
c.3490A>C (p.Ser1164Arg)
c.3118A>C (p.Ser1040Arg)
c.3481A>C (p.Ser1161Arg)
c.2782A>C (p.Ser928Arg)
c.3529A>C (p.Ser1177Arg)
16g.3757883T=CA2202943246CREBBPc.3535A= (p.Ser1179=)
c.3421A= (p.Ser1141=)
c.2140A= (p.Ser714=)
c.3490A= (p.Ser1164=)
c.3118A= (p.Ser1040=)
c.3481A= (p.Ser1161=)
c.2782A= (p.Ser928=)
c.3529A= (p.Ser1177=)
16g.3757884G>ACA493394504CREBBPc.3534C>T (p.Cys1178=)
c.3420C>T (p.Cys1140=)
c.2139C>T (p.Cys713=)
c.3489C>T (p.Cys1163=)
c.3117C>T (p.Cys1039=)
c.3480C>T (p.Cys1160=)
c.2781C>T (p.Cys927=)
c.3528C>T (p.Cys1176=)
 dbSNP gnomAD v2 gnomAD v4
16g.3757884G>CCA394568711CREBBPc.3534C>G (p.Cys1178Trp)
c.3420C>G (p.Cys1140Trp)
c.2139C>G (p.Cys713Trp)
c.3489C>G (p.Cys1163Trp)
c.3117C>G (p.Cys1039Trp)
c.3480C>G (p.Cys1160Trp)
c.2781C>G (p.Cys927Trp)
c.3528C>G (p.Cys1176Trp)
16g.3757884G=CA2202943251CREBBPc.3534C= (p.Cys1178=)
c.3420C= (p.Cys1140=)
c.2139C= (p.Cys713=)
c.3489C= (p.Cys1163=)
c.3117C= (p.Cys1039=)
c.3480C= (p.Cys1160=)
c.2781C= (p.Cys927=)
c.3528C= (p.Cys1176=)
16g.3757884G>TCA394568712CREBBPc.3534C>A (p.Cys1178Ter)
c.3420C>A (p.Cys1140Ter)
c.2139C>A (p.Cys713Ter)
c.3489C>A (p.Cys1163Ter)
c.3117C>A (p.Cys1039Ter)
c.3480C>A (p.Cys1160Ter)
c.2781C>A (p.Cys927Ter)
c.3528C>A (p.Cys1176Ter)
16g.3757885C>ACA394568713CREBBPc.3533G>T (p.Cys1178Phe)
c.3419G>T (p.Cys1140Phe)
c.2138G>T (p.Cys713Phe)
c.3488G>T (p.Cys1163Phe)
c.3116G>T (p.Cys1039Phe)
c.3479G>T (p.Cys1160Phe)
c.2780G>T (p.Cys927Phe)
c.3527G>T (p.Cys1176Phe)
 dbSNP
16g.3757885C>GCA394568714CREBBPc.3533G>C (p.Cys1178Ser)
c.3419G>C (p.Cys1140Ser)
c.2138G>C (p.Cys713Ser)
c.3488G>C (p.Cys1163Ser)
c.3116G>C (p.Cys1039Ser)
c.3479G>C (p.Cys1160Ser)
c.2780G>C (p.Cys927Ser)
c.3527G>C (p.Cys1176Ser)
16g.3757885C>TCA394568715CREBBPc.3533G>A (p.Cys1178Tyr)
c.3419G>A (p.Cys1140Tyr)
c.2138G>A (p.Cys713Tyr)
c.3488G>A (p.Cys1163Tyr)
c.3116G>A (p.Cys1039Tyr)
c.3479G>A (p.Cys1160Tyr)
c.2780G>A (p.Cys927Tyr)
c.3527G>A (p.Cys1176Tyr)
16g.3757886A>CCA394568716CREBBPc.3532T>G (p.Cys1178Gly)
c.3418T>G (p.Cys1140Gly)
c.2137T>G (p.Cys713Gly)
c.3487T>G (p.Cys1163Gly)
c.3115T>G (p.Cys1039Gly)
c.3478T>G (p.Cys1160Gly)
c.2779T>G (p.Cys927Gly)
c.3526T>G (p.Cys1176Gly)
16g.3757886A>GCA394568718CREBBPc.3532T>C (p.Cys1178Arg)
c.3418T>C (p.Cys1140Arg)
c.2137T>C (p.Cys713Arg)
c.3487T>C (p.Cys1163Arg)
c.3115T>C (p.Cys1039Arg)
c.3478T>C (p.Cys1160Arg)
c.2779T>C (p.Cys927Arg)
c.3526T>C (p.Cys1176Arg)
16g.3757886A>TCA394568717CREBBPc.3532T>A (p.Cys1178Ser)
c.3418T>A (p.Cys1140Ser)
c.2137T>A (p.Cys713Ser)
c.3487T>A (p.Cys1163Ser)
c.3115T>A (p.Cys1039Ser)
c.3478T>A (p.Cys1160Ser)
c.2779T>A (p.Cys927Ser)
c.3526T>A (p.Cys1176Ser)
16g.3757887A>CCA394568719CREBBPc.3531T>G (p.Phe1177Leu)
c.3417T>G (p.Phe1139Leu)
c.2136T>G (p.Phe712Leu)
c.3486T>G (p.Phe1162Leu)
c.3114T>G (p.Phe1038Leu)
c.3477T>G (p.Phe1159Leu)
c.2778T>G (p.Phe926Leu)
c.3525T>G (p.Phe1175Leu)
16g.3757887A>GCA493394505CREBBPc.3531T>C (p.Phe1177=)
c.3417T>C (p.Phe1139=)
c.2136T>C (p.Phe712=)
c.3486T>C (p.Phe1162=)
c.3114T>C (p.Phe1038=)
c.3477T>C (p.Phe1159=)
c.2778T>C (p.Phe926=)
c.3525T>C (p.Phe1175=)
 ClinVar
16g.3757887A>TCA394568720CREBBPc.3531T>A (p.Phe1177Leu)
c.3417T>A (p.Phe1139Leu)
c.2136T>A (p.Phe712Leu)
c.3486T>A (p.Phe1162Leu)
c.3114T>A (p.Phe1038Leu)
c.3477T>A (p.Phe1159Leu)
c.2778T>A (p.Phe926Leu)
c.3525T>A (p.Phe1175Leu)
16g.3757888A>CCA394568721CREBBPc.3530T>G (p.Phe1177Cys)
c.3416T>G (p.Phe1139Cys)
c.2135T>G (p.Phe712Cys)
c.3485T>G (p.Phe1162Cys)
c.3113T>G (p.Phe1038Cys)
c.3476T>G (p.Phe1159Cys)
c.2777T>G (p.Phe926Cys)
c.3524T>G (p.Phe1175Cys)
16g.3757888A>GCA394568722CREBBPc.3530T>C (p.Phe1177Ser)
c.3416T>C (p.Phe1139Ser)
c.2135T>C (p.Phe712Ser)
c.3485T>C (p.Phe1162Ser)
c.3113T>C (p.Phe1038Ser)
c.3476T>C (p.Phe1159Ser)
c.2777T>C (p.Phe926Ser)
c.3524T>C (p.Phe1175Ser)
16g.3757888A>TCA394568723CREBBPc.3530T>A (p.Phe1177Tyr)
c.3416T>A (p.Phe1139Tyr)
c.2135T>A (p.Phe712Tyr)
c.3485T>A (p.Phe1162Tyr)
c.3113T>A (p.Phe1038Tyr)
c.3476T>A (p.Phe1159Tyr)
c.2777T>A (p.Phe926Tyr)
c.3524T>A (p.Phe1175Tyr)
16g.3757889A=CA2202943255CREBBPc.3529T= (p.Phe1177=)
c.3415T= (p.Phe1139=)
c.2134T= (p.Phe712=)
c.3484T= (p.Phe1162=)
c.3112T= (p.Phe1038=)
c.3475T= (p.Phe1159=)
c.2776T= (p.Phe926=)
c.3523T= (p.Phe1175=)
16g.3757889A>CCA394568724CREBBPc.3529T>G (p.Phe1177Val)
c.3415T>G (p.Phe1139Val)
c.2134T>G (p.Phe712Val)
c.3484T>G (p.Phe1162Val)
c.3112T>G (p.Phe1038Val)
c.3475T>G (p.Phe1159Val)
c.2776T>G (p.Phe926Val)
c.3523T>G (p.Phe1175Val)
16g.3757889A>GCA394568725CREBBPc.3529T>C (p.Phe1177Leu)
c.3415T>C (p.Phe1139Leu)
c.2134T>C (p.Phe712Leu)
c.3484T>C (p.Phe1162Leu)
c.3112T>C (p.Phe1038Leu)
c.3475T>C (p.Phe1159Leu)
c.2776T>C (p.Phe926Leu)
c.3523T>C (p.Phe1175Leu)
 dbSNP
16g.3757889A>TCA394568726CREBBPc.3529T>A (p.Phe1177Ile)
c.3415T>A (p.Phe1139Ile)
c.2134T>A (p.Phe712Ile)
c.3484T>A (p.Phe1162Ile)
c.3112T>A (p.Phe1038Ile)
c.3475T>A (p.Phe1159Ile)
c.2776T>A (p.Phe926Ile)
c.3523T>A (p.Phe1175Ile)
16g.3757890C>ACA394568727CREBBPc.3528G>T (p.Lys1176Asn)
c.3414G>T (p.Lys1138Asn)
c.2133G>T (p.Lys711Asn)
c.3483G>T (p.Lys1161Asn)
c.3111G>T (p.Lys1037Asn)
c.3474G>T (p.Lys1158Asn)
c.2775G>T (p.Lys925Asn)
c.3522G>T (p.Lys1174Asn)
16g.3757890C>GCA394568728CREBBPc.3528G>C (p.Lys1176Asn)
c.3414G>C (p.Lys1138Asn)
c.2133G>C (p.Lys711Asn)
c.3483G>C (p.Lys1161Asn)
c.3111G>C (p.Lys1037Asn)
c.3474G>C (p.Lys1158Asn)
c.2775G>C (p.Lys925Asn)
c.3522G>C (p.Lys1174Asn)
16g.3757890C>TCA493394506CREBBPc.3528G>A (p.Lys1176=)
c.3414G>A (p.Lys1138=)
c.2133G>A (p.Lys711=)
c.3483G>A (p.Lys1161=)
c.3111G>A (p.Lys1037=)
c.3474G>A (p.Lys1158=)
c.2775G>A (p.Lys925=)
c.3522G>A (p.Lys1174=)
 dbSNP
16g.3757891T>ACA394568730CREBBPc.3527A>T (p.Lys1176Met)
c.3413A>T (p.Lys1138Met)
c.2132A>T (p.Lys711Met)
c.3482A>T (p.Lys1161Met)
c.3110A>T (p.Lys1037Met)
c.3473A>T (p.Lys1158Met)
c.2774A>T (p.Lys925Met)
c.3521A>T (p.Lys1174Met)
 COSMIC
16g.3757891T>CCA394568731CREBBPc.3527A>G (p.Lys1176Arg)
c.3413A>G (p.Lys1138Arg)
c.2132A>G (p.Lys711Arg)
c.3482A>G (p.Lys1161Arg)
c.3110A>G (p.Lys1037Arg)
c.3473A>G (p.Lys1158Arg)
c.2774A>G (p.Lys925Arg)
c.3521A>G (p.Lys1174Arg)
16g.3757891T>GCA394568729CREBBPc.3527A>C (p.Lys1176Thr)
c.3413A>C (p.Lys1138Thr)
c.2132A>C (p.Lys711Thr)
c.3482A>C (p.Lys1161Thr)
c.3110A>C (p.Lys1037Thr)
c.3473A>C (p.Lys1158Thr)
c.2774A>C (p.Lys925Thr)
c.3521A>C (p.Lys1174Thr)
16g.3757898_3757921delCA2580091114CREBBPc.3504_3527del (p.Asn1168_Tyr1175del)
c.3390_3413del (p.Asn1130_Tyr1137del)
c.2109_2132del (p.Asn703_Tyr710del)
c.3459_3482del (p.Asn1153_Tyr1160del)
c.3087_3110del (p.Asn1029_Tyr1036del)
c.3450_3473del (p.Asn1150_Tyr1157del)
c.2751_2774del (p.Asn917_Tyr924del)
c.3498_3521del (p.Asn1166_Tyr1173del)
 ClinVar
16g.3757892T>ACA394568733CREBBPc.3526A>T (p.Lys1176Ter)
c.3412A>T (p.Lys1138Ter)
c.2131A>T (p.Lys711Ter)
c.3481A>T (p.Lys1161Ter)
c.3109A>T (p.Lys1037Ter)
c.3472A>T (p.Lys1158Ter)
c.2773A>T (p.Lys925Ter)
c.3520A>T (p.Lys1174Ter)
16g.3757892T>CCA394568732CREBBPc.3526A>G (p.Lys1176Glu)
c.3412A>G (p.Lys1138Glu)
c.2131A>G (p.Lys711Glu)
c.3481A>G (p.Lys1161Glu)
c.3109A>G (p.Lys1037Glu)
c.3472A>G (p.Lys1158Glu)
c.2773A>G (p.Lys925Glu)
c.3520A>G (p.Lys1174Glu)
16g.3757892T>GCA394568734CREBBPc.3526A>C (p.Lys1176Gln)
c.3412A>C (p.Lys1138Gln)
c.2131A>C (p.Lys711Gln)
c.3481A>C (p.Lys1161Gln)
c.3109A>C (p.Lys1037Gln)
c.3472A>C (p.Lys1158Gln)
c.2773A>C (p.Lys925Gln)
c.3520A>C (p.Lys1174Gln)
16g.3757893A>CCA394568735CREBBPc.3525T>G (p.Tyr1175Ter)
c.3411T>G (p.Tyr1137Ter)
c.2130T>G (p.Tyr710Ter)
c.3480T>G (p.Tyr1160Ter)
c.3108T>G (p.Tyr1036Ter)
c.3471T>G (p.Tyr1157Ter)
c.2772T>G (p.Tyr924Ter)
c.3519T>G (p.Tyr1173Ter)
16g.3757893A>GCA493394507CREBBPc.3525T>C (p.Tyr1175=)
c.3411T>C (p.Tyr1137=)
c.2130T>C (p.Tyr710=)
c.3480T>C (p.Tyr1160=)
c.3108T>C (p.Tyr1036=)
c.3471T>C (p.Tyr1157=)
c.2772T>C (p.Tyr924=)
c.3519T>C (p.Tyr1173=)
16g.3757893A>TCA394568736CREBBPc.3525T>A (p.Tyr1175Ter)
c.3411T>A (p.Tyr1137Ter)
c.2130T>A (p.Tyr710Ter)
c.3480T>A (p.Tyr1160Ter)
c.3108T>A (p.Tyr1036Ter)
c.3471T>A (p.Tyr1157Ter)
c.2772T>A (p.Tyr924Ter)
c.3519T>A (p.Tyr1173Ter)
16g.3757894T>ACA394568737CREBBPc.3524A>T (p.Tyr1175Phe)
c.3410A>T (p.Tyr1137Phe)
c.2129A>T (p.Tyr710Phe)
c.3479A>T (p.Tyr1160Phe)
c.3107A>T (p.Tyr1036Phe)
c.3470A>T (p.Tyr1157Phe)
c.2771A>T (p.Tyr924Phe)
c.3518A>T (p.Tyr1173Phe)
 gnomAD v4
16g.3757894T>CCA254814CREBBPc.3524A>G (p.Tyr1175Cys)
c.3410A>G (p.Tyr1137Cys)
c.2129A>G (p.Tyr710Cys)
c.3479A>G (p.Tyr1160Cys)
c.3107A>G (p.Tyr1036Cys)
c.3470A>G (p.Tyr1157Cys)
c.2771A>G (p.Tyr924Cys)
c.3518A>G (p.Tyr1173Cys)
 ClinVar dbSNP
16g.3757894T>GCA394568738CREBBPc.3524A>C (p.Tyr1175Ser)
c.3410A>C (p.Tyr1137Ser)
c.2129A>C (p.Tyr710Ser)
c.3479A>C (p.Tyr1160Ser)
c.3107A>C (p.Tyr1036Ser)
c.3470A>C (p.Tyr1157Ser)
c.2771A>C (p.Tyr924Ser)
c.3518A>C (p.Tyr1173Ser)
16g.3757894T=CA2202943259CREBBPc.3524A= (p.Tyr1175=)
c.3410A= (p.Tyr1137=)
c.2129A= (p.Tyr710=)
c.3479A= (p.Tyr1160=)
c.3107A= (p.Tyr1036=)
c.3470A= (p.Tyr1157=)
c.2771A= (p.Tyr924=)
c.3518A= (p.Tyr1173=)
16g.3757895A>CCA394568739CREBBPc.3523T>G (p.Tyr1175Asp)
c.3409T>G (p.Tyr1137Asp)
c.2128T>G (p.Tyr710Asp)
c.3478T>G (p.Tyr1160Asp)
c.3106T>G (p.Tyr1036Asp)
c.3469T>G (p.Tyr1157Asp)
c.2770T>G (p.Tyr924Asp)
c.3517T>G (p.Tyr1173Asp)
16g.3757895A>GCA394568740CREBBPc.3523T>C (p.Tyr1175His)
c.3409T>C (p.Tyr1137His)
c.2128T>C (p.Tyr710His)
c.3478T>C (p.Tyr1160His)
c.3106T>C (p.Tyr1036His)
c.3469T>C (p.Tyr1157His)
c.2770T>C (p.Tyr924His)
c.3517T>C (p.Tyr1173His)
16g.3757895A>TCA394568741CREBBPc.3523T>A (p.Tyr1175Asn)
c.3409T>A (p.Tyr1137Asn)
c.2128T>A (p.Tyr710Asn)
c.3478T>A (p.Tyr1160Asn)
c.3106T>A (p.Tyr1036Asn)
c.3469T>A (p.Tyr1157Asn)
c.2770T>A (p.Tyr924Asn)
c.3517T>A (p.Tyr1173Asn)
16g.3757896G>ACA493394508CREBBPc.3522C>T (p.Val1174=)
c.3408C>T (p.Val1136=)
c.2127C>T (p.Val709=)
c.3477C>T (p.Val1159=)
c.3105C>T (p.Val1035=)
c.3468C>T (p.Val1156=)
c.2769C>T (p.Val923=)
c.3516C>T (p.Val1172=)
16g.3757896G>CCA493394509CREBBPc.3522C>G (p.Val1174=)
c.3408C>G (p.Val1136=)
c.2127C>G (p.Val709=)
c.3477C>G (p.Val1159=)
c.3105C>G (p.Val1035=)
c.3468C>G (p.Val1156=)
c.2769C>G (p.Val923=)
c.3516C>G (p.Val1172=)
16g.3757896G>TCA493394510CREBBPc.3522C>A (p.Val1174=)
c.3408C>A (p.Val1136=)
c.2127C>A (p.Val709=)
c.3477C>A (p.Val1159=)
c.3105C>A (p.Val1035=)
c.3468C>A (p.Val1156=)
c.2769C>A (p.Val923=)
c.3516C>A (p.Val1172=)
16g.3757897A>CCA394568742CREBBPc.3521T>G (p.Val1174Gly)
c.3407T>G (p.Val1136Gly)
c.2126T>G (p.Val709Gly)
c.3476T>G (p.Val1159Gly)
c.3104T>G (p.Val1035Gly)
c.3467T>G (p.Val1156Gly)
c.2768T>G (p.Val923Gly)
c.3515T>G (p.Val1172Gly)
16g.3757897A>GCA394568743CREBBPc.3521T>C (p.Val1174Ala)
c.3407T>C (p.Val1136Ala)
c.2126T>C (p.Val709Ala)
c.3476T>C (p.Val1159Ala)
c.3104T>C (p.Val1035Ala)
c.3467T>C (p.Val1156Ala)
c.2768T>C (p.Val923Ala)
c.3515T>C (p.Val1172Ala)
16g.3757897A>TCA394568744CREBBPc.3521T>A (p.Val1174Asp)
c.3407T>A (p.Val1136Asp)
c.2126T>A (p.Val709Asp)
c.3476T>A (p.Val1159Asp)
c.3104T>A (p.Val1035Asp)
c.3467T>A (p.Val1156Asp)
c.2768T>A (p.Val923Asp)
c.3515T>A (p.Val1172Asp)
16g.3757898C>ACA394568747CREBBPc.3520G>T (p.Val1174Phe)
c.3406G>T (p.Val1136Phe)
c.2125G>T (p.Val709Phe)
c.3475G>T (p.Val1159Phe)
c.3103G>T (p.Val1035Phe)
c.3466G>T (p.Val1156Phe)
c.2767G>T (p.Val923Phe)
c.3514G>T (p.Val1172Phe)
16g.3757898C>GCA394568745CREBBPc.3520G>C (p.Val1174Leu)
c.3406G>C (p.Val1136Leu)
c.2125G>C (p.Val709Leu)
c.3475G>C (p.Val1159Leu)
c.3103G>C (p.Val1035Leu)
c.3466G>C (p.Val1156Leu)
c.2767G>C (p.Val923Leu)
c.3514G>C (p.Val1172Leu)
16g.3757898C>TCA394568746CREBBPc.3520G>A (p.Val1174Ile)
c.3406G>A (p.Val1136Ile)
c.2125G>A (p.Val709Ile)
c.3475G>A (p.Val1159Ile)
c.3103G>A (p.Val1035Ile)
c.3466G>A (p.Val1156Ile)
c.2767G>A (p.Val923Ile)
c.3514G>A (p.Val1172Ile)
16g.3757899T>ACA493394511CREBBPc.3519A>T (p.Arg1173=)
c.3405A>T (p.Arg1135=)
c.2124A>T (p.Arg708=)
c.3474A>T (p.Arg1158=)
c.3102A>T (p.Arg1034=)
c.3465A>T (p.Arg1155=)
c.2766A>T (p.Arg922=)
c.3513A>T (p.Arg1171=)
16g.3757899T>CCA493394512CREBBPc.3519A>G (p.Arg1173=)
c.3405A>G (p.Arg1135=)
c.2124A>G (p.Arg708=)
c.3474A>G (p.Arg1158=)
c.3102A>G (p.Arg1034=)
c.3465A>G (p.Arg1155=)
c.2766A>G (p.Arg922=)
c.3513A>G (p.Arg1171=)
16g.3757899T>GCA493394513CREBBPc.3519A>C (p.Arg1173=)
c.3405A>C (p.Arg1135=)
c.2124A>C (p.Arg708=)
c.3474A>C (p.Arg1158=)
c.3102A>C (p.Arg1034=)
c.3465A>C (p.Arg1155=)
c.2766A>C (p.Arg922=)
c.3513A>C (p.Arg1171=)
16g.3757900C>ACA394568748CREBBPc.3518G>T (p.Arg1173Leu)
c.3404G>T (p.Arg1135Leu)
c.2123G>T (p.Arg708Leu)
c.3473G>T (p.Arg1158Leu)
c.3101G>T (p.Arg1034Leu)
c.3464G>T (p.Arg1155Leu)
c.2765G>T (p.Arg922Leu)
c.3512G>T (p.Arg1171Leu)
16g.3757900C>GCA394568749CREBBPc.3518G>C (p.Arg1173Pro)
c.3404G>C (p.Arg1135Pro)
c.2123G>C (p.Arg708Pro)
c.3473G>C (p.Arg1158Pro)
c.3101G>C (p.Arg1034Pro)
c.3464G>C (p.Arg1155Pro)
c.2765G>C (p.Arg922Pro)
c.3512G>C (p.Arg1171Pro)
16g.3757900C>TCA394568750CREBBPc.3518G>A (p.Arg1173Gln)
c.3404G>A (p.Arg1135Gln)
c.2123G>A (p.Arg708Gln)
c.3473G>A (p.Arg1158Gln)
c.3101G>A (p.Arg1034Gln)
c.3464G>A (p.Arg1155Gln)
c.2765G>A (p.Arg922Gln)
c.3512G>A (p.Arg1171Gln)
 dbSNP gnomAD v4
16g.3757901G>ACA394568751CREBBPc.3517C>T (p.Arg1173Ter)
c.3403C>T (p.Arg1135Ter)
c.2122C>T (p.Arg708Ter)
c.3472C>T (p.Arg1158Ter)
c.3100C>T (p.Arg1034Ter)
c.3463C>T (p.Arg1155Ter)
c.2764C>T (p.Arg922Ter)
c.3511C>T (p.Arg1171Ter)
 ClinVar dbSNP COSMIC
16g.3757901G>CCA394568752CREBBPc.3517C>G (p.Arg1173Gly)
c.3403C>G (p.Arg1135Gly)
c.2122C>G (p.Arg708Gly)
c.3472C>G (p.Arg1158Gly)
c.3100C>G (p.Arg1034Gly)
c.3463C>G (p.Arg1155Gly)
c.2764C>G (p.Arg922Gly)
c.3511C>G (p.Arg1171Gly)
16g.3757901G>TCA493394514CREBBPc.3517C>A (p.Arg1173=)
c.3403C>A (p.Arg1135=)
c.2122C>A (p.Arg708=)
c.3472C>A (p.Arg1158=)
c.3100C>A (p.Arg1034=)
c.3463C>A (p.Arg1155=)
c.2764C>A (p.Arg922=)
c.3511C>A (p.Arg1171=)
16g.3757902G>ACA493394515CREBBPc.3516C>T (p.Ser1172=)
c.3402C>T (p.Ser1134=)
c.2121C>T (p.Ser707=)
c.3471C>T (p.Ser1157=)
c.3099C>T (p.Ser1033=)
c.3462C>T (p.Ser1154=)
c.2763C>T (p.Ser921=)
c.3510C>T (p.Ser1170=)
 ClinVar dbSNP
16g.3757902G>CCA493394516CREBBPc.3516C>G (p.Ser1172=)
c.3402C>G (p.Ser1134=)
c.2121C>G (p.Ser707=)
c.3471C>G (p.Ser1157=)
c.3099C>G (p.Ser1033=)
c.3462C>G (p.Ser1154=)
c.2763C>G (p.Ser921=)
c.3510C>G (p.Ser1170=)
16g.3757902G>TCA493394517CREBBPc.3516C>A (p.Ser1172=)
c.3402C>A (p.Ser1134=)
c.2121C>A (p.Ser707=)
c.3471C>A (p.Ser1157=)
c.3099C>A (p.Ser1033=)
c.3462C>A (p.Ser1154=)
c.2763C>A (p.Ser921=)
c.3510C>A (p.Ser1170=)
16g.3757903G>ACA394568753CREBBPc.3515C>T (p.Ser1172Phe)
c.3401C>T (p.Ser1134Phe)
c.2120C>T (p.Ser707Phe)
c.3470C>T (p.Ser1157Phe)
c.3098C>T (p.Ser1033Phe)
c.3461C>T (p.Ser1154Phe)
c.2762C>T (p.Ser921Phe)
c.3509C>T (p.Ser1170Phe)
16g.3757903G>CCA394568754CREBBPc.3515C>G (p.Ser1172Cys)
c.3401C>G (p.Ser1134Cys)
c.2120C>G (p.Ser707Cys)
c.3470C>G (p.Ser1157Cys)
c.3098C>G (p.Ser1033Cys)
c.3461C>G (p.Ser1154Cys)
c.2762C>G (p.Ser921Cys)
c.3509C>G (p.Ser1170Cys)
16g.3757903G>TCA394568755CREBBPc.3515C>A (p.Ser1172Tyr)
c.3401C>A (p.Ser1134Tyr)
c.2120C>A (p.Ser707Tyr)
c.3470C>A (p.Ser1157Tyr)
c.3098C>A (p.Ser1033Tyr)
c.3461C>A (p.Ser1154Tyr)
c.2762C>A (p.Ser921Tyr)
c.3509C>A (p.Ser1170Tyr)
 dbSNP
16g.3757904A>CCA394568756CREBBPc.3514T>G (p.Ser1172Ala)
c.3400T>G (p.Ser1134Ala)
c.2119T>G (p.Ser707Ala)
c.3469T>G (p.Ser1157Ala)
c.3097T>G (p.Ser1033Ala)
c.3460T>G (p.Ser1154Ala)
c.2761T>G (p.Ser921Ala)
c.3508T>G (p.Ser1170Ala)
16g.3757904A>GCA394568757CREBBPc.3514T>C (p.Ser1172Pro)
c.3400T>C (p.Ser1134Pro)
c.2119T>C (p.Ser707Pro)
c.3469T>C (p.Ser1157Pro)
c.3097T>C (p.Ser1033Pro)
c.3460T>C (p.Ser1154Pro)
c.2761T>C (p.Ser921Pro)
c.3508T>C (p.Ser1170Pro)
16g.3757904A>TCA394568758CREBBPc.3514T>A (p.Ser1172Thr)
c.3400T>A (p.Ser1134Thr)
c.2119T>A (p.Ser707Thr)
c.3469T>A (p.Ser1157Thr)
c.3097T>A (p.Ser1033Thr)
c.3460T>A (p.Ser1154Thr)
c.2761T>A (p.Ser921Thr)
c.3508T>A (p.Ser1170Thr)
16g.3757905T>ACA493394518CREBBPc.3513A>T (p.Thr1171=)
c.3399A>T (p.Thr1133=)
c.2118A>T (p.Thr706=)
c.3468A>T (p.Thr1156=)
c.3096A>T (p.Thr1032=)
c.3459A>T (p.Thr1153=)
c.2760A>T (p.Thr920=)
c.3507A>T (p.Thr1169=)
16g.3757905T>CCA493394519CREBBPc.3513A>G (p.Thr1171=)
c.3399A>G (p.Thr1133=)
c.2118A>G (p.Thr706=)
c.3468A>G (p.Thr1156=)
c.3096A>G (p.Thr1032=)
c.3459A>G (p.Thr1153=)
c.2760A>G (p.Thr920=)
c.3507A>G (p.Thr1169=)
16g.3757905T>GCA493394520CREBBPc.3513A>C (p.Thr1171=)
c.3399A>C (p.Thr1133=)
c.2118A>C (p.Thr706=)
c.3468A>C (p.Thr1156=)
c.3096A>C (p.Thr1032=)
c.3459A>C (p.Thr1153=)
c.2760A>C (p.Thr920=)
c.3507A>C (p.Thr1169=)
16g.3757906G>ACA394568760CREBBPc.3512C>T (p.Thr1171Ile)
c.3398C>T (p.Thr1133Ile)
c.2117C>T (p.Thr706Ile)
c.3467C>T (p.Thr1156Ile)
c.3095C>T (p.Thr1032Ile)
c.3458C>T (p.Thr1153Ile)
c.2759C>T (p.Thr920Ile)
c.3506C>T (p.Thr1169Ile)
 COSMIC
16g.3757906G>CCA394568761CREBBPc.3512C>G (p.Thr1171Arg)
c.3398C>G (p.Thr1133Arg)
c.2117C>G (p.Thr706Arg)
c.3467C>G (p.Thr1156Arg)
c.3095C>G (p.Thr1032Arg)
c.3458C>G (p.Thr1153Arg)
c.2759C>G (p.Thr920Arg)
c.3506C>G (p.Thr1169Arg)
 ClinVar
16g.3757906G>TCA394568759CREBBPc.3512C>A (p.Thr1171Lys)
c.3398C>A (p.Thr1133Lys)
c.2117C>A (p.Thr706Lys)
c.3467C>A (p.Thr1156Lys)
c.3095C>A (p.Thr1032Lys)
c.3458C>A (p.Thr1153Lys)
c.2759C>A (p.Thr920Lys)
c.3506C>A (p.Thr1169Lys)
16g.3757907T>ACA394568762CREBBPc.3511A>T (p.Thr1171Ser)
c.3397A>T (p.Thr1133Ser)
c.2116A>T (p.Thr706Ser)
c.3466A>T (p.Thr1156Ser)
c.3094A>T (p.Thr1032Ser)
c.3457A>T (p.Thr1153Ser)
c.2758A>T (p.Thr920Ser)
c.3505A>T (p.Thr1169Ser)
16g.3757907T>CCA394568763CREBBPc.3511A>G (p.Thr1171Ala)
c.3397A>G (p.Thr1133Ala)
c.2116A>G (p.Thr706Ala)
c.3466A>G (p.Thr1156Ala)
c.3094A>G (p.Thr1032Ala)
c.3457A>G (p.Thr1153Ala)
c.2758A>G (p.Thr920Ala)
c.3505A>G (p.Thr1169Ala)
16g.3757907T>GCA394568764CREBBPc.3511A>C (p.Thr1171Pro)
c.3397A>C (p.Thr1133Pro)
c.2116A>C (p.Thr706Pro)
c.3466A>C (p.Thr1156Pro)
c.3094A>C (p.Thr1032Pro)
c.3457A>C (p.Thr1153Pro)
c.2758A>C (p.Thr920Pro)
c.3505A>C (p.Thr1169Pro)
16g.3757907dupCA2695222672CREBBPc.3511dup (p.Thr1171AsnfsTer6)
c.3397dup (p.Thr1133AsnfsTer6)
c.2116dup (p.Thr706AsnfsTer6)
c.3466dup (p.Thr1156AsnfsTer6)
c.3094dup (p.Thr1032AsnfsTer6)
c.3457dup (p.Thr1153AsnfsTer6)
c.2758dup (p.Thr920AsnfsTer6)
c.3505dup (p.Thr1169AsnfsTer6)

Number of alleles fetched