Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3757804_3757807del | CA2695222669 | CREBBP | c.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) | |
16 | g.3757806_3757812del | CA2695222668 | CREBBP | c.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 | |
16 | g.3757807A>C | CA394568529 | CREBBP | c.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) | |
16 | g.3757807A>G | CA394568530 | CREBBP | c.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) | |
16 | g.3757807A>T | CA394568531 | CREBBP | c.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) | |
16 | g.3757808C>A | CA394568532 | CREBBP | c.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) | |
16 | g.3757808C= | CA2202943142 | CREBBP | c.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=) | |
16 | g.3757808C>G | CA394568533 | CREBBP | c.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) | |
16 | g.3757808C>T | CA10603394 | CREBBP | c.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 |
16 | g.3757809C>A | CA394568535 | CREBBP | c.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) | |
16 | g.3757809C>G | CA394568534 | CREBBP | c.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) | |
16 | g.3757809C>T | CA493285194 | CREBBP | c.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 |
16 | g.3757810T>A | CA394568536 | CREBBP | c.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) | |
16 | g.3757810T>C | CA394568537 | CREBBP | c.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) | |
16 | g.3757810T>G | CA394568538 | CREBBP | c.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) | |
16 | g.3757811T>A | CA394568539 | CREBBP | c.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) | |
16 | g.3757811T>C | CA394568540 | CREBBP | c.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) | |
16 | g.3757811T>G | CA394568541 | CREBBP | c.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) | |
16 | g.3757812G>A | CA7869793 | CREBBP | c.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 |
16 | g.3757812G>C | CA493285197 | CREBBP | c.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 |
16 | g.3757812G= | CA2202943148 | CREBBP | c.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=) | |
16 | g.3757812G>T | CA276997856 | CREBBP | c.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 |
16 | g.3757813C>A | CA394568542 | CREBBP | c.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) | |
16 | g.3757813C= | CA2202943151 | CREBBP | c.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=) | |
16 | g.3757813C>G | CA394568543 | CREBBP | c.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) | |
16 | g.3757813C>T | CA7869794 | CREBBP | c.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 |
16 | g.3757814G>A | CA394568544 | CREBBP | c.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 |
16 | g.3757814G>C | CA394568545 | CREBBP | c.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 |
16 | g.3757814G= | CA2202943156 | CREBBP | c.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=) | |
16 | g.3757814G>T | CA394568546 | CREBBP | c.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) | |
16 | g.3757815T>A | CA493285204 | CREBBP | c.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 |
16 | g.3757815T>C | CA493285205 | CREBBP | c.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 |
16 | g.3757815T>G | CA493285206 | CREBBP | c.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=) | |
16 | g.3757816C>A | CA394568547 | CREBBP | c.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) | |
16 | g.3757816C>G | CA394568549 | CREBBP | c.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 |
16 | g.3757816C>T | CA394568548 | CREBBP | c.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) | |
16 | g.3757817C>A | CA394568550 | CREBBP | c.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) | |
16 | g.3757817C>G | CA394568552 | CREBBP | c.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) | |
16 | g.3757817C>T | CA394568551 | CREBBP | c.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) | |
16 | g.3757818A>C | CA394568553 | CREBBP | c.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) | |
16 | g.3757818A>G | CA493285209 | CREBBP | c.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=) | |
16 | g.3757818A>T | CA394568554 | CREBBP | c.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) | |
16 | g.3757819C>A | CA394568555 | CREBBP | c.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) | |
16 | g.3757819C>G | CA394568556 | CREBBP | c.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) | |
16 | g.3757819C>T | CA394568557 | CREBBP | c.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 |
16 | g.3757819_3757820delinsCA | CA2202943159 | CREBBP | c.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=) | |
16 | g.3757820del | CA1139664472 | CREBBP | c.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 |
16 | g.3757820A>C | CA394568558 | CREBBP | c.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) | |
16 | g.3757820A>G | CA394568559 | CREBBP | c.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) | |
16 | g.3757820A>T | CA394568560 | CREBBP | c.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) | |
16 | g.3757821G>A | CA493394465 | CREBBP | c.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 |
16 | g.3757821G>C | CA394568561 | CREBBP | c.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) | |
16 | g.3757821G>T | CA394568562 | CREBBP | c.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) | |
16 | g.3757822C>A | CA394568563 | CREBBP | c.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 |
16 | g.3757822C>G | CA394568564 | CREBBP | c.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) | |
16 | g.3757822C>T | CA394568565 | CREBBP | c.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 |
16 | g.3757823A>C | CA394568566 | CREBBP | c.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) | |
16 | g.3757823A>G | CA394568568 | CREBBP | c.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) | |
16 | g.3757823A>T | CA394568567 | CREBBP | c.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) | |
16 | g.3757824A= | CA2202943165 | CREBBP | c.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=) | |
16 | g.3757824A>C | CA394568569 | CREBBP | c.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) | |
16 | g.3757824A>G | CA7869795 | CREBBP | c.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 |
16 | g.3757824A>T | CA394568570 | CREBBP | c.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) | |
16 | g.3757825T>A | CA394568571 | CREBBP | c.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 |
16 | g.3757825T>C | CA394568572 | CREBBP | c.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) | |
16 | g.3757825T>G | CA394568573 | CREBBP | c.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) | |
16 | g.3757826A>C | CA394568574 | CREBBP | c.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) | |
16 | g.3757826A>G | CA394568575 | CREBBP | c.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) | |
16 | g.3757826A>T | CA394568576 | CREBBP | c.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) | |
16 | g.3757827T>A | CA276997857 | CREBBP | c.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 |
16 | g.3757827T>C | CA493394472 | CREBBP | c.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 |
16 | g.3757827T>G | CA493394473 | CREBBP | c.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=) | |
16 | g.3757827T= | CA2202943169 | CREBBP | c.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=) | |
16 | g.3757828C>A | CA394568579 | CREBBP | c.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 |
16 | g.3757828C= | CA2202943171 | CREBBP | c.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=) | |
16 | g.3757828C>G | CA394568578 | CREBBP | c.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 |
16 | g.3757828C>T | CA394568577 | CREBBP | c.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 |
16 | g.3757829C>A | CA394568580 | CREBBP | c.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) | |
16 | g.3757829C= | CA2202943176 | CREBBP | c.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=) | |
16 | g.3757829C>G | CA394568581 | CREBBP | c.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 |
16 | g.3757829C>T | CA394568582 | CREBBP | c.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 |
16 | g.3757830A>C | CA493394475 | CREBBP | c.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=) | |
16 | g.3757830A>G | CA493394477 | CREBBP | c.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 |
16 | g.3757830A>T | CA493394478 | CREBBP | c.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=) | |
16 | g.3757831A>C | CA394568583 | CREBBP | c.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) | |
16 | g.3757831A>G | CA394568584 | CREBBP | c.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) | |
16 | g.3757831A>T | CA394568585 | CREBBP | c.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) | |
16 | g.3757832G>A | CA394568586 | CREBBP | c.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) | |
16 | g.3757832G>C | CA394568587 | CREBBP | c.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) | |
16 | g.3757832G>T | CA394568588 | CREBBP | c.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) | |
16 | g.3757834dup | CA2838783049 | CREBBP | c.3586dup (p.Leu1196ProfsTer10) c.3472dup (p.Leu1158ProfsTer10) c.2191dup (p.Leu731ProfsTer10) c.3541dup (p.Leu1181ProfsTer10) c.3169dup (p.Leu1057ProfsTer10) c.3532dup (p.Leu1178ProfsTer10) c.2833dup (p.Leu945ProfsTer10) c.3580dup (p.Leu1194ProfsTer10) | |
16 | g.3757833G>A | CA7869796 | CREBBP | c.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 |
16 | g.3757833G>C | CA493394479 | CREBBP | c.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=) | |
16 | g.3757833G= | CA2202943180 | CREBBP | c.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=) | |
16 | g.3757833G>T | CA493394480 | CREBBP | c.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 |
16 | g.3757834G>A | CA394568589 | CREBBP | c.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) | |
16 | g.3757834G>C | CA394568590 | CREBBP | c.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 |
16 | g.3757834G>T | CA394568591 | CREBBP | c.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 |
16 | g.3757835A>C | CA394568592 | CREBBP | c.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) | |
16 | g.3757835A>G | CA394568594 | CREBBP | c.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) | |
16 | g.3757835A>T | CA394568593 | CREBBP | c.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) | |
16 | g.3757836C>A | CA394568595 | CREBBP | c.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 |
16 | g.3757836C= | CA2202943184 | CREBBP | c.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=) | |
16 | g.3757836C>G | CA394568596 | CREBBP | c.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 |
16 | g.3757836C>T | CA493394481 | CREBBP | c.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=) | |
16 | g.3757837T>A | CA394568597 | CREBBP | c.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) | |
16 | g.3757837T>C | CA7869797 | CREBBP | c.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 |
16 | g.3757837T>G | CA394568598 | CREBBP | c.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) | |
16 | g.3757837T= | CA2202943187 | CREBBP | c.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=) | |
16 | g.3757838G>A | CA394568599 | CREBBP | c.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 |
16 | g.3757838G>C | CA394568600 | CREBBP | c.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) | |
16 | g.3757838G>T | CA394568601 | CREBBP | c.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) | |
16 | g.3757839C>A | CA394568602 | CREBBP | c.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) | |
16 | g.3757839C>G | CA394568603 | CREBBP | c.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) | |
16 | g.3757839C>T | CA394568604 | CREBBP | c.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 |
16 | g.3757840A>C | CA394568606 | CREBBP | c.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) | |
16 | g.3757840A>G | CA394568607 | CREBBP | c.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) | |
16 | g.3757840A>T | CA394568605 | CREBBP | c.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) | |
16 | g.3757841T>A | CA394568609 | CREBBP | c.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 |
16 | g.3757841T>C | CA394568608 | CREBBP | c.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 |
16 | g.3757841T>G | CA394568610 | CREBBP | c.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) | |
16 | g.3757841T= | CA2202943190 | CREBBP | c.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=) | |
16 | g.3757842G>A | CA493394483 | CREBBP | c.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 |
16 | g.3757842G>C | CA7869798 | CREBBP | c.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 |
16 | g.3757842G= | CA2202943192 | CREBBP | c.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=) | |
16 | g.3757842G>T | CA493394482 | CREBBP | c.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=) | |
16 | g.3757842_3757923delinsGACAGGGTCAATTTCCTGCTCAAAGACCTCTGCAAGCTTACTGCAAAACTTATAGACTCGGGATGTCTTGCGATTATAGAGC | CA2202943193 | CREBBP | c.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=) | |
16 | g.3757843A>C | CA394568611 | CREBBP | c.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) | |
16 | g.3757843A>G | CA394568612 | CREBBP | c.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 |
16 | g.3757843A>T | CA394568613 | CREBBP | c.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 |
16 | g.3757843_3757923del | CA915949079 | CREBBP | c.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 |
16 | g.3757844C>A | CA394568614 | CREBBP | c.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) | |
16 | g.3757844C= | CA2202943203 | CREBBP | c.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=) | |
16 | g.3757844C>G | CA394568615 | CREBBP | c.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) | |
16 | g.3757844C>T | CA394568616 | CREBBP | c.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 |
16 | g.3757845A= | CA2202943207 | CREBBP | c.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=) | |
16 | g.3757845A>C | CA276997868 | CREBBP | c.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 |
16 | g.3757845A>G | CA493394484 | CREBBP | c.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 |
16 | g.3757845A>T | CA493394485 | CREBBP | c.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=) | |
16 | g.3757846G>A | CA394568617 | CREBBP | c.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) | |
16 | g.3757846G>C | CA394568619 | CREBBP | c.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 |
16 | g.3757846G= | CA2202943211 | CREBBP | c.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=) | |
16 | g.3757846G>T | CA394568618 | CREBBP | c.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) | |
16 | g.3757847G>A | CA394568620 | CREBBP | c.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 |
16 | g.3757847G>C | CA394568621 | CREBBP | c.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 |
16 | g.3757847G>T | CA394568622 | CREBBP | c.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 |
16 | g.3757848G>A | CA493394486 | CREBBP | c.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 |
16 | g.3757848G>C | CA394568623 | CREBBP | c.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) | |
16 | g.3757848G>T | CA394568624 | CREBBP | c.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) | |
16 | g.3757849T>A | CA394568625 | CREBBP | c.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) | |
16 | g.3757849T>C | CA394568627 | CREBBP | c.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) | |
16 | g.3757849T>G | CA394568626 | CREBBP | c.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) | |
16 | g.3757850C>A | CA394568628 | CREBBP | c.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) | |
16 | g.3757850C>G | CA394568629 | CREBBP | c.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) | |
16 | g.3757850C>T | CA394568630 | CREBBP | c.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) | |
16 | g.3757851A>C | CA394568631 | CREBBP | c.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) | |
16 | g.3757851A>G | CA493394487 | CREBBP | c.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 |
16 | g.3757851A>T | CA493394488 | CREBBP | c.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=) | |
16 | g.3757852A= | CA2202943215 | CREBBP | c.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=) | |
16 | g.3757852A>C | CA394568632 | CREBBP | c.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) | |
16 | g.3757852A>G | CA7869799 | CREBBP | c.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 |
16 | g.3757852A>T | CA394568633 | CREBBP | c.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) | |
16 | g.3757853T>A | CA394568634 | CREBBP | c.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 |
16 | g.3757853T>C | CA394568635 | CREBBP | c.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) | |
16 | g.3757853T>G | CA394568636 | CREBBP | c.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) | |
16 | g.3757854T>A | CA394568637 | CREBBP | c.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) | |
16 | g.3757854T>C | CA493394489 | CREBBP | c.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=) | |
16 | g.3757854T>G | CA394568638 | CREBBP | c.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) | |
16 | g.3757855T>A | CA394568639 | CREBBP | c.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) | |
16 | g.3757855T>C | CA394568641 | CREBBP | c.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) | |
16 | g.3757855T>G | CA394568640 | CREBBP | c.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) | |
16 | g.3757856C>A | CA394568642 | CREBBP | c.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 |
16 | g.3757856C>G | CA394568643 | CREBBP | c.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) | |
16 | g.3757856C>T | CA394568644 | CREBBP | c.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) | |
16 | g.3757857C>A | CA394568645 | CREBBP | c.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) | |
16 | g.3757857C>G | CA394568646 | CREBBP | c.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) | |
16 | g.3757857C>T | CA493394490 | CREBBP | c.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=) | |
16 | g.3757858T>A | CA394568647 | CREBBP | c.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) | |
16 | g.3757858T>C | CA394568648 | CREBBP | c.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 |
16 | g.3757858T>G | CA394568649 | CREBBP | c.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) | |
16 | g.3757858T= | CA2202943218 | CREBBP | c.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=) | |
16 | g.3757859G>A | CA394568650 | CREBBP | c.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) | |
16 | g.3757859G>C | CA394568651 | CREBBP | c.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 |
16 | g.3757859G= | CA2202943222 | CREBBP | c.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=) | |
16 | g.3757859G>T | CA394568652 | CREBBP | c.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) | |
16 | g.3757860C>A | CA394568653 | CREBBP | c.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 |
16 | g.3757860C>G | CA394568654 | CREBBP | c.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) | |
16 | g.3757860C>T | CA493394491 | CREBBP | c.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=) | |
16 | g.3757861T>A | CA394568657 | CREBBP | c.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) | |
16 | g.3757861T>C | CA394568655 | CREBBP | c.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) | |
16 | g.3757861T>G | CA394568656 | CREBBP | c.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) | |
16 | g.3757862C>A | CA394568658 | CREBBP | c.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) | |
16 | g.3757862C>G | CA394568659 | CREBBP | c.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 |
16 | g.3757862C>T | CA394568660 | CREBBP | c.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) | |
16 | g.3757863A= | CA2202943227 | CREBBP | c.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=) | |
16 | g.3757863A>C | CA394568661 | CREBBP | c.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) | |
16 | g.3757863A>G | CA493394492 | CREBBP | c.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 |
16 | g.3757863A>T | CA394568662 | CREBBP | c.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) | |
16 | g.3757864A>C | CA394568663 | CREBBP | c.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) | |
16 | g.3757864A>G | CA394568664 | CREBBP | c.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) | |
16 | g.3757864A>T | CA394568665 | CREBBP | c.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) | |
16 | g.3757865A>C | CA394568666 | CREBBP | c.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) | |
16 | g.3757865A>G | CA394568667 | CREBBP | c.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 |
16 | g.3757865A>T | CA394568668 | CREBBP | c.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 |
16 | g.3757866G>A | CA493394495 | CREBBP | c.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 |
16 | g.3757866G>C | CA493394494 | CREBBP | c.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 |
16 | g.3757866G>T | CA493394493 | CREBBP | c.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=) | |
16 | g.3757867A>C | CA394568669 | CREBBP | c.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) | |
16 | g.3757867A>G | CA394568671 | CREBBP | c.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) | |
16 | g.3757867A>T | CA394568670 | CREBBP | c.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) | |
16 | g.3757868C>A | CA394568672 | CREBBP | c.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) | |
16 | g.3757868C= | CA2202943234 | CREBBP | c.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=) | |
16 | g.3757868C>G | CA394568673 | CREBBP | c.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 |
16 | g.3757868C>T | CA394568674 | CREBBP | c.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 |
16 | g.3757869C>A | CA394568675 | CREBBP | c.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) | |
16 | g.3757869C>G | CA394568676 | CREBBP | c.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) | |
16 | g.3757869C>T | CA493394496 | CREBBP | c.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 |
16 | g.3757870T>A | CA394568677 | CREBBP | c.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) | |
16 | g.3757870T>C | CA394568678 | CREBBP | c.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) | |
16 | g.3757870T>G | CA394568679 | CREBBP | c.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) | |
16 | g.3757871C>A | CA394568680 | CREBBP | c.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) | |
16 | g.3757871C>G | CA394568682 | CREBBP | c.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 |
16 | g.3757871C>T | CA394568681 | CREBBP | c.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) | |
16 | g.3757871_3757872insGG | CA2695222670 | CREBBP | c.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?) | |
16 | g.3757872T>A | CA493394497 | CREBBP | c.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=) | |
16 | g.3757872T>C | CA7869800 | CREBBP | c.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 |
16 | g.3757872T>G | CA493394498 | CREBBP | c.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=) | |
16 | g.3757872T= | CA2202943237 | CREBBP | c.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=) | |
16 | g.3757872_3757873insCTACCG | CA2516688777 | CREBBP | c.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) | |
16 | g.3757873G>A | CA394568683 | CREBBP | c.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 |
16 | g.3757873G>C | CA394568684 | CREBBP | c.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) | |
16 | g.3757873G>T | CA394568685 | CREBBP | c.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) | |
16 | g.3757873dup | CA2695222671 | CREBBP | c.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) | |
16 | g.3757874C>A | CA394568686 | CREBBP | c.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 |
16 | g.3757874C>G | CA394568688 | CREBBP | c.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) | |
16 | g.3757874C>T | CA394568687 | CREBBP | c.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) | |
16 | g.3757874_3757875insGGACGACCTTTTGCCCTGCGATTCTCGCTCG | CA2521027093 | CREBBP | c.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) | |
16 | g.3757875A>C | CA493394499 | CREBBP | c.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=) | |
16 | g.3757875A>G | CA493394500 | CREBBP | c.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=) | |
16 | g.3757875A>T | CA493394501 | CREBBP | c.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=) | |
16 | g.3757876A>C | CA394568689 | CREBBP | c.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) | |
16 | g.3757876A>G | CA394568690 | CREBBP | c.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) | |
16 | g.3757876A>T | CA394568691 | CREBBP | c.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) | |
16 | g.3757876_3757877insAACTTCCAAGGACAAACCATTGCCCAAACTCCCGACTATATTACCCCCTATTTGGTAAACCTATCCCCTGGTGTACGACGTAC | CA2513947371 | CREBBP | c.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) | |
16 | g.3757877G>A | CA394568692 | CREBBP | c.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) | |
16 | g.3757877G>C | CA394568693 | CREBBP | c.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) | |
16 | g.3757877G>T | CA394568694 | CREBBP | c.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) | |
16 | g.3757878C>A | CA394568695 | CREBBP | c.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 |
16 | g.3757878C= | CA2202943241 | CREBBP | c.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=) | |
16 | g.3757878C>G | CA394568696 | CREBBP | c.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) | |
16 | g.3757878C>T | CA493394502 | CREBBP | c.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=) | |
16 | g.3757879T>A | CA394568697 | CREBBP | c.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) | |
16 | g.3757879T>C | CA394568698 | CREBBP | c.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) | |
16 | g.3757879T>G | CA394568699 | CREBBP | c.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) | |
16 | g.3757880T>A | CA394568700 | CREBBP | c.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) | |
16 | g.3757880T>C | CA394568702 | CREBBP | c.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) | |
16 | g.3757880T>G | CA394568701 | CREBBP | c.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) | |
16 | g.3757881A>C | CA394568703 | CREBBP | c.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) | |
16 | g.3757881A>G | CA493394503 | CREBBP | c.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=) | |
16 | g.3757881A>T | CA394568704 | CREBBP | c.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) | |
16 | g.3757882C>A | CA394568705 | CREBBP | c.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 |
16 | g.3757882C= | CA2202943244 | CREBBP | c.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=) | |
16 | g.3757882C>G | CA394568706 | CREBBP | c.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 |
16 | g.3757882C>T | CA394568707 | CREBBP | c.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 |
16 | g.3757883T>A | CA394568708 | CREBBP | c.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) | |
16 | g.3757883T>C | CA394568709 | CREBBP | c.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 |
16 | g.3757883T>G | CA394568710 | CREBBP | c.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) | |
16 | g.3757883T= | CA2202943246 | CREBBP | c.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=) | |
16 | g.3757884G>A | CA493394504 | CREBBP | c.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 |
16 | g.3757884G>C | CA394568711 | CREBBP | c.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) | |
16 | g.3757884G= | CA2202943251 | CREBBP | c.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=) | |
16 | g.3757884G>T | CA394568712 | CREBBP | c.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) | |
16 | g.3757885C>A | CA394568713 | CREBBP | c.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 |
16 | g.3757885C>G | CA394568714 | CREBBP | c.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) | |
16 | g.3757885C>T | CA394568715 | CREBBP | c.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) | |
16 | g.3757886A>C | CA394568716 | CREBBP | c.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) | |
16 | g.3757886A>G | CA394568718 | CREBBP | c.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) | |
16 | g.3757886A>T | CA394568717 | CREBBP | c.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) | |
16 | g.3757887A>C | CA394568719 | CREBBP | c.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) | |
16 | g.3757887A>G | CA493394505 | CREBBP | c.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 |
16 | g.3757887A>T | CA394568720 | CREBBP | c.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) | |
16 | g.3757888A>C | CA394568721 | CREBBP | c.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) | |
16 | g.3757888A>G | CA394568722 | CREBBP | c.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) | |
16 | g.3757888A>T | CA394568723 | CREBBP | c.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) | |
16 | g.3757889A= | CA2202943255 | CREBBP | c.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=) | |
16 | g.3757889A>C | CA394568724 | CREBBP | c.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) | |
16 | g.3757889A>G | CA394568725 | CREBBP | c.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 |
16 | g.3757889A>T | CA394568726 | CREBBP | c.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) | |
16 | g.3757890C>A | CA394568727 | CREBBP | c.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) | |
16 | g.3757890C>G | CA394568728 | CREBBP | c.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) | |
16 | g.3757890C>T | CA493394506 | CREBBP | c.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 |
16 | g.3757891T>A | CA394568730 | CREBBP | c.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 |
16 | g.3757891T>C | CA394568731 | CREBBP | c.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) | |
16 | g.3757891T>G | CA394568729 | CREBBP | c.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) | |
16 | g.3757898_3757921del | CA2580091114 | CREBBP | c.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 |
16 | g.3757892T>A | CA394568733 | CREBBP | c.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) | |
16 | g.3757892T>C | CA394568732 | CREBBP | c.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) | |
16 | g.3757892T>G | CA394568734 | CREBBP | c.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) | |
16 | g.3757893A>C | CA394568735 | CREBBP | c.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) | |
16 | g.3757893A>G | CA493394507 | CREBBP | c.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=) | |
16 | g.3757893A>T | CA394568736 | CREBBP | c.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) | |
16 | g.3757894T>A | CA394568737 | CREBBP | c.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 |
16 | g.3757894T>C | CA254814 | CREBBP | c.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 |
16 | g.3757894T>G | CA394568738 | CREBBP | c.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) | |
16 | g.3757894T= | CA2202943259 | CREBBP | c.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=) | |
16 | g.3757895A>C | CA394568739 | CREBBP | c.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) | |
16 | g.3757895A>G | CA394568740 | CREBBP | c.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) | |
16 | g.3757895A>T | CA394568741 | CREBBP | c.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) | |
16 | g.3757896G>A | CA493394508 | CREBBP | c.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=) | |
16 | g.3757896G>C | CA493394509 | CREBBP | c.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=) | |
16 | g.3757896G>T | CA493394510 | CREBBP | c.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=) | |
16 | g.3757897A>C | CA394568742 | CREBBP | c.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) | |
16 | g.3757897A>G | CA394568743 | CREBBP | c.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) | |
16 | g.3757897A>T | CA394568744 | CREBBP | c.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) | |
16 | g.3757898C>A | CA394568747 | CREBBP | c.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) | |
16 | g.3757898C>G | CA394568745 | CREBBP | c.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) | |
16 | g.3757898C>T | CA394568746 | CREBBP | c.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) | |
16 | g.3757899T>A | CA493394511 | CREBBP | c.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=) | |
16 | g.3757899T>C | CA493394512 | CREBBP | c.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=) | |
16 | g.3757899T>G | CA493394513 | CREBBP | c.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=) | |
16 | g.3757900C>A | CA394568748 | CREBBP | c.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) | |
16 | g.3757900C>G | CA394568749 | CREBBP | c.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) | |
16 | g.3757900C>T | CA394568750 | CREBBP | c.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 |
16 | g.3757901G>A | CA394568751 | CREBBP | c.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 |
16 | g.3757901G>C | CA394568752 | CREBBP | c.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) | |
16 | g.3757901G>T | CA493394514 | CREBBP | c.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=) | |
16 | g.3757902G>A | CA493394515 | CREBBP | c.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 |
16 | g.3757902G>C | CA493394516 | CREBBP | c.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=) | |
16 | g.3757902G>T | CA493394517 | CREBBP | c.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=) | |
16 | g.3757903G>A | CA394568753 | CREBBP | c.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) | |
16 | g.3757903G>C | CA394568754 | CREBBP | c.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) | |
16 | g.3757903G>T | CA394568755 | CREBBP | c.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 |
16 | g.3757904A>C | CA394568756 | CREBBP | c.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) | |
16 | g.3757904A>G | CA394568757 | CREBBP | c.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) | |
16 | g.3757904A>T | CA394568758 | CREBBP | c.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) | |
16 | g.3757905T>A | CA493394518 | CREBBP | c.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=) | |
16 | g.3757905T>C | CA493394519 | CREBBP | c.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=) | |
16 | g.3757905T>G | CA493394520 | CREBBP | c.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=) | |
16 | g.3757906G>A | CA394568760 | CREBBP | c.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 |
16 | g.3757906G>C | CA394568761 | CREBBP | c.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 |
16 | g.3757906G>T | CA394568759 | CREBBP | c.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) | |
16 | g.3757907T>A | CA394568762 | CREBBP | c.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) | |
16 | g.3757907T>C | CA394568763 | CREBBP | c.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) | |
16 | g.3757907T>G | CA394568764 | CREBBP | c.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) | |
16 | g.3757907dup | CA2695222672 | CREBBP | c.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) |