Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3810679T>A | CA394566000 | CREBBP | c.899A>T (p.Lys300Ile) c.845A>T (p.Lys282Ile) c.146A>T (p.Lys49Ile) | |
16 | g.3810679T>C | CA394565999 | CREBBP | c.899A>G (p.Lys300Arg) c.845A>G (p.Lys282Arg) c.146A>G (p.Lys49Arg) | |
16 | g.3810679T>G | CA394565998 | CREBBP | c.899A>C (p.Lys300Thr) c.845A>C (p.Lys282Thr) c.146A>C (p.Lys49Thr) | |
16 | g.3810680T>A | CA394566001 | CREBBP | c.898A>T (p.Lys300Ter) c.844A>T (p.Lys282Ter) c.145A>T (p.Lys49Ter) | |
16 | g.3810680T>C | CA394566002 | CREBBP | c.898A>G (p.Lys300Glu) c.844A>G (p.Lys282Glu) c.145A>G (p.Lys49Glu) | |
16 | g.3810680T>G | CA394566003 | CREBBP | c.898A>C (p.Lys300Gln) c.844A>C (p.Lys282Gln) c.145A>C (p.Lys49Gln) | |
16 | g.3810681G>A | CA493277621 | CREBBP | c.897C>T (p.Ser299=) c.843C>T (p.Ser281=) c.144C>T (p.Ser48=) | dbSNP |
16 | g.3810681G>C | CA394566004 | CREBBP | c.897C>G (p.Ser299Arg) c.843C>G (p.Ser281Arg) c.144C>G (p.Ser48Arg) | gnomAD v4 |
16 | g.3810681G>T | CA394566005 | CREBBP | c.897C>A (p.Ser299Arg) c.843C>A (p.Ser281Arg) c.144C>A (p.Ser48Arg) | |
16 | g.3810682C>A | CA394566008 | CREBBP | c.896G>T (p.Ser299Ile) c.842G>T (p.Ser281Ile) c.143G>T (p.Ser48Ile) | |
16 | g.3810682C>G | CA394566007 | CREBBP | c.896G>C (p.Ser299Thr) c.842G>C (p.Ser281Thr) c.143G>C (p.Ser48Thr) | |
16 | g.3810682C>T | CA394566006 | CREBBP | c.896G>A (p.Ser299Asn) c.842G>A (p.Ser281Asn) c.143G>A (p.Ser48Asn) | dbSNP |
16 | g.3810683T>A | CA394566009 | CREBBP | c.895A>T (p.Ser299Cys) c.841A>T (p.Ser281Cys) c.142A>T (p.Ser48Cys) | |
16 | g.3810683T>C | CA158188 | CREBBP | c.895A>G (p.Ser299Gly) c.841A>G (p.Ser281Gly) c.142A>G (p.Ser48Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810683T>G | CA394566010 | CREBBP | c.895A>C (p.Ser299Arg) c.841A>C (p.Ser281Arg) c.142A>C (p.Ser48Arg) | |
16 | g.3810683T= | CA2202971845 | CREBBP | c.895A= (p.Ser299=) c.841A= (p.Ser281=) c.142A= (p.Ser48=) | |
16 | g.3810683_3810684insC | CA2536587226 | CREBBP | c.894_895insG (p.Ser299GlufsTer?) c.840_841insG (p.Ser281GlufsTer?) c.141_142insG (p.Ser48GlufsTer?) | |
16 | g.3810684G>A | CA493277622 | CREBBP | c.894C>T (p.Ala298=) c.840C>T (p.Ala280=) c.141C>T (p.Ala47=) | |
16 | g.3810684G>C | CA493277623 | CREBBP | c.894C>G (p.Ala298=) c.840C>G (p.Ala280=) c.141C>G (p.Ala47=) | |
16 | g.3810684G>T | CA493277624 | CREBBP | c.894C>A (p.Ala298=) c.840C>A (p.Ala280=) c.141C>A (p.Ala47=) | |
16 | g.3810685G>A | CA394566011 | CREBBP | c.893C>T (p.Ala298Val) c.839C>T (p.Ala280Val) c.140C>T (p.Ala47Val) | dbSNP |
16 | g.3810685G>C | CA394566012 | CREBBP | c.893C>G (p.Ala298Gly) c.839C>G (p.Ala280Gly) c.140C>G (p.Ala47Gly) | |
16 | g.3810685G>T | CA394566013 | CREBBP | c.893C>A (p.Ala298Asp) c.839C>A (p.Ala280Asp) c.140C>A (p.Ala47Asp) | |
16 | g.3810686C>A | CA394566016 | CREBBP | c.892G>T (p.Ala298Ser) c.838G>T (p.Ala280Ser) c.139G>T (p.Ala47Ser) | |
16 | g.3810686C>G | CA394566014 | CREBBP | c.892G>C (p.Ala298Pro) c.838G>C (p.Ala280Pro) c.139G>C (p.Ala47Pro) | |
16 | g.3810686C>T | CA394566015 | CREBBP | c.892G>A (p.Ala298Thr) c.838G>A (p.Ala280Thr) c.139G>A (p.Ala47Thr) | |
16 | g.3810687del | CA2537323876 | CREBBP | c.891del (p.Ala298ProfsTer?) c.837del (p.Ala280ProfsTer?) c.138del (p.Ala47ProfsTer?) | |
16 | g.3810687T>A | CA394566017 | CREBBP | c.891A>T (p.Leu297Phe) c.837A>T (p.Leu279Phe) c.138A>T (p.Leu46Phe) | |
16 | g.3810687T>C | CA493277625 | CREBBP | c.891A>G (p.Leu297=) c.837A>G (p.Leu279=) c.138A>G (p.Leu46=) | gnomAD v3 gnomAD v4 |
16 | g.3810687T>G | CA394566018 | CREBBP | c.891A>C (p.Leu297Phe) c.837A>C (p.Leu279Phe) c.138A>C (p.Leu46Phe) | |
16 | g.3810688A>C | CA394566019 | CREBBP | c.890T>G (p.Leu297Ter) c.836T>G (p.Leu279Ter) c.137T>G (p.Leu46Ter) | |
16 | g.3810688A>G | CA394566020 | CREBBP | c.890T>C (p.Leu297Ser) c.836T>C (p.Leu279Ser) c.137T>C (p.Leu46Ser) | |
16 | g.3810688A>T | CA394566021 | CREBBP | c.890T>A (p.Leu297Ter) c.836T>A (p.Leu279Ter) c.137T>A (p.Leu46Ter) | |
16 | g.3810689A>C | CA394566022 | CREBBP | c.889T>G (p.Leu297Val) c.835T>G (p.Leu279Val) c.136T>G (p.Leu46Val) | |
16 | g.3810689A>G | CA493277626 | CREBBP | c.889T>C (p.Leu297=) c.835T>C (p.Leu279=) c.136T>C (p.Leu46=) | |
16 | g.3810689A>T | CA394566023 | CREBBP | c.889T>A (p.Leu297Ile) c.835T>A (p.Leu279Ile) c.136T>A (p.Leu46Ile) | |
16 | g.3810690C>A | CA394566024 | CREBBP | c.888G>T (p.Gln296His) c.834G>T (p.Gln278His) c.135G>T (p.Gln45His) | |
16 | g.3810690C>G | CA394566025 | CREBBP | c.888G>C (p.Gln296His) c.834G>C (p.Gln278His) c.135G>C (p.Gln45His) | |
16 | g.3810690C>T | CA493277627 | CREBBP | c.888G>A (p.Gln296=) c.834G>A (p.Gln278=) c.135G>A (p.Gln45=) | gnomAD v4 |
16 | g.3810691T>A | CA394566026 | CREBBP | c.887A>T (p.Gln296Leu) c.833A>T (p.Gln278Leu) c.134A>T (p.Gln45Leu) | |
16 | g.3810691T>C | CA394566027 | CREBBP | c.887A>G (p.Gln296Arg) c.833A>G (p.Gln278Arg) c.134A>G (p.Gln45Arg) | gnomAD v4 |
16 | g.3810691T>G | CA394566028 | CREBBP | c.887A>C (p.Gln296Pro) c.833A>C (p.Gln278Pro) c.134A>C (p.Gln45Pro) | dbSNP |
16 | g.3810691T= | CA2202971846 | CREBBP | c.887A= (p.Gln296=) c.833A= (p.Gln278=) c.134A= (p.Gln45=) | |
16 | g.3810692G>A | CA394566029 | CREBBP | c.886C>T (p.Gln296Ter) c.832C>T (p.Gln278Ter) c.133C>T (p.Gln45Ter) | |
16 | g.3810692G>C | CA394566031 | CREBBP | c.886C>G (p.Gln296Glu) c.832C>G (p.Gln278Glu) c.133C>G (p.Gln45Glu) | |
16 | g.3810692G>T | CA394566030 | CREBBP | c.886C>A (p.Gln296Lys) c.832C>A (p.Gln278Lys) c.133C>A (p.Gln45Lys) | dbSNP gnomAD v4 |
16 | g.3810696dup | CA913190688 | CREBBP | c.886dup (p.Gln296ProfsTer?) c.832dup (p.Gln278ProfsTer?) c.133dup (p.Gln45ProfsTer?) | ClinVar dbSNP |
16 | g.3810696del | CA2731627059 | CREBBP | c.886del (p.Gln296SerfsTer2) c.832del (p.Gln278SerfsTer2) c.133del (p.Gln45SerfsTer2) | dbSNP |
16 | g.3810695_3810696del | CA2695222700 | CREBBP | c.885_886del (p.Gln296ValfsTer?) c.831_832del (p.Gln278ValfsTer?) c.132_133del (p.Gln45ValfsTer?) | |
16 | g.3810693G>A | CA493277630 | CREBBP | c.885C>T (p.Pro295=) c.831C>T (p.Pro277=) c.132C>T (p.Pro44=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810693G>C | CA493277629 | CREBBP | c.885C>G (p.Pro295=) c.831C>G (p.Pro277=) c.132C>G (p.Pro44=) | |
16 | g.3810693G= | CA2202971847 | CREBBP | c.885C= (p.Pro295=) c.831C= (p.Pro277=) c.132C= (p.Pro44=) | |
16 | g.3810693G>T | CA493277628 | CREBBP | c.885C>A (p.Pro295=) c.831C>A (p.Pro277=) c.132C>A (p.Pro44=) | |
16 | g.3810694G>A | CA394566032 | CREBBP | c.884C>T (p.Pro295Leu) c.830C>T (p.Pro277Leu) c.131C>T (p.Pro44Leu) | ClinVar |
16 | g.3810694G>C | CA394566033 | CREBBP | c.884C>G (p.Pro295Arg) c.830C>G (p.Pro277Arg) c.131C>G (p.Pro44Arg) | gnomAD v4 |
16 | g.3810694G>T | CA394566034 | CREBBP | c.884C>A (p.Pro295His) c.830C>A (p.Pro277His) c.131C>A (p.Pro44His) | |
16 | g.3810695G>A | CA394566035 | CREBBP | c.883C>T (p.Pro295Ser) c.829C>T (p.Pro277Ser) c.130C>T (p.Pro44Ser) | |
16 | g.3810695G>C | CA394566036 | CREBBP | c.883C>G (p.Pro295Ala) c.829C>G (p.Pro277Ala) c.130C>G (p.Pro44Ala) | |
16 | g.3810695G= | CA2202971848 | CREBBP | c.883C= (p.Pro295=) c.829C= (p.Pro277=) c.130C= (p.Pro44=) | |
16 | g.3810695G>T | CA394566037 | CREBBP | c.883C>A (p.Pro295Thr) c.829C>A (p.Pro277Thr) c.130C>A (p.Pro44Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3810696G>A | CA493277631 | CREBBP | c.882C>T (p.Asn294=) c.828C>T (p.Asn276=) c.129C>T (p.Asn43=) | dbSNP gnomAD v4 |
16 | g.3810696G>C | CA394566038 | CREBBP | c.882C>G (p.Asn294Lys) c.828C>G (p.Asn276Lys) c.129C>G (p.Asn43Lys) | |
16 | g.3810696G>T | CA394566039 | CREBBP | c.882C>A (p.Asn294Lys) c.828C>A (p.Asn276Lys) c.129C>A (p.Asn43Lys) | ClinVar gnomAD v4 |
16 | g.3810697T>A | CA394566040 | CREBBP | c.881A>T (p.Asn294Ile) c.827A>T (p.Asn276Ile) c.128A>T (p.Asn43Ile) | |
16 | g.3810697T>C | CA394566041 | CREBBP | c.881A>G (p.Asn294Ser) c.827A>G (p.Asn276Ser) c.128A>G (p.Asn43Ser) | |
16 | g.3810697T>G | CA394566042 | CREBBP | c.881A>C (p.Asn294Thr) c.827A>C (p.Asn276Thr) c.128A>C (p.Asn43Thr) | |
16 | g.3810698dup | CA2695222701 | CREBBP | c.881dup (p.Asn294LysfsTer?) c.827dup (p.Asn276LysfsTer?) c.128dup (p.Asn43LysfsTer?) | |
16 | g.3810698T>A | CA394566045 | CREBBP | c.880A>T (p.Asn294Tyr) c.826A>T (p.Asn276Tyr) c.127A>T (p.Asn43Tyr) | |
16 | g.3810698T>C | CA394566044 | CREBBP | c.880A>G (p.Asn294Asp) c.826A>G (p.Asn276Asp) c.127A>G (p.Asn43Asp) | |
16 | g.3810698T>G | CA394566043 | CREBBP | c.880A>C (p.Asn294His) c.826A>C (p.Asn276His) c.127A>C (p.Asn43His) | |
16 | g.3810699C>A | CA493277632 | CREBBP | c.879G>T (p.Val293=) c.825G>T (p.Val275=) c.126G>T (p.Val42=) | |
16 | g.3810699C= | CA2202971849 | CREBBP | c.879G= (p.Val293=) c.825G= (p.Val275=) c.126G= (p.Val42=) | |
16 | g.3810699C>G | CA493277633 | CREBBP | c.879G>C (p.Val293=) c.825G>C (p.Val275=) c.126G>C (p.Val42=) | |
16 | g.3810699C>T | CA7870567 | CREBBP | c.879G>A (p.Val293=) c.825G>A (p.Val275=) c.126G>A (p.Val42=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810700A= | CA2202971850 | CREBBP | c.878T= (p.Val293=) c.824T= (p.Val275=) c.125T= (p.Val42=) | |
16 | g.3810700A>C | CA394566046 | CREBBP | c.878T>G (p.Val293Gly) c.824T>G (p.Val275Gly) c.125T>G (p.Val42Gly) | |
16 | g.3810700A>G | CA394566047 | CREBBP | c.878T>C (p.Val293Ala) c.824T>C (p.Val275Ala) c.125T>C (p.Val42Ala) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.3810700A>T | CA394566048 | CREBBP | c.878T>A (p.Val293Glu) c.824T>A (p.Val275Glu) c.125T>A (p.Val42Glu) | ClinVar dbSNP |
16 | g.3810701C>A | CA394566049 | CREBBP | c.877G>T (p.Val293Leu) c.823G>T (p.Val275Leu) c.124G>T (p.Val42Leu) | |
16 | g.3810701C= | CA2202971851 | CREBBP | c.877G= (p.Val293=) c.823G= (p.Val275=) c.124G= (p.Val42=) | |
16 | g.3810701C>G | CA394566050 | CREBBP | c.877G>C (p.Val293Leu) c.823G>C (p.Val275Leu) c.124G>C (p.Val42Leu) | |
16 | g.3810701C>T | CA394566051 | CREBBP | c.877G>A (p.Val293Met) c.823G>A (p.Val275Met) c.124G>A (p.Val42Met) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3810702T>A | CA493277634 | CREBBP | c.876A>T (p.Gly292=) c.822A>T (p.Gly274=) c.123A>T (p.Gly41=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810702T>C | CA493277635 | CREBBP | c.876A>G (p.Gly292=) c.822A>G (p.Gly274=) c.123A>G (p.Gly41=) | |
16 | g.3810702T>G | CA493277636 | CREBBP | c.876A>C (p.Gly292=) c.822A>C (p.Gly274=) c.123A>C (p.Gly41=) | |
16 | g.3810702T= | CA2202971852 | CREBBP | c.876A= (p.Gly292=) c.822A= (p.Gly274=) c.123A= (p.Gly41=) | |
16 | g.3810703C>A | CA7870568 | CREBBP | c.875G>T (p.Gly292Val) c.821G>T (p.Gly274Val) c.122G>T (p.Gly41Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3810703C= | CA2202971853 | CREBBP | c.875G= (p.Gly292=) c.821G= (p.Gly274=) c.122G= (p.Gly41=) | |
16 | g.3810703C>G | CA394566052 | CREBBP | c.875G>C (p.Gly292Ala) c.821G>C (p.Gly274Ala) c.122G>C (p.Gly41Ala) | |
16 | g.3810703C>T | CA394566053 | CREBBP | c.875G>A (p.Gly292Glu) c.821G>A (p.Gly274Glu) c.122G>A (p.Gly41Glu) | ClinVar gnomAD v4 |
16 | g.3810704C>A | CA394566054 | CREBBP | c.874G>T (p.Gly292Ter) c.820G>T (p.Gly274Ter) c.121G>T (p.Gly41Ter) | |
16 | g.3810704C>G | CA394566055 | CREBBP | c.874G>C (p.Gly292Arg) c.820G>C (p.Gly274Arg) c.121G>C (p.Gly41Arg) | |
16 | g.3810704C>T | CA394566056 | CREBBP | c.874G>A (p.Gly292Arg) c.820G>A (p.Gly274Arg) c.121G>A (p.Gly41Arg) | ClinVar dbSNP gnomAD v4 |
16 | g.3810705A>C | CA493277637 | CREBBP | c.873T>G (p.Thr291=) c.819T>G (p.Thr273=) c.120T>G (p.Thr40=) | |
16 | g.3810705A>G | CA493277638 | CREBBP | c.873T>C (p.Thr291=) c.819T>C (p.Thr273=) c.120T>C (p.Thr40=) | |
16 | g.3810705A>T | CA493277639 | CREBBP | c.873T>A (p.Thr291=) c.819T>A (p.Thr273=) c.120T>A (p.Thr40=) | |
16 | g.3810706G>A | CA394566059 | CREBBP | c.872C>T (p.Thr291Ile) c.818C>T (p.Thr273Ile) c.119C>T (p.Thr40Ile) | |
16 | g.3810706G>C | CA394566058 | CREBBP | c.872C>G (p.Thr291Ser) c.818C>G (p.Thr273Ser) c.119C>G (p.Thr40Ser) | dbSNP gnomAD v2 |
16 | g.3810706G= | CA2202971854 | CREBBP | c.872C= (p.Thr291=) c.818C= (p.Thr273=) c.119C= (p.Thr40=) | |
16 | g.3810706G>T | CA394566057 | CREBBP | c.872C>A (p.Thr291Asn) c.818C>A (p.Thr273Asn) c.119C>A (p.Thr40Asn) | |
16 | g.3810707T>A | CA394566061 | CREBBP | c.871A>T (p.Thr291Ser) c.817A>T (p.Thr273Ser) c.118A>T (p.Thr40Ser) | |
16 | g.3810707T>C | CA394566060 | CREBBP | c.871A>G (p.Thr291Ala) c.817A>G (p.Thr273Ala) c.118A>G (p.Thr40Ala) | gnomAD v4 COSMIC |
16 | g.3810707T>G | CA394566062 | CREBBP | c.871A>C (p.Thr291Pro) c.817A>C (p.Thr273Pro) c.118A>C (p.Thr40Pro) | dbSNP |
16 | g.3810708G>A | CA493277640 | CREBBP | c.870C>T (p.Ala290=) c.816C>T (p.Ala272=) c.117C>T (p.Ala39=) | gnomAD v4 |
16 | g.3810708G>C | CA493277641 | CREBBP | c.870C>G (p.Ala290=) c.816C>G (p.Ala272=) c.117C>G (p.Ala39=) | |
16 | g.3810708G>T | CA493277642 | CREBBP | c.870C>A (p.Ala290=) c.816C>A (p.Ala272=) c.117C>A (p.Ala39=) | |
16 | g.3810709G>A | CA394566063 | CREBBP | c.869C>T (p.Ala290Val) c.815C>T (p.Ala272Val) c.116C>T (p.Ala39Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810709G>C | CA394566064 | CREBBP | c.869C>G (p.Ala290Gly) c.815C>G (p.Ala272Gly) c.116C>G (p.Ala39Gly) | |
16 | g.3810709G= | CA2202971855 | CREBBP | c.869C= (p.Ala290=) c.815C= (p.Ala272=) c.116C= (p.Ala39=) | |
16 | g.3810709G>T | CA394566065 | CREBBP | c.869C>A (p.Ala290Asp) c.815C>A (p.Ala272Asp) c.116C>A (p.Ala39Asp) | |
16 | g.3810710C>A | CA394566066 | CREBBP | c.868G>T (p.Ala290Ser) c.814G>T (p.Ala272Ser) c.115G>T (p.Ala39Ser) | |
16 | g.3810710C= | CA2202971856 | CREBBP | c.868G= (p.Ala290=) c.814G= (p.Ala272=) c.115G= (p.Ala39=) | |
16 | g.3810710C>G | CA394566067 | CREBBP | c.868G>C (p.Ala290Pro) c.814G>C (p.Ala272Pro) c.115G>C (p.Ala39Pro) | |
16 | g.3810710C>T | CA7870569 | CREBBP | c.868G>A (p.Ala290Thr) c.814G>A (p.Ala272Thr) c.115G>A (p.Ala39Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3810711T>A | CA493277643 | CREBBP | c.867A>T (p.Gly289=) c.813A>T (p.Gly271=) c.114A>T (p.Gly38=) | |
16 | g.3810711T>C | CA493277644 | CREBBP | c.867A>G (p.Gly289=) c.813A>G (p.Gly271=) c.114A>G (p.Gly38=) | |
16 | g.3810711T>G | CA493277645 | CREBBP | c.867A>C (p.Gly289=) c.813A>C (p.Gly271=) c.114A>C (p.Gly38=) | |
16 | g.3810712C>A | CA394566070 | CREBBP | c.866G>T (p.Gly289Val) c.812G>T (p.Gly271Val) c.113G>T (p.Gly38Val) | |
16 | g.3810712C>G | CA394566069 | CREBBP | c.866G>C (p.Gly289Ala) c.812G>C (p.Gly271Ala) c.113G>C (p.Gly38Ala) | |
16 | g.3810712C>T | CA394566068 | CREBBP | c.866G>A (p.Gly289Glu) c.812G>A (p.Gly271Glu) c.113G>A (p.Gly38Glu) | dbSNP |
16 | g.3810713C>A | CA394566071 | CREBBP | c.865G>T (p.Gly289Ter) c.811G>T (p.Gly271Ter) c.112G>T (p.Gly38Ter) | |
16 | g.3810713C= | CA2202971857 | CREBBP | c.865G= (p.Gly289=) c.811G= (p.Gly271=) c.112G= (p.Gly38=) | |
16 | g.3810713C>G | CA394566072 | CREBBP | c.865G>C (p.Gly289Arg) c.811G>C (p.Gly271Arg) c.112G>C (p.Gly38Arg) | |
16 | g.3810713C>T | CA7870570 | CREBBP | c.865G>A (p.Gly289Arg) c.811G>A (p.Gly271Arg) c.112G>A (p.Gly38Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3810714C>A | CA394566073 | CREBBP | c.864G>T (p.Met288Ile) c.810G>T (p.Met270Ile) c.111G>T (p.Met37Ile) | |
16 | g.3810714C>G | CA394566074 | CREBBP | c.864G>C (p.Met288Ile) c.810G>C (p.Met270Ile) c.111G>C (p.Met37Ile) | |
16 | g.3810714C>T | CA394566075 | CREBBP | c.864G>A (p.Met288Ile) c.810G>A (p.Met270Ile) c.111G>A (p.Met37Ile) | |
16 | g.3810715A>C | CA394566076 | CREBBP | c.863T>G (p.Met288Arg) c.809T>G (p.Met270Arg) c.110T>G (p.Met37Arg) | |
16 | g.3810715A>G | CA394566078 | CREBBP | c.863T>C (p.Met288Thr) c.809T>C (p.Met270Thr) c.110T>C (p.Met37Thr) | gnomAD v4 |
16 | g.3810715A>T | CA394566077 | CREBBP | c.863T>A (p.Met288Lys) c.809T>A (p.Met270Lys) c.110T>A (p.Met37Lys) | |
16 | g.3810716T>A | CA7870572 | CREBBP | c.862A>T (p.Met288Leu) c.808A>T (p.Met270Leu) c.109A>T (p.Met37Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3810716T>C | CA7870571 | CREBBP | c.862A>G (p.Met288Val) c.808A>G (p.Met270Val) c.109A>G (p.Met37Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3810716T>G | CA394566079 | CREBBP | c.862A>C (p.Met288Leu) c.808A>C (p.Met270Leu) c.109A>C (p.Met37Leu) | |
16 | g.3810716T= | CA2202971858 | CREBBP | c.862A= (p.Met288=) c.808A= (p.Met270=) c.109A= (p.Met37=) | |
16 | g.3810717T>A | CA493277648 | CREBBP | c.861A>T (p.Pro287=) c.807A>T (p.Pro269=) c.108A>T (p.Pro36=) | |
16 | g.3810717T>C | CA493277646 | CREBBP | c.861A>G (p.Pro287=) c.807A>G (p.Pro269=) c.108A>G (p.Pro36=) | gnomAD v4 |
16 | g.3810717T>G | CA493277647 | CREBBP | c.861A>C (p.Pro287=) c.807A>C (p.Pro269=) c.108A>C (p.Pro36=) | |
16 | g.3810718G>A | CA394566080 | CREBBP | c.860C>T (p.Pro287Leu) c.806C>T (p.Pro269Leu) c.107C>T (p.Pro36Leu) | ClinVar |
16 | g.3810718G>C | CA394566081 | CREBBP | c.860C>G (p.Pro287Arg) c.806C>G (p.Pro269Arg) c.107C>G (p.Pro36Arg) | |
16 | g.3810718G>T | CA394566082 | CREBBP | c.860C>A (p.Pro287Gln) c.806C>A (p.Pro269Gln) c.107C>A (p.Pro36Gln) | |
16 | g.3810718_3810719delinsCC | CA1139664456 | CREBBP | c.859_860delinsGG (p.Pro287Gly) c.805_806delinsGG (p.Pro269Gly) c.106_107delinsGG (p.Pro36Gly) | ClinVar |
16 | g.3810719G>A | CA394566083 | CREBBP | c.859C>T (p.Pro287Ser) c.805C>T (p.Pro269Ser) c.106C>T (p.Pro36Ser) | dbSNP |
16 | g.3810719G>C | CA394566084 | CREBBP | c.859C>G (p.Pro287Ala) c.805C>G (p.Pro269Ala) c.106C>G (p.Pro36Ala) | |
16 | g.3810719G>T | CA394566085 | CREBBP | c.859C>A (p.Pro287Thr) c.805C>A (p.Pro269Thr) c.106C>A (p.Pro36Thr) | |
16 | g.3810720C>A | CA394566086 | CREBBP | c.858G>T (p.Gln286His) n.100G>T c.804G>T (p.Gln268His) c.105G>T (p.Gln35His) | COSMIC |
16 | g.3810720C= | CA2202971859 | CREBBP | c.858G= (p.Gln286=) n.100G= c.804G= (p.Gln268=) c.105G= (p.Gln35=) | |
16 | g.3810720C>G | CA394566087 | CREBBP | c.858G>C (p.Gln286His) n.100G>C c.804G>C (p.Gln268His) c.105G>C (p.Gln35His) | |
16 | g.3810720C>T | CA493277649 | CREBBP | c.858G>A (p.Gln286=) n.100G>A c.804G>A (p.Gln268=) c.105G>A (p.Gln35=) | ClinVar dbSNP gnomAD v4 |
16 | g.3810721T>A | CA394566088 | CREBBP | c.857A>T (p.Gln286Leu) n.99A>T c.803A>T (p.Gln268Leu) c.104A>T (p.Gln35Leu) | |
16 | g.3810721T>C | CA394566090 | CREBBP | c.857A>G (p.Gln286Arg) n.99A>G c.803A>G (p.Gln268Arg) c.104A>G (p.Gln35Arg) | |
16 | g.3810721T>G | CA394566089 | CREBBP | c.857A>C (p.Gln286Pro) n.99A>C c.803A>C (p.Gln268Pro) c.104A>C (p.Gln35Pro) | |
16 | g.3810721T= | CA2202971860 | CREBBP | c.857A= (p.Gln286=) n.99A= c.803A= (p.Gln268=) c.104A= (p.Gln35=) | |
16 | g.3810722G>A | CA394566091 | CREBBP | c.856C>T (p.Gln286Ter) n.98C>T c.802C>T (p.Gln268Ter) c.103C>T (p.Gln35Ter) | dbSNP |
16 | g.3810722G>C | CA394566092 | CREBBP | c.856C>G (p.Gln286Glu) n.98C>G c.802C>G (p.Gln268Glu) c.103C>G (p.Gln35Glu) | |
16 | g.3810722G>T | CA394566093 | CREBBP | c.856C>A (p.Gln286Lys) n.98C>A c.802C>A (p.Gln268Lys) c.103C>A (p.Gln35Lys) | |
16 | g.3810722dup | CA919643374 | CREBBP | c.856dup (p.Gln286ProfsTer?) n.98dup c.802dup (p.Gln268ProfsTer?) c.103dup (p.Gln35ProfsTer?) | dbSNP |
16 | g.3810723C>A | CA493277650 | CREBBP | c.855G>T (p.Gly285=) n.97G>T c.801G>T (p.Gly267=) c.102G>T (p.Gly34=) | dbSNP |
16 | g.3810723C= | CA2202971861 | CREBBP | c.855G= (p.Gly285=) n.97G= c.801G= (p.Gly267=) c.102G= (p.Gly34=) | |
16 | g.3810723C>G | CA493277652 | CREBBP | c.855G>C (p.Gly285=) n.97G>C c.801G>C (p.Gly267=) c.102G>C (p.Gly34=) | dbSNP |
16 | g.3810723C>T | CA493277651 | CREBBP | c.855G>A (p.Gly285=) n.97G>A c.801G>A (p.Gly267=) c.102G>A (p.Gly34=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3810724C>A | CA394566094 | CREBBP | c.854G>T (p.Gly285Val) n.96G>T c.800G>T (p.Gly267Val) c.101G>T (p.Gly34Val) | dbSNP |
16 | g.3810724C>G | CA394566095 | CREBBP | c.854G>C (p.Gly285Ala) n.96G>C c.800G>C (p.Gly267Ala) c.101G>C (p.Gly34Ala) | |
16 | g.3810724C>T | CA394566096 | CREBBP | c.854G>A (p.Gly285Glu) n.96G>A c.800G>A (p.Gly267Glu) c.101G>A (p.Gly34Glu) | |
16 | g.3810725C>A | CA394566097 | CREBBP | c.853G>T (p.Gly285Trp) n.95G>T c.799G>T (p.Gly267Trp) c.100G>T (p.Gly34Trp) | dbSNP |
16 | g.3810725C>G | CA394566098 | CREBBP | c.853G>C (p.Gly285Arg) n.95G>C c.799G>C (p.Gly267Arg) c.100G>C (p.Gly34Arg) | |
16 | g.3810725C>T | CA394566099 | CREBBP | c.853G>A (p.Gly285Arg) n.95G>A c.799G>A (p.Gly267Arg) c.100G>A (p.Gly34Arg) | |
16 | g.3810726T>A | CA493277653 | CREBBP | c.852A>T (p.Gly284=) n.94A>T c.798A>T (p.Gly266=) c.99A>T (p.Gly33=) | COSMIC |
16 | g.3810726T>C | CA493277654 | CREBBP | c.852A>G (p.Gly284=) n.94A>G c.798A>G (p.Gly266=) c.99A>G (p.Gly33=) | dbSNP gnomAD v4 |
16 | g.3810726T>G | CA493277655 | CREBBP | c.852A>C (p.Gly284=) n.94A>C c.798A>C (p.Gly266=) c.99A>C (p.Gly33=) | |
16 | g.3810726T= | CA2202971862 | CREBBP | c.852A= (p.Gly284=) n.94A= c.798A= (p.Gly266=) c.99A= (p.Gly33=) | |
16 | g.3810727C>A | CA394566100 | CREBBP | c.851G>T (p.Gly284Val) n.93G>T c.797G>T (p.Gly266Val) c.98G>T (p.Gly33Val) | dbSNP |
16 | g.3810727C= | CA2202971863 | CREBBP | c.851G= (p.Gly284=) n.93G= c.797G= (p.Gly266=) c.98G= (p.Gly33=) | |
16 | g.3810727C>G | CA7870573 | CREBBP | c.851G>C (p.Gly284Ala) n.93G>C c.797G>C (p.Gly266Ala) c.98G>C (p.Gly33Ala) | dbSNP ExAC gnomAD v2 |
16 | g.3810727C>T | CA394566101 | CREBBP | c.851G>A (p.Gly284Glu) n.93G>A c.797G>A (p.Gly266Glu) c.98G>A (p.Gly33Glu) | |
16 | g.3810728del | CA2580091132 | CREBBP | c.851del (p.Gly284GlufsTer10) n.93del c.797del (p.Gly266GlufsTer10) c.98del (p.Gly33GlufsTer10) | ClinVar |
16 | g.3810728C>A | CA394566104 | CREBBP | c.850G>T (p.Gly284Ter) n.92G>T c.796G>T (p.Gly266Ter) c.97G>T (p.Gly33Ter) | |
16 | g.3810728C= | CA2202971864 | CREBBP | c.850G= (p.Gly284=) n.92G= c.796G= (p.Gly266=) c.97G= (p.Gly33=) | |
16 | g.3810728C>G | CA394566102 | CREBBP | c.850G>C (p.Gly284Arg) n.92G>C c.796G>C (p.Gly266Arg) c.97G>C (p.Gly33Arg) | |
16 | g.3810728C>T | CA394566103 | CREBBP | c.850G>A (p.Gly284Arg) n.92G>A c.796G>A (p.Gly266Arg) c.97G>A (p.Gly33Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810729A>C | CA493277656 | CREBBP | c.849T>G (p.Ala283=) n.91T>G c.795T>G (p.Ala265=) c.96T>G (p.Ala32=) | |
16 | g.3810729A>G | CA493277657 | CREBBP | c.849T>C (p.Ala283=) n.91T>C c.795T>C (p.Ala265=) c.96T>C (p.Ala32=) | |
16 | g.3810729A>T | CA493277658 | CREBBP | c.849T>A (p.Ala283=) n.91T>A c.795T>A (p.Ala265=) c.96T>A (p.Ala32=) | |
16 | g.3810730G>A | CA394566105 | CREBBP | c.848C>T (p.Ala283Val) n.90C>T c.794C>T (p.Ala265Val) c.95C>T (p.Ala32Val) | dbSNP |
16 | g.3810730G>C | CA394566106 | CREBBP | c.848C>G (p.Ala283Gly) n.90C>G c.794C>G (p.Ala265Gly) c.95C>G (p.Ala32Gly) | |
16 | g.3810730G= | CA2202971865 | CREBBP | c.848C= (p.Ala283=) n.90C= c.794C= (p.Ala265=) c.95C= (p.Ala32=) | |
16 | g.3810730G>T | CA394566107 | CREBBP | c.848C>A (p.Ala283Asp) n.90C>A c.794C>A (p.Ala265Asp) c.95C>A (p.Ala32Asp) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3810731C>A | CA394566108 | CREBBP | c.847G>T (p.Ala283Ser) n.89G>T c.793G>T (p.Ala265Ser) c.94G>T (p.Ala32Ser) | |
16 | g.3810731C>G | CA394566109 | CREBBP | c.847G>C (p.Ala283Pro) n.89G>C c.793G>C (p.Ala265Pro) c.94G>C (p.Ala32Pro) | |
16 | g.3810731C>T | CA394566110 | CREBBP | c.847G>A (p.Ala283Thr) n.89G>A c.793G>A (p.Ala265Thr) c.94G>A (p.Ala32Thr) | |
16 | g.3810732T>A | CA394566111 | CREBBP | c.846A>T (p.Gln282His) n.88A>T c.792A>T (p.Gln264His) c.93A>T (p.Gln31His) | |
16 | g.3810732T>C | CA493277659 | CREBBP | c.846A>G (p.Gln282=) n.88A>G c.792A>G (p.Gln264=) c.93A>G (p.Gln31=) | |
16 | g.3810732T>G | CA394566112 | CREBBP | c.846A>C (p.Gln282His) n.88A>C c.792A>C (p.Gln264His) c.93A>C (p.Gln31His) | |
16 | g.3810733T>A | CA394566113 | CREBBP | c.845A>T (p.Gln282Leu) n.87A>T c.791A>T (p.Gln264Leu) c.92A>T (p.Gln31Leu) | |
16 | g.3810733T>C | CA394566114 | CREBBP | c.845A>G (p.Gln282Arg) n.87A>G c.791A>G (p.Gln264Arg) c.92A>G (p.Gln31Arg) | |
16 | g.3810733T>G | CA394566115 | CREBBP | c.845A>C (p.Gln282Pro) n.87A>C c.791A>C (p.Gln264Pro) c.92A>C (p.Gln31Pro) | |
16 | g.3810734G>A | CA394566117 | CREBBP | c.844C>T (p.Gln282Ter) n.86C>T c.790C>T (p.Gln264Ter) c.91C>T (p.Gln31Ter) | |
16 | g.3810734G>C | CA394566118 | CREBBP | c.844C>G (p.Gln282Glu) n.86C>G c.790C>G (p.Gln264Glu) c.91C>G (p.Gln31Glu) | gnomAD v4 |
16 | g.3810734G>T | CA394566116 | CREBBP | c.844C>A (p.Gln282Lys) n.86C>A c.790C>A (p.Gln264Lys) c.91C>A (p.Gln31Lys) | |
16 | g.3810735A>C | CA394566119 | CREBBP | c.843T>G (p.Ser281Arg) n.85T>G c.789T>G (p.Ser263Arg) c.90T>G (p.Ser30Arg) | |
16 | g.3810735A>G | CA493277660 | CREBBP | c.843T>C (p.Ser281=) n.85T>C c.789T>C (p.Ser263=) c.90T>C (p.Ser30=) | |
16 | g.3810735A>T | CA394566120 | CREBBP | c.843T>A (p.Ser281Arg) n.85T>A c.789T>A (p.Ser263Arg) c.90T>A (p.Ser30Arg) | |
16 | g.3810736C>A | CA394566121 | CREBBP | c.842G>T (p.Ser281Ile) n.84G>T c.788G>T (p.Ser263Ile) c.89G>T (p.Ser30Ile) | |
16 | g.3810736C>G | CA394566122 | CREBBP | c.842G>C (p.Ser281Thr) n.84G>C c.788G>C (p.Ser263Thr) c.89G>C (p.Ser30Thr) | |
16 | g.3810736C>T | CA394566123 | CREBBP | c.842G>A (p.Ser281Asn) n.84G>A c.788G>A (p.Ser263Asn) c.89G>A (p.Ser30Asn) | |
16 | g.3810737T>A | CA394566124 | CREBBP | c.841A>T (p.Ser281Cys) n.83A>T c.787A>T (p.Ser263Cys) c.88A>T (p.Ser30Cys) | |
16 | g.3810737T>C | CA394566125 | CREBBP | c.841A>G (p.Ser281Gly) n.83A>G c.787A>G (p.Ser263Gly) c.88A>G (p.Ser30Gly) | |
16 | g.3810737T>G | CA394566126 | CREBBP | c.841A>C (p.Ser281Arg) n.83A>C c.787A>C (p.Ser263Arg) c.88A>C (p.Ser30Arg) | |
16 | g.3810738A>C | CA394566127 | CREBBP | c.840T>G (p.Phe280Leu) n.82T>G c.786T>G (p.Phe262Leu) c.87T>G (p.Phe29Leu) | |
16 | g.3810738A>G | CA493277661 | CREBBP | c.840T>C (p.Phe280=) n.82T>C c.786T>C (p.Phe262=) c.87T>C (p.Phe29=) | gnomAD v4 |
16 | g.3810738A>T | CA394566128 | CREBBP | c.840T>A (p.Phe280Leu) n.82T>A c.786T>A (p.Phe262Leu) c.87T>A (p.Phe29Leu) | |
16 | g.3810740dup | CA2695222702 | CREBBP | c.840dup (p.Ser281Ter) n.82dup c.786dup (p.Ser263Ter) c.87dup (p.Ser30Ter) | |
16 | g.3810740_3810752del | CA2697549657 | CREBBP | c.828_840del (p.Phe276LeufsTer14) n.70_82del c.774_786del (p.Phe258LeufsTer14) c.75_87del (p.Phe25LeufsTer14) | ClinVar |
16 | g.3810739A>C | CA394566129 | CREBBP | c.839T>G (p.Phe280Cys) n.81T>G c.785T>G (p.Phe262Cys) c.86T>G (p.Phe29Cys) | gnomAD v4 |
16 | g.3810739A>G | CA394566130 | CREBBP | c.839T>C (p.Phe280Ser) n.81T>C c.785T>C (p.Phe262Ser) c.86T>C (p.Phe29Ser) | gnomAD v4 |
16 | g.3810739A>T | CA394566131 | CREBBP | c.839T>A (p.Phe280Tyr) n.81T>A c.785T>A (p.Phe262Tyr) c.86T>A (p.Phe29Tyr) | |
16 | g.3810740A>C | CA394566134 | CREBBP | c.838T>G (p.Phe280Val) n.80T>G c.784T>G (p.Phe262Val) c.85T>G (p.Phe29Val) | |
16 | g.3810740A>G | CA394566133 | CREBBP | c.838T>C (p.Phe280Leu) n.80T>C c.784T>C (p.Phe262Leu) c.85T>C (p.Phe29Leu) | |
16 | g.3810740A>T | CA394566132 | CREBBP | c.838T>A (p.Phe280Ile) n.80T>A c.784T>A (p.Phe262Ile) c.85T>A (p.Phe29Ile) | |
16 | g.3810741G>A | CA493277662 | CREBBP | c.837C>T (p.Pro279=) n.79C>T c.783C>T (p.Pro261=) c.84C>T (p.Pro28=) | |
16 | g.3810741G>C | CA493277663 | CREBBP | c.837C>G (p.Pro279=) n.79C>G c.783C>G (p.Pro261=) c.84C>G (p.Pro28=) | |
16 | g.3810741G>T | CA493277664 | CREBBP | c.837C>A (p.Pro279=) n.79C>A c.783C>A (p.Pro261=) c.84C>A (p.Pro28=) | |
16 | g.3810742G>A | CA277007877 | CREBBP | c.836C>T (p.Pro279Leu) n.78C>T c.782C>T (p.Pro261Leu) c.83C>T (p.Pro28Leu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3810742G>C | CA394566135 | CREBBP | c.836C>G (p.Pro279Arg) n.78C>G c.782C>G (p.Pro261Arg) c.83C>G (p.Pro28Arg) | |
16 | g.3810742G= | CA2202971866 | CREBBP | c.836C= (p.Pro279=) n.78C= c.782C= (p.Pro261=) c.83C= (p.Pro28=) | |
16 | g.3810742G>T | CA394566136 | CREBBP | c.836C>A (p.Pro279His) n.78C>A c.782C>A (p.Pro261His) c.83C>A (p.Pro28His) | dbSNP |
16 | g.3810743G>A | CA394566137 | CREBBP | c.835C>T (p.Pro279Ser) n.77C>T c.781C>T (p.Pro261Ser) c.82C>T (p.Pro28Ser) | |
16 | g.3810743G>C | CA394566138 | CREBBP | c.835C>G (p.Pro279Ala) n.77C>G c.781C>G (p.Pro261Ala) c.82C>G (p.Pro28Ala) | |
16 | g.3810743G>T | CA394566139 | CREBBP | c.835C>A (p.Pro279Thr) n.77C>A c.781C>A (p.Pro261Thr) c.82C>A (p.Pro28Thr) | |
16 | g.3810744C>A | CA394566140 | CREBBP | c.834G>T (p.Gln278His) n.76G>T c.780G>T (p.Gln260His) c.81G>T (p.Gln27His) | |
16 | g.3810744C>G | CA394566141 | CREBBP | c.834G>C (p.Gln278His) n.76G>C c.780G>C (p.Gln260His) c.81G>C (p.Gln27His) | |
16 | g.3810744C>T | CA493277665 | CREBBP | c.834G>A (p.Gln278=) n.76G>A c.780G>A (p.Gln260=) c.81G>A (p.Gln27=) | |
16 | g.3810745T>A | CA394566142 | CREBBP | c.833A>T (p.Gln278Leu) n.75A>T c.779A>T (p.Gln260Leu) c.80A>T (p.Gln27Leu) | |
16 | g.3810745T>C | CA394566143 | CREBBP | c.833A>G (p.Gln278Arg) n.75A>G c.779A>G (p.Gln260Arg) c.80A>G (p.Gln27Arg) | |
16 | g.3810745T>G | CA7870574 | CREBBP | c.833A>C (p.Gln278Pro) n.75A>C c.779A>C (p.Gln260Pro) c.80A>C (p.Gln27Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810745T= | CA2202971867 | CREBBP | c.833A= (p.Gln278=) n.75A= c.779A= (p.Gln260=) c.80A= (p.Gln27=) | |
16 | g.3810746G>A | CA394566144 | CREBBP | c.832C>T (p.Gln278Ter) n.74C>T c.778C>T (p.Gln260Ter) c.79C>T (p.Gln27Ter) | dbSNP |
16 | g.3810746G>C | CA394566145 | CREBBP | c.832C>G (p.Gln278Glu) n.74C>G c.778C>G (p.Gln260Glu) c.79C>G (p.Gln27Glu) | gnomAD v4 |
16 | g.3810746G>T | CA394566146 | CREBBP | c.832C>A (p.Gln278Lys) n.74C>A c.778C>A (p.Gln260Lys) c.79C>A (p.Gln27Lys) | |
16 | g.3810747T>A | CA493277666 | CREBBP | c.831A>T (p.Gly277=) n.73A>T c.777A>T (p.Gly259=) c.78A>T (p.Gly26=) | |
16 | g.3810747T>C | CA493277667 | CREBBP | c.831A>G (p.Gly277=) n.73A>G c.777A>G (p.Gly259=) c.78A>G (p.Gly26=) | dbSNP gnomAD v4 |
16 | g.3810747T>G | CA493277668 | CREBBP | c.831A>C (p.Gly277=) n.73A>C c.777A>C (p.Gly259=) c.78A>C (p.Gly26=) | |
16 | g.3810747T= | CA2202971868 | CREBBP | c.831A= (p.Gly277=) n.73A= c.777A= (p.Gly259=) c.78A= (p.Gly26=) | |
16 | g.3810748C>A | CA394566148 | CREBBP | c.830G>T (p.Gly277Val) n.72G>T c.776G>T (p.Gly259Val) c.77G>T (p.Gly26Val) | |
16 | g.3810748C>G | CA394566149 | CREBBP | c.830G>C (p.Gly277Ala) n.72G>C c.776G>C (p.Gly259Ala) c.77G>C (p.Gly26Ala) | |
16 | g.3810748C>T | CA394566147 | CREBBP | c.830G>A (p.Gly277Glu) n.72G>A c.776G>A (p.Gly259Glu) c.77G>A (p.Gly26Glu) | gnomAD v4 |
16 | g.3810749C>A | CA394566150 | CREBBP | c.829G>T (p.Gly277Ter) n.71G>T c.775G>T (p.Gly259Ter) c.76G>T (p.Gly26Ter) | dbSNP |
16 | g.3810749C= | CA2202971869 | CREBBP | c.829G= (p.Gly277=) n.71G= c.775G= (p.Gly259=) c.76G= (p.Gly26=) | |
16 | g.3810749C>G | CA394566151 | CREBBP | c.829G>C (p.Gly277Arg) n.71G>C c.775G>C (p.Gly259Arg) c.76G>C (p.Gly26Arg) | |
16 | g.3810749C>T | CA394566152 | CREBBP | c.829G>A (p.Gly277Arg) n.71G>A c.775G>A (p.Gly259Arg) c.76G>A (p.Gly26Arg) | |
16 | g.3810750A>C | CA394566153 | CREBBP | c.828T>G (p.Phe276Leu) n.70T>G c.774T>G (p.Phe258Leu) c.75T>G (p.Phe25Leu) | |
16 | g.3810750A>G | CA493277669 | CREBBP | c.828T>C (p.Phe276=) n.70T>C c.774T>C (p.Phe258=) c.75T>C (p.Phe25=) | |
16 | g.3810750A>T | CA394566154 | CREBBP | c.828T>A (p.Phe276Leu) n.70T>A c.774T>A (p.Phe258Leu) c.75T>A (p.Phe25Leu) | |
16 | g.3810751_3810752dup | CA276962 | CREBBP | c.827_828dup (p.Gly277LeufsTer18) n.69_70dup c.773_774dup (p.Gly259LeufsTer18) c.74_75dup (p.Gly26LeufsTer18) | ClinVar dbSNP |
16 | g.3810751A= | CA2202971870 | CREBBP | c.827T= (p.Phe276=) n.69T= c.773T= (p.Phe258=) c.74T= (p.Phe25=) | |
16 | g.3810751A>C | CA394566155 | CREBBP | c.827T>G (p.Phe276Cys) n.69T>G c.773T>G (p.Phe258Cys) c.74T>G (p.Phe25Cys) | |
16 | g.3810751A>G | CA394566157 | CREBBP | c.827T>C (p.Phe276Ser) n.69T>C c.773T>C (p.Phe258Ser) c.74T>C (p.Phe25Ser) | ClinVar dbSNP |
16 | g.3810751A>T | CA394566156 | CREBBP | c.827T>A (p.Phe276Tyr) n.69T>A c.773T>A (p.Phe258Tyr) c.74T>A (p.Phe25Tyr) | |
16 | g.3810752A>C | CA394566158 | CREBBP | c.826T>G (p.Phe276Val) n.68T>G c.772T>G (p.Phe258Val) c.73T>G (p.Phe25Val) | |
16 | g.3810752A>G | CA394566159 | CREBBP | c.826T>C (p.Phe276Leu) n.68T>C c.772T>C (p.Phe258Leu) c.73T>C (p.Phe25Leu) | |
16 | g.3810752A>T | CA394566160 | CREBBP | c.826T>A (p.Phe276Ile) n.68T>A c.772T>A (p.Phe258Ile) c.73T>A (p.Phe25Ile) | |
16 | g.3810753T>A | CA493277670 | CREBBP | c.825A>T (p.Pro275=) n.67A>T c.771A>T (p.Pro257=) c.72A>T (p.Pro24=) | |
16 | g.3810753T>C | CA493277671 | CREBBP | c.825A>G (p.Pro275=) n.67A>G c.771A>G (p.Pro257=) c.72A>G (p.Pro24=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3810753T>G | CA7870575 | CREBBP | c.825A>C (p.Pro275=) n.67A>C c.771A>C (p.Pro257=) c.72A>C (p.Pro24=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3810753T= | CA2202971871 | CREBBP | c.825A= (p.Pro275=) n.67A= c.771A= (p.Pro257=) c.72A= (p.Pro24=) | |
16 | g.3810754G>A | CA277007885 | CREBBP | c.824C>T (p.Pro275Leu) n.66C>T c.770C>T (p.Pro257Leu) c.71C>T (p.Pro24Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.3810754G>C | CA394566162 | CREBBP | c.824C>G (p.Pro275Arg) n.66C>G c.770C>G (p.Pro257Arg) c.71C>G (p.Pro24Arg) | |
16 | g.3810754G= | CA2202971872 | CREBBP | c.824C= (p.Pro275=) n.66C= c.770C= (p.Pro257=) c.71C= (p.Pro24=) | |
16 | g.3810754G>T | CA394566161 | CREBBP | c.824C>A (p.Pro275Gln) n.66C>A c.770C>A (p.Pro257Gln) c.71C>A (p.Pro24Gln) | COSMIC |
16 | g.3810755G>A | CA394566163 | CREBBP | c.823C>T (p.Pro275Ser) n.65C>T c.769C>T (p.Pro257Ser) c.70C>T (p.Pro24Ser) | dbSNP COSMIC |
16 | g.3810755G>C | CA7870576 | CREBBP | c.823C>G (p.Pro275Ala) n.65C>G c.769C>G (p.Pro257Ala) c.70C>G (p.Pro24Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3810755G= | CA2202971873 | CREBBP | c.823C= (p.Pro275=) n.65C= c.769C= (p.Pro257=) c.70C= (p.Pro24=) | |
16 | g.3810755G>T | CA394566164 | CREBBP | c.823C>A (p.Pro275Thr) n.65C>A c.769C>A (p.Pro257Thr) c.70C>A (p.Pro24Thr) | |
16 | g.3810756A>C | CA394566165 | CREBBP | c.822T>G (p.Ser274Arg) n.64T>G c.768T>G (p.Ser256Arg) c.69T>G (p.Ser23Arg) | |
16 | g.3810756A>G | CA493277672 | CREBBP | c.822T>C (p.Ser274=) n.64T>C c.768T>C (p.Ser256=) c.69T>C (p.Ser23=) | |
16 | g.3810756A>T | CA394566166 | CREBBP | c.822T>A (p.Ser274Arg) n.64T>A c.768T>A (p.Ser256Arg) c.69T>A (p.Ser23Arg) | dbSNP |
16 | g.3810757C>A | CA394566167 | CREBBP | c.821G>T (p.Ser274Ile) n.63G>T c.767G>T (p.Ser256Ile) c.68G>T (p.Ser23Ile) | |
16 | g.3810757C>G | CA394566168 | CREBBP | c.821G>C (p.Ser274Thr) n.63G>C c.767G>C (p.Ser256Thr) c.68G>C (p.Ser23Thr) | |
16 | g.3810757C>T | CA394566169 | CREBBP | c.821G>A (p.Ser274Asn) n.63G>A c.767G>A (p.Ser256Asn) c.68G>A (p.Ser23Asn) | |
16 | g.3810758T>A | CA394566170 | CREBBP | c.820A>T (p.Ser274Cys) n.62A>T c.766A>T (p.Ser256Cys) c.67A>T (p.Ser23Cys) | |
16 | g.3810758T>C | CA394566171 | CREBBP | c.820A>G (p.Ser274Gly) n.62A>G c.766A>G (p.Ser256Gly) c.67A>G (p.Ser23Gly) | |
16 | g.3810758T>G | CA394566172 | CREBBP | c.820A>C (p.Ser274Arg) n.62A>C c.766A>C (p.Ser256Arg) c.67A>C (p.Ser23Arg) | |
16 | g.3810759T>A | CA493277675 | CREBBP | c.819A>T (p.Thr273=) n.61A>T c.765A>T (p.Thr255=) c.66A>T (p.Thr22=) | |
16 | g.3810759T>C | CA493277674 | CREBBP | c.819A>G (p.Thr273=) n.61A>G c.765A>G (p.Thr255=) c.66A>G (p.Thr22=) | |
16 | g.3810759T>G | CA493277673 | CREBBP | c.819A>C (p.Thr273=) n.61A>C c.765A>C (p.Thr255=) c.66A>C (p.Thr22=) | |
16 | g.3810760G>A | CA394566174 | CREBBP | c.818C>T (p.Thr273Ile) n.60C>T c.764C>T (p.Thr255Ile) c.65C>T (p.Thr22Ile) | dbSNP |
16 | g.3810760G>C | CA394566175 | CREBBP | c.818C>G (p.Thr273Arg) n.60C>G c.764C>G (p.Thr255Arg) c.65C>G (p.Thr22Arg) | dbSNP gnomAD v4 |
16 | g.3810760G= | CA2202971874 | CREBBP | c.818C= (p.Thr273=) n.60C= c.764C= (p.Thr255=) c.65C= (p.Thr22=) | |
16 | g.3810760G>T | CA394566173 | CREBBP | c.818C>A (p.Thr273Lys) n.60C>A c.764C>A (p.Thr255Lys) c.65C>A (p.Thr22Lys) | |
16 | g.3810761T>A | CA394566176 | CREBBP | c.817A>T (p.Thr273Ser) n.59A>T c.763A>T (p.Thr255Ser) c.64A>T (p.Thr22Ser) | |
16 | g.3810761T>C | CA394566178 | CREBBP | c.817A>G (p.Thr273Ala) n.59A>G c.763A>G (p.Thr255Ala) c.64A>G (p.Thr22Ala) | |
16 | g.3810761T>G | CA394566177 | CREBBP | c.817A>C (p.Thr273Pro) n.59A>C c.763A>C (p.Thr255Pro) c.64A>C (p.Thr22Pro) | gnomAD v4 |
16 | g.3810762G>A | CA493277676 | CREBBP | c.816C>T (p.Asn272=) n.58C>T c.762C>T (p.Asn254=) c.63C>T (p.Asn21=) | dbSNP |
16 | g.3810762G>C | CA394566179 | CREBBP | c.816C>G (p.Asn272Lys) n.58C>G c.762C>G (p.Asn254Lys) c.63C>G (p.Asn21Lys) | |
16 | g.3810762G>T | CA394566180 | CREBBP | c.816C>A (p.Asn272Lys) n.58C>A c.762C>A (p.Asn254Lys) c.63C>A (p.Asn21Lys) | |
16 | g.3810763T>A | CA394566181 | CREBBP | c.815A>T (p.Asn272Ile) n.57A>T c.761A>T (p.Asn254Ile) c.62A>T (p.Asn21Ile) | |
16 | g.3810763T>C | CA394566182 | CREBBP | c.815A>G (p.Asn272Ser) n.57A>G c.761A>G (p.Asn254Ser) c.62A>G (p.Asn21Ser) | |
16 | g.3810763T>G | CA394566183 | CREBBP | c.815A>C (p.Asn272Thr) n.57A>C c.761A>C (p.Asn254Thr) c.62A>C (p.Asn21Thr) | |
16 | g.3810764T>A | CA394566184 | CREBBP | c.814A>T (p.Asn272Tyr) n.56A>T c.760A>T (p.Asn254Tyr) c.61A>T (p.Asn21Tyr) | gnomAD v4 |
16 | g.3810764T>C | CA394566185 | CREBBP | c.814A>G (p.Asn272Asp) n.56A>G c.760A>G (p.Asn254Asp) c.61A>G (p.Asn21Asp) | |
16 | g.3810764T>G | CA394566186 | CREBBP | c.814A>C (p.Asn272His) n.56A>C c.760A>C (p.Asn254His) c.61A>C (p.Asn21His) | |
16 | g.3810765C>A | CA493277677 | CREBBP | c.813G>T (p.Gly271=) n.55G>T c.759G>T (p.Gly253=) c.60G>T (p.Gly20=) | gnomAD v4 |
16 | g.3810765C= | CA2202971875 | CREBBP | c.813G= (p.Gly271=) n.55G= c.759G= (p.Gly253=) c.60G= (p.Gly20=) | |
16 | g.3810765C>G | CA7870577 | CREBBP | c.813G>C (p.Gly271=) n.55G>C c.759G>C (p.Gly253=) c.60G>C (p.Gly20=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810765C>T | CA493277678 | CREBBP | c.813G>A (p.Gly271=) n.55G>A c.759G>A (p.Gly253=) c.60G>A (p.Gly20=) | gnomAD v4 |
16 | g.3810766C>A | CA394566190 | CREBBP | c.812G>T (p.Gly271Val) n.54G>T c.758G>T (p.Gly253Val) c.59G>T (p.Gly20Val) | |
16 | g.3810766C= | CA2202971876 | CREBBP | c.812G= (p.Gly271=) n.54G= c.758G= (p.Gly253=) c.59G= (p.Gly20=) | |
16 | g.3810766C>G | CA394566192 | CREBBP | c.812G>C (p.Gly271Ala) n.54G>C c.758G>C (p.Gly253Ala) c.59G>C (p.Gly20Ala) | |
16 | g.3810766C>T | CA394566191 | CREBBP | c.812G>A (p.Gly271Glu) n.54G>A c.758G>A (p.Gly253Glu) c.59G>A (p.Gly20Glu) | dbSNP gnomAD v4 |
16 | g.3810767C>A | CA394566195 | CREBBP | c.811G>T (p.Gly271Trp) n.53G>T c.757G>T (p.Gly253Trp) c.58G>T (p.Gly20Trp) | |
16 | g.3810767C>G | CA394566196 | CREBBP | c.811G>C (p.Gly271Arg) n.53G>C c.757G>C (p.Gly253Arg) c.58G>C (p.Gly20Arg) | |
16 | g.3810767C>T | CA394566198 | CREBBP | c.811G>A (p.Gly271Arg) n.53G>A c.757G>A (p.Gly253Arg) c.58G>A (p.Gly20Arg) | |
16 | g.3810767_3810768del | CA2695222703 | CREBBP | c.810_811del (p.Gly271GlufsTer10) n.52_53del c.756_757del (p.Gly253GlufsTer10) c.57_58del (p.Gly20GlufsTer10) | |
16 | g.3810768A= | CA2202971877 | CREBBP | c.810T= (p.Thr270=) n.52T= c.756T= (p.Thr252=) c.57T= (p.Thr19=) | |
16 | g.3810768A>C | CA493277679 | CREBBP | c.810T>G (p.Thr270=) n.52T>G c.756T>G (p.Thr252=) c.57T>G (p.Thr19=) | |
16 | g.3810768A>G | CA7870578 | CREBBP | c.810T>C (p.Thr270=) n.52T>C c.756T>C (p.Thr252=) c.57T>C (p.Thr19=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810768A>T | CA493277680 | CREBBP | c.810T>A (p.Thr270=) n.52T>A c.756T>A (p.Thr252=) c.57T>A (p.Thr19=) | |
16 | g.3810769G>A | CA394566204 | CREBBP | c.809C>T (p.Thr270Ile) n.51C>T c.755C>T (p.Thr252Ile) c.56C>T (p.Thr19Ile) | dbSNP |
16 | g.3810769G>C | CA394566202 | CREBBP | c.809C>G (p.Thr270Ser) n.51C>G c.755C>G (p.Thr252Ser) c.56C>G (p.Thr19Ser) | |
16 | g.3810769G= | CA2202971878 | CREBBP | c.809C= (p.Thr270=) n.51C= c.755C= (p.Thr252=) c.56C= (p.Thr19=) | |
16 | g.3810769G>T | CA394566203 | CREBBP | c.809C>A (p.Thr270Asn) n.51C>A c.755C>A (p.Thr252Asn) c.56C>A (p.Thr19Asn) | |
16 | g.3810770T>A | CA394566207 | CREBBP | c.808A>T (p.Thr270Ser) n.50A>T c.754A>T (p.Thr252Ser) c.55A>T (p.Thr19Ser) | dbSNP |
16 | g.3810770T>C | CA394566208 | CREBBP | c.808A>G (p.Thr270Ala) n.50A>G c.754A>G (p.Thr252Ala) c.55A>G (p.Thr19Ala) | |
16 | g.3810770T>G | CA394566210 | CREBBP | c.808A>C (p.Thr270Pro) n.50A>C c.754A>C (p.Thr252Pro) c.55A>C (p.Thr19Pro) | |
16 | g.3810771T>A | CA7870579 | CREBBP | c.807A>T (p.Ile269=) n.49A>T c.753A>T (p.Ile251=) c.54A>T (p.Ile18=) | dbSNP ExAC gnomAD v2 |
16 | g.3810771T>C | CA394566211 | CREBBP | c.807A>G (p.Ile269Met) n.49A>G c.753A>G (p.Ile251Met) c.54A>G (p.Ile18Met) | |
16 | g.3810771T>G | CA493277681 | CREBBP | c.807A>C (p.Ile269=) n.49A>C c.753A>C (p.Ile251=) c.54A>C (p.Ile18=) | |
16 | g.3810771T= | CA2202971879 | CREBBP | c.807A= (p.Ile269=) n.49A= c.753A= (p.Ile251=) c.54A= (p.Ile18=) | |
16 | g.3810772_3810773del | CA2695222704 | CREBBP | c.806_807del (p.Ile269AsnfsTer12) n.48_49del c.752_753del (p.Ile251AsnfsTer12) c.53_54del (p.Ile18AsnfsTer12) | |
16 | g.3810772A>C | CA394566213 | CREBBP | c.806T>G (p.Ile269Arg) n.48T>G c.752T>G (p.Ile251Arg) c.53T>G (p.Ile18Arg) | |
16 | g.3810772A>G | CA394566215 | CREBBP | c.806T>C (p.Ile269Thr) n.48T>C c.752T>C (p.Ile251Thr) c.53T>C (p.Ile18Thr) | |
16 | g.3810772A>T | CA394566216 | CREBBP | c.806T>A (p.Ile269Lys) n.48T>A c.752T>A (p.Ile251Lys) c.53T>A (p.Ile18Lys) | |
16 | g.3810773T>A | CA394566218 | CREBBP | c.805A>T (p.Ile269Leu) n.47A>T c.751A>T (p.Ile251Leu) c.52A>T (p.Ile18Leu) | |
16 | g.3810773T>C | CA394566220 | CREBBP | c.805A>G (p.Ile269Val) n.47A>G c.751A>G (p.Ile251Val) c.52A>G (p.Ile18Val) | ClinVar dbSNP |
16 | g.3810773T>G | CA394566221 | CREBBP | c.805A>C (p.Ile269Leu) n.47A>C c.751A>C (p.Ile251Leu) c.52A>C (p.Ile18Leu) | |
16 | g.3810773T= | CA2202971880 | CREBBP | c.805A= (p.Ile269=) n.47A= c.751A= (p.Ile251=) c.52A= (p.Ile18=) | |
16 | g.3810774T>A | CA7870580 | CREBBP | c.804A>T (p.Gly268=) n.46A>T c.750A>T (p.Gly250=) c.51A>T (p.Gly17=) | dbSNP ExAC gnomAD v2 |
16 | g.3810774T>C | CA493277682 | CREBBP | c.804A>G (p.Gly268=) n.46A>G c.750A>G (p.Gly250=) c.51A>G (p.Gly17=) | |
16 | g.3810774T>G | CA493277683 | CREBBP | c.804A>C (p.Gly268=) n.46A>C c.750A>C (p.Gly250=) c.51A>C (p.Gly17=) | |
16 | g.3810774T= | CA2202971881 | CREBBP | c.804A= (p.Gly268=) n.46A= c.750A= (p.Gly250=) c.51A= (p.Gly17=) | |
16 | g.3810775C>A | CA394566225 | CREBBP | c.803G>T (p.Gly268Val) n.45G>T c.749G>T (p.Gly250Val) c.50G>T (p.Gly17Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3810775C= | CA2202971882 | CREBBP | c.803G= (p.Gly268=) n.45G= c.749G= (p.Gly250=) c.50G= (p.Gly17=) | |
16 | g.3810775C>G | CA394566228 | CREBBP | c.803G>C (p.Gly268Ala) n.45G>C c.749G>C (p.Gly250Ala) c.50G>C (p.Gly17Ala) | dbSNP gnomAD v2 |
16 | g.3810775C>T | CA394566226 | CREBBP | c.803G>A (p.Gly268Glu) n.45G>A c.749G>A (p.Gly250Glu) c.50G>A (p.Gly17Glu) | dbSNP |
16 | g.3810775_3810782del | CA620714721 | CREBBP | c.799-3_803del n.41-3_45del c.745-3_749del c.46-3_50del | gnomAD v2 |
16 | g.3810776C>A | CA394566230 | CREBBP | c.802G>T (p.Gly268Ter) n.44G>T c.748G>T (p.Gly250Ter) c.49G>T (p.Gly17Ter) | ClinVar dbSNP |
16 | g.3810776C= | CA2202971883 | CREBBP | c.802G= (p.Gly268=) n.44G= c.748G= (p.Gly250=) c.49G= (p.Gly17=) | |
16 | g.3810776C>G | CA394566232 | CREBBP | c.802G>C (p.Gly268Arg) n.44G>C c.748G>C (p.Gly250Arg) c.49G>C (p.Gly17Arg) | |
16 | g.3810776C>T | CA394566233 | CREBBP | c.802G>A (p.Gly268Arg) n.44G>A c.748G>A (p.Gly250Arg) c.49G>A (p.Gly17Arg) | dbSNP |
16 | g.3810776_3810782del | CA620714722 | CREBBP | c.799-3_802del n.41-3_44del c.745-3_748del c.46-3_49del | gnomAD v2 |
16 | g.3810777C>A | CA394566236 | CREBBP | c.801G>T (p.Met267Ile) n.43G>T c.747G>T (p.Met249Ile) c.48G>T (p.Met16Ile) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3810777C= | CA2202971884 | CREBBP | c.801G= (p.Met267=) n.43G= c.747G= (p.Met249=) c.48G= (p.Met16=) | |
16 | g.3810777C>G | CA394566237 | CREBBP | c.801G>C (p.Met267Ile) n.43G>C c.747G>C (p.Met249Ile) c.48G>C (p.Met16Ile) | |
16 | g.3810777C>T | CA394566239 | CREBBP | c.801G>A (p.Met267Ile) n.43G>A c.747G>A (p.Met249Ile) c.48G>A (p.Met16Ile) | dbSNP |
16 | g.3810778A>C | CA394566241 | CREBBP | c.800T>G (p.Met267Arg) n.42T>G c.746T>G (p.Met249Arg) c.47T>G (p.Met16Arg) | |
16 | g.3810778A>G | CA394566243 | CREBBP | c.800T>C (p.Met267Thr) n.42T>C c.746T>C (p.Met249Thr) c.47T>C (p.Met16Thr) | |
16 | g.3810778A>T | CA394566245 | CREBBP | c.800T>A (p.Met267Lys) n.42T>A c.746T>A (p.Met249Lys) c.47T>A (p.Met16Lys) | |
16 | g.3810778_3810782delinsATCTG | CA2202971885 | CREBBP | c.799-3_800delinsCAGAT n.41-3_42delinsCAGAT c.745-3_746delinsCAGAT c.46-3_47delinsCAGAT | |
16 | g.3810779T>A | CA394566247 | CREBBP | c.799A>T (p.Met267Leu) n.41A>T c.745A>T (p.Met249Leu) c.46A>T (p.Met16Leu) | ClinVar gnomAD v4 |
16 | g.3810779T>C | CA7870581 | CREBBP | c.799A>G (p.Met267Val) n.41A>G c.745A>G (p.Met249Val) c.46A>G (p.Met16Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3810779T>G | CA394566248 | CREBBP | c.799A>C (p.Met267Leu) n.41A>C c.745A>C (p.Met249Leu) c.46A>C (p.Met16Leu) | |
16 | g.3810779T= | CA2202971886 | CREBBP | c.799A= (p.Met267=) n.41A= c.745A= (p.Met249=) c.46A= (p.Met16=) | |
16 | g.3810779_3810782del | CA620714723 | CREBBP | c.799-3_799del n.41-3_41del c.745-3_745del c.46-3_46del | dbSNP gnomAD v2 gnomAD v4 |