Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3729554C>A | CA394556197 | CREBBP | c.5493G>T (p.Lys1831Asn) c.5379G>T (p.Lys1793Asn) c.5448G>T (p.Lys1816Asn) c.5076G>T (p.Lys1692Asn) c.5232G>T (p.Lys1744Asn) c.5439G>T (p.Lys1813Asn) c.4740G>T (p.Lys1580Asn) c.5487G>T (p.Lys1829Asn) | dbSNP |
16 | g.3729554C>G | CA394556198 | CREBBP | c.5493G>C (p.Lys1831Asn) c.5379G>C (p.Lys1793Asn) c.5448G>C (p.Lys1816Asn) c.5076G>C (p.Lys1692Asn) c.5232G>C (p.Lys1744Asn) c.5439G>C (p.Lys1813Asn) c.4740G>C (p.Lys1580Asn) c.5487G>C (p.Lys1829Asn) | dbSNP |
16 | g.3729554C>T | CA493394308 | CREBBP | c.5493G>A (p.Lys1831=) c.5379G>A (p.Lys1793=) c.5448G>A (p.Lys1816=) c.5076G>A (p.Lys1692=) c.5232G>A (p.Lys1744=) c.5439G>A (p.Lys1813=) c.4740G>A (p.Lys1580=) c.5487G>A (p.Lys1829=) | dbSNP gnomAD v4 |
16 | g.3729555T>A | CA394556199 | CREBBP | c.5492A>T (p.Lys1831Met) c.5378A>T (p.Lys1793Met) c.5447A>T (p.Lys1816Met) c.5075A>T (p.Lys1692Met) c.5231A>T (p.Lys1744Met) c.5438A>T (p.Lys1813Met) c.4739A>T (p.Lys1580Met) c.5486A>T (p.Lys1829Met) | dbSNP |
16 | g.3729555T>C | CA394556200 | CREBBP | c.5492A>G (p.Lys1831Arg) c.5378A>G (p.Lys1793Arg) c.5447A>G (p.Lys1816Arg) c.5075A>G (p.Lys1692Arg) c.5231A>G (p.Lys1744Arg) c.5438A>G (p.Lys1813Arg) c.4739A>G (p.Lys1580Arg) c.5486A>G (p.Lys1829Arg) | dbSNP |
16 | g.3729555T>G | CA394556201 | CREBBP | c.5492A>C (p.Lys1831Thr) c.5378A>C (p.Lys1793Thr) c.5447A>C (p.Lys1816Thr) c.5075A>C (p.Lys1692Thr) c.5231A>C (p.Lys1744Thr) c.5438A>C (p.Lys1813Thr) c.4739A>C (p.Lys1580Thr) c.5486A>C (p.Lys1829Thr) | |
16 | g.3729556T>A | CA394556204 | CREBBP | c.5491A>T (p.Lys1831Ter) c.5377A>T (p.Lys1793Ter) c.5446A>T (p.Lys1816Ter) c.5074A>T (p.Lys1692Ter) c.5230A>T (p.Lys1744Ter) c.5437A>T (p.Lys1813Ter) c.4738A>T (p.Lys1580Ter) c.5485A>T (p.Lys1829Ter) | |
16 | g.3729556T>C | CA394556203 | CREBBP | c.5491A>G (p.Lys1831Glu) c.5377A>G (p.Lys1793Glu) c.5446A>G (p.Lys1816Glu) c.5074A>G (p.Lys1692Glu) c.5230A>G (p.Lys1744Glu) c.5437A>G (p.Lys1813Glu) c.4738A>G (p.Lys1580Glu) c.5485A>G (p.Lys1829Glu) | |
16 | g.3729556T>G | CA394556202 | CREBBP | c.5491A>C (p.Lys1831Gln) c.5377A>C (p.Lys1793Gln) c.5446A>C (p.Lys1816Gln) c.5074A>C (p.Lys1692Gln) c.5230A>C (p.Lys1744Gln) c.5437A>C (p.Lys1813Gln) c.4738A>C (p.Lys1580Gln) c.5485A>C (p.Lys1829Gln) | |
16 | g.3729557G>A | CA493394309 | CREBBP | c.5490C>T (p.Ala1830=) c.5376C>T (p.Ala1792=) c.5445C>T (p.Ala1815=) c.5073C>T (p.Ala1691=) c.5229C>T (p.Ala1743=) c.5436C>T (p.Ala1812=) c.4737C>T (p.Ala1579=) c.5484C>T (p.Ala1828=) | dbSNP |
16 | g.3729557G>C | CA493394310 | CREBBP | c.5490C>G (p.Ala1830=) c.5376C>G (p.Ala1792=) c.5445C>G (p.Ala1815=) c.5073C>G (p.Ala1691=) c.5229C>G (p.Ala1743=) c.5436C>G (p.Ala1812=) c.4737C>G (p.Ala1579=) c.5484C>G (p.Ala1828=) | dbSNP |
16 | g.3729557G= | CA2202916447 | CREBBP | c.5490C= (p.Ala1830=) c.5376C= (p.Ala1792=) c.5445C= (p.Ala1815=) c.5073C= (p.Ala1691=) c.5229C= (p.Ala1743=) c.5436C= (p.Ala1812=) c.4737C= (p.Ala1579=) c.5484C= (p.Ala1828=) | |
16 | g.3729557G>T | CA493394311 | CREBBP | c.5490C>A (p.Ala1830=) c.5376C>A (p.Ala1792=) c.5445C>A (p.Ala1815=) c.5073C>A (p.Ala1691=) c.5229C>A (p.Ala1743=) c.5436C>A (p.Ala1812=) c.4737C>A (p.Ala1579=) c.5484C>A (p.Ala1828=) | dbSNP |
16 | g.3729558G>A | CA394556205 | CREBBP | c.5489C>T (p.Ala1830Val) c.5375C>T (p.Ala1792Val) c.5444C>T (p.Ala1815Val) c.5072C>T (p.Ala1691Val) c.5228C>T (p.Ala1743Val) c.5435C>T (p.Ala1812Val) c.4736C>T (p.Ala1579Val) c.5483C>T (p.Ala1828Val) | dbSNP |
16 | g.3729558G>C | CA7869275 | CREBBP | c.5489C>G (p.Ala1830Gly) c.5375C>G (p.Ala1792Gly) c.5444C>G (p.Ala1815Gly) c.5072C>G (p.Ala1691Gly) c.5228C>G (p.Ala1743Gly) c.5435C>G (p.Ala1812Gly) c.4736C>G (p.Ala1579Gly) c.5483C>G (p.Ala1828Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729558G= | CA2202916448 | CREBBP | c.5489C= (p.Ala1830=) c.5375C= (p.Ala1792=) c.5444C= (p.Ala1815=) c.5072C= (p.Ala1691=) c.5228C= (p.Ala1743=) c.5435C= (p.Ala1812=) c.4736C= (p.Ala1579=) c.5483C= (p.Ala1828=) | |
16 | g.3729558G>T | CA394556206 | CREBBP | c.5489C>A (p.Ala1830Asp) c.5375C>A (p.Ala1792Asp) c.5444C>A (p.Ala1815Asp) c.5072C>A (p.Ala1691Asp) c.5228C>A (p.Ala1743Asp) c.5435C>A (p.Ala1812Asp) c.4736C>A (p.Ala1579Asp) c.5483C>A (p.Ala1828Asp) | dbSNP |
16 | g.3729559C>A | CA394556207 | CREBBP | c.5488G>T (p.Ala1830Ser) c.5374G>T (p.Ala1792Ser) c.5443G>T (p.Ala1815Ser) c.5071G>T (p.Ala1691Ser) c.5227G>T (p.Ala1743Ser) c.5434G>T (p.Ala1812Ser) c.4735G>T (p.Ala1579Ser) c.5482G>T (p.Ala1828Ser) | dbSNP |
16 | g.3729559C>G | CA394556208 | CREBBP | c.5488G>C (p.Ala1830Pro) c.5374G>C (p.Ala1792Pro) c.5443G>C (p.Ala1815Pro) c.5071G>C (p.Ala1691Pro) c.5227G>C (p.Ala1743Pro) c.5434G>C (p.Ala1812Pro) c.4735G>C (p.Ala1579Pro) c.5482G>C (p.Ala1828Pro) | dbSNP |
16 | g.3729559C>T | CA394556209 | CREBBP | c.5488G>A (p.Ala1830Thr) c.5374G>A (p.Ala1792Thr) c.5443G>A (p.Ala1815Thr) c.5071G>A (p.Ala1691Thr) c.5227G>A (p.Ala1743Thr) c.5434G>A (p.Ala1812Thr) c.4735G>A (p.Ala1579Thr) c.5482G>A (p.Ala1828Thr) | ClinVar dbSNP |
16 | g.3729560G>A | CA7869276 | CREBBP | c.5487C>T (p.His1829=) c.5373C>T (p.His1791=) c.5442C>T (p.His1814=) c.5070C>T (p.His1690=) c.5226C>T (p.His1742=) c.5433C>T (p.His1811=) c.4734C>T (p.His1578=) c.5481C>T (p.His1827=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729560G>C | CA394556211 | CREBBP | c.5487C>G (p.His1829Gln) c.5373C>G (p.His1791Gln) c.5442C>G (p.His1814Gln) c.5070C>G (p.His1690Gln) c.5226C>G (p.His1742Gln) c.5433C>G (p.His1811Gln) c.4734C>G (p.His1578Gln) c.5481C>G (p.His1827Gln) | dbSNP |
16 | g.3729560G= | CA2202916449 | CREBBP | c.5487C= (p.His1829=) c.5373C= (p.His1791=) c.5442C= (p.His1814=) c.5070C= (p.His1690=) c.5226C= (p.His1742=) c.5433C= (p.His1811=) c.4734C= (p.His1578=) c.5481C= (p.His1827=) | |
16 | g.3729560G>T | CA394556210 | CREBBP | c.5487C>A (p.His1829Gln) c.5373C>A (p.His1791Gln) c.5442C>A (p.His1814Gln) c.5070C>A (p.His1690Gln) c.5226C>A (p.His1742Gln) c.5433C>A (p.His1811Gln) c.4734C>A (p.His1578Gln) c.5481C>A (p.His1827Gln) | dbSNP |
16 | g.3729561T>A | CA394556212 | CREBBP | c.5486A>T (p.His1829Leu) c.5372A>T (p.His1791Leu) c.5441A>T (p.His1814Leu) c.5069A>T (p.His1690Leu) c.5225A>T (p.His1742Leu) c.5432A>T (p.His1811Leu) c.4733A>T (p.His1578Leu) c.5480A>T (p.His1827Leu) | |
16 | g.3729561T>C | CA394556213 | CREBBP | c.5486A>G (p.His1829Arg) c.5372A>G (p.His1791Arg) c.5441A>G (p.His1814Arg) c.5069A>G (p.His1690Arg) c.5225A>G (p.His1742Arg) c.5432A>G (p.His1811Arg) c.4733A>G (p.His1578Arg) c.5480A>G (p.His1827Arg) | |
16 | g.3729561T>G | CA394556214 | CREBBP | c.5486A>C (p.His1829Pro) c.5372A>C (p.His1791Pro) c.5441A>C (p.His1814Pro) c.5069A>C (p.His1690Pro) c.5225A>C (p.His1742Pro) c.5432A>C (p.His1811Pro) c.4733A>C (p.His1578Pro) c.5480A>C (p.His1827Pro) | |
16 | g.3729562G>A | CA394556215 | CREBBP | c.5485C>T (p.His1829Tyr) c.5371C>T (p.His1791Tyr) c.5440C>T (p.His1814Tyr) c.5068C>T (p.His1690Tyr) c.5224C>T (p.His1742Tyr) c.5431C>T (p.His1811Tyr) c.4732C>T (p.His1578Tyr) c.5479C>T (p.His1827Tyr) | dbSNP |
16 | g.3729562G>C | CA394556216 | CREBBP | c.5485C>G (p.His1829Asp) c.5371C>G (p.His1791Asp) c.5440C>G (p.His1814Asp) c.5068C>G (p.His1690Asp) c.5224C>G (p.His1742Asp) c.5431C>G (p.His1811Asp) c.4732C>G (p.His1578Asp) c.5479C>G (p.His1827Asp) | |
16 | g.3729562G>T | CA394556217 | CREBBP | c.5485C>A (p.His1829Asn) c.5371C>A (p.His1791Asn) c.5440C>A (p.His1814Asn) c.5068C>A (p.His1690Asn) c.5224C>A (p.His1742Asn) c.5431C>A (p.His1811Asn) c.4732C>A (p.His1578Asn) c.5479C>A (p.His1827Asn) | dbSNP |
16 | g.3729562_3729565delinsGGTA | CA2202916450 | CREBBP | c.5482_5485delinsTACC (p.Tyr1828=) c.5368_5371delinsTACC (p.Tyr1790=) c.5437_5440delinsTACC (p.Tyr1813=) c.5065_5068delinsTACC (p.Tyr1689=) c.5221_5224delinsTACC (p.Tyr1741=) c.5428_5431delinsTACC (p.Tyr1810=) c.4729_4732delinsTACC (p.Tyr1577=) c.5476_5479delinsTACC (p.Tyr1826=) | |
16 | g.3729563G>A | CA493394320 | CREBBP | c.5484C>T (p.Tyr1828=) c.5370C>T (p.Tyr1790=) c.5439C>T (p.Tyr1813=) c.5067C>T (p.Tyr1689=) c.5223C>T (p.Tyr1741=) c.5430C>T (p.Tyr1810=) c.4731C>T (p.Tyr1577=) c.5478C>T (p.Tyr1826=) | |
16 | g.3729563G>C | CA394556218 | CREBBP | c.5484C>G (p.Tyr1828Ter) c.5370C>G (p.Tyr1790Ter) c.5439C>G (p.Tyr1813Ter) c.5067C>G (p.Tyr1689Ter) c.5223C>G (p.Tyr1741Ter) c.5430C>G (p.Tyr1810Ter) c.4731C>G (p.Tyr1577Ter) c.5478C>G (p.Tyr1826Ter) | |
16 | g.3729563G>T | CA394556219 | CREBBP | c.5484C>A (p.Tyr1828Ter) c.5370C>A (p.Tyr1790Ter) c.5439C>A (p.Tyr1813Ter) c.5067C>A (p.Tyr1689Ter) c.5223C>A (p.Tyr1741Ter) c.5430C>A (p.Tyr1810Ter) c.4731C>A (p.Tyr1577Ter) c.5478C>A (p.Tyr1826Ter) | |
16 | g.3729564_3729566del | CA915949069 | CREBBP | c.5482_5484del (p.Tyr1828del) c.5368_5370del (p.Tyr1790del) c.5437_5439del (p.Tyr1813del) c.5065_5067del (p.Tyr1689del) c.5221_5223del (p.Tyr1741del) c.5428_5430del (p.Tyr1810del) c.4729_4731del (p.Tyr1577del) c.5476_5478del (p.Tyr1826del) | ClinVar dbSNP |
16 | g.3729564T>A | CA394556220 | CREBBP | c.5483A>T (p.Tyr1828Phe) c.5369A>T (p.Tyr1790Phe) c.5438A>T (p.Tyr1813Phe) c.5066A>T (p.Tyr1689Phe) c.5222A>T (p.Tyr1741Phe) c.5429A>T (p.Tyr1810Phe) c.4730A>T (p.Tyr1577Phe) c.5477A>T (p.Tyr1826Phe) | |
16 | g.3729564T>C | CA394556221 | CREBBP | c.5483A>G (p.Tyr1828Cys) c.5369A>G (p.Tyr1790Cys) c.5438A>G (p.Tyr1813Cys) c.5066A>G (p.Tyr1689Cys) c.5222A>G (p.Tyr1741Cys) c.5429A>G (p.Tyr1810Cys) c.4730A>G (p.Tyr1577Cys) c.5477A>G (p.Tyr1826Cys) | |
16 | g.3729564T>G | CA394556222 | CREBBP | c.5483A>C (p.Tyr1828Ser) c.5369A>C (p.Tyr1790Ser) c.5438A>C (p.Tyr1813Ser) c.5066A>C (p.Tyr1689Ser) c.5222A>C (p.Tyr1741Ser) c.5429A>C (p.Tyr1810Ser) c.4730A>C (p.Tyr1577Ser) c.5477A>C (p.Tyr1826Ser) | |
16 | g.3729565A>C | CA394556225 | CREBBP | c.5482T>G (p.Tyr1828Asp) c.5368T>G (p.Tyr1790Asp) c.5437T>G (p.Tyr1813Asp) c.5065T>G (p.Tyr1689Asp) c.5221T>G (p.Tyr1741Asp) c.5428T>G (p.Tyr1810Asp) c.4729T>G (p.Tyr1577Asp) c.5476T>G (p.Tyr1826Asp) | |
16 | g.3729565A>G | CA394556224 | CREBBP | c.5482T>C (p.Tyr1828His) c.5368T>C (p.Tyr1790His) c.5437T>C (p.Tyr1813His) c.5065T>C (p.Tyr1689His) c.5221T>C (p.Tyr1741His) c.5428T>C (p.Tyr1810His) c.4729T>C (p.Tyr1577His) c.5476T>C (p.Tyr1826His) | dbSNP |
16 | g.3729565A>T | CA394556223 | CREBBP | c.5482T>A (p.Tyr1828Asn) c.5368T>A (p.Tyr1790Asn) c.5437T>A (p.Tyr1813Asn) c.5065T>A (p.Tyr1689Asn) c.5221T>A (p.Tyr1741Asn) c.5428T>A (p.Tyr1810Asn) c.4729T>A (p.Tyr1577Asn) c.5476T>A (p.Tyr1826Asn) | dbSNP |
16 | g.3729566G>A | CA493394322 | CREBBP | c.5481C>T (p.Cys1827=) c.5367C>T (p.Cys1789=) c.5436C>T (p.Cys1812=) c.5064C>T (p.Cys1688=) c.5220C>T (p.Cys1740=) c.5427C>T (p.Cys1809=) c.4728C>T (p.Cys1576=) c.5475C>T (p.Cys1825=) | dbSNP gnomAD v4 |
16 | g.3729566G>C | CA394556226 | CREBBP | c.5481C>G (p.Cys1827Trp) c.5367C>G (p.Cys1789Trp) c.5436C>G (p.Cys1812Trp) c.5064C>G (p.Cys1688Trp) c.5220C>G (p.Cys1740Trp) c.5427C>G (p.Cys1809Trp) c.4728C>G (p.Cys1576Trp) c.5475C>G (p.Cys1825Trp) | dbSNP |
16 | g.3729566G>T | CA394556227 | CREBBP | c.5481C>A (p.Cys1827Ter) c.5367C>A (p.Cys1789Ter) c.5436C>A (p.Cys1812Ter) c.5064C>A (p.Cys1688Ter) c.5220C>A (p.Cys1740Ter) c.5427C>A (p.Cys1809Ter) c.4728C>A (p.Cys1576Ter) c.5475C>A (p.Cys1825Ter) | dbSNP |
16 | g.3729567C>A | CA394556228 | CREBBP | c.5480G>T (p.Cys1827Phe) c.5366G>T (p.Cys1789Phe) c.5435G>T (p.Cys1812Phe) c.5063G>T (p.Cys1688Phe) c.5219G>T (p.Cys1740Phe) c.5426G>T (p.Cys1809Phe) c.4727G>T (p.Cys1576Phe) c.5474G>T (p.Cys1825Phe) | dbSNP |
16 | g.3729567C>G | CA394556229 | CREBBP | c.5480G>C (p.Cys1827Ser) c.5366G>C (p.Cys1789Ser) c.5435G>C (p.Cys1812Ser) c.5063G>C (p.Cys1688Ser) c.5219G>C (p.Cys1740Ser) c.5426G>C (p.Cys1809Ser) c.4727G>C (p.Cys1576Ser) c.5474G>C (p.Cys1825Ser) | dbSNP |
16 | g.3729567C>T | CA394556230 | CREBBP | c.5480G>A (p.Cys1827Tyr) c.5366G>A (p.Cys1789Tyr) c.5435G>A (p.Cys1812Tyr) c.5063G>A (p.Cys1688Tyr) c.5219G>A (p.Cys1740Tyr) c.5426G>A (p.Cys1809Tyr) c.4727G>A (p.Cys1576Tyr) c.5474G>A (p.Cys1825Tyr) | dbSNP gnomAD v4 |
16 | g.3729568A= | CA2202916451 | CREBBP | c.5479T= (p.Cys1827=) c.5365T= (p.Cys1789=) c.5434T= (p.Cys1812=) c.5062T= (p.Cys1688=) c.5218T= (p.Cys1740=) c.5425T= (p.Cys1809=) c.4726T= (p.Cys1576=) c.5473T= (p.Cys1825=) | |
16 | g.3729568A>C | CA394556231 | CREBBP | c.5479T>G (p.Cys1827Gly) c.5365T>G (p.Cys1789Gly) c.5434T>G (p.Cys1812Gly) c.5062T>G (p.Cys1688Gly) c.5218T>G (p.Cys1740Gly) c.5425T>G (p.Cys1809Gly) c.4726T>G (p.Cys1576Gly) c.5473T>G (p.Cys1825Gly) | |
16 | g.3729568A>G | CA394556232 | CREBBP | c.5479T>C (p.Cys1827Arg) c.5365T>C (p.Cys1789Arg) c.5434T>C (p.Cys1812Arg) c.5062T>C (p.Cys1688Arg) c.5218T>C (p.Cys1740Arg) c.5425T>C (p.Cys1809Arg) c.4726T>C (p.Cys1576Arg) c.5473T>C (p.Cys1825Arg) | dbSNP |
16 | g.3729568A>T | CA394556233 | CREBBP | c.5479T>A (p.Cys1827Ser) c.5365T>A (p.Cys1789Ser) c.5434T>A (p.Cys1812Ser) c.5062T>A (p.Cys1688Ser) c.5218T>A (p.Cys1740Ser) c.5425T>A (p.Cys1809Ser) c.4726T>A (p.Cys1576Ser) c.5473T>A (p.Cys1825Ser) | dbSNP |
16 | g.3729569G>A | CA493394327 | CREBBP | c.5478C>T (p.Cys1826=) c.5364C>T (p.Cys1788=) c.5433C>T (p.Cys1811=) c.5061C>T (p.Cys1687=) c.5217C>T (p.Cys1739=) c.5424C>T (p.Cys1808=) c.4725C>T (p.Cys1575=) c.5472C>T (p.Cys1824=) | dbSNP |
16 | g.3729569G>C | CA394556234 | CREBBP | c.5478C>G (p.Cys1826Trp) c.5364C>G (p.Cys1788Trp) c.5433C>G (p.Cys1811Trp) c.5061C>G (p.Cys1687Trp) c.5217C>G (p.Cys1739Trp) c.5424C>G (p.Cys1808Trp) c.4725C>G (p.Cys1575Trp) c.5472C>G (p.Cys1824Trp) | dbSNP |
16 | g.3729569G>T | CA394556235 | CREBBP | c.5478C>A (p.Cys1826Ter) c.5364C>A (p.Cys1788Ter) c.5433C>A (p.Cys1811Ter) c.5061C>A (p.Cys1687Ter) c.5217C>A (p.Cys1739Ter) c.5424C>A (p.Cys1808Ter) c.4725C>A (p.Cys1575Ter) c.5472C>A (p.Cys1824Ter) | |
16 | g.3729570C>A | CA394556236 | CREBBP | c.5477G>T (p.Cys1826Phe) c.5363G>T (p.Cys1788Phe) c.5432G>T (p.Cys1811Phe) c.5060G>T (p.Cys1687Phe) c.5216G>T (p.Cys1739Phe) c.5423G>T (p.Cys1808Phe) c.4724G>T (p.Cys1575Phe) c.5471G>T (p.Cys1824Phe) | |
16 | g.3729570C= | CA2202916452 | CREBBP | c.5477G= (p.Cys1826=) c.5363G= (p.Cys1788=) c.5432G= (p.Cys1811=) c.5060G= (p.Cys1687=) c.5216G= (p.Cys1739=) c.5423G= (p.Cys1808=) c.4724G= (p.Cys1575=) c.5471G= (p.Cys1824=) | |
16 | g.3729570C>G | CA394556237 | CREBBP | c.5477G>C (p.Cys1826Ser) c.5363G>C (p.Cys1788Ser) c.5432G>C (p.Cys1811Ser) c.5060G>C (p.Cys1687Ser) c.5216G>C (p.Cys1739Ser) c.5423G>C (p.Cys1808Ser) c.4724G>C (p.Cys1575Ser) c.5471G>C (p.Cys1824Ser) | dbSNP |
16 | g.3729570C>T | CA394556238 | CREBBP | c.5477G>A (p.Cys1826Tyr) c.5363G>A (p.Cys1788Tyr) c.5432G>A (p.Cys1811Tyr) c.5060G>A (p.Cys1687Tyr) c.5216G>A (p.Cys1739Tyr) c.5423G>A (p.Cys1808Tyr) c.4724G>A (p.Cys1575Tyr) c.5471G>A (p.Cys1824Tyr) | |
16 | g.3729571A= | CA2202916453 | CREBBP | c.5476T= (p.Cys1826=) c.5362T= (p.Cys1788=) c.5431T= (p.Cys1811=) c.5059T= (p.Cys1687=) c.5215T= (p.Cys1739=) c.5422T= (p.Cys1808=) c.4723T= (p.Cys1575=) c.5470T= (p.Cys1824=) | |
16 | g.3729571A>C | CA394556239 | CREBBP | c.5476T>G (p.Cys1826Gly) c.5362T>G (p.Cys1788Gly) c.5431T>G (p.Cys1811Gly) c.5059T>G (p.Cys1687Gly) c.5215T>G (p.Cys1739Gly) c.5422T>G (p.Cys1808Gly) c.4723T>G (p.Cys1575Gly) c.5470T>G (p.Cys1824Gly) | dbSNP |
16 | g.3729571A>G | CA394556240 | CREBBP | c.5476T>C (p.Cys1826Arg) c.5362T>C (p.Cys1788Arg) c.5431T>C (p.Cys1811Arg) c.5059T>C (p.Cys1687Arg) c.5215T>C (p.Cys1739Arg) c.5422T>C (p.Cys1808Arg) c.4723T>C (p.Cys1575Arg) c.5470T>C (p.Cys1824Arg) | |
16 | g.3729571A>T | CA394556241 | CREBBP | c.5476T>A (p.Cys1826Ser) c.5362T>A (p.Cys1788Ser) c.5431T>A (p.Cys1811Ser) c.5059T>A (p.Cys1687Ser) c.5215T>A (p.Cys1739Ser) c.5422T>A (p.Cys1808Ser) c.4723T>A (p.Cys1575Ser) c.5470T>A (p.Cys1824Ser) | |
16 | g.3729572G>A | CA493394330 | CREBBP | c.5475C>T (p.Leu1825=) c.5361C>T (p.Leu1787=) c.5430C>T (p.Leu1810=) c.5058C>T (p.Leu1686=) c.5214C>T (p.Leu1738=) c.5421C>T (p.Leu1807=) c.4722C>T (p.Leu1574=) c.5469C>T (p.Leu1823=) | dbSNP gnomAD v4 |
16 | g.3729572G>C | CA493394331 | CREBBP | c.5475C>G (p.Leu1825=) c.5361C>G (p.Leu1787=) c.5430C>G (p.Leu1810=) c.5058C>G (p.Leu1686=) c.5214C>G (p.Leu1738=) c.5421C>G (p.Leu1807=) c.4722C>G (p.Leu1574=) c.5469C>G (p.Leu1823=) | dbSNP gnomAD v4 COSMIC |
16 | g.3729572G>T | CA493394332 | CREBBP | c.5475C>A (p.Leu1825=) c.5361C>A (p.Leu1787=) c.5430C>A (p.Leu1810=) c.5058C>A (p.Leu1686=) c.5214C>A (p.Leu1738=) c.5421C>A (p.Leu1807=) c.4722C>A (p.Leu1574=) c.5469C>A (p.Leu1823=) | |
16 | g.3729573A= | CA2202916454 | CREBBP | c.5474T= (p.Leu1825=) c.5360T= (p.Leu1787=) c.5429T= (p.Leu1810=) c.5057T= (p.Leu1686=) c.5213T= (p.Leu1738=) c.5420T= (p.Leu1807=) c.4721T= (p.Leu1574=) c.5468T= (p.Leu1823=) | |
16 | g.3729573A>C | CA394556242 | CREBBP | c.5474T>G (p.Leu1825Arg) c.5360T>G (p.Leu1787Arg) c.5429T>G (p.Leu1810Arg) c.5057T>G (p.Leu1686Arg) c.5213T>G (p.Leu1738Arg) c.5420T>G (p.Leu1807Arg) c.4721T>G (p.Leu1574Arg) c.5468T>G (p.Leu1823Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729573A>G | CA394556244 | CREBBP | c.5474T>C (p.Leu1825Pro) c.5360T>C (p.Leu1787Pro) c.5429T>C (p.Leu1810Pro) c.5057T>C (p.Leu1686Pro) c.5213T>C (p.Leu1738Pro) c.5420T>C (p.Leu1807Pro) c.4721T>C (p.Leu1574Pro) c.5468T>C (p.Leu1823Pro) | dbSNP |
16 | g.3729573A>T | CA394556243 | CREBBP | c.5474T>A (p.Leu1825His) c.5360T>A (p.Leu1787His) c.5429T>A (p.Leu1810His) c.5057T>A (p.Leu1686His) c.5213T>A (p.Leu1738His) c.5420T>A (p.Leu1807His) c.4721T>A (p.Leu1574His) c.5468T>A (p.Leu1823His) | dbSNP |
16 | g.3729574G>A | CA394556245 | CREBBP | c.5473C>T (p.Leu1825Phe) c.5359C>T (p.Leu1787Phe) c.5428C>T (p.Leu1810Phe) c.5056C>T (p.Leu1686Phe) c.5212C>T (p.Leu1738Phe) c.5419C>T (p.Leu1807Phe) c.4720C>T (p.Leu1574Phe) c.5467C>T (p.Leu1823Phe) | dbSNP gnomAD v4 |
16 | g.3729574G>C | CA394556246 | CREBBP | c.5473C>G (p.Leu1825Val) c.5359C>G (p.Leu1787Val) c.5428C>G (p.Leu1810Val) c.5056C>G (p.Leu1686Val) c.5212C>G (p.Leu1738Val) c.5419C>G (p.Leu1807Val) c.4720C>G (p.Leu1574Val) c.5467C>G (p.Leu1823Val) | dbSNP |
16 | g.3729574G>T | CA394556247 | CREBBP | c.5473C>A (p.Leu1825Ile) c.5359C>A (p.Leu1787Ile) c.5428C>A (p.Leu1810Ile) c.5056C>A (p.Leu1686Ile) c.5212C>A (p.Leu1738Ile) c.5419C>A (p.Leu1807Ile) c.4720C>A (p.Leu1574Ile) c.5467C>A (p.Leu1823Ile) | dbSNP |
16 | g.3729575G>A | CA276972226 | CREBBP | c.5472C>T (p.Ala1824=) c.5358C>T (p.Ala1786=) c.5427C>T (p.Ala1809=) c.5055C>T (p.Ala1685=) c.5211C>T (p.Ala1737=) c.5418C>T (p.Ala1806=) c.4719C>T (p.Ala1573=) c.5466C>T (p.Ala1822=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729575G>C | CA493394339 | CREBBP | c.5472C>G (p.Ala1824=) c.5358C>G (p.Ala1786=) c.5427C>G (p.Ala1809=) c.5055C>G (p.Ala1685=) c.5211C>G (p.Ala1737=) c.5418C>G (p.Ala1806=) c.4719C>G (p.Ala1573=) c.5466C>G (p.Ala1822=) | dbSNP gnomAD v4 |
16 | g.3729575G= | CA2202916455 | CREBBP | c.5472C= (p.Ala1824=) c.5358C= (p.Ala1786=) c.5427C= (p.Ala1809=) c.5055C= (p.Ala1685=) c.5211C= (p.Ala1737=) c.5418C= (p.Ala1806=) c.4719C= (p.Ala1573=) c.5466C= (p.Ala1822=) | |
16 | g.3729575G>T | CA493394340 | CREBBP | c.5472C>A (p.Ala1824=) c.5358C>A (p.Ala1786=) c.5427C>A (p.Ala1809=) c.5055C>A (p.Ala1685=) c.5211C>A (p.Ala1737=) c.5418C>A (p.Ala1806=) c.4719C>A (p.Ala1573=) c.5466C>A (p.Ala1822=) | |
16 | g.3729576G>A | CA394556248 | CREBBP | c.5471C>T (p.Ala1824Val) c.5357C>T (p.Ala1786Val) c.5426C>T (p.Ala1809Val) c.5054C>T (p.Ala1685Val) c.5210C>T (p.Ala1737Val) c.5417C>T (p.Ala1806Val) c.4718C>T (p.Ala1573Val) c.5465C>T (p.Ala1822Val) | dbSNP |
16 | g.3729576G>C | CA394556249 | CREBBP | c.5471C>G (p.Ala1824Gly) c.5357C>G (p.Ala1786Gly) c.5426C>G (p.Ala1809Gly) c.5054C>G (p.Ala1685Gly) c.5210C>G (p.Ala1737Gly) c.5417C>G (p.Ala1806Gly) c.4718C>G (p.Ala1573Gly) c.5465C>G (p.Ala1822Gly) | dbSNP |
16 | g.3729576G>T | CA394556250 | CREBBP | c.5471C>A (p.Ala1824Asp) c.5357C>A (p.Ala1786Asp) c.5426C>A (p.Ala1809Asp) c.5054C>A (p.Ala1685Asp) c.5210C>A (p.Ala1737Asp) c.5417C>A (p.Ala1806Asp) c.4718C>A (p.Ala1573Asp) c.5465C>A (p.Ala1822Asp) | |
16 | g.3729577C>A | CA394556251 | CREBBP | c.5470G>T (p.Ala1824Ser) c.5356G>T (p.Ala1786Ser) c.5425G>T (p.Ala1809Ser) c.5053G>T (p.Ala1685Ser) c.5209G>T (p.Ala1737Ser) c.5416G>T (p.Ala1806Ser) c.4717G>T (p.Ala1573Ser) c.5464G>T (p.Ala1822Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729577C= | CA2202916456 | CREBBP | c.5470G= (p.Ala1824=) c.5356G= (p.Ala1786=) c.5425G= (p.Ala1809=) c.5053G= (p.Ala1685=) c.5209G= (p.Ala1737=) c.5416G= (p.Ala1806=) c.4717G= (p.Ala1573=) c.5464G= (p.Ala1822=) | |
16 | g.3729577C>G | CA394556252 | CREBBP | c.5470G>C (p.Ala1824Pro) c.5356G>C (p.Ala1786Pro) c.5425G>C (p.Ala1809Pro) c.5053G>C (p.Ala1685Pro) c.5209G>C (p.Ala1737Pro) c.5416G>C (p.Ala1806Pro) c.4717G>C (p.Ala1573Pro) c.5464G>C (p.Ala1822Pro) | dbSNP |
16 | g.3729577C>T | CA394556253 | CREBBP | c.5470G>A (p.Ala1824Thr) c.5356G>A (p.Ala1786Thr) c.5425G>A (p.Ala1809Thr) c.5053G>A (p.Ala1685Thr) c.5209G>A (p.Ala1737Thr) c.5416G>A (p.Ala1806Thr) c.4717G>A (p.Ala1573Thr) c.5464G>A (p.Ala1822Thr) | dbSNP gnomAD v4 COSMIC |
16 | g.3729578G>A | CA7869277 | CREBBP | c.5469C>T (p.Ile1823=) c.5355C>T (p.Ile1785=) c.5424C>T (p.Ile1808=) c.5052C>T (p.Ile1684=) c.5208C>T (p.Ile1736=) c.5415C>T (p.Ile1805=) c.4716C>T (p.Ile1572=) c.5463C>T (p.Ile1821=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729578G>C | CA394556254 | CREBBP | c.5469C>G (p.Ile1823Met) c.5355C>G (p.Ile1785Met) c.5424C>G (p.Ile1808Met) c.5052C>G (p.Ile1684Met) c.5208C>G (p.Ile1736Met) c.5415C>G (p.Ile1805Met) c.4716C>G (p.Ile1572Met) c.5463C>G (p.Ile1821Met) | dbSNP |
16 | g.3729578G= | CA2202916457 | CREBBP | c.5469C= (p.Ile1823=) c.5355C= (p.Ile1785=) c.5424C= (p.Ile1808=) c.5052C= (p.Ile1684=) c.5208C= (p.Ile1736=) c.5415C= (p.Ile1805=) c.4716C= (p.Ile1572=) c.5463C= (p.Ile1821=) | |
16 | g.3729578G>T | CA493394344 | CREBBP | c.5469C>A (p.Ile1823=) c.5355C>A (p.Ile1785=) c.5424C>A (p.Ile1808=) c.5052C>A (p.Ile1684=) c.5208C>A (p.Ile1736=) c.5415C>A (p.Ile1805=) c.4716C>A (p.Ile1572=) c.5463C>A (p.Ile1821=) | |
16 | g.3729579A>C | CA394556255 | CREBBP | c.5468T>G (p.Ile1823Ser) c.5354T>G (p.Ile1785Ser) c.5423T>G (p.Ile1808Ser) c.5051T>G (p.Ile1684Ser) c.5207T>G (p.Ile1736Ser) c.5414T>G (p.Ile1805Ser) c.4715T>G (p.Ile1572Ser) c.5462T>G (p.Ile1821Ser) | dbSNP |
16 | g.3729579A>G | CA394556257 | CREBBP | c.5468T>C (p.Ile1823Thr) c.5354T>C (p.Ile1785Thr) c.5423T>C (p.Ile1808Thr) c.5051T>C (p.Ile1684Thr) c.5207T>C (p.Ile1736Thr) c.5414T>C (p.Ile1805Thr) c.4715T>C (p.Ile1572Thr) c.5462T>C (p.Ile1821Thr) | dbSNP |
16 | g.3729579A>T | CA394556256 | CREBBP | c.5468T>A (p.Ile1823Asn) c.5354T>A (p.Ile1785Asn) c.5423T>A (p.Ile1808Asn) c.5051T>A (p.Ile1684Asn) c.5207T>A (p.Ile1736Asn) c.5414T>A (p.Ile1805Asn) c.4715T>A (p.Ile1572Asn) c.5462T>A (p.Ile1821Asn) | dbSNP |
16 | g.3729580T>A | CA394556258 | CREBBP | c.5467A>T (p.Ile1823Phe) c.5353A>T (p.Ile1785Phe) c.5422A>T (p.Ile1808Phe) c.5050A>T (p.Ile1684Phe) c.5206A>T (p.Ile1736Phe) c.5413A>T (p.Ile1805Phe) c.4714A>T (p.Ile1572Phe) c.5461A>T (p.Ile1821Phe) | ClinVar dbSNP |
16 | g.3729580T>C | CA394556259 | CREBBP | c.5467A>G (p.Ile1823Val) c.5353A>G (p.Ile1785Val) c.5422A>G (p.Ile1808Val) c.5050A>G (p.Ile1684Val) c.5206A>G (p.Ile1736Val) c.5413A>G (p.Ile1805Val) c.4714A>G (p.Ile1572Val) c.5461A>G (p.Ile1821Val) | |
16 | g.3729580T>G | CA394556261 | CREBBP | c.5467A>C (p.Ile1823Leu) c.5353A>C (p.Ile1785Leu) c.5422A>C (p.Ile1808Leu) c.5050A>C (p.Ile1684Leu) c.5206A>C (p.Ile1736Leu) c.5413A>C (p.Ile1805Leu) c.4714A>C (p.Ile1572Leu) c.5461A>C (p.Ile1821Leu) | dbSNP |
16 | g.3729581G>A | CA493394346 | CREBBP | c.5466C>T (p.Leu1822=) c.5352C>T (p.Leu1784=) c.5421C>T (p.Leu1807=) c.5049C>T (p.Leu1683=) c.5205C>T (p.Leu1735=) c.5412C>T (p.Leu1804=) c.4713C>T (p.Leu1571=) c.5460C>T (p.Leu1820=) | dbSNP gnomAD v4 |
16 | g.3729581G>C | CA493394347 | CREBBP | c.5466C>G (p.Leu1822=) c.5352C>G (p.Leu1784=) c.5421C>G (p.Leu1807=) c.5049C>G (p.Leu1683=) c.5205C>G (p.Leu1735=) c.5412C>G (p.Leu1804=) c.4713C>G (p.Leu1571=) c.5460C>G (p.Leu1820=) | dbSNP gnomAD v4 |
16 | g.3729581G>T | CA493394348 | CREBBP | c.5466C>A (p.Leu1822=) c.5352C>A (p.Leu1784=) c.5421C>A (p.Leu1807=) c.5049C>A (p.Leu1683=) c.5205C>A (p.Leu1735=) c.5412C>A (p.Leu1804=) c.4713C>A (p.Leu1571=) c.5460C>A (p.Leu1820=) | |
16 | g.3729582A>C | CA394556263 | CREBBP | c.5465T>G (p.Leu1822Arg) c.5351T>G (p.Leu1784Arg) c.5420T>G (p.Leu1807Arg) c.5048T>G (p.Leu1683Arg) c.5204T>G (p.Leu1735Arg) c.5411T>G (p.Leu1804Arg) c.4712T>G (p.Leu1571Arg) c.5459T>G (p.Leu1820Arg) | dbSNP |
16 | g.3729582A>G | CA394556265 | CREBBP | c.5465T>C (p.Leu1822Pro) c.5351T>C (p.Leu1784Pro) c.5420T>C (p.Leu1807Pro) c.5048T>C (p.Leu1683Pro) c.5204T>C (p.Leu1735Pro) c.5411T>C (p.Leu1804Pro) c.4712T>C (p.Leu1571Pro) c.5459T>C (p.Leu1820Pro) | dbSNP |
16 | g.3729582A>T | CA394556266 | CREBBP | c.5465T>A (p.Leu1822His) c.5351T>A (p.Leu1784His) c.5420T>A (p.Leu1807His) c.5048T>A (p.Leu1683His) c.5204T>A (p.Leu1735His) c.5411T>A (p.Leu1804His) c.4712T>A (p.Leu1571His) c.5459T>A (p.Leu1820His) | dbSNP |
16 | g.3729583G>A | CA394556272 | CREBBP | c.5464C>T (p.Leu1822Phe) c.5350C>T (p.Leu1784Phe) c.5419C>T (p.Leu1807Phe) c.5047C>T (p.Leu1683Phe) c.5203C>T (p.Leu1735Phe) c.5410C>T (p.Leu1804Phe) c.4711C>T (p.Leu1571Phe) c.5458C>T (p.Leu1820Phe) | dbSNP |
16 | g.3729583G>C | CA394556269 | CREBBP | c.5464C>G (p.Leu1822Val) c.5350C>G (p.Leu1784Val) c.5419C>G (p.Leu1807Val) c.5047C>G (p.Leu1683Val) c.5203C>G (p.Leu1735Val) c.5410C>G (p.Leu1804Val) c.4711C>G (p.Leu1571Val) c.5458C>G (p.Leu1820Val) | dbSNP |
16 | g.3729583G>T | CA394556271 | CREBBP | c.5464C>A (p.Leu1822Ile) c.5350C>A (p.Leu1784Ile) c.5419C>A (p.Leu1807Ile) c.5047C>A (p.Leu1683Ile) c.5203C>A (p.Leu1735Ile) c.5410C>A (p.Leu1804Ile) c.4711C>A (p.Leu1571Ile) c.5458C>A (p.Leu1820Ile) | dbSNP |
16 | g.3729584C>A | CA394556275 | CREBBP | c.5463G>T (p.Gln1821His) c.5349G>T (p.Gln1783His) c.5418G>T (p.Gln1806His) c.5046G>T (p.Gln1682His) c.5202G>T (p.Gln1734His) c.5409G>T (p.Gln1803His) c.4710G>T (p.Gln1570His) c.5457G>T (p.Gln1819His) | dbSNP |
16 | g.3729584C>G | CA394556277 | CREBBP | c.5463G>C (p.Gln1821His) c.5349G>C (p.Gln1783His) c.5418G>C (p.Gln1806His) c.5046G>C (p.Gln1682His) c.5202G>C (p.Gln1734His) c.5409G>C (p.Gln1803His) c.4710G>C (p.Gln1570His) c.5457G>C (p.Gln1819His) | dbSNP |
16 | g.3729584C>T | CA493394352 | CREBBP | c.5463G>A (p.Gln1821=) c.5349G>A (p.Gln1783=) c.5418G>A (p.Gln1806=) c.5046G>A (p.Gln1682=) c.5202G>A (p.Gln1734=) c.5409G>A (p.Gln1803=) c.4710G>A (p.Gln1570=) c.5457G>A (p.Gln1819=) | dbSNP gnomAD v4 |
16 | g.3729585T>A | CA394556279 | CREBBP | c.5462A>T (p.Gln1821Leu) c.5348A>T (p.Gln1783Leu) c.5417A>T (p.Gln1806Leu) c.5045A>T (p.Gln1682Leu) c.5201A>T (p.Gln1734Leu) c.5408A>T (p.Gln1803Leu) c.4709A>T (p.Gln1570Leu) c.5456A>T (p.Gln1819Leu) | dbSNP |
16 | g.3729585T>C | CA394556281 | CREBBP | c.5462A>G (p.Gln1821Arg) c.5348A>G (p.Gln1783Arg) c.5417A>G (p.Gln1806Arg) c.5045A>G (p.Gln1682Arg) c.5201A>G (p.Gln1734Arg) c.5408A>G (p.Gln1803Arg) c.4709A>G (p.Gln1570Arg) c.5456A>G (p.Gln1819Arg) | ClinVar dbSNP |
16 | g.3729585T>G | CA394556283 | CREBBP | c.5462A>C (p.Gln1821Pro) c.5348A>C (p.Gln1783Pro) c.5417A>C (p.Gln1806Pro) c.5045A>C (p.Gln1682Pro) c.5201A>C (p.Gln1734Pro) c.5408A>C (p.Gln1803Pro) c.4709A>C (p.Gln1570Pro) c.5456A>C (p.Gln1819Pro) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729585T= | CA2202916458 | CREBBP | c.5462A= (p.Gln1821=) c.5348A= (p.Gln1783=) c.5417A= (p.Gln1806=) c.5045A= (p.Gln1682=) c.5201A= (p.Gln1734=) c.5408A= (p.Gln1803=) c.4709A= (p.Gln1570=) c.5456A= (p.Gln1819=) | |
16 | g.3729586G>A | CA394556284 | CREBBP | c.5461C>T (p.Gln1821Ter) c.5347C>T (p.Gln1783Ter) c.5416C>T (p.Gln1806Ter) c.5044C>T (p.Gln1682Ter) c.5200C>T (p.Gln1734Ter) c.5407C>T (p.Gln1803Ter) c.4708C>T (p.Gln1570Ter) c.5455C>T (p.Gln1819Ter) | dbSNP |
16 | g.3729586G>C | CA394556288 | CREBBP | c.5461C>G (p.Gln1821Glu) c.5347C>G (p.Gln1783Glu) c.5416C>G (p.Gln1806Glu) c.5044C>G (p.Gln1682Glu) c.5200C>G (p.Gln1734Glu) c.5407C>G (p.Gln1803Glu) c.4708C>G (p.Gln1570Glu) c.5455C>G (p.Gln1819Glu) | dbSNP |
16 | g.3729586G>T | CA394556287 | CREBBP | c.5461C>A (p.Gln1821Lys) c.5347C>A (p.Gln1783Lys) c.5416C>A (p.Gln1806Lys) c.5044C>A (p.Gln1682Lys) c.5200C>A (p.Gln1734Lys) c.5407C>A (p.Gln1803Lys) c.4708C>A (p.Gln1570Lys) c.5455C>A (p.Gln1819Lys) | |
16 | g.3729587C>A | CA394556290 | CREBBP | c.5460G>T (p.Lys1820Asn) c.5346G>T (p.Lys1782Asn) c.5415G>T (p.Lys1805Asn) c.5043G>T (p.Lys1681Asn) c.5199G>T (p.Lys1733Asn) c.5406G>T (p.Lys1802Asn) c.4707G>T (p.Lys1569Asn) c.5454G>T (p.Lys1818Asn) | dbSNP |
16 | g.3729587C= | CA2202916459 | CREBBP | c.5460G= (p.Lys1820=) c.5346G= (p.Lys1782=) c.5415G= (p.Lys1805=) c.5043G= (p.Lys1681=) c.5199G= (p.Lys1733=) c.5406G= (p.Lys1802=) c.4707G= (p.Lys1569=) c.5454G= (p.Lys1818=) | |
16 | g.3729587C>G | CA394556292 | CREBBP | c.5460G>C (p.Lys1820Asn) c.5346G>C (p.Lys1782Asn) c.5415G>C (p.Lys1805Asn) c.5043G>C (p.Lys1681Asn) c.5199G>C (p.Lys1733Asn) c.5406G>C (p.Lys1802Asn) c.4707G>C (p.Lys1569Asn) c.5454G>C (p.Lys1818Asn) | dbSNP |
16 | g.3729587C>T | CA7869278 | CREBBP | c.5460G>A (p.Lys1820=) c.5346G>A (p.Lys1782=) c.5415G>A (p.Lys1805=) c.5043G>A (p.Lys1681=) c.5199G>A (p.Lys1733=) c.5406G>A (p.Lys1802=) c.4707G>A (p.Lys1569=) c.5454G>A (p.Lys1818=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729588T>A | CA394556296 | CREBBP | c.5459A>T (p.Lys1820Met) c.5345A>T (p.Lys1782Met) c.5414A>T (p.Lys1805Met) c.5042A>T (p.Lys1681Met) c.5198A>T (p.Lys1733Met) c.5405A>T (p.Lys1802Met) c.4706A>T (p.Lys1569Met) c.5453A>T (p.Lys1818Met) | gnomAD v4 |
16 | g.3729588T>C | CA394556298 | CREBBP | c.5459A>G (p.Lys1820Arg) c.5345A>G (p.Lys1782Arg) c.5414A>G (p.Lys1805Arg) c.5042A>G (p.Lys1681Arg) c.5198A>G (p.Lys1733Arg) c.5405A>G (p.Lys1802Arg) c.4706A>G (p.Lys1569Arg) c.5453A>G (p.Lys1818Arg) | ClinVar dbSNP gnomAD v4 |
16 | g.3729588T>G | CA394556299 | CREBBP | c.5459A>C (p.Lys1820Thr) c.5345A>C (p.Lys1782Thr) c.5414A>C (p.Lys1805Thr) c.5042A>C (p.Lys1681Thr) c.5198A>C (p.Lys1733Thr) c.5405A>C (p.Lys1802Thr) c.4706A>C (p.Lys1569Thr) c.5453A>C (p.Lys1818Thr) | |
16 | g.3729588T= | CA2202916460 | CREBBP | c.5459A= (p.Lys1820=) c.5345A= (p.Lys1782=) c.5414A= (p.Lys1805=) c.5042A= (p.Lys1681=) c.5198A= (p.Lys1733=) c.5405A= (p.Lys1802=) c.4706A= (p.Lys1569=) c.5453A= (p.Lys1818=) | |
16 | g.3729589T>A | CA394556302 | CREBBP | c.5458A>T (p.Lys1820Ter) c.5344A>T (p.Lys1782Ter) c.5413A>T (p.Lys1805Ter) c.5041A>T (p.Lys1681Ter) c.5197A>T (p.Lys1733Ter) c.5404A>T (p.Lys1802Ter) c.4705A>T (p.Lys1569Ter) c.5452A>T (p.Lys1818Ter) | dbSNP |
16 | g.3729589T>C | CA394556303 | CREBBP | c.5458A>G (p.Lys1820Glu) c.5344A>G (p.Lys1782Glu) c.5413A>G (p.Lys1805Glu) c.5041A>G (p.Lys1681Glu) c.5197A>G (p.Lys1733Glu) c.5404A>G (p.Lys1802Glu) c.4705A>G (p.Lys1569Glu) c.5452A>G (p.Lys1818Glu) | |
16 | g.3729589T>G | CA394556305 | CREBBP | c.5458A>C (p.Lys1820Gln) c.5344A>C (p.Lys1782Gln) c.5413A>C (p.Lys1805Gln) c.5041A>C (p.Lys1681Gln) c.5197A>C (p.Lys1733Gln) c.5404A>C (p.Lys1802Gln) c.4705A>C (p.Lys1569Gln) c.5452A>C (p.Lys1818Gln) | |
16 | g.3729590G>A | CA493394360 | CREBBP | c.5457C>T (p.Cys1819=) c.5343C>T (p.Cys1781=) c.5412C>T (p.Cys1804=) c.5040C>T (p.Cys1680=) c.5196C>T (p.Cys1732=) c.5403C>T (p.Cys1801=) c.4704C>T (p.Cys1568=) c.5451C>T (p.Cys1817=) | dbSNP gnomAD v4 |
16 | g.3729590G>C | CA394556308 | CREBBP | c.5457C>G (p.Cys1819Trp) c.5343C>G (p.Cys1781Trp) c.5412C>G (p.Cys1804Trp) c.5040C>G (p.Cys1680Trp) c.5196C>G (p.Cys1732Trp) c.5403C>G (p.Cys1801Trp) c.4704C>G (p.Cys1568Trp) c.5451C>G (p.Cys1817Trp) | dbSNP |
16 | g.3729590G>T | CA394556309 | CREBBP | c.5457C>A (p.Cys1819Ter) c.5343C>A (p.Cys1781Ter) c.5412C>A (p.Cys1804Ter) c.5040C>A (p.Cys1680Ter) c.5196C>A (p.Cys1732Ter) c.5403C>A (p.Cys1801Ter) c.4704C>A (p.Cys1568Ter) c.5451C>A (p.Cys1817Ter) | COSMIC |
16 | g.3729591C>A | CA394556315 | CREBBP | c.5456G>T (p.Cys1819Phe) c.5342G>T (p.Cys1781Phe) c.5411G>T (p.Cys1804Phe) c.5039G>T (p.Cys1680Phe) c.5195G>T (p.Cys1732Phe) c.5402G>T (p.Cys1801Phe) c.4703G>T (p.Cys1568Phe) c.5450G>T (p.Cys1817Phe) | |
16 | g.3729591C>G | CA394556312 | CREBBP | c.5456G>C (p.Cys1819Ser) c.5342G>C (p.Cys1781Ser) c.5411G>C (p.Cys1804Ser) c.5039G>C (p.Cys1680Ser) c.5195G>C (p.Cys1732Ser) c.5402G>C (p.Cys1801Ser) c.4703G>C (p.Cys1568Ser) c.5450G>C (p.Cys1817Ser) | dbSNP |
16 | g.3729591C>T | CA394556313 | CREBBP | c.5456G>A (p.Cys1819Tyr) c.5342G>A (p.Cys1781Tyr) c.5411G>A (p.Cys1804Tyr) c.5039G>A (p.Cys1680Tyr) c.5195G>A (p.Cys1732Tyr) c.5402G>A (p.Cys1801Tyr) c.4703G>A (p.Cys1568Tyr) c.5450G>A (p.Cys1817Tyr) | dbSNP |
16 | g.3729592A>C | CA394556317 | CREBBP | c.5455T>G (p.Cys1819Gly) c.5341T>G (p.Cys1781Gly) c.5410T>G (p.Cys1804Gly) c.5038T>G (p.Cys1680Gly) c.5194T>G (p.Cys1732Gly) c.5401T>G (p.Cys1801Gly) c.4702T>G (p.Cys1568Gly) c.5449T>G (p.Cys1817Gly) | dbSNP |
16 | g.3729592A>G | CA394556319 | CREBBP | c.5455T>C (p.Cys1819Arg) c.5341T>C (p.Cys1781Arg) c.5410T>C (p.Cys1804Arg) c.5038T>C (p.Cys1680Arg) c.5194T>C (p.Cys1732Arg) c.5401T>C (p.Cys1801Arg) c.4702T>C (p.Cys1568Arg) c.5449T>C (p.Cys1817Arg) | dbSNP |
16 | g.3729592A>T | CA394556321 | CREBBP | c.5455T>A (p.Cys1819Ser) c.5341T>A (p.Cys1781Ser) c.5410T>A (p.Cys1804Ser) c.5038T>A (p.Cys1680Ser) c.5194T>A (p.Cys1732Ser) c.5401T>A (p.Cys1801Ser) c.4702T>A (p.Cys1568Ser) c.5449T>A (p.Cys1817Ser) | dbSNP |
16 | g.3729593C>A | CA493394361 | CREBBP | c.5454G>T (p.Val1818=) c.5340G>T (p.Val1780=) c.5409G>T (p.Val1803=) c.5037G>T (p.Val1679=) c.5193G>T (p.Val1731=) c.5400G>T (p.Val1800=) c.4701G>T (p.Val1567=) c.5448G>T (p.Val1816=) | |
16 | g.3729593C= | CA2202916461 | CREBBP | c.5454G= (p.Val1818=) c.5340G= (p.Val1780=) c.5409G= (p.Val1803=) c.5037G= (p.Val1679=) c.5193G= (p.Val1731=) c.5400G= (p.Val1800=) c.4701G= (p.Val1567=) c.5448G= (p.Val1816=) | |
16 | g.3729593C>G | CA493394362 | CREBBP | c.5454G>C (p.Val1818=) c.5340G>C (p.Val1780=) c.5409G>C (p.Val1803=) c.5037G>C (p.Val1679=) c.5193G>C (p.Val1731=) c.5400G>C (p.Val1800=) c.4701G>C (p.Val1567=) c.5448G>C (p.Val1816=) | dbSNP |
16 | g.3729593C>T | CA171798 | CREBBP | c.5454G>A (p.Val1818=) c.5340G>A (p.Val1780=) c.5409G>A (p.Val1803=) c.5037G>A (p.Val1679=) c.5193G>A (p.Val1731=) c.5400G>A (p.Val1800=) c.4701G>A (p.Val1567=) c.5448G>A (p.Val1816=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729594A>C | CA394556325 | CREBBP | c.5453T>G (p.Val1818Gly) c.5339T>G (p.Val1780Gly) c.5408T>G (p.Val1803Gly) c.5036T>G (p.Val1679Gly) c.5192T>G (p.Val1731Gly) c.5399T>G (p.Val1800Gly) c.4700T>G (p.Val1567Gly) c.5447T>G (p.Val1816Gly) | dbSNP |
16 | g.3729594A>G | CA394556326 | CREBBP | c.5453T>C (p.Val1818Ala) c.5339T>C (p.Val1780Ala) c.5408T>C (p.Val1803Ala) c.5036T>C (p.Val1679Ala) c.5192T>C (p.Val1731Ala) c.5399T>C (p.Val1800Ala) c.4700T>C (p.Val1567Ala) c.5447T>C (p.Val1816Ala) | |
16 | g.3729594A>T | CA394556328 | CREBBP | c.5453T>A (p.Val1818Glu) c.5339T>A (p.Val1780Glu) c.5408T>A (p.Val1803Glu) c.5036T>A (p.Val1679Glu) c.5192T>A (p.Val1731Glu) c.5399T>A (p.Val1800Glu) c.4700T>A (p.Val1567Glu) c.5447T>A (p.Val1816Glu) | dbSNP |
16 | g.3729595C>A | CA394556330 | CREBBP | c.5452G>T (p.Val1818Leu) c.5338G>T (p.Val1780Leu) c.5407G>T (p.Val1803Leu) c.5035G>T (p.Val1679Leu) c.5191G>T (p.Val1731Leu) c.5398G>T (p.Val1800Leu) c.4699G>T (p.Val1567Leu) c.5446G>T (p.Val1816Leu) | dbSNP |
16 | g.3729595C>G | CA394556332 | CREBBP | c.5452G>C (p.Val1818Leu) c.5338G>C (p.Val1780Leu) c.5407G>C (p.Val1803Leu) c.5035G>C (p.Val1679Leu) c.5191G>C (p.Val1731Leu) c.5398G>C (p.Val1800Leu) c.4699G>C (p.Val1567Leu) c.5446G>C (p.Val1816Leu) | dbSNP |
16 | g.3729595C>T | CA394556334 | CREBBP | c.5452G>A (p.Val1818Met) c.5338G>A (p.Val1780Met) c.5407G>A (p.Val1803Met) c.5035G>A (p.Val1679Met) c.5191G>A (p.Val1731Met) c.5398G>A (p.Val1800Met) c.4699G>A (p.Val1567Met) c.5446G>A (p.Val1816Met) | dbSNP |
16 | g.3729596C>A | CA493394363 | CREBBP | c.5451G>T (p.Pro1817=) c.5337G>T (p.Pro1779=) c.5406G>T (p.Pro1802=) c.5034G>T (p.Pro1678=) c.5190G>T (p.Pro1730=) c.5397G>T (p.Pro1799=) c.4698G>T (p.Pro1566=) c.5445G>T (p.Pro1815=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729596C= | CA2202916462 | CREBBP | c.5451G= (p.Pro1817=) c.5337G= (p.Pro1779=) c.5406G= (p.Pro1802=) c.5034G= (p.Pro1678=) c.5190G= (p.Pro1730=) c.5397G= (p.Pro1799=) c.4698G= (p.Pro1566=) c.5445G= (p.Pro1815=) | |
16 | g.3729596C>G | CA493394364 | CREBBP | c.5451G>C (p.Pro1817=) c.5337G>C (p.Pro1779=) c.5406G>C (p.Pro1802=) c.5034G>C (p.Pro1678=) c.5190G>C (p.Pro1730=) c.5397G>C (p.Pro1799=) c.4698G>C (p.Pro1566=) c.5445G>C (p.Pro1815=) | |
16 | g.3729596C>T | CA7869279 | CREBBP | c.5451G>A (p.Pro1817=) c.5337G>A (p.Pro1779=) c.5406G>A (p.Pro1802=) c.5034G>A (p.Pro1678=) c.5190G>A (p.Pro1730=) c.5397G>A (p.Pro1799=) c.4698G>A (p.Pro1566=) c.5445G>A (p.Pro1815=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729597G>A | CA394556338 | CREBBP | c.5450C>T (p.Pro1817Leu) c.5336C>T (p.Pro1779Leu) c.5405C>T (p.Pro1802Leu) c.5033C>T (p.Pro1678Leu) c.5189C>T (p.Pro1730Leu) c.5396C>T (p.Pro1799Leu) c.4697C>T (p.Pro1566Leu) c.5444C>T (p.Pro1815Leu) | dbSNP gnomAD v4 COSMIC |
16 | g.3729597G>C | CA394556340 | CREBBP | c.5450C>G (p.Pro1817Arg) c.5336C>G (p.Pro1779Arg) c.5405C>G (p.Pro1802Arg) c.5033C>G (p.Pro1678Arg) c.5189C>G (p.Pro1730Arg) c.5396C>G (p.Pro1799Arg) c.4697C>G (p.Pro1566Arg) c.5444C>G (p.Pro1815Arg) | dbSNP |
16 | g.3729597G>T | CA394556342 | CREBBP | c.5450C>A (p.Pro1817Gln) c.5336C>A (p.Pro1779Gln) c.5405C>A (p.Pro1802Gln) c.5033C>A (p.Pro1678Gln) c.5189C>A (p.Pro1730Gln) c.5396C>A (p.Pro1799Gln) c.4697C>A (p.Pro1566Gln) c.5444C>A (p.Pro1815Gln) | dbSNP |
16 | g.3729598G>A | CA394556348 | CREBBP | c.5449C>T (p.Pro1817Ser) c.5335C>T (p.Pro1779Ser) c.5404C>T (p.Pro1802Ser) c.5032C>T (p.Pro1678Ser) c.5188C>T (p.Pro1730Ser) c.5395C>T (p.Pro1799Ser) c.4696C>T (p.Pro1566Ser) c.5443C>T (p.Pro1815Ser) | dbSNP |
16 | g.3729598G>C | CA394556346 | CREBBP | c.5449C>G (p.Pro1817Ala) c.5335C>G (p.Pro1779Ala) c.5404C>G (p.Pro1802Ala) c.5032C>G (p.Pro1678Ala) c.5188C>G (p.Pro1730Ala) c.5395C>G (p.Pro1799Ala) c.4696C>G (p.Pro1566Ala) c.5443C>G (p.Pro1815Ala) | dbSNP |
16 | g.3729598G>T | CA394556344 | CREBBP | c.5449C>A (p.Pro1817Thr) c.5335C>A (p.Pro1779Thr) c.5404C>A (p.Pro1802Thr) c.5032C>A (p.Pro1678Thr) c.5188C>A (p.Pro1730Thr) c.5395C>A (p.Pro1799Thr) c.4696C>A (p.Pro1566Thr) c.5443C>A (p.Pro1815Thr) | dbSNP |
16 | g.3729599G>A | CA493394365 | CREBBP | c.5448C>T (p.Cys1816=) c.5334C>T (p.Cys1778=) c.5403C>T (p.Cys1801=) c.5031C>T (p.Cys1677=) c.5187C>T (p.Cys1729=) c.5394C>T (p.Cys1798=) c.4695C>T (p.Cys1565=) c.5442C>T (p.Cys1814=) | dbSNP |
16 | g.3729599G>C | CA394556350 | CREBBP | c.5448C>G (p.Cys1816Trp) c.5334C>G (p.Cys1778Trp) c.5403C>G (p.Cys1801Trp) c.5031C>G (p.Cys1677Trp) c.5187C>G (p.Cys1729Trp) c.5394C>G (p.Cys1798Trp) c.4695C>G (p.Cys1565Trp) c.5442C>G (p.Cys1814Trp) | dbSNP |
16 | g.3729599G>T | CA394556352 | CREBBP | c.5448C>A (p.Cys1816Ter) c.5334C>A (p.Cys1778Ter) c.5403C>A (p.Cys1801Ter) c.5031C>A (p.Cys1677Ter) c.5187C>A (p.Cys1729Ter) c.5394C>A (p.Cys1798Ter) c.4695C>A (p.Cys1565Ter) c.5442C>A (p.Cys1814Ter) | dbSNP |
16 | g.3729600C>A | CA394556354 | CREBBP | c.5447G>T (p.Cys1816Phe) c.5333G>T (p.Cys1778Phe) c.5402G>T (p.Cys1801Phe) c.5030G>T (p.Cys1677Phe) c.5186G>T (p.Cys1729Phe) c.5393G>T (p.Cys1798Phe) c.4694G>T (p.Cys1565Phe) c.5441G>T (p.Cys1814Phe) | dbSNP COSMIC |
16 | g.3729600C>G | CA394556355 | CREBBP | c.5447G>C (p.Cys1816Ser) c.5333G>C (p.Cys1778Ser) c.5402G>C (p.Cys1801Ser) c.5030G>C (p.Cys1677Ser) c.5186G>C (p.Cys1729Ser) c.5393G>C (p.Cys1798Ser) c.4694G>C (p.Cys1565Ser) c.5441G>C (p.Cys1814Ser) | dbSNP |
16 | g.3729600C>T | CA394556357 | CREBBP | c.5447G>A (p.Cys1816Tyr) c.5333G>A (p.Cys1778Tyr) c.5402G>A (p.Cys1801Tyr) c.5030G>A (p.Cys1677Tyr) c.5186G>A (p.Cys1729Tyr) c.5393G>A (p.Cys1798Tyr) c.4694G>A (p.Cys1565Tyr) c.5441G>A (p.Cys1814Tyr) | dbSNP |
16 | g.3729601A>C | CA394556359 | CREBBP | c.5446T>G (p.Cys1816Gly) c.5332T>G (p.Cys1778Gly) c.5401T>G (p.Cys1801Gly) c.5029T>G (p.Cys1677Gly) c.5185T>G (p.Cys1729Gly) c.5392T>G (p.Cys1798Gly) c.4693T>G (p.Cys1565Gly) c.5440T>G (p.Cys1814Gly) | dbSNP |
16 | g.3729601A>G | CA394556361 | CREBBP | c.5446T>C (p.Cys1816Arg) c.5332T>C (p.Cys1778Arg) c.5401T>C (p.Cys1801Arg) c.5029T>C (p.Cys1677Arg) c.5185T>C (p.Cys1729Arg) c.5392T>C (p.Cys1798Arg) c.4693T>C (p.Cys1565Arg) c.5440T>C (p.Cys1814Arg) | dbSNP |
16 | g.3729601A>T | CA394556362 | CREBBP | c.5446T>A (p.Cys1816Ser) c.5332T>A (p.Cys1778Ser) c.5401T>A (p.Cys1801Ser) c.5029T>A (p.Cys1677Ser) c.5185T>A (p.Cys1729Ser) c.5392T>A (p.Cys1798Ser) c.4693T>A (p.Cys1565Ser) c.5440T>A (p.Cys1814Ser) | dbSNP |
16 | g.3729601_3729602insCTGCCAAGAAAACAAAT | CA2805632981 | CREBBP | c.5445_5446insATTTGTTTTCTTGGCAG (p.Cys1816IlefsTer?) c.5331_5332insATTTGTTTTCTTGGCAG (p.Cys1778IlefsTer?) c.5400_5401insATTTGTTTTCTTGGCAG (p.Cys1801IlefsTer?) c.5028_5029insATTTGTTTTCTTGGCAG (p.Cys1677IlefsTer?) c.5184_5185insATTTGTTTTCTTGGCAG (p.Cys1729IlefsTer?) c.5391_5392insATTTGTTTTCTTGGCAG (p.Cys1798IlefsTer?) c.4692_4693insATTTGTTTTCTTGGCAG (p.Cys1565IlefsTer?) c.5439_5440insATTTGTTTTCTTGGCAG (p.Cys1814IlefsTer?) | |
16 | g.3729602G>A | CA493394366 | CREBBP | c.5445C>T (p.Gly1815=) c.5331C>T (p.Gly1777=) c.5400C>T (p.Gly1800=) c.5028C>T (p.Gly1676=) c.5184C>T (p.Gly1728=) c.5391C>T (p.Gly1797=) c.4692C>T (p.Gly1564=) c.5439C>T (p.Gly1813=) | |
16 | g.3729602G>C | CA493394367 | CREBBP | c.5445C>G (p.Gly1815=) c.5331C>G (p.Gly1777=) c.5400C>G (p.Gly1800=) c.5028C>G (p.Gly1676=) c.5184C>G (p.Gly1728=) c.5391C>G (p.Gly1797=) c.4692C>G (p.Gly1564=) c.5439C>G (p.Gly1813=) | |
16 | g.3729602G>T | CA493394368 | CREBBP | c.5445C>A (p.Gly1815=) c.5331C>A (p.Gly1777=) c.5400C>A (p.Gly1800=) c.5028C>A (p.Gly1676=) c.5184C>A (p.Gly1728=) c.5391C>A (p.Gly1797=) c.4692C>A (p.Gly1564=) c.5439C>A (p.Gly1813=) | dbSNP |
16 | g.3729603C>A | CA394556365 | CREBBP | c.5444G>T (p.Gly1815Val) c.5330G>T (p.Gly1777Val) c.5399G>T (p.Gly1800Val) c.5027G>T (p.Gly1676Val) c.5183G>T (p.Gly1728Val) c.5390G>T (p.Gly1797Val) c.4691G>T (p.Gly1564Val) c.5438G>T (p.Gly1813Val) | dbSNP |
16 | g.3729603C>G | CA394556367 | CREBBP | c.5444G>C (p.Gly1815Ala) c.5330G>C (p.Gly1777Ala) c.5399G>C (p.Gly1800Ala) c.5027G>C (p.Gly1676Ala) c.5183G>C (p.Gly1728Ala) c.5390G>C (p.Gly1797Ala) c.4691G>C (p.Gly1564Ala) c.5438G>C (p.Gly1813Ala) | dbSNP |
16 | g.3729603C>T | CA394556369 | CREBBP | c.5444G>A (p.Gly1815Asp) c.5330G>A (p.Gly1777Asp) c.5399G>A (p.Gly1800Asp) c.5027G>A (p.Gly1676Asp) c.5183G>A (p.Gly1728Asp) c.5390G>A (p.Gly1797Asp) c.4691G>A (p.Gly1564Asp) c.5438G>A (p.Gly1813Asp) | dbSNP COSMIC |
16 | g.3729604C>A | CA394556371 | CREBBP | c.5443G>T (p.Gly1815Cys) c.5329G>T (p.Gly1777Cys) c.5398G>T (p.Gly1800Cys) c.5026G>T (p.Gly1676Cys) c.5182G>T (p.Gly1728Cys) c.5389G>T (p.Gly1797Cys) c.4690G>T (p.Gly1564Cys) c.5437G>T (p.Gly1813Cys) | dbSNP |
16 | g.3729604C= | CA2202916463 | CREBBP | c.5443G= (p.Gly1815=) c.5329G= (p.Gly1777=) c.5398G= (p.Gly1800=) c.5026G= (p.Gly1676=) c.5182G= (p.Gly1728=) c.5389G= (p.Gly1797=) c.4690G= (p.Gly1564=) c.5437G= (p.Gly1813=) | |
16 | g.3729604C>G | CA394556373 | CREBBP | c.5443G>C (p.Gly1815Arg) c.5329G>C (p.Gly1777Arg) c.5398G>C (p.Gly1800Arg) c.5026G>C (p.Gly1676Arg) c.5182G>C (p.Gly1728Arg) c.5389G>C (p.Gly1797Arg) c.4690G>C (p.Gly1564Arg) c.5437G>C (p.Gly1813Arg) | |
16 | g.3729604C>T | CA394556375 | CREBBP | c.5443G>A (p.Gly1815Ser) c.5329G>A (p.Gly1777Ser) c.5398G>A (p.Gly1800Ser) c.5026G>A (p.Gly1676Ser) c.5182G>A (p.Gly1728Ser) c.5389G>A (p.Gly1797Ser) c.4690G>A (p.Gly1564Ser) c.5437G>A (p.Gly1813Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729605C>A | CA493394369 | CREBBP | c.5442G>T (p.Gly1814=) c.5328G>T (p.Gly1776=) c.5397G>T (p.Gly1799=) c.5025G>T (p.Gly1675=) c.5181G>T (p.Gly1727=) c.5388G>T (p.Gly1796=) c.4689G>T (p.Gly1563=) c.5436G>T (p.Gly1812=) | dbSNP gnomAD v4 |
16 | g.3729605C= | CA2202916464 | CREBBP | c.5442G= (p.Gly1814=) c.5328G= (p.Gly1776=) c.5397G= (p.Gly1799=) c.5025G= (p.Gly1675=) c.5181G= (p.Gly1727=) c.5388G= (p.Gly1796=) c.4689G= (p.Gly1563=) c.5436G= (p.Gly1812=) | |
16 | g.3729605C>G | CA493394370 | CREBBP | c.5442G>C (p.Gly1814=) c.5328G>C (p.Gly1776=) c.5397G>C (p.Gly1799=) c.5025G>C (p.Gly1675=) c.5181G>C (p.Gly1727=) c.5388G>C (p.Gly1796=) c.4689G>C (p.Gly1563=) c.5436G>C (p.Gly1812=) | dbSNP |
16 | g.3729605C>T | CA276972238 | CREBBP | c.5442G>A (p.Gly1814=) c.5328G>A (p.Gly1776=) c.5397G>A (p.Gly1799=) c.5025G>A (p.Gly1675=) c.5181G>A (p.Gly1727=) c.5388G>A (p.Gly1796=) c.4689G>A (p.Gly1563=) c.5436G>A (p.Gly1812=) | dbSNP |
16 | g.3729606C>A | CA394556379 | CREBBP | c.5441G>T (p.Gly1814Val) c.5327G>T (p.Gly1776Val) c.5396G>T (p.Gly1799Val) c.5024G>T (p.Gly1675Val) c.5180G>T (p.Gly1727Val) c.5387G>T (p.Gly1796Val) c.4688G>T (p.Gly1563Val) c.5435G>T (p.Gly1812Val) | |
16 | g.3729606C= | CA2202916465 | CREBBP | c.5441G= (p.Gly1814=) c.5327G= (p.Gly1776=) c.5396G= (p.Gly1799=) c.5024G= (p.Gly1675=) c.5180G= (p.Gly1727=) c.5387G= (p.Gly1796=) c.4688G= (p.Gly1563=) c.5435G= (p.Gly1812=) | |
16 | g.3729606C>G | CA7869280 | CREBBP | c.5441G>C (p.Gly1814Ala) c.5327G>C (p.Gly1776Ala) c.5396G>C (p.Gly1799Ala) c.5024G>C (p.Gly1675Ala) c.5180G>C (p.Gly1727Ala) c.5387G>C (p.Gly1796Ala) c.4688G>C (p.Gly1563Ala) c.5435G>C (p.Gly1812Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729606C>T | CA394556377 | CREBBP | c.5441G>A (p.Gly1814Glu) c.5327G>A (p.Gly1776Glu) c.5396G>A (p.Gly1799Glu) c.5024G>A (p.Gly1675Glu) c.5180G>A (p.Gly1727Glu) c.5387G>A (p.Gly1796Glu) c.4688G>A (p.Gly1563Glu) c.5435G>A (p.Gly1812Glu) | |
16 | g.3729607C>A | CA7869281 | CREBBP | c.5440G>T (p.Gly1814Trp) c.5326G>T (p.Gly1776Trp) c.5395G>T (p.Gly1799Trp) c.5023G>T (p.Gly1675Trp) c.5179G>T (p.Gly1727Trp) c.5386G>T (p.Gly1796Trp) c.4687G>T (p.Gly1563Trp) c.5434G>T (p.Gly1812Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729607C= | CA2202916466 | CREBBP | c.5440G= (p.Gly1814=) c.5326G= (p.Gly1776=) c.5395G= (p.Gly1799=) c.5023G= (p.Gly1675=) c.5179G= (p.Gly1727=) c.5386G= (p.Gly1796=) c.4687G= (p.Gly1563=) c.5434G= (p.Gly1812=) | |
16 | g.3729607C>G | CA394556384 | CREBBP | c.5440G>C (p.Gly1814Arg) c.5326G>C (p.Gly1776Arg) c.5395G>C (p.Gly1799Arg) c.5023G>C (p.Gly1675Arg) c.5179G>C (p.Gly1727Arg) c.5386G>C (p.Gly1796Arg) c.4687G>C (p.Gly1563Arg) c.5434G>C (p.Gly1812Arg) | dbSNP |
16 | g.3729607C>T | CA394556386 | CREBBP | c.5440G>A (p.Gly1814Arg) c.5326G>A (p.Gly1776Arg) c.5395G>A (p.Gly1799Arg) c.5023G>A (p.Gly1675Arg) c.5179G>A (p.Gly1727Arg) c.5386G>A (p.Gly1796Arg) c.4687G>A (p.Gly1563Arg) c.5434G>A (p.Gly1812Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
16 | g.3729608G>A | CA276972245 | CREBBP | c.5439C>T (p.Asn1813=) c.5325C>T (p.Asn1775=) c.5394C>T (p.Asn1798=) c.5022C>T (p.Asn1674=) c.5178C>T (p.Asn1726=) c.5385C>T (p.Asn1795=) c.4686C>T (p.Asn1562=) c.5433C>T (p.Asn1811=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729608G>C | CA394556389 | CREBBP | c.5439C>G (p.Asn1813Lys) c.5325C>G (p.Asn1775Lys) c.5394C>G (p.Asn1798Lys) c.5022C>G (p.Asn1674Lys) c.5178C>G (p.Asn1726Lys) c.5385C>G (p.Asn1795Lys) c.4686C>G (p.Asn1562Lys) c.5433C>G (p.Asn1811Lys) | ClinVar dbSNP |
16 | g.3729608G= | CA2202916467 | CREBBP | c.5439C= (p.Asn1813=) c.5325C= (p.Asn1775=) c.5394C= (p.Asn1798=) c.5022C= (p.Asn1674=) c.5178C= (p.Asn1726=) c.5385C= (p.Asn1795=) c.4686C= (p.Asn1562=) c.5433C= (p.Asn1811=) | |
16 | g.3729608G>T | CA394556390 | CREBBP | c.5439C>A (p.Asn1813Lys) c.5325C>A (p.Asn1775Lys) c.5394C>A (p.Asn1798Lys) c.5022C>A (p.Asn1674Lys) c.5178C>A (p.Asn1726Lys) c.5385C>A (p.Asn1795Lys) c.4686C>A (p.Asn1562Lys) c.5433C>A (p.Asn1811Lys) | dbSNP |
16 | g.3729609T>A | CA394556395 | CREBBP | c.5438A>T (p.Asn1813Ile) c.5324A>T (p.Asn1775Ile) c.5393A>T (p.Asn1798Ile) c.5021A>T (p.Asn1674Ile) c.5177A>T (p.Asn1726Ile) c.5384A>T (p.Asn1795Ile) c.4685A>T (p.Asn1562Ile) c.5432A>T (p.Asn1811Ile) | dbSNP |
16 | g.3729609T>C | CA394556397 | CREBBP | c.5438A>G (p.Asn1813Ser) c.5324A>G (p.Asn1775Ser) c.5393A>G (p.Asn1798Ser) c.5021A>G (p.Asn1674Ser) c.5177A>G (p.Asn1726Ser) c.5384A>G (p.Asn1795Ser) c.4685A>G (p.Asn1562Ser) c.5432A>G (p.Asn1811Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729609T>G | CA394556399 | CREBBP | c.5438A>C (p.Asn1813Thr) c.5324A>C (p.Asn1775Thr) c.5393A>C (p.Asn1798Thr) c.5021A>C (p.Asn1674Thr) c.5177A>C (p.Asn1726Thr) c.5384A>C (p.Asn1795Thr) c.4685A>C (p.Asn1562Thr) c.5432A>C (p.Asn1811Thr) | dbSNP |
16 | g.3729609T= | CA2202916468 | CREBBP | c.5438A= (p.Asn1813=) c.5324A= (p.Asn1775=) c.5393A= (p.Asn1798=) c.5021A= (p.Asn1674=) c.5177A= (p.Asn1726=) c.5384A= (p.Asn1795=) c.4685A= (p.Asn1562=) c.5432A= (p.Asn1811=) | |
16 | g.3729610T>A | CA394556402 | CREBBP | c.5437A>T (p.Asn1813Tyr) c.5323A>T (p.Asn1775Tyr) c.5392A>T (p.Asn1798Tyr) c.5020A>T (p.Asn1674Tyr) c.5176A>T (p.Asn1726Tyr) c.5383A>T (p.Asn1795Tyr) c.4684A>T (p.Asn1562Tyr) c.5431A>T (p.Asn1811Tyr) | dbSNP |
16 | g.3729610T>C | CA394556403 | CREBBP | c.5437A>G (p.Asn1813Asp) c.5323A>G (p.Asn1775Asp) c.5392A>G (p.Asn1798Asp) c.5020A>G (p.Asn1674Asp) c.5176A>G (p.Asn1726Asp) c.5383A>G (p.Asn1795Asp) c.4684A>G (p.Asn1562Asp) c.5431A>G (p.Asn1811Asp) | dbSNP |
16 | g.3729610T>G | CA394556405 | CREBBP | c.5437A>C (p.Asn1813His) c.5323A>C (p.Asn1775His) c.5392A>C (p.Asn1798His) c.5020A>C (p.Asn1674His) c.5176A>C (p.Asn1726His) c.5383A>C (p.Asn1795His) c.4684A>C (p.Asn1562His) c.5431A>C (p.Asn1811His) | dbSNP |
16 | g.3729611G>A | CA493394371 | CREBBP | c.5436C>T (p.Thr1812=) c.5322C>T (p.Thr1774=) c.5391C>T (p.Thr1797=) c.5019C>T (p.Thr1673=) c.5175C>T (p.Thr1725=) c.5382C>T (p.Thr1794=) c.4683C>T (p.Thr1561=) c.5430C>T (p.Thr1810=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729611G>C | CA148130 | CREBBP | c.5436C>G (p.Thr1812=) c.5322C>G (p.Thr1774=) c.5391C>G (p.Thr1797=) c.5019C>G (p.Thr1673=) c.5175C>G (p.Thr1725=) c.5382C>G (p.Thr1794=) c.4683C>G (p.Thr1561=) c.5430C>G (p.Thr1810=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729611G= | CA2202916469 | CREBBP | c.5436C= (p.Thr1812=) c.5322C= (p.Thr1774=) c.5391C= (p.Thr1797=) c.5019C= (p.Thr1673=) c.5175C= (p.Thr1725=) c.5382C= (p.Thr1794=) c.4683C= (p.Thr1561=) c.5430C= (p.Thr1810=) | |
16 | g.3729611G>T | CA493394372 | CREBBP | c.5436C>A (p.Thr1812=) c.5322C>A (p.Thr1774=) c.5391C>A (p.Thr1797=) c.5019C>A (p.Thr1673=) c.5175C>A (p.Thr1725=) c.5382C>A (p.Thr1794=) c.4683C>A (p.Thr1561=) c.5430C>A (p.Thr1810=) | dbSNP gnomAD v4 |
16 | g.3729612G>A | CA394556412 | CREBBP | c.5435C>T (p.Thr1812Ile) c.5321C>T (p.Thr1774Ile) c.5390C>T (p.Thr1797Ile) c.5018C>T (p.Thr1673Ile) c.5174C>T (p.Thr1725Ile) c.5381C>T (p.Thr1794Ile) c.4682C>T (p.Thr1561Ile) c.5429C>T (p.Thr1810Ile) | dbSNP |
16 | g.3729612G>C | CA394556409 | CREBBP | c.5435C>G (p.Thr1812Ser) c.5321C>G (p.Thr1774Ser) c.5390C>G (p.Thr1797Ser) c.5018C>G (p.Thr1673Ser) c.5174C>G (p.Thr1725Ser) c.5381C>G (p.Thr1794Ser) c.4682C>G (p.Thr1561Ser) c.5429C>G (p.Thr1810Ser) | dbSNP |
16 | g.3729612G>T | CA394556410 | CREBBP | c.5435C>A (p.Thr1812Asn) c.5321C>A (p.Thr1774Asn) c.5390C>A (p.Thr1797Asn) c.5018C>A (p.Thr1673Asn) c.5174C>A (p.Thr1725Asn) c.5381C>A (p.Thr1794Asn) c.4682C>A (p.Thr1561Asn) c.5429C>A (p.Thr1810Asn) | |
16 | g.3729613T>A | CA394556415 | CREBBP | c.5434A>T (p.Thr1812Ser) c.5320A>T (p.Thr1774Ser) c.5389A>T (p.Thr1797Ser) c.5017A>T (p.Thr1673Ser) c.5173A>T (p.Thr1725Ser) c.5380A>T (p.Thr1794Ser) c.4681A>T (p.Thr1561Ser) c.5428A>T (p.Thr1810Ser) | dbSNP |
16 | g.3729613T>C | CA394556417 | CREBBP | c.5434A>G (p.Thr1812Ala) c.5320A>G (p.Thr1774Ala) c.5389A>G (p.Thr1797Ala) c.5017A>G (p.Thr1673Ala) c.5173A>G (p.Thr1725Ala) c.5380A>G (p.Thr1794Ala) c.4681A>G (p.Thr1561Ala) c.5428A>G (p.Thr1810Ala) | dbSNP |
16 | g.3729613T>G | CA394556418 | CREBBP | c.5434A>C (p.Thr1812Pro) c.5320A>C (p.Thr1774Pro) c.5389A>C (p.Thr1797Pro) c.5017A>C (p.Thr1673Pro) c.5173A>C (p.Thr1725Pro) c.5380A>C (p.Thr1794Pro) c.4681A>C (p.Thr1561Pro) c.5428A>C (p.Thr1810Pro) | dbSNP |
16 | g.3729614C>A | CA394556420 | CREBBP | c.5433G>T (p.Lys1811Asn) c.5319G>T (p.Lys1773Asn) c.5388G>T (p.Lys1796Asn) c.5016G>T (p.Lys1672Asn) c.5172G>T (p.Lys1724Asn) c.5379G>T (p.Lys1793Asn) c.4680G>T (p.Lys1560Asn) c.5427G>T (p.Lys1809Asn) | dbSNP |
16 | g.3729614C>G | CA394556422 | CREBBP | c.5433G>C (p.Lys1811Asn) c.5319G>C (p.Lys1773Asn) c.5388G>C (p.Lys1796Asn) c.5016G>C (p.Lys1672Asn) c.5172G>C (p.Lys1724Asn) c.5379G>C (p.Lys1793Asn) c.4680G>C (p.Lys1560Asn) c.5427G>C (p.Lys1809Asn) | dbSNP |
16 | g.3729614C>T | CA493394373 | CREBBP | c.5433G>A (p.Lys1811=) c.5319G>A (p.Lys1773=) c.5388G>A (p.Lys1796=) c.5016G>A (p.Lys1672=) c.5172G>A (p.Lys1724=) c.5379G>A (p.Lys1793=) c.4680G>A (p.Lys1560=) c.5427G>A (p.Lys1809=) | dbSNP COSMIC |
16 | g.3729614_3729686delinsCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCG | CA2202916470 | CREBBP | c.5361_5433delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1787=) c.5247_5319delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1749=) c.5316_5388delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1772=) c.4944_5016delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1648=) c.5100_5172delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1700=) c.5307_5379delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1769=) c.4608_4680delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1536=) c.5355_5427delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1785=) | |
16 | g.3729615T>A | CA394556425 | CREBBP | c.5432A>T (p.Lys1811Met) c.5318A>T (p.Lys1773Met) c.5387A>T (p.Lys1796Met) c.5015A>T (p.Lys1672Met) c.5171A>T (p.Lys1724Met) c.5378A>T (p.Lys1793Met) c.4679A>T (p.Lys1560Met) c.5426A>T (p.Lys1809Met) | dbSNP |
16 | g.3729615T>C | CA394556427 | CREBBP | c.5432A>G (p.Lys1811Arg) c.5318A>G (p.Lys1773Arg) c.5387A>G (p.Lys1796Arg) c.5015A>G (p.Lys1672Arg) c.5171A>G (p.Lys1724Arg) c.5378A>G (p.Lys1793Arg) c.4679A>G (p.Lys1560Arg) c.5426A>G (p.Lys1809Arg) | dbSNP |
16 | g.3729615T>G | CA394556428 | CREBBP | c.5432A>C (p.Lys1811Thr) c.5318A>C (p.Lys1773Thr) c.5387A>C (p.Lys1796Thr) c.5015A>C (p.Lys1672Thr) c.5171A>C (p.Lys1724Thr) c.5378A>C (p.Lys1793Thr) c.4679A>C (p.Lys1560Thr) c.5426A>C (p.Lys1809Thr) | |
16 | g.3729620_3729691del | CA658658387 | CREBBP | c.5361_5432del (p.Asn1787_Arg1810del) c.5247_5318del (p.Asn1749_Arg1772del) c.5316_5387del (p.Asn1772_Arg1795del) c.4944_5015del (p.Asn1648_Arg1671del) c.5100_5171del (p.Asn1700_Arg1723del) c.5307_5378del (p.Asn1769_Arg1792del) c.4608_4679del (p.Asn1536_Arg1559del) c.5355_5426del (p.Asn1785_Arg1808del) | ClinVar dbSNP |
16 | g.3729616T>A | CA394556430 | CREBBP | c.5431A>T (p.Lys1811Ter) c.5317A>T (p.Lys1773Ter) c.5386A>T (p.Lys1796Ter) c.5014A>T (p.Lys1672Ter) c.5170A>T (p.Lys1724Ter) c.5377A>T (p.Lys1793Ter) c.4678A>T (p.Lys1560Ter) c.5425A>T (p.Lys1809Ter) | |
16 | g.3729616T>C | CA394556431 | CREBBP | c.5431A>G (p.Lys1811Glu) c.5317A>G (p.Lys1773Glu) c.5386A>G (p.Lys1796Glu) c.5014A>G (p.Lys1672Glu) c.5170A>G (p.Lys1724Glu) c.5377A>G (p.Lys1793Glu) c.4678A>G (p.Lys1560Glu) c.5425A>G (p.Lys1809Glu) | dbSNP |
16 | g.3729616T>G | CA394556433 | CREBBP | c.5431A>C (p.Lys1811Gln) c.5317A>C (p.Lys1773Gln) c.5386A>C (p.Lys1796Gln) c.5014A>C (p.Lys1672Gln) c.5170A>C (p.Lys1724Gln) c.5377A>C (p.Lys1793Gln) c.4678A>C (p.Lys1560Gln) c.5425A>C (p.Lys1809Gln) | |
16 | g.3729617G>A | CA493394374 | CREBBP | c.5430C>T (p.Arg1810=) c.5316C>T (p.Arg1772=) c.5385C>T (p.Arg1795=) c.5013C>T (p.Arg1671=) c.5169C>T (p.Arg1723=) c.5376C>T (p.Arg1792=) c.4677C>T (p.Arg1559=) c.5424C>T (p.Arg1808=) | dbSNP |
16 | g.3729617G>C | CA493394375 | CREBBP | c.5430C>G (p.Arg1810=) c.5316C>G (p.Arg1772=) c.5385C>G (p.Arg1795=) c.5013C>G (p.Arg1671=) c.5169C>G (p.Arg1723=) c.5376C>G (p.Arg1792=) c.4677C>G (p.Arg1559=) c.5424C>G (p.Arg1808=) | dbSNP |
16 | g.3729617G>T | CA493394376 | CREBBP | c.5430C>A (p.Arg1810=) c.5316C>A (p.Arg1772=) c.5385C>A (p.Arg1795=) c.5013C>A (p.Arg1671=) c.5169C>A (p.Arg1723=) c.5376C>A (p.Arg1792=) c.4677C>A (p.Arg1559=) c.5424C>A (p.Arg1808=) | |
16 | g.3729618C>A | CA394556435 | CREBBP | c.5429G>T (p.Arg1810Leu) c.5315G>T (p.Arg1772Leu) c.5384G>T (p.Arg1795Leu) c.5012G>T (p.Arg1671Leu) c.5168G>T (p.Arg1723Leu) c.5375G>T (p.Arg1792Leu) c.4676G>T (p.Arg1559Leu) c.5423G>T (p.Arg1808Leu) | |
16 | g.3729618C>G | CA394556439 | CREBBP | c.5429G>C (p.Arg1810Pro) c.5315G>C (p.Arg1772Pro) c.5384G>C (p.Arg1795Pro) c.5012G>C (p.Arg1671Pro) c.5168G>C (p.Arg1723Pro) c.5375G>C (p.Arg1792Pro) c.4676G>C (p.Arg1559Pro) c.5423G>C (p.Arg1808Pro) | dbSNP |
16 | g.3729618C>T | CA394556437 | CREBBP | c.5429G>A (p.Arg1810His) c.5315G>A (p.Arg1772His) c.5384G>A (p.Arg1795His) c.5012G>A (p.Arg1671His) c.5168G>A (p.Arg1723His) c.5375G>A (p.Arg1792His) c.4676G>A (p.Arg1559His) c.5423G>A (p.Arg1808His) | dbSNP |
16 | g.3729619G>A | CA394556441 | CREBBP | c.5428C>T (p.Arg1810Cys) c.5314C>T (p.Arg1772Cys) c.5383C>T (p.Arg1795Cys) c.5011C>T (p.Arg1671Cys) c.5167C>T (p.Arg1723Cys) c.5374C>T (p.Arg1792Cys) c.4675C>T (p.Arg1559Cys) c.5422C>T (p.Arg1808Cys) | dbSNP |
16 | g.3729619G>C | CA394556444 | CREBBP | c.5428C>G (p.Arg1810Gly) c.5314C>G (p.Arg1772Gly) c.5383C>G (p.Arg1795Gly) c.5011C>G (p.Arg1671Gly) c.5167C>G (p.Arg1723Gly) c.5374C>G (p.Arg1792Gly) c.4675C>G (p.Arg1559Gly) c.5422C>G (p.Arg1808Gly) | dbSNP |
16 | g.3729619G= | CA2202916471 | CREBBP | c.5428C= (p.Arg1810=) c.5314C= (p.Arg1772=) c.5383C= (p.Arg1795=) c.5011C= (p.Arg1671=) c.5167C= (p.Arg1723=) c.5374C= (p.Arg1792=) c.4675C= (p.Arg1559=) c.5422C= (p.Arg1808=) | |
16 | g.3729619G>T | CA394556443 | CREBBP | c.5428C>A (p.Arg1810Ser) c.5314C>A (p.Arg1772Ser) c.5383C>A (p.Arg1795Ser) c.5011C>A (p.Arg1671Ser) c.5167C>A (p.Arg1723Ser) c.5374C>A (p.Arg1792Ser) c.4675C>A (p.Arg1559Ser) c.5422C>A (p.Arg1808Ser) | |
16 | g.3729620T>A | CA394556445 | CREBBP | c.5427A>T (p.Lys1809Asn) c.5313A>T (p.Lys1771Asn) c.5382A>T (p.Lys1794Asn) c.5010A>T (p.Lys1670Asn) c.5166A>T (p.Lys1722Asn) c.5373A>T (p.Lys1791Asn) c.4674A>T (p.Lys1558Asn) c.5421A>T (p.Lys1807Asn) | dbSNP |
16 | g.3729620T>C | CA493394377 | CREBBP | c.5427A>G (p.Lys1809=) c.5313A>G (p.Lys1771=) c.5382A>G (p.Lys1794=) c.5010A>G (p.Lys1670=) c.5166A>G (p.Lys1722=) c.5373A>G (p.Lys1791=) c.4674A>G (p.Lys1558=) c.5421A>G (p.Lys1807=) | dbSNP |
16 | g.3729620T>G | CA394556446 | CREBBP | c.5427A>C (p.Lys1809Asn) c.5313A>C (p.Lys1771Asn) c.5382A>C (p.Lys1794Asn) c.5010A>C (p.Lys1670Asn) c.5166A>C (p.Lys1722Asn) c.5373A>C (p.Lys1791Asn) c.4674A>C (p.Lys1558Asn) c.5421A>C (p.Lys1807Asn) | dbSNP |
16 | g.3729622del | CA2731851214 | CREBBP | c.5427del (p.Lys1809AsnfsTer?) c.5313del (p.Lys1771AsnfsTer?) c.5382del (p.Lys1794AsnfsTer?) c.5010del (p.Lys1670AsnfsTer?) c.5166del (p.Lys1722AsnfsTer?) c.5373del (p.Lys1791AsnfsTer?) c.4674del (p.Lys1558AsnfsTer?) c.5421del (p.Lys1807AsnfsTer?) | dbSNP |
16 | g.3729621T>A | CA394556447 | CREBBP | c.5426A>T (p.Lys1809Ile) c.5312A>T (p.Lys1771Ile) c.5381A>T (p.Lys1794Ile) c.5009A>T (p.Lys1670Ile) c.5165A>T (p.Lys1722Ile) c.5372A>T (p.Lys1791Ile) c.4673A>T (p.Lys1558Ile) c.5420A>T (p.Lys1807Ile) | dbSNP |
16 | g.3729621T>C | CA394556448 | CREBBP | c.5426A>G (p.Lys1809Arg) c.5312A>G (p.Lys1771Arg) c.5381A>G (p.Lys1794Arg) c.5009A>G (p.Lys1670Arg) c.5165A>G (p.Lys1722Arg) c.5372A>G (p.Lys1791Arg) c.4673A>G (p.Lys1558Arg) c.5420A>G (p.Lys1807Arg) | dbSNP |
16 | g.3729621T>G | CA394556449 | CREBBP | c.5426A>C (p.Lys1809Thr) c.5312A>C (p.Lys1771Thr) c.5381A>C (p.Lys1794Thr) c.5009A>C (p.Lys1670Thr) c.5165A>C (p.Lys1722Thr) c.5372A>C (p.Lys1791Thr) c.4673A>C (p.Lys1558Thr) c.5420A>C (p.Lys1807Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729621T= | CA2202916472 | CREBBP | c.5426A= (p.Lys1809=) c.5312A= (p.Lys1771=) c.5381A= (p.Lys1794=) c.5009A= (p.Lys1670=) c.5165A= (p.Lys1722=) c.5372A= (p.Lys1791=) c.4673A= (p.Lys1558=) c.5420A= (p.Lys1807=) | |
16 | g.3729622T>A | CA394556450 | CREBBP | c.5425A>T (p.Lys1809Ter) c.5311A>T (p.Lys1771Ter) c.5380A>T (p.Lys1794Ter) c.5008A>T (p.Lys1670Ter) c.5164A>T (p.Lys1722Ter) c.5371A>T (p.Lys1791Ter) c.4672A>T (p.Lys1558Ter) c.5419A>T (p.Lys1807Ter) | dbSNP |
16 | g.3729622T>C | CA394556451 | CREBBP | c.5425A>G (p.Lys1809Glu) c.5311A>G (p.Lys1771Glu) c.5380A>G (p.Lys1794Glu) c.5008A>G (p.Lys1670Glu) c.5164A>G (p.Lys1722Glu) c.5371A>G (p.Lys1791Glu) c.4672A>G (p.Lys1558Glu) c.5419A>G (p.Lys1807Glu) | dbSNP |
16 | g.3729622T>G | CA394556452 | CREBBP | c.5425A>C (p.Lys1809Gln) c.5311A>C (p.Lys1771Gln) c.5380A>C (p.Lys1794Gln) c.5008A>C (p.Lys1670Gln) c.5164A>C (p.Lys1722Gln) c.5371A>C (p.Lys1791Gln) c.4672A>C (p.Lys1558Gln) c.5419A>C (p.Lys1807Gln) | |
16 | g.3729623G>A | CA493394378 | CREBBP | c.5424C>T (p.Cys1808=) c.5310C>T (p.Cys1770=) c.5379C>T (p.Cys1793=) c.5007C>T (p.Cys1669=) c.5163C>T (p.Cys1721=) c.5370C>T (p.Cys1790=) c.4671C>T (p.Cys1557=) c.5418C>T (p.Cys1806=) | |
16 | g.3729623G>C | CA394556454 | CREBBP | c.5424C>G (p.Cys1808Trp) c.5310C>G (p.Cys1770Trp) c.5379C>G (p.Cys1793Trp) c.5007C>G (p.Cys1669Trp) c.5163C>G (p.Cys1721Trp) c.5370C>G (p.Cys1790Trp) c.4671C>G (p.Cys1557Trp) c.5418C>G (p.Cys1806Trp) | |
16 | g.3729623G>T | CA394556455 | CREBBP | c.5424C>A (p.Cys1808Ter) c.5310C>A (p.Cys1770Ter) c.5379C>A (p.Cys1793Ter) c.5007C>A (p.Cys1669Ter) c.5163C>A (p.Cys1721Ter) c.5370C>A (p.Cys1790Ter) c.4671C>A (p.Cys1557Ter) c.5418C>A (p.Cys1806Ter) | gnomAD v4 COSMIC |
16 | g.3729624C>A | CA394556457 | CREBBP | c.5423G>T (p.Cys1808Phe) c.5309G>T (p.Cys1770Phe) c.5378G>T (p.Cys1793Phe) c.5006G>T (p.Cys1669Phe) c.5162G>T (p.Cys1721Phe) c.5369G>T (p.Cys1790Phe) c.4670G>T (p.Cys1557Phe) c.5417G>T (p.Cys1806Phe) | dbSNP |
16 | g.3729624C>G | CA394556458 | CREBBP | c.5423G>C (p.Cys1808Ser) c.5309G>C (p.Cys1770Ser) c.5378G>C (p.Cys1793Ser) c.5006G>C (p.Cys1669Ser) c.5162G>C (p.Cys1721Ser) c.5369G>C (p.Cys1790Ser) c.4670G>C (p.Cys1557Ser) c.5417G>C (p.Cys1806Ser) | |
16 | g.3729624C>T | CA394556459 | CREBBP | c.5423G>A (p.Cys1808Tyr) c.5309G>A (p.Cys1770Tyr) c.5378G>A (p.Cys1793Tyr) c.5006G>A (p.Cys1669Tyr) c.5162G>A (p.Cys1721Tyr) c.5369G>A (p.Cys1790Tyr) c.4670G>A (p.Cys1557Tyr) c.5417G>A (p.Cys1806Tyr) | |
16 | g.3729625A>C | CA394556465 | CREBBP | c.5422T>G (p.Cys1808Gly) c.5308T>G (p.Cys1770Gly) c.5377T>G (p.Cys1793Gly) c.5005T>G (p.Cys1669Gly) c.5161T>G (p.Cys1721Gly) c.5368T>G (p.Cys1790Gly) c.4669T>G (p.Cys1557Gly) c.5416T>G (p.Cys1806Gly) | dbSNP |
16 | g.3729625A>G | CA394556463 | CREBBP | c.5422T>C (p.Cys1808Arg) c.5308T>C (p.Cys1770Arg) c.5377T>C (p.Cys1793Arg) c.5005T>C (p.Cys1669Arg) c.5161T>C (p.Cys1721Arg) c.5368T>C (p.Cys1790Arg) c.4669T>C (p.Cys1557Arg) c.5416T>C (p.Cys1806Arg) | dbSNP |
16 | g.3729625A>T | CA394556461 | CREBBP | c.5422T>A (p.Cys1808Ser) c.5308T>A (p.Cys1770Ser) c.5377T>A (p.Cys1793Ser) c.5005T>A (p.Cys1669Ser) c.5161T>A (p.Cys1721Ser) c.5368T>A (p.Cys1790Ser) c.4669T>A (p.Cys1557Ser) c.5416T>A (p.Cys1806Ser) | dbSNP |
16 | g.3729626G>A | CA493394379 | CREBBP | c.5421C>T (p.Gly1807=) c.5307C>T (p.Gly1769=) c.5376C>T (p.Gly1792=) c.5004C>T (p.Gly1668=) c.5160C>T (p.Gly1720=) c.5367C>T (p.Gly1789=) c.4668C>T (p.Gly1556=) c.5415C>T (p.Gly1805=) | dbSNP gnomAD v4 |
16 | g.3729626G>C | CA493394380 | CREBBP | c.5421C>G (p.Gly1807=) c.5307C>G (p.Gly1769=) c.5376C>G (p.Gly1792=) c.5004C>G (p.Gly1668=) c.5160C>G (p.Gly1720=) c.5367C>G (p.Gly1789=) c.4668C>G (p.Gly1556=) c.5415C>G (p.Gly1805=) | dbSNP |
16 | g.3729626G>T | CA493394381 | CREBBP | c.5421C>A (p.Gly1807=) c.5307C>A (p.Gly1769=) c.5376C>A (p.Gly1792=) c.5004C>A (p.Gly1668=) c.5160C>A (p.Gly1720=) c.5367C>A (p.Gly1789=) c.4668C>A (p.Gly1556=) c.5415C>A (p.Gly1805=) | dbSNP |
16 | g.3729627C>A | CA394556468 | CREBBP | c.5420G>T (p.Gly1807Val) c.5306G>T (p.Gly1769Val) c.5375G>T (p.Gly1792Val) c.5003G>T (p.Gly1668Val) c.5159G>T (p.Gly1720Val) c.5366G>T (p.Gly1789Val) c.4667G>T (p.Gly1556Val) c.5414G>T (p.Gly1805Val) | |
16 | g.3729627C>G | CA394556470 | CREBBP | c.5420G>C (p.Gly1807Ala) c.5306G>C (p.Gly1769Ala) c.5375G>C (p.Gly1792Ala) c.5003G>C (p.Gly1668Ala) c.5159G>C (p.Gly1720Ala) c.5366G>C (p.Gly1789Ala) c.4667G>C (p.Gly1556Ala) c.5414G>C (p.Gly1805Ala) | |
16 | g.3729627C>T | CA394556472 | CREBBP | c.5420G>A (p.Gly1807Asp) c.5306G>A (p.Gly1769Asp) c.5375G>A (p.Gly1792Asp) c.5003G>A (p.Gly1668Asp) c.5159G>A (p.Gly1720Asp) c.5366G>A (p.Gly1789Asp) c.4667G>A (p.Gly1556Asp) c.5414G>A (p.Gly1805Asp) | |
16 | g.3729628C>A | CA394556473 | CREBBP | c.5419G>T (p.Gly1807Cys) c.5305G>T (p.Gly1769Cys) c.5374G>T (p.Gly1792Cys) c.5002G>T (p.Gly1668Cys) c.5158G>T (p.Gly1720Cys) c.5365G>T (p.Gly1789Cys) c.4666G>T (p.Gly1556Cys) c.5413G>T (p.Gly1805Cys) | dbSNP |
16 | g.3729628C>G | CA394556475 | CREBBP | c.5419G>C (p.Gly1807Arg) c.5305G>C (p.Gly1769Arg) c.5374G>C (p.Gly1792Arg) c.5002G>C (p.Gly1668Arg) c.5158G>C (p.Gly1720Arg) c.5365G>C (p.Gly1789Arg) c.4666G>C (p.Gly1556Arg) c.5413G>C (p.Gly1805Arg) | dbSNP |
16 | g.3729628C>T | CA394556477 | CREBBP | c.5419G>A (p.Gly1807Ser) c.5305G>A (p.Gly1769Ser) c.5374G>A (p.Gly1792Ser) c.5002G>A (p.Gly1668Ser) c.5158G>A (p.Gly1720Ser) c.5365G>A (p.Gly1789Ser) c.4666G>A (p.Gly1556Ser) c.5413G>A (p.Gly1805Ser) | dbSNP |
16 | g.3729629C>A | CA394556479 | CREBBP | c.5418G>T (p.Lys1806Asn) c.5304G>T (p.Lys1768Asn) c.5373G>T (p.Lys1791Asn) c.5001G>T (p.Lys1667Asn) c.5157G>T (p.Lys1719Asn) c.5364G>T (p.Lys1788Asn) c.4665G>T (p.Lys1555Asn) c.5412G>T (p.Lys1804Asn) | |
16 | g.3729629C= | CA2202916473 | CREBBP | c.5418G= (p.Lys1806=) c.5304G= (p.Lys1768=) c.5373G= (p.Lys1791=) c.5001G= (p.Lys1667=) c.5157G= (p.Lys1719=) c.5364G= (p.Lys1788=) c.4665G= (p.Lys1555=) c.5412G= (p.Lys1804=) | |
16 | g.3729629C>G | CA394556481 | CREBBP | c.5418G>C (p.Lys1806Asn) c.5304G>C (p.Lys1768Asn) c.5373G>C (p.Lys1791Asn) c.5001G>C (p.Lys1667Asn) c.5157G>C (p.Lys1719Asn) c.5364G>C (p.Lys1788Asn) c.4665G>C (p.Lys1555Asn) c.5412G>C (p.Lys1804Asn) | COSMIC |
16 | g.3729629C>T | CA276972251 | CREBBP | c.5418G>A (p.Lys1806=) c.5304G>A (p.Lys1768=) c.5373G>A (p.Lys1791=) c.5001G>A (p.Lys1667=) c.5157G>A (p.Lys1719=) c.5364G>A (p.Lys1788=) c.4665G>A (p.Lys1555=) c.5412G>A (p.Lys1804=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729630T>A | CA394556484 | CREBBP | c.5417A>T (p.Lys1806Met) c.5303A>T (p.Lys1768Met) c.5372A>T (p.Lys1791Met) c.5000A>T (p.Lys1667Met) c.5156A>T (p.Lys1719Met) c.5363A>T (p.Lys1788Met) c.4664A>T (p.Lys1555Met) c.5411A>T (p.Lys1804Met) | dbSNP |
16 | g.3729630T>C | CA394556486 | CREBBP | c.5417A>G (p.Lys1806Arg) c.5303A>G (p.Lys1768Arg) c.5372A>G (p.Lys1791Arg) c.5000A>G (p.Lys1667Arg) c.5156A>G (p.Lys1719Arg) c.5363A>G (p.Lys1788Arg) c.4664A>G (p.Lys1555Arg) c.5411A>G (p.Lys1804Arg) | dbSNP gnomAD v4 |
16 | g.3729630T>G | CA394556488 | CREBBP | c.5417A>C (p.Lys1806Thr) c.5303A>C (p.Lys1768Thr) c.5372A>C (p.Lys1791Thr) c.5000A>C (p.Lys1667Thr) c.5156A>C (p.Lys1719Thr) c.5363A>C (p.Lys1788Thr) c.4664A>C (p.Lys1555Thr) c.5411A>C (p.Lys1804Thr) | |
16 | g.3729631T>A | CA394556494 | CREBBP | c.5416A>T (p.Lys1806Ter) c.5302A>T (p.Lys1768Ter) c.5371A>T (p.Lys1791Ter) c.4999A>T (p.Lys1667Ter) c.5155A>T (p.Lys1719Ter) c.5362A>T (p.Lys1788Ter) c.4663A>T (p.Lys1555Ter) c.5410A>T (p.Lys1804Ter) | |
16 | g.3729631T>C | CA394556492 | CREBBP | c.5416A>G (p.Lys1806Glu) c.5302A>G (p.Lys1768Glu) c.5371A>G (p.Lys1791Glu) c.4999A>G (p.Lys1667Glu) c.5155A>G (p.Lys1719Glu) c.5362A>G (p.Lys1788Glu) c.4663A>G (p.Lys1555Glu) c.5410A>G (p.Lys1804Glu) | |
16 | g.3729631T>G | CA394556490 | CREBBP | c.5416A>C (p.Lys1806Gln) c.5302A>C (p.Lys1768Gln) c.5371A>C (p.Lys1791Gln) c.4999A>C (p.Lys1667Gln) c.5155A>C (p.Lys1719Gln) c.5362A>C (p.Lys1788Gln) c.4663A>C (p.Lys1555Gln) c.5410A>C (p.Lys1804Gln) | |
16 | g.3729632G>A | CA493394384 | CREBBP | c.5415C>T (p.Thr1805=) c.5301C>T (p.Thr1767=) c.5370C>T (p.Thr1790=) c.4998C>T (p.Thr1666=) c.5154C>T (p.Thr1718=) c.5361C>T (p.Thr1787=) c.4662C>T (p.Thr1554=) c.5409C>T (p.Thr1803=) | ClinVar dbSNP |
16 | g.3729632G>C | CA493394383 | CREBBP | c.5415C>G (p.Thr1805=) c.5301C>G (p.Thr1767=) c.5370C>G (p.Thr1790=) c.4998C>G (p.Thr1666=) c.5154C>G (p.Thr1718=) c.5361C>G (p.Thr1787=) c.4662C>G (p.Thr1554=) c.5409C>G (p.Thr1803=) | dbSNP |
16 | g.3729632G>T | CA493394382 | CREBBP | c.5415C>A (p.Thr1805=) c.5301C>A (p.Thr1767=) c.5370C>A (p.Thr1790=) c.4998C>A (p.Thr1666=) c.5154C>A (p.Thr1718=) c.5361C>A (p.Thr1787=) c.4662C>A (p.Thr1554=) c.5409C>A (p.Thr1803=) | dbSNP gnomAD v4 |
16 | g.3729633G>A | CA394556497 | CREBBP | c.5414C>T (p.Thr1805Ile) c.5300C>T (p.Thr1767Ile) c.5369C>T (p.Thr1790Ile) c.4997C>T (p.Thr1666Ile) c.5153C>T (p.Thr1718Ile) c.5360C>T (p.Thr1787Ile) c.4661C>T (p.Thr1554Ile) c.5408C>T (p.Thr1803Ile) | dbSNP |
16 | g.3729633G>C | CA394556498 | CREBBP | c.5414C>G (p.Thr1805Ser) c.5300C>G (p.Thr1767Ser) c.5369C>G (p.Thr1790Ser) c.4997C>G (p.Thr1666Ser) c.5153C>G (p.Thr1718Ser) c.5360C>G (p.Thr1787Ser) c.4661C>G (p.Thr1554Ser) c.5408C>G (p.Thr1803Ser) | dbSNP gnomAD v4 |
16 | g.3729633G>T | CA394556500 | CREBBP | c.5414C>A (p.Thr1805Asn) c.5300C>A (p.Thr1767Asn) c.5369C>A (p.Thr1790Asn) c.4997C>A (p.Thr1666Asn) c.5153C>A (p.Thr1718Asn) c.5360C>A (p.Thr1787Asn) c.4661C>A (p.Thr1554Asn) c.5408C>A (p.Thr1803Asn) | |
16 | g.3729634T>A | CA394556504 | CREBBP | c.5413A>T (p.Thr1805Ser) c.5299A>T (p.Thr1767Ser) c.5368A>T (p.Thr1790Ser) c.4996A>T (p.Thr1666Ser) c.5152A>T (p.Thr1718Ser) c.5359A>T (p.Thr1787Ser) c.4660A>T (p.Thr1554Ser) c.5407A>T (p.Thr1803Ser) | dbSNP |
16 | g.3729634T>C | CA394556505 | CREBBP | c.5413A>G (p.Thr1805Ala) c.5299A>G (p.Thr1767Ala) c.5368A>G (p.Thr1790Ala) c.4996A>G (p.Thr1666Ala) c.5152A>G (p.Thr1718Ala) c.5359A>G (p.Thr1787Ala) c.4660A>G (p.Thr1554Ala) c.5407A>G (p.Thr1803Ala) | |
16 | g.3729634T>G | CA394556507 | CREBBP | c.5413A>C (p.Thr1805Pro) c.5299A>C (p.Thr1767Pro) c.5368A>C (p.Thr1790Pro) c.4996A>C (p.Thr1666Pro) c.5152A>C (p.Thr1718Pro) c.5359A>C (p.Thr1787Pro) c.4660A>C (p.Thr1554Pro) c.5407A>C (p.Thr1803Pro) | dbSNP |
16 | g.3729635G>A | CA493394385 | CREBBP | c.5412C>T (p.His1804=) c.5298C>T (p.His1766=) c.5367C>T (p.His1789=) c.4995C>T (p.His1665=) c.5151C>T (p.His1717=) c.5358C>T (p.His1786=) c.4659C>T (p.His1553=) c.5406C>T (p.His1802=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729635G>C | CA394556509 | CREBBP | c.5412C>G (p.His1804Gln) c.5298C>G (p.His1766Gln) c.5367C>G (p.His1789Gln) c.4995C>G (p.His1665Gln) c.5151C>G (p.His1717Gln) c.5358C>G (p.His1786Gln) c.4659C>G (p.His1553Gln) c.5406C>G (p.His1802Gln) | |
16 | g.3729635G= | CA2202916474 | CREBBP | c.5412C= (p.His1804=) c.5298C= (p.His1766=) c.5367C= (p.His1789=) c.4995C= (p.His1665=) c.5151C= (p.His1717=) c.5358C= (p.His1786=) c.4659C= (p.His1553=) c.5406C= (p.His1802=) | |
16 | g.3729635G>T | CA277274 | CREBBP | c.5412C>A (p.His1804Gln) c.5298C>A (p.His1766Gln) c.5367C>A (p.His1789Gln) c.4995C>A (p.His1665Gln) c.5151C>A (p.His1717Gln) c.5358C>A (p.His1786Gln) c.4659C>A (p.His1553Gln) c.5406C>A (p.His1802Gln) | ClinVar dbSNP |
16 | g.3729636T>A | CA394556510 | CREBBP | c.5411A>T (p.His1804Leu) c.5297A>T (p.His1766Leu) c.5366A>T (p.His1789Leu) c.4994A>T (p.His1665Leu) c.5150A>T (p.His1717Leu) c.5357A>T (p.His1786Leu) c.4658A>T (p.His1553Leu) c.5405A>T (p.His1802Leu) | dbSNP |
16 | g.3729636T>C | CA394556511 | CREBBP | c.5411A>G (p.His1804Arg) c.5297A>G (p.His1766Arg) c.5366A>G (p.His1789Arg) c.4994A>G (p.His1665Arg) c.5150A>G (p.His1717Arg) c.5357A>G (p.His1786Arg) c.4658A>G (p.His1553Arg) c.5405A>G (p.His1802Arg) | dbSNP |
16 | g.3729636T>G | CA394556512 | CREBBP | c.5411A>C (p.His1804Pro) c.5297A>C (p.His1766Pro) c.5366A>C (p.His1789Pro) c.4994A>C (p.His1665Pro) c.5150A>C (p.His1717Pro) c.5357A>C (p.His1786Pro) c.4658A>C (p.His1553Pro) c.5405A>C (p.His1802Pro) | dbSNP |
16 | g.3729637G>A | CA394556518 | CREBBP | c.5410C>T (p.His1804Tyr) c.5296C>T (p.His1766Tyr) c.5365C>T (p.His1789Tyr) c.4993C>T (p.His1665Tyr) c.5149C>T (p.His1717Tyr) c.5356C>T (p.His1786Tyr) c.4657C>T (p.His1553Tyr) c.5404C>T (p.His1802Tyr) | dbSNP COSMIC |
16 | g.3729637G>C | CA394556516 | CREBBP | c.5410C>G (p.His1804Asp) c.5296C>G (p.His1766Asp) c.5365C>G (p.His1789Asp) c.4993C>G (p.His1665Asp) c.5149C>G (p.His1717Asp) c.5356C>G (p.His1786Asp) c.4657C>G (p.His1553Asp) c.5404C>G (p.His1802Asp) | dbSNP |
16 | g.3729637G>T | CA394556514 | CREBBP | c.5410C>A (p.His1804Asn) c.5296C>A (p.His1766Asn) c.5365C>A (p.His1789Asn) c.4993C>A (p.His1665Asn) c.5149C>A (p.His1717Asn) c.5356C>A (p.His1786Asn) c.4657C>A (p.His1553Asn) c.5404C>A (p.His1802Asn) | dbSNP |
16 | g.3729638C>A | CA394556520 | CREBBP | c.5409G>T (p.Gln1803His) c.5295G>T (p.Gln1765His) c.5364G>T (p.Gln1788His) c.4992G>T (p.Gln1664His) c.5148G>T (p.Gln1716His) c.5355G>T (p.Gln1785His) c.4656G>T (p.Gln1552His) c.5403G>T (p.Gln1801His) | |
16 | g.3729638C>G | CA394556522 | CREBBP | c.5409G>C (p.Gln1803His) c.5295G>C (p.Gln1765His) c.5364G>C (p.Gln1788His) c.4992G>C (p.Gln1664His) c.5148G>C (p.Gln1716His) c.5355G>C (p.Gln1785His) c.4656G>C (p.Gln1552His) c.5403G>C (p.Gln1801His) | |
16 | g.3729638C>T | CA493394386 | CREBBP | c.5409G>A (p.Gln1803=) c.5295G>A (p.Gln1765=) c.5364G>A (p.Gln1788=) c.4992G>A (p.Gln1664=) c.5148G>A (p.Gln1716=) c.5355G>A (p.Gln1785=) c.4656G>A (p.Gln1552=) c.5403G>A (p.Gln1801=) | |
16 | g.3729639T>A | CA394556524 | CREBBP | c.5408A>T (p.Gln1803Leu) c.5294A>T (p.Gln1765Leu) c.5363A>T (p.Gln1788Leu) c.4991A>T (p.Gln1664Leu) c.5147A>T (p.Gln1716Leu) c.5354A>T (p.Gln1785Leu) c.4655A>T (p.Gln1552Leu) c.5402A>T (p.Gln1801Leu) | dbSNP |
16 | g.3729639T>C | CA394556525 | CREBBP | c.5408A>G (p.Gln1803Arg) c.5294A>G (p.Gln1765Arg) c.5363A>G (p.Gln1788Arg) c.4991A>G (p.Gln1664Arg) c.5147A>G (p.Gln1716Arg) c.5354A>G (p.Gln1785Arg) c.4655A>G (p.Gln1552Arg) c.5402A>G (p.Gln1801Arg) | dbSNP COSMIC |
16 | g.3729639T>G | CA394556527 | CREBBP | c.5408A>C (p.Gln1803Pro) c.5294A>C (p.Gln1765Pro) c.5363A>C (p.Gln1788Pro) c.4991A>C (p.Gln1664Pro) c.5147A>C (p.Gln1716Pro) c.5354A>C (p.Gln1785Pro) c.4655A>C (p.Gln1552Pro) c.5402A>C (p.Gln1801Pro) | dbSNP |
16 | g.3729640G>A | CA394556529 | CREBBP | c.5407C>T (p.Gln1803Ter) c.5293C>T (p.Gln1765Ter) c.5362C>T (p.Gln1788Ter) c.4990C>T (p.Gln1664Ter) c.5146C>T (p.Gln1716Ter) c.5353C>T (p.Gln1785Ter) c.4654C>T (p.Gln1552Ter) c.5401C>T (p.Gln1801Ter) | |
16 | g.3729640G>C | CA394556531 | CREBBP | c.5407C>G (p.Gln1803Glu) c.5293C>G (p.Gln1765Glu) c.5362C>G (p.Gln1788Glu) c.4990C>G (p.Gln1664Glu) c.5146C>G (p.Gln1716Glu) c.5353C>G (p.Gln1785Glu) c.4654C>G (p.Gln1552Glu) c.5401C>G (p.Gln1801Glu) | |
16 | g.3729640G>T | CA394556533 | CREBBP | c.5407C>A (p.Gln1803Lys) c.5293C>A (p.Gln1765Lys) c.5362C>A (p.Gln1788Lys) c.4990C>A (p.Gln1664Lys) c.5146C>A (p.Gln1716Lys) c.5353C>A (p.Gln1785Lys) c.4654C>A (p.Gln1552Lys) c.5401C>A (p.Gln1801Lys) | |
16 | g.3729641C>A | CA493394387 | CREBBP | c.5406G>T (p.Val1802=) c.5292G>T (p.Val1764=) c.5361G>T (p.Val1787=) c.4989G>T (p.Val1663=) c.5145G>T (p.Val1715=) c.5352G>T (p.Val1784=) c.4653G>T (p.Val1551=) c.5400G>T (p.Val1800=) | dbSNP gnomAD v4 |
16 | g.3729641C= | CA2202916475 | CREBBP | c.5406G= (p.Val1802=) c.5292G= (p.Val1764=) c.5361G= (p.Val1787=) c.4989G= (p.Val1663=) c.5145G= (p.Val1715=) c.5352G= (p.Val1784=) c.4653G= (p.Val1551=) c.5400G= (p.Val1800=) | |
16 | g.3729641C>G | CA493394388 | CREBBP | c.5406G>C (p.Val1802=) c.5292G>C (p.Val1764=) c.5361G>C (p.Val1787=) c.4989G>C (p.Val1663=) c.5145G>C (p.Val1715=) c.5352G>C (p.Val1784=) c.4653G>C (p.Val1551=) c.5400G>C (p.Val1800=) | dbSNP COSMIC |
16 | g.3729641C>T | CA7869282 | CREBBP | c.5406G>A (p.Val1802=) c.5292G>A (p.Val1764=) c.5361G>A (p.Val1787=) c.4989G>A (p.Val1663=) c.5145G>A (p.Val1715=) c.5352G>A (p.Val1784=) c.4653G>A (p.Val1551=) c.5400G>A (p.Val1800=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729642A>C | CA394556536 | CREBBP | c.5405T>G (p.Val1802Gly) c.5291T>G (p.Val1764Gly) c.5360T>G (p.Val1787Gly) c.4988T>G (p.Val1663Gly) c.5144T>G (p.Val1715Gly) c.5351T>G (p.Val1784Gly) c.4652T>G (p.Val1551Gly) c.5399T>G (p.Val1800Gly) | gnomAD v4 |
16 | g.3729642A>G | CA394556538 | CREBBP | c.5405T>C (p.Val1802Ala) c.5291T>C (p.Val1764Ala) c.5360T>C (p.Val1787Ala) c.4988T>C (p.Val1663Ala) c.5144T>C (p.Val1715Ala) c.5351T>C (p.Val1784Ala) c.4652T>C (p.Val1551Ala) c.5399T>C (p.Val1800Ala) | |
16 | g.3729642A>T | CA394556540 | CREBBP | c.5405T>A (p.Val1802Glu) c.5291T>A (p.Val1764Glu) c.5360T>A (p.Val1787Glu) c.4988T>A (p.Val1663Glu) c.5144T>A (p.Val1715Glu) c.5351T>A (p.Val1784Glu) c.4652T>A (p.Val1551Glu) c.5399T>A (p.Val1800Glu) | |
16 | g.3729643C>A | CA394556546 | CREBBP | c.5404G>T (p.Val1802Leu) c.5290G>T (p.Val1764Leu) c.5359G>T (p.Val1787Leu) c.4987G>T (p.Val1663Leu) c.5143G>T (p.Val1715Leu) c.5350G>T (p.Val1784Leu) c.4651G>T (p.Val1551Leu) c.5398G>T (p.Val1800Leu) | dbSNP |
16 | g.3729643C>G | CA394556544 | CREBBP | c.5404G>C (p.Val1802Leu) c.5290G>C (p.Val1764Leu) c.5359G>C (p.Val1787Leu) c.4987G>C (p.Val1663Leu) c.5143G>C (p.Val1715Leu) c.5350G>C (p.Val1784Leu) c.4651G>C (p.Val1551Leu) c.5398G>C (p.Val1800Leu) | dbSNP |
16 | g.3729643C>T | CA394556542 | CREBBP | c.5404G>A (p.Val1802Met) c.5290G>A (p.Val1764Met) c.5359G>A (p.Val1787Met) c.4987G>A (p.Val1663Met) c.5143G>A (p.Val1715Met) c.5350G>A (p.Val1784Met) c.4651G>A (p.Val1551Met) c.5398G>A (p.Val1800Met) | ClinVar dbSNP gnomAD v4 COSMIC |
16 | g.3729644C>A | CA493394389 | CREBBP | c.5403G>T (p.Val1801=) c.5289G>T (p.Val1763=) c.5358G>T (p.Val1786=) c.4986G>T (p.Val1662=) c.5142G>T (p.Val1714=) c.5349G>T (p.Val1783=) c.4650G>T (p.Val1550=) c.5397G>T (p.Val1799=) | ClinVar dbSNP |
16 | g.3729644C= | CA2202916476 | CREBBP | c.5403G= (p.Val1801=) c.5289G= (p.Val1763=) c.5358G= (p.Val1786=) c.4986G= (p.Val1662=) c.5142G= (p.Val1714=) c.5349G= (p.Val1783=) c.4650G= (p.Val1550=) c.5397G= (p.Val1799=) | |
16 | g.3729644C>G | CA493394390 | CREBBP | c.5403G>C (p.Val1801=) c.5289G>C (p.Val1763=) c.5358G>C (p.Val1786=) c.4986G>C (p.Val1662=) c.5142G>C (p.Val1714=) c.5349G>C (p.Val1783=) c.4650G>C (p.Val1550=) c.5397G>C (p.Val1799=) | dbSNP |
16 | g.3729644C>T | CA7869283 | CREBBP | c.5403G>A (p.Val1801=) c.5289G>A (p.Val1763=) c.5358G>A (p.Val1786=) c.4986G>A (p.Val1662=) c.5142G>A (p.Val1714=) c.5349G>A (p.Val1783=) c.4650G>A (p.Val1550=) c.5397G>A (p.Val1799=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729645A>C | CA394556554 | CREBBP | c.5402T>G (p.Val1801Gly) c.5288T>G (p.Val1763Gly) c.5357T>G (p.Val1786Gly) c.4985T>G (p.Val1662Gly) c.5141T>G (p.Val1714Gly) c.5348T>G (p.Val1783Gly) c.4649T>G (p.Val1550Gly) c.5396T>G (p.Val1799Gly) | dbSNP |
16 | g.3729645A>G | CA394556550 | CREBBP | c.5402T>C (p.Val1801Ala) c.5288T>C (p.Val1763Ala) c.5357T>C (p.Val1786Ala) c.4985T>C (p.Val1662Ala) c.5141T>C (p.Val1714Ala) c.5348T>C (p.Val1783Ala) c.4649T>C (p.Val1550Ala) c.5396T>C (p.Val1799Ala) | dbSNP |
16 | g.3729645A>T | CA394556552 | CREBBP | c.5402T>A (p.Val1801Glu) c.5288T>A (p.Val1763Glu) c.5357T>A (p.Val1786Glu) c.4985T>A (p.Val1662Glu) c.5141T>A (p.Val1714Glu) c.5348T>A (p.Val1783Glu) c.4649T>A (p.Val1550Glu) c.5396T>A (p.Val1799Glu) | dbSNP |
16 | g.3729646C>A | CA394556557 | CREBBP | c.5401G>T (p.Val1801Leu) c.5287G>T (p.Val1763Leu) c.5356G>T (p.Val1786Leu) c.4984G>T (p.Val1662Leu) c.5140G>T (p.Val1714Leu) c.5347G>T (p.Val1783Leu) c.4648G>T (p.Val1550Leu) c.5395G>T (p.Val1799Leu) | dbSNP |
16 | g.3729646C>G | CA394556559 | CREBBP | c.5401G>C (p.Val1801Leu) c.5287G>C (p.Val1763Leu) c.5356G>C (p.Val1786Leu) c.4984G>C (p.Val1662Leu) c.5140G>C (p.Val1714Leu) c.5347G>C (p.Val1783Leu) c.4648G>C (p.Val1550Leu) c.5395G>C (p.Val1799Leu) | dbSNP |
16 | g.3729646C>T | CA394556560 | CREBBP | c.5401G>A (p.Val1801Met) c.5287G>A (p.Val1763Met) c.5356G>A (p.Val1786Met) c.4984G>A (p.Val1662Met) c.5140G>A (p.Val1714Met) c.5347G>A (p.Val1783Met) c.4648G>A (p.Val1550Met) c.5395G>A (p.Val1799Met) | dbSNP |
16 | g.3729647C>A | CA493394391 | CREBBP | c.5400G>T (p.Arg1800=) c.5286G>T (p.Arg1762=) c.5355G>T (p.Arg1785=) c.4983G>T (p.Arg1661=) c.5139G>T (p.Arg1713=) c.5346G>T (p.Arg1782=) c.4647G>T (p.Arg1549=) c.5394G>T (p.Arg1798=) | dbSNP |
16 | g.3729647C= | CA2202916477 | CREBBP | c.5400G= (p.Arg1800=) c.5286G= (p.Arg1762=) c.5355G= (p.Arg1785=) c.4983G= (p.Arg1661=) c.5139G= (p.Arg1713=) c.5346G= (p.Arg1782=) c.4647G= (p.Arg1549=) c.5394G= (p.Arg1798=) | |
16 | g.3729647C>G | CA493394392 | CREBBP | c.5400G>C (p.Arg1800=) c.5286G>C (p.Arg1762=) c.5355G>C (p.Arg1785=) c.4983G>C (p.Arg1661=) c.5139G>C (p.Arg1713=) c.5346G>C (p.Arg1782=) c.4647G>C (p.Arg1549=) c.5394G>C (p.Arg1798=) | dbSNP |
16 | g.3729647C>T | CA493394393 | CREBBP | c.5400G>A (p.Arg1800=) c.5286G>A (p.Arg1762=) c.5355G>A (p.Arg1785=) c.4983G>A (p.Arg1661=) c.5139G>A (p.Arg1713=) c.5346G>A (p.Arg1782=) c.4647G>A (p.Arg1549=) c.5394G>A (p.Arg1798=) | dbSNP |
16 | g.3729648C>A | CA394556562 | CREBBP | c.5399G>T (p.Arg1800Leu) c.5285G>T (p.Arg1762Leu) c.5354G>T (p.Arg1785Leu) c.4982G>T (p.Arg1661Leu) c.5138G>T (p.Arg1713Leu) c.5345G>T (p.Arg1782Leu) c.4646G>T (p.Arg1549Leu) c.5393G>T (p.Arg1798Leu) | dbSNP |
16 | g.3729648C>G | CA394556564 | CREBBP | c.5399G>C (p.Arg1800Pro) c.5285G>C (p.Arg1762Pro) c.5354G>C (p.Arg1785Pro) c.4982G>C (p.Arg1661Pro) c.5138G>C (p.Arg1713Pro) c.5345G>C (p.Arg1782Pro) c.4646G>C (p.Arg1549Pro) c.5393G>C (p.Arg1798Pro) | dbSNP |
16 | g.3729648C>T | CA394556566 | CREBBP | c.5399G>A (p.Arg1800Gln) c.5285G>A (p.Arg1762Gln) c.5354G>A (p.Arg1785Gln) c.4982G>A (p.Arg1661Gln) c.5138G>A (p.Arg1713Gln) c.5345G>A (p.Arg1782Gln) c.4646G>A (p.Arg1549Gln) c.5393G>A (p.Arg1798Gln) | dbSNP COSMIC |
16 | g.3729649G>A | CA394556568 | CREBBP | c.5398C>T (p.Arg1800Trp) c.5284C>T (p.Arg1762Trp) c.5353C>T (p.Arg1785Trp) c.4981C>T (p.Arg1661Trp) c.5137C>T (p.Arg1713Trp) c.5344C>T (p.Arg1782Trp) c.4645C>T (p.Arg1549Trp) c.5392C>T (p.Arg1798Trp) | ClinVar dbSNP |
16 | g.3729649G>C | CA394556570 | CREBBP | c.5398C>G (p.Arg1800Gly) c.5284C>G (p.Arg1762Gly) c.5353C>G (p.Arg1785Gly) c.4981C>G (p.Arg1661Gly) c.5137C>G (p.Arg1713Gly) c.5344C>G (p.Arg1782Gly) c.4645C>G (p.Arg1549Gly) c.5392C>G (p.Arg1798Gly) | dbSNP |
16 | g.3729649G>T | CA493394394 | CREBBP | c.5398C>A (p.Arg1800=) c.5284C>A (p.Arg1762=) c.5353C>A (p.Arg1785=) c.4981C>A (p.Arg1661=) c.5137C>A (p.Arg1713=) c.5344C>A (p.Arg1782=) c.4645C>A (p.Arg1549=) c.5392C>A (p.Arg1798=) | dbSNP |
16 | g.3729650C>A | CA394556571 | CREBBP | c.5397G>T (p.Lys1799Asn) c.5283G>T (p.Lys1761Asn) c.5352G>T (p.Lys1784Asn) c.4980G>T (p.Lys1660Asn) c.5136G>T (p.Lys1712Asn) c.5343G>T (p.Lys1781Asn) c.4644G>T (p.Lys1548Asn) c.5391G>T (p.Lys1797Asn) | dbSNP |
16 | g.3729650C>G | CA394556573 | CREBBP | c.5397G>C (p.Lys1799Asn) c.5283G>C (p.Lys1761Asn) c.5352G>C (p.Lys1784Asn) c.4980G>C (p.Lys1660Asn) c.5136G>C (p.Lys1712Asn) c.5343G>C (p.Lys1781Asn) c.4644G>C (p.Lys1548Asn) c.5391G>C (p.Lys1797Asn) | |
16 | g.3729650C>T | CA493394395 | CREBBP | c.5397G>A (p.Lys1799=) c.5283G>A (p.Lys1761=) c.5352G>A (p.Lys1784=) c.4980G>A (p.Lys1660=) c.5136G>A (p.Lys1712=) c.5343G>A (p.Lys1781=) c.4644G>A (p.Lys1548=) c.5391G>A (p.Lys1797=) | dbSNP |
16 | g.3729651T>A | CA394556578 | CREBBP | c.5396A>T (p.Lys1799Met) c.5282A>T (p.Lys1761Met) c.5351A>T (p.Lys1784Met) c.4979A>T (p.Lys1660Met) c.5135A>T (p.Lys1712Met) c.5342A>T (p.Lys1781Met) c.4643A>T (p.Lys1548Met) c.5390A>T (p.Lys1797Met) | dbSNP |
16 | g.3729651T>C | CA394556575 | CREBBP | c.5396A>G (p.Lys1799Arg) c.5282A>G (p.Lys1761Arg) c.5351A>G (p.Lys1784Arg) c.4979A>G (p.Lys1660Arg) c.5135A>G (p.Lys1712Arg) c.5342A>G (p.Lys1781Arg) c.4643A>G (p.Lys1548Arg) c.5390A>G (p.Lys1797Arg) | dbSNP |
16 | g.3729651T>G | CA394556576 | CREBBP | c.5396A>C (p.Lys1799Thr) c.5282A>C (p.Lys1761Thr) c.5351A>C (p.Lys1784Thr) c.4979A>C (p.Lys1660Thr) c.5135A>C (p.Lys1712Thr) c.5342A>C (p.Lys1781Thr) c.4643A>C (p.Lys1548Thr) c.5390A>C (p.Lys1797Thr) | |
16 | g.3729652T>A | CA394556581 | CREBBP | c.5395A>T (p.Lys1799Ter) c.5281A>T (p.Lys1761Ter) c.5350A>T (p.Lys1784Ter) c.4978A>T (p.Lys1660Ter) c.5134A>T (p.Lys1712Ter) c.5341A>T (p.Lys1781Ter) c.4642A>T (p.Lys1548Ter) c.5389A>T (p.Lys1797Ter) | dbSNP |
16 | g.3729652T>C | CA394556583 | CREBBP | c.5395A>G (p.Lys1799Glu) c.5281A>G (p.Lys1761Glu) c.5350A>G (p.Lys1784Glu) c.4978A>G (p.Lys1660Glu) c.5134A>G (p.Lys1712Glu) c.5341A>G (p.Lys1781Glu) c.4642A>G (p.Lys1548Glu) c.5389A>G (p.Lys1797Glu) | dbSNP |
16 | g.3729652T>G | CA394556584 | CREBBP | c.5395A>C (p.Lys1799Gln) c.5281A>C (p.Lys1761Gln) c.5350A>C (p.Lys1784Gln) c.4978A>C (p.Lys1660Gln) c.5134A>C (p.Lys1712Gln) c.5341A>C (p.Lys1781Gln) c.4642A>C (p.Lys1548Gln) c.5389A>C (p.Lys1797Gln) | |
16 | g.3729653C>A | CA394556586 | CREBBP | c.5394G>T (p.Met1798Ile) c.5280G>T (p.Met1760Ile) c.5349G>T (p.Met1783Ile) c.4977G>T (p.Met1659Ile) c.5133G>T (p.Met1711Ile) c.5340G>T (p.Met1780Ile) c.4641G>T (p.Met1547Ile) c.5388G>T (p.Met1796Ile) | |
16 | g.3729653C>G | CA394556588 | CREBBP | c.5394G>C (p.Met1798Ile) c.5280G>C (p.Met1760Ile) c.5349G>C (p.Met1783Ile) c.4977G>C (p.Met1659Ile) c.5133G>C (p.Met1711Ile) c.5340G>C (p.Met1780Ile) c.4641G>C (p.Met1547Ile) c.5388G>C (p.Met1796Ile) | dbSNP |
16 | g.3729653C>T | CA394556589 | CREBBP | c.5394G>A (p.Met1798Ile) c.5280G>A (p.Met1760Ile) c.5349G>A (p.Met1783Ile) c.4977G>A (p.Met1659Ile) c.5133G>A (p.Met1711Ile) c.5340G>A (p.Met1780Ile) c.4641G>A (p.Met1547Ile) c.5388G>A (p.Met1796Ile) | dbSNP |
16 | g.3729654A>C | CA394556591 | CREBBP | c.5393T>G (p.Met1798Arg) c.5279T>G (p.Met1760Arg) c.5348T>G (p.Met1783Arg) c.4976T>G (p.Met1659Arg) c.5132T>G (p.Met1711Arg) c.5339T>G (p.Met1780Arg) c.4640T>G (p.Met1547Arg) c.5387T>G (p.Met1796Arg) | dbSNP |
16 | g.3729654A>G | CA394556593 | CREBBP | c.5393T>C (p.Met1798Thr) c.5279T>C (p.Met1760Thr) c.5348T>C (p.Met1783Thr) c.4976T>C (p.Met1659Thr) c.5132T>C (p.Met1711Thr) c.5339T>C (p.Met1780Thr) c.4640T>C (p.Met1547Thr) c.5387T>C (p.Met1796Thr) | |
16 | g.3729654A>T | CA394556595 | CREBBP | c.5393T>A (p.Met1798Lys) c.5279T>A (p.Met1760Lys) c.5348T>A (p.Met1783Lys) c.4976T>A (p.Met1659Lys) c.5132T>A (p.Met1711Lys) c.5339T>A (p.Met1780Lys) c.4640T>A (p.Met1547Lys) c.5387T>A (p.Met1796Lys) | dbSNP |