Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3729509G>A | CA493394086 | CREBBP | c.5538C>T (p.Ile1846=) c.5424C>T (p.Ile1808=) c.5493C>T (p.Ile1831=) c.5121C>T (p.Ile1707=) c.5277C>T (p.Ile1759=) c.5484C>T (p.Ile1828=) c.4785C>T (p.Ile1595=) c.5532C>T (p.Ile1844=) | dbSNP |
16 | g.3729509G>C | CA394556069 | CREBBP | c.5538C>G (p.Ile1846Met) c.5424C>G (p.Ile1808Met) c.5493C>G (p.Ile1831Met) c.5121C>G (p.Ile1707Met) c.5277C>G (p.Ile1759Met) c.5484C>G (p.Ile1828Met) c.4785C>G (p.Ile1595Met) c.5532C>G (p.Ile1844Met) | dbSNP |
16 | g.3729509G>T | CA493394087 | CREBBP | c.5538C>A (p.Ile1846=) c.5424C>A (p.Ile1808=) c.5493C>A (p.Ile1831=) c.5121C>A (p.Ile1707=) c.5277C>A (p.Ile1759=) c.5484C>A (p.Ile1828=) c.4785C>A (p.Ile1595=) c.5532C>A (p.Ile1844=) | |
16 | g.3729510A>C | CA394556072 | CREBBP | c.5537T>G (p.Ile1846Ser) c.5423T>G (p.Ile1808Ser) c.5492T>G (p.Ile1831Ser) c.5120T>G (p.Ile1707Ser) c.5276T>G (p.Ile1759Ser) c.5483T>G (p.Ile1828Ser) c.4784T>G (p.Ile1595Ser) c.5531T>G (p.Ile1844Ser) | |
16 | g.3729510A>G | CA394556070 | CREBBP | c.5537T>C (p.Ile1846Thr) c.5423T>C (p.Ile1808Thr) c.5492T>C (p.Ile1831Thr) c.5120T>C (p.Ile1707Thr) c.5276T>C (p.Ile1759Thr) c.5483T>C (p.Ile1828Thr) c.4784T>C (p.Ile1595Thr) c.5531T>C (p.Ile1844Thr) | dbSNP |
16 | g.3729510A>T | CA394556071 | CREBBP | c.5537T>A (p.Ile1846Asn) c.5423T>A (p.Ile1808Asn) c.5492T>A (p.Ile1831Asn) c.5120T>A (p.Ile1707Asn) c.5276T>A (p.Ile1759Asn) c.5483T>A (p.Ile1828Asn) c.4784T>A (p.Ile1595Asn) c.5531T>A (p.Ile1844Asn) | dbSNP |
16 | g.3729511T>A | CA394556073 | CREBBP | c.5536A>T (p.Ile1846Phe) c.5422A>T (p.Ile1808Phe) c.5491A>T (p.Ile1831Phe) c.5119A>T (p.Ile1707Phe) c.5275A>T (p.Ile1759Phe) c.5482A>T (p.Ile1828Phe) c.4783A>T (p.Ile1595Phe) c.5530A>T (p.Ile1844Phe) | dbSNP |
16 | g.3729511T>C | CA394556074 | CREBBP | c.5536A>G (p.Ile1846Val) c.5422A>G (p.Ile1808Val) c.5491A>G (p.Ile1831Val) c.5119A>G (p.Ile1707Val) c.5275A>G (p.Ile1759Val) c.5482A>G (p.Ile1828Val) c.4783A>G (p.Ile1595Val) c.5530A>G (p.Ile1844Val) | |
16 | g.3729511T>G | CA394556075 | CREBBP | c.5536A>C (p.Ile1846Leu) c.5422A>C (p.Ile1808Leu) c.5491A>C (p.Ile1831Leu) c.5119A>C (p.Ile1707Leu) c.5275A>C (p.Ile1759Leu) c.5482A>C (p.Ile1828Leu) c.4783A>C (p.Ile1595Leu) c.5530A>C (p.Ile1844Leu) | dbSNP |
16 | g.3729512G>A | CA493394092 | CREBBP | c.5535C>T (p.Asn1845=) c.5421C>T (p.Asn1807=) c.5490C>T (p.Asn1830=) c.5118C>T (p.Asn1706=) c.5274C>T (p.Asn1758=) c.5481C>T (p.Asn1827=) c.4782C>T (p.Asn1594=) c.5529C>T (p.Asn1843=) | |
16 | g.3729512G>C | CA394556076 | CREBBP | c.5535C>G (p.Asn1845Lys) c.5421C>G (p.Asn1807Lys) c.5490C>G (p.Asn1830Lys) c.5118C>G (p.Asn1706Lys) c.5274C>G (p.Asn1758Lys) c.5481C>G (p.Asn1827Lys) c.4782C>G (p.Asn1594Lys) c.5529C>G (p.Asn1843Lys) | |
16 | g.3729512G>T | CA394556077 | CREBBP | c.5535C>A (p.Asn1845Lys) c.5421C>A (p.Asn1807Lys) c.5490C>A (p.Asn1830Lys) c.5118C>A (p.Asn1706Lys) c.5274C>A (p.Asn1758Lys) c.5481C>A (p.Asn1827Lys) c.4782C>A (p.Asn1594Lys) c.5529C>A (p.Asn1843Lys) | |
16 | g.3729513T>A | CA394556078 | CREBBP | c.5534A>T (p.Asn1845Ile) c.5420A>T (p.Asn1807Ile) c.5489A>T (p.Asn1830Ile) c.5117A>T (p.Asn1706Ile) c.5273A>T (p.Asn1758Ile) c.5480A>T (p.Asn1827Ile) c.4781A>T (p.Asn1594Ile) c.5528A>T (p.Asn1843Ile) | dbSNP |
16 | g.3729513T>C | CA394556079 | CREBBP | c.5534A>G (p.Asn1845Ser) c.5420A>G (p.Asn1807Ser) c.5489A>G (p.Asn1830Ser) c.5117A>G (p.Asn1706Ser) c.5273A>G (p.Asn1758Ser) c.5480A>G (p.Asn1827Ser) c.4781A>G (p.Asn1594Ser) c.5528A>G (p.Asn1843Ser) | dbSNP gnomAD v4 |
16 | g.3729513T>G | CA394556080 | CREBBP | c.5534A>C (p.Asn1845Thr) c.5420A>C (p.Asn1807Thr) c.5489A>C (p.Asn1830Thr) c.5117A>C (p.Asn1706Thr) c.5273A>C (p.Asn1758Thr) c.5480A>C (p.Asn1827Thr) c.4781A>C (p.Asn1594Thr) c.5528A>C (p.Asn1843Thr) | dbSNP |
16 | g.3729514T>A | CA394556083 | CREBBP | c.5533A>T (p.Asn1845Tyr) c.5419A>T (p.Asn1807Tyr) c.5488A>T (p.Asn1830Tyr) c.5116A>T (p.Asn1706Tyr) c.5272A>T (p.Asn1758Tyr) c.5479A>T (p.Asn1827Tyr) c.4780A>T (p.Asn1594Tyr) c.5527A>T (p.Asn1843Tyr) | dbSNP |
16 | g.3729514T>C | CA394556085 | CREBBP | c.5533A>G (p.Asn1845Asp) c.5419A>G (p.Asn1807Asp) c.5488A>G (p.Asn1830Asp) c.5116A>G (p.Asn1706Asp) c.5272A>G (p.Asn1758Asp) c.5479A>G (p.Asn1827Asp) c.4780A>G (p.Asn1594Asp) c.5527A>G (p.Asn1843Asp) | |
16 | g.3729514T>G | CA394556087 | CREBBP | c.5533A>C (p.Asn1845His) c.5419A>C (p.Asn1807His) c.5488A>C (p.Asn1830His) c.5116A>C (p.Asn1706His) c.5272A>C (p.Asn1758His) c.5479A>C (p.Asn1827His) c.4780A>C (p.Asn1594His) c.5527A>C (p.Asn1843His) | |
16 | g.3729515G>A | CA493394094 | CREBBP | c.5532C>T (p.Leu1844=) c.5418C>T (p.Leu1806=) c.5487C>T (p.Leu1829=) c.5115C>T (p.Leu1705=) c.5271C>T (p.Leu1757=) c.5478C>T (p.Leu1826=) c.4779C>T (p.Leu1593=) c.5526C>T (p.Leu1842=) | dbSNP |
16 | g.3729515G>C | CA493394095 | CREBBP | c.5532C>G (p.Leu1844=) c.5418C>G (p.Leu1806=) c.5487C>G (p.Leu1829=) c.5115C>G (p.Leu1705=) c.5271C>G (p.Leu1757=) c.5478C>G (p.Leu1826=) c.4779C>G (p.Leu1593=) c.5526C>G (p.Leu1842=) | dbSNP |
16 | g.3729515G>T | CA493394096 | CREBBP | c.5532C>A (p.Leu1844=) c.5418C>A (p.Leu1806=) c.5487C>A (p.Leu1829=) c.5115C>A (p.Leu1705=) c.5271C>A (p.Leu1757=) c.5478C>A (p.Leu1826=) c.4779C>A (p.Leu1593=) c.5526C>A (p.Leu1842=) | dbSNP |
16 | g.3729516A>C | CA394556093 | CREBBP | c.5531T>G (p.Leu1844Arg) c.5417T>G (p.Leu1806Arg) c.5486T>G (p.Leu1829Arg) c.5114T>G (p.Leu1705Arg) c.5270T>G (p.Leu1757Arg) c.5477T>G (p.Leu1826Arg) c.4778T>G (p.Leu1593Arg) c.5525T>G (p.Leu1842Arg) | |
16 | g.3729516A>G | CA394556091 | CREBBP | c.5531T>C (p.Leu1844Pro) c.5417T>C (p.Leu1806Pro) c.5486T>C (p.Leu1829Pro) c.5114T>C (p.Leu1705Pro) c.5270T>C (p.Leu1757Pro) c.5477T>C (p.Leu1826Pro) c.4778T>C (p.Leu1593Pro) c.5525T>C (p.Leu1842Pro) | dbSNP |
16 | g.3729516A>T | CA394556090 | CREBBP | c.5531T>A (p.Leu1844His) c.5417T>A (p.Leu1806His) c.5486T>A (p.Leu1829His) c.5114T>A (p.Leu1705His) c.5270T>A (p.Leu1757His) c.5477T>A (p.Leu1826His) c.4778T>A (p.Leu1593His) c.5525T>A (p.Leu1842His) | dbSNP |
16 | g.3729517G>A | CA394556096 | CREBBP | c.5530C>T (p.Leu1844Phe) c.5416C>T (p.Leu1806Phe) c.5485C>T (p.Leu1829Phe) c.5113C>T (p.Leu1705Phe) c.5269C>T (p.Leu1757Phe) c.5476C>T (p.Leu1826Phe) c.4777C>T (p.Leu1593Phe) c.5524C>T (p.Leu1842Phe) | dbSNP |
16 | g.3729517G>C | CA394556098 | CREBBP | c.5530C>G (p.Leu1844Val) c.5416C>G (p.Leu1806Val) c.5485C>G (p.Leu1829Val) c.5113C>G (p.Leu1705Val) c.5269C>G (p.Leu1757Val) c.5476C>G (p.Leu1826Val) c.4777C>G (p.Leu1593Val) c.5524C>G (p.Leu1842Val) | dbSNP gnomAD v4 |
16 | g.3729517G>T | CA394556097 | CREBBP | c.5530C>A (p.Leu1844Ile) c.5416C>A (p.Leu1806Ile) c.5485C>A (p.Leu1829Ile) c.5113C>A (p.Leu1705Ile) c.5269C>A (p.Leu1757Ile) c.5476C>A (p.Leu1826Ile) c.4777C>A (p.Leu1593Ile) c.5524C>A (p.Leu1842Ile) | dbSNP |
16 | g.3729518G>A | CA493394102 | CREBBP | c.5529C>T (p.Cys1843=) c.5415C>T (p.Cys1805=) c.5484C>T (p.Cys1828=) c.5112C>T (p.Cys1704=) c.5268C>T (p.Cys1756=) c.5475C>T (p.Cys1825=) c.4776C>T (p.Cys1592=) c.5523C>T (p.Cys1841=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729518G>C | CA394556100 | CREBBP | c.5529C>G (p.Cys1843Trp) c.5415C>G (p.Cys1805Trp) c.5484C>G (p.Cys1828Trp) c.5112C>G (p.Cys1704Trp) c.5268C>G (p.Cys1756Trp) c.5475C>G (p.Cys1825Trp) c.4776C>G (p.Cys1592Trp) c.5523C>G (p.Cys1841Trp) | dbSNP |
16 | g.3729518G= | CA2202916436 | CREBBP | c.5529C= (p.Cys1843=) c.5415C= (p.Cys1805=) c.5484C= (p.Cys1828=) c.5112C= (p.Cys1704=) c.5268C= (p.Cys1756=) c.5475C= (p.Cys1825=) c.4776C= (p.Cys1592=) c.5523C= (p.Cys1841=) | |
16 | g.3729518G>T | CA394556102 | CREBBP | c.5529C>A (p.Cys1843Ter) c.5415C>A (p.Cys1805Ter) c.5484C>A (p.Cys1828Ter) c.5112C>A (p.Cys1704Ter) c.5268C>A (p.Cys1756Ter) c.5475C>A (p.Cys1825Ter) c.4776C>A (p.Cys1592Ter) c.5523C>A (p.Cys1841Ter) | dbSNP |
16 | g.3729519C>A | CA394556103 | CREBBP | c.5528G>T (p.Cys1843Phe) c.5414G>T (p.Cys1805Phe) c.5483G>T (p.Cys1828Phe) c.5111G>T (p.Cys1704Phe) c.5267G>T (p.Cys1756Phe) c.5474G>T (p.Cys1825Phe) c.4775G>T (p.Cys1592Phe) c.5522G>T (p.Cys1841Phe) | dbSNP |
16 | g.3729519C>G | CA394556104 | CREBBP | c.5528G>C (p.Cys1843Ser) c.5414G>C (p.Cys1805Ser) c.5483G>C (p.Cys1828Ser) c.5111G>C (p.Cys1704Ser) c.5267G>C (p.Cys1756Ser) c.5474G>C (p.Cys1825Ser) c.4775G>C (p.Cys1592Ser) c.5522G>C (p.Cys1841Ser) | dbSNP |
16 | g.3729519C>T | CA394556106 | CREBBP | c.5528G>A (p.Cys1843Tyr) c.5414G>A (p.Cys1805Tyr) c.5483G>A (p.Cys1828Tyr) c.5111G>A (p.Cys1704Tyr) c.5267G>A (p.Cys1756Tyr) c.5474G>A (p.Cys1825Tyr) c.4775G>A (p.Cys1592Tyr) c.5522G>A (p.Cys1841Tyr) | dbSNP |
16 | g.3729520A>C | CA394556109 | CREBBP | c.5527T>G (p.Cys1843Gly) c.5413T>G (p.Cys1805Gly) c.5482T>G (p.Cys1828Gly) c.5110T>G (p.Cys1704Gly) c.5266T>G (p.Cys1756Gly) c.5473T>G (p.Cys1825Gly) c.4774T>G (p.Cys1592Gly) c.5521T>G (p.Cys1841Gly) | |
16 | g.3729520A>G | CA394556110 | CREBBP | c.5527T>C (p.Cys1843Arg) c.5413T>C (p.Cys1805Arg) c.5482T>C (p.Cys1828Arg) c.5110T>C (p.Cys1704Arg) c.5266T>C (p.Cys1756Arg) c.5473T>C (p.Cys1825Arg) c.4774T>C (p.Cys1592Arg) c.5521T>C (p.Cys1841Arg) | dbSNP |
16 | g.3729520A>T | CA394556113 | CREBBP | c.5527T>A (p.Cys1843Ser) c.5413T>A (p.Cys1805Ser) c.5482T>A (p.Cys1828Ser) c.5110T>A (p.Cys1704Ser) c.5266T>A (p.Cys1756Ser) c.5473T>A (p.Cys1825Ser) c.4774T>A (p.Cys1592Ser) c.5521T>A (p.Cys1841Ser) | |
16 | g.3729521G>A | CA493394104 | CREBBP | c.5526C>T (p.Phe1842=) c.5412C>T (p.Phe1804=) c.5481C>T (p.Phe1827=) c.5109C>T (p.Phe1703=) c.5265C>T (p.Phe1755=) c.5472C>T (p.Phe1824=) c.4773C>T (p.Phe1591=) c.5520C>T (p.Phe1840=) | |
16 | g.3729521G>C | CA394556115 | CREBBP | c.5526C>G (p.Phe1842Leu) c.5412C>G (p.Phe1804Leu) c.5481C>G (p.Phe1827Leu) c.5109C>G (p.Phe1703Leu) c.5265C>G (p.Phe1755Leu) c.5472C>G (p.Phe1824Leu) c.4773C>G (p.Phe1591Leu) c.5520C>G (p.Phe1840Leu) | |
16 | g.3729521G>T | CA394556116 | CREBBP | c.5526C>A (p.Phe1842Leu) c.5412C>A (p.Phe1804Leu) c.5481C>A (p.Phe1827Leu) c.5109C>A (p.Phe1703Leu) c.5265C>A (p.Phe1755Leu) c.5472C>A (p.Phe1824Leu) c.4773C>A (p.Phe1591Leu) c.5520C>A (p.Phe1840Leu) | |
16 | g.3729522A>C | CA394556117 | CREBBP | c.5525T>G (p.Phe1842Cys) c.5411T>G (p.Phe1804Cys) c.5480T>G (p.Phe1827Cys) c.5108T>G (p.Phe1703Cys) c.5264T>G (p.Phe1755Cys) c.5471T>G (p.Phe1824Cys) c.4772T>G (p.Phe1591Cys) c.5519T>G (p.Phe1840Cys) | |
16 | g.3729522A>G | CA394556118 | CREBBP | c.5525T>C (p.Phe1842Ser) c.5411T>C (p.Phe1804Ser) c.5480T>C (p.Phe1827Ser) c.5108T>C (p.Phe1703Ser) c.5264T>C (p.Phe1755Ser) c.5471T>C (p.Phe1824Ser) c.4772T>C (p.Phe1591Ser) c.5519T>C (p.Phe1840Ser) | dbSNP |
16 | g.3729522A>T | CA394556119 | CREBBP | c.5525T>A (p.Phe1842Tyr) c.5411T>A (p.Phe1804Tyr) c.5480T>A (p.Phe1827Tyr) c.5108T>A (p.Phe1703Tyr) c.5264T>A (p.Phe1755Tyr) c.5471T>A (p.Phe1824Tyr) c.4772T>A (p.Phe1591Tyr) c.5519T>A (p.Phe1840Tyr) | dbSNP |
16 | g.3729523A>C | CA394556122 | CREBBP | c.5524T>G (p.Phe1842Val) c.5410T>G (p.Phe1804Val) c.5479T>G (p.Phe1827Val) c.5107T>G (p.Phe1703Val) c.5263T>G (p.Phe1755Val) c.5470T>G (p.Phe1824Val) c.4771T>G (p.Phe1591Val) c.5518T>G (p.Phe1840Val) | |
16 | g.3729523A>G | CA394556121 | CREBBP | c.5524T>C (p.Phe1842Leu) c.5410T>C (p.Phe1804Leu) c.5479T>C (p.Phe1827Leu) c.5107T>C (p.Phe1703Leu) c.5263T>C (p.Phe1755Leu) c.5470T>C (p.Phe1824Leu) c.4771T>C (p.Phe1591Leu) c.5518T>C (p.Phe1840Leu) | |
16 | g.3729523A>T | CA394556120 | CREBBP | c.5524T>A (p.Phe1842Ile) c.5410T>A (p.Phe1804Ile) c.5479T>A (p.Phe1827Ile) c.5107T>A (p.Phe1703Ile) c.5263T>A (p.Phe1755Ile) c.5470T>A (p.Phe1824Ile) c.4771T>A (p.Phe1591Ile) c.5518T>A (p.Phe1840Ile) | |
16 | g.3729524G>A | CA493394109 | CREBBP | c.5523C>T (p.Pro1841=) c.5409C>T (p.Pro1803=) c.5478C>T (p.Pro1826=) c.5106C>T (p.Pro1702=) c.5262C>T (p.Pro1754=) c.5469C>T (p.Pro1823=) c.4770C>T (p.Pro1590=) c.5517C>T (p.Pro1839=) | dbSNP gnomAD v4 |
16 | g.3729524G>C | CA493394108 | CREBBP | c.5523C>G (p.Pro1841=) c.5409C>G (p.Pro1803=) c.5478C>G (p.Pro1826=) c.5106C>G (p.Pro1702=) c.5262C>G (p.Pro1754=) c.5469C>G (p.Pro1823=) c.4770C>G (p.Pro1590=) c.5517C>G (p.Pro1839=) | |
16 | g.3729524G>T | CA493394110 | CREBBP | c.5523C>A (p.Pro1841=) c.5409C>A (p.Pro1803=) c.5478C>A (p.Pro1826=) c.5106C>A (p.Pro1702=) c.5262C>A (p.Pro1754=) c.5469C>A (p.Pro1823=) c.4770C>A (p.Pro1590=) c.5517C>A (p.Pro1839=) | dbSNP |
16 | g.3729525G>A | CA394556123 | CREBBP | c.5522C>T (p.Pro1841Leu) c.5408C>T (p.Pro1803Leu) c.5477C>T (p.Pro1826Leu) c.5105C>T (p.Pro1702Leu) c.5261C>T (p.Pro1754Leu) c.5468C>T (p.Pro1823Leu) c.4769C>T (p.Pro1590Leu) c.5516C>T (p.Pro1839Leu) | dbSNP |
16 | g.3729525G>C | CA394556124 | CREBBP | c.5522C>G (p.Pro1841Arg) c.5408C>G (p.Pro1803Arg) c.5477C>G (p.Pro1826Arg) c.5105C>G (p.Pro1702Arg) c.5261C>G (p.Pro1754Arg) c.5468C>G (p.Pro1823Arg) c.4769C>G (p.Pro1590Arg) c.5516C>G (p.Pro1839Arg) | dbSNP |
16 | g.3729525G>T | CA394556125 | CREBBP | c.5522C>A (p.Pro1841His) c.5408C>A (p.Pro1803His) c.5477C>A (p.Pro1826His) c.5105C>A (p.Pro1702His) c.5261C>A (p.Pro1754His) c.5468C>A (p.Pro1823His) c.4769C>A (p.Pro1590His) c.5516C>A (p.Pro1839His) | dbSNP |
16 | g.3729526G>A | CA394556126 | CREBBP | c.5521C>T (p.Pro1841Ser) c.5407C>T (p.Pro1803Ser) c.5476C>T (p.Pro1826Ser) c.5104C>T (p.Pro1702Ser) c.5260C>T (p.Pro1754Ser) c.5467C>T (p.Pro1823Ser) c.4768C>T (p.Pro1590Ser) c.5515C>T (p.Pro1839Ser) | dbSNP |
16 | g.3729526G>C | CA394556127 | CREBBP | c.5521C>G (p.Pro1841Ala) c.5407C>G (p.Pro1803Ala) c.5476C>G (p.Pro1826Ala) c.5104C>G (p.Pro1702Ala) c.5260C>G (p.Pro1754Ala) c.5467C>G (p.Pro1823Ala) c.4768C>G (p.Pro1590Ala) c.5515C>G (p.Pro1839Ala) | dbSNP |
16 | g.3729526G>T | CA394556128 | CREBBP | c.5521C>A (p.Pro1841Thr) c.5407C>A (p.Pro1803Thr) c.5476C>A (p.Pro1826Thr) c.5104C>A (p.Pro1702Thr) c.5260C>A (p.Pro1754Thr) c.5467C>A (p.Pro1823Thr) c.4768C>A (p.Pro1590Thr) c.5515C>A (p.Pro1839Thr) | |
16 | g.3729527C>A | CA493394113 | CREBBP | c.5520G>T (p.Val1840=) c.5406G>T (p.Val1802=) c.5475G>T (p.Val1825=) c.5103G>T (p.Val1701=) c.5259G>T (p.Val1753=) c.5466G>T (p.Val1822=) c.4767G>T (p.Val1589=) c.5514G>T (p.Val1838=) | |
16 | g.3729527C>G | CA493394114 | CREBBP | c.5520G>C (p.Val1840=) c.5406G>C (p.Val1802=) c.5475G>C (p.Val1825=) c.5103G>C (p.Val1701=) c.5259G>C (p.Val1753=) c.5466G>C (p.Val1822=) c.4767G>C (p.Val1589=) c.5514G>C (p.Val1838=) | |
16 | g.3729527C>T | CA493394115 | CREBBP | c.5520G>A (p.Val1840=) c.5406G>A (p.Val1802=) c.5475G>A (p.Val1825=) c.5103G>A (p.Val1701=) c.5259G>A (p.Val1753=) c.5466G>A (p.Val1822=) c.4767G>A (p.Val1589=) c.5514G>A (p.Val1838=) | |
16 | g.3729528A>C | CA394556129 | CREBBP | c.5519T>G (p.Val1840Gly) c.5405T>G (p.Val1802Gly) c.5474T>G (p.Val1825Gly) c.5102T>G (p.Val1701Gly) c.5258T>G (p.Val1753Gly) c.5465T>G (p.Val1822Gly) c.4766T>G (p.Val1589Gly) c.5513T>G (p.Val1838Gly) | dbSNP |
16 | g.3729528A>G | CA394556130 | CREBBP | c.5519T>C (p.Val1840Ala) c.5405T>C (p.Val1802Ala) c.5474T>C (p.Val1825Ala) c.5102T>C (p.Val1701Ala) c.5258T>C (p.Val1753Ala) c.5465T>C (p.Val1822Ala) c.4766T>C (p.Val1589Ala) c.5513T>C (p.Val1838Ala) | dbSNP |
16 | g.3729528A>T | CA394556131 | CREBBP | c.5519T>A (p.Val1840Glu) c.5405T>A (p.Val1802Glu) c.5474T>A (p.Val1825Glu) c.5102T>A (p.Val1701Glu) c.5258T>A (p.Val1753Glu) c.5465T>A (p.Val1822Glu) c.4766T>A (p.Val1589Glu) c.5513T>A (p.Val1838Glu) | dbSNP |
16 | g.3729529C>A | CA394556132 | CREBBP | c.5518G>T (p.Val1840Leu) c.5404G>T (p.Val1802Leu) c.5473G>T (p.Val1825Leu) c.5101G>T (p.Val1701Leu) c.5257G>T (p.Val1753Leu) c.5464G>T (p.Val1822Leu) c.4765G>T (p.Val1589Leu) c.5512G>T (p.Val1838Leu) | ClinVar dbSNP |
16 | g.3729529C= | CA2202916437 | CREBBP | c.5518G= (p.Val1840=) c.5404G= (p.Val1802=) c.5473G= (p.Val1825=) c.5101G= (p.Val1701=) c.5257G= (p.Val1753=) c.5464G= (p.Val1822=) c.4765G= (p.Val1589=) c.5512G= (p.Val1838=) | |
16 | g.3729529C>G | CA394556133 | CREBBP | c.5518G>C (p.Val1840Leu) c.5404G>C (p.Val1802Leu) c.5473G>C (p.Val1825Leu) c.5101G>C (p.Val1701Leu) c.5257G>C (p.Val1753Leu) c.5464G>C (p.Val1822Leu) c.4765G>C (p.Val1589Leu) c.5512G>C (p.Val1838Leu) | |
16 | g.3729529C>T | CA394556134 | CREBBP | c.5518G>A (p.Val1840Met) c.5404G>A (p.Val1802Met) c.5473G>A (p.Val1825Met) c.5101G>A (p.Val1701Met) c.5257G>A (p.Val1753Met) c.5464G>A (p.Val1822Met) c.4765G>A (p.Val1589Met) c.5512G>A (p.Val1838Met) | gnomAD v4 |
16 | g.3729530G>A | CA243763 | CREBBP | c.5517C>T (p.Pro1839=) c.5403C>T (p.Pro1801=) c.5472C>T (p.Pro1824=) c.5100C>T (p.Pro1700=) c.5256C>T (p.Pro1752=) c.5463C>T (p.Pro1821=) c.4764C>T (p.Pro1588=) c.5511C>T (p.Pro1837=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729530G>C | CA493394119 | CREBBP | c.5517C>G (p.Pro1839=) c.5403C>G (p.Pro1801=) c.5472C>G (p.Pro1824=) c.5100C>G (p.Pro1700=) c.5256C>G (p.Pro1752=) c.5463C>G (p.Pro1821=) c.4764C>G (p.Pro1588=) c.5511C>G (p.Pro1837=) | dbSNP |
16 | g.3729530G= | CA2202916438 | CREBBP | c.5517C= (p.Pro1839=) c.5403C= (p.Pro1801=) c.5472C= (p.Pro1824=) c.5100C= (p.Pro1700=) c.5256C= (p.Pro1752=) c.5463C= (p.Pro1821=) c.4764C= (p.Pro1588=) c.5511C= (p.Pro1837=) | |
16 | g.3729530G>T | CA493394120 | CREBBP | c.5517C>A (p.Pro1839=) c.5403C>A (p.Pro1801=) c.5472C>A (p.Pro1824=) c.5100C>A (p.Pro1700=) c.5256C>A (p.Pro1752=) c.5463C>A (p.Pro1821=) c.4764C>A (p.Pro1588=) c.5511C>A (p.Pro1837=) | dbSNP |
16 | g.3729531G>A | CA394556137 | CREBBP | c.5516C>T (p.Pro1839Leu) c.5402C>T (p.Pro1801Leu) c.5471C>T (p.Pro1824Leu) c.5099C>T (p.Pro1700Leu) c.5255C>T (p.Pro1752Leu) c.5462C>T (p.Pro1821Leu) c.4763C>T (p.Pro1588Leu) c.5510C>T (p.Pro1837Leu) | dbSNP |
16 | g.3729531G>C | CA394556135 | CREBBP | c.5516C>G (p.Pro1839Arg) c.5402C>G (p.Pro1801Arg) c.5471C>G (p.Pro1824Arg) c.5099C>G (p.Pro1700Arg) c.5255C>G (p.Pro1752Arg) c.5462C>G (p.Pro1821Arg) c.4763C>G (p.Pro1588Arg) c.5510C>G (p.Pro1837Arg) | dbSNP |
16 | g.3729531G= | CA2202916439 | CREBBP | c.5516C= (p.Pro1839=) c.5402C= (p.Pro1801=) c.5471C= (p.Pro1824=) c.5099C= (p.Pro1700=) c.5255C= (p.Pro1752=) c.5462C= (p.Pro1821=) c.4763C= (p.Pro1588=) c.5510C= (p.Pro1837=) | |
16 | g.3729531G>T | CA394556136 | CREBBP | c.5516C>A (p.Pro1839His) c.5402C>A (p.Pro1801His) c.5471C>A (p.Pro1824His) c.5099C>A (p.Pro1700His) c.5255C>A (p.Pro1752His) c.5462C>A (p.Pro1821His) c.4763C>A (p.Pro1588His) c.5510C>A (p.Pro1837His) | dbSNP |
16 | g.3729531_3729532insCCAA | CA2202916440 | CREBBP | c.5515_5516insTTGG (p.Pro1839LeufsTer?) c.5401_5402insTTGG (p.Pro1801LeufsTer?) c.5470_5471insTTGG (p.Pro1824LeufsTer?) c.5098_5099insTTGG (p.Pro1700LeufsTer?) c.5254_5255insTTGG (p.Pro1752LeufsTer?) c.5461_5462insTTGG (p.Pro1821LeufsTer?) c.4762_4763insTTGG (p.Pro1588LeufsTer?) c.5509_5510insTTGG (p.Pro1837LeufsTer?) | dbSNP |
16 | g.3729532G>A | CA394556138 | CREBBP | c.5515C>T (p.Pro1839Ser) c.5401C>T (p.Pro1801Ser) c.5470C>T (p.Pro1824Ser) c.5098C>T (p.Pro1700Ser) c.5254C>T (p.Pro1752Ser) c.5461C>T (p.Pro1821Ser) c.4762C>T (p.Pro1588Ser) c.5509C>T (p.Pro1837Ser) | dbSNP gnomAD v4 |
16 | g.3729532G>C | CA394556139 | CREBBP | c.5515C>G (p.Pro1839Ala) c.5401C>G (p.Pro1801Ala) c.5470C>G (p.Pro1824Ala) c.5098C>G (p.Pro1700Ala) c.5254C>G (p.Pro1752Ala) c.5461C>G (p.Pro1821Ala) c.4762C>G (p.Pro1588Ala) c.5509C>G (p.Pro1837Ala) | dbSNP |
16 | g.3729532G= | CA2202916441 | CREBBP | c.5515C= (p.Pro1839=) c.5401C= (p.Pro1801=) c.5470C= (p.Pro1824=) c.5098C= (p.Pro1700=) c.5254C= (p.Pro1752=) c.5461C= (p.Pro1821=) c.4762C= (p.Pro1588=) c.5509C= (p.Pro1837=) | |
16 | g.3729532G>T | CA394556140 | CREBBP | c.5515C>A (p.Pro1839Thr) c.5401C>A (p.Pro1801Thr) c.5470C>A (p.Pro1824Thr) c.5098C>A (p.Pro1700Thr) c.5254C>A (p.Pro1752Thr) c.5461C>A (p.Pro1821Thr) c.4762C>A (p.Pro1588Thr) c.5509C>A (p.Pro1837Thr) | dbSNP |
16 | g.3729532_3729533insAAAACAAAT | CA2202916442 | CREBBP | c.5514_5515insATTTGTTTT (p.Cys1838_Pro1839insIleCysPhe) c.5400_5401insATTTGTTTT (p.Cys1800_Pro1801insIleCysPhe) c.5469_5470insATTTGTTTT (p.Cys1823_Pro1824insIleCysPhe) c.5097_5098insATTTGTTTT (p.Cys1699_Pro1700insIleCysPhe) c.5253_5254insATTTGTTTT (p.Cys1751_Pro1752insIleCysPhe) c.5460_5461insATTTGTTTT (p.Cys1820_Pro1821insIleCysPhe) c.4761_4762insATTTGTTTT (p.Cys1587_Pro1588insIleCysPhe) c.5508_5509insATTTGTTTT (p.Cys1836_Pro1837insIleCysPhe) | dbSNP |
16 | g.3729533G>A | CA493394274 | CREBBP | c.5514C>T (p.Cys1838=) c.5400C>T (p.Cys1800=) c.5469C>T (p.Cys1823=) c.5097C>T (p.Cys1699=) c.5253C>T (p.Cys1751=) c.5460C>T (p.Cys1820=) c.4761C>T (p.Cys1587=) c.5508C>T (p.Cys1836=) | dbSNP |
16 | g.3729533G>C | CA394556141 | CREBBP | c.5514C>G (p.Cys1838Trp) c.5400C>G (p.Cys1800Trp) c.5469C>G (p.Cys1823Trp) c.5097C>G (p.Cys1699Trp) c.5253C>G (p.Cys1751Trp) c.5460C>G (p.Cys1820Trp) c.4761C>G (p.Cys1587Trp) c.5508C>G (p.Cys1836Trp) | dbSNP |
16 | g.3729533G>T | CA394556142 | CREBBP | c.5514C>A (p.Cys1838Ter) c.5400C>A (p.Cys1800Ter) c.5469C>A (p.Cys1823Ter) c.5097C>A (p.Cys1699Ter) c.5253C>A (p.Cys1751Ter) c.5460C>A (p.Cys1820Ter) c.4761C>A (p.Cys1587Ter) c.5508C>A (p.Cys1836Ter) | dbSNP |
16 | g.3729534C>A | CA394556143 | CREBBP | c.5513G>T (p.Cys1838Phe) c.5399G>T (p.Cys1800Phe) c.5468G>T (p.Cys1823Phe) c.5096G>T (p.Cys1699Phe) c.5252G>T (p.Cys1751Phe) c.5459G>T (p.Cys1820Phe) c.4760G>T (p.Cys1587Phe) c.5507G>T (p.Cys1836Phe) | dbSNP |
16 | g.3729534C= | CA2202916443 | CREBBP | c.5513G= (p.Cys1838=) c.5399G= (p.Cys1800=) c.5468G= (p.Cys1823=) c.5096G= (p.Cys1699=) c.5252G= (p.Cys1751=) c.5459G= (p.Cys1820=) c.4760G= (p.Cys1587=) c.5507G= (p.Cys1836=) | |
16 | g.3729534C>G | CA394556144 | CREBBP | c.5513G>C (p.Cys1838Ser) c.5399G>C (p.Cys1800Ser) c.5468G>C (p.Cys1823Ser) c.5096G>C (p.Cys1699Ser) c.5252G>C (p.Cys1751Ser) c.5459G>C (p.Cys1820Ser) c.4760G>C (p.Cys1587Ser) c.5507G>C (p.Cys1836Ser) | dbSNP |
16 | g.3729534C>T | CA394556145 | CREBBP | c.5513G>A (p.Cys1838Tyr) c.5399G>A (p.Cys1800Tyr) c.5468G>A (p.Cys1823Tyr) c.5096G>A (p.Cys1699Tyr) c.5252G>A (p.Cys1751Tyr) c.5459G>A (p.Cys1820Tyr) c.4760G>A (p.Cys1587Tyr) c.5507G>A (p.Cys1836Tyr) | ClinVar dbSNP |
16 | g.3729535A>C | CA394556146 | CREBBP | c.5512T>G (p.Cys1838Gly) c.5398T>G (p.Cys1800Gly) c.5467T>G (p.Cys1823Gly) c.5095T>G (p.Cys1699Gly) c.5251T>G (p.Cys1751Gly) c.5458T>G (p.Cys1820Gly) c.4759T>G (p.Cys1587Gly) c.5506T>G (p.Cys1836Gly) | |
16 | g.3729535A>G | CA394556147 | CREBBP | c.5512T>C (p.Cys1838Arg) c.5398T>C (p.Cys1800Arg) c.5467T>C (p.Cys1823Arg) c.5095T>C (p.Cys1699Arg) c.5251T>C (p.Cys1751Arg) c.5458T>C (p.Cys1820Arg) c.4759T>C (p.Cys1587Arg) c.5506T>C (p.Cys1836Arg) | |
16 | g.3729535A>T | CA394556148 | CREBBP | c.5512T>A (p.Cys1838Ser) c.5398T>A (p.Cys1800Ser) c.5467T>A (p.Cys1823Ser) c.5095T>A (p.Cys1699Ser) c.5251T>A (p.Cys1751Ser) c.5458T>A (p.Cys1820Ser) c.4759T>A (p.Cys1587Ser) c.5506T>A (p.Cys1836Ser) | |
16 | g.3729536T>A | CA394556149 | CREBBP | c.5511A>T (p.Lys1837Asn) c.5397A>T (p.Lys1799Asn) c.5466A>T (p.Lys1822Asn) c.5094A>T (p.Lys1698Asn) c.5250A>T (p.Lys1750Asn) c.5457A>T (p.Lys1819Asn) c.4758A>T (p.Lys1586Asn) c.5505A>T (p.Lys1835Asn) | dbSNP |
16 | g.3729536T>C | CA493394278 | CREBBP | c.5511A>G (p.Lys1837=) c.5397A>G (p.Lys1799=) c.5466A>G (p.Lys1822=) c.5094A>G (p.Lys1698=) c.5250A>G (p.Lys1750=) c.5457A>G (p.Lys1819=) c.4758A>G (p.Lys1586=) c.5505A>G (p.Lys1835=) | dbSNP |
16 | g.3729536T>G | CA394556150 | CREBBP | c.5511A>C (p.Lys1837Asn) c.5397A>C (p.Lys1799Asn) c.5466A>C (p.Lys1822Asn) c.5094A>C (p.Lys1698Asn) c.5250A>C (p.Lys1750Asn) c.5457A>C (p.Lys1819Asn) c.4758A>C (p.Lys1586Asn) c.5505A>C (p.Lys1835Asn) | dbSNP |
16 | g.3729537T>A | CA394556151 | CREBBP | c.5510A>T (p.Lys1837Ile) c.5396A>T (p.Lys1799Ile) c.5465A>T (p.Lys1822Ile) c.5093A>T (p.Lys1698Ile) c.5249A>T (p.Lys1750Ile) c.5456A>T (p.Lys1819Ile) c.4757A>T (p.Lys1586Ile) c.5504A>T (p.Lys1835Ile) | dbSNP |
16 | g.3729537T>C | CA394556152 | CREBBP | c.5510A>G (p.Lys1837Arg) c.5396A>G (p.Lys1799Arg) c.5465A>G (p.Lys1822Arg) c.5093A>G (p.Lys1698Arg) c.5249A>G (p.Lys1750Arg) c.5456A>G (p.Lys1819Arg) c.4757A>G (p.Lys1586Arg) c.5504A>G (p.Lys1835Arg) | dbSNP |
16 | g.3729537T>G | CA394556153 | CREBBP | c.5510A>C (p.Lys1837Thr) c.5396A>C (p.Lys1799Thr) c.5465A>C (p.Lys1822Thr) c.5093A>C (p.Lys1698Thr) c.5249A>C (p.Lys1750Thr) c.5456A>C (p.Lys1819Thr) c.4757A>C (p.Lys1586Thr) c.5504A>C (p.Lys1835Thr) | dbSNP |
16 | g.3729538T>A | CA394556154 | CREBBP | c.5509A>T (p.Lys1837Ter) c.5395A>T (p.Lys1799Ter) c.5464A>T (p.Lys1822Ter) c.5092A>T (p.Lys1698Ter) c.5248A>T (p.Lys1750Ter) c.5455A>T (p.Lys1819Ter) c.4756A>T (p.Lys1586Ter) c.5503A>T (p.Lys1835Ter) | |
16 | g.3729538T>C | CA394556155 | CREBBP | c.5509A>G (p.Lys1837Glu) c.5395A>G (p.Lys1799Glu) c.5464A>G (p.Lys1822Glu) c.5092A>G (p.Lys1698Glu) c.5248A>G (p.Lys1750Glu) c.5455A>G (p.Lys1819Glu) c.4756A>G (p.Lys1586Glu) c.5503A>G (p.Lys1835Glu) | dbSNP |
16 | g.3729538T>G | CA394556156 | CREBBP | c.5509A>C (p.Lys1837Gln) c.5395A>C (p.Lys1799Gln) c.5464A>C (p.Lys1822Gln) c.5092A>C (p.Lys1698Gln) c.5248A>C (p.Lys1750Gln) c.5455A>C (p.Lys1819Gln) c.4756A>C (p.Lys1586Gln) c.5503A>C (p.Lys1835Gln) | |
16 | g.3729539G>A | CA493394283 | CREBBP | c.5508C>T (p.Asn1836=) c.5394C>T (p.Asn1798=) c.5463C>T (p.Asn1821=) c.5091C>T (p.Asn1697=) c.5247C>T (p.Asn1749=) c.5454C>T (p.Asn1818=) c.4755C>T (p.Asn1585=) c.5502C>T (p.Asn1834=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729539G>C | CA394556157 | CREBBP | c.5508C>G (p.Asn1836Lys) c.5394C>G (p.Asn1798Lys) c.5463C>G (p.Asn1821Lys) c.5091C>G (p.Asn1697Lys) c.5247C>G (p.Asn1749Lys) c.5454C>G (p.Asn1818Lys) c.4755C>G (p.Asn1585Lys) c.5502C>G (p.Asn1834Lys) | |
16 | g.3729539G= | CA2202916444 | CREBBP | c.5508C= (p.Asn1836=) c.5394C= (p.Asn1798=) c.5463C= (p.Asn1821=) c.5091C= (p.Asn1697=) c.5247C= (p.Asn1749=) c.5454C= (p.Asn1818=) c.4755C= (p.Asn1585=) c.5502C= (p.Asn1834=) | |
16 | g.3729539G>T | CA394556158 | CREBBP | c.5508C>A (p.Asn1836Lys) c.5394C>A (p.Asn1798Lys) c.5463C>A (p.Asn1821Lys) c.5091C>A (p.Asn1697Lys) c.5247C>A (p.Asn1749Lys) c.5454C>A (p.Asn1818Lys) c.4755C>A (p.Asn1585Lys) c.5502C>A (p.Asn1834Lys) | |
16 | g.3729540T>A | CA394556159 | CREBBP | c.5507A>T (p.Asn1836Ile) c.5393A>T (p.Asn1798Ile) c.5462A>T (p.Asn1821Ile) c.5090A>T (p.Asn1697Ile) c.5246A>T (p.Asn1749Ile) c.5453A>T (p.Asn1818Ile) c.4754A>T (p.Asn1585Ile) c.5501A>T (p.Asn1834Ile) | dbSNP |
16 | g.3729540T>C | CA394556160 | CREBBP | c.5507A>G (p.Asn1836Ser) c.5393A>G (p.Asn1798Ser) c.5462A>G (p.Asn1821Ser) c.5090A>G (p.Asn1697Ser) c.5246A>G (p.Asn1749Ser) c.5453A>G (p.Asn1818Ser) c.4754A>G (p.Asn1585Ser) c.5501A>G (p.Asn1834Ser) | dbSNP gnomAD v2 |
16 | g.3729540T>G | CA394556161 | CREBBP | c.5507A>C (p.Asn1836Thr) c.5393A>C (p.Asn1798Thr) c.5462A>C (p.Asn1821Thr) c.5090A>C (p.Asn1697Thr) c.5246A>C (p.Asn1749Thr) c.5453A>C (p.Asn1818Thr) c.4754A>C (p.Asn1585Thr) c.5501A>C (p.Asn1834Thr) | dbSNP |
16 | g.3729540T= | CA2202916445 | CREBBP | c.5507A= (p.Asn1836=) c.5393A= (p.Asn1798=) c.5462A= (p.Asn1821=) c.5090A= (p.Asn1697=) c.5246A= (p.Asn1749=) c.5453A= (p.Asn1818=) c.4754A= (p.Asn1585=) c.5501A= (p.Asn1834=) | |
16 | g.3729541T>A | CA394556163 | CREBBP | c.5506A>T (p.Asn1836Tyr) c.5392A>T (p.Asn1798Tyr) c.5461A>T (p.Asn1821Tyr) c.5089A>T (p.Asn1697Tyr) c.5245A>T (p.Asn1749Tyr) c.5452A>T (p.Asn1818Tyr) c.4753A>T (p.Asn1585Tyr) c.5500A>T (p.Asn1834Tyr) | dbSNP |
16 | g.3729541T>C | CA394556164 | CREBBP | c.5506A>G (p.Asn1836Asp) c.5392A>G (p.Asn1798Asp) c.5461A>G (p.Asn1821Asp) c.5089A>G (p.Asn1697Asp) c.5245A>G (p.Asn1749Asp) c.5452A>G (p.Asn1818Asp) c.4753A>G (p.Asn1585Asp) c.5500A>G (p.Asn1834Asp) | |
16 | g.3729541T>G | CA394556162 | CREBBP | c.5506A>C (p.Asn1836His) c.5392A>C (p.Asn1798His) c.5461A>C (p.Asn1821His) c.5089A>C (p.Asn1697His) c.5245A>C (p.Asn1749His) c.5452A>C (p.Asn1818His) c.4753A>C (p.Asn1585His) c.5500A>C (p.Asn1834His) | dbSNP |
16 | g.3729542T>A | CA394556166 | CREBBP | c.5505A>T (p.Glu1835Asp) c.5391A>T (p.Glu1797Asp) c.5460A>T (p.Glu1820Asp) c.5088A>T (p.Glu1696Asp) c.5244A>T (p.Glu1748Asp) c.5451A>T (p.Glu1817Asp) c.4752A>T (p.Glu1584Asp) c.5499A>T (p.Glu1833Asp) | dbSNP |
16 | g.3729542T>C | CA493394289 | CREBBP | c.5505A>G (p.Glu1835=) c.5391A>G (p.Glu1797=) c.5460A>G (p.Glu1820=) c.5088A>G (p.Glu1696=) c.5244A>G (p.Glu1748=) c.5451A>G (p.Glu1817=) c.4752A>G (p.Glu1584=) c.5499A>G (p.Glu1833=) | dbSNP |
16 | g.3729542T>G | CA394556165 | CREBBP | c.5505A>C (p.Glu1835Asp) c.5391A>C (p.Glu1797Asp) c.5460A>C (p.Glu1820Asp) c.5088A>C (p.Glu1696Asp) c.5244A>C (p.Glu1748Asp) c.5451A>C (p.Glu1817Asp) c.4752A>C (p.Glu1584Asp) c.5499A>C (p.Glu1833Asp) | |
16 | g.3729543T>A | CA394556167 | CREBBP | c.5504A>T (p.Glu1835Val) c.5390A>T (p.Glu1797Val) c.5459A>T (p.Glu1820Val) c.5087A>T (p.Glu1696Val) c.5243A>T (p.Glu1748Val) c.5450A>T (p.Glu1817Val) c.4751A>T (p.Glu1584Val) c.5498A>T (p.Glu1833Val) | |
16 | g.3729543T>C | CA394556168 | CREBBP | c.5504A>G (p.Glu1835Gly) c.5390A>G (p.Glu1797Gly) c.5459A>G (p.Glu1820Gly) c.5087A>G (p.Glu1696Gly) c.5243A>G (p.Glu1748Gly) c.5450A>G (p.Glu1817Gly) c.4751A>G (p.Glu1584Gly) c.5498A>G (p.Glu1833Gly) | |
16 | g.3729543T>G | CA394556169 | CREBBP | c.5504A>C (p.Glu1835Ala) c.5390A>C (p.Glu1797Ala) c.5459A>C (p.Glu1820Ala) c.5087A>C (p.Glu1696Ala) c.5243A>C (p.Glu1748Ala) c.5450A>C (p.Glu1817Ala) c.4751A>C (p.Glu1584Ala) c.5498A>C (p.Glu1833Ala) | |
16 | g.3729544C>A | CA394556170 | CREBBP | c.5503G>T (p.Glu1835Ter) c.5389G>T (p.Glu1797Ter) c.5458G>T (p.Glu1820Ter) c.5086G>T (p.Glu1696Ter) c.5242G>T (p.Glu1748Ter) c.5449G>T (p.Glu1817Ter) c.4750G>T (p.Glu1584Ter) c.5497G>T (p.Glu1833Ter) | dbSNP |
16 | g.3729544C>G | CA394556171 | CREBBP | c.5503G>C (p.Glu1835Gln) c.5389G>C (p.Glu1797Gln) c.5458G>C (p.Glu1820Gln) c.5086G>C (p.Glu1696Gln) c.5242G>C (p.Glu1748Gln) c.5449G>C (p.Glu1817Gln) c.4750G>C (p.Glu1584Gln) c.5497G>C (p.Glu1833Gln) | dbSNP |
16 | g.3729544C>T | CA394556172 | CREBBP | c.5503G>A (p.Glu1835Lys) c.5389G>A (p.Glu1797Lys) c.5458G>A (p.Glu1820Lys) c.5086G>A (p.Glu1696Lys) c.5242G>A (p.Glu1748Lys) c.5449G>A (p.Glu1817Lys) c.4750G>A (p.Glu1584Lys) c.5497G>A (p.Glu1833Lys) | dbSNP |
16 | g.3729545T>A | CA394556173 | CREBBP | c.5502A>T (p.Gln1834His) c.5388A>T (p.Gln1796His) c.5457A>T (p.Gln1819His) c.5085A>T (p.Gln1695His) c.5241A>T (p.Gln1747His) c.5448A>T (p.Gln1816His) c.4749A>T (p.Gln1583His) c.5496A>T (p.Gln1832His) | dbSNP |
16 | g.3729545T>C | CA493394294 | CREBBP | c.5502A>G (p.Gln1834=) c.5388A>G (p.Gln1796=) c.5457A>G (p.Gln1819=) c.5085A>G (p.Gln1695=) c.5241A>G (p.Gln1747=) c.5448A>G (p.Gln1816=) c.4749A>G (p.Gln1583=) c.5496A>G (p.Gln1832=) | |
16 | g.3729545T>G | CA394556174 | CREBBP | c.5502A>C (p.Gln1834His) c.5388A>C (p.Gln1796His) c.5457A>C (p.Gln1819His) c.5085A>C (p.Gln1695His) c.5241A>C (p.Gln1747His) c.5448A>C (p.Gln1816His) c.4749A>C (p.Gln1583His) c.5496A>C (p.Gln1832His) | |
16 | g.3729546T>A | CA394556175 | CREBBP | c.5501A>T (p.Gln1834Leu) c.5387A>T (p.Gln1796Leu) c.5456A>T (p.Gln1819Leu) c.5084A>T (p.Gln1695Leu) c.5240A>T (p.Gln1747Leu) c.5447A>T (p.Gln1816Leu) c.4748A>T (p.Gln1583Leu) c.5495A>T (p.Gln1832Leu) | |
16 | g.3729546T>C | CA394556176 | CREBBP | c.5501A>G (p.Gln1834Arg) c.5387A>G (p.Gln1796Arg) c.5456A>G (p.Gln1819Arg) c.5084A>G (p.Gln1695Arg) c.5240A>G (p.Gln1747Arg) c.5447A>G (p.Gln1816Arg) c.4748A>G (p.Gln1583Arg) c.5495A>G (p.Gln1832Arg) | |
16 | g.3729546T>G | CA394556177 | CREBBP | c.5501A>C (p.Gln1834Pro) c.5387A>C (p.Gln1796Pro) c.5456A>C (p.Gln1819Pro) c.5084A>C (p.Gln1695Pro) c.5240A>C (p.Gln1747Pro) c.5447A>C (p.Gln1816Pro) c.4748A>C (p.Gln1583Pro) c.5495A>C (p.Gln1832Pro) | |
16 | g.3729547G>A | CA394556179 | CREBBP | c.5500C>T (p.Gln1834Ter) c.5386C>T (p.Gln1796Ter) c.5455C>T (p.Gln1819Ter) c.5083C>T (p.Gln1695Ter) c.5239C>T (p.Gln1747Ter) c.5446C>T (p.Gln1816Ter) c.4747C>T (p.Gln1583Ter) c.5494C>T (p.Gln1832Ter) | dbSNP |
16 | g.3729547G>C | CA394556180 | CREBBP | c.5500C>G (p.Gln1834Glu) c.5386C>G (p.Gln1796Glu) c.5455C>G (p.Gln1819Glu) c.5083C>G (p.Gln1695Glu) c.5239C>G (p.Gln1747Glu) c.5446C>G (p.Gln1816Glu) c.4747C>G (p.Gln1583Glu) c.5494C>G (p.Gln1832Glu) | dbSNP |
16 | g.3729547G>T | CA394556178 | CREBBP | c.5500C>A (p.Gln1834Lys) c.5386C>A (p.Gln1796Lys) c.5455C>A (p.Gln1819Lys) c.5083C>A (p.Gln1695Lys) c.5239C>A (p.Gln1747Lys) c.5446C>A (p.Gln1816Lys) c.4747C>A (p.Gln1583Lys) c.5494C>A (p.Gln1832Lys) | dbSNP |
16 | g.3729548G>A | CA493394301 | CREBBP | c.5499C>T (p.Cys1833=) c.5385C>T (p.Cys1795=) c.5454C>T (p.Cys1818=) c.5082C>T (p.Cys1694=) c.5238C>T (p.Cys1746=) c.5445C>T (p.Cys1815=) c.4746C>T (p.Cys1582=) c.5493C>T (p.Cys1831=) | dbSNP |
16 | g.3729548G>C | CA394556181 | CREBBP | c.5499C>G (p.Cys1833Trp) c.5385C>G (p.Cys1795Trp) c.5454C>G (p.Cys1818Trp) c.5082C>G (p.Cys1694Trp) c.5238C>G (p.Cys1746Trp) c.5445C>G (p.Cys1815Trp) c.4746C>G (p.Cys1582Trp) c.5493C>G (p.Cys1831Trp) | dbSNP |
16 | g.3729548G>T | CA394556182 | CREBBP | c.5499C>A (p.Cys1833Ter) c.5385C>A (p.Cys1795Ter) c.5454C>A (p.Cys1818Ter) c.5082C>A (p.Cys1694Ter) c.5238C>A (p.Cys1746Ter) c.5445C>A (p.Cys1815Ter) c.4746C>A (p.Cys1582Ter) c.5493C>A (p.Cys1831Ter) | dbSNP |
16 | g.3729549C>A | CA394556183 | CREBBP | c.5498G>T (p.Cys1833Phe) c.5384G>T (p.Cys1795Phe) c.5453G>T (p.Cys1818Phe) c.5081G>T (p.Cys1694Phe) c.5237G>T (p.Cys1746Phe) c.5444G>T (p.Cys1815Phe) c.4745G>T (p.Cys1582Phe) c.5492G>T (p.Cys1831Phe) | dbSNP |
16 | g.3729549C>G | CA394556184 | CREBBP | c.5498G>C (p.Cys1833Ser) c.5384G>C (p.Cys1795Ser) c.5453G>C (p.Cys1818Ser) c.5081G>C (p.Cys1694Ser) c.5237G>C (p.Cys1746Ser) c.5444G>C (p.Cys1815Ser) c.4745G>C (p.Cys1582Ser) c.5492G>C (p.Cys1831Ser) | dbSNP |
16 | g.3729549C>T | CA394556185 | CREBBP | c.5498G>A (p.Cys1833Tyr) c.5384G>A (p.Cys1795Tyr) c.5453G>A (p.Cys1818Tyr) c.5081G>A (p.Cys1694Tyr) c.5237G>A (p.Cys1746Tyr) c.5444G>A (p.Cys1815Tyr) c.4745G>A (p.Cys1582Tyr) c.5492G>A (p.Cys1831Tyr) | dbSNP |
16 | g.3729550A>C | CA394556188 | CREBBP | c.5497T>G (p.Cys1833Gly) c.5383T>G (p.Cys1795Gly) c.5452T>G (p.Cys1818Gly) c.5080T>G (p.Cys1694Gly) c.5236T>G (p.Cys1746Gly) c.5443T>G (p.Cys1815Gly) c.4744T>G (p.Cys1582Gly) c.5491T>G (p.Cys1831Gly) | |
16 | g.3729550A>G | CA394556186 | CREBBP | c.5497T>C (p.Cys1833Arg) c.5383T>C (p.Cys1795Arg) c.5452T>C (p.Cys1818Arg) c.5080T>C (p.Cys1694Arg) c.5236T>C (p.Cys1746Arg) c.5443T>C (p.Cys1815Arg) c.4744T>C (p.Cys1582Arg) c.5491T>C (p.Cys1831Arg) | dbSNP |
16 | g.3729550A>T | CA394556187 | CREBBP | c.5497T>A (p.Cys1833Ser) c.5383T>A (p.Cys1795Ser) c.5452T>A (p.Cys1818Ser) c.5080T>A (p.Cys1694Ser) c.5236T>A (p.Cys1746Ser) c.5443T>A (p.Cys1815Ser) c.4744T>A (p.Cys1582Ser) c.5491T>A (p.Cys1831Ser) | dbSNP |
16 | g.3729551G>A | CA493394302 | CREBBP | c.5496C>T (p.His1832=) c.5382C>T (p.His1794=) c.5451C>T (p.His1817=) c.5079C>T (p.His1693=) c.5235C>T (p.His1745=) c.5442C>T (p.His1814=) c.4743C>T (p.His1581=) c.5490C>T (p.His1830=) | dbSNP |
16 | g.3729551G>C | CA394556189 | CREBBP | c.5496C>G (p.His1832Gln) c.5382C>G (p.His1794Gln) c.5451C>G (p.His1817Gln) c.5079C>G (p.His1693Gln) c.5235C>G (p.His1745Gln) c.5442C>G (p.His1814Gln) c.4743C>G (p.His1581Gln) c.5490C>G (p.His1830Gln) | dbSNP |
16 | g.3729551G>T | CA394556190 | CREBBP | c.5496C>A (p.His1832Gln) c.5382C>A (p.His1794Gln) c.5451C>A (p.His1817Gln) c.5079C>A (p.His1693Gln) c.5235C>A (p.His1745Gln) c.5442C>A (p.His1814Gln) c.4743C>A (p.His1581Gln) c.5490C>A (p.His1830Gln) | |
16 | g.3729552T>A | CA394556191 | CREBBP | c.5495A>T (p.His1832Leu) c.5381A>T (p.His1794Leu) c.5450A>T (p.His1817Leu) c.5078A>T (p.His1693Leu) c.5234A>T (p.His1745Leu) c.5441A>T (p.His1814Leu) c.4742A>T (p.His1581Leu) c.5489A>T (p.His1830Leu) | dbSNP |
16 | g.3729552T>C | CA394556192 | CREBBP | c.5495A>G (p.His1832Arg) c.5381A>G (p.His1794Arg) c.5450A>G (p.His1817Arg) c.5078A>G (p.His1693Arg) c.5234A>G (p.His1745Arg) c.5441A>G (p.His1814Arg) c.4742A>G (p.His1581Arg) c.5489A>G (p.His1830Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729552T>G | CA394556193 | CREBBP | c.5495A>C (p.His1832Pro) c.5381A>C (p.His1794Pro) c.5450A>C (p.His1817Pro) c.5078A>C (p.His1693Pro) c.5234A>C (p.His1745Pro) c.5441A>C (p.His1814Pro) c.4742A>C (p.His1581Pro) c.5489A>C (p.His1830Pro) | dbSNP |
16 | g.3729552T= | CA2202916446 | CREBBP | c.5495A= (p.His1832=) c.5381A= (p.His1794=) c.5450A= (p.His1817=) c.5078A= (p.His1693=) c.5234A= (p.His1745=) c.5441A= (p.His1814=) c.4742A= (p.His1581=) c.5489A= (p.His1830=) | |
16 | g.3729553G>A | CA394556196 | CREBBP | c.5494C>T (p.His1832Tyr) c.5380C>T (p.His1794Tyr) c.5449C>T (p.His1817Tyr) c.5077C>T (p.His1693Tyr) c.5233C>T (p.His1745Tyr) c.5440C>T (p.His1814Tyr) c.4741C>T (p.His1581Tyr) c.5488C>T (p.His1830Tyr) | dbSNP gnomAD v4 |
16 | g.3729553G>C | CA394556195 | CREBBP | c.5494C>G (p.His1832Asp) c.5380C>G (p.His1794Asp) c.5449C>G (p.His1817Asp) c.5077C>G (p.His1693Asp) c.5233C>G (p.His1745Asp) c.5440C>G (p.His1814Asp) c.4741C>G (p.His1581Asp) c.5488C>G (p.His1830Asp) | dbSNP |
16 | g.3729553G>T | CA394556194 | CREBBP | c.5494C>A (p.His1832Asn) c.5380C>A (p.His1794Asn) c.5449C>A (p.His1817Asn) c.5077C>A (p.His1693Asn) c.5233C>A (p.His1745Asn) c.5440C>A (p.His1814Asn) c.4741C>A (p.His1581Asn) c.5488C>A (p.His1830Asn) | |
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=) |