Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3729456_3729476dup | CA2580091119 | CREBBP | c.5572_5592dup (p.Leu1864_Met1865insArgLeuGlnGlnAlaGlnLeu) c.5458_5478dup (p.Leu1826_Met1827insArgLeuGlnGlnAlaGlnLeu) c.5527_5547dup (p.Leu1849_Met1850insArgLeuGlnGlnAlaGlnLeu) c.5155_5175dup (p.Leu1725_Met1726insArgLeuGlnGlnAlaGlnLeu) c.5311_5331dup (p.Leu1777_Met1778insArgLeuGlnGlnAlaGlnLeu) c.5518_5538dup (p.Leu1846_Met1847insArgLeuGlnGlnAlaGlnLeu) c.4819_4839dup (p.Leu1613_Met1614insArgLeuGlnGlnAlaGlnLeu) c.5566_5586dup (p.Leu1862_Met1863insArgLeuGlnGlnAlaGlnLeu) | ClinVar |
16 | g.3729462_3729482dup | CA2580091120 | CREBBP | c.5570_5590dup (p.Gln1863_Leu1864insHisArgLeuGlnGlnAlaGln) c.5456_5476dup (p.Gln1825_Leu1826insHisArgLeuGlnGlnAlaGln) c.5525_5545dup (p.Gln1848_Leu1849insHisArgLeuGlnGlnAlaGln) c.5153_5173dup (p.Gln1724_Leu1725insHisArgLeuGlnGlnAlaGln) c.5309_5329dup (p.Gln1776_Leu1777insHisArgLeuGlnGlnAlaGln) c.5516_5536dup (p.Gln1845_Leu1846insHisArgLeuGlnGlnAlaGln) c.4817_4837dup (p.Gln1612_Leu1613insHisArgLeuGlnGlnAlaGln) c.5564_5584dup (p.Gln1861_Leu1862insHisArgLeuGlnGlnAlaGln) | ClinVar |
16 | g.3729462_3729482del | CA2695222627 | CREBBP | c.5570_5590del (p.His1857_Gln1863del) c.5456_5476del (p.His1819_Gln1825del) c.5525_5545del (p.His1842_Gln1848del) c.5153_5173del (p.His1718_Gln1724del) c.5309_5329del (p.His1770_Gln1776del) c.5516_5536del (p.His1839_Gln1845del) c.4817_4837del (p.His1606_Gln1612del) c.5564_5584del (p.His1855_Gln1861del) | |
16 | g.3729471_3729491dup | CA16620197 | CREBBP | c.5563_5583dup (p.Gln1861_Ala1862insIleGlnHisArgLeuGlnGln) c.5449_5469dup (p.Gln1823_Ala1824insIleGlnHisArgLeuGlnGln) c.5518_5538dup (p.Gln1846_Ala1847insIleGlnHisArgLeuGlnGln) c.5146_5166dup (p.Gln1722_Ala1723insIleGlnHisArgLeuGlnGln) c.5302_5322dup (p.Gln1774_Ala1775insIleGlnHisArgLeuGlnGln) c.5509_5529dup (p.Gln1843_Ala1844insIleGlnHisArgLeuGlnGln) c.4810_4830dup (p.Gln1610_Ala1611insIleGlnHisArgLeuGlnGln) c.5557_5577dup (p.Gln1859_Ala1860insIleGlnHisArgLeuGlnGln) | ClinVar dbSNP |
16 | g.3729471_3729491del | CA2695222628 | CREBBP | c.5563_5583del (p.Ile1855_Gln1861del) c.5449_5469del (p.Ile1817_Gln1823del) c.5518_5538del (p.Ile1840_Gln1846del) c.5146_5166del (p.Ile1716_Gln1722del) c.5302_5322del (p.Ile1768_Gln1774del) c.5509_5529del (p.Ile1837_Gln1843del) c.4810_4830del (p.Ile1604_Gln1610del) c.5557_5577del (p.Ile1853_Gln1859del) | |
16 | g.3729469G>A | CA394555977 | CREBBP | c.5578C>T (p.Gln1860Ter) c.5464C>T (p.Gln1822Ter) c.5533C>T (p.Gln1845Ter) c.5161C>T (p.Gln1721Ter) c.5317C>T (p.Gln1773Ter) c.5524C>T (p.Gln1842Ter) c.4825C>T (p.Gln1609Ter) c.5572C>T (p.Gln1858Ter) | dbSNP |
16 | g.3729469G>C | CA394555978 | CREBBP | c.5578C>G (p.Gln1860Glu) c.5464C>G (p.Gln1822Glu) c.5533C>G (p.Gln1845Glu) c.5161C>G (p.Gln1721Glu) c.5317C>G (p.Gln1773Glu) c.5524C>G (p.Gln1842Glu) c.4825C>G (p.Gln1609Glu) c.5572C>G (p.Gln1858Glu) | dbSNP |
16 | g.3729469G>T | CA394555979 | CREBBP | c.5578C>A (p.Gln1860Lys) c.5464C>A (p.Gln1822Lys) c.5533C>A (p.Gln1845Lys) c.5161C>A (p.Gln1721Lys) c.5317C>A (p.Gln1773Lys) c.5524C>A (p.Gln1842Lys) c.4825C>A (p.Gln1609Lys) c.5572C>A (p.Gln1858Lys) | |
16 | g.3729470C>A | CA493394025 | CREBBP | c.5577G>T (p.Leu1859=) c.5463G>T (p.Leu1821=) c.5532G>T (p.Leu1844=) c.5160G>T (p.Leu1720=) c.5316G>T (p.Leu1772=) c.5523G>T (p.Leu1841=) c.4824G>T (p.Leu1608=) c.5571G>T (p.Leu1857=) | |
16 | g.3729470C= | CA2202916417 | CREBBP | c.5577G= (p.Leu1859=) c.5463G= (p.Leu1821=) c.5532G= (p.Leu1844=) c.5160G= (p.Leu1720=) c.5316G= (p.Leu1772=) c.5523G= (p.Leu1841=) c.4824G= (p.Leu1608=) c.5571G= (p.Leu1857=) | |
16 | g.3729470C>G | CA493394026 | CREBBP | c.5577G>C (p.Leu1859=) c.5463G>C (p.Leu1821=) c.5532G>C (p.Leu1844=) c.5160G>C (p.Leu1720=) c.5316G>C (p.Leu1772=) c.5523G>C (p.Leu1841=) c.4824G>C (p.Leu1608=) c.5571G>C (p.Leu1857=) | |
16 | g.3729470C>T | CA493394027 | CREBBP | c.5577G>A (p.Leu1859=) c.5463G>A (p.Leu1821=) c.5532G>A (p.Leu1844=) c.5160G>A (p.Leu1720=) c.5316G>A (p.Leu1772=) c.5523G>A (p.Leu1841=) c.4824G>A (p.Leu1608=) c.5571G>A (p.Leu1857=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729471A>C | CA394555982 | CREBBP | c.5576T>G (p.Leu1859Arg) c.5462T>G (p.Leu1821Arg) c.5531T>G (p.Leu1844Arg) c.5159T>G (p.Leu1720Arg) c.5315T>G (p.Leu1772Arg) c.5522T>G (p.Leu1841Arg) c.4823T>G (p.Leu1608Arg) c.5570T>G (p.Leu1857Arg) | |
16 | g.3729471A>G | CA394555981 | CREBBP | c.5576T>C (p.Leu1859Pro) c.5462T>C (p.Leu1821Pro) c.5531T>C (p.Leu1844Pro) c.5159T>C (p.Leu1720Pro) c.5315T>C (p.Leu1772Pro) c.5522T>C (p.Leu1841Pro) c.4823T>C (p.Leu1608Pro) c.5570T>C (p.Leu1857Pro) | dbSNP |
16 | g.3729471A>T | CA394555980 | CREBBP | c.5576T>A (p.Leu1859Gln) c.5462T>A (p.Leu1821Gln) c.5531T>A (p.Leu1844Gln) c.5159T>A (p.Leu1720Gln) c.5315T>A (p.Leu1772Gln) c.5522T>A (p.Leu1841Gln) c.4823T>A (p.Leu1608Gln) c.5570T>A (p.Leu1857Gln) | dbSNP |
16 | g.3729472G>A | CA7869269 | CREBBP | c.5575C>T (p.Leu1859=) c.5461C>T (p.Leu1821=) c.5530C>T (p.Leu1844=) c.5158C>T (p.Leu1720=) c.5314C>T (p.Leu1772=) c.5521C>T (p.Leu1841=) c.4822C>T (p.Leu1608=) c.5569C>T (p.Leu1857=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729472G>C | CA394555983 | CREBBP | c.5575C>G (p.Leu1859Val) c.5461C>G (p.Leu1821Val) c.5530C>G (p.Leu1844Val) c.5158C>G (p.Leu1720Val) c.5314C>G (p.Leu1772Val) c.5521C>G (p.Leu1841Val) c.4822C>G (p.Leu1608Val) c.5569C>G (p.Leu1857Val) | dbSNP |
16 | g.3729472G= | CA2202916418 | CREBBP | c.5575C= (p.Leu1859=) c.5461C= (p.Leu1821=) c.5530C= (p.Leu1844=) c.5158C= (p.Leu1720=) c.5314C= (p.Leu1772=) c.5521C= (p.Leu1841=) c.4822C= (p.Leu1608=) c.5569C= (p.Leu1857=) | |
16 | g.3729472G>T | CA394555984 | CREBBP | c.5575C>A (p.Leu1859Met) c.5461C>A (p.Leu1821Met) c.5530C>A (p.Leu1844Met) c.5158C>A (p.Leu1720Met) c.5314C>A (p.Leu1772Met) c.5521C>A (p.Leu1841Met) c.4822C>A (p.Leu1608Met) c.5569C>A (p.Leu1857Met) | |
16 | g.3729477_3729497del | CA2573152061 | CREBBP | c.5555_5575del (p.Gln1852_Arg1858del) c.5441_5461del (p.Gln1814_Arg1820del) c.5510_5530del (p.Gln1837_Arg1843del) c.5138_5158del (p.Gln1713_Arg1719del) c.5294_5314del (p.Gln1765_Arg1771del) c.5501_5521del (p.Gln1834_Arg1840del) c.4802_4822del (p.Gln1601_Arg1607del) c.5549_5569del (p.Gln1850_Arg1856del) | ClinVar dbSNP |
16 | g.3729473G>A | CA493394031 | CREBBP | c.5574C>T (p.Arg1858=) c.5460C>T (p.Arg1820=) c.5529C>T (p.Arg1843=) c.5157C>T (p.Arg1719=) c.5313C>T (p.Arg1771=) c.5520C>T (p.Arg1840=) c.4821C>T (p.Arg1607=) c.5568C>T (p.Arg1856=) | dbSNP |
16 | g.3729473G>C | CA493394033 | CREBBP | c.5574C>G (p.Arg1858=) c.5460C>G (p.Arg1820=) c.5529C>G (p.Arg1843=) c.5157C>G (p.Arg1719=) c.5313C>G (p.Arg1771=) c.5520C>G (p.Arg1840=) c.4821C>G (p.Arg1607=) c.5568C>G (p.Arg1856=) | dbSNP |
16 | g.3729473G>T | CA493394034 | CREBBP | c.5574C>A (p.Arg1858=) c.5460C>A (p.Arg1820=) c.5529C>A (p.Arg1843=) c.5157C>A (p.Arg1719=) c.5313C>A (p.Arg1771=) c.5520C>A (p.Arg1840=) c.4821C>A (p.Arg1607=) c.5568C>A (p.Arg1856=) | dbSNP |
16 | g.3729474C>A | CA394555985 | CREBBP | c.5573G>T (p.Arg1858Leu) c.5459G>T (p.Arg1820Leu) c.5528G>T (p.Arg1843Leu) c.5156G>T (p.Arg1719Leu) c.5312G>T (p.Arg1771Leu) c.5519G>T (p.Arg1840Leu) c.4820G>T (p.Arg1607Leu) c.5567G>T (p.Arg1856Leu) | dbSNP |
16 | g.3729474C= | CA2202916419 | CREBBP | c.5573G= (p.Arg1858=) c.5459G= (p.Arg1820=) c.5528G= (p.Arg1843=) c.5156G= (p.Arg1719=) c.5312G= (p.Arg1771=) c.5519G= (p.Arg1840=) c.4820G= (p.Arg1607=) c.5567G= (p.Arg1856=) | |
16 | g.3729474C>G | CA394555986 | CREBBP | c.5573G>C (p.Arg1858Pro) c.5459G>C (p.Arg1820Pro) c.5528G>C (p.Arg1843Pro) c.5156G>C (p.Arg1719Pro) c.5312G>C (p.Arg1771Pro) c.5519G>C (p.Arg1840Pro) c.4820G>C (p.Arg1607Pro) c.5567G>C (p.Arg1856Pro) | ClinVar dbSNP |
16 | g.3729474C>T | CA7869270 | CREBBP | c.5573G>A (p.Arg1858His) c.5459G>A (p.Arg1820His) c.5528G>A (p.Arg1843His) c.5156G>A (p.Arg1719His) c.5312G>A (p.Arg1771His) c.5519G>A (p.Arg1840His) c.4820G>A (p.Arg1607His) c.5567G>A (p.Arg1856His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.3729475G>A | CA394555987 | CREBBP | c.5572C>T (p.Arg1858Cys) c.5458C>T (p.Arg1820Cys) c.5527C>T (p.Arg1843Cys) c.5155C>T (p.Arg1719Cys) c.5311C>T (p.Arg1771Cys) c.5518C>T (p.Arg1840Cys) c.4819C>T (p.Arg1607Cys) c.5566C>T (p.Arg1856Cys) | dbSNP gnomAD v2 |
16 | g.3729475G>C | CA394555989 | CREBBP | c.5572C>G (p.Arg1858Gly) c.5458C>G (p.Arg1820Gly) c.5527C>G (p.Arg1843Gly) c.5155C>G (p.Arg1719Gly) c.5311C>G (p.Arg1771Gly) c.5518C>G (p.Arg1840Gly) c.4819C>G (p.Arg1607Gly) c.5566C>G (p.Arg1856Gly) | dbSNP |
16 | g.3729475G= | CA2202916420 | CREBBP | c.5572C= (p.Arg1858=) c.5458C= (p.Arg1820=) c.5527C= (p.Arg1843=) c.5155C= (p.Arg1719=) c.5311C= (p.Arg1771=) c.5518C= (p.Arg1840=) c.4819C= (p.Arg1607=) c.5566C= (p.Arg1856=) | |
16 | g.3729475G>T | CA394555988 | CREBBP | c.5572C>A (p.Arg1858Ser) c.5458C>A (p.Arg1820Ser) c.5527C>A (p.Arg1843Ser) c.5155C>A (p.Arg1719Ser) c.5311C>A (p.Arg1771Ser) c.5518C>A (p.Arg1840Ser) c.4819C>A (p.Arg1607Ser) c.5566C>A (p.Arg1856Ser) | |
16 | g.3729476G>A | CA7869271 | CREBBP | c.5571C>T (p.His1857=) c.5457C>T (p.His1819=) c.5526C>T (p.His1842=) c.5154C>T (p.His1718=) c.5310C>T (p.His1770=) c.5517C>T (p.His1839=) c.4818C>T (p.His1606=) c.5565C>T (p.His1855=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729476G>C | CA394555990 | CREBBP | c.5571C>G (p.His1857Gln) c.5457C>G (p.His1819Gln) c.5526C>G (p.His1842Gln) c.5154C>G (p.His1718Gln) c.5310C>G (p.His1770Gln) c.5517C>G (p.His1839Gln) c.4818C>G (p.His1606Gln) c.5565C>G (p.His1855Gln) | dbSNP |
16 | g.3729476G= | CA2202916421 | CREBBP | c.5571C= (p.His1857=) c.5457C= (p.His1819=) c.5526C= (p.His1842=) c.5154C= (p.His1718=) c.5310C= (p.His1770=) c.5517C= (p.His1839=) c.4818C= (p.His1606=) c.5565C= (p.His1855=) | |
16 | g.3729476G>T | CA394555991 | CREBBP | c.5571C>A (p.His1857Gln) c.5457C>A (p.His1819Gln) c.5526C>A (p.His1842Gln) c.5154C>A (p.His1718Gln) c.5310C>A (p.His1770Gln) c.5517C>A (p.His1839Gln) c.4818C>A (p.His1606Gln) c.5565C>A (p.His1855Gln) | |
16 | g.3729477T>A | CA394555992 | CREBBP | c.5570A>T (p.His1857Leu) c.5456A>T (p.His1819Leu) c.5525A>T (p.His1842Leu) c.5153A>T (p.His1718Leu) c.5309A>T (p.His1770Leu) c.5516A>T (p.His1839Leu) c.4817A>T (p.His1606Leu) c.5564A>T (p.His1855Leu) | dbSNP |
16 | g.3729477T>C | CA394555993 | CREBBP | c.5570A>G (p.His1857Arg) c.5456A>G (p.His1819Arg) c.5525A>G (p.His1842Arg) c.5153A>G (p.His1718Arg) c.5309A>G (p.His1770Arg) c.5516A>G (p.His1839Arg) c.4817A>G (p.His1606Arg) c.5564A>G (p.His1855Arg) | dbSNP |
16 | g.3729477T>G | CA16620198 | CREBBP | c.5570A>C (p.His1857Pro) c.5456A>C (p.His1819Pro) c.5525A>C (p.His1842Pro) c.5153A>C (p.His1718Pro) c.5309A>C (p.His1770Pro) c.5516A>C (p.His1839Pro) c.4817A>C (p.His1606Pro) c.5564A>C (p.His1855Pro) | ClinVar dbSNP |
16 | g.3729477T= | CA2202916422 | CREBBP | c.5570A= (p.His1857=) c.5456A= (p.His1819=) c.5525A= (p.His1842=) c.5153A= (p.His1718=) c.5309A= (p.His1770=) c.5516A= (p.His1839=) c.4817A= (p.His1606=) c.5564A= (p.His1855=) | |
16 | g.3729478G>A | CA394555994 | CREBBP | c.5569C>T (p.His1857Tyr) c.5455C>T (p.His1819Tyr) c.5524C>T (p.His1842Tyr) c.5152C>T (p.His1718Tyr) c.5308C>T (p.His1770Tyr) c.5515C>T (p.His1839Tyr) c.4816C>T (p.His1606Tyr) c.5563C>T (p.His1855Tyr) | dbSNP |
16 | g.3729478G>C | CA394555995 | CREBBP | c.5569C>G (p.His1857Asp) c.5455C>G (p.His1819Asp) c.5524C>G (p.His1842Asp) c.5152C>G (p.His1718Asp) c.5308C>G (p.His1770Asp) c.5515C>G (p.His1839Asp) c.4816C>G (p.His1606Asp) c.5563C>G (p.His1855Asp) | dbSNP |
16 | g.3729478G>T | CA394555996 | CREBBP | c.5569C>A (p.His1857Asn) c.5455C>A (p.His1819Asn) c.5524C>A (p.His1842Asn) c.5152C>A (p.His1718Asn) c.5308C>A (p.His1770Asn) c.5515C>A (p.His1839Asn) c.4816C>A (p.His1606Asn) c.5563C>A (p.His1855Asn) | dbSNP |
16 | g.3729481_3729501del | CA1139654943 | CREBBP | c.5549_5569del (p.Leu1850_Gln1856del) c.5435_5455del (p.Leu1812_Gln1818del) c.5504_5524del (p.Leu1835_Gln1841del) c.5132_5152del (p.Leu1711_Gln1717del) c.5288_5308del (p.Leu1763_Gln1769del) c.5495_5515del (p.Leu1832_Gln1838del) c.4796_4816del (p.Leu1599_Gln1605del) c.5543_5563del (p.Leu1848_Gln1854del) | |
16 | g.3729479C>A | CA394555997 | CREBBP | c.5568G>T (p.Gln1856His) c.5454G>T (p.Gln1818His) c.5523G>T (p.Gln1841His) c.5151G>T (p.Gln1717His) c.5307G>T (p.Gln1769His) c.5514G>T (p.Gln1838His) c.4815G>T (p.Gln1605His) c.5562G>T (p.Gln1854His) | |
16 | g.3729479C>G | CA394555998 | CREBBP | c.5568G>C (p.Gln1856His) c.5454G>C (p.Gln1818His) c.5523G>C (p.Gln1841His) c.5151G>C (p.Gln1717His) c.5307G>C (p.Gln1769His) c.5514G>C (p.Gln1838His) c.4815G>C (p.Gln1605His) c.5562G>C (p.Gln1854His) | dbSNP |
16 | g.3729479C>T | CA493394044 | CREBBP | c.5568G>A (p.Gln1856=) c.5454G>A (p.Gln1818=) c.5523G>A (p.Gln1841=) c.5151G>A (p.Gln1717=) c.5307G>A (p.Gln1769=) c.5514G>A (p.Gln1838=) c.4815G>A (p.Gln1605=) c.5562G>A (p.Gln1854=) | dbSNP |
16 | g.3729480T>A | CA394555999 | CREBBP | c.5567A>T (p.Gln1856Leu) c.5453A>T (p.Gln1818Leu) c.5522A>T (p.Gln1841Leu) c.5150A>T (p.Gln1717Leu) c.5306A>T (p.Gln1769Leu) c.5513A>T (p.Gln1838Leu) c.4814A>T (p.Gln1605Leu) c.5561A>T (p.Gln1854Leu) | |
16 | g.3729480T>C | CA394556001 | CREBBP | c.5567A>G (p.Gln1856Arg) c.5453A>G (p.Gln1818Arg) c.5522A>G (p.Gln1841Arg) c.5150A>G (p.Gln1717Arg) c.5306A>G (p.Gln1769Arg) c.5513A>G (p.Gln1838Arg) c.4814A>G (p.Gln1605Arg) c.5561A>G (p.Gln1854Arg) | |
16 | g.3729480T>G | CA394556000 | CREBBP | c.5567A>C (p.Gln1856Pro) c.5453A>C (p.Gln1818Pro) c.5522A>C (p.Gln1841Pro) c.5150A>C (p.Gln1717Pro) c.5306A>C (p.Gln1769Pro) c.5513A>C (p.Gln1838Pro) c.4814A>C (p.Gln1605Pro) c.5561A>C (p.Gln1854Pro) | |
16 | g.3729481G>A | CA394556002 | CREBBP | c.5566C>T (p.Gln1856Ter) c.5452C>T (p.Gln1818Ter) c.5521C>T (p.Gln1841Ter) c.5149C>T (p.Gln1717Ter) c.5305C>T (p.Gln1769Ter) c.5512C>T (p.Gln1838Ter) c.4813C>T (p.Gln1605Ter) c.5560C>T (p.Gln1854Ter) | dbSNP COSMIC |
16 | g.3729481G>C | CA394556003 | CREBBP | c.5566C>G (p.Gln1856Glu) c.5452C>G (p.Gln1818Glu) c.5521C>G (p.Gln1841Glu) c.5149C>G (p.Gln1717Glu) c.5305C>G (p.Gln1769Glu) c.5512C>G (p.Gln1838Glu) c.4813C>G (p.Gln1605Glu) c.5560C>G (p.Gln1854Glu) | |
16 | g.3729481G>T | CA394556004 | CREBBP | c.5566C>A (p.Gln1856Lys) c.5452C>A (p.Gln1818Lys) c.5521C>A (p.Gln1841Lys) c.5149C>A (p.Gln1717Lys) c.5305C>A (p.Gln1769Lys) c.5512C>A (p.Gln1838Lys) c.4813C>A (p.Gln1605Lys) c.5560C>A (p.Gln1854Lys) | dbSNP |
16 | g.3729482G>A | CA493394048 | CREBBP | c.5565C>T (p.Ile1855=) c.5451C>T (p.Ile1817=) c.5520C>T (p.Ile1840=) c.5148C>T (p.Ile1716=) c.5304C>T (p.Ile1768=) c.5511C>T (p.Ile1837=) c.4812C>T (p.Ile1604=) c.5559C>T (p.Ile1853=) | dbSNP |
16 | g.3729482G>C | CA394556005 | CREBBP | c.5565C>G (p.Ile1855Met) c.5451C>G (p.Ile1817Met) c.5520C>G (p.Ile1840Met) c.5148C>G (p.Ile1716Met) c.5304C>G (p.Ile1768Met) c.5511C>G (p.Ile1837Met) c.4812C>G (p.Ile1604Met) c.5559C>G (p.Ile1853Met) | dbSNP |
16 | g.3729482G>T | CA493394049 | CREBBP | c.5565C>A (p.Ile1855=) c.5451C>A (p.Ile1817=) c.5520C>A (p.Ile1840=) c.5148C>A (p.Ile1716=) c.5304C>A (p.Ile1768=) c.5511C>A (p.Ile1837=) c.4812C>A (p.Ile1604=) c.5559C>A (p.Ile1853=) | dbSNP |
16 | g.3729483A= | CA2202916423 | CREBBP | c.5564T= (p.Ile1855=) c.5450T= (p.Ile1817=) c.5519T= (p.Ile1840=) c.5147T= (p.Ile1716=) c.5303T= (p.Ile1768=) c.5510T= (p.Ile1837=) c.4811T= (p.Ile1604=) c.5558T= (p.Ile1853=) | |
16 | g.3729483A>C | CA394556006 | CREBBP | c.5564T>G (p.Ile1855Ser) c.5450T>G (p.Ile1817Ser) c.5519T>G (p.Ile1840Ser) c.5147T>G (p.Ile1716Ser) c.5303T>G (p.Ile1768Ser) c.5510T>G (p.Ile1837Ser) c.4811T>G (p.Ile1604Ser) c.5558T>G (p.Ile1853Ser) | dbSNP |
16 | g.3729483A>G | CA394556007 | CREBBP | c.5564T>C (p.Ile1855Thr) c.5450T>C (p.Ile1817Thr) c.5519T>C (p.Ile1840Thr) c.5147T>C (p.Ile1716Thr) c.5303T>C (p.Ile1768Thr) c.5510T>C (p.Ile1837Thr) c.4811T>C (p.Ile1604Thr) c.5558T>C (p.Ile1853Thr) | dbSNP |
16 | g.3729483A>T | CA394556008 | CREBBP | c.5564T>A (p.Ile1855Asn) c.5450T>A (p.Ile1817Asn) c.5519T>A (p.Ile1840Asn) c.5147T>A (p.Ile1716Asn) c.5303T>A (p.Ile1768Asn) c.5510T>A (p.Ile1837Asn) c.4811T>A (p.Ile1604Asn) c.5558T>A (p.Ile1853Asn) | dbSNP |
16 | g.3729484T>A | CA394556009 | CREBBP | c.5563A>T (p.Ile1855Phe) c.5449A>T (p.Ile1817Phe) c.5518A>T (p.Ile1840Phe) c.5146A>T (p.Ile1716Phe) c.5302A>T (p.Ile1768Phe) c.5509A>T (p.Ile1837Phe) c.4810A>T (p.Ile1604Phe) c.5557A>T (p.Ile1853Phe) | |
16 | g.3729484T>C | CA394556010 | CREBBP | c.5563A>G (p.Ile1855Val) c.5449A>G (p.Ile1817Val) c.5518A>G (p.Ile1840Val) c.5146A>G (p.Ile1716Val) c.5302A>G (p.Ile1768Val) c.5509A>G (p.Ile1837Val) c.4810A>G (p.Ile1604Val) c.5557A>G (p.Ile1853Val) | |
16 | g.3729484T>G | CA394556011 | CREBBP | c.5563A>C (p.Ile1855Leu) c.5449A>C (p.Ile1817Leu) c.5518A>C (p.Ile1840Leu) c.5146A>C (p.Ile1716Leu) c.5302A>C (p.Ile1768Leu) c.5509A>C (p.Ile1837Leu) c.4810A>C (p.Ile1604Leu) c.5557A>C (p.Ile1853Leu) | dbSNP |
16 | g.3729485C>A | CA394556012 | CREBBP | c.5562G>T (p.Gln1854His) c.5448G>T (p.Gln1816His) c.5517G>T (p.Gln1839His) c.5145G>T (p.Gln1715His) c.5301G>T (p.Gln1767His) c.5508G>T (p.Gln1836His) c.4809G>T (p.Gln1603His) c.5556G>T (p.Gln1852His) | dbSNP |
16 | g.3729485C= | CA2202916424 | CREBBP | c.5562G= (p.Gln1854=) c.5448G= (p.Gln1816=) c.5517G= (p.Gln1839=) c.5145G= (p.Gln1715=) c.5301G= (p.Gln1767=) c.5508G= (p.Gln1836=) c.4809G= (p.Gln1603=) c.5556G= (p.Gln1852=) | |
16 | g.3729485C>G | CA394556013 | CREBBP | c.5562G>C (p.Gln1854His) c.5448G>C (p.Gln1816His) c.5517G>C (p.Gln1839His) c.5145G>C (p.Gln1715His) c.5301G>C (p.Gln1767His) c.5508G>C (p.Gln1836His) c.4809G>C (p.Gln1603His) c.5556G>C (p.Gln1852His) | dbSNP |
16 | g.3729485C>T | CA493394050 | CREBBP | c.5562G>A (p.Gln1854=) c.5448G>A (p.Gln1816=) c.5517G>A (p.Gln1839=) c.5145G>A (p.Gln1715=) c.5301G>A (p.Gln1767=) c.5508G>A (p.Gln1836=) c.4809G>A (p.Gln1603=) c.5556G>A (p.Gln1852=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729486T>A | CA394556016 | CREBBP | c.5561A>T (p.Gln1854Leu) c.5447A>T (p.Gln1816Leu) c.5516A>T (p.Gln1839Leu) c.5144A>T (p.Gln1715Leu) c.5300A>T (p.Gln1767Leu) c.5507A>T (p.Gln1836Leu) c.4808A>T (p.Gln1603Leu) c.5555A>T (p.Gln1852Leu) | dbSNP |
16 | g.3729486T>C | CA394556014 | CREBBP | c.5561A>G (p.Gln1854Arg) c.5447A>G (p.Gln1816Arg) c.5516A>G (p.Gln1839Arg) c.5144A>G (p.Gln1715Arg) c.5300A>G (p.Gln1767Arg) c.5507A>G (p.Gln1836Arg) c.4808A>G (p.Gln1603Arg) c.5555A>G (p.Gln1852Arg) | dbSNP |
16 | g.3729486T>G | CA394556015 | CREBBP | c.5561A>C (p.Gln1854Pro) c.5447A>C (p.Gln1816Pro) c.5516A>C (p.Gln1839Pro) c.5144A>C (p.Gln1715Pro) c.5300A>C (p.Gln1767Pro) c.5507A>C (p.Gln1836Pro) c.4808A>C (p.Gln1603Pro) c.5555A>C (p.Gln1852Pro) | ClinVar dbSNP |
16 | g.3729486T= | CA2202916425 | CREBBP | c.5561A= (p.Gln1854=) c.5447A= (p.Gln1816=) c.5516A= (p.Gln1839=) c.5144A= (p.Gln1715=) c.5300A= (p.Gln1767=) c.5507A= (p.Gln1836=) c.4808A= (p.Gln1603=) c.5555A= (p.Gln1852=) | |
16 | g.3729487G>A | CA394556017 | CREBBP | c.5560C>T (p.Gln1854Ter) c.5446C>T (p.Gln1816Ter) c.5515C>T (p.Gln1839Ter) c.5143C>T (p.Gln1715Ter) c.5299C>T (p.Gln1767Ter) c.5506C>T (p.Gln1836Ter) c.4807C>T (p.Gln1603Ter) c.5554C>T (p.Gln1852Ter) | dbSNP COSMIC |
16 | g.3729487G>C | CA394556018 | CREBBP | c.5560C>G (p.Gln1854Glu) c.5446C>G (p.Gln1816Glu) c.5515C>G (p.Gln1839Glu) c.5143C>G (p.Gln1715Glu) c.5299C>G (p.Gln1767Glu) c.5506C>G (p.Gln1836Glu) c.4807C>G (p.Gln1603Glu) c.5554C>G (p.Gln1852Glu) | dbSNP |
16 | g.3729487G>T | CA394556019 | CREBBP | c.5560C>A (p.Gln1854Lys) c.5446C>A (p.Gln1816Lys) c.5515C>A (p.Gln1839Lys) c.5143C>A (p.Gln1715Lys) c.5299C>A (p.Gln1767Lys) c.5506C>A (p.Gln1836Lys) c.4807C>A (p.Gln1603Lys) c.5554C>A (p.Gln1852Lys) | |
16 | g.3729488C>A | CA394556020 | CREBBP | c.5559G>T (p.Gln1853His) c.5445G>T (p.Gln1815His) c.5514G>T (p.Gln1838His) c.5142G>T (p.Gln1714His) c.5298G>T (p.Gln1766His) c.5505G>T (p.Gln1835His) c.4806G>T (p.Gln1602His) c.5553G>T (p.Gln1851His) | |
16 | g.3729488C>G | CA394556021 | CREBBP | c.5559G>C (p.Gln1853His) c.5445G>C (p.Gln1815His) c.5514G>C (p.Gln1838His) c.5142G>C (p.Gln1714His) c.5298G>C (p.Gln1766His) c.5505G>C (p.Gln1835His) c.4806G>C (p.Gln1602His) c.5553G>C (p.Gln1851His) | dbSNP gnomAD v4 |
16 | g.3729488C>T | CA493394055 | CREBBP | c.5559G>A (p.Gln1853=) c.5445G>A (p.Gln1815=) c.5514G>A (p.Gln1838=) c.5142G>A (p.Gln1714=) c.5298G>A (p.Gln1766=) c.5505G>A (p.Gln1835=) c.4806G>A (p.Gln1602=) c.5553G>A (p.Gln1851=) | dbSNP gnomAD v4 |
16 | g.3729489T>A | CA276972201 | CREBBP | c.5558A>T (p.Gln1853Leu) c.5444A>T (p.Gln1815Leu) c.5513A>T (p.Gln1838Leu) c.5141A>T (p.Gln1714Leu) c.5297A>T (p.Gln1766Leu) c.5504A>T (p.Gln1835Leu) c.4805A>T (p.Gln1602Leu) c.5552A>T (p.Gln1851Leu) | dbSNP |
16 | g.3729489T>C | CA394556022 | CREBBP | c.5558A>G (p.Gln1853Arg) c.5444A>G (p.Gln1815Arg) c.5513A>G (p.Gln1838Arg) c.5141A>G (p.Gln1714Arg) c.5297A>G (p.Gln1766Arg) c.5504A>G (p.Gln1835Arg) c.4805A>G (p.Gln1602Arg) c.5552A>G (p.Gln1851Arg) | |
16 | g.3729489T>G | CA394556023 | CREBBP | c.5558A>C (p.Gln1853Pro) c.5444A>C (p.Gln1815Pro) c.5513A>C (p.Gln1838Pro) c.5141A>C (p.Gln1714Pro) c.5297A>C (p.Gln1766Pro) c.5504A>C (p.Gln1835Pro) c.4805A>C (p.Gln1602Pro) c.5552A>C (p.Gln1851Pro) | ClinVar |
16 | g.3729489T= | CA2202916426 | CREBBP | c.5558A= (p.Gln1853=) c.5444A= (p.Gln1815=) c.5513A= (p.Gln1838=) c.5141A= (p.Gln1714=) c.5297A= (p.Gln1766=) c.5504A= (p.Gln1835=) c.4805A= (p.Gln1602=) c.5552A= (p.Gln1851=) | |
16 | g.3729490G>A | CA394556024 | CREBBP | c.5557C>T (p.Gln1853Ter) c.5443C>T (p.Gln1815Ter) c.5512C>T (p.Gln1838Ter) c.5140C>T (p.Gln1714Ter) c.5296C>T (p.Gln1766Ter) c.5503C>T (p.Gln1835Ter) c.4804C>T (p.Gln1602Ter) c.5551C>T (p.Gln1851Ter) | dbSNP |
16 | g.3729490G>C | CA394556025 | CREBBP | c.5557C>G (p.Gln1853Glu) c.5443C>G (p.Gln1815Glu) c.5512C>G (p.Gln1838Glu) c.5140C>G (p.Gln1714Glu) c.5296C>G (p.Gln1766Glu) c.5503C>G (p.Gln1835Glu) c.4804C>G (p.Gln1602Glu) c.5551C>G (p.Gln1851Glu) | ClinVar dbSNP |
16 | g.3729490G>T | CA394556026 | CREBBP | c.5557C>A (p.Gln1853Lys) c.5443C>A (p.Gln1815Lys) c.5512C>A (p.Gln1838Lys) c.5140C>A (p.Gln1714Lys) c.5296C>A (p.Gln1766Lys) c.5503C>A (p.Gln1835Lys) c.4804C>A (p.Gln1602Lys) c.5551C>A (p.Gln1851Lys) | |
16 | g.3729491C>A | CA394556028 | CREBBP | c.5556G>T (p.Gln1852His) c.5442G>T (p.Gln1814His) c.5511G>T (p.Gln1837His) c.5139G>T (p.Gln1713His) c.5295G>T (p.Gln1765His) c.5502G>T (p.Gln1834His) c.4803G>T (p.Gln1601His) c.5550G>T (p.Gln1850His) | dbSNP |
16 | g.3729491C= | CA2202916427 | CREBBP | c.5556G= (p.Gln1852=) c.5442G= (p.Gln1814=) c.5511G= (p.Gln1837=) c.5139G= (p.Gln1713=) c.5295G= (p.Gln1765=) c.5502G= (p.Gln1834=) c.4803G= (p.Gln1601=) c.5550G= (p.Gln1850=) | |
16 | g.3729491C>G | CA394556027 | CREBBP | c.5556G>C (p.Gln1852His) c.5442G>C (p.Gln1814His) c.5511G>C (p.Gln1837His) c.5139G>C (p.Gln1713His) c.5295G>C (p.Gln1765His) c.5502G>C (p.Gln1834His) c.4803G>C (p.Gln1601His) c.5550G>C (p.Gln1850His) | dbSNP |
16 | g.3729491C>T | CA493394059 | CREBBP | c.5556G>A (p.Gln1852=) c.5442G>A (p.Gln1814=) c.5511G>A (p.Gln1837=) c.5139G>A (p.Gln1713=) c.5295G>A (p.Gln1765=) c.5502G>A (p.Gln1834=) c.4803G>A (p.Gln1601=) c.5550G>A (p.Gln1850=) | dbSNP |
16 | g.3729492T>A | CA394556029 | CREBBP | c.5555A>T (p.Gln1852Leu) c.5441A>T (p.Gln1814Leu) c.5510A>T (p.Gln1837Leu) c.5138A>T (p.Gln1713Leu) c.5294A>T (p.Gln1765Leu) c.5501A>T (p.Gln1834Leu) c.4802A>T (p.Gln1601Leu) c.5549A>T (p.Gln1850Leu) | |
16 | g.3729492T>C | CA394556030 | CREBBP | c.5555A>G (p.Gln1852Arg) c.5441A>G (p.Gln1814Arg) c.5510A>G (p.Gln1837Arg) c.5138A>G (p.Gln1713Arg) c.5294A>G (p.Gln1765Arg) c.5501A>G (p.Gln1834Arg) c.4802A>G (p.Gln1601Arg) c.5549A>G (p.Gln1850Arg) | |
16 | g.3729492T>G | CA394556031 | CREBBP | c.5555A>C (p.Gln1852Pro) c.5441A>C (p.Gln1814Pro) c.5510A>C (p.Gln1837Pro) c.5138A>C (p.Gln1713Pro) c.5294A>C (p.Gln1765Pro) c.5501A>C (p.Gln1834Pro) c.4802A>C (p.Gln1601Pro) c.5549A>C (p.Gln1850Pro) | |
16 | g.3729493G>A | CA394556032 | CREBBP | c.5554C>T (p.Gln1852Ter) c.5440C>T (p.Gln1814Ter) c.5509C>T (p.Gln1837Ter) c.5137C>T (p.Gln1713Ter) c.5293C>T (p.Gln1765Ter) c.5500C>T (p.Gln1834Ter) c.4801C>T (p.Gln1601Ter) c.5548C>T (p.Gln1850Ter) | dbSNP |
16 | g.3729493G>C | CA394556033 | CREBBP | c.5554C>G (p.Gln1852Glu) c.5440C>G (p.Gln1814Glu) c.5509C>G (p.Gln1837Glu) c.5137C>G (p.Gln1713Glu) c.5293C>G (p.Gln1765Glu) c.5500C>G (p.Gln1834Glu) c.4801C>G (p.Gln1601Glu) c.5548C>G (p.Gln1850Glu) | |
16 | g.3729493G>T | CA394556034 | CREBBP | c.5554C>A (p.Gln1852Lys) c.5440C>A (p.Gln1814Lys) c.5509C>A (p.Gln1837Lys) c.5137C>A (p.Gln1713Lys) c.5293C>A (p.Gln1765Lys) c.5500C>A (p.Gln1834Lys) c.4801C>A (p.Gln1601Lys) c.5548C>A (p.Gln1850Lys) | dbSNP |
16 | g.3729494G>A | CA493394065 | CREBBP | c.5553C>T (p.Arg1851=) c.5439C>T (p.Arg1813=) c.5508C>T (p.Arg1836=) c.5136C>T (p.Arg1712=) c.5292C>T (p.Arg1764=) c.5499C>T (p.Arg1833=) c.4800C>T (p.Arg1600=) c.5547C>T (p.Arg1849=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729494G>C | CA493394066 | CREBBP | c.5553C>G (p.Arg1851=) c.5439C>G (p.Arg1813=) c.5508C>G (p.Arg1836=) c.5136C>G (p.Arg1712=) c.5292C>G (p.Arg1764=) c.5499C>G (p.Arg1833=) c.4800C>G (p.Arg1600=) c.5547C>G (p.Arg1849=) | dbSNP |
16 | g.3729494G= | CA2202916428 | CREBBP | c.5553C= (p.Arg1851=) c.5439C= (p.Arg1813=) c.5508C= (p.Arg1836=) c.5136C= (p.Arg1712=) c.5292C= (p.Arg1764=) c.5499C= (p.Arg1833=) c.4800C= (p.Arg1600=) c.5547C= (p.Arg1849=) | |
16 | g.3729494G>T | CA493394067 | CREBBP | c.5553C>A (p.Arg1851=) c.5439C>A (p.Arg1813=) c.5508C>A (p.Arg1836=) c.5136C>A (p.Arg1712=) c.5292C>A (p.Arg1764=) c.5499C>A (p.Arg1833=) c.4800C>A (p.Arg1600=) c.5547C>A (p.Arg1849=) | dbSNP |
16 | g.3729495C>A | CA394556035 | CREBBP | c.5552G>T (p.Arg1851Leu) c.5438G>T (p.Arg1813Leu) c.5507G>T (p.Arg1836Leu) c.5135G>T (p.Arg1712Leu) c.5291G>T (p.Arg1764Leu) c.5498G>T (p.Arg1833Leu) c.4799G>T (p.Arg1600Leu) c.5546G>T (p.Arg1849Leu) | |
16 | g.3729495C= | CA2202916429 | CREBBP | c.5552G= (p.Arg1851=) c.5438G= (p.Arg1813=) c.5507G= (p.Arg1836=) c.5135G= (p.Arg1712=) c.5291G= (p.Arg1764=) c.5498G= (p.Arg1833=) c.4799G= (p.Arg1600=) c.5546G= (p.Arg1849=) | |
16 | g.3729495C>G | CA394556036 | CREBBP | c.5552G>C (p.Arg1851Pro) c.5438G>C (p.Arg1813Pro) c.5507G>C (p.Arg1836Pro) c.5135G>C (p.Arg1712Pro) c.5291G>C (p.Arg1764Pro) c.5498G>C (p.Arg1833Pro) c.4799G>C (p.Arg1600Pro) c.5546G>C (p.Arg1849Pro) | |
16 | g.3729495C>T | CA276972205 | CREBBP | c.5552G>A (p.Arg1851His) c.5438G>A (p.Arg1813His) c.5507G>A (p.Arg1836His) c.5135G>A (p.Arg1712His) c.5291G>A (p.Arg1764His) c.5498G>A (p.Arg1833His) c.4799G>A (p.Arg1600His) c.5546G>A (p.Arg1849His) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729496G>A | CA7869272 | CREBBP | c.5551C>T (p.Arg1851Cys) c.5437C>T (p.Arg1813Cys) c.5506C>T (p.Arg1836Cys) c.5134C>T (p.Arg1712Cys) c.5290C>T (p.Arg1764Cys) c.5497C>T (p.Arg1833Cys) c.4798C>T (p.Arg1600Cys) c.5545C>T (p.Arg1849Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729496G>C | CA394556037 | CREBBP | c.5551C>G (p.Arg1851Gly) c.5437C>G (p.Arg1813Gly) c.5506C>G (p.Arg1836Gly) c.5134C>G (p.Arg1712Gly) c.5290C>G (p.Arg1764Gly) c.5497C>G (p.Arg1833Gly) c.4798C>G (p.Arg1600Gly) c.5545C>G (p.Arg1849Gly) | |
16 | g.3729496G= | CA2202916430 | CREBBP | c.5551C= (p.Arg1851=) c.5437C= (p.Arg1813=) c.5506C= (p.Arg1836=) c.5134C= (p.Arg1712=) c.5290C= (p.Arg1764=) c.5497C= (p.Arg1833=) c.4798C= (p.Arg1600=) c.5545C= (p.Arg1849=) | |
16 | g.3729496G>T | CA394556038 | CREBBP | c.5551C>A (p.Arg1851Ser) c.5437C>A (p.Arg1813Ser) c.5506C>A (p.Arg1836Ser) c.5134C>A (p.Arg1712Ser) c.5290C>A (p.Arg1764Ser) c.5497C>A (p.Arg1833Ser) c.4798C>A (p.Arg1600Ser) c.5545C>A (p.Arg1849Ser) | |
16 | g.3729497G>A | CA7869273 | CREBBP | c.5550C>T (p.Leu1850=) c.5436C>T (p.Leu1812=) c.5505C>T (p.Leu1835=) c.5133C>T (p.Leu1711=) c.5289C>T (p.Leu1763=) c.5496C>T (p.Leu1832=) c.4797C>T (p.Leu1599=) c.5544C>T (p.Leu1848=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729497G>C | CA493394069 | CREBBP | c.5550C>G (p.Leu1850=) c.5436C>G (p.Leu1812=) c.5505C>G (p.Leu1835=) c.5133C>G (p.Leu1711=) c.5289C>G (p.Leu1763=) c.5496C>G (p.Leu1832=) c.4797C>G (p.Leu1599=) c.5544C>G (p.Leu1848=) | dbSNP |
16 | g.3729497G= | CA2202916431 | CREBBP | c.5550C= (p.Leu1850=) c.5436C= (p.Leu1812=) c.5505C= (p.Leu1835=) c.5133C= (p.Leu1711=) c.5289C= (p.Leu1763=) c.5496C= (p.Leu1832=) c.4797C= (p.Leu1599=) c.5544C= (p.Leu1848=) | |
16 | g.3729497G>T | CA493394071 | CREBBP | c.5550C>A (p.Leu1850=) c.5436C>A (p.Leu1812=) c.5505C>A (p.Leu1835=) c.5133C>A (p.Leu1711=) c.5289C>A (p.Leu1763=) c.5496C>A (p.Leu1832=) c.4797C>A (p.Leu1599=) c.5544C>A (p.Leu1848=) | dbSNP |
16 | g.3729498A= | CA2202916432 | CREBBP | c.5549T= (p.Leu1850=) c.5435T= (p.Leu1812=) c.5504T= (p.Leu1835=) c.5132T= (p.Leu1711=) c.5288T= (p.Leu1763=) c.5495T= (p.Leu1832=) c.4796T= (p.Leu1599=) c.5543T= (p.Leu1848=) | |
16 | g.3729498A>C | CA394556041 | CREBBP | c.5549T>G (p.Leu1850Arg) c.5435T>G (p.Leu1812Arg) c.5504T>G (p.Leu1835Arg) c.5132T>G (p.Leu1711Arg) c.5288T>G (p.Leu1763Arg) c.5495T>G (p.Leu1832Arg) c.4796T>G (p.Leu1599Arg) c.5543T>G (p.Leu1848Arg) | |
16 | g.3729498A>G | CA394556040 | CREBBP | c.5549T>C (p.Leu1850Pro) c.5435T>C (p.Leu1812Pro) c.5504T>C (p.Leu1835Pro) c.5132T>C (p.Leu1711Pro) c.5288T>C (p.Leu1763Pro) c.5495T>C (p.Leu1832Pro) c.4796T>C (p.Leu1599Pro) c.5543T>C (p.Leu1848Pro) | ClinVar dbSNP |
16 | g.3729498A>T | CA394556039 | CREBBP | c.5549T>A (p.Leu1850His) c.5435T>A (p.Leu1812His) c.5504T>A (p.Leu1835His) c.5132T>A (p.Leu1711His) c.5288T>A (p.Leu1763His) c.5495T>A (p.Leu1832His) c.4796T>A (p.Leu1599His) c.5543T>A (p.Leu1848His) | dbSNP |
16 | g.3729499G>A | CA394556042 | CREBBP | c.5548C>T (p.Leu1850Phe) c.5434C>T (p.Leu1812Phe) c.5503C>T (p.Leu1835Phe) c.5131C>T (p.Leu1711Phe) c.5287C>T (p.Leu1763Phe) c.5494C>T (p.Leu1832Phe) c.4795C>T (p.Leu1599Phe) c.5542C>T (p.Leu1848Phe) | |
16 | g.3729499G>C | CA394556043 | CREBBP | c.5548C>G (p.Leu1850Val) c.5434C>G (p.Leu1812Val) c.5503C>G (p.Leu1835Val) c.5131C>G (p.Leu1711Val) c.5287C>G (p.Leu1763Val) c.5494C>G (p.Leu1832Val) c.4795C>G (p.Leu1599Val) c.5542C>G (p.Leu1848Val) | dbSNP |
16 | g.3729499G>T | CA394556044 | CREBBP | c.5548C>A (p.Leu1850Ile) c.5434C>A (p.Leu1812Ile) c.5503C>A (p.Leu1835Ile) c.5131C>A (p.Leu1711Ile) c.5287C>A (p.Leu1763Ile) c.5494C>A (p.Leu1832Ile) c.4795C>A (p.Leu1599Ile) c.5542C>A (p.Leu1848Ile) | dbSNP |
16 | g.3729500C>A | CA394556045 | CREBBP | c.5547G>T (p.Lys1849Asn) c.5433G>T (p.Lys1811Asn) c.5502G>T (p.Lys1834Asn) c.5130G>T (p.Lys1710Asn) c.5286G>T (p.Lys1762Asn) c.5493G>T (p.Lys1831Asn) c.4794G>T (p.Lys1598Asn) c.5541G>T (p.Lys1847Asn) | dbSNP |
16 | g.3729500C= | CA2202916433 | CREBBP | c.5547G= (p.Lys1849=) c.5433G= (p.Lys1811=) c.5502G= (p.Lys1834=) c.5130G= (p.Lys1710=) c.5286G= (p.Lys1762=) c.5493G= (p.Lys1831=) c.4794G= (p.Lys1598=) c.5541G= (p.Lys1847=) | |
16 | g.3729500C>G | CA394556046 | CREBBP | c.5547G>C (p.Lys1849Asn) c.5433G>C (p.Lys1811Asn) c.5502G>C (p.Lys1834Asn) c.5130G>C (p.Lys1710Asn) c.5286G>C (p.Lys1762Asn) c.5493G>C (p.Lys1831Asn) c.4794G>C (p.Lys1598Asn) c.5541G>C (p.Lys1847Asn) | dbSNP |
16 | g.3729500C>T | CA493394075 | CREBBP | c.5547G>A (p.Lys1849=) c.5433G>A (p.Lys1811=) c.5502G>A (p.Lys1834=) c.5130G>A (p.Lys1710=) c.5286G>A (p.Lys1762=) c.5493G>A (p.Lys1831=) c.4794G>A (p.Lys1598=) c.5541G>A (p.Lys1847=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729501T>A | CA394556047 | CREBBP | c.5546A>T (p.Lys1849Met) c.5432A>T (p.Lys1811Met) c.5501A>T (p.Lys1834Met) c.5129A>T (p.Lys1710Met) c.5285A>T (p.Lys1762Met) c.5492A>T (p.Lys1831Met) c.4793A>T (p.Lys1598Met) c.5540A>T (p.Lys1847Met) | dbSNP |
16 | g.3729501T>C | CA394556048 | CREBBP | c.5546A>G (p.Lys1849Arg) c.5432A>G (p.Lys1811Arg) c.5501A>G (p.Lys1834Arg) c.5129A>G (p.Lys1710Arg) c.5285A>G (p.Lys1762Arg) c.5492A>G (p.Lys1831Arg) c.4793A>G (p.Lys1598Arg) c.5540A>G (p.Lys1847Arg) | dbSNP |
16 | g.3729501T>G | CA394556049 | CREBBP | c.5546A>C (p.Lys1849Thr) c.5432A>C (p.Lys1811Thr) c.5501A>C (p.Lys1834Thr) c.5129A>C (p.Lys1710Thr) c.5285A>C (p.Lys1762Thr) c.5492A>C (p.Lys1831Thr) c.4793A>C (p.Lys1598Thr) c.5540A>C (p.Lys1847Thr) | dbSNP |
16 | g.3729502T>A | CA394556050 | CREBBP | c.5545A>T (p.Lys1849Ter) c.5431A>T (p.Lys1811Ter) c.5500A>T (p.Lys1834Ter) c.5128A>T (p.Lys1710Ter) c.5284A>T (p.Lys1762Ter) c.5491A>T (p.Lys1831Ter) c.4792A>T (p.Lys1598Ter) c.5539A>T (p.Lys1847Ter) | dbSNP COSMIC |
16 | g.3729502T>C | CA394556051 | CREBBP | c.5545A>G (p.Lys1849Glu) c.5431A>G (p.Lys1811Glu) c.5500A>G (p.Lys1834Glu) c.5128A>G (p.Lys1710Glu) c.5284A>G (p.Lys1762Glu) c.5491A>G (p.Lys1831Glu) c.4792A>G (p.Lys1598Glu) c.5539A>G (p.Lys1847Glu) | dbSNP |
16 | g.3729502T>G | CA394556052 | CREBBP | c.5545A>C (p.Lys1849Gln) c.5431A>C (p.Lys1811Gln) c.5500A>C (p.Lys1834Gln) c.5128A>C (p.Lys1710Gln) c.5284A>C (p.Lys1762Gln) c.5491A>C (p.Lys1831Gln) c.4792A>C (p.Lys1598Gln) c.5539A>C (p.Lys1847Gln) | gnomAD v4 |
16 | g.3729503G>A | CA7869274 | CREBBP | c.5544C>T (p.His1848=) c.5430C>T (p.His1810=) c.5499C>T (p.His1833=) c.5127C>T (p.His1709=) c.5283C>T (p.His1761=) c.5490C>T (p.His1830=) c.4791C>T (p.His1597=) c.5538C>T (p.His1846=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729503G>C | CA394556053 | CREBBP | c.5544C>G (p.His1848Gln) c.5430C>G (p.His1810Gln) c.5499C>G (p.His1833Gln) c.5127C>G (p.His1709Gln) c.5283C>G (p.His1761Gln) c.5490C>G (p.His1830Gln) c.4791C>G (p.His1597Gln) c.5538C>G (p.His1846Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729503G= | CA2202916434 | CREBBP | c.5544C= (p.His1848=) c.5430C= (p.His1810=) c.5499C= (p.His1833=) c.5127C= (p.His1709=) c.5283C= (p.His1761=) c.5490C= (p.His1830=) c.4791C= (p.His1597=) c.5538C= (p.His1846=) | |
16 | g.3729503G>T | CA394556054 | CREBBP | c.5544C>A (p.His1848Gln) c.5430C>A (p.His1810Gln) c.5499C>A (p.His1833Gln) c.5127C>A (p.His1709Gln) c.5283C>A (p.His1761Gln) c.5490C>A (p.His1830Gln) c.4791C>A (p.His1597Gln) c.5538C>A (p.His1846Gln) | dbSNP |
16 | g.3729504T>A | CA394556056 | CREBBP | c.5543A>T (p.His1848Leu) c.5429A>T (p.His1810Leu) c.5498A>T (p.His1833Leu) c.5126A>T (p.His1709Leu) c.5282A>T (p.His1761Leu) c.5489A>T (p.His1830Leu) c.4790A>T (p.His1597Leu) c.5537A>T (p.His1846Leu) | dbSNP |
16 | g.3729504T>C | CA394556057 | CREBBP | c.5543A>G (p.His1848Arg) c.5429A>G (p.His1810Arg) c.5498A>G (p.His1833Arg) c.5126A>G (p.His1709Arg) c.5282A>G (p.His1761Arg) c.5489A>G (p.His1830Arg) c.4790A>G (p.His1597Arg) c.5537A>G (p.His1846Arg) | dbSNP |
16 | g.3729504T>G | CA394556055 | CREBBP | c.5543A>C (p.His1848Pro) c.5429A>C (p.His1810Pro) c.5498A>C (p.His1833Pro) c.5126A>C (p.His1709Pro) c.5282A>C (p.His1761Pro) c.5489A>C (p.His1830Pro) c.4790A>C (p.His1597Pro) c.5537A>C (p.His1846Pro) | dbSNP |
16 | g.3729505G>A | CA394556058 | CREBBP | c.5542C>T (p.His1848Tyr) c.5428C>T (p.His1810Tyr) c.5497C>T (p.His1833Tyr) c.5125C>T (p.His1709Tyr) c.5281C>T (p.His1761Tyr) c.5488C>T (p.His1830Tyr) c.4789C>T (p.His1597Tyr) c.5536C>T (p.His1846Tyr) | dbSNP gnomAD v4 |
16 | g.3729505G>C | CA394556059 | CREBBP | c.5542C>G (p.His1848Asp) c.5428C>G (p.His1810Asp) c.5497C>G (p.His1833Asp) c.5125C>G (p.His1709Asp) c.5281C>G (p.His1761Asp) c.5488C>G (p.His1830Asp) c.4789C>G (p.His1597Asp) c.5536C>G (p.His1846Asp) | |
16 | g.3729505G= | CA2202916435 | CREBBP | c.5542C= (p.His1848=) c.5428C= (p.His1810=) c.5497C= (p.His1833=) c.5125C= (p.His1709=) c.5281C= (p.His1761=) c.5488C= (p.His1830=) c.4789C= (p.His1597=) c.5536C= (p.His1846=) | |
16 | g.3729505G>T | CA394556060 | CREBBP | c.5542C>A (p.His1848Asn) c.5428C>A (p.His1810Asn) c.5497C>A (p.His1833Asn) c.5125C>A (p.His1709Asn) c.5281C>A (p.His1761Asn) c.5488C>A (p.His1830Asn) c.4789C>A (p.His1597Asn) c.5536C>A (p.His1846Asn) | |
16 | g.3729506T>A | CA394556061 | CREBBP | c.5541A>T (p.Lys1847Asn) c.5427A>T (p.Lys1809Asn) c.5496A>T (p.Lys1832Asn) c.5124A>T (p.Lys1708Asn) c.5280A>T (p.Lys1760Asn) c.5487A>T (p.Lys1829Asn) c.4788A>T (p.Lys1596Asn) c.5535A>T (p.Lys1845Asn) | dbSNP |
16 | g.3729506T>C | CA493394084 | CREBBP | c.5541A>G (p.Lys1847=) c.5427A>G (p.Lys1809=) c.5496A>G (p.Lys1832=) c.5124A>G (p.Lys1708=) c.5280A>G (p.Lys1760=) c.5487A>G (p.Lys1829=) c.4788A>G (p.Lys1596=) c.5535A>G (p.Lys1845=) | |
16 | g.3729506T>G | CA394556062 | CREBBP | c.5541A>C (p.Lys1847Asn) c.5427A>C (p.Lys1809Asn) c.5496A>C (p.Lys1832Asn) c.5124A>C (p.Lys1708Asn) c.5280A>C (p.Lys1760Asn) c.5487A>C (p.Lys1829Asn) c.4788A>C (p.Lys1596Asn) c.5535A>C (p.Lys1845Asn) | dbSNP |
16 | g.3729507T>A | CA394556063 | CREBBP | c.5540A>T (p.Lys1847Ile) c.5426A>T (p.Lys1809Ile) c.5495A>T (p.Lys1832Ile) c.5123A>T (p.Lys1708Ile) c.5279A>T (p.Lys1760Ile) c.5486A>T (p.Lys1829Ile) c.4787A>T (p.Lys1596Ile) c.5534A>T (p.Lys1845Ile) | dbSNP |
16 | g.3729507T>C | CA394556064 | CREBBP | c.5540A>G (p.Lys1847Arg) c.5426A>G (p.Lys1809Arg) c.5495A>G (p.Lys1832Arg) c.5123A>G (p.Lys1708Arg) c.5279A>G (p.Lys1760Arg) c.5486A>G (p.Lys1829Arg) c.4787A>G (p.Lys1596Arg) c.5534A>G (p.Lys1845Arg) | ClinVar dbSNP |
16 | g.3729507T>G | CA394556065 | CREBBP | c.5540A>C (p.Lys1847Thr) c.5426A>C (p.Lys1809Thr) c.5495A>C (p.Lys1832Thr) c.5123A>C (p.Lys1708Thr) c.5279A>C (p.Lys1760Thr) c.5486A>C (p.Lys1829Thr) c.4787A>C (p.Lys1596Thr) c.5534A>C (p.Lys1845Thr) | dbSNP |
16 | g.3729508T>A | CA394556066 | CREBBP | c.5539A>T (p.Lys1847Ter) c.5425A>T (p.Lys1809Ter) c.5494A>T (p.Lys1832Ter) c.5122A>T (p.Lys1708Ter) c.5278A>T (p.Lys1760Ter) c.5485A>T (p.Lys1829Ter) c.4786A>T (p.Lys1596Ter) c.5533A>T (p.Lys1845Ter) | dbSNP |
16 | g.3729508T>C | CA394556067 | CREBBP | c.5539A>G (p.Lys1847Glu) c.5425A>G (p.Lys1809Glu) c.5494A>G (p.Lys1832Glu) c.5122A>G (p.Lys1708Glu) c.5278A>G (p.Lys1760Glu) c.5485A>G (p.Lys1829Glu) c.4786A>G (p.Lys1596Glu) c.5533A>G (p.Lys1845Glu) | dbSNP |
16 | g.3729508T>G | CA394556068 | CREBBP | c.5539A>C (p.Lys1847Gln) c.5425A>C (p.Lys1809Gln) c.5494A>C (p.Lys1832Gln) c.5122A>C (p.Lys1708Gln) c.5278A>C (p.Lys1760Gln) c.5485A>C (p.Lys1829Gln) c.4786A>C (p.Lys1596Gln) c.5533A>C (p.Lys1845Gln) | |
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) |