Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3728881_3728922del | CA271438 | CREBBP | c.6130_6171del (p.Ala2044_Gln2057del) c.6016_6057del (p.Ala2006_Gln2019del) c.6085_6126del (p.Ala2029_Gln2042del) c.5713_5754del (p.Ala1905_Gln1918del) c.5869_5910del (p.Ala1957_Gln1970del) c.6076_6117del (p.Ala2026_Gln2039del) c.5377_5418del (p.Ala1793_Gln1806del) c.6124_6165del (p.Ala2042_Gln2055del) | ClinVar dbSNP |
16 | g.3728909_3728934delinsCGCCTGGGCCTGCATGGATATCACAG | CA2202916110 | CREBBP | c.6113_6138delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2038=) c.5999_6024delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2000=) c.6068_6093delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2023=) c.5696_5721delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro1899=) c.5852_5877delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro1951=) c.6059_6084delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2020=) c.5360_5385delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro1787=) c.6107_6132delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2036=) | |
16 | g.3728918_3728942dup | CA915949062 | CREBBP | c.6113_6137dup (p.Ala2047CysfsTer?) c.5999_6023dup (p.Ala2009CysfsTer?) c.6068_6092dup (p.Ala2032CysfsTer?) c.5696_5720dup (p.Ala1908CysfsTer?) c.5852_5876dup (p.Ala1960CysfsTer?) c.6059_6083dup (p.Ala2029CysfsTer?) c.5360_5384dup (p.Ala1796CysfsTer?) c.6107_6131dup (p.Ala2045CysfsTer?) | ClinVar dbSNP |
16 | g.3728918_3728942del | CA915949063 | CREBBP | c.6113_6137del (p.Pro2038ArgfsTer29) c.5999_6023del (p.Pro2000ArgfsTer29) c.6068_6092del (p.Pro2023ArgfsTer29) c.5696_5720del (p.Pro1899ArgfsTer29) c.5852_5876del (p.Pro1951ArgfsTer29) c.6059_6083del (p.Pro2020ArgfsTer29) c.5360_5384del (p.Pro1787ArgfsTer29) c.6107_6131del (p.Pro2036ArgfsTer29) | ClinVar dbSNP |
16 | g.3728919T>A | CA394554144 | CREBBP | c.6128A>T (p.Gln2043Leu) c.6014A>T (p.Gln2005Leu) c.6083A>T (p.Gln2028Leu) c.5711A>T (p.Gln1904Leu) c.5867A>T (p.Gln1956Leu) c.6074A>T (p.Gln2025Leu) c.5375A>T (p.Gln1792Leu) c.6122A>T (p.Gln2041Leu) | dbSNP |
16 | g.3728919T>C | CA394554146 | CREBBP | c.6128A>G (p.Gln2043Arg) c.6014A>G (p.Gln2005Arg) c.6083A>G (p.Gln2028Arg) c.5711A>G (p.Gln1904Arg) c.5867A>G (p.Gln1956Arg) c.6074A>G (p.Gln2025Arg) c.5375A>G (p.Gln1792Arg) c.6122A>G (p.Gln2041Arg) | dbSNP gnomAD v4 |
16 | g.3728919T>G | CA394554148 | CREBBP | c.6128A>C (p.Gln2043Pro) c.6014A>C (p.Gln2005Pro) c.6083A>C (p.Gln2028Pro) c.5711A>C (p.Gln1904Pro) c.5867A>C (p.Gln1956Pro) c.6074A>C (p.Gln2025Pro) c.5375A>C (p.Gln1792Pro) c.6122A>C (p.Gln2041Pro) | dbSNP |
16 | g.3728920G>A | CA394554150 | CREBBP | c.6127C>T (p.Gln2043Ter) c.6013C>T (p.Gln2005Ter) c.6082C>T (p.Gln2028Ter) c.5710C>T (p.Gln1904Ter) c.5866C>T (p.Gln1956Ter) c.6073C>T (p.Gln2025Ter) c.5374C>T (p.Gln1792Ter) c.6121C>T (p.Gln2041Ter) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728920G>C | CA394554152 | CREBBP | c.6127C>G (p.Gln2043Glu) c.6013C>G (p.Gln2005Glu) c.6082C>G (p.Gln2028Glu) c.5710C>G (p.Gln1904Glu) c.5866C>G (p.Gln1956Glu) c.6073C>G (p.Gln2025Glu) c.5374C>G (p.Gln1792Glu) c.6121C>G (p.Gln2041Glu) | dbSNP |
16 | g.3728920G= | CA2202916115 | CREBBP | c.6127C= (p.Gln2043=) c.6013C= (p.Gln2005=) c.6082C= (p.Gln2028=) c.5710C= (p.Gln1904=) c.5866C= (p.Gln1956=) c.6073C= (p.Gln2025=) c.5374C= (p.Gln1792=) c.6121C= (p.Gln2041=) | |
16 | g.3728920G>T | CA394554154 | CREBBP | c.6127C>A (p.Gln2043Lys) c.6013C>A (p.Gln2005Lys) c.6082C>A (p.Gln2028Lys) c.5710C>A (p.Gln1904Lys) c.5866C>A (p.Gln1956Lys) c.6073C>A (p.Gln2025Lys) c.5374C>A (p.Gln1792Lys) c.6121C>A (p.Gln2041Lys) | gnomAD v4 |
16 | g.3728921C>A | CA276971775 | CREBBP | c.6126G>T (p.Met2042Ile) c.6012G>T (p.Met2004Ile) c.6081G>T (p.Met2027Ile) c.5709G>T (p.Met1903Ile) c.5865G>T (p.Met1955Ile) c.6072G>T (p.Met2024Ile) c.5373G>T (p.Met1791Ile) c.6120G>T (p.Met2040Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728921C= | CA2202916116 | CREBBP | c.6126G= (p.Met2042=) c.6012G= (p.Met2004=) c.6081G= (p.Met2027=) c.5709G= (p.Met1903=) c.5865G= (p.Met1955=) c.6072G= (p.Met2024=) c.5373G= (p.Met1791=) c.6120G= (p.Met2040=) | |
16 | g.3728921C>G | CA394554159 | CREBBP | c.6126G>C (p.Met2042Ile) c.6012G>C (p.Met2004Ile) c.6081G>C (p.Met2027Ile) c.5709G>C (p.Met1903Ile) c.5865G>C (p.Met1955Ile) c.6072G>C (p.Met2024Ile) c.5373G>C (p.Met1791Ile) c.6120G>C (p.Met2040Ile) | dbSNP |
16 | g.3728921C>T | CA394554157 | CREBBP | c.6126G>A (p.Met2042Ile) c.6012G>A (p.Met2004Ile) c.6081G>A (p.Met2027Ile) c.5709G>A (p.Met1903Ile) c.5865G>A (p.Met1955Ile) c.6072G>A (p.Met2024Ile) c.5373G>A (p.Met1791Ile) c.6120G>A (p.Met2040Ile) | dbSNP gnomAD v4 |
16 | g.3728922A>C | CA394554163 | CREBBP | c.6125T>G (p.Met2042Arg) c.6011T>G (p.Met2004Arg) c.6080T>G (p.Met2027Arg) c.5708T>G (p.Met1903Arg) c.5864T>G (p.Met1955Arg) c.6071T>G (p.Met2024Arg) c.5372T>G (p.Met1791Arg) c.6119T>G (p.Met2040Arg) | |
16 | g.3728922A>G | CA394554166 | CREBBP | c.6125T>C (p.Met2042Thr) c.6011T>C (p.Met2004Thr) c.6080T>C (p.Met2027Thr) c.5708T>C (p.Met1903Thr) c.5864T>C (p.Met1955Thr) c.6071T>C (p.Met2024Thr) c.5372T>C (p.Met1791Thr) c.6119T>C (p.Met2040Thr) | gnomAD v4 |
16 | g.3728922A>T | CA394554164 | CREBBP | c.6125T>A (p.Met2042Lys) c.6011T>A (p.Met2004Lys) c.6080T>A (p.Met2027Lys) c.5708T>A (p.Met1903Lys) c.5864T>A (p.Met1955Lys) c.6071T>A (p.Met2024Lys) c.5372T>A (p.Met1791Lys) c.6119T>A (p.Met2040Lys) | |
16 | g.3728924_3728927del | CA2695222741 | CREBBP | c.6122_6125del (p.Ser2041CysfsTer?) c.6008_6011del (p.Ser2003CysfsTer?) c.6077_6080del (p.Ser2026CysfsTer?) c.5705_5708del (p.Ser1902CysfsTer?) c.5861_5864del (p.Ser1954CysfsTer?) c.6068_6071del (p.Ser2023CysfsTer?) c.5369_5372del (p.Ser1790CysfsTer?) c.6116_6119del (p.Ser2039CysfsTer?) | |
16 | g.3728923T>A | CA394554169 | CREBBP | c.6124A>T (p.Met2042Leu) c.6010A>T (p.Met2004Leu) c.6079A>T (p.Met2027Leu) c.5707A>T (p.Met1903Leu) c.5863A>T (p.Met1955Leu) c.6070A>T (p.Met2024Leu) c.5371A>T (p.Met1791Leu) c.6118A>T (p.Met2040Leu) | ClinVar |
16 | g.3728923T>C | CA394554172 | CREBBP | c.6124A>G (p.Met2042Val) c.6010A>G (p.Met2004Val) c.6079A>G (p.Met2027Val) c.5707A>G (p.Met1903Val) c.5863A>G (p.Met1955Val) c.6070A>G (p.Met2024Val) c.5371A>G (p.Met1791Val) c.6118A>G (p.Met2040Val) | |
16 | g.3728923T>G | CA394554170 | CREBBP | c.6124A>C (p.Met2042Leu) c.6010A>C (p.Met2004Leu) c.6079A>C (p.Met2027Leu) c.5707A>C (p.Met1903Leu) c.5863A>C (p.Met1955Leu) c.6070A>C (p.Met2024Leu) c.5371A>C (p.Met1791Leu) c.6118A>C (p.Met2040Leu) | |
16 | g.3728924G>A | CA7869179 | CREBBP | c.6123C>T (p.Ser2041=) c.6009C>T (p.Ser2003=) c.6078C>T (p.Ser2026=) c.5706C>T (p.Ser1902=) c.5862C>T (p.Ser1954=) c.6069C>T (p.Ser2023=) c.5370C>T (p.Ser1790=) c.6117C>T (p.Ser2039=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728924G>C | CA493393828 | CREBBP | c.6123C>G (p.Ser2041=) c.6009C>G (p.Ser2003=) c.6078C>G (p.Ser2026=) c.5706C>G (p.Ser1902=) c.5862C>G (p.Ser1954=) c.6069C>G (p.Ser2023=) c.5370C>G (p.Ser1790=) c.6117C>G (p.Ser2039=) | |
16 | g.3728924G= | CA2202916117 | CREBBP | c.6123C= (p.Ser2041=) c.6009C= (p.Ser2003=) c.6078C= (p.Ser2026=) c.5706C= (p.Ser1902=) c.5862C= (p.Ser1954=) c.6069C= (p.Ser2023=) c.5370C= (p.Ser1790=) c.6117C= (p.Ser2039=) | |
16 | g.3728924G>T | CA493393829 | CREBBP | c.6123C>A (p.Ser2041=) c.6009C>A (p.Ser2003=) c.6078C>A (p.Ser2026=) c.5706C>A (p.Ser1902=) c.5862C>A (p.Ser1954=) c.6069C>A (p.Ser2023=) c.5370C>A (p.Ser1790=) c.6117C>A (p.Ser2039=) | dbSNP |
16 | g.3728925del | CA2740093245 | CREBBP | c.6123del (p.Met2042CysfsTer?) c.6009del (p.Met2004CysfsTer?) c.6078del (p.Met2027CysfsTer?) c.5706del (p.Met1903CysfsTer?) c.5862del (p.Met1955CysfsTer?) c.6069del (p.Met2024CysfsTer?) c.5370del (p.Met1791CysfsTer?) c.6117del (p.Met2040CysfsTer?) | ClinVar |
16 | g.3728925G>A | CA394554175 | CREBBP | c.6122C>T (p.Ser2041Phe) c.6008C>T (p.Ser2003Phe) c.6077C>T (p.Ser2026Phe) c.5705C>T (p.Ser1902Phe) c.5861C>T (p.Ser1954Phe) c.6068C>T (p.Ser2023Phe) c.5369C>T (p.Ser1790Phe) c.6116C>T (p.Ser2039Phe) | dbSNP gnomAD v4 |
16 | g.3728925G>C | CA394554176 | CREBBP | c.6122C>G (p.Ser2041Cys) c.6008C>G (p.Ser2003Cys) c.6077C>G (p.Ser2026Cys) c.5705C>G (p.Ser1902Cys) c.5861C>G (p.Ser1954Cys) c.6068C>G (p.Ser2023Cys) c.5369C>G (p.Ser1790Cys) c.6116C>G (p.Ser2039Cys) | dbSNP |
16 | g.3728925G>T | CA394554177 | CREBBP | c.6122C>A (p.Ser2041Tyr) c.6008C>A (p.Ser2003Tyr) c.6077C>A (p.Ser2026Tyr) c.5705C>A (p.Ser1902Tyr) c.5861C>A (p.Ser1954Tyr) c.6068C>A (p.Ser2023Tyr) c.5369C>A (p.Ser1790Tyr) c.6116C>A (p.Ser2039Tyr) | dbSNP |
16 | g.3728926A= | CA2202916118 | CREBBP | c.6121T= (p.Ser2041=) c.6007T= (p.Ser2003=) c.6076T= (p.Ser2026=) c.5704T= (p.Ser1902=) c.5860T= (p.Ser1954=) c.6067T= (p.Ser2023=) c.5368T= (p.Ser1790=) c.6115T= (p.Ser2039=) | |
16 | g.3728926A>C | CA7869180 | CREBBP | c.6121T>G (p.Ser2041Ala) c.6007T>G (p.Ser2003Ala) c.6076T>G (p.Ser2026Ala) c.5704T>G (p.Ser1902Ala) c.5860T>G (p.Ser1954Ala) c.6067T>G (p.Ser2023Ala) c.5368T>G (p.Ser1790Ala) c.6115T>G (p.Ser2039Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728926A>G | CA394554178 | CREBBP | c.6121T>C (p.Ser2041Pro) c.6007T>C (p.Ser2003Pro) c.6076T>C (p.Ser2026Pro) c.5704T>C (p.Ser1902Pro) c.5860T>C (p.Ser1954Pro) c.6067T>C (p.Ser2023Pro) c.5368T>C (p.Ser1790Pro) c.6115T>C (p.Ser2039Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728926A>T | CA394554179 | CREBBP | c.6121T>A (p.Ser2041Thr) c.6007T>A (p.Ser2003Thr) c.6076T>A (p.Ser2026Thr) c.5704T>A (p.Ser1902Thr) c.5860T>A (p.Ser1954Thr) c.6067T>A (p.Ser2023Thr) c.5368T>A (p.Ser1790Thr) c.6115T>A (p.Ser2039Thr) | |
16 | g.3728927T>A | CA493393830 | CREBBP | c.6120A>T (p.Ile2040=) c.6006A>T (p.Ile2002=) c.6075A>T (p.Ile2025=) c.5703A>T (p.Ile1901=) c.5859A>T (p.Ile1953=) c.6066A>T (p.Ile2022=) c.5367A>T (p.Ile1789=) c.6114A>T (p.Ile2038=) | dbSNP |
16 | g.3728927T>C | CA394554180 | CREBBP | c.6120A>G (p.Ile2040Met) c.6006A>G (p.Ile2002Met) c.6075A>G (p.Ile2025Met) c.5703A>G (p.Ile1901Met) c.5859A>G (p.Ile1953Met) c.6066A>G (p.Ile2022Met) c.5367A>G (p.Ile1789Met) c.6114A>G (p.Ile2038Met) | |
16 | g.3728927T>G | CA493393831 | CREBBP | c.6120A>C (p.Ile2040=) c.6006A>C (p.Ile2002=) c.6075A>C (p.Ile2025=) c.5703A>C (p.Ile1901=) c.5859A>C (p.Ile1953=) c.6066A>C (p.Ile2022=) c.5367A>C (p.Ile1789=) c.6114A>C (p.Ile2038=) | |
16 | g.3728927T= | CA2202916119 | CREBBP | c.6120A= (p.Ile2040=) c.6006A= (p.Ile2002=) c.6075A= (p.Ile2025=) c.5703A= (p.Ile1901=) c.5859A= (p.Ile1953=) c.6066A= (p.Ile2022=) c.5367A= (p.Ile1789=) c.6114A= (p.Ile2038=) | |
16 | g.3728928A= | CA2202916120 | CREBBP | c.6119T= (p.Ile2040=) c.6005T= (p.Ile2002=) c.6074T= (p.Ile2025=) c.5702T= (p.Ile1901=) c.5858T= (p.Ile1953=) c.6065T= (p.Ile2022=) c.5366T= (p.Ile1789=) c.6113T= (p.Ile2038=) | |
16 | g.3728928A>C | CA394554181 | CREBBP | c.6119T>G (p.Ile2040Arg) c.6005T>G (p.Ile2002Arg) c.6074T>G (p.Ile2025Arg) c.5702T>G (p.Ile1901Arg) c.5858T>G (p.Ile1953Arg) c.6065T>G (p.Ile2022Arg) c.5366T>G (p.Ile1789Arg) c.6113T>G (p.Ile2038Arg) | dbSNP |
16 | g.3728928A>G | CA394554182 | CREBBP | c.6119T>C (p.Ile2040Thr) c.6005T>C (p.Ile2002Thr) c.6074T>C (p.Ile2025Thr) c.5702T>C (p.Ile1901Thr) c.5858T>C (p.Ile1953Thr) c.6065T>C (p.Ile2022Thr) c.5366T>C (p.Ile1789Thr) c.6113T>C (p.Ile2038Thr) | ClinVar dbSNP |
16 | g.3728928A>T | CA7869181 | CREBBP | c.6119T>A (p.Ile2040Lys) c.6005T>A (p.Ile2002Lys) c.6074T>A (p.Ile2025Lys) c.5702T>A (p.Ile1901Lys) c.5858T>A (p.Ile1953Lys) c.6065T>A (p.Ile2022Lys) c.5366T>A (p.Ile1789Lys) c.6113T>A (p.Ile2038Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728929T>A | CA394554185 | CREBBP | c.6118A>T (p.Ile2040Leu) c.6004A>T (p.Ile2002Leu) c.6073A>T (p.Ile2025Leu) c.5701A>T (p.Ile1901Leu) c.5857A>T (p.Ile1953Leu) c.6064A>T (p.Ile2022Leu) c.5365A>T (p.Ile1789Leu) c.6112A>T (p.Ile2038Leu) | |
16 | g.3728929T>C | CA394554184 | CREBBP | c.6118A>G (p.Ile2040Val) c.6004A>G (p.Ile2002Val) c.6073A>G (p.Ile2025Val) c.5701A>G (p.Ile1901Val) c.5857A>G (p.Ile1953Val) c.6064A>G (p.Ile2022Val) c.5365A>G (p.Ile1789Val) c.6112A>G (p.Ile2038Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728929T>G | CA394554183 | CREBBP | c.6118A>C (p.Ile2040Leu) c.6004A>C (p.Ile2002Leu) c.6073A>C (p.Ile2025Leu) c.5701A>C (p.Ile1901Leu) c.5857A>C (p.Ile1953Leu) c.6064A>C (p.Ile2022Leu) c.5365A>C (p.Ile1789Leu) c.6112A>C (p.Ile2038Leu) | gnomAD v4 |
16 | g.3728929T= | CA2202916121 | CREBBP | c.6118A= (p.Ile2040=) c.6004A= (p.Ile2002=) c.6073A= (p.Ile2025=) c.5701A= (p.Ile1901=) c.5857A= (p.Ile1953=) c.6064A= (p.Ile2022=) c.5365A= (p.Ile1789=) c.6112A= (p.Ile2038=) | |
16 | g.3728930C>A | CA493393833 | CREBBP | c.6117G>T (p.Val2039=) c.6003G>T (p.Val2001=) c.6072G>T (p.Val2024=) c.5700G>T (p.Val1900=) c.5856G>T (p.Val1952=) c.6063G>T (p.Val2021=) c.5364G>T (p.Val1788=) c.6111G>T (p.Val2037=) | dbSNP |
16 | g.3728930C>G | CA493393834 | CREBBP | c.6117G>C (p.Val2039=) c.6003G>C (p.Val2001=) c.6072G>C (p.Val2024=) c.5700G>C (p.Val1900=) c.5856G>C (p.Val1952=) c.6063G>C (p.Val2021=) c.5364G>C (p.Val1788=) c.6111G>C (p.Val2037=) | dbSNP |
16 | g.3728930C>T | CA493393832 | CREBBP | c.6117G>A (p.Val2039=) c.6003G>A (p.Val2001=) c.6072G>A (p.Val2024=) c.5700G>A (p.Val1900=) c.5856G>A (p.Val1952=) c.6063G>A (p.Val2021=) c.5364G>A (p.Val1788=) c.6111G>A (p.Val2037=) | dbSNP |
16 | g.3728930_3728940delinsCACAGGCCTGG | CA2202916122 | CREBBP | c.6107_6117delinsCCAGGCCTGTG (p.Pro2036=) c.5993_6003delinsCCAGGCCTGTG (p.Pro1998=) c.6062_6072delinsCCAGGCCTGTG (p.Pro2021=) c.5690_5700delinsCCAGGCCTGTG (p.Pro1897=) c.5846_5856delinsCCAGGCCTGTG (p.Pro1949=) c.6053_6063delinsCCAGGCCTGTG (p.Pro2018=) c.5354_5364delinsCCAGGCCTGTG (p.Pro1785=) c.6101_6111delinsCCAGGCCTGTG (p.Pro2034=) | |
16 | g.3728931A>C | CA394554186 | CREBBP | c.6116T>G (p.Val2039Gly) c.6002T>G (p.Val2001Gly) c.6071T>G (p.Val2024Gly) c.5699T>G (p.Val1900Gly) c.5855T>G (p.Val1952Gly) c.6062T>G (p.Val2021Gly) c.5363T>G (p.Val1788Gly) c.6110T>G (p.Val2037Gly) | dbSNP gnomAD v4 |
16 | g.3728931A>G | CA394554187 | CREBBP | c.6116T>C (p.Val2039Ala) c.6002T>C (p.Val2001Ala) c.6071T>C (p.Val2024Ala) c.5699T>C (p.Val1900Ala) c.5855T>C (p.Val1952Ala) c.6062T>C (p.Val2021Ala) c.5363T>C (p.Val1788Ala) c.6110T>C (p.Val2037Ala) | dbSNP gnomAD v4 |
16 | g.3728931A>T | CA394554188 | CREBBP | c.6116T>A (p.Val2039Glu) c.6002T>A (p.Val2001Glu) c.6071T>A (p.Val2024Glu) c.5699T>A (p.Val1900Glu) c.5855T>A (p.Val1952Glu) c.6062T>A (p.Val2021Glu) c.5363T>A (p.Val1788Glu) c.6110T>A (p.Val2037Glu) | dbSNP |
16 | g.3728931_3728940del | CA277328 | CREBBP | c.6107_6116del (p.Pro2036ArgfsTer?) c.5993_6002del (p.Pro1998ArgfsTer?) c.6062_6071del (p.Pro2021ArgfsTer?) c.5690_5699del (p.Pro1897ArgfsTer?) c.5846_5855del (p.Pro1949ArgfsTer?) c.6053_6062del (p.Pro2018ArgfsTer?) c.5354_5363del (p.Pro1785ArgfsTer?) c.6101_6110del (p.Pro2034ArgfsTer?) | ClinVar dbSNP |
16 | g.3728932C>A | CA394554189 | CREBBP | c.6115G>T (p.Val2039Leu) c.6001G>T (p.Val2001Leu) c.6070G>T (p.Val2024Leu) c.5698G>T (p.Val1900Leu) c.5854G>T (p.Val1952Leu) c.6061G>T (p.Val2021Leu) c.5362G>T (p.Val1788Leu) c.6109G>T (p.Val2037Leu) | dbSNP gnomAD v4 |
16 | g.3728932C= | CA2202916123 | CREBBP | c.6115G= (p.Val2039=) c.6001G= (p.Val2001=) c.6070G= (p.Val2024=) c.5698G= (p.Val1900=) c.5854G= (p.Val1952=) c.6061G= (p.Val2021=) c.5362G= (p.Val1788=) c.6109G= (p.Val2037=) | |
16 | g.3728932C>G | CA394554190 | CREBBP | c.6115G>C (p.Val2039Leu) c.6001G>C (p.Val2001Leu) c.6070G>C (p.Val2024Leu) c.5698G>C (p.Val1900Leu) c.5854G>C (p.Val1952Leu) c.6061G>C (p.Val2021Leu) c.5362G>C (p.Val1788Leu) c.6109G>C (p.Val2037Leu) | dbSNP |
16 | g.3728932C>T | CA394554191 | CREBBP | c.6115G>A (p.Val2039Met) c.6001G>A (p.Val2001Met) c.6070G>A (p.Val2024Met) c.5698G>A (p.Val1900Met) c.5854G>A (p.Val1952Met) c.6061G>A (p.Val2021Met) c.5362G>A (p.Val1788Met) c.6109G>A (p.Val2037Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728933A>C | CA493393837 | CREBBP | c.6114T>G (p.Pro2038=) c.6000T>G (p.Pro2000=) c.6069T>G (p.Pro2023=) c.5697T>G (p.Pro1899=) c.5853T>G (p.Pro1951=) c.6060T>G (p.Pro2020=) c.5361T>G (p.Pro1787=) c.6108T>G (p.Pro2036=) | dbSNP |
16 | g.3728933A>G | CA493393836 | CREBBP | c.6114T>C (p.Pro2038=) c.6000T>C (p.Pro2000=) c.6069T>C (p.Pro2023=) c.5697T>C (p.Pro1899=) c.5853T>C (p.Pro1951=) c.6060T>C (p.Pro2020=) c.5361T>C (p.Pro1787=) c.6108T>C (p.Pro2036=) | dbSNP gnomAD v4 |
16 | g.3728933A>T | CA493393835 | CREBBP | c.6114T>A (p.Pro2038=) c.6000T>A (p.Pro2000=) c.6069T>A (p.Pro2023=) c.5697T>A (p.Pro1899=) c.5853T>A (p.Pro1951=) c.6060T>A (p.Pro2020=) c.5361T>A (p.Pro1787=) c.6108T>A (p.Pro2036=) | dbSNP |
16 | g.3728934G>A | CA394554192 | CREBBP | c.6113C>T (p.Pro2038Leu) c.5999C>T (p.Pro2000Leu) c.6068C>T (p.Pro2023Leu) c.5696C>T (p.Pro1899Leu) c.5852C>T (p.Pro1951Leu) c.6059C>T (p.Pro2020Leu) c.5360C>T (p.Pro1787Leu) c.6107C>T (p.Pro2036Leu) | dbSNP |
16 | g.3728934G>C | CA394554193 | CREBBP | c.6113C>G (p.Pro2038Arg) c.5999C>G (p.Pro2000Arg) c.6068C>G (p.Pro2023Arg) c.5696C>G (p.Pro1899Arg) c.5852C>G (p.Pro1951Arg) c.6059C>G (p.Pro2020Arg) c.5360C>G (p.Pro1787Arg) c.6107C>G (p.Pro2036Arg) | |
16 | g.3728934G>T | CA394554194 | CREBBP | c.6113C>A (p.Pro2038His) c.5999C>A (p.Pro2000His) c.6068C>A (p.Pro2023His) c.5696C>A (p.Pro1899His) c.5852C>A (p.Pro1951His) c.6059C>A (p.Pro2020His) c.5360C>A (p.Pro1787His) c.6107C>A (p.Pro2036His) | dbSNP |
16 | g.3728935G>A | CA394554195 | CREBBP | c.6112C>T (p.Pro2038Ser) c.5998C>T (p.Pro2000Ser) c.6067C>T (p.Pro2023Ser) c.5695C>T (p.Pro1899Ser) c.5851C>T (p.Pro1951Ser) c.6058C>T (p.Pro2020Ser) c.5359C>T (p.Pro1787Ser) c.6106C>T (p.Pro2036Ser) | dbSNP |
16 | g.3728935G>C | CA394554196 | CREBBP | c.6112C>G (p.Pro2038Ala) c.5998C>G (p.Pro2000Ala) c.6067C>G (p.Pro2023Ala) c.5695C>G (p.Pro1899Ala) c.5851C>G (p.Pro1951Ala) c.6058C>G (p.Pro2020Ala) c.5359C>G (p.Pro1787Ala) c.6106C>G (p.Pro2036Ala) | dbSNP |
16 | g.3728935G>T | CA394554197 | CREBBP | c.6112C>A (p.Pro2038Thr) c.5998C>A (p.Pro2000Thr) c.6067C>A (p.Pro2023Thr) c.5695C>A (p.Pro1899Thr) c.5851C>A (p.Pro1951Thr) c.6058C>A (p.Pro2020Thr) c.5359C>A (p.Pro1787Thr) c.6106C>A (p.Pro2036Thr) | |
16 | g.3728936C>A | CA394554198 | CREBBP | c.6111G>T (p.Arg2037Ser) c.5997G>T (p.Arg1999Ser) c.6066G>T (p.Arg2022Ser) c.5694G>T (p.Arg1898Ser) c.5850G>T (p.Arg1950Ser) c.6057G>T (p.Arg2019Ser) c.5358G>T (p.Arg1786Ser) c.6105G>T (p.Arg2035Ser) | dbSNP gnomAD v4 |
16 | g.3728936C= | CA2202916124 | CREBBP | c.6111G= (p.Arg2037=) c.5997G= (p.Arg1999=) c.6066G= (p.Arg2022=) c.5694G= (p.Arg1898=) c.5850G= (p.Arg1950=) c.6057G= (p.Arg2019=) c.5358G= (p.Arg1786=) c.6105G= (p.Arg2035=) | |
16 | g.3728936C>G | CA394554199 | CREBBP | c.6111G>C (p.Arg2037Ser) c.5997G>C (p.Arg1999Ser) c.6066G>C (p.Arg2022Ser) c.5694G>C (p.Arg1898Ser) c.5850G>C (p.Arg1950Ser) c.6057G>C (p.Arg2019Ser) c.5358G>C (p.Arg1786Ser) c.6105G>C (p.Arg2035Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.3728936C>T | CA493393838 | CREBBP | c.6111G>A (p.Arg2037=) c.5997G>A (p.Arg1999=) c.6066G>A (p.Arg2022=) c.5694G>A (p.Arg1898=) c.5850G>A (p.Arg1950=) c.6057G>A (p.Arg2019=) c.5358G>A (p.Arg1786=) c.6105G>A (p.Arg2035=) | dbSNP gnomAD v4 |
16 | g.3728937del | CA2825002417 | CREBBP | c.6111del (p.Arg2037SerfsTer3) c.5997del (p.Arg1999SerfsTer3) c.6066del (p.Arg2022SerfsTer3) c.5694del (p.Arg1898SerfsTer3) c.5850del (p.Arg1950SerfsTer3) c.6057del (p.Arg2019SerfsTer3) c.5358del (p.Arg1786SerfsTer3) c.6105del (p.Arg2035SerfsTer3) | ClinVar |
16 | g.3728937C>A | CA394554200 | CREBBP | c.6110G>T (p.Arg2037Met) c.5996G>T (p.Arg1999Met) c.6065G>T (p.Arg2022Met) c.5693G>T (p.Arg1898Met) c.5849G>T (p.Arg1950Met) c.6056G>T (p.Arg2019Met) c.5357G>T (p.Arg1786Met) c.6104G>T (p.Arg2035Met) | dbSNP gnomAD v4 |
16 | g.3728937C= | CA2202916125 | CREBBP | c.6110G= (p.Arg2037=) c.5996G= (p.Arg1999=) c.6065G= (p.Arg2022=) c.5693G= (p.Arg1898=) c.5849G= (p.Arg1950=) c.6056G= (p.Arg2019=) c.5357G= (p.Arg1786=) c.6104G= (p.Arg2035=) | |
16 | g.3728937C>G | CA394554201 | CREBBP | c.6110G>C (p.Arg2037Thr) c.5996G>C (p.Arg1999Thr) c.6065G>C (p.Arg2022Thr) c.5693G>C (p.Arg1898Thr) c.5849G>C (p.Arg1950Thr) c.6056G>C (p.Arg2019Thr) c.5357G>C (p.Arg1786Thr) c.6104G>C (p.Arg2035Thr) | dbSNP |
16 | g.3728937C>T | CA394554202 | CREBBP | c.6110G>A (p.Arg2037Lys) c.5996G>A (p.Arg1999Lys) c.6065G>A (p.Arg2022Lys) c.5693G>A (p.Arg1898Lys) c.5849G>A (p.Arg1950Lys) c.6056G>A (p.Arg2019Lys) c.5357G>A (p.Arg1786Lys) c.6104G>A (p.Arg2035Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728938T>A | CA394554203 | CREBBP | c.6109A>T (p.Arg2037Trp) c.5995A>T (p.Arg1999Trp) c.6064A>T (p.Arg2022Trp) c.5692A>T (p.Arg1898Trp) c.5848A>T (p.Arg1950Trp) c.6055A>T (p.Arg2019Trp) c.5356A>T (p.Arg1786Trp) c.6103A>T (p.Arg2035Trp) | |
16 | g.3728938T>C | CA394554204 | CREBBP | c.6109A>G (p.Arg2037Gly) c.5995A>G (p.Arg1999Gly) c.6064A>G (p.Arg2022Gly) c.5692A>G (p.Arg1898Gly) c.5848A>G (p.Arg1950Gly) c.6055A>G (p.Arg2019Gly) c.5356A>G (p.Arg1786Gly) c.6103A>G (p.Arg2035Gly) | ClinVar gnomAD v4 |
16 | g.3728938T>G | CA7869182 | CREBBP | c.6109A>C (p.Arg2037=) c.5995A>C (p.Arg1999=) c.6064A>C (p.Arg2022=) c.5692A>C (p.Arg1898=) c.5848A>C (p.Arg1950=) c.6055A>C (p.Arg2019=) c.5356A>C (p.Arg1786=) c.6103A>C (p.Arg2035=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728938T= | CA2202916126 | CREBBP | c.6109A= (p.Arg2037=) c.5995A= (p.Arg1999=) c.6064A= (p.Arg2022=) c.5692A= (p.Arg1898=) c.5848A= (p.Arg1950=) c.6055A= (p.Arg2019=) c.5356A= (p.Arg1786=) c.6103A= (p.Arg2035=) | |
16 | g.3728939G>A | CA493393839 | CREBBP | c.6108C>T (p.Pro2036=) c.5994C>T (p.Pro1998=) c.6063C>T (p.Pro2021=) c.5691C>T (p.Pro1897=) c.5847C>T (p.Pro1949=) c.6054C>T (p.Pro2018=) c.5355C>T (p.Pro1785=) c.6102C>T (p.Pro2034=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728939G>C | CA493393840 | CREBBP | c.6108C>G (p.Pro2036=) c.5994C>G (p.Pro1998=) c.6063C>G (p.Pro2021=) c.5691C>G (p.Pro1897=) c.5847C>G (p.Pro1949=) c.6054C>G (p.Pro2018=) c.5355C>G (p.Pro1785=) c.6102C>G (p.Pro2034=) | |
16 | g.3728939G= | CA2202916127 | CREBBP | c.6108C= (p.Pro2036=) c.5994C= (p.Pro1998=) c.6063C= (p.Pro2021=) c.5691C= (p.Pro1897=) c.5847C= (p.Pro1949=) c.6054C= (p.Pro2018=) c.5355C= (p.Pro1785=) c.6102C= (p.Pro2034=) | |
16 | g.3728939G>T | CA493393841 | CREBBP | c.6108C>A (p.Pro2036=) c.5994C>A (p.Pro1998=) c.6063C>A (p.Pro2021=) c.5691C>A (p.Pro1897=) c.5847C>A (p.Pro1949=) c.6054C>A (p.Pro2018=) c.5355C>A (p.Pro1785=) c.6102C>A (p.Pro2034=) | |
16 | g.3728940G>A | CA394554207 | CREBBP | c.6107C>T (p.Pro2036Leu) c.5993C>T (p.Pro1998Leu) c.6062C>T (p.Pro2021Leu) c.5690C>T (p.Pro1897Leu) c.5846C>T (p.Pro1949Leu) c.6053C>T (p.Pro2018Leu) c.5354C>T (p.Pro1785Leu) c.6101C>T (p.Pro2034Leu) | dbSNP |
16 | g.3728940G>C | CA394554205 | CREBBP | c.6107C>G (p.Pro2036Arg) c.5993C>G (p.Pro1998Arg) c.6062C>G (p.Pro2021Arg) c.5690C>G (p.Pro1897Arg) c.5846C>G (p.Pro1949Arg) c.6053C>G (p.Pro2018Arg) c.5354C>G (p.Pro1785Arg) c.6101C>G (p.Pro2034Arg) | |
16 | g.3728940G>T | CA394554206 | CREBBP | c.6107C>A (p.Pro2036His) c.5993C>A (p.Pro1998His) c.6062C>A (p.Pro2021His) c.5690C>A (p.Pro1897His) c.5846C>A (p.Pro1949His) c.6053C>A (p.Pro2018His) c.5354C>A (p.Pro1785His) c.6101C>A (p.Pro2034His) | |
16 | g.3728941G>A | CA394554208 | CREBBP | c.6106C>T (p.Pro2036Ser) c.5992C>T (p.Pro1998Ser) c.6061C>T (p.Pro2021Ser) c.5689C>T (p.Pro1897Ser) c.5845C>T (p.Pro1949Ser) c.6052C>T (p.Pro2018Ser) c.5353C>T (p.Pro1785Ser) c.6100C>T (p.Pro2034Ser) | dbSNP gnomAD v4 |
16 | g.3728941G>C | CA394554209 | CREBBP | c.6106C>G (p.Pro2036Ala) c.5992C>G (p.Pro1998Ala) c.6061C>G (p.Pro2021Ala) c.5689C>G (p.Pro1897Ala) c.5845C>G (p.Pro1949Ala) c.6052C>G (p.Pro2018Ala) c.5353C>G (p.Pro1785Ala) c.6100C>G (p.Pro2034Ala) | dbSNP COSMIC |
16 | g.3728941G= | CA2202916128 | CREBBP | c.6106C= (p.Pro2036=) c.5992C= (p.Pro1998=) c.6061C= (p.Pro2021=) c.5689C= (p.Pro1897=) c.5845C= (p.Pro1949=) c.6052C= (p.Pro2018=) c.5353C= (p.Pro1785=) c.6100C= (p.Pro2034=) | |
16 | g.3728941G>T | CA394554210 | CREBBP | c.6106C>A (p.Pro2036Thr) c.5992C>A (p.Pro1998Thr) c.6061C>A (p.Pro2021Thr) c.5689C>A (p.Pro1897Thr) c.5845C>A (p.Pro1949Thr) c.6052C>A (p.Pro2018Thr) c.5353C>A (p.Pro1785Thr) c.6100C>A (p.Pro2034Thr) | |
16 | g.3728942del | CA2839593153 | CREBBP | c.6105del (p.Leu2035PhefsTer5) c.5991del (p.Leu1997PhefsTer5) c.6060del (p.Leu2020PhefsTer5) c.5688del (p.Leu1896PhefsTer5) c.5844del (p.Leu1948PhefsTer5) c.6051del (p.Leu2017PhefsTer5) c.5352del (p.Leu1784PhefsTer5) c.6099del (p.Leu2033PhefsTer5) | |
16 | g.3728942C>A | CA394554211 | CREBBP | c.6105G>T (p.Leu2035Phe) c.5991G>T (p.Leu1997Phe) c.6060G>T (p.Leu2020Phe) c.5688G>T (p.Leu1896Phe) c.5844G>T (p.Leu1948Phe) c.6051G>T (p.Leu2017Phe) c.5352G>T (p.Leu1784Phe) c.6099G>T (p.Leu2033Phe) | dbSNP gnomAD v4 |
16 | g.3728942C>G | CA394554212 | CREBBP | c.6105G>C (p.Leu2035Phe) c.5991G>C (p.Leu1997Phe) c.6060G>C (p.Leu2020Phe) c.5688G>C (p.Leu1896Phe) c.5844G>C (p.Leu1948Phe) c.6051G>C (p.Leu2017Phe) c.5352G>C (p.Leu1784Phe) c.6099G>C (p.Leu2033Phe) | dbSNP |
16 | g.3728942C>T | CA493393842 | CREBBP | c.6105G>A (p.Leu2035=) c.5991G>A (p.Leu1997=) c.6060G>A (p.Leu2020=) c.5688G>A (p.Leu1896=) c.5844G>A (p.Leu1948=) c.6051G>A (p.Leu2017=) c.5352G>A (p.Leu1784=) c.6099G>A (p.Leu2033=) | dbSNP gnomAD v4 |
16 | g.3728942_3728943delinsCA | CA2202916129 | CREBBP | c.6104_6105delinsTG (p.Leu2035=) c.5990_5991delinsTG (p.Leu1997=) c.6059_6060delinsTG (p.Leu2020=) c.5687_5688delinsTG (p.Leu1896=) c.5843_5844delinsTG (p.Leu1948=) c.6050_6051delinsTG (p.Leu2017=) c.5351_5352delinsTG (p.Leu1784=) c.6098_6099delinsTG (p.Leu2033=) | |
16 | g.3728943A>C | CA394554213 | CREBBP | c.6104T>G (p.Leu2035Trp) c.5990T>G (p.Leu1997Trp) c.6059T>G (p.Leu2020Trp) c.5687T>G (p.Leu1896Trp) c.5843T>G (p.Leu1948Trp) c.6050T>G (p.Leu2017Trp) c.5351T>G (p.Leu1784Trp) c.6098T>G (p.Leu2033Trp) | dbSNP |
16 | g.3728943A>G | CA394554215 | CREBBP | c.6104T>C (p.Leu2035Ser) c.5990T>C (p.Leu1997Ser) c.6059T>C (p.Leu2020Ser) c.5687T>C (p.Leu1896Ser) c.5843T>C (p.Leu1948Ser) c.6050T>C (p.Leu2017Ser) c.5351T>C (p.Leu1784Ser) c.6098T>C (p.Leu2033Ser) | dbSNP |
16 | g.3728943A>T | CA394554214 | CREBBP | c.6104T>A (p.Leu2035Ter) c.5990T>A (p.Leu1997Ter) c.6059T>A (p.Leu2020Ter) c.5687T>A (p.Leu1896Ter) c.5843T>A (p.Leu1948Ter) c.6050T>A (p.Leu2017Ter) c.5351T>A (p.Leu1784Ter) c.6098T>A (p.Leu2033Ter) | dbSNP |
16 | g.3728944del | CA1139664467 | CREBBP | c.6104del (p.Leu2035CysfsTer5) c.5990del (p.Leu1997CysfsTer5) c.6059del (p.Leu2020CysfsTer5) c.5687del (p.Leu1896CysfsTer5) c.5843del (p.Leu1948CysfsTer5) c.6050del (p.Leu2017CysfsTer5) c.5351del (p.Leu1784CysfsTer5) c.6098del (p.Leu2033CysfsTer5) | ClinVar dbSNP |
16 | g.3728944A>C | CA394554216 | CREBBP | c.6103T>G (p.Leu2035Val) c.5989T>G (p.Leu1997Val) c.6058T>G (p.Leu2020Val) c.5686T>G (p.Leu1896Val) c.5842T>G (p.Leu1948Val) c.6049T>G (p.Leu2017Val) c.5350T>G (p.Leu1784Val) c.6097T>G (p.Leu2033Val) | dbSNP |
16 | g.3728944A>G | CA493393843 | CREBBP | c.6103T>C (p.Leu2035=) c.5989T>C (p.Leu1997=) c.6058T>C (p.Leu2020=) c.5686T>C (p.Leu1896=) c.5842T>C (p.Leu1948=) c.6049T>C (p.Leu2017=) c.5350T>C (p.Leu1784=) c.6097T>C (p.Leu2033=) | dbSNP |
16 | g.3728944A>T | CA394554217 | CREBBP | c.6103T>A (p.Leu2035Met) c.5989T>A (p.Leu1997Met) c.6058T>A (p.Leu2020Met) c.5686T>A (p.Leu1896Met) c.5842T>A (p.Leu1948Met) c.6049T>A (p.Leu2017Met) c.5350T>A (p.Leu1784Met) c.6097T>A (p.Leu2033Met) | dbSNP |
16 | g.3728945G>A | CA493393844 | CREBBP | c.6102C>T (p.Gly2034=) c.5988C>T (p.Gly1996=) c.6057C>T (p.Gly2019=) c.5685C>T (p.Gly1895=) c.5841C>T (p.Gly1947=) c.6048C>T (p.Gly2016=) c.5349C>T (p.Gly1783=) c.6096C>T (p.Gly2032=) | ClinVar dbSNP |
16 | g.3728945G>C | CA493393845 | CREBBP | c.6102C>G (p.Gly2034=) c.5988C>G (p.Gly1996=) c.6057C>G (p.Gly2019=) c.5685C>G (p.Gly1895=) c.5841C>G (p.Gly1947=) c.6048C>G (p.Gly2016=) c.5349C>G (p.Gly1783=) c.6096C>G (p.Gly2032=) | gnomAD v4 |
16 | g.3728945G>T | CA493393846 | CREBBP | c.6102C>A (p.Gly2034=) c.5988C>A (p.Gly1996=) c.6057C>A (p.Gly2019=) c.5685C>A (p.Gly1895=) c.5841C>A (p.Gly1947=) c.6048C>A (p.Gly2016=) c.5349C>A (p.Gly1783=) c.6096C>A (p.Gly2032=) | gnomAD v4 |
16 | g.3728946C>A | CA394554218 | CREBBP | c.6101G>T (p.Gly2034Val) c.5987G>T (p.Gly1996Val) c.6056G>T (p.Gly2019Val) c.5684G>T (p.Gly1895Val) c.5840G>T (p.Gly1947Val) c.6047G>T (p.Gly2016Val) c.5348G>T (p.Gly1783Val) c.6095G>T (p.Gly2032Val) | dbSNP |
16 | g.3728946C>G | CA394554220 | CREBBP | c.6101G>C (p.Gly2034Ala) c.5987G>C (p.Gly1996Ala) c.6056G>C (p.Gly2019Ala) c.5684G>C (p.Gly1895Ala) c.5840G>C (p.Gly1947Ala) c.6047G>C (p.Gly2016Ala) c.5348G>C (p.Gly1783Ala) c.6095G>C (p.Gly2032Ala) | dbSNP gnomAD v4 |
16 | g.3728946C>T | CA394554221 | CREBBP | c.6101G>A (p.Gly2034Asp) c.5987G>A (p.Gly1996Asp) c.6056G>A (p.Gly2019Asp) c.5684G>A (p.Gly1895Asp) c.5840G>A (p.Gly1947Asp) c.6047G>A (p.Gly2016Asp) c.5348G>A (p.Gly1783Asp) c.6095G>A (p.Gly2032Asp) | dbSNP gnomAD v4 |
16 | g.3728947C>A | CA394554224 | CREBBP | c.6100G>T (p.Gly2034Cys) c.5986G>T (p.Gly1996Cys) c.6055G>T (p.Gly2019Cys) c.5683G>T (p.Gly1895Cys) c.5839G>T (p.Gly1947Cys) c.6046G>T (p.Gly2016Cys) c.5347G>T (p.Gly1783Cys) c.6094G>T (p.Gly2032Cys) | |
16 | g.3728947C>G | CA394554225 | CREBBP | c.6100G>C (p.Gly2034Arg) c.5986G>C (p.Gly1996Arg) c.6055G>C (p.Gly2019Arg) c.5683G>C (p.Gly1895Arg) c.5839G>C (p.Gly1947Arg) c.6046G>C (p.Gly2016Arg) c.5347G>C (p.Gly1783Arg) c.6094G>C (p.Gly2032Arg) | dbSNP |
16 | g.3728947C>T | CA394554227 | CREBBP | c.6100G>A (p.Gly2034Ser) c.5986G>A (p.Gly1996Ser) c.6055G>A (p.Gly2019Ser) c.5683G>A (p.Gly1895Ser) c.5839G>A (p.Gly1947Ser) c.6046G>A (p.Gly2016Ser) c.5347G>A (p.Gly1783Ser) c.6094G>A (p.Gly2032Ser) | dbSNP |
16 | g.3728948T>A | CA493393848 | CREBBP | c.6099A>T (p.Pro2033=) c.5985A>T (p.Pro1995=) c.6054A>T (p.Pro2018=) c.5682A>T (p.Pro1894=) c.5838A>T (p.Pro1946=) c.6045A>T (p.Pro2015=) c.5346A>T (p.Pro1782=) c.6093A>T (p.Pro2031=) | |
16 | g.3728948T>C | CA493393849 | CREBBP | c.6099A>G (p.Pro2033=) c.5985A>G (p.Pro1995=) c.6054A>G (p.Pro2018=) c.5682A>G (p.Pro1894=) c.5838A>G (p.Pro1946=) c.6045A>G (p.Pro2015=) c.5346A>G (p.Pro1782=) c.6093A>G (p.Pro2031=) | |
16 | g.3728948T>G | CA493393851 | CREBBP | c.6099A>C (p.Pro2033=) c.5985A>C (p.Pro1995=) c.6054A>C (p.Pro2018=) c.5682A>C (p.Pro1894=) c.5838A>C (p.Pro1946=) c.6045A>C (p.Pro2015=) c.5346A>C (p.Pro1782=) c.6093A>C (p.Pro2031=) | |
16 | g.3728949G>A | CA394554230 | CREBBP | c.6098C>T (p.Pro2033Leu) c.5984C>T (p.Pro1995Leu) c.6053C>T (p.Pro2018Leu) c.5681C>T (p.Pro1894Leu) c.5837C>T (p.Pro1946Leu) c.6044C>T (p.Pro2015Leu) c.5345C>T (p.Pro1782Leu) c.6092C>T (p.Pro2031Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728949G>C | CA394554231 | CREBBP | c.6098C>G (p.Pro2033Arg) c.5984C>G (p.Pro1995Arg) c.6053C>G (p.Pro2018Arg) c.5681C>G (p.Pro1894Arg) c.5837C>G (p.Pro1946Arg) c.6044C>G (p.Pro2015Arg) c.5345C>G (p.Pro1782Arg) c.6092C>G (p.Pro2031Arg) | gnomAD v4 |
16 | g.3728949G= | CA2202916130 | CREBBP | c.6098C= (p.Pro2033=) c.5984C= (p.Pro1995=) c.6053C= (p.Pro2018=) c.5681C= (p.Pro1894=) c.5837C= (p.Pro1946=) c.6044C= (p.Pro2015=) c.5345C= (p.Pro1782=) c.6092C= (p.Pro2031=) | |
16 | g.3728949G>T | CA394554233 | CREBBP | c.6098C>A (p.Pro2033Gln) c.5984C>A (p.Pro1995Gln) c.6053C>A (p.Pro2018Gln) c.5681C>A (p.Pro1894Gln) c.5837C>A (p.Pro1946Gln) c.6044C>A (p.Pro2015Gln) c.5345C>A (p.Pro1782Gln) c.6092C>A (p.Pro2031Gln) | gnomAD v4 |
16 | g.3728950G>A | CA394554235 | CREBBP | c.6097C>T (p.Pro2033Ser) c.5983C>T (p.Pro1995Ser) c.6052C>T (p.Pro2018Ser) c.5680C>T (p.Pro1894Ser) c.5836C>T (p.Pro1946Ser) c.6043C>T (p.Pro2015Ser) c.5344C>T (p.Pro1782Ser) c.6091C>T (p.Pro2031Ser) | dbSNP |
16 | g.3728950G>C | CA394554238 | CREBBP | c.6097C>G (p.Pro2033Ala) c.5983C>G (p.Pro1995Ala) c.6052C>G (p.Pro2018Ala) c.5680C>G (p.Pro1894Ala) c.5836C>G (p.Pro1946Ala) c.6043C>G (p.Pro2015Ala) c.5344C>G (p.Pro1782Ala) c.6091C>G (p.Pro2031Ala) | dbSNP |
16 | g.3728950G>T | CA394554237 | CREBBP | c.6097C>A (p.Pro2033Thr) c.5983C>A (p.Pro1995Thr) c.6052C>A (p.Pro2018Thr) c.5680C>A (p.Pro1894Thr) c.5836C>A (p.Pro1946Thr) c.6043C>A (p.Pro2015Thr) c.5344C>A (p.Pro1782Thr) c.6091C>A (p.Pro2031Thr) | dbSNP |
16 | g.3728951C>A | CA394554240 | CREBBP | c.6096G>T (p.Met2032Ile) c.5982G>T (p.Met1994Ile) c.6051G>T (p.Met2017Ile) c.5679G>T (p.Met1893Ile) c.5835G>T (p.Met1945Ile) c.6042G>T (p.Met2014Ile) c.5343G>T (p.Met1781Ile) c.6090G>T (p.Met2030Ile) | dbSNP gnomAD v4 |
16 | g.3728951C>G | CA394554244 | CREBBP | c.6096G>C (p.Met2032Ile) c.5982G>C (p.Met1994Ile) c.6051G>C (p.Met2017Ile) c.5679G>C (p.Met1893Ile) c.5835G>C (p.Met1945Ile) c.6042G>C (p.Met2014Ile) c.5343G>C (p.Met1781Ile) c.6090G>C (p.Met2030Ile) | dbSNP |
16 | g.3728951C>T | CA394554242 | CREBBP | c.6096G>A (p.Met2032Ile) c.5982G>A (p.Met1994Ile) c.6051G>A (p.Met2017Ile) c.5679G>A (p.Met1893Ile) c.5835G>A (p.Met1945Ile) c.6042G>A (p.Met2014Ile) c.5343G>A (p.Met1781Ile) c.6090G>A (p.Met2030Ile) | dbSNP |
16 | g.3728952A>C | CA394554245 | CREBBP | c.6095T>G (p.Met2032Arg) c.5981T>G (p.Met1994Arg) c.6050T>G (p.Met2017Arg) c.5678T>G (p.Met1893Arg) c.5834T>G (p.Met1945Arg) c.6041T>G (p.Met2014Arg) c.5342T>G (p.Met1781Arg) c.6089T>G (p.Met2030Arg) | dbSNP |
16 | g.3728952A>G | CA394554247 | CREBBP | c.6095T>C (p.Met2032Thr) c.5981T>C (p.Met1994Thr) c.6050T>C (p.Met2017Thr) c.5678T>C (p.Met1893Thr) c.5834T>C (p.Met1945Thr) c.6041T>C (p.Met2014Thr) c.5342T>C (p.Met1781Thr) c.6089T>C (p.Met2030Thr) | dbSNP |
16 | g.3728952A>T | CA394554249 | CREBBP | c.6095T>A (p.Met2032Lys) c.5981T>A (p.Met1994Lys) c.6050T>A (p.Met2017Lys) c.5678T>A (p.Met1893Lys) c.5834T>A (p.Met1945Lys) c.6041T>A (p.Met2014Lys) c.5342T>A (p.Met1781Lys) c.6089T>A (p.Met2030Lys) | dbSNP |
16 | g.3728953T>A | CA394554251 | CREBBP | c.6094A>T (p.Met2032Leu) c.5980A>T (p.Met1994Leu) c.6049A>T (p.Met2017Leu) c.5677A>T (p.Met1893Leu) c.5833A>T (p.Met1945Leu) c.6040A>T (p.Met2014Leu) c.5341A>T (p.Met1781Leu) c.6088A>T (p.Met2030Leu) | |
16 | g.3728953T>C | CA394554253 | CREBBP | c.6094A>G (p.Met2032Val) c.5980A>G (p.Met1994Val) c.6049A>G (p.Met2017Val) c.5677A>G (p.Met1893Val) c.5833A>G (p.Met1945Val) c.6040A>G (p.Met2014Val) c.5341A>G (p.Met1781Val) c.6088A>G (p.Met2030Val) | |
16 | g.3728953T>G | CA394554255 | CREBBP | c.6094A>C (p.Met2032Leu) c.5980A>C (p.Met1994Leu) c.6049A>C (p.Met2017Leu) c.5677A>C (p.Met1893Leu) c.5833A>C (p.Met1945Leu) c.6040A>C (p.Met2014Leu) c.5341A>C (p.Met1781Leu) c.6088A>C (p.Met2030Leu) | |
16 | g.3728954G>A | CA493393859 | CREBBP | c.6093C>T (p.Pro2031=) c.5979C>T (p.Pro1993=) c.6048C>T (p.Pro2016=) c.5676C>T (p.Pro1892=) c.5832C>T (p.Pro1944=) c.6039C>T (p.Pro2013=) c.5340C>T (p.Pro1780=) c.6087C>T (p.Pro2029=) | dbSNP |
16 | g.3728954G>C | CA493393858 | CREBBP | c.6093C>G (p.Pro2031=) c.5979C>G (p.Pro1993=) c.6048C>G (p.Pro2016=) c.5676C>G (p.Pro1892=) c.5832C>G (p.Pro1944=) c.6039C>G (p.Pro2013=) c.5340C>G (p.Pro1780=) c.6087C>G (p.Pro2029=) | dbSNP gnomAD v4 |
16 | g.3728954G>T | CA493393856 | CREBBP | c.6093C>A (p.Pro2031=) c.5979C>A (p.Pro1993=) c.6048C>A (p.Pro2016=) c.5676C>A (p.Pro1892=) c.5832C>A (p.Pro1944=) c.6039C>A (p.Pro2013=) c.5340C>A (p.Pro1780=) c.6087C>A (p.Pro2029=) | dbSNP gnomAD v4 |
16 | g.3728956dup | CA2840860806 | CREBBP | c.6093dup (p.Met2032HisfsTer?) c.5979dup (p.Met1994HisfsTer?) c.6048dup (p.Met2017HisfsTer?) c.5676dup (p.Met1893HisfsTer?) c.5832dup (p.Met1945HisfsTer?) c.6039dup (p.Met2014HisfsTer?) c.5340dup (p.Met1781HisfsTer?) c.6087dup (p.Met2030HisfsTer?) | |
16 | g.3728955G>A | CA394554257 | CREBBP | c.6092C>T (p.Pro2031Leu) c.5978C>T (p.Pro1993Leu) c.6047C>T (p.Pro2016Leu) c.5675C>T (p.Pro1892Leu) c.5831C>T (p.Pro1944Leu) c.6038C>T (p.Pro2013Leu) c.5339C>T (p.Pro1780Leu) c.6086C>T (p.Pro2029Leu) | |
16 | g.3728955G>C | CA394554259 | CREBBP | c.6092C>G (p.Pro2031Arg) c.5978C>G (p.Pro1993Arg) c.6047C>G (p.Pro2016Arg) c.5675C>G (p.Pro1892Arg) c.5831C>G (p.Pro1944Arg) c.6038C>G (p.Pro2013Arg) c.5339C>G (p.Pro1780Arg) c.6086C>G (p.Pro2029Arg) | |
16 | g.3728955G= | CA2202916131 | CREBBP | c.6092C= (p.Pro2031=) c.5978C= (p.Pro1993=) c.6047C= (p.Pro2016=) c.5675C= (p.Pro1892=) c.5831C= (p.Pro1944=) c.6038C= (p.Pro2013=) c.5339C= (p.Pro1780=) c.6086C= (p.Pro2029=) | |
16 | g.3728955G>T | CA394554261 | CREBBP | c.6092C>A (p.Pro2031His) c.5978C>A (p.Pro1993His) c.6047C>A (p.Pro2016His) c.5675C>A (p.Pro1892His) c.5831C>A (p.Pro1944His) c.6038C>A (p.Pro2013His) c.5339C>A (p.Pro1780His) c.6086C>A (p.Pro2029His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728956G>A | CA394554267 | CREBBP | c.6091C>T (p.Pro2031Ser) c.5977C>T (p.Pro1993Ser) c.6046C>T (p.Pro2016Ser) c.5674C>T (p.Pro1892Ser) c.5830C>T (p.Pro1944Ser) c.6037C>T (p.Pro2013Ser) c.5338C>T (p.Pro1780Ser) c.6085C>T (p.Pro2029Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728956G>C | CA394554265 | CREBBP | c.6091C>G (p.Pro2031Ala) c.5977C>G (p.Pro1993Ala) c.6046C>G (p.Pro2016Ala) c.5674C>G (p.Pro1892Ala) c.5830C>G (p.Pro1944Ala) c.6037C>G (p.Pro2013Ala) c.5338C>G (p.Pro1780Ala) c.6085C>G (p.Pro2029Ala) | dbSNP |
16 | g.3728956G= | CA2202916132 | CREBBP | c.6091C= (p.Pro2031=) c.5977C= (p.Pro1993=) c.6046C= (p.Pro2016=) c.5674C= (p.Pro1892=) c.5830C= (p.Pro1944=) c.6037C= (p.Pro2013=) c.5338C= (p.Pro1780=) c.6085C= (p.Pro2029=) | |
16 | g.3728956G>T | CA394554263 | CREBBP | c.6091C>A (p.Pro2031Thr) c.5977C>A (p.Pro1993Thr) c.6046C>A (p.Pro2016Thr) c.5674C>A (p.Pro1892Thr) c.5830C>A (p.Pro1944Thr) c.6037C>A (p.Pro2013Thr) c.5338C>A (p.Pro1780Thr) c.6085C>A (p.Pro2029Thr) | dbSNP gnomAD v4 |
16 | g.3728957C>A | CA394554270 | CREBBP | c.6090G>T (p.Gln2030His) c.5976G>T (p.Gln1992His) c.6045G>T (p.Gln2015His) c.5673G>T (p.Gln1891His) c.5829G>T (p.Gln1943His) c.6036G>T (p.Gln2012His) c.5337G>T (p.Gln1779His) c.6084G>T (p.Gln2028His) | gnomAD v4 |
16 | g.3728957C= | CA2202916133 | CREBBP | c.6090G= (p.Gln2030=) c.5976G= (p.Gln1992=) c.6045G= (p.Gln2015=) c.5673G= (p.Gln1891=) c.5829G= (p.Gln1943=) c.6036G= (p.Gln2012=) c.5337G= (p.Gln1779=) c.6084G= (p.Gln2028=) | |
16 | g.3728957C>G | CA394554271 | CREBBP | c.6090G>C (p.Gln2030His) c.5976G>C (p.Gln1992His) c.6045G>C (p.Gln2015His) c.5673G>C (p.Gln1891His) c.5829G>C (p.Gln1943His) c.6036G>C (p.Gln2012His) c.5337G>C (p.Gln1779His) c.6084G>C (p.Gln2028His) | dbSNP |
16 | g.3728957C>T | CA171802 | CREBBP | c.6090G>A (p.Gln2030=) c.5976G>A (p.Gln1992=) c.6045G>A (p.Gln2015=) c.5673G>A (p.Gln1891=) c.5829G>A (p.Gln1943=) c.6036G>A (p.Gln2012=) c.5337G>A (p.Gln1779=) c.6084G>A (p.Gln2028=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728958T>A | CA394554274 | CREBBP | c.6089A>T (p.Gln2030Leu) c.5975A>T (p.Gln1992Leu) c.6044A>T (p.Gln2015Leu) c.5672A>T (p.Gln1891Leu) c.5828A>T (p.Gln1943Leu) c.6035A>T (p.Gln2012Leu) c.5336A>T (p.Gln1779Leu) c.6083A>T (p.Gln2028Leu) | dbSNP |
16 | g.3728958T>C | CA394554276 | CREBBP | c.6089A>G (p.Gln2030Arg) c.5975A>G (p.Gln1992Arg) c.6044A>G (p.Gln2015Arg) c.5672A>G (p.Gln1891Arg) c.5828A>G (p.Gln1943Arg) c.6035A>G (p.Gln2012Arg) c.5336A>G (p.Gln1779Arg) c.6083A>G (p.Gln2028Arg) | dbSNP |
16 | g.3728958T>G | CA276971782 | CREBBP | c.6089A>C (p.Gln2030Pro) c.5975A>C (p.Gln1992Pro) c.6044A>C (p.Gln2015Pro) c.5672A>C (p.Gln1891Pro) c.5828A>C (p.Gln1943Pro) c.6035A>C (p.Gln2012Pro) c.5336A>C (p.Gln1779Pro) c.6083A>C (p.Gln2028Pro) | dbSNP |
16 | g.3728958T= | CA2202916134 | CREBBP | c.6089A= (p.Gln2030=) c.5975A= (p.Gln1992=) c.6044A= (p.Gln2015=) c.5672A= (p.Gln1891=) c.5828A= (p.Gln1943=) c.6035A= (p.Gln2012=) c.5336A= (p.Gln1779=) c.6083A= (p.Gln2028=) | |
16 | g.3728959G>A | CA271436 | CREBBP | c.6088C>T (p.Gln2030Ter) c.5974C>T (p.Gln1992Ter) c.6043C>T (p.Gln2015Ter) c.5671C>T (p.Gln1891Ter) c.5827C>T (p.Gln1943Ter) c.6034C>T (p.Gln2012Ter) c.5335C>T (p.Gln1779Ter) c.6082C>T (p.Gln2028Ter) | ClinVar dbSNP gnomAD v4 |
16 | g.3728959G>C | CA394554280 | CREBBP | c.6088C>G (p.Gln2030Glu) c.5974C>G (p.Gln1992Glu) c.6043C>G (p.Gln2015Glu) c.5671C>G (p.Gln1891Glu) c.5827C>G (p.Gln1943Glu) c.6034C>G (p.Gln2012Glu) c.5335C>G (p.Gln1779Glu) c.6082C>G (p.Gln2028Glu) | |
16 | g.3728959G= | CA2202916135 | CREBBP | c.6088C= (p.Gln2030=) c.5974C= (p.Gln1992=) c.6043C= (p.Gln2015=) c.5671C= (p.Gln1891=) c.5827C= (p.Gln1943=) c.6034C= (p.Gln2012=) c.5335C= (p.Gln1779=) c.6082C= (p.Gln2028=) | |
16 | g.3728959G>T | CA394554282 | CREBBP | c.6088C>A (p.Gln2030Lys) c.5974C>A (p.Gln1992Lys) c.6043C>A (p.Gln2015Lys) c.5671C>A (p.Gln1891Lys) c.5827C>A (p.Gln1943Lys) c.6034C>A (p.Gln2012Lys) c.5335C>A (p.Gln1779Lys) c.6082C>A (p.Gln2028Lys) | gnomAD v4 |
16 | g.3728960C>A | CA394554284 | CREBBP | c.6087G>T (p.Gln2029His) c.5973G>T (p.Gln1991His) c.6042G>T (p.Gln2014His) c.5670G>T (p.Gln1890His) c.5826G>T (p.Gln1942His) c.6033G>T (p.Gln2011His) c.5334G>T (p.Gln1778His) c.6081G>T (p.Gln2027His) | COSMIC |
16 | g.3728960C= | CA2202916136 | CREBBP | c.6087G= (p.Gln2029=) c.5973G= (p.Gln1991=) c.6042G= (p.Gln2014=) c.5670G= (p.Gln1890=) c.5826G= (p.Gln1942=) c.6033G= (p.Gln2011=) c.5334G= (p.Gln1778=) c.6081G= (p.Gln2027=) | |
16 | g.3728960C>G | CA394554286 | CREBBP | c.6087G>C (p.Gln2029His) c.5973G>C (p.Gln1991His) c.6042G>C (p.Gln2014His) c.5670G>C (p.Gln1890His) c.5826G>C (p.Gln1942His) c.6033G>C (p.Gln2011His) c.5334G>C (p.Gln1778His) c.6081G>C (p.Gln2027His) | dbSNP |
16 | g.3728960C>T | CA493393864 | CREBBP | c.6087G>A (p.Gln2029=) c.5973G>A (p.Gln1991=) c.6042G>A (p.Gln2014=) c.5670G>A (p.Gln1890=) c.5826G>A (p.Gln1942=) c.6033G>A (p.Gln2011=) c.5334G>A (p.Gln1778=) c.6081G>A (p.Gln2027=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728961T>A | CA394554289 | CREBBP | c.6086A>T (p.Gln2029Leu) c.5972A>T (p.Gln1991Leu) c.6041A>T (p.Gln2014Leu) c.5669A>T (p.Gln1890Leu) c.5825A>T (p.Gln1942Leu) c.6032A>T (p.Gln2011Leu) c.5333A>T (p.Gln1778Leu) c.6080A>T (p.Gln2027Leu) | dbSNP |
16 | g.3728961T>C | CA394554291 | CREBBP | c.6086A>G (p.Gln2029Arg) c.5972A>G (p.Gln1991Arg) c.6041A>G (p.Gln2014Arg) c.5669A>G (p.Gln1890Arg) c.5825A>G (p.Gln1942Arg) c.6032A>G (p.Gln2011Arg) c.5333A>G (p.Gln1778Arg) c.6080A>G (p.Gln2027Arg) | |
16 | g.3728961T>G | CA394554287 | CREBBP | c.6086A>C (p.Gln2029Pro) c.5972A>C (p.Gln1991Pro) c.6041A>C (p.Gln2014Pro) c.5669A>C (p.Gln1890Pro) c.5825A>C (p.Gln1942Pro) c.6032A>C (p.Gln2011Pro) c.5333A>C (p.Gln1778Pro) c.6080A>C (p.Gln2027Pro) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728961T= | CA2202916137 | CREBBP | c.6086A= (p.Gln2029=) c.5972A= (p.Gln1991=) c.6041A= (p.Gln2014=) c.5669A= (p.Gln1890=) c.5825A= (p.Gln1942=) c.6032A= (p.Gln2011=) c.5333A= (p.Gln1778=) c.6080A= (p.Gln2027=) | |
16 | g.3728968_3729007del | CA2631403143 | CREBBP | c.6047_6086del (p.Met2016SerfsTer11) c.5933_5972del (p.Met1978SerfsTer11) c.6002_6041del (p.Met2001SerfsTer11) c.5630_5669del (p.Met1877SerfsTer11) c.5786_5825del (p.Met1929SerfsTer11) c.5993_6032del (p.Met1998SerfsTer11) c.5294_5333del (p.Met1765SerfsTer11) c.6041_6080del (p.Met2014SerfsTer11) | gnomAD v4 |
16 | g.3728962G>A | CA394554293 | CREBBP | c.6085C>T (p.Gln2029Ter) c.5971C>T (p.Gln1991Ter) c.6040C>T (p.Gln2014Ter) c.5668C>T (p.Gln1890Ter) c.5824C>T (p.Gln1942Ter) c.6031C>T (p.Gln2011Ter) c.5332C>T (p.Gln1778Ter) c.6079C>T (p.Gln2027Ter) | dbSNP |
16 | g.3728962G>C | CA394554295 | CREBBP | c.6085C>G (p.Gln2029Glu) c.5971C>G (p.Gln1991Glu) c.6040C>G (p.Gln2014Glu) c.5668C>G (p.Gln1890Glu) c.5824C>G (p.Gln1942Glu) c.6031C>G (p.Gln2011Glu) c.5332C>G (p.Gln1778Glu) c.6079C>G (p.Gln2027Glu) | |
16 | g.3728962G>T | CA394554297 | CREBBP | c.6085C>A (p.Gln2029Lys) c.5971C>A (p.Gln1991Lys) c.6040C>A (p.Gln2014Lys) c.5668C>A (p.Gln1890Lys) c.5824C>A (p.Gln1942Lys) c.6031C>A (p.Gln2011Lys) c.5332C>A (p.Gln1778Lys) c.6079C>A (p.Gln2027Lys) | gnomAD v4 |
16 | g.3728963C>A | CA394554299 | CREBBP | c.6084G>T (p.Gln2028His) c.5970G>T (p.Gln1990His) c.6039G>T (p.Gln2013His) c.5667G>T (p.Gln1889His) c.5823G>T (p.Gln1941His) c.6030G>T (p.Gln2010His) c.5331G>T (p.Gln1777His) c.6078G>T (p.Gln2026His) | |
16 | g.3728963C= | CA2202916138 | CREBBP | c.6084G= (p.Gln2028=) c.5970G= (p.Gln1990=) c.6039G= (p.Gln2013=) c.5667G= (p.Gln1889=) c.5823G= (p.Gln1941=) c.6030G= (p.Gln2010=) c.5331G= (p.Gln1777=) c.6078G= (p.Gln2026=) | |
16 | g.3728963C>G | CA394554301 | CREBBP | c.6084G>C (p.Gln2028His) c.5970G>C (p.Gln1990His) c.6039G>C (p.Gln2013His) c.5667G>C (p.Gln1889His) c.5823G>C (p.Gln1941His) c.6030G>C (p.Gln2010His) c.5331G>C (p.Gln1777His) c.6078G>C (p.Gln2026His) | |
16 | g.3728963C>T | CA7869183 | CREBBP | c.6084G>A (p.Gln2028=) c.5970G>A (p.Gln1990=) c.6039G>A (p.Gln2013=) c.5667G>A (p.Gln1889=) c.5823G>A (p.Gln1941=) c.6030G>A (p.Gln2010=) c.5331G>A (p.Gln1777=) c.6078G>A (p.Gln2026=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728964T>A | CA394554304 | CREBBP | c.6083A>T (p.Gln2028Leu) c.5969A>T (p.Gln1990Leu) c.6038A>T (p.Gln2013Leu) c.5666A>T (p.Gln1889Leu) c.5822A>T (p.Gln1941Leu) c.6029A>T (p.Gln2010Leu) c.5330A>T (p.Gln1777Leu) c.6077A>T (p.Gln2026Leu) | |
16 | g.3728964T>C | CA394554306 | CREBBP | c.6083A>G (p.Gln2028Arg) c.5969A>G (p.Gln1990Arg) c.6038A>G (p.Gln2013Arg) c.5666A>G (p.Gln1889Arg) c.5822A>G (p.Gln1941Arg) c.6029A>G (p.Gln2010Arg) c.5330A>G (p.Gln1777Arg) c.6077A>G (p.Gln2026Arg) | |
16 | g.3728964T>G | CA394554308 | CREBBP | c.6083A>C (p.Gln2028Pro) c.5969A>C (p.Gln1990Pro) c.6038A>C (p.Gln2013Pro) c.5666A>C (p.Gln1889Pro) c.5822A>C (p.Gln1941Pro) c.6029A>C (p.Gln2010Pro) c.5330A>C (p.Gln1777Pro) c.6077A>C (p.Gln2026Pro) | |
16 | g.3728965G>A | CA394554309 | CREBBP | c.6082C>T (p.Gln2028Ter) c.5968C>T (p.Gln1990Ter) c.6037C>T (p.Gln2013Ter) c.5665C>T (p.Gln1889Ter) c.5821C>T (p.Gln1941Ter) c.6028C>T (p.Gln2010Ter) c.5329C>T (p.Gln1777Ter) c.6076C>T (p.Gln2026Ter) | gnomAD v4 |
16 | g.3728965G>C | CA394554311 | CREBBP | c.6082C>G (p.Gln2028Glu) c.5968C>G (p.Gln1990Glu) c.6037C>G (p.Gln2013Glu) c.5665C>G (p.Gln1889Glu) c.5821C>G (p.Gln1941Glu) c.6028C>G (p.Gln2010Glu) c.5329C>G (p.Gln1777Glu) c.6076C>G (p.Gln2026Glu) | |
16 | g.3728965G>T | CA394554313 | CREBBP | c.6082C>A (p.Gln2028Lys) c.5968C>A (p.Gln1990Lys) c.6037C>A (p.Gln2013Lys) c.5665C>A (p.Gln1889Lys) c.5821C>A (p.Gln1941Lys) c.6028C>A (p.Gln2010Lys) c.5329C>A (p.Gln1777Lys) c.6076C>A (p.Gln2026Lys) | gnomAD v4 |
16 | g.3728966G>A | CA493393870 | CREBBP | c.6081C>T (p.Pro2027=) c.5967C>T (p.Pro1989=) c.6036C>T (p.Pro2012=) c.5664C>T (p.Pro1888=) c.5820C>T (p.Pro1940=) c.6027C>T (p.Pro2009=) c.5328C>T (p.Pro1776=) c.6075C>T (p.Pro2025=) | dbSNP gnomAD v4 |
16 | g.3728966G>C | CA493393871 | CREBBP | c.6081C>G (p.Pro2027=) c.5967C>G (p.Pro1989=) c.6036C>G (p.Pro2012=) c.5664C>G (p.Pro1888=) c.5820C>G (p.Pro1940=) c.6027C>G (p.Pro2009=) c.5328C>G (p.Pro1776=) c.6075C>G (p.Pro2025=) | dbSNP gnomAD v4 |
16 | g.3728966G>T | CA493393872 | CREBBP | c.6081C>A (p.Pro2027=) c.5967C>A (p.Pro1989=) c.6036C>A (p.Pro2012=) c.5664C>A (p.Pro1888=) c.5820C>A (p.Pro1940=) c.6027C>A (p.Pro2009=) c.5328C>A (p.Pro1776=) c.6075C>A (p.Pro2025=) | dbSNP gnomAD v4 |
16 | g.3728967G>A | CA394554317 | CREBBP | c.6080C>T (p.Pro2027Leu) c.5966C>T (p.Pro1989Leu) c.6035C>T (p.Pro2012Leu) c.5663C>T (p.Pro1888Leu) c.5819C>T (p.Pro1940Leu) c.6026C>T (p.Pro2009Leu) c.5327C>T (p.Pro1776Leu) c.6074C>T (p.Pro2025Leu) | dbSNP gnomAD v4 COSMIC |
16 | g.3728967G>C | CA394554314 | CREBBP | c.6080C>G (p.Pro2027Arg) c.5966C>G (p.Pro1989Arg) c.6035C>G (p.Pro2012Arg) c.5663C>G (p.Pro1888Arg) c.5819C>G (p.Pro1940Arg) c.6026C>G (p.Pro2009Arg) c.5327C>G (p.Pro1776Arg) c.6074C>G (p.Pro2025Arg) | |
16 | g.3728967G>T | CA394554316 | CREBBP | c.6080C>A (p.Pro2027His) c.5966C>A (p.Pro1989His) c.6035C>A (p.Pro2012His) c.5663C>A (p.Pro1888His) c.5819C>A (p.Pro1940His) c.6026C>A (p.Pro2009His) c.5327C>A (p.Pro1776His) c.6074C>A (p.Pro2025His) | dbSNP gnomAD v4 |
16 | g.3728968G>A | CA394554320 | CREBBP | c.6079C>T (p.Pro2027Ser) c.5965C>T (p.Pro1989Ser) c.6034C>T (p.Pro2012Ser) c.5662C>T (p.Pro1888Ser) c.5818C>T (p.Pro1940Ser) c.6025C>T (p.Pro2009Ser) c.5326C>T (p.Pro1776Ser) c.6073C>T (p.Pro2025Ser) | dbSNP gnomAD v4 |
16 | g.3728968G>C | CA394554321 | CREBBP | c.6079C>G (p.Pro2027Ala) c.5965C>G (p.Pro1989Ala) c.6034C>G (p.Pro2012Ala) c.5662C>G (p.Pro1888Ala) c.5818C>G (p.Pro1940Ala) c.6025C>G (p.Pro2009Ala) c.5326C>G (p.Pro1776Ala) c.6073C>G (p.Pro2025Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728968G= | CA2202916139 | CREBBP | c.6079C= (p.Pro2027=) c.5965C= (p.Pro1989=) c.6034C= (p.Pro2012=) c.5662C= (p.Pro1888=) c.5818C= (p.Pro1940=) c.6025C= (p.Pro2009=) c.5326C= (p.Pro1776=) c.6073C= (p.Pro2025=) | |
16 | g.3728968G>T | CA394554323 | CREBBP | c.6079C>A (p.Pro2027Thr) c.5965C>A (p.Pro1989Thr) c.6034C>A (p.Pro2012Thr) c.5662C>A (p.Pro1888Thr) c.5818C>A (p.Pro1940Thr) c.6025C>A (p.Pro2009Thr) c.5326C>A (p.Pro1776Thr) c.6073C>A (p.Pro2025Thr) | dbSNP gnomAD v4 |
16 | g.3728969A>C | CA493393876 | CREBBP | c.6078T>G (p.Leu2026=) c.5964T>G (p.Leu1988=) c.6033T>G (p.Leu2011=) c.5661T>G (p.Leu1887=) c.5817T>G (p.Leu1939=) c.6024T>G (p.Leu2008=) c.5325T>G (p.Leu1775=) c.6072T>G (p.Leu2024=) | dbSNP |
16 | g.3728969A>G | CA493393879 | CREBBP | c.6078T>C (p.Leu2026=) c.5964T>C (p.Leu1988=) c.6033T>C (p.Leu2011=) c.5661T>C (p.Leu1887=) c.5817T>C (p.Leu1939=) c.6024T>C (p.Leu2008=) c.5325T>C (p.Leu1775=) c.6072T>C (p.Leu2024=) | dbSNP |
16 | g.3728969A>T | CA493393880 | CREBBP | c.6078T>A (p.Leu2026=) c.5964T>A (p.Leu1988=) c.6033T>A (p.Leu2011=) c.5661T>A (p.Leu1887=) c.5817T>A (p.Leu1939=) c.6024T>A (p.Leu2008=) c.5325T>A (p.Leu1775=) c.6072T>A (p.Leu2024=) | dbSNP |
16 | g.3728970A= | CA2202916140 | CREBBP | c.6077T= (p.Leu2026=) c.5963T= (p.Leu1988=) c.6032T= (p.Leu2011=) c.5660T= (p.Leu1887=) c.5816T= (p.Leu1939=) c.6023T= (p.Leu2008=) c.5324T= (p.Leu1775=) c.6071T= (p.Leu2024=) | |
16 | g.3728970A>C | CA394554327 | CREBBP | c.6077T>G (p.Leu2026Arg) c.5963T>G (p.Leu1988Arg) c.6032T>G (p.Leu2011Arg) c.5660T>G (p.Leu1887Arg) c.5816T>G (p.Leu1939Arg) c.6023T>G (p.Leu2008Arg) c.5324T>G (p.Leu1775Arg) c.6071T>G (p.Leu2024Arg) | |
16 | g.3728970A>G | CA394554328 | CREBBP | c.6077T>C (p.Leu2026Pro) c.5963T>C (p.Leu1988Pro) c.6032T>C (p.Leu2011Pro) c.5660T>C (p.Leu1887Pro) c.5816T>C (p.Leu1939Pro) c.6023T>C (p.Leu2008Pro) c.5324T>C (p.Leu1775Pro) c.6071T>C (p.Leu2024Pro) | gnomAD v4 |
16 | g.3728970A>T | CA7869184 | CREBBP | c.6077T>A (p.Leu2026His) c.5963T>A (p.Leu1988His) c.6032T>A (p.Leu2011His) c.5660T>A (p.Leu1887His) c.5816T>A (p.Leu1939His) c.6023T>A (p.Leu2008His) c.5324T>A (p.Leu1775His) c.6071T>A (p.Leu2024His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728971G>A | CA394554331 | CREBBP | c.6076C>T (p.Leu2026Phe) c.5962C>T (p.Leu1988Phe) c.6031C>T (p.Leu2011Phe) c.5659C>T (p.Leu1887Phe) c.5815C>T (p.Leu1939Phe) c.6022C>T (p.Leu2008Phe) c.5323C>T (p.Leu1775Phe) c.6070C>T (p.Leu2024Phe) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728971G>C | CA394554333 | CREBBP | c.6076C>G (p.Leu2026Val) c.5962C>G (p.Leu1988Val) c.6031C>G (p.Leu2011Val) c.5659C>G (p.Leu1887Val) c.5815C>G (p.Leu1939Val) c.6022C>G (p.Leu2008Val) c.5323C>G (p.Leu1775Val) c.6070C>G (p.Leu2024Val) | |
16 | g.3728971G>T | CA394554335 | CREBBP | c.6076C>A (p.Leu2026Ile) c.5962C>A (p.Leu1988Ile) c.6031C>A (p.Leu2011Ile) c.5659C>A (p.Leu1887Ile) c.5815C>A (p.Leu1939Ile) c.6022C>A (p.Leu2008Ile) c.5323C>A (p.Leu1775Ile) c.6070C>A (p.Leu2024Ile) | dbSNP gnomAD v4 |
16 | g.3728974del | CA2631403155 | CREBBP | c.6076del (p.Leu2026PhefsTer14) c.5962del (p.Leu1988PhefsTer14) c.6031del (p.Leu2011PhefsTer14) c.5659del (p.Leu1887PhefsTer14) c.5815del (p.Leu1939PhefsTer14) c.6022del (p.Leu2008PhefsTer14) c.5323del (p.Leu1775PhefsTer14) c.6070del (p.Leu2024PhefsTer14) | gnomAD v4 |
16 | g.3728972G>A | CA7869185 | CREBBP | c.6075C>T (p.Pro2025=) c.5961C>T (p.Pro1987=) c.6030C>T (p.Pro2010=) c.5658C>T (p.Pro1886=) c.5814C>T (p.Pro1938=) c.6021C>T (p.Pro2007=) c.5322C>T (p.Pro1774=) c.6069C>T (p.Pro2023=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728972G>C | CA493393886 | CREBBP | c.6075C>G (p.Pro2025=) c.5961C>G (p.Pro1987=) c.6030C>G (p.Pro2010=) c.5658C>G (p.Pro1886=) c.5814C>G (p.Pro1938=) c.6021C>G (p.Pro2007=) c.5322C>G (p.Pro1774=) c.6069C>G (p.Pro2023=) | dbSNP |
16 | g.3728972G= | CA2202916141 | CREBBP | c.6075C= (p.Pro2025=) c.5961C= (p.Pro1987=) c.6030C= (p.Pro2010=) c.5658C= (p.Pro1886=) c.5814C= (p.Pro1938=) c.6021C= (p.Pro2007=) c.5322C= (p.Pro1774=) c.6069C= (p.Pro2023=) | |
16 | g.3728972G>T | CA493393885 | CREBBP | c.6075C>A (p.Pro2025=) c.5961C>A (p.Pro1987=) c.6030C>A (p.Pro2010=) c.5658C>A (p.Pro1886=) c.5814C>A (p.Pro1938=) c.6021C>A (p.Pro2007=) c.5322C>A (p.Pro1774=) c.6069C>A (p.Pro2023=) | dbSNP gnomAD v4 |
16 | g.3728973G>A | CA276971792 | CREBBP | c.6074C>T (p.Pro2025Leu) c.5960C>T (p.Pro1987Leu) c.6029C>T (p.Pro2010Leu) c.5657C>T (p.Pro1886Leu) c.5813C>T (p.Pro1938Leu) c.6020C>T (p.Pro2007Leu) c.5321C>T (p.Pro1774Leu) c.6068C>T (p.Pro2023Leu) | dbSNP gnomAD v4 |
16 | g.3728973G>C | CA394554340 | CREBBP | c.6074C>G (p.Pro2025Arg) c.5960C>G (p.Pro1987Arg) c.6029C>G (p.Pro2010Arg) c.5657C>G (p.Pro1886Arg) c.5813C>G (p.Pro1938Arg) c.6020C>G (p.Pro2007Arg) c.5321C>G (p.Pro1774Arg) c.6068C>G (p.Pro2023Arg) | dbSNP |
16 | g.3728973G= | CA2202916142 | CREBBP | c.6074C= (p.Pro2025=) c.5960C= (p.Pro1987=) c.6029C= (p.Pro2010=) c.5657C= (p.Pro1886=) c.5813C= (p.Pro1938=) c.6020C= (p.Pro2007=) c.5321C= (p.Pro1774=) c.6068C= (p.Pro2023=) | |
16 | g.3728973G>T | CA394554342 | CREBBP | c.6074C>A (p.Pro2025His) c.5960C>A (p.Pro1987His) c.6029C>A (p.Pro2010His) c.5657C>A (p.Pro1886His) c.5813C>A (p.Pro1938His) c.6020C>A (p.Pro2007His) c.5321C>A (p.Pro1774His) c.6068C>A (p.Pro2023His) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728974G>A | CA394554345 | CREBBP | c.6073C>T (p.Pro2025Ser) c.5959C>T (p.Pro1987Ser) c.6028C>T (p.Pro2010Ser) c.5656C>T (p.Pro1886Ser) c.5812C>T (p.Pro1938Ser) c.6019C>T (p.Pro2007Ser) c.5320C>T (p.Pro1774Ser) c.6067C>T (p.Pro2023Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.3728974G>C | CA394554347 | CREBBP | c.6073C>G (p.Pro2025Ala) c.5959C>G (p.Pro1987Ala) c.6028C>G (p.Pro2010Ala) c.5656C>G (p.Pro1886Ala) c.5812C>G (p.Pro1938Ala) c.6019C>G (p.Pro2007Ala) c.5320C>G (p.Pro1774Ala) c.6067C>G (p.Pro2023Ala) | dbSNP |
16 | g.3728974G>T | CA394554344 | CREBBP | c.6073C>A (p.Pro2025Thr) c.5959C>A (p.Pro1987Thr) c.6028C>A (p.Pro2010Thr) c.5656C>A (p.Pro1886Thr) c.5812C>A (p.Pro1938Thr) c.6019C>A (p.Pro2007Thr) c.5320C>A (p.Pro1774Thr) c.6067C>A (p.Pro2023Thr) | gnomAD v4 |
16 | g.3728975C>A | CA493393892 | CREBBP | c.6072G>T (p.Ala2024=) c.5958G>T (p.Ala1986=) c.6027G>T (p.Ala2009=) c.5655G>T (p.Ala1885=) c.5811G>T (p.Ala1937=) c.6018G>T (p.Ala2006=) c.5319G>T (p.Ala1773=) c.6066G>T (p.Ala2022=) | dbSNP gnomAD v4 |
16 | g.3728975C= | CA2202916143 | CREBBP | c.6072G= (p.Ala2024=) c.5958G= (p.Ala1986=) c.6027G= (p.Ala2009=) c.5655G= (p.Ala1885=) c.5811G= (p.Ala1937=) c.6018G= (p.Ala2006=) c.5319G= (p.Ala1773=) c.6066G= (p.Ala2022=) | |
16 | g.3728975C>G | CA493393895 | CREBBP | c.6072G>C (p.Ala2024=) c.5958G>C (p.Ala1986=) c.6027G>C (p.Ala2009=) c.5655G>C (p.Ala1885=) c.5811G>C (p.Ala1937=) c.6018G>C (p.Ala2006=) c.5319G>C (p.Ala1773=) c.6066G>C (p.Ala2022=) | dbSNP |
16 | g.3728975C>T | CA7869186 | CREBBP | c.6072G>A (p.Ala2024=) c.5958G>A (p.Ala1986=) c.6027G>A (p.Ala2009=) c.5655G>A (p.Ala1885=) c.5811G>A (p.Ala1937=) c.6018G>A (p.Ala2006=) c.5319G>A (p.Ala1773=) c.6066G>A (p.Ala2022=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3728976G>A | CA7869187 | CREBBP | c.6071C>T (p.Ala2024Val) c.5957C>T (p.Ala1986Val) c.6026C>T (p.Ala2009Val) c.5654C>T (p.Ala1885Val) c.5810C>T (p.Ala1937Val) c.6017C>T (p.Ala2006Val) c.5318C>T (p.Ala1773Val) c.6065C>T (p.Ala2022Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728976G>C | CA394554352 | CREBBP | c.6071C>G (p.Ala2024Gly) c.5957C>G (p.Ala1986Gly) c.6026C>G (p.Ala2009Gly) c.5654C>G (p.Ala1885Gly) c.5810C>G (p.Ala1937Gly) c.6017C>G (p.Ala2006Gly) c.5318C>G (p.Ala1773Gly) c.6065C>G (p.Ala2022Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728976G= | CA2202916144 | CREBBP | c.6071C= (p.Ala2024=) c.5957C= (p.Ala1986=) c.6026C= (p.Ala2009=) c.5654C= (p.Ala1885=) c.5810C= (p.Ala1937=) c.6017C= (p.Ala2006=) c.5318C= (p.Ala1773=) c.6065C= (p.Ala2022=) | |
16 | g.3728976G>T | CA394554354 | CREBBP | c.6071C>A (p.Ala2024Glu) c.5957C>A (p.Ala1986Glu) c.6026C>A (p.Ala2009Glu) c.5654C>A (p.Ala1885Glu) c.5810C>A (p.Ala1937Glu) c.6017C>A (p.Ala2006Glu) c.5318C>A (p.Ala1773Glu) c.6065C>A (p.Ala2022Glu) | dbSNP gnomAD v4 |
16 | g.3728979_3728985del | CA2695222618 | CREBBP | c.6065_6071del (p.Gln2022ArgfsTer16) c.5951_5957del (p.Gln1984ArgfsTer16) c.6020_6026del (p.Gln2007ArgfsTer16) c.5648_5654del (p.Gln1883ArgfsTer16) c.5804_5810del (p.Gln1935ArgfsTer16) c.6011_6017del (p.Gln2004ArgfsTer16) c.5312_5318del (p.Gln1771ArgfsTer16) c.6059_6065del (p.Gln2020ArgfsTer16) | |
16 | g.3728977C>A | CA394554356 | CREBBP | c.6070G>T (p.Ala2024Ser) c.5956G>T (p.Ala1986Ser) c.6025G>T (p.Ala2009Ser) c.5653G>T (p.Ala1885Ser) c.5809G>T (p.Ala1937Ser) c.6016G>T (p.Ala2006Ser) c.5317G>T (p.Ala1773Ser) c.6064G>T (p.Ala2022Ser) | dbSNP |
16 | g.3728977C>G | CA394554358 | CREBBP | c.6070G>C (p.Ala2024Pro) c.5956G>C (p.Ala1986Pro) c.6025G>C (p.Ala2009Pro) c.5653G>C (p.Ala1885Pro) c.5809G>C (p.Ala1937Pro) c.6016G>C (p.Ala2006Pro) c.5317G>C (p.Ala1773Pro) c.6064G>C (p.Ala2022Pro) | dbSNP |
16 | g.3728977C>T | CA394554360 | CREBBP | c.6070G>A (p.Ala2024Thr) c.5956G>A (p.Ala1986Thr) c.6025G>A (p.Ala2009Thr) c.5653G>A (p.Ala1885Thr) c.5809G>A (p.Ala1937Thr) c.6016G>A (p.Ala2006Thr) c.5317G>A (p.Ala1773Thr) c.6064G>A (p.Ala2022Thr) | dbSNP |
16 | g.3728978C>A | CA394554362 | CREBBP | c.6069G>T (p.Gln2023His) c.5955G>T (p.Gln1985His) c.6024G>T (p.Gln2008His) c.5652G>T (p.Gln1884His) c.5808G>T (p.Gln1936His) c.6015G>T (p.Gln2005His) c.5316G>T (p.Gln1772His) c.6063G>T (p.Gln2021His) | dbSNP |
16 | g.3728978C= | CA2202916145 | CREBBP | c.6069G= (p.Gln2023=) c.5955G= (p.Gln1985=) c.6024G= (p.Gln2008=) c.5652G= (p.Gln1884=) c.5808G= (p.Gln1936=) c.6015G= (p.Gln2005=) c.5316G= (p.Gln1772=) c.6063G= (p.Gln2021=) | |
16 | g.3728978C>G | CA394554364 | CREBBP | c.6069G>C (p.Gln2023His) c.5955G>C (p.Gln1985His) c.6024G>C (p.Gln2008His) c.5652G>C (p.Gln1884His) c.5808G>C (p.Gln1936His) c.6015G>C (p.Gln2005His) c.5316G>C (p.Gln1772His) c.6063G>C (p.Gln2021His) | dbSNP |
16 | g.3728978C>T | CA493393902 | CREBBP | c.6069G>A (p.Gln2023=) c.5955G>A (p.Gln1985=) c.6024G>A (p.Gln2008=) c.5652G>A (p.Gln1884=) c.5808G>A (p.Gln1936=) c.6015G>A (p.Gln2005=) c.5316G>A (p.Gln1772=) c.6063G>A (p.Gln2021=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728979T>A | CA394554366 | CREBBP | c.6068A>T (p.Gln2023Leu) c.5954A>T (p.Gln1985Leu) c.6023A>T (p.Gln2008Leu) c.5651A>T (p.Gln1884Leu) c.5807A>T (p.Gln1936Leu) c.6014A>T (p.Gln2005Leu) c.5315A>T (p.Gln1772Leu) c.6062A>T (p.Gln2021Leu) | |
16 | g.3728979T>C | CA394554367 | CREBBP | c.6068A>G (p.Gln2023Arg) c.5954A>G (p.Gln1985Arg) c.6023A>G (p.Gln2008Arg) c.5651A>G (p.Gln1884Arg) c.5807A>G (p.Gln1936Arg) c.6014A>G (p.Gln2005Arg) c.5315A>G (p.Gln1772Arg) c.6062A>G (p.Gln2021Arg) | dbSNP |
16 | g.3728979T>G | CA394554369 | CREBBP | c.6068A>C (p.Gln2023Pro) c.5954A>C (p.Gln1985Pro) c.6023A>C (p.Gln2008Pro) c.5651A>C (p.Gln1884Pro) c.5807A>C (p.Gln1936Pro) c.6014A>C (p.Gln2005Pro) c.5315A>C (p.Gln1772Pro) c.6062A>C (p.Gln2021Pro) | |
16 | g.3728980G>A | CA394554372 | CREBBP | c.6067C>T (p.Gln2023Ter) c.5953C>T (p.Gln1985Ter) c.6022C>T (p.Gln2008Ter) c.5650C>T (p.Gln1884Ter) c.5806C>T (p.Gln1936Ter) c.6013C>T (p.Gln2005Ter) c.5314C>T (p.Gln1772Ter) c.6061C>T (p.Gln2021Ter) | dbSNP gnomAD v4 |
16 | g.3728980G>C | CA394554373 | CREBBP | c.6067C>G (p.Gln2023Glu) c.5953C>G (p.Gln1985Glu) c.6022C>G (p.Gln2008Glu) c.5650C>G (p.Gln1884Glu) c.5806C>G (p.Gln1936Glu) c.6013C>G (p.Gln2005Glu) c.5314C>G (p.Gln1772Glu) c.6061C>G (p.Gln2021Glu) | dbSNP gnomAD v4 |
16 | g.3728980G>T | CA394554374 | CREBBP | c.6067C>A (p.Gln2023Lys) c.5953C>A (p.Gln1985Lys) c.6022C>A (p.Gln2008Lys) c.5650C>A (p.Gln1884Lys) c.5806C>A (p.Gln1936Lys) c.6013C>A (p.Gln2005Lys) c.5314C>A (p.Gln1772Lys) c.6061C>A (p.Gln2021Lys) | dbSNP gnomAD v4 |
16 | g.3728981C>A | CA394554376 | CREBBP | c.6066G>T (p.Gln2022His) c.5952G>T (p.Gln1984His) c.6021G>T (p.Gln2007His) c.5649G>T (p.Gln1883His) c.5805G>T (p.Gln1935His) c.6012G>T (p.Gln2004His) c.5313G>T (p.Gln1771His) c.6060G>T (p.Gln2020His) | gnomAD v4 |
16 | g.3728981C>G | CA394554378 | CREBBP | c.6066G>C (p.Gln2022His) c.5952G>C (p.Gln1984His) c.6021G>C (p.Gln2007His) c.5649G>C (p.Gln1883His) c.5805G>C (p.Gln1935His) c.6012G>C (p.Gln2004His) c.5313G>C (p.Gln1771His) c.6060G>C (p.Gln2020His) | |
16 | g.3728981C>T | CA493393910 | CREBBP | c.6066G>A (p.Gln2022=) c.5952G>A (p.Gln1984=) c.6021G>A (p.Gln2007=) c.5649G>A (p.Gln1883=) c.5805G>A (p.Gln1935=) c.6012G>A (p.Gln2004=) c.5313G>A (p.Gln1771=) c.6060G>A (p.Gln2020=) | gnomAD v4 COSMIC |
16 | g.3728982T>A | CA394554379 | CREBBP | c.6065A>T (p.Gln2022Leu) c.5951A>T (p.Gln1984Leu) c.6020A>T (p.Gln2007Leu) c.5648A>T (p.Gln1883Leu) c.5804A>T (p.Gln1935Leu) c.6011A>T (p.Gln2004Leu) c.5312A>T (p.Gln1771Leu) c.6059A>T (p.Gln2020Leu) | dbSNP |
16 | g.3728982T>C | CA394554380 | CREBBP | c.6065A>G (p.Gln2022Arg) c.5951A>G (p.Gln1984Arg) c.6020A>G (p.Gln2007Arg) c.5648A>G (p.Gln1883Arg) c.5804A>G (p.Gln1935Arg) c.6011A>G (p.Gln2004Arg) c.5312A>G (p.Gln1771Arg) c.6059A>G (p.Gln2020Arg) | dbSNP |
16 | g.3728982T>G | CA394554382 | CREBBP | c.6065A>C (p.Gln2022Pro) c.5951A>C (p.Gln1984Pro) c.6020A>C (p.Gln2007Pro) c.5648A>C (p.Gln1883Pro) c.5804A>C (p.Gln1935Pro) c.6011A>C (p.Gln2004Pro) c.5312A>C (p.Gln1771Pro) c.6059A>C (p.Gln2020Pro) | |
16 | g.3728983G>A | CA394554384 | CREBBP | c.6064C>T (p.Gln2022Ter) c.5950C>T (p.Gln1984Ter) c.6019C>T (p.Gln2007Ter) c.5647C>T (p.Gln1883Ter) c.5803C>T (p.Gln1935Ter) c.6010C>T (p.Gln2004Ter) c.5311C>T (p.Gln1771Ter) c.6058C>T (p.Gln2020Ter) | gnomAD v4 |
16 | g.3728983G>C | CA394554386 | CREBBP | c.6064C>G (p.Gln2022Glu) c.5950C>G (p.Gln1984Glu) c.6019C>G (p.Gln2007Glu) c.5647C>G (p.Gln1883Glu) c.5803C>G (p.Gln1935Glu) c.6010C>G (p.Gln2004Glu) c.5311C>G (p.Gln1771Glu) c.6058C>G (p.Gln2020Glu) | gnomAD v4 |
16 | g.3728983G>T | CA394554388 | CREBBP | c.6064C>A (p.Gln2022Lys) c.5950C>A (p.Gln1984Lys) c.6019C>A (p.Gln2007Lys) c.5647C>A (p.Gln1883Lys) c.5803C>A (p.Gln1935Lys) c.6010C>A (p.Gln2004Lys) c.5311C>A (p.Gln1771Lys) c.6058C>A (p.Gln2020Lys) | gnomAD v4 |
16 | g.3728984C>A | CA394554391 | CREBBP | c.6063G>T (p.Trp2021Cys) c.5949G>T (p.Trp1983Cys) c.6018G>T (p.Trp2006Cys) c.5646G>T (p.Trp1882Cys) c.5802G>T (p.Trp1934Cys) c.6009G>T (p.Trp2003Cys) c.5310G>T (p.Trp1770Cys) c.6057G>T (p.Trp2019Cys) | gnomAD v4 |
16 | g.3728984C>G | CA394554392 | CREBBP | c.6063G>C (p.Trp2021Cys) c.5949G>C (p.Trp1983Cys) c.6018G>C (p.Trp2006Cys) c.5646G>C (p.Trp1882Cys) c.5802G>C (p.Trp1934Cys) c.6009G>C (p.Trp2003Cys) c.5310G>C (p.Trp1770Cys) c.6057G>C (p.Trp2019Cys) | |
16 | g.3728984C>T | CA394554393 | CREBBP | c.6063G>A (p.Trp2021Ter) c.5949G>A (p.Trp1983Ter) c.6018G>A (p.Trp2006Ter) c.5646G>A (p.Trp1882Ter) c.5802G>A (p.Trp1934Ter) c.6009G>A (p.Trp2003Ter) c.5310G>A (p.Trp1770Ter) c.6057G>A (p.Trp2019Ter) | gnomAD v4 |
16 | g.3728985C>A | CA394554396 | CREBBP | c.6062G>T (p.Trp2021Leu) c.5948G>T (p.Trp1983Leu) c.6017G>T (p.Trp2006Leu) c.5645G>T (p.Trp1882Leu) c.5801G>T (p.Trp1934Leu) c.6008G>T (p.Trp2003Leu) c.5309G>T (p.Trp1770Leu) c.6056G>T (p.Trp2019Leu) | gnomAD v4 |
16 | g.3728985C= | CA2202916146 | CREBBP | c.6062G= (p.Trp2021=) c.5948G= (p.Trp1983=) c.6017G= (p.Trp2006=) c.5645G= (p.Trp1882=) c.5801G= (p.Trp1934=) c.6008G= (p.Trp2003=) c.5309G= (p.Trp1770=) c.6056G= (p.Trp2019=) | |
16 | g.3728985C>G | CA394554397 | CREBBP | c.6062G>C (p.Trp2021Ser) c.5948G>C (p.Trp1983Ser) c.6017G>C (p.Trp2006Ser) c.5645G>C (p.Trp1882Ser) c.5801G>C (p.Trp1934Ser) c.6008G>C (p.Trp2003Ser) c.5309G>C (p.Trp1770Ser) c.6056G>C (p.Trp2019Ser) | dbSNP |
16 | g.3728985C>T | CA394554399 | CREBBP | c.6062G>A (p.Trp2021Ter) c.5948G>A (p.Trp1983Ter) c.6017G>A (p.Trp2006Ter) c.5645G>A (p.Trp1882Ter) c.5801G>A (p.Trp1934Ter) c.6008G>A (p.Trp2003Ter) c.5309G>A (p.Trp1770Ter) c.6056G>A (p.Trp2019Ter) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728986A>C | CA394554405 | CREBBP | c.6061T>G (p.Trp2021Gly) c.5947T>G (p.Trp1983Gly) c.6016T>G (p.Trp2006Gly) c.5644T>G (p.Trp1882Gly) c.5800T>G (p.Trp1934Gly) c.6007T>G (p.Trp2003Gly) c.5308T>G (p.Trp1770Gly) c.6055T>G (p.Trp2019Gly) | dbSNP |
16 | g.3728986A>G | CA394554403 | CREBBP | c.6061T>C (p.Trp2021Arg) c.5947T>C (p.Trp1983Arg) c.6016T>C (p.Trp2006Arg) c.5644T>C (p.Trp1882Arg) c.5800T>C (p.Trp1934Arg) c.6007T>C (p.Trp2003Arg) c.5308T>C (p.Trp1770Arg) c.6055T>C (p.Trp2019Arg) | dbSNP |
16 | g.3728986A>T | CA394554402 | CREBBP | c.6061T>A (p.Trp2021Arg) c.5947T>A (p.Trp1983Arg) c.6016T>A (p.Trp2006Arg) c.5644T>A (p.Trp1882Arg) c.5800T>A (p.Trp1934Arg) c.6007T>A (p.Trp2003Arg) c.5308T>A (p.Trp1770Arg) c.6055T>A (p.Trp2019Arg) | dbSNP |
16 | g.3728987C>A | CA394554409 | CREBBP | c.6060G>T (p.Gln2020His) c.5946G>T (p.Gln1982His) c.6015G>T (p.Gln2005His) c.5643G>T (p.Gln1881His) c.5799G>T (p.Gln1933His) c.6006G>T (p.Gln2002His) c.5307G>T (p.Gln1769His) c.6054G>T (p.Gln2018His) | dbSNP |
16 | g.3728987C= | CA2202916147 | CREBBP | c.6060G= (p.Gln2020=) c.5946G= (p.Gln1982=) c.6015G= (p.Gln2005=) c.5643G= (p.Gln1881=) c.5799G= (p.Gln1933=) c.6006G= (p.Gln2002=) c.5307G= (p.Gln1769=) c.6054G= (p.Gln2018=) | |
16 | g.3728987C>G | CA394554407 | CREBBP | c.6060G>C (p.Gln2020His) c.5946G>C (p.Gln1982His) c.6015G>C (p.Gln2005His) c.5643G>C (p.Gln1881His) c.5799G>C (p.Gln1933His) c.6006G>C (p.Gln2002His) c.5307G>C (p.Gln1769His) c.6054G>C (p.Gln2018His) | dbSNP gnomAD v4 |
16 | g.3728987C>T | CA493393919 | CREBBP | c.6060G>A (p.Gln2020=) c.5946G>A (p.Gln1982=) c.6015G>A (p.Gln2005=) c.5643G>A (p.Gln1881=) c.5799G>A (p.Gln1933=) c.6006G>A (p.Gln2002=) c.5307G>A (p.Gln1769=) c.6054G>A (p.Gln2018=) | dbSNP |
16 | g.3728988T>A | CA394554412 | CREBBP | c.6059A>T (p.Gln2020Leu) c.5945A>T (p.Gln1982Leu) c.6014A>T (p.Gln2005Leu) c.5642A>T (p.Gln1881Leu) c.5798A>T (p.Gln1933Leu) c.6005A>T (p.Gln2002Leu) c.5306A>T (p.Gln1769Leu) c.6053A>T (p.Gln2018Leu) | dbSNP |
16 | g.3728988T>C | CA394554414 | CREBBP | c.6059A>G (p.Gln2020Arg) c.5945A>G (p.Gln1982Arg) c.6014A>G (p.Gln2005Arg) c.5642A>G (p.Gln1881Arg) c.5798A>G (p.Gln1933Arg) c.6005A>G (p.Gln2002Arg) c.5306A>G (p.Gln1769Arg) c.6053A>G (p.Gln2018Arg) | dbSNP |
16 | g.3728988T>G | CA394554415 | CREBBP | c.6059A>C (p.Gln2020Pro) c.5945A>C (p.Gln1982Pro) c.6014A>C (p.Gln2005Pro) c.5642A>C (p.Gln1881Pro) c.5798A>C (p.Gln1933Pro) c.6005A>C (p.Gln2002Pro) c.5306A>C (p.Gln1769Pro) c.6053A>C (p.Gln2018Pro) | gnomAD v4 |
16 | g.3728989G>A | CA394554416 | CREBBP | c.6058C>T (p.Gln2020Ter) c.5944C>T (p.Gln1982Ter) c.6013C>T (p.Gln2005Ter) c.5641C>T (p.Gln1881Ter) c.5797C>T (p.Gln1933Ter) c.6004C>T (p.Gln2002Ter) c.5305C>T (p.Gln1769Ter) c.6052C>T (p.Gln2018Ter) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728989G>C | CA394554417 | CREBBP | c.6058C>G (p.Gln2020Glu) c.5944C>G (p.Gln1982Glu) c.6013C>G (p.Gln2005Glu) c.5641C>G (p.Gln1881Glu) c.5797C>G (p.Gln1933Glu) c.6004C>G (p.Gln2002Glu) c.5305C>G (p.Gln1769Glu) c.6052C>G (p.Gln2018Glu) | |
16 | g.3728989G= | CA2202916148 | CREBBP | c.6058C= (p.Gln2020=) c.5944C= (p.Gln1982=) c.6013C= (p.Gln2005=) c.5641C= (p.Gln1881=) c.5797C= (p.Gln1933=) c.6004C= (p.Gln2002=) c.5305C= (p.Gln1769=) c.6052C= (p.Gln2018=) | |
16 | g.3728989G>T | CA394554419 | CREBBP | c.6058C>A (p.Gln2020Lys) c.5944C>A (p.Gln1982Lys) c.6013C>A (p.Gln2005Lys) c.5641C>A (p.Gln1881Lys) c.5797C>A (p.Gln1933Lys) c.6004C>A (p.Gln2002Lys) c.5305C>A (p.Gln1769Lys) c.6052C>A (p.Gln2018Lys) | gnomAD v4 |
16 | g.3728990C>A | CA493393924 | CREBBP | c.6057G>T (p.Gly2019=) c.5943G>T (p.Gly1981=) c.6012G>T (p.Gly2004=) c.5640G>T (p.Gly1880=) c.5796G>T (p.Gly1932=) c.6003G>T (p.Gly2001=) c.5304G>T (p.Gly1768=) c.6051G>T (p.Gly2017=) | dbSNP gnomAD v4 |
16 | g.3728990C>G | CA493393926 | CREBBP | c.6057G>C (p.Gly2019=) c.5943G>C (p.Gly1981=) c.6012G>C (p.Gly2004=) c.5640G>C (p.Gly1880=) c.5796G>C (p.Gly1932=) c.6003G>C (p.Gly2001=) c.5304G>C (p.Gly1768=) c.6051G>C (p.Gly2017=) | dbSNP |
16 | g.3728990C>T | CA493393928 | CREBBP | c.6057G>A (p.Gly2019=) c.5943G>A (p.Gly1981=) c.6012G>A (p.Gly2004=) c.5640G>A (p.Gly1880=) c.5796G>A (p.Gly1932=) c.6003G>A (p.Gly2001=) c.5304G>A (p.Gly1768=) c.6051G>A (p.Gly2017=) | dbSNP gnomAD v4 |
16 | g.3728991C>A | CA7869188 | CREBBP | c.6056G>T (p.Gly2019Val) c.5942G>T (p.Gly1981Val) c.6011G>T (p.Gly2004Val) c.5639G>T (p.Gly1880Val) c.5795G>T (p.Gly1932Val) c.6002G>T (p.Gly2001Val) c.5303G>T (p.Gly1768Val) c.6050G>T (p.Gly2017Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728991C= | CA2202916149 | CREBBP | c.6056G= (p.Gly2019=) c.5942G= (p.Gly1981=) c.6011G= (p.Gly2004=) c.5639G= (p.Gly1880=) c.5795G= (p.Gly1932=) c.6002G= (p.Gly2001=) c.5303G= (p.Gly1768=) c.6050G= (p.Gly2017=) | |
16 | g.3728991C>G | CA394554424 | CREBBP | c.6056G>C (p.Gly2019Ala) c.5942G>C (p.Gly1981Ala) c.6011G>C (p.Gly2004Ala) c.5639G>C (p.Gly1880Ala) c.5795G>C (p.Gly1932Ala) c.6002G>C (p.Gly2001Ala) c.5303G>C (p.Gly1768Ala) c.6050G>C (p.Gly2017Ala) | dbSNP |
16 | g.3728991C>T | CA394554422 | CREBBP | c.6056G>A (p.Gly2019Glu) c.5942G>A (p.Gly1981Glu) c.6011G>A (p.Gly2004Glu) c.5639G>A (p.Gly1880Glu) c.5795G>A (p.Gly1932Glu) c.6002G>A (p.Gly2001Glu) c.5303G>A (p.Gly1768Glu) c.6050G>A (p.Gly2017Glu) | dbSNP gnomAD v4 |
16 | g.3728992C>A | CA394554427 | CREBBP | c.6055G>T (p.Gly2019Trp) c.5941G>T (p.Gly1981Trp) c.6010G>T (p.Gly2004Trp) c.5638G>T (p.Gly1880Trp) c.5794G>T (p.Gly1932Trp) c.6001G>T (p.Gly2001Trp) c.5302G>T (p.Gly1768Trp) c.6049G>T (p.Gly2017Trp) | dbSNP gnomAD v4 COSMIC |
16 | g.3728992C= | CA2202916150 | CREBBP | c.6055G= (p.Gly2019=) c.5941G= (p.Gly1981=) c.6010G= (p.Gly2004=) c.5638G= (p.Gly1880=) c.5794G= (p.Gly1932=) c.6001G= (p.Gly2001=) c.5302G= (p.Gly1768=) c.6049G= (p.Gly2017=) | |
16 | g.3728992C>G | CA7869190 | CREBBP | c.6055G>C (p.Gly2019Arg) c.5941G>C (p.Gly1981Arg) c.6010G>C (p.Gly2004Arg) c.5638G>C (p.Gly1880Arg) c.5794G>C (p.Gly1932Arg) c.6001G>C (p.Gly2001Arg) c.5302G>C (p.Gly1768Arg) c.6049G>C (p.Gly2017Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728992C>T | CA7869189 | CREBBP | c.6055G>A (p.Gly2019Arg) c.5941G>A (p.Gly1981Arg) c.6010G>A (p.Gly2004Arg) c.5638G>A (p.Gly1880Arg) c.5794G>A (p.Gly1932Arg) c.6001G>A (p.Gly2001Arg) c.5302G>A (p.Gly1768Arg) c.6049G>A (p.Gly2017Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728993G>A | CA7869191 | CREBBP | c.6054C>T (p.Pro2018=) c.5940C>T (p.Pro1980=) c.6009C>T (p.Pro2003=) c.5637C>T (p.Pro1879=) c.5793C>T (p.Pro1931=) c.6000C>T (p.Pro2000=) c.5301C>T (p.Pro1767=) c.6048C>T (p.Pro2016=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728993G>C | CA493393934 | CREBBP | c.6054C>G (p.Pro2018=) c.5940C>G (p.Pro1980=) c.6009C>G (p.Pro2003=) c.5637C>G (p.Pro1879=) c.5793C>G (p.Pro1931=) c.6000C>G (p.Pro2000=) c.5301C>G (p.Pro1767=) c.6048C>G (p.Pro2016=) | dbSNP gnomAD v4 |
16 | g.3728993G= | CA2202916151 | CREBBP | c.6054C= (p.Pro2018=) c.5940C= (p.Pro1980=) c.6009C= (p.Pro2003=) c.5637C= (p.Pro1879=) c.5793C= (p.Pro1931=) c.6000C= (p.Pro2000=) c.5301C= (p.Pro1767=) c.6048C= (p.Pro2016=) | |
16 | g.3728993G>T | CA493393935 | CREBBP | c.6054C>A (p.Pro2018=) c.5940C>A (p.Pro1980=) c.6009C>A (p.Pro2003=) c.5637C>A (p.Pro1879=) c.5793C>A (p.Pro1931=) c.6000C>A (p.Pro2000=) c.5301C>A (p.Pro1767=) c.6048C>A (p.Pro2016=) | gnomAD v4 |
16 | g.3728995del | CA2631403221 | CREBBP | c.6054del (p.Gln2020SerfsTer20) c.5940del (p.Gln1982SerfsTer20) c.6009del (p.Gln2005SerfsTer20) c.5637del (p.Gln1881SerfsTer20) c.5793del (p.Gln1933SerfsTer20) c.6000del (p.Gln2002SerfsTer20) c.5301del (p.Gln1769SerfsTer20) c.6048del (p.Gln2018SerfsTer20) | gnomAD v4 |
16 | g.3728994G>A | CA394554430 | CREBBP | c.6053C>T (p.Pro2018Leu) c.5939C>T (p.Pro1980Leu) c.6008C>T (p.Pro2003Leu) c.5636C>T (p.Pro1879Leu) c.5792C>T (p.Pro1931Leu) c.5999C>T (p.Pro2000Leu) c.5300C>T (p.Pro1767Leu) c.6047C>T (p.Pro2016Leu) | dbSNP gnomAD v4 |
16 | g.3728994G>C | CA394554433 | CREBBP | c.6053C>G (p.Pro2018Arg) c.5939C>G (p.Pro1980Arg) c.6008C>G (p.Pro2003Arg) c.5636C>G (p.Pro1879Arg) c.5792C>G (p.Pro1931Arg) c.5999C>G (p.Pro2000Arg) c.5300C>G (p.Pro1767Arg) c.6047C>G (p.Pro2016Arg) | dbSNP |
16 | g.3728994G>T | CA394554432 | CREBBP | c.6053C>A (p.Pro2018His) c.5939C>A (p.Pro1980His) c.6008C>A (p.Pro2003His) c.5636C>A (p.Pro1879His) c.5792C>A (p.Pro1931His) c.5999C>A (p.Pro2000His) c.5300C>A (p.Pro1767His) c.6047C>A (p.Pro2016His) | dbSNP gnomAD v4 |
16 | g.3728995G>A | CA7869192 | CREBBP | c.6052C>T (p.Pro2018Ser) c.5938C>T (p.Pro1980Ser) c.6007C>T (p.Pro2003Ser) c.5635C>T (p.Pro1879Ser) c.5791C>T (p.Pro1931Ser) c.5998C>T (p.Pro2000Ser) c.5299C>T (p.Pro1767Ser) c.6046C>T (p.Pro2016Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.3728995G>C | CA394554435 | CREBBP | c.6052C>G (p.Pro2018Ala) c.5938C>G (p.Pro1980Ala) c.6007C>G (p.Pro2003Ala) c.5635C>G (p.Pro1879Ala) c.5791C>G (p.Pro1931Ala) c.5998C>G (p.Pro2000Ala) c.5299C>G (p.Pro1767Ala) c.6046C>G (p.Pro2016Ala) | dbSNP |
16 | g.3728995G= | CA2202916152 | CREBBP | c.6052C= (p.Pro2018=) c.5938C= (p.Pro1980=) c.6007C= (p.Pro2003=) c.5635C= (p.Pro1879=) c.5791C= (p.Pro1931=) c.5998C= (p.Pro2000=) c.5299C= (p.Pro1767=) c.6046C= (p.Pro2016=) | |
16 | g.3728995G>T | CA394554436 | CREBBP | c.6052C>A (p.Pro2018Thr) c.5938C>A (p.Pro1980Thr) c.6007C>A (p.Pro2003Thr) c.5635C>A (p.Pro1879Thr) c.5791C>A (p.Pro1931Thr) c.5998C>A (p.Pro2000Thr) c.5299C>A (p.Pro1767Thr) c.6046C>A (p.Pro2016Thr) | gnomAD v4 |
16 | g.3728996A>C | CA493393938 | CREBBP | c.6051T>G (p.Pro2017=) c.5937T>G (p.Pro1979=) c.6006T>G (p.Pro2002=) c.5634T>G (p.Pro1878=) c.5790T>G (p.Pro1930=) c.5997T>G (p.Pro1999=) c.5298T>G (p.Pro1766=) c.6045T>G (p.Pro2015=) | |
16 | g.3728996A>G | CA493393940 | CREBBP | c.6051T>C (p.Pro2017=) c.5937T>C (p.Pro1979=) c.6006T>C (p.Pro2002=) c.5634T>C (p.Pro1878=) c.5790T>C (p.Pro1930=) c.5997T>C (p.Pro1999=) c.5298T>C (p.Pro1766=) c.6045T>C (p.Pro2015=) | |
16 | g.3728996A>T | CA493393942 | CREBBP | c.6051T>A (p.Pro2017=) c.5937T>A (p.Pro1979=) c.6006T>A (p.Pro2002=) c.5634T>A (p.Pro1878=) c.5790T>A (p.Pro1930=) c.5997T>A (p.Pro1999=) c.5298T>A (p.Pro1766=) c.6045T>A (p.Pro2015=) | |
16 | g.3728997G>A | CA276971797 | CREBBP | c.6050C>T (p.Pro2017Leu) c.5936C>T (p.Pro1979Leu) c.6005C>T (p.Pro2002Leu) c.5633C>T (p.Pro1878Leu) c.5789C>T (p.Pro1930Leu) c.5996C>T (p.Pro1999Leu) c.5297C>T (p.Pro1766Leu) c.6044C>T (p.Pro2015Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728997G>C | CA394554438 | CREBBP | c.6050C>G (p.Pro2017Arg) c.5936C>G (p.Pro1979Arg) c.6005C>G (p.Pro2002Arg) c.5633C>G (p.Pro1878Arg) c.5789C>G (p.Pro1930Arg) c.5996C>G (p.Pro1999Arg) c.5297C>G (p.Pro1766Arg) c.6044C>G (p.Pro2015Arg) | dbSNP gnomAD v4 |
16 | g.3728997G= | CA2202916153 | CREBBP | c.6050C= (p.Pro2017=) c.5936C= (p.Pro1979=) c.6005C= (p.Pro2002=) c.5633C= (p.Pro1878=) c.5789C= (p.Pro1930=) c.5996C= (p.Pro1999=) c.5297C= (p.Pro1766=) c.6044C= (p.Pro2015=) | |
16 | g.3728997G>T | CA394554440 | CREBBP | c.6050C>A (p.Pro2017His) c.5936C>A (p.Pro1979His) c.6005C>A (p.Pro2002His) c.5633C>A (p.Pro1878His) c.5789C>A (p.Pro1930His) c.5996C>A (p.Pro1999His) c.5297C>A (p.Pro1766His) c.6044C>A (p.Pro2015His) | dbSNP gnomAD v4 |
16 | g.3728997_3729003dup | CA2695222619 | CREBBP | c.6044_6050dup (p.Pro2018HisfsTer?) c.5930_5936dup (p.Pro1980HisfsTer?) c.5999_6005dup (p.Pro2003HisfsTer?) c.5627_5633dup (p.Pro1879HisfsTer?) c.5783_5789dup (p.Pro1931HisfsTer?) c.5990_5996dup (p.Pro2000HisfsTer?) c.5291_5297dup (p.Pro1767HisfsTer?) c.6038_6044dup (p.Pro2016HisfsTer?) | |
16 | g.3728998G>A | CA394554443 | CREBBP | c.6049C>T (p.Pro2017Ser) c.5935C>T (p.Pro1979Ser) c.6004C>T (p.Pro2002Ser) c.5632C>T (p.Pro1878Ser) c.5788C>T (p.Pro1930Ser) c.5995C>T (p.Pro1999Ser) c.5296C>T (p.Pro1766Ser) c.6043C>T (p.Pro2015Ser) | dbSNP gnomAD v4 |
16 | g.3728998G>C | CA394554445 | CREBBP | c.6049C>G (p.Pro2017Ala) c.5935C>G (p.Pro1979Ala) c.6004C>G (p.Pro2002Ala) c.5632C>G (p.Pro1878Ala) c.5788C>G (p.Pro1930Ala) c.5995C>G (p.Pro1999Ala) c.5296C>G (p.Pro1766Ala) c.6043C>G (p.Pro2015Ala) | gnomAD v4 |
16 | g.3728998G>T | CA394554446 | CREBBP | c.6049C>A (p.Pro2017Thr) c.5935C>A (p.Pro1979Thr) c.6004C>A (p.Pro2002Thr) c.5632C>A (p.Pro1878Thr) c.5788C>A (p.Pro1930Thr) c.5995C>A (p.Pro1999Thr) c.5296C>A (p.Pro1766Thr) c.6043C>A (p.Pro2015Thr) | gnomAD v4 |
16 | g.3728999C>A | CA394554449 | CREBBP | c.6048G>T (p.Met2016Ile) c.5934G>T (p.Met1978Ile) c.6003G>T (p.Met2001Ile) c.5631G>T (p.Met1877Ile) c.5787G>T (p.Met1929Ile) c.5994G>T (p.Met1998Ile) c.5295G>T (p.Met1765Ile) c.6042G>T (p.Met2014Ile) | gnomAD v4 |
16 | g.3728999C>G | CA394554451 | CREBBP | c.6048G>C (p.Met2016Ile) c.5934G>C (p.Met1978Ile) c.6003G>C (p.Met2001Ile) c.5631G>C (p.Met1877Ile) c.5787G>C (p.Met1929Ile) c.5994G>C (p.Met1998Ile) c.5295G>C (p.Met1765Ile) c.6042G>C (p.Met2014Ile) | dbSNP |
16 | g.3728999C>T | CA394554452 | CREBBP | c.6048G>A (p.Met2016Ile) c.5934G>A (p.Met1978Ile) c.6003G>A (p.Met2001Ile) c.5631G>A (p.Met1877Ile) c.5787G>A (p.Met1929Ile) c.5994G>A (p.Met1998Ile) c.5295G>A (p.Met1765Ile) c.6042G>A (p.Met2014Ile) | dbSNP gnomAD v4 |
16 | g.3729000A>C | CA394554455 | CREBBP | c.6047T>G (p.Met2016Arg) c.5933T>G (p.Met1978Arg) c.6002T>G (p.Met2001Arg) c.5630T>G (p.Met1877Arg) c.5786T>G (p.Met1929Arg) c.5993T>G (p.Met1998Arg) c.5294T>G (p.Met1765Arg) c.6041T>G (p.Met2014Arg) | |
16 | g.3729000A>G | CA394554456 | CREBBP | c.6047T>C (p.Met2016Thr) c.5933T>C (p.Met1978Thr) c.6002T>C (p.Met2001Thr) c.5630T>C (p.Met1877Thr) c.5786T>C (p.Met1929Thr) c.5993T>C (p.Met1998Thr) c.5294T>C (p.Met1765Thr) c.6041T>C (p.Met2014Thr) | gnomAD v4 |
16 | g.3729000A>T | CA394554453 | CREBBP | c.6047T>A (p.Met2016Lys) c.5933T>A (p.Met1978Lys) c.6002T>A (p.Met2001Lys) c.5630T>A (p.Met1877Lys) c.5786T>A (p.Met1929Lys) c.5993T>A (p.Met1998Lys) c.5294T>A (p.Met1765Lys) c.6041T>A (p.Met2014Lys) | dbSNP |
16 | g.3729001T>A | CA394554458 | CREBBP | c.6046A>T (p.Met2016Leu) c.5932A>T (p.Met1978Leu) c.6001A>T (p.Met2001Leu) c.5629A>T (p.Met1877Leu) c.5785A>T (p.Met1929Leu) c.5992A>T (p.Met1998Leu) c.5293A>T (p.Met1765Leu) c.6040A>T (p.Met2014Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729001T>C | CA394554461 | CREBBP | c.6046A>G (p.Met2016Val) c.5932A>G (p.Met1978Val) c.6001A>G (p.Met2001Val) c.5629A>G (p.Met1877Val) c.5785A>G (p.Met1929Val) c.5992A>G (p.Met1998Val) c.5293A>G (p.Met1765Val) c.6040A>G (p.Met2014Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729001T>G | CA394554460 | CREBBP | c.6046A>C (p.Met2016Leu) c.5932A>C (p.Met1978Leu) c.6001A>C (p.Met2001Leu) c.5629A>C (p.Met1877Leu) c.5785A>C (p.Met1929Leu) c.5992A>C (p.Met1998Leu) c.5293A>C (p.Met1765Leu) c.6040A>C (p.Met2014Leu) | dbSNP |
16 | g.3729001T= | CA2202916154 | CREBBP | c.6046A= (p.Met2016=) c.5932A= (p.Met1978=) c.6001A= (p.Met2001=) c.5629A= (p.Met1877=) c.5785A= (p.Met1929=) c.5992A= (p.Met1998=) c.5293A= (p.Met1765=) c.6040A= (p.Met2014=) | |
16 | g.3729002G>A | CA493393950 | CREBBP | c.6045C>T (p.Ser2015=) c.5931C>T (p.Ser1977=) c.6000C>T (p.Ser2000=) c.5628C>T (p.Ser1876=) c.5784C>T (p.Ser1928=) c.5991C>T (p.Ser1997=) c.5292C>T (p.Ser1764=) c.6039C>T (p.Ser2013=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729002G>C | CA394554463 | CREBBP | c.6045C>G (p.Ser2015Arg) c.5931C>G (p.Ser1977Arg) c.6000C>G (p.Ser2000Arg) c.5628C>G (p.Ser1876Arg) c.5784C>G (p.Ser1928Arg) c.5991C>G (p.Ser1997Arg) c.5292C>G (p.Ser1764Arg) c.6039C>G (p.Ser2013Arg) | dbSNP |
16 | g.3729002G= | CA2202916155 | CREBBP | c.6045C= (p.Ser2015=) c.5931C= (p.Ser1977=) c.6000C= (p.Ser2000=) c.5628C= (p.Ser1876=) c.5784C= (p.Ser1928=) c.5991C= (p.Ser1997=) c.5292C= (p.Ser1764=) c.6039C= (p.Ser2013=) | |
16 | g.3729002G>T | CA394554465 | CREBBP | c.6045C>A (p.Ser2015Arg) c.5931C>A (p.Ser1977Arg) c.6000C>A (p.Ser2000Arg) c.5628C>A (p.Ser1876Arg) c.5784C>A (p.Ser1928Arg) c.5991C>A (p.Ser1997Arg) c.5292C>A (p.Ser1764Arg) c.6039C>A (p.Ser2013Arg) | gnomAD v4 |
16 | g.3729003C>A | CA394554467 | CREBBP | c.6044G>T (p.Ser2015Ile) c.5930G>T (p.Ser1977Ile) c.5999G>T (p.Ser2000Ile) c.5627G>T (p.Ser1876Ile) c.5783G>T (p.Ser1928Ile) c.5990G>T (p.Ser1997Ile) c.5291G>T (p.Ser1764Ile) c.6038G>T (p.Ser2013Ile) | dbSNP gnomAD v4 |
16 | g.3729003C>G | CA394554469 | CREBBP | c.6044G>C (p.Ser2015Thr) c.5930G>C (p.Ser1977Thr) c.5999G>C (p.Ser2000Thr) c.5627G>C (p.Ser1876Thr) c.5783G>C (p.Ser1928Thr) c.5990G>C (p.Ser1997Thr) c.5291G>C (p.Ser1764Thr) c.6038G>C (p.Ser2013Thr) | dbSNP gnomAD v4 |
16 | g.3729003C>T | CA394554471 | CREBBP | c.6044G>A (p.Ser2015Asn) c.5930G>A (p.Ser1977Asn) c.5999G>A (p.Ser2000Asn) c.5627G>A (p.Ser1876Asn) c.5783G>A (p.Ser1928Asn) c.5990G>A (p.Ser1997Asn) c.5291G>A (p.Ser1764Asn) c.6038G>A (p.Ser2013Asn) | dbSNP gnomAD v4 |
16 | g.3729004del | CA2695222620 | CREBBP | c.6043del (p.Ser2015AlafsTer25) c.5929del (p.Ser1977AlafsTer25) c.5998del (p.Ser2000AlafsTer25) c.5626del (p.Ser1876AlafsTer25) c.5782del (p.Ser1928AlafsTer25) c.5989del (p.Ser1997AlafsTer25) c.5290del (p.Ser1764AlafsTer25) c.6037del (p.Ser2013AlafsTer25) | |
16 | g.3729004T>A | CA394554474 | CREBBP | c.6043A>T (p.Ser2015Cys) c.5929A>T (p.Ser1977Cys) c.5998A>T (p.Ser2000Cys) c.5626A>T (p.Ser1876Cys) c.5782A>T (p.Ser1928Cys) c.5989A>T (p.Ser1997Cys) c.5290A>T (p.Ser1764Cys) c.6037A>T (p.Ser2013Cys) | |
16 | g.3729004T>C | CA394554476 | CREBBP | c.6043A>G (p.Ser2015Gly) c.5929A>G (p.Ser1977Gly) c.5998A>G (p.Ser2000Gly) c.5626A>G (p.Ser1876Gly) c.5782A>G (p.Ser1928Gly) c.5989A>G (p.Ser1997Gly) c.5290A>G (p.Ser1764Gly) c.6037A>G (p.Ser2013Gly) | gnomAD v4 |
16 | g.3729004T>G | CA394554477 | CREBBP | c.6043A>C (p.Ser2015Arg) c.5929A>C (p.Ser1977Arg) c.5998A>C (p.Ser2000Arg) c.5626A>C (p.Ser1876Arg) c.5782A>C (p.Ser1928Arg) c.5989A>C (p.Ser1997Arg) c.5290A>C (p.Ser1764Arg) c.6037A>C (p.Ser2013Arg) | |
16 | g.3729004dup | CA2573152059 | CREBBP | c.6043dup (p.Ser2015LysfsTer?) c.5929dup (p.Ser1977LysfsTer?) c.5998dup (p.Ser2000LysfsTer?) c.5626dup (p.Ser1876LysfsTer?) c.5782dup (p.Ser1928LysfsTer?) c.5989dup (p.Ser1997LysfsTer?) c.5290dup (p.Ser1764LysfsTer?) c.6037dup (p.Ser2013LysfsTer?) | ClinVar dbSNP |
16 | g.3729005G>A | CA493393960 | CREBBP | c.6042C>T (p.Pro2014=) c.5928C>T (p.Pro1976=) c.5997C>T (p.Pro1999=) c.5625C>T (p.Pro1875=) c.5781C>T (p.Pro1927=) c.5988C>T (p.Pro1996=) c.5289C>T (p.Pro1763=) c.6036C>T (p.Pro2012=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729005G>C | CA493393962 | CREBBP | c.6042C>G (p.Pro2014=) c.5928C>G (p.Pro1976=) c.5997C>G (p.Pro1999=) c.5625C>G (p.Pro1875=) c.5781C>G (p.Pro1927=) c.5988C>G (p.Pro1996=) c.5289C>G (p.Pro1763=) c.6036C>G (p.Pro2012=) | dbSNP |
16 | g.3729005G= | CA2202916156 | CREBBP | c.6042C= (p.Pro2014=) c.5928C= (p.Pro1976=) c.5997C= (p.Pro1999=) c.5625C= (p.Pro1875=) c.5781C= (p.Pro1927=) c.5988C= (p.Pro1996=) c.5289C= (p.Pro1763=) c.6036C= (p.Pro2012=) | |
16 | g.3729005G>T | CA493393961 | CREBBP | c.6042C>A (p.Pro2014=) c.5928C>A (p.Pro1976=) c.5997C>A (p.Pro1999=) c.5625C>A (p.Pro1875=) c.5781C>A (p.Pro1927=) c.5988C>A (p.Pro1996=) c.5289C>A (p.Pro1763=) c.6036C>A (p.Pro2012=) | gnomAD v4 |
16 | g.3729007del | CA2631403250 | CREBBP | c.6042del (p.Ser2015AlafsTer25) c.5928del (p.Ser1977AlafsTer25) c.5997del (p.Ser2000AlafsTer25) c.5625del (p.Ser1876AlafsTer25) c.5781del (p.Ser1928AlafsTer25) c.5988del (p.Ser1997AlafsTer25) c.5289del (p.Ser1764AlafsTer25) c.6036del (p.Ser2013AlafsTer25) | dbSNP gnomAD v4 |
16 | g.3729006G>A | CA394554480 | CREBBP | c.6041C>T (p.Pro2014Leu) c.5927C>T (p.Pro1976Leu) c.5996C>T (p.Pro1999Leu) c.5624C>T (p.Pro1875Leu) c.5780C>T (p.Pro1927Leu) c.5987C>T (p.Pro1996Leu) c.5288C>T (p.Pro1763Leu) c.6035C>T (p.Pro2012Leu) | dbSNP gnomAD v4 |
16 | g.3729006G>C | CA394554481 | CREBBP | c.6041C>G (p.Pro2014Arg) c.5927C>G (p.Pro1976Arg) c.5996C>G (p.Pro1999Arg) c.5624C>G (p.Pro1875Arg) c.5780C>G (p.Pro1927Arg) c.5987C>G (p.Pro1996Arg) c.5288C>G (p.Pro1763Arg) c.6035C>G (p.Pro2012Arg) | dbSNP |
16 | g.3729006G>T | CA394554482 | CREBBP | c.6041C>A (p.Pro2014His) c.5927C>A (p.Pro1976His) c.5996C>A (p.Pro1999His) c.5624C>A (p.Pro1875His) c.5780C>A (p.Pro1927His) c.5987C>A (p.Pro1996His) c.5288C>A (p.Pro1763His) c.6035C>A (p.Pro2012His) | gnomAD v4 |
16 | g.3729007G>A | CA394554488 | CREBBP | c.6040C>T (p.Pro2014Ser) c.5926C>T (p.Pro1976Ser) c.5995C>T (p.Pro1999Ser) c.5623C>T (p.Pro1875Ser) c.5779C>T (p.Pro1927Ser) c.5986C>T (p.Pro1996Ser) c.5287C>T (p.Pro1763Ser) c.6034C>T (p.Pro2012Ser) | dbSNP gnomAD v4 |
16 | g.3729007G>C | CA394554486 | CREBBP | c.6040C>G (p.Pro2014Ala) c.5926C>G (p.Pro1976Ala) c.5995C>G (p.Pro1999Ala) c.5623C>G (p.Pro1875Ala) c.5779C>G (p.Pro1927Ala) c.5986C>G (p.Pro1996Ala) c.5287C>G (p.Pro1763Ala) c.6034C>G (p.Pro2012Ala) | dbSNP gnomAD v4 |
16 | g.3729007G= | CA2202916157 | CREBBP | c.6040C= (p.Pro2014=) c.5926C= (p.Pro1976=) c.5995C= (p.Pro1999=) c.5623C= (p.Pro1875=) c.5779C= (p.Pro1927=) c.5986C= (p.Pro1996=) c.5287C= (p.Pro1763=) c.6034C= (p.Pro2012=) | |
16 | g.3729007G>T | CA394554484 | CREBBP | c.6040C>A (p.Pro2014Thr) c.5926C>A (p.Pro1976Thr) c.5995C>A (p.Pro1999Thr) c.5623C>A (p.Pro1875Thr) c.5779C>A (p.Pro1927Thr) c.5986C>A (p.Pro1996Thr) c.5287C>A (p.Pro1763Thr) c.6034C>A (p.Pro2012Thr) | gnomAD v4 |
16 | g.3729008C>A | CA394554490 | CREBBP | c.6039G>T (p.Met2013Ile) c.5925G>T (p.Met1975Ile) c.5994G>T (p.Met1998Ile) c.5622G>T (p.Met1874Ile) c.5778G>T (p.Met1926Ile) c.5985G>T (p.Met1995Ile) c.5286G>T (p.Met1762Ile) c.6033G>T (p.Met2011Ile) | gnomAD v4 |
16 | g.3729008C= | CA2202916158 | CREBBP | c.6039G= (p.Met2013=) c.5925G= (p.Met1975=) c.5994G= (p.Met1998=) c.5622G= (p.Met1874=) c.5778G= (p.Met1926=) c.5985G= (p.Met1995=) c.5286G= (p.Met1762=) c.6033G= (p.Met2011=) | |
16 | g.3729008C>G | CA394554492 | CREBBP | c.6039G>C (p.Met2013Ile) c.5925G>C (p.Met1975Ile) c.5994G>C (p.Met1998Ile) c.5622G>C (p.Met1874Ile) c.5778G>C (p.Met1926Ile) c.5985G>C (p.Met1995Ile) c.5286G>C (p.Met1762Ile) c.6033G>C (p.Met2011Ile) | dbSNP |
16 | g.3729008C>T | CA7869193 | CREBBP | c.6039G>A (p.Met2013Ile) c.5925G>A (p.Met1975Ile) c.5994G>A (p.Met1998Ile) c.5622G>A (p.Met1874Ile) c.5778G>A (p.Met1926Ile) c.5985G>A (p.Met1995Ile) c.5286G>A (p.Met1762Ile) c.6033G>A (p.Met2011Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729009A>C | CA394554495 | CREBBP | c.6038T>G (p.Met2013Arg) c.5924T>G (p.Met1975Arg) c.5993T>G (p.Met1998Arg) c.5621T>G (p.Met1874Arg) c.5777T>G (p.Met1926Arg) c.5984T>G (p.Met1995Arg) c.5285T>G (p.Met1762Arg) c.6032T>G (p.Met2011Arg) | dbSNP gnomAD v4 |
16 | g.3729009A>G | CA394554497 | CREBBP | c.6038T>C (p.Met2013Thr) c.5924T>C (p.Met1975Thr) c.5993T>C (p.Met1998Thr) c.5621T>C (p.Met1874Thr) c.5777T>C (p.Met1926Thr) c.5984T>C (p.Met1995Thr) c.5285T>C (p.Met1762Thr) c.6032T>C (p.Met2011Thr) | |
16 | g.3729009A>T | CA394554499 | CREBBP | c.6038T>A (p.Met2013Lys) c.5924T>A (p.Met1975Lys) c.5993T>A (p.Met1998Lys) c.5621T>A (p.Met1874Lys) c.5777T>A (p.Met1926Lys) c.5984T>A (p.Met1995Lys) c.5285T>A (p.Met1762Lys) c.6032T>A (p.Met2011Lys) | dbSNP |
16 | g.3729010T>A | CA394554502 | CREBBP | c.6037A>T (p.Met2013Leu) c.5923A>T (p.Met1975Leu) c.5992A>T (p.Met1998Leu) c.5620A>T (p.Met1874Leu) c.5776A>T (p.Met1926Leu) c.5983A>T (p.Met1995Leu) c.5284A>T (p.Met1762Leu) c.6031A>T (p.Met2011Leu) | gnomAD v4 |
16 | g.3729010T>C | CA394554503 | CREBBP | c.6037A>G (p.Met2013Val) c.5923A>G (p.Met1975Val) c.5992A>G (p.Met1998Val) c.5620A>G (p.Met1874Val) c.5776A>G (p.Met1926Val) c.5983A>G (p.Met1995Val) c.5284A>G (p.Met1762Val) c.6031A>G (p.Met2011Val) | dbSNP |
16 | g.3729010T>G | CA394554505 | CREBBP | c.6037A>C (p.Met2013Leu) c.5923A>C (p.Met1975Leu) c.5992A>C (p.Met1998Leu) c.5620A>C (p.Met1874Leu) c.5776A>C (p.Met1926Leu) c.5983A>C (p.Met1995Leu) c.5284A>C (p.Met1762Leu) c.6031A>C (p.Met2011Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729010T= | CA2202916159 | CREBBP | c.6037A= (p.Met2013=) c.5923A= (p.Met1975=) c.5992A= (p.Met1998=) c.5620A= (p.Met1874=) c.5776A= (p.Met1926=) c.5983A= (p.Met1995=) c.5284A= (p.Met1762=) c.6031A= (p.Met2011=) | |
16 | g.3729011G>A | CA493393977 | CREBBP | c.6036C>T (p.Val2012=) c.5922C>T (p.Val1974=) c.5991C>T (p.Val1997=) c.5619C>T (p.Val1873=) c.5775C>T (p.Val1925=) c.5982C>T (p.Val1994=) c.5283C>T (p.Val1761=) c.6030C>T (p.Val2010=) | dbSNP gnomAD v4 |
16 | g.3729011G>C | CA493393978 | CREBBP | c.6036C>G (p.Val2012=) c.5922C>G (p.Val1974=) c.5991C>G (p.Val1997=) c.5619C>G (p.Val1873=) c.5775C>G (p.Val1925=) c.5982C>G (p.Val1994=) c.5283C>G (p.Val1761=) c.6030C>G (p.Val2010=) | dbSNP |
16 | g.3729011G>T | CA493393979 | CREBBP | c.6036C>A (p.Val2012=) c.5922C>A (p.Val1974=) c.5991C>A (p.Val1997=) c.5619C>A (p.Val1873=) c.5775C>A (p.Val1925=) c.5982C>A (p.Val1994=) c.5283C>A (p.Val1761=) c.6030C>A (p.Val2010=) | gnomAD v4 |
16 | g.3729012A= | CA2202916160 | CREBBP | c.6035T= (p.Val2012=) c.5921T= (p.Val1974=) c.5990T= (p.Val1997=) c.5618T= (p.Val1873=) c.5774T= (p.Val1925=) c.5981T= (p.Val1994=) c.5282T= (p.Val1761=) c.6029T= (p.Val2010=) | |
16 | g.3729012A>C | CA394554508 | CREBBP | c.6035T>G (p.Val2012Gly) c.5921T>G (p.Val1974Gly) c.5990T>G (p.Val1997Gly) c.5618T>G (p.Val1873Gly) c.5774T>G (p.Val1925Gly) c.5981T>G (p.Val1994Gly) c.5282T>G (p.Val1761Gly) c.6029T>G (p.Val2010Gly) | dbSNP |
16 | g.3729012A>G | CA394554509 | CREBBP | c.6035T>C (p.Val2012Ala) c.5921T>C (p.Val1974Ala) c.5990T>C (p.Val1997Ala) c.5618T>C (p.Val1873Ala) c.5774T>C (p.Val1925Ala) c.5981T>C (p.Val1994Ala) c.5282T>C (p.Val1761Ala) c.6029T>C (p.Val2010Ala) | dbSNP gnomAD v4 |
16 | g.3729012A>T | CA394554510 | CREBBP | c.6035T>A (p.Val2012Asp) c.5921T>A (p.Val1974Asp) c.5990T>A (p.Val1997Asp) c.5618T>A (p.Val1873Asp) c.5774T>A (p.Val1925Asp) c.5981T>A (p.Val1994Asp) c.5282T>A (p.Val1761Asp) c.6029T>A (p.Val2010Asp) | dbSNP gnomAD v2 |
16 | g.3729013C>A | CA7869194 | CREBBP | c.6034G>T (p.Val2012Phe) c.5920G>T (p.Val1974Phe) c.5989G>T (p.Val1997Phe) c.5617G>T (p.Val1873Phe) c.5773G>T (p.Val1925Phe) c.5980G>T (p.Val1994Phe) c.5281G>T (p.Val1761Phe) c.6028G>T (p.Val2010Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729013C= | CA2202916161 | CREBBP | c.6034G= (p.Val2012=) c.5920G= (p.Val1974=) c.5989G= (p.Val1997=) c.5617G= (p.Val1873=) c.5773G= (p.Val1925=) c.5980G= (p.Val1994=) c.5281G= (p.Val1761=) c.6028G= (p.Val2010=) | |
16 | g.3729013C>G | CA394554514 | CREBBP | c.6034G>C (p.Val2012Leu) c.5920G>C (p.Val1974Leu) c.5989G>C (p.Val1997Leu) c.5617G>C (p.Val1873Leu) c.5773G>C (p.Val1925Leu) c.5980G>C (p.Val1994Leu) c.5281G>C (p.Val1761Leu) c.6028G>C (p.Val2010Leu) | dbSNP |
16 | g.3729013C>T | CA7869195 | CREBBP | c.6034G>A (p.Val2012Ile) c.5920G>A (p.Val1974Ile) c.5989G>A (p.Val1997Ile) c.5617G>A (p.Val1873Ile) c.5773G>A (p.Val1925Ile) c.5980G>A (p.Val1994Ile) c.5281G>A (p.Val1761Ile) c.6028G>A (p.Val2010Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729014G>A | CA7869196 | CREBBP | c.6033C>T (p.Pro2011=) c.5919C>T (p.Pro1973=) c.5988C>T (p.Pro1996=) c.5616C>T (p.Pro1872=) c.5772C>T (p.Pro1924=) c.5979C>T (p.Pro1993=) c.5280C>T (p.Pro1760=) c.6027C>T (p.Pro2009=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729014G>C | CA493393990 | CREBBP | c.6033C>G (p.Pro2011=) c.5919C>G (p.Pro1973=) c.5988C>G (p.Pro1996=) c.5616C>G (p.Pro1872=) c.5772C>G (p.Pro1924=) c.5979C>G (p.Pro1993=) c.5280C>G (p.Pro1760=) c.6027C>G (p.Pro2009=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729014G= | CA2202916162 | CREBBP | c.6033C= (p.Pro2011=) c.5919C= (p.Pro1973=) c.5988C= (p.Pro1996=) c.5616C= (p.Pro1872=) c.5772C= (p.Pro1924=) c.5979C= (p.Pro1993=) c.5280C= (p.Pro1760=) c.6027C= (p.Pro2009=) | |
16 | g.3729014G>T | CA493393992 | CREBBP | c.6033C>A (p.Pro2011=) c.5919C>A (p.Pro1973=) c.5988C>A (p.Pro1996=) c.5616C>A (p.Pro1872=) c.5772C>A (p.Pro1924=) c.5979C>A (p.Pro1993=) c.5280C>A (p.Pro1760=) c.6027C>A (p.Pro2009=) | gnomAD v4 |
16 | g.3729016dup | CA1139664468 | CREBBP | c.6033dup (p.Val2012ArgfsTer?) c.5919dup (p.Val1974ArgfsTer?) c.5988dup (p.Val1997ArgfsTer?) c.5616dup (p.Val1873ArgfsTer?) c.5772dup (p.Val1925ArgfsTer?) c.5979dup (p.Val1994ArgfsTer?) c.5280dup (p.Val1761ArgfsTer?) c.6027dup (p.Val2010ArgfsTer?) | ClinVar dbSNP |
16 | g.3729015G>A | CA394554518 | CREBBP | c.6032C>T (p.Pro2011Leu) c.5918C>T (p.Pro1973Leu) c.5987C>T (p.Pro1996Leu) c.5615C>T (p.Pro1872Leu) c.5771C>T (p.Pro1924Leu) c.5978C>T (p.Pro1993Leu) c.5279C>T (p.Pro1760Leu) c.6026C>T (p.Pro2009Leu) | dbSNP |
16 | g.3729015G>C | CA394554520 | CREBBP | c.6032C>G (p.Pro2011Arg) c.5918C>G (p.Pro1973Arg) c.5987C>G (p.Pro1996Arg) c.5615C>G (p.Pro1872Arg) c.5771C>G (p.Pro1924Arg) c.5978C>G (p.Pro1993Arg) c.5279C>G (p.Pro1760Arg) c.6026C>G (p.Pro2009Arg) | dbSNP gnomAD v4 |
16 | g.3729015G= | CA2202916163 | CREBBP | c.6032C= (p.Pro2011=) c.5918C= (p.Pro1973=) c.5987C= (p.Pro1996=) c.5615C= (p.Pro1872=) c.5771C= (p.Pro1924=) c.5978C= (p.Pro1993=) c.5279C= (p.Pro1760=) c.6026C= (p.Pro2009=) | |
16 | g.3729015G>T | CA394554521 | CREBBP | c.6032C>A (p.Pro2011His) c.5918C>A (p.Pro1973His) c.5987C>A (p.Pro1996His) c.5615C>A (p.Pro1872His) c.5771C>A (p.Pro1924His) c.5978C>A (p.Pro1993His) c.5279C>A (p.Pro1760His) c.6026C>A (p.Pro2009His) | dbSNP gnomAD v4 |
16 | g.3729016G>A | CA394554523 | CREBBP | c.6031C>T (p.Pro2011Ser) c.5917C>T (p.Pro1973Ser) c.5986C>T (p.Pro1996Ser) c.5614C>T (p.Pro1872Ser) c.5770C>T (p.Pro1924Ser) c.5977C>T (p.Pro1993Ser) c.5278C>T (p.Pro1760Ser) c.6025C>T (p.Pro2009Ser) | dbSNP gnomAD v4 |
16 | g.3729016G>C | CA394554525 | CREBBP | c.6031C>G (p.Pro2011Ala) c.5917C>G (p.Pro1973Ala) c.5986C>G (p.Pro1996Ala) c.5614C>G (p.Pro1872Ala) c.5770C>G (p.Pro1924Ala) c.5977C>G (p.Pro1993Ala) c.5278C>G (p.Pro1760Ala) c.6025C>G (p.Pro2009Ala) | dbSNP |
16 | g.3729016G= | CA2202916164 | CREBBP | c.6031C= (p.Pro2011=) c.5917C= (p.Pro1973=) c.5986C= (p.Pro1996=) c.5614C= (p.Pro1872=) c.5770C= (p.Pro1924=) c.5977C= (p.Pro1993=) c.5278C= (p.Pro1760=) c.6025C= (p.Pro2009=) | |
16 | g.3729016G>T | CA394554527 | CREBBP | c.6031C>A (p.Pro2011Thr) c.5917C>A (p.Pro1973Thr) c.5986C>A (p.Pro1996Thr) c.5614C>A (p.Pro1872Thr) c.5770C>A (p.Pro1924Thr) c.5977C>A (p.Pro1993Thr) c.5278C>A (p.Pro1760Thr) c.6025C>A (p.Pro2009Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729017C>A | CA493393996 | CREBBP | c.6030G>T (p.Gly2010=) c.5916G>T (p.Gly1972=) c.5985G>T (p.Gly1995=) c.5613G>T (p.Gly1871=) c.5769G>T (p.Gly1923=) c.5976G>T (p.Gly1992=) c.5277G>T (p.Gly1759=) c.6024G>T (p.Gly2008=) | dbSNP gnomAD v4 |
16 | g.3729017C= | CA2202916165 | CREBBP | c.6030G= (p.Gly2010=) c.5916G= (p.Gly1972=) c.5985G= (p.Gly1995=) c.5613G= (p.Gly1871=) c.5769G= (p.Gly1923=) c.5976G= (p.Gly1992=) c.5277G= (p.Gly1759=) c.6024G= (p.Gly2008=) | |
16 | g.3729017C>G | CA493393998 | CREBBP | c.6030G>C (p.Gly2010=) c.5916G>C (p.Gly1972=) c.5985G>C (p.Gly1995=) c.5613G>C (p.Gly1871=) c.5769G>C (p.Gly1923=) c.5976G>C (p.Gly1992=) c.5277G>C (p.Gly1759=) c.6024G>C (p.Gly2008=) | |
16 | g.3729017C>T | CA493393997 | CREBBP | c.6030G>A (p.Gly2010=) c.5916G>A (p.Gly1972=) c.5985G>A (p.Gly1995=) c.5613G>A (p.Gly1871=) c.5769G>A (p.Gly1923=) c.5976G>A (p.Gly1992=) c.5277G>A (p.Gly1759=) c.6024G>A (p.Gly2008=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729019del | CA2840860807 | CREBBP | c.6030del (p.Val2012SerfsTer28) c.5916del (p.Val1974SerfsTer28) c.5985del (p.Val1997SerfsTer28) c.5613del (p.Val1873SerfsTer28) c.5769del (p.Val1925SerfsTer28) c.5976del (p.Val1994SerfsTer28) c.5277del (p.Val1761SerfsTer28) c.6024del (p.Val2010SerfsTer28) | |
16 | g.3729018C>A | CA7869197 | CREBBP | c.6029G>T (p.Gly2010Val) c.5915G>T (p.Gly1972Val) c.5984G>T (p.Gly1995Val) c.5612G>T (p.Gly1871Val) c.5768G>T (p.Gly1923Val) c.5975G>T (p.Gly1992Val) c.5276G>T (p.Gly1759Val) c.6023G>T (p.Gly2008Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729018C= | CA2202916166 | CREBBP | c.6029G= (p.Gly2010=) c.5915G= (p.Gly1972=) c.5984G= (p.Gly1995=) c.5612G= (p.Gly1871=) c.5768G= (p.Gly1923=) c.5975G= (p.Gly1992=) c.5276G= (p.Gly1759=) c.6023G= (p.Gly2008=) | |
16 | g.3729018C>G | CA394554530 | CREBBP | c.6029G>C (p.Gly2010Ala) c.5915G>C (p.Gly1972Ala) c.5984G>C (p.Gly1995Ala) c.5612G>C (p.Gly1871Ala) c.5768G>C (p.Gly1923Ala) c.5975G>C (p.Gly1992Ala) c.5276G>C (p.Gly1759Ala) c.6023G>C (p.Gly2008Ala) | dbSNP |
16 | g.3729018C>T | CA394554532 | CREBBP | c.6029G>A (p.Gly2010Glu) c.5915G>A (p.Gly1972Glu) c.5984G>A (p.Gly1995Glu) c.5612G>A (p.Gly1871Glu) c.5768G>A (p.Gly1923Glu) c.5975G>A (p.Gly1992Glu) c.5276G>A (p.Gly1759Glu) c.6023G>A (p.Gly2008Glu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729019C>A | CA394554535 | CREBBP | c.6028G>T (p.Gly2010Trp) c.5914G>T (p.Gly1972Trp) c.5983G>T (p.Gly1995Trp) c.5611G>T (p.Gly1871Trp) c.5767G>T (p.Gly1923Trp) c.5974G>T (p.Gly1992Trp) c.5275G>T (p.Gly1759Trp) c.6022G>T (p.Gly2008Trp) | dbSNP gnomAD v4 |
16 | g.3729019C= | CA2202916167 | CREBBP | c.6028G= (p.Gly2010=) c.5914G= (p.Gly1972=) c.5983G= (p.Gly1995=) c.5611G= (p.Gly1871=) c.5767G= (p.Gly1923=) c.5974G= (p.Gly1992=) c.5275G= (p.Gly1759=) c.6022G= (p.Gly2008=) | |
16 | g.3729019C>G | CA394554536 | CREBBP | c.6028G>C (p.Gly2010Arg) c.5914G>C (p.Gly1972Arg) c.5983G>C (p.Gly1995Arg) c.5611G>C (p.Gly1871Arg) c.5767G>C (p.Gly1923Arg) c.5974G>C (p.Gly1992Arg) c.5275G>C (p.Gly1759Arg) c.6022G>C (p.Gly2008Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729019C>T | CA7869198 | CREBBP | c.6028G>A (p.Gly2010Arg) c.5914G>A (p.Gly1972Arg) c.5983G>A (p.Gly1995Arg) c.5611G>A (p.Gly1871Arg) c.5767G>A (p.Gly1923Arg) c.5974G>A (p.Gly1992Arg) c.5275G>A (p.Gly1759Arg) c.6022G>A (p.Gly2008Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |